gene aa_change aa_change_short impact qualified_impact inheritance quality_scores dbsnp_id overall_frequency_n overall_frequency_d overall_frequency n_genomes n_genomes_annotated n_haplomes n_articles n_articles_annotated qualityscore_in_silico qualitycomment_in_silico qualityscore_in_vitro qualitycomment_in_vitro qualityscore_case_control qualitycomment_case_control qualityscore_familial qualitycomment_familial qualityscore_severity qualitycomment_severity qualityscore_treatability qualitycomment_treatability gene_in_genetests in_omim in_gwas in_pharmgkb pph2_score genetests_testable genetests_reviewed nblosum100 nblosum100>3 max_or_disease_name max_or_case_pos max_or_case_neg max_or_control_pos max_or_control_neg max_or_or autoscore webscore n_web_uneval variant_evidence clinical_importance summary_short MYL2 Ala13Thr A13T pathogenic High clinical importance, Uncertain pathogenic dominant Array rs104894363 2 10758 0.000185908 1 1 1 6 6 3 Y 4 Y 0 Y ! Y 4 Y 3 Y Y Y - - - Y Y 1 - Familial Hypertrophic Cardiomyopathy 2 595 0 339 INF 5 N 7 2 0 This rare variant is reported to cause late-onset familial hypertrophic cardiomyopathy. The variant has been found in five affected Caucasian individuals (in four families), but affected non-carriers and unaffected carriers have also been observed. No statistically significant enrichment of this variant in cases vs. controls has been shown. This variant is reported in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/14064/) with conflicting interpretations: two sources classify it as pathogenic, three as "uncertain significance", and one as "likely benign". CACNA2D4 Tyr802Stop Y802X pathogenic Insufficiently evaluated pathogenic recessive Array 9 10256 0.000877535 0 0 0 2 2 3 Y 1 Y 1 Y 1 Y 3 Y 1 Y - Y - - - - - 10 Y 4 N 3 - - This variant is believed to cause night blindness (Nyctalopia) due to a premature truncation of the calcium channel CACNA2D4, causing slowly progressing cone dystrophy. The observations to date consist of one proband found in a screen of 34 patients; this individual and an affected sibling were homozygous for the variant. It wasn't found in any of 224 control chromosomes. A different severe mutation of this gene in mice causes loss of rod cells in the retina. NPHP4 Arg848Trp R848W benign Insufficiently evaluated benign recessive Array 162 10250 0.0158049 0 0 0 4 4 2 Y ! Y - - - - - - - - Y - - - 0.999 Y - 7 Y 4 - 5 - - Association with Cerebello-Oculo-Renal Syndromes (CORS) which includes Joubert syndrome (JBTS); appears to be a benign polymorphism. COL4A4 Gly999Glu G999E benign Low clinical importance, Uncertain benign dominant Array 98 9708 0.0100948 0 0 0 2 2 3 Y - - 0 Y - - - - - - Y - - - - Y Y 6 Y Collagen IV-Related Nephropathies (Alport Syndrome and Thin Base 2 46 1 47 2.043 4 - 2 0 0 This variant is causative for Benign Familial Hematuria (thin membrane basement disease). While this variant is benign, it is useful in differentiating glomerular hematuria from Alport Syndrome. MYO1A Ser797Phe S797F pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 51 10758 0.00474066 2 0 1 1 1 1 Y - - 0 Y 0 Y 3 Y 1 Y - - - - 0.813 - - 5 Y 1 N 1 0 Although reported to cause dominant, early-onset sensorineural hearing loss, this variant has been reported in the genome of an unaffected PGP participant. HFE His63Asp H63D pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs1799945 1183 10758 0.109965 12 0 13 5 5 2 Y 2 Y 0 Y 0 - 4 Y 5 Y Y Y - - 0.999 Y Y 3 - HFE-Associated Hereditary Hemochromatosis 22 259 79 431 0.463 5 N 10 0 0 There have been some hypotheses that this variant contributes to causing hereditary hemochromatosis, possibly as a compound heterozygote, but some others treat it as a polymorphism. Cys282Tyr is the classic causal variant and itself has very low penetrance. Mouse studies indicates this variant has a similar but weaker effect; if it has any effect at all its penetrance may be quite low and/or require modifier alleles. A1BG His395Arg H395R not reviewed Insufficiently evaluated not reviewed unknown Array rs2241788 181 9656 0.0187448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - A1BG Arg244Gln R244Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - A1BG His52Arg H52R not reviewed Insufficiently evaluated not reviewed unknown Array rs893184 9574 10758 0.889942 47 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - A1CF Val547Met V547M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - A1CF Val555Met V555M not reviewed Insufficiently evaluated not reviewed unknown Array rs9073 361 10758 0.0335564 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - A2M Ala1103Thr A1103T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10738 0.000279381 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - A2M Ile1000Val I1000V not reviewed Insufficiently evaluated not reviewed unknown Array rs669 3288 10294 0.319409 32 0 42 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - A2M Asn639Asp N639D not reviewed Insufficiently evaluated not reviewed unknown Array rs226405 9614 9636 0.997717 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - A2ML1 Thr53Arg T53R not reviewed Insufficiently evaluated not reviewed unknown Array 25 9720 0.00257202 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 3 - 0 N - - A2ML1 Arg74Thr R74T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9890 0.000303336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 3 - 0 N - - A2ML1 Thr197Ile T197I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734941 80 10206 0.00783853 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - A2ML1 Gly207Arg G207R not reviewed Insufficiently evaluated not reviewed unknown Array rs11047499 258 10092 0.0255648 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.051 - - 6 Y 1 - 3 - - A2ML1 Phe370Ser F370S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744220 240 9780 0.0245399 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - 5 Y 0 N - - A2ML1 Val392Leu V392L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - A2ML1 Val392Asp V392D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - A2ML1 Gly748Glu G748E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10248 9.758e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 3 - 1 - - A2ML1 Asp850Glu D850E not reviewed Insufficiently evaluated not reviewed unknown Array rs1860926 9644 10016 0.962859 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - A2ML1 Cys970Tyr C970Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1558526 1895 10158 0.186552 15 0 18 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - A2ML1 Arg1122Trp R1122W not reviewed Insufficiently evaluated not reviewed unknown Array rs1860967 3026 9960 0.303815 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - A2ML1 Ala1190Val A1190V not reviewed Insufficiently evaluated not reviewed unknown Array rs73040625 609 9906 0.0614779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - A2ML1 His1229Arg H1229R not reviewed Insufficiently evaluated not reviewed unknown Array rs10219561 9506 9824 0.96763 43 0 80 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - A2ML1 Met1257Val M1257V not reviewed Insufficiently evaluated not reviewed unknown Array rs7308811 7694 9880 0.778745 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - A2ML1 Met1364Val M1364V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9972 0.00010028 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - A3GALT2 Gly23Asp G23D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 4 Y 2 N - - A4GALT Met37Val M37V not reviewed Insufficiently evaluated not reviewed unknown Array rs11541159 4351 10754 0.404594 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - A4GNT Arg266Stop R266X not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - A4GNT Ala218Asp A218D not reviewed Insufficiently evaluated not reviewed unknown Array rs2246945 7092 10758 0.65923 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AAAS Arg434Gln R434Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - AAAS Ser198Ala S198A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - AACS Ile118Val I118V not reviewed Insufficiently evaluated not reviewed unknown Array rs12831803 2083 10758 0.193623 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AACS Glu275Asp E275D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - AACS Ala470Val A470V not reviewed Insufficiently evaluated not reviewed unknown Array rs59883951 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 1 - 1 - - AADAC Val281Ile V281I not reviewed Insufficiently evaluated not reviewed unknown Array rs1803155 8381 10754 0.779338 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AADACL1 Lys103Gln K103Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AADACL1 Gln30Arg Q30R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AADACL2 Ala186Ser A186S not reviewed Insufficiently evaluated not reviewed unknown Array rs1972977 7534 10756 0.700446 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AADACL3 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array rs3000859 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AADACL3 Ser47Pro S47P not reviewed Insufficiently evaluated not reviewed unknown Array rs3010877 8658 10060 0.860636 56 0 100 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AADACL3 Arg129Trp R129W not reviewed Insufficiently evaluated not reviewed unknown Array rs17038445 65 9952 0.00653135 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AADACL3 Arg59Trp R59W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AADACL3 Cys125Phe C125F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AADACL3 Cys195Phe C195F not reviewed Insufficiently evaluated not reviewed unknown Array rs7513079 6430 9606 0.669373 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AADACL3 Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array rs11121969 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AADACL3 Pro280Leu P280L not reviewed Insufficiently evaluated not reviewed unknown Array rs11121969 908 10266 0.0884473 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AADAT Val243Ile V243I not reviewed Insufficiently evaluated not reviewed unknown Array rs56350236 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AAK1 Lys509Gln K509Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6715776 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AAK1 Ala481Pro A481P not reviewed Insufficiently evaluated not reviewed unknown Array 328 9312 0.0352234 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AANAT Thr3Met T3M not reviewed Insufficiently evaluated not reviewed unknown Array rs61739395 211 10740 0.0196462 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - AARS Thr804Ser T804S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - AARS Gly586Val G586V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 3 - 2 - - AARS Thr562Ile T562I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 3 - 0 N - - AARS Gly275Asp G275D not reviewed Insufficiently evaluated not reviewed unknown Array rs11537667 864 10758 0.0803123 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.887 - - 4 Y 1 N - - AARS2 Met850Val M850V not reviewed Insufficiently evaluated not reviewed unknown Array rs35783144 239 10758 0.022216 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 3 - - AARS2 Glu843Gly E843G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - AARS2 Val730Met V730M not reviewed Insufficiently evaluated not reviewed unknown Array rs35623954 337 10758 0.0313255 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - AARS2 Ile339Val I339V not reviewed Insufficiently evaluated not reviewed unknown Array rs324136 9529 10758 0.885759 53 0 95 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AARS2 Gly161Trp G161W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 7 Y 2 N - - AARSD1 Val231Gly V231G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AARSD1 Val292Gly V292G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AARSD1 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AARSD1 Arg235Cys R235C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AARSD1 Asp110Tyr D110Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AARSD1 Asp115Tyr D115Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AARSD1 Asp148Tyr D148Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AARSD1 Asp87Tyr D87Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AARSD1 Arg58Met R58M not reviewed Insufficiently evaluated not reviewed unknown Array rs35444712 1438 10758 0.133668 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AASDH Met1036Ile M1036I not reviewed Insufficiently evaluated not reviewed unknown Array rs73159980 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - AASDH Tyr1030Asp Y1030D not reviewed Insufficiently evaluated not reviewed unknown Array rs8340 1681 10758 0.156256 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AASDH Thr865Ala T865A not reviewed Insufficiently evaluated not reviewed unknown Array rs12498340 1585 10758 0.147332 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - AASDH Ile787Val I787V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735109 115 10758 0.0106897 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 1 - 1 - - AASDH Ala747Val A747V not reviewed Insufficiently evaluated not reviewed unknown Array rs3796544 4117 10758 0.382692 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AASDH Lys368Arg K368R not reviewed Insufficiently evaluated not reviewed unknown Array rs3796543 197 10758 0.018312 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - AASDH Arg223Leu R223L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - AASDH Pro93Arg P93R not reviewed Insufficiently evaluated not reviewed unknown Array rs34228795 197 10758 0.018312 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - AASDH Ile61Val I61V not reviewed Insufficiently evaluated not reviewed unknown Array rs34543011 198 10758 0.0184049 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - AASS Lys820Arg K820R not reviewed Insufficiently evaluated not reviewed unknown Array rs73441002 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.948 Y - -3 - 3 N - - AASS Pro560Ser P560S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - AATK Phe1266Ser F1266S not reviewed Insufficiently evaluated not reviewed unknown Array rs36000545 2118 7582 0.279346 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 1 N - - AATK Gly703Cys G703C not reviewed Insufficiently evaluated not reviewed unknown Array rs7503604 4150 8994 0.461419 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.044 - - 7 Y 0 N - - AATK Ala541Thr A541T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738821 942 6852 0.137478 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 1 - 1 - - AATK Arg280Lys R280K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - -3 - 1 N - - ABAT Gln56Arg Q56R not reviewed Insufficiently evaluated not reviewed unknown Array rs1731017 5524 10756 0.513574 43 0 63 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 4 - - ABCA1 Lys1587Arg K1587R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230808 6256 10758 0.581521 38 0 58 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 3 - - ABCA1 Ser1255Arg S1255R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ABCA1 Glu1172Asp E1172D not reviewed Insufficiently evaluated not reviewed unknown Array rs33918808 813 10758 0.0755717 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 10 - - ABCA1 Ile883Met I883M not reviewed Insufficiently evaluated not reviewed unknown Array rs2066714 2686 10758 0.249675 30 0 37 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 10 - - ABCA1 Val825Ile V825I not reviewed Insufficiently evaluated not reviewed unknown Array rs2066715 512 10758 0.0475925 7 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 10 - - ABCA1 Val771Met V771M not reviewed Insufficiently evaluated not reviewed unknown Array rs2066718 555 10758 0.0515895 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 10 - - ABCA1 Val399Ala V399A not reviewed Insufficiently evaluated not reviewed unknown Array rs9282543 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 6 - - ABCA1 Arg219Lys R219K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2230806 4225 10758 0.392731 37 0 48 2 2 2 Y - - - - - - - - - - Y Y - Y - Y - -3 - 3 N 10 - - ABCA10 Arg1322Stop R1322X not reviewed Insufficiently evaluated not reviewed unknown Array rs10491178 675 10758 0.062744 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ABCA10 Arg1216Ile R1216I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - ABCA10 Met916Thr M916T not reviewed Insufficiently evaluated not reviewed unknown Array rs4968849 8166 10758 0.759063 25 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABCA10 Ile287Val I287V not reviewed Insufficiently evaluated not reviewed unknown Array rs11657804 3163 10664 0.296605 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ABCA10 Pro277Thr P277T not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ABCA10 Tyr261Stop Y261X not reviewed Insufficiently evaluated not reviewed unknown Array rs11077414 8 122 0.0655738 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 2 - - ABCA10 Pro203Ser P203S not reviewed Insufficiently evaluated not reviewed unknown Array rs9909216 7030 10758 0.653467 46 0 61 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - ABCA12 Asn2000Ser N2000S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ABCA12 Asn2318Ser N2318S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.86 Y Y 0 - 4 N - - ABCA12 Ile1675Met I1675M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ABCA12 Ile1993Met I1993M not reviewed Insufficiently evaluated not reviewed unknown Array rs73088469 30 10758 0.00278862 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y -1 - 2 N - - ABCA12 Met1647Thr M1647T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ABCA12 Met1965Thr M1965T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.913 Y Y 2 - 4 N - - ABCA12 Ser459Thr S459T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 3 0 0 1 Y - - - - - - - - - - Y - - - 0.004 Y Y -2 - 3 - 3 - - ABCA12 Ser777Thr S777T not reviewed Insufficiently evaluated not reviewed unknown Array rs7560008 10730 10754 0.997768 56 0 112 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - ABCA12 Arg313Gln R313Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - ABCA12 Arg631Gln R631Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.764 Y Y 0 - 3 N - - ABCA12 Val224Ala V224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ABCA12 Val542Ala V542A not reviewed Insufficiently evaluated not reviewed unknown Array rs114651183 182 10756 0.0169208 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.849 Y Y 2 - 3 N - - ABCA12 Ser141Thr S141T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ABCA12 Asn237His N237H not reviewed Insufficiently evaluated not reviewed unknown Array rs11890512 1747 10758 0.162391 21 0 29 0 0 1 Y - - - - - - - - - - Y - - - 0.021 Y Y 0 - 2 N - - ABCA12 Trp199Cys W199C not reviewed Insufficiently evaluated not reviewed unknown Array rs16853238 761 10758 0.0707381 11 0 11 0 0 3 Y - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 - 1 - - ABCA13 Pro108Gln P108Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - ABCA13 Asn429Ser N429S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Arg452Stop R452X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCA13 Val501Ile V501I not reviewed Insufficiently evaluated not reviewed unknown Array rs2361519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA13 Phe713Val F713V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - ABCA13 Cys1083Tyr C1083Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1358066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Gln1222Pro Q1222P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA13 Ile1243Met I1243M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Ile1362Val I1362V not reviewed Insufficiently evaluated not reviewed unknown Array rs17547830 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA13 Ser1444Asn S1444N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Thr1508Ile T1508I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - ABCA13 Arg1618Lys R1618K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCA13 Gly1791Val G1791V not reviewed Insufficiently evaluated not reviewed unknown Array rs13233225 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABCA13 Gln2100Stop Q2100X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - ABCA13 Gln2124Lys Q2124K not reviewed Insufficiently evaluated not reviewed unknown Array rs1880736 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCA13 Lys2168Asn K2168N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA13 Gln2210Arg Q2210R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ABCA13 Lys2252Gln K2252Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - ABCA13 Met2294Ile M2294I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Arg2382Gly R2382G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - ABCA13 Cys2482Trp C2482W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - ABCA13 Lys2817Gln K2817Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCA13 Ser2991Leu S2991L not reviewed Insufficiently evaluated not reviewed unknown Array rs6583546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Thr3051Ile T3051I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA13 Arg3088Trp R3088W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - ABCA13 Thr3130Ala T3130A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA13 Arg3835Trp R3835W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCA13 Phe3944Ser F3944S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA13 Leu3983Pro L3983P not reviewed Insufficiently evaluated not reviewed unknown Array rs17548783 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCA13 Arg4248Gly R4248G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Thr4289Ile T4289I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA13 Ser4555Asn S4555N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Val4565Ala V4565A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA13 Glu4653Gly E4653G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA2 Gly2396Ser G2396S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 Gly2426Ser G2426S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 Leu2232Ser L2232S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA2 Leu2262Ser L2262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA2 Arg2094Gln R2094Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA2 Arg2124Gln R2124Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA2 Thr1826Ile T1826I not reviewed Insufficiently evaluated not reviewed unknown Array rs2271862 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA2 Thr1856Ile T1856I not reviewed Insufficiently evaluated not reviewed unknown Array rs2271862 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA2 Ser1058Phe S1058F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 Ser1088Phe S1088F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 Ala1027Val A1027V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 Ala1057Val A1057V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 Gln793Pro Q793P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA2 Gln823Pro Q823P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA2 Met681Thr M681T not reviewed Insufficiently evaluated not reviewed unknown Array rs908832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 Met711Thr M711T not reviewed Insufficiently evaluated not reviewed unknown Array rs908832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 Thr586Pro T586P not reviewed Insufficiently evaluated not reviewed unknown Array rs908828 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA2 Thr616Pro T616P not reviewed Insufficiently evaluated not reviewed unknown Array rs908828 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA2 Arg442Gln R442Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA2 Arg472Gln R472Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA2 Thr423Ile T423I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA2 Thr453Ile T453I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA2 His181Pro H181P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 His211Pro H211P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA2 Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA3 Pro766Ser P766S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.099 Y - 3 - 1 N - - ABCA4 Ser2255Ile S2255I not reviewed Insufficiently evaluated not reviewed unknown Array rs6666652 2046 10758 0.190184 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 - 9 - - ABCA4 Asn1868Ile N1868I not reviewed Insufficiently evaluated not reviewed unknown Array 506 10758 0.0470348 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.77 Y - 7 Y 3 - 8 - - ABCA4 Val1433Ile V1433I pathogenic Insufficiently evaluated pathogenic recessive Array rs56357060 21 10758 0.00195204 1 0 1 1 1 1 Y - - 0 Y 1 Y 3 Y 2 Y Y - - - 0.113 Y - -4 - Stargardt Disease, Autosomal Recessive 1 149 0 220 INF 2 - 10 - - This variant was implicated in causing Stargardt Disease (progressive vision loss) in one family (in a screen of 150 with the disease), in a recessive manner. Other variants in this disease are associated with this disease but evidence supporting this particular variant is weak, possibly because this variant is very rare. ABCA4 Arg1300Gln R1300Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61750129 239 10758 0.022216 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.909 Y - 0 - 4 - 6 - - ABCA4 Leu1201Arg L1201R pathogenic Insufficiently evaluated pathogenic recessive Array rs61750126 351 10758 0.0326269 3 0 3 2 2 1 Y 0 - 0 Y 0 - 3 Y 2 Y Y Y - - 0.481 Y - 6 Y Stargardt Disease, Autosomal Recessive 1 150 0 220 INF 4 N 8 - - There is weak evidence for this variant being associated with Stargardt disease. ABCA4 Gly1183Cys G1183C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.658 Y - 7 Y 2 N - - ABCA4 Arg943Gln R943Q benign Low clinical importance, Uncertain benign unknown Array rs1801581 340 10758 0.0316044 3 0 3 2 2 ! Y ! Y 1 Y - - - - - - Y Y - - 0.922 Y - 0 - 5 N 8 0 0 This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect. ABCA4 Val931Met V931M pathogenic Insufficiently evaluated pathogenic recessive Array 18 10758 0.00167317 0 0 0 1 1 1 Y - - 0 Y 1 Y 3 Y 2 Y Y Y - - 0.363 Y - 0 - ABCA4-Related Stargardt Disease 1 1 47 0 40 INF 4 N 8 - - This variant is implicated in Stargardt Macular Dystrophy after it was found in a homozygous fashion in an individual from Saudi Arabia. ABCA4 Gly863Ala G863A pathogenic High clinical importance, pathogenic recessive Array rs76157638 53 10758 0.00492657 2 0 2 5 1 1 Y 0 - 4 Y 4 Y 4 Y 2 Y Y Y - - 0.991 Y - 1 - Stargardt Disease, Autosomal Recessive 3 45 0 50 INF 5 N 9 2 2 Various publications report this variant causes Stargardt Disease in a recessive manner, when combined with another more severe variant. Stargardt disease causes progressive vision loss and blindness. ABCA4 Arg572Gln R572Q pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 2 Y - - 0 Y 2 Y 3 Y 2 Y Y Y - - 0.999 Y - 0 - Stargardt Disease, Autosomal Recessive 2 148 0 220 INF 5 N 9 - - In a screen of the ABCR gene in 150 families with Stargardt disease, this variant appeared twice as a double mutant chromosome (with Y340D and G863A). This position is part of a CpG island and R572P was also seen once. ABCA4 Val567Met V567M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 4 - 1 - - ABCA4 His423Arg H423R not reviewed Insufficiently evaluated not reviewed unknown Array rs3112831 2778 10758 0.258226 21 0 25 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 9 - - ABCA4 Arg212His R212H not reviewed Insufficiently evaluated not reviewed unknown Array rs6657239 497 10758 0.0461982 7 0 6 2 2 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - Age-related macular degeneration 1 111 26 832 0.288 4 - 10 - - This variant has been associated with AMD. ABCA4 Arg152Gln R152Q pathogenic Insufficiently evaluated pathogenic recessive Array 35 10758 0.00325339 1 0 0 1 1 1 Y - - 0 Y 0 - 3 Y 2 Y Y - - - 0.029 Y - 0 - Stargardt Disease, Autosomal Recessive 1 7 0 50 INF 2 - 10 - - This variant was found as a double mutant homozygote in a Spanish individual with Stargardt disease. ABCA5 Met960Val M960V not reviewed Insufficiently evaluated not reviewed unknown Array rs557491 4933 10758 0.458542 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCA5 Ala832Ser A832S not reviewed Insufficiently evaluated not reviewed unknown Array rs536009 8338 10752 0.775484 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ABCA5 Gln484Arg Q484R not reviewed Insufficiently evaluated not reviewed unknown Array rs17686569 1897 10754 0.176399 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ABCA5 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array rs11544715 1648 10758 0.153188 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ABCA6 Asn1322Ser N1322S not reviewed Insufficiently evaluated not reviewed unknown Array rs2302134 5492 10756 0.510599 36 0 43 0 0 - - - - - - - - - - - - - - - - 0.928 - - 0 - 1 N - - ABCA6 Met875Ile M875I not reviewed Insufficiently evaluated not reviewed unknown Array rs7212506 8316 10754 0.773294 49 0 83 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - ABCA6 Met698Ile M698I not reviewed Insufficiently evaluated not reviewed unknown Array rs9282553 1907 10758 0.177263 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ABCA6 Asn610Tyr N610Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9282554 650 10758 0.0604202 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.216 - - 5 Y 0 N - - ABCA6 Val282Ile V282I not reviewed Insufficiently evaluated not reviewed unknown Array rs4968839 6429 10750 0.598046 45 0 56 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ABCA7 Glu188Gly E188G not reviewed Insufficiently evaluated not reviewed unknown Array rs3764645 4203 10758 0.390686 30 0 40 0 0 - - - - - - - - - - - - - - - - 0.239 - - 6 Y 0 N - - ABCA7 Gly215Ser G215S not reviewed Insufficiently evaluated not reviewed unknown Array rs72973581 494 10752 0.0459449 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.673 - - 2 - 1 N - - ABCA7 Arg285Stop R285X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCA7 Thr319Ala T319A not reviewed Insufficiently evaluated not reviewed unknown Array rs3752232 1220 10758 0.113404 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA7 His395Arg H395R not reviewed Insufficiently evaluated not reviewed unknown Array rs3764647 1153 10738 0.107376 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ABCA7 Ala414Gly A414G not reviewed Insufficiently evaluated not reviewed unknown Array rs10405305 347 10748 0.0322851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 1 - 1 N - - ABCA7 Ala676Thr A676T not reviewed Insufficiently evaluated not reviewed unknown Array rs59851484 410 10674 0.0384111 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.574 - - 1 - 1 N - - ABCA7 Gln758His Q758H not reviewed Insufficiently evaluated not reviewed unknown Array 151 10734 0.0140674 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - ABCA7 Ala877Thr A877T not reviewed Insufficiently evaluated not reviewed unknown Array rs74176364 55 10714 0.00513347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ABCA7 Arg1349Gln R1349Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745842 4397 10712 0.410474 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCA7 Phe1390Leu F1390L not reviewed Insufficiently evaluated not reviewed unknown Array rs112719199 2 10500 0.000190476 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - ABCA7 Gly1527Ala G1527A not reviewed Insufficiently evaluated not reviewed unknown Array rs3752246 9389 10756 0.872908 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA7 Ser1723Leu S1723L not reviewed Insufficiently evaluated not reviewed unknown Array rs73505232 485 10758 0.0450827 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - ABCA7 Ala2045Ser A2045S not reviewed Insufficiently evaluated not reviewed unknown Array rs4147934 7125 9416 0.756691 38 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ABCA8 Glu1476Asp E1476D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - ABCA8 Thr1225Ile T1225I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - ABCA8 Val1082Met V1082M not reviewed Insufficiently evaluated not reviewed unknown Array 69 10756 0.00641502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - ABCA8 Gly732Arg G732R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ABCA8 Val681Ile V681I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA8 Leu641Val L641V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ABCA8 Ala416Val A416V not reviewed Insufficiently evaluated not reviewed unknown Array rs35621847 514 10758 0.0477784 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - ABCA9 Gly1356Ser G1356S not reviewed Insufficiently evaluated not reviewed unknown Array rs9916254 682 10758 0.0633947 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 4 - - ABCA9 Lys1306Thr K1306T not reviewed Insufficiently evaluated not reviewed unknown Array rs2302294 5097 10758 0.473787 33 0 46 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 1 N - - ABCA9 Leu995Phe L995F not reviewed Insufficiently evaluated not reviewed unknown Array rs73370041 192 10758 0.0178472 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ABCA9 Asn785Ser N785S not reviewed Insufficiently evaluated not reviewed unknown Array rs17684521 256 10752 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 3 - 5 - - ABCA9 Arg353His R353H not reviewed Insufficiently evaluated not reviewed unknown Array rs1860447 9162 10758 0.851645 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA9 Ile288Thr I288T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744902 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 3 - 0 N - - ABCA9 Asn92Lys N92K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741903 218 10758 0.020264 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.861 - - 1 - 2 N - - ABCB1 Ser1141Thr S1141T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2229107 223 10758 0.0207288 4 0 4 1 1 - - - - - - - - - - - - - - - Y - - - -2 - 2 N - - ABCB1 Ser893Ala S893A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2032582 7345 10758 0.682748 44 0 76 20 20 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - ABCB1 Ser893Thr S893T not reviewed Insufficiently evaluated not reviewed unknown Array rs2032582 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB1 Ile836Val I836V not reviewed Insufficiently evaluated not reviewed unknown Array rs28381967 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - ABCB1 Asn21Asp N21D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9282564 793 10758 0.0737126 3 0 2 1 1 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - ABCB10 Pro563Leu P563L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 7 Y 2 N - - ABCB11 Val444Ala V444A not reviewed Insufficiently evaluated not reviewed unknown Array rs2287622 5840 9686 0.602932 45 0 67 0 0 1 Y - - - - - - - - - - Y - - - 0.002 Y Y 2 - 3 - 10 - - ABCB4 Leu1042Phe L1042F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ABCB4 Leu1089Phe L1089F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ABCB4 Ser674Leu S674L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.054 Y - 6 Y 1 N - - ABCB4 Arg652Gly R652G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230028 1788 10758 0.166202 17 0 19 0 0 1 Y - - - - - - - - - - Y - - - - Y - 6 Y 2 - 8 - - ABCB5 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCB5 Lys115Glu K115E not reviewed Insufficiently evaluated not reviewed unknown Array rs2301641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCB5 Gly365Val G365V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABCB5 Ala412Thr A412T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCB5 Ala470Thr A470T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCB5 Glu525Lys E525K not reviewed Insufficiently evaluated not reviewed unknown Array rs6461515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCB5 Ile648Thr I648T not reviewed Insufficiently evaluated not reviewed unknown Array rs60197951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCB5 Asp742Gly D742G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCB6 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60322991 541 10730 0.0504194 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - ABCB6 Arg256Gln R256Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.268 - - 0 - 1 N - - ABCB7 Ala581Val A581V not reviewed Insufficiently evaluated not reviewed unknown Array rs1340989 911 8761 0.103984 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - ABCB8 Ser39Asn S39N not reviewed Insufficiently evaluated not reviewed unknown Array rs6975981 291 10758 0.0270496 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCB8 Val135Ile V135I not reviewed Insufficiently evaluated not reviewed unknown Array rs4148844 543 10758 0.0504741 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ABCB8 Arg304Cys R304C not reviewed Insufficiently evaluated not reviewed unknown Array rs17545756 489 10758 0.0454545 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 7 - - ABCB8 Gly710Val G710V not reviewed Insufficiently evaluated not reviewed unknown Array rs59397762 488 10758 0.0453616 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABCB9 His475Leu H475L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ABCB9 His518Leu H518L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738645 8 10754 0.000743909 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.571 - - 6 Y 2 - 2 - - ABCB9 Tyr409Ser Y409S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - ABCB9 Val121Met V121M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 7 - - ABCC1 Arg633Gln R633Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10162 0.00295217 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - ABCC1 Gly671Val G671V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs45511401 454 10416 0.0435868 1 0 1 3 0 - - - - - - - - - - - - - - - Y - - - 8 Y 2 N - - ABCC10 Asp165Glu D165E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ABCC10 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCC10 Ile920Thr I920T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCC10 Val1088Met V1088M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCC11 His1306Arg H1306R not reviewed Insufficiently evaluated not reviewed unknown Array rs16945916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCC11 His1344Arg H1344R not reviewed Insufficiently evaluated not reviewed unknown Array rs16945916 2430 10758 0.225878 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCC11 Asn1277Tyr N1277Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61739606 1001 10758 0.093047 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - ABCC11 Arg995Gln R995Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59029650 200 10758 0.0185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ABCC11 Ile748Val I748V not reviewed Insufficiently evaluated not reviewed unknown Array 237 10758 0.0220301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ABCC11 Val687Ile V687I not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 1 - 5 - - ABCC11 Val648Ile V648I not reviewed Insufficiently evaluated not reviewed unknown Array rs16945930 138 10758 0.0128277 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.676 - - -4 - 1 N - - ABCC11 Thr546Met T546M not reviewed Insufficiently evaluated not reviewed unknown Array rs17822471 549 10758 0.0510318 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.275 - - 2 - 0 N - - ABCC11 Val491Ile V491I not reviewed Insufficiently evaluated not reviewed unknown Array rs59815620 155 10758 0.0144079 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ABCC11 Ala317Glu A317E not reviewed Insufficiently evaluated not reviewed unknown Array rs11863236 1551 10758 0.144172 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABCC11 Gly180Arg G180R benign Low clinical importance, Uncertain benign unknown Array rs17822931 1051 10758 0.0976947 16 0 22 2 1 1 Y 1 Y 5 Y 5 Y - - - - - Y - - 0.992 - - 6 Y 3 N 0 0 This variant is associated with dry type ear wax (a benign trait) in a recessive manner. ABCC11 Arg19His R19H not reviewed Insufficiently evaluated not reviewed unknown Array rs16945988 1375 10758 0.127812 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCC12 Ile1187Thr I1187T not reviewed Insufficiently evaluated not reviewed unknown Array rs34106426 592 10758 0.0550288 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABCC12 Gly1159Arg G1159R not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ABCC12 Arg1117Cys R1117C not reviewed Insufficiently evaluated not reviewed unknown Array rs7193955 6411 10758 0.595929 36 0 59 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ABCC12 Tyr1013His Y1013H not reviewed Insufficiently evaluated not reviewed unknown Array rs6500304 975 10758 0.0906302 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ABCC12 Thr989Ser T989S not reviewed Insufficiently evaluated not reviewed unknown Array rs6500305 977 10758 0.0908161 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ABCC12 Ile806Asn I806N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - ABCC12 His685Asn H685N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ABCC12 Asn587Tyr N587Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16945816 391 10758 0.036345 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - ABCC12 Ala102Glu A102E not reviewed Insufficiently evaluated not reviewed unknown Array rs16945874 1814 10758 0.168619 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABCC12 Ile9Leu I9L not reviewed Insufficiently evaluated not reviewed unknown Array rs16945901 410 10758 0.0381112 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - ABCC2 Tyr39Phe Y39F not reviewed Insufficiently evaluated not reviewed unknown Array rs927344 10682 10758 0.992935 56 0 111 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 3 - - ABCC2 Val417Ile V417I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2273697 2069 10758 0.192322 13 0 15 3 3 - - - - - - - - - - - - Y - - Y 0.001 Y - -4 - 3 N 10 - - Associated with increased activity of the intestinal efflux transporter ABCC2, evidenced by gene-dose related decrease of oral absorption and increased residual clearance of talinolol. ABCC2 Val449Gly V449G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - 8 Y 1 N - - ABCC2 Leu849Arg L849R not reviewed Insufficiently evaluated not reviewed unknown Array rs17222617 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - ABCC2 Gly921Ser G921S not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ABCC2 Ile1009Thr I1009T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ABCC2 Arg1181Leu R1181L not reviewed Insufficiently evaluated not reviewed unknown Array rs8187692 356 10758 0.0330917 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 4 - 2 - - ABCC2 Val1188Glu V1188E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17222723 667 10758 0.0620004 10 0 10 1 1 - - - - - - - - - - - - Y - - Y - Y - 5 Y 3 N 8 - - ABCC2 Cys1515Tyr C1515Y pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8187710 1033 10758 0.0960216 16 0 16 2 2 - - - - - - - - - - - - Y - - Y - Y - 6 Y 3 N 8 - - ABCC3 His68Tyr H68Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34926034 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 2 - 3 - - ABCC3 Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35777968 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 9 - - ABCC3 Ser607Asn S607N not reviewed Insufficiently evaluated not reviewed unknown Array rs11568608 189 10758 0.0175683 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - ABCC3 Val765Leu V765L not reviewed Insufficiently evaluated not reviewed unknown Array rs34291385 199 10758 0.0184979 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.201 - - 0 - 2 - 10 - - ABCC3 Arg1297His R1297H not reviewed Insufficiently evaluated not reviewed unknown Array rs11568591 509 10758 0.0473136 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ABCC3 Arg1348Cys R1348C not reviewed Insufficiently evaluated not reviewed unknown Array rs11568588 147 10758 0.0136642 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.346 - - 8 Y 2 - 10 - - ABCC4 Lys304Asn K304N not reviewed Insufficiently evaluated not reviewed unknown Array rs2274407 1138 10758 0.105782 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCC6 Arg1268Gln R1268Q pharmacogenetic Low clinical importance, Uncertain pharmacogenetic unknown Array rs2238472 2355 10758 0.218907 13 0 17 4 4 ! Y - - 3 Y 0 Y 1 - 0 - Y Y - Y - Y Y 0 - 4 N 8 0 0 This common polymorphism appears to not have a significant phenotypic impact. A few studies report weak but significant associations with plasma lipids (in Inuits) and thalidomide toxicity. ABCC6 Leu1097Ile L1097I not reviewed Insufficiently evaluated not reviewed unknown Array rs60707953 80 10754 0.00743909 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ABCC6 Met848Val M848V not reviewed Insufficiently evaluated not reviewed unknown Array rs6416668 10352 10758 0.962261 56 0 108 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 4 - - ABCC6 Ile742Val I742V not reviewed Insufficiently evaluated not reviewed unknown Array rs59593133 267 10758 0.0248187 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ABCC6 His632Gln H632Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8058694 4819 10758 0.447946 36 0 46 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 6 - - ABCC6 Val614Ala V614A not reviewed Insufficiently evaluated not reviewed unknown Array rs12931472 4927 10758 0.457985 37 0 50 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 10 - - ABCC8 Thr1508Pro T1508P not reviewed Insufficiently evaluated not reviewed unknown Array 1670 10758 0.155233 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - ABCC8 Ala1369Ser A1369S not reviewed Insufficiently evaluated not reviewed unknown Array rs757110 7947 10758 0.738706 45 0 77 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 10 - - ABCC8 Arg620Cys R620C not reviewed Insufficiently evaluated not reviewed unknown Array rs58241708 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ABCC9 Leu877Phe L877F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ABCC9 Leu913Phe L913F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.854 Y Y 0 - 4 N - - ABCC9 Ser625Leu S625L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 6 Y 2 N - - ABCC9 Asn330Ser N330S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.057 Y Y 0 - 2 N - - ABCD1 Val582Ile V582I not reviewed Insufficiently evaluated not reviewed unknown Array 4 8761 0.000456568 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ABCD1 Val583Glu V583E not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 2 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 5 Y 4 N - - ABCD1 Gly608Asp G608D pathogenic Insufficiently evaluated pathogenic recessive Array 28 8749 0.00320036 0 0 0 1 1 3 Y - - 1 Y 0 - 5 Y 1 Y Y - - - 0.994 Y Y 4 Y Adrenoleukodystrophy, X-Linked 1 10 0 100 INF 5 - 1 - - This variant was seen in one European boy with adrenoleukodystrophy and was not seen in 100 control chromosomes. ABCD2 Ala9Gly A9G not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - ABCD4 Glu368Lys E368K not reviewed Insufficiently evaluated not reviewed unknown Array rs3742801 3362 10758 0.312512 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCD4 Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array rs4148077 3364 10758 0.312698 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCD4 Val172Ile V172I not reviewed Insufficiently evaluated not reviewed unknown Array rs34992370 825 10758 0.0766871 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ABCD4 Ala128Val A128V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744947 825 10758 0.0766871 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABCD4 Gln59Arg Q59R not reviewed Insufficiently evaluated not reviewed unknown Array rs58272575 833 10758 0.0774307 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ABCE1 Pro243Ala P243A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10754 0.00399851 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ABCF2 Pro614Leu P614L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCF2 Arg241Lys R241K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCF3 Pro503Leu P503L not reviewed Insufficiently evaluated not reviewed unknown Array rs11706273 333 10758 0.0309537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.554 - - 7 Y 2 - 3 - - ABCG1 Met157Thr M157T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Met176Thr M176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Met179Thr M179T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.874 - - 2 - 2 N - - ABCG1 Met181Thr M181T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Met190Thr M190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Ala523Pro A523P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Ala542Pro A542P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Ala545Pro A545P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Ala547Pro A547P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Ala556Pro A556P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG1 Ala557Pro A557P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 2 N - - ABCG2 Gln141Lys Q141K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2231142 882 10758 0.0819855 10 0 12 8 8 - - - - - - - - - - - - - - Y Y 0.548 - - -2 - 2 N - - Significantly altered kintetics and increase plasma AUC with diflomotecan and rosuvastatin. ABCG2 Gln126Stop Q126X pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 10 Y 4 N 10 - - ABCG2 Val12Met V12M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2231137 483 10758 0.0448968 7 0 8 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - ABCG4 Pro15Leu P15L not reviewed Insufficiently evaluated not reviewed unknown Array 77 10752 0.00716146 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - ABCG4 Asn345Lys N345K not reviewed Insufficiently evaluated not reviewed unknown Array rs12271907 833 10758 0.0774307 11 0 17 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - ABCG5 Gln604Glu Q604E not reviewed Insufficiently evaluated not reviewed unknown Array rs6720173 2305 10758 0.214259 20 0 24 0 0 - - - - - - - - - - - - Y - - - 0.73 Y - -2 - 2 - 10 - - ABCG8 Tyr54Cys Y54C not reviewed Insufficiently evaluated not reviewed unknown Array rs4148211 3426 10758 0.318461 26 0 34 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 6 Y 2 - 8 - - ABCG8 Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - ABCG8 Thr400Lys T400K not reviewed Insufficiently evaluated not reviewed unknown Array rs4148217 2363 10758 0.21965 21 0 25 0 0 - - - - - - - - - - - - Y - - - 0.157 Y - 3 - 2 - 10 - - ABCG8 Val632Ala V632A not reviewed Insufficiently evaluated not reviewed unknown Array rs6544718 9022 10758 0.838632 56 0 107 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 5 - - ABHD1 Asp137Glu D137E not reviewed Insufficiently evaluated not reviewed unknown Array rs6715286 10574 10758 0.982896 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ABHD1 Trp371Cys W371C not reviewed Insufficiently evaluated not reviewed unknown Array rs2304678 2174 10758 0.202082 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ABHD11 Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABHD11 Val181Met V181M not reviewed Insufficiently evaluated not reviewed unknown Array rs61745525 377 10758 0.0350437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABHD12 Val68Met V68M not reviewed Insufficiently evaluated not reviewed unknown Array rs11904930 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ABHD12B Ile175Val I175V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABHD12B Ile205Val I205V not reviewed Insufficiently evaluated not reviewed unknown Array rs28564871 1896 10750 0.176372 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ABHD12B Phe227Leu F227L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABHD12B Phe257Leu F257L not reviewed Insufficiently evaluated not reviewed unknown Array rs7154732 717 10758 0.0666481 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABHD12B Pro228Ala P228A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABHD12B Pro258Ala P258A not reviewed Insufficiently evaluated not reviewed unknown Array rs34800262 986 10758 0.0916527 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABHD14A Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17849626 281 10758 0.0261201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 3 - 2 - - ABHD14A Cys61Trp C61W not reviewed Insufficiently evaluated not reviewed unknown Array rs404527 962 10758 0.0894218 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABHD15 Arg448Gln R448Q not reviewed Insufficiently evaluated not reviewed unknown Array 192 10758 0.0178472 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 3 - 1 - - ABHD15 Thr334Ala T334A not reviewed Insufficiently evaluated not reviewed unknown Array rs542939 7486 10758 0.695854 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABHD15 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - -4 - 1 - 1 - - ABHD15 Arg31Leu R31L not reviewed Insufficiently evaluated not reviewed unknown Array 207 4630 0.0447084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABHD2 Arg156Gln R156Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - ABHD2 Asp278Val D278V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - ABHD4 Trp265Stop W265X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ABHD8 Gly70Arg G70R not reviewed Insufficiently evaluated not reviewed unknown Array rs3745186 1329 10746 0.123674 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.056 - - 6 Y 0 N - - ABI3 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2233369 471 10758 0.0437814 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ABI3 Phe203Ser F203S not reviewed Insufficiently evaluated not reviewed unknown Array rs616338 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABI3 Phe209Ser F209S not reviewed Insufficiently evaluated not reviewed unknown Array rs616338 10502 10578 0.992815 35 0 70 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ABI3BP Glu314Lys E314K not reviewed Insufficiently evaluated not reviewed unknown Array 62 9596 0.00646103 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - ABI3BP Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs3732895 1435 9804 0.146369 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABL1 Ser972Leu S972L not reviewed Insufficiently evaluated not reviewed unknown Array 316 10746 0.0294063 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 9 - - ABL1 Ser991Leu S991L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229067 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 8 - - ABL2 Gly119Val G119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABL2 Gly134Val G134V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABL2 Gly140Val G140V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - ABL2 Gly155Val G155V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ABL2 Ser12Thr S12T not reviewed Insufficiently evaluated not reviewed unknown Array rs1318056 939 9920 0.0946573 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ABLIM1 Arg314Gly R314G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ABLIM1 Arg577Gly R577G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ABLIM1 Arg605Gly R605G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ABLIM1 Arg637Gly R637G not reviewed Insufficiently evaluated not reviewed unknown Array rs7091419 56 10758 0.00520543 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ABLIM1 Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABLIM1 Val518Ile V518I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABLIM1 Val546Ile V546I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABLIM1 Val578Ile V578I not reviewed Insufficiently evaluated not reviewed unknown Array rs34118174 296 10758 0.0275144 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABLIM1 Lys240Glu K240E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABLIM1 Lys503Glu K503E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABLIM1 Lys531Glu K531E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABLIM1 Lys563Glu K563E not reviewed Insufficiently evaluated not reviewed unknown Array rs34542287 294 10758 0.0273285 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABLIM3 Gly125Asp G125D not reviewed Insufficiently evaluated not reviewed unknown Array rs35907283 94 10758 0.00873768 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 3 - 3 - - ABO Cys310Tyr C310Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABO Gly268Arg G268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABO Pro257Leu P257L not reviewed Insufficiently evaluated not reviewed unknown Array rs8176745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABO Ser256Tyr S256Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - ABO Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABO Thr219Met T219M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABO Ser215Arg S215R not reviewed Insufficiently evaluated not reviewed unknown Array rs8176740 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABO Cys175Trp C175W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABO Arg156Trp R156W not reviewed Insufficiently evaluated not reviewed unknown Array rs1053878 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABO His99Arg H99R not reviewed Insufficiently evaluated not reviewed unknown Array rs8176720 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABO Ser74Pro S74P not reviewed Insufficiently evaluated not reviewed unknown Array rs512770 8092 10390 0.778826 54 0 84 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABO His63Arg H63R not reviewed Insufficiently evaluated not reviewed unknown Array rs34229678 7342 10448 0.702718 51 0 52 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABO Phe36Val F36V not reviewed Insufficiently evaluated not reviewed unknown Array rs688976 7431 10058 0.738815 54 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABP1 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array rs10156191 3405 9838 0.346107 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABP1 Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10064 0.00218601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - 1 - 2 - 1 - - ABP1 Ser332Phe S332F not reviewed Insufficiently evaluated not reviewed unknown Array rs1049742 870 10748 0.0809453 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 - 10 - - ABP1 Thr592Arg T592R not reviewed Insufficiently evaluated not reviewed unknown Array rs6943147 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABP1 His645Asp H645D not reviewed Insufficiently evaluated not reviewed unknown Array rs1049793 3711 10354 0.358412 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - ABR Lys471Arg K471R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - ABR Lys480Arg K480R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - ABR Lys517Arg K517R not reviewed Insufficiently evaluated not reviewed unknown Array rs34169260 491 10758 0.0456405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 3 - - ABR Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 10 - - ABTB1 Pro169Ser P169S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABTB1 Pro286Ser P286S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABTB1 Pro311Ser P311S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10744 0.000651526 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABTB1 Arg244His R244H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABTB1 Arg361His R361H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABTB1 Arg386His R386H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - 1 - 2 N - - ABTB2 Thr732Ala T732A not reviewed Insufficiently evaluated not reviewed unknown Array rs2473928 286 10758 0.0265849 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABTB2 Gly415Ser G415S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABTB2 His64Gln H64Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1925368 1366 10754 0.127023 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ABTB2 Arg9Leu R9L not reviewed Insufficiently evaluated not reviewed unknown Array rs113790960 142 10696 0.013276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - ACAA1 His198Gln H198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACAA1 His231Gln H231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61095322 626 10758 0.0581893 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ACAA1 Glu172Asp E172D not reviewed Insufficiently evaluated not reviewed unknown Array rs156265 1191 10758 0.110708 18 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ACACA Gly408Ser G408S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACACA Gly428Ser G428S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ACACA Gly486Ser G486S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - ACACA Gly523Ser G523S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACACA Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ACACA Arg208His R208H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ACACA Arg266His R266H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 1 - 0 N - - ACACA Arg303His R303H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACACB Ala308Thr A308T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACACB Ile552Val I552V not reviewed Insufficiently evaluated not reviewed unknown Array rs16940029 874 10758 0.0812419 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACACB Ala651Thr A651T not reviewed Insufficiently evaluated not reviewed unknown Array rs2300455 1571 10758 0.146031 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ACACB Gly1317Ser G1317S not reviewed Insufficiently evaluated not reviewed unknown Array rs60293430 815 10758 0.0757576 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACACB Asp1481Val D1481V not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACACB Glu1815Lys E1815K not reviewed Insufficiently evaluated not reviewed unknown Array rs61752535 799 10758 0.0742703 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACACB Thr2027Ile T2027I not reviewed Insufficiently evaluated not reviewed unknown Array rs17848835 1226 10758 0.113962 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ACACB Val2141Ile V2141I not reviewed Insufficiently evaluated not reviewed unknown Array rs2075260 8398 10758 0.780628 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACAD10 Gln200Arg Q200R not reviewed Insufficiently evaluated not reviewed unknown Array rs35276160 168 10758 0.0156163 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAD10 Thr216Pro T216P not reviewed Insufficiently evaluated not reviewed unknown Array rs35753710 171 10758 0.0158951 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACAD10 Ala560Gly A560G not reviewed Insufficiently evaluated not reviewed unknown Array rs35716113 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.744 - - 1 - 1 N - - ACAD10 Ala591Gly A591G not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAD10 Arg939Leu R939L not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ACAD10 Arg970Leu R970L not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACAD10 Arg1002Trp R1002W not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACAD10 Arg971Trp R971W not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ACAD10 Arg1047Gln R1047Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ACAD10 Arg1078Gln R1078Q not reviewed Insufficiently evaluated not reviewed unknown Array 168 10756 0.0156192 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAD11 Thr576Ile T576I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ACAD11 Lys414Thr K414T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACAD11 Val362Leu V362L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAD11 Arg157His R157H not reviewed Insufficiently evaluated not reviewed unknown Array rs821572 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAD8 Ser171Cys S171C pathogenic Low clinical importance, Uncertain pathogenic recessive Array 197 10758 0.018312 3 0 3 2 2 1 Y 0 Y 0 Y - - 2 Y 3 Y Y - - - 0.985 Y - 3 - Isobutyryl-CoA Dehydrogenase Deficiency 1 12 0 0 - 3 N 0 0 This variant (a.k.a S149C) was found as a compound heterozygote (with M130T) in a male newborn of European descent with isobutyryl-CoA dehydrogenase deficiency (identified by newborn screening). Lack of controls means that significance cannot be established and allele frequency cannot be estimated. Oglesbee et al. comment that IBD-deficiency may be relatively benign, most cases identified by newborn screening have remained asymptomatic, but Ferreira et al. report a symptomatic individual homozygous for this variant. ACAD9 Ala326Thr A326T not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.975 Y - 1 - 3 N - - ACAD9 Lys330Gln K330Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.487 Y - -2 - 2 N - - ACAD9 Arg477Gln R477Q not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.057 Y - 0 - 1 N - - ACADL Lys333Gln K333Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2286963 2946 10756 0.273894 23 0 25 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - ACADL Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 275 10758 0.0255624 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ACADS Arg171Trp R171W not reviewed Insufficiently evaluated not reviewed unknown Array 362 10758 0.0336494 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.587 Y - 7 Y 3 - 3 - - ACADS Trp177Arg W177R not reviewed Insufficiently evaluated not reviewed unknown Array rs57443665 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 7 Y 4 - 1 - - ACADS Gly209Ser G209S not reviewed Insufficiently evaluated not reviewed unknown Array rs1799958 2087 10758 0.193995 18 0 21 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 2 - 3 - 3 - - ACADSB Arg13Lys R13K not reviewed Insufficiently evaluated not reviewed unknown Array rs12263012 2244 7992 0.280781 15 0 15 0 0 - - - - - - - - - - - - Y - - - 0.08 Y - -3 - 2 - 1 - - ACADVL Pro65Leu P65L not reviewed Insufficiently evaluated not reviewed unknown Array rs28934585 366 10758 0.0340212 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 7 Y 3 - 8 - - ACAN Asp102Glu D102E not reviewed Insufficiently evaluated not reviewed unknown Array rs16942318 478 10586 0.045154 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACAN Arg275Gln R275Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34949187 1303 9874 0.131963 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - ACAN Arg668Gln R668Q not reviewed Insufficiently evaluated not reviewed unknown Array 128 10104 0.0126683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAN Pro864Leu P864L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743398 1459 10040 0.145319 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ACAN Ser930Ile S930I not reviewed Insufficiently evaluated not reviewed unknown Array rs938608 5876 9864 0.595702 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ACAN Ser939Thr S939T not reviewed Insufficiently evaluated not reviewed unknown Array rs938609 5528 9760 0.566393 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ACAN Thr1289Ala T1289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAN Thr1327Ala T1327A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAN Glu1394Ala E1394A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACAN Thr1508Ala T1508A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAN Ile1651Val I1651V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACAN Gly1687Arg G1687R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACAN Leu1741Phe L1741F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAN Ile1965Val I1965V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACAN Asp2221Glu D2221E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACAN Asp2259Glu D2259E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACAN Gln2386Arg Q2386R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAP1 Ile63Thr I63T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - ACAP1 Arg68Cys R68C not reviewed Insufficiently evaluated not reviewed unknown Array rs35933585 189 10758 0.0175683 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.25 - - 8 Y 2 - 3 - - ACAP1 Ala707Thr A707T not reviewed Insufficiently evaluated not reviewed unknown Array rs35985803 689 10758 0.0640454 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ACAP2 Asn618Ser N618S not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAP2 Gln497Glu Q497E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - ACAT1 Ala5Pro A5P not reviewed Insufficiently evaluated not reviewed unknown Array rs3741056 2058 9836 0.209231 15 0 19 0 0 - - - - - - - - - - - - Y - - - 0.137 Y - 2 - 2 - 3 - - ACAT2 Lys211Arg K211R not reviewed Insufficiently evaluated not reviewed unknown Array rs25683 4890 10758 0.454545 34 0 41 0 0 - - - - - - - - - - - - - - - - 0.324 - - -3 - 0 N - - ACBD3 Arg229Thr R229T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACBD3 Glu187Asp E187D not reviewed Insufficiently evaluated not reviewed unknown Array rs2306120 6401 10758 0.594999 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ACBD4 Gln245Arg Q245R not reviewed Insufficiently evaluated not reviewed unknown Array rs16939879 1045 10218 0.102271 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACBD4 Arg242Gly R242G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.62 - - 6 Y 1 N - - ACBD4 Arg258Gly R258G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACBD5 Thr428Met T428M not reviewed Insufficiently evaluated not reviewed unknown Array rs7918793 11 124 0.0887097 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACBD5 Thr463Met T463M not reviewed Insufficiently evaluated not reviewed unknown Array 625 10758 0.0580963 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACBD5 Pro288Gln P288Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41314978 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACBD5 Pro323Gln P323Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACBD5 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACBD5 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACCN1 Ala78Gly A78G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACCN1 Arg46Leu R46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACCN4 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9972 0.00010028 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACCN4 Pro614Gln P614Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6436153 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 4 Y 0 N - - ACCN4 Pro633Gln P633Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6436153 1896 10752 0.176339 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ACCN4 Arg616Leu R616L not reviewed Insufficiently evaluated not reviewed unknown Array rs11689281 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - ACCN4 Arg635Leu R635L not reviewed Insufficiently evaluated not reviewed unknown Array rs11689281 4950 10748 0.460551 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ACCN4 Val619Ala V619A not reviewed Insufficiently evaluated not reviewed unknown Array rs11695248 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ACCN4 Val638Ala V638A not reviewed Insufficiently evaluated not reviewed unknown Array rs11695248 5814 10746 0.541039 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACCS Asp59Asn D59N not reviewed Insufficiently evaluated not reviewed unknown Array rs33952257 2648 10758 0.246142 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ACCS Pro421Leu P421L not reviewed Insufficiently evaluated not reviewed unknown Array rs3107275 4474 10758 0.415877 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - ACCSL Pro382Ala P382A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9706 0.000309087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.265 - - 2 - 1 N - - ACCSL Cys529Arg C529R not reviewed Insufficiently evaluated not reviewed unknown Array rs2074051 7648 9684 0.789756 52 0 84 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ACD Val502Ala V502A not reviewed Insufficiently evaluated not reviewed unknown Array rs6979 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACD Val515Ala V515A not reviewed Insufficiently evaluated not reviewed unknown Array rs6979 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - ACD Val518Ala V518A not reviewed Insufficiently evaluated not reviewed unknown Array rs6979 6728 10758 0.625395 44 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACE Arg324Trp R324W not reviewed Insufficiently evaluated not reviewed unknown Array rs35141294 92 10758 0.00855177 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - ACE Gly639Ser G639S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ACE Asn1036Lys N1036K not reviewed Insufficiently evaluated not reviewed unknown Array rs61754074 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.904 Y - 1 - 3 N - - ACE Asn462Lys N462K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ACE Arg1286Ser R1286S not reviewed Insufficiently evaluated not reviewed unknown Array 292 10038 0.0290895 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.228 Y - 3 - 3 - 3 - - ACE Arg712Ser R712S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - ACE2 Ser19Pro S19P not reviewed Insufficiently evaluated not reviewed unknown Array 11 8761 0.00125556 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 1 N - - ACER1 Met74Val M74V not reviewed Insufficiently evaluated not reviewed unknown Array rs72981971 1000 10758 0.0929541 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - ACER2 Gln9Lys Q9K not reviewed Insufficiently evaluated not reviewed unknown Array rs10122075 64 10718 0.00597126 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 1 - - ACER2 Ala134Val A134V not reviewed Insufficiently evaluated not reviewed unknown Array rs10964136 125 10758 0.0116193 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACER3 Val52Ile V52I not reviewed Insufficiently evaluated not reviewed unknown Array rs4379869 7571 10758 0.703755 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACHE Pro592Arg P592R not reviewed Insufficiently evaluated not reviewed unknown Array rs1799806 3324 9940 0.334406 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ACIN1 Arg644His R644H not reviewed Insufficiently evaluated not reviewed unknown Array 198 10758 0.0184049 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ACIN1 Arg640Ser R640S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ACIN1 Ser478Phe S478F not reviewed Insufficiently evaluated not reviewed unknown Array rs3751501 477 10758 0.0443391 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 3 - 9 - - ACIN1 Ser467Pro S467P not reviewed Insufficiently evaluated not reviewed unknown Array rs1885097 4818 10758 0.447853 35 0 46 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 1 N - - ACIN1 Ala447Pro A447P not reviewed Insufficiently evaluated not reviewed unknown Array rs941719 10717 10758 0.996189 48 0 94 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACIN1 Ile311Met I311M not reviewed Insufficiently evaluated not reviewed unknown Array rs3811182 5342 10758 0.496561 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ACIN1 Arg257Lys R257K not reviewed Insufficiently evaluated not reviewed unknown Array rs11555803 316 10758 0.0293735 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 3 - 4 - - ACIN1 Ser181Phe S181F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 5 Y 1 N - - ACLY Glu175Asp E175D not reviewed Insufficiently evaluated not reviewed unknown Array rs2304497 1132 10758 0.105224 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ACO1 Ala395Asp A395D not reviewed Insufficiently evaluated not reviewed unknown Array rs3814519 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 1 - 9 - - ACO1 Ser436Gly S436G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - ACO1 Lys580Gln K580Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73477393 49 10758 0.00455475 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACOT11 Arg20His R20H not reviewed Insufficiently evaluated not reviewed unknown Array rs41294808 162 10758 0.0150586 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.938 - - 1 - 2 N - - ACOT11 Pro165Leu P165L not reviewed Insufficiently evaluated not reviewed unknown Array rs2304306 274 10756 0.0254742 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.314 - - 7 Y 1 N - - ACOT11 Gly202Asp G202D not reviewed Insufficiently evaluated not reviewed unknown Array rs1702003 1888 10758 0.175497 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ACOT11 Met212Ile M212I not reviewed Insufficiently evaluated not reviewed unknown Array rs2304305 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - ACOT11 Arg259His R259H not reviewed Insufficiently evaluated not reviewed unknown Array rs2304303 323 10758 0.0300242 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ACOT11 Arg314Cys R314C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ACOT11 Arg536His R536H not reviewed Insufficiently evaluated not reviewed unknown Array rs12403630 560 10758 0.0520543 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 1 N - - ACOT12 Ser473Leu S473L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ACOT12 Ala403Thr A403T not reviewed Insufficiently evaluated not reviewed unknown Array rs10371 1818 10758 0.168991 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ACOT2 His328Arg H328R not reviewed Insufficiently evaluated not reviewed unknown Array rs17845023 5668 10460 0.541874 52 0 88 0 0 - - - - - - - - - - - - - - - - 0.031 - - 1 - 0 N - - ACOT2 Cys416Phe C416F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - ACOT2 His475Arg H475R not reviewed Insufficiently evaluated not reviewed unknown Array rs7494 2177 9264 0.234996 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - ACOT4 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array 2144 9174 0.233704 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.346 - - 8 Y 0 N - - ACOT4 Gly180Ala G180A not reviewed Insufficiently evaluated not reviewed unknown Array rs45522539 192 10758 0.0178472 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ACOT4 Ala187Asp A187D not reviewed Insufficiently evaluated not reviewed unknown Array rs35724886 741 10754 0.0689046 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 - 4 - - ACOT4 Asp201Asn D201N not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACOT6 Glu166Lys E166K not reviewed Insufficiently evaluated not reviewed unknown Array rs17782052 659 10758 0.0612567 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACOX1 Arg591Cys R591C not reviewed Insufficiently evaluated not reviewed unknown Array rs35629489 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.828 Y - 8 Y 2 N - - ACOX1 Ile312Met I312M not reviewed Insufficiently evaluated not reviewed unknown Array rs1135640 5429 10758 0.504648 38 0 59 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - ACOX1 Gly101Ser G101S not reviewed Insufficiently evaluated not reviewed unknown Array rs3744032 10 128 0.078125 7 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ACOX2 Ala213Ser A213S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACOXL Arg163Trp R163W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.863 - - 7 Y 3 - 1 - - ACOXL Leu184Met L184M not reviewed Insufficiently evaluated not reviewed unknown Array rs34466366 176 10758 0.0163599 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ACOXL Ser219Leu S219L not reviewed Insufficiently evaluated not reviewed unknown Array 297 10758 0.0276074 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.253 - - 6 Y 1 N - - ACOXL Thr255Met T255M not reviewed Insufficiently evaluated not reviewed unknown Array rs1554005 1897 10750 0.176465 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - ACOXL Pro505Leu P505L not reviewed Insufficiently evaluated not reviewed unknown Array 411 10758 0.0382041 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACOXL Pro535Leu P535L not reviewed Insufficiently evaluated not reviewed unknown Array rs17041850 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - ACP1 Thr95Ile T95I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACP1 Gln106Arg Q106R not reviewed Insufficiently evaluated not reviewed unknown Array rs701 3266 10742 0.30404 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.049 - - 0 - 0 N - - ACP2 Arg29Gln R29Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2167079 4076 10736 0.379657 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACP2 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 15 10676 0.00140502 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.732 - - 7 Y 1 N - - ACP5 Val221Ile V221I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229532 483 10756 0.0449052 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.177 - - -4 - 0 N - - ACP6 Val316Met V316M not reviewed Insufficiently evaluated not reviewed unknown Array rs6593795 10607 10758 0.985964 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACPT Ala325Thr A325T not reviewed Insufficiently evaluated not reviewed unknown Array rs55716643 2530 10758 0.235174 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ACPT Ala325Asp A325D not reviewed Insufficiently evaluated not reviewed unknown Array rs55735528 2529 10758 0.235081 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ACR Met296Val M296V not reviewed Insufficiently evaluated not reviewed unknown Array rs5771002 7228 10648 0.678813 19 0 32 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - ACRC Cys4Tyr C4Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73552708 115 8759 0.0131294 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACSBG1 Met633Val M633V not reviewed Insufficiently evaluated not reviewed unknown Array rs2304824 6088 10758 0.565904 45 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSBG2 Ser96Tyr S96Y not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 5 Y 2 N - - ACSBG2 Val143Ala V143A not reviewed Insufficiently evaluated not reviewed unknown Array rs4807840 7506 10758 0.697713 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACSBG2 Lys152Arg K152R not reviewed Insufficiently evaluated not reviewed unknown Array rs33937754 1182 10758 0.109872 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - ACSBG2 Arg205Lys R205K not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ACSBG2 Gly584Asp G584D not reviewed Insufficiently evaluated not reviewed unknown Array rs17851959 317 10758 0.0294664 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACSBG2 Gly586Asp G586D not reviewed Insufficiently evaluated not reviewed unknown Array rs17851960 317 10758 0.0294664 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - ACSBG2 Arg624Lys R624K not reviewed Insufficiently evaluated not reviewed unknown Array rs17856650 907 10758 0.0843094 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ACSBG2 Glu626Gln E626Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17856651 908 10758 0.0844023 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ACSF3 Leu2Pro L2P not reviewed Insufficiently evaluated not reviewed unknown Array rs7188200 7324 10360 0.70695 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ACSF3 Ala17Pro A17P not reviewed Insufficiently evaluated not reviewed unknown Array rs11547019 287 10582 0.0271215 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ACSF3 Val372Met V372M not reviewed Insufficiently evaluated not reviewed unknown Array rs3743979 7618 10758 0.708124 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSF3 Ala486Thr A486T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSL5 Gln138Leu Q138L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ACSL5 Gln82Leu Q82L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 5 Y 0 N - - ACSL5 Gln138His Q138H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACSL5 Gln82His Q82H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - ACSL5 Arg139Gly R139G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACSL5 Arg83Gly R83G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ACSL5 Met182Val M182V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ACSL5 Met238Val M238V not reviewed Insufficiently evaluated not reviewed unknown Array rs3736946 941 10758 0.0874698 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSL5 Ala640Gly A640G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSL5 Ala696Gly A696G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSL6 Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSM2A Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59292608 1165 10758 0.108291 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ACSM2A Gln17His Q17H not reviewed Insufficiently evaluated not reviewed unknown Array 198 10752 0.0184152 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACSM2A Leu64Pro L64P not reviewed Insufficiently evaluated not reviewed unknown Array rs7187246 4180 10758 0.388548 23 0 33 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ACSM2A Glu78Lys E78K not reviewed Insufficiently evaluated not reviewed unknown Array 193 10752 0.0179501 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.529 - - 0 - 1 N - - ACSM2A Val112Met V112M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ACSM2A Asn463Asp N463D not reviewed Insufficiently evaluated not reviewed unknown Array rs9924150 2833 6860 0.412974 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ACSM2A Ser513Leu S513L not reviewed Insufficiently evaluated not reviewed unknown Array rs1133607 1157 10758 0.107548 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - ACSM2B Glu339Stop E339X not reviewed Insufficiently evaluated not reviewed unknown Array rs58301506 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ACSM2B Ile305Val I305V not reviewed Insufficiently evaluated not reviewed unknown Array 360 10750 0.0334884 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - ACSM2B Thr278Ala T278A not reviewed Insufficiently evaluated not reviewed unknown Array 1189 10758 0.110522 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ACSM2B Lys196Thr K196T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACSM2B Ile96Val I96V not reviewed Insufficiently evaluated not reviewed unknown Array rs8056693 9836 10710 0.918394 48 0 92 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACSM3 Ile21Val I21V not reviewed Insufficiently evaluated not reviewed unknown Array rs35496517 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ACSM3 Leu100Pro L100P not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 3 - 6 - - ACSM3 Lys367Asn K367N not reviewed Insufficiently evaluated not reviewed unknown Array rs5716 730 10758 0.0678565 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - ACSM3 Ser412Tyr S412Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ACSM4 Gln357Stop Q357X not reviewed Insufficiently evaluated not reviewed unknown Array rs7485773 602 9956 0.0604661 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 1 - - ACSM5 Arg65Gln R65Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9928053 794 10758 0.0738055 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSM5 Glu182Lys E182K not reviewed Insufficiently evaluated not reviewed unknown Array rs7192210 999 10758 0.0928611 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSM5 Met217Val M217V not reviewed Insufficiently evaluated not reviewed unknown Array rs59025904 1442 10758 0.13404 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSM5 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array rs73545426 672 10758 0.0624651 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ACSM5 Arg341Lys R341K not reviewed Insufficiently evaluated not reviewed unknown Array rs12932087 751 10758 0.0698085 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - ACSM5 Pro352Arg P352R not reviewed Insufficiently evaluated not reviewed unknown Array rs8062344 4347 10758 0.404071 36 0 53 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 1 N - - ACSM5 His360Arg H360R not reviewed Insufficiently evaluated not reviewed unknown Array rs12931877 30 10758 0.00278862 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ACSM5 Pro425Thr P425T not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.901 - - 4 Y 2 N - - ACSS1 Val488Met V488M not reviewed Insufficiently evaluated not reviewed unknown Array rs6050249 2456 10758 0.228295 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACSS1 Arg152Cys R152C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ACSS1 Ser62Arg S62R not reviewed Insufficiently evaluated not reviewed unknown Array rs73348757 348 10708 0.0324991 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.301 - - 3 - 1 N - - ACSS2 Ala131Val A131V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSS2 Ala181Val A181V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - ACSS2 Cys250Ser C250S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACSS2 Cys300Ser C300S not reviewed Insufficiently evaluated not reviewed unknown Array rs61359113 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - ACSS2 His377Arg H377R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSS2 His427Arg H427R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 1 - 2 N - - ACSS3 His163Tyr H163Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61745251 583 10758 0.0541922 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - ACSS3 His678Gln H678Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ACTA1 Ser143Cys S143C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.401 Y Y 3 - 3 N - - ACTBL2 Leu111Pro L111P not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.648 - - 7 Y 1 N - - ACTBL2 Glu108Lys E108K not reviewed Insufficiently evaluated not reviewed unknown Array rs73757391 277 10758 0.0257483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 0 - 2 N - - ACTL6A Ser183Thr S183T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACTL6A Ser225Thr S225T not reviewed Insufficiently evaluated not reviewed unknown Array rs34630517 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - ACTL6A Leu338Val L338V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACTL6A Leu380Val L380V not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ACTL7A Gly214Ser G214S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 2 - 2 N - - ACTL7A Val340Met V340M not reviewed Insufficiently evaluated not reviewed unknown Array rs7872077 528 10758 0.0490798 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - ACTL7A Leu343Val L343V not reviewed Insufficiently evaluated not reviewed unknown Array rs56031956 273 10758 0.0253765 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - ACTL7A Pro387Leu P387L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 3 - 2 - - ACTL7B Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs17728850 990 10758 0.0920245 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 1 N - - ACTL8 Ala3Ser A3S not reviewed Insufficiently evaluated not reviewed unknown Array rs694214 3717 10758 0.34551 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.251 - - -1 - 0 N - - ACTL9 Arg271Gln R271Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73507819 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - ACTL9 His227Asn H227N not reviewed Insufficiently evaluated not reviewed unknown Array rs4804079 5693 10756 0.529286 32 0 47 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - ACTL9 Val51Ala V51A not reviewed Insufficiently evaluated not reviewed unknown Array rs10410943 7752 10758 0.72058 35 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACTL9 Phe37Ser F37S not reviewed Insufficiently evaluated not reviewed unknown Array rs2340550 7684 10730 0.716123 33 0 57 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ACTN1 Arg291His R291H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - ACTN2 Met604Val M604V not reviewed Insufficiently evaluated not reviewed unknown Array rs35997569 235 10758 0.0218442 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ACTN3 Leu146Phe L146F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACTN3 Arg306His R306H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACTN3 Arg523Gln R523Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1671064 6712 10530 0.637417 33 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACTN3 Val625Met V625M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACTN3 Cys628Arg C628R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACTN3 Glu635Ala E635A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACTN3 Gln776Arg Q776R not reviewed Insufficiently evaluated not reviewed unknown Array rs540874 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACTN3 Arg859Cys R859C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACTR1B Ala143Val A143V not reviewed Insufficiently evaluated not reviewed unknown Array rs11692435 634 10758 0.0589329 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 1 N - - ACTR1B Met45Val M45V not reviewed Insufficiently evaluated not reviewed unknown Array 1678 10758 0.155977 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACTR5 Lys481Glu K481E not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 1 - 1 - - ACTR5 Ile483Val I483V not reviewed Insufficiently evaluated not reviewed unknown Array rs2245231 4774 10758 0.443763 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACTR6 Tyr11Stop Y11X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACTR6 Gly16Val G16V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ACTR6 Ser150Asn S150N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - ACTR6 Ser150Arg S150R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 3 - 1 N - - ACTR8 Thr56Ile T56I not reviewed Insufficiently evaluated not reviewed unknown Array rs3733082 600 10758 0.0557724 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - ACTRT2 Val213Met V213M not reviewed Insufficiently evaluated not reviewed unknown Array rs61745278 185 10754 0.0172029 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.758 - - 0 - 1 N - - ACTRT2 Leu225Trp L225W not reviewed Insufficiently evaluated not reviewed unknown Array rs72629486 248 10758 0.0230526 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ACTRT2 Gly247Arg G247R not reviewed Insufficiently evaluated not reviewed unknown Array rs3795263 1835 10756 0.170602 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - ACVR1 Lys148Asn K148N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 1 - 1 N - - ACVR1 Val132Ala V132A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 1 N - - ACVR1C Ile325Val I325V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACVR1C Ile402Val I402V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACVR1C Ile432Val I432V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACVR1C Ile482Val I482V not reviewed Insufficiently evaluated not reviewed unknown Array rs7594480 1862 10758 0.173081 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ACVR2B Gly106Ser G106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.979 - - 2 - 2 N - - ACY1 Arg386Cys R386C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 3 - 8 - - ACY1 Gly387Glu G387E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ACY3 Phe205Leu F205L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ACY3 Glu149Lys E149K not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACY3 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array rs948445 7443 10478 0.710346 49 0 77 0 0 - - - - - - - - - - - - - - - - 0.917 - - 0 - 1 N - - ADA Ala108Asp A108D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y 5 Y 5 - 8 - - ADA Lys80Arg K80R benign Low clinical importance, Likely benign recessive Array rs11555566 684 10758 0.0635806 10 0 11 2 2 1 Y 1 Y 5 Y 0 - - - - - Y Y - - - Y Y -3 - 4 N 9 0 1 This variant has a 3.5% allele frequency in 1000 genomes data. Although OMIM links this to disease, the paper they reference uses in vitro data to conclude that this is a functionally neutral polymorphism. ADA Asp8Asn D8N benign Low clinical importance, Likely benign dominant Array rs73598374 238 8058 0.0295359 1 0 1 7 7 0 Y 1 Y 5 Y - - - - - - Y Y - - - Y Y -1 - 5 N 9 0 1 This common variant is reported to reduce adenosine deaminase enzyme activity. It has been associated with an increased tendency for non-REM sleep -- more slow wave sleep, less nocturnal wakings, and a stronger negative impact of sleep deprivation. A role for this gene and variant was previously proposed for autism susceptibility, but this is controversial and was not replicated by later studies. ADAD2 Gly44Glu G44E not reviewed Insufficiently evaluated not reviewed unknown Array rs8044695 6619 8730 0.75819 42 0 67 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADAD2 Gly235Arg G235R not reviewed Insufficiently evaluated not reviewed unknown Array rs11149631 3613 10752 0.336031 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - ADAD2 Gly307Arg G307R not reviewed Insufficiently evaluated not reviewed unknown Array rs11149631 43 128 0.335938 32 0 35 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 1 N - - ADAL Gln68His Q68H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 1 - 2 - - ADAM12 Ile908Val I908V not reviewed Insufficiently evaluated not reviewed unknown Array rs41303603 270 10752 0.0251116 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAM12 Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array 124 10752 0.0115327 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 2 - - ADAM12 Gly48Arg G48R not reviewed Insufficiently evaluated not reviewed unknown Array rs3740199 6197 10758 0.576036 42 0 63 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ADAM15 Ser36Ala S36A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAM15 Lys191Thr K191T not reviewed Insufficiently evaluated not reviewed unknown Array rs6427128 9391 10758 0.872932 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAM15 Leu240Met L240M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAM15 Ser714Gly S714G not reviewed Insufficiently evaluated not reviewed unknown Array rs61751624 432 10758 0.0401562 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM15 Pro768Ser P768S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAM15 Pro769Ser P769S not reviewed Insufficiently evaluated not reviewed unknown Array rs41264285 2238 10758 0.208031 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAM17 Ala748Val A748V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM17 Arg202Gly R202G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230818 820 10756 0.0762365 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - ADAM18 Gln142Leu Q142L not reviewed Insufficiently evaluated not reviewed unknown Array rs73605945 464 10754 0.0431467 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - ADAM18 Val212Phe V212F not reviewed Insufficiently evaluated not reviewed unknown Array rs10093794 396 10746 0.0368509 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ADAM18 Lys654Arg K654R not reviewed Insufficiently evaluated not reviewed unknown Array 379 10756 0.0352361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - -3 - 0 N - - ADAM18 Ser716Thr S716T not reviewed Insufficiently evaluated not reviewed unknown Array 330 10748 0.0307034 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.074 - - -2 - 0 N - - ADAM18 Arg726Cys R726C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10736 0.000186289 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ADAM19 Cys951Tyr C951Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM19 Ala805Thr A805T not reviewed Insufficiently evaluated not reviewed unknown Array rs11466802 224 10756 0.0208256 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAM19 Ala806Thr A806T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - ADAM19 Ser740Ala S740A not reviewed Insufficiently evaluated not reviewed unknown Array rs10067096 2140 10758 0.198922 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ADAM19 Ser741Ala S741A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.264 - - -1 - 1 N - - ADAM19 Gly660Asp G660D not reviewed Insufficiently evaluated not reviewed unknown Array rs2287749 1145 10758 0.106432 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ADAM19 Gly661Asp G661D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - ADAM19 Ser284Gly S284G not reviewed Insufficiently evaluated not reviewed unknown Array rs1422795 4670 10758 0.434096 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAM19 Ser285Gly S285G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.851 - - 2 - 2 N - - ADAM2 Ile546Met I546M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - -1 - 0 N - - ADAM20 Asn560Asp N560D not reviewed Insufficiently evaluated not reviewed unknown Array rs58669540 186 10758 0.0172895 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAM20 Tyr554Cys Y554C not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM20 Gln281Lys Q281K not reviewed Insufficiently evaluated not reviewed unknown Array rs60731609 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAM21 Ser24Pro S24P not reviewed Insufficiently evaluated not reviewed unknown Array 277 10758 0.0257483 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ADAM21 Asp95Glu D95E not reviewed Insufficiently evaluated not reviewed unknown Array rs71423393 7625 10758 0.708775 39 0 54 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ADAM21 Cys109Ser C109S not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ADAM21 Ala117Gly A117G not reviewed Insufficiently evaluated not reviewed unknown Array rs3829452 816 10750 0.075907 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAM21 Phe129Cys F129C not reviewed Insufficiently evaluated not reviewed unknown Array rs72735759 603 10758 0.0560513 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 4 Y 1 N - - ADAM21 Tyr143His Y143H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - ADAM21 Ile161Val I161V not reviewed Insufficiently evaluated not reviewed unknown Array rs77892318 20 116 0.172414 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 2 - - ADAM21 Lys247Gln K247Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3829456 1583 10756 0.147174 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 1 - - ADAM21 Glu429Gln E429Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72735760 386 10758 0.0358803 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - ADAM21 His632Gln H632Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ADAM21 Gly643Glu G643E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ADAM22 Glu46Val E46V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - ADAM22 Pro81Arg P81R not reviewed Insufficiently evaluated not reviewed unknown Array rs2279542 6150 9690 0.634675 43 0 72 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ADAM28 Arg219Met R219M not reviewed Insufficiently evaluated not reviewed unknown Array rs9314282 459 10752 0.0426897 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAM28 Thr593Lys T593K not reviewed Insufficiently evaluated not reviewed unknown Array rs36041430 825 10758 0.0766871 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAM28 Met684Ile M684I not reviewed Insufficiently evaluated not reviewed unknown Array rs7829965 541 10758 0.0502882 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ADAM28 Val765Met V765M not reviewed Insufficiently evaluated not reviewed unknown Array rs7814768 10511 10754 0.977404 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAM29 Pro627Ser P627S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.462 - - 3 - 1 N - - ADAM29 Trp735Arg W735R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM29 His751Gln H751Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAM29 Gln753Arg Q753R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ADAM29 Met773Thr M773T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM29 Met782Thr M782T not reviewed Insufficiently evaluated not reviewed unknown Array rs10009483 1080 10758 0.10039 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAM30 Thr737Ala T737A not reviewed Insufficiently evaluated not reviewed unknown Array rs35273427 1427 10758 0.132645 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 0 N - - ADAM30 Leu359Pro L359P not reviewed Insufficiently evaluated not reviewed unknown Array rs2641348 1921 10758 0.178565 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.126 - - 7 Y 0 N - - ADAM32 Thr467Ser T467S not reviewed Insufficiently evaluated not reviewed unknown Array rs7845771 9366 9742 0.961404 27 0 51 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAM33 Pro748Ser P748S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAM33 Pro774Ser P774S not reviewed Insufficiently evaluated not reviewed unknown Array rs2280090 1415 10736 0.1318 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - ADAM33 Met738Thr M738T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM33 Met764Thr M764T not reviewed Insufficiently evaluated not reviewed unknown Array rs2280091 1402 10746 0.130467 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.662 - - 2 - 0 N - - ADAM33 Val684Ile V684I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAM33 Val710Ile V710I not reviewed Insufficiently evaluated not reviewed unknown Array rs3918396 704 10744 0.0655249 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - ADAM33 Met590Val M590V not reviewed Insufficiently evaluated not reviewed unknown Array rs55687415 77 10750 0.00716279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ADAM33 Pro336Ser P336S not reviewed Insufficiently evaluated not reviewed unknown Array rs41483049 388 10224 0.0379499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 3 - 1 - 5 - - ADAM33 Trp285Arg W285R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ADAM33 Thr178Ala T178A not reviewed Insufficiently evaluated not reviewed unknown Array rs3918392 529 10758 0.0491727 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ADAM7 Val244Met V244M not reviewed Insufficiently evaluated not reviewed unknown Array rs13255694 2764 10754 0.257021 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAM7 Asn638His N638H not reviewed Insufficiently evaluated not reviewed unknown Array rs13259668 3513 10758 0.326548 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAM7 Pro738Leu P738L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM8 Ile775Thr I775T not reviewed Insufficiently evaluated not reviewed unknown Array rs3008319 834 10742 0.0776392 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAM8 Phe657Leu F657L not reviewed Insufficiently evaluated not reviewed unknown Array rs2275720 8565 10750 0.796744 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAM8 Arg433Cys R433C not reviewed Insufficiently evaluated not reviewed unknown Array rs12257830 252 10700 0.0235514 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAM8 Gly360Ser G360S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM8 Trp35Arg W35R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275725 9321 10298 0.905127 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ADAM9 Val707Ile V707I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAMDEC1 Asn365Ser N365S not reviewed Insufficiently evaluated not reviewed unknown Array rs3765124 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMDEC1 Asn444Ser N444S not reviewed Insufficiently evaluated not reviewed unknown Array rs3765124 3672 10758 0.341327 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.218 - - 0 - 0 N - - ADAMTS1 Lys953Ile K953I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ADAMTS1 Lys952Asn K952N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.337 - - 1 - 1 N - - ADAMTS1 Lys952Stop K952X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ADAMTS1 Asp939Gly D939G not reviewed Insufficiently evaluated not reviewed unknown Array rs55641247 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 1 - 1 - - ADAMTS1 Asp782Gly D782G not reviewed Insufficiently evaluated not reviewed unknown Array rs71317487 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - ADAMTS1 Arg703His R703H not reviewed Insufficiently evaluated not reviewed unknown Array rs56251528 479 10758 0.044525 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ADAMTS1 Ala227Pro A227P not reviewed Insufficiently evaluated not reviewed unknown Array rs428785 8720 10752 0.811012 48 0 78 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS10 His1101Gln H1101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7252299 10756 10758 0.999814 53 0 106 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - ADAMTS10 Gly1065Ser G1065S not reviewed Insufficiently evaluated not reviewed unknown Array 55 8904 0.006177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ADAMTS10 Ala862Ser A862S not reviewed Insufficiently evaluated not reviewed unknown Array rs10418929 351 10750 0.0326512 6 0 7 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 4 - 1 - - ADAMTS10 Thr134Ser T134S not reviewed Insufficiently evaluated not reviewed unknown Array rs7255721 8368 10636 0.786762 45 0 80 0 0 2 Y - - - - - - - - - - Y - - - 0.001 Y Y -2 - 3 - 1 - - ADAMTS12 Thr1495Ile T1495I not reviewed Insufficiently evaluated not reviewed unknown Array rs25754 4955 10758 0.460587 42 0 57 0 0 - - - - - - - - - - - - - - - - 0.17 - - 3 - 0 N - - ADAMTS12 Asn1468Ser N1468S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - ADAMTS12 Thr1201Ile T1201I not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS12 Trp1177Arg W1177R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813474 835 10758 0.0776167 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.073 - - 7 Y 0 N - - ADAMTS12 Arg1000Gln R1000Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13362345 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 1 - 3 - - ADAMTS12 Arg705Lys R705K not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ADAMTS12 Thr487Ile T487I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - ADAMTS12 Thr154Met T154M not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - 2 - 2 N - - ADAMTS12 Gln110Glu Q110E not reviewed Insufficiently evaluated not reviewed unknown Array rs16891862 119 10758 0.0110615 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - ADAMTS12 Leu9Phe L9F not reviewed Insufficiently evaluated not reviewed unknown Array 210 10758 0.0195204 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ADAMTS13 Arg7Trp R7W not reviewed Insufficiently evaluated not reviewed unknown Array rs34024143 1069 10758 0.0993679 7 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 - 8 - - ADAMTS13 Gln417Glu Q417E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ADAMTS13 Gln448Glu Q448E not reviewed Insufficiently evaluated not reviewed unknown Array rs2301612 3178 10704 0.296898 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 10 - - ADAMTS13 Pro426Leu P426L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 3 - 2 - - ADAMTS13 Pro457Leu P457L pathogenic Insufficiently evaluated pathogenic recessive Array 19 10660 0.00178236 0 0 0 1 1 2 Y 0 - 0 Y 0 - 5 Y 4 Y Y - - - 0.999 Y - 7 Y Familial Thrombotic Thrombocytopenia Purpura 1 8 0 50 INF 4 - 9 - - This variant was seen in a 20yo female with Thrombotic thrombocytopenic purpura together with P353L. Onset was 18yo, no affected family members, also suffers from epileptic seizures. ADAMTS13 Pro587Ala P587A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ADAMTS13 Pro618Ala P618A not reviewed Insufficiently evaluated not reviewed unknown Array rs28647808 676 10758 0.062837 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 2 - 3 - 10 - - ADAMTS13 Ala869Val A869V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ADAMTS13 Ala900Val A900V not reviewed Insufficiently evaluated not reviewed unknown Array rs685523 1212 10758 0.11266 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 10 - - ADAMTS13 Ser872Leu S872L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ADAMTS13 Ser903Leu S903L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 10 - - ADAMTS14 His79Tyr H79Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74141809 195 10756 0.0181294 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.87 - - -1 - 2 N - - ADAMTS14 Gly156Glu G156E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ADAMTS14 Arg192Trp R192W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ADAMTS14 Leu590Pro L590P not reviewed Insufficiently evaluated not reviewed unknown Array rs10823607 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS14 Leu593Pro L593P not reviewed Insufficiently evaluated not reviewed unknown Array rs10823607 8688 10758 0.807585 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ADAMTS14 Leu937Met L937M not reviewed Insufficiently evaluated not reviewed unknown Array rs12774070 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - -3 - 1 N - - ADAMTS14 Leu940Met L940M not reviewed Insufficiently evaluated not reviewed unknown Array rs12774070 2061 10744 0.191828 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ADAMTS14 Ser1017Asn S1017N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - ADAMTS14 Ser1020Asn S1020N not reviewed Insufficiently evaluated not reviewed unknown Array rs10999516 1759 10758 0.163506 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTS14 Glu1049Gly E1049G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS14 Glu1052Gly E1052G not reviewed Insufficiently evaluated not reviewed unknown Array rs4747096 1813 10758 0.168526 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADAMTS14 Pro1108Ser P1108S not reviewed Insufficiently evaluated not reviewed unknown Array rs61573157 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ADAMTS14 Pro1111Ser P1111S not reviewed Insufficiently evaluated not reviewed unknown Array rs61573157 816 10758 0.0758505 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAMTS15 Asn511Ser N511S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS15 Asn623Ser N623S not reviewed Insufficiently evaluated not reviewed unknown Array rs11222114 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ADAMTS15 Gly763Ser G763S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS16 Pro90Ala P90A not reviewed Insufficiently evaluated not reviewed unknown Array rs2086310 7753 10188 0.760993 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS16 Ser104Pro S104P not reviewed Insufficiently evaluated not reviewed unknown Array rs1019747 4444 10098 0.440087 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAMTS16 Met110Val M110V not reviewed Insufficiently evaluated not reviewed unknown Array rs1863968 5558 10022 0.55458 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - ADAMTS16 Ala486Thr A486T not reviewed Insufficiently evaluated not reviewed unknown Array rs16875054 280 9714 0.0288244 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.069 - - 1 - 1 - 3 - - ADAMTS16 Val498Leu V498L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ADAMTS16 Arg859Leu R859L not reviewed Insufficiently evaluated not reviewed unknown Array rs16875122 187 9994 0.0187112 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.387 - - 6 Y 1 N - - ADAMTS16 Thr942Lys T942K not reviewed Insufficiently evaluated not reviewed unknown Array 41 10180 0.0040275 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.548 - - 3 - 1 N - - ADAMTS17 Asn1094Ser N1094S not reviewed Insufficiently evaluated not reviewed unknown Array rs2573652 7701 10758 0.715839 44 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTS17 Ser724Asn S724N not reviewed Insufficiently evaluated not reviewed unknown Array rs73474408 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS17 Ala551Thr A551T not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS17 Met482Thr M482T not reviewed Insufficiently evaluated not reviewed unknown Array rs28567966 1824 10758 0.169548 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS17 Thr446Ile T446I not reviewed Insufficiently evaluated not reviewed unknown Array rs72755233 773 10758 0.0718535 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAMTS17 Ser216Leu S216L not reviewed Insufficiently evaluated not reviewed unknown Array rs7496668 3904 10694 0.365065 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADAMTS18 Ser1159Thr S1159T not reviewed Insufficiently evaluated not reviewed unknown Array rs3743749 1806 10758 0.167875 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.695 - - -2 - 0 N - - ADAMTS18 Ser1080Arg S1080R not reviewed Insufficiently evaluated not reviewed unknown Array rs35478105 3875 10758 0.360197 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 0 N - - ADAMTS18 Ala946Ser A946S not reviewed Insufficiently evaluated not reviewed unknown Array rs12935394 1008 10758 0.0936977 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ADAMTS18 Leu769Ile L769I not reviewed Insufficiently evaluated not reviewed unknown Array rs9930984 5619 10758 0.522309 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAMTS18 Leu626Ile L626I not reviewed Insufficiently evaluated not reviewed unknown Array rs11640912 3432 10758 0.319018 34 0 42 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - ADAMTS18 Tyr191His Y191H not reviewed Insufficiently evaluated not reviewed unknown Array rs11643211 2750 10758 0.255624 31 0 34 0 0 - - - - - - - - - - - - - - - - 0.138 - - -1 - 0 N - - ADAMTS18 Ala54Thr A54T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ADAMTS19 Ser367Gly S367G not reviewed Insufficiently evaluated not reviewed unknown Array rs6595908 10712 10758 0.995724 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS19 Leu893Phe L893F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 0 - 1 N - - ADAMTS19 Tyr1089Phe Y1089F not reviewed Insufficiently evaluated not reviewed unknown Array rs11749126 1447 10758 0.134505 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.243 - - -4 - 0 N - - ADAMTS19 Thr1194Ile T1194I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - ADAMTS2 Pro1177Ser P1177S not reviewed Insufficiently evaluated not reviewed unknown Array rs1054480 2343 10756 0.217832 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ADAMTS2 Asp845Asn D845N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAMTS2 Arg827Gln R827Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35445112 294 10756 0.0273336 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.876 - - 0 - 3 - 3 - - ADAMTS2 Val245Ile V245I not reviewed Insufficiently evaluated not reviewed unknown Array rs398829 3482 10756 0.323726 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ADAMTS2 Asp234Gly D234G not reviewed Insufficiently evaluated not reviewed unknown Array rs59567206 263 10756 0.0244515 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAMTS2 Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ADAMTS20 Lys1581Thr K1581T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS3 Pro1148Leu P1148L not reviewed Insufficiently evaluated not reviewed unknown Array rs35780102 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS3 Ser1074Pro S1074P not reviewed Insufficiently evaluated not reviewed unknown Array rs35864003 236 10758 0.0219372 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - ADAMTS3 Gly298Arg G298R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS3 Gly231Ser G231S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS3 Arg138Lys R138K not reviewed Insufficiently evaluated not reviewed unknown Array rs788908 7385 10758 0.686466 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ADAMTS4 Pro720Ala P720A not reviewed Insufficiently evaluated not reviewed unknown Array rs41270041 1020 10758 0.0948132 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - ADAMTS4 Gln626Arg Q626R not reviewed Insufficiently evaluated not reviewed unknown Array rs4233367 6469 10758 0.60132 52 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTS5 Arg907Gln R907Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 0 - 2 N - - ADAMTS5 Leu692Pro L692P not reviewed Insufficiently evaluated not reviewed unknown Array rs226794 9823 10758 0.913088 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ADAMTS5 Arg614His R614H not reviewed Insufficiently evaluated not reviewed unknown Array rs2830585 1394 10758 0.129578 13 0 15 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - ADAMTS5 His310Tyr H310Y not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ADAMTS5 Gly138Ala G138A not reviewed Insufficiently evaluated not reviewed unknown Array rs457947 2020 10756 0.187802 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAMTS6 Pro739Thr P739T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAMTS7 Gly1583Ala G1583A not reviewed Insufficiently evaluated not reviewed unknown Array rs7495616 7795 10730 0.726468 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAMTS7 Ala1512Val A1512V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10366 0.00742813 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS7 Gly1414Ser G1414S not reviewed Insufficiently evaluated not reviewed unknown Array rs2929155 7930 10708 0.740568 16 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS7 Met1347Thr M1347T not reviewed Insufficiently evaluated not reviewed unknown Array 30 7972 0.00376317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS7 Ser1324Leu S1324L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS7 Thr1319Ala T1319A not reviewed Insufficiently evaluated not reviewed unknown Array rs11630236 2342 8888 0.263501 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 4 - - ADAMTS7 Leu1293Pro L1293P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS7 Leu1292Pro L1292P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS7 Gly1288Arg G1288R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS7 Pro1270Ser P1270S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10720 0.000466417 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS7 Glu1259Lys E1259K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Pro1242Leu P1242L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10734 0.00521707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS7 His1101Arg H1101R not reviewed Insufficiently evaluated not reviewed unknown Array rs28699256 3899 10664 0.365623 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAMTS7 Trp946Stop W946X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ADAMTS7 Arg851Gln R851Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10750 0.00613953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Arg596His R596H not reviewed Insufficiently evaluated not reviewed unknown Array rs2277549 3184 10754 0.296076 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAMTS7 Thr307Met T307M not reviewed Insufficiently evaluated not reviewed unknown Array rs2127898 2858 10758 0.265663 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS7 Ser214Pro S214P not reviewed Insufficiently evaluated not reviewed unknown Array rs3825807 3716 10746 0.345803 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAMTS8 Thr792Ala T792A not reviewed Insufficiently evaluated not reviewed unknown Array rs11222085 1357 10156 0.133616 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAMTS8 Ala525Val A525V not reviewed Insufficiently evaluated not reviewed unknown Array rs2131535 7495 10132 0.739735 55 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAMTS8 Glu351Lys E351K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10252 0.000975419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS8 Asn264Ser N264S not reviewed Insufficiently evaluated not reviewed unknown Array rs2291348 645 9898 0.0651647 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTS8 Glu78Asp E78D not reviewed Insufficiently evaluated not reviewed unknown Array rs7927048 2677 6972 0.383964 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAMTS9 Asp1674Glu D1674E not reviewed Insufficiently evaluated not reviewed unknown Array rs6787633 566 10758 0.052612 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAMTS9 Tyr1614Cys Y1614C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS9 Ser96Thr S96T not reviewed Insufficiently evaluated not reviewed unknown Array rs36115950 1107 10758 0.1029 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAMTSL1 Ser242Asn S242N not reviewed Insufficiently evaluated not reviewed unknown Array rs776755 900 10756 0.0836742 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTSL1 Leu823Ile L823I not reviewed Insufficiently evaluated not reviewed unknown Array rs934472 4507 9994 0.450971 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAMTSL1 Glu990Ala E990A not reviewed Insufficiently evaluated not reviewed unknown Array rs41268983 1140 9704 0.117477 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAMTSL1 Asp1409Gly D1409G not reviewed Insufficiently evaluated not reviewed unknown Array rs41304755 1797 10252 0.175283 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ADAMTSL1 Lys1594Gln K1594Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAMTSL1 Lys1594Met K1594M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAMTSL2 Val364Ile V364I not reviewed Insufficiently evaluated not reviewed unknown Array rs35767802 24 128 0.1875 15 0 19 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 - 1 - - ADAMTSL3 His146Arg H146R not reviewed Insufficiently evaluated not reviewed unknown Array rs4483821 6072 10758 0.564417 46 0 74 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - ADAMTSL3 Leu290Val L290V not reviewed Insufficiently evaluated not reviewed unknown Array rs4144691 9138 10758 0.849414 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTSL3 Val661Leu V661L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4842838 6665 10758 0.619539 51 0 82 0 0 - - - - - - - - - - - - - - Y Y - - - 0 - 2 N - - ADAMTSL3 Gly713Arg G713R not reviewed Insufficiently evaluated not reviewed unknown Array rs34047645 1253 10758 0.116471 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ADAMTSL3 Glu741Lys E741K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - ADAMTSL3 Leu869Phe L869F not reviewed Insufficiently evaluated not reviewed unknown Array rs2277849 3135 10758 0.291411 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.148 - - 0 - 0 N - - ADAMTSL3 Thr1370Ala T1370A not reviewed Insufficiently evaluated not reviewed unknown Array rs17158450 584 10758 0.0542852 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 1 N - - ADAMTSL3 Met1558Thr M1558T not reviewed Insufficiently evaluated not reviewed unknown Array rs7175910 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 2 - 2 - 3 - - ADAMTSL3 Ile1625Met I1625M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - ADAMTSL3 Thr1660Ile T1660I not reviewed Insufficiently evaluated not reviewed unknown Array rs950169 2067 10758 0.192136 15 0 20 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ADAMTSL4 Glu44Lys E44K not reviewed Insufficiently evaluated not reviewed unknown Array rs41317513 305 10706 0.0284887 2 0 1 0 0 - - - - - - - - - - - - Y - - - 0.051 - - 0 - 0 N - - ADAMTSL4 Ala193Pro A193P not reviewed Insufficiently evaluated not reviewed unknown Array rs41317515 5873 10758 0.545919 44 0 64 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 0 N - - ADAMTSL4 Ser268Phe S268F not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.961 - - 5 Y 2 N - - ADAMTSL4 Arg309Gln R309Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10728 0.00121178 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.526 - - 0 - 1 N - - ADAMTSL4 Met838Val M838V not reviewed Insufficiently evaluated not reviewed unknown Array rs74124919 724 10758 0.0672988 4 0 4 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 0 - 1 N - - ADAMTSL4 Arg1028His R1028H not reviewed Insufficiently evaluated not reviewed unknown Array rs56411234 236 10758 0.0219372 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - - 1 - 0 N - - ADAMTSL5 Leu319Gln L319Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 8784 0.0042122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADAP1 Gly241Ser G241S not reviewed Insufficiently evaluated not reviewed unknown Array rs10256887 9381 10728 0.874441 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAR Lys384Arg K384R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229857 6504 10758 0.604573 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ADAR Lys89Arg K89R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAR Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array rs1466731 10710 10758 0.995538 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADARB2 Ala626Thr A626T not reviewed Insufficiently evaluated not reviewed unknown Array rs2271275 6009 10752 0.558873 39 0 60 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ADARB2 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array rs3793733 193 10758 0.0179401 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - ADAT1 Ile226Val I226V not reviewed Insufficiently evaluated not reviewed unknown Array rs56029288 769 10758 0.0714817 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ADAT1 Thr203Asn T203N not reviewed Insufficiently evaluated not reviewed unknown Array rs3743599 453 10758 0.0421082 12 0 17 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - ADAT1 His167Asn H167N not reviewed Insufficiently evaluated not reviewed unknown Array rs3743598 3962 10758 0.368284 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAT2 Glu187Asp E187D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737651 392 9550 0.0410471 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 1 - - ADC His188Asn H188N not reviewed Insufficiently evaluated not reviewed unknown Array 366 10758 0.0340212 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCK1 Ser350Gly S350G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCK1 Ser418Gly S418G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCK2 Ser66Gly S66G not reviewed Insufficiently evaluated not reviewed unknown Array rs2968558 2957 10676 0.276976 22 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADCK2 Ser307Pro S307P not reviewed Insufficiently evaluated not reviewed unknown Array rs1140034 3080 10758 0.286299 24 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADCK2 Ser483Phe S483F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADCK2 Pro622Leu P622L not reviewed Insufficiently evaluated not reviewed unknown Array rs1046515 1168 10758 0.10857 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ADCK4 Thr311Arg T311R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADCK4 Thr352Arg T352R not reviewed Insufficiently evaluated not reviewed unknown Array rs36012476 401 10758 0.0372746 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADCK4 His133Arg H133R not reviewed Insufficiently evaluated not reviewed unknown Array rs3865452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADCK4 His174Arg H174R not reviewed Insufficiently evaluated not reviewed unknown Array rs3865452 4833 10758 0.449247 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADCK5 Arg17Ser R17S not reviewed Insufficiently evaluated not reviewed unknown Array rs6599528 5856 10756 0.54444 21 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADCY10 Pro1353Leu P1353L not reviewed Insufficiently evaluated not reviewed unknown Array rs72697797 317 10758 0.0294664 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ADCY10 Ile709Val I709V not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADCY10 Ile697Val I697V not reviewed Insufficiently evaluated not reviewed unknown Array rs2071921 4498 10758 0.418107 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ADCY10 Thr234Met T234M not reviewed Insufficiently evaluated not reviewed unknown Array rs16859886 1149 10758 0.106804 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADCY10 Glu7Ala E7A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - ADCY2 Val147Leu V147L not reviewed Insufficiently evaluated not reviewed unknown Array rs13166360 2097 10758 0.194925 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.894 - - 0 - 1 N - - ADCY2 Ser681Cys S681C not reviewed Insufficiently evaluated not reviewed unknown Array rs52827085 429 10758 0.0398773 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ADCY2 Val1049Ile V1049I not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADCY3 Ser107Pro S107P not reviewed Insufficiently evaluated not reviewed unknown Array rs11676272 6438 10758 0.598438 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADCY6 Leu677Met L677M not reviewed Insufficiently evaluated not reviewed unknown Array 136 10676 0.0127389 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.068 - - -3 - 0 N - - ADCY6 Ala674Ser A674S not reviewed Insufficiently evaluated not reviewed unknown Array rs3730071 255 10678 0.0238809 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.069 - - -1 - 0 N - - ADCY7 Gly934Ser G934S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - ADCY9 Asn1154Ser N1154S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731445 487 10758 0.0452686 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCY9 Ile772Met I772M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230739 2781 10758 0.258505 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ADCY9 Gly666Stop G666X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ADCY9 Ala381Asp A381D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - ADCY9 Thr236Ala T236A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731442 69 10752 0.00641741 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - ADCYAP1 Asp54Gly D54G not reviewed Insufficiently evaluated not reviewed unknown Array rs2856966 1738 10408 0.166987 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 1 - 10 - - ADD1 Gly460Trp G460W pathogenic Insufficiently evaluated pathogenic unknown Array rs4961 1686 10758 0.156721 25 0 28 3 3 - - - - - - - - - - - - - Y - Y 0.995 - - 7 Y 3 N - - This variant is associated with salt-sensitivity in patients with hypertension. ADD1 Ser586Cys S586C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - ADD1 Ser617Cys S617C not reviewed Insufficiently evaluated not reviewed unknown Array rs4963 1942 10758 0.180517 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADD2 Glu335Asp E335D not reviewed Insufficiently evaluated not reviewed unknown Array rs4982 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.555 - - -2 - 2 - 5 - - ADD2 Glu335Val E335V not reviewed Insufficiently evaluated not reviewed unknown Array rs61030669 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 5 Y 1 N - - ADD2 Ser98Cys S98C not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 3 - 3 - - ADD2 Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array rs4986 242 10758 0.0224949 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 3 - 4 - - ADD3 Met603Ile M603I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADD3 Met635Ile M635I not reviewed Insufficiently evaluated not reviewed unknown Array rs73352950 219 10758 0.0203569 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - ADFP Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ADH1B Arg370Cys R370C protective Insufficiently evaluated protective unknown Array rs2066702 682 10758 0.0633947 7 0 7 0 0 - - - - - - - - - - - - - Y - Y 0.995 - - 8 Y 3 N 9 - - ADH1B His48Arg H48R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1229984 10359 10758 0.962911 49 0 95 0 0 1 Y - - - - - - - - - - - - Y Y - - - 1 - 2 N - - ADH1C Ile350Val I350V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - Y - - - -4 - 3 N - - ADH1C Arg272Gln R272Q pathogenic Low clinical importance, Uncertain pathogenic unknown Array 0 0 0 7 7 2 Y 5 - 0 - 0 - 3 Y 4 - - Y - - - - - 0 - 3 N 0 0 The ADH1C gene encodes the gamma subunit of a protein that will homodimerize or heterodimerize to oxidize ethanol in the liver. The Arg272Gln change occurs in high linkage disequilibrium with a change of Ile to Val at aa 350; together, the 272Gln and 350Val comprise the ADH1C-2 genotype. The rs1693482 SNP has been suggested to have a pathogenic effect on alcoholism due to the decreased ethanol metabolism in the liver. It has also been shown to work in concert with other mutations in ADH and ADHL genes. ADH4 Val374Ile V374I not reviewed Insufficiently evaluated not reviewed unknown Array rs1126673 7859 10750 0.73107 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ADH4 Ile309Val I309V not reviewed Insufficiently evaluated not reviewed unknown Array rs1126671 7874 10758 0.73192 49 0 83 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ADH5 Pro305Thr P305T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ADH6 Gln327Glu Q327E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADH6 Cys2Ser C2S not reviewed Insufficiently evaluated not reviewed unknown Array rs4699735 10755 10758 0.999721 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADH7 Lys238Glu K238E not reviewed Insufficiently evaluated not reviewed unknown Array rs59534319 327 10758 0.030396 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ADH7 Gly92Ala G92A not reviewed Insufficiently evaluated not reviewed unknown Array rs1573496 856 10758 0.0795687 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADHFE1 Ala3Asp A3D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADHFE1 Cys449Arg C449R not reviewed Insufficiently evaluated not reviewed unknown Array rs1060242 6009 10758 0.558561 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ADI1 Asp109Ala D109A not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 5 Y 2 N - - ADI1 Arg96Cys R96C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ADIPOQ Tyr111His Y111H not reviewed Insufficiently evaluated not reviewed unknown Array rs17366743 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - ADM Ser50Arg S50R not reviewed Insufficiently evaluated not reviewed unknown Array rs5005 236 10758 0.0219372 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - ADNP Lys1042Gln K1042Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - ADNP Ile359Val I359V not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADNP2 Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array rs78503084 78 10758 0.00725042 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - 1 - 1 N - - ADNP2 Ala114Ser A114S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADNP2 Thr203Ser T203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADNP2 Ile392Val I392V not reviewed Insufficiently evaluated not reviewed unknown Array rs36083942 169 10758 0.0157092 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADNP2 Asn574Asp N574D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - ADNP2 Gly986Glu G986E not reviewed Insufficiently evaluated not reviewed unknown Array rs75868400 75 10758 0.00697156 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 6 Y 2 N - - ADNP2 Pro1029His P1029H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 5 Y 0 N - - ADO Gly25Trp G25W not reviewed Insufficiently evaluated not reviewed unknown Array rs2236295 2756 10550 0.261232 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ADO Pro39Ala P39A not reviewed Insufficiently evaluated not reviewed unknown Array rs10995311 3274 10638 0.307765 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADORA2A Gly147Ser G147S not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADORA2B Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array rs61755963 79 10756 0.00734474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADORA3 Arg208Cys R208C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADORA3 Arg289Cys R289C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADPGK Ser437Leu S437L not reviewed Insufficiently evaluated not reviewed unknown Array rs34149613 962 9776 0.0984043 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADPGK Lys184Arg K184R not reviewed Insufficiently evaluated not reviewed unknown Array rs8024644 1810 10028 0.180495 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.296 - - -3 - 0 N - - ADPRHL1 Ala7Val A7V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 2 - - ADPRHL2 Glu209Lys E209K not reviewed Insufficiently evaluated not reviewed unknown Array rs2236387 962 10758 0.0894218 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ADRA1A Leu446His L446H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADRA1A Arg427Leu R427L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ADRA1A Thr432Asn T432N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADRA1A Glu465Asp E465D not reviewed Insufficiently evaluated not reviewed unknown Array rs2229126 262 10758 0.024354 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ADRA1A Cys347Arg C347R not reviewed Insufficiently evaluated not reviewed unknown Array rs1048101 5910 10758 0.549359 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ADRA1A Ser154Ala S154A not reviewed Insufficiently evaluated not reviewed unknown Array rs61757009 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.793 - - -1 - 2 - 1 - - ADRA1D Ala440Thr A440T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ADRB1 Ser49Gly S49G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801252 1442 10530 0.136942 1 0 1 2 2 - - - - - - - - - - - - - Y - Y - - - 2 - 2 N - - Better outcome from treatment with atenolol vs. verapamil. ADRB1 Gly389Arg G389R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801253 6931 10184 0.680577 3 0 4 1 1 - - - - - - - - - - - - - - - Y - - - 6 Y 1 N - - Better outcome from treatment with atenolol vs. verapamil. ADRB2 Gly16Arg G16R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1042713 4445 10758 0.413181 34 0 44 4 4 5 Y - - - - - - - - - - Y - - Y 0.001 Y - 6 Y 3 N 10 - - ADRB2 Glu27Gln E27Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1042714 7115 10758 0.661368 44 0 71 0 0 3 Y - - - - - - - - - - Y - - Y 0.001 Y - -2 - 3 N 10 - - ADRB3 Trp64Arg W64R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4994 909 10748 0.0845739 10 0 11 1 1 - - - - - - - - - - - - - Y - Y - - - 7 Y 2 N - - ADRBK1 Arg311Cys R311C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 8 Y 0 N - - ADRM1 Lys390Thr K390T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10722 0.000373064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.744 - - 3 - 1 N - - ADSSL1 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 2686 9892 0.271533 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.589 - - -3 - 0 N - - ADSSL1 Pro58Arg P58R not reviewed Insufficiently evaluated not reviewed unknown Array rs73360625 166 10660 0.0155722 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADSSL1 Gly292Ser G292S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ADSSL1 Gly335Ser G335S not reviewed Insufficiently evaluated not reviewed unknown Array rs74089211 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AEBP1 Pro273Thr P273T not reviewed Insufficiently evaluated not reviewed unknown Array rs2537188 3837 10590 0.362323 33 0 36 0 0 - - - - - - - - - - - - - - - - 0.759 - - 4 Y 0 N - - AEBP1 Lys1133Glu K1133E not reviewed Insufficiently evaluated not reviewed unknown Array rs13928 4893 10758 0.454824 33 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AEN Pro15Leu P15L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743477 813 10758 0.0755717 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.907 - - 7 Y 1 N - - AEN Glu49Asp E49D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.35 - - -2 - 2 - 10 - - AEN Ser88Cys S88C not reviewed Insufficiently evaluated not reviewed unknown Array rs8026929 988 10758 0.0918386 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.648 - - 3 - 0 N - - AEN Asn140Asp N140D not reviewed Insufficiently evaluated not reviewed unknown Array rs8027765 8738 10758 0.812233 52 0 89 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AEN Val172Leu V172L not reviewed Insufficiently evaluated not reviewed unknown Array rs61752779 243 10758 0.0225878 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AFAP1 Val518Met V518M not reviewed Insufficiently evaluated not reviewed unknown Array rs41264705 16 128 0.125 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - AFAP1 Val602Met V602M not reviewed Insufficiently evaluated not reviewed unknown Array rs41264705 2348 10758 0.218256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AFAP1 Ser403Cys S403C not reviewed Insufficiently evaluated not reviewed unknown Array rs28406288 1702 10758 0.158208 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 1 N - - AFAP1 Gln340Glu Q340E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - AFAP1 Glu107Gly E107G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - AFAP1 Asp78Glu D78E not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.802 - - -2 - 1 N - - AFAP1L1 Val693Ala V693A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.28 - - 2 - 1 N - - AFAP1L2 Glu530Lys E530K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - AFAP1L2 Thr522Ser T522S not reviewed Insufficiently evaluated not reviewed unknown Array rs2781806 492 10758 0.0457334 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 1 - 3 - - AFAP1L2 Leu412Phe L412F not reviewed Insufficiently evaluated not reviewed unknown Array rs73365341 1369 10754 0.127301 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - AFF1 Pro153Thr P153T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734711 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.801 - - 4 Y 1 N - - AFF1 Gln343Pro Q343P not reviewed Insufficiently evaluated not reviewed unknown Array 10 10744 0.000930752 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - AFF1 Val704Ile V704I not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AFF3 Arg961Lys R961K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - AFF3 Arg986Lys R986K not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - AFF3 Pro925Arg P925R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.454 - - 5 Y 1 N - - AFF3 Pro950Arg P950R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AFF3 Asn494Ser N494S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFF3 Asn519Ser N519S not reviewed Insufficiently evaluated not reviewed unknown Array rs1047265 1839 10758 0.170943 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AFF3 Ser358Asn S358N not reviewed Insufficiently evaluated not reviewed unknown Array rs4851223 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFF3 Ser383Asn S383N not reviewed Insufficiently evaluated not reviewed unknown Array rs4851223 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AFM Asn200Tyr N200Y not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.609 - - 5 Y 2 - 1 - - AFM Asn200Ile N200I not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 7 Y 3 - 1 - - AFM Arg395His R395H not reviewed Insufficiently evaluated not reviewed unknown Array rs41265665 410 10756 0.0381183 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - AFMID Ala41Pro A41P not reviewed Insufficiently evaluated not reviewed unknown Array rs77585764 329 10758 0.0305819 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AFMID Val121Gly V121G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AFMID Arg151Trp R151W not reviewed Insufficiently evaluated not reviewed unknown Array rs72897843 764 10758 0.0710169 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AFTPH Glu301Lys E301K not reviewed Insufficiently evaluated not reviewed unknown Array rs3770740 1300 10758 0.12084 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AFTPH Ser340Pro S340P not reviewed Insufficiently evaluated not reviewed unknown Array rs35287437 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGA Thr322Ile T322I not reviewed Insufficiently evaluated not reviewed unknown Array rs56849061 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.465 Y - 3 - 2 N - - AGA Thr149Ser T149S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228119 9935 10758 0.923499 55 0 100 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 2 - - AGAP1 Val618Ile V618I not reviewed Insufficiently evaluated not reviewed unknown Array rs2034648 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AGAP1 Val671Ile V671I not reviewed Insufficiently evaluated not reviewed unknown Array rs2034648 6845 10758 0.636271 48 0 80 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AGAP11 Ile82Val I82V not reviewed Insufficiently evaluated not reviewed unknown Array rs2641563 7886 10708 0.736459 14 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AGAP2 Ile1106Met I1106M not reviewed Insufficiently evaluated not reviewed unknown Array rs34772922 98 10754 0.00911289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - AGAP2 Ile750Met I750M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AGAP2 Glu102Gln E102Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - AGAP2 Glu438Gln E438Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - -2 - 3 - 1 - - AGAP2 Glu397Gly E397G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - AGAP2 Glu61Gly E61G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AGAP2 Ala159Gly A159G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGAP3 Ala27Thr A27T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGAP5 Arg507His R507H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGAP5 Tyr482Cys Y482C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AGAP5 Glu136Lys E136K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGAP7 Thr362Asn T362N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10712 0.00252054 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - AGAP7 Arg269Gln R269Q not reviewed Insufficiently evaluated not reviewed unknown Array 3174 8434 0.376334 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - AGAP7 Met225Val M225V not reviewed Insufficiently evaluated not reviewed unknown Array rs4043619 2409 2578 0.934445 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.503 - - 0 - 0 N - - AGAP8 Arg492His R492H not reviewed Insufficiently evaluated not reviewed unknown Array 659 10674 0.0617388 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - AGBL1 Pro417Leu P417L not reviewed Insufficiently evaluated not reviewed unknown Array rs8029810 309 9704 0.0318425 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AGBL1 Gln1010Arg Q1010R not reviewed Insufficiently evaluated not reviewed unknown Array rs8028043 8963 10072 0.889893 21 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AGBL2 Met671Ile M671I not reviewed Insufficiently evaluated not reviewed unknown Array rs12286721 6131 10758 0.569901 50 0 69 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AGBL2 Leu480Pro L480P not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - AGBL2 Arg349His R349H not reviewed Insufficiently evaluated not reviewed unknown Array rs7941404 1078 10758 0.100204 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AGBL3 Phe45Tyr F45Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2348049 917 3234 0.28355 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AGBL3 Glu122Gln E122Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4236655 3062 3234 0.946815 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AGBL3 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGBL3 Leu169Met L169M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AGBL3 Leu169Phe L169F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGBL4 Val443Met V443M not reviewed Insufficiently evaluated not reviewed unknown Array rs60977321 140 3234 0.04329 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGBL5 Val552Ala V552A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.568 - - 2 - 1 N - - AGBL5 Arg792Gln R792Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61354909 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 1 - 1 - - AGER Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array 61 7516 0.00811602 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 1 - 1 N - - AGER Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AGER Arg77Cys R77C not reviewed Insufficiently evaluated not reviewed unknown Array 34 7508 0.0045285 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - AGFG2 Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742738 484 10758 0.0449898 9 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - AGFG2 Met349Thr M349T not reviewed Insufficiently evaluated not reviewed unknown Array rs17855473 34 122 0.278689 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AGGF1 Val202Leu V202L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.897 - - 0 - 2 N - - AGGF1 Pro698Thr P698T not reviewed Insufficiently evaluated not reviewed unknown Array rs34400049 2462 10758 0.228853 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.052 - - 4 Y 0 N - - AGL Thr21Ala T21A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 1 - 4 - 9 - - AGL Thr22Ala T22A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 9 - - AGL Thr38Ala T38A not reviewed Insufficiently evaluated not reviewed unknown Array rs35278779 204 10754 0.0189697 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.101 Y - 1 - 2 - 9 - - AGL Pro1050Ser P1050S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - AGL Pro1051Ser P1051S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - AGL Pro1067Ser P1067S not reviewed Insufficiently evaluated not reviewed unknown Array rs3753494 1504 10758 0.139803 13 0 13 0 0 - - - - - - - - - - - - Y - - - 0.984 Y - 3 - 3 - 2 - - AGL Gly1098Arg G1098R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - AGL Gly1099Arg G1099R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - AGL Gly1115Arg G1115R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230307 436 10758 0.040528 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 4 - 10 - - AGL Ala1190Thr A1190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AGL Ala1191Thr A1191T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AGL Ala1207Thr A1207T not reviewed Insufficiently evaluated not reviewed unknown Array rs11807956 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - 1 - 1 N - - AGL Val1467Ile V1467I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - AGL Val1468Ile V1468I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - AGL Val1484Ile V1484I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - AGMAT Thr229Met T229M not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGMAT Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11580170 3648 10758 0.339096 26 0 38 0 0 - - - - - - - - - - - - - - - - 0.102 - - 0 - 0 N - - AGMAT Gly105Arg G105R not reviewed Insufficiently evaluated not reviewed unknown Array rs6429757 7025 10758 0.653002 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AGPAT3 Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array rs62229686 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGPAT5 Ala364Glu A364E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - AGPAT6 Lys312Ile K312I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - AGPAT9 Arg386Lys R386K not reviewed Insufficiently evaluated not reviewed unknown Array rs62303973 455 10758 0.0422941 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 2 N - - AGPHD1 Lys343Glu K343E not reviewed Insufficiently evaluated not reviewed unknown Array rs3885951 12 128 0.09375 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - AGRN Leu47Phe L47F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.964 Y - 0 - 4 - 1 - - AGRN Val554Met V554M not reviewed Insufficiently evaluated not reviewed unknown Array 39 10748 0.00362858 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 Y - 0 - 4 - 1 - - AGRN Pro1451Leu P1451L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10690 0.00402245 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - AGRN Val1666Ile V1666I not reviewed Insufficiently evaluated not reviewed unknown Array rs17160775 566 10748 0.052661 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - AGT Ser442Phe S442F not reviewed Insufficiently evaluated not reviewed unknown Array rs61751077 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.841 Y Y 5 Y 3 N - - AGT Met268Thr M268T not reviewed Insufficiently evaluated not reviewed unknown Array rs699 6039 10758 0.56135 37 0 58 1 1 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 10 - - AGT Thr207Met T207M not reviewed Insufficiently evaluated not reviewed unknown Array rs4762 1160 10758 0.107827 20 0 21 3 0 5 Y - - - - - - - - - - Y - - - 0.992 Y Y 2 - 4 - 10 - - This variant is questionably associated with an increased risk of coronary artery disease. Also known as rs4762, commonly referred to in literature as T174M, but databases now indicate this amino acid is #207. AGTPBP1 Lys1089Glu K1089E not reviewed Insufficiently evaluated not reviewed unknown Array rs60986482 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGXT Pro11Leu P11L not reviewed Insufficiently evaluated not reviewed unknown Array rs34116584 1640 10748 0.152587 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 7 Y 4 - 8 - - AGXT Asn22Ser N22S not reviewed Insufficiently evaluated not reviewed unknown Array rs34885252 261 10756 0.0242655 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AGXT Met49Leu M49L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.366 Y Y -3 - 3 N - - AGXT Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array rs73106685 125 10756 0.0116214 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 3 - 2 - - AGXT Ala295Thr A295T not reviewed Insufficiently evaluated not reviewed unknown Array rs13408961 230 9974 0.02306 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AGXT Ile340Met I340M not reviewed Insufficiently evaluated not reviewed unknown Array rs4426527 1687 10758 0.156814 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 10 - - AGXT2 Val498Leu V498L not reviewed Insufficiently evaluated not reviewed unknown Array rs16899974 1930 10758 0.179401 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AGXT2 Pro492Arg P492R not reviewed Insufficiently evaluated not reviewed unknown Array rs17245714 563 10758 0.0523331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - AGXT2 Met215Leu M215L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - AGXT2 Thr212Ile T212I not reviewed Insufficiently evaluated not reviewed unknown Array rs180749 10144 10758 0.942926 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AGXT2 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array rs37369 2593 10758 0.24103 32 0 48 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AGXT2 Gly132Arg G132R not reviewed Insufficiently evaluated not reviewed unknown Array rs16870794 269 10758 0.0250046 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 7 - - AGXT2 Ser102Asn S102N not reviewed Insufficiently evaluated not reviewed unknown Array rs37370 9973 10758 0.927031 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AGXT2L1 Ser127Pro S127P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGXT2L1 Ser179Pro S179P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGXT2L1 Ser185Pro S185P not reviewed Insufficiently evaluated not reviewed unknown Array rs1377210 1602 10758 0.148912 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AGXT2L2 His126Arg H126R not reviewed Insufficiently evaluated not reviewed unknown Array rs7707147 600 10756 0.0557828 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - AHCTF1 Leu2185Val L2185V not reviewed Insufficiently evaluated not reviewed unknown Array rs12410563 2303 10756 0.214113 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AHCTF1 Lys1859Glu K1859E not reviewed Insufficiently evaluated not reviewed unknown Array 387 10558 0.0366547 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHCTF1 Asp1607Gly D1607G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AHCTF1 Thr1336Met T1336M not reviewed Insufficiently evaluated not reviewed unknown Array 306 10758 0.0284439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHCTF1 Asn874Ser N874S not reviewed Insufficiently evaluated not reviewed unknown Array rs2642990 6868 10756 0.638527 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AHCY Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array rs13043752 148 10758 0.0137572 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.158 - - 7 Y 0 N - - AHCYL1 Ser456Pro S456P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - AHCYL1 Ile457Thr I457T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - AHDC1 Ala935Thr A935T not reviewed Insufficiently evaluated not reviewed unknown Array rs4908364 10706 10758 0.995166 55 0 110 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - AHDC1 Pro278Ser P278S not reviewed Insufficiently evaluated not reviewed unknown Array 91 10616 0.00857197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHNAK Gly5652Val G5652V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 8 Y 2 N - - AHNAK Ile5483Thr I5483T not reviewed Insufficiently evaluated not reviewed unknown Array rs61312994 457 10758 0.04248 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.729 - - 3 - 1 N - - AHNAK His4587Tyr H4587Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - AHNAK Val4541Ile V4541I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - AHNAK Asp4304Gly D4304G not reviewed Insufficiently evaluated not reviewed unknown Array rs11828907 120 10758 0.0111545 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - AHNAK Gly4200Ala G4200A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - AHNAK Ile4165Val I4165V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.386 - - -4 - 1 N - - AHNAK Ser3724Pro S3724P not reviewed Insufficiently evaluated not reviewed unknown Array rs11231128 556 10758 0.0516825 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AHNAK Pro3608His P3608H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK Asp3312Glu D3312E not reviewed Insufficiently evaluated not reviewed unknown Array rs61895404 394 10758 0.0366239 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK Gln3003Lys Q3003K not reviewed Insufficiently evaluated not reviewed unknown Array rs566144 126 126 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AHNAK Pro2439Leu P2439L not reviewed Insufficiently evaluated not reviewed unknown Array rs11824660 439 10758 0.0408068 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - AHNAK Lys2247Thr K2247T not reviewed Insufficiently evaluated not reviewed unknown Array rs61524789 312 10758 0.0290017 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - AHNAK Asp1785Gly D1785G not reviewed Insufficiently evaluated not reviewed unknown Array 513 10758 0.0476854 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AHNAK Lys1763Arg K1763R not reviewed Insufficiently evaluated not reviewed unknown Array 551 10758 0.0512177 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AHNAK Lys1481Arg K1481R not reviewed Insufficiently evaluated not reviewed unknown Array 459 10758 0.0426659 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AHNAK Met1392Ile M1392I not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AHNAK Ser1367Asn S1367N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Leu875Pro L875P not reviewed Insufficiently evaluated not reviewed unknown Array 442 10758 0.0410857 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.918 - - 7 Y 2 N - - AHNAK2 Gly5585Glu G5585E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - AHNAK2 Pro5397Ala P5397A not reviewed Insufficiently evaluated not reviewed unknown Array rs3742935 5765 9858 0.584804 44 0 60 0 0 - - - - - - - - - - - - - - - - 0.149 - - 2 - 0 N - - AHNAK2 Ser5185Ala S5185A not reviewed Insufficiently evaluated not reviewed unknown Array 181 10002 0.0180964 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.417 - - -1 - 1 N - - AHNAK2 Tyr5184Asp Y5184D not reviewed Insufficiently evaluated not reviewed unknown Array rs2819419 6126 10004 0.612355 47 0 64 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AHNAK2 Gly5139Glu G5139E not reviewed Insufficiently evaluated not reviewed unknown Array rs61421370 4342 10184 0.426355 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.417 - - 6 Y 0 N - - AHNAK2 His4845Gln H4845Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74090119 123 9874 0.012457 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.949 - - -1 - 2 N - - AHNAK2 Thr4664Ala T4664A not reviewed Insufficiently evaluated not reviewed unknown Array rs4465542 5721 9782 0.58485 44 0 60 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AHNAK2 Met4536Leu M4536L not reviewed Insufficiently evaluated not reviewed unknown Array rs9672139 5418 9758 0.555237 43 0 58 0 0 - - - - - - - - - - - - - - - - 0.267 - - -3 - 0 N - - AHNAK2 Leu4326Pro L4326P not reviewed Insufficiently evaluated not reviewed unknown Array rs2819421 5771 9900 0.582929 42 0 58 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - AHNAK2 Leu4321Val L4321V not reviewed Insufficiently evaluated not reviewed unknown Array rs11850949 5560 9908 0.561163 41 0 56 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - AHNAK2 Val4278Ala V4278A not reviewed Insufficiently evaluated not reviewed unknown Array rs2819422 6112 10072 0.606831 43 0 59 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AHNAK2 Met3961Val M3961V not reviewed Insufficiently evaluated not reviewed unknown Array rs10141053 3703 10066 0.367872 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AHNAK2 Met3869Val M3869V not reviewed Insufficiently evaluated not reviewed unknown Array rs10438246 5899 9982 0.590964 41 0 56 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - AHNAK2 Asp3793Asn D3793N not reviewed Insufficiently evaluated not reviewed unknown Array rs11160825 5864 10050 0.583483 44 0 60 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - AHNAK2 Gly3654Glu G3654E not reviewed Insufficiently evaluated not reviewed unknown Array rs28380382 5838 9948 0.586852 44 0 60 0 0 - - - - - - - - - - - - - - - - 0.204 - - 6 Y 0 N - - AHNAK2 Pro3446Arg P3446R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - AHNAK2 Val3363Ala V3363A not reviewed Insufficiently evaluated not reviewed unknown Array rs4264326 5963 9982 0.597375 40 0 53 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - AHNAK2 Pro3336Leu P3336L not reviewed Insufficiently evaluated not reviewed unknown Array rs10438247 5835 10008 0.583034 30 0 35 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - AHNAK2 Arg3241His R3241H not reviewed Insufficiently evaluated not reviewed unknown Array 4583 9602 0.477296 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.233 - - 1 - 0 N - - AHNAK2 Val2918Ile V2918I not reviewed Insufficiently evaluated not reviewed unknown Array 15 9624 0.0015586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.161 - - -4 - 0 N - - AHNAK2 Arg2862Ser R2862S not reviewed Insufficiently evaluated not reviewed unknown Array rs2582514 5900 9916 0.594998 43 0 57 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - AHNAK2 Pro2700Leu P2700L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - AHNAK2 Gly2517Val G2517V not reviewed Insufficiently evaluated not reviewed unknown Array rs60754080 5367 9756 0.550123 38 0 53 0 0 - - - - - - - - - - - - - - - - 0.04 - - 8 Y 0 N - - AHNAK2 Glu2503Ala E2503A not reviewed Insufficiently evaluated not reviewed unknown Array rs2819429 8937 9936 0.899457 39 0 73 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 0 N - - AHNAK2 Pro2387Ser P2387S not reviewed Insufficiently evaluated not reviewed unknown Array rs72702027 5475 9706 0.564084 39 0 51 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - AHNAK2 Leu2333Pro L2333P not reviewed Insufficiently evaluated not reviewed unknown Array rs61996038 6001 10236 0.586264 44 0 58 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - AHNAK2 Val2288Ile V2288I not reviewed Insufficiently evaluated not reviewed unknown Array rs74090122 82 10074 0.00813976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - AHNAK2 Asp2150Glu D2150E not reviewed Insufficiently evaluated not reviewed unknown Array rs74090125 97 8916 0.0108793 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - AHNAK2 Leu2146Val L2146V not reviewed Insufficiently evaluated not reviewed unknown Array rs12890949 8249 8750 0.942743 30 0 55 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - AHNAK2 Met2107Val M2107V not reviewed Insufficiently evaluated not reviewed unknown Array rs11846918 2411 7620 0.316404 26 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AHNAK2 His2060Gln H2060Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11850848 2035 7440 0.273522 21 0 30 0 0 - - - - - - - - - - - - - - - - 0.676 - - -1 - 1 - 1 - - AHNAK2 Pro1952Leu P1952L not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Thr1926Ile T1926I not reviewed Insufficiently evaluated not reviewed unknown Array 4 9556 0.000418585 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHNAK2 Gly1901Ser G1901S not reviewed Insufficiently evaluated not reviewed unknown Array rs59117977 336 9514 0.0353164 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Glu1856Asp E1856D not reviewed Insufficiently evaluated not reviewed unknown Array rs2819435 8566 9854 0.869292 36 0 61 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AHNAK2 Asp1705His D1705H not reviewed Insufficiently evaluated not reviewed unknown Array rs61428154 14 9758 0.00143472 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - AHNAK2 Met1624Val M1624V not reviewed Insufficiently evaluated not reviewed unknown Array rs71421895 487 9490 0.0513172 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AHNAK2 Val1610Ala V1610A not reviewed Insufficiently evaluated not reviewed unknown Array rs2013462 5693 9386 0.606542 33 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AHNAK2 Lys1606Thr K1606T not reviewed Insufficiently evaluated not reviewed unknown Array 5 9394 0.000532254 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHNAK2 Ser1341Phe S1341F not reviewed Insufficiently evaluated not reviewed unknown Array 127 8260 0.0153753 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 5 Y 0 N - - AHNAK2 Gly1339Arg G1339R not reviewed Insufficiently evaluated not reviewed unknown Array rs55883015 82 8304 0.00987476 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 6 Y 0 N - - AHNAK2 Met1298Ile M1298I not reviewed Insufficiently evaluated not reviewed unknown Array rs2819440 6897 8356 0.825395 39 0 72 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - AHNAK2 Ser1185Leu S1185L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9860 0.000709939 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.574 - - 6 Y 1 N - - AHNAK2 Ala1175Val A1175V not reviewed Insufficiently evaluated not reviewed unknown Array rs55650155 4170 9816 0.424817 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AHNAK2 Glu1148Asp E1148D not reviewed Insufficiently evaluated not reviewed unknown Array rs55791176 4856 9954 0.487844 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - AHNAK2 Val1133Ile V1133I not reviewed Insufficiently evaluated not reviewed unknown Array rs11625007 4809 9894 0.486052 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - AHNAK2 Ala1115Val A1115V not reviewed Insufficiently evaluated not reviewed unknown Array 50 9698 0.0051557 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - AHNAK2 Phe1089Leu F1089L not reviewed Insufficiently evaluated not reviewed unknown Array 49 9648 0.00507877 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - AHNAK2 Met852Val M852V not reviewed Insufficiently evaluated not reviewed unknown Array rs74090129 1152 9948 0.115802 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - AHNAK2 Pro744Leu P744L not reviewed Insufficiently evaluated not reviewed unknown Array 63 9708 0.00648949 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.069 - - 7 Y 0 N - - AHNAK2 Thr525Ala T525A not reviewed Insufficiently evaluated not reviewed unknown Array rs2278607 1119 10080 0.111012 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - AHR Asn487Asp N487D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 1 - 5 - - AHR Arg554Lys R554K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2066853 2385 10758 0.221695 28 0 33 0 0 - - - - - - - - - - - - - - - Y - - - -3 - 1 N - - AHRR Leu114Pro L114P not reviewed Insufficiently evaluated not reviewed unknown Array rs35008248 1270 10542 0.120471 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - AHRR Pro189Ala P189A not reviewed Insufficiently evaluated not reviewed unknown Array rs2292596 3019 10112 0.298556 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AHRR Gly279Stop G279X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AHRR Gly391Val G391V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303738 192 9734 0.0197247 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AHRR Asp645His D645H not reviewed Insufficiently evaluated not reviewed unknown Array rs34453673 2715 10092 0.269025 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AHSG Val142Leu V142L not reviewed Insufficiently evaluated not reviewed unknown Array rs7633550 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - AHSG Met248Thr M248T not reviewed Insufficiently evaluated not reviewed unknown Array rs4917 7393 10758 0.68721 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AHSG Ser256Thr S256T not reviewed Insufficiently evaluated not reviewed unknown Array rs4918 7086 10758 0.658673 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AIF1 Gly14Arg G14R not reviewed Insufficiently evaluated not reviewed unknown Array rs2736182 880 10758 0.0817996 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - AIF1 Arg15Trp R15W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AIFM2 Asp288Asn D288N not reviewed Insufficiently evaluated not reviewed unknown Array rs2271694 84 10758 0.00780814 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - AIFM2 Met135Thr M135T not reviewed Insufficiently evaluated not reviewed unknown Array rs10999147 731 10758 0.0679494 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.916 - - 2 - 1 N - - AIFM3 Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array rs178264 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AIFM3 Ser508Thr S508T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AIFM3 Ser514Thr S514T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AIG1 Gly55Cys G55C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - AIM1 Gln293Pro Q293P not reviewed Insufficiently evaluated not reviewed unknown Array rs1159148 2618 10758 0.243354 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AIM1 Glu351Lys E351K not reviewed Insufficiently evaluated not reviewed unknown Array rs73520804 31 10758 0.00288158 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.493 - - 0 - 1 N - - AIM1 Cys491Arg C491R not reviewed Insufficiently evaluated not reviewed unknown Array rs3747787 2344 10758 0.217884 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.091 - - 8 Y 0 N - - AIM1 Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array rs61734885 240 10758 0.022309 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AIM1 Ala595Val A595V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740946 209 10758 0.0194274 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AIM1 Gln633Arg Q633R not reviewed Insufficiently evaluated not reviewed unknown Array rs73520807 31 10758 0.00288158 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - AIM1 Asp688Asn D688N not reviewed Insufficiently evaluated not reviewed unknown Array rs73761859 207 10758 0.0192415 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - AIM1 Glu1196Ala E1196A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs783396 10002 10758 0.929727 56 0 105 0 0 1 Y - - - - - - - - - - - - Y Y 0.015 - - 3 - 2 N - - AIM1 Cys1395Tyr C1395Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2297970 2732 10756 0.253998 16 0 21 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 1 N - - AIM1 Thr1445Ser T1445S not reviewed Insufficiently evaluated not reviewed unknown Array rs1676015 724 10758 0.0672988 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.17 - - -2 - 0 N - - AIM1L Ile610Met I610M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10750 0.00344186 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - AIM1L Arg487Cys R487C not reviewed Insufficiently evaluated not reviewed unknown Array rs72872977 12 10758 0.00111545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.181 - - 8 Y 0 N - - AIM1L Ser249Asn S249N not reviewed Insufficiently evaluated not reviewed unknown Array rs10751735 5990 10746 0.557417 39 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AIM2 Glu32Lys E32K not reviewed Insufficiently evaluated not reviewed unknown Array rs2276405 145 10758 0.0134783 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 3 - 6 - - AIMP1 Pro103Ala P103A not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AIMP1 Pro79Ala P79A not reviewed Insufficiently evaluated not reviewed unknown Array rs1134648 9 128 0.0703125 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - AIMP1 Thr117Ala T117A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230255 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AIMP1 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array 332 10758 0.0308608 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AIP Gln228Lys Q228K not reviewed Insufficiently evaluated not reviewed unknown Array rs641081 8949 10758 0.831846 12 0 24 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 1 - - AIP Gln307Arg Q307R not reviewed Insufficiently evaluated not reviewed unknown Array rs4930199 10732 10734 0.999814 51 0 102 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - AIPL1 Pro313Ser P313S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - AIPL1 Pro316Ser P316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - AIPL1 Pro376Ser P376S pathogenic Insufficiently evaluated pathogenic recessive Array rs61757484 233 10732 0.0217108 3 1 2 2 2 2 Y 0 - 0 Y 0 - 4 Y 2 Y Y - - - - Y Y 3 - AIPL1-Related Leber Congenital Amaurosis 2 24 22 295 1.117 4 - 10 - - This variant is reported causative for Leber Congenital Amaurosis IV, but frequency in 1000 genomes data (19.6%) contradicts pathogenic effect. AIPL1 Thr114Ile T114I pathogenic High clinical importance, Uncertain pathogenic recessive Array rs8069375 216 10758 0.0200781 2 1 1 3 3 2 Y 0 - 0 Y 0 - 4 Y 2 Y Y - - - 0.191 Y Y 3 - AIPL1-Related Leber Congenital Amaurosis 2 24 6 311 4.319 3 - 7 2 0 This variant is reported causative for Leber Congenital Amaurosis IV. AIPL1 Thr54Ile T54I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - AIPL1 Asp90His D90H not reviewed Insufficiently evaluated not reviewed unknown Array rs12449580 1780 10758 0.165458 23 0 26 0 0 5 Y - - - - - - - - - - Y - - - 0.029 Y Y 3 - 3 - 7 - - AIRE Ser278Arg S278R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800520 1660 10706 0.155053 21 0 26 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 10 - - AIRE Ala176Val A176V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - AIRE Ala373Val A373V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AJAP1 Gly202Asp G202D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 4 Y 2 N - - AJAP1 Gly263Arg G263R not reviewed Insufficiently evaluated not reviewed unknown Array rs242056 5605 10758 0.521008 38 0 54 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 1 N - - AK2 His191Asp H191D not reviewed Insufficiently evaluated not reviewed unknown Array 1266 10758 0.11768 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 1 N - - AK2 Lys181Asn K181N not reviewed Insufficiently evaluated not reviewed unknown Array 2438 10758 0.226622 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AK3 Ala223Ser A223S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK3L1 Arg126Pro R126P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK5 Arg439Gln R439Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - AK5 Arg465Gln R465Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2803140 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - AK5 Ser534Phe S534F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK5 Ser560Phe S560F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK5 Phe536Ile F536I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK5 Phe562Ile F562I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK7 Arg102Gln R102Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2275554 2660 10758 0.247258 29 0 31 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 0 N - - AK7 Lys385Glu K385E not reviewed Insufficiently evaluated not reviewed unknown Array rs74090310 362 10758 0.0336494 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK7 Asn389Lys N389K not reviewed Insufficiently evaluated not reviewed unknown Array rs2369679 9352 10758 0.869307 56 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKAP1 Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array rs17761023 965 10758 0.0897007 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 1 N - - AKAP1 Val60Met V60M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230770 310 10758 0.0288158 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - AKAP1 Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array rs73991770 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKAP1 Glu301Lys E301K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731968 808 10758 0.0751069 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - AKAP1 Gly323Ser G323S not reviewed Insufficiently evaluated not reviewed unknown Array 584 10758 0.0542852 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP1 Ser330Gly S330G not reviewed Insufficiently evaluated not reviewed unknown Array rs34535433 810 10758 0.0752928 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP1 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - AKAP10 Ile646Val I646V pathogenic Insufficiently evaluated pathogenic unknown Array rs203462 4863 10758 0.452036 50 0 64 1 1 - - - - - - - - - - - - - Y - - - - - -4 - 2 N - - Susceptibility to cardiac conduction defect AKAP10 Ser523Leu S523L not reviewed Insufficiently evaluated not reviewed unknown Array rs11870360 257 10758 0.0238892 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - AKAP10 Arg249His R249H not reviewed Insufficiently evaluated not reviewed unknown Array rs2108978 4802 10758 0.446366 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKAP10 Ser202Cys S202C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - AKAP11 Arg610Cys R610C not reviewed Insufficiently evaluated not reviewed unknown Array rs61748843 273 10758 0.0253765 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AKAP11 Ser736Leu S736L not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - AKAP11 Glu902Gly E902G not reviewed Insufficiently evaluated not reviewed unknown Array rs61752500 44 10754 0.0040915 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - AKAP11 Ser1074Phe S1074F not reviewed Insufficiently evaluated not reviewed unknown Array rs61756566 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 5 Y 1 N - - AKAP11 Leu1410Phe L1410F not reviewed Insufficiently evaluated not reviewed unknown Array rs17063167 163 10758 0.0151515 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP12 Lys117Glu K117E not reviewed Insufficiently evaluated not reviewed unknown Array rs10872670 8152 10758 0.757762 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKAP12 Lys19Glu K19E not reviewed Insufficiently evaluated not reviewed unknown Array rs10872670 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP12 Lys118Gln K118Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3734799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP12 Lys216Gln K216Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3734799 6926 10758 0.6438 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AKAP12 Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP12 Pro254Leu P254L not reviewed Insufficiently evaluated not reviewed unknown Array rs73780648 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP12 Glu822Gly E822G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP12 Glu920Gly E920G not reviewed Insufficiently evaluated not reviewed unknown Array rs13212161 1032 10758 0.0959286 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 1 N - - AKAP12 Val1096Ile V1096I not reviewed Insufficiently evaluated not reviewed unknown Array rs3734797 242 10758 0.0224949 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.43 - - -4 - 1 N - - AKAP12 Val998Ile V998I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AKAP12 Gly1188Arg G1188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP12 Gly1286Arg G1286R not reviewed Insufficiently evaluated not reviewed unknown Array rs73620932 9 10758 0.000836586 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - AKAP12 Glu1257Lys E1257K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP12 Glu1355Lys E1355K not reviewed Insufficiently evaluated not reviewed unknown Array rs12201388 1159 10758 0.107734 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.788 - - 0 - 0 N - - AKAP12 Asp1434Glu D1434E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP12 Asp1532Glu D1532E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.788 - - -2 - 1 N - - AKAP12 Val1484Met V1484M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP12 Val1582Met V1582M not reviewed Insufficiently evaluated not reviewed unknown Array rs34713284 820 10758 0.0762223 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - AKAP12 Glu1502Asp E1502D not reviewed Insufficiently evaluated not reviewed unknown Array rs3823310 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP12 Glu1600Asp E1600D not reviewed Insufficiently evaluated not reviewed unknown Array rs3823310 5903 10758 0.548708 37 0 51 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - AKAP12 Glu1591Asp E1591D not reviewed Insufficiently evaluated not reviewed unknown Array rs3734795 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP12 Glu1689Asp E1689D not reviewed Insufficiently evaluated not reviewed unknown Array rs3734795 1204 10758 0.111917 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.35 - - -2 - 0 N - - AKAP13 Ser232Thr S232T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 1 - 1 - - AKAP13 Glu334Lys E334K not reviewed Insufficiently evaluated not reviewed unknown Array rs73452430 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.946 - - 0 - 2 N - - AKAP13 Met452Thr M452T not reviewed Insufficiently evaluated not reviewed unknown Array rs2061821 6729 10758 0.625488 42 0 65 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - AKAP13 Trp494Arg W494R not reviewed Insufficiently evaluated not reviewed unknown Array rs2061822 6969 10758 0.647797 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AKAP13 Lys526Gln K526Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34434221 243 10758 0.0225878 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - AKAP13 Arg574Cys R574C not reviewed Insufficiently evaluated not reviewed unknown Array rs2061824 6725 10758 0.625116 40 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - AKAP13 Lys596Glu K596E not reviewed Insufficiently evaluated not reviewed unknown Array rs56156165 279 10758 0.0259342 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AKAP13 Gly624Val G624V not reviewed Insufficiently evaluated not reviewed unknown Array rs745191 2199 10758 0.204406 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.924 - - 8 Y 1 N - - AKAP13 Glu689Lys E689K not reviewed Insufficiently evaluated not reviewed unknown Array rs7177107 1701 10758 0.158115 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKAP13 Val845Ala V845A not reviewed Insufficiently evaluated not reviewed unknown Array rs4075256 6717 10758 0.624373 36 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP13 Val897Met V897M not reviewed Insufficiently evaluated not reviewed unknown Array rs4075254 6724 10758 0.625023 42 0 65 0 0 - - - - - - - - - - - - - - - - 0.264 - - 0 - 0 N - - AKAP13 Glu994Lys E994K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - AKAP13 Pro1062Ala P1062A not reviewed Insufficiently evaluated not reviewed unknown Array rs4843074 6718 10758 0.624466 42 0 65 0 0 - - - - - - - - - - - - - - - - 0.309 - - 2 - 0 N - - AKAP13 Asp1086Asn D1086N not reviewed Insufficiently evaluated not reviewed unknown Array rs4843075 6724 10758 0.625023 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKAP13 Glu1106Gly E1106G not reviewed Insufficiently evaluated not reviewed unknown Array rs61731243 471 10758 0.0437814 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.044 - - 6 Y 0 N - - AKAP13 Met1216Thr M1216T not reviewed Insufficiently evaluated not reviewed unknown Array rs7162168 6731 10758 0.625674 41 0 64 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP13 Ser1525Gly S1525G not reviewed Insufficiently evaluated not reviewed unknown Array rs35079107 253 10758 0.0235174 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP13 Gly2457Ser G2457S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241268 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 2 - 1 N - - AKAP13 Gly2461Ser G2461S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241268 2053 10758 0.190835 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP13 Gly702Ser G702S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241268 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP13 Pro2708Leu P2708L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - AKAP13 Pro2712Leu P2712L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734378 441 10758 0.0409927 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP13 Pro953Leu P953L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP13 Ala1046Thr A1046T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKAP13 Ala2801Thr A2801T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKAP13 Ala2805Thr A2805T not reviewed Insufficiently evaluated not reviewed unknown Array rs2614668 1428 10758 0.132738 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKAP2 Lys282Gln K282Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4978872 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP2 Lys371Gln K371Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4978872 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP2 Pro400Thr P400T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AKAP2 Pro489Thr P489T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AKAP2 Leu561Ser L561S not reviewed Insufficiently evaluated not reviewed unknown Array rs914358 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP2 Leu650Ser L650S not reviewed Insufficiently evaluated not reviewed unknown Array rs914358 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP2 Ala613Glu A613E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP2 Ala702Glu A702E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP2 Ala650Val A650V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735424 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP2 Ala739Val A739V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735424 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP3 Glu727Lys E727K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.583 - - 0 - 1 N - - AKAP3 Ser725Leu S725L not reviewed Insufficiently evaluated not reviewed unknown Array rs2072357 957 10758 0.0889571 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - AKAP3 Ser700Phe S700F not reviewed Insufficiently evaluated not reviewed unknown Array rs2041291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.83 - - 5 Y 1 N - - AKAP3 Ser700Pro S700P not reviewed Insufficiently evaluated not reviewed unknown Array rs2041290 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 3 - 1 N - - AKAP3 Ile661Thr I661T not reviewed Insufficiently evaluated not reviewed unknown Array rs1990313 893 10758 0.083008 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - AKAP3 Glu525Lys E525K not reviewed Insufficiently evaluated not reviewed unknown Array rs1990312 10497 10758 0.975739 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKAP3 Ile500Thr I500T not reviewed Insufficiently evaluated not reviewed unknown Array rs12366671 1197 10758 0.111266 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AKAP3 Thr464Ser T464S not reviewed Insufficiently evaluated not reviewed unknown Array rs11063266 10212 10758 0.949247 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AKAP3 Gly118Glu G118E not reviewed Insufficiently evaluated not reviewed unknown Array rs2072355 7962 10758 0.7401 53 0 79 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - AKAP4 Ala664Gly A664G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKAP4 Ala673Gly A673G not reviewed Insufficiently evaluated not reviewed unknown Array rs12012704 630 8761 0.0719096 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKAP5 Arg188Gln R188Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740636 368 10758 0.0342071 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP5 Thr203Ile T203I not reviewed Insufficiently evaluated not reviewed unknown Array rs1256149 125 128 0.976562 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AKAP6 Ala337Val A337V not reviewed Insufficiently evaluated not reviewed unknown Array rs3742926 1386 10758 0.128834 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP6 Asn408Ser N408S not reviewed Insufficiently evaluated not reviewed unknown Array rs17099240 1370 10756 0.127371 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKAP6 Arg513Leu R513L not reviewed Insufficiently evaluated not reviewed unknown Array rs45477296 586 10758 0.0544711 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.387 - - 6 Y 0 N - - AKAP6 Glu1257Asp E1257D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - AKAP6 Asp1258Ala D1258A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.63 - - 5 Y 1 N - - AKAP6 Ala1492Val A1492V not reviewed Insufficiently evaluated not reviewed unknown Array rs11845640 2277 10758 0.211656 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AKAP6 Arg1500Cys R1500C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - AKAP6 Thr1516Ala T1516A not reviewed Insufficiently evaluated not reviewed unknown Array rs17099587 192 10756 0.0178505 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - AKAP6 Val1522Ile V1522I not reviewed Insufficiently evaluated not reviewed unknown Array rs34711402 290 10758 0.0269567 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - AKAP6 Gln1554Pro Q1554P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 4 Y 2 N - - AKAP6 Ile1779Asn I1779N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - AKAP6 Asn2035Asp N2035D not reviewed Insufficiently evaluated not reviewed unknown Array rs1051695 6923 10758 0.643521 50 0 79 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - AKAP6 Phe2171Tyr F2171Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4647899 2842 10758 0.264176 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - AKAP7 Ala125Ser A125S not reviewed Insufficiently evaluated not reviewed unknown Array rs61756669 171 10758 0.0158951 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.056 - - -1 - 0 N - - AKAP7 Ser193Asn S193N not reviewed Insufficiently evaluated not reviewed unknown Array rs1190788 3149 10758 0.292712 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - AKAP7 Lys205Arg K205R not reviewed Insufficiently evaluated not reviewed unknown Array rs34324046 153 10758 0.014222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AKAP8 Arg295Cys R295C not reviewed Insufficiently evaluated not reviewed unknown Array rs45479794 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - AKAP8 Cys275Tyr C275Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.51 - - 6 Y 1 N - - AKAP8 Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array 70 10710 0.00653595 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - AKAP8 Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 0 - 3 - 1 - - AKAP8L His458Gln H458Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2058322 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKAP9 His47Tyr H47Y not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP9 Arg434Gln R434Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60031334 101 10756 0.00939011 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP9 Met463Ile M463I not reviewed Insufficiently evaluated not reviewed unknown Array rs6964587 4751 10754 0.441789 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKAP9 Leu1336His L1336H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP9 Met1400Thr M1400T not reviewed Insufficiently evaluated not reviewed unknown Array rs73407505 394 10758 0.0366239 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP9 Glu2059Gly E2059G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - AKAP9 Ser2178Pro S2178P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP9 Ser2186Pro S2186P not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP9 Lys2476Arg K2476R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AKAP9 Lys2484Arg K2484R not reviewed Insufficiently evaluated not reviewed unknown Array rs35759833 998 10756 0.0927854 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AKAP9 Gln2722Arg Q2722R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP9 Gln2730Arg Q2730R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP9 Asn2784Ser N2784S not reviewed Insufficiently evaluated not reviewed unknown Array rs6960867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP9 Asn2792Ser N2792S not reviewed Insufficiently evaluated not reviewed unknown Array rs6960867 3837 10758 0.356665 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKAP9 Pro2971Ser P2971S not reviewed Insufficiently evaluated not reviewed unknown Array rs1063242 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP9 Pro2979Ser P2979S not reviewed Insufficiently evaluated not reviewed unknown Array rs1063242 10733 10758 0.997676 30 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AKAP9 Gln3436Arg Q3436R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP9 Gln3444Arg Q3444R not reviewed Insufficiently evaluated not reviewed unknown Array rs34956633 152 10752 0.0141369 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKD1 Val1555Ile V1555I not reviewed Insufficiently evaluated not reviewed unknown Array rs2277114 1172 3234 0.3624 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AKD1 Arg1299Gln R1299Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 3234 0.0170068 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKD1 Val295Phe V295F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKD1 Glu1131Lys E1131K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKD1 Glu210Lys E210K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 0 - 1 N - - AKD1 Pro815Ser P815S not reviewed Insufficiently evaluated not reviewed unknown Array rs10499052 764 3234 0.23624 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AKD1 Asp739Val D739V not reviewed Insufficiently evaluated not reviewed unknown Array 676 3234 0.209029 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AKD1 Ser504Phe S504F not reviewed Insufficiently evaluated not reviewed unknown Array 54 3234 0.0166976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - AKD1 Ser493Pro S493P not reviewed Insufficiently evaluated not reviewed unknown Array 40 3234 0.0123686 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - AKD1 Ile95Leu I95L not reviewed Insufficiently evaluated not reviewed unknown Array 424 10758 0.0394125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - AKNA Ile1348Val I1348V not reviewed Insufficiently evaluated not reviewed unknown Array rs59274247 633 10758 0.0588399 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AKNA Tyr1327Cys Y1327C not reviewed Insufficiently evaluated not reviewed unknown Array rs2787344 836 10758 0.0777096 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - AKNA Ser1303Pro S1303P not reviewed Insufficiently evaluated not reviewed unknown Array rs2250242 6335 10758 0.588864 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AKNA Arg1119Gln R1119Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3748178 1555 9956 0.156187 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 1 N - - AKNA Gln1097Arg Q1097R not reviewed Insufficiently evaluated not reviewed unknown Array rs1265891 1718 10368 0.165702 18 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKNA Val962Met V962M not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - AKNA Pro624Leu P624L not reviewed Insufficiently evaluated not reviewed unknown Array rs3748176 4467 10758 0.415226 38 0 46 0 0 - - - - - - - - - - - - - - - - 0.307 - - 7 Y 0 N - - AKNA Ala606Val A606V not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - AKNA Leu544Val L544V not reviewed Insufficiently evaluated not reviewed unknown Array rs62640865 382 10758 0.0355085 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.085 - - 0 - 0 N - - AKNA Asp278Glu D278E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - -2 - 1 N - - AKNA Gly130Arg G130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - AKNA Arg9His R9H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10742 0.000837832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 10 - - AKR1A1 Asn52Ser N52S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229540 385 10758 0.0357873 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - AKR1B10 Pro87Ser P87S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303312 141 10758 0.0131065 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKR1B10 Pro223Arg P223R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.964 - - 5 Y 2 N - - AKR1B10 Asn313Asp N313D not reviewed Insufficiently evaluated not reviewed unknown Array rs4728329 10086 10758 0.937535 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKR1B10L Thr245Ala T245A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR1C2 Phe46Tyr F46Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2854482 768 10758 0.0713887 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 0 N - - AKR1C3 His5Gln H5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12529 4634 10756 0.430829 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKR1C3 Glu77Gly E77G not reviewed Insufficiently evaluated not reviewed unknown Array rs11551177 545 10754 0.0506788 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 4 - - AKR1C3 Cys145Tyr C145Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - AKR1C3 Pro180Ser P180S not reviewed Insufficiently evaluated not reviewed unknown Array rs34186955 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 8 - - AKR1C4 Gly135Glu G135E not reviewed Insufficiently evaluated not reviewed unknown Array rs11253043 310 10758 0.0288158 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - AKR1C4 Gln250Arg Q250R not reviewed Insufficiently evaluated not reviewed unknown Array rs4880718 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKR1CL1 Arg50His R50H not reviewed Insufficiently evaluated not reviewed unknown Array rs7097295 27 128 0.210938 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.548 - - 1 - 0 N - - AKR1CL2 Lys86Arg K86R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AKR1CL2 Phe188Leu F188L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR1CL2 Arg301Stop R301X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AKR7A2 Ser293Leu S293L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.376 - - 6 Y 1 N - - AKR7A2 Ser255Asn S255N not reviewed Insufficiently evaluated not reviewed unknown Array rs2231203 400 10758 0.0371816 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR7A2 Gln157His Q157H not reviewed Insufficiently evaluated not reviewed unknown Array rs859208 1032 10758 0.0959286 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKR7A2 Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array rs1043657 759 10758 0.0705521 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.301 - - 1 - 0 N - - AKR7A3 Thr323Ala T323A not reviewed Insufficiently evaluated not reviewed unknown Array rs1738025 8554 10750 0.795721 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKR7A3 Asn215Asp N215D not reviewed Insufficiently evaluated not reviewed unknown Array rs1738023 8288 10752 0.770833 47 0 79 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AKR7A3 Val138Met V138M not reviewed Insufficiently evaluated not reviewed unknown Array rs2231198 3865 10752 0.359468 38 0 46 0 0 - - - - - - - - - - - - - - - - 0.214 - - 0 - 0 N - - AKR7L Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array rs2235795 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR7L Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array rs2235795 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR7L Phe236Leu F236L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR7L Leu170Pro L170P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKR7L Cys186Tyr C186Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2235794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKR7L Ala147Gly A147G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR7L Ala75Asp A75D not reviewed Insufficiently evaluated not reviewed unknown Array 572 3234 0.176871 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AKR7L Glu55Lys E55K not reviewed Insufficiently evaluated not reviewed unknown Array 108 3232 0.0334158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKT3 Lys180Asn K180N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.771 - - 1 - 1 N - - ALAD Glu330Lys E330K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ALAD Lys59Asn K59N pathogenic Insufficiently evaluated pathogenic undefined Array 637 10758 0.0592117 0 0 0 4 4 2 Y 0 Y 0 Y 0 Y 1 Y 3 Y Y Y - - - Y - 1 - 3 N 10 - - This variant was implicated in causing increased susceptibility to lead poisoning, but evidence was not very significant and later reports have conflicting evidence (may even support a weakly protective effect in a few cases). ALAS2 Arg181Cys R181C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - ALAS2 Arg205Cys R205C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - ALAS2 Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 2 - 1 - - ALCAM Asn258Ser N258S not reviewed Insufficiently evaluated not reviewed unknown Array rs1044240 1350 10758 0.125488 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ALCAM Thr301Met T301M not reviewed Insufficiently evaluated not reviewed unknown Array rs1044243 948 10758 0.0881205 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - ALCAM Arg360Ser R360S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - ALCAM Met367Ile M367I not reviewed Insufficiently evaluated not reviewed unknown Array rs34926152 396 10758 0.0368098 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - ALDH16A1 Leu227Val L227V not reviewed Insufficiently evaluated not reviewed unknown Array rs1320303 6992 10736 0.651267 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALDH16A1 Ala288Pro A288P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ALDH16A1 Ala339Pro A339P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 3 - 2 - - ALDH16A1 Ala297Thr A297T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 3 - 2 - - ALDH16A1 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs10406757 352 10750 0.0327442 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.789 - - 1 - 2 - 2 - - ALDH16A1 Glu654Lys E654K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH16A1 Glu705Lys E705K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - ALDH16A1 Trp746Cys W746C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALDH16A1 Trp797Cys W797C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ALDH18A1 Ser370Tyr S370Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 7 - - ALDH18A1 Ser372Tyr S372Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3765571 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 7 - - ALDH18A1 Thr297Ile T297I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALDH18A1 Thr299Ile T299I not reviewed Insufficiently evaluated not reviewed unknown Array rs2275272 1092 10758 0.101506 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 0 N - - ALDH1A1 Ile177Phe I177F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 10 - - ALDH1A2 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALDH1A2 Val310Ile V310I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALDH1A2 Val348Ile V348I not reviewed Insufficiently evaluated not reviewed unknown Array rs4646626 5008 10758 0.465514 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ALDH1A3 Glu323Gln E323Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61624077 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - ALDH1A3 Met386Val M386V not reviewed Insufficiently evaluated not reviewed unknown Array rs3803430 1228 10758 0.114148 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ALDH1B1 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228093 1314 10758 0.122142 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ALDH1B1 Arg107Leu R107L not reviewed Insufficiently evaluated not reviewed unknown Array rs2073478 5406 10758 0.50251 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ALDH1B1 Pro215Ser P215S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ALDH1B1 Val253Met V253M not reviewed Insufficiently evaluated not reviewed unknown Array rs4878199 9918 10758 0.921919 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALDH1L1 Ala835Ser A835S not reviewed Insufficiently evaluated not reviewed unknown Array rs72965956 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - ALDH1L1 Ile812Val I812V not reviewed Insufficiently evaluated not reviewed unknown Array rs4646750 948 10758 0.0881205 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ALDH1L1 Asp793Gly D793G not reviewed Insufficiently evaluated not reviewed unknown Array rs1127717 2338 10758 0.217327 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - ALDH1L1 Cys567Phe C567F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ALDH1L1 Ser481Gly S481G not reviewed Insufficiently evaluated not reviewed unknown Array rs2276724 1614 10758 0.150028 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - ALDH1L1 Glu429Ala E429A not reviewed Insufficiently evaluated not reviewed unknown Array rs9282691 759 10758 0.0705521 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ALDH1L1 Arg333Gln R333Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.752 - - 0 - 1 N - - ALDH1L1 Val330Phe V330F not reviewed Insufficiently evaluated not reviewed unknown Array rs2886059 2475 10758 0.230061 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - ALDH1L1 Leu254Pro L254P not reviewed Insufficiently evaluated not reviewed unknown Array rs3796191 565 10758 0.0525191 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ALDH1L1 Arg114Stop R114X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - ALDH1L2 Leu577Val L577V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - ALDH1L2 Arg572His R572H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 1 - 0 N - - ALDH2 Glu504Lys E504K pathogenic Insufficiently evaluated pathogenic unknown Array rs671 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - Y Y - 0.999 - - 0 - 4 N 10 - - ALDH3A1 Pro329Ala P329A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228100 3439 10758 0.319669 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ALDH3A1 Tyr305Phe Y305F not reviewed Insufficiently evaluated not reviewed unknown Array rs60739355 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - ALDH3A1 Thr173Ser T173S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ALDH3A1 Ser134Ala S134A not reviewed Insufficiently evaluated not reviewed unknown Array rs887241 7013 10758 0.651887 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ALDH3B1 Pro240Leu P240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALDH3B1 Thr249Met T249M not reviewed Insufficiently evaluated not reviewed unknown Array rs2286168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH3B1 Ala346Val A346V not reviewed Insufficiently evaluated not reviewed unknown Array rs2286163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH3B1 Arg383Trp R383W not reviewed Insufficiently evaluated not reviewed unknown Array rs2286163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALDH3B1 Gly433Arg G433R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALDH3B1 Arg396Gln R396Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH3B1 Glu451Lys E451K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH3B2 Thr366Ala T366A not reviewed Insufficiently evaluated not reviewed unknown Array rs58465018 199 10758 0.0184979 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH3B2 His361Arg H361R not reviewed Insufficiently evaluated not reviewed unknown Array rs1551886 9149 10758 0.850437 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ALDH3B2 Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array rs17856219 951 10758 0.0883993 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ALDH3B2 Gly256Arg G256R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALDH3B2 Ser220Gly S220G not reviewed Insufficiently evaluated not reviewed unknown Array rs2447571 10755 10758 0.999721 34 0 66 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ALDH3B2 His203Arg H203R not reviewed Insufficiently evaluated not reviewed unknown Array rs41499149 10054 10750 0.935256 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ALDH3B2 Ser52Asn S52N not reviewed Insufficiently evaluated not reviewed unknown Array rs1551888 9140 10756 0.849758 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALDH3B2 Thr40Pro T40P not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH3B2 Met12Ile M12I not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALDH3B2 Met12Thr M12T not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH4A1 Val410Ile V410I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ALDH4A1 Val470Ile V470I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230709 1189 10758 0.110522 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - -4 - 2 - 1 - - ALDH4A1 Thr135Met T135M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ALDH4A1 Thr195Met T195M not reviewed Insufficiently evaluated not reviewed unknown Array rs72936434 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ALDH5A1 His180Tyr H180Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2760118 4020 10758 0.373675 31 0 39 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 10 - - ALDH5A1 Ala459Ser A459S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ALDH5A1 Ala472Ser A472S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ALDH5A1 Tyr471Ser Y471S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ALDH5A1 Tyr484Ser Y484S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ALDH5A1 Gln477Leu Q477L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ALDH5A1 Gln490Leu Q490L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ALDH6A1 Asn65Ser N65S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - ALDH6A1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10718 0.000186601 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - ALDH7A1 Thr523Ala T523A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALDH7A1 Lys439Gln K439Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12514417 810 10756 0.0753068 3 0 3 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - ALDH7A1 Thr412Ala T412A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALDH8A1 Pro347Thr P347T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH8A1 Pro401Thr P401T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731731 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.903 - - 4 Y 2 N - - ALDH9A1 Ser221Thr S221T not reviewed Insufficiently evaluated not reviewed unknown Array rs1065756 173 10758 0.0160811 5 0 5 0 0 - - - - - - - - - - - - - - - - - Y - -2 - 3 - 5 - - ALDH9A1 Gly28Ser G28S not reviewed Insufficiently evaluated not reviewed unknown Array rs73014554 5 10646 0.000469659 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - ALDOC Ala363Val A363V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALG1 Ser267Asn S267N not reviewed Insufficiently evaluated not reviewed unknown Array rs17849848 657 10752 0.0611049 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 2 - - ALG1 Ala391Val A391V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.916 Y Y 2 - 4 N - - ALG1 Asp429Glu D429E not reviewed Insufficiently evaluated not reviewed unknown Array rs9745522 729 6228 0.117052 6 0 4 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y -2 - 3 - 10 - - ALG10B Ala84Gly A84G not reviewed Insufficiently evaluated not reviewed unknown Array rs6582584 10376 10758 0.964492 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ALG10B Ser383Asn S383N not reviewed Insufficiently evaluated not reviewed unknown Array rs57963306 82 10746 0.00763075 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ALG12 Ile393Val I393V not reviewed Insufficiently evaluated not reviewed unknown Array rs3922872 964 10758 0.0896077 4 0 4 0 0 5 Y - - - - - - - - - - Y - - - 0.939 Y Y -4 - 3 N - - ALG1L Gly184Ser G184S not reviewed Insufficiently evaluated not reviewed unknown Array rs3187686 1596 6334 0.251973 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ALG1L Ile159Thr I159T not reviewed Insufficiently evaluated not reviewed unknown Array rs3811679 1447 6336 0.228378 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ALG1L Ser139Leu S139L not reviewed Insufficiently evaluated not reviewed unknown Array rs3187711 1636 6324 0.258697 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - ALG1L Asn135Asp N135D not reviewed Insufficiently evaluated not reviewed unknown Array rs3828357 2009 6326 0.317578 33 0 35 0 0 - - - - - - - - - - - - - - - - 0.975 - - -1 - 1 N - - ALG1L Thr53Ile T53I not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - ALG1L Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ALG1L Gln37His Q37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - ALG1L Met7Leu M7L not reviewed Insufficiently evaluated not reviewed unknown Array rs72975415 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.305 - - -3 - 2 - 1 - - ALG2 Asp10Glu D10E not reviewed Insufficiently evaluated not reviewed unknown Array rs7023652 174 10648 0.0163411 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ALG3 Pro376Leu P376L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 7 Y 4 N - - ALG3 Pro424Leu P424L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.303 Y Y 7 Y 3 N - - ALG6 Thr251Ala T251A not reviewed Insufficiently evaluated not reviewed unknown Array rs61755863 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.098 Y Y 1 - 2 N - - ALG6 Ser304Phe S304F not reviewed Insufficiently evaluated not reviewed unknown Array rs4630153 99 120 0.825 47 0 82 1 1 3 Y 1 Y - - - - - - - - Y - - - - Y Y 5 Y 3 - 1 - - ALG8 Asn222Ser N222S not reviewed Insufficiently evaluated not reviewed unknown Array rs665278 1848 10758 0.171779 17 0 19 0 0 2 Y - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 1 - - ALG9 Ile357Ser I357S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ALG9 Ile364Ser I364S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ALG9 Tyr528Stop Y528X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - ALG9 Tyr535Stop Y535X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - ALG9 Cys289Tyr C289Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ALG9 Val118Ile V118I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ALG9 Ser84Leu S84L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ALK Asp1529Glu D1529E not reviewed Insufficiently evaluated not reviewed unknown Array rs1881421 4658 10758 0.43298 48 0 67 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 2 - - ALK Lys1491Arg K1491R not reviewed Insufficiently evaluated not reviewed unknown Array rs1881420 2402 10758 0.223276 30 0 39 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -3 - 3 - 2 - - ALK Ile1461Val I1461V not reviewed Insufficiently evaluated not reviewed unknown Array rs1670283 10640 10758 0.989031 56 0 110 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - ALK Ala1280Val A1280V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 2 - 4 N - - ALK Arg1061Gln R1061Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72852032 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.822 Y Y 0 - 3 N - - ALK Leu868Gln L868Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 5 Y 2 N - - ALK Thr680Ile T680I not reviewed Insufficiently evaluated not reviewed unknown Array rs35228363 230 10758 0.0213794 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.354 Y Y 3 - 3 N - - ALK Val476Ala V476A not reviewed Insufficiently evaluated not reviewed unknown Array rs35093491 281 10758 0.0261201 2 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ALK Ser289Phe S289F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.952 Y Y 5 Y 4 N - - ALK Val198Met V198M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10754 0.00195276 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.068 Y Y 0 - 2 N - - ALK Arg179Cys R179C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y 8 Y 4 - 2 - - ALK Trp110Gly W110G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.029 Y Y 7 Y 2 N - - ALKBH1 Met324Leu M324L not reviewed Insufficiently evaluated not reviewed unknown Array rs6494 1897 10758 0.176334 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ALKBH1 Asn286Asp N286D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - -1 - 1 N - - ALKBH1 Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALKBH2 Arg203His R203H not reviewed Insufficiently evaluated not reviewed unknown Array rs33962311 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.138 - - 1 - 0 N - - ALKBH3 Asp228Glu D228E not reviewed Insufficiently evaluated not reviewed unknown Array rs2434470 2163 10758 0.20106 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 1 N - - ALKBH4 Ala247Val A247V not reviewed Insufficiently evaluated not reviewed unknown Array rs41275227 1202 10750 0.111814 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ALKBH6 Pro176Ala P176A not reviewed Insufficiently evaluated not reviewed unknown Array 149 10410 0.0143132 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALKBH8 Gln233His Q233H not reviewed Insufficiently evaluated not reviewed unknown Array rs73553694 170 10748 0.0158169 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - ALKBH8 Asn79Lys N79K not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.082 - - 1 - 0 N - - ALLC Thr110Ile T110I not reviewed Insufficiently evaluated not reviewed unknown Array rs13426642 2158 9736 0.221652 27 0 27 2 2 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - The activity of uric acid degrading enzymes was lost during vertebrate evolution. Mammals lack functional allantoicase. The human allantoicase gene is transcribed, but the mRNA lacks a continuous open reading frame. Mutations are therefore of no consequence. ALMS1 Arg392Cys R392C not reviewed Insufficiently evaluated not reviewed unknown Array rs3813227 3774 9700 0.389072 33 0 54 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 1 - - ALMS1 Ile485Val I485V not reviewed Insufficiently evaluated not reviewed unknown Array 16 9648 0.00165837 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ALMS1 Val671Gly V671G not reviewed Insufficiently evaluated not reviewed unknown Array rs2037814 8628 9794 0.880948 56 0 102 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 1 - - ALMS1 Glu784Gly E784G not reviewed Insufficiently evaluated not reviewed unknown Array rs17848880 1 9672 0.000103391 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - ALMS1 Thr1030Ala T1030A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALMS1 Gly1414Ala G1414A not reviewed Insufficiently evaluated not reviewed unknown Array rs6546837 3763 9674 0.388981 33 0 54 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - ALMS1 Gly1466Val G1466V not reviewed Insufficiently evaluated not reviewed unknown Array 4 9736 0.000410846 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ALMS1 Asn1786Asp N1786D not reviewed Insufficiently evaluated not reviewed unknown Array 111 9618 0.0115409 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ALMS1 Ile1875Val I1875V not reviewed Insufficiently evaluated not reviewed unknown Array rs6546838 3708 9606 0.386009 32 0 50 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - ALMS1 Ile2070Thr I2070T not reviewed Insufficiently evaluated not reviewed unknown Array rs10496192 1291 9440 0.136758 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - ALMS1 Ser2111Arg S2111R not reviewed Insufficiently evaluated not reviewed unknown Array rs6724782 3745 9612 0.389617 33 0 54 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 3 - - ALMS1 Asp2154Gly D2154G not reviewed Insufficiently evaluated not reviewed unknown Array rs58093963 48 9588 0.00500626 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ALMS1 Arg2284Pro R2284P not reviewed Insufficiently evaluated not reviewed unknown Array rs6546839 3712 9528 0.389589 33 0 54 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 - 1 - - ALMS1 Asn2422Ser N2422S not reviewed Insufficiently evaluated not reviewed unknown Array 49 9828 0.00498575 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALMS1 Ser2574Asn S2574N not reviewed Insufficiently evaluated not reviewed unknown Array rs3820700 1174 9774 0.120115 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - ALMS1 Asp2672His D2672H not reviewed Insufficiently evaluated not reviewed unknown Array rs2017116 1239 9592 0.12917 12 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - ALMS1 Arg2826Ser R2826S not reviewed Insufficiently evaluated not reviewed unknown Array rs2056486 3686 9586 0.384519 33 0 52 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - ALMS1 Asn2856Ser N2856S not reviewed Insufficiently evaluated not reviewed unknown Array rs10193972 3746 9696 0.386345 33 0 52 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - ALMS1 Thr3295Ala T3295A not reviewed Insufficiently evaluated not reviewed unknown Array rs58806616 23 9500 0.00242105 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALMS1 Thr3542Ser T3542S not reviewed Insufficiently evaluated not reviewed unknown Array rs45501594 76 9670 0.00785936 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ALMS1 Gly3755Ser G3755S not reviewed Insufficiently evaluated not reviewed unknown Array rs34927702 218 9952 0.0219051 6 0 7 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ALMS1 Arg4029Lys R4029K not reviewed Insufficiently evaluated not reviewed unknown Array rs1052161 5811 10754 0.540357 43 0 60 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -3 - 3 - 1 - - ALOX12 Gln261Arg Q261R not reviewed Insufficiently evaluated not reviewed unknown Array rs1126667 6514 10758 0.605503 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALOX12 Asn322Ser N322S not reviewed Insufficiently evaluated not reviewed unknown Array rs434473 3734 10758 0.347091 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALOX12B Pro127Ser P127S benign Low clinical importance, Uncertain benign other Array rs72842957 180 10758 0.0167317 1 0 1 2 2 1 Y 0 - 0 - 0 - 3 Y 2 Y Y - - - 0.017 Y Y 3 - 3 - 1 0 0 This variant was found heterozygously in autosomal recessive congenital ichthyosis in two Turkish siblings, although the second mutation was not found. Later, Lesueur et al. observe that this variant has a 4% frequency in their North African controls and is likely just a rare SNP. ALOX15 Thr560Met T560M not reviewed Insufficiently evaluated not reviewed unknown Array rs34210653 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.388 - - 2 - 2 - 10 - - ALOX15 Val239Met V239M not reviewed Insufficiently evaluated not reviewed unknown Array 99 4304 0.0230019 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - ALOX15 Ile187Val I187V not reviewed Insufficiently evaluated not reviewed unknown Array rs61119773 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALOX15 Tyr139Cys Y139C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 1 - - ALOX15 Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array 129 10756 0.0119933 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ALOX15B Pro77Ala P77A not reviewed Insufficiently evaluated not reviewed unknown Array 238 10674 0.0222972 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 2 - 1 N - - ALOX15B Arg457His R457H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALOX15B Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array rs9895916 890 10758 0.0827291 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - ALOX15B Arg569Cys R569C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ALOX15B Arg614Cys R614C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ALOX15B Arg643Cys R643C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ALOX15B Gln582Arg Q582R not reviewed Insufficiently evaluated not reviewed unknown Array rs4792147 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALOX15B Gln627Arg Q627R not reviewed Insufficiently evaluated not reviewed unknown Array rs4792147 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALOX15B Gln656Arg Q656R not reviewed Insufficiently evaluated not reviewed unknown Array rs4792147 6540 10758 0.60792 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALOX15B Ile602Val I602V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALOX15B Ile647Val I647V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - -4 - 0 N - - ALOX15B Ile676Val I676V not reviewed Insufficiently evaluated not reviewed unknown Array rs7225107 877 10758 0.0815207 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.271 - - -4 - 0 N - - ALOX5 Glu254Lys E254K not reviewed Insufficiently evaluated not reviewed unknown Array rs2228065 315 10758 0.0292805 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - ALOX5 Ala549Val A549V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ALOX5AP Val21Ala V21A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 1 - 1 - - ALOXE3 Ile515Val I515V not reviewed Insufficiently evaluated not reviewed unknown Array rs3027205 379 10758 0.0352296 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y -4 - 3 - 1 - - ALOXE3 Leu237Met L237M pathogenic High clinical importance, Uncertain pathogenic recessive Array 31 10758 0.00288158 0 0 0 2 2 1 Y ! Y 0 Y 0 Y 4 Y 1 Y Y Y - - 0.557 Y Y -3 - Autosomal Recessive Congenital Ichthyosis 2 265 0 250 INF 5 N 2 2 0 Found in an 18m child with autosomal recessive congenital ichtyosis. In vitro studies showed activity similar to wild type, and family was unavailable for further study. Insufficient evidence exists to confirm pathogenicity of this variant. ALPI Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.915 - - 7 Y 3 - 3 - - ALPK1 Gln67Arg Q67R not reviewed Insufficiently evaluated not reviewed unknown Array rs33943680 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ALPK1 Asn175Asp N175D not reviewed Insufficiently evaluated not reviewed unknown Array rs6533616 1053 10758 0.0978806 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.272 - - -1 - 0 N - - ALPK1 Thr458Ala T458A not reviewed Insufficiently evaluated not reviewed unknown Array rs73841022 259 10758 0.0240751 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ALPK1 Gly565Asp G565D not reviewed Insufficiently evaluated not reviewed unknown Array rs2074388 7044 10758 0.654769 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ALPK1 His642Arg H642R not reviewed Insufficiently evaluated not reviewed unknown Array rs13148353 7317 10758 0.680145 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ALPK1 Gly681Asp G681D not reviewed Insufficiently evaluated not reviewed unknown Array rs35519493 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALPK1 Ser710Phe S710F not reviewed Insufficiently evaluated not reviewed unknown Array rs35633116 268 10758 0.0249117 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - ALPK1 Met732Ile M732I not reviewed Insufficiently evaluated not reviewed unknown Array rs2074379 7044 10758 0.654769 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ALPK1 Asp845His D845H not reviewed Insufficiently evaluated not reviewed unknown Array rs72898945 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ALPK1 Met861Thr M861T not reviewed Insufficiently evaluated not reviewed unknown Array rs11726117 7324 10758 0.680796 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ALPK1 Glu1101Lys E1101K not reviewed Insufficiently evaluated not reviewed unknown Array rs61163026 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.744 - - 0 - 1 N - - ALPK2 Ile2157Val I2157V not reviewed Insufficiently evaluated not reviewed unknown Array rs7240666 8949 10758 0.831846 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ALPK2 Arg1884Cys R1884C not reviewed Insufficiently evaluated not reviewed unknown Array rs33969768 417 10758 0.0387619 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.699 - - 8 Y 2 - 3 - - ALPK2 His1767Tyr H1767Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7234999 1214 10758 0.112846 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - ALPK2 Lys1730Glu K1730E not reviewed Insufficiently evaluated not reviewed unknown Array rs17065127 544 10758 0.050567 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 1 N - - ALPK2 Gln1579Arg Q1579R not reviewed Insufficiently evaluated not reviewed unknown Array rs33910491 1070 10758 0.0994609 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - ALPK2 Ala1551Ser A1551S not reviewed Insufficiently evaluated not reviewed unknown Array rs3809983 4421 10758 0.41095 30 0 35 0 0 - - - - - - - - - - - - - - - - 0.092 - - -1 - 0 N - - ALPK2 Pro1449Ser P1449S not reviewed Insufficiently evaluated not reviewed unknown Array rs3809982 4398 10754 0.408964 30 0 35 0 0 - - - - - - - - - - - - - - - - 0.966 - - 3 - 1 N - - ALPK2 Val1211Ile V1211I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - ALPK2 His1174Pro H1174P not reviewed Insufficiently evaluated not reviewed unknown Array rs3809977 7350 10758 0.683213 45 0 65 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - ALPK2 Gly1063Val G1063V not reviewed Insufficiently evaluated not reviewed unknown Array rs34347938 165 10758 0.0153374 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.482 - - 8 Y 2 - 2 - - ALPK2 Leu1057Val L1057V not reviewed Insufficiently evaluated not reviewed unknown Array rs3809976 7361 10758 0.684235 46 0 67 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - ALPK2 Tyr978His Y978H not reviewed Insufficiently evaluated not reviewed unknown Array rs61741045 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ALPK2 Ser977Thr S977T not reviewed Insufficiently evaluated not reviewed unknown Array rs3809975 244 10758 0.0226808 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.45 - - -2 - 2 - 3 - - ALPK2 Asn916Lys N916K not reviewed Insufficiently evaluated not reviewed unknown Array rs4940404 5464 10758 0.507901 38 0 45 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 1 N - - ALPK2 Thr891Ile T891I not reviewed Insufficiently evaluated not reviewed unknown Array rs3826593 9092 10758 0.845138 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ALPK2 Ser884Leu S884L not reviewed Insufficiently evaluated not reviewed unknown Array rs3809974 531 10758 0.0493586 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - ALPK2 Phe863Leu F863L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738805 163 10758 0.0151515 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ALPK2 Lys829Asn K829N not reviewed Insufficiently evaluated not reviewed unknown Array rs3809973 5460 10758 0.507529 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.923 - - 1 - 1 N - - ALPK2 Arg825Thr R825T not reviewed Insufficiently evaluated not reviewed unknown Array rs3809972 5464 10758 0.507901 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ALPK2 Gly810Ser G810S not reviewed Insufficiently evaluated not reviewed unknown Array rs3809970 5464 10758 0.507901 38 0 45 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 0 N - - ALPK2 His719Gln H719Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12103986 5471 10758 0.508552 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.215 - - -1 - 0 N - - ALPK2 Arg136Ser R136S not reviewed Insufficiently evaluated not reviewed unknown Array rs9944810 4716 10408 0.453113 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ALPK2 Ser101Phe S101F not reviewed Insufficiently evaluated not reviewed unknown Array 11 9826 0.00111948 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 5 Y 0 N - - ALPK2 Lys2Thr K2T not reviewed Insufficiently evaluated not reviewed unknown Array rs6566987 7966 9482 0.840118 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ALPK3 Ala237Val A237V not reviewed Insufficiently evaluated not reviewed unknown Array 62 7508 0.00825786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - ALPK3 Thr414Ser T414S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803403 2107 10758 0.195854 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.436 - - -2 - 0 N - - ALPK3 Gly579Glu G579E not reviewed Insufficiently evaluated not reviewed unknown Array rs3803405 2088 10752 0.194196 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 1 N - - ALPK3 Gln602Arg Q602R not reviewed Insufficiently evaluated not reviewed unknown Array 247 10754 0.0229682 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 2 N - - ALPK3 Thr1068Met T1068M not reviewed Insufficiently evaluated not reviewed unknown Array rs35292668 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.42 - - 2 - 1 N - - ALPK3 Pro1299Leu P1299L not reviewed Insufficiently evaluated not reviewed unknown Array rs306197 8453 10718 0.788673 49 0 88 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ALPK3 Ala1557Asp A1557D not reviewed Insufficiently evaluated not reviewed unknown Array rs34775428 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - ALPK3 Leu1622Pro L1622P not reviewed Insufficiently evaluated not reviewed unknown Array rs187316 2072 10758 0.192601 17 0 24 0 0 - - - - - - - - - - - - - - - - 0.895 - - 7 Y 1 N - - ALPK3 Arg1808Trp R1808W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.768 - - 7 Y 1 N - - ALPK3 Ala1873Val A1873V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 2 - 1 - 3 - - ALPL Tyr263His Y263H not reviewed Insufficiently evaluated not reviewed unknown Array rs3200254 1757 10758 0.16332 22 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 3 - - ALPL Gly509Val G509V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ALPP Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array rs1130335 708 10758 0.0658115 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - ALPP Ile89Leu I89L not reviewed Insufficiently evaluated not reviewed unknown Array rs13026692 3228 10758 0.300056 39 0 46 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ALPPL2 His260Arg H260R not reviewed Insufficiently evaluated not reviewed unknown Array 1442 10746 0.134189 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ALPPL2 Leu273Met L273M not reviewed Insufficiently evaluated not reviewed unknown Array rs17416141 2837 10600 0.267642 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ALPPL2 Leu316Arg L316R not reviewed Insufficiently evaluated not reviewed unknown Array rs1048992 1367 5878 0.232562 20 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ALPPL2 Arg498Ser R498S not reviewed Insufficiently evaluated not reviewed unknown Array 827 10562 0.0782996 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - ALPPL2 Pro509Arg P509R not reviewed Insufficiently evaluated not reviewed unknown Array 779 10376 0.0750771 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 5 Y 0 N - - ALS2 Val368Met V368M not reviewed Insufficiently evaluated not reviewed unknown Array rs3219156 8448 9838 0.858711 54 0 98 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 5 - - ALS2CL Ser296Phe S296F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALS2CL Ser949Phe S949F not reviewed Insufficiently evaluated not reviewed unknown Array rs77367607 205 10758 0.0190556 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - ALS2CL Glu45Gln E45Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7642448 4590 10756 0.426739 38 0 51 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 0 N - - ALS2CL Gln29Arg Q29R not reviewed Insufficiently evaluated not reviewed unknown Array rs59661801 107 10750 0.00995349 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 2 N - - ALS2CR11 Arg582Gln R582Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - ALS2CR11 His376Gln H376Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10804117 4106 10732 0.382594 36 0 45 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ALS2CR11 Thr282Ile T282I not reviewed Insufficiently evaluated not reviewed unknown Array rs73991652 655 10758 0.0608849 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.799 - - 3 - 0 N - - ALS2CR12 Val43Leu V43L not reviewed Insufficiently evaluated not reviewed unknown Array rs13014235 6955 10756 0.646616 53 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALS2CR4 Ala358Ser A358S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALS2CR4 Ala366Ser A366S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALS2CR8 Gln77His Q77H not reviewed Insufficiently evaluated not reviewed unknown Array 404 9688 0.0417011 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - ALS2CR8 Tyr571Phe Y571F not reviewed Insufficiently evaluated not reviewed unknown Array rs72932557 952 9608 0.0990841 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ALX1 His89Arg H89R not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ALX4 Pro102Ser P102S not reviewed Insufficiently evaluated not reviewed unknown Array rs12421995 1589 5266 0.301747 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 2 - - ALX4 Pro76Thr P76T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 4 Y 4 N - - ALX4 Arg35Thr R35T not reviewed Insufficiently evaluated not reviewed unknown Array rs3824915 4507 10750 0.419256 37 0 48 0 0 5 Y - - - - - - - - - - Y - - - 0.985 Y Y 3 - 4 - 2 - - AMAC1 Val222Met V222M not reviewed Insufficiently evaluated not reviewed unknown Array rs61755898 217 10754 0.0201785 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.684 - - 0 - 1 N - - AMAC1 Ala121Val A121V not reviewed Insufficiently evaluated not reviewed unknown Array rs8079507 671 10758 0.0623722 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.933 - - 2 - 1 N - - AMAC1L2 Arg30Cys R30C not reviewed Insufficiently evaluated not reviewed unknown Array rs4841520 439 10754 0.040822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AMAC1L2 Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array rs13260331 3086 10758 0.286856 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.593 - - 2 - 0 N - - AMAC1L2 Gly46Asp G46D not reviewed Insufficiently evaluated not reviewed unknown Array rs6990563 4043 10758 0.375813 9 0 13 0 0 - - - - - - - - - - - - - - - - 0.95 - - 4 Y 1 N - - AMAC1L2 Trp103Arg W103R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AMAC1L2 Cys234Ser C234S not reviewed Insufficiently evaluated not reviewed unknown Array rs2736269 7488 10702 0.699682 45 0 84 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AMAC1L2 Cys255Phe C255F not reviewed Insufficiently evaluated not reviewed unknown Array rs58797482 341 10758 0.0316973 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - AMAC1L2 Leu307Pro L307P not reviewed Insufficiently evaluated not reviewed unknown Array rs12681991 2284 10744 0.212584 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AMAC1L2 Arg326Trp R326W not reviewed Insufficiently evaluated not reviewed unknown Array rs62488717 2794 10758 0.259714 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AMAC1L3 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array rs3760422 1533 10756 0.142525 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.802 - - 1 - 0 N - - AMAC1L3 Pro251Leu P251L not reviewed Insufficiently evaluated not reviewed unknown Array rs4491591 10173 10750 0.946326 51 0 97 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AMAC1L3 Ala263Thr A263T not reviewed Insufficiently evaluated not reviewed unknown Array rs7209977 2604 10756 0.242097 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AMAC1L3 Trp326Arg W326R not reviewed Insufficiently evaluated not reviewed unknown Array rs66615310 7452 10758 0.692694 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - AMAC1L3 Trp326Stop W326X not reviewed Insufficiently evaluated not reviewed unknown Array rs7214088 7449 10758 0.692415 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - AMACR Glu277Lys E277K not reviewed Insufficiently evaluated not reviewed unknown Array rs2278008 8129 10758 0.755624 55 0 90 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - AMACR Gln239His Q239H not reviewed Insufficiently evaluated not reviewed unknown Array rs34677 1266 10758 0.11768 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 5 - - AMACR Val186Phe V186F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - AMACR Pro238Ser P238S not reviewed Insufficiently evaluated not reviewed unknown Array rs9282594 295 10758 0.0274215 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 5 - - AMACR Thr184Ile T184I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - AMACR Leu201Ser L201S not reviewed Insufficiently evaluated not reviewed unknown Array rs2287939 8043 10758 0.74763 52 0 88 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 2 - 1 - - AMACR Gly175Asp G175D not reviewed Insufficiently evaluated not reviewed unknown Array rs10941112 4100 10758 0.381112 28 0 38 0 0 5 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 - 6 - - AMACR Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16892150 371 10758 0.034486 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 5 - - AMACR Val9Met V9M not reviewed Insufficiently evaluated not reviewed unknown Array rs3195676 4454 10730 0.415098 29 0 40 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 4 - - AMBN Ala255Val A255V not reviewed Insufficiently evaluated not reviewed unknown Array rs7439186 1013 10758 0.0941625 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.903 - - 2 - 1 N - - AMBN Leu354Pro L354P not reviewed Insufficiently evaluated not reviewed unknown Array rs72654387 429 10756 0.0398847 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 3 - 1 - - AMBRA1 Ala342Val A342V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMBRA1 Ser252Phe S252F not reviewed Insufficiently evaluated not reviewed unknown Array rs73449929 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 1 N - - AMBRA1 Gly114Ser G114S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - AMBRA1 Val3Phe V3F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - AMDHD1 Ser3Gly S3G not reviewed Insufficiently evaluated not reviewed unknown Array rs7955450 2576 6288 0.409669 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AMDHD1 Asn369Ser N369S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - AMFR Asp425Tyr D425Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - AMFR Thr210Ile T210I not reviewed Insufficiently evaluated not reviewed unknown Array rs73546000 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - AMH Ser49Ile S49I not reviewed Insufficiently evaluated not reviewed unknown Array rs10407022 7910 10728 0.737323 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AMH Val515Ala V515A not reviewed Insufficiently evaluated not reviewed unknown Array rs10417628 10522 10698 0.983548 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AMICA1 Ile312Met I312M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMICA1 Ile322Met I322M not reviewed Insufficiently evaluated not reviewed unknown Array rs2298831 2447 10756 0.227501 29 0 30 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - AMICA1 Val183Ala V183A not reviewed Insufficiently evaluated not reviewed unknown Array rs1793174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMICA1 Val193Ala V193A not reviewed Insufficiently evaluated not reviewed unknown Array rs1793174 8704 10758 0.809072 54 0 97 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - AMICA1 Ile84Asn I84N not reviewed Insufficiently evaluated not reviewed unknown Array rs17121881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AMICA1 Ile94Asn I94N not reviewed Insufficiently evaluated not reviewed unknown Array rs17121881 4771 10758 0.443484 27 0 41 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 1 N - - AMIGO2 Val411Leu V411L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.542 - - 0 - 1 N - - AMMECR1L Val103Leu V103L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - AMMECR1L Pro42Ser P42S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - AMN Met55Ile M55I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731158 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.129 Y Y -1 - 3 - 10 - - AMOT Thr490Ala T490A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AMOT Thr899Ala T899A not reviewed Insufficiently evaluated not reviewed unknown Array 56 8615 0.00650029 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AMOT Lys409Arg K409R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AMOT Lys818Arg K818R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.55 - - -3 - 1 N - - AMOTL1 Pro847Leu P847L not reviewed Insufficiently evaluated not reviewed unknown Array rs11020968 812 10562 0.0768794 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.07 - - 7 Y 0 N - - AMOTL1 Arg898Trp R898W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - AMOTL2 Glu732Asp E732D not reviewed Insufficiently evaluated not reviewed unknown Array rs1353776 7906 10758 0.734895 49 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AMOTL2 Leu493Ile L493I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.888 - - -2 - 2 N - - AMPD1 Pro48Leu P48L benign Low clinical importance, Uncertain benign unknown Array rs61752479 1012 10758 0.0940695 5 0 5 1 1 0 Y - - 0 Y - - - - - - Y - - - 0.999 Y - 7 Y 3 - 5 0 0 Probably benign, ancestral to15173240 pathogenic Q12X mutation. AMPD1 Gln12Stop Q12X pathogenic Low clinical importance, Likely pathogenic recessive Array rs17602729 1001 10756 0.0930643 5 0 5 1 1 2 Y - - 5 Y - - 2 - 1 - Y - - - - Y - 10 Y 3 - 10 0 1 Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly. AMPD2 Ala82Thr A82T not reviewed Insufficiently evaluated not reviewed unknown Array rs28362581 1413 10742 0.13154 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AMPD3 Arg185Trp R185W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 7 Y 0 N - - AMPD3 Arg192Trp R192W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AMPD3 Arg194Trp R194W not reviewed Insufficiently evaluated not reviewed unknown Array rs11042836 660 10758 0.0613497 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AMPD3 Arg306Trp R306W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - AMPD3 Arg313Trp R313W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - AMPD3 Arg315Trp R315W not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AMPD3 Arg356Gln R356Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 2 - - AMPD3 Arg363Gln R363Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - AMPD3 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61388455 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AMPD3 Gly361Ser G361S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMPD3 Gly368Ser G368S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMPD3 Gly370Ser G370S not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMPD3 Tyr455His Y455H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMPD3 Tyr462His Y462H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMPD3 Tyr464His Y464H not reviewed Insufficiently evaluated not reviewed unknown Array rs36003153 262 10758 0.024354 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMPD3 Phe583Ser F583S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - AMPD3 Phe590Ser F590S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AMPD3 Phe592Ser F592S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AMPH Lys454Thr K454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - AMPH Lys496Thr K496T not reviewed Insufficiently evaluated not reviewed unknown Array rs35024632 594 10758 0.0552147 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 1 - 3 - - AMPH Ala442Ser A442S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMPH Ala484Ser A484S not reviewed Insufficiently evaluated not reviewed unknown Array rs73348825 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMPH Met376Ile M376I not reviewed Insufficiently evaluated not reviewed unknown Array rs17171345 316 10758 0.0293735 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.318 - - -1 - 2 - 3 - - AMT Cys351Trp C351W not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 5 - 1 - - AMTN Arg15Trp R15W not reviewed Insufficiently evaluated not reviewed unknown Array rs35286445 1131 10758 0.105131 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - AMTN Asn45Ser N45S not reviewed Insufficiently evaluated not reviewed unknown Array rs7660807 659 10758 0.0612567 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.605 - - 0 - 0 N - - AMTN Ser50Pro S50P not reviewed Insufficiently evaluated not reviewed unknown Array rs34803339 285 10758 0.0264919 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - AMY2A His230Arg H230R not reviewed Insufficiently evaluated not reviewed unknown Array 17 9846 0.00172659 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 1 - 2 N - - AMY2A Val280Ile V280I not reviewed Insufficiently evaluated not reviewed unknown Array 828 10342 0.0800619 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - -4 - 0 N - - AMZ1 Arg491His R491H not reviewed Insufficiently evaluated not reviewed unknown Array rs7776970 3965 10632 0.372931 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AMZ2 Asn30Asp N30D not reviewed Insufficiently evaluated not reviewed unknown Array rs3213690 8195 10758 0.761759 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ANAPC1 Ile881Thr I881T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANAPC1 His805Gln H805Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANAPC1 Ile485Val I485V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANAPC1 Gln465Stop Q465X not reviewed Insufficiently evaluated not reviewed unknown Array 3693 10758 0.343279 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ANAPC1 Gln451His Q451H not reviewed Insufficiently evaluated not reviewed unknown Array 3160 10758 0.293735 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ANAPC10 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ANAPC11 Ser43Arg S43R not reviewed Insufficiently evaluated not reviewed unknown Array rs74006125 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANAPC4 Arg465Gln R465Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34811474 1680 10754 0.156221 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANGEL1 Phe515Cys F515C not reviewed Insufficiently evaluated not reviewed unknown Array rs2075773 1151 10758 0.10699 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 1 N - - ANGEL1 Met283Ile M283I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - -1 - 0 N - - ANGEL1 Gly141Trp G141W not reviewed Insufficiently evaluated not reviewed unknown Array rs34270005 641 10758 0.0595836 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ANGEL2 Pro97Ser P97S not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 3 - - ANGEL2 Asn77His N77H not reviewed Insufficiently evaluated not reviewed unknown Array rs59221415 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - ANGEL2 Arg44Ser R44S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 3 - 1 - 1 - - ANGPT1 Leu247Pro L247P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - ANGPT2 Val281Ile V281I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - ANGPT2 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - ANGPT2 Val333Ile V333I not reviewed Insufficiently evaluated not reviewed unknown Array rs7813215 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 1 - 3 - - ANGPT4 Pro315Leu P315L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ANGPT4 Met152Val M152V not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANGPTL3 Lys176Asn K176N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 1 - 0 N - - ANGPTL4 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array rs11544610 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - ANGPTL4 Thr228Met T228M not reviewed Insufficiently evaluated not reviewed unknown Array rs1044250 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANGPTL4 Thr266Met T266M not reviewed Insufficiently evaluated not reviewed unknown Array rs1044250 3121 10758 0.29011 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ANGPTL5 Arg192Trp R192W not reviewed Insufficiently evaluated not reviewed unknown Array rs3858418 10696 10758 0.994237 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ANGPTL7 Glu51Asp E51D not reviewed Insufficiently evaluated not reviewed unknown Array rs28990992 271 10758 0.0251906 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANGPTL7 Gln175His Q175H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 2 - - ANK1 Asn108Tyr N108Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 5 Y 2 N - - ANK1 Asn155Tyr N155Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 5 Y 2 N - - ANK1 Asn1718Tyr N1718Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 5 Y 2 N - - ANK1 Asn1855Tyr N1855Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 5 Y 2 N - - ANK1 Asn1880Tyr N1880Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - Y 5 Y 1 N - - ANK1 Asn1896Tyr N1896Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 5 Y 2 N - - ANK1 Met1325Val M1325V not reviewed Insufficiently evaluated not reviewed unknown Array rs10093583 8 126 0.0634921 4 0 6 0 0 - - - - - - - - - - - - - - - - - - Y 0 - 1 N - - ANK1 Met1366Val M1366V not reviewed Insufficiently evaluated not reviewed unknown Array 476 10758 0.0442461 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 0 - 2 N - - ANK1 Ser1214Leu S1214L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - Y 6 Y 2 - 1 - - ANK1 Ser1255Leu S1255L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 6 Y 3 - 1 - - ANK1 Thr1075Ile T1075I not reviewed Insufficiently evaluated not reviewed unknown Array rs35213384 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - Y 3 - 2 - 4 - - ANK1 Thr1116Ile T1116I not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 3 - 3 - 3 - - ANK1 Arg832Gln R832Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34523608 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - Y 0 - 3 - 2 - - ANK1 Arg873Gln R873Q not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - Y 0 - 2 - 2 - - ANK1 Arg619His R619H not reviewed Insufficiently evaluated not reviewed unknown Array rs2304877 10 124 0.0806452 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.689 - Y 1 - 1 N - - ANK1 Arg652His R652H not reviewed Insufficiently evaluated not reviewed unknown Array rs2304877 560 10758 0.0520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - Y 1 - 1 N - - ANK1 Glu557Gly E557G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - Y 6 Y 1 N - - ANK1 Glu590Gly E590G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 6 Y 2 N - - ANK1 Asp260Gly D260G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - Y 4 Y 3 N - - ANK1 Asp293Gly D293G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - Y 4 Y 4 - 1 - - ANK2 Gly1243Arg G1243R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ANK2 Gly1252Arg G1252R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ANK2 Gly2212Ser G2212S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734478 210 10756 0.019524 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ANK2 Ala2336Val A2336V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734477 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ANK2 Val2369Ala V2369A not reviewed Insufficiently evaluated not reviewed unknown Array rs28377576 1539 10758 0.143056 14 0 14 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 2 - 2 - - ANK2 Pro2835Ser P2835S not reviewed Insufficiently evaluated not reviewed unknown Array rs3733617 1589 10758 0.147704 19 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 4 - - ANK2 Ala3021Thr A3021T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.274 Y - 1 - 2 N - - ANK2 Arg1474Trp R1474W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ANK2 Arg1483Trp R1483W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ANK2 Arg3568Trp R3568W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ANK3 Asp794Tyr D794Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANK3 Lys3123Arg K3123R not reviewed Insufficiently evaluated not reviewed unknown Array rs10821668 2013 10758 0.187117 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ANK3 Thr3046Ser T3046S not reviewed Insufficiently evaluated not reviewed unknown Array rs74153183 760 10758 0.0706451 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANK3 Gln2996His Q2996H not reviewed Insufficiently evaluated not reviewed unknown Array rs41274672 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ANK3 Leu2870Phe L2870F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANK3 Lys2869Thr K2869T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANK3 Lys2318Arg K2318R not reviewed Insufficiently evaluated not reviewed unknown Array rs59021407 70 10758 0.00650678 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - ANKAR Val488Ile V488I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKAR Ala576Thr A576T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKAR Leu1006Phe L1006F not reviewed Insufficiently evaluated not reviewed unknown Array rs1225090 10525 10758 0.978342 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKAR Tyr1191Ser Y1191S not reviewed Insufficiently evaluated not reviewed unknown Array 84 10756 0.00780959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKDD1A Arg87Cys R87C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKDD1A Lys355Glu K355E not reviewed Insufficiently evaluated not reviewed unknown Array rs34988193 3076 10758 0.285927 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 1 N - - ANKFN1 Val445Ile V445I not reviewed Insufficiently evaluated not reviewed unknown Array rs10852985 7487 10754 0.696206 53 0 93 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - ANKH Leu279Phe L279F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 - Y 0 - 1 N - - ANKH Gly94Glu G94E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 - Y 6 Y 3 N - - ANKHD1 Asn1760Ser N1760S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ANKHD1-EIF4EBP3 Asn1760Ser N1760S not reviewed Insufficiently evaluated not reviewed unknown Array rs3752704 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKIB1 Leu1016Met L1016M not reviewed Insufficiently evaluated not reviewed unknown Array rs38794 4405 9958 0.442358 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.178 - - -3 - 0 N - - ANKK1 Ala239Thr A239T not reviewed Insufficiently evaluated not reviewed unknown Array rs7118900 2306 10128 0.227686 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 1 N - - ANKK1 Gly318Arg G318R not reviewed Insufficiently evaluated not reviewed unknown Array rs11604671 3881 10522 0.368846 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - ANKK1 Gly442Arg G442R not reviewed Insufficiently evaluated not reviewed unknown Array rs4938016 6568 10496 0.625762 38 0 58 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANKK1 His490Arg H490R not reviewed Insufficiently evaluated not reviewed unknown Array rs2734849 3918 10170 0.385251 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANKK1 Glu713Lys E713K pathogenic Insufficiently evaluated pathogenic unknown Array rs1800497 2430 10274 0.236519 27 0 35 18 17 - - - - - - - - - - - - - Y - Y - - - 0 - 2 N - - ANKLE1 Ala31Thr A31T not reviewed Insufficiently evaluated not reviewed unknown Array rs8100241 3334 7482 0.445603 24 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKLE1 Ala71Val A71V not reviewed Insufficiently evaluated not reviewed unknown Array rs1864116 5500 6320 0.870253 27 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKLE1 Leu94Gln L94Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8108174 3901 8896 0.438512 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ANKLE1 Leu184Trp L184W not reviewed Insufficiently evaluated not reviewed unknown Array rs2363956 5523 10756 0.513481 39 0 57 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ANKLE1 Thr311Pro T311P not reviewed Insufficiently evaluated not reviewed unknown Array rs891017 8620 10758 0.801264 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ANKLE1 Gln435Arg Q435R not reviewed Insufficiently evaluated not reviewed unknown Array rs11086065 8625 10758 0.801729 15 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKLE2 Gly891Ala G891A not reviewed Insufficiently evaluated not reviewed unknown Array 451 10210 0.0441724 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - ANKLE2 Leu839Val L839V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - ANKLE2 Arg720His R720H not reviewed Insufficiently evaluated not reviewed unknown Array rs10781634 3077 9874 0.311626 16 0 23 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ANKLE2 Glu680Lys E680K not reviewed Insufficiently evaluated not reviewed unknown Array 513 9936 0.0516304 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.374 - - 0 - 0 N - - ANKLE2 Arg654Gln R654Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 9776 0.00245499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.494 - - 0 - 1 N - - ANKLE2 Thr629Met T629M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 2 - 1 N - - ANKLE2 Gln148Glu Q148E not reviewed Insufficiently evaluated not reviewed unknown Array rs7968520 1098 9784 0.112224 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - ANKLE2 His122Tyr H122Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1132375 2999 9824 0.305273 21 0 29 0 0 - - - - - - - - - - - - - - - - 0.906 - - -1 - 1 N - - ANKMY1 Thr649Met T649M not reviewed Insufficiently evaluated not reviewed unknown Array rs35044862 1604 10758 0.149098 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKMY1 Val331Leu V331L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKMY1 Val472Leu V472L not reviewed Insufficiently evaluated not reviewed unknown Array rs3821348 1552 10758 0.144265 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ANKMY1 Ile283Met I283M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKMY1 Ile424Met I424M not reviewed Insufficiently evaluated not reviewed unknown Array rs35996697 1956 10758 0.181818 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - ANKMY1 His179Asn H179N not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - ANKMY1 Ser123Thr S123T not reviewed Insufficiently evaluated not reviewed unknown Array rs74001686 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ANKRA2 Ala97Ser A97S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.535 - - -1 - 1 N - - ANKRD1 Ala276Val A276V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 1 - 1 - - ANKRD1 Leu256Met L256M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - ANKRD10 Pro320Leu P320L not reviewed Insufficiently evaluated not reviewed unknown Array rs3742185 338 10758 0.0314185 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD11 Asp2376Glu D2376E not reviewed Insufficiently evaluated not reviewed unknown Array 353 6006 0.0587746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKRD11 Pro2263Ser P2263S not reviewed Insufficiently evaluated not reviewed unknown Array 98 7464 0.0131297 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - ANKRD11 Met2166Arg M2166R not reviewed Insufficiently evaluated not reviewed unknown Array rs74033733 104 10520 0.00988593 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ANKRD11 Ala2023Pro A2023P not reviewed Insufficiently evaluated not reviewed unknown Array rs60520302 195 7944 0.0245468 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD11 Ala1780Thr A1780T not reviewed Insufficiently evaluated not reviewed unknown Array 59 10752 0.00548735 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD11 Ala971Val A971V not reviewed Insufficiently evaluated not reviewed unknown Array rs2279348 7446 10756 0.692265 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKRD11 Arg809Lys R809K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - -3 - 2 N - - ANKRD12 Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - ANKRD12 Pro254Ala P254A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ANKRD12 Pro277Ala P277A not reviewed Insufficiently evaluated not reviewed unknown Array rs2298548 724 10758 0.0672988 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - ANKRD12 Thr484Ile T484I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD12 Thr507Ile T507I not reviewed Insufficiently evaluated not reviewed unknown Array rs17498752 701 10744 0.0652457 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - ANKRD12 Ser795Asn S795N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD12 Ser818Asn S818N not reviewed Insufficiently evaluated not reviewed unknown Array rs2298546 199 10708 0.0185842 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD12 Thr817Asn T817N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD12 Thr840Asn T840N not reviewed Insufficiently evaluated not reviewed unknown Array rs72939232 803 10684 0.0751591 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD12 Lys883Arg K883R not reviewed Insufficiently evaluated not reviewed unknown Array rs4798791 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - ANKRD12 Lys906Arg K906R not reviewed Insufficiently evaluated not reviewed unknown Array rs4798791 5821 10738 0.542094 45 0 62 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 1 N - - ANKRD12 Leu975Ser L975S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - ANKRD12 Leu998Ser L998S not reviewed Insufficiently evaluated not reviewed unknown Array 216 10616 0.0203466 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - ANKRD12 Glu1025Gly E1025G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD12 Glu1048Gly E1048G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ANKRD12 Thr1601Pro T1601P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD12 Thr1624Pro T1624P not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - ANKRD12 Ser1735Pro S1735P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD12 Ser1758Pro S1758P not reviewed Insufficiently evaluated not reviewed unknown Array rs3744822 909 10758 0.0844953 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ANKRD16 Gln318Arg Q318R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - ANKRD16 Gln353Arg Q353R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052420 8821 10758 0.819948 54 0 89 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ANKRD16 His277Arg H277R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD16 His312Arg H312R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729846 742 10758 0.0689719 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - ANKRD16 Ile286Val I286V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD16 Ala128Gly A128G not reviewed Insufficiently evaluated not reviewed unknown Array rs2296136 279 10758 0.0259342 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ANKRD17 Ser1863Cys S1863C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD17 Ser2114Cys S2114C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - ANKRD17 Thr1728Ala T1728A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD17 Thr1979Ala T1979A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANKRD17 Pro1690Leu P1690L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD17 Pro1941Leu P1941L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - ANKRD17 Ser1284Cys S1284C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD17 Ser1535Cys S1535C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 3 - 1 N - - ANKRD17 Gln647Arg Q647R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.628 - - 0 - 1 N - - ANKRD2 Ala62Thr A62T not reviewed Insufficiently evaluated not reviewed unknown Array rs7094973 6044 10738 0.562861 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD20A1 Ala519Thr A519T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD20A1 Arg638Gln R638Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A1 Ala673Thr A673T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD20A1 Arg679Cys R679C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKRD20A3 Ala519Thr A519T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD20A3 Arg638Gln R638Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A3 Ala673Thr A673T not reviewed Insufficiently evaluated not reviewed unknown Array 1887 8108 0.232733 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD20A3 Arg679Cys R679C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKRD20A4 Asp605Glu D605E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A4 Ile606Thr I606T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - ANKRD20A4 Gln638Glu Q638E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - ANKRD20A4 Met646Arg M646R not reviewed Insufficiently evaluated not reviewed unknown Array 2163 9848 0.219639 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 0 N - - ANKRD20A4 Glu666Lys E666K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A4 Ala673Thr A673T not reviewed Insufficiently evaluated not reviewed unknown Array 25 1714 0.0145858 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD20A4 Ser684Thr S684T not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A4 Ser689Leu S689L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - ANKRD20A4 Gln696His Q696H not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.14 - - -1 - 0 N - - ANKRD22 Arg177Ile R177I not reviewed Insufficiently evaluated not reviewed unknown Array rs7912706 373 10758 0.0346719 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 2 - - ANKRD22 Gln148Pro Q148P not reviewed Insufficiently evaluated not reviewed unknown Array rs2304804 987 10758 0.0917457 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.907 - - 4 Y 1 N - - ANKRD23 Thr303Pro T303P not reviewed Insufficiently evaluated not reviewed unknown Array 1 9978 0.00010022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - ANKRD24 Ala111Thr A111T not reviewed Insufficiently evaluated not reviewed unknown Array rs2052191 4465 9896 0.451192 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD24 Arg349Gln R349Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12978469 6317 10210 0.618707 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.581 - - 0 - 0 N - - ANKRD24 Glu585Lys E585K not reviewed Insufficiently evaluated not reviewed unknown Array rs10413818 7414 10202 0.72672 46 0 72 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 0 N - - ANKRD24 Ser684Ala S684A not reviewed Insufficiently evaluated not reviewed unknown Array rs353693 9978 10562 0.944707 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ANKRD24 Thr785Ser T785S not reviewed Insufficiently evaluated not reviewed unknown Array rs12980998 573 4274 0.134066 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKRD26 Phe1514Leu F1514L not reviewed Insufficiently evaluated not reviewed unknown Array rs2274741 1625 9476 0.171486 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKRD26 Val1305Ile V1305I not reviewed Insufficiently evaluated not reviewed unknown Array rs10829163 1624 9422 0.172363 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANKRD26 Val1220Leu V1220L not reviewed Insufficiently evaluated not reviewed unknown Array rs12572862 18 9546 0.00188561 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.637 - - 0 - 2 - 2 - - ANKRD26 Gln862Glu Q862E not reviewed Insufficiently evaluated not reviewed unknown Array 21 9522 0.00220542 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD26 Ser691Pro S691P not reviewed Insufficiently evaluated not reviewed unknown Array rs73596345 113 9604 0.0117659 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ANKRD26 Arg623Gln R623Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28477279 246 9538 0.0257916 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD26 Gln583Glu Q583E not reviewed Insufficiently evaluated not reviewed unknown Array 22 9790 0.00224719 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.898 - - -2 - 2 N - - ANKRD26 Ile425Val I425V not reviewed Insufficiently evaluated not reviewed unknown Array rs12359281 390 9384 0.0415601 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.696 - - -4 - 1 N - - ANKRD26 Leu323Pro L323P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.554 - - 7 Y 1 N - - ANKRD26 Asn111Ser N111S not reviewed Insufficiently evaluated not reviewed unknown Array 85 10088 0.00842585 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ANKRD26 Gln20Arg Q20R not reviewed Insufficiently evaluated not reviewed unknown Array rs7897309 8538 9534 0.895532 21 0 37 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ANKRD27 Ser799Leu S799L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 6 Y 0 N - - ANKRD27 Pro761Arg P761R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302970 4414 10758 0.410299 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ANKRD27 Ser657Gly S657G not reviewed Insufficiently evaluated not reviewed unknown Array rs2287669 5928 10758 0.551032 42 0 57 0 0 - - - - - - - - - - - - - - - - 0.11 - - 2 - 0 N - - ANKRD28 Ser880Gly S880G not reviewed Insufficiently evaluated not reviewed unknown Array rs34208188 286 9708 0.0294602 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD30A Thr125Met T125M not reviewed Insufficiently evaluated not reviewed unknown Array rs34042320 438 9440 0.0463983 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD30A Glu287Gly E287G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD30A Glu304Lys E304K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD30A Ser307Arg S307R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD30A Thr555Ala T555A not reviewed Insufficiently evaluated not reviewed unknown Array rs16937417 81 9452 0.00856961 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ANKRD30A Lys861Asn K861N not reviewed Insufficiently evaluated not reviewed unknown Array rs1209750 5575 9374 0.59473 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD30A Val912Ile V912I not reviewed Insufficiently evaluated not reviewed unknown Array rs1200876 1642 9444 0.173867 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANKRD30A Ala918Thr A918T not reviewed Insufficiently evaluated not reviewed unknown Array rs34552277 2659 9454 0.281257 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD30A Arg929Cys R929C not reviewed Insufficiently evaluated not reviewed unknown Array rs1200875 1651 9482 0.174119 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.385 - - 8 Y 0 N - - ANKRD30B Phe477Leu F477L not reviewed Insufficiently evaluated not reviewed unknown Array rs9675365 1693 3234 0.5235 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 1 N - - ANKRD30B Gly494Val G494V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - ANKRD30B Thr736Ala T736A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD30B Val742Gly V742G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKRD30B Gly832Ala G832A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD30B Met974Ile M974I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD30B Thr977Met T977M not reviewed Insufficiently evaluated not reviewed unknown Array rs4090319 1124 3226 0.348419 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKRD30B Thr1052Ala T1052A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD30B His1103Arg H1103R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD30B Val1137Leu V1137L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD30B Pro1210His P1210H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD30B Asn1216Asp N1216D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD30B Asn1345Lys N1345K not reviewed Insufficiently evaluated not reviewed unknown Array rs12386087 1987 2084 0.953455 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD32 Ser288Arg S288R not reviewed Insufficiently evaluated not reviewed unknown Array rs6891545 717 3220 0.222671 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ANKRD32 Gly716Arg G716R not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 6 Y 0 N - - ANKRD33 Tyr140Phe Y140F not reviewed Insufficiently evaluated not reviewed unknown Array rs697636 2844 10758 0.264361 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANKRD33 Tyr5Phe Y5F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -4 - 2 N - - ANKRD33 Gln132Arg Q132R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 0 - 0 N - - ANKRD33 Gln257Arg Q257R not reviewed Insufficiently evaluated not reviewed unknown Array rs34494292 1676 10758 0.155791 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKRD33 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 0 - 1 N - - ANKRD33 Val270Met V270M not reviewed Insufficiently evaluated not reviewed unknown Array 142 10756 0.0132019 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD33 Thr188Asn T188N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - ANKRD33 Thr313Asn T313N not reviewed Insufficiently evaluated not reviewed unknown Array rs12368048 1959 10758 0.182097 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD33 Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD34B Leu156Ser L156S not reviewed Insufficiently evaluated not reviewed unknown Array rs32857 9598 10758 0.892173 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANKRD35 Glu266Asp E266D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.809 - - -2 - 1 N - - ANKRD35 Pro428Ser P428S not reviewed Insufficiently evaluated not reviewed unknown Array rs6670984 4582 10758 0.425916 40 0 56 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ANKRD35 Arg592Gln R592Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41315701 1822 10754 0.169425 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - ANKRD35 Glu661Gln E661Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11579366 5140 10758 0.477784 25 0 35 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - ANKRD36B Asp1099Tyr D1099Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ANKRD36B Arg790His R790H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ANKRD36B Lys741Asn K741N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - ANKRD36B Pro682Gln P682Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 4 Y 0 N - - ANKRD36B Val679Ala V679A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.711 - - 2 - 1 N - - ANKRD36B Val679Met V679M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.567 - - 0 - 1 N - - ANKRD36B Glu670Lys E670K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - ANKRD36B Ile645Met I645M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - -1 - 1 N - - ANKRD36B Arg294Thr R294T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ANKRD36B Thr292Ser T292S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - ANKRD36B Glu264Asp E264D not reviewed Insufficiently evaluated not reviewed unknown Array rs13001728 31 106 0.292453 18 0 25 0 0 - - - - - - - - - - - - - - - - 0.655 - - -2 - 0 N - - ANKRD36B Glu251Gly E251G not reviewed Insufficiently evaluated not reviewed unknown Array rs1839230 22 112 0.196429 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 1 N - - ANKRD36B Ile44Thr I44T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - ANKRD36B Arg29Pro R29P not reviewed Insufficiently evaluated not reviewed unknown Array rs2261700 4 14 0.285714 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ANKRD37 Thr152Ser T152S not reviewed Insufficiently evaluated not reviewed unknown Array rs4317244 805 10754 0.0748559 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKRD40 Asp139Ala D139A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 5 Y 0 N - - ANKRD42 Ala190Val A190V not reviewed Insufficiently evaluated not reviewed unknown Array 232 10758 0.0215653 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD42 Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ANKRD43 Arg124Pro R124P not reviewed Insufficiently evaluated not reviewed unknown Array rs40274 6771 6920 0.978468 8 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ANKRD43 Leu365Pro L365P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 7 Y 1 N - - ANKRD43 Phe545Leu F545L not reviewed Insufficiently evaluated not reviewed unknown Array rs40470 10503 10504 0.999905 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKRD44 Ile69Met I69M not reviewed Insufficiently evaluated not reviewed unknown Array rs35338671 449 10758 0.0417364 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD45 Leu180Ile L180I not reviewed Insufficiently evaluated not reviewed unknown Array rs12059066 2169 10758 0.201617 20 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKRD49 Asp57Glu D57E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD5 Leu324Gln L324Q not reviewed Insufficiently evaluated not reviewed unknown Array rs652633 2966 10758 0.275702 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - ANKRD5 Gly412Glu G412E not reviewed Insufficiently evaluated not reviewed unknown Array rs524625 2826 10748 0.262933 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - ANKRD5 Arg742Gln R742Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6087119 1110 10758 0.103179 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 0 N - - ANKRD50 Leu983Phe L983F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD52 Ser1061Thr S1061T not reviewed Insufficiently evaluated not reviewed unknown Array rs59626664 400 9658 0.0414164 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ANKRD52 Ala136Ser A136S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD53 Ala71Thr A71T not reviewed Insufficiently evaluated not reviewed unknown Array rs57527165 978 10378 0.0942378 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - ANKRD53 Ala105Gly A105G not reviewed Insufficiently evaluated not reviewed unknown Array rs35096506 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.761 - - 1 - 2 - 1 - - ANKRD53 Arg349Leu R349L not reviewed Insufficiently evaluated not reviewed unknown Array 46 3234 0.0142239 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - ANKRD53 His431Leu H431L not reviewed Insufficiently evaluated not reviewed unknown Array rs3796100 574 3202 0.179263 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANKRD53 Arg484Lys R484K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - -3 - 1 N - - ANKRD53 Arg486Trp R486W not reviewed Insufficiently evaluated not reviewed unknown Array rs56204570 31 3234 0.00958565 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ANKRD53 Met500Thr M500T not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ANKRD53 Leu523Pro L523P not reviewed Insufficiently evaluated not reviewed unknown Array rs61732279 582 3234 0.179963 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ANKRD55 Val345Met V345M not reviewed Insufficiently evaluated not reviewed unknown Array rs321776 2203 10758 0.204778 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKRD55 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD56 His581Tyr H581Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - ANKRD56 Pro377Thr P377T not reviewed Insufficiently evaluated not reviewed unknown Array rs2703130 1501 10758 0.139524 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.716 - - 4 Y 0 N - - ANKRD56 Pro291Ala P291A not reviewed Insufficiently evaluated not reviewed unknown Array rs13140552 611 10134 0.0602921 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - ANKRD56 Asp152Gly D152G not reviewed Insufficiently evaluated not reviewed unknown Array rs2703129 1422 7078 0.200904 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ANKRD57 Leu208Val L208V not reviewed Insufficiently evaluated not reviewed unknown Array rs72938294 138 8276 0.0166747 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ANKRD57 Asp367Asn D367N not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - ANKRD57 Ile468Val I468V not reviewed Insufficiently evaluated not reviewed unknown Array 198 10758 0.0184049 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.057 - - -4 - 0 N - - ANKRD58 Thr254Ala T254A not reviewed Insufficiently evaluated not reviewed unknown Array rs12841259 228 8310 0.0274368 12 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANKRD6 Gln122Glu Q122E not reviewed Insufficiently evaluated not reviewed unknown Array rs16881983 329 10200 0.0322549 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 1 - 3 - - ANKRD6 Ile128Val I128V not reviewed Insufficiently evaluated not reviewed unknown Array rs3748085 8211 10244 0.801542 53 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANKRD6 Thr233Met T233M not reviewed Insufficiently evaluated not reviewed unknown Array rs2273238 1142 10126 0.112779 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - ANKRD6 Met458Leu M458L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736690 139 10214 0.0136088 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - ANKRD6 Ala545Thr A545T not reviewed Insufficiently evaluated not reviewed unknown Array rs9362667 5 10094 0.000495343 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - ANKRD6 Pro631Leu P631L not reviewed Insufficiently evaluated not reviewed unknown Array rs61739327 1050 10396 0.101 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ANKRD7 Lys48Asn K48N not reviewed Insufficiently evaluated not reviewed unknown Array rs10487391 102 9578 0.0106494 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.172 - - 1 - 1 - 1 - - ANKS1A Thr473Ala T473A not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ANKS1A Arg578Gly R578G not reviewed Insufficiently evaluated not reviewed unknown Array rs62402705 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 6 Y 0 N - - ANKS1A Leu694Ser L694S not reviewed Insufficiently evaluated not reviewed unknown Array rs820085 10615 10758 0.986708 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANKS1B Ser747Cys S747C not reviewed Insufficiently evaluated not reviewed unknown Array 301 9748 0.0308781 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKS3 Ala593Thr A593T not reviewed Insufficiently evaluated not reviewed unknown Array rs9936675 562 10712 0.0524645 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKS3 Ala404Thr A404T not reviewed Insufficiently evaluated not reviewed unknown Array rs863980 5762 10758 0.535601 40 0 52 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKS3 Met215Arg M215R not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.424 - - 4 Y 1 N - - ANKS6 Val644Ile V644I not reviewed Insufficiently evaluated not reviewed unknown Array rs6415847 9418 9780 0.962986 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANKZF1 Ser137Thr S137T not reviewed Insufficiently evaluated not reviewed unknown Array rs61747682 375 9846 0.0380865 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - ANKZF1 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array rs57075420 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - ANKZF1 Arg370Ile R370I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ANKZF1 Arg665Stop R665X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANKZF1 Pro676Leu P676L not reviewed Insufficiently evaluated not reviewed unknown Array rs2293079 1050 10132 0.103632 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - ANLN Ser65Trp S65W not reviewed Insufficiently evaluated not reviewed unknown Array rs3735400 1243 10758 0.115542 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - ANLN Arg185Lys R185K not reviewed Insufficiently evaluated not reviewed unknown Array rs197367 5774 10758 0.536717 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ANO10 Thr561Met T561M not reviewed Insufficiently evaluated not reviewed unknown Array rs17409162 594 10758 0.0552147 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.601 - - 2 - 0 N - - ANO10 Arg462Gln R462Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3772165 5994 10758 0.557167 42 0 63 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANO10 Leu436Phe L436F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - ANO10 Ser356Gly S356G not reviewed Insufficiently evaluated not reviewed unknown Array rs56389778 731 10758 0.0679494 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANO10 Glu348Gly E348G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANO10 Arg263His R263H not reviewed Insufficiently evaluated not reviewed unknown Array rs41289586 220 10758 0.0204499 7 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ANO2 Ser990Leu S990L not reviewed Insufficiently evaluated not reviewed unknown Array rs74058231 6 10636 0.000564121 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANO2 Val645Ala V645A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANO2 Ser500Ala S500A not reviewed Insufficiently evaluated not reviewed unknown Array rs1860961 1250 10188 0.122693 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ANO2 Pro143Ser P143S not reviewed Insufficiently evaluated not reviewed unknown Array rs3741901 884 10120 0.0873518 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - ANO2 Val108Ala V108A not reviewed Insufficiently evaluated not reviewed unknown Array rs3741903 1602 10228 0.156629 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANO3 Ser870Phe S870F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - ANO4 Gly80Ala G80A not reviewed Insufficiently evaluated not reviewed unknown Array rs34162417 488 10758 0.0453616 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANO5 Arg120Gly R120G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANO5 Arg121Gly R121G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - 6 Y 0 N - - ANO5 Leu321Phe L321F not reviewed Insufficiently evaluated not reviewed unknown Array rs7481951 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO5 Leu322Phe L322F not reviewed Insufficiently evaluated not reviewed unknown Array rs7481951 4805 10756 0.446727 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ANO5 Ser795Leu S795L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANO5 Ser796Leu S796L not reviewed Insufficiently evaluated not reviewed unknown Array rs61910685 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ANO6 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 2 - 10 - - ANO6 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANO6 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array rs2162321 427 10758 0.0396914 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - ANO6 Met710Thr M710T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANO6 Met728Thr M728T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740396 161 10758 0.0149656 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 2 N - - ANO6 Met868Val M868V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO6 Met886Val M886V not reviewed Insufficiently evaluated not reviewed unknown Array rs59243955 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ANO6 Val874Leu V874L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO6 Val892Leu V892L not reviewed Insufficiently evaluated not reviewed unknown Array rs60329053 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO7 Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array rs2302054 122 10728 0.0113721 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ANO7 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANO7 Phe250Tyr F250Y not reviewed Insufficiently evaluated not reviewed unknown Array rs60240337 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - ANO7 Val435Glu V435E not reviewed Insufficiently evaluated not reviewed unknown Array rs4675982 28 10708 0.00261487 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 5 Y 3 - 2 - - ANO7 Ala494Val A494V not reviewed Insufficiently evaluated not reviewed unknown Array rs57677160 2270 10758 0.211006 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANO7 Ile740Leu I740L not reviewed Insufficiently evaluated not reviewed unknown Array 621 10710 0.0579832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.817 - - -2 - 0 N - - ANO7 Ala759Thr A759T not reviewed Insufficiently evaluated not reviewed unknown Array 1414 10694 0.132224 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.173 - - 1 - 0 N - - ANO7 Glu912Lys E912K not reviewed Insufficiently evaluated not reviewed unknown Array rs7590653 2281 10758 0.212028 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANO8 Leu607Phe L607F not reviewed Insufficiently evaluated not reviewed unknown Array rs73511896 79 10252 0.00770581 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO8 Gly580Arg G580R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANO9 Thr604Ala T604A not reviewed Insufficiently evaluated not reviewed unknown Array 256 10752 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 1 - 0 N - - ANO9 Cys399Arg C399R not reviewed Insufficiently evaluated not reviewed unknown Array rs10794323 9114 10728 0.849553 53 0 96 0 0 - - - - - - - - - - - - - - - - 0.175 - - 8 Y 0 N - - ANO9 Ile391Val I391V not reviewed Insufficiently evaluated not reviewed unknown Array rs10794324 8950 10728 0.834265 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANO9 Val202Leu V202L not reviewed Insufficiently evaluated not reviewed unknown Array 398 10688 0.037238 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - ANO9 Arg159His R159H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - ANO9 His103Asn H103N not reviewed Insufficiently evaluated not reviewed unknown Array 165 10756 0.0153403 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO9 Phe93Leu F93L not reviewed Insufficiently evaluated not reviewed unknown Array rs7395065 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANO9 Ala51Val A51V not reviewed Insufficiently evaluated not reviewed unknown Array rs12575508 2144 10570 0.202838 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANP32B Asp181Ala D181A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANP32B Asp250Asn D250N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANP32C Glu204Gly E204G not reviewed Insufficiently evaluated not reviewed unknown Array rs2288676 9 128 0.0703125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANP32C Glu189Asp E189D not reviewed Insufficiently evaluated not reviewed unknown Array rs72987721 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANP32C Glu188Lys E188K not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANP32C Lys112Arg K112R not reviewed Insufficiently evaluated not reviewed unknown Array rs72987723 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 1 - 1 - - ANP32C Leu105Pro L105P not reviewed Insufficiently evaluated not reviewed unknown Array rs17008716 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - ANP32C Tyr90Asn Y90N not reviewed Insufficiently evaluated not reviewed unknown Array rs61734694 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANP32C Val72Asp V72D not reviewed Insufficiently evaluated not reviewed unknown Array rs61734695 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.731 - - 8 Y 1 N - - ANP32C Arg71Lys R71K not reviewed Insufficiently evaluated not reviewed unknown Array rs2288675 47 128 0.367188 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.719 - - -3 - 0 N - - ANP32C Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array rs2288674 48 128 0.375 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANP32C Asp18Tyr D18Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 7 Y 2 N - - ANP32D Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array rs7956679 23 128 0.179688 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANP32E Glu145Asp E145D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ANP32E Glu152Asp E152D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ANP32E Glu193Asp E193D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ANPEP Ser752Asn S752N not reviewed Insufficiently evaluated not reviewed unknown Array rs25651 4083 10758 0.379532 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANPEP Ile603Met I603M not reviewed Insufficiently evaluated not reviewed unknown Array rs8192297 1500 10758 0.139431 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ANPEP Ile603Lys I603K not reviewed Insufficiently evaluated not reviewed unknown Array rs17240212 200 10758 0.0185908 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANPEP Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array rs17240268 1067 10758 0.099182 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - ANPEP Arg86Gln R86Q not reviewed Insufficiently evaluated not reviewed unknown Array rs25653 6878 10758 0.639338 46 0 74 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ANTXR1 Arg7Lys R7K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10684 0.00121677 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - ANTXR2 Ala357Pro A357P not reviewed Insufficiently evaluated not reviewed unknown Array rs12647691 6662 9410 0.70797 47 0 77 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 - 1 - - ANUBL1 Thr523Ala T523A not reviewed Insufficiently evaluated not reviewed unknown Array rs34082391 377 10758 0.0350437 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - ANUBL1 Arg462Gln R462Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - ANUBL1 His358Tyr H358Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12267385 294 10758 0.0273285 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 3 - 2 - - ANUBL1 Lys118Thr K118T not reviewed Insufficiently evaluated not reviewed unknown Array rs17854567 1007 10758 0.0936048 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - ANXA1 Arg72Stop R72X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANXA10 Met71Leu M71L not reviewed Insufficiently evaluated not reviewed unknown Array rs6836994 6770 10758 0.629299 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ANXA10 Glu164Lys E164K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.274 - - 0 - 1 N - - ANXA10 Thr193Pro T193P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - 4 Y 1 N - - ANXA11 Ile278Val I278V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ANXA11 Arg230Cys R230C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1049550 3663 10756 0.340554 35 0 44 1 1 - - - - - - - - - - - - - - - Y 1.0 - - 8 Y 2 N - - ANXA11 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229554 485 10758 0.0450827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ANXA13 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294015 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANXA13 Val313Ile V313I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294015 7388 10758 0.686745 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANXA13 Val108Ile V108I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - ANXA13 Val149Ile V149I not reviewed Insufficiently evaluated not reviewed unknown Array rs6995099 776 10758 0.0721324 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANXA13 Arg127His R127H not reviewed Insufficiently evaluated not reviewed unknown Array rs2294013 3163 10758 0.294014 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANXA13 Arg86His R86H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ANXA2 Val116Leu V116L not reviewed Insufficiently evaluated not reviewed unknown Array rs1059688 1020 10752 0.0948661 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANXA2 Val98Leu V98L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANXA3 Arg288Gln R288Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.756 - - 0 - 2 - 2 - - ANXA4 Thr87Met T87M not reviewed Insufficiently evaluated not reviewed unknown Array rs2228203 2438 10758 0.226622 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.192 - - 2 - 0 N - - ANXA4 Ser137Arg S137R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228202 547 10758 0.0508459 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ANXA6 Thr506Met T506M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9844 0.000101584 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 2 N - - ANXA7 Asp455His D455H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANXA7 Asp477His D477H not reviewed Insufficiently evaluated not reviewed unknown Array rs73272348 16 10758 0.00148726 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANXA8 Gln32Lys Q32K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANXA8L1 Gln32Lys Q32K not reviewed Insufficiently evaluated not reviewed unknown Array rs2670516 25 3862 0.00647333 46 0 92 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANXA8L2 Ala177Val A177V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10752 0.00427827 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - ANXA9 Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array rs16832595 121 10758 0.0112474 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.211 - - 1 - 1 N - - ANXA9 Asp166Gly D166G not reviewed Insufficiently evaluated not reviewed unknown Array rs267733 1324 10758 0.123071 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 1 N - - ANXA9 Val259Ala V259A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AOAH Ala266Gly A266G not reviewed Insufficiently evaluated not reviewed unknown Array rs3735386 1094 10758 0.101692 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 1 N - - AOAH Pro254Arg P254R not reviewed Insufficiently evaluated not reviewed unknown Array rs57549546 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - AOAH Pro243Leu P243L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - AOAH Ala166Thr A166T not reviewed Insufficiently evaluated not reviewed unknown Array rs3735384 2 10758 0.000185908 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - AOAH Pro33Ser P33S not reviewed Insufficiently evaluated not reviewed unknown Array rs73346026 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - AOAH Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array rs11976480 2892 10758 0.268823 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - AOC3 His167Tyr H167Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2228470 540 10730 0.0503262 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - AOC3 Ile371Thr I371T not reviewed Insufficiently evaluated not reviewed unknown Array rs35097308 118 10758 0.0109686 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 1 - 6 - - AOC3 Arg426His R426H not reviewed Insufficiently evaluated not reviewed unknown Array rs33986943 783 10758 0.072783 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AOC3 Arg566Gln R566Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.31 - - 0 - 1 N - - AOC3 Gly700Ser G700S not reviewed Insufficiently evaluated not reviewed unknown Array rs477207 193 10758 0.0179401 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AOF1 Gly383Asp G383D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AOX1 Phe257Leu F257L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AOX1 Gln314Arg Q314R not reviewed Insufficiently evaluated not reviewed unknown Array rs58185012 83 10758 0.00771519 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - AOX1 Ala878Ser A878S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AOX1 Asn1135Ser N1135S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs55754655 1871 10758 0.173917 13 0 15 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - AOX1 Trp1151Stop W1151X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AOX1 His1297Arg H1297R not reviewed Insufficiently evaluated not reviewed unknown Array rs3731722 596 10758 0.0554006 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AP1B1 Thr770Ala T770A not reviewed Insufficiently evaluated not reviewed unknown Array rs2857465 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP1B1 Thr777Ala T777A not reviewed Insufficiently evaluated not reviewed unknown Array rs2857465 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AP1G1 Pro685His P685H not reviewed Insufficiently evaluated not reviewed unknown Array rs904763 1864 10758 0.173266 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - AP1G1 Pro688His P688H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AP1G2 Arg760His R760H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - AP1G2 Thr569Ile T569I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10756 0.0026032 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - AP1G2 Ser377Phe S377F not reviewed Insufficiently evaluated not reviewed unknown Array rs12897422 1086 10758 0.100948 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.499 - - 5 Y 0 N - - AP1GBP1 Thr222Ala T222A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP1GBP1 Ala40Gly A40G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP1S3 Ile118Met I118M not reviewed Insufficiently evaluated not reviewed unknown Array 13 9502 0.00136813 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AP2M1 Arg321Stop R321X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AP2M1 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array rs2231224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP3B1 Val585Glu V585E not reviewed Insufficiently evaluated not reviewed unknown Array rs6453373 10025 10758 0.931865 52 0 97 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 5 Y 2 - 1 - - AP3D1 Ile1031Val I1031V not reviewed Insufficiently evaluated not reviewed unknown Array rs25673 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AP3D1 Ile1072Val I1072V not reviewed Insufficiently evaluated not reviewed unknown Array rs25673 1429 10344 0.138148 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AP3D1 Gly450Arg G450R not reviewed Insufficiently evaluated not reviewed unknown Array rs34569645 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AP3D1 Gly541Arg G541R not reviewed Insufficiently evaluated not reviewed unknown Array rs34569645 1433 10672 0.134277 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - AP3S1 Met123Ile M123I not reviewed Insufficiently evaluated not reviewed unknown Array 119 10756 0.0110636 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - AP3S1 Pro158Leu P158L not reviewed Insufficiently evaluated not reviewed unknown Array rs7733604 4217 10756 0.39206 44 0 44 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - AP4B1 Val710Met V710M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - AP4B1 Leu480Ser L480S not reviewed Insufficiently evaluated not reviewed unknown Array rs1217401 4792 10758 0.445436 26 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - AP4E1 Cys163Arg C163R not reviewed Insufficiently evaluated not reviewed unknown Array rs2306331 4735 10758 0.440138 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AP4E1 Tyr362Cys Y362C not reviewed Insufficiently evaluated not reviewed unknown Array rs58909326 196 10758 0.018219 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - 6 Y 0 N - - AP4E1 Val1052Met V1052M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - AP4M1 Arg271His R271H not reviewed Insufficiently evaluated not reviewed unknown Array rs41280968 791 10758 0.0735267 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - APBA1 Ser184Ala S184A not reviewed Insufficiently evaluated not reviewed unknown Array rs34788368 1675 10748 0.155843 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - APBA2 Leu311Pro L311P not reviewed Insufficiently evaluated not reviewed unknown Array rs8040932 3711 10642 0.348713 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - APBA3 Arg541His R541H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - APBA3 Cys376Gly C376G not reviewed Insufficiently evaluated not reviewed unknown Array rs8102086 4 114 0.0350877 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APBA3 Cys376Arg C376R not reviewed Insufficiently evaluated not reviewed unknown Array rs8102086 5371 10752 0.499535 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - APBA3 Val206Gly V206G not reviewed Insufficiently evaluated not reviewed unknown Array rs55941146 421 10670 0.0394564 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - APBA3 Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array 125 10754 0.0116236 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - APBA3 Trp154Leu W154L not reviewed Insufficiently evaluated not reviewed unknown Array rs35932323 325 10744 0.0302494 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - APBB1 Trp462Gly W462G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APBB1 Met327Val M327V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 4 - - APBB1IP Thr404Ala T404A not reviewed Insufficiently evaluated not reviewed unknown Array rs34081356 255 10758 0.0237033 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APBB2 Asn714Ser N714S not reviewed Insufficiently evaluated not reviewed unknown Array 158 9946 0.0158858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APBB2 Leu550Val L550V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APBB2 Gly416Ala G416A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APBB2 Arg179Gln R179Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4861358 6367 9828 0.647843 45 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APBB2 Tyr165His Y165H not reviewed Insufficiently evaluated not reviewed unknown Array 13 9620 0.00135135 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - -1 - 2 N - - APBB3 Cys229Arg C229R not reviewed Insufficiently evaluated not reviewed unknown Array rs250430 9598 10758 0.892173 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - APBB3 Cys231Arg C231R not reviewed Insufficiently evaluated not reviewed unknown Array rs250430 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APBB3 Cys236Arg C236R not reviewed Insufficiently evaluated not reviewed unknown Array rs250430 120 128 0.9375 52 0 98 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - APBB3 Cys238Arg C238R not reviewed Insufficiently evaluated not reviewed unknown Array rs250430 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APC Glu1540Gln E1540Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73220015 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y -2 - 4 N - - APC Val1822Asp V1822D not reviewed Insufficiently evaluated not reviewed unknown Array rs459552 8881 10752 0.825986 55 0 100 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 2 - - APC2 Ala949Thr A949T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735597 294 8776 0.0335005 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 1 - - APC2 Pro1799Leu P1799L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9964 0.00120434 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - APC2 Thr2077Ser T2077S not reviewed Insufficiently evaluated not reviewed unknown Array 108 1274 0.0847724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - APC2 Pro2081Leu P2081L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 7 Y 2 N - - APC2 Ser2241Ala S2241A not reviewed Insufficiently evaluated not reviewed unknown Array rs265277 172 8468 0.0203118 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - APCDD1 Val150Ile V150I not reviewed Insufficiently evaluated not reviewed unknown Array rs3748415 962 10758 0.0894218 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - APCDD1L Tyr80His Y80H not reviewed Insufficiently evaluated not reviewed unknown Array rs7265854 482 10756 0.0448122 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.037 - - -1 - 0 N - - APCDD1L Cys30Arg C30R not reviewed Insufficiently evaluated not reviewed unknown Array rs3946003 4131 10244 0.40326 32 0 44 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - APEX1 Gln51His Q51H not reviewed Insufficiently evaluated not reviewed unknown Array rs1048945 310 10758 0.0288158 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - APEX1 Asp148Glu D148E not reviewed Insufficiently evaluated not reviewed unknown Array rs1130409 4596 10758 0.427217 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - APEX1 Gly241Arg G241R not reviewed Insufficiently evaluated not reviewed unknown Array rs33956927 56 10758 0.00520543 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.95 - - 6 Y 3 - 3 - - APEX2 Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - APH1A Arg252Pro R252P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.62 - - 5 Y 1 N - - APH1A Cys245Trp C245W not reviewed Insufficiently evaluated not reviewed unknown Array 60 10074 0.00595593 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - APH1B Thr27Ala T27A not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - APH1B Phe176Leu F176L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APH1B Phe217Leu F217L not reviewed Insufficiently evaluated not reviewed unknown Array rs1047552 424 10758 0.0394125 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 2 N - - API5 Lys106Gln K106Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - API5 Lys160Gln K160Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73547384 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.221 - - -2 - 1 N - - APIP Cys76Tyr C76Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1977420 3617 10754 0.33634 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.197 - - 6 Y 0 N - - APIP Asp20Asn D20N not reviewed Insufficiently evaluated not reviewed unknown Array rs61734605 2707 10758 0.251627 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - APIP Arg7Trp R7W not reviewed Insufficiently evaluated not reviewed unknown Array rs2956114 3327 10742 0.309719 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.018 - - 7 Y 0 N - - APLF Ile100Val I100V not reviewed Insufficiently evaluated not reviewed unknown Array rs11902811 1964 10758 0.182562 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - APLF Ser224Thr S224T not reviewed Insufficiently evaluated not reviewed unknown Array rs35002937 2963 10758 0.275423 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - APLF Leu336Phe L336F not reviewed Insufficiently evaluated not reviewed unknown Array rs13404469 1115 10758 0.103644 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APLF Ser426Pro S426P not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - APLF Gln433Lys Q433K not reviewed Insufficiently evaluated not reviewed unknown Array rs36021078 287 10752 0.0266927 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - APLP2 Gly295Ser G295S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APLP2 Asp391Asn D391N not reviewed Insufficiently evaluated not reviewed unknown Array rs3740881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APLP2 Asp564Asn D564N not reviewed Insufficiently evaluated not reviewed unknown Array rs3740881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APLP2 Asp620Asn D620N not reviewed Insufficiently evaluated not reviewed unknown Array rs3740881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APLP2 Asp632Asn D632N not reviewed Insufficiently evaluated not reviewed unknown Array rs3740881 627 10758 0.0582822 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - APOA1BP Val19Leu V19L not reviewed Insufficiently evaluated not reviewed unknown Array rs7516274 9729 10288 0.945665 25 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOA4 Thr367Ser T367S not reviewed Insufficiently evaluated not reviewed unknown Array rs675 1819 10752 0.169178 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - APOA4 Ser147Asn S147N not reviewed Insufficiently evaluated not reviewed unknown Array rs5104 9432 10756 0.876906 43 0 69 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOA5 Pro215Leu P215L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10368 0.000482253 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - APOA5 Gly185Cys G185C pathogenic Insufficiently evaluated pathogenic unknown Array 11 10756 0.00102268 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.61 - - 7 Y 3 N 10 - - APOA5 Ser19Trp S19W pathogenic Low clinical importance, Likely pathogenic unknown Array rs3135506 695 10756 0.0646151 4 0 4 5 5 2 Y 0 - 4 Y 0 - 3 Y 3 - - Y - Y 0.778 - - 7 Y 2 N 0 1 This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found. APOB Thr4484Met T4484M not reviewed Insufficiently evaluated not reviewed unknown Array rs12713450 420 10758 0.0390407 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - APOB Gln4368Glu Q4368E not reviewed Insufficiently evaluated not reviewed unknown Array 10 10752 0.000930059 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - APOB Ser4338Asn S4338N not reviewed Insufficiently evaluated not reviewed unknown Array rs1042034 8611 10738 0.801918 50 0 87 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - APOB Ile4314Val I4314V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10756 0.00697285 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - APOB Arg4270Thr R4270T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801702 530 10758 0.0492657 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - APOB Val4265Ala V4265A not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - APOB Ser4233Thr S4233T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743299 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - APOB Glu4181Lys E4181K not reviewed Insufficiently evaluated not reviewed unknown Array rs1042031 1793 10758 0.166667 15 0 18 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - APOB Arg3638Gln R3638Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1801701 689 10758 0.0640454 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - APOB Ser3294Pro S3294P not reviewed Insufficiently evaluated not reviewed unknown Array rs12720855 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - APOB Asn2785His N2785H not reviewed Insufficiently evaluated not reviewed unknown Array rs2163204 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - APOB Pro2739Leu P2739L not reviewed Insufficiently evaluated not reviewed unknown Array rs676210 2124 10758 0.197434 18 0 23 0 0 2 Y - - - - - - - - - - Y - - - - Y - 7 Y 2 - 5 - - APOB Ala2456Asp A2456D not reviewed Insufficiently evaluated not reviewed unknown Array rs12713675 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - APOB Ile2313Val I2313V not reviewed Insufficiently evaluated not reviewed unknown Array rs584542 10553 10758 0.980944 35 0 62 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - APOB Ala2114Pro A2114P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - APOB Ala2113Val A2113V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - APOB Glu2079Asp E2079D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - APOB His1923Arg H1923R not reviewed Insufficiently evaluated not reviewed unknown Array rs533617 298 10758 0.0277003 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - APOB Tyr1422Cys Y1422C benign Low clinical importance, Uncertain benign unknown Array rs568413 10744 10748 0.999628 56 0 112 0 0 5 Y 0 - 5 Y 0 - - - - - Y - - - - Y - 6 Y 2 - 1 0 0 This position is almost certainly an error in the HG18 reference sequence. APOB Leu1238Ile L1238I not reviewed Insufficiently evaluated not reviewed unknown Array rs72653078 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - APOB Leu1212Met L1212M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736761 319 10758 0.0296524 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - APOB Ser1203Gly S1203G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - APOB Arg1128Cys R1128C not reviewed Insufficiently evaluated not reviewed unknown Array rs72653076 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - APOB Pro994Leu P994L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - APOB Ala618Val A618V not reviewed Insufficiently evaluated not reviewed unknown Array rs679899 3942 10758 0.366425 26 0 43 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 3 - - APOB Arg532Trp R532W not reviewed Insufficiently evaluated not reviewed unknown Array rs13306194 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - APOB Asn295Thr N295T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - APOB Pro145Ser P145S not reviewed Insufficiently evaluated not reviewed unknown Array rs6752026 426 10758 0.0395984 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - APOB Thr98Ile T98I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1367117 2653 10758 0.246607 15 0 16 2 2 - - - - - - - - - - - - Y - - Y - Y - 3 - 3 N 2 - - Irbestartan more effective than atenolol in lowering blood pressure. APOB48R Gly298Glu G298E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOB48R Pro419Ala P419A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOB48R Val776Ala V776A not reviewed Insufficiently evaluated not reviewed unknown Array rs40832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOB48R Glu835Lys E835K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - APOBEC1 Arg236Lys R236K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 3 - 3 - - APOBEC1 Pro108Ser P108S not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - APOBEC1 Met80Ile M80I not reviewed Insufficiently evaluated not reviewed unknown Array rs2302515 8377 10758 0.778676 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - APOBEC2 Ala8Thr A8T not reviewed Insufficiently evaluated not reviewed unknown Array rs41273358 120 10754 0.0111586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOBEC2 Thr120Asn T120N not reviewed Insufficiently evaluated not reviewed unknown Array rs41273362 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - APOBEC2 Ile136Thr I136T not reviewed Insufficiently evaluated not reviewed unknown Array rs2076472 1556 10758 0.144637 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - APOBEC3B Lys62Glu K62E not reviewed Insufficiently evaluated not reviewed unknown Array rs2076109 6512 10716 0.607689 33 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOBEC3B Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array rs2076110 1063 10750 0.0988837 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.093 - - 7 Y 0 N - - APOBEC3B Thr146Lys T146K not reviewed Insufficiently evaluated not reviewed unknown Array rs5995649 10195 10710 0.951914 42 0 79 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOBEC3C Gly134Glu G134E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - APOBEC3D Arg248Lys R248K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOBEC3F Asp50Glu D50E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 3 - 1 - - APOBEC3F Ala78Val A78V not reviewed Insufficiently evaluated not reviewed unknown Array rs5750728 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOBEC3F Ala108Ser A108S not reviewed Insufficiently evaluated not reviewed unknown Array rs2020390 4675 10746 0.435046 26 0 37 0 0 - - - - - - - - - - - - - - - - 0.773 - - -1 - 0 N - - APOBEC3F Val231Ile V231I not reviewed Insufficiently evaluated not reviewed unknown Array rs2076101 4672 10758 0.434281 29 0 41 0 0 - - - - - - - - - - - - - - - - 0.839 - - -4 - 0 N - - APOBEC3G His186Arg H186R not reviewed Insufficiently evaluated not reviewed unknown Array rs8177832 1566 10758 0.145566 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.393 - - 1 - 0 N - - APOBEC3G Gln275Glu Q275E not reviewed Insufficiently evaluated not reviewed unknown Array rs17496046 980 10758 0.091095 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 1 N - - APOBEC3H Arg18Leu R18L not reviewed Insufficiently evaluated not reviewed unknown Array rs139293 2208 10758 0.205243 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - APOBEC3H Gly105Arg G105R not reviewed Insufficiently evaluated not reviewed unknown Array rs139297 6226 10758 0.578732 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - APOBEC3H Lys121Glu K121E not reviewed Insufficiently evaluated not reviewed unknown Array rs139298 6158 10758 0.572411 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOBEC3H Lys121Asn K121N not reviewed Insufficiently evaluated not reviewed unknown Array rs139299 6174 10758 0.573898 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - APOBEC3H Glu178Asp E178D not reviewed Insufficiently evaluated not reviewed unknown Array rs139302 6127 10758 0.56953 39 0 60 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - APOBEC4 Val345Met V345M not reviewed Insufficiently evaluated not reviewed unknown Array rs10911390 754 10758 0.0700874 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - APOBEC4 Lys331Glu K331E not reviewed Insufficiently evaluated not reviewed unknown Array rs1174657 4502 10758 0.418479 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - APOBEC4 Pro275Ser P275S not reviewed Insufficiently evaluated not reviewed unknown Array rs10911391 754 10758 0.0700874 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOBEC4 Phe271Ser F271S not reviewed Insufficiently evaluated not reviewed unknown Array rs1174658 4502 10758 0.418479 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - APOBEC4 Ser75Phe S75F not reviewed Insufficiently evaluated not reviewed unknown Array rs16861394 753 10758 0.0699944 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 1 N - - APOC2 Glu60Lys E60K not reviewed Insufficiently evaluated not reviewed unknown Array rs5122 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 2 - 1 - - APOC2 Lys77Gln K77Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5126 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.975 Y - -2 - 4 - 3 - - APOC4 Val18Met V18M not reviewed Insufficiently evaluated not reviewed unknown Array rs13306210 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - APOC4 Leu36Pro L36P not reviewed Insufficiently evaluated not reviewed unknown Array rs1132899 6258 10756 0.581815 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - APOC4 Leu96Arg L96R not reviewed Insufficiently evaluated not reviewed unknown Array rs5167 4228 10758 0.39301 30 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - APOE Cys130Arg C130R pathogenic High clinical importance, pathogenic other Array rs429358 1381 10200 0.135392 7 0 7 4 4 0 Y 3 Y 5 Y - - 4 Y 2 Y Y - - Y 0.002 Y - 8 Y 3 N 9 2 2 This is generally known as the ApoE4 allele of ApoE and is associated with increased risk of Alzheimer's. 20-25% of individuals are heterozygous for this variant, and 1-2% are homozygous. Data from Khachaturian et al. suggests an average 7% of all individuals developed Alzheimer's by the age of 80; when this is split by ApoE4 status: 10% of ApoE4 heterozygotes (3% increased attributable risk), 40% of ApoE4 homozygotes (33% increased attributable risk), and 5% of non-carriers (2% decreased attributable risk). Notably, their model suggests 70-75% of people would eventually develop Alzheimer's by the age of 100 regardless of ApoE4 genotype (and 25-30% are resistant, regardless of genotype), but that ApoE4 variants shift the disease onset to occur significantly earlier (4 years earlier for heterozygous carriers, 13 years for homozygotes). APOE Arg163Cys R163C not reviewed Insufficiently evaluated not reviewed unknown Array rs769455 49 9548 0.00513196 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 4 - 2 - - APOE Arg176Cys R176C pharmacogenetic Insufficiently evaluated pharmacogenetic other Array rs7412 547 8056 0.0678997 8 0 8 7 6 - - - - - - - - - - - - Y - - Y 1.0 Y - 8 Y 4 N 10 - - This is generally known as the ApoE2 variant of ApoE and is associated with a decreased risk of Alzheimer's disease. APOF Ile311Thr I311T not reviewed Insufficiently evaluated not reviewed unknown Array rs4301822 1631 9604 0.169825 22 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOH Trp335Ser W335S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801690 398 10758 0.0369957 5 0 6 1 1 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - APOH Cys325Gly C325G not reviewed Insufficiently evaluated not reviewed unknown Array rs1801689 315 10758 0.0292805 1 0 1 1 1 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 3 - 8 - - APOH Val266Leu V266L not reviewed Insufficiently evaluated not reviewed unknown Array rs4581 3515 10758 0.326734 38 0 51 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - APOH Arg154His R154H not reviewed Insufficiently evaluated not reviewed unknown Array rs8178847 803 10758 0.0746421 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - APOH Ile141Thr I141T not reviewed Insufficiently evaluated not reviewed unknown Array rs52797880 803 10758 0.0746421 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOL1 Glu132Lys E132K not reviewed Insufficiently evaluated not reviewed unknown Array rs2239785 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL1 Glu150Lys E150K not reviewed Insufficiently evaluated not reviewed unknown Array rs2239785 7009 10758 0.651515 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOL1 Glu166Lys E166K not reviewed Insufficiently evaluated not reviewed unknown Array rs2239785 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL1 Met210Ile M210I not reviewed Insufficiently evaluated not reviewed unknown Array rs136175 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL1 Met228Ile M228I not reviewed Insufficiently evaluated not reviewed unknown Array rs136175 9113 10758 0.847091 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - APOL1 Met244Ile M244I not reviewed Insufficiently evaluated not reviewed unknown Array rs136175 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL1 Arg237Lys R237K not reviewed Insufficiently evaluated not reviewed unknown Array rs136176 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOL1 Arg255Lys R255K not reviewed Insufficiently evaluated not reviewed unknown Array rs136176 9135 10758 0.849136 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - APOL1 Arg271Lys R271K not reviewed Insufficiently evaluated not reviewed unknown Array rs136176 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOL1 Asn246Lys N246K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL1 Asn264Lys N264K not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL1 Asn280Lys N280K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL1 Gly252Asp G252D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOL1 Gly270Asp G270D not reviewed Insufficiently evaluated not reviewed unknown Array rs73403889 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOL1 Gly286Asp G286D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOL1 Asp319Asn D319N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL1 Asp337Asn D337N not reviewed Insufficiently evaluated not reviewed unknown Array rs16996616 326 10758 0.030303 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL1 Asp353Asn D353N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL1 Ser324Gly S324G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOL1 Ser342Gly S342G not reviewed Insufficiently evaluated not reviewed unknown Array rs73885319 821 10758 0.0763153 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - APOL1 Ser358Gly S358G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOL1 Ile366Met I366M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL1 Ile384Met I384M not reviewed Insufficiently evaluated not reviewed unknown Array rs60910145 808 10756 0.0751209 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - APOL1 Ile400Met I400M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL2 Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10616 0.00178975 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - APOL2 Ile245Val I245V not reviewed Insufficiently evaluated not reviewed unknown Array rs132760 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - APOL2 Arg182Cys R182C not reviewed Insufficiently evaluated not reviewed unknown Array rs7285167 1470 10320 0.142442 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 1 N - - APOL3 Val161Met V161M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL3 Val232Met V232M not reviewed Insufficiently evaluated not reviewed unknown Array rs61741884 485 10758 0.0450827 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.126 - - 0 - 0 N - - APOL3 Val32Met V32M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL3 Ala135Val A135V not reviewed Insufficiently evaluated not reviewed unknown Array rs6000152 266 10758 0.0247258 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - APOL3 Ala64Val A64V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOL3 Arg71Gly R71G not reviewed Insufficiently evaluated not reviewed unknown Array 288 10758 0.0267708 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOL3 Gln58Stop Q58X not reviewed Insufficiently evaluated not reviewed unknown Array rs11089781 801 10758 0.0744562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - APOL3 Ser39Arg S39R not reviewed Insufficiently evaluated not reviewed unknown Array rs132653 7693 10758 0.715096 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOL4 Cys297Arg C297R not reviewed Insufficiently evaluated not reviewed unknown Array rs6000174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APOL4 Cys300Arg C300R not reviewed Insufficiently evaluated not reviewed unknown Array rs6000174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APOL4 Phe228Leu F228L not reviewed Insufficiently evaluated not reviewed unknown Array rs2227167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL4 Phe231Leu F231L not reviewed Insufficiently evaluated not reviewed unknown Array rs2227167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL4 His193Pro H193P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOL4 His196Pro H196P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOL4 Gly181Ser G181S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOL4 Gly184Ser G184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOL4 Tyr155Cys Y155C not reviewed Insufficiently evaluated not reviewed unknown Array rs132700 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOL4 Tyr158Cys Y158C not reviewed Insufficiently evaluated not reviewed unknown Array rs132700 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOL4 Val12Leu V12L not reviewed Insufficiently evaluated not reviewed unknown Array rs80587 5122 10758 0.476111 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOL4 Ile9Val I9V not reviewed Insufficiently evaluated not reviewed unknown Array rs132736 5124 10758 0.476297 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - APOL4 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs6000181 885 10758 0.0822644 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - APOL5 Thr129Asn T129N not reviewed Insufficiently evaluated not reviewed unknown Array rs73411940 20 10758 0.00185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - APOL5 Ser203Arg S203R not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - 3 - 1 N - - APOL5 Thr272Met T272M not reviewed Insufficiently evaluated not reviewed unknown Array rs2076671 3347 10758 0.311117 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.183 - - 2 - 0 N - - APOL5 Thr323Met T323M not reviewed Insufficiently evaluated not reviewed unknown Array rs2076672 2317 10758 0.215375 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.183 - - 2 - 0 N - - APOL5 Ser406Cys S406C not reviewed Insufficiently evaluated not reviewed unknown Array rs2076673 3010 10758 0.279792 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOL6 Asn173Lys N173K not reviewed Insufficiently evaluated not reviewed unknown Array rs5999923 293 10758 0.0272355 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - APOO Leu166Val L166V not reviewed Insufficiently evaluated not reviewed unknown Array 211 8761 0.024084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - APP Arg512His R512H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - APP Arg568His R568H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - APP Arg587His R587H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - APP Arg624His R624H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - APP Arg643His R643H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 5 - 1 - - APPBP2 Ser561Asn S561N not reviewed Insufficiently evaluated not reviewed unknown Array rs34146848 1506 10758 0.139989 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APPL1 Gly319Arg G319R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 6 Y 3 - 5 - - APPL2 Ala433Val A433V not reviewed Insufficiently evaluated not reviewed unknown Array rs2272495 1788 10756 0.166233 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - APRT Val126Met V126M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.267 Y - 0 - 3 - 1 - - APTX Lys153Glu K153E not reviewed Insufficiently evaluated not reviewed unknown Array rs34634937 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - APTX Lys167Glu K167E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - APTX Lys65Glu K65E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AQP1 Ala45Val A45V pharmacogenetic Low clinical importance, Uncertain pharmacogenetic other Array rs28362692 2 128 0.015625 2 0 2 1 1 - - 2 Y 0 Y - - 3 Y 4 Y - Y - - - - - 2 - 3 N 0 0 Colton blood group polymorphism Co(b). This antigen system can sometimes be responsible for mild or moderate hemolytic transfusion reactions. AQP1 Asp158Asn D158N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - AQP1 Gly165Asp G165D not reviewed Insufficiently evaluated not reviewed unknown Array rs28362731 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - AQP10 Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6668968 3089 10758 0.287135 34 0 38 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - AQP10 His123Tyr H123Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6685323 3246 10758 0.301729 33 0 36 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AQP11 Gly102Ser G102S not reviewed Insufficiently evaluated not reviewed unknown Array rs2276415 1176 10758 0.109314 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.845 - - 2 - 0 N - - AQP12A Leu28Arg L28R not reviewed Insufficiently evaluated not reviewed unknown Array 2941 10682 0.275323 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 6 Y 0 N - - AQP12B Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 1909 10702 0.178378 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AQP12B Ala44Val A44V not reviewed Insufficiently evaluated not reviewed unknown Array rs73117922 336 10748 0.0312616 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AQP12B Arg23Gln R23Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4081909 1451 10700 0.135607 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.556 - - 0 - 0 N - - AQP12B Thr16Ala T16A not reviewed Insufficiently evaluated not reviewed unknown Array rs4081908 7880 10618 0.742136 15 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AQP4 Asp162Glu D162E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AQP4 Asp184Glu D184E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731038 128 10758 0.0118981 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - AQP6 Met195Thr M195T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - AQP6 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array rs17124220 290 10758 0.0269567 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AQP7 Pro329Ser P329S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AQP7 Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array rs61073250 444 10758 0.0412716 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - AQP7 Asn249Asp N249D not reviewed Insufficiently evaluated not reviewed unknown Array 679 10750 0.0631628 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AQP7 Trp242Cys W242C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AQP7 Glu202Gln E202Q not reviewed Insufficiently evaluated not reviewed unknown Array 2359 10758 0.219279 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AQP7 Asn194Lys N194K not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 1 - - AQP7 Gln192Arg Q192R not reviewed Insufficiently evaluated not reviewed unknown Array 511 10758 0.0474995 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - AQP7 Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array 2365 10758 0.219836 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AQP7 Gly180Arg G180R not reviewed Insufficiently evaluated not reviewed unknown Array 1276 10758 0.118609 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AQP7 Ala176Glu A176E not reviewed Insufficiently evaluated not reviewed unknown Array rs62542746 3983 10754 0.370374 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AQP7 Lys63Thr K63T not reviewed Insufficiently evaluated not reviewed unknown Array rs4008658 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AQP8 Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733055 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - AQP8 Ala260Pro A260P not reviewed Insufficiently evaluated not reviewed unknown Array rs2287798 4160 10758 0.386689 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AQP9 Met170Val M170V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AQP9 Thr279Ala T279A not reviewed Insufficiently evaluated not reviewed unknown Array rs1867380 9715 10758 0.903049 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AQR Pro1468Leu P1468L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741130 645 10124 0.06371 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AR Leu57Gln L57Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 9 - - ARAP1 Val1091Met V1091M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ARAP1 Val1163Met V1163M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ARAP1 Val1408Met V1408M not reviewed Insufficiently evaluated not reviewed unknown Array rs2291288 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ARAP1 Gln1047Glu Q1047E not reviewed Insufficiently evaluated not reviewed unknown Array rs56200889 2489 10740 0.23175 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.294 - - -2 - 0 N - - ARAP1 Gln741Glu Q741E not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARAP1 Gln802Glu Q802E not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARAP1 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ARAP1 Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34976830 239 10758 0.022216 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 3 - 3 - - ARAP2 Arg1523Gln R1523Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4833069 10677 10758 0.992471 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARAP2 Glu1108Gln E1108Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - ARAP2 Val484Phe V484F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.37 - - 3 - 1 N - - ARAP2 Val446Ile V446I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ARAP2 Pro89Leu P89L not reviewed Insufficiently evaluated not reviewed unknown Array rs35822395 115 10758 0.0106897 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARAP3 Thr1428Pro T1428P not reviewed Insufficiently evaluated not reviewed unknown Array 595 10758 0.0553077 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 1 - - ARAP3 Asp218His D218H not reviewed Insufficiently evaluated not reviewed unknown Array rs1031904 970 10758 0.0901655 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - ARCN1 Asp302Gly D302G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARCN1 Asp390Gly D390G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - AREG Tyr81Cys Y81C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10540 0.0016129 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 2 N - - ARFGAP2 Ser411Asn S411N not reviewed Insufficiently evaluated not reviewed unknown Array rs3740691 4543 10758 0.42229 40 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARFGAP2 Arg339Leu R339L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.876 - - 6 Y 3 - 2 - - ARFGAP3 Met387Thr M387T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARFGAP3 Met431Thr M431T not reviewed Insufficiently evaluated not reviewed unknown Array rs73176813 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ARFGAP3 Ser311Arg S311R not reviewed Insufficiently evaluated not reviewed unknown Array rs1018448 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARFGAP3 Ser355Arg S355R not reviewed Insufficiently evaluated not reviewed unknown Array rs1018448 7075 10758 0.65765 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARFGAP3 Ser187Gly S187G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARFGAP3 Ser231Gly S231G not reviewed Insufficiently evaluated not reviewed unknown Array rs9607957 348 10758 0.032348 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARFGAP3 Gly182Val G182V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARFGAP3 Gly226Val G226V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - ARFGEF1 Tyr314Cys Y314C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARFGEF2 Pro57Ser P57S not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 2 N - - ARFGEF2 Ile432Val I432V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - ARFIP1 Asn142Ser N142S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARFIP1 Asn174Ser N174S not reviewed Insufficiently evaluated not reviewed unknown Array rs73865263 120 10758 0.0111545 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.825 - - 0 - 1 N - - ARG1 Ser62Asn S62N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ARG1 Leu318Pro L318P not reviewed Insufficiently evaluated not reviewed unknown Array rs73544627 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 7 Y 2 N - - ARG2 Gly240Arg G240R not reviewed Insufficiently evaluated not reviewed unknown Array rs17104534 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.085 - - 6 Y 1 - 6 - - ARGFX Arg145Gln R145Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9813391 2492 10758 0.231642 17 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ARHGAP10 His62Tyr H62Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - ARHGAP10 Met684Val M684V not reviewed Insufficiently evaluated not reviewed unknown Array rs2276932 523 10758 0.048615 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - ARHGAP11A Asp78Glu D78E not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP11A Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGAP11A Thr329Ala T329A not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP11A Val410Ile V410I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733064 75 10756 0.00697285 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.325 - - -4 - 2 - 1 - - ARHGAP12 Phe442Ser F442S not reviewed Insufficiently evaluated not reviewed unknown Array rs2808096 1809 10758 0.168154 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ARHGAP18 Thr23Ala T23A not reviewed Insufficiently evaluated not reviewed unknown Array rs3752536 9072 10758 0.843279 57 0 98 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ARHGAP19 Pro471Gln P471Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.773 - - 4 Y 1 N - - ARHGAP19 His367Tyr H367Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34038589 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.739 - - -1 - 1 N - - ARHGAP19 Asp258Ala D258A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - ARHGAP19 Lys256Asn K256N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - ARHGAP19 Thr253Pro T253P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ARHGAP20 Pro1103Ala P1103A not reviewed Insufficiently evaluated not reviewed unknown Array rs73553932 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP20 Gln650Pro Q650P not reviewed Insufficiently evaluated not reviewed unknown Array rs34417210 225 10758 0.0209147 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ARHGAP20 Ala522Thr A522T not reviewed Insufficiently evaluated not reviewed unknown Array rs7936020 490 10758 0.0455475 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP20 Met151Val M151V not reviewed Insufficiently evaluated not reviewed unknown Array rs73553992 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - 0 - 1 N - - ARHGAP21 Ser1950Thr S1950T not reviewed Insufficiently evaluated not reviewed unknown Array rs1127893 5292 10758 0.491913 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ARHGAP21 Thr1144Ser T1144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP21 Asn713Ser N713S not reviewed Insufficiently evaluated not reviewed unknown Array rs3748222 5467 10758 0.50818 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGAP22 Thr410Lys T410K not reviewed Insufficiently evaluated not reviewed unknown Array rs1867586 318 10462 0.0303957 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - ARHGAP22 Arg28Trp R28W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ARHGAP23 Pro552Thr P552T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGAP23 Asp594Asn D594N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGAP24 Arg5Leu R5L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP25 Gly503Ala G503A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP25 Gly510Ala G510A not reviewed Insufficiently evaluated not reviewed unknown Array rs72903633 75 10758 0.00697156 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP25 Arg548Ser R548S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP25 Arg555Ser R555S not reviewed Insufficiently evaluated not reviewed unknown Array rs4241344 1987 10756 0.184734 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARHGAP25 Met549Thr M549T not reviewed Insufficiently evaluated not reviewed unknown Array rs10177248 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP25 Met556Thr M556T not reviewed Insufficiently evaluated not reviewed unknown Array rs10177248 3586 10756 0.333395 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARHGAP27 Gly118Val G118V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP27 Gly91Val G91V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP28 Thr31Ser T31S not reviewed Insufficiently evaluated not reviewed unknown Array rs6506448 52 10758 0.00483361 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP28 Ile406Val I406V not reviewed Insufficiently evaluated not reviewed unknown Array rs73386355 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGAP28 Gln568Pro Q568P not reviewed Insufficiently evaluated not reviewed unknown Array rs1056408 9001 10758 0.83668 55 0 84 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ARHGAP29 Gly1255Asp G1255D not reviewed Insufficiently evaluated not reviewed unknown Array rs1999272 10151 10758 0.943577 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ARHGAP29 Val875Ile V875I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - -4 - 1 N - - ARHGAP30 Arg1017Gln R1017Q not reviewed Insufficiently evaluated not reviewed unknown Array 215 10758 0.0199851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ARHGAP30 Arg806Gln R806Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP30 Leu591Val L591V not reviewed Insufficiently evaluated not reviewed unknown Array rs3813609 5282 10758 0.490983 37 0 46 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ARHGAP30 Gly400Val G400V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 8 Y 1 N - - ARHGAP30 Arg393Gln R393Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.787 - - 0 - 1 N - - ARHGAP30 Ser255Arg S255R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ARHGAP4 Ala933Val A933V not reviewed Insufficiently evaluated not reviewed unknown Array rs58410072 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP4 Leu588Val L588V not reviewed Insufficiently evaluated not reviewed unknown Array 32 8691 0.00368197 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ARHGAP4 Gly506Glu G506E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.245 - - 6 Y 2 - 1 - - ARHGAP4 Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array rs5987182 276 8415 0.0327986 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ARHGAP5 Glu489Lys E489K not reviewed Insufficiently evaluated not reviewed unknown Array 216 10754 0.0200855 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - ARHGAP6 Glu715Asp E715D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP6 Glu918Asp E918D not reviewed Insufficiently evaluated not reviewed unknown Array 62 8729 0.00710276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - ARHGAP6 Asp588Glu D588E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP6 Asp791Glu D791E not reviewed Insufficiently evaluated not reviewed unknown Array rs1009758 1761 8487 0.207494 22 0 35 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ARHGAP8 Pro176Leu P176L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP8 Pro207Leu P207L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP8 Gly302Arg G302R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP8 Gly333Arg G333R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP8 Arg304Leu R304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP8 Arg335Leu R335L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP8 Arg319Cys R319C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP8 Arg350Cys R350C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP8 Pro384Leu P384L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP8 Pro415Leu P415L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP8 Pro387Arg P387R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP8 Pro418Arg P418R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP9 Ser186Ala S186A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.175 - - -1 - 0 N - - ARHGAP9 Ser370Ala S370A not reviewed Insufficiently evaluated not reviewed unknown Array rs11544238 5243 10758 0.487358 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ARHGAP9 Asp60Asn D60N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.734 - - -1 - 1 N - - ARHGAP9 Arg50Gly R50G not reviewed Insufficiently evaluated not reviewed unknown Array rs33927108 522 10758 0.048522 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - ARHGDIG Asp225Gly D225G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - ARHGEF10 Leu370Phe L370F not reviewed Insufficiently evaluated not reviewed unknown Array rs9657362 1151 10758 0.10699 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF10 Thr919Pro T919P not reviewed Insufficiently evaluated not reviewed unknown Array rs35354057 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - ARHGEF10 Ser984Ala S984A not reviewed Insufficiently evaluated not reviewed unknown Array rs17683288 554 10758 0.0514966 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ARHGEF10 Pro1325Ser P1325S not reviewed Insufficiently evaluated not reviewed unknown Array rs35095003 93 10622 0.00875541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - ARHGEF10L Asp69Asn D69N not reviewed Insufficiently evaluated not reviewed unknown Array rs35497285 612 10758 0.0568879 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 0 N - - ARHGEF10L Asp237Val D237V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF10L Asp276Val D276V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 8 Y 0 N - - ARHGEF10L Trp952Arg W952R not reviewed Insufficiently evaluated not reviewed unknown Array rs6695710 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGEF10L Trp991Arg W991R not reviewed Insufficiently evaluated not reviewed unknown Array rs6695710 10753 10756 0.999721 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ARHGEF10L Ala1142Gly A1142G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF10L Ala1181Gly A1181G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ARHGEF10L Ile1180Val I1180V not reviewed Insufficiently evaluated not reviewed unknown Array rs2270976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGEF10L Ile1219Val I1219V not reviewed Insufficiently evaluated not reviewed unknown Array rs2270976 8512 10700 0.795514 24 0 37 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ARHGEF10L Arg1183Cys R1183C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF10L Arg1222Cys R1222C not reviewed Insufficiently evaluated not reviewed unknown Array 31 10670 0.00290534 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - ARHGEF11 His1427Arg H1427R not reviewed Insufficiently evaluated not reviewed unknown Array rs945508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF11 His1467Arg H1467R not reviewed Insufficiently evaluated not reviewed unknown Array rs945508 7008 10758 0.651422 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ARHGEF11 Ser1416Gly S1416G not reviewed Insufficiently evaluated not reviewed unknown Array rs63387061 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF11 Ser1456Gly S1456G not reviewed Insufficiently evaluated not reviewed unknown Array rs868188 3353 10758 0.311675 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARHGEF12 Tyr973Phe Y973F not reviewed Insufficiently evaluated not reviewed unknown Array rs2305013 379 9672 0.0391853 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.613 - - -4 - 1 N - - ARHGEF12 Gln1214Glu Q1214E not reviewed Insufficiently evaluated not reviewed unknown Array rs73584138 55 9826 0.00559739 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - ARHGEF15 Leu277Pro L277P not reviewed Insufficiently evaluated not reviewed unknown Array rs871841 6135 10758 0.570273 46 0 64 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ARHGEF15 Thr789Asn T789N not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF15 Ser831Pro S831P not reviewed Insufficiently evaluated not reviewed unknown Array rs3744647 6992 10758 0.649935 50 0 71 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARHGEF16 Val137Met V137M not reviewed Insufficiently evaluated not reviewed unknown Array rs3806164 161 3228 0.0498761 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ARHGEF16 His370Tyr H370Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2185639 7909 10758 0.735174 40 0 65 0 0 - - - - - - - - - - - - - - - - 0.744 - - -1 - 0 N - - ARHGEF16 Met547Thr M547T not reviewed Insufficiently evaluated not reviewed unknown Array rs74050529 126 10726 0.0117472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 2 - 0 N - - ARHGEF16 Glu681Lys E681K not reviewed Insufficiently evaluated not reviewed unknown Array rs56309807 283 10748 0.0263305 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.62 - - 0 - 2 - 2 - - ARHGEF17 Cys231Ser C231S not reviewed Insufficiently evaluated not reviewed unknown Array 3 92 0.0326087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ARHGEF17 Ser317Thr S317T not reviewed Insufficiently evaluated not reviewed unknown Array 975 10744 0.0907483 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - ARHGEF17 Arg388Leu R388L not reviewed Insufficiently evaluated not reviewed unknown Array rs3741151 803 10704 0.0750187 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 1 N - - ARHGEF18 Gln543Arg Q543R not reviewed Insufficiently evaluated not reviewed unknown Array rs2287918 90 108 0.833333 40 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF18 Gln701Arg Q701R not reviewed Insufficiently evaluated not reviewed unknown Array rs2287918 8663 10710 0.80887 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF18 Arg753His R753H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF18 Arg911His R911H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.155 - - 1 - 0 N - - ARHGEF18 Asn1019Ser N1019S not reviewed Insufficiently evaluated not reviewed unknown Array rs9329368 8587 10586 0.811166 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF18 Asn861Ser N861S not reviewed Insufficiently evaluated not reviewed unknown Array rs9329368 108 126 0.857143 48 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF19 Arg633Gln R633Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61749279 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ARHGEF19 Glu238Gln E238Q not reviewed Insufficiently evaluated not reviewed unknown Array rs221057 2516 10754 0.233959 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.045 - - -2 - 0 N - - ARHGEF19 Gly163Arg G163R not reviewed Insufficiently evaluated not reviewed unknown Array rs221058 2238 10758 0.208031 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.186 - - 6 Y 0 N - - ARHGEF2 Gly923Cys G923C not reviewed Insufficiently evaluated not reviewed unknown Array rs56794580 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGEF3 Leu335Val L335V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3772219 1 0 1 1 1 - - - - - - - - - - - - - - - Y 0.002 - - 0 - 1 N - - ARHGEF3 Leu341Val L341V not reviewed Insufficiently evaluated not reviewed unknown Array rs3772219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - ARHGEF3 Leu367Val L367V not reviewed Insufficiently evaluated not reviewed unknown Array rs3772219 4138 10758 0.384644 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF4 Val85Ile V85I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750360 18 128 0.140625 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ARHGEF4 Gly273Val G273V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF4 Arg650Cys R650C not reviewed Insufficiently evaluated not reviewed unknown Array rs61758709 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF5 Asp175Gly D175G not reviewed Insufficiently evaluated not reviewed unknown Array 887 10300 0.0861165 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ARHGEF5 Thr347Ile T347I not reviewed Insufficiently evaluated not reviewed unknown Array 2867 10040 0.285558 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARHGEF5 Glu487Gly E487G not reviewed Insufficiently evaluated not reviewed unknown Array rs1209412 82 102 0.803922 39 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ARHGEF5L Ser140Phe S140F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGEF5L Arg51Lys R51K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARHGEF6 Val229Ile V229I not reviewed Insufficiently evaluated not reviewed unknown Array 17 8761 0.00194042 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ARID1A Val1455Gly V1455G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARID1A Val1672Gly V1672G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - ARID1B Pro1353Leu P1353L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARID1B Pro1366Leu P1366L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARID1B Pro1406Leu P1406L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARID2 Ser587Gly S587G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - ARID2 Ala810Pro A810P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ARID2 Ala1569Thr A1569T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - ARID3A Glu148Gln E148Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.55 - - -2 - 1 N - - ARID3A Ala171Thr A171T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735587 23 10068 0.00228446 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - ARID3A Gly556Ser G556S not reviewed Insufficiently evaluated not reviewed unknown Array rs1051505 8897 10730 0.829171 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARID3B Val107Ile V107I not reviewed Insufficiently evaluated not reviewed unknown Array 97 10756 0.00901822 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.113 - - -4 - 0 N - - ARID3C Cys335Gly C335G not reviewed Insufficiently evaluated not reviewed unknown Array rs3808869 71 126 0.563492 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ARID3C Arg310Gln R310Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12337871 14 128 0.109375 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 1 N - - ARID4A Thr779Ala T779A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051858 3558 10734 0.33147 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ARID4B Gly877Glu G877E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARID4B Gly963Glu G963E not reviewed Insufficiently evaluated not reviewed unknown Array rs61730876 870 10758 0.08087 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - ARID4B Asp293Gly D293G not reviewed Insufficiently evaluated not reviewed unknown Array rs35560967 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 4 Y 2 N - - ARID5A Pro478Leu P478L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - ARID5B Pro1096Leu P1096L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ARIH2 Arg121Gly R121G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - ARL11 Cys148Arg C148R not reviewed Insufficiently evaluated not reviewed unknown Array rs3803185 4133 10754 0.384322 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.153 - - 8 Y 0 N - - ARL13A Ser215Leu S215L not reviewed Insufficiently evaluated not reviewed unknown Array rs41307262 1194 7891 0.151312 9 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ARL13A Met279Ile M279I not reviewed Insufficiently evaluated not reviewed unknown Array rs3934462 6943 7742 0.896797 50 0 99 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ARL13B Lys183Stop K183X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - ARL13B Lys290Stop K290X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - ARL13B Thr241Ser T241S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - ARL13B Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array rs33944211 941 10758 0.0874698 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y -2 - 1 N - - ARL14 Pro117Thr P117T not reviewed Insufficiently evaluated not reviewed unknown Array rs35633732 547 10758 0.0508459 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 1 N - - ARL16 Ser10Arg S10R not reviewed Insufficiently evaluated not reviewed unknown Array rs8066889 2501 9698 0.257888 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - ARL2 Val141Ala V141A not reviewed Insufficiently evaluated not reviewed unknown Array rs664226 7059 10756 0.656285 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARL2BP Glu87Lys E87K not reviewed Insufficiently evaluated not reviewed unknown Array rs7198865 259 10758 0.0240751 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ARL5C Gln116Arg Q116R not reviewed Insufficiently evaluated not reviewed unknown Array rs16522 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARL5C Met64Leu M64L not reviewed Insufficiently evaluated not reviewed unknown Array rs544198 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARL5C Val52Met V52M not reviewed Insufficiently evaluated not reviewed unknown Array rs657672 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARL5C Asn39Ser N39S not reviewed Insufficiently evaluated not reviewed unknown Array rs657723 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARL5C Thr31Ile T31I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARL6IP1 Arg125Cys R125C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 3 - 1 - - ARL6IP1 Leu23Gln L23Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 5 Y 1 N - - ARL6IP4 Ala30Pro A30P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARL6IP6 Ala61Pro A61P not reviewed Insufficiently evaluated not reviewed unknown Array 23 10680 0.00215356 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 2 - 2 N - - ARMC10 Glu121Asp E121D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARMC10 Glu156Asp E156D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - ARMC2 Met166Thr M166T not reviewed Insufficiently evaluated not reviewed unknown Array rs9386758 174 10758 0.016174 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ARMC2 Ala778Thr A778T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - ARMC3 Ala211Val A211V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 2 - 0 N - - ARMC3 Arg626Gln R626Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10828395 2298 10672 0.21533 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - ARMC3 Ile628Val I628V not reviewed Insufficiently evaluated not reviewed unknown Array 130 10670 0.0121837 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - -4 - 0 N - - ARMC3 Arg834Gln R834Q not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 0 - 2 N - - ARMC3 Ile838Thr I838T not reviewed Insufficiently evaluated not reviewed unknown Array rs60713513 161 10758 0.0149656 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARMC4 Ala1041Ser A1041S not reviewed Insufficiently evaluated not reviewed unknown Array rs3737184 24 10758 0.0022309 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.658 - - -1 - 1 N - - ARMC4 Asn935Lys N935K not reviewed Insufficiently evaluated not reviewed unknown Array rs35181927 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 1 - 3 - - ARMC4 Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7920186 1309 6982 0.187482 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - ARMC4 Arg413Gly R413G not reviewed Insufficiently evaluated not reviewed unknown Array 847 7064 0.119904 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - ARMC4 Ile343Thr I343T not reviewed Insufficiently evaluated not reviewed unknown Array rs4405206 770 10758 0.0715746 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARMC4 Lys329Stop K329X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARMC5 Ile170Val I170V not reviewed Insufficiently evaluated not reviewed unknown Array rs35923277 360 10294 0.0349718 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.505 - - -4 - 1 N - - ARMC5 Ala705Val A705V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARMC5 Thr769Pro T769P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 1 N - - ARMC5 Ser771Phe S771F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - ARMC7 Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array rs34338273 59 10756 0.00548531 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARMC9 Ile180Val I180V not reviewed Insufficiently evaluated not reviewed unknown Array rs1626450 10683 10742 0.994508 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ARMC9 Ile180Lys I180K not reviewed Insufficiently evaluated not reviewed unknown Array rs1626451 10736 10742 0.999441 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ARMS2 Arg3His R3H not reviewed Insufficiently evaluated not reviewed unknown Array rs10490923 991 10284 0.0963633 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 9 - - ARMS2 Ala69Ser A69S pathogenic Insufficiently evaluated pathogenic unknown Array rs10490924 2100 10124 0.207428 37 0 44 3 3 1 Y - - 3 - - - 2 - - - Y - - Y - Y - -1 - 3 N 10 - - associated wuth polypoidal choroidal vasculopathy (PCV) and age-related macular degeneration (AMD) ARNT Pro691Leu P691L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - ARNT Pro706Leu P706L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 7 Y 1 - 8 - - ARNT Asp502Glu D502E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - ARNT Asp517Glu D517E not reviewed Insufficiently evaluated not reviewed unknown Array rs10305741 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 4 - - ARNT2 Met241Val M241V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - ARNT2 Gly679Ser G679S not reviewed Insufficiently evaluated not reviewed unknown Array rs4072568 1847 10758 0.171686 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARNTL2 Lys203Arg K203R not reviewed Insufficiently evaluated not reviewed unknown Array rs71541528 374 10756 0.0347713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - ARNTL2 Val584Ala V584A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARPC1B Lys37Asn K37N not reviewed Insufficiently evaluated not reviewed unknown Array rs1045012 874 10758 0.0812419 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - ARPM1 Leu251Val L251V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARPM1 Glu234Lys E234K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARPM1 Gln117Leu Q117L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARPP-21 Ala408Thr A408T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARPP-21 Pro647His P647H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARR3 Ser299Cys S299C not reviewed Insufficiently evaluated not reviewed unknown Array rs12857550 88 8761 0.0100445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 1 - - ARRB1 Ile158Val I158V not reviewed Insufficiently evaluated not reviewed unknown Array rs58428187 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ARRB2 Leu140Ile L140I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARRB2 Leu155Ile L155I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARRDC1 Asn287Thr N287T not reviewed Insufficiently evaluated not reviewed unknown Array rs72765183 167 10752 0.015532 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - ARRDC1 Gly363Cys G363C not reviewed Insufficiently evaluated not reviewed unknown Array rs35018943 967 10758 0.0898866 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.177 - - 7 Y 0 N - - ARRDC2 Ala52Glu A52E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARRDC2 Arg80Cys R80C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARRDC2 Gly298Asp G298D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARRDC2 Gly303Asp G303D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ARRDC2 Leu391Pro L391P not reviewed Insufficiently evaluated not reviewed unknown Array rs7259041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARRDC2 Leu396Pro L396P not reviewed Insufficiently evaluated not reviewed unknown Array rs7259041 3321 10758 0.308701 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ARRDC4 Pro49Ser P49S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARRDC4 Thr79Ala T79A not reviewed Insufficiently evaluated not reviewed unknown Array rs12101554 2365 3292 0.718408 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ARRDC4 Pro176Thr P176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARRDC4 Ile212Val I212V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARRDC4 Ser358Pro S358P not reviewed Insufficiently evaluated not reviewed unknown Array rs2130882 4025 10756 0.37421 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARSA Arg412His R412H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - ARSA Arg496His R496H benign Insufficiently evaluated benign unknown Array rs6151428 583 10626 0.0548654 8 0 8 1 1 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - ARSA Thr307Ser T307S not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - ARSA Thr391Ser T391S not reviewed Insufficiently evaluated not reviewed unknown Array rs743616 5177 10756 0.481313 38 0 47 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 10 - - ARSA Asn266Ser N266S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ARSA Asn350Ser N350S benign Low clinical importance, benign unknown Array rs2071421 1954 10666 0.183199 26 0 29 1 1 2 Y 2 Y 5 Y 0 - - - - - Y Y - - 0.012 Y Y 0 - 4 N 8 0 2 This common variant (HapMap 24.1% allele frequency) causes a loss of a glycosylation site (affecting the size of the protein when studied with gel electrophoresis) but does not affect enzyme activity or stability. ARSB Val376Met V376M not reviewed Insufficiently evaluated not reviewed unknown Array rs17220759 1460 10758 0.135713 12 0 14 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 2 - 8 - - ARSB Val358Met V358M not reviewed Insufficiently evaluated not reviewed unknown Array rs1065757 3443 10758 0.320041 25 0 31 0 0 - - - - - - - - - - - - Y - - - 0.117 Y - 0 - 2 - 10 - - ARSD Met564Thr M564T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228431 1057 8761 0.120648 19 0 28 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ARSD Lys367Arg K367R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARSD Arg359His R359H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARSD Thr358Arg T358R not reviewed Insufficiently evaluated not reviewed unknown Array rs211648 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARSD Val343Ala V343A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARSD Ala282Asp A282D not reviewed Insufficiently evaluated not reviewed unknown Array 77 8761 0.00878895 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 5 Y 2 N - - ARSD Ser224Cys S224C not reviewed Insufficiently evaluated not reviewed unknown Array rs211653 3905 8758 0.445878 21 0 34 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ARSD Phe223Ile F223I not reviewed Insufficiently evaluated not reviewed unknown Array 63 8758 0.00719342 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARSD Gly221Ser G221S not reviewed Insufficiently evaluated not reviewed unknown Array 77 8757 0.00879296 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ARSD Met176Lys M176K not reviewed Insufficiently evaluated not reviewed unknown Array 83 8759 0.00947597 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - ARSD Gly175Asp G175D not reviewed Insufficiently evaluated not reviewed unknown Array 69 8759 0.00787761 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ARSD Leu166Gln L166Q not reviewed Insufficiently evaluated not reviewed unknown Array 240 8744 0.0274474 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 5 Y 2 N - - ARSD Ser157Phe S157F not reviewed Insufficiently evaluated not reviewed unknown Array 30 8727 0.00343761 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.151 - - 5 Y 0 N - - ARSE Gly424Ser G424S not reviewed Insufficiently evaluated not reviewed unknown Array rs35143646 4284 8747 0.489768 32 0 57 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 3 - 1 - - ARSF Arg335Lys R335K not reviewed Insufficiently evaluated not reviewed unknown Array 80 8760 0.00913242 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ARSF Gln542Lys Q542K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ARSG Thr236Ser T236S not reviewed Insufficiently evaluated not reviewed unknown Array rs1558876 3899 10758 0.362428 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - ARSG Trp274Arg W274R not reviewed Insufficiently evaluated not reviewed unknown Array rs1558878 4781 10758 0.444413 34 0 39 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - ARSG Arg385His R385H not reviewed Insufficiently evaluated not reviewed unknown Array rs9972951 379 10758 0.0352296 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ARSG Thr444Met T444M not reviewed Insufficiently evaluated not reviewed unknown Array rs62000424 1163 10758 0.108106 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 0 N - - ARSH Thr387Met T387M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751925 5 92 0.0543478 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - ART1 Thr101Ser T101S not reviewed Insufficiently evaluated not reviewed unknown Array rs61998205 881 10758 0.0818925 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ART1 Arg102His R102H not reviewed Insufficiently evaluated not reviewed unknown Array rs2280133 123 10758 0.0114334 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ART1 Pro105Leu P105L not reviewed Insufficiently evaluated not reviewed unknown Array rs35123761 847 10758 0.0787321 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ART1 Leu257Pro L257P not reviewed Insufficiently evaluated not reviewed unknown Array rs2280134 6634 10758 0.616657 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ART3 Ile102Thr I102T not reviewed Insufficiently evaluated not reviewed unknown Array rs72869116 494 10758 0.0459193 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ART3 Ser341Leu S341L not reviewed Insufficiently evaluated not reviewed unknown Array rs1128864 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ART3 Ser352Leu S352L not reviewed Insufficiently evaluated not reviewed unknown Array rs1128864 46 122 0.377049 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ART3 Ser363Leu S363L not reviewed Insufficiently evaluated not reviewed unknown Array rs1128864 4034 10758 0.374977 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - ART4 Leu300Val L300V not reviewed Insufficiently evaluated not reviewed unknown Array rs3088190 1110 10758 0.103179 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ART4 Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array rs11276 3802 10758 0.353411 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ART4 Gln149Lys Q149K not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ART5 Thr284Lys T284K not reviewed Insufficiently evaluated not reviewed unknown Array rs2271586 3352 10758 0.311582 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ART5 Tyr249His Y249H not reviewed Insufficiently evaluated not reviewed unknown Array rs2271589 1056 10758 0.0981595 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ART5 Glu156Lys E156K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746063 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ART5 Ile25Thr I25T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ARTN Gln19Arg Q19R not reviewed Insufficiently evaluated not reviewed unknown Array rs2242637 103 126 0.81746 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARVCF Arg906Gln R906Q not reviewed Insufficiently evaluated not reviewed unknown Array rs165815 7886 10758 0.733036 48 0 81 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ARVCF Pro712Arg P712R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - ARVCF Arg539Gln R539Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 10754 0.00660219 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 3 - 6 - - ARVCF Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array rs2073748 3412 9982 0.341815 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.769 - - 7 Y 0 N - - ARVCF Arg196Gln R196Q not reviewed Insufficiently evaluated not reviewed unknown Array 190 9364 0.0202905 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ARVCF Val175Ala V175A not reviewed Insufficiently evaluated not reviewed unknown Array rs2240717 4218 10384 0.406202 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARVCF Asp150Asn D150N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10614 0.00282646 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 2 N - - AS3MT Met287Thr M287T not reviewed Insufficiently evaluated not reviewed unknown Array rs11191439 1038 9690 0.107121 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ASAH1 Val298Leu V298L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ASAH1 Val304Leu V304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ASAH1 Val320Leu V320L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ASAH1 Val240Ala V240A not reviewed Insufficiently evaluated not reviewed unknown Array rs10103355 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ASAH1 Val246Ala V246A not reviewed Insufficiently evaluated not reviewed unknown Array rs10103355 9327 10758 0.866983 4 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ASAH1 Val262Ala V262A not reviewed Insufficiently evaluated not reviewed unknown Array rs10103355 107 128 0.835938 47 0 83 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - ASAH1 Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array rs1049874 53 118 0.449153 34 0 44 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - ASAH1 Ile93Val I93V not reviewed Insufficiently evaluated not reviewed unknown Array rs1049874 4521 10752 0.42048 2 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 4 - - ASAH1 Val72Met V72M not reviewed Insufficiently evaluated not reviewed unknown Array rs1071645 4566 10758 0.424428 2 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - ASAH1 Val88Met V88M not reviewed Insufficiently evaluated not reviewed unknown Array rs1071645 58 128 0.453125 38 0 48 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - ASAH1 Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ASAH1 Val63Ile V63I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ASAH1 Ile31Val I31V not reviewed Insufficiently evaluated not reviewed unknown Array rs3213606 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ASAH2 Ile38Thr I38T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASAH2B Ser19Phe S19F not reviewed Insufficiently evaluated not reviewed unknown Array 402 10758 0.0373675 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASAM Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASAP1 Ile728Val I728V not reviewed Insufficiently evaluated not reviewed unknown Array rs966185 4289 10758 0.39868 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ASAP2 Glu748Asp E748D not reviewed Insufficiently evaluated not reviewed unknown Array rs2715860 5396 10758 0.50158 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ASAP3 Glu368Ala E368A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASAP3 Glu377Ala E377A not reviewed Insufficiently evaluated not reviewed unknown Array rs16828486 342 10758 0.0317903 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.78 - - 3 - 1 N - - ASAP3 Gly192Glu G192E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASAP3 Gly201Glu G201E not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ASAP3 Arg77Gln R77Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.351 - - 0 - 1 N - - ASB10 Pro387Thr P387T not reviewed Insufficiently evaluated not reviewed unknown Array 188 3234 0.0581323 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ASB10 Pro447Thr P447T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASB10 Thr146Ala T146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB10 Thr206Ala T206A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB10 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array 159 10724 0.0148266 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASB10 Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASB11 Ser242Gly S242G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - ASB11 Ser263Gly S263G not reviewed Insufficiently evaluated not reviewed unknown Array 153 8761 0.0174638 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 2 - 1 - 4 - - ASB13 Leu242Val L242V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - ASB13 Val45Met V45M not reviewed Insufficiently evaluated not reviewed unknown Array rs60413325 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ASB14 Ile197Val I197V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASB14 Ile318Val I318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASB15 Pro57Leu P57L not reviewed Insufficiently evaluated not reviewed unknown Array rs6962756 8428 10758 0.783417 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ASB15 Ser245Leu S245L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASB15 Gly357Ala G357A not reviewed Insufficiently evaluated not reviewed unknown Array rs4731112 7709 10758 0.716583 53 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ASB15 Met411Thr M411T not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASB16 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ASB16 Gln63His Q63H not reviewed Insufficiently evaluated not reviewed unknown Array rs7218599 9670 10758 0.898866 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ASB16 Ala218Val A218V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASB16 Ala234Thr A234T not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB16 Thr249Ala T249A not reviewed Insufficiently evaluated not reviewed unknown Array rs7212573 55 104 0.528846 31 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ASB16 Asn294Ser N294S not reviewed Insufficiently evaluated not reviewed unknown Array rs7212854 805 5116 0.157349 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASB16 Ser331Ala S331A not reviewed Insufficiently evaluated not reviewed unknown Array rs7217858 14 36 0.388889 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ASB16 Asn333Ser N333S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9016 0.000110913 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASB17 Ser2Asn S2N not reviewed Insufficiently evaluated not reviewed unknown Array rs3795251 3178 10730 0.296179 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASB18 Ala104Thr A104T not reviewed Insufficiently evaluated not reviewed unknown Array rs6756597 52 128 0.40625 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ASB2 Arg3Pro R3P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 3 - 2 - - ASB6 Val417Met V417M not reviewed Insufficiently evaluated not reviewed unknown Array rs28438775 219 10758 0.0203569 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ASB8 Gly198Arg G198R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ASB9 His162Arg H162R not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.639 - - 1 - 1 N - - ASCC1 Glu301Asp E301D not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ASCC1 Asp34Asn D34N not reviewed Insufficiently evaluated not reviewed unknown Array rs11558719 920 10758 0.0855178 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.154 - - -1 - 0 N - - ASCC2 Arg571Gln R571Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736786 200 10756 0.0185943 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.635 - - 0 - 1 N - - ASCC2 Arg509Gln R509Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4823054 642 10756 0.0596876 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.876 - - 0 - 1 N - - ASCC2 Pro423Ser P423S not reviewed Insufficiently evaluated not reviewed unknown Array rs36571 748 10758 0.0695297 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ASCC2 Asp407His D407H not reviewed Insufficiently evaluated not reviewed unknown Array rs28265 963 10758 0.0895148 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 0 N - - ASCC2 Val123Ile V123I not reviewed Insufficiently evaluated not reviewed unknown Array rs11549795 937 10758 0.087098 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.935 - - -4 - 1 N - - ASCC2 Arg96Cys R96C not reviewed Insufficiently evaluated not reviewed unknown Array rs1894473 231 10758 0.0214724 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - ASCC3 Tyr2176Cys Y2176C not reviewed Insufficiently evaluated not reviewed unknown Array rs240768 1073 10758 0.0997397 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - ASCC3 Ser1995Cys S1995C not reviewed Insufficiently evaluated not reviewed unknown Array rs240780 7378 10758 0.685815 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ASCC3 Val1930Met V1930M not reviewed Insufficiently evaluated not reviewed unknown Array rs3213542 902 10758 0.0838446 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.191 - - 0 - 0 N - - ASCC3 Ser1016Cys S1016C not reviewed Insufficiently evaluated not reviewed unknown Array 66 10746 0.00614182 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 1 - 3 - - ASCC3 Leu146Phe L146F not reviewed Insufficiently evaluated not reviewed unknown Array rs9390698 3709 10758 0.344767 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.09 - - 0 - 0 N - - ASCL3 Arg55Leu R55L not reviewed Insufficiently evaluated not reviewed unknown Array rs4909951 5911 10758 0.549452 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ASCL4 Leu31Phe L31F not reviewed Insufficiently evaluated not reviewed unknown Array 196 10734 0.0182597 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASGR2 Gly66Arg G66R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASGR2 Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array 2404 10758 0.223462 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ASH1L Asn1941Asp N1941D not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - ASH1L Thr1771Ala T1771A not reviewed Insufficiently evaluated not reviewed unknown Array rs4971053 10228 10758 0.950734 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ASH1L Ala1598Val A1598V not reviewed Insufficiently evaluated not reviewed unknown Array rs72993485 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - ASH1L Ser1416Pro S1416P not reviewed Insufficiently evaluated not reviewed unknown Array rs13373934 125 10758 0.0116193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.326 - - 3 - 2 - 3 - - ASMT Asn17Lys N17K not reviewed Insufficiently evaluated not reviewed unknown Array rs17149149 9 10742 0.000837832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 1 - 3 - 6 - - ASMT Trp190Arg W190R not reviewed Insufficiently evaluated not reviewed unknown Array rs73174047 145 530 0.273585 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ASMTL Arg541Lys R541K not reviewed Insufficiently evaluated not reviewed unknown Array rs73180916 2727 10240 0.266309 25 0 35 0 0 - - - - - - - - - - - - - - - - 0.048 - - -3 - 0 N - - ASMTL Val458Met V458M not reviewed Insufficiently evaluated not reviewed unknown Array rs66914116 2573 10004 0.257197 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.098 - - 0 - 0 N - - ASNS Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array rs2070159 116 10758 0.0107827 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ASNS Val210Glu V210E not reviewed Insufficiently evaluated not reviewed unknown Array rs1049674 8649 10758 0.80396 52 0 96 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ASNS Met116Thr M116T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.908 - - 2 - 2 N - - ASNSD1 Gly190Arg G190R not reviewed Insufficiently evaluated not reviewed unknown Array rs1437880 10563 10748 0.982787 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ASNSD1 Met434Thr M434T not reviewed Insufficiently evaluated not reviewed unknown Array rs35137531 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - ASPA Met82Thr M82T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 2 - 2 N - - ASPDH Gln161Arg Q161R not reviewed Insufficiently evaluated not reviewed unknown Array rs12977172 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASPDH Gln266Arg Q266R not reviewed Insufficiently evaluated not reviewed unknown Array rs12977172 7541 9938 0.758805 44 0 80 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ASPG Cys95Arg C95R not reviewed Insufficiently evaluated not reviewed unknown Array rs1770984 3030 10260 0.295322 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ASPG Leu96Val L96V not reviewed Insufficiently evaluated not reviewed unknown Array rs1744284 3030 10256 0.295437 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ASPG Ser344Arg S344R not reviewed Insufficiently evaluated not reviewed unknown Array rs8012505 1182 10198 0.115905 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.721 - - 3 - 0 N - - ASPH Gly468Arg G468R not reviewed Insufficiently evaluated not reviewed unknown Array rs61731238 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - ASPH Asp231Val D231V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ASPH Asp245Val D245V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 8 Y 1 N - - ASPH Glu230Ala E230A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ASPH Glu244Ala E244A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - ASPH Glu230Stop E230X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ASPH Glu244Stop E244X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ASPH Phe25Leu F25L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASPH Phe54Leu F54L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ASPHD2 Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array 715 10758 0.0664622 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASPM Cys2953Arg C2953R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ASPM Leu2647Ile L2647I not reviewed Insufficiently evaluated not reviewed unknown Array rs3762271 3438 10750 0.319814 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - ASPM Gln2620His Q2620H not reviewed Insufficiently evaluated not reviewed unknown Array rs12138336 552 10756 0.0513202 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - ASPM Val2596Ala V2596A not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ASPM Ser2562Gly S2562G not reviewed Insufficiently evaluated not reviewed unknown Array rs41310927 3408 10752 0.316964 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 4 - - ASPM Tyr2494His Y2494H not reviewed Insufficiently evaluated not reviewed unknown Array rs964201 10716 10754 0.996466 56 0 112 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 1 - - ASPM Cys1941Arg C1941R not reviewed Insufficiently evaluated not reviewed unknown Array rs61249253 165 10756 0.0153403 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ASPM Ala1860Val A1860V not reviewed Insufficiently evaluated not reviewed unknown Array 163 10754 0.0151572 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ASPM Thr1688Ile T1688I not reviewed Insufficiently evaluated not reviewed unknown Array rs62624968 163 10748 0.0151656 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ASPM Ser1090Phe S1090F not reviewed Insufficiently evaluated not reviewed unknown Array rs16841081 532 10708 0.0496825 8 0 8 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ASPM Asp578Asn D578N not reviewed Insufficiently evaluated not reviewed unknown Array rs60950503 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ASPM Arg430Gly R430G not reviewed Insufficiently evaluated not reviewed unknown Array rs6428388 140 10728 0.01305 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - ASPRV1 Thr49Ala T49A not reviewed Insufficiently evaluated not reviewed unknown Array rs3796097 6821 10758 0.63404 50 0 84 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 0 N - - ASPSCR1 Leu252Gln L252Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8074498 5332 10748 0.496092 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ASPSCR1 Val318Met V318M not reviewed Insufficiently evaluated not reviewed unknown Array rs34085048 298 10446 0.0285277 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - ASS1 Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.078 Y Y 0 - 2 N - - ASTE1 Val114Leu V114L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ASTL Lys277Gln K277Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1657502 46 128 0.359375 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ASTL Asn266Lys N266K not reviewed Insufficiently evaluated not reviewed unknown Array rs72935897 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASTL Gln222Arg Q222R not reviewed Insufficiently evaluated not reviewed unknown Array rs749458 113 128 0.882812 51 0 92 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASTL Arg204His R204H not reviewed Insufficiently evaluated not reviewed unknown Array rs56238667 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASTN1 Arg1270Gly R1270G not reviewed Insufficiently evaluated not reviewed unknown Array rs12118933 690 10758 0.0641383 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ASTN1 His934Gln H934Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2281180 9172 10758 0.852575 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ASTN1 His924Arg H924R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228956 9161 10758 0.851552 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ASTN1 Asp689Glu D689E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ASTN2 Ser1237Ile S1237I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASTN2 Ser1284Ile S1284I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASTN2 Ser1288Ile S1288I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - ASTN2 Ser340Ile S340I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASTN2 Ala823Thr A823T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASTN2 Ala870Thr A870T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASTN2 Ala874Thr A874T not reviewed Insufficiently evaluated not reviewed unknown Array rs72765708 1003 10754 0.0932676 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ASXL1 Val751Ile V751I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASXL1 Leu815Pro L815P not reviewed Insufficiently evaluated not reviewed unknown Array rs6058694 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ASXL1 Lys838Arg K838R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - ASXL1 Ser1166Arg S1166R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - ASXL1 Leu1325Phe L1325F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - ASXL2 Glu897Gly E897G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ASXL2 Lys127Arg K127R not reviewed Insufficiently evaluated not reviewed unknown Array rs34816614 596 10232 0.0582486 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.55 - - -3 - 0 N - - ASXL3 Asn954Ser N954S not reviewed Insufficiently evaluated not reviewed unknown Array rs2282632 5744 9602 0.598209 43 0 70 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ASXL3 Met1415Arg M1415R not reviewed Insufficiently evaluated not reviewed unknown Array rs16964887 202 9916 0.0203711 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.793 - - 4 Y 2 - 2 - - ASXL3 Val1652Met V1652M not reviewed Insufficiently evaluated not reviewed unknown Array rs17746949 216 9938 0.0217348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ASXL3 Met1708Val M1708V not reviewed Insufficiently evaluated not reviewed unknown Array rs7232237 5999 10234 0.586183 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASZ1 Lys216Thr K216T not reviewed Insufficiently evaluated not reviewed unknown Array rs1029396 812 10758 0.0754787 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - ATAD2 Glu283Asp E283D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ATAD2 Glu278Asp E278D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATAD2B Val1351Ile V1351I not reviewed Insufficiently evaluated not reviewed unknown Array 65 9550 0.00680628 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ATAD2B Asn732Ser N732S not reviewed Insufficiently evaluated not reviewed unknown Array rs62125899 210 9584 0.0219115 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATAD2B Gln207Arg Q207R not reviewed Insufficiently evaluated not reviewed unknown Array rs7579201 9737 9740 0.999692 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATAD3A Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1619925 42 9294 0.00451904 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ATAD3A Trp110Arg W110R not reviewed Insufficiently evaluated not reviewed unknown Array rs1619815 4 9744 0.000410509 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.846 - - 7 Y 1 N - - ATAD3A Ala264Ser A264S not reviewed Insufficiently evaluated not reviewed unknown Array rs2767471 4 94 0.0425532 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATAD3A Asp522His D522H not reviewed Insufficiently evaluated not reviewed unknown Array 218 10758 0.020264 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATAD3B Ser216Ala S216A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10702 0.00130817 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ATAD3B Arg418Gln R418Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 0 - 2 N - - ATAD3B Arg579Cys R579C not reviewed Insufficiently evaluated not reviewed unknown Array 502 10750 0.0466977 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.476 - - 8 Y 1 N - - ATAD3B Gly609Ser G609S not reviewed Insufficiently evaluated not reviewed unknown Array 129 10756 0.0119933 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATAD3B Pro639Ser P639S not reviewed Insufficiently evaluated not reviewed unknown Array 2519 10754 0.234238 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATAD3C Gly58Arg G58R not reviewed Insufficiently evaluated not reviewed unknown Array rs72550008 517 3234 0.159864 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.782 - - 6 Y 0 N - - ATAD5 Thr35Ser T35S not reviewed Insufficiently evaluated not reviewed unknown Array rs9910051 2550 10748 0.237253 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ATAD5 Pro87Ser P87S not reviewed Insufficiently evaluated not reviewed unknown Array rs3816780 1357 10756 0.126162 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATAD5 Glu135Gly E135G not reviewed Insufficiently evaluated not reviewed unknown Array rs11080134 2750 10750 0.255814 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.566 - - 6 Y 0 N - - ATAD5 Arg249Lys R249K not reviewed Insufficiently evaluated not reviewed unknown Array rs17826219 1022 10756 0.0950167 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.064 - - -3 - 0 N - - ATAD5 Asn699His N699H not reviewed Insufficiently evaluated not reviewed unknown Array rs3764421 1025 10758 0.0952779 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.773 - - 0 - 0 N - - ATAD5 Ala759Ser A759S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATAD5 Phe1324Leu F1324L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745366 696 10752 0.0647321 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 1 N - - ATAD5 Tyr1419His Y1419H not reviewed Insufficiently evaluated not reviewed unknown Array rs11657270 1028 10758 0.0955568 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ATAD5 Asn1425Ser N1425S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 0 - 2 N - - ATF4 Gln22Pro Q22P not reviewed Insufficiently evaluated not reviewed unknown Array rs4894 3258 10758 0.302844 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - ATF4 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 7 Y 1 N - - ATF4 Pro258Ala P258A not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.787 - - 2 - 2 - 3 - - ATF4 Glu322Asp E322D not reviewed Insufficiently evaluated not reviewed unknown Array rs1803324 297 10742 0.0276485 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 3 - 3 - - ATF5 Pro121Leu P121L not reviewed Insufficiently evaluated not reviewed unknown Array 6859 10570 0.648912 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ATF5 Leu141Phe L141F not reviewed Insufficiently evaluated not reviewed unknown Array 167 9742 0.0171423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATF6 Phe20Ser F20S not reviewed Insufficiently evaluated not reviewed unknown Array rs35284289 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - ATF6 Asn50Ser N50S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ATF6 Met67Val M67V not reviewed Insufficiently evaluated not reviewed unknown Array rs1058405 2248 10758 0.208961 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - ATF6 Ala145Pro A145P not reviewed Insufficiently evaluated not reviewed unknown Array rs2070150 769 10758 0.0714817 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATF6 Pro157Ser P157S not reviewed Insufficiently evaluated not reviewed unknown Array rs1135983 1020 10758 0.0948132 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - ATF6B Lys541Asn K541N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATF6B Lys544Asn K544N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - ATF7IP Asn348Ile N348I not reviewed Insufficiently evaluated not reviewed unknown Array rs2231909 3356 10758 0.311954 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - ATF7IP Lys530Arg K530R not reviewed Insufficiently evaluated not reviewed unknown Array rs3213764 4498 10758 0.418107 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ATF7IP Pro710Ser P710S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ATF7IP Ser734Asn S734N not reviewed Insufficiently evaluated not reviewed unknown Array rs74069866 252 10758 0.0234244 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - ATF7IP2 Thr61Arg T61R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATF7IP2 Ser279Arg S279R not reviewed Insufficiently evaluated not reviewed unknown Array rs73497840 15 10754 0.00139483 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - ATF7IP2 Thr537Ile T537I not reviewed Insufficiently evaluated not reviewed unknown Array rs9932051 800 10758 0.0743633 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - ATF7IP2 Ala543Thr A543T not reviewed Insufficiently evaluated not reviewed unknown Array rs9931441 796 10758 0.0739914 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.28 - - 1 - 0 N - - ATG10 Ser62Pro S62P not reviewed Insufficiently evaluated not reviewed unknown Array rs3734114 1696 10758 0.15765 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATG10 Thr212Met T212M not reviewed Insufficiently evaluated not reviewed unknown Array rs1864183 3991 10758 0.37098 40 0 56 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ATG10 Pro220His P220H not reviewed Insufficiently evaluated not reviewed unknown Array rs1864182 4705 10758 0.437349 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ATG12 Ile62Val I62V not reviewed Insufficiently evaluated not reviewed unknown Array 213 10756 0.0198029 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATG16L1 Thr281Ala T281A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - Y Y - - - 1 - 3 N - - ATG16L1 Thr300Ala T300A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241880 4910 10758 0.456405 31 0 37 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 2 N - - ATG16L2 Arg220Trp R220W not reviewed Insufficiently evaluated not reviewed unknown Array rs11235604 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 3 - 2 - - ATG16L2 Cys319Ser C319S not reviewed Insufficiently evaluated not reviewed unknown Array 338 10758 0.0314185 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.094 - - 3 - 0 N - - ATG2A Glu1623Lys E1623K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741069 27 10744 0.00251303 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - ATG2A Arg1548Gln R1548Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745749 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - ATG2A Ala663Thr A663T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746813 407 10744 0.0378816 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.491 - - 1 - 1 N - - ATG2A Pro656Arg P656R not reviewed Insufficiently evaluated not reviewed unknown Array rs656195 10717 10722 0.999534 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ATG2A Pro656Gln P656Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - ATG2A Arg566His R566H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10734 0.00223589 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - ATG2A Ala404Val A404V not reviewed Insufficiently evaluated not reviewed unknown Array rs60711419 898 10754 0.0835038 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ATG2A Arg394Cys R394C not reviewed Insufficiently evaluated not reviewed unknown Array rs35115827 896 10758 0.0832869 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.018 - - 8 Y 0 N - - ATG2B Ile1567Thr I1567T not reviewed Insufficiently evaluated not reviewed unknown Array rs2289622 10514 10758 0.977319 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATG2B Thr1534Ser T1534S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATG2B Gln1383Glu Q1383E not reviewed Insufficiently evaluated not reviewed unknown Array rs3759601 3575 10758 0.332311 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ATG2B Asn1124Asp N1124D not reviewed Insufficiently evaluated not reviewed unknown Array rs9323945 10454 10538 0.992029 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ATG2B Asn1089Ser N1089S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9582 0.000104362 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG2B Thr726Ser T726S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATG2B Phe725Leu F725L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG2B Phe725Ser F725S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATG2B Tyr587His Y587H not reviewed Insufficiently evaluated not reviewed unknown Array rs73363260 44 9452 0.0046551 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATG2B Asn479Ser N479S not reviewed Insufficiently evaluated not reviewed unknown Array 264 9546 0.0276556 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG4A Glu180Asp E180D not reviewed Insufficiently evaluated not reviewed unknown Array 115 8761 0.0131264 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - -2 - 2 N - - ATG4B Leu354Gln L354Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7601000 8795 10496 0.837938 47 0 83 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ATG7 Val432Ala V432A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - ATG7 Val471Ala V471A not reviewed Insufficiently evaluated not reviewed unknown Array 465 10758 0.0432236 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.365 - - 2 - 2 - 4 - - ATG9B Arg791Trp R791W not reviewed Insufficiently evaluated not reviewed unknown Array rs3800789 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATG9B Pro766Ala P766A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ATG9B Asn493Ser N493S not reviewed Insufficiently evaluated not reviewed unknown Array 248 3066 0.0808871 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATG9B Tyr238Cys Y238C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10208 0.000489811 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATG9B Pro166Leu P166L not reviewed Insufficiently evaluated not reviewed unknown Array rs61078191 69 9896 0.00697251 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ATIC Thr116Ser T116S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2372536 2664 10758 0.24763 21 0 22 3 3 - - - - - - - - - - - - - - - Y 0.001 - - -2 - 1 N - - ATIC Pro471Ser P471S not reviewed Insufficiently evaluated not reviewed unknown Array rs56117859 351 10758 0.0326269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 3 - - ATL1 Thr108Ala T108A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATL2 Phe469Cys F469C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ATL2 Asp420His D420H not reviewed Insufficiently evaluated not reviewed unknown Array rs7582826 756 10758 0.0702733 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATL2 Asn272Ser N272S not reviewed Insufficiently evaluated not reviewed unknown Array rs34873284 382 10758 0.0355085 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ATL2 Ile184Met I184M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ATL2 Trp18Arg W18R not reviewed Insufficiently evaluated not reviewed unknown Array rs3731847 5502 10736 0.512481 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ATL3 Gly72Ser G72S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.594 - - 2 - 1 N - - ATM Asp126Glu D126E not reviewed Insufficiently evaluated not reviewed unknown Array rs2234997 738 10758 0.0686001 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 10 - - ATM Leu546Val L546V not reviewed Insufficiently evaluated not reviewed unknown Array rs2227924 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - ATM Pro872Ser P872S not reviewed Insufficiently evaluated not reviewed unknown Array rs3218673 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - ATM Met1064Leu M1064L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ATM Asp1853Asn D1853N not reviewed Insufficiently evaluated not reviewed unknown Array rs1801516 1077 10758 0.100112 7 0 9 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 10 - - ATM Asp505Asn D505N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 2 - - ATM Asn1983Ser N1983S not reviewed Insufficiently evaluated not reviewed unknown Array rs659243 128 128 1 56 0 112 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - ATM Asn635Ser N635S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - ATM Val2079Ile V2079I benign Low clinical importance, Uncertain benign unknown Array rs1800060 69 10758 0.00641383 1 0 1 1 1 1 Y - - 1 Y - - - - - - Y - - - - Y Y -4 - 4 - 2 0 0 Probably benign. ATM Val731Ile V731I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ATM Ser2146Thr S2146T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10752 0.00418527 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATM Ser798Thr S798T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 2 - - ATM Leu2332Pro L2332P not reviewed Insufficiently evaluated not reviewed unknown Array rs4988111 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - ATM Leu984Pro L984P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - ATMIN Ser240Pro S240P not reviewed Insufficiently evaluated not reviewed unknown Array rs2278022 694 10758 0.0645101 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 0 N - - ATMIN Thr660Ala T660A not reviewed Insufficiently evaluated not reviewed unknown Array rs36040615 169 10758 0.0157092 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ATOH1 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 3 - 2 - - ATOH7 Arg65Gly R65G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - ATOH8 Leu150Pro L150P not reviewed Insufficiently evaluated not reviewed unknown Array rs17851881 3716 8048 0.46173 24 0 36 0 0 - - - - - - - - - - - - - - - - 0.288 - - 7 Y 0 N - - ATOH8 Arg162His R162H not reviewed Insufficiently evaluated not reviewed unknown Array 977 8980 0.108797 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 1 N - - ATP10A Ala1366Pro A1366P not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.331 - - 2 - 1 N - - ATP10A Gly1341Trp G1341W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 7 Y 0 N - - ATP10A Arg1298Ser R1298S not reviewed Insufficiently evaluated not reviewed unknown Array rs3816800 5233 10758 0.486429 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATP10A Ala1179Thr A1179T not reviewed Insufficiently evaluated not reviewed unknown Array rs2076744 2709 10758 0.251813 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.108 - - 1 - 0 N - - ATP10A Trp1172Cys W1172C not reviewed Insufficiently evaluated not reviewed unknown Array rs2076742 934 10758 0.0868191 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - ATP10A Thr962Met T962M not reviewed Insufficiently evaluated not reviewed unknown Array rs73361174 96 10758 0.00892359 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.521 - - 2 - 1 N - - ATP10A Ala784Thr A784T not reviewed Insufficiently evaluated not reviewed unknown Array rs2066704 995 10758 0.0924893 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ATP10A Thr532Met T532M not reviewed Insufficiently evaluated not reviewed unknown Array rs2066703 954 10758 0.0886782 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 0 N - - ATP10A Arg504His R504H not reviewed Insufficiently evaluated not reviewed unknown Array rs56724944 78 10746 0.00725851 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - ATP10A Ile367Val I367V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - -4 - 2 N - - ATP10A Ser353Tyr S353Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17116056 1251 10758 0.116286 14 0 19 0 0 - - - - - - - - - - - - - - - - 0.847 - - 5 Y 0 N - - ATP10A Arg244Cys R244C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.506 - - 8 Y 1 N - - ATP10B Arg1402Gly R1402G not reviewed Insufficiently evaluated not reviewed unknown Array rs61734663 134 10258 0.013063 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.228 - - 6 Y 1 N - - ATP10B Arg964Cys R964C not reviewed Insufficiently evaluated not reviewed unknown Array 8 9764 0.000819336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 8 Y 0 N - - ATP10B Arg821Trp R821W not reviewed Insufficiently evaluated not reviewed unknown Array rs61734667 98 9574 0.0102361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.9 - - 7 Y 2 N - - ATP10B Asp543Asn D543N not reviewed Insufficiently evaluated not reviewed unknown Array 8 9784 0.000817661 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - ATP10B Ile540Thr I540T not reviewed Insufficiently evaluated not reviewed unknown Array 82 9770 0.00839304 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - 3 - 1 N - - ATP10B Cys217Arg C217R not reviewed Insufficiently evaluated not reviewed unknown Array rs958912 8400 9836 0.854006 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ATP10B Thr161Ile T161I not reviewed Insufficiently evaluated not reviewed unknown Array rs73306687 143 10182 0.0140444 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 1 - 1 - - ATP10B Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10018 9.982e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ATP10D Thr43Ile T43I not reviewed Insufficiently evaluated not reviewed unknown Array rs33995001 4170 10758 0.387619 31 0 35 0 0 - - - - - - - - - - - - - - - - 0.143 - - 3 - 0 N - - ATP10D Ala337Thr A337T not reviewed Insufficiently evaluated not reviewed unknown Array rs35012290 593 10756 0.055132 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 1 N - - ATP10D Phe522Leu F522L not reviewed Insufficiently evaluated not reviewed unknown Array rs6843325 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - ATP10D Pro716Thr P716T not reviewed Insufficiently evaluated not reviewed unknown Array rs34208443 1525 10758 0.141755 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ATP10D Arg784Stop R784X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP10D Ser959Asn S959N not reviewed Insufficiently evaluated not reviewed unknown Array rs17462252 510 10758 0.0474066 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP10D Arg1183Lys R1183K not reviewed Insufficiently evaluated not reviewed unknown Array rs16851681 2939 10758 0.273192 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ATP10D Val1240Ile V1240I not reviewed Insufficiently evaluated not reviewed unknown Array rs1058793 2242 10758 0.208403 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ATP10D Ser1389Thr S1389T not reviewed Insufficiently evaluated not reviewed unknown Array rs4145944 4746 10758 0.44116 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ATP11A Val28Gly V28G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATP11A Met317Val M317V not reviewed Insufficiently evaluated not reviewed unknown Array rs368865 8604 10758 0.799777 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATP11A Ala915Thr A915T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746637 220 10758 0.0204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP11A Val1091Ile V1091I not reviewed Insufficiently evaluated not reviewed unknown Array rs11616795 839 10758 0.0779885 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ATP11B Arg279Leu R279L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ATP11B Ile432Asn I432N not reviewed Insufficiently evaluated not reviewed unknown Array 210 10758 0.0195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - ATP11B Leu566Val L566V not reviewed Insufficiently evaluated not reviewed unknown Array 64 10746 0.0059557 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 1 N - - ATP11B Ala585Thr A585T not reviewed Insufficiently evaluated not reviewed unknown Array 161 10746 0.0149823 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP11B Arg954His R954H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - ATP11C Val972Met V972M not reviewed Insufficiently evaluated not reviewed unknown Array rs55724992 295 8761 0.033672 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - ATP11C Tyr522Cys Y522C not reviewed Insufficiently evaluated not reviewed unknown Array rs17281983 65 8756 0.00742348 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 4 - - ATP11C Cys114Trp C114W not reviewed Insufficiently evaluated not reviewed unknown Array rs2491014 8616 8755 0.984123 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ATP12A Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ATP12A Arg517His R517H not reviewed Insufficiently evaluated not reviewed unknown Array rs41288280 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP13A1 Ser224Arg S224R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP13A1 Cys126Phe C126F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - ATP13A2 Ala1072Thr A1072T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATP13A2 His419Pro H419P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - ATP13A2 His424Pro H424P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 5 Y 3 N - - ATP13A2 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array rs56379718 68 10758 0.00632088 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 2 - 1 N - - ATP13A3 Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array 25 9628 0.00259659 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP13A3 Asn155Thr N155T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9416 0.000106202 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP13A4 Glu646Asp E646D not reviewed Insufficiently evaluated not reviewed unknown Array rs35424709 872 10758 0.081056 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.86 - - -2 - 1 N - - ATP13A4 Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - -4 - 1 N - - ATP13A4 Ile181Met I181M not reviewed Insufficiently evaluated not reviewed unknown Array rs6788448 4721 10758 0.438836 40 0 51 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 1 N - - ATP13A5 Val1131Ala V1131A not reviewed Insufficiently evaluated not reviewed unknown Array rs2271791 37 128 0.289062 21 0 28 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 0 N - - ATP13A5 Ala756Thr A756T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ATP13A5 Gly739Ser G739S not reviewed Insufficiently evaluated not reviewed unknown Array rs2280268 64 128 0.5 33 0 51 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ATP13A5 Ala677Val A677V not reviewed Insufficiently evaluated not reviewed unknown Array rs73888252 30 128 0.234375 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ATP13A5 Phe467Val F467V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ATP13A5 Cys306Trp C306W not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ATP13A5 Glu133Gln E133Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6797429 71 126 0.563492 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ATP13A5 Ser96Tyr S96Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12637558 43 128 0.335938 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 1 N - - ATP13A5 Leu42Met L42M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.347 - - -3 - 1 N - - ATP13A5 Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - ATP1A2 Ile883Asn I883N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 7 Y 2 N - - ATP1A3 Asp402Glu D402E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATP1A3 Phe401Leu F401L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATP1A4 Gly83Asp G83D not reviewed Insufficiently evaluated not reviewed unknown Array rs6427504 7831 10758 0.727923 53 0 80 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ATP1A4 Arg263Gln R263Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 1 - 1 - - ATP1A4 Met586Ile M586I not reviewed Insufficiently evaluated not reviewed unknown Array rs7528360 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 1 - 3 - - ATP1B2 Gln124Leu Q124L not reviewed Insufficiently evaluated not reviewed unknown Array rs34745087 112 10758 0.0104109 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.283 - - 5 Y 2 - 3 - - ATP1B4 Thr46Met T46M not reviewed Insufficiently evaluated not reviewed unknown Array 17 8761 0.00194042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP1B4 His157Gln H157Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP1B4 His161Gln H161Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - -1 - 1 N - - ATP2A1 Asp650Asn D650N not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP2A3 Asp887Asn D887N not reviewed Insufficiently evaluated not reviewed unknown Array rs73330907 779 10756 0.0724247 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ATP2B3 Asn983Ser N983S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ATP2B4 Pro894Ser P894S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ATP2C1 Thr537Lys T537K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.969 Y - 3 - 3 N - - ATP2C2 Ala138Thr A138T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10366 0.00337642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP2C2 Met165Leu M165L not reviewed Insufficiently evaluated not reviewed unknown Array rs247818 9752 9778 0.997341 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ATP2C2 Arg256Lys R256K not reviewed Insufficiently evaluated not reviewed unknown Array 62 9954 0.00622865 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP2C2 Met466Leu M466L not reviewed Insufficiently evaluated not reviewed unknown Array rs247897 3773 9710 0.388568 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ATP2C2 Leu604Gln L604Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62640926 546 10108 0.0540166 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ATP2C2 Arg897Ser R897S not reviewed Insufficiently evaluated not reviewed unknown Array rs62640935 158 9934 0.015905 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP2C2 Leu907Pro L907P not reviewed Insufficiently evaluated not reviewed unknown Array rs16973859 162 9956 0.0162716 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP4A Val265Ala V265A not reviewed Insufficiently evaluated not reviewed unknown Array rs2733743 9976 10756 0.927482 50 0 94 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATP4B Ala248Val A248V not reviewed Insufficiently evaluated not reviewed unknown Array 825 10746 0.0767727 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ATP5D Asp109Asn D109N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - -1 - 1 N - - ATP5G2 Glu3Stop E3X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ATP5G3 Ile65Val I65V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - ATP5J Ala31Gly A31G not reviewed Insufficiently evaluated not reviewed unknown Array rs73338261 104 10758 0.00966722 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 3 - 1 - - ATP5J Ala39Gly A39G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP5O Ile189Val I189V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP5O Lys98Arg K98R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP5S Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array rs2275592 6024 10758 0.559955 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ATP5SL Glu230Lys E230K not reviewed Insufficiently evaluated not reviewed unknown Array rs2231943 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ATP5SL Cys159Ser C159S not reviewed Insufficiently evaluated not reviewed unknown Array rs1043413 4816 10758 0.447667 37 0 54 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ATP5SL Asn34Ser N34S not reviewed Insufficiently evaluated not reviewed unknown Array rs2231940 3591 10758 0.333798 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ATP6AP1 Thr76Ala T76A not reviewed Insufficiently evaluated not reviewed unknown Array 433 8761 0.0494236 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ATP6AP1L Trp4Arg W4R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 7 Y 2 N - - ATP6V0A2 Arg339His R339H not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - ATP6V0A2 Lys374Arg K374R not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -3 - 2 N - - ATP6V0A4 Asp835Glu D835E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ATP6V0A4 Ala630Thr A630T not reviewed Insufficiently evaluated not reviewed unknown Array rs73730479 392 10758 0.036438 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATP6V0A4 Met580Thr M580T pathogenic Insufficiently evaluated pathogenic recessive Array rs3807153 1049 10758 0.0975088 8 0 6 1 1 1 Y 0 - ! Y 0 Y 3 Y 3 Y Y Y - - - Y - 2 - 3 N 1 - - This was observed in a patient with distal renal tubular acidosis, but frequency in 1000 genomes and HapMap (7% and 12.5%) means this variant is likely benign. Distal renal tubular acidosis occurs when the alpha intercalated cells of the cortical collecting duct fail to secrete acid, and consequently, the body retains such acid. The acid retention in turn givew rise to symptoms such as hypokalemia, Urinary stone formation, nephrocalcinosis (deposition of calcium in the substance of the kidney), and bone demineralisation (causing rickets in children and osteomalacia in adults). ATP6V0A4 Met350Val M350V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ATP6V0A4 Val2Ala V2A not reviewed Insufficiently evaluated not reviewed unknown Array rs10258719 7905 10758 0.734802 51 0 78 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - ATP6V0D2 Gly272Arg G272R not reviewed Insufficiently evaluated not reviewed unknown Array rs10094744 361 10758 0.0335564 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 1 - 6 - - ATP6V0E2 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array 997 8388 0.11886 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ATP6V1B1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs11681642 4439 10758 0.412623 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ATP6V1B1 Thr30Ile T30I not reviewed Insufficiently evaluated not reviewed unknown Array rs17720303 1711 10758 0.159044 16 0 18 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 1 - - ATP6V1B1 Ile266Phe I266F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ATP6V1B1 Ala272Val A272V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ATP6V1C2 Asn143Asp N143D not reviewed Insufficiently evaluated not reviewed unknown Array rs1198849 3838 10758 0.356758 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - ATP6V1E1 Ser163Cys S163C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP6V1E1 Ser171Cys S171C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - ATP6V1E1 Ser193Cys S193C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP6V1F Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs73459264 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP6V1G3 Glu54Gln E54Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16843254 384 10754 0.0357076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - -2 - 2 N - - ATP6V1G3 Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74134730 77 10754 0.00716013 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - ATP6V1G3 Arg36Stop R36X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP6V1G3 Ala25Asp A25D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - ATP6V1G3 Arg17Gln R17Q not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ATP6V1G3 Thr2Lys T2K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.783 - - 3 - 1 N - - ATP6V1H Met96Val M96V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.21 - - 0 - 1 N - - ATP7A Glu1350Lys E1350K not reviewed Insufficiently evaluated not reviewed unknown Array rs4826245 90 90 1 55 0 110 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 3 - - ATP7B Val1140Ala V1140A not reviewed Insufficiently evaluated not reviewed unknown Array rs1801249 5762 9848 0.585093 48 0 64 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 10 - - ATP7B Val933Ala V933A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ATP7B His1034Arg H1034R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10226 0.00352044 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 1 - 5 - 4 - - ATP7B His827Arg H827R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ATP7B Arg952Lys R952K not reviewed Insufficiently evaluated not reviewed unknown Array rs732774 5588 9718 0.575015 48 0 61 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -3 - 3 - 7 - - ATP7B Lys670Arg K670R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -3 - 4 - 1 - - ATP7B Lys832Arg K832R not reviewed Insufficiently evaluated not reviewed unknown Array rs1061472 5812 10468 0.555216 46 0 58 0 0 3 Y - - - - - - - - - - Y - - - 0.461 Y Y -3 - 3 - 7 - - ATP7B Val456Leu V456L not reviewed Insufficiently evaluated not reviewed unknown Array rs1801244 4029 9946 0.405087 32 0 37 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 0 - 3 - 9 - - ATP7B Ser406Ala S406A not reviewed Insufficiently evaluated not reviewed unknown Array rs1801243 3961 9880 0.400911 31 0 35 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 3 - 3 - - ATP8A1 Thr658Met T658M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - ATP8A1 Thr673Met T673M not reviewed Insufficiently evaluated not reviewed unknown Array rs3792687 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.963 - - 2 - 3 - 4 - - ATP8B1 Ala1152Thr A1152T not reviewed Insufficiently evaluated not reviewed unknown Array rs222581 10744 10758 0.998699 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - ATP8B1 Arg952Gln R952Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12968116 892 10756 0.0829305 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 - 2 - - ATP8B1 Ser580Asn S580N not reviewed Insufficiently evaluated not reviewed unknown Array rs33963153 148 10758 0.0137572 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.893 Y Y 0 - 4 N - - ATP8B2 Arg1154Cys R1154C not reviewed Insufficiently evaluated not reviewed unknown Array rs41308375 6 10756 0.000557828 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATP8B3 Asn1262His N1262H not reviewed Insufficiently evaluated not reviewed unknown Array rs16994559 962 10134 0.094928 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATP8B3 Ala908Val A908V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - ATP8B3 Val618Ile V618I not reviewed Insufficiently evaluated not reviewed unknown Array rs8100856 1474 10174 0.144879 29 0 33 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ATP8B3 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array rs7250872 3546 10282 0.344875 30 0 40 0 0 - - - - - - - - - - - - - - Y - - - - 6 Y 1 N - - ATP8B4 Asn1165Lys N1165K not reviewed Insufficiently evaluated not reviewed unknown Array rs16962989 322 10758 0.0299312 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 3 - - ATP8B4 Gln1051Leu Q1051L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731575 192 10758 0.0178472 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - ATP8B4 His987Arg H987R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - ATP8B4 Cys874Arg C874R not reviewed Insufficiently evaluated not reviewed unknown Array rs74012834 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ATP8B4 His452Asn H452N not reviewed Insufficiently evaluated not reviewed unknown Array rs2452524 7987 10758 0.742424 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATP8B4 Phe436Leu F436L not reviewed Insufficiently evaluated not reviewed unknown Array rs55687265 109 10758 0.010132 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.391 - - 0 - 1 N - - ATP8B4 Pro371His P371H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.149 - - 5 Y 0 N - - ATP8B4 Asn225Ser N225S not reviewed Insufficiently evaluated not reviewed unknown Array rs16963151 2922 10758 0.271612 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATP8B4 Arg13Gln R13Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ATP8B4 Arg9His R9H not reviewed Insufficiently evaluated not reviewed unknown Array rs73402905 30 10758 0.00278862 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - ATP9B Ser39Gly S39G not reviewed Insufficiently evaluated not reviewed unknown Array rs4078115 1381 8032 0.171937 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATP9B Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP9B Arg108Gln R108Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34938281 99 10758 0.00920245 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP9B Asp504Asn D504N not reviewed Insufficiently evaluated not reviewed unknown Array rs36034863 308 10758 0.0286299 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ATP9B Met732Leu M732L not reviewed Insufficiently evaluated not reviewed unknown Array rs585033 705 10758 0.0655326 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.431 - - -3 - 0 N - - ATPAF1 Ser62Gly S62G not reviewed Insufficiently evaluated not reviewed unknown Array rs11211337 4576 5410 0.845841 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATPAF2 Val171Met V171M not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ATPAF2 Glu84Lys E84K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - ATPBD3 Gly323Cys G323C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATPBD3 Glu203Gln E203Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATPBD3 Ala107Val A107V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ATPBD4 Ile134Leu I134L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATPGD1 Pro14Thr P14T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ATPIF1 Arg63Gly R63G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATR Pro2434Ala P2434A not reviewed Insufficiently evaluated not reviewed unknown Array rs33972295 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.973 - - 2 - 3 - 1 - - ATR Arg2425Gln R2425Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229032 1437 10758 0.133575 8 0 9 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - ATR Gln2307Stop Q2307X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 2 N - - ATR Tyr2132Asp Y2132D not reviewed Insufficiently evaluated not reviewed unknown Array 56 10756 0.0052064 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - ATR Asn1612Ser N1612S not reviewed Insufficiently evaluated not reviewed unknown Array rs55894265 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - ATR Lys297Asn K297N not reviewed Insufficiently evaluated not reviewed unknown Array 118 10756 0.0109706 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.127 - - 1 - 0 N - - ATR Met211Thr M211T not reviewed Insufficiently evaluated not reviewed unknown Array rs2227928 7147 10758 0.664343 51 0 77 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 - 3 - - ATRIP Lys125Gln K125Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11925638 177 10754 0.016459 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - ATRIP Pro240Leu P240L not reviewed Insufficiently evaluated not reviewed unknown Array rs35240314 496 10758 0.0461052 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ATRN Ala96Val A96V not reviewed Insufficiently evaluated not reviewed unknown Array 90 6506 0.0138334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ATRN Asp303Ala D303A not reviewed Insufficiently evaluated not reviewed unknown Array rs6107308 589 10758 0.05475 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ATRN Ser618Thr S618T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - ATRNL1 Ser989Asn S989N not reviewed Insufficiently evaluated not reviewed unknown Array rs1953758 10378 10758 0.964677 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATRNL1 Gly1163Ser G1163S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATRX Gln891Glu Q891E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - Y - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATRX Gln929Glu Q929E not reviewed Insufficiently evaluated not reviewed unknown Array rs3088074 4456 8756 0.508908 36 0 65 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - ATXN1 Ser613Ile S613I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ATXN1 His211Gln H211Q not reviewed Insufficiently evaluated not reviewed unknown Array 255 8498 0.0300071 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ATXN1 His209Gln H209Q not reviewed Insufficiently evaluated not reviewed unknown Array 280 8582 0.0326264 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ATXN1 Ser186Cys S186C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10714 0.00242673 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ATXN1 Pro149Leu P149L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ATXN1L Ser594Gly S594G not reviewed Insufficiently evaluated not reviewed unknown Array 561 3234 0.173469 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATXN2 Pro1166Leu P1166L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ATXN2 Pro1166Ser P1166S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ATXN2 Ser248Asn S248N not reviewed Insufficiently evaluated not reviewed unknown Array rs7969300 471 10756 0.0437895 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN2 Leu107Val L107V not reviewed Insufficiently evaluated not reviewed unknown Array 2680 3610 0.742382 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - ATXN3 Gly240Arg G240R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ATXN3 Gly251Arg G251R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ATXN3 Gly291Arg G291R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ATXN3 Gly306Arg G306R not reviewed Insufficiently evaluated not reviewed unknown Array rs12895357 1720 10758 0.159881 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - ATXN3 Asp151Val D151V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ATXN3 Asp162Val D162V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ATXN3 Asp202Val D202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ATXN3 Asp217Val D217V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ATXN3 Val146Met V146M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN3 Val157Met V157M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN3 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN3 Val212Met V212M not reviewed Insufficiently evaluated not reviewed unknown Array rs1048755 2969 10758 0.275981 29 0 36 0 0 - Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - ATXN3L Gly332Asp G332D not reviewed Insufficiently evaluated not reviewed unknown Array rs4830842 2906 6145 0.472905 38 0 71 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ATXN7 Lys264Arg K264R not reviewed Insufficiently evaluated not reviewed unknown Array rs1053338 995 10050 0.099005 8 0 8 0 0 - - - - - - - - - - - - Y - - - 0.949 Y Y -3 - 4 - 1 - - ATXN7 Val862Met V862M not reviewed Insufficiently evaluated not reviewed unknown Array rs3774729 4140 10508 0.393986 33 0 44 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - ATXN7L1 Ser615Asn S615N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATXN7L1 Ser739Asn S739N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.82 - - 0 - 1 N - - ATXN7L2 Arg195Ser R195S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - AUH Thr221Ile T221I not reviewed Insufficiently evaluated not reviewed unknown Array rs73497143 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 4 - 1 - - AURKA Ile57Val I57V not reviewed Insufficiently evaluated not reviewed unknown Array rs1047972 8998 10758 0.836401 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AURKA Phe31Ile F31I pathogenic Insufficiently evaluated pathogenic unknown Array rs2273535 2018 10758 0.187581 22 0 28 2 2 - - - - 4 Y - - - - - - - Y - - - - - 2 - 2 N - - The AURKA (STK15) 91T->A variant is preferentially amplified and linked to the degree of aneuploidy in colon tumors. The variant is a low-penetrance cancer susceptibility allele associated with multiple cancer types. AURKB Met298Thr M298T not reviewed Insufficiently evaluated not reviewed unknown Array rs1059476 8832 10758 0.82097 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AURKB Met58Ile M58I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AUTS2 Ala303Ser A303S not reviewed Insufficiently evaluated not reviewed unknown Array rs2293507 860 10758 0.0799405 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AUTS2 Ser935Gly S935G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AUTS2 Ser959Gly S959G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - AVEN Glu243Ala E243A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729119 296 10758 0.0275144 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - AVEN Gly234Trp G234W not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - AVEN Gln228Arg Q228R not reviewed Insufficiently evaluated not reviewed unknown Array rs2241647 304 10758 0.028258 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - AVIL Lys204Glu K204E not reviewed Insufficiently evaluated not reviewed unknown Array rs2172521 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AVIL Arg184His R184H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AVL9 Cys257Ser C257S not reviewed Insufficiently evaluated not reviewed unknown Array rs2290213 1529 10758 0.142127 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AVP Gly96Cys G96C pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 4 4 4 Y 1 Y 4 Y 3 Y 3 Y 4 Y Y - - - 0.993 Y - 7 Y Neurohypophyseal Diabetes Insipidus 3 31 0 140 INF 4 - 3 - - This variant as well as G96D are implicated in causing neurohypophyseal diabetes insipidus in a dominant fashion. AVP Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 2 0 - - - - - - - - - - - - Y - - - 0.997 Y - 6 Y 3 N - - AVP Gly47Val G47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.41 Y - 8 Y 2 N - - AVPI1 Ala41Gly A41G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275047 5228 10758 0.485964 43 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AVPI1 Leu36Arg L36R not reviewed Insufficiently evaluated not reviewed unknown Array rs11556392 607 10758 0.0564231 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.924 - - 6 Y 1 N - - AVPR1A Gly6Ser G6S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228154 480 9114 0.0526662 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AVPR1B Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array rs33990840 641 10746 0.0596501 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AVPR1B Arg364His R364H not reviewed Insufficiently evaluated not reviewed unknown Array rs28632197 1132 10752 0.105283 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AVPR2 Arg252Trp R252W benign Insufficiently evaluated benign unknown Array 73 8761 0.00833238 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.482 Y Y 7 Y 4 - 5 - - AWAT1 Arg61Gln R61Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61995694 285 8761 0.0325305 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - AXIN2 Ser651Leu S651L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 1 N - - AXIN2 Val539Met V539M not reviewed Insufficiently evaluated not reviewed unknown Array rs9913621 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.529 Y - 0 - 2 N - - AXIN2 Pro525Ala P525A not reviewed Insufficiently evaluated not reviewed unknown Array rs73346297 105 10758 0.00976018 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.467 Y - 2 - 2 N - - AXIN2 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240308 4190 10758 0.389478 28 0 38 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 4 - - AXL Asn266Asp N266D not reviewed Insufficiently evaluated not reviewed unknown Array rs7249222 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AZGP1 Val19Ile V19I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - AZI1 Ala1006Val A1006V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AZI1 Ala1042Val A1042V not reviewed Insufficiently evaluated not reviewed unknown Array rs74006007 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AZI1 Arg770Cys R770C not reviewed Insufficiently evaluated not reviewed unknown Array rs35898727 28 9870 0.00283688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AZI1 Ala608Thr A608T not reviewed Insufficiently evaluated not reviewed unknown Array rs4613097 869 10676 0.0813975 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AZI1 Val473Ala V473A not reviewed Insufficiently evaluated not reviewed unknown Array rs2659016 10358 10672 0.970577 52 0 99 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AZI1 Thr397Ala T397A not reviewed Insufficiently evaluated not reviewed unknown Array rs2659015 10131 10726 0.944527 54 0 101 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AZI1 Thr272Ala T272A not reviewed Insufficiently evaluated not reviewed unknown Array rs2466773 9914 10464 0.947439 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AZI1 Arg253Trp R253W not reviewed Insufficiently evaluated not reviewed unknown Array 268 10756 0.0249163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AZI1 Thr93Met T93M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AZI1 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array rs8067409 869 10758 0.0807771 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AZU1 Val143Leu V143L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.084 - - 0 - 0 N - - AZU1 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array rs28626600 767 10756 0.071309 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.769 - - 1 - 0 N - - AZU1 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.436 - - 1 - 1 N - - B3GALNT1 Asp126Asn D126N not reviewed Insufficiently evaluated not reviewed unknown Array rs2231257 274 10758 0.0254694 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.184 - - -1 - 0 N - - B3GALNT2 Glu483Lys E483K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B3GALT5 Met85Thr M85T not reviewed Insufficiently evaluated not reviewed unknown Array rs3746887 7344 10758 0.682655 39 0 62 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - B3GALT6 Gln320Stop Q320X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - B3GALTL Glu370Lys E370K not reviewed Insufficiently evaluated not reviewed unknown Array rs1041073 7076 10758 0.657743 46 0 66 0 0 1 Y - - - - - - - - - - Y - - - 0.088 Y Y 0 - 2 N - - B3GALTL Val403Ile V403I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -4 - 2 N - - B3GAT1 Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array rs35434644 476 10478 0.0454285 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - B3GNT2 Asp136Glu D136E not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - B3GNT3 Arg328His R328H not reviewed Insufficiently evaluated not reviewed unknown Array rs36686 8576 10758 0.797174 54 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - B3GNT4 Pro6Ala P6A not reviewed Insufficiently evaluated not reviewed unknown Array rs7136356 3857 10754 0.358657 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 0 N - - B3GNT4 Ser83Thr S83T not reviewed Insufficiently evaluated not reviewed unknown Array rs1001178 408 10758 0.0379253 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - B3GNT4 Leu87Pro L87P not reviewed Insufficiently evaluated not reviewed unknown Array rs35203505 666 10758 0.0619074 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.588 - - 7 Y 0 N - - B3GNT4 Arg248His R248H not reviewed Insufficiently evaluated not reviewed unknown Array rs59453864 126 10758 0.0117122 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - B3GNT6 Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array rs73493606 1896 10702 0.177163 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - B3GNT6 Gly331Asp G331D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - B3GNT7 Val233Ile V233I not reviewed Insufficiently evaluated not reviewed unknown Array rs2290130 2207 10466 0.210873 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - B3GNT8 Arg376Trp R376W not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.54 - - 7 Y 1 N - - B3GNT8 Ser137Gly S137G not reviewed Insufficiently evaluated not reviewed unknown Array rs284662 7384 10752 0.686756 9 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - B3GNT8 Glu104Lys E104K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10710 0.000186741 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - B3GNTL1 Ala341Thr A341T not reviewed Insufficiently evaluated not reviewed unknown Array rs7225887 1778 10738 0.16558 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - B3GNTL1 Pro259Ser P259S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741987 326 10734 0.0303708 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - B3GNTL1 Arg152Gln R152Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - B3GNTL1 Ser13Arg S13R not reviewed Insufficiently evaluated not reviewed unknown Array rs57923322 988 6746 0.146457 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - B4GALNT1 Gly172Arg G172R not reviewed Insufficiently evaluated not reviewed unknown Array rs810205 307 10758 0.0285369 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - B4GALNT1 Leu35Val L35V not reviewed Insufficiently evaluated not reviewed unknown Array rs774896 2313 10120 0.228557 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - B4GALNT2 Glu28Lys E28K not reviewed Insufficiently evaluated not reviewed unknown Array 478 10756 0.0444403 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B4GALNT2 Ala40Asp A40D not reviewed Insufficiently evaluated not reviewed unknown Array rs7207403 5956 10720 0.555597 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - B4GALNT2 Cys380Arg C380R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - B4GALNT2 Cys406Arg C406R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - B4GALNT2 Cys466Arg C466R not reviewed Insufficiently evaluated not reviewed unknown Array rs7224888 1402 10758 0.130322 14 0 14 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - B4GALNT3 Gly59Ser G59S not reviewed Insufficiently evaluated not reviewed unknown Array rs2075033 1110 10758 0.103179 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - B4GALNT3 Glu254Asp E254D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - B4GALNT3 Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11063529 2284 10758 0.212307 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - B4GALNT3 Lys411Arg K411R not reviewed Insufficiently evaluated not reviewed unknown Array rs7298766 3392 10758 0.3153 25 0 32 0 0 - - - - - - - - - - - - - - - - 0.236 - - -3 - 0 N - - B4GALNT3 Pro520Leu P520L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - B4GALNT3 Arg768Gln R768Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11063570 641 10758 0.0595836 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - B4GALNT3 Arg950Gln R950Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.69 - - 0 - 1 N - - B4GALNT4 Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array rs34063493 2889 8584 0.336556 40 0 52 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - B4GALNT4 Gly88Val G88V not reviewed Insufficiently evaluated not reviewed unknown Array rs11822725 195 10696 0.0182311 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 8 Y 3 - 2 - - B4GALT1 Gln205Stop Q205X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - B4GALT2 Gln122His Q122H not reviewed Insufficiently evaluated not reviewed unknown Array rs1859728 593 10758 0.0551218 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 1 N - - B4GALT4 Gln116Glu Q116E not reviewed Insufficiently evaluated not reviewed unknown Array rs3764779 2898 10758 0.269381 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - B4GALT5 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273086 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 2 - 3 - - B4GALT6 Ile32Val I32V not reviewed Insufficiently evaluated not reviewed unknown Array rs35210437 153 10758 0.014222 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - B9D1 Arg61Trp R61W not reviewed Insufficiently evaluated not reviewed unknown Array rs73980038 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 7 Y 2 N - - B9D2 Ile11Met I11M not reviewed Insufficiently evaluated not reviewed unknown Array rs2241714 7778 10758 0.722997 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BAALC Ser129Thr S129T not reviewed Insufficiently evaluated not reviewed unknown Array rs34542607 338 10758 0.0314185 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - BAAT Arg201Pro R201P not reviewed Insufficiently evaluated not reviewed unknown Array rs41281027 1816 10758 0.168805 13 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - BAAT Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1572983 6742 10758 0.626696 48 0 74 0 0 - - - - - - - - - - - - Y - - - 0.136 Y - 0 - 2 - 1 - - BACE1 Cys412Arg C412R not reviewed Insufficiently evaluated not reviewed unknown Array rs539765 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BACE1 Cys437Arg C437R not reviewed Insufficiently evaluated not reviewed unknown Array rs539765 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BACE1 Cys456Arg C456R not reviewed Insufficiently evaluated not reviewed unknown Array rs539765 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BACE1 Cys481Arg C481R not reviewed Insufficiently evaluated not reviewed unknown Array rs539765 10753 10758 0.999535 54 0 108 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - BACH1 Gly471Ala G471A not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.937 Y Y 1 - 4 N - - BAG1 Gln106Stop Q106X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BAG1 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array rs1071545 9121 9294 0.981386 8 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BAG3 Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35434411 253 10758 0.0235174 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - BAG3 Cys151Arg C151R not reviewed Insufficiently evaluated not reviewed unknown Array rs2234962 1603 10752 0.149089 10 0 11 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 1 N - - BAG3 Arg258Trp R258W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - BAG3 Asp300Asn D300N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - BAG3 Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array rs3858340 1269 10758 0.117959 21 0 20 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 1 N - - BAGE Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array rs55673353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAGE Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAGE2 Pro72Ala P72A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAGE2 Thr71Ala T71A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAGE2 Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array rs55673353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAGE3 Pro72Ala P72A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAGE3 Thr71Ala T71A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAGE3 Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array rs55673353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAGE4 Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array rs55673353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAGE4 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAGE5 Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array rs55673353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAGE5 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAHCC1 Ala217Thr A217T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Thr257Ala T257A not reviewed Insufficiently evaluated not reviewed unknown Array rs12938890 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Glu422Lys E422K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAHCC1 Ser927Pro S927P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAHCC1 Thr1082Ala T1082A not reviewed Insufficiently evaluated not reviewed unknown Array rs7213444 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Arg1348Gln R1348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35572189 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAHCC1 Thr1592Ala T1592A not reviewed Insufficiently evaluated not reviewed unknown Array rs12601317 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Val1943Ile V1943I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - BAHCC1 His2031Arg H2031R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Ala2220Val A2220V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAHD1 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73387101 137 10758 0.0127347 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - BAHD1 Gln298Lys Q298K not reviewed Insufficiently evaluated not reviewed unknown Array rs3803357 6274 10726 0.584934 51 0 83 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - BAI2 Pro1577Leu P1577L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 7 Y 1 N - - BAI2 Pro853Leu P853L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 7 Y 1 N - - BAI3 Asn503Ser N503S not reviewed Insufficiently evaluated not reviewed unknown Array rs1932618 9499 10758 0.882971 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BAI3 Gly1071Ser G1071S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 2 - 2 N - - BAIAP2 Gln519Arg Q519R not reviewed Insufficiently evaluated not reviewed unknown Array rs4969391 1519 10758 0.141197 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BAIAP2L2 Ser404Pro S404P not reviewed Insufficiently evaluated not reviewed unknown Array 7 9810 0.000713557 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAIAP2L2 Cys252Arg C252R not reviewed Insufficiently evaluated not reviewed unknown Array rs17856487 430 2492 0.172552 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BAIAP3 Ser66Asn S66N not reviewed Insufficiently evaluated not reviewed unknown Array rs55700295 99 10690 0.00926099 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BAIAP3 Pro119Leu P119L not reviewed Insufficiently evaluated not reviewed unknown Array rs61749061 211 10238 0.0206095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - BAIAP3 Lys198Asn K198N not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - BAIAP3 Asp582Ala D582A not reviewed Insufficiently evaluated not reviewed unknown Array rs1132356 9915 10758 0.92164 55 0 108 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - BAIAP3 Gly590Glu G590E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - BAIAP3 Thr1144Ser T1144S not reviewed Insufficiently evaluated not reviewed unknown Array 177 10654 0.0166135 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - -2 - 1 N - - BANF2 Asn10Asp N10D not reviewed Insufficiently evaluated not reviewed unknown Array rs4814640 10065 10758 0.935583 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BANF2 Asn3Asp N3D not reviewed Insufficiently evaluated not reviewed unknown Array rs4814640 122 128 0.953125 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BANF2 Thr78Ser T78S not reviewed Insufficiently evaluated not reviewed unknown Array rs1053993 40 116 0.344828 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BANF2 Thr85Ser T85S not reviewed Insufficiently evaluated not reviewed unknown Array rs1053993 3744 10758 0.34802 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BANK1 Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BANK1 Arg61His R61H pathogenic Insufficiently evaluated pathogenic unknown Array rs10516487 3049 10758 0.283417 26 0 31 1 1 - - - - - - - - - - - - - Y Y Y - - - 1 - 2 N - - BANK1 Cys167Phe C167F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BANK1 Cys270Phe C270F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BANK1 Cys300Phe C300F not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 4 Y 2 N - - BANK1 Ser170Arg S170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BANK1 Ser273Arg S273R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BANK1 Ser303Arg S303R not reviewed Insufficiently evaluated not reviewed unknown Array rs62321738 578 10750 0.0537674 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 0 N - - BANK1 Ala250Thr A250T not reviewed Insufficiently evaluated not reviewed unknown Array rs3733197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BANK1 Ala353Thr A353T not reviewed Insufficiently evaluated not reviewed unknown Array rs3733197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BANK1 Ala383Thr A383T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3733197 3177 10756 0.29537 24 0 29 1 1 - - - - - - - - - - - - - - - Y 0.778 - - 1 - 1 N - - BANK1 Cys517Arg C517R not reviewed Insufficiently evaluated not reviewed unknown Array rs3113676 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BANK1 Cys620Arg C620R not reviewed Insufficiently evaluated not reviewed unknown Array rs3113676 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BANK1 Cys650Arg C650R not reviewed Insufficiently evaluated not reviewed unknown Array rs3113676 10658 10756 0.990889 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BANP Pro317Ser P317S not reviewed Insufficiently evaluated not reviewed unknown Array 1323 10758 0.122978 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BAP1 Ser596Gly S596G not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAP1 Glu314Lys E314K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - BARD1 Arg658Cys R658C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.484 - - 8 Y 2 - 9 - - BARD1 Val507Met V507M not reviewed Insufficiently evaluated not reviewed unknown Array rs2070093 2919 10756 0.271383 25 0 26 0 0 - - - - - - - - - - - - - - - - 0.032 - - 0 - 0 N - - BARD1 Arg378Ser R378S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229571 5674 10758 0.527421 41 0 57 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - BARD1 Pro24Ser P24S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048108 3093 10366 0.298379 10 0 14 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - BARHL1 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - BARX1 Ala48Thr A48T not reviewed Insufficiently evaluated not reviewed unknown Array 153 2966 0.0515846 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BARX2 Gln153Stop Q153X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BAT2 Arg296His R296H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - BAT2 Thr544Lys T544K not reviewed Insufficiently evaluated not reviewed unknown Array rs1046080 5415 7524 0.719697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BAT2 Ser671Cys S671C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT2 Arg804Cys R804C not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - BAT2 Gly1285Ala G1285A not reviewed Insufficiently evaluated not reviewed unknown Array 545 7520 0.0724734 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAT2 Arg1441His R1441H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - BAT2 Leu1503Pro L1503P not reviewed Insufficiently evaluated not reviewed unknown Array rs2272593 5416 7514 0.720788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BAT2 Arg1563Gln R1563Q not reviewed Insufficiently evaluated not reviewed unknown Array 208 7510 0.0276964 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT2 Arg1740His R1740H not reviewed Insufficiently evaluated not reviewed unknown Array rs1046089 4316 10758 0.40119 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAT2 Val1774Met V1774M not reviewed Insufficiently evaluated not reviewed unknown Array 380 7524 0.050505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BAT2 Leu1895Val L1895V not reviewed Insufficiently evaluated not reviewed unknown Array rs3132453 7169 7520 0.953324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BAT2 Pro2006Ser P2006S not reviewed Insufficiently evaluated not reviewed unknown Array rs10885 1400 7508 0.186468 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BAT2 Phe2083Ser F2083S not reviewed Insufficiently evaluated not reviewed unknown Array 52 7518 0.00691673 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BAT2 Pro2130Leu P2130L not reviewed Insufficiently evaluated not reviewed unknown Array 500 7518 0.066507 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BAT2D1 Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAT2D1 Ala906Thr A906T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAT2D1 Pro935Ala P935A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2D1 Ser1624Cys S1624C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT2D1 Ala1885Thr A1885T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAT2D1 Thr2206Ser T2206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BAT2L Met417Val M417V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT2L Thr936Ser T936S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BAT2L Pro981Leu P981L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAT2L Met1044Thr M1044T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2L Leu1112Pro L1112P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAT2L Ala1276Val A1276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT3 Ser619Pro S619P not reviewed Insufficiently evaluated not reviewed unknown Array 4690 10758 0.435955 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BAT3 Ser625Pro S625P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT3 Met168Val M168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT4 Ile48Thr I48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT4 Arg41Leu R41L not reviewed Insufficiently evaluated not reviewed unknown Array rs3130618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAT5 Trp513Cys W513C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAT5 Arg460Gln R460Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT5 Asn249Asp N249D not reviewed Insufficiently evaluated not reviewed unknown Array 47 7520 0.00625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BAT5 Trp162Gly W162G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAZ1A Arg1377Lys R1377K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BAZ1A Arg1409Lys R1409K not reviewed Insufficiently evaluated not reviewed unknown Array rs45620534 752 10758 0.0699015 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.197 - - -3 - 0 N - - BAZ1A Asn1334Lys N1334K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAZ1A Asn1366Lys N1366K not reviewed Insufficiently evaluated not reviewed unknown Array rs1044140 768 10758 0.0713887 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.251 - - 1 - 0 N - - BAZ1A Ser286Ile S286I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - BAZ1B Ile169Thr I169T not reviewed Insufficiently evaluated not reviewed unknown Array rs73362338 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAZ2A Pro1487Thr P1487T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BAZ2B Ser2024Asn S2024N not reviewed Insufficiently evaluated not reviewed unknown Array rs415793 2277 9512 0.239382 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - BAZ2B Cys1960Tyr C1960Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - BAZ2B Pro530Leu P530L not reviewed Insufficiently evaluated not reviewed unknown Array rs3732287 108 9668 0.0111709 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - BAZ2B Leu422Ser L422S not reviewed Insufficiently evaluated not reviewed unknown Array rs3213790 1291 9424 0.136991 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BBS1 Met390Arg M390R pathogenic Moderate clinical importance, pathogenic recessive Array 19 10758 0.00176613 0 0 0 4 3 2 Y 1 Y 5 Y 0 - 4 Y 1 Y Y Y - - 0.977 Y Y 4 Y Bardet-Biedl Syndrome 22 38 0 96 INF 6 N 10 1 2 This variant is implicated in causing Bardet-Biedl syndrome; found mostly in Europeans, this is the most frequent Bardet-Biedl syndrome mutation. However homozygousity at this locus does not appear to be sufficient for causing the syndrome. Beales et al. supports the need for an additional mutation. Based on their data, we estimate that roughly 1 in 10 individuals homozygous for BBS1 M390R develop Bardet-Biedl Syndrome (which has a ~1:150,000 frequency in the population). BBS1 Arg450Gln R450Q not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.275 Y Y 0 - 3 N - - BBS12 Arg368His R368H not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - BBS12 Arg386Gln R386Q not reviewed Insufficiently evaluated not reviewed unknown Array rs309370 4473 10758 0.415784 38 0 50 0 0 3 Y - - - - - - - - - - Y - - - 0.009 Y Y 0 - 3 - 1 - - BBS12 Val403Met V403M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.349 Y Y 0 - 3 N - - BBS12 Ser429Thr S429T not reviewed Insufficiently evaluated not reviewed unknown Array rs7665271 373 10758 0.0346719 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.361 Y Y -2 - 3 N - - BBS12 Asp467Asn D467N not reviewed Insufficiently evaluated not reviewed unknown Array rs13135778 1844 10758 0.171407 14 0 17 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 2 - - BBS2 Ile123Val I123V not reviewed Insufficiently evaluated not reviewed unknown Array rs11373 2112 10758 0.196319 18 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 6 - - BBS2 Ser70Asn S70N benign Insufficiently evaluated benign unknown Array rs4784677 10698 10758 0.994423 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 3 - - BBS4 Lys46Arg K46R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10756 0.00706582 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -3 - 3 - 2 - - BBS4 Gly250Arg G250R not reviewed Insufficiently evaluated not reviewed unknown Array rs34620165 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.078 Y Y 6 Y 2 N - - BBS4 Ile354Thr I354T not reviewed Insufficiently evaluated not reviewed unknown Array rs2277598 5691 10758 0.529002 32 0 43 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 3 - - BBS5 Thr122Asn T122N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.865 Y Y 1 - 4 N - - BBS7 Asp412Gly D412G pathogenic High clinical importance, Uncertain pathogenic recessive Array 21 10734 0.0019564 1 0 1 1 1 2 Y - - 0 Y 0 Y 5 Y 1 - Y - - - 0.968 Y Y 4 Y 4 N 2 0 Predicted to have damaging effect, other mutations in this gene have been implicated in causing Bardet-Biedl syndrome in a recessive manner. BBS9 Ala455Thr A455T not reviewed Insufficiently evaluated not reviewed unknown Array rs11773504 1859 10758 0.172802 16 0 17 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - BBS9 Pro481Thr P481T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - BBS9 Pro516Thr P516T not reviewed Insufficiently evaluated not reviewed unknown Array rs73688160 137 9506 0.0144119 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.037 - Y 4 Y 1 N - - BBS9 Thr509Ile T509I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - BBS9 Thr514Ile T514I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - BBS9 Thr544Ile T544I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - BBS9 Thr549Ile T549I not reviewed Insufficiently evaluated not reviewed unknown Array rs59252892 110 10754 0.0102288 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.978 - Y 3 - 3 N - - BBX Pro576Ser P576S not reviewed Insufficiently evaluated not reviewed unknown Array rs59781647 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.73 - - 3 - 2 - 2 - - BCAM Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs28399653 320 10676 0.0299738 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 1 - 4 - 3 - - BCAM Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array rs28399654 244 10750 0.0226977 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - BCAM Thr539Ala T539A benign Insufficiently evaluated benign unknown Array rs1135062 3544 10758 0.329429 31 0 36 0 0 1 Y - - - - - - - - - - Y Y - - 0.001 Y - 1 - 3 N - - Auberger blood group polymorphism BCAN Glu504Lys E504K not reviewed Insufficiently evaluated not reviewed unknown Array rs1056695 3620 10738 0.337121 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - BCAN Arg857Leu R857L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - BCAP29 Val285Ile V285I not reviewed Insufficiently evaluated not reviewed unknown Array 174 10734 0.0162102 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BCAR1 Gly568Ser G568S not reviewed Insufficiently evaluated not reviewed unknown Array 176 10748 0.0163751 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCAR1 His558Arg H558R not reviewed Insufficiently evaluated not reviewed unknown Array rs16957552 330 10754 0.0306863 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Arg491Leu R491L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCAR1 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736963 89 10758 0.00827291 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Thr152Ala T152A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Pro135Ala P135A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - BCAR1 Pro76Ser P76S not reviewed Insufficiently evaluated not reviewed unknown Array rs1035539 6178 10738 0.57534 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BCAR3 Asn733Ser N733S not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BCAR3 Glu464Gly E464G not reviewed Insufficiently evaluated not reviewed unknown Array rs12062278 597 10756 0.0555039 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BCAS1 Ser583Pro S583P not reviewed Insufficiently evaluated not reviewed unknown Array rs1055246 1294 10758 0.120283 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - BCAS1 Gln472His Q472H not reviewed Insufficiently evaluated not reviewed unknown Array rs35575210 1530 10758 0.14222 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.686 - - -1 - 0 N - - BCAS1 Thr309Met T309M not reviewed Insufficiently evaluated not reviewed unknown Array rs60878965 1025 10758 0.0952779 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - BCAS1 Gly255Glu G255E not reviewed Insufficiently evaluated not reviewed unknown Array rs6022903 1541 10758 0.143242 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.243 - - 6 Y 0 N - - BCAS1 Val163Ala V163A not reviewed Insufficiently evaluated not reviewed unknown Array rs158551 488 10758 0.0453616 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BCAS1 Gln24Lys Q24K not reviewed Insufficiently evaluated not reviewed unknown Array rs394732 5797 10758 0.538855 45 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - BCAS2 Ala8Gly A8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 1 - 2 N - - BCAS3 Asn87Ser N87S not reviewed Insufficiently evaluated not reviewed unknown Array rs2643103 7826 9716 0.805476 47 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BCAS3 Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array rs34712615 724 9878 0.0732942 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BCAS3 Arg127Lys R127K not reviewed Insufficiently evaluated not reviewed unknown Array rs34431714 184 9636 0.0190951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BCAS3 Glu840Gly E840G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCAS3 Glu855Gly E855G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCAT2 Thr186Arg T186R not reviewed Insufficiently evaluated not reviewed unknown Array rs11548193 1496 10400 0.143846 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.548 Y - 3 - 2 - 1 - - BCDIN3D Ser288Arg S288R not reviewed Insufficiently evaluated not reviewed unknown Array rs11169172 1229 10758 0.114241 21 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BCHE Ala567Thr A567T not reviewed Insufficiently evaluated not reviewed unknown Array rs1803274 2132 10754 0.198252 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BCHE Ile538Thr I538T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCKDHA Gly29Glu G29E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y - - - 0.013 Y Y 6 Y 2 N - - BCKDHA Pro39His P39H not reviewed Insufficiently evaluated not reviewed unknown Array rs34589432 1044 10758 0.0970441 12 0 13 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - BCKDHA Thr151Met T151M not reviewed Insufficiently evaluated not reviewed unknown Array rs34442879 79 10758 0.00734337 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.034 Y Y 2 - 2 N - - BCKDK Ala61Ser A61S not reviewed Insufficiently evaluated not reviewed unknown Array rs73530211 45 10756 0.00418371 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - BCL10 Ala5Ser A5S not reviewed Insufficiently evaluated not reviewed unknown Array rs12037217 222 10758 0.0206358 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.195 - - -1 - 0 N - - BCL11A Leu575Gln L575Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 5 Y 0 N - - BCL2A1 Glu117Asp E117D not reviewed Insufficiently evaluated not reviewed unknown Array rs34080999 399 10758 0.0370887 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BCL2A1 Gly82Asp G82D not reviewed Insufficiently evaluated not reviewed unknown Array rs3826007 2126 10758 0.19762 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 1 N - - BCL2A1 Asn39Lys N39K not reviewed Insufficiently evaluated not reviewed unknown Array rs1138358 3908 10758 0.363265 37 0 47 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - BCL2A1 Cys19Tyr C19Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1138357 2710 10756 0.251952 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BCL2L1 Asn135Lys N135K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCL2L1 Asn198Lys N198K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - BCL2L10 Cys138Trp C138W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10178 0.00186677 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCL2L10 Leu21Arg L21R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231292 3358 8590 0.39092 10 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BCL2L11 Gly86Glu G86E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCL2L12 Gly47Val G47V not reviewed Insufficiently evaluated not reviewed unknown Array rs2060263 569 10756 0.0529007 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.894 - - 8 Y 1 N - - BCL2L12 Glu217Gly E217G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCL2L12 Glu218Gly E218G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - BCL2L13 Ile46Arg I46R not reviewed Insufficiently evaluated not reviewed unknown Array rs2587070 1599 10746 0.1488 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - BCL2L13 Ile55Val I55V not reviewed Insufficiently evaluated not reviewed unknown Array rs16981016 179 10734 0.016676 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - BCL2L13 Pro360Ser P360S not reviewed Insufficiently evaluated not reviewed unknown Array rs9306198 1002 10758 0.09314 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - BCL2L14 Ile22Thr I22T not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 2 N - - BCL2L14 Pro259Thr P259T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738409 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCL2L14 Arg292Trp R292W not reviewed Insufficiently evaluated not reviewed unknown Array rs61739220 480 10758 0.044618 6 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BCL2L15 Asp90Asn D90N not reviewed Insufficiently evaluated not reviewed unknown Array rs1217381 10755 10758 0.999721 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BCL2L2 Gln133Arg Q133R not reviewed Insufficiently evaluated not reviewed unknown Array rs910332 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCL3 Pro93Leu P93L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.567 - - 7 Y 1 N - - BCL6 Ala493Thr A493T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229362 2549 10756 0.236984 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - BCL7A Glu74Lys E74K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 3 - 1 - - BCL9 Val492Leu V492L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCL9 Pro671Ser P671S not reviewed Insufficiently evaluated not reviewed unknown Array rs3820129 3181 10758 0.295687 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BCL9L Val902Ala V902A not reviewed Insufficiently evaluated not reviewed unknown Array rs34123504 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.306 - - 2 - 1 N - - BCL9L Met646Val M646V not reviewed Insufficiently evaluated not reviewed unknown Array rs34752197 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - BCL9L Ser543Gly S543G not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCLAF1 Arg742Cys R742C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BCLAF1 Arg864Cys R864C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - BCLAF1 Arg915Cys R915C not reviewed Insufficiently evaluated not reviewed unknown Array 4255 10758 0.39552 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BCLAF1 Thr715Asn T715N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCLAF1 Thr837Asn T837N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCLAF1 Thr888Asn T888N not reviewed Insufficiently evaluated not reviewed unknown Array rs62431284 5072 10758 0.471463 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.31 - - 1 - 0 N - - BCLAF1 Pro585Thr P585T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCLAF1 Pro756Thr P756T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCLAF1 Pro758Thr P758T not reviewed Insufficiently evaluated not reviewed unknown Array 393 10758 0.036531 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 4 Y 0 N - - BCLAF1 Arg577Leu R577L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCLAF1 Arg748Leu R748L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCLAF1 Arg750Leu R750L not reviewed Insufficiently evaluated not reviewed unknown Array 2194 10758 0.203941 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - BCLAF1 Ser545Arg S545R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 Ser716Arg S716R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 Ser718Arg S718R not reviewed Insufficiently evaluated not reviewed unknown Array 2971 10756 0.276218 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 0 N - - BCLAF1 Arg526His R526H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCLAF1 Arg697His R697H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCLAF1 Arg699His R699H not reviewed Insufficiently evaluated not reviewed unknown Array 4742 10756 0.44087 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.815 - - 1 - 0 N - - BCLAF1 His492Asp H492D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 His663Asp H663D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 His665Asp H665D not reviewed Insufficiently evaluated not reviewed unknown Array 1487 10752 0.1383 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - BCLAF1 Ser461Leu S461L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCLAF1 Ser632Leu S632L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCLAF1 Ser634Leu S634L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - BCLAF1 Arg458Trp R458W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCLAF1 Arg629Trp R629W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCLAF1 Arg631Trp R631W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - BCLAF1 Asn456Ser N456S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCLAF1 Asn627Ser N627S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCLAF1 Asn629Ser N629S not reviewed Insufficiently evaluated not reviewed unknown Array 2083 10758 0.193623 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - BCLAF1 Glu409Asp E409D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BCLAF1 Glu580Asp E580D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BCLAF1 Glu582Asp E582D not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - BCLAF1 Pro495Ser P495S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 Pro497Ser P497S not reviewed Insufficiently evaluated not reviewed unknown Array 382 10758 0.0355085 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - BCLAF1 Leu459His L459H not reviewed Insufficiently evaluated not reviewed unknown Array rs1967445 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCLAF1 Leu461His L461H not reviewed Insufficiently evaluated not reviewed unknown Array rs1967445 62 124 0.5 52 0 51 0 0 - - - - - - - - - - - - - - - - 0.588 - - 6 Y 0 N - - BCLAF1 Tyr457Asp Y457D not reviewed Insufficiently evaluated not reviewed unknown Array rs1967446 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCLAF1 Tyr459Asp Y459D not reviewed Insufficiently evaluated not reviewed unknown Array rs1967446 62 124 0.5 53 0 52 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - BCLAF1 Ser207Cys S207C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 Ser209Cys S209C not reviewed Insufficiently evaluated not reviewed unknown Array rs6940018 63 126 0.5 55 0 54 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 1 N - - BCLAF1 Gly64Ala G64A not reviewed Insufficiently evaluated not reviewed unknown Array rs9942517 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCLAF1 Gly66Ala G66A not reviewed Insufficiently evaluated not reviewed unknown Array rs9942517 64 128 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BCLAF1 Ser19Phe S19F not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BCMO1 Arg267Ser R267S not reviewed Insufficiently evaluated not reviewed unknown Array rs12934922 3832 10758 0.3562 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - BCMO1 Ala379Val A379V not reviewed Insufficiently evaluated not reviewed unknown Array rs7501331 1820 10758 0.169176 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - BCMO1 Arg537Lys R537K not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 0 N - - BCO2 Arg15Gly R15G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCO2 Arg49Gly R49G not reviewed Insufficiently evaluated not reviewed unknown Array rs35361223 385 10758 0.0357873 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCO2 Asn122His N122H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCO2 Asn156His N156H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCO2 Leu197Pro L197P not reviewed Insufficiently evaluated not reviewed unknown Array rs10891338 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCO2 Leu231Pro L231P not reviewed Insufficiently evaluated not reviewed unknown Array rs10891338 10457 10758 0.972021 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BCO2 Pro293Leu P293L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCO2 Pro327Leu P327L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCO2 Ile514Leu I514L not reviewed Insufficiently evaluated not reviewed unknown Array rs2217401 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BCO2 Ile548Leu I548L not reviewed Insufficiently evaluated not reviewed unknown Array rs2217401 10582 10758 0.98364 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BCORL1 Phe111Leu F111L not reviewed Insufficiently evaluated not reviewed unknown Array rs4830173 92 92 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BCR Asn796Ser N796S not reviewed Insufficiently evaluated not reviewed unknown Array rs140504 9432 10758 0.876743 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BCS1L Asp210Asn D210N not reviewed Insufficiently evaluated not reviewed unknown Array rs58447305 715 10758 0.0664622 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 2 - - BDH1 Ala308Gly A308G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - BDH1 Met138Ile M138I not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - BDH1 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60309541 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 0 - 2 N - - BDH2 Asn70Ser N70S not reviewed Insufficiently evaluated not reviewed unknown Array rs1054707 1375 10758 0.127812 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BDKRB2 Arg14Cys R14C not reviewed Insufficiently evaluated not reviewed unknown Array rs1046248 875 10758 0.0813348 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - BDKRB2 Gly354Glu G354E not reviewed Insufficiently evaluated not reviewed unknown Array rs2227279 196 10758 0.018219 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - BDNF Val148Met V148M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6265 1482 10758 0.137758 17 0 21 8 1 - - - - - - - - - - - - - - Y Y - - - 0 - 2 N - - BDNF Val66Met V66M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - - Y - Y - - - 0 - 3 N - - BDNF Val74Met V74M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BDNF Val81Met V81M not reviewed Insufficiently evaluated not reviewed unknown Array rs6265 15 128 0.117188 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BDNF Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BDNF Glu6Lys E6K not reviewed Insufficiently evaluated not reviewed unknown Array rs66866077 6 126 0.047619 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - BDP1 Asp38Glu D38E not reviewed Insufficiently evaluated not reviewed unknown Array rs3748043 7506 9768 0.768427 44 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BDP1 Arg757Cys R757C not reviewed Insufficiently evaluated not reviewed unknown Array rs3761966 2659 9552 0.278371 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BDP1 Val778Met V778M not reviewed Insufficiently evaluated not reviewed unknown Array rs3761967 4320 9552 0.452261 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - BDP1 Gly1122Arg G1122R not reviewed Insufficiently evaluated not reviewed unknown Array 25 9484 0.00263602 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - BDP1 Gly1180Ser G1180S not reviewed Insufficiently evaluated not reviewed unknown Array rs715748 4433 9740 0.455133 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BDP1 Phe1244Ile F1244I not reviewed Insufficiently evaluated not reviewed unknown Array rs1961760 4367 9516 0.458911 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BDP1 Ile1264Met I1264M not reviewed Insufficiently evaluated not reviewed unknown Array rs715747 7386 9532 0.774864 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BDP1 Val1347Met V1347M not reviewed Insufficiently evaluated not reviewed unknown Array rs6886336 7797 9688 0.80481 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BDP1 Lys1469Glu K1469E not reviewed Insufficiently evaluated not reviewed unknown Array rs1698063 4106 9464 0.433855 35 0 47 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - BDP1 Gln1676Glu Q1676E not reviewed Insufficiently evaluated not reviewed unknown Array rs12187098 298 9588 0.0310805 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - BDP1 Ile2013Leu I2013L not reviewed Insufficiently evaluated not reviewed unknown Array rs6453014 7628 9464 0.806002 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BDP1 Asp2020Asn D2020N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.341 - - -1 - 1 N - - BDP1 Ser2026Phe S2026F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BDP1 Lys2321Arg K2321R not reviewed Insufficiently evaluated not reviewed unknown Array rs59354595 394 9718 0.0405433 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.017 - - -3 - 0 N - - BEND2 Val261Gly V261G not reviewed Insufficiently evaluated not reviewed unknown Array 229 8761 0.0261386 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BEND2 Ser183Ile S183I not reviewed Insufficiently evaluated not reviewed unknown Array 229 8761 0.0261386 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.448 - - 5 Y 1 N - - BEND2 Ile169Val I169V not reviewed Insufficiently evaluated not reviewed unknown Array 11 8761 0.00125556 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - BEND2 Phe154Leu F154L not reviewed Insufficiently evaluated not reviewed unknown Array rs17274127 1683 8761 0.192101 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - BEST1 Leu147Ile L147I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - BEST1 Leu207Ile L207I not reviewed Insufficiently evaluated not reviewed unknown Array rs62641693 205 10758 0.0190556 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.536 Y Y -2 - 4 - 2 - - BEST1 Ser583Pro S583P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BEST2 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array 606 10326 0.0586868 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.282 - - 0 - 0 N - - BEST3 Glu409Gly E409G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - BEST3 Glu622Gly E622G not reviewed Insufficiently evaluated not reviewed unknown Array rs17106884 434 9754 0.0444946 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 1 - 2 - - BEST4 Gly274Val G274V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 2 N - - BET1L Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 2 N - - BFAR Tyr38Cys Y38C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - BFAR Met140Arg M140R not reviewed Insufficiently evaluated not reviewed unknown Array rs11546303 3439 10758 0.319669 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BFAR Val315Ile V315I not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BFSP1 Gly345Ser G345S not reviewed Insufficiently evaluated not reviewed unknown Array rs6080719 1854 10620 0.174576 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - BGLAP Arg94Gln R94Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34702397 183 10758 0.0170106 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.189 - - 0 - 1 - 1 - - BHLHA15 Gly24Val G24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BHLHB9 Cys318Arg C318R not reviewed Insufficiently evaluated not reviewed unknown Array 50 8761 0.00570711 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - BHLHE22 Ser28Ala S28A not reviewed Insufficiently evaluated not reviewed unknown Array 3995 10168 0.392899 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BHLHE22 Leu62Gln L62Q not reviewed Insufficiently evaluated not reviewed unknown Array 467 9042 0.0516479 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 1 N - - BHLHE22 Ser134Arg S134R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - BHLHE41 Ala298Val A298V not reviewed Insufficiently evaluated not reviewed unknown Array 641 1954 0.328045 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BHMT Ser133Gly S133G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BHMT Gly199Ser G199S not reviewed Insufficiently evaluated not reviewed unknown Array rs59866108 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 1 - 10 - - BHMT Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3733890 2941 10758 0.273378 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BHMT2 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array rs60158007 173 10756 0.016084 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.564 - - 2 - 1 N - - BICC1 Glu682Asp E682D not reviewed Insufficiently evaluated not reviewed unknown Array 280 10758 0.0260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - BICC1 Ser943Pro S943P not reviewed Insufficiently evaluated not reviewed unknown Array rs4948550 6643 10758 0.617494 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BICC1 Asn945Ser N945S not reviewed Insufficiently evaluated not reviewed unknown Array rs7895817 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 3 - 4 - - BICD1 Thr725Met T725M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BICD1 Pro898Thr P898T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BICD2 Arg463Cys R463C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - BID Met194Thr M194T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BID Met240Thr M240T not reviewed Insufficiently evaluated not reviewed unknown Array rs59225839 36 10758 0.00334635 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BID Met98Thr M98T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BID Ser10Gly S10G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BID Ser56Gly S56G not reviewed Insufficiently evaluated not reviewed unknown Array rs8190315 424 10758 0.0394125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BIN2 Asn529Asp N529D not reviewed Insufficiently evaluated not reviewed unknown Array rs7954976 8638 10758 0.802937 54 0 85 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BIN2 Ser48Asn S48N not reviewed Insufficiently evaluated not reviewed unknown Array rs7312857 1463 10758 0.135992 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BIN3 Thr83Met T83M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10068 9.9324e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - 2 - 2 N - - BIRC3 Lys260Arg K260R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - BIRC3 Arg401Lys R401K not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BIRC5 Lys110Asn K110N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 1 - 2 N - - BIRC5 Lys133Asn K133N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BIRC5 Glu129Lys E129K not reviewed Insufficiently evaluated not reviewed unknown Array rs2071214 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BIRC5 Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array rs2071214 10395 10758 0.966258 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BIRC6 Ser674Ile S674I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BIRC6 Val1332Leu V1332L not reviewed Insufficiently evaluated not reviewed unknown Array rs60197615 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BIRC6 Ile1819Met I1819M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BIRC6 Thr2674Ser T2674S not reviewed Insufficiently evaluated not reviewed unknown Array rs2366894 6728 10286 0.654093 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BIRC6 Gly3850Glu G3850E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BIRC6 Arg4393Gln R4393Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BIRC7 Arg33His R33H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737391 53 10690 0.0049579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 1 - 1 - - BIRC7 Arg60Trp R60W not reviewed Insufficiently evaluated not reviewed unknown Array rs41282996 258 10692 0.0241302 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - BIRC7 His164Arg H164R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737392 361 10754 0.0335689 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 1 - 1 N - - BIRC7 Ala187Gly A187G not reviewed Insufficiently evaluated not reviewed unknown Array rs6011693 263 10756 0.0244515 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BIRC7 Pro204Ser P204S not reviewed Insufficiently evaluated not reviewed unknown Array rs11908302 361 10758 0.0335564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - BIRC7 Glu223Gln E223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1077019 2138 10754 0.19881 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - BIRC8 His196Tyr H196Y not reviewed Insufficiently evaluated not reviewed unknown Array rs8109165 6371 10758 0.59221 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BIRC8 Leu165Ser L165S not reviewed Insufficiently evaluated not reviewed unknown Array rs34092035 421 10758 0.0391337 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BIRC8 Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array rs35880972 747 10758 0.0694367 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BIRC8 Lys129Asn K129N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BLID Ala76Asp A76D not reviewed Insufficiently evaluated not reviewed unknown Array rs7116084 194 10758 0.0180331 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BLK Lys325Thr K325T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.3 - - 3 - 1 N - - BLM Gly34Val G34V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 8 Y 3 - 4 - - BLM Thr298Met T298M not reviewed Insufficiently evaluated not reviewed unknown Array rs28384991 6 10756 0.000557828 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 3 - - BLM Pro868Leu P868L not reviewed Insufficiently evaluated not reviewed unknown Array rs11852361 727 10756 0.0675902 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.595 Y Y 7 Y 3 - 8 - - BLM Ala1043Asp A1043D not reviewed Insufficiently evaluated not reviewed unknown Array rs2229035 43 10752 0.00399926 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 5 Y 2 N - - BLM Val1321Ile V1321I not reviewed Insufficiently evaluated not reviewed unknown Array rs7167216 831 10758 0.0772448 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - BLMH Ile443Val I443V pathogenic Insufficiently evaluated pathogenic unknown Array rs1050565 3065 10758 0.284904 26 0 28 0 0 2 Y 2 Y ! Y 0 - - - - - - Y - - - - - -4 - 2 N - - The exact function of BLMH, a cysteine protease of the papain superfamily, is unknown, but has been associated with increased risk of Alzheimer’s Disease (AD) in non-APOE4 individuals through a homozygous A->G nucleotide exchange. This variant increases the release of the proteolytic fragment, β-amyloid, in amyloid precursor proteins, which is a key event in the pathogenesis of AD. Case control studies studying the 1443V variant reported median prevalence for the A/A + A/G genotypes was 0.86. Increased AD risk with common G/G genotype was seen through higher frequency of the G/G phenotype among AD patients compared with control subjects. Increased risk for AD in individuals homozygous for the G allele confined it to non-APOE4 individuals. Although studies have found contradictory results, the potential important of this variant places it as a novel target for HD therapeutics. BLOC1S2 Ser13Arg S13R not reviewed Insufficiently evaluated not reviewed unknown Array rs33965491 814 10740 0.0757914 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - BLVRA Ala3Thr A3T not reviewed Insufficiently evaluated not reviewed unknown Array rs699512 8834 10758 0.821156 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BLVRA Gln56Arg Q56R not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 3 - 8 - - BLZF1 Gln40Arg Q40R not reviewed Insufficiently evaluated not reviewed unknown Array rs1028180 423 10758 0.0393196 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - BMP1 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array rs73549580 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BMP1 Arg304Trp R304W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - BMP1 Val719Ile V719I not reviewed Insufficiently evaluated not reviewed unknown Array rs11996036 829 10756 0.0770733 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - BMP1 Val817Ala V817A not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 1 N - - BMP2 Ser37Ala S37A not reviewed Insufficiently evaluated not reviewed unknown Array rs2273073 124 10730 0.0115564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - BMP2 Arg190Ser R190S not reviewed Insufficiently evaluated not reviewed unknown Array rs235768 7861 10754 0.730984 53 0 89 0 0 - - - - - - - - - - - - - - - - 0.89 - - 3 - 1 N - - BMP2K Gly405Ser G405S not reviewed Insufficiently evaluated not reviewed unknown Array rs2288255 341 10758 0.0316973 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - BMP2K Thr1002Ser T1002S not reviewed Insufficiently evaluated not reviewed unknown Array rs12507099 657 9890 0.0664307 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - BMP2K Arg1092His R1092H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10060 9.9403e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BMP3 Tyr67Asn Y67N not reviewed Insufficiently evaluated not reviewed unknown Array 219 10754 0.0203645 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - BMP3 Gln176Lys Q176K not reviewed Insufficiently evaluated not reviewed unknown Array rs34213771 116 10758 0.0107827 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 1 - 3 - - BMP3 Arg192Gln R192Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3733549 729 10758 0.0677635 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.334 - - 0 - 0 N - - BMP3 Leu205Phe L205F not reviewed Insufficiently evaluated not reviewed unknown Array rs6831040 10746 10758 0.998885 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - BMP3 Thr222Met T222M not reviewed Insufficiently evaluated not reviewed unknown Array rs34505126 246 10758 0.0228667 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - BMP3 Lys345Asn K345N not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - BMP4 Val152Ala V152A not reviewed Insufficiently evaluated not reviewed unknown Array rs17563 4761 10758 0.442554 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 1 N - - BMP5 Asn121Ser N121S not reviewed Insufficiently evaluated not reviewed unknown Array rs35124644 104 10758 0.00966722 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - BMP6 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array 92 364 0.252747 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BMP8A Met84Val M84V not reviewed Insufficiently evaluated not reviewed unknown Array rs4660269 5718 7352 0.777748 16 0 23 0 0 - - - - - - - - - - - - - - - - 0.395 - - 0 - 0 N - - BMP8A Met106Val M106V not reviewed Insufficiently evaluated not reviewed unknown Array 344 8550 0.0402339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.667 - - 0 - 1 N - - BMP8A Arg293His R293H not reviewed Insufficiently evaluated not reviewed unknown Array rs17403490 2960 10750 0.275349 12 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BMP8B Thr375Ala T375A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 1 - 2 N - - BMP8B Ser276Thr S276T not reviewed Insufficiently evaluated not reviewed unknown Array 3147 10748 0.292799 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BMPER Met158Ile M158I not reviewed Insufficiently evaluated not reviewed unknown Array rs62623441 332 10758 0.0308608 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - BMPER Gly194Ser G194S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.939 - - 2 - 2 N - - BMPR1A Pro2Thr P2T not reviewed Insufficiently evaluated not reviewed unknown Array rs11528010 4230 10758 0.393196 37 0 56 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 6 - - BMPR1A Arg478His R478H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.579 Y Y 1 - 3 N - - BMS1 Phe106Leu F106L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BMS1 Ala518Val A518V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BMS1 Lys652Arg K652R not reviewed Insufficiently evaluated not reviewed unknown Array rs787795 1672 10572 0.158154 25 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BMS1 Val1141Ile V1141I not reviewed Insufficiently evaluated not reviewed unknown Array rs12764004 841 6330 0.132859 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BNC1 His705Asp H705D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 3 - 2 N - - BNC2 Thr782Ala T782A not reviewed Insufficiently evaluated not reviewed unknown Array rs3739714 6 10758 0.000557724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - BNC2 Pro90Leu P90L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 1 - 1 - - BNIP1 Gln14His Q14H not reviewed Insufficiently evaluated not reviewed unknown Array rs5745100 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - -1 - 2 - 4 - - BNIP2 Asp50Ala D50A not reviewed Insufficiently evaluated not reviewed unknown Array 85 2674 0.0317876 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BNIP2 Val42Ala V42A not reviewed Insufficiently evaluated not reviewed unknown Array rs3087328 984 2854 0.344779 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BNIP2 Pro17Leu P17L not reviewed Insufficiently evaluated not reviewed unknown Array rs754641 864 2634 0.328018 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BNIPL Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array rs41266605 240 9740 0.0246407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - BNIPL Arg46Lys R46K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -3 - 2 N - - BNIPL Arg4Cys R4C not reviewed Insufficiently evaluated not reviewed unknown Array rs61751619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BNIPL Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array rs61751619 1090 10758 0.10132 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 1 N - - BNIPL Ser144Asn S144N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BNIPL Ser226Asn S226N not reviewed Insufficiently evaluated not reviewed unknown Array rs12068365 1147 10758 0.106618 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - BOC Arg533Cys R533C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - BOC Gln915His Q915H not reviewed Insufficiently evaluated not reviewed unknown Array rs3814405 509 10758 0.0473136 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.105 - - -1 - 0 N - - BOD1 Arg123Cys R123C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BOD1 Val136Met V136M not reviewed Insufficiently evaluated not reviewed unknown Array 926 10758 0.0860755 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - BOD1L Arg2945His R2945H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - BOD1L Thr2511Pro T2511P not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BOD1L Ala1640Thr A1640T not reviewed Insufficiently evaluated not reviewed unknown Array rs73817502 174 10758 0.016174 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BOD1L Ala1632Pro A1632P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - BOD1L Thr1448Ala T1448A not reviewed Insufficiently evaluated not reviewed unknown Array rs17745676 1635 10758 0.15198 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 1 N - - BOD1L Ala1369Gly A1369G not reviewed Insufficiently evaluated not reviewed unknown Array rs17745712 1683 10758 0.156442 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BOD1L Leu650Ile L650I not reviewed Insufficiently evaluated not reviewed unknown Array rs1971278 7085 10758 0.65858 45 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BOLA1 Gly98Ala G98A not reviewed Insufficiently evaluated not reviewed unknown Array rs1044808 576 10756 0.0535515 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BOLL Gln14Glu Q14E not reviewed Insufficiently evaluated not reviewed unknown Array rs61732251 255 10758 0.0237033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BOLL Gln2Glu Q2E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BPHL Gly6Cys G6C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 10 - - BPHL Leu276Ser L276S not reviewed Insufficiently evaluated not reviewed unknown Array 524 10758 0.0487079 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 6 Y 2 N - - BPI Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array rs5743497 90 10758 0.00836587 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BPI Ala16Val A16V not reviewed Insufficiently evaluated not reviewed unknown Array rs1341023 4611 10758 0.428611 36 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BPI Ala196Val A196V not reviewed Insufficiently evaluated not reviewed unknown Array rs5743509 474 10758 0.0440602 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BPI Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array rs4358188 5287 10758 0.491448 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BPI Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array rs5741804 1082 10758 0.100576 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BPI Pro355Ser P355S not reviewed Insufficiently evaluated not reviewed unknown Array rs5743523 76 10758 0.00706451 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BPI Val377Ile V377I not reviewed Insufficiently evaluated not reviewed unknown Array rs5743524 442 10758 0.0410857 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 6 - - BPI Asn404Asp N404D not reviewed Insufficiently evaluated not reviewed unknown Array rs5741809 608 10758 0.0565161 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BPI Lys451Glu K451E not reviewed Insufficiently evaluated not reviewed unknown Array rs5743542 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - BPIL1 Lys31Met K31M not reviewed Insufficiently evaluated not reviewed unknown Array rs6088066 2248 10756 0.209 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.508 - - 4 Y 0 N - - BPIL1 Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array rs34128772 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BPIL1 Asp359His D359H not reviewed Insufficiently evaluated not reviewed unknown Array rs61734341 405 10758 0.0376464 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - BPIL2 Glu479Ala E479A not reviewed Insufficiently evaluated not reviewed unknown Array rs35856742 726 10758 0.0674847 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 1 - 2 - - BPIL2 Ser451Pro S451P not reviewed Insufficiently evaluated not reviewed unknown Array rs5998478 6809 10758 0.632924 47 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BPIL2 Val302Leu V302L not reviewed Insufficiently evaluated not reviewed unknown Array rs5994570 1698 10758 0.157836 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - BPIL2 Val269Ala V269A not reviewed Insufficiently evaluated not reviewed unknown Array rs2076051 284 10758 0.026399 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BPIL2 Pro262Leu P262L not reviewed Insufficiently evaluated not reviewed unknown Array rs73884913 407 10758 0.0378323 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - BPIL2 Arg148Gln R148Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 1 N - - BPIL2 Met49Leu M49L not reviewed Insufficiently evaluated not reviewed unknown Array 204 10756 0.0189662 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.088 - - -3 - 0 N - - BPIL3 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array rs17301126 10 124 0.0806452 13 0 12 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - BPIL3 Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array rs41293140 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - BPIL3 Val97Ile V97I not reviewed Insufficiently evaluated not reviewed unknown Array rs2070317 69 126 0.547619 43 0 56 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BPIL3 Pro149Thr P149T not reviewed Insufficiently evaluated not reviewed unknown Array rs11907355 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - BPIL3 Ser347Gly S347G not reviewed Insufficiently evaluated not reviewed unknown Array rs4911287 74 128 0.578125 45 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BPIL3 Leu373Gln L373Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73904431 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - BPTF Asp160Glu D160E not reviewed Insufficiently evaluated not reviewed unknown Array 444 10758 0.0412716 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BPTF Lys1093Arg K1093R not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BPTF Lys1219Arg K1219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BPTF Gln1138Glu Q1138E not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BPTF Gln1264Glu Q1264E not reviewed Insufficiently evaluated not reviewed unknown Array rs73995064 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BPTF Glu2608Lys E2608K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BPTF Glu2625Lys E2625K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRAP Arg209Cys R209C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BRCA1 His1813Pro H1813P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA1 His1819Pro H1819P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA1 His1860Pro H1860P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.894 Y Y 5 Y 4 N - - BRCA1 His1881Pro H1881P not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA1 His716Pro H716P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA1 His718Pro H718P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA1 His756Pro H756P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA1 Ile1811Thr I1811T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA1 Ile1817Thr I1817T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA1 Ile1858Thr I1858T pathogenic Insufficiently evaluated pathogenic other Array 0 0 0 1 1 1 Y 0 - 0 Y 0 - 0 - 0 - Y - - - 0.031 Y Y 3 - 2 N - - This variant was found in two siblings with early-onset prostate cancer. The variant was in 1 out of 93 probands, similar to the 1000 genomes at 2.7% frequency (3 out of 112), and so this appears to not be significant. BRCA1 Ile1879Thr I1879T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA1 Ile714Thr I714T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA1 Ile716Thr I716T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA1 Ile754Thr I754T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA1 Ser1566Gly S1566G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - 0.914 Y Y 2 - 4 N - - BRCA1 Ser1572Gly S1572G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.914 Y Y 2 - 4 N - - BRCA1 Ser1613Gly S1613G not reviewed Insufficiently evaluated not reviewed unknown Array rs1799966 37 124 0.298387 23 0 27 0 0 1 Y - - - - - - - - - - Y - - - 0.374 Y Y 2 - 3 - 10 - - BRCA1 Ser1634Gly S1634G not reviewed Insufficiently evaluated not reviewed unknown Array rs1799966 3203 10758 0.297732 3 0 3 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - BRCA1 Ser469Gly S469G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - BRCA1 Ser471Gly S471G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - BRCA1 Ser509Gly S509G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - BRCA1 Lys1136Arg K1136R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - BRCA1 Lys1142Arg K1142R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - BRCA1 Lys1183Arg K1183R not reviewed Insufficiently evaluated not reviewed unknown Array rs16942 3170 10758 0.294664 25 0 29 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 10 - - BRCA1 Glu1038Gly E1038G not reviewed Insufficiently evaluated not reviewed unknown Array rs16941 2989 10758 0.27784 25 0 28 0 0 3 Y - - - - - - - - - - Y - - - 0.462 Y Y 6 Y 3 - 10 - - BRCA1 Glu991Gly E991G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Glu997Gly E997G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Pro824Leu P824L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BRCA1 Pro830Leu P830L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - BRCA1 Pro871Leu P871L not reviewed Insufficiently evaluated not reviewed unknown Array rs799917 5333 10758 0.495724 54 0 80 2 2 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 10 - - While other mutations in BRCA1 are associated with a dramatically increased risk of breast and ovarian cancer, this variant appears to be a polymorphism. BRCA1 Arg341Gly R341G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Arg347Gly R347G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Arg388Gly R388G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - BRCA1 Gln309Arg Q309R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BRCA1 Gln315Arg Q315R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BRCA1 Gln356Arg Q356R benign Low clinical importance, Uncertain benign undefined Array rs1799950 498 10758 0.0462911 2 0 3 2 2 ! Y - - 0 Y - - - - - - Y - - - 0.996 Y Y 0 - BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer 79 393 257 2203 1.723 5 - 10 0 0 One common variant associated this variant with an increased risk of breast cancer, but a more recent, larger study found no association. BRCA2 Asn289His N289H not reviewed Insufficiently evaluated not reviewed unknown Array rs766173 312 10746 0.0290341 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - BRCA2 Asn372His N372H pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs144848 2517 10640 0.23656 22 0 22 2 1 0 Y - - 2 Y 0 - 4 Y 3 Y Y Y - - - Y Y 0 - 4 N 10 0 0 This is a common variant of BRCA2 (HapMap allele frequency of 23%). The variant is weakly associated with an increased chance of breast cancer, and zygosity of the variant is associated with sex of children: male children are more likely to be homozygous for this variant, female children are more likely to be heterozygous. BRCA2 Ile411Thr I411T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA2 Asn991Asp N991D not reviewed Insufficiently evaluated not reviewed unknown Array rs1799944 376 10744 0.0349963 7 0 7 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 4 - 10 - - BRCA2 Thr1414Met T1414M not reviewed Insufficiently evaluated not reviewed unknown Array 24 10692 0.00224467 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 5 - - BRCA2 Asp1902Asn D1902N not reviewed Insufficiently evaluated not reviewed unknown Array rs4987048 66 10756 0.00613611 2 0 3 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 4 - 6 - - BRCA2 Thr1915Met T1915M protective Low clinical importance, Uncertain protective unknown Array rs4987117 221 10758 0.0205429 3 0 2 1 1 - - - - 2 Y - - - - - - Y - - - - Y Y 2 - 4 - 10 0 0 Serrano-Fernández et al. found this variant to be associated with a modest (OR = 1.61) but significant (P = 0.0007) reduction in breast cancer risk. BRCA2 Ile1929Val I1929V not reviewed Insufficiently evaluated not reviewed dominant Array 1 10756 9.2971e-05 0 0 0 3 3 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 3 - - This variant has been associated with six cancer cases in the East Asian populations, but it was also reported in one control and one benign breast cancer case. In the literature it is of unknown significance. BRCA2 Val2010Gly V2010G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 2 - - BRCA2 Val2109Ile V2109I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 4 - - BRCA2 His2116Arg H2116R not reviewed Insufficiently evaluated not reviewed dominant Array rs55953736 38 10752 0.00353423 3 0 3 2 2 3 Y - - - - 1 Y - - - - Y - - - - Y Y 1 - 4 - 8 - - Associated with cancer in an African American family. BRCA2 Ser2213Phe S2213F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - BRCA2 Lys2339Asn K2339N not reviewed Insufficiently evaluated not reviewed unknown Array 87 10754 0.00809001 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 5 - - BRCA2 His2440Arg H2440R not reviewed Insufficiently evaluated not reviewed unknown Array 114 10756 0.0105987 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 4 - - BRCA2 Val2466Ala V2466A benign Insufficiently evaluated benign dominant Array rs169547 10511 10754 0.977404 51 0 99 2 2 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - The valine variant was associated with ovarian cancer in one patient, but was later reported as a benign polymorphism in the Yoruba population. BRCA2 Ala2534Val A2534V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - BRCA2 Ile2944Phe I2944F not reviewed Insufficiently evaluated not reviewed unknown Array rs4987047 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - BRCA2 Val2969Met V2969M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 6 - - BRCA2 Val3244Ile V3244I not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 3 - - BRCA2 Asn3329Ser N3329S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BRD1 Ala730Thr A730T not reviewed Insufficiently evaluated not reviewed unknown Array rs35331092 816 10758 0.0758505 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BRD2 Ala474Val A474V not reviewed Insufficiently evaluated not reviewed unknown Array rs3918143 165 7518 0.0219473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BRD3 Lys435Gln K435Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36093130 128 10752 0.0119048 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.897 - - -2 - 3 - 2 - - BRD4 Arg1097His R1097H not reviewed Insufficiently evaluated not reviewed unknown Array rs35676845 142 10758 0.0131995 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRD4 Gly631Ser G631S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 2 N - - BRD7 Ser153Gly S153G not reviewed Insufficiently evaluated not reviewed unknown Array rs73581682 11 10756 0.00102268 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 0 N - - BRD8 Gln1198Arg Q1198R not reviewed Insufficiently evaluated not reviewed unknown Array rs412051 10539 10758 0.979643 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BRD8 Leu956Phe L956F not reviewed Insufficiently evaluated not reviewed unknown Array rs59676375 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - BRD8 Thr384Met T384M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BRD8 Thr490Met T490M not reviewed Insufficiently evaluated not reviewed unknown Array rs11750814 1581 10758 0.14696 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 0 N - - BRD8 Thr563Met T563M not reviewed Insufficiently evaluated not reviewed unknown Array rs11750814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BRD8 Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - BRD9 Met290Leu M290L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRD9 Met353Leu M353L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRD9 Met406Leu M406L not reviewed Insufficiently evaluated not reviewed unknown Array 2444 10758 0.22718 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - -3 - 0 N - - BRD9 Asp284Asn D284N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BRD9 Asp347Asn D347N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.477 - - -1 - 1 N - - BRD9 Asp400Asn D400N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - -1 - 0 N - - BRD9 Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array rs34292369 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - BRD9 Ala213Thr A213T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - BRD9 Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array 526 10758 0.0488938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - BRDT Gln62Lys Q62K not reviewed Insufficiently evaluated not reviewed unknown Array rs10783071 9202 10758 0.855363 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BRDT Lys238Asn K238N not reviewed Insufficiently evaluated not reviewed unknown Array rs1156281 919 10758 0.0854248 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BRDT Asn410Lys N410K not reviewed Insufficiently evaluated not reviewed unknown Array rs3088232 1955 10758 0.181725 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BRDT Pro696Leu P696L not reviewed Insufficiently evaluated not reviewed unknown Array rs10747493 8335 10746 0.775637 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BRF2 Pro419Leu P419L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - BRI3 Asp22Asn D22N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -1 - 0 N - - BRI3BP Lys93Glu K93E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - BRIP1 Ser919Pro S919P not reviewed Insufficiently evaluated not reviewed unknown Array rs4986764 6583 10758 0.611917 49 0 79 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 5 - - BRMS1 Ala273Val A273V not reviewed Insufficiently evaluated not reviewed unknown Array rs1052566 2380 10754 0.221313 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BRP44L Thr101Met T101M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BRPF3 Ser177Gly S177G not reviewed Insufficiently evaluated not reviewed unknown Array rs45504893 588 10758 0.054657 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - BRSK1 Asp376Gly D376G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BRSK1 Asp376Glu D376E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BRSK2 Pro434Leu P434L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.489 - - 7 Y 1 N - - BRSK2 Gly578Ala G578A not reviewed Insufficiently evaluated not reviewed unknown Array 68 10110 0.00672601 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 1 - 1 - - BRUNOL5 Ile163Thr I163T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BRUNOL5 Ile277Thr I277T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BRWD1 Met2225Ile M2225I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - -1 - 1 N - - BRWD1 Thr2050Ala T2050A not reviewed Insufficiently evaluated not reviewed unknown Array rs73357824 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BRWD1 Leu1699Pro L1699P not reviewed Insufficiently evaluated not reviewed unknown Array rs1041439 10173 10758 0.945622 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BRWD1 Glu1529Lys E1529K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRWD1 Ser1511Pro S1511P not reviewed Insufficiently evaluated not reviewed unknown Array rs2183573 6457 10756 0.600316 39 0 57 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 0 N - - BRWD1 Met670Ile M670I not reviewed Insufficiently evaluated not reviewed unknown Array rs73359523 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - -1 - 1 N - - BRWD1 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array rs73903910 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - BRWD1 Gln83Glu Q83E not reviewed Insufficiently evaluated not reviewed unknown Array rs2056844 4940 10758 0.459193 36 0 47 0 0 - - - - - - - - - - - - - - - - 0.503 - - -2 - 0 N - - BRWD3 Lys1288Arg K1288R not reviewed Insufficiently evaluated not reviewed unknown Array rs3122407 8668 8761 0.989385 53 0 105 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BRWD3 Asn695Lys N695K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 1 - 2 N - - BSG Ala90Gly A90G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 1 - 3 - 5 - - BSN Ala741Thr A741T not reviewed Insufficiently evaluated not reviewed unknown Array rs34762726 3125 10756 0.290536 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 0 N - - BSN Ile1703Val I1703V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - BSN Gly2002Ala G2002A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - BSN Ala3863Thr A3863T not reviewed Insufficiently evaluated not reviewed unknown Array rs2005557 5216 10758 0.484848 35 0 50 0 0 - - - - - - - - - - - - - - - - 0.235 - - 1 - 0 N - - BSND Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array rs34561376 472 10758 0.0438743 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 6 - - BSPRY Gln293His Q293H not reviewed Insufficiently evaluated not reviewed unknown Array rs818711 431 10204 0.0422383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.292 - - -1 - 2 - 4 - - BSPRY Thr374Ile T374I not reviewed Insufficiently evaluated not reviewed unknown Array rs3088235 1425 9942 0.143331 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 0 N - - BST1 Gly36Ala G36A not reviewed Insufficiently evaluated not reviewed unknown Array rs2302468 27 9280 0.00290948 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 1 - 0 N - - BST1 Ile101Val I101V not reviewed Insufficiently evaluated not reviewed unknown Array rs6840615 329 10758 0.0305819 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.399 - - -4 - 1 N - - BST1 Arg125His R125H not reviewed Insufficiently evaluated not reviewed unknown Array rs2302465 976 10758 0.0907232 9 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - BST1 Arg145Gln R145Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302464 359 10758 0.0333705 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - BTAF1 Glu362Stop E362X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BTBD1 Met208Val M208V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - BTBD10 Thr145Ala T145A not reviewed Insufficiently evaluated not reviewed unknown Array rs34185489 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - BTBD11 Gly265Ala G265A not reviewed Insufficiently evaluated not reviewed unknown Array rs961498 3006 8332 0.360778 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BTBD11 Ala327Thr A327T not reviewed Insufficiently evaluated not reviewed unknown Array 3617 8532 0.423933 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BTBD11 Gly448Ser G448S not reviewed Insufficiently evaluated not reviewed unknown Array rs1558781 1583 10756 0.147174 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - BTBD11 Ala1044Thr A1044T not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - BTBD11 Ala581Thr A581T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD11 Gly1076Ser G1076S not reviewed Insufficiently evaluated not reviewed unknown Array rs12303478 1268 10758 0.117866 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - BTBD11 Gly613Ser G613S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD12 Asn1834Ser N1834S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTBD12 Ser1716Thr S1716T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTBD12 Gly1534Ser G1534S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD12 Pro1470Leu P1470L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BTBD12 Arg1372Gln R1372Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTBD12 Ser1271Phe S1271F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 6 - - BTBD12 Ala1221Val A1221V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD12 Lys1167Arg K1167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BTBD12 Pro1122Leu P1122L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BTBD12 Ala952Val A952V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD12 Ala952Thr A952T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD12 Ala916Ser A916S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BTBD12 Glu701Asp E701D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTBD12 Leu671Ser L671S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTBD12 Gly633Asp G633D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTBD12 Ser601Leu S601L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - BTBD12 Asn457Lys N457K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD12 Arg204Cys R204C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTBD12 Gly141Val G141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTBD16 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11200524 241 10758 0.0224019 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.163 - - 0 - 0 N - - BTBD16 Arg318Gln R318Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2421013 5900 10758 0.548429 51 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BTBD16 Gly331Asp G331D not reviewed Insufficiently evaluated not reviewed unknown Array rs986178 984 10758 0.0914668 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.24 - - 4 Y 0 N - - BTBD16 His439Pro H439P not reviewed Insufficiently evaluated not reviewed unknown Array rs1048347 3643 10758 0.338632 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BTBD16 Gln472Arg Q472R not reviewed Insufficiently evaluated not reviewed unknown Array rs10510108 243 10758 0.0225878 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 3 - 3 - - BTBD17 Ala163Glu A163E not reviewed Insufficiently evaluated not reviewed unknown Array rs11547807 880 9706 0.0906656 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - BTBD7 Ser1087Ala S1087A not reviewed Insufficiently evaluated not reviewed unknown Array rs36099812 635 10758 0.0590258 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BTBD7 Gln355Leu Q355L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - BTBD8 Cys21Arg C21R not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - BTC Leu124Met L124M not reviewed Insufficiently evaluated not reviewed unknown Array rs11938093 2831 10758 0.263153 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.777 - - -3 - 0 N - - BTC Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array rs56320257 389 10758 0.0361591 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.588 - - 0 - 2 - 10 - - BTC Cys7Gly C7G not reviewed Insufficiently evaluated not reviewed unknown Array rs28549760 1537 8208 0.187256 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - BTD Ala171Thr A171T pathogenic Moderate clinical importance, Likely pathogenic recessive Array 3 10758 0.000278862 0 0 0 5 4 1 Y 1 Y 5 Y 0 - 4 Y 5 Y Y - - - 0.997 Y Y 1 - Biotinidase Deficiency 14 31 0 376 INF 5 - 10 1 1 This variant, which has always been reported as occurring with the D444H variant, is implicated in causing biotinidase deficiency. The double-mutant appears to abolish enzyme activity, but there is a report of homozygous asymptomatic adults with profound biotinidase deficiency (symptoms may depend on additional factors). This double-variant (A171T and D444H) has been observed to cause deficiency in a compound heterozygous fashion when paired with another, more severe mutation. BTD Asp444His D444H pathogenic Low clinical importance, pathogenic recessive Array rs13078881 321 10758 0.0298383 8 0 8 6 6 3 Y 1 Y 5 Y 0 - 3 Y 5 Y Y - - - 0.992 Y Y 3 - Biotinidase Deficiency 14 31 23 296 5.812 5 - 10 0 2 This variant is implicated in partial and profound biotinidase deficiency. Alone, this variant is estimated to have a 52% loss of enzymatic activity. This variant is often found with A171T, and together they are reported to cause profound deficiency. Notably there is a report of asymptomatic double-mutant adults, so symptoms may have variable penetrance. This variant is found compound heterozygously with more serious mutations in cases of partial biotinidase deficiency. BTLA Pro219Leu P219L not reviewed Insufficiently evaluated not reviewed unknown Array rs9288952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BTLA Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array rs9288952 7820 10758 0.726901 40 0 65 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BTLA Arg157Ser R157S not reviewed Insufficiently evaluated not reviewed unknown Array rs2931761 10657 10758 0.990612 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BTN1A1 Ala213Thr A213T not reviewed Insufficiently evaluated not reviewed unknown Array rs3736781 5215 10758 0.484756 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BTN1A1 Glu292Asp E292D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTN1A1 Asn449Ser N449S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732158 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN1A1 Asp503Glu D503E not reviewed Insufficiently evaluated not reviewed unknown Array rs9393728 5223 10758 0.485499 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BTN1A1 Pro521Ser P521S not reviewed Insufficiently evaluated not reviewed unknown Array rs35555795 808 10752 0.0751488 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BTN2A1 Arg124Cys R124C not reviewed Insufficiently evaluated not reviewed unknown Array rs3734539 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - BTN2A1 Trp178Leu W178L not reviewed Insufficiently evaluated not reviewed unknown Array rs13195401 684 10758 0.0635806 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 1 N - - BTN2A1 Trp178Cys W178C not reviewed Insufficiently evaluated not reviewed unknown Array rs13195402 680 10758 0.0632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - BTN2A1 Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array rs13195509 818 10758 0.0760364 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - BTN2A1 Arg378Gln R378Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3734542 819 10758 0.0761294 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - BTN2A1 Gly451Ala G451A not reviewed Insufficiently evaluated not reviewed unknown Array rs3734543 818 10758 0.0760364 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.229 - - 1 - 0 N - - BTN2A1 Glu513Stop E513X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BTN2A2 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array rs73736234 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTN2A2 Pro39Ala P39A not reviewed Insufficiently evaluated not reviewed unknown Array rs57038103 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - BTN2A2 Gly203Ser G203S not reviewed Insufficiently evaluated not reviewed unknown Array rs62617839 630 10758 0.0585611 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - BTN2A2 Gly87Ser G87S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTN2A2 Tyr344Cys Y344C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTN2A2 Tyr460Cys Y460C not reviewed Insufficiently evaluated not reviewed unknown Array 29 10752 0.00269717 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - BTN2A2 Lys397Thr K397T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTN2A2 Lys513Thr K513T not reviewed Insufficiently evaluated not reviewed unknown Array rs73736249 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTN2A3 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array rs55775018 18 122 0.147541 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 1 N - - BTN2A3 Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BTN2A3 Gly79Asp G79D not reviewed Insufficiently evaluated not reviewed unknown Array rs7745238 21 128 0.164062 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 1 N - - BTN2A3 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array rs10946829 21 128 0.164062 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - BTN2A3 Asn300Ser N300S not reviewed Insufficiently evaluated not reviewed unknown Array rs2893848 21 128 0.164062 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - BTN2A3 Ile420Val I420V not reviewed Insufficiently evaluated not reviewed unknown Array rs45499696 20 126 0.15873 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - BTN3A1 Phe9Leu F9L not reviewed Insufficiently evaluated not reviewed unknown Array rs55676749 198 10758 0.0184049 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - BTN3A1 Arg15His R15H not reviewed Insufficiently evaluated not reviewed unknown Array rs56161420 1888 10758 0.175497 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - BTN3A1 Arg230Thr R230T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTN3A1 Arg282Thr R282T not reviewed Insufficiently evaluated not reviewed unknown Array rs41266839 650 10758 0.0604202 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BTN3A1 Pro404Thr P404T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTN3A1 Pro456Thr P456T not reviewed Insufficiently evaluated not reviewed unknown Array rs4712990 1348 10758 0.125302 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - BTN3A2 Arg167Thr R167T not reviewed Insufficiently evaluated not reviewed unknown Array rs9379861 113 10758 0.0105038 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.738 - - 3 - 1 N - - BTN3A2 Asn181Asp N181D not reviewed Insufficiently evaluated not reviewed unknown Array rs71544290 908 10758 0.0844023 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BTN3A2 Arg211Lys R211K not reviewed Insufficiently evaluated not reviewed unknown Array rs35183513 1439 10758 0.133761 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - BTN3A2 Ser307Asn S307N not reviewed Insufficiently evaluated not reviewed unknown Array rs13216828 897 10758 0.0833798 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - BTN3A3 Ser284Thr S284T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTN3A3 Ser326Thr S326T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - BTN3A3 Ser284Tyr S284Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BTN3A3 Ser326Tyr S326Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - BTNL2 Gly454Cys G454C not reviewed Insufficiently evaluated not reviewed unknown Array rs28362675 62 10758 0.00576315 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - BTNL2 Met380Ile M380I not reviewed Insufficiently evaluated not reviewed unknown Array rs28362677 1457 10758 0.135434 24 0 25 0 0 - - - - - - - - - - - - - - - - 0.225 - - -1 - 0 N - - BTNL2 Pro379Leu P379L not reviewed Insufficiently evaluated not reviewed unknown Array rs28362678 1457 10758 0.135434 24 0 25 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - BTNL2 Ser360Gly S360G not reviewed Insufficiently evaluated not reviewed unknown Array rs2076530 2945 7518 0.391727 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BTNL2 Asp336Asn D336N not reviewed Insufficiently evaluated not reviewed unknown Array rs41441651 46 7520 0.00611702 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - BTNL2 Arg281Lys R281K not reviewed Insufficiently evaluated not reviewed unknown Array rs41355746 45 7522 0.00598245 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - BTNL2 Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array rs28362680 779 7524 0.103535 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BTNL2 Lys196Glu K196E not reviewed Insufficiently evaluated not reviewed unknown Array rs2076523 2584 7524 0.343434 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BTNL2 Val188Met V188M not reviewed Insufficiently evaluated not reviewed unknown Array 41 7520 0.00545213 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 3 - - BTNL2 Arg181Gln R181Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28362681 677 7518 0.0900505 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BTNL2 Thr165Ile T165I not reviewed Insufficiently evaluated not reviewed unknown Array rs78587369 46 7514 0.00612191 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.914 - - 3 - 2 N - - BTNL2 Ser149Asn S149N not reviewed Insufficiently evaluated not reviewed unknown Array rs60263670 726 7512 0.0966454 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - BTNL2 Trp94Arg W94R not reviewed Insufficiently evaluated not reviewed unknown Array rs28362682 676 7524 0.0898458 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BTNL2 Val63Ala V63A not reviewed Insufficiently evaluated not reviewed unknown Array 1 7524 0.000132908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - BTNL3 Val131Ala V131A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTNL3 Ser203Thr S203T not reviewed Insufficiently evaluated not reviewed unknown Array 212 9860 0.021501 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTNL3 Gly365Trp G365W not reviewed Insufficiently evaluated not reviewed unknown Array 1075 10700 0.100467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BTNL3 Ser397Arg S397R not reviewed Insufficiently evaluated not reviewed unknown Array 1156 10066 0.114842 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BTNL3 Pro399Ala P399A not reviewed Insufficiently evaluated not reviewed unknown Array 1147 9990 0.114815 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BTNL3 Gln426Glu Q426E not reviewed Insufficiently evaluated not reviewed unknown Array 1125 9788 0.114937 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BTNL8 Thr143Ala T143A not reviewed Insufficiently evaluated not reviewed unknown Array rs2276995 5032 10750 0.468093 41 0 58 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - BTNL8 Thr18Ala T18A not reviewed Insufficiently evaluated not reviewed unknown Array rs2276995 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTNL8 Thr27Ala T27A not reviewed Insufficiently evaluated not reviewed unknown Array rs2276995 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTNL8 Glu104Lys E104K not reviewed Insufficiently evaluated not reviewed unknown Array rs7724813 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTNL8 Glu113Lys E113K not reviewed Insufficiently evaluated not reviewed unknown Array rs7724813 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTNL8 Glu229Lys E229K not reviewed Insufficiently evaluated not reviewed unknown Array rs7724813 2720 10750 0.253023 24 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BTNL8 Glu45Lys E45K not reviewed Insufficiently evaluated not reviewed unknown Array rs7724813 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTNL8 Gly311Arg G311R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTNL8 Arg319Cys R319C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTNL8 Arg326Cys R326C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTNL8 Ala293Thr A293T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTNL8 Ala352Thr A352T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTNL8 Ala361Thr A361T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTNL8 Ala477Thr A477T not reviewed Insufficiently evaluated not reviewed unknown Array 2395 9248 0.258975 19 0 26 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BTNL9 Gly511Arg G511R not reviewed Insufficiently evaluated not reviewed unknown Array rs10068763 7830 10752 0.728237 28 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BTRC Ala507Ser A507S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 8 - - BTRC Ala543Ser A543S not reviewed Insufficiently evaluated not reviewed unknown Array 381 10758 0.0354155 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 7 - - BUB1 Leu1044Pro L1044P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 7 Y 0 N - - BUB1 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - BUB1B Arg349Gln R349Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1801376 7919 10758 0.736103 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BUB1B Glu390Asp E390D not reviewed Insufficiently evaluated not reviewed unknown Array rs1017842 427 10758 0.0396914 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BUB1B Val618Ala V618A not reviewed Insufficiently evaluated not reviewed unknown Array rs1801528 976 10758 0.0907232 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BUD13 Arg253Gly R253G not reviewed Insufficiently evaluated not reviewed unknown Array rs73588409 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - BUD13 Pro148Leu P148L not reviewed Insufficiently evaluated not reviewed unknown Array rs11820589 1101 10756 0.102361 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.07 - - 7 Y 0 N - - BUD13 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array rs10488698 416 10752 0.0386905 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BUD13 Lys37Glu K37E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - BUD13 Ala22Ser A22S not reviewed Insufficiently evaluated not reviewed unknown Array rs35585096 261 10628 0.0245578 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 1 - 1 - - BVES Leu281Pro L281P not reviewed Insufficiently evaluated not reviewed unknown Array rs41285458 72 10758 0.00669269 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BVES Arg129Trp R129W not reviewed Insufficiently evaluated not reviewed unknown Array rs2275289 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.482 - - 7 Y 2 - 3 - - BVES Met127Ile M127I not reviewed Insufficiently evaluated not reviewed unknown Array rs9486039 167 10758 0.0155233 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - BXDC2 Ile336Ser I336S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BXDC5 Ser9Gly S9G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BXDC5 Met223Ile M223I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BXDC5 Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BYSL Glu103Lys E103K not reviewed Insufficiently evaluated not reviewed unknown Array rs2296916 854 10758 0.0793828 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.256 - - 0 - 0 N - - BYSL Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array rs36124188 203 10758 0.0188697 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BYSL Arg368Gln R368Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34658276 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.522 - - 0 - 1 N - - BYSL Pro426Ser P426S not reviewed Insufficiently evaluated not reviewed unknown Array rs3828855 1095 10758 0.101785 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BZRAP1 Gly1770Glu G1770E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - BZRAP1 Gly1830Glu G1830E not reviewed Insufficiently evaluated not reviewed unknown Array rs2301868 302 10758 0.0280721 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.204 - - 6 Y 2 - 5 - - BZRAP1 His1668Arg H1668R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BZRAP1 His1728Arg H1728R not reviewed Insufficiently evaluated not reviewed unknown Array rs11079346 3179 10642 0.298722 34 0 41 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - BZRAP1 Ala1080Pro A1080P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BZRAP1 Ala1140Pro A1140P not reviewed Insufficiently evaluated not reviewed unknown Array rs2680704 2822 10610 0.265976 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BZRAP1 His1058Leu H1058L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BZRAP1 His1118Leu H1118L not reviewed Insufficiently evaluated not reviewed unknown Array rs3744099 529 10732 0.0492918 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - BZRAP1 Trp791Arg W791R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BZRAP1 Trp851Arg W851R not reviewed Insufficiently evaluated not reviewed unknown Array rs9905604 1012 10740 0.0942272 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BZRAP1 Gln757Arg Q757R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - BZRAP1 Gln817Arg Q817R not reviewed Insufficiently evaluated not reviewed unknown Array rs9913145 1561 10754 0.145155 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BZRAP1 Ala585Gly A585G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BZRAP1 Ala645Gly A645G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739511 476 10758 0.0442461 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - 1 - 1 N - - BZRAP1 Ala526Thr A526T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - BZRAP1 Ala586Thr A586T not reviewed Insufficiently evaluated not reviewed unknown Array rs2072147 461 10756 0.0428598 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - BZRAP1 Glu318Lys E318K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BZRAP1 Glu378Lys E378K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 0 - 2 N - - BZRAP1 Ala226Thr A226T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - 1 - 1 N - - BZRAP1 Phe118Val F118V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732577 186 10758 0.0172895 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - BZW1 Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF11 Ser153Phe S153F not reviewed Insufficiently evaluated not reviewed unknown Array rs35349706 455 10758 0.0422941 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF111 Val110Phe V110F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF111 Arg70Lys R70K not reviewed Insufficiently evaluated not reviewed unknown Array rs7896053 2855 10758 0.265384 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C10ORF111 Lys65Met K65M not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF111 Gly21Val G21V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF113 Asp100His D100H not reviewed Insufficiently evaluated not reviewed unknown Array rs625223 4583 10758 0.426009 44 0 55 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF113 Arg62Gly R62G not reviewed Insufficiently evaluated not reviewed unknown Array rs11591355 1107 10756 0.102919 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C10ORF114 Arg98Leu R98L not reviewed Insufficiently evaluated not reviewed unknown Array 122 10744 0.0113552 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF114 Arg16Pro R16P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF118 Gln271Lys Q271K not reviewed Insufficiently evaluated not reviewed unknown Array rs7095762 2832 10758 0.263246 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C10ORF118 Arg179Gln R179Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12782946 675 10754 0.0627673 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - C10ORF118 Thr85Ile T85I not reviewed Insufficiently evaluated not reviewed unknown Array rs1061159 2833 10758 0.263339 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF12 Asn49Ser N49S not reviewed Insufficiently evaluated not reviewed unknown Array rs11188980 27 10758 0.00250976 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF12 Glu299Gly E299G not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF12 Ile535Leu I535L not reviewed Insufficiently evaluated not reviewed unknown Array rs3829856 713 10756 0.0662886 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C10ORF120 Ala269Thr A269T not reviewed Insufficiently evaluated not reviewed unknown Array rs2947594 8498 10758 0.789924 54 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF120 Arg96Ser R96S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF120 Arg59Trp R59W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF120 Ser38Tyr S38Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61910686 323 10758 0.0300242 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF120 Thr20Lys T20K not reviewed Insufficiently evaluated not reviewed unknown Array rs41448048 629 10758 0.0584681 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF128 Pro83Leu P83L not reviewed Insufficiently evaluated not reviewed unknown Array rs12257132 627 10188 0.061543 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C10ORF128 Asp67His D67H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10238 0.00166048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF128 Val16Ala V16A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748312 279 9792 0.0284926 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF129 Glu19Gly E19G not reviewed Insufficiently evaluated not reviewed unknown Array rs591157 1768 3234 0.546691 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C10ORF129 Cys40Ser C40S not reviewed Insufficiently evaluated not reviewed unknown Array rs11188225 1000 3234 0.309215 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF129 Lys227Arg K227R not reviewed Insufficiently evaluated not reviewed unknown Array rs7090248 541 10758 0.0502882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C10ORF131 Ser110Cys S110C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF137 Ala1083Thr A1083T not reviewed Insufficiently evaluated not reviewed unknown Array rs17153510 619 10758 0.0575386 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF140 Ile571Asn I571N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF140 Ala518Val A518V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF141 Pro448Thr P448T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF141 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF141 Ala147Val A147V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF18 Thr320Ser T320S not reviewed Insufficiently evaluated not reviewed unknown Array 43 9838 0.00437081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF18 Cys499Gly C499G not reviewed Insufficiently evaluated not reviewed unknown Array rs2254067 8149 9634 0.845858 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C10ORF18 Ala630Asp A630D not reviewed Insufficiently evaluated not reviewed unknown Array rs4748636 105 9822 0.0106903 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - C10ORF18 Ser724Tyr S724Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56856085 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - C10ORF18 Ile807Val I807V not reviewed Insufficiently evaluated not reviewed unknown Array rs45575338 1574 9640 0.163278 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C10ORF18 Cys914Tyr C914Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 9496 0.00410699 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF18 Arg1075Pro R1075P not reviewed Insufficiently evaluated not reviewed unknown Array rs2797491 8384 9938 0.84363 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C10ORF18 Ala1165Val A1165V not reviewed Insufficiently evaluated not reviewed unknown Array 115 9814 0.011718 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF18 Val1345Gly V1345G not reviewed Insufficiently evaluated not reviewed unknown Array 42 9616 0.00436772 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF18 Val1679Ala V1679A not reviewed Insufficiently evaluated not reviewed unknown Array rs2669142 10365 10586 0.979123 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF18 Thr1782Ile T1782I not reviewed Insufficiently evaluated not reviewed unknown Array rs11593253 44 9688 0.0045417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - C10ORF18 Lys2288Arg K2288R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275774 1375 9748 0.141055 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C10ORF18 Ile2370Val I2370V not reviewed Insufficiently evaluated not reviewed unknown Array rs41290259 147 9698 0.0151578 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF18 Ser2404Asn S2404N not reviewed Insufficiently evaluated not reviewed unknown Array rs2797501 8082 9368 0.862724 53 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF2 Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array rs17113613 590 10758 0.0548429 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 4 - - C10ORF25 Ile63Asn I63N not reviewed Insufficiently evaluated not reviewed unknown Array rs12269028 5798 10758 0.538948 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C10ORF25 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array rs41301609 535 10758 0.0497304 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF25 Trp42Cys W42C not reviewed Insufficiently evaluated not reviewed unknown Array rs73283470 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF26 Thr26Arg T26R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF26 Thr47Arg T47R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF26 Ser302Pro S302P not reviewed Insufficiently evaluated not reviewed unknown Array rs284860 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF26 Ser323Pro S323P not reviewed Insufficiently evaluated not reviewed unknown Array rs284860 6154 10758 0.572039 43 0 57 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF26 Ala320Ser A320S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF26 Ala341Ser A341S not reviewed Insufficiently evaluated not reviewed unknown Array rs284859 1388 10748 0.12914 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C10ORF27 Ile326Thr I326T not reviewed Insufficiently evaluated not reviewed unknown Array rs58275320 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF27 Arg237Gln R237Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2254174 9298 10758 0.864287 53 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF27 Leu224Phe L224F not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF27 Pro37Thr P37T not reviewed Insufficiently evaluated not reviewed unknown Array rs73280127 7 10758 0.000650678 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF28 Glu457Lys E457K not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF28 Ile507Leu I507L not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF28 Asp535Ala D535A not reviewed Insufficiently evaluated not reviewed unknown Array rs34494334 2187 10758 0.203291 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C10ORF28 Pro546Ser P546S not reviewed Insufficiently evaluated not reviewed unknown Array rs35122894 234 10758 0.0217513 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF28 His566Arg H566R not reviewed Insufficiently evaluated not reviewed unknown Array rs11189513 2586 10758 0.240379 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF28 His642Arg H642R not reviewed Insufficiently evaluated not reviewed unknown Array rs1952061 10652 10758 0.990147 54 0 106 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF28 Ala700Ser A700S not reviewed Insufficiently evaluated not reviewed unknown Array rs35145638 147 10758 0.0136642 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF4 Ser251Phe S251F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF4 Thr78Arg T78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF4 Arg16His R16H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF47 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF47 Ala117Thr A117T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735194 425 10758 0.0395055 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF53 Arg99Gly R99G not reviewed Insufficiently evaluated not reviewed unknown Array rs1258236 8813 10758 0.819204 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C10ORF53 Thr118Ile T118I not reviewed Insufficiently evaluated not reviewed unknown Array rs4838554 5082 10758 0.472393 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF54 Asp187Glu D187E not reviewed Insufficiently evaluated not reviewed unknown Array rs3747869 9922 10758 0.92229 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C10ORF54 Leu7Pro L7P not reviewed Insufficiently evaluated not reviewed unknown Array rs3747862 3954 10622 0.372246 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C10ORF57 Thr8Ala T8A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF57 Phe102Leu F102L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF62 Glu121Asp E121D not reviewed Insufficiently evaluated not reviewed unknown Array rs7093840 3455 10758 0.321156 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C10ORF62 Ile150Thr I150T not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF68 Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array rs1762526 9786 10742 0.911004 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C10ORF68 Leu109Arg L109R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF68 Glu322Lys E322K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF68 Gly388Ala G388A not reviewed Insufficiently evaluated not reviewed unknown Array rs4448627 10539 10730 0.982199 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF68 Met510Thr M510T not reviewed Insufficiently evaluated not reviewed unknown Array rs2504011 3753 10734 0.349637 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF68 Val607Ile V607I not reviewed Insufficiently evaluated not reviewed unknown Array rs1418538 10553 10744 0.982223 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C10ORF71 Arg320Leu R320L not reviewed Insufficiently evaluated not reviewed unknown Array rs56206226 1547 10210 0.151518 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C10ORF71 Ala339Glu A339E not reviewed Insufficiently evaluated not reviewed unknown Array rs7093235 1500 9952 0.150723 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF71 Asp461Ala D461A not reviewed Insufficiently evaluated not reviewed unknown Array rs45554335 1545 10358 0.14916 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C10ORF71 His666Gln H666Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10857469 1017 9676 0.105105 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C10ORF71 Phe698Ser F698S not reviewed Insufficiently evaluated not reviewed unknown Array rs7921186 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF71 Gln735Stop Q735X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C10ORF71 Asp741Gly D741G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF71 Trp826Arg W826R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF71 Trp826Leu W826L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF71 Trp826Stop W826X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C10ORF71 Asp883Asn D883N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF71 Phe958Tyr F958Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF71 Gly1084Ala G1084A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF71 Val1254Ile V1254I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF71 Gly1337Ser G1337S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF72 Phe68Ser F68S not reviewed Insufficiently evaluated not reviewed unknown Array rs13088 5342 10758 0.496561 45 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C10ORF78 Asp19Gly D19G not reviewed Insufficiently evaluated not reviewed unknown Array rs10786783 2387 10758 0.221881 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C10ORF78 Asp6Gly D6G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF79 Asp1269Asn D1269N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF79 Arg913Cys R913C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF79 Val634Ile V634I not reviewed Insufficiently evaluated not reviewed unknown Array rs17116635 6 10758 0.000557724 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF79 Ile393Thr I393T not reviewed Insufficiently evaluated not reviewed unknown Array rs10883979 539 10758 0.0501022 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF81 Phe157Ile F157I not reviewed Insufficiently evaluated not reviewed unknown Array rs41292632 1597 10758 0.148448 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF81 Val343Ile V343I not reviewed Insufficiently evaluated not reviewed unknown Array rs34024791 254 10758 0.0236103 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF84 Arg101Ser R101S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF88 Met312Ile M312I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF88 Pro202His P202H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C10ORF90 Asp531Glu D531E not reviewed Insufficiently evaluated not reviewed unknown Array rs12412320 721 10758 0.0670199 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C10ORF90 Thr392Ile T392I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF90 Asp262Asn D262N not reviewed Insufficiently evaluated not reviewed unknown Array rs11245007 4374 10758 0.406581 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C10ORF90 Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array 167 10658 0.015669 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF90 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array rs11245008 2338 10698 0.218546 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF92 Arg2402His R2402H not reviewed Insufficiently evaluated not reviewed unknown Array 301 10754 0.0279896 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF92 Ser2266Gly S2266G not reviewed Insufficiently evaluated not reviewed unknown Array rs2254419 8365 10758 0.777561 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF92 Leu2225Phe L2225F not reviewed Insufficiently evaluated not reviewed unknown Array 468 10758 0.0435025 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF92 Asp2137Asn D2137N not reviewed Insufficiently evaluated not reviewed unknown Array 342 10746 0.0318258 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF92 Ala2057Thr A2057T not reviewed Insufficiently evaluated not reviewed unknown Array rs4880433 3492 10758 0.324596 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF92 Glu1975Lys E1975K not reviewed Insufficiently evaluated not reviewed unknown Array 514 10754 0.0477962 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF92 Gly1910Ser G1910S not reviewed Insufficiently evaluated not reviewed unknown Array 127 10752 0.0118118 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF92 Ala1869Thr A1869T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF92 Cys1851Arg C1851R not reviewed Insufficiently evaluated not reviewed unknown Array 1800 10748 0.167473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C10ORF92 Asp1584Glu D1584E not reviewed Insufficiently evaluated not reviewed unknown Array 996 10758 0.0925823 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C10ORF92 Val1507Ile V1507I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF92 Pro1476Ser P1476S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF92 Cys1255Tyr C1255Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF92 Ala1035Ser A1035S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF92 Asn929Ser N929S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF92 Ile525Met I525M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF92 Pro423Leu P423L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF92 Arg199Ser R199S not reviewed Insufficiently evaluated not reviewed unknown Array rs4880287 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF92 Ile191Leu I191L not reviewed Insufficiently evaluated not reviewed unknown Array rs4880288 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF93 Ser264Asn S264N not reviewed Insufficiently evaluated not reviewed unknown Array rs12781609 3978 10758 0.369771 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF95 Ala85Ser A85S not reviewed Insufficiently evaluated not reviewed unknown Array rs2281878 1625 8728 0.186182 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C10ORF95 Gly43Trp G43W not reviewed Insufficiently evaluated not reviewed unknown Array rs73349055 435 8576 0.0507229 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C11ORF16 Arg442Gln R442Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2653601 2979 10758 0.27691 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C11ORF16 Ala423Val A423V not reviewed Insufficiently evaluated not reviewed unknown Array rs2568023 9885 10758 0.918851 52 0 97 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C11ORF16 Leu398Pro L398P not reviewed Insufficiently evaluated not reviewed unknown Array rs2653588 9428 10758 0.876371 49 0 91 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C11ORF16 Pro311Ala P311A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751066 5619 10758 0.522309 40 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C11ORF16 Trp218Stop W218X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C11ORF16 Val210Leu V210L not reviewed Insufficiently evaluated not reviewed unknown Array rs11042127 2099 10758 0.195111 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C11ORF17 Arg23Lys R23K not reviewed Insufficiently evaluated not reviewed unknown Array rs1133833 1982 10756 0.184269 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C11ORF17 Asp131His D131H not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF20 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array rs2286614 1069 9744 0.109709 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C11ORF21 Trp69Stop W69X not reviewed Insufficiently evaluated not reviewed unknown Array rs74048215 34 3234 0.0105133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C11ORF21 Pro45Ser P45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF21 Val24Met V24M not reviewed Insufficiently evaluated not reviewed unknown Array rs12276847 982 3234 0.303649 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C11ORF24 Thr361Ile T361I not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF24 Ser224Asn S224N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF24 Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array rs901827 4422 10758 0.411043 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C11ORF24 Gly97Val G97V not reviewed Insufficiently evaluated not reviewed unknown Array rs3802746 2690 10758 0.250046 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C11ORF24 Thr64Ile T64I not reviewed Insufficiently evaluated not reviewed unknown Array rs61752547 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF34 Ser142Pro S142P not reviewed Insufficiently evaluated not reviewed unknown Array rs2564872 2076 3234 0.64193 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C11ORF35 Pro442Ser P442S not reviewed Insufficiently evaluated not reviewed unknown Array 22 8424 0.00261158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF35 Gly291Asp G291D not reviewed Insufficiently evaluated not reviewed unknown Array rs74045019 174 10702 0.0162586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C11ORF35 Gln132Pro Q132P not reviewed Insufficiently evaluated not reviewed unknown Array 716 10756 0.0665675 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C11ORF35 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array rs2061586 8052 10750 0.749023 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C11ORF40 Met201Val M201V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF40 Cys200Ser C200S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF40 Asn199Ile N199I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF40 Asn199His N199H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF40 Gly197Trp G197W not reviewed Insufficiently evaluated not reviewed unknown Array rs11826422 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF40 Thr141Met T141M not reviewed Insufficiently evaluated not reviewed unknown Array rs34097396 16 128 0.125 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C11ORF40 Phe100Ser F100S not reviewed Insufficiently evaluated not reviewed unknown Array rs12795289 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C11ORF41 Asn938Asp N938D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C11ORF41 Phe1463Leu F1463L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF42 Pro242Ser P242S not reviewed Insufficiently evaluated not reviewed unknown Array rs10769671 6904 10758 0.641755 44 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C11ORF48 Arg160Cys R160C not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C11ORF52 Thr23Arg T23R not reviewed Insufficiently evaluated not reviewed unknown Array rs7124407 2913 10758 0.270775 30 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C11ORF52 Lys118Arg K118R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C11ORF53 Trp152Leu W152L not reviewed Insufficiently evaluated not reviewed unknown Array 438 10758 0.0407139 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF54 Ser146Arg S146R not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF60 Cys9Tyr C9Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF63 Gly661Arg G661R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748621 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF65 Gln44Glu Q44E not reviewed Insufficiently evaluated not reviewed unknown Array rs60205978 85 10754 0.00790404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C11ORF66 Ala69Val A69V not reviewed Insufficiently evaluated not reviewed unknown Array rs73496204 836 10758 0.0777096 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C11ORF66 Gly139Arg G139R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF66 Thr238Asn T238N not reviewed Insufficiently evaluated not reviewed unknown Array rs11230707 477 10758 0.0443391 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF66 Ser382Thr S382T not reviewed Insufficiently evaluated not reviewed unknown Array rs12787061 420 10756 0.039048 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - C11ORF67 Val92Met V92M not reviewed Insufficiently evaluated not reviewed unknown Array rs2186564 1140 10758 0.105968 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C11ORF68 Gln195Arg Q195R not reviewed Insufficiently evaluated not reviewed unknown Array rs7947504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF68 Gln196Arg Q196R not reviewed Insufficiently evaluated not reviewed unknown Array rs7947504 9508 10758 0.883807 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C11ORF68 Gln195Pro Q195P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - C11ORF68 Gln196Pro Q196P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - C11ORF70 Ile212Asn I212N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF82 Val12Ile V12I not reviewed Insufficiently evaluated not reviewed unknown Array rs61902276 192 10756 0.0178505 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C11ORF82 Asp257Glu D257E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C11ORF82 Arg460Ser R460S not reviewed Insufficiently evaluated not reviewed unknown Array rs7947780 3303 10758 0.307027 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C11ORF82 Pro795Arg P795R not reviewed Insufficiently evaluated not reviewed unknown Array rs11826199 749 10746 0.0697004 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C11ORF82 Val842Ile V842I not reviewed Insufficiently evaluated not reviewed unknown Array rs7130899 6244 10758 0.580405 48 0 66 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C11ORF83 Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array 172 10648 0.0161533 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF83 Gly89Ser G89S not reviewed Insufficiently evaluated not reviewed unknown Array rs13941 7091 10556 0.671751 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C11ORF84 Glu58Gln E58Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35875163 52 10750 0.00483721 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - C11ORF87 Arg87Gly R87G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF88 Pro9Ala P9A not reviewed Insufficiently evaluated not reviewed unknown Array 25 9618 0.00259929 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF88 Arg68Pro R68P not reviewed Insufficiently evaluated not reviewed unknown Array 129 10610 0.0121583 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF9 Phe1106Ser F1106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF9 Phe1146Ser F1146S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF92 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753533 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF10 Gln4Arg Q4R not reviewed Insufficiently evaluated not reviewed unknown Array rs71453838 10089 10752 0.938337 53 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF10 Gln4His Q4H not reviewed Insufficiently evaluated not reviewed unknown Array rs1534283 10091 10754 0.938349 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C12ORF10 Thr349Ile T349I not reviewed Insufficiently evaluated not reviewed unknown Array rs1534282 10362 10758 0.96319 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF10 His353Arg H353R not reviewed Insufficiently evaluated not reviewed unknown Array rs711316 10094 10758 0.938278 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C12ORF11 Pro630Ser P630S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF24 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF24 Arg225Gly R225G not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF26 Gln249Lys Q249K not reviewed Insufficiently evaluated not reviewed unknown Array rs4296098 9781 10752 0.909691 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C12ORF26 Glu303Lys E303K not reviewed Insufficiently evaluated not reviewed unknown Array rs34765930 177 10754 0.016459 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF29 Val238Leu V238L not reviewed Insufficiently evaluated not reviewed unknown Array rs9262 5015 10758 0.466165 29 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF30 Leu915Ile L915I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF30 Lys876Arg K876R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C12ORF34 Ser33Gly S33G not reviewed Insufficiently evaluated not reviewed unknown Array rs61746553 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF34 Asn55Asp N55D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF35 Ile59Val I59V not reviewed Insufficiently evaluated not reviewed unknown Array rs7298803 1045 10758 0.097137 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C12ORF35 Met78Thr M78T not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF35 His106Gln H106Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2388981 1693 10758 0.157371 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C12ORF35 Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array rs61353224 199 10758 0.0184979 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF35 Leu250Pro L250P not reviewed Insufficiently evaluated not reviewed unknown Array rs2166807 8796 10758 0.817624 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C12ORF35 Arg309Gln R309Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16919122 1346 10758 0.125116 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF35 Ser346Asn S346N not reviewed Insufficiently evaluated not reviewed unknown Array rs3207618 727 10756 0.0675902 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF35 Ser352Gly S352G not reviewed Insufficiently evaluated not reviewed unknown Array rs10771894 4181 10756 0.388713 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C12ORF35 Ser433Thr S433T not reviewed Insufficiently evaluated not reviewed unknown Array rs3759302 1719 10758 0.159788 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C12ORF35 Ser518Pro S518P not reviewed Insufficiently evaluated not reviewed unknown Array rs3759301 10299 10758 0.957334 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF35 Phe954Ser F954S not reviewed Insufficiently evaluated not reviewed unknown Array rs3809228 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C12ORF35 Thr1010Lys T1010K not reviewed Insufficiently evaluated not reviewed unknown Array rs16919127 569 10754 0.0529105 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF35 Lys1060Glu K1060E not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF35 Ser1208Cys S1208C not reviewed Insufficiently evaluated not reviewed unknown Array rs3759299 2127 10758 0.197713 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF35 Val1226Ile V1226I not reviewed Insufficiently evaluated not reviewed unknown Array rs1057994 1692 10758 0.157278 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C12ORF35 Thr1240Ala T1240A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF35 Thr1338Ala T1338A not reviewed Insufficiently evaluated not reviewed unknown Array rs3759296 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C12ORF35 Met1479Thr M1479T not reviewed Insufficiently evaluated not reviewed unknown Array rs56682866 355 10744 0.0330417 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF36 Ile84Val I84V not reviewed Insufficiently evaluated not reviewed unknown Array rs7308685 515 10758 0.0478714 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C12ORF36 Ala76Glu A76E not reviewed Insufficiently evaluated not reviewed unknown Array rs17821405 3132 10758 0.291132 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF36 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - C12ORF40 Ile13Leu I13L not reviewed Insufficiently evaluated not reviewed unknown Array rs58302581 41 9442 0.0043423 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF40 Cys105Phe C105F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C12ORF40 Lys468Met K468M not reviewed Insufficiently evaluated not reviewed unknown Array rs73270414 1249 9182 0.136027 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C12ORF41 Pro445Thr P445T not reviewed Insufficiently evaluated not reviewed unknown Array rs3741628 4732 9756 0.485035 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C12ORF42 Ser263Arg S263R not reviewed Insufficiently evaluated not reviewed unknown Array 1385 10364 0.133636 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF42 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array 18 9516 0.00189155 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF42 Glu11Asp E11D not reviewed Insufficiently evaluated not reviewed unknown Array rs10778257 5550 9602 0.578005 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C12ORF43 Gly44Arg G44R not reviewed Insufficiently evaluated not reviewed unknown Array rs16950706 427 10758 0.0396914 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF45 Gly5Ser G5S not reviewed Insufficiently evaluated not reviewed unknown Array rs12580271 296 9934 0.0297967 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF45 Lys8Gln K8Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1129593 3340 9952 0.335611 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C12ORF48 Ser21Asn S21N not reviewed Insufficiently evaluated not reviewed unknown Array 74 10754 0.00688116 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF48 Val319Met V319M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - C12ORF49 Gln55Arg Q55R not reviewed Insufficiently evaluated not reviewed unknown Array rs10507274 538 10758 0.0500093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - C12ORF49 Ser33Asn S33N not reviewed Insufficiently evaluated not reviewed unknown Array 227 10756 0.0211045 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF50 Gln306Arg Q306R not reviewed Insufficiently evaluated not reviewed unknown Array rs10777084 3361 10756 0.312477 26 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF50 Gly155Val G155V not reviewed Insufficiently evaluated not reviewed unknown Array rs73422110 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C12ORF51 Thr1495Ser T1495S not reviewed Insufficiently evaluated not reviewed unknown Array 38 9732 0.00390464 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF52 Arg118Stop R118X not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C12ORF54 Arg62Trp R62W not reviewed Insufficiently evaluated not reviewed unknown Array rs61940778 568 10758 0.0527979 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 2 - - C12ORF54 Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array rs11458 3655 10758 0.339747 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF56 Asp86Asn D86N not reviewed Insufficiently evaluated not reviewed unknown Array rs73118352 1044 9490 0.110011 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C12ORF59 Asn163Lys N163K not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF60 Lys65Arg K65R not reviewed Insufficiently evaluated not reviewed unknown Array rs7304054 2038 10758 0.18944 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C12ORF60 Asn103Lys N103K not reviewed Insufficiently evaluated not reviewed unknown Array rs7307438 2037 10758 0.189347 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C12ORF63 Thr88Ile T88I not reviewed Insufficiently evaluated not reviewed unknown Array rs74447642 1119 10758 0.104016 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF63 Thr394Ile T394I not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF63 Leu593Pro L593P not reviewed Insufficiently evaluated not reviewed unknown Array rs11108643 8186 10602 0.772118 40 0 73 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C12ORF63 Glu666Lys E666K not reviewed Insufficiently evaluated not reviewed unknown Array rs7968231 9229 10756 0.858033 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF63 Glu710Lys E710K not reviewed Insufficiently evaluated not reviewed unknown Array rs10860073 869 10758 0.0807771 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF63 Ser717Cys S717C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF63 Val783Ala V783A not reviewed Insufficiently evaluated not reviewed unknown Array rs7978894 3893 10752 0.362072 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C12ORF63 Ser790Asn S790N not reviewed Insufficiently evaluated not reviewed unknown Array rs1990828 9143 10752 0.850353 53 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF63 Pro1107His P1107H not reviewed Insufficiently evaluated not reviewed unknown Array rs12581184 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - C12ORF66 Ala443Ser A443S not reviewed Insufficiently evaluated not reviewed unknown Array rs699638 9527 9590 0.993431 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C12ORF66 Lys388Arg K388R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C12ORF66 Met139Ile M139I not reviewed Insufficiently evaluated not reviewed unknown Array rs2335390 9958 10108 0.98516 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C12ORF68 Arg98Cys R98C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C12ORF68 Glu140Asp E140D not reviewed Insufficiently evaluated not reviewed unknown Array rs10783231 7888 10550 0.747678 49 0 73 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C12ORF69 Gly181Arg G181R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10000 0.0015 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF69 Lys75Arg K75R not reviewed Insufficiently evaluated not reviewed unknown Array rs2241221 1768 9668 0.182871 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C12ORF70 Ser198Asn S198N not reviewed Insufficiently evaluated not reviewed unknown Array 555 3234 0.171614 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF70 Thr252Met T252M not reviewed Insufficiently evaluated not reviewed unknown Array 222 3224 0.0688586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - C12ORF71 Pro168Leu P168L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741737 1542 9654 0.159727 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C12ORF71 Ile140Val I140V not reviewed Insufficiently evaluated not reviewed unknown Array rs708167 3278 9572 0.342457 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C12ORF73 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array 150 3234 0.0463822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C12ORF74 Leu163Gln L163Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71456571 174 9954 0.0174804 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C13ORF16 Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array rs35219695 211 10758 0.0196133 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - C13ORF18 Gly152Arg G152R not reviewed Insufficiently evaluated not reviewed unknown Array rs1408184 4098 10758 0.380926 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C13ORF23 Thr706Ile T706I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C13ORF23 Thr728Ile T728I not reviewed Insufficiently evaluated not reviewed unknown Array rs34532807 97 10758 0.00901654 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C13ORF23 Val549Ala V549A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751379 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C13ORF23 Val571Ala V571A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751379 2612 10758 0.242796 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C13ORF26 Arg49His R49H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C13ORF28 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF28 Val111Asp V111D not reviewed Insufficiently evaluated not reviewed unknown Array rs10816 7155 10758 0.665086 53 0 85 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C13ORF3 Thr348Met T348M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C13ORF3 Thr254Ala T254A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C13ORF3 Val187Ile V187I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C13ORF3 Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C13ORF3 Arg27Stop R27X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C13ORF31 Lys38Glu K38E not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF31 Ile254Val I254V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3764147 2731 10758 0.253858 29 0 36 0 0 3 Y - - - - - - - - - - - - Y Y - - - -4 - 2 N - - C13ORF31 Pro340Ser P340S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C13ORF33 Arg23His R23H not reviewed Insufficiently evaluated not reviewed unknown Array 886 9626 0.0920424 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C13ORF33 Arg59Gly R59G not reviewed Insufficiently evaluated not reviewed unknown Array rs9531945 7930 8100 0.979012 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C13ORF34 Pro240Leu P240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C13ORF37 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C13ORF38 Gly115Arg G115R not reviewed Insufficiently evaluated not reviewed unknown Array rs9546785 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C13ORF38 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array rs9546785 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C13ORF38 Lys120Arg K120R not reviewed Insufficiently evaluated not reviewed unknown Array rs9546897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C13ORF38 Lys18Arg K18R not reviewed Insufficiently evaluated not reviewed unknown Array rs9546897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C13ORF38 Lys20Arg K20R not reviewed Insufficiently evaluated not reviewed unknown Array rs9546897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C13ORF39 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array rs45462291 7118 10754 0.661893 25 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C14ORF101 Ala245Ser A245S not reviewed Insufficiently evaluated not reviewed unknown Array rs17776256 1428 10758 0.132738 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C14ORF101 Glu471Lys E471K not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF101 Ser565Asn S565N not reviewed Insufficiently evaluated not reviewed unknown Array rs1041316 7978 10756 0.741726 52 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF101 Ser665Pro S665P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF102 Asn1118Ser N1118S not reviewed Insufficiently evaluated not reviewed unknown Array rs3737035 3336 10758 0.310095 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF102 Asn887Ser N887S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF102 Glu697Lys E697K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C14ORF102 Glu928Lys E928K not reviewed Insufficiently evaluated not reviewed unknown Array rs59039343 73 10758 0.00678565 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C14ORF102 Leu413Phe L413F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF102 Leu644Phe L644F not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF104 Asp720Gly D720G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - C14ORF104 Asp768Gly D768G not reviewed Insufficiently evaluated not reviewed unknown Array rs9989177 4482 10756 0.416698 24 0 32 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 1 N - - C14ORF104 Pro236Leu P236L not reviewed Insufficiently evaluated not reviewed unknown Array rs74050429 84 8460 0.00992908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - C14ORF104 Glu62Asp E62D not reviewed Insufficiently evaluated not reviewed unknown Array rs2985684 6601 9218 0.716099 29 0 41 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 1 N - - C14ORF105 Ile240Thr I240T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF105 Tyr235Cys Y235C not reviewed Insufficiently evaluated not reviewed unknown Array rs1152530 9555 10756 0.888341 30 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C14ORF106 Glu583Asp E583D not reviewed Insufficiently evaluated not reviewed unknown Array rs34101857 676 10348 0.0653266 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C14ORF106 Arg355Gln R355Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34862991 295 10756 0.0274266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF106 Gln208Arg Q208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF109 Leu114Met L114M not reviewed Insufficiently evaluated not reviewed unknown Array 3 9782 0.000306685 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C14ORF109 Leu76Met L76M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C14ORF115 Leu53Phe L53F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C14ORF119 Leu16Val L16V not reviewed Insufficiently evaluated not reviewed unknown Array rs35065609 122 10758 0.0113404 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF119 Gly138Ser G138S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF135 Ile128Val I128V not reviewed Insufficiently evaluated not reviewed unknown Array 15 9506 0.00157795 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF135 Val177Ile V177I not reviewed Insufficiently evaluated not reviewed unknown Array rs150688 7068 9512 0.743061 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C14ORF135 Lys321Glu K321E not reviewed Insufficiently evaluated not reviewed unknown Array rs308998 2652 10610 0.249953 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF135 Gln536His Q536H not reviewed Insufficiently evaluated not reviewed unknown Array rs3742642 108 10756 0.0100409 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF135 Gly766Ser G766S not reviewed Insufficiently evaluated not reviewed unknown Array rs167437 2930 10758 0.272355 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF138 Ala63Asp A63D not reviewed Insufficiently evaluated not reviewed unknown Array rs11157729 1825 10758 0.169641 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C14ORF143 Ala15Val A15V not reviewed Insufficiently evaluated not reviewed unknown Array rs35435801 465 10758 0.0432236 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF145 His732Arg H732R not reviewed Insufficiently evaluated not reviewed unknown Array rs327463 3884 10758 0.361034 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C14ORF145 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7160694 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - C14ORF149 Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array rs8660 6086 10758 0.565719 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C14ORF149 Ala315Val A315V not reviewed Insufficiently evaluated not reviewed unknown Array rs1046701 505 10758 0.0469418 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF149 Pro125Ser P125S not reviewed Insufficiently evaluated not reviewed unknown Array rs35622288 124 9994 0.0124074 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF149 Ala78Thr A78T not reviewed Insufficiently evaluated not reviewed unknown Array 122 10600 0.0115094 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF149 Val42Ala V42A not reviewed Insufficiently evaluated not reviewed unknown Array rs17096291 360 10392 0.034642 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF153 Pro27Ala P27A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF159 Ala148Val A148V not reviewed Insufficiently evaluated not reviewed unknown Array rs4900072 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF159 Ser225Asn S225N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C14ORF159 Ser237Asn S237N not reviewed Insufficiently evaluated not reviewed unknown Array rs34302825 433 10756 0.0402566 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C14ORF159 Ser242Asn S242N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - C14ORF159 Ala360Thr A360T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C14ORF159 Ala372Thr A372T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C14ORF159 Ala377Thr A377T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C14ORF159 Asp502Asn D502N not reviewed Insufficiently evaluated not reviewed unknown Array rs2295524 1525 10758 0.141755 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C14ORF159 Asp507Asn D507N not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF159 Val514Ile V514I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF159 Val519Ile V519I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF159 Gly531Asp G531D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF159 Gly583Asp G583D not reviewed Insufficiently evaluated not reviewed unknown Array rs34748911 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF159 Gly588Asp G588D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF166B Val450Ala V450A not reviewed Insufficiently evaluated not reviewed unknown Array rs7160583 3037 10308 0.294626 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF169 Lys17Arg K17R not reviewed Insufficiently evaluated not reviewed unknown Array rs10144469 7285 9576 0.760756 10 0 16 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C14ORF169 Phe218Ser F218S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C14ORF169 Ser364Pro S364P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF169 Pro498Leu P498L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF174 Leu18Pro L18P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF174 Met168Ile M168I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF174 Lys370Glu K370E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF174 Lys454Glu K454E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF177 Glu11Lys E11K not reviewed Insufficiently evaluated not reviewed unknown Array rs8009159 308 10758 0.0286299 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF177 Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array rs4905757 414 10758 0.038483 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF178 Gly61Asp G61D not reviewed Insufficiently evaluated not reviewed unknown Array rs72687241 842 10668 0.0789276 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C14ORF179 Asp94Asn D94N not reviewed Insufficiently evaluated not reviewed unknown Array rs17783366 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF179 Asp177Gly D177G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF179 Asp182Gly D182G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF182 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array rs6572635 3071 10190 0.301374 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C14ORF2 Ile26Val I26V not reviewed Insufficiently evaluated not reviewed unknown Array rs1053419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF2 Ile9Val I9V not reviewed Insufficiently evaluated not reviewed unknown Array rs1053419 2099 10758 0.195111 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C14ORF21 Ser47Leu S47L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10218 9.7866e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF21 Pro51Ser P51S not reviewed Insufficiently evaluated not reviewed unknown Array rs11848295 70 10356 0.00675937 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C14ORF21 Arg225Trp R225W not reviewed Insufficiently evaluated not reviewed unknown Array rs73589696 436 10758 0.040528 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF21 Ser308Asn S308N not reviewed Insufficiently evaluated not reviewed unknown Array rs4280164 2052 10758 0.190742 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF21 Gly311Ser G311S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF21 Leu425Phe L425F not reviewed Insufficiently evaluated not reviewed unknown Array rs73591404 210 10758 0.0195204 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF28 Ser234Phe S234F not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C14ORF28 Glu309Asp E309D not reviewed Insufficiently evaluated not reviewed unknown Array rs61742835 374 10752 0.0347842 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF37 Gln613Glu Q613E not reviewed Insufficiently evaluated not reviewed unknown Array rs2273442 5879 10758 0.546477 43 0 55 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C14ORF37 Val528Phe V528F not reviewed Insufficiently evaluated not reviewed unknown Array rs12886921 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C14ORF37 Thr345Ile T345I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741199 827 10758 0.076873 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C14ORF37 Thr96Ile T96I not reviewed Insufficiently evaluated not reviewed unknown Array rs3829765 4792 10758 0.445436 34 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C14ORF39 Leu524Phe L524F not reviewed Insufficiently evaluated not reviewed unknown Array rs1254319 3922 10756 0.364634 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF39 Ala433Pro A433P not reviewed Insufficiently evaluated not reviewed unknown Array 52 10748 0.00483811 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF39 Val404Ile V404I not reviewed Insufficiently evaluated not reviewed unknown Array rs11625921 10546 10754 0.980658 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C14ORF39 Asp315Glu D315E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF39 Ala306Val A306V not reviewed Insufficiently evaluated not reviewed unknown Array rs12586711 1746 10748 0.162449 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF4 Gln109Stop Q109X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C14ORF43 Ser925Gly S925G not reviewed Insufficiently evaluated not reviewed unknown Array rs60635070 871 10758 0.080963 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF43 Asp895Asn D895N not reviewed Insufficiently evaluated not reviewed unknown Array rs35905570 17 10758 0.00158022 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - C14ORF43 Pro554Leu P554L not reviewed Insufficiently evaluated not reviewed unknown Array rs17782124 1616 10758 0.150214 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C14ORF43 Pro245Gln P245Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10710 0.00112045 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF45 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array 958 7820 0.122506 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF45 Asp230Val D230V not reviewed Insufficiently evaluated not reviewed unknown Array rs3784038 3920 7820 0.501279 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C14ORF45 Lys496Glu K496E not reviewed Insufficiently evaluated not reviewed unknown Array rs3742809 1898 10758 0.176427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF49 Ala923Val A923V not reviewed Insufficiently evaluated not reviewed unknown Array rs12434757 6704 10758 0.623164 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF49 Pro720Leu P720L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF49 Lys670Met K670M not reviewed Insufficiently evaluated not reviewed unknown Array 293 10758 0.0272355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF49 Thr668Met T668M not reviewed Insufficiently evaluated not reviewed unknown Array rs9671369 3501 10758 0.325432 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF49 Arg377Cys R377C not reviewed Insufficiently evaluated not reviewed unknown Array rs74079986 147 10756 0.0136668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF49 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74082143 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF50 Lys35Glu K35E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF50 Gly75Cys G75C not reviewed Insufficiently evaluated not reviewed unknown Array rs74056311 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF50 Thr83Ile T83I not reviewed Insufficiently evaluated not reviewed unknown Array rs6573560 6163 10758 0.572876 44 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C14ORF50 Asp84His D84H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF50 Phe267Leu F267L not reviewed Insufficiently evaluated not reviewed unknown Array rs45482504 888 10758 0.0825432 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - C14ORF68 Val108Ile V108I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF68 Arg135Leu R135L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF68 Gly161Arg G161R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF73 Arg77Trp R77W not reviewed Insufficiently evaluated not reviewed unknown Array rs2297067 2160 10754 0.200855 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C14ORF73 Asp93Glu D93E not reviewed Insufficiently evaluated not reviewed unknown Array rs2297066 2407 10752 0.223865 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C14ORF73 Leu185His L185H not reviewed Insufficiently evaluated not reviewed unknown Array rs10131298 2654 10700 0.248037 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C14ORF73 Gln675Arg Q675R not reviewed Insufficiently evaluated not reviewed unknown Array rs729184 8945 10644 0.84038 13 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF73 Gln685Glu Q685E not reviewed Insufficiently evaluated not reviewed unknown Array rs34558946 465 10666 0.0435965 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF73 Pro712Leu P712L not reviewed Insufficiently evaluated not reviewed unknown Array rs57904317 1 9846 0.000101564 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF79 Phe222Tyr F222Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61745867 137 9862 0.0138917 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF80 Pro114Ala P114A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF80 Pro155Ala P155A not reviewed Insufficiently evaluated not reviewed unknown Array 1 3232 0.000309405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF80 Arg201His R201H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10732 9.3179e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF80 Met219Thr M219T not reviewed Insufficiently evaluated not reviewed unknown Array 755 10742 0.0702849 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF80 Gly225Arg G225R not reviewed Insufficiently evaluated not reviewed unknown Array 52 10738 0.00484262 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF80 Arg157Trp R157W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Arg198Trp R198W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Arg231Trp R231W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10506 0.000761469 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Pro281Leu P281L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Pro322Leu P322L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Pro355Leu P355L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10312 0.00067882 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF93 Ala461Val A461V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF93 Ala190Val A190V not reviewed Insufficiently evaluated not reviewed unknown Array rs3829409 876 10530 0.0831909 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF2 Pro34Gln P34Q not reviewed Insufficiently evaluated not reviewed unknown Array 308 9928 0.0310234 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - C15ORF2 Trp152Arg W152R not reviewed Insufficiently evaluated not reviewed unknown Array rs35870568 301 10748 0.0280052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - C15ORF2 Val212Ala V212A not reviewed Insufficiently evaluated not reviewed unknown Array rs3784246 805 10758 0.074828 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF2 Gly253Arg G253R not reviewed Insufficiently evaluated not reviewed unknown Array rs1563102 2385 10754 0.221778 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C15ORF2 Pro343Ala P343A not reviewed Insufficiently evaluated not reviewed unknown Array rs36025315 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C15ORF2 Gln406Glu Q406E not reviewed Insufficiently evaluated not reviewed unknown Array rs3742950 5295 10758 0.492192 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C15ORF2 Ser418Phe S418F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C15ORF2 Ala757Thr A757T not reviewed Insufficiently evaluated not reviewed unknown Array rs36032407 314 10758 0.0291876 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF2 Thr929Pro T929P not reviewed Insufficiently evaluated not reviewed unknown Array rs34413216 314 10758 0.0291876 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C15ORF23 Ala40Glu A40E not reviewed Insufficiently evaluated not reviewed unknown Array rs7164132 859 9588 0.0895912 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C15ORF23 Thr48Ala T48A not reviewed Insufficiently evaluated not reviewed unknown Array rs73399322 12 9620 0.0012474 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF23 Arg75Leu R75L not reviewed Insufficiently evaluated not reviewed unknown Array rs7169404 889 10000 0.0889 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C15ORF23 Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array rs7169262 871 9920 0.0878024 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C15ORF23 Ser232Gly S232G not reviewed Insufficiently evaluated not reviewed unknown Array rs11541642 786 10102 0.0778064 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF23 Asn279Tyr N279Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C15ORF24 Ser236Arg S236R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF27 Arg391His R391H not reviewed Insufficiently evaluated not reviewed unknown Array rs937732 2688 10758 0.249861 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C15ORF27 Pro427Leu P427L not reviewed Insufficiently evaluated not reviewed unknown Array rs937733 2580 10738 0.240268 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C15ORF32 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array rs1455773 3808 10758 0.353969 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C15ORF33 Glu506Gln E506Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C15ORF33 Pro426Arg P426R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C15ORF37 Val62Ala V62A not reviewed Insufficiently evaluated not reviewed unknown Array rs2733102 2917 9896 0.294766 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF37 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF39 Ala119Pro A119P not reviewed Insufficiently evaluated not reviewed unknown Array rs1873379 2140 10758 0.198922 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF39 Gly491Asp G491D not reviewed Insufficiently evaluated not reviewed unknown Array rs11072532 9796 10758 0.910578 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C15ORF39 Ser536Ala S536A not reviewed Insufficiently evaluated not reviewed unknown Array rs28509789 3554 10750 0.330605 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C15ORF39 Gly945Asp G945D not reviewed Insufficiently evaluated not reviewed unknown Array rs3743211 10643 10758 0.98931 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C15ORF40 Cys25Arg C25R not reviewed Insufficiently evaluated not reviewed unknown Array rs4842860 6994 10758 0.650121 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C15ORF40 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array rs17361375 2022 10756 0.187988 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C15ORF41 Leu73Val L73V not reviewed Insufficiently evaluated not reviewed unknown Array rs3784678 3455 7816 0.442042 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C15ORF42 Arg287Cys R287C not reviewed Insufficiently evaluated not reviewed unknown Array rs10775247 4706 9884 0.476123 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C15ORF42 Arg402Trp R402W not reviewed Insufficiently evaluated not reviewed unknown Array rs11629584 4380 9886 0.443051 37 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C15ORF42 Val747Ala V747A not reviewed Insufficiently evaluated not reviewed unknown Array rs12905387 132 9880 0.0133603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF42 Ser813Pro S813P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF42 Arg832His R832H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9852 0.000203004 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF42 Gly1200Ser G1200S not reviewed Insufficiently evaluated not reviewed unknown Array 183 10318 0.017736 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF42 Ala1277Thr A1277T not reviewed Insufficiently evaluated not reviewed unknown Array rs60649217 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF42 Arg1523Cys R1523C not reviewed Insufficiently evaluated not reviewed unknown Array rs894157 9953 10758 0.925172 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C15ORF42 Val1705Leu V1705L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF42 Ser1718Thr S1718T not reviewed Insufficiently evaluated not reviewed unknown Array rs1866928 3909 10758 0.363358 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C15ORF42 Arg1885Cys R1885C not reviewed Insufficiently evaluated not reviewed unknown Array rs3743372 2698 10758 0.25079 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C15ORF43 Pro31Arg P31R not reviewed Insufficiently evaluated not reviewed unknown Array rs11638723 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C15ORF43 Ile101Phe I101F not reviewed Insufficiently evaluated not reviewed unknown Array 29 10748 0.00269818 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF43 His117Gln H117Q not reviewed Insufficiently evaluated not reviewed unknown Array 171 10742 0.0159188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C15ORF52 Val320Gly V320G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C15ORF52 Gly313Arg G313R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF52 Arg223Trp R223W not reviewed Insufficiently evaluated not reviewed unknown Array 953 10488 0.0908658 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C15ORF53 Leu3Val L3V not reviewed Insufficiently evaluated not reviewed unknown Array rs7165988 2889 10758 0.268544 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C15ORF54 Thr59Met T59M not reviewed Insufficiently evaluated not reviewed unknown Array rs11853050 738 10758 0.0686001 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF54 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array rs16968547 256 10758 0.0237962 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C15ORF55 Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array rs374230 9349 10758 0.869028 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C15ORF55 Gly320Arg G320R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF55 Ser881Ile S881I not reviewed Insufficiently evaluated not reviewed unknown Array rs57115249 609 10758 0.056609 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C15ORF55 Thr973Asn T973N not reviewed Insufficiently evaluated not reviewed unknown Array rs2279683 502 10758 0.0466629 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF55 Pro985Arg P985R not reviewed Insufficiently evaluated not reviewed unknown Array rs2279684 503 10758 0.0467559 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C15ORF55 Arg1113His R1113H not reviewed Insufficiently evaluated not reviewed unknown Array rs2279685 612 10758 0.0568879 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C15ORF56 Ile160Thr I160T not reviewed Insufficiently evaluated not reviewed unknown Array rs55799438 2120 9936 0.213366 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C15ORF56 Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array rs55863440 2677 10728 0.249534 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C15ORF57 Lys11Ile K11I not reviewed Insufficiently evaluated not reviewed unknown Array rs10152546 4110 10758 0.382041 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C15ORF57 Lys2Ile K2I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF58 Glu9Lys E9K not reviewed Insufficiently evaluated not reviewed unknown Array 283 10758 0.026306 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF58 Arg23Gly R23G not reviewed Insufficiently evaluated not reviewed unknown Array rs7166441 10756 10758 0.999814 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C15ORF58 Met37Thr M37T not reviewed Insufficiently evaluated not reviewed unknown Array rs7171194 8088 10758 0.751813 51 0 84 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C15ORF58 Lys68Glu K68E not reviewed Insufficiently evaluated not reviewed unknown Array rs74037072 317 10758 0.0294664 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF58 Arg79His R79H not reviewed Insufficiently evaluated not reviewed unknown Array 283 10758 0.026306 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF58 Pro108Ser P108S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF58 Gly241Glu G241E not reviewed Insufficiently evaluated not reviewed unknown Array 502 10756 0.0466716 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF58 Pro264Thr P264T not reviewed Insufficiently evaluated not reviewed unknown Array rs10152994 1919 10758 0.178379 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C15ORF58 Thr307Ile T307I not reviewed Insufficiently evaluated not reviewed unknown Array rs10153004 1915 10758 0.178007 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C15ORF59 Thr170Met T170M not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF60 Pro162Leu P162L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9920 0.00120968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C15ORF61 Arg43Gly R43G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C16ORF11 Pro130Ser P130S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF11 Leu391Pro L391P not reviewed Insufficiently evaluated not reviewed unknown Array rs113355349 885 8292 0.106729 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C16ORF11 Arg486Gln R486Q not reviewed Insufficiently evaluated not reviewed unknown Array 247 8958 0.0275731 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF3 Gly90Val G90V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10124 0.000296325 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C16ORF3 Val64Ile V64I not reviewed Insufficiently evaluated not reviewed unknown Array rs3785183 3006 10744 0.279784 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C16ORF3 Ile52Thr I52T not reviewed Insufficiently evaluated not reviewed unknown Array 520 10750 0.0483721 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF3 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 895 10752 0.0832403 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C16ORF3 Val48Ile V48I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10752 0.00213914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C16ORF3 Val44Ala V44A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740023 981 10748 0.0912728 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C16ORF3 Gln33Lys Q33K not reviewed Insufficiently evaluated not reviewed unknown Array 122 10756 0.0113425 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C16ORF3 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10730 0.000372786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF35 Pro244Leu P244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF35 Pro423Leu P423L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF38 Ile439Val I439V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C16ORF38 Leu328Met L328M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C16ORF38 Ala288Asp A288D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF38 Val286Ile V286I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C16ORF38 Arg276Lys R276K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C16ORF38 Gly216Ala G216A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF38 Arg215Gly R215G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C16ORF38 Arg135Ser R135S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF38 Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF38 Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C16ORF38 Gly36Cys G36C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF38 Gly2Glu G2E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C16ORF42 Val252Gly V252G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C16ORF42 Asn249His N249H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF42 Thr171Ile T171I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF46 Lys388Asn K388N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF46 Pro388Ser P388S not reviewed Insufficiently evaluated not reviewed unknown Array rs12929250 186 10758 0.0172895 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF46 Tyr335His Y335H not reviewed Insufficiently evaluated not reviewed unknown Array rs10459872 689 10758 0.0640454 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C16ORF46 Ile288Thr I288T not reviewed Insufficiently evaluated not reviewed unknown Array rs7198494 2548 10758 0.236847 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C16ORF5 Pro96Thr P96T not reviewed Insufficiently evaluated not reviewed unknown Array rs73496707 231 9446 0.0244548 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C16ORF55 Glu28Lys E28K not reviewed Insufficiently evaluated not reviewed unknown Array rs74033824 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF55 Arg122Gln R122Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF57 Arg115Lys R115K not reviewed Insufficiently evaluated not reviewed unknown Array rs35025252 68 10758 0.00632088 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - C16ORF57 Gln250Glu Q250E not reviewed Insufficiently evaluated not reviewed unknown Array rs16959641 649 10758 0.0603272 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C16ORF59 Ser70Arg S70R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF59 Ala192Thr A192T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF61 Val53Ile V53I not reviewed Insufficiently evaluated not reviewed unknown Array rs1127390 3616 10758 0.336122 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C16ORF62 Arg482Gln R482Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF63 Glu156Lys E156K not reviewed Insufficiently evaluated not reviewed unknown Array rs12598966 658 10758 0.0611638 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C16ORF63 Gln87His Q87H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF68 Trp59Ser W59S not reviewed Insufficiently evaluated not reviewed unknown Array rs2270286 1422 9868 0.144102 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C16ORF68 Ala219Thr A219T not reviewed Insufficiently evaluated not reviewed unknown Array rs2302607 1903 10212 0.186349 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C16ORF68 Ala366Thr A366T not reviewed Insufficiently evaluated not reviewed unknown Array rs1731000 10135 10266 0.987239 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C16ORF68 Glu375Lys E375K not reviewed Insufficiently evaluated not reviewed unknown Array 57 10160 0.00561024 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C16ORF7 Arg392Trp R392W not reviewed Insufficiently evaluated not reviewed unknown Array 186 9986 0.0186261 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF70 Thr405Ser T405S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C16ORF71 Glu88Asp E88D not reviewed Insufficiently evaluated not reviewed unknown Array rs17137215 35 10758 0.00325339 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C16ORF71 Asn109Lys N109K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731839 348 10758 0.032348 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF71 Ala241Val A241V not reviewed Insufficiently evaluated not reviewed unknown Array rs7202010 275 10758 0.0255624 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C16ORF71 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array rs2075469 6458 10758 0.600297 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C16ORF71 Arg330Trp R330W not reviewed Insufficiently evaluated not reviewed unknown Array 208 10758 0.0193344 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF71 Arg330Leu R330L not reviewed Insufficiently evaluated not reviewed unknown Array rs61231109 208 10758 0.0193344 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C16ORF71 Gln354Arg Q354R not reviewed Insufficiently evaluated not reviewed unknown Array rs737700 6631 10758 0.616378 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C16ORF71 Ser356Phe S356F not reviewed Insufficiently evaluated not reviewed unknown Array rs61746912 465 10758 0.0432236 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF71 Pro465Leu P465L not reviewed Insufficiently evaluated not reviewed unknown Array rs17853375 4703 10746 0.437651 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C16ORF72 Asn221Ser N221S not reviewed Insufficiently evaluated not reviewed unknown Array rs34869458 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF73 Ile261Thr I261T not reviewed Insufficiently evaluated not reviewed unknown Array rs9806945 1739 10714 0.162311 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C16ORF73 Ser111Asn S111N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF73 Lys75Thr K75T not reviewed Insufficiently evaluated not reviewed unknown Array rs1657125 449 3234 0.138837 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C16ORF73 Thr18Pro T18P not reviewed Insufficiently evaluated not reviewed unknown Array rs1742446 2715 3234 0.839518 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C16ORF74 Gln12His Q12H not reviewed Insufficiently evaluated not reviewed unknown Array 76 10570 0.00719016 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF78 Arg104Gln R104Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF78 Gly121Asp G121D not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C16ORF78 Arg152Gln R152Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16947350 474 10758 0.0440602 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF78 Glu199Lys E199K not reviewed Insufficiently evaluated not reviewed unknown Array rs72776789 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF79 His122Tyr H122Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58292351 182 10740 0.016946 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF79 Val46Ile V46I not reviewed Insufficiently evaluated not reviewed unknown Array rs26857 5090 10738 0.474018 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C16ORF79 Ser31Gly S31G not reviewed Insufficiently evaluated not reviewed unknown Array rs26856 7370 10730 0.686859 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C16ORF84 His186Tyr H186Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF84 Met253Val M253V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF84 His257Gln H257Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF84 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C16ORF84 Gln416Arg Q416R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF84 Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF84 Pro430Leu P430L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF84 Gly482Arg G482R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C16ORF88 Val276Ala V276A not reviewed Insufficiently evaluated not reviewed unknown Array rs28424569 169 10510 0.0160799 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C16ORF88 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11640454 1479 9670 0.152947 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C16ORF89 Tyr401His Y401H not reviewed Insufficiently evaluated not reviewed unknown Array rs11642955 124 1292 0.0959752 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C16ORF89 Ile338Met I338M not reviewed Insufficiently evaluated not reviewed unknown Array 40 9438 0.00423819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF89 Leu334Ser L334S not reviewed Insufficiently evaluated not reviewed unknown Array rs1127920 2468 9436 0.261551 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C16ORF89 Arg222Met R222M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10226 0.0048895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C16ORF90 Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731451 196 9914 0.01977 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - C16ORF91 Ile247Phe I247F not reviewed Insufficiently evaluated not reviewed unknown Array rs61729564 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C16ORF91 His98Arg H98R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF101 Pro314Ser P314S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF101 Asp67Glu D67E not reviewed Insufficiently evaluated not reviewed unknown Array rs8072110 667 10756 0.0620119 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C17ORF102 Arg155Lys R155K not reviewed Insufficiently evaluated not reviewed unknown Array rs887230 8714 10178 0.85616 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C17ORF102 Gly98Arg G98R not reviewed Insufficiently evaluated not reviewed unknown Array rs58529418 741 9602 0.0771714 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C17ORF28 Gln130Glu Q130E not reviewed Insufficiently evaluated not reviewed unknown Array rs60549366 118 10748 0.0109788 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C17ORF42 Ile348Val I348V not reviewed Insufficiently evaluated not reviewed unknown Array rs2433 912 9556 0.0954374 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF45 Tyr36Cys Y36C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - C17ORF45 Ser78Thr S78T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C17ORF46 Ala184Thr A184T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF46 Val142Met V142M not reviewed Insufficiently evaluated not reviewed unknown Array rs11651968 3826 10758 0.355642 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF47 Cys546Gly C546G not reviewed Insufficiently evaluated not reviewed unknown Array rs16943091 158 10758 0.0146867 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - C17ORF47 Gly461Ser G461S not reviewed Insufficiently evaluated not reviewed unknown Array rs17822735 1882 10758 0.17494 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C17ORF47 Pro88Thr P88T not reviewed Insufficiently evaluated not reviewed unknown Array rs8071623 8869 10758 0.82441 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C17ORF48 Val22Ile V22I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C17ORF48 Glu337Gly E337G not reviewed Insufficiently evaluated not reviewed unknown Array rs406446 5518 10758 0.512921 43 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C17ORF50 Asp22Glu D22E not reviewed Insufficiently evaluated not reviewed unknown Array rs4795087 1716 7782 0.220509 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C17ORF50 Glu138Ala E138A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF53 Thr126Pro T126P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs227584 5111 10758 0.475088 42 0 70 0 0 - - - - - - - - - - - - - - Y Y - - - 4 Y 2 N - - C17ORF53 Asn497Thr N497T not reviewed Insufficiently evaluated not reviewed unknown Array rs73314467 174 10758 0.016174 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF53 Ser646Gly S646G not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF55 Arg119Cys R119C not reviewed Insufficiently evaluated not reviewed unknown Array rs2048058 1050 10060 0.104374 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C17ORF55 Val50Leu V50L not reviewed Insufficiently evaluated not reviewed unknown Array rs2056439 4238 10118 0.418857 31 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF56 Ala489Thr A489T not reviewed Insufficiently evaluated not reviewed unknown Array 206 10756 0.0191521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF57 Thr33Ile T33I not reviewed Insufficiently evaluated not reviewed unknown Array 105 10756 0.00976199 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF57 Arg211Stop R211X not reviewed Insufficiently evaluated not reviewed unknown Array rs71377306 417 10750 0.0387907 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C17ORF57 Ile279Val I279V not reviewed Insufficiently evaluated not reviewed unknown Array rs55853213 538 10752 0.0500372 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF57 Val312Ile V312I not reviewed Insufficiently evaluated not reviewed unknown Array rs4968318 6954 10652 0.652835 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF57 Lys433Stop K433X not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C17ORF57 Asp541Val D541V not reviewed Insufficiently evaluated not reviewed unknown Array rs72825679 609 10754 0.0566301 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C17ORF58 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array rs9891146 6194 9996 0.619648 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF58 Glu72Gly E72G not reviewed Insufficiently evaluated not reviewed unknown Array rs28368756 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF61 Cys79Phe C79F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF63 Leu471Ser L471S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF64 Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array 1453 10758 0.135062 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C17ORF65 Arg129Cys R129C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C17ORF65 Cys114Arg C114R not reviewed Insufficiently evaluated not reviewed unknown Array rs7212573 31 0 48 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C17ORF65 Ser32Arg S32R not reviewed Insufficiently evaluated not reviewed unknown Array rs7217858 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF66 Ser480Phe S480F not reviewed Insufficiently evaluated not reviewed unknown Array rs2306630 1603 10758 0.149005 21 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C17ORF66 Arg419Gly R419G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF66 Phe52Leu F52L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF66 Tyr3Cys Y3C not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF67 Ile111Val I111V not reviewed Insufficiently evaluated not reviewed unknown Array rs72837329 1454 10312 0.141001 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF68 Ile1005Val I1005V not reviewed Insufficiently evaluated not reviewed unknown Array rs3826543 7980 9970 0.800401 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF68 Ile820Val I820V not reviewed Insufficiently evaluated not reviewed unknown Array rs3027238 9411 9884 0.952145 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C17ORF70 Ala666Thr A666T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF70 Ala817Thr A817T not reviewed Insufficiently evaluated not reviewed unknown Array rs14422 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF70 Ala543Pro A543P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF70 Ala694Pro A694P not reviewed Insufficiently evaluated not reviewed unknown Array 64 10568 0.00605602 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF70 Gly519Ser G519S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF70 Gly670Ser G670S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF70 Pro515Thr P515T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF70 Pro666Thr P666T not reviewed Insufficiently evaluated not reviewed unknown Array 86 10680 0.00805243 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF70 Leu509Pro L509P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF70 Leu660Pro L660P not reviewed Insufficiently evaluated not reviewed unknown Array rs11552304 61 126 0.484127 31 0 49 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C17ORF70 Arg426Gln R426Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF70 Arg577Gln R577Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10738 0.000745017 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF70 Thr225Ile T225I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF70 Thr376Ile T376I not reviewed Insufficiently evaluated not reviewed unknown Array 220 10746 0.0204727 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF71 Gly37Glu G37E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF71 Pro280Leu P280L not reviewed Insufficiently evaluated not reviewed unknown Array rs8068240 357 10758 0.0331846 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF74 Ser108Ala S108A not reviewed Insufficiently evaluated not reviewed unknown Array rs13290 5605 10396 0.53915 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C17ORF74 His131Arg H131R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF74 Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF74 Ser327Leu S327L not reviewed Insufficiently evaluated not reviewed unknown Array 248 9878 0.0251063 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF76 Gly206Ser G206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF76 Arg166Gly R166G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF77 Thr11Ile T11I not reviewed Insufficiently evaluated not reviewed unknown Array rs68124408 380 10758 0.0353226 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF77 Arg47Ser R47S not reviewed Insufficiently evaluated not reviewed unknown Array rs493430 94 120 0.783333 48 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C17ORF77 Thr198Ile T198I not reviewed Insufficiently evaluated not reviewed unknown Array rs58253413 614 10758 0.0570738 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C17ORF77 Cys207Stop C207X not reviewed Insufficiently evaluated not reviewed unknown Array rs545652 2908 10758 0.27031 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - C17ORF78 Thr152Ser T152S not reviewed Insufficiently evaluated not reviewed unknown Array rs1714987 1880 9402 0.199957 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C17ORF79 Ser43Gly S43G not reviewed Insufficiently evaluated not reviewed unknown Array rs8068049 9759 10758 0.907139 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C17ORF79 Asp2Glu D2E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C17ORF80 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array rs61732265 320 10758 0.0297453 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF80 Pro166Ser P166S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF80 Phe356Leu F356L not reviewed Insufficiently evaluated not reviewed unknown Array rs745143 5693 10758 0.529188 44 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF80 His395Asn H395N not reviewed Insufficiently evaluated not reviewed unknown Array rs904384 10672 10758 0.992006 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF80 Cys396Arg C396R not reviewed Insufficiently evaluated not reviewed unknown Array rs904383 5716 10758 0.531326 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C17ORF80 Gln420His Q420H not reviewed Insufficiently evaluated not reviewed unknown Array rs745142 5718 10758 0.531511 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C17ORF80 Arg457Ser R457S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729639 397 10758 0.0369028 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF80 Ala522Thr A522T not reviewed Insufficiently evaluated not reviewed unknown Array rs1566286 5641 10758 0.524354 44 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C17ORF81 Glu14Lys E14K not reviewed Insufficiently evaluated not reviewed unknown Array rs2521988 1076 10758 0.100019 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF81 Gly230Glu G230E not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF82 Ala124Val A124V not reviewed Insufficiently evaluated not reviewed unknown Array rs77617620 380 10680 0.0355805 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF82 Ala151Pro A151P not reviewed Insufficiently evaluated not reviewed unknown Array rs58036240 820 10668 0.0768654 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C17ORF82 Leu186Pro L186P not reviewed Insufficiently evaluated not reviewed unknown Array rs9907379 7699 9630 0.799481 42 0 67 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C17ORF82 Thr187Ile T187I not reviewed Insufficiently evaluated not reviewed unknown Array rs61764069 644 9596 0.0671113 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C17ORF85 Glu36Ala E36A not reviewed Insufficiently evaluated not reviewed unknown Array 91 3230 0.0281734 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF90 Ser39Thr S39T not reviewed Insufficiently evaluated not reviewed unknown Array 73 10720 0.0068097 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C17ORF96 Pro97Leu P97L not reviewed Insufficiently evaluated not reviewed unknown Array 452 2594 0.174248 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C17ORF96 Leu63Val L63V not reviewed Insufficiently evaluated not reviewed unknown Array 330 1982 0.166498 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF96 Pro8Ser P8S not reviewed Insufficiently evaluated not reviewed unknown Array 72 2502 0.028777 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF97 Glu56Lys E56K not reviewed Insufficiently evaluated not reviewed unknown Array rs4581766 866 7120 0.121629 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C17ORF97 Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF97 Asn218Asp N218D not reviewed Insufficiently evaluated not reviewed unknown Array rs71356791 10 14 0.714286 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C17ORF97 Glu220Asp E220D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - C17ORF97 Phe245Ile F245I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF97 Ile255Phe I255F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF97 Thr291Ala T291A not reviewed Insufficiently evaluated not reviewed unknown Array rs9891763 29 34 0.852941 12 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C17ORF97 Ile297Thr I297T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF97 Lys320Glu K320E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF97 Lys340Glu K340E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF97 Phe355Ile F355I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C18ORF10 Arg299Gln R299Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73433599 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF19 Tyr39Asn Y39N not reviewed Insufficiently evaluated not reviewed unknown Array 350 10758 0.0325339 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C18ORF21 Thr132Ala T132A not reviewed Insufficiently evaluated not reviewed unknown Array rs2276314 2766 10758 0.257111 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C18ORF22 Val122Met V122M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C18ORF22 Lys185Glu K185E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF22 Asn245His N245H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF22 Lys276Gln K276Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C18ORF24 Val91Ile V91I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF25 Arg144Gln R144Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF25 Ser252Ala S252A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C18ORF25 Ser313Ala S313A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C18ORF26 Val38Ala V38A not reviewed Insufficiently evaluated not reviewed unknown Array rs35428499 1650 10758 0.153374 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C18ORF26 Met125Thr M125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C18ORF26 Thr189Pro T189P not reviewed Insufficiently evaluated not reviewed unknown Array rs9947055 5561 10752 0.517206 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C18ORF34 Asp601Asn D601N not reviewed Insufficiently evaluated not reviewed unknown Array rs466113 10704 10756 0.995165 39 0 77 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C18ORF34 Leu600Arg L600R not reviewed Insufficiently evaluated not reviewed unknown Array rs457896 1727 10756 0.160562 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C18ORF34 Val465Glu V465E not reviewed Insufficiently evaluated not reviewed unknown Array rs9965081 9701 10726 0.904438 54 0 98 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C18ORF34 Asp420Asn D420N not reviewed Insufficiently evaluated not reviewed unknown Array rs58448816 745 10746 0.0693281 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C18ORF34 Ala184Thr A184T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF45 Leu131Phe L131F not reviewed Insufficiently evaluated not reviewed unknown Array rs8099409 5236 10758 0.486708 41 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C18ORF51 Gln405Arg Q405R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF51 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF51 Glu88Lys E88K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF55 Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array rs3737512 1012 10758 0.0940695 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C18ORF55 Arg174His R174H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF56 Gln83Stop Q83X not reviewed Insufficiently evaluated not reviewed unknown Array 137 10264 0.0133476 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C18ORF56 Arg62Gly R62G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2853533 2179 10636 0.20487 20 0 27 1 1 - - - - - - - - - - - - - - - Y - - - 6 Y 1 N - - C18ORF8 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C19ORF10 Gly12Arg G12R not reviewed Insufficiently evaluated not reviewed unknown Array rs2270090 1885 8910 0.21156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF12 Lys131Thr K131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF12 Lys142Thr K142T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF15 Pro12Ser P12S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF15 Met1137Thr M1137T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF18 Arg125Gln R125Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF2 Met135Leu M135L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C19ORF2 Met95Leu M95L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C19ORF2 Ala156Ser A156S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF2 Ala196Ser A196S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF2 Pro455Ser P455S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF2 Pro495Ser P495S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF21 Val61Met V61M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF21 Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array rs45477999 128 10756 0.0119003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF21 Ser156Gly S156G not reviewed Insufficiently evaluated not reviewed unknown Array rs3746173 1907 10720 0.177892 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF21 Arg188Thr R188T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF21 Lys232Arg K232R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - C19ORF21 Glu653Gly E653G not reviewed Insufficiently evaluated not reviewed unknown Array rs8107847 593 10758 0.0551218 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF22 Val118Ala V118A not reviewed Insufficiently evaluated not reviewed unknown Array 108 10736 0.0100596 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF22 Leu89Pro L89P not reviewed Insufficiently evaluated not reviewed unknown Array 167 10752 0.015532 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF26 His365Arg H365R not reviewed Insufficiently evaluated not reviewed unknown Array rs8110590 5553 10626 0.522586 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C19ORF26 Ala229Thr A229T not reviewed Insufficiently evaluated not reviewed unknown Array rs58142912 1 10506 9.5183e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF28 Arg243His R243H not reviewed Insufficiently evaluated not reviewed unknown Array rs10414812 623 9698 0.06424 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C19ORF28 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array rs34562175 309 9986 0.0309433 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - C19ORF28 Tyr182His Y182H not reviewed Insufficiently evaluated not reviewed unknown Array rs2240751 47 9968 0.00471509 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF29 Ala499Val A499V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074789 4499 7586 0.593066 18 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF29 Ser108Leu S108L not reviewed Insufficiently evaluated not reviewed unknown Array rs55862054 629 9906 0.0634969 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF33 Ser55Pro S55P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF33 Lys102Glu K102E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF35 Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array rs73518414 1872 10388 0.180208 22 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C19ORF35 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array rs55662626 942 10752 0.0876116 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C19ORF38 Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array 190 3234 0.0587508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF38 Glu106Gln E106Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C19ORF40 Gly10Ala G10A not reviewed Insufficiently evaluated not reviewed unknown Array rs34151845 240 10758 0.022309 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF40 Ser158Leu S158L not reviewed Insufficiently evaluated not reviewed unknown Array rs2304103 514 10758 0.0477784 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF40 Ile192Thr I192T not reviewed Insufficiently evaluated not reviewed unknown Array rs3816032 1138 10758 0.105782 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C19ORF41 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF42 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF43 Glu30Gly E30G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF44 Ser519Leu S519L not reviewed Insufficiently evaluated not reviewed unknown Array rs58659693 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF45 Arg72Cys R72C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C19ORF45 Trp94Arg W94R not reviewed Insufficiently evaluated not reviewed unknown Array 87 6002 0.0144952 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF45 Asp256Gly D256G not reviewed Insufficiently evaluated not reviewed unknown Array rs484870 4363 10758 0.405559 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C19ORF45 Tyr396Asn Y396N not reviewed Insufficiently evaluated not reviewed unknown Array rs3826736 4519 10758 0.42006 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C19ORF45 Tyr434Asn Y434N not reviewed Insufficiently evaluated not reviewed unknown Array rs475923 3660 10756 0.340275 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C19ORF45 Pro497Ser P497S not reviewed Insufficiently evaluated not reviewed unknown Array rs1133378 3044 10756 0.283005 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C19ORF45 Leu500Pro L500P not reviewed Insufficiently evaluated not reviewed unknown Array rs608144 3729 10756 0.34669 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C19ORF46 Gln278His Q278H not reviewed Insufficiently evaluated not reviewed unknown Array rs2285422 9441 9804 0.962974 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C19ORF46 Ala175Pro A175P not reviewed Insufficiently evaluated not reviewed unknown Array 240 10146 0.0236546 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF47 Ala259Ser A259S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF48 Gly104Glu G104E not reviewed Insufficiently evaluated not reviewed unknown Array rs4801853 2571 10758 0.238985 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF48 Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array rs4802741 2575 10758 0.239357 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C19ORF50 Pro157Ala P157A not reviewed Insufficiently evaluated not reviewed unknown Array rs7648 4698 10758 0.436698 33 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF50 Gly164Ser G164S not reviewed Insufficiently evaluated not reviewed unknown Array rs28681686 184 10758 0.0171035 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF50 Glu176Lys E176K not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF51 Leu417Ile L417I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C19ORF51 Asp412Asn D412N not reviewed Insufficiently evaluated not reviewed unknown Array rs890872 28 28 1 15 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C19ORF51 Leu381Pro L381P not reviewed Insufficiently evaluated not reviewed unknown Array rs890871 249 9840 0.0253049 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF51 Glu339Gly E339G not reviewed Insufficiently evaluated not reviewed unknown Array rs2365725 1769 9026 0.195989 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF51 Gly224Ser G224S not reviewed Insufficiently evaluated not reviewed unknown Array rs58824375 259 9296 0.0278614 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF53 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array rs10104 3306 10756 0.307363 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C19ORF54 Arg70Pro R70P not reviewed Insufficiently evaluated not reviewed unknown Array rs2254343 2455 3234 0.759122 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C19ORF55 Ser302Arg S302R not reviewed Insufficiently evaluated not reviewed unknown Array 76 9842 0.00772201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - C19ORF55 Lys365Asn K365N not reviewed Insufficiently evaluated not reviewed unknown Array rs231217 1000 9960 0.100402 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C19ORF57 Arg607Gln R607Q not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF57 Gln500Arg Q500R not reviewed Insufficiently evaluated not reviewed unknown Array rs3803892 3892 10758 0.361777 31 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C19ORF57 Pro440Leu P440L not reviewed Insufficiently evaluated not reviewed unknown Array rs73922796 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF57 Ser389Leu S389L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF57 Gly267Arg G267R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305775 3743 10758 0.347927 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF57 Ser239Arg S239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF57 Asp31Tyr D31Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58722011 294 10758 0.0273285 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF59 Ile167Val I167V not reviewed Insufficiently evaluated not reviewed unknown Array rs72996468 1312 10754 0.122001 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C19ORF59 Leu175Val L175V not reviewed Insufficiently evaluated not reviewed unknown Array rs10409343 390 10756 0.0362588 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF6 Pro606Ala P606A not reviewed Insufficiently evaluated not reviewed unknown Array 185 9466 0.0195436 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF61 Arg385Gln R385Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73935066 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF70 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF71 Asp29His D29H not reviewed Insufficiently evaluated not reviewed unknown Array 2 3230 0.000619195 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF71 Pro83Leu P83L not reviewed Insufficiently evaluated not reviewed unknown Array 739 3162 0.233713 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C19ORF71 Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array 287 3234 0.0887446 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF72 Val338Ala V338A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF73 Ser106Gly S106G not reviewed Insufficiently evaluated not reviewed unknown Array rs2232003 8159 10462 0.77987 52 0 84 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF73 Val24Met V24M not reviewed Insufficiently evaluated not reviewed unknown Array 52 10018 0.00519066 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1D Ser127Pro S127P not reviewed Insufficiently evaluated not reviewed unknown Array rs10444 2408 10736 0.224292 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1GALT1 Val35Gly V35G not reviewed Insufficiently evaluated not reviewed unknown Array rs41282685 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1GALT1 Ile261Asn I261N not reviewed Insufficiently evaluated not reviewed unknown Array rs61744815 358 10758 0.0332776 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1GALT1C1 Asp131Glu D131E benign Insufficiently evaluated benign unknown Array rs17261572 1393 8759 0.159036 8 0 10 1 1 1 Y 1 Y - - - - - - - - - Y - - 0.001 - - -2 - 2 N - - This variant is likely a benign polymorphism. Also found in one individual with Tn syndrome. C1ORF101 Thr56Ser T56S not reviewed Insufficiently evaluated not reviewed unknown Array rs58602830 115 10756 0.0106917 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF101 Thr446Ile T446I not reviewed Insufficiently evaluated not reviewed unknown Array rs73115417 398 10758 0.0369957 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF101 Ser738Trp S738W not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF102 Gly317Arg G317R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF102 Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF102 Tyr209His Y209H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF102 Thr131Ala T131A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF102 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF103 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF103 Ala658Thr A658T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF103 Ala438Thr A438T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232041 2364 10758 0.219743 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF104 Ser6Stop S6X not reviewed Insufficiently evaluated not reviewed unknown Array rs74118444 160 9554 0.0167469 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1ORF105 Ser137Asn S137N not reviewed Insufficiently evaluated not reviewed unknown Array rs1129942 8140 10758 0.756646 55 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF106 His286Pro H286P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF106 His371Pro H371P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF106 Pro361Ser P361S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF106 Pro446Ser P446S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740234 397 10758 0.0369028 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF106 Arg453Cys R453C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF106 Arg538Cys R538C not reviewed Insufficiently evaluated not reviewed unknown Array rs296520 6639 9814 0.676483 40 0 68 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C1ORF107 Gln67Glu Q67E not reviewed Insufficiently evaluated not reviewed unknown Array rs585627 7557 10758 0.702454 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF107 Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array rs61747285 1426 10758 0.132553 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C1ORF110 Arg93Ser R93S not reviewed Insufficiently evaluated not reviewed unknown Array 1514 9830 0.154018 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF111 Ala69Val A69V not reviewed Insufficiently evaluated not reviewed unknown Array rs164181 10046 10758 0.933817 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF112 Ser209Gly S209G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF113 Ala176Asp A176D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF113 His177Tyr H177Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF114 Phe238Ile F238I not reviewed Insufficiently evaluated not reviewed unknown Array rs35107735 2979 10758 0.27691 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF114 Phe172Ser F172S not reviewed Insufficiently evaluated not reviewed unknown Array rs3820059 6931 10754 0.644504 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C1ORF116 Asp254Ala D254A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF116 Asp500Ala D500A not reviewed Insufficiently evaluated not reviewed unknown Array rs61743516 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF116 Arg240His R240H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF116 Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array 367 10758 0.0341141 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF116 Ser198Pro S198P not reviewed Insufficiently evaluated not reviewed unknown Array rs2842726 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF116 Ser444Pro S444P not reviewed Insufficiently evaluated not reviewed unknown Array rs2842726 10643 10758 0.98931 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF116 Pro286Ser P286S not reviewed Insufficiently evaluated not reviewed unknown Array rs34858608 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF116 Pro40Ser P40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF116 Arg12Gly R12G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF116 Arg258Gly R258G not reviewed Insufficiently evaluated not reviewed unknown Array rs12062114 1182 10758 0.109872 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C1ORF116 Glu171Lys E171K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF116 Asn157Thr N157T not reviewed Insufficiently evaluated not reviewed unknown Array rs34660159 1244 10758 0.115635 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF116 Ser117Pro S117P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF116 Thr107Ala T107A not reviewed Insufficiently evaluated not reviewed unknown Array rs35299018 1161 10746 0.10804 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF123 Gly115Arg G115R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF124 Pro296Leu P296L not reviewed Insufficiently evaluated not reviewed unknown Array rs2437150 6178 10756 0.574377 39 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF124 Val302Met V302M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF124 His471Pro H471P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF125 Ile522Leu I522L not reviewed Insufficiently evaluated not reviewed unknown Array rs11577579 3207 10752 0.29827 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF125 Ala742Val A742V not reviewed Insufficiently evaluated not reviewed unknown Array rs17369441 512 10758 0.0475925 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF125 Glu917Gln E917Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF125 Glu991Gln E991Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6425573 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF125 Gln919Glu Q919E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF125 Gln993Glu Q993E not reviewed Insufficiently evaluated not reviewed unknown Array rs6658180 3429 10604 0.323369 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF127 Arg656His R656H not reviewed Insufficiently evaluated not reviewed unknown Array rs72868124 341 10738 0.0317564 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF127 Ala530Val A530V not reviewed Insufficiently evaluated not reviewed unknown Array rs1281018 973 10758 0.0904443 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF127 Val366Asp V366D not reviewed Insufficiently evaluated not reviewed unknown Array rs1281016 917 10758 0.0852389 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C1ORF127 Arg256Gln R256Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1281012 894 10752 0.0831473 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF127 Ala186Thr A186T not reviewed Insufficiently evaluated not reviewed unknown Array rs45537241 1341 10758 0.124651 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF127 Ile119Thr I119T not reviewed Insufficiently evaluated not reviewed unknown Array rs75130475 1436 10758 0.133482 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF129 Asn29Ser N29S not reviewed Insufficiently evaluated not reviewed unknown Array rs17563089 780 9552 0.0816583 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF129 Val74Ala V74A not reviewed Insufficiently evaluated not reviewed unknown Array rs2294740 1381 9658 0.14299 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF129 Ser507Arg S507R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF130 Gln98His Q98H not reviewed Insufficiently evaluated not reviewed unknown Array rs62623442 665 10758 0.0618145 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C1ORF131 Leu28Val L28V not reviewed Insufficiently evaluated not reviewed unknown Array rs2274067 921 10758 0.0856107 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF135 Lys82Thr K82T not reviewed Insufficiently evaluated not reviewed unknown Array rs34449716 468 10758 0.0435025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - C1ORF135 Phe50Leu F50L not reviewed Insufficiently evaluated not reviewed unknown Array rs72879419 161 10758 0.0149656 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF14 His384Pro H384P not reviewed Insufficiently evaluated not reviewed unknown Array 18 10754 0.0016738 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF14 Ala89Glu A89E not reviewed Insufficiently evaluated not reviewed unknown Array rs13373887 401 10536 0.03806 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF141 Glu379Lys E379K not reviewed Insufficiently evaluated not reviewed unknown Array rs41313272 885 10746 0.0823562 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF141 Val189Ile V189I not reviewed Insufficiently evaluated not reviewed unknown Array rs11208997 9631 10754 0.895574 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C1ORF141 Gln144Arg Q144R not reviewed Insufficiently evaluated not reviewed unknown Array rs72933970 1119 10750 0.104093 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF141 Glu85Gly E85G not reviewed Insufficiently evaluated not reviewed unknown Array rs2273682 8 10682 0.000748923 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - C1ORF156 Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array rs16862686 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - C1ORF156 Glu10Asp E10D not reviewed Insufficiently evaluated not reviewed unknown Array rs10489177 1995 10758 0.185443 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF157 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs4951039 106 122 0.868852 48 0 90 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF157 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array rs74138920 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF158 Phe38Val F38V not reviewed Insufficiently evaluated not reviewed unknown Array rs71647059 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF158 Thr45Ile T45I not reviewed Insufficiently evaluated not reviewed unknown Array rs72860701 173 10758 0.0160811 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF158 Pro109Leu P109L not reviewed Insufficiently evaluated not reviewed unknown Array 249 10758 0.0231456 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF158 Phe191Leu F191L not reviewed Insufficiently evaluated not reviewed unknown Array rs1132185 8874 10758 0.824875 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF159 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 3228 0.0204461 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF161 Gln111Glu Q111E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF162 Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array rs6703267 2574 10758 0.239264 28 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF163 Lys219Arg K219R not reviewed Insufficiently evaluated not reviewed unknown Array rs443751 3219 10758 0.299219 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C1ORF163 Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF168 Trp606Stop W606X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1ORF168 Pro453Ser P453S not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF168 Lys400Asn K400N not reviewed Insufficiently evaluated not reviewed unknown Array 175 10756 0.01627 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF168 Pro280Arg P280R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF168 Ile125Met I125M not reviewed Insufficiently evaluated not reviewed unknown Array rs17114336 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - C1ORF168 Ser35Tyr S35Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61736121 574 10758 0.0533556 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C1ORF172 Arg107Trp R107W not reviewed Insufficiently evaluated not reviewed unknown Array rs3010109 1376 10740 0.128119 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF172 Gln100Arg Q100R not reviewed Insufficiently evaluated not reviewed unknown Array rs17360994 757 10744 0.0704579 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF172 Arg21Gln R21Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10606 9.4286e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF173 Val1528Met V1528M not reviewed Insufficiently evaluated not reviewed unknown Array rs9326116 10466 10758 0.972857 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF173 His1248Leu H1248L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF173 Ala1229Val A1229V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF173 Leu1056Val L1056V not reviewed Insufficiently evaluated not reviewed unknown Array rs11580409 3605 10758 0.335099 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF173 Glu946Lys E946K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF173 His691Arg H691R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305549 748 10758 0.0695297 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF173 Ile636Val I636V not reviewed Insufficiently evaluated not reviewed unknown Array rs17095653 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - C1ORF173 Ser584Ala S584A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF173 Arg555His R555H not reviewed Insufficiently evaluated not reviewed unknown Array rs696698 633 10758 0.0588399 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF173 Pro264Ala P264A not reviewed Insufficiently evaluated not reviewed unknown Array rs11210490 4872 10758 0.452872 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF174 Pro165Ala P165A not reviewed Insufficiently evaluated not reviewed unknown Array rs12036962 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF174 Ala101Ser A101S not reviewed Insufficiently evaluated not reviewed unknown Array rs10909820 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF174 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10752 0.00260417 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF174 Thr53Arg T53R not reviewed Insufficiently evaluated not reviewed unknown Array rs4274008 10680 10746 0.993858 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF174 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C1ORF175 His182Arg H182R not reviewed Insufficiently evaluated not reviewed unknown Array rs11206407 2830 9760 0.289959 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF175 Tyr306Asp Y306D not reviewed Insufficiently evaluated not reviewed unknown Array rs1655519 3744 10522 0.355826 43 0 49 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF175 Ser312Phe S312F not reviewed Insufficiently evaluated not reviewed unknown Array rs17399810 2047 10586 0.193369 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C1ORF175 Glu316Gly E316G not reviewed Insufficiently evaluated not reviewed unknown Array rs1655518 10144 10594 0.957523 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C1ORF175 Val439Phe V439F not reviewed Insufficiently evaluated not reviewed unknown Array 31 9860 0.00314402 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF175 Val509Ala V509A not reviewed Insufficiently evaluated not reviewed unknown Array rs480963 2888 10524 0.27442 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF175 His618Arg H618R not reviewed Insufficiently evaluated not reviewed unknown Array rs570218 8194 9868 0.830361 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF175 Lys663Arg K663R not reviewed Insufficiently evaluated not reviewed unknown Array 265 9946 0.0266439 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C1ORF175 Val953Gly V953G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF175 Val1099Asp V1099D not reviewed Insufficiently evaluated not reviewed unknown Array rs646356 9076 10264 0.884256 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C1ORF177 Thr19Met T19M not reviewed Insufficiently evaluated not reviewed unknown Array rs72895754 213 10544 0.0202011 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF177 Gly126Cys G126C not reviewed Insufficiently evaluated not reviewed unknown Array rs9782980 6078 10758 0.564975 43 0 58 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF177 Tyr205His Y205H not reviewed Insufficiently evaluated not reviewed unknown Array rs600499 10757 10758 0.999907 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C1ORF182 Ser54Leu S54L not reviewed Insufficiently evaluated not reviewed unknown Array rs41265043 165 10758 0.0153374 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF185 Gly171Arg G171R not reviewed Insufficiently evaluated not reviewed unknown Array rs74080736 23 3234 0.00711193 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF187 Leu37Phe L37F not reviewed Insufficiently evaluated not reviewed unknown Array rs11121804 1440 10758 0.133854 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF187 Gly222Arg G222R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF194 Ser133Phe S133F not reviewed Insufficiently evaluated not reviewed unknown Array rs62623711 233 7820 0.0297954 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF194 Asn84Thr N84T not reviewed Insufficiently evaluated not reviewed unknown Array 58 7820 0.00741688 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF198 Ala144Ser A144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF198 Ala236Ser A236S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF198 Ala274Ser A274S not reviewed Insufficiently evaluated not reviewed unknown Array rs34864456 931 10756 0.0865563 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C1ORF2 Arg440His R440H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF2 Arg536His R536H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF2 Leu438Phe L438F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF2 Leu534Phe L534F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF2 Gly239Asp G239D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF2 Gly335Asp G335D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF2 Phe97Ser F97S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF201 Ile58Val I58V not reviewed Insufficiently evaluated not reviewed unknown Array rs1142057 3648 10758 0.339096 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C1ORF201 Met46Thr M46T not reviewed Insufficiently evaluated not reviewed unknown Array rs12090888 1720 10758 0.159881 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF204 Gln21Glu Q21E not reviewed Insufficiently evaluated not reviewed unknown Array rs2501340 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF210 Ser12Leu S12L not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - C1ORF212 Leu14Val L14V not reviewed Insufficiently evaluated not reviewed unknown Array rs14103 866 10756 0.0805132 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF213 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs665977 8656 10758 0.804611 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF216 Ala37Gly A37G not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF220 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array rs12568310 3106 10728 0.289523 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF222 Glu187Lys E187K not reviewed Insufficiently evaluated not reviewed unknown Array rs28633659 1689 10738 0.157292 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF223 Asp104Glu D104E not reviewed Insufficiently evaluated not reviewed unknown Array rs614486 1097 3234 0.339208 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF223 Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array rs1025806 804 3234 0.248609 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF227 Ile8Thr I8T not reviewed Insufficiently evaluated not reviewed unknown Array rs10864004 7931 10752 0.73763 46 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF229 Ser210Pro S210P not reviewed Insufficiently evaluated not reviewed unknown Array 1912 5956 0.321021 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF26 Ser43Tyr S43Y not reviewed Insufficiently evaluated not reviewed unknown Array 71 10738 0.00661203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF26 Ile148Val I148V not reviewed Insufficiently evaluated not reviewed unknown Array rs10489579 4832 10758 0.449154 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C1ORF26 Lys303Glu K303E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF26 His536Arg H536R not reviewed Insufficiently evaluated not reviewed unknown Array rs6698109 3386 10758 0.314743 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF26 Leu638Phe L638F not reviewed Insufficiently evaluated not reviewed unknown Array rs2295950 25 10742 0.00232731 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - C1ORF26 Asn821Asp N821D not reviewed Insufficiently evaluated not reviewed unknown Array rs12041704 3968 10690 0.371188 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C1ORF27 Ser251Cys S251C not reviewed Insufficiently evaluated not reviewed unknown Array rs12084264 2483 8720 0.284748 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF38 Lys511Glu K511E not reviewed Insufficiently evaluated not reviewed unknown Array rs3766400 4821 10158 0.474601 31 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF38 Arg226Cys R226C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF38 Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF49 Glu55Gly E55G not reviewed Insufficiently evaluated not reviewed unknown Array 334 10758 0.0310467 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF49 Ala146Gly A146G not reviewed Insufficiently evaluated not reviewed unknown Array rs12079481 427 10758 0.0396914 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF49 Leu171Arg L171R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813636 3928 10758 0.365124 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C1ORF49 Leu171Pro L171P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF50 Ile166Thr I166T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF54 Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF56 Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array 123 10386 0.0118429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF56 Arg49Gln R49Q not reviewed Insufficiently evaluated not reviewed unknown Array 146 10732 0.0136042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF57 Ala92Ser A92S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF58 Pro54Thr P54T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF59 Val39Ile V39I not reviewed Insufficiently evaluated not reviewed unknown Array rs36100901 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C1ORF62 Cys654Tyr C654Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF62 Asn616Lys N616K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF62 Gly582Val G582V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF62 Leu352Val L352V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF62 His255Tyr H255Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF62 Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF62 Ser61Asn S61N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF63 Glu239Gly E239G not reviewed Insufficiently evaluated not reviewed unknown Array rs1043879 2103 10758 0.195482 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C1ORF64 Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C1ORF65 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array 417 9894 0.0421468 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF65 Val195Ala V195A not reviewed Insufficiently evaluated not reviewed unknown Array rs6689850 601 10758 0.0558654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF65 Gly329Asp G329D not reviewed Insufficiently evaluated not reviewed unknown Array rs10907376 2466 10500 0.234857 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C1ORF65 Arg331Trp R331W not reviewed Insufficiently evaluated not reviewed unknown Array rs6682552 526 10468 0.0502484 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF66 Arg238Pro R238P not reviewed Insufficiently evaluated not reviewed unknown Array rs4311877 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF66 Val400Leu V400L not reviewed Insufficiently evaluated not reviewed unknown Array rs4311877 10459 10758 0.972207 47 0 92 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF68 Ser26Thr S26T not reviewed Insufficiently evaluated not reviewed unknown Array rs1332500 1215 3234 0.375696 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF68 Thr159Pro T159P not reviewed Insufficiently evaluated not reviewed unknown Array rs873775 1215 3234 0.375696 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C1ORF69 Gly45Ala G45A not reviewed Insufficiently evaluated not reviewed unknown Array rs55873785 1319 5966 0.221086 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF69 Arg146Trp R146W not reviewed Insufficiently evaluated not reviewed unknown Array rs73095427 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF69 Gly211Ser G211S not reviewed Insufficiently evaluated not reviewed unknown Array rs2298014 2719 10718 0.253685 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF71 Ser28Asn S28N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - C1ORF71 Leu87Ser L87S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF71 Gln183Arg Q183R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C1ORF71 Arg399Cys R399C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - C1ORF74 Leu146Phe L146F not reviewed Insufficiently evaluated not reviewed unknown Array rs7550857 2007 10758 0.186559 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF74 Arg28Thr R28T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF83 Arg89His R89H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF85 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array rs10908495 2553 10758 0.237312 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C1ORF85 Pro203Ser P203S not reviewed Insufficiently evaluated not reviewed unknown Array rs10908496 2450 10758 0.227738 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF85 Val94Ile V94I not reviewed Insufficiently evaluated not reviewed unknown Array rs1570805 833 10758 0.0774307 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C1ORF86 Pro126Ser P126S not reviewed Insufficiently evaluated not reviewed unknown Array rs1058411 2112 10420 0.202687 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1ORF86 Arg17Pro R17P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF87 Lys403Glu K403E not reviewed Insufficiently evaluated not reviewed unknown Array rs626251 5461 10758 0.507622 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF87 Leu185Val L185V not reviewed Insufficiently evaluated not reviewed unknown Array rs12737449 1194 10758 0.110987 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF88 His105Asn H105N not reviewed Insufficiently evaluated not reviewed unknown Array rs2184884 1291 10758 0.120004 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1ORF9 Tyr614Asn Y614N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF9 Tyr658Asn Y658N not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF92 Val26Ala V26A not reviewed Insufficiently evaluated not reviewed unknown Array rs41273221 486 3222 0.150838 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF92 Ala297Ser A297S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9964 0.00341228 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF92 Arg483His R483H not reviewed Insufficiently evaluated not reviewed unknown Array rs12119908 1809 10518 0.171991 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF92 Ser503Ala S503A not reviewed Insufficiently evaluated not reviewed unknown Array rs822431 2644 10576 0.25 39 0 48 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C1ORF94 Gln235Glu Q235E not reviewed Insufficiently evaluated not reviewed unknown Array rs1382602 4391 10758 0.408161 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF94 Gln45Glu Q45E not reviewed Insufficiently evaluated not reviewed unknown Array rs1382602 59 124 0.475806 37 0 54 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF94 Asp112Glu D112E not reviewed Insufficiently evaluated not reviewed unknown Array rs1414474 20 126 0.15873 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF94 Asp302Glu D302E not reviewed Insufficiently evaluated not reviewed unknown Array rs1414474 2314 10758 0.215096 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF94 Met320Thr M320T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741807 12 126 0.0952381 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF94 Met510Thr M510T not reviewed Insufficiently evaluated not reviewed unknown Array 1067 10758 0.099182 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1QBP Thr130Met T130M not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - C1QC Gly58Glu G58E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - C1QL4 Arg29His R29H not reviewed Insufficiently evaluated not reviewed unknown Array 30 9244 0.00324535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.811 - - 1 - 1 N - - C1QTNF6 Arg226His R226H not reviewed Insufficiently evaluated not reviewed unknown Array rs17812681 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - C1QTNF6 Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array rs17812699 932 10758 0.0866332 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1QTNF6 Gly55Asp G55D not reviewed Insufficiently evaluated not reviewed unknown Array rs7290488 1543 10758 0.143428 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C1QTNF6 Pro42Arg P42R not reviewed Insufficiently evaluated not reviewed unknown Array rs229526 2578 10758 0.239636 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C1QTNF6 Gly21Val G21V not reviewed Insufficiently evaluated not reviewed unknown Array rs229527 4281 10758 0.397936 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C1QTNF9 Leu6Phe L6F not reviewed Insufficiently evaluated not reviewed unknown Array rs1974332 2313 10758 0.215003 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1QTNF9 Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3751356 1015 10250 0.0990244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1QTNF9 Met219Val M219V not reviewed Insufficiently evaluated not reviewed unknown Array rs3751357 6951 10756 0.646244 32 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1QTNF9 Cys243Ser C243S not reviewed Insufficiently evaluated not reviewed unknown Array 709 10758 0.0659044 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1QTNF9 Met281Val M281V not reviewed Insufficiently evaluated not reviewed unknown Array 1307 10758 0.121491 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1R Gly486Val G486V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1R Gly261Arg G261R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813728 13 9728 0.00133635 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - C1R Thr186Arg T186R not reviewed Insufficiently evaluated not reviewed unknown Array rs4519167 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C1R Glu184Lys E184K not reviewed Insufficiently evaluated not reviewed unknown Array rs1126605 1038 10210 0.101665 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C1R Ser152Leu S152L not reviewed Insufficiently evaluated not reviewed unknown Array rs1801046 2115 10100 0.209406 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C1RL Ser436Arg S436R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - C1RL Ser436Thr S436T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - C1RL Ser436Cys S436C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - C1RL Val285Ile V285I not reviewed Insufficiently evaluated not reviewed unknown Array rs3742089 74 122 0.606557 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C1RL Ala203Thr A203T not reviewed Insufficiently evaluated not reviewed unknown Array rs34796296 572 10758 0.0531697 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C1S Arg119His R119H not reviewed Insufficiently evaluated not reviewed unknown Array rs12146727 1303 10758 0.121119 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - C2 Arg378His R378H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - C2 Arg510His R510H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - C2 Val509Ala V509A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2 Val641Ala V641A not reviewed Insufficiently evaluated not reviewed unknown Array rs36221133 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF103 Gln103Glu Q103E not reviewed Insufficiently evaluated not reviewed unknown Array rs2232264 3112 10758 0.289273 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C20ORF107 Gln74Lys Q74K not reviewed Insufficiently evaluated not reviewed unknown Array rs3209183 7679 10758 0.713794 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C20ORF107 Glu84Lys E84K not reviewed Insufficiently evaluated not reviewed unknown Array 260 10758 0.0241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF107 Glu129Ala E129A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF108 Pro126Ser P126S not reviewed Insufficiently evaluated not reviewed unknown Array rs6099115 3051 10758 0.283603 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF111 Val74Gly V74G not reviewed Insufficiently evaluated not reviewed unknown Array rs9346 2878 10758 0.267522 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C20ORF112 Ser375Phe S375F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C20ORF114 Ile84Val I84V not reviewed Insufficiently evaluated not reviewed unknown Array rs1078761 3697 10758 0.343651 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF114 Thr140Ala T140A not reviewed Insufficiently evaluated not reviewed unknown Array rs34578060 145 10758 0.0134783 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF114 Asp287His D287H not reviewed Insufficiently evaluated not reviewed unknown Array rs34548457 762 10758 0.070831 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF114 Ala295Gly A295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF114 Ser298Pro S298P not reviewed Insufficiently evaluated not reviewed unknown Array rs6120221 1517 10758 0.141011 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF114 Ser313Ile S313I not reviewed Insufficiently evaluated not reviewed unknown Array rs6120222 1328 10758 0.123443 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C20ORF114 Ser479Thr S479T not reviewed Insufficiently evaluated not reviewed unknown Array rs1999663 6156 10758 0.572225 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C20ORF117 Asp594Asn D594N not reviewed Insufficiently evaluated not reviewed unknown Array rs73598376 2 10208 0.000195924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF117 Phe538Ser F538S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C20ORF118 Phe139Val F139V not reviewed Insufficiently evaluated not reviewed unknown Array rs41305821 175 10758 0.016267 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF118 Ser215Ile S215I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C20ORF12 Gly354Ser G354S not reviewed Insufficiently evaluated not reviewed unknown Array rs6035037 2556 9788 0.261136 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C20ORF123 Val553Met V553M not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF123 Gly498Arg G498R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF132 Asp1013Glu D1013E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C20ORF132 Tyr665Cys Y665C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF132 Ile474Thr I474T not reviewed Insufficiently evaluated not reviewed unknown Array rs8115854 1 0 2 0 0 - - - - - - - - - - - - - - Y - - - - 3 - 2 N - - C20ORF132 Ile509Thr I509T not reviewed Insufficiently evaluated not reviewed unknown Array rs8115854 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF132 Lys453Glu K453E not reviewed Insufficiently evaluated not reviewed unknown Array rs1744769 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF132 Lys488Glu K488E not reviewed Insufficiently evaluated not reviewed unknown Array rs1744769 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF132 Asn434Lys N434K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF132 Asn469Lys N469K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF135 Leu10Gln L10Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2281534 565 10674 0.0529324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C20ORF135 Arg160Cys R160C not reviewed Insufficiently evaluated not reviewed unknown Array 161 10734 0.0149991 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C20ORF135 Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array 506 10284 0.0492026 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF144 Gln62Arg Q62R not reviewed Insufficiently evaluated not reviewed unknown Array rs7260921 1000 9768 0.102375 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF151 Leu637Arg L637R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236200 1945 10758 0.180796 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C20ORF151 Glu607Lys E607K not reviewed Insufficiently evaluated not reviewed unknown Array rs6089366 1305 10754 0.12135 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF151 Gln453Arg Q453R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF151 Ala408Thr A408T not reviewed Insufficiently evaluated not reviewed unknown Array rs10888228 1793 10542 0.170082 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C20ORF151 Asp348Asn D348N not reviewed Insufficiently evaluated not reviewed unknown Array rs3810553 2004 9910 0.20222 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C20ORF152 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs17347958 379 10758 0.0352296 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF152 Thr208Ala T208A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C20ORF152 Pro375Ser P375S not reviewed Insufficiently evaluated not reviewed unknown Array rs6060750 2554 10758 0.237405 26 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF165 Arg173Gln R173Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF165 Gly107Val G107V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C20ORF165 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array rs3827040 775 10758 0.0720394 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF166 Val27Ala V27A not reviewed Insufficiently evaluated not reviewed unknown Array rs6062251 6692 10640 0.628947 37 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C20ORF173 Lys194Glu K194E not reviewed Insufficiently evaluated not reviewed unknown Array rs7261862 610 3234 0.188621 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF185 Val228Met V228M not reviewed Insufficiently evaluated not reviewed unknown Array rs4911290 3776 10758 0.350995 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF185 Thr290Met T290M not reviewed Insufficiently evaluated not reviewed unknown Array rs2093066 1824 10758 0.169548 21 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C20ORF185 His334Gln H334Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6057717 3647 10758 0.339004 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C20ORF185 Val435Met V435M not reviewed Insufficiently evaluated not reviewed unknown Array rs73262178 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF185 Pro449Ser P449S not reviewed Insufficiently evaluated not reviewed unknown Array rs378098 1970 10758 0.18312 23 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF186 Arg69Pro R69P not reviewed Insufficiently evaluated not reviewed unknown Array rs13036385 2428 10758 0.225693 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C20ORF186 Asp199Gly D199G not reviewed Insufficiently evaluated not reviewed unknown Array rs4339026 2551 10744 0.237435 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C20ORF186 Gly206Trp G206W not reviewed Insufficiently evaluated not reviewed unknown Array 1025 10740 0.0954376 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF186 Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array rs2070325 3525 10758 0.327663 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF186 Asn320Thr N320T not reviewed Insufficiently evaluated not reviewed unknown Array rs2889732 4529 10758 0.420989 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C20ORF186 Phe527Leu F527L not reviewed Insufficiently evaluated not reviewed unknown Array rs11699009 6865 10758 0.63813 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF186 Thr533Ile T533I not reviewed Insufficiently evaluated not reviewed unknown Array rs11696307 6395 10758 0.594441 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF194 Arg577Gly R577G not reviewed Insufficiently evaluated not reviewed unknown Array rs2422864 8620 9794 0.880131 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C20ORF194 Pro416Leu P416L not reviewed Insufficiently evaluated not reviewed unknown Array rs73577662 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF194 Arg115His R115H not reviewed Insufficiently evaluated not reviewed unknown Array 12 9648 0.00124378 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF195 Ser289Ala S289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF196 Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array rs237422 2922 10758 0.271612 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C20ORF196 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41282138 371 10758 0.034486 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF200 Ile121Val I121V not reviewed Insufficiently evaluated not reviewed unknown Array rs3934574 5730 10758 0.532627 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF201 Glu85Asp E85D not reviewed Insufficiently evaluated not reviewed unknown Array 5 8000 0.000625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C20ORF201 Gly9Trp G9W not reviewed Insufficiently evaluated not reviewed unknown Array rs4431000 1514 4254 0.3559 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF201 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF26 His254Arg H254R not reviewed Insufficiently evaluated not reviewed unknown Array rs6075614 1158 10758 0.107641 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C20ORF26 Val369Ile V369I not reviewed Insufficiently evaluated not reviewed unknown Array rs6081901 5982 10758 0.556051 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF26 Val671Ile V671I not reviewed Insufficiently evaluated not reviewed unknown Array rs6046740 251 10758 0.0233315 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF26 Val886Leu V886L not reviewed Insufficiently evaluated not reviewed unknown Array 473 10758 0.0439673 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF26 Cys1148Tyr C1148Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF26 Cys1148Trp C1148W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF26 Leu1149Met L1149M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF26 Ile1178Val I1178V not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF3 Leu163Phe L163F not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF3 Ile65Val I65V not reviewed Insufficiently evaluated not reviewed unknown Array rs17298715 446 10758 0.0414575 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - C20ORF43 Met171Val M171V not reviewed Insufficiently evaluated not reviewed unknown Array rs1059768 8680 10758 0.806841 55 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF54 Leu350Met L350M not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF54 Ile303Val I303V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746802 1061 10758 0.0986243 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF54 Thr278Met T278M not reviewed Insufficiently evaluated not reviewed unknown Array rs3746803 1062 10758 0.0987172 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C20ORF54 Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array rs3746804 2137 10758 0.198643 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF54 Asp174Gly D174G not reviewed Insufficiently evaluated not reviewed unknown Array rs6054614 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF54 Ile74Met I74M not reviewed Insufficiently evaluated not reviewed unknown Array rs35655964 758 10736 0.0706036 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C20ORF70 Ala175Thr A175T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF70 Arg221Cys R221C not reviewed Insufficiently evaluated not reviewed unknown Array rs6120140 775 10758 0.0720394 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C20ORF70 Val236Leu V236L not reviewed Insufficiently evaluated not reviewed unknown Array rs1075435 927 10758 0.0861684 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF71 His22Gln H22Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73904636 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF71 Val100Ile V100I not reviewed Insufficiently evaluated not reviewed unknown Array rs3818222 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF71 Val136Ile V136I not reviewed Insufficiently evaluated not reviewed unknown Array rs3818222 6296 10758 0.585239 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF72 Ser15Cys S15C not reviewed Insufficiently evaluated not reviewed unknown Array rs11551768 1199 10758 0.111452 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF72 Ser315Phe S315F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C20ORF74 Asn1488Ser N1488S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF79 Pro99Ser P99S not reviewed Insufficiently evaluated not reviewed unknown Array rs1053839 2622 10758 0.243726 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF85 Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array rs16984945 76 10758 0.00706451 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C20ORF85 Arg34Gln R34Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF85 Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array rs17440813 729 10758 0.0677635 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF94 Lys176Glu K176E not reviewed Insufficiently evaluated not reviewed unknown Array rs73075324 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF94 Gly260Glu G260E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF94 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6077853 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF96 Ile305Phe I305F not reviewed Insufficiently evaluated not reviewed unknown Array rs3827147 7070 10758 0.657185 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C21ORF2 Gln236Arg Q236R not reviewed Insufficiently evaluated not reviewed unknown Array rs11552066 927 10668 0.0868954 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C21ORF2 Arg212Lys R212K not reviewed Insufficiently evaluated not reviewed unknown Array rs62000360 208 10612 0.0196005 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C21ORF2 Thr150Ile T150I not reviewed Insufficiently evaluated not reviewed unknown Array rs2277809 233 10754 0.0216664 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C21ORF29 Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF33 Val6Ala V6A not reviewed Insufficiently evaluated not reviewed unknown Array rs968714 7067 10732 0.658498 41 0 64 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 1 N - - C21ORF33 Val148Met V148M not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - C21ORF33 Leu217Val L217V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - C21ORF33 Leu248Val L248V not reviewed Insufficiently evaluated not reviewed unknown Array rs2838497 859 10758 0.0798476 16 0 18 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - C21ORF34 Ile22Thr I22T not reviewed Insufficiently evaluated not reviewed unknown Array rs62219500 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C21ORF56 Ser144Asn S144N not reviewed Insufficiently evaluated not reviewed unknown Array rs14378 2 36 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C21ORF56 Ser298Asn S298N not reviewed Insufficiently evaluated not reviewed unknown Array 1168 10710 0.109057 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C21ORF56 Val116Leu V116L not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C21ORF56 Val270Leu V270L not reviewed Insufficiently evaluated not reviewed unknown Array 331 10726 0.0308596 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C21ORF56 Glu231Lys E231K not reviewed Insufficiently evaluated not reviewed unknown Array 676 10716 0.0630832 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C21ORF56 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C21ORF56 Ala193Thr A193T not reviewed Insufficiently evaluated not reviewed unknown Array 663 10672 0.0621252 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C21ORF56 Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 3 100 0.03 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF56 Ser134Phe S134F not reviewed Insufficiently evaluated not reviewed unknown Array 52 3234 0.0160792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C21ORF57 Arg150Leu R150L not reviewed Insufficiently evaluated not reviewed unknown Array 419 10156 0.0412564 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C21ORF58 Pro194Ser P194S not reviewed Insufficiently evaluated not reviewed unknown Array rs13047478 2749 10294 0.267049 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C21ORF58 Arg42Cys R42C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C21ORF62 Asn182Lys N182K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF62 Leu181Stop L181X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C21ORF63 Cys112Ser C112S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C21ORF63 Tyr227Asp Y227D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C21ORF66 Arg92Leu R92L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C21ORF7 Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746843 26 10758 0.00241681 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C21ORF70 Ser161Ile S161I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294168 1245 10684 0.116529 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C21ORF70 Val212Leu V212L not reviewed Insufficiently evaluated not reviewed unknown Array rs3737075 1831 10576 0.173128 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C21ORF91 Asp136Glu D136E not reviewed Insufficiently evaluated not reviewed unknown Array rs1047978 2467 9536 0.258704 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C21ORF91 Asn115Lys N115K not reviewed Insufficiently evaluated not reviewed unknown Array rs2824495 1920 9506 0.201978 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C21ORF91 Gly72Val G72V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9508 0.000105174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C22ORF23 Thr217Ile T217I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C22ORF23 Met136Leu M136L not reviewed Insufficiently evaluated not reviewed unknown Array rs35562630 448 10758 0.0416434 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C22ORF24 His11Leu H11L not reviewed Insufficiently evaluated not reviewed unknown Array rs1984388 1855 10066 0.184284 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C22ORF25 Asp211His D211H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C22ORF26 Gln137Arg Q137R not reviewed Insufficiently evaluated not reviewed unknown Array rs59929908 463 5102 0.0907487 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C22ORF26 Pro28Leu P28L not reviewed Insufficiently evaluated not reviewed unknown Array 3333 9712 0.343184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C22ORF28 Ile287Val I287V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C22ORF28 Pro76Thr P76T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C22ORF29 Asp123Tyr D123Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34027839 216 10758 0.0200781 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - C22ORF29 Arg116His R116H not reviewed Insufficiently evaluated not reviewed unknown Array rs17745302 559 10758 0.0519613 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C22ORF29 Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF30 Val1784Ile V1784I not reviewed Insufficiently evaluated not reviewed unknown Array rs16989427 150 3234 0.0463822 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C22ORF30 Ser1221Leu S1221L not reviewed Insufficiently evaluated not reviewed unknown Array rs140078 891 3234 0.27551 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C22ORF30 Asp963Asn D963N not reviewed Insufficiently evaluated not reviewed unknown Array rs9619227 28 3234 0.00865801 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C22ORF30 Thr961Ile T961I not reviewed Insufficiently evaluated not reviewed unknown Array rs140079 291 3234 0.0899814 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C22ORF30 Asn462Ser N462S not reviewed Insufficiently evaluated not reviewed unknown Array rs73884207 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF30 Asn455Ser N455S not reviewed Insufficiently evaluated not reviewed unknown Array rs140081 891 3234 0.27551 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C22ORF30 Gly227Glu G227E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF30 Val186Leu V186L not reviewed Insufficiently evaluated not reviewed unknown Array 67 3234 0.0207174 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF31 Cys46Arg C46R not reviewed Insufficiently evaluated not reviewed unknown Array rs9625679 938 10758 0.0871909 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C22ORF33 Tyr184Cys Y184C not reviewed Insufficiently evaluated not reviewed unknown Array rs9610624 11 128 0.0859375 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C22ORF36 Arg222Gln R222Q not reviewed Insufficiently evaluated not reviewed unknown Array 95 10528 0.00902356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF36 Gly130Ala G130A not reviewed Insufficiently evaluated not reviewed unknown Array 61 10454 0.00583509 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF40 Leu70Arg L70R not reviewed Insufficiently evaluated not reviewed unknown Array rs55641018 1351 10758 0.125581 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C22ORF40 Val5Ala V5A not reviewed Insufficiently evaluated not reviewed unknown Array rs9627281 3819 10758 0.354992 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C22ORF40 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748935 1035 10758 0.0962075 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C22ORF41 Leu88Pro L88P not reviewed Insufficiently evaluated not reviewed unknown Array rs6009989 229 3234 0.0708101 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C22ORF42 Ser158Phe S158F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C22ORF42 Thr152Met T152M not reviewed Insufficiently evaluated not reviewed unknown Array rs72502004 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C22ORF42 Met120Ile M120I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10686 0.00308815 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C22ORF42 Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array rs5998267 6239 10758 0.57994 41 0 63 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C22ORF42 Pro70Leu P70L not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF43 Ile4Thr I4T not reviewed Insufficiently evaluated not reviewed unknown Array rs3827318 1274 9836 0.129524 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2CD2 Thr463Ala T463A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2CD2 Thr618Ala T618A not reviewed Insufficiently evaluated not reviewed unknown Array rs9981024 635 10758 0.0590258 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C2CD2 Val211Ala V211A not reviewed Insufficiently evaluated not reviewed unknown Array rs2839421 806 10758 0.074921 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2CD2 Val56Ala V56A not reviewed Insufficiently evaluated not reviewed unknown Array rs2839421 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2CD2 Arg48Gly R48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - C2CD2L Arg413Trp R413W not reviewed Insufficiently evaluated not reviewed unknown Array rs2239896 444 10756 0.0412793 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.112 - - 7 Y 0 N - - C2CD3 Arg1832Gly R1832G not reviewed Insufficiently evaluated not reviewed unknown Array rs1632242 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.883 - - 6 Y 1 N - - C2CD3 Gly1831Trp G1831W not reviewed Insufficiently evaluated not reviewed unknown Array rs1632245 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - C2CD3 Ser1663Asn S1663N not reviewed Insufficiently evaluated not reviewed unknown Array rs12419308 561 10758 0.0521472 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 - 2 - - C2CD3 Asp1346Ala D1346A not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 5 Y 0 N - - C2CD3 Tyr1297Cys Y1297C not reviewed Insufficiently evaluated not reviewed unknown Array rs1095423 479 10758 0.044525 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - C2CD3 Arg1219Gln R1219Q not reviewed Insufficiently evaluated not reviewed unknown Array rs826058 4058 10758 0.377208 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2CD3 Phe1050Leu F1050L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - C2CD3 Arg997Gln R997Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11235995 2368 10758 0.220115 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2CD3 Pro773Arg P773R not reviewed Insufficiently evaluated not reviewed unknown Array rs34050666 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 2 - 4 - - C2CD3 His240Asp H240D not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - C2ORF16 Val563Ala V563A not reviewed Insufficiently evaluated not reviewed unknown Array 257 9748 0.0263644 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF16 Thr655Ser T655S not reviewed Insufficiently evaluated not reviewed unknown Array rs1919125 5436 9720 0.559259 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C2ORF16 Ala660Glu A660E not reviewed Insufficiently evaluated not reviewed unknown Array rs1919126 5456 9742 0.560049 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF16 Val685Ala V685A not reviewed Insufficiently evaluated not reviewed unknown Array rs1919127 2380 9666 0.246224 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF16 Ile774Val I774V not reviewed Insufficiently evaluated not reviewed unknown Array rs1919128 2002 9508 0.21056 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C2ORF16 Ser1665Pro S1665P not reviewed Insufficiently evaluated not reviewed unknown Array rs28381983 5746 9768 0.588247 30 0 54 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF16 Gly1680Ser G1680S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF16 Cys1687Arg C1687R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9810 0.000101936 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C2ORF18 Phe65Leu F65L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF21 Ser1035Phe S1035F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF21 Ser1819Cys S1819C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF24 Leu383Pro L383P not reviewed Insufficiently evaluated not reviewed unknown Array rs4674361 10708 10758 0.995352 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF24 Pro366Leu P366L not reviewed Insufficiently evaluated not reviewed unknown Array rs17655123 1066 10758 0.099089 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF24 Pro366His P366H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - C2ORF24 Leu292Pro L292P not reviewed Insufficiently evaluated not reviewed unknown Array rs1127102 5286 10758 0.491355 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF24 Ile262Thr I262T not reviewed Insufficiently evaluated not reviewed unknown Array rs1043160 5417 10756 0.503626 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF28 Gly32Arg G32R not reviewed Insufficiently evaluated not reviewed unknown Array rs11556163 708 9380 0.0754797 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C2ORF28 Asp60Gly D60G not reviewed Insufficiently evaluated not reviewed unknown Array rs1275533 9120 10094 0.903507 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C2ORF28 Asp103His D103H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF28 Asp216His D216H not reviewed Insufficiently evaluated not reviewed unknown Array rs11556165 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF28 Ala151Ser A151S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF28 Ala264Ser A264S not reviewed Insufficiently evaluated not reviewed unknown Array rs7437 724 10758 0.0672988 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C2ORF29 Arg492Leu R492L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF3 Asn688Ser N688S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF3 Thr594Ala T594A not reviewed Insufficiently evaluated not reviewed unknown Array rs6722682 2705 10758 0.251441 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C2ORF3 Asn249Ser N249S not reviewed Insufficiently evaluated not reviewed unknown Array rs7560262 6033 10670 0.565417 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2ORF3 Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array rs10177030 992 8722 0.113735 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C2ORF30 Val318Leu V318L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF37 His185Gln H185Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF39 Tyr58His Y58H not reviewed Insufficiently evaluated not reviewed unknown Array 267 10758 0.0248187 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF39 Lys357Glu K357E not reviewed Insufficiently evaluated not reviewed unknown Array rs3795958 1327 10758 0.12335 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2ORF39 Trp399Arg W399R not reviewed Insufficiently evaluated not reviewed unknown Array rs61509377 10737 10758 0.998048 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF39 Ala475Val A475V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF39 Val633Phe V633F not reviewed Insufficiently evaluated not reviewed unknown Array rs12623642 596 10758 0.0554006 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF39 Ser702Ile S702I not reviewed Insufficiently evaluated not reviewed unknown Array rs3172008 1421 10758 0.132088 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C2ORF39 Val734Met V734M not reviewed Insufficiently evaluated not reviewed unknown Array rs35313480 469 10758 0.0435955 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF42 Gln314Pro Q314P not reviewed Insufficiently evaluated not reviewed unknown Array rs3213941 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - C2ORF43 Ala64Val A64V not reviewed Insufficiently evaluated not reviewed unknown Array rs59016147 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF44 Thr102Met T102M not reviewed Insufficiently evaluated not reviewed unknown Array rs3731620 1263 10758 0.117401 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF48 Trp119Ser W119S not reviewed Insufficiently evaluated not reviewed unknown Array rs7423163 711 10758 0.0660904 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 1 - - C2ORF49 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF51 Asp24Asn D24N not reviewed Insufficiently evaluated not reviewed unknown Array rs35750657 225 10758 0.0209147 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - C2ORF51 Tyr68His Y68H not reviewed Insufficiently evaluated not reviewed unknown Array rs58534105 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - C2ORF53 Pro106Ser P106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF53 Pro67Leu P67L not reviewed Insufficiently evaluated not reviewed unknown Array 430 10758 0.0399703 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF53 Pro50Arg P50R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739485 228 10756 0.0211975 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF54 Gln269Arg Q269R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF54 Gln437Arg Q437R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10006 0.00039976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF54 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C2ORF54 Ile388Val I388V not reviewed Insufficiently evaluated not reviewed unknown Array rs11899555 1385 8546 0.162064 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C2ORF54 Asn178Asp N178D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF54 Asn346Asp N346D not reviewed Insufficiently evaluated not reviewed unknown Array 83 10412 0.00797157 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF54 Pro175Leu P175L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF54 Pro343Leu P343L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10484 9.5383e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF54 Leu141Pro L141P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF54 Leu309Pro L309P not reviewed Insufficiently evaluated not reviewed unknown Array rs6707568 10115 10252 0.986637 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF54 Leu139Phe L139F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF54 Leu307Phe L307F not reviewed Insufficiently evaluated not reviewed unknown Array 57 10276 0.00554691 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF54 Arg12Ser R12S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF54 Arg180Ser R180S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10610 0.00367578 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF54 Ala170Thr A170T not reviewed Insufficiently evaluated not reviewed unknown Array rs4359646 1907 10718 0.177925 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C2ORF55 Arg893Gln R893Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73962467 56 9692 0.00577796 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF55 Thr739Ala T739A not reviewed Insufficiently evaluated not reviewed unknown Array rs61042973 162 8876 0.0182515 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF55 Ser315Cys S315C not reviewed Insufficiently evaluated not reviewed unknown Array rs3731660 104 6788 0.0153212 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - C2ORF55 Ala105Thr A105T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737030 86 9834 0.00874517 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF56 Gly8Asp G8D not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C2ORF56 Arg17His R17H not reviewed Insufficiently evaluated not reviewed unknown Array rs72875762 205 10758 0.0190556 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF56 Pro39Ala P39A not reviewed Insufficiently evaluated not reviewed unknown Array rs2714473 831 10758 0.0772448 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF56 Glu169Lys E169K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C2ORF56 Glu267Lys E267K not reviewed Insufficiently evaluated not reviewed unknown Array rs60932599 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF57 Val11Leu V11L not reviewed Insufficiently evaluated not reviewed unknown Array rs16828251 425 10758 0.0395055 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF57 Gln79Arg Q79R not reviewed Insufficiently evaluated not reviewed unknown Array rs16828254 426 10758 0.0395984 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF57 Ser261Pro S261P not reviewed Insufficiently evaluated not reviewed unknown Array rs10933378 9850 10758 0.915598 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF57 Arg386Cys R386C not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - C2ORF60 Ser50Gly S50G not reviewed Insufficiently evaluated not reviewed unknown Array rs10497844 264 9750 0.0270769 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF61 Glu62Gly E62G not reviewed Insufficiently evaluated not reviewed unknown Array rs71423949 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF61 Gln31Arg Q31R not reviewed Insufficiently evaluated not reviewed unknown Array rs17036300 1474 10748 0.137142 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2ORF61 Leu17Met L17M not reviewed Insufficiently evaluated not reviewed unknown Array rs815804 1966 10758 0.182748 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C2ORF61 Asp16Glu D16E not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C2ORF62 Gln118His Q118H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF63 Ala381Val A381V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF63 Ala503Val A503V not reviewed Insufficiently evaluated not reviewed unknown Array rs14026 5462 10754 0.507904 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF63 Val304Ile V304I not reviewed Insufficiently evaluated not reviewed unknown Array rs6716066 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C2ORF63 Val426Ile V426I not reviewed Insufficiently evaluated not reviewed unknown Array rs6716066 10576 10758 0.983082 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C2ORF63 Thr291Ile T291I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF63 Thr413Ile T413I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF63 Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array rs9677948 2925 10752 0.272042 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF63 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array rs9677948 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF63 Ile74Val I74V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10752 0.0046503 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C2ORF67 Ser689Leu S689L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF7 Ala111Pro A111P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF70 Gln66His Q66H not reviewed Insufficiently evaluated not reviewed unknown Array rs13002673 2470 10392 0.237683 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C2ORF70 Pro78Ala P78A not reviewed Insufficiently evaluated not reviewed unknown Array 179 10330 0.0173282 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF71 Pro1254Leu P1254L not reviewed Insufficiently evaluated not reviewed unknown Array rs1975713 46 9984 0.00460737 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - C2ORF71 Ser1241Phe S1241F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF71 Glu1132Ala E1132A not reviewed Insufficiently evaluated not reviewed unknown Array 19 9964 0.00190686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF71 Pro1060Thr P1060T not reviewed Insufficiently evaluated not reviewed unknown Array rs72861054 21 9470 0.00221753 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C2ORF71 Leu792Val L792V not reviewed Insufficiently evaluated not reviewed unknown Array rs17744093 1688 9830 0.171719 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2ORF71 Thr580Met T580M not reviewed Insufficiently evaluated not reviewed unknown Array rs10166913 1596 10318 0.154681 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF71 Ala252Asp A252D not reviewed Insufficiently evaluated not reviewed unknown Array 184 10120 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF71 Pro62Ala P62A not reviewed Insufficiently evaluated not reviewed unknown Array 21 9950 0.00211055 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF71 Arg29Trp R29W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF71 Ser13Cys S13C not reviewed Insufficiently evaluated not reviewed unknown Array rs10084168 540 10042 0.0537741 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF73 His29Asn H29N not reviewed Insufficiently evaluated not reviewed unknown Array rs55714450 2743 9470 0.289652 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C2ORF73 Pro254Leu P254L not reviewed Insufficiently evaluated not reviewed unknown Array rs2280718 7461 9758 0.764603 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF73 Arg275Thr R275T not reviewed Insufficiently evaluated not reviewed unknown Array rs13184 2038 9578 0.212779 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF74 Tyr37Asp Y37D not reviewed Insufficiently evaluated not reviewed unknown Array rs1729674 1511 3234 0.467223 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF76 Lys116Arg K116R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052500 6858 9490 0.722655 46 0 76 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C2ORF76 Thr105Asn T105N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF76 Ile46Val I46V not reviewed Insufficiently evaluated not reviewed unknown Array rs6542522 6623 9422 0.702929 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C2ORF77 Pro537Ser P537S not reviewed Insufficiently evaluated not reviewed unknown Array rs17544587 908 9524 0.0953381 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF78 Glu310Lys E310K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF80 Ser152Gly S152G not reviewed Insufficiently evaluated not reviewed unknown Array rs10804166 8787 9846 0.892444 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF80 Cys130Arg C130R not reviewed Insufficiently evaluated not reviewed unknown Array rs6435421 9759 9926 0.983176 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C2ORF81 Thr571Ser T571S not reviewed Insufficiently evaluated not reviewed unknown Array 23 3234 0.00711193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C2ORF83 Trp141Stop W141X not reviewed Insufficiently evaluated not reviewed unknown Array rs2176186 3020 10758 0.280721 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - C2ORF83 Glu104Gln E104Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2138402 8815 10758 0.81939 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C2ORF83 Ser45Leu S45L not reviewed Insufficiently evaluated not reviewed unknown Array rs28739019 1930 6172 0.312703 35 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C2ORF84 Tyr140Cys Y140C not reviewed Insufficiently evaluated not reviewed unknown Array rs2288073 2400 9602 0.249948 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C2ORF85 Gly101Glu G101E not reviewed Insufficiently evaluated not reviewed unknown Array rs7420371 3178 9542 0.333054 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C2ORF85 Pro107Leu P107L not reviewed Insufficiently evaluated not reviewed unknown Array 689 9600 0.0717708 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF85 Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array rs28378061 1138 9996 0.113846 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF85 Ala264Val A264V not reviewed Insufficiently evaluated not reviewed unknown Array rs74000573 159 9794 0.0162344 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF85 Leu311Pro L311P not reviewed Insufficiently evaluated not reviewed unknown Array 109 9912 0.0109968 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF85 Pro426Ser P426S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10136 9.8658e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF85 Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array rs28368764 139 10182 0.0136515 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF85 Arg484Cys R484C not reviewed Insufficiently evaluated not reviewed unknown Array 400 10304 0.0388199 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C2ORF88 Thr56Ile T56I not reviewed Insufficiently evaluated not reviewed unknown Array rs6753459 3066 9982 0.307153 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C3 Gln1055Stop Q1055X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - C3 Pro314Leu P314L not reviewed Insufficiently evaluated not reviewed unknown Array rs1047286 1566 10758 0.145566 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.159 Y - 7 Y 2 - 9 - - C3 Arg102Gly R102G pathogenic Moderate clinical importance, Likely pathogenic other Array rs2230199 1636 10758 0.152073 10 0 11 2 2 1 Y 1 Y 5 Y - - 3 Y 2 Y Y Y - - 0.044 Y - 6 Y 3 N 10 1 1 This variant (also called C3F) is common in Europeans (10.2% allele frequency), and is associated with age-related macular degeneration. In the US, 1.5% of adults over 40 have the disease, but the incidence increases strongly with age (>15% in women over 80). Assuming an average lifetime risk of ~10%, heterozygous individuals have a ~13% risk and homozygous have ~20%. C3AR1 Glu279Lys E279K not reviewed Insufficiently evaluated not reviewed unknown Array rs56297048 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF1 Asn76Asp N76D not reviewed Insufficiently evaluated not reviewed unknown Array rs11539377 1850 10758 0.171965 20 0 29 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C3ORF1 Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array rs57168946 1280 10758 0.118981 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C3ORF15 Ala207Pro A207P not reviewed Insufficiently evaluated not reviewed unknown Array rs6438544 9679 10758 0.899703 53 0 95 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF15 Ser253Thr S253T not reviewed Insufficiently evaluated not reviewed unknown Array rs9817771 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C3ORF15 Ser320Cys S320C not reviewed Insufficiently evaluated not reviewed unknown Array rs9819218 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - C3ORF15 Arg377His R377H not reviewed Insufficiently evaluated not reviewed unknown Array rs72965006 175 10758 0.016267 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF15 Arg465His R465H not reviewed Insufficiently evaluated not reviewed unknown Array rs59489029 432 10758 0.0401562 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF15 Ala656Thr A656T not reviewed Insufficiently evaluated not reviewed unknown Array rs9853426 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF16 Arg530Stop R530X not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C3ORF16 Ser386Gly S386G not reviewed Insufficiently evaluated not reviewed unknown Array rs7610425 1153 3234 0.356524 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF16 Arg130Stop R130X not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C3ORF17 Ser354Pro S354P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF17 Ser393Pro S393P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF17 Ser490Pro S490P not reviewed Insufficiently evaluated not reviewed unknown Array rs7628368 642 10758 0.0596765 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C3ORF17 Thr340Ala T340A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF17 Thr379Ala T379A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF17 Thr476Ala T476A not reviewed Insufficiently evaluated not reviewed unknown Array rs3732813 543 10758 0.0504741 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C3ORF17 Phe221Ile F221I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF17 Phe260Ile F260I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF17 Phe357Ile F357I not reviewed Insufficiently evaluated not reviewed unknown Array rs2306857 6616 10756 0.615099 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF17 Pro216Ser P216S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF17 Pro255Ser P255S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF17 Pro352Ser P352S not reviewed Insufficiently evaluated not reviewed unknown Array rs2306858 547 10756 0.0508553 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C3ORF17 Glu101Lys E101K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - C3ORF17 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - C3ORF18 Ala162Val A162V not reviewed Insufficiently evaluated not reviewed unknown Array rs1034405 8707 10738 0.810859 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF19 Ser159Asn S159N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF19 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C3ORF19 Thr436Met T436M not reviewed Insufficiently evaluated not reviewed unknown Array rs60239620 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF20 Asp65Asn D65N not reviewed Insufficiently evaluated not reviewed unknown Array rs9821143 3620 10758 0.336494 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C3ORF20 Gln205Arg Q205R not reviewed Insufficiently evaluated not reviewed unknown Array rs34230332 540 10758 0.0501952 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF20 Ala298Thr A298T not reviewed Insufficiently evaluated not reviewed unknown Array rs17040196 4580 10758 0.42573 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C3ORF20 Ile407Val I407V not reviewed Insufficiently evaluated not reviewed unknown Array rs6765537 4561 10758 0.423964 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C3ORF20 Leu422Val L422V not reviewed Insufficiently evaluated not reviewed unknown Array rs6790129 4580 10758 0.42573 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF20 Arg680His R680H not reviewed Insufficiently evaluated not reviewed unknown Array rs61736141 281 10758 0.0261201 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF21 Arg276Pro R276P not reviewed Insufficiently evaluated not reviewed unknown Array rs62290268 2 9308 0.000214868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - C3ORF24 Leu64Pro L64P not reviewed Insufficiently evaluated not reviewed unknown Array rs60245764 368 10758 0.0342071 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF25 Arg340Trp R340W not reviewed Insufficiently evaluated not reviewed unknown Array rs73202271 909 10500 0.0865714 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C3ORF25 Thr322Met T322M not reviewed Insufficiently evaluated not reviewed unknown Array rs73865436 164 10510 0.0156042 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF25 His280Arg H280R not reviewed Insufficiently evaluated not reviewed unknown Array rs9836111 367 10208 0.0359522 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF25 Arg197His R197H not reviewed Insufficiently evaluated not reviewed unknown Array rs62266958 468 9842 0.0475513 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF25 Glu66Gly E66G not reviewed Insufficiently evaluated not reviewed unknown Array rs3774787 340 9924 0.0342604 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF26 Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array rs11537816 1440 10758 0.133854 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C3ORF30 Asp99Gly D99G not reviewed Insufficiently evaluated not reviewed unknown Array rs11550908 1398 10758 0.12995 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C3ORF30 Glu192Lys E192K not reviewed Insufficiently evaluated not reviewed unknown Array rs56787024 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF30 Gln193His Q193H not reviewed Insufficiently evaluated not reviewed unknown Array rs9859242 293 10758 0.0272355 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF30 Gly312Ser G312S not reviewed Insufficiently evaluated not reviewed unknown Array rs4077930 2023 10758 0.188046 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF30 Arg366His R366H not reviewed Insufficiently evaluated not reviewed unknown Array 205 10758 0.0190556 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF30 Ser447Leu S447L not reviewed Insufficiently evaluated not reviewed unknown Array rs56317615 2463 10758 0.228946 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C3ORF30 Asp473Glu D473E not reviewed Insufficiently evaluated not reviewed unknown Array rs9289122 5094 10756 0.473596 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C3ORF31 Ile179Val I179V not reviewed Insufficiently evaluated not reviewed unknown Array rs11551661 1074 10758 0.0998327 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C3ORF31 Asn116Ser N116S not reviewed Insufficiently evaluated not reviewed unknown Array rs7641243 1410 10756 0.13109 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF32 Arg246Trp R246W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF32 Ser237Asn S237N not reviewed Insufficiently evaluated not reviewed unknown Array rs59315778 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF32 Pro29Leu P29L not reviewed Insufficiently evaluated not reviewed unknown Array rs2276800 3477 10758 0.323201 11 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C3ORF33 Ser117Asn S117N not reviewed Insufficiently evaluated not reviewed unknown Array rs358733 7604 9576 0.794069 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF34 Met3Val M3V not reviewed Insufficiently evaluated not reviewed unknown Array rs6776064 3583 9834 0.364348 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF35 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 308 9508 0.0323938 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C3ORF35 His107Tyr H107Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17266511 767 9830 0.0780265 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C3ORF36 Arg147Ser R147S not reviewed Insufficiently evaluated not reviewed unknown Array 256 10758 0.0237962 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF36 Thr52Arg T52R not reviewed Insufficiently evaluated not reviewed unknown Array 259 10758 0.0240751 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF37 Glu343Lys E343K not reviewed Insufficiently evaluated not reviewed unknown Array rs60527165 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF38 His220Arg H220R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF43 Glu206Lys E206K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF43 Met71Thr M71T not reviewed Insufficiently evaluated not reviewed unknown Array rs73891273 459 9584 0.0478923 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF43 Arg64Trp R64W not reviewed Insufficiently evaluated not reviewed unknown Array rs11926701 930 9940 0.0935614 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C3ORF43 His20Tyr H20Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9869292 735 9652 0.07615 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C3ORF44 Arg604His R604H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF44 Val501Leu V501L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF44 Leu426Val L426V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF44 Gly9Val G9V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C3ORF52 Gly144Ser G144S not reviewed Insufficiently evaluated not reviewed unknown Array rs340167 9539 9796 0.973765 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF62 Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array rs13077498 1064 10758 0.0989031 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF62 Val60Met V60M not reviewed Insufficiently evaluated not reviewed unknown Array rs61749312 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF63 Thr1206Ile T1206I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF63 His1173Tyr H1173Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF63 Ile1435Val I1435V not reviewed Insufficiently evaluated not reviewed unknown Array rs2291498 1903 10758 0.176892 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C3ORF63 Ile998Val I998V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C3ORF63 Thr1046Arg T1046R not reviewed Insufficiently evaluated not reviewed unknown Array rs9835332 6425 10758 0.59723 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C3ORF63 Thr609Arg T609R not reviewed Insufficiently evaluated not reviewed unknown Array rs9835332 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF63 Gln38Pro Q38P not reviewed Insufficiently evaluated not reviewed unknown Array rs958755 1739 3192 0.5448 41 0 72 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C3ORF67 Lys558Arg K558R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C3ORF67 Ser404Asn S404N not reviewed Insufficiently evaluated not reviewed unknown Array rs34322986 541 10758 0.0502882 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF67 Asp304Glu D304E not reviewed Insufficiently evaluated not reviewed unknown Array rs35778488 560 10758 0.0520543 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C3ORF70 Pro152Ser P152S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740263 841 10758 0.0781744 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C3ORF70 Pro150Leu P150L not reviewed Insufficiently evaluated not reviewed unknown Array rs61747892 281 10758 0.0261201 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF72 Lys24Arg K24R not reviewed Insufficiently evaluated not reviewed unknown Array rs60136395 97 8678 0.0111777 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C3ORF72 Cys47Gly C47G not reviewed Insufficiently evaluated not reviewed unknown Array rs72976938 23 9918 0.00231902 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF72 Val174Phe V174F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4A Thr907Ala T907A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4A Gly1073Asp G1073D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C4A Ser1286Ala S1286A not reviewed Insufficiently evaluated not reviewed unknown Array 164 2376 0.0690236 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C4B Thr907Ala T907A not reviewed Insufficiently evaluated not reviewed unknown Array rs429329 68 74 0.918919 25 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4B Gly1073Asp G1073D not reviewed Insufficiently evaluated not reviewed unknown Array rs2258218 11 82 0.134146 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C4B Ser1286Ala S1286A not reviewed Insufficiently evaluated not reviewed unknown Array rs9501603 93 98 0.94898 36 0 72 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C4BPA Pro4Gln P4Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55867570 311 10758 0.0289087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - C4BPA Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array rs17020956 325 10758 0.0302101 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.095 - - 2 - 0 N - - C4BPA Arg240His R240H not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C4BPA Ile300Thr I300T not reviewed Insufficiently evaluated not reviewed unknown Array rs4844573 5226 10758 0.485778 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C4ORF14 Ala153Ser A153S not reviewed Insufficiently evaluated not reviewed unknown Array rs3733306 365 9740 0.0374743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C4ORF16 Val49Ala V49A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF17 Gly64Glu G64E not reviewed Insufficiently evaluated not reviewed unknown Array rs13143848 3439 10758 0.319669 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF17 Ser85Pro S85P not reviewed Insufficiently evaluated not reviewed unknown Array rs13119384 4480 10758 0.416434 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C4ORF17 Glu91Lys E91K not reviewed Insufficiently evaluated not reviewed unknown Array rs17029087 2671 10758 0.24828 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF18 Arg390Leu R390L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF18 Arg398Leu R398L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF18 Thr2Ile T2I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4ORF19 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs2973275 2086 10758 0.193902 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF21 Thr978Ile T978I not reviewed Insufficiently evaluated not reviewed unknown Array rs17669218 805 10758 0.074828 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C4ORF21 Ile433Phe I433F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF21 Asn410Ser N410S not reviewed Insufficiently evaluated not reviewed unknown Array rs7696816 4202 10756 0.390666 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF21 Leu48Met L48M not reviewed Insufficiently evaluated not reviewed unknown Array rs61745597 87 10712 0.00812173 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C4ORF22 Val220Ile V220I not reviewed Insufficiently evaluated not reviewed unknown Array rs1052325 8342 10756 0.775567 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C4ORF26 Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array rs2306175 2813 10758 0.26148 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C4ORF26 Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array rs2306174 1225 10758 0.113869 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF27 Arg174Lys R174K not reviewed Insufficiently evaluated not reviewed unknown Array rs1047642 8372 10756 0.778356 55 0 91 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C4ORF29 Ala290Val A290V not reviewed Insufficiently evaluated not reviewed unknown Array rs58225850 114 9734 0.0117115 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF29 Asn307Ser N307S not reviewed Insufficiently evaluated not reviewed unknown Array rs35763794 113 9780 0.0115542 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF29 Ser333Arg S333R not reviewed Insufficiently evaluated not reviewed unknown Array rs60505265 228 9688 0.0235343 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4ORF30 Thr129Ile T129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4ORF31 Leu363Ile L363I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C4ORF31 Lys275Arg K275R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C4ORF32 Gly32Glu G32E not reviewed Insufficiently evaluated not reviewed unknown Array rs10002700 7402 7422 0.997305 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF33 Arg40Met R40M not reviewed Insufficiently evaluated not reviewed unknown Array rs35199409 652 10758 0.0606061 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C4ORF33 Ser104Leu S104L not reviewed Insufficiently evaluated not reviewed unknown Array rs2271570 1649 10756 0.15331 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF33 Met107Val M107V not reviewed Insufficiently evaluated not reviewed unknown Array rs337277 7527 10758 0.699665 45 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF33 His166Arg H166R not reviewed Insufficiently evaluated not reviewed unknown Array rs17351999 1211 10758 0.112567 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF33 Phe171Val F171V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4ORF34 Pro43Leu P43L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF35 Thr211Ile T211I not reviewed Insufficiently evaluated not reviewed unknown Array rs1351419 9705 10756 0.902287 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C4ORF35 Trp298Gly W298G not reviewed Insufficiently evaluated not reviewed unknown Array rs2291182 712 10758 0.0661833 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C4ORF36 Val83Leu V83L not reviewed Insufficiently evaluated not reviewed unknown Array rs72613147 1423 10758 0.132274 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF36 Tyr81Cys Y81C not reviewed Insufficiently evaluated not reviewed unknown Array rs28664715 711 10758 0.0660904 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF36 Ser36Tyr S36Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1550931 9710 10758 0.902584 56 0 100 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C4ORF37 Val420Ala V420A not reviewed Insufficiently evaluated not reviewed unknown Array rs17026871 385 10758 0.0357873 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF37 Lys227Glu K227E not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C4ORF37 Tyr186Cys Y186C not reviewed Insufficiently evaluated not reviewed unknown Array rs28403003 812 10744 0.0755771 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF37 Ile178Val I178V not reviewed Insufficiently evaluated not reviewed unknown Array rs2903150 4433 10740 0.412756 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C4ORF37 Tyr125His Y125H not reviewed Insufficiently evaluated not reviewed unknown Array rs17558193 4451 10756 0.413816 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C4ORF39 His54Arg H54R not reviewed Insufficiently evaluated not reviewed unknown Array rs3733418 1353 10758 0.125767 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF39 Arg131Ser R131S not reviewed Insufficiently evaluated not reviewed unknown Array rs73871552 221 10758 0.0205429 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4ORF40 Ile44Val I44V not reviewed Insufficiently evaluated not reviewed unknown Array rs1612460 888 10758 0.0825432 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C4ORF41 Val660Leu V660L not reviewed Insufficiently evaluated not reviewed unknown Array rs67383011 901 10758 0.0837516 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF41 Thr812Pro T812P not reviewed Insufficiently evaluated not reviewed unknown Array rs62358032 882 10758 0.0819855 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C4ORF41 Gln933His Q933H not reviewed Insufficiently evaluated not reviewed unknown Array rs62617790 1033 10758 0.0960216 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C4ORF41 Val1007Met V1007M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF41 Pro1013Arg P1013R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C4ORF41 Leu1014Phe L1014F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF41 Leu1014His L1014H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF42 Ser19Gly S19G not reviewed Insufficiently evaluated not reviewed unknown Array rs1732115 8344 10756 0.775753 49 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C4ORF42 Tyr173Cys Y173C not reviewed Insufficiently evaluated not reviewed unknown Array rs1564508 4334 10758 0.402863 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF43 Gln65Pro Q65P not reviewed Insufficiently evaluated not reviewed unknown Array rs2304802 3862 9502 0.406441 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C4ORF43 Ile176Thr I176T not reviewed Insufficiently evaluated not reviewed unknown Array rs1561736 4008 9584 0.418197 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C4ORF45 Gly93Glu G93E not reviewed Insufficiently evaluated not reviewed unknown Array rs619128 9319 9498 0.981154 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C4ORF45 Tyr84Cys Y84C not reviewed Insufficiently evaluated not reviewed unknown Array rs17037858 381 9502 0.0400968 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF45 Ser75Gly S75G not reviewed Insufficiently evaluated not reviewed unknown Array rs662473 9375 9526 0.984149 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C4ORF45 Ala46Val A46V not reviewed Insufficiently evaluated not reviewed unknown Array rs17037864 878 9526 0.0921688 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C4ORF47 Ala260Thr A260T not reviewed Insufficiently evaluated not reviewed unknown Array 239 3234 0.0739023 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF48 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array 441 444 0.993243 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C4ORF49 Ala164Val A164V not reviewed Insufficiently evaluated not reviewed unknown Array rs6823412 426 10178 0.041855 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C4ORF50 Ser263Gly S263G not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF50 Val199Met V199M not reviewed Insufficiently evaluated not reviewed unknown Array rs7695618 1240 10758 0.115263 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF50 Ile177Val I177V not reviewed Insufficiently evaluated not reviewed unknown Array rs6839295 3548 10758 0.329801 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C4ORF50 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array rs16837960 4608 10758 0.428332 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C4ORF50 Lys63Glu K63E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF6 Asn15Lys N15K not reviewed Insufficiently evaluated not reviewed unknown Array rs886532 537 10742 0.0499907 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4ORF6 Ala53Pro A53P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF8 Met192Val M192V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF8 Ile1115Val I1115V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C5 Glu1437Asp E1437D not reviewed Insufficiently evaluated not reviewed unknown Array rs17612 585 10758 0.0543781 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.235 - - -2 - 0 N - - C5 Arg1279Lys R1279K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - -3 - 1 N - - C5 Ile1033Thr I1033T not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 3 - 3 - 3 - - C5 Asp966Tyr D966Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2230212 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 1 - 3 - - C5 Val802Ile V802I not reviewed Insufficiently evaluated not reviewed unknown Array rs17611 3473 10758 0.32283 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - C5 Val265Ile V265I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 2 - 3 - - C5 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array rs17216529 1314 10678 0.123057 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.782 - - -4 - 0 N - - C5AR1 Leu150Pro L150P not reviewed Insufficiently evaluated not reviewed unknown Array rs4804049 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5AR1 Arg279Ile R279I not reviewed Insufficiently evaluated not reviewed unknown Array rs11880097 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF13 Glu43Gly E43G not reviewed Insufficiently evaluated not reviewed unknown Array rs11559 9 128 0.0703125 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C5ORF13 Glu77Gly E77G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF13 Glu87Gly E87G not reviewed Insufficiently evaluated not reviewed unknown Array 508 10756 0.0472295 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF20 Arg117Stop R117X not reviewed Insufficiently evaluated not reviewed unknown Array rs12520799 6477 10758 0.602064 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - C5ORF20 Asn97Asp N97D not reviewed Insufficiently evaluated not reviewed unknown Array rs12520809 6480 10758 0.602342 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C5ORF20 Thr75Pro T75P not reviewed Insufficiently evaluated not reviewed unknown Array rs1031844 6449 10758 0.599461 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C5ORF22 Thr235Pro T235P not reviewed Insufficiently evaluated not reviewed unknown Array rs17410000 2786 10758 0.25897 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C5ORF22 Asp405Glu D405E not reviewed Insufficiently evaluated not reviewed unknown Array rs16901277 579 10758 0.0538204 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C5ORF33 Met246Val M246V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF33 Met409Val M409V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF34 Thr32Ser T32S not reviewed Insufficiently evaluated not reviewed unknown Array rs6872851 10702 10758 0.994795 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C5ORF35 Ser76Thr S76T not reviewed Insufficiently evaluated not reviewed unknown Array rs2257505 7106 10758 0.660532 42 0 59 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C5ORF35 Lys209Glu K209E not reviewed Insufficiently evaluated not reviewed unknown Array rs40497 2820 10758 0.26213 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C5ORF36 Ala1188Thr A1188T not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF36 Thr1177Met T1177M not reviewed Insufficiently evaluated not reviewed unknown Array 78 3234 0.0241187 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5ORF36 Asn1151Ser N1151S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF36 Ala851Thr A851T not reviewed Insufficiently evaluated not reviewed unknown Array rs29910 825 3234 0.255102 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C5ORF36 Met287Ile M287I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C5ORF36 Lys46Glu K46E not reviewed Insufficiently evaluated not reviewed unknown Array rs2044909 1325 10754 0.12321 13 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C5ORF37 Pro113Ser P113S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF37 Pro88Ser P88S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF37 Ile60Thr I60T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF37 Ile85Thr I85T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF37 His11Arg H11R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF37 His36Arg H36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF37 Ser21Cys S21C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF39 Phe177Leu F177L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF39 Gln119Arg Q119R not reviewed Insufficiently evaluated not reviewed unknown Array rs1054428 2865 10758 0.266313 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C5ORF4 Gly141Arg G141R not reviewed Insufficiently evaluated not reviewed unknown Array rs17116466 1 5216 0.000191717 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - C5ORF4 Arg66Lys R66K not reviewed Insufficiently evaluated not reviewed unknown Array rs62382170 352 9734 0.0361619 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C5ORF40 Pro166Ala P166A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C5ORF40 Val138Ile V138I not reviewed Insufficiently evaluated not reviewed unknown Array rs10037485 2832 10758 0.263246 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C5ORF40 Ser98Asn S98N not reviewed Insufficiently evaluated not reviewed unknown Array rs35576540 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF42 Pro1626Thr P1626T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF42 Ile1023Val I1023V not reviewed Insufficiently evaluated not reviewed unknown Array rs6884652 10 128 0.078125 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C5ORF42 Phe913Cys F913C not reviewed Insufficiently evaluated not reviewed unknown Array rs10076911 18 128 0.140625 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C5ORF42 Thr719Ala T719A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF42 Ser653Gly S653G not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5ORF42 Gly129Asp G129D not reviewed Insufficiently evaluated not reviewed unknown Array rs72736758 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C5ORF45 Gln176Arg Q176R not reviewed Insufficiently evaluated not reviewed unknown Array rs10277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF45 Gln231Arg Q231R not reviewed Insufficiently evaluated not reviewed unknown Array rs10277 6713 10756 0.624117 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C5ORF45 Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array rs248248 8375 10754 0.77878 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C5ORF45 Arg99Gly R99G not reviewed Insufficiently evaluated not reviewed unknown Array rs248248 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF45 Gln42Arg Q42R not reviewed Insufficiently evaluated not reviewed unknown Array rs1650893 7104 10756 0.660469 50 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C5ORF46 Phe18Ile F18I not reviewed Insufficiently evaluated not reviewed unknown Array rs7722926 3035 10758 0.282116 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C5ORF46 Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C5ORF46 Ser4Leu S4L not reviewed Insufficiently evaluated not reviewed unknown Array rs2250145 4938 10758 0.459007 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C5ORF47 Val140Leu V140L not reviewed Insufficiently evaluated not reviewed unknown Array rs56138314 113 3230 0.0349845 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF49 Pro139Ser P139S not reviewed Insufficiently evaluated not reviewed unknown Array rs326181 300 10100 0.029703 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF49 Arg72Stop R72X not reviewed Insufficiently evaluated not reviewed unknown Array 3 9530 0.000314795 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C5ORF49 Gln68His Q68H not reviewed Insufficiently evaluated not reviewed unknown Array rs6883562 2220 9520 0.233193 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C5ORF52 Arg45Leu R45L not reviewed Insufficiently evaluated not reviewed unknown Array rs11740603 486 3166 0.153506 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C5ORF52 Arg91Gln R91Q not reviewed Insufficiently evaluated not reviewed unknown Array 545 3234 0.168522 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C5ORF52 Thr100Ala T100A not reviewed Insufficiently evaluated not reviewed unknown Array rs6884959 1561 3234 0.482684 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C5ORF54 Ala523Ser A523S not reviewed Insufficiently evaluated not reviewed unknown Array rs10515808 851 10758 0.0791039 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C5ORF55 Arg118Gly R118G not reviewed Insufficiently evaluated not reviewed unknown Array rs10035612 649 9838 0.0659687 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C5ORF55 Gly88Asp G88D not reviewed Insufficiently evaluated not reviewed unknown Array 284 9776 0.0290507 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF55 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array rs10035653 677 10026 0.0675244 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6 Thr812Ile T812I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733158 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - C6 Asp519Asn D519N not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - C6 Lys397Glu K397E not reviewed Insufficiently evaluated not reviewed unknown Array rs6896011 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - C6 Ala119Glu A119E not reviewed Insufficiently evaluated not reviewed unknown Array rs1801033 6499 10758 0.604109 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF1 Gly150Ala G150A not reviewed Insufficiently evaluated not reviewed unknown Array rs1150781 8500 10758 0.79011 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF1 Met141Ile M141I not reviewed Insufficiently evaluated not reviewed unknown Array rs34410712 632 10758 0.058747 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C6ORF10 Lys400Gln K400Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7775397 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF10 Ile315Val I315V not reviewed Insufficiently evaluated not reviewed unknown Array rs3749966 26 128 0.203125 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C6ORF10 Ser227Pro S227P not reviewed Insufficiently evaluated not reviewed unknown Array rs560505 40 128 0.3125 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF10 Pro211Arg P211R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF10 Pro181Leu P181L not reviewed Insufficiently evaluated not reviewed unknown Array rs73396905 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF10 Ser170Pro S170P not reviewed Insufficiently evaluated not reviewed unknown Array rs9405090 41 128 0.320312 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF10 Pro161Leu P161L not reviewed Insufficiently evaluated not reviewed unknown Array rs1003878 33 128 0.257812 27 0 29 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF10 Ile150Phe I150F not reviewed Insufficiently evaluated not reviewed unknown Array rs1265754 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF10 Pro128Leu P128L not reviewed Insufficiently evaluated not reviewed unknown Array rs1033500 2319 7524 0.308214 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF10 Tyr69Cys Y69C not reviewed Insufficiently evaluated not reviewed unknown Array rs9268368 2280 7456 0.305794 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C6ORF10 Tyr36His Y36H not reviewed Insufficiently evaluated not reviewed unknown Array rs9268384 2324 7514 0.309289 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C6ORF10 Cys30Arg C30R not reviewed Insufficiently evaluated not reviewed unknown Array rs3129941 5602 7522 0.744749 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C6ORF103 Ile310Thr I310T not reviewed Insufficiently evaluated not reviewed unknown Array rs9497606 780 3234 0.241187 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF103 Lys373Met K373M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF103 Lys373Asn K373N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF103 Arg374Gly R374G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF103 Ser607Ile S607I not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF103 Ala989Ser A989S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF103 Phe1047Ser F1047S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF103 Glu1621Asp E1621D not reviewed Insufficiently evaluated not reviewed unknown Array rs1052444 953 3232 0.294864 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C6ORF103 His1632Arg H1632R not reviewed Insufficiently evaluated not reviewed unknown Array rs259370 2020 3234 0.624613 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF105 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array rs2076185 477 10758 0.0443391 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF105 Val220Ile V220I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF105 Val124Met V124M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF105 Val142Met V142M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF106 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF106 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF108 Trp83Leu W83L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - C6ORF114 Cys134Ser C134S not reviewed Insufficiently evaluated not reviewed unknown Array rs766773 8137 8896 0.914681 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF114 Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array rs6938119 724 10758 0.0672988 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF118 Val363Leu V363L not reviewed Insufficiently evaluated not reviewed unknown Array rs9459350 1669 10758 0.15514 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF118 Ala309Gly A309G not reviewed Insufficiently evaluated not reviewed unknown Array rs61733397 296 10758 0.0275144 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF118 Gly271Glu G271E not reviewed Insufficiently evaluated not reviewed unknown Array rs17852379 1536 10758 0.142777 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C6ORF118 Ile256Met I256M not reviewed Insufficiently evaluated not reviewed unknown Array rs510579 5254 10758 0.488381 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C6ORF124 Glu205Lys E205K not reviewed Insufficiently evaluated not reviewed unknown Array rs611440 18 110 0.163636 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF126 Cys44Trp C44W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF127 Phe15Ser F15S not reviewed Insufficiently evaluated not reviewed unknown Array rs34109614 3253 10150 0.320493 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C6ORF140 Met16Thr M16T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF140 Gln104Lys Q104K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF140 Ala118Asp A118D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF140 Asn161Asp N161D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF141 Phe32Leu F32L not reviewed Insufficiently evaluated not reviewed unknown Array 157 3218 0.0487881 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF141 Gln137Glu Q137E not reviewed Insufficiently evaluated not reviewed unknown Array rs6919674 3191 3234 0.986704 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C6ORF141 Ser222Pro S222P not reviewed Insufficiently evaluated not reviewed unknown Array 159 3234 0.0491651 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF142 Arg6His R6H not reviewed Insufficiently evaluated not reviewed unknown Array rs17625497 29 128 0.226562 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF142 Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array rs4712056 82 122 0.672131 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C6ORF142 His279Arg H279R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF142 Ser320Thr S320T not reviewed Insufficiently evaluated not reviewed unknown Array rs6934690 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF142 Pro376Ser P376S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF145 Gln184His Q184H not reviewed Insufficiently evaluated not reviewed unknown Array rs226959 7064 10758 0.656628 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C6ORF146 Val431Ile V431I not reviewed Insufficiently evaluated not reviewed unknown Array rs595413 6026 10758 0.560141 41 0 63 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C6ORF146 Arg369Gln R369Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73349796 360 10758 0.0334635 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF146 Gln350Glu Q350E not reviewed Insufficiently evaluated not reviewed unknown Array rs73349799 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF146 Ala258Thr A258T not reviewed Insufficiently evaluated not reviewed unknown Array rs639905 2683 10758 0.249396 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF15 Gly291Asp G291D not reviewed Insufficiently evaluated not reviewed unknown Array rs2233984 445 9482 0.046931 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF15 Met232Ile M232I not reviewed Insufficiently evaluated not reviewed unknown Array rs2233982 365 8992 0.0405916 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF15 Lys165Glu K165E not reviewed Insufficiently evaluated not reviewed unknown Array rs1265054 5228 9370 0.557951 42 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF15 Pro164Arg P164R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF15 Ala145Pro A145P not reviewed Insufficiently evaluated not reviewed unknown Array rs2233978 714 9982 0.0715287 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF15 Ala83Pro A83P not reviewed Insufficiently evaluated not reviewed unknown Array rs1265053 5750 10758 0.534486 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF15 Val81Ala V81A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233977 1600 10758 0.148727 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF15 Leu40Phe L40F not reviewed Insufficiently evaluated not reviewed unknown Array rs2233974 1718 10588 0.162259 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF15 Arg4Ser R4S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233971 93 10464 0.00888761 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF150 Pro261His P261H not reviewed Insufficiently evaluated not reviewed unknown Array rs610913 5833 10742 0.543009 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C6ORF150 Ala48Glu A48E not reviewed Insufficiently evaluated not reviewed unknown Array 447 10070 0.0443893 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF150 Thr35Asn T35N not reviewed Insufficiently evaluated not reviewed unknown Array rs9352000 9050 10416 0.868856 49 0 87 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF153 Ala78Gly A78G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF165 Arg154Lys R154K not reviewed Insufficiently evaluated not reviewed unknown Array rs13219364 333 10758 0.0309537 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C6ORF165 Arg550Cys R550C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF167 Pro1015Leu P1015L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF167 Val875Ala V875A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF167 Val814Ile V814I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF167 Thr667Ala T667A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF167 Ile620Val I620V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF167 Thr564Met T564M not reviewed Insufficiently evaluated not reviewed unknown Array rs9481410 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF168 Ser158Pro S158P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF170 Thr632Ile T632I not reviewed Insufficiently evaluated not reviewed unknown Array 105 9530 0.0110178 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF170 Ile599Val I599V not reviewed Insufficiently evaluated not reviewed unknown Array rs7745023 4145 9460 0.438161 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C6ORF170 Ser505Cys S505C not reviewed Insufficiently evaluated not reviewed unknown Array 165 9494 0.0173794 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF170 Ile430Leu I430L not reviewed Insufficiently evaluated not reviewed unknown Array 86 9390 0.00915868 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF170 Thr375Lys T375K not reviewed Insufficiently evaluated not reviewed unknown Array rs9387944 9272 9362 0.990387 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF170 Thr375Met T375M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C6ORF170 Leu242Ser L242S not reviewed Insufficiently evaluated not reviewed unknown Array 164 9422 0.0174061 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF170 Pro202Ala P202A not reviewed Insufficiently evaluated not reviewed unknown Array 86 9604 0.0089546 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF170 Ser157Phe S157F not reviewed Insufficiently evaluated not reviewed unknown Array 168 9612 0.0174782 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF170 Arg152Cys R152C not reviewed Insufficiently evaluated not reviewed unknown Array 172 9628 0.0178646 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF170 Arg82Gln R82Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7767455 1536 9724 0.15796 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF170 Leu19Val L19V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF173 Arg28Leu R28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF174 Asp752Tyr D752Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF174 Pro216Thr P216T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF182 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF182 Asp194Glu D194E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - C6ORF182 Trp305Arg W305R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF186 Trp301Cys W301C not reviewed Insufficiently evaluated not reviewed unknown Array 21 7820 0.00268542 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF186 Leu281Phe L281F not reviewed Insufficiently evaluated not reviewed unknown Array rs2334321 475 7820 0.0607417 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF186 His245Arg H245R not reviewed Insufficiently evaluated not reviewed unknown Array rs41288584 166 7820 0.0212276 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF186 Arg9Thr R9T not reviewed Insufficiently evaluated not reviewed unknown Array 69 4230 0.0163121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF191 Phe111Val F111V not reviewed Insufficiently evaluated not reviewed unknown Array rs7776426 4235 10756 0.393734 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF191 Met108Leu M108L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C6ORF191 Glu86Gly E86G not reviewed Insufficiently evaluated not reviewed unknown Array rs9492393 4146 10758 0.385388 29 0 32 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C6ORF191 Phe80Leu F80L not reviewed Insufficiently evaluated not reviewed unknown Array rs4629709 8362 10758 0.777282 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF191 Asn60Ile N60I not reviewed Insufficiently evaluated not reviewed unknown Array rs7760577 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - C6ORF192 Tyr399His Y399H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF192 Val204Ile V204I not reviewed Insufficiently evaluated not reviewed unknown Array rs6926101 2028 10758 0.188511 19 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C6ORF192 Arg11Leu R11L not reviewed Insufficiently evaluated not reviewed unknown Array rs59989552 460 10116 0.0454725 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF195 Val66Leu V66L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF195 Pro43Ser P43S not reviewed Insufficiently evaluated not reviewed unknown Array rs9503233 1685 10092 0.166964 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C6ORF195 Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array 74 10118 0.0073137 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF195 Ile2Phe I2F not reviewed Insufficiently evaluated not reviewed unknown Array rs17135340 1572 9806 0.16031 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF201 Arg20Pro R20P not reviewed Insufficiently evaluated not reviewed unknown Array rs619483 2148 9824 0.218648 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C6ORF201 Asp25Val D25V not reviewed Insufficiently evaluated not reviewed unknown Array rs13200786 666 9814 0.0678622 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C6ORF201 Pro32Thr P32T not reviewed Insufficiently evaluated not reviewed unknown Array 7 9590 0.000729927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF201 Asn117Lys N117K not reviewed Insufficiently evaluated not reviewed unknown Array rs643232 2976 9640 0.308714 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF204 Met640Val M640V not reviewed Insufficiently evaluated not reviewed unknown Array rs7743702 290 9410 0.0308183 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF204 Cys590Phe C590F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF204 Gln532His Q532H not reviewed Insufficiently evaluated not reviewed unknown Array rs9489410 281 9392 0.0299191 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF204 Pro251Thr P251T not reviewed Insufficiently evaluated not reviewed unknown Array rs3734382 7922 10758 0.736382 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C6ORF204 Ser137Gly S137G not reviewed Insufficiently evaluated not reviewed unknown Array rs3734381 5747 10758 0.534207 42 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF204 Thr127Ala T127A not reviewed Insufficiently evaluated not reviewed unknown Array rs73766561 415 10758 0.0385759 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF204 Pro104Leu P104L not reviewed Insufficiently evaluated not reviewed unknown Array rs73526183 123 10758 0.0114334 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF211 Ala245Val A245V not reviewed Insufficiently evaluated not reviewed unknown Array rs58387877 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF211 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs35989216 294 10758 0.0273285 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF211 Ala317Thr A317T not reviewed Insufficiently evaluated not reviewed unknown Array rs35972078 1151 10758 0.10699 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF218 Tyr106Cys Y106C not reviewed Insufficiently evaluated not reviewed unknown Array rs303061 28 128 0.21875 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C6ORF221 Ala201Gly A201G not reviewed Insufficiently evaluated not reviewed unknown Array rs561930 5220 10758 0.48522 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF222 Leu582Val L582V not reviewed Insufficiently evaluated not reviewed unknown Array rs743852 5390 10758 0.501023 31 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF222 Thr486Ile T486I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF222 Pro382Leu P382L not reviewed Insufficiently evaluated not reviewed unknown Array 294 10758 0.0273285 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF222 Glu137Lys E137K not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF222 His132Arg H132R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF223 Thr19Met T19M not reviewed Insufficiently evaluated not reviewed unknown Array 99 10756 0.00920417 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF223 Lys48Glu K48E not reviewed Insufficiently evaluated not reviewed unknown Array rs2295333 1214 10758 0.112846 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF223 Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array 94 10674 0.00880644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF223 Val107Met V107M not reviewed Insufficiently evaluated not reviewed unknown Array 264 10748 0.0245627 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C6ORF225 Phe5Cys F5C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744746 180 10758 0.0167317 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF227 Ser147Asn S147N not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF227 Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array rs210162 1781 10416 0.170987 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF25 Phe144Leu F144L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF25 Arg175Gly R175G not reviewed Insufficiently evaluated not reviewed unknown Array rs11575845 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C6ORF26 Pro99Leu P99L not reviewed Insufficiently evaluated not reviewed unknown Array rs6905572 1152 10758 0.107083 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF27 Thr861Ala T861A not reviewed Insufficiently evaluated not reviewed unknown Array rs3101017 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF27 Arg711Cys R711C not reviewed Insufficiently evaluated not reviewed unknown Array rs28400001 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF27 Gly704Val G704V not reviewed Insufficiently evaluated not reviewed unknown Array rs28400002 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - C6ORF27 Arg488Gln R488Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11966331 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF27 Gly387Ala G387A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF27 Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - C6ORF47 Lys92Asn K92N not reviewed Insufficiently evaluated not reviewed unknown Array rs2242655 828 7520 0.110106 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF47 Gly68Arg G68R not reviewed Insufficiently evaluated not reviewed unknown Array rs3130617 5434 7524 0.722222 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C6ORF52 Ala13Asp A13D not reviewed Insufficiently evaluated not reviewed unknown Array 510 3234 0.157699 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C6ORF57 Gln46Arg Q46R not reviewed Insufficiently evaluated not reviewed unknown Array rs1048886 2349 10758 0.218349 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF64 Ala10Pro A10P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF70 Val188Ala V188A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF70 Arg502His R502H not reviewed Insufficiently evaluated not reviewed unknown Array rs41265401 760 10758 0.0706451 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF70 Ser540Gly S540G not reviewed Insufficiently evaluated not reviewed unknown Array rs4716399 3310 10758 0.307678 35 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF72 Val156Ile V156I not reviewed Insufficiently evaluated not reviewed unknown Array 132 10754 0.0122745 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF72 Pro306Arg P306R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF81 Gln357Arg Q357R not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF97 Phe324Ser F324S not reviewed Insufficiently evaluated not reviewed unknown Array rs953767 9145 9988 0.915599 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C6ORF97 Glu345Lys E345K not reviewed Insufficiently evaluated not reviewed unknown Array rs55868409 56 9852 0.00568412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C6ORF97 Val366Ile V366I not reviewed Insufficiently evaluated not reviewed unknown Array rs41290243 262 9778 0.0267948 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF97 Arg457Gln R457Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF97 Val604Ile V604I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6929137 3643 9646 0.37767 28 0 35 0 0 4 Y - - - - - - - - - - - - Y Y - - - -4 - 2 N - - C6ORF97 His613Tyr H613Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73617535 9 9632 0.000934385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF97 Ala615Asp A615D not reviewed Insufficiently evaluated not reviewed unknown Array 167 9624 0.0173525 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF97 Val683Ile V683I not reviewed Insufficiently evaluated not reviewed unknown Array rs3734804 6134 10120 0.606126 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C7 Thr45Ile T45I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9706 0.000103029 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 3 - 10 - - C7 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array 4 9626 0.000415541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 1 - 3 - - C7 Ser389Thr S389T not reviewed Insufficiently evaluated not reviewed unknown Array rs1063499 5135 9760 0.526127 40 0 57 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 1 N - - C7 Thr587Pro T587P not reviewed Insufficiently evaluated not reviewed unknown Array rs13157656 1752 9638 0.18178 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C7 Thr598Ser T598S not reviewed Insufficiently evaluated not reviewed unknown Array rs60714178 1187 9840 0.12063 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C7ORF11 Ser23Arg S23R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF16 Leu12Val L12V not reviewed Insufficiently evaluated not reviewed unknown Array rs3735422 1414 10758 0.131437 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF23 Ile99Thr I99T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF23 Phe63Leu F63L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF25 Pro51Leu P51L not reviewed Insufficiently evaluated not reviewed unknown Array rs647117 4127 5274 0.782518 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C7ORF26 Arg245Cys R245C not reviewed Insufficiently evaluated not reviewed unknown Array rs35534502 119 10758 0.0110615 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C7ORF27 Arg737Trp R737W not reviewed Insufficiently evaluated not reviewed unknown Array rs60152725 284 10754 0.0264088 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - C7ORF27 Gly663Asp G663D not reviewed Insufficiently evaluated not reviewed unknown Array rs61627394 307 10720 0.0286381 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C7ORF27 Arg644Gln R644Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71531463 10 114 0.0877193 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF27 Gly623Ser G623S not reviewed Insufficiently evaluated not reviewed unknown Array 91 10552 0.00862396 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF27 Leu600Phe L600F not reviewed Insufficiently evaluated not reviewed unknown Array rs56727079 205 10474 0.0195723 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF27 Val546Leu V546L not reviewed Insufficiently evaluated not reviewed unknown Array rs34656552 186 10754 0.0172959 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C7ORF27 Arg285Gln R285Q not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF27 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C7ORF28A Ser136Stop S136X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C7ORF28A Val137Leu V137L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF28A Tyr142Stop Y142X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C7ORF28B Met367Ile M367I not reviewed Insufficiently evaluated not reviewed unknown Array rs62441800 3325 10092 0.329469 6 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C7ORF29 Gln29Stop Q29X not reviewed Insufficiently evaluated not reviewed unknown Array rs73474332 144 10758 0.0133854 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C7ORF29 Pro93Leu P93L not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF29 Glu202Gly E202G not reviewed Insufficiently evaluated not reviewed unknown Array 67 10756 0.00622908 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF31 Leu526Ile L526I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C7ORF31 His300Arg H300R not reviewed Insufficiently evaluated not reviewed unknown Array rs2285738 6416 10758 0.596393 40 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C7ORF31 Pro238Gln P238Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11984293 2415 10758 0.224484 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C7ORF31 Thr187Ser T187S not reviewed Insufficiently evaluated not reviewed unknown Array rs2523072 6462 10758 0.600669 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C7ORF31 Ala158Thr A158T not reviewed Insufficiently evaluated not reviewed unknown Array rs12535348 3935 10758 0.365774 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C7ORF31 Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array rs3213642 274 10758 0.0254694 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C7ORF31 Tyr82Cys Y82C not reviewed Insufficiently evaluated not reviewed unknown Array rs2717858 2979 10758 0.27691 27 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C7ORF31 Glu13Lys E13K not reviewed Insufficiently evaluated not reviewed unknown Array rs11980216 552 10758 0.0513107 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF33 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs62624492 297 10758 0.0276074 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF33 Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array rs73463436 304 10758 0.028258 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF33 Arg155His R155H not reviewed Insufficiently evaluated not reviewed unknown Array rs59748690 320 10758 0.0297453 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF34 Trp21Arg W21R not reviewed Insufficiently evaluated not reviewed unknown Array 2486 10758 0.231084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C7ORF36 Lys68Glu K68E not reviewed Insufficiently evaluated not reviewed unknown Array rs6947660 1518 10758 0.141104 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF38 Phe438Leu F438L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF38 Cys415Tyr C415Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF42 Gly92Arg G92R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF42 His143Arg H143R not reviewed Insufficiently evaluated not reviewed unknown Array rs58175273 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF43 Pro578Ser P578S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF45 Arg88Trp R88W not reviewed Insufficiently evaluated not reviewed unknown Array rs4728190 2973 10758 0.276352 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C7ORF46 Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF46 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array rs34518648 671 10758 0.0623722 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C7ORF46 Cys37Arg C37R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C7ORF46 Cys95Arg C95R not reviewed Insufficiently evaluated not reviewed unknown Array rs35495590 705 10758 0.0655326 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C7ORF46 Ser240Gly S240G not reviewed Insufficiently evaluated not reviewed unknown Array rs35928055 611 10756 0.0568055 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C7ORF46 Pro203Thr P203T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C7ORF46 Pro261Thr P261T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C7ORF46 Pro297Thr P297T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10752 0.00390625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C7ORF50 Gly51Arg G51R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746340 314 10748 0.0292147 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF52 Phe63Ser F63S not reviewed Insufficiently evaluated not reviewed unknown Array rs34985488 1455 10758 0.135248 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C7ORF55 Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF55 Ser8Ala S8A not reviewed Insufficiently evaluated not reviewed unknown Array rs10265 62 128 0.484375 36 0 58 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C7ORF57 Ala74Ser A74S not reviewed Insufficiently evaluated not reviewed unknown Array rs10951942 3569 9756 0.365826 36 0 41 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C7ORF57 Pro124Leu P124L not reviewed Insufficiently evaluated not reviewed unknown Array rs2708912 8976 10264 0.874513 56 0 89 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C7ORF57 Asp149Asn D149N not reviewed Insufficiently evaluated not reviewed unknown Array 79 9898 0.00798141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF57 Met152Thr M152T not reviewed Insufficiently evaluated not reviewed unknown Array rs10233232 8639 9862 0.875989 56 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C7ORF57 Pro201His P201H not reviewed Insufficiently evaluated not reviewed unknown Array rs2708890 8864 10094 0.878145 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C7ORF58 Ala551Gly A551G not reviewed Insufficiently evaluated not reviewed unknown Array rs41281692 4064 10732 0.378681 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C7ORF58 Asp774Asn D774N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF58 Lys949Thr K949T not reviewed Insufficiently evaluated not reviewed unknown Array rs798911 245 10758 0.0227737 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF63 Arg288Cys R288C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - C7ORF63 Arg306Cys R306C not reviewed Insufficiently evaluated not reviewed unknown Array rs17866223 138 9512 0.014508 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - C7ORF63 Val472Met V472M not reviewed Insufficiently evaluated not reviewed unknown Array rs1029365 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF63 Val490Met V490M not reviewed Insufficiently evaluated not reviewed unknown Array rs1029365 7724 9712 0.795305 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF63 Ser836Arg S836R not reviewed Insufficiently evaluated not reviewed unknown Array rs7803620 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF63 Ser854Arg S854R not reviewed Insufficiently evaluated not reviewed unknown Array rs7803620 8051 9408 0.855761 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C7ORF63 Thr867Met T867M not reviewed Insufficiently evaluated not reviewed unknown Array rs1134956 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF63 Thr885Met T885M not reviewed Insufficiently evaluated not reviewed unknown Array rs1134956 4775 9468 0.50433 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C7ORF64 Gly9Arg G9R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF66 His21Arg H21R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF67 Ser200Tyr S200Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C7ORF67 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF67 Pro220Ser P220S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF67 Arg246Trp R246W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF67 Leu260Pro L260P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF67 Ser262Leu S262L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF67 Thr322Met T322M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF67 Arg324Lys R324K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C7ORF67 Cys465Tyr C465Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - C7ORF67 Val513Ile V513I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C7ORF67 Met655Val M655V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF67 Asn729Ser N729S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF69 Lys32Glu K32E not reviewed Insufficiently evaluated not reviewed unknown Array rs9719534 451 550 0.82 47 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF69 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF70 Gly237Ser G237S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241445 257 10758 0.0238892 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF70 Val198Met V198M not reviewed Insufficiently evaluated not reviewed unknown Array rs6952125 6481 10758 0.602435 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF70 Pro162Leu P162L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF70 Val161Leu V161L not reviewed Insufficiently evaluated not reviewed unknown Array rs3750039 6356 10756 0.590926 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF70 Pro146Leu P146L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF70 Arg127Gln R127Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3750040 6374 10758 0.592489 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF70 Gly71Arg G71R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750041 1757 10752 0.163411 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8A Gln93Lys Q93K not reviewed Insufficiently evaluated not reviewed unknown Array rs652785 3402 10758 0.31623 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - C8A Thr407Ile T407I not reviewed Insufficiently evaluated not reviewed unknown Array rs706479 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 1 - 5 - - C8A Ala435Glu A435E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - C8A Asp458Asn D458N not reviewed Insufficiently evaluated not reviewed unknown Array rs17114555 356 10758 0.0330917 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - C8A Arg485Leu R485L not reviewed Insufficiently evaluated not reviewed unknown Array rs1620075 1041 10758 0.0967652 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - C8A Glu561Gln E561Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1342440 1116 10758 0.103737 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 1 - 5 - - C8A Pro575Leu P575L not reviewed Insufficiently evaluated not reviewed unknown Array rs17300936 1034 10758 0.0961145 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8B Pro261Leu P261L not reviewed Insufficiently evaluated not reviewed unknown Array rs12085435 637 10758 0.0592117 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8B Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array rs1013579 10494 10758 0.97546 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8B Glu108Lys E108K not reviewed Insufficiently evaluated not reviewed unknown Array rs12067507 640 10758 0.0594906 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8G Asp118Gly D118G not reviewed Insufficiently evaluated not reviewed unknown Array rs7850844 10231 10746 0.952075 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C8G Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - C8ORF30A Gln264Glu Q264E not reviewed Insufficiently evaluated not reviewed unknown Array 80 88 0.909091 29 0 58 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C8ORF31 Leu39Pro L39P not reviewed Insufficiently evaluated not reviewed unknown Array rs11136300 7175 10758 0.666946 36 0 57 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8ORF31 Pro70Thr P70T not reviewed Insufficiently evaluated not reviewed unknown Array rs73717943 263 10758 0.0244469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF33 Cys44Ser C44S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF34 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF34 Pro238Arg P238R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C8ORF34 Ala401Thr A401T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF34 Cys413Phe C413F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF37 Pro19Ala P19A not reviewed Insufficiently evaluated not reviewed unknown Array rs36096184 344 10758 0.0319762 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C8ORF4 Val10Ile V10I not reviewed Insufficiently evaluated not reviewed unknown Array rs6474226 10637 10758 0.988753 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C8ORF40 Ile14Val I14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C8ORF41 Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array rs2304748 6074 10758 0.564603 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8ORF44 Phe148Ser F148S not reviewed Insufficiently evaluated not reviewed unknown Array rs1057463 2444 10758 0.22718 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C8ORF45 Tyr40Cys Y40C not reviewed Insufficiently evaluated not reviewed unknown Array 303 10756 0.0281703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF45 Met137Lys M137K not reviewed Insufficiently evaluated not reviewed unknown Array 491 10758 0.0456405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - C8ORF45 Pro509Leu P509L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8ORF45 Pro524Ser P524S not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C8ORF45 Ala531Gly A531G not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF47 Arg59His R59H not reviewed Insufficiently evaluated not reviewed unknown Array rs7833473 325 10758 0.0302101 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF47 His287Arg H287R not reviewed Insufficiently evaluated not reviewed unknown Array rs11994440 315 10758 0.0292805 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF48 Ser28Phe S28F not reviewed Insufficiently evaluated not reviewed unknown Array rs13273355 2568 3234 0.794063 53 0 93 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C8ORF48 Leu285Met L285M not reviewed Insufficiently evaluated not reviewed unknown Array rs11203497 3195 3234 0.987941 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C8ORF55 Val87Met V87M not reviewed Insufficiently evaluated not reviewed unknown Array 5 9274 0.000539141 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF55 Gly200Arg G200R not reviewed Insufficiently evaluated not reviewed unknown Array rs11540544 106 10720 0.00988806 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF59 Asp89Asn D89N not reviewed Insufficiently evaluated not reviewed unknown Array 384 9426 0.0407384 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8ORF73 Ala619Thr A619T not reviewed Insufficiently evaluated not reviewed unknown Array rs13255489 7504 9778 0.767437 44 0 74 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C8ORF73 Arg608Trp R608W not reviewed Insufficiently evaluated not reviewed unknown Array rs73715685 151 10040 0.0150398 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8ORF73 Thr134Ile T134I not reviewed Insufficiently evaluated not reviewed unknown Array rs10866911 4126 10114 0.407949 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C8ORF73 Val132Ala V132A not reviewed Insufficiently evaluated not reviewed unknown Array rs4874153 8004 10136 0.789661 33 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C8ORF73 His97Gln H97Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4873803 3892 9664 0.402732 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C8ORF74 Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array rs11250058 9747 9748 0.999897 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF74 Ile222Val I222V not reviewed Insufficiently evaluated not reviewed unknown Array rs57041981 1915 10126 0.189117 22 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C8ORF79 Arg122Ile R122I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8ORF79 His150Arg H150R not reviewed Insufficiently evaluated not reviewed unknown Array rs528255 9779 9804 0.99745 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C8ORF79 His24Arg H24R not reviewed Insufficiently evaluated not reviewed unknown Array rs528255 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF79 Cys207Gly C207G not reviewed Insufficiently evaluated not reviewed unknown Array rs3739310 6654 9806 0.678564 41 0 60 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8ORF79 Cys81Gly C81G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8ORF79 Gly178Glu G178E not reviewed Insufficiently evaluated not reviewed unknown Array rs502882 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF79 Gly304Glu G304E not reviewed Insufficiently evaluated not reviewed unknown Array rs502882 7268 9622 0.755352 49 0 73 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8ORF79 His211Leu H211L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF79 His337Leu H337L not reviewed Insufficiently evaluated not reviewed unknown Array rs34995506 1522 9614 0.158311 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8ORF79 Arg325Gly R325G not reviewed Insufficiently evaluated not reviewed unknown Array rs608052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF79 Arg451Gly R451G not reviewed Insufficiently evaluated not reviewed unknown Array rs608052 7163 9624 0.744285 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8ORF80 Pro792Thr P792T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF80 Ser474Asn S474N not reviewed Insufficiently evaluated not reviewed unknown Array rs13279787 3070 9822 0.312564 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF80 Gln328Arg Q328R not reviewed Insufficiently evaluated not reviewed unknown Array rs7817227 9693 10062 0.963327 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF80 Ser180Gly S180G not reviewed Insufficiently evaluated not reviewed unknown Array rs4732620 5808 10288 0.564541 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C8ORF80 Arg23Pro R23P not reviewed Insufficiently evaluated not reviewed unknown Array rs6998705 9119 9438 0.9662 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C8ORF84 Trp186Arg W186R not reviewed Insufficiently evaluated not reviewed unknown Array rs2291219 7245 10070 0.719464 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8ORF84 Phe58Leu F58L not reviewed Insufficiently evaluated not reviewed unknown Array 3628 9942 0.364917 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF85 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs16889283 1408 6172 0.228127 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8ORF86 Ile217Met I217M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8ORF86 Ile130Phe I130F not reviewed Insufficiently evaluated not reviewed unknown Array rs58307701 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C8ORF86 Arg81His R81H not reviewed Insufficiently evaluated not reviewed unknown Array rs1378332 1093 10758 0.101599 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C8ORF86 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF86 Ser24Arg S24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF86 Ile15Phe I15F not reviewed Insufficiently evaluated not reviewed unknown Array rs73599940 258 10758 0.0239822 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9 Ser427Thr S427T not reviewed Insufficiently evaluated not reviewed unknown Array rs34421659 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.056 - - -2 - 1 - 3 - - C9 Thr279Ser T279S not reviewed Insufficiently evaluated not reviewed unknown Array rs34625111 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - C9 Pro167Ser P167S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 1 0 2 Y - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 2 - - Saksens et al. find this variant to be among a few rare variants associated with age-related macular degeneration, however its effect appears to be related to earlier age at symptom onset and was not shown to segregate completely with disease within families. C9 Asp127Tyr D127Y not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 7 - - C9 Met45Leu M45L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.526 - - -3 - 2 - 10 - - C9 Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array rs700233 3861 10758 0.358896 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C9ORF100 His306Arg H306R not reviewed Insufficiently evaluated not reviewed unknown Array rs2297879 2688 10758 0.249861 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF100 Met257Ile M257I not reviewed Insufficiently evaluated not reviewed unknown Array rs57636255 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF102 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs690528 2506 10452 0.239763 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF102 Pro9Arg P9R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10556 9.4732e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF102 Met190Leu M190L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF102 Lys394Met K394M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF102 Pro429Thr P429T not reviewed Insufficiently evaluated not reviewed unknown Array rs59765732 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF102 Val592Ala V592A not reviewed Insufficiently evaluated not reviewed unknown Array rs2274654 1748 10758 0.162484 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C9ORF103 Gly2Ala G2A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - C9ORF103 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array rs73474402 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF103 Lys139Thr K139T not reviewed Insufficiently evaluated not reviewed unknown Array rs1052690 1444 10740 0.134451 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF106 Gly177Arg G177R not reviewed Insufficiently evaluated not reviewed unknown Array rs913770 1488 10018 0.148533 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF11 Asn101Asp N101D not reviewed Insufficiently evaluated not reviewed unknown Array rs12337286 830 10748 0.0772237 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C9ORF114 Ile369Thr I369T not reviewed Insufficiently evaluated not reviewed unknown Array rs2280843 6638 10708 0.61991 48 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF114 Arg226Trp R226W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF114 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array rs73622710 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF114 Thr130Arg T130R not reviewed Insufficiently evaluated not reviewed unknown Array rs6478854 4547 10758 0.422662 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF116 Ser117Phe S117F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF117 Gln75His Q75H not reviewed Insufficiently evaluated not reviewed unknown Array rs61738576 152 10432 0.0145706 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF117 Tyr483Ser Y483S not reviewed Insufficiently evaluated not reviewed unknown Array rs497632 5754 9920 0.58004 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C9ORF119 Gln2Pro Q2P not reviewed Insufficiently evaluated not reviewed unknown Array rs56321718 546 10160 0.0537402 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF119 Arg20Cys R20C not reviewed Insufficiently evaluated not reviewed unknown Array rs61136271 594 9756 0.0608856 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C9ORF119 Asn73Lys N73K not reviewed Insufficiently evaluated not reviewed unknown Array rs73672486 525 9660 0.0543478 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF123 Pro28Thr P28T not reviewed Insufficiently evaluated not reviewed unknown Array rs1127430 3852 10754 0.358192 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF125 Phe28Val F28V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF126 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF126 Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF128 Lys41Glu K41E not reviewed Insufficiently evaluated not reviewed unknown Array rs13294245 2006 9712 0.206549 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF128 His34Arg H34R not reviewed Insufficiently evaluated not reviewed unknown Array rs13294256 1847 9750 0.189436 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF129 Arg191His R191H not reviewed Insufficiently evaluated not reviewed unknown Array rs36081907 1253 10080 0.124306 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF129 Gly118Arg G118R not reviewed Insufficiently evaluated not reviewed unknown Array 1933 10672 0.181128 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF129 Gly92Ser G92S not reviewed Insufficiently evaluated not reviewed unknown Array 7761 10742 0.722491 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C9ORF129 Pro6Gln P6Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 194 0.0309278 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF131 Glu6Gly E6G not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF131 Asn113Thr N113T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF131 Asn138Thr N138T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF131 Asn151Thr N151T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF131 Asn186Thr N186T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF131 Trp149Leu W149L not reviewed Insufficiently evaluated not reviewed unknown Array rs615474 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF131 Trp174Leu W174L not reviewed Insufficiently evaluated not reviewed unknown Array rs615474 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF131 Trp187Leu W187L not reviewed Insufficiently evaluated not reviewed unknown Array rs615474 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF131 Trp222Leu W222L not reviewed Insufficiently evaluated not reviewed unknown Array rs615474 7616 10758 0.707938 51 0 75 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C9ORF131 Pro266Leu P266L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF131 Pro291Leu P291L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF131 Pro304Leu P304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF131 Pro339Leu P339L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742473 362 10758 0.0336494 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF131 Leu364Val L364V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C9ORF131 Leu389Val L389V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C9ORF131 Leu402Val L402V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C9ORF131 Leu437Val L437V not reviewed Insufficiently evaluated not reviewed unknown Array rs35523761 362 10758 0.0336494 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C9ORF131 Ser550Thr S550T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF131 Ser575Thr S575T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF131 Ser588Thr S588T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF131 Ser623Thr S623T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298312 508 10758 0.0472207 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF135 Arg53Cys R53C not reviewed Insufficiently evaluated not reviewed unknown Array rs55859531 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C9ORF139 Arg37Trp R37W not reviewed Insufficiently evaluated not reviewed unknown Array 139 10744 0.0129375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF139 Lys168Glu K168E not reviewed Insufficiently evaluated not reviewed unknown Array rs12337910 1242 10738 0.115664 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF140 Arg156Gly R156G not reviewed Insufficiently evaluated not reviewed unknown Array 276 1150 0.24 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF140 Ala155Thr A155T not reviewed Insufficiently evaluated not reviewed unknown Array 283 1124 0.251779 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF144B Ala1165Ser A1165S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF144B His1060Tyr H1060Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF144B Ser999Ile S999I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF144B Glu814Val E814V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF144B Leu600Ser L600S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF144B Met499Val M499V not reviewed Insufficiently evaluated not reviewed unknown Array rs62547039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF144B Phe352Ser F352S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF144B Pro345Ser P345S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF144B Thr189Met T189M not reviewed Insufficiently evaluated not reviewed unknown Array rs1854574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF150 Ser59Gly S59G not reviewed Insufficiently evaluated not reviewed unknown Array rs3750501 6079 9090 0.668757 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C9ORF150 Ile208Thr I208T not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF153 Ala70Thr A70T not reviewed Insufficiently evaluated not reviewed unknown Array rs73650939 800 10758 0.0743633 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF156 Val324Met V324M not reviewed Insufficiently evaluated not reviewed unknown Array rs2282192 4578 10758 0.425544 40 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF156 Arg57Gln R57Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF156 Ser7Pro S7P not reviewed Insufficiently evaluated not reviewed unknown Array rs3183927 3210 10718 0.299496 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF163 Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array rs34376913 1522 9602 0.158509 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C9ORF163 Leu165Val L165V not reviewed Insufficiently evaluated not reviewed unknown Array rs73566994 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF167 Thr105Ala T105A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF169 Ala108Val A108V not reviewed Insufficiently evaluated not reviewed unknown Array rs6606566 2613 3180 0.821698 7 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C9ORF171 Gly137Arg G137R not reviewed Insufficiently evaluated not reviewed unknown Array rs7047726 934 10758 0.0868191 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF171 Arg184His R184H not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF171 Lys244Gln K244Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34650498 591 10758 0.0549359 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF21 Arg83Lys R83K not reviewed Insufficiently evaluated not reviewed unknown Array rs9886834 960 10718 0.089569 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C9ORF24 Ser117Pro S117P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF24 Ser252Pro S252P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF24 Cys61Tyr C61Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF3 Val179Ile V179I not reviewed Insufficiently evaluated not reviewed unknown Array rs16911679 497 10758 0.0461982 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - C9ORF3 Arg255Gln R255Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16911681 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF4 Arg51Pro R51P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF4 Arg51Gly R51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF43 Ile107Val I107V not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF43 Asp252Gly D252G not reviewed Insufficiently evaluated not reviewed unknown Array rs41313331 878 10758 0.0816137 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF43 Pro271Ala P271A not reviewed Insufficiently evaluated not reviewed unknown Array 467 10758 0.0434096 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF43 Asn378Thr N378T not reviewed Insufficiently evaluated not reviewed unknown Array 467 10758 0.0434096 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF46 Pro86Arg P86R not reviewed Insufficiently evaluated not reviewed unknown Array rs72703655 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF5 Ala314Thr A314T not reviewed Insufficiently evaluated not reviewed unknown Array rs2271877 19 9914 0.00191648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF5 His113Arg H113R not reviewed Insufficiently evaluated not reviewed unknown Array 1363 9172 0.148604 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - C9ORF5 Asp9Glu D9E not reviewed Insufficiently evaluated not reviewed unknown Array rs12001627 1091 3950 0.276203 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF50 Arg381Gln R381Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302779 1532 10758 0.142406 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF50 Arg312Gln R312Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3213763 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - C9ORF50 Arg248Lys R248K not reviewed Insufficiently evaluated not reviewed unknown Array rs918165 5182 10758 0.481688 46 0 64 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C9ORF57 Cys108Trp C108W not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF57 Glu103Lys E103K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF57 Ala102Thr A102T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF6 Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array 221 10756 0.0205467 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF6 Gln40Arg Q40R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF64 Lys201Arg K201R not reviewed Insufficiently evaluated not reviewed unknown Array rs73469357 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF66 Arg231Gly R231G not reviewed Insufficiently evaluated not reviewed unknown Array rs540473 3186 8088 0.393917 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF66 Val198Ala V198A not reviewed Insufficiently evaluated not reviewed unknown Array 659 9116 0.0722905 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C9ORF66 Ser184Ala S184A not reviewed Insufficiently evaluated not reviewed unknown Array 38 9800 0.00387755 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF66 Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2236547 2192 9766 0.224452 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF66 Asn114Asp N114D not reviewed Insufficiently evaluated not reviewed unknown Array rs481905 3406 7792 0.437115 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C9ORF66 Arg88Gly R88G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF66 Ala57Pro A57P not reviewed Insufficiently evaluated not reviewed unknown Array 18 10404 0.0017301 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF66 Leu43Arg L43R not reviewed Insufficiently evaluated not reviewed unknown Array rs636922 1931 10742 0.179762 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF66 Val34Ala V34A not reviewed Insufficiently evaluated not reviewed unknown Array rs73370597 414 10746 0.038526 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF68 His355Gln H355Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF68 His355Leu H355L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF68 His307Asp H307D not reviewed Insufficiently evaluated not reviewed unknown Array rs41302077 467 9932 0.0470197 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF68 Arg243Gly R243G not reviewed Insufficiently evaluated not reviewed unknown Array rs10974657 518 9622 0.053835 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF68 His194Arg H194R not reviewed Insufficiently evaluated not reviewed unknown Array rs45463394 541 9566 0.0565545 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF69 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10402 0.000672947 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF72 Asn207Ser N207S not reviewed Insufficiently evaluated not reviewed unknown Array rs17769294 1022 10756 0.0950167 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF75 Pro390Leu P390L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF75 Pro360Ser P360S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF75 Leu297Pro L297P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF78 Val222Leu V222L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF79 Pro52Leu P52L not reviewed Insufficiently evaluated not reviewed unknown Array rs55722781 273 10758 0.0253765 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF79 Thr208Ser T208S not reviewed Insufficiently evaluated not reviewed unknown Array rs28510722 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - C9ORF79 Pro234Ser P234S not reviewed Insufficiently evaluated not reviewed unknown Array rs56976253 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF79 Leu263Val L263V not reviewed Insufficiently evaluated not reviewed unknown Array 612 10758 0.0568879 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF79 Ala264Gly A264G not reviewed Insufficiently evaluated not reviewed unknown Array rs59256416 1407 10758 0.130786 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF79 Thr335Pro T335P not reviewed Insufficiently evaluated not reviewed unknown Array rs7850542 7100 10758 0.659974 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF79 Thr671Met T671M not reviewed Insufficiently evaluated not reviewed unknown Array rs36079890 84 10756 0.00780959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C9ORF79 Asp682Glu D682E not reviewed Insufficiently evaluated not reviewed unknown Array rs4076795 7081 10756 0.65833 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF79 Lys686Asn K686N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF79 Asp704Glu D704E not reviewed Insufficiently evaluated not reviewed unknown Array rs4076794 2630 10756 0.244515 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF79 Arg786His R786H not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF79 Glu886Gln E886Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF79 Val1019Glu V1019E not reviewed Insufficiently evaluated not reviewed unknown Array rs10868670 7091 10758 0.659137 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C9ORF79 Asp1202Gly D1202G not reviewed Insufficiently evaluated not reviewed unknown Array rs11789780 5143 10688 0.481194 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF79 Glu1214Lys E1214K not reviewed Insufficiently evaluated not reviewed unknown Array rs33991492 125 10720 0.0116604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF79 Pro1304Arg P1304R not reviewed Insufficiently evaluated not reviewed unknown Array 483 10758 0.0448968 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF79 Arg1350His R1350H not reviewed Insufficiently evaluated not reviewed unknown Array rs11142017 5338 10758 0.496189 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF79 Pro1409Arg P1409R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF82 Asn282Ser N282S not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Asn1341Lys N1341K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF84 Asn1380Lys N1380K not reviewed Insufficiently evaluated not reviewed unknown Array rs1322254 620 10756 0.0576422 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF84 Glu1135Gly E1135G not reviewed Insufficiently evaluated not reviewed unknown Array rs7869279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF84 Glu1174Gly E1174G not reviewed Insufficiently evaluated not reviewed unknown Array rs7869279 4665 10758 0.433631 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF84 Ile1123Thr I1123T not reviewed Insufficiently evaluated not reviewed unknown Array rs1475110 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF84 Ile1162Thr I1162T not reviewed Insufficiently evaluated not reviewed unknown Array rs1475110 10731 10758 0.99749 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF84 Leu929Pro L929P not reviewed Insufficiently evaluated not reviewed unknown Array rs6477845 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF84 Leu968Pro L968P not reviewed Insufficiently evaluated not reviewed unknown Array rs6477845 8523 10754 0.792542 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C9ORF84 Tyr893Cys Y893C not reviewed Insufficiently evaluated not reviewed unknown Array rs1407390 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF84 Tyr932Cys Y932C not reviewed Insufficiently evaluated not reviewed unknown Array rs1407390 8700 10742 0.809905 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF84 Asn770Lys N770K not reviewed Insufficiently evaluated not reviewed unknown Array rs7036568 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF84 Asn809Lys N809K not reviewed Insufficiently evaluated not reviewed unknown Array rs7036568 3000 10756 0.278914 31 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF84 Arg749Lys R749K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF84 Arg788Lys R788K not reviewed Insufficiently evaluated not reviewed unknown Array rs7868266 668 10750 0.0621395 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C9ORF84 Ile719Leu I719L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF84 Ile758Leu I758L not reviewed Insufficiently evaluated not reviewed unknown Array rs28551718 669 10650 0.0628169 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF84 Met695Leu M695L not reviewed Insufficiently evaluated not reviewed unknown Array rs11791445 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF84 Met734Leu M734L not reviewed Insufficiently evaluated not reviewed unknown Array rs11791445 2277 10756 0.211696 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C9ORF84 Ile610Thr I610T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF84 Ile649Thr I649T not reviewed Insufficiently evaluated not reviewed unknown Array rs1322257 686 10758 0.0637665 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF84 His377Arg H377R not reviewed Insufficiently evaluated not reviewed unknown Array rs7470491 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF84 His416Arg H416R not reviewed Insufficiently evaluated not reviewed unknown Array rs7470491 8436 10754 0.784452 52 0 92 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF84 Thr187Ser T187S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF84 Thr226Ser T226S not reviewed Insufficiently evaluated not reviewed unknown Array rs10981047 680 10756 0.0632205 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF86 Glu382Gln E382Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2811741 7960 9586 0.830378 40 0 69 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF86 Gly383Ala G383A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF89 Gly182Arg G182R not reviewed Insufficiently evaluated not reviewed unknown Array rs56145587 837 10688 0.0783121 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF9 Val104Ile V104I not reviewed Insufficiently evaluated not reviewed unknown Array rs2231406 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF91 Arg342Ser R342S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF93 Ser121Thr S121T not reviewed Insufficiently evaluated not reviewed unknown Array rs4741510 3168 10752 0.294643 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C9ORF93 Cys821Tyr C821Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34816651 415 10758 0.0385759 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF93 Lys1069Arg K1069R not reviewed Insufficiently evaluated not reviewed unknown Array rs1539172 5607 10756 0.52129 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C9ORF93 His1230Tyr H1230Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF96 Ile119Thr I119T not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF96 Lys473Glu K473E not reviewed Insufficiently evaluated not reviewed unknown Array rs3124747 6129 10710 0.572269 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF96 Gly535Cys G535C not reviewed Insufficiently evaluated not reviewed unknown Array rs33919837 658 10758 0.0611638 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C9ORF96 Arg568Gln R568Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17150554 665 10758 0.0618145 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF96 Leu679Arg L679R not reviewed Insufficiently evaluated not reviewed unknown Array rs41302673 748 10756 0.0695426 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF97 Ala109Asp A109D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF97 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF98 Asp130Gly D130G not reviewed Insufficiently evaluated not reviewed unknown Array 365 10758 0.0339282 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - C9ORF98 Ile5Thr I5T not reviewed Insufficiently evaluated not reviewed unknown Array 1451 10758 0.134876 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CA1 Met242Val M242V not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - 0 - 1 N - - CA1 Ala143Val A143V not reviewed Insufficiently evaluated not reviewed unknown Array rs7821248 331 10758 0.0307678 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.084 - - 2 - 0 N - - CA10 Pro194Arg P194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - 5 Y 0 N - - CA14 Gln332Lys Q332K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CA3 Val31Ile V31I not reviewed Insufficiently evaluated not reviewed unknown Array rs20571 5506 10758 0.511805 35 0 48 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CA3 Ala162Glu A162E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - CA4 Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CA5A Asn46Lys N46K not reviewed Insufficiently evaluated not reviewed unknown Array rs74041853 385 10758 0.0357873 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CA6 Gln37Leu Q37L not reviewed Insufficiently evaluated not reviewed unknown Array rs34265054 566 10758 0.052612 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CA6 Thr55Met T55M not reviewed Insufficiently evaluated not reviewed unknown Array rs2274327 3435 10758 0.319297 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.599 - - 2 - 0 N - - CA6 Arg58Trp R58W not reviewed Insufficiently evaluated not reviewed unknown Array rs58800854 524 10758 0.0487079 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CA6 Met68Leu M68L not reviewed Insufficiently evaluated not reviewed unknown Array rs2274328 5694 10758 0.529281 44 0 59 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CA6 Gly70Ala G70A not reviewed Insufficiently evaluated not reviewed unknown Array rs2274329 764 10758 0.0710169 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - CA6 Ser90Gly S90G not reviewed Insufficiently evaluated not reviewed unknown Array rs2274333 2683 10758 0.249396 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.936 - - 2 - 1 N - - CA8 Val157Gly V157G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.089 - - 8 Y 0 N - - CA9 Val33Met V33M not reviewed Insufficiently evaluated not reviewed unknown Array rs2071676 2910 10758 0.270496 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CA9 Arg131Trp R131W not reviewed Insufficiently evaluated not reviewed unknown Array 346 10746 0.032198 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CAB39L Asp238Asn D238N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.702 - - -1 - 1 N - - CABC1 His80Tyr H80Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CABC1 His85Gln H85Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CABIN1 Asp225Asn D225N not reviewed Insufficiently evaluated not reviewed unknown Array rs17004823 497 10758 0.0461982 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - CABIN1 Ser325Arg S325R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CABIN1 Arg660Ser R660S not reviewed Insufficiently evaluated not reviewed unknown Array rs9624395 532 10758 0.0494516 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - CABIN1 Arg853Gln R853Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17854874 556 10758 0.0516825 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CABIN1 Gln921Glu Q921E not reviewed Insufficiently evaluated not reviewed unknown Array rs12166151 501 10758 0.04657 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - CABIN1 Ser1620Arg S1620R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 3 - 1 N - - CABLES1 Leu240Phe L240F not reviewed Insufficiently evaluated not reviewed unknown Array 27 9890 0.00273003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.834 - - 0 - 1 N - - CABLES2 Thr428Lys T428K not reviewed Insufficiently evaluated not reviewed unknown Array rs6089219 10176 10758 0.945901 43 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CABLES2 Ser277Pro S277P not reviewed Insufficiently evaluated not reviewed unknown Array rs41284972 700 10758 0.0650679 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 0 N - - CABLES2 Pro89Leu P89L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 7 Y 0 N - - CABP2 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CABP2 Arg94Gln R94Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2276118 4473 10758 0.415784 28 0 42 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - CABP2 Ala42Thr A42T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CABP5 Val128Ala V128A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745746 3374 10758 0.313627 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CABP5 Thr65Arg T65R not reviewed Insufficiently evaluated not reviewed unknown Array rs34862923 938 10758 0.0871909 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 1 N - - CABYR Thr56Met T56M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CABYR Thr74Met T74M not reviewed Insufficiently evaluated not reviewed unknown Array rs3786417 22 10758 0.00204499 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 3 - 3 - - CABYR Ser472Ala S472A not reviewed Insufficiently evaluated not reviewed unknown Array rs1049683 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CABYR Ser490Ala S490A not reviewed Insufficiently evaluated not reviewed unknown Array rs1049683 9045 10716 0.844065 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CACHD1 Met363Thr M363T not reviewed Insufficiently evaluated not reviewed unknown Array rs6588100 10723 10758 0.996747 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CACHD1 Pro1183Arg P1183R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CACNA1A Ala1448Val A1448V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CACNA1A Ala1449Val A1449V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.958 Y Y 2 - 4 N - - CACNA1B Gly17Ser G17S not reviewed Insufficiently evaluated not reviewed unknown Array 21 298 0.0704698 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 0 N - - CACNA1B Gly165Val G165V not reviewed Insufficiently evaluated not reviewed unknown Array rs71238527 953 10452 0.0911787 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 8 Y 0 N - - CACNA1B Asn167Lys N167K not reviewed Insufficiently evaluated not reviewed unknown Array rs4422842 63 126 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 1 N - - CACNA1B Ala862Ser A862S not reviewed Insufficiently evaluated not reviewed unknown Array rs7873074 1229 5262 0.233561 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 0 N - - CACNA1B Thr996Ala T996A not reviewed Insufficiently evaluated not reviewed unknown Array rs11137342 1109 6530 0.169832 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CACNA1C Pro1820Leu P1820L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 4 - - CACNA1C Pro1868Leu P1868L not reviewed Insufficiently evaluated not reviewed unknown Array 1 1 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - CACNA1C Met1821Val M1821V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CACNA1C Met1869Val M1869V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - CACNA1C Lys1845Arg K1845R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - CACNA1C Lys1893Arg K1893R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - 0.08 Y Y -3 - 2 N - - CACNA1C Arg1895Stop R1895X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1903Stop R1903X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is ). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1906Stop R1906X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is ). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1912Stop R1912X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1914Stop R1914X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1923Stop R1923X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1925Stop R1925X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1926Stop R1926X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 3 Y - - ! Y - - 4 - 3 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~10% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Timothy Syndrome and Brugada Syndrome in a dominant manner, but all variants in OMIM occur on amino acids preceding this one (closest is 490). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and dominant, but it has an one unconfirmed report in a healthy genome sequence. CACNA1C Arg1934Stop R1934X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CACNA1C Arg1941Stop R1941X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CACNA1C Arg1947Stop R1947X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CACNA1C Arg1954Stop R1954X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CACNA1C Arg1989Stop R1989X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CACNA1D Tyr1810Cys Y1810C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - CACNA1D Tyr1830Cys Y1830C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNA1D Tyr1843Stop Y1843X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1D Tyr1867Stop Y1867X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1D Tyr1887Stop Y1887X not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1D Asp2073Asn D2073N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - CACNA1D Asp2097Asn D2097N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - -1 - 2 - 2 - - CACNA1D Asp2117Asn D2117N not reviewed Insufficiently evaluated not reviewed unknown Array rs41276455 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - CACNA1E Glu430Stop E430X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1E Asp859Glu D859E not reviewed Insufficiently evaluated not reviewed unknown Array rs35737760 1237 9776 0.126534 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - CACNA1E Gly998Ser G998S not reviewed Insufficiently evaluated not reviewed unknown Array 340 10404 0.0326797 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CACNA1E Thr1022Met T1022M not reviewed Insufficiently evaluated not reviewed unknown Array rs74127835 64 10666 0.00600037 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.085 - - 2 - 0 N - - CACNA1E Ala1955Thr A1955T not reviewed Insufficiently evaluated not reviewed unknown Array rs704326 3455 9744 0.354577 22 0 34 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - CACNA1F Arg1930His R1930H not reviewed Insufficiently evaluated not reviewed unknown Array rs33910054 525 8761 0.0599247 6 0 9 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 4 - - CACNA1G Glu695Gly E695G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CACNA1G Gln1524His Q1524H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CACNA1G Gln1547His Q1547H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - CACNA1H Gln163His Q163H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10114 0.00168084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - CACNA1H Met313Val M313V not reviewed Insufficiently evaluated not reviewed unknown Array rs36117280 1173 10092 0.116231 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CACNA1H Ala332Thr A332T not reviewed Insufficiently evaluated not reviewed unknown Array 127 10354 0.0122658 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1H Pro640Leu P640L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734410 2157 9664 0.2232 30 0 41 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - CACNA1H Val664Ala V664A not reviewed Insufficiently evaluated not reviewed unknown Array rs4984636 1656 9190 0.180196 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - CACNA1H Arg788Cys R788C not reviewed Insufficiently evaluated not reviewed unknown Array rs3751664 755 10508 0.07185 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 1 - 9 - - CACNA1H Ala876Thr A876T pathogenic Insufficiently evaluated pathogenic dominant Array 13 10234 0.00127027 0 0 0 1 1 2 Y 2 Y 0 Y 1 Y 3 - 3 - - Y - - 0.041 - - 1 - 2 N - - This variant was found segregating with Idiopathic epilepsy in four affected individuals in one family. In vitro studies of the variant were consistent with gain of function mutations. CACNA1H Arg1865Gln R1865Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CACNA1H Arg1871Gln R1871Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58124832 430 10360 0.0415058 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 4 - - CACNA1H Glu1968Gly E1968G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNA1H Glu1974Gly E1974G not reviewed Insufficiently evaluated not reviewed unknown Array rs3751886 323 8394 0.0384799 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.037 - - 6 Y 0 N - - CACNA1H Arg1999Cys R1999C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CACNA1H Arg2005Cys R2005C not reviewed Insufficiently evaluated not reviewed unknown Array rs72552056 348 8562 0.0406447 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CACNA1H Arg2054His R2054H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - CACNA1H Arg2060His R2060H not reviewed Insufficiently evaluated not reviewed unknown Array rs1054644 878 9876 0.0889024 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 4 - - CACNA1H Arg2071His R2071H not reviewed Insufficiently evaluated not reviewed unknown Array rs1054645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1H Arg2077His R2077H not reviewed Insufficiently evaluated not reviewed unknown Array rs1054645 6480 9958 0.650733 43 0 72 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CACNA1I Ile1005Val I1005V not reviewed Insufficiently evaluated not reviewed unknown Array rs136853 5324 8426 0.631854 37 0 64 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CACNA1I Ile1040Val I1040V not reviewed Insufficiently evaluated not reviewed unknown Array rs136853 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CACNA1I Thr1478Met T1478M not reviewed Insufficiently evaluated not reviewed unknown Array rs8141262 850 10468 0.0811998 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CACNA1I Thr1513Met T1513M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 2 - 0 N - - CACNA1I Arg1510Cys R1510C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10372 0.000192826 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CACNA1I Arg1545Cys R1545C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CACNA1I Gly1747Arg G1747R not reviewed Insufficiently evaluated not reviewed unknown Array rs2294369 760 4670 0.162741 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 4 - - CACNA1I Gly1782Arg G1782R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - CACNA1S Glu1840Lys E1840K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CACNA1S Leu1800Ser L1800S not reviewed Insufficiently evaluated not reviewed unknown Array rs12139527 2929 10758 0.272263 23 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 1 - - CACNA1S Arg1658His R1658H not reviewed Insufficiently evaluated not reviewed unknown Array rs13374149 1288 10758 0.119725 15 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - CACNA1S Arg1539Cys R1539C not reviewed Insufficiently evaluated not reviewed unknown Array rs3850625 957 10758 0.0889571 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - CACNA1S Val1449Gly V1449G not reviewed Insufficiently evaluated not reviewed unknown Array 3204 10758 0.297825 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - CACNA1S Val947Ile V947I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CACNA1S Met827Thr M827T not reviewed Insufficiently evaluated not reviewed unknown Array 126 10756 0.0117144 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CACNA1S Leu458His L458H benign Low clinical importance, Likely benign unknown Array rs12742169 2935 10758 0.27282 22 0 27 0 0 1 Y - - 5 Y - - - - - - Y - - - - Y Y 6 Y 3 Y 0 1 Common polymorphism CACNA1S Asn123Asp N123D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CACNA1S Ala69Gly A69G not reviewed Insufficiently evaluated not reviewed unknown Array rs12406479 415 10758 0.0385759 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - CACNA2D2 Val1117Ile V1117I not reviewed Insufficiently evaluated not reviewed unknown Array 377 10594 0.0355862 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CACNA2D2 Val1119Ile V1119I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CACNA2D2 Arg75Gln R75Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41291734 233 10746 0.0216825 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - CACNA2D2 Ser63Asn S63N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CACNA2D3 Thr732Met T732M not reviewed Insufficiently evaluated not reviewed unknown Array 74 9648 0.00766998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.584 - - 2 - 1 N - - CACNA2D4 Arg707His R707H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10176 0.00343947 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - CACNA2D4 Ile327Val I327V not reviewed Insufficiently evaluated not reviewed unknown Array rs10735005 9482 10326 0.918265 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CACNB1 Thr241Ile T241I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CACNB2 Lys8Glu K8E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - CACNB2 Asp171Glu D171E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp172Glu D172E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp178Glu D178E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp198Glu D198E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp226Glu D226E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - CACNB2 Arg551Gly R551G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CACNB2 Arg552Gly R552G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg554Gly R554G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg558Gly R558G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg568Gly R568G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg578Gly R578G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg582Gly R582G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg606Gly R606G not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - CACNB2 Asp600Glu D600E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp601Glu D601E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp603Glu D603E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp607Glu D607E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp617Glu D617E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.161 - - -2 - 0 N - - CACNB2 Asp627Glu D627E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp631Glu D631E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Asp655Glu D655E not reviewed Insufficiently evaluated not reviewed unknown Array rs58225473 1639 10754 0.152408 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - CACNB3 Arg423His R423H not reviewed Insufficiently evaluated not reviewed unknown Array rs2229954 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - CACNG1 Gly196Ser G196S not reviewed Insufficiently evaluated not reviewed unknown Array rs1799938 908 10758 0.0844023 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 - 5 - - CACNG2 Ala281Gly A281G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNG4 Val109Ile V109I not reviewed Insufficiently evaluated not reviewed unknown Array rs35104874 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - CACNG5 Val194Ile V194I not reviewed Insufficiently evaluated not reviewed unknown Array rs2286677 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - CACNG5 Gln277Stop Q277X not reviewed Insufficiently evaluated not reviewed unknown Array rs62621240 202 10758 0.0187767 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNG6 Arg127Cys R127C not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.887 - - 8 Y 2 N - - CACNG6 Cys181Ser C181S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CACNG6 Cys206Ser C206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CACNG6 Cys252Ser C252S not reviewed Insufficiently evaluated not reviewed unknown Array rs12980121 414 10700 0.0386916 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CAD Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - -3 - 3 - 10 - - CAD Val1809Ile V1809I not reviewed Insufficiently evaluated not reviewed unknown Array rs72858438 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - CADM1 Asp285Glu D285E not reviewed Insufficiently evaluated not reviewed unknown Array rs45525440 358 10758 0.0332776 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - CADM2 Thr344Ser T344S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CADM4 Glu173Gly E173G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - CADPS2 Tyr1066Stop Y1066X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CADPS2 Tyr1107Stop Y1107X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAGE1 Glu601Gly E601G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAGE1 Glu146Ala E146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CALB2 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array rs11545954 1545 10758 0.143614 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CALCA Ser123Thr S123T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 1 - 4 - - CALCA Ser76Arg S76R not reviewed Insufficiently evaluated not reviewed unknown Array rs5241 596 10758 0.0554006 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - CALCA Asn57Asp N57D not reviewed Insufficiently evaluated not reviewed unknown Array rs5239 10575 10758 0.982989 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CALCA Gly2Arg G2R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 3 - 8 - - CALCOCO1 Arg308Lys R308K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CALCOCO1 Arg393Lys R393K not reviewed Insufficiently evaluated not reviewed unknown Array rs3741659 1431 10758 0.133017 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.235 - - -3 - 0 N - - CALCOCO2 Gly140Glu G140E not reviewed Insufficiently evaluated not reviewed unknown Array rs550510 1158 10758 0.107641 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - CALCOCO2 Val248Ala V248A not reviewed Insufficiently evaluated not reviewed unknown Array rs2303015 1275 10758 0.118516 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 1 N - - CALCOCO2 Pro389Ala P389A not reviewed Insufficiently evaluated not reviewed unknown Array rs10278 3378 10758 0.313999 26 0 34 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 0 N - - CALCR Leu447Pro L447P not reviewed Insufficiently evaluated not reviewed unknown Array rs1801197 3559 10758 0.330824 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CALCRL Asn8Tyr N8Y not reviewed Insufficiently evaluated not reviewed unknown Array rs698577 10663 10680 0.998408 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CALD1 Glu61Lys E61K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 His397Arg H397R not reviewed Insufficiently evaluated not reviewed unknown Array rs6973420 4826 10758 0.448596 42 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CALHM1 Ser305Arg S305R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - CALHM1 Leu86Pro L86P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2986017 8572 10744 0.797841 26 0 43 1 1 3 Y - - - - - - - - - - - - - Y - - - 7 Y 1 N - - CALHM2 Ala96Thr A96T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232659 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CALHM3 Asp299Asn D299N not reviewed Insufficiently evaluated not reviewed unknown Array rs2986035 2331 3234 0.720779 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CALML4 Arg40Stop R40X not reviewed Insufficiently evaluated not reviewed unknown Array rs11071990 894 10758 0.0831009 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CALML5 Lys74Arg K74R not reviewed Insufficiently evaluated not reviewed unknown Array rs10904516 1009 10758 0.0937907 39 0 39 0 0 - - - - - - - - - - - - - - - - 0.042 - - -3 - 0 N - - CALML5 Ser58Gly S58G not reviewed Insufficiently evaluated not reviewed unknown Array rs11546426 3658 10758 0.340026 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - CALML5 Gly26Ser G26S not reviewed Insufficiently evaluated not reviewed unknown Array rs61164868 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.528 - - 2 - 2 - 1 - - CALML6 Arg29Cys R29C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10584 0.000661375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - CALML6 Trp60Arg W60R not reviewed Insufficiently evaluated not reviewed unknown Array rs28581776 1513 10754 0.140692 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.024 - - 7 Y 0 N - - CALN1 Phe3Ser F3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - CALN1 Phe45Ser F45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CALR3 Thr283Ile T283I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CALR3 Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array rs12459238 230 10758 0.0213794 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - CALU Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2290228 1571 10758 0.146031 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CALU Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array rs2307040 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMK1 Glu361Lys E361K not reviewed Insufficiently evaluated not reviewed unknown Array rs56033923 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 1 - 3 - - CAMK1 Val312Gly V312G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - 8 Y 1 N - - CAMK1 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMK1G Val329Ile V329I not reviewed Insufficiently evaluated not reviewed unknown Array rs11119315 2326 10758 0.216211 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CAMK2B Pro519Leu P519L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAMK2B Glu510Lys E510K not reviewed Insufficiently evaluated not reviewed unknown Array rs35452727 950 10354 0.091752 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CAMK2D Asn313Asp N313D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - CAMK2D Asp167Glu D167E not reviewed Insufficiently evaluated not reviewed unknown Array rs35367671 39 10758 0.00362521 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAMK2G Glu100Stop E100X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAMK2G Glu97Gly E97G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAMK4 Asp178Asn D178N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.244 - - -1 - 2 - 3 - - CAMKK1 Glu375Gly E375G not reviewed Insufficiently evaluated not reviewed unknown Array rs7214723 3732 10758 0.346905 27 0 31 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - CAMKK1 Glu413Gly E413G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAMKK1 Pro314Ser P314S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CAMKK1 Pro352Ser P352S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - CAMKK2 Arg363Cys R363C not reviewed Insufficiently evaluated not reviewed unknown Array rs1132780 1963 10758 0.182469 25 0 26 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - CAMKK2 Thr85Ser T85S not reviewed Insufficiently evaluated not reviewed unknown Array rs3817190 5010 10748 0.466133 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CAMLG Arg46Pro R46P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CAMLG Ile47Phe I47F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - CAMLG Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array rs12657663 836 10758 0.0777096 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CAMSAP1 Glu900Lys E900K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CAMSAP1L1 Glu197Gly E197G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAMSAP1L1 His463Arg H463R not reviewed Insufficiently evaluated not reviewed unknown Array rs57213993 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAMSAP1L1 Cys501Tyr C501Y not reviewed Insufficiently evaluated not reviewed unknown Array rs60174212 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAMSAP1L1 Pro922Ser P922S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAMSAP1L1 Thr991Pro T991P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CAMTA1 Arg513Gln R513Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - CAMTA1 Gly1387Asp G1387D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - CAMTA2 Ser1018Ala S1018A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - -1 - 1 N - - CAMTA2 Ser903Pro S903P not reviewed Insufficiently evaluated not reviewed unknown Array rs16942615 958 10758 0.08905 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAMTA2 Ala267Pro A267P not reviewed Insufficiently evaluated not reviewed unknown Array rs238234 8703 10234 0.850401 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CAMTA2 Leu136Val L136V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - CAND1 Leu1012Ile L1012I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 3 - 1 - - CAND2 Val303Ile V303I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CAND2 Gln315Arg Q315R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305398 84 124 0.677419 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CAND2 Pro383Leu P383L not reviewed Insufficiently evaluated not reviewed unknown Array rs2305397 48 128 0.375 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CAND2 Ser440Pro S440P not reviewed Insufficiently evaluated not reviewed unknown Array rs3732675 86 128 0.671875 47 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAND2 His765Pro H765P not reviewed Insufficiently evaluated not reviewed unknown Array rs3732678 77 116 0.663793 38 0 62 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CAND2 Val897Ile V897I not reviewed Insufficiently evaluated not reviewed unknown Array rs3817121 17 128 0.132812 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CAND2 Ala1019Val A1019V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAND2 Ala1108Thr A1108T not reviewed Insufficiently evaluated not reviewed unknown Array rs12629133 64 128 0.5 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CAP1 Cys229Gly C229G not reviewed Insufficiently evaluated not reviewed unknown Array rs11207440 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CAP1 Cys236Gly C236G not reviewed Insufficiently evaluated not reviewed unknown Array rs6665926 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CAP1 Ile245Ser I245S not reviewed Insufficiently evaluated not reviewed unknown Array rs6665933 124 124 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CAP1 Cys247Gly C247G not reviewed Insufficiently evaluated not reviewed unknown Array rs6665936 122 122 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CAP1 Tyr249Asp Y249D not reviewed Insufficiently evaluated not reviewed unknown Array rs6665937 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CAP1 Ser256Ala S256A not reviewed Insufficiently evaluated not reviewed unknown Array rs6665944 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CAPG His335Arg H335R not reviewed Insufficiently evaluated not reviewed unknown Array rs6886 7297 10758 0.678286 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CAPG Val41Ile V41I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229668 1332 10758 0.123815 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CAPN1 Arg433Pro R433P not reviewed Insufficiently evaluated not reviewed unknown Array rs10895991 613 10176 0.0602398 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - CAPN10 Thr504Ala T504A not reviewed Insufficiently evaluated not reviewed unknown Array rs7607759 1159 9724 0.11919 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CAPN10 Ile132Val I132V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CAPN10 Ile511Val I511V not reviewed Insufficiently evaluated not reviewed unknown Array rs2975766 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CAPN10 Ile666Val I666V not reviewed Insufficiently evaluated not reviewed unknown Array rs2975766 10446 10674 0.97864 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CAPN11 Val266Met V266M not reviewed Insufficiently evaluated not reviewed unknown Array rs6938938 1178 9940 0.118511 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - CAPN11 Val441Ala V441A not reviewed Insufficiently evaluated not reviewed unknown Array 55 10516 0.00523013 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 5 - - CAPN11 Ile521Val I521V not reviewed Insufficiently evaluated not reviewed unknown Array rs34710081 1944 10266 0.189363 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -4 - 0 N - - CAPN11 Ser728Asn S728N not reviewed Insufficiently evaluated not reviewed unknown Array rs7761137 3142 9898 0.317438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CAPN12 Gln554Stop Q554X not reviewed Insufficiently evaluated not reviewed unknown Array 8 10720 0.000746268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAPN12 His469Arg H469R not reviewed Insufficiently evaluated not reviewed unknown Array 196 5722 0.0342538 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAPN12 Thr334Ala T334A not reviewed Insufficiently evaluated not reviewed unknown Array rs73038948 1629 10726 0.151874 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.5 - - 1 - 0 N - - CAPN12 Cys287Arg C287R not reviewed Insufficiently evaluated not reviewed unknown Array rs12983010 868 10746 0.0807742 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CAPN13 Ile596Thr I596T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.724 - - 3 - 1 N - - CAPN13 Gln349Lys Q349K not reviewed Insufficiently evaluated not reviewed unknown Array rs62142192 1353 9902 0.136639 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.422 - - -2 - 0 N - - CAPN13 Ala280Thr A280T not reviewed Insufficiently evaluated not reviewed unknown Array rs508405 7386 9786 0.754752 51 0 85 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CAPN13 His249Tyr H249Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17010210 35 10124 0.00345713 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 5 - - CAPN14 Gly667Ser G667S not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 2 N - - CAPN14 Val626Ile V626I not reviewed Insufficiently evaluated not reviewed unknown Array 946 3234 0.292517 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CAPN14 Asp520Asn D520N not reviewed Insufficiently evaluated not reviewed unknown Array 786 3234 0.243043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - CAPN14 Lys510Asn K510N not reviewed Insufficiently evaluated not reviewed unknown Array 786 3234 0.243043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 1 - 1 N - - CAPN2 Asp22Glu D22E not reviewed Insufficiently evaluated not reviewed unknown Array rs25655 10558 10732 0.983787 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CAPN2 Lys398Arg K398R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CAPN2 Lys476Arg K476R not reviewed Insufficiently evaluated not reviewed unknown Array rs9804140 574 10758 0.0533556 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - CAPN2 Glu443Gln E443Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - CAPN2 Glu521Gln E521Q not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - CAPN2 Lys490Gln K490Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAPN2 Lys568Gln K568Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17599 2225 10758 0.206823 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - CAPN3 Thr184Met T184M benign Low clinical importance, Uncertain benign undefined Array rs35889956 140 10758 0.0130136 2 0 2 3 3 ! Y ! Y 1 Y - - 0 - 0 - Y - - - 1.0 Y Y 2 - Limb-Girdle Muscular Dystrophies, Autosomal Recessive 2 387 2 162 0.419 5 - 5 0 0 Probably benign -- this was implicated in Limb-girdle muscular dystrophy when homozygous (in a recessive manner), but the reports lacked statistical significance and a relatively high allele frequency (>1%) contradicts the hypothesis. CAPN3 Thr97Met T97M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 2 - - CAPN3 Ala149Thr A149T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - Y - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - CAPN3 Ala236Thr A236T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801449 2638 10758 0.245213 25 0 34 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 4 - - CAPN5 Asp10Glu D10E not reviewed Insufficiently evaluated not reviewed unknown Array rs34801837 345 10758 0.0320692 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CAPN5 Gly56Asp G56D not reviewed Insufficiently evaluated not reviewed unknown Array rs57014785 185 10740 0.0172253 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CAPN5 Leu632Ile L632I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAPN6 Val277Leu V277L not reviewed Insufficiently evaluated not reviewed unknown Array rs12013711 2120 8761 0.241982 18 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CAPN8 Arg575Gln R575Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAPN8 Arg550Trp R550W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAPN8 Val455Ile V455I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CAPN8 Ser245Tyr S245Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35539373 1828 3234 0.565244 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CAPN8 Ala136Val A136V not reviewed Insufficiently evaluated not reviewed unknown Array 181 3234 0.0559678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CAPN9 Ala102Val A102V not reviewed Insufficiently evaluated not reviewed unknown Array rs12562749 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 3 - 5 - - CAPN9 Ser122Arg S122R not reviewed Insufficiently evaluated not reviewed unknown Array rs28359608 1588 10758 0.147611 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.057 - - 3 - 0 N - - CAPN9 Asp164Asn D164N not reviewed Insufficiently evaluated not reviewed unknown Array rs28359632 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - -1 - 1 - 4 - - CAPN9 Ile234Thr I234T not reviewed Insufficiently evaluated not reviewed unknown Array rs28359644 90 10758 0.00836587 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 5 - - CAPN9 Ala239Thr A239T not reviewed Insufficiently evaluated not reviewed unknown Array rs28359647 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 5 - - CAPN9 Lys296Gln K296Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1933631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAPN9 Lys322Gln K322Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1933631 3629 10758 0.33733 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CAPN9 His301Gln H301Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - CAPN9 His327Gln H327Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28359684 268 10758 0.0249117 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 5 - - CAPN9 Glu316Lys E316K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - CAPN9 Glu342Lys E342K not reviewed Insufficiently evaluated not reviewed unknown Array rs16852652 375 10758 0.0348578 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 1 N - - CAPN9 Arg496Trp R496W not reviewed Insufficiently evaluated not reviewed unknown Array rs12731961 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAPN9 Arg522Trp R522W not reviewed Insufficiently evaluated not reviewed unknown Array rs12731961 2388 10758 0.221974 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.25 - - 7 Y 0 N - - CAPN9 Met585Ile M585I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CAPN9 Met611Ile M611I not reviewed Insufficiently evaluated not reviewed unknown Array rs16852683 665 10758 0.0618145 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 1 N - - CAPRIN1 Asn606Ser N606S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 1 N - - CAPRIN2 Pro277Arg P277R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CAPRIN2 Pro610Arg P610R not reviewed Insufficiently evaluated not reviewed unknown Array rs73079976 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CAPRIN2 Met186Val M186V not reviewed Insufficiently evaluated not reviewed unknown Array rs2304630 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAPRIN2 Met519Val M519V not reviewed Insufficiently evaluated not reviewed unknown Array rs2304630 7129 10758 0.66267 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CAPRIN2 Lys237Arg K237R not reviewed Insufficiently evaluated not reviewed unknown Array rs12146709 2046 10758 0.190184 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - CAPRIN2 Pro114Ser P114S not reviewed Insufficiently evaluated not reviewed unknown Array rs17688567 561 10758 0.0521472 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - CAPS Arg12Gln R12Q not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.821 - - 0 - 2 - 1 - - CAPS Pro88Thr P88T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741511 222 10728 0.0206935 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.034 - - 4 Y 1 - 10 - - CAPS Val113Met V113M not reviewed Insufficiently evaluated not reviewed unknown Array 98 10756 0.00911119 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.75 - - 0 - 2 - 10 - - CAPS2 Leu125Phe L125F not reviewed Insufficiently evaluated not reviewed unknown Array rs10879901 754 3232 0.233292 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - CAPSL Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1445898 4150 10756 0.385831 32 0 44 0 0 - - - - - - - - - - - - - - Y - - - - 0 - 1 N - - CAPZA2 Leu88Stop L88X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAPZA3 Arg39His R39H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10756 0.00585719 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - 1 - 2 N - - CAPZA3 Asn167Lys N167K not reviewed Insufficiently evaluated not reviewed unknown Array 79 10754 0.0073461 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - CARD10 Leu800Arg L800R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - CARD10 Arg289Gln R289Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9610775 2165 10754 0.20132 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 1 N - - CARD11 Glu530Asp E530D not reviewed Insufficiently evaluated not reviewed unknown Array rs41515445 331 10758 0.0307678 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CARD14 Arg310Ser R310S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CARD14 Arg547Ser R547S not reviewed Insufficiently evaluated not reviewed unknown Array rs2066964 3855 10758 0.358338 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CARD14 Val348Ile V348I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CARD14 Val585Ile V585I not reviewed Insufficiently evaluated not reviewed unknown Array rs34367357 607 10756 0.0564336 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CARD14 Arg360Trp R360W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - CARD14 Arg597Trp R597W not reviewed Insufficiently evaluated not reviewed unknown Array rs73429414 141 10756 0.013109 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - CARD14 Leu793Ser L793S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CARD14 Arg820Trp R820W not reviewed Insufficiently evaluated not reviewed unknown Array rs11652075 4376 10754 0.406918 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 1 N - - CARD14 Arg941Gln R941Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74000616 39 9912 0.00393462 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - CARD14 Arg962Gln R962Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34850974 506 10600 0.0477358 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARD16 Asn167Ile N167I not reviewed Insufficiently evaluated not reviewed unknown Array rs542571 2603 10758 0.241959 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CARD17 Thr86Met T86M not reviewed Insufficiently evaluated not reviewed unknown Array rs12806837 12 128 0.09375 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.471 - - 2 - 0 N - - CARD6 Ile194Val I194V not reviewed Insufficiently evaluated not reviewed unknown Array rs61757654 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - CARD6 Phe255Leu F255L not reviewed Insufficiently evaluated not reviewed unknown Array rs35188876 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CARD6 Arg368Gln R368Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARD6 Asp515Asn D515N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CARD6 Gln542Stop Q542X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - CARD6 Leu839Phe L839F not reviewed Insufficiently evaluated not reviewed unknown Array rs35672368 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CARD6 Glu840Stop E840X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CARD8 Pro219Arg P219R not reviewed Insufficiently evaluated not reviewed unknown Array rs73573000 477 10758 0.0443391 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - CARD8 Glu99Ala E99A not reviewed Insufficiently evaluated not reviewed unknown Array rs59878320 475 10758 0.0441532 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CARD8 Ile68Val I68V not reviewed Insufficiently evaluated not reviewed unknown Array rs11881179 476 10756 0.0442544 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.423 - - -4 - 1 N - - CARD8 Cys10Stop C10X not reviewed Insufficiently evaluated not reviewed unknown Array rs2043211 3108 10758 0.288901 34 0 38 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CARD9 Val385Leu V385L not reviewed Insufficiently evaluated not reviewed unknown Array rs3124993 169 10712 0.0157767 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CARD9 Ser12Asn S12N not reviewed Insufficiently evaluated not reviewed unknown Array rs4077515 4027 10758 0.374326 31 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CARKD Asn133Ser N133S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CARKD Lys140Glu K140E not reviewed Insufficiently evaluated not reviewed unknown Array rs3742191 361 10758 0.0335564 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CARKD Val149Ile V149I not reviewed Insufficiently evaluated not reviewed unknown Array rs3742192 344 10758 0.0319762 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.463 - - -4 - 1 N - - CARKD Arg199Trp R199W not reviewed Insufficiently evaluated not reviewed unknown Array rs61734918 32 10756 0.00297508 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.714 - - 7 Y 1 N - - CARKD Ile312Thr I312T not reviewed Insufficiently evaluated not reviewed unknown Array rs41275126 1194 10758 0.110987 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CARM1 Val331Glu V331E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CARS Ala658Val A658V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CARS Ala668Val A668V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - CARS Ala751Val A751V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CARS Ala148Ser A148S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - CARS Ala158Ser A158S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CARS Ala241Ser A241S not reviewed Insufficiently evaluated not reviewed unknown Array rs12796489 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - CARS2 Ile180Phe I180F not reviewed Insufficiently evaluated not reviewed unknown Array rs72661692 765 10758 0.0711099 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.174 - - 2 - 0 N - - CASC1 Ala633Glu A633E not reviewed Insufficiently evaluated not reviewed unknown Array rs859146 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASC1 Ala639Glu A639E not reviewed Insufficiently evaluated not reviewed unknown Array rs859146 10743 10758 0.998606 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CASC1 Val626Gly V626G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 3 - 1 - - CASC1 Val632Gly V632G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - CASC1 Thr524Ala T524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 1 - - CASC1 Thr530Ala T530A not reviewed Insufficiently evaluated not reviewed unknown Array rs34164267 349 10758 0.032441 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CASC1 Thr588Ala T588A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CASC1 Arg33Ser R33S not reviewed Insufficiently evaluated not reviewed unknown Array rs10842496 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.62 - - 3 - 1 N - - CASC1 Arg39Ser R39S not reviewed Insufficiently evaluated not reviewed unknown Array rs10842496 3088 10754 0.287149 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CASC1 Arg97Ser R97S not reviewed Insufficiently evaluated not reviewed unknown Array rs10842496 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASC1 Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CASC5 Arg43Thr R43T not reviewed Insufficiently evaluated not reviewed unknown Array rs7177192 7787 9450 0.824021 49 0 70 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CASC5 Met82Thr M82T not reviewed Insufficiently evaluated not reviewed unknown Array 351 9440 0.0371822 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.662 - - 2 - 1 N - - CASC5 Arg102Gln R102Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - CASC5 Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CASC5 Thr87Ala T87A not reviewed Insufficiently evaluated not reviewed unknown Array rs12911738 4085 4734 0.862907 36 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CASC5 Ile144Phe I144F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CASC5 Ile170Phe I170F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 2 - 1 N - - CASC5 Met151Val M151V not reviewed Insufficiently evaluated not reviewed unknown Array rs35146555 46 9576 0.00480368 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASC5 Met177Val M177V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CASC5 Ala460Ser A460S not reviewed Insufficiently evaluated not reviewed unknown Array rs2412541 7844 9524 0.823604 48 0 70 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CASC5 Ala486Ser A486S not reviewed Insufficiently evaluated not reviewed unknown Array rs2412541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CASC5 Ile498Asn I498N not reviewed Insufficiently evaluated not reviewed unknown Array rs59648663 107 9634 0.0111065 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CASC5 Ile524Asn I524N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.511 - - 7 Y 1 N - - CASC5 Met572Thr M572T not reviewed Insufficiently evaluated not reviewed unknown Array rs11858113 3774 9678 0.389957 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CASC5 Met598Thr M598T not reviewed Insufficiently evaluated not reviewed unknown Array rs11858113 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CASC5 Ile672Leu I672L not reviewed Insufficiently evaluated not reviewed unknown Array rs73394756 54 9486 0.0056926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASC5 Ile698Leu I698L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.337 - - -2 - 1 N - - CASC5 Thr790Ser T790S not reviewed Insufficiently evaluated not reviewed unknown Array 174 9626 0.018076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASC5 Thr816Ser T816S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.475 - - -2 - 1 N - - CASC5 Arg910Gly R910G not reviewed Insufficiently evaluated not reviewed unknown Array rs8040502 8428 9682 0.870481 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CASC5 Arg936Gly R936G not reviewed Insufficiently evaluated not reviewed unknown Array rs8040502 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASC5 Leu1164Val L1164V not reviewed Insufficiently evaluated not reviewed unknown Array rs58614880 44 9634 0.00456716 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CASC5 Leu1190Val L1190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 2 - 1 - - CASC5 Lys1259Glu K1259E not reviewed Insufficiently evaluated not reviewed unknown Array rs17747633 3144 9594 0.327705 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CASC5 Lys1285Glu K1285E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CASC5 Ile2012Val I2012V not reviewed Insufficiently evaluated not reviewed unknown Array 39 9428 0.00413661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CASC5 Ile2038Val I2038V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - CASC5 Cys2312Tyr C2312Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61164860 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CASC5 Cys2338Tyr C2338Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 3 - 1 - - CASD1 Ala568Thr A568T not reviewed Insufficiently evaluated not reviewed unknown Array rs72615132 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CASK Arg612Lys R612K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CASK Arg618Lys R618K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 2 N - - CASK Arg641Lys R641K not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 1 - 1 - - CASKIN1 Arg784Gln R784Q not reviewed Insufficiently evaluated not reviewed unknown Array 80 9334 0.00857082 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - CASKIN1 Lys38Arg K38R not reviewed Insufficiently evaluated not reviewed unknown Array rs73498170 70 9782 0.007156 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.891 - - -3 - 2 N - - CASKIN2 Gly1015Arg G1015R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASKIN2 Gly1097Arg G1097R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10664 0.00637659 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - CASKIN2 Pro1064Leu P1064L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - CASKIN2 Pro982Leu P982L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CASKIN2 Phe1009Leu F1009L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - CASKIN2 Phe927Leu F927L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASKIN2 Glu809Gly E809G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASKIN2 Glu891Gly E891G not reviewed Insufficiently evaluated not reviewed unknown Array rs7503373 8916 9456 0.942893 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CASKIN2 Ser303Asn S303N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASKIN2 Ser385Asn S385N not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP1 Lys226Arg K226R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CASP1 Lys298Arg K298R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CASP1 Lys319Arg K319R not reviewed Insufficiently evaluated not reviewed unknown Array rs61751523 384 10758 0.0356944 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CASP10 Val367Ile V367I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 3 - - CASP10 Val410Ile V410I protective Low clinical importance, Likely protective dominant Array rs13010627 510 10758 0.0474066 1 0 1 2 2 1 Y - - 4 Y 0 - 3 Y 3 Y Y - - - 0.874 Y Y -4 - 5 - 9 0 1 Reported to have a protective effect on breast cancer. If the lifetime risk of breast cancer is 12%, women with this variant may have a lower risk of 8-9% (30% less than average). CASP10 Leu479Ile L479I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - CASP10 Leu522Ile L522I not reviewed Insufficiently evaluated not reviewed unknown Array rs13006529 4721 10758 0.438836 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 2 - - CASP2 Gly423Ala G423A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - CASP3 Ser249Tyr S249Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CASP4 Glu228Asp E228D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASP4 Glu284Asp E284D not reviewed Insufficiently evaluated not reviewed unknown Array rs55901059 247 10758 0.0229597 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CASP4 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CASP4 Pro95Leu P95L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CASP4 Asp47Asn D47N not reviewed Insufficiently evaluated not reviewed unknown Array rs56226603 293 10758 0.0272355 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - CASP5 Leu116Val L116V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP5 Leu192Val L192V not reviewed Insufficiently evaluated not reviewed unknown Array rs523104 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP5 Leu276Val L276V not reviewed Insufficiently evaluated not reviewed unknown Array rs523104 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP5 Leu334Val L334V not reviewed Insufficiently evaluated not reviewed unknown Array rs523104 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP5 Leu347Val L347V not reviewed Insufficiently evaluated not reviewed unknown Array rs523104 4892 10758 0.454731 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CASP5 Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - CASP5 Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - CASP5 Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array 332 10758 0.0308608 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - CASP5 Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - CASP5 Thr106Ala T106A not reviewed Insufficiently evaluated not reviewed unknown Array rs507879 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP5 Thr119Ala T119A not reviewed Insufficiently evaluated not reviewed unknown Array rs507879 5338 10756 0.496281 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CASP5 Thr48Ala T48A not reviewed Insufficiently evaluated not reviewed unknown Array rs507879 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP5 Phe29Leu F29L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP5 Phe42Leu F42L not reviewed Insufficiently evaluated not reviewed unknown Array 729 10758 0.0677635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CASP7 Asp37Glu D37E not reviewed Insufficiently evaluated not reviewed unknown Array rs11593766 1177 10758 0.109407 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CASP7 Asp4Glu D4E not reviewed Insufficiently evaluated not reviewed unknown Array rs11593766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASP7 Asp255Glu D255E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASP7 Asp288Glu D288E not reviewed Insufficiently evaluated not reviewed unknown Array rs2227310 2303 10758 0.214073 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CASP7 Thr244Ser T244S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASP7 Arg249Lys R249K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CASP8 Met1Thr M1T benign Low clinical importance, Uncertain benign unknown Array rs3769824 303 9760 0.0310451 4 0 4 1 0 ! Y - - 2 Y - - - - - - Y - - - 0.999 Y - 2 - 3 N 0 0 Probably benign. Although start codons can be extremely disruptive and this gene is implicated in a rare disease (autoimmune lymphoproliferative syndrome), the allele frequency for this variant (2-3%) is high enough to contradict such a strong pathogenic effect. This may be because the gene has many other transcripts that do not include this position as exonic. CASP8 Lys14Arg K14R not reviewed Insufficiently evaluated not reviewed unknown Array rs3769823 6599 9834 0.671039 46 0 71 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 1 - - CASP8 Asp270His D270H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CASP8 Asp285His D285H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - CASP8 Asp302His D302H protective Insufficiently evaluated protective unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - Associated with protection against breast cancer. CASP8 Asp344His D344H not reviewed Insufficiently evaluated not reviewed unknown Array rs1045485 1192 10758 0.110801 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - CASP8AP2 Ile1239Ser I1239S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CASP8AP2 Pro1341Gln P1341Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - CASP8AP2 Pro1659Ser P1659S not reviewed Insufficiently evaluated not reviewed unknown Array rs3799896 8 9808 0.00081566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.136 - - 3 - 1 - 4 - - CASP8AP2 Asp1770Gly D1770G not reviewed Insufficiently evaluated not reviewed unknown Array rs73752820 41 9840 0.00416667 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.484 - - 4 Y 1 N - - CASP9 Gln221Arg Q221R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052576 6315 10758 0.587005 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CASP9 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 5869 10286 0.570581 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 2 - 0 N - - CASQ1 His72Arg H72R not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASQ1 Glu378Gly E378G not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.277 - - 6 Y 1 N - - CASQ2 Asp309Gly D309G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.299 Y Y 4 Y 3 N - - CASQ2 His244Arg H244R not reviewed Insufficiently evaluated not reviewed unknown Array rs28730716 290 10758 0.0269567 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.871 Y Y 1 - 5 - 1 - - CASQ2 Thr66Ala T66A not reviewed Insufficiently evaluated not reviewed unknown Array rs4074536 3683 10758 0.34235 37 0 47 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 9 - - CASR Cys542Gly C542G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.874 Y - 7 Y 3 N - - CASR Ala986Ser A986S benign Insufficiently evaluated benign unknown Array rs1801725 1173 10758 0.109035 18 0 18 4 4 1 Y - - - - - - - - - - Y Y - - 0.003 Y - -1 - 3 N 10 - - Associated with higher serum level of calcium. CASR Arg990Gly R990G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1042636 690 10758 0.0641383 11 0 13 6 6 5 Y 3 Y - - - - 2 - - - Y - - Y 0.939 Y - 6 Y 4 N 10 - - CASR Glu1011Gln E1011Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1801726 9858 10758 0.916341 55 0 102 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 2 - - CASS4 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - CASS4 Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CASS4 Pro660Ser P660S not reviewed Insufficiently evaluated not reviewed unknown Array rs35031530 931 10758 0.0865403 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CASS4 Gln780His Q780H not reviewed Insufficiently evaluated not reviewed unknown Array rs7272702 319 10756 0.0296579 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - CAST Cys131Ser C131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys354Ser C354S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys367Ser C367S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys373Ser C373S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys386Ser C386S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys408Ser C408S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CAST Cys450Ser C450S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys456Ser C456S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys469Ser C469S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys472Ser C472S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAST Cys491Ser C491S not reviewed Insufficiently evaluated not reviewed unknown Array rs754615 3861 10758 0.358896 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAST Ala260Val A260V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala483Val A483V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala496Val A496V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala502Val A502V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala515Val A515V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - CAST Ala537Val A537V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.381 - - 2 - 2 - 4 - - CAST Ala579Val A579V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala585Val A585V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala598Val A598V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CAST Ala601Val A601V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 2 - 3 - - CAST Ala620Val A620V not reviewed Insufficiently evaluated not reviewed unknown Array rs4948 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - CAT Arg189Cys R189C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.49 - - 8 Y 2 - 9 - - CAT Thr291Ala T291A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - CATSPER1 Val652Ile V652I not reviewed Insufficiently evaluated not reviewed unknown Array rs3814747 10341 10756 0.961417 56 0 106 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - CATSPER1 Ser505Leu S505L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.774 - Y 6 Y 2 N - - CATSPER1 Val353Ile V353I not reviewed Insufficiently evaluated not reviewed unknown Array rs1191715 179 10758 0.0166388 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.033 - Y -4 - 1 N - - CATSPER1 Arg295Trp R295W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.534 - Y 7 Y 2 N - - CATSPER1 Gly244Arg G244R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 6 Y 3 N - - CATSPER1 Gly133Ser G133S not reviewed Insufficiently evaluated not reviewed unknown Array rs1203998 3549 10758 0.329894 32 0 42 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 - 1 - - CATSPER2 Val57Ile V57I not reviewed Insufficiently evaluated not reviewed unknown Array rs8042868 1540 10754 0.143203 27 0 35 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - CATSPER3 Asn204Lys N204K not reviewed Insufficiently evaluated not reviewed unknown Array rs3896260 1496 10758 0.139059 18 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CATSPER4 His50Arg H50R not reviewed Insufficiently evaluated not reviewed unknown Array rs41284333 19 128 0.148438 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.861 - - 1 - 1 N - - CATSPER4 Gln77Arg Q77R not reviewed Insufficiently evaluated not reviewed unknown Array rs11247866 18 126 0.142857 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - CATSPER4 Arg170Trp R170W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 7 Y 3 - 1 - - CATSPER4 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array rs17257155 18 128 0.140625 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - CATSPER4 Ser328Ile S328I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.239 - - 5 Y 1 N - - CATSPER4 Asp436Asn D436N not reviewed Insufficiently evaluated not reviewed unknown Array rs6657616 34 124 0.274194 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.105 - - -1 - 0 N - - CATSPERB Tyr459Cys Y459C not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CATSPERB Phe318Tyr F318Y not reviewed Insufficiently evaluated not reviewed unknown Array rs57706558 433 10752 0.0402716 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.589 - - -4 - 1 N - - CATSPERB Val248Ala V248A not reviewed Insufficiently evaluated not reviewed unknown Array rs72629402 432 10758 0.0401562 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - CAV2 Ala67Gly A67G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAV2 Gln130Glu Q130E not reviewed Insufficiently evaluated not reviewed unknown Array rs8940 2138 10758 0.198736 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 1 N - - CBARA1 Arg103Cys R103C not reviewed Insufficiently evaluated not reviewed unknown Array 39 9556 0.0040812 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - CBFA2T3 Gln181Glu Q181E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CBFA2T3 Gln267Glu Q267E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - CBFA2T3 Thr157Ala T157A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 1 N - - CBFA2T3 Thr71Ala T71A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - CBFA2T3 Arg103Gln R103Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734177 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 2 - 2 - - CBFA2T3 Arg103Pro R103P not reviewed Insufficiently evaluated not reviewed unknown Array rs61734177 687 10754 0.0638832 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.806 - - 5 Y 0 N - - CBL Val904Ile V904I not reviewed Insufficiently evaluated not reviewed unknown Array rs17122769 59 10758 0.00548429 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CBLB Asn883Asp N883D not reviewed Insufficiently evaluated not reviewed unknown Array rs35835913 228 10758 0.0211935 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.741 Y Y -1 - 3 N - - CBLB Asn466Asp N466D not reviewed Insufficiently evaluated not reviewed unknown Array rs61758360 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y -1 - 3 - 6 - - CBLC Lys153Thr K153T not reviewed Insufficiently evaluated not reviewed unknown Array rs35106910 727 10758 0.0675776 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 3 - 3 N - - CBLC His359Tyr H359Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CBLC His405Tyr H405Y benign Low clinical importance, Uncertain benign unknown Array rs3208856 403 10758 0.0374605 2 0 2 1 1 0 Y - - 3 Y - - - - - - Y - - - 0.958 Y Y -1 - 5 - 1 0 0 Probably benign. CBR3 Cys4Tyr C4Y pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8133052 3643 9894 0.368203 26 0 31 1 1 - - - - - - - - - - - - - - - Y 0.002 - - 6 Y 1 N - - CBR3 Leu84Val L84V not reviewed Insufficiently evaluated not reviewed unknown Array rs9282628 370 10758 0.034393 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 10 - - CBR3 Val244Met V244M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1056892 4307 10758 0.400353 32 0 41 2 2 - - - - - - - - - - - - - - - Y 0.014 - - 0 - 1 N - - CBR4 Leu70Met L70M not reviewed Insufficiently evaluated not reviewed unknown Array rs2877380 7182 10754 0.667845 43 0 72 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CBS Ile278Thr I278T pathogenic High clinical importance, Likely pathogenic recessive Array rs5742905 31 10758 0.00288158 5 0 5 6 6 1 Y 1 Y 5 Y - - 4 Y 3 Y Y Y - Y 0.047 Y Y 3 - Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 15 15 1 221 221.000 4 N 10 2 1 This recessive mutation causes homocystinuria in a recessive manner and is found in patients responsive to pyridoxine treatment. CBS Arg91Lys R91K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -3 - 3 - 6 - - CBWD1 Phe337Leu F337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBWD1 Phe354Leu F354L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBWD1 Phe373Leu F373L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - CBWD2 Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CBWD6 Glu288Asp E288D not reviewed Insufficiently evaluated not reviewed unknown Array 2801 6144 0.455892 4 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - CBWD6 Leu220Ile L220I not reviewed Insufficiently evaluated not reviewed unknown Array 2763 6314 0.437599 5 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CBX2 Phe194Leu F194L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBX2 Ala338Thr A338T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CBX2 Ala452Val A452V not reviewed Insufficiently evaluated not reviewed unknown Array 579 10726 0.053981 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CBX4 Val505Ala V505A not reviewed Insufficiently evaluated not reviewed unknown Array 220 9264 0.0237478 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CBX4 Ser192Asn S192N not reviewed Insufficiently evaluated not reviewed unknown Array 36 10742 0.00335133 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBX8 Gly317Val G317V not reviewed Insufficiently evaluated not reviewed unknown Array rs4889891 6295 10522 0.59827 45 0 63 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CC2D1A Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 9990 0.0026026 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - CC2D1A Gly781Val G781V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - CC2D1A Thr801Met T801M not reviewed Insufficiently evaluated not reviewed unknown Array rs2305777 1983 10278 0.192936 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 1 N - - CC2D1A Ala814Ser A814S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10242 0.0026362 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - CC2D1A Ala906Thr A906T not reviewed Insufficiently evaluated not reviewed unknown Array rs11669628 945 9944 0.0950322 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CC2D1B Lys742Glu K742E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - CC2D1B Arg660Cys R660C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - CC2D1B Val502Leu V502L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CC2D1B Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CC2D1B Met35Thr M35T not reviewed Insufficiently evaluated not reviewed unknown Array rs11555349 829 10758 0.0770589 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.673 - - 2 - 0 N - - CC2D2A Glu327Ala E327A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CC2D2A Glu376Ala E376A not reviewed Insufficiently evaluated not reviewed unknown Array rs16892095 182 9734 0.0186973 11 0 11 0 0 - - - - - - - - - - - - Y - - - 0.47 Y Y 3 - 3 N - - CC2D2B Asn64Asp N64D not reviewed Insufficiently evaluated not reviewed unknown Array rs17383738 1357 9528 0.142422 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - CC2D2B Gln322Leu Q322L not reviewed Insufficiently evaluated not reviewed unknown Array rs1336459 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 3 - 2 - - CC2D2B Gln401Leu Q401L not reviewed Insufficiently evaluated not reviewed unknown Array 310 9550 0.0324607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - CCBL2 Pro98Ser P98S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCBL2 Gly71Ala G71A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CCBL2 Ile40Met I40M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCBL2 Lys9Asn K9N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCBL2 Ser23Phe S23F not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - CCBP2 Tyr373Ser Y373S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228468 3699 10758 0.343837 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC101 Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - CCDC101 Cys74Ser C74S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 3 - 0 N - - CCDC102A Arg96Trp R96W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC102B Lys153Asn K153N not reviewed Insufficiently evaluated not reviewed unknown Array rs572020 9017 9706 0.929013 52 0 98 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC102B Thr237Arg T237R not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC102B Lys298Arg K298R not reviewed Insufficiently evaluated not reviewed unknown Array rs2187094 3128 10758 0.29076 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CCDC102B Cys346Phe C346F not reviewed Insufficiently evaluated not reviewed unknown Array rs745894 2218 10758 0.206172 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC102B Asn425Lys N425K not reviewed Insufficiently evaluated not reviewed unknown Array rs17080065 305 10758 0.028351 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC102B Ala429Pro A429P not reviewed Insufficiently evaluated not reviewed unknown Array rs9963788 787 10758 0.0731549 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC104 Glu6Asp E6D not reviewed Insufficiently evaluated not reviewed unknown Array rs34891804 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 1 - 2 - - CCDC104 Asp243Gly D243G not reviewed Insufficiently evaluated not reviewed unknown Array rs1045910 10250 10758 0.952779 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC104 Ile246Phe I246F not reviewed Insufficiently evaluated not reviewed unknown Array rs1045920 1644 10758 0.152817 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.059 - - 2 - 0 N - - CCDC105 Val58Met V58M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10672 0.00178036 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC105 Val245Met V245M not reviewed Insufficiently evaluated not reviewed unknown Array rs35352238 2249 10758 0.209054 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC105 Met248Thr M248T not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - CCDC105 Ser444Thr S444T not reviewed Insufficiently evaluated not reviewed unknown Array rs8111625 9212 10754 0.856611 56 0 102 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - CCDC105 Pro499Thr P499T not reviewed Insufficiently evaluated not reviewed unknown Array rs8112667 2153 10292 0.209192 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 1 N - - CCDC107 Ser190Phe S190F not reviewed Insufficiently evaluated not reviewed unknown Array rs2275420 24 128 0.1875 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC107 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array rs1339374 95 126 0.753968 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CCDC107 Glu228Lys E228K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - CCDC107 Ser242Cys S242C not reviewed Insufficiently evaluated not reviewed unknown Array rs10441685 9 128 0.0703125 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.212 - - 3 - 0 N - - CCDC108 Glu1804Lys E1804K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC108 Ile1552Thr I1552T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - CCDC108 Glu1547Gly E1547G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.306 - - 6 Y 1 N - - CCDC108 Leu1205Phe L1205F not reviewed Insufficiently evaluated not reviewed unknown Array rs9967806 2191 10758 0.203662 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC108 Lys806Met K806M not reviewed Insufficiently evaluated not reviewed unknown Array rs9653262 768 10758 0.0713887 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC108 Val653Ile V653I not reviewed Insufficiently evaluated not reviewed unknown Array rs73090878 41 10756 0.00381183 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC108 Ala342Ser A342S not reviewed Insufficiently evaluated not reviewed unknown Array rs56411706 1741 10758 0.161833 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.101 - - -1 - 0 N - - CCDC108 Val161Met V161M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC108 Ile142Leu I142L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - CCDC108 Ile77Leu I77L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC108 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array rs6736922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC108 Met66Leu M66L not reviewed Insufficiently evaluated not reviewed unknown Array rs6736922 7471 10758 0.69446 47 0 70 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - CCDC109B Ile63Asn I63N not reviewed Insufficiently evaluated not reviewed unknown Array rs4698744 886 3234 0.273964 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC109B Tyr253Phe Y253F not reviewed Insufficiently evaluated not reviewed unknown Array rs13846 2456 10758 0.228295 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CCDC109B Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array 507 10758 0.0471277 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC11 Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array rs35193847 2905 9694 0.29967 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 0 N - - CCDC11 Arg231Cys R231C not reviewed Insufficiently evaluated not reviewed unknown Array rs12607385 40 10230 0.00391007 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - CCDC11 Lys203Arg K203R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC11 Gln199Leu Q199L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - 5 Y 1 N - - CCDC110 Ser780Leu S780L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CCDC110 Ser817Leu S817L not reviewed Insufficiently evaluated not reviewed unknown Array rs9683564 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CCDC110 Gln632Arg Q632R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - 0 - 1 N - - CCDC110 Gln669Arg Q669R not reviewed Insufficiently evaluated not reviewed unknown Array rs6827370 1826 10746 0.169924 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 0 N - - CCDC110 Ile577Met I577M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC110 Ile614Met I614M not reviewed Insufficiently evaluated not reviewed unknown Array rs35596415 5180 10740 0.482309 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCDC110 Tyr463Asp Y463D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC110 Tyr500Asp Y500D not reviewed Insufficiently evaluated not reviewed unknown Array rs59319722 5133 10700 0.47972 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC110 Ser372Phe S372F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC110 Ser409Phe S409F not reviewed Insufficiently evaluated not reviewed unknown Array rs11132306 5184 10754 0.482053 36 0 45 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC110 Leu345Met L345M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC110 Leu382Met L382M not reviewed Insufficiently evaluated not reviewed unknown Array rs9999097 107 10758 0.00994609 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.728 - - -3 - 1 N - - CCDC110 Leu262Met L262M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - -3 - 1 N - - CCDC110 Leu299Met L299M not reviewed Insufficiently evaluated not reviewed unknown Array rs7698680 5204 10752 0.484003 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CCDC110 Pro172Gln P172Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC110 Pro209Gln P209Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7699687 5175 10752 0.481306 36 0 45 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC111 Gln168Arg Q168R not reviewed Insufficiently evaluated not reviewed unknown Array rs2463447 10309 10758 0.958264 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC111 Thr505Lys T505K not reviewed Insufficiently evaluated not reviewed unknown Array rs14969 2133 10758 0.198271 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC112 Asp259Val D259V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - CCDC112 Asp342Val D342V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC112 Gln234Arg Q234R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - CCDC112 Gln317Arg Q317R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10750 0.00325581 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC112 Ser144Asn S144N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CCDC112 Ser227Asn S227N not reviewed Insufficiently evaluated not reviewed unknown Array rs34056787 222 10756 0.0206396 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC114 Ser639Asn S639N not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC114 Ser638Leu S638L not reviewed Insufficiently evaluated not reviewed unknown Array rs74925056 561 10758 0.0521472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC114 Ala507Thr A507T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CCDC114 Ala499Ser A499S not reviewed Insufficiently evaluated not reviewed unknown Array 1682 10656 0.157845 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCDC114 Pro468Leu P468L not reviewed Insufficiently evaluated not reviewed unknown Array rs35461177 2462 10758 0.228853 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 1 N - - CCDC114 Arg368Gln R368Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CCDC114 Gly249Arg G249R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC116 Arg96Cys R96C not reviewed Insufficiently evaluated not reviewed unknown Array rs861854 1730 10758 0.160811 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.075 - - 8 Y 0 N - - CCDC116 Gly121Arg G121R not reviewed Insufficiently evaluated not reviewed unknown Array rs371513 1744 10758 0.162112 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - CCDC116 Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array rs861853 2084 10756 0.193752 11 0 16 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - CCDC116 Arg199Trp R199W not reviewed Insufficiently evaluated not reviewed unknown Array rs12170285 779 10744 0.0725056 11 0 12 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 - 2 - - CCDC116 Ser219Cys S219C not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - CCDC116 Glu264Lys E264K not reviewed Insufficiently evaluated not reviewed unknown Array rs35113423 155 10758 0.0144079 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CCDC116 Pro293Leu P293L not reviewed Insufficiently evaluated not reviewed unknown Array rs41279987 235 10758 0.0218442 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.735 - - 7 Y 1 N - - CCDC116 Arg325Cys R325C not reviewed Insufficiently evaluated not reviewed unknown Array rs730882 711 10756 0.0661026 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.805 - - 8 Y 0 N - - CCDC116 Ala436Thr A436T not reviewed Insufficiently evaluated not reviewed unknown Array rs11705259 157 10758 0.0145938 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 1 - 2 - - CCDC116 Cys519Arg C519R not reviewed Insufficiently evaluated not reviewed unknown Array rs861852 3510 10758 0.326269 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CCDC116 Ala535Thr A535T not reviewed Insufficiently evaluated not reviewed unknown Array rs11705317 335 10756 0.0311454 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC117 Thr232Ile T232I not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - CCDC12 Val111Ile V111I not reviewed Insufficiently evaluated not reviewed unknown Array 342 10758 0.0317903 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC121 Arg15Leu R15L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - 6 Y 1 N - - CCDC121 Arg177Leu R177L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC121 Arg179Leu R179L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC122 Ile269Thr I269T not reviewed Insufficiently evaluated not reviewed unknown Array 337 9612 0.0350603 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - CCDC123 His779Leu H779L not reviewed Insufficiently evaluated not reviewed unknown Array rs745960 2934 10758 0.272727 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC123 Arg691Trp R691W not reviewed Insufficiently evaluated not reviewed unknown Array rs34626245 649 10756 0.0603384 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - CCDC123 Val398Ala V398A not reviewed Insufficiently evaluated not reviewed unknown Array rs4805825 2195 10756 0.204072 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 1 N - - CCDC123 Arg194Trp R194W not reviewed Insufficiently evaluated not reviewed unknown Array rs3764633 2151 10758 0.199944 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 0 N - - CCDC123 Ser153Gly S153G not reviewed Insufficiently evaluated not reviewed unknown Array rs73579706 4900 10758 0.455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC123 Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array 2887 10758 0.268358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - CCDC123 Asp142Ala D142A not reviewed Insufficiently evaluated not reviewed unknown Array 2755 10758 0.256088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 5 Y 0 N - - CCDC123 Arg102Gln R102Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73926195 587 10758 0.054564 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - CCDC125 Arg97Stop R97X not reviewed Insufficiently evaluated not reviewed unknown Array rs10471773 163 10758 0.0151515 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC125 Val13Met V13M not reviewed Insufficiently evaluated not reviewed unknown Array rs10471774 3640 10758 0.338353 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.134 - - 0 - 0 N - - CCDC127 Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - CCDC127 Asn171Ser N171S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CCDC127 Arg60His R60H not reviewed Insufficiently evaluated not reviewed unknown Array rs11557427 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 2 - - CCDC129 Ala32Asp A32D not reviewed Insufficiently evaluated not reviewed unknown Array rs7811042 6400 10758 0.594906 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC129 His377Arg H377R not reviewed Insufficiently evaluated not reviewed unknown Array rs10252720 9626 10040 0.958765 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC129 Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array rs4141001 7658 10758 0.711842 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC129 Ala549Pro A549P not reviewed Insufficiently evaluated not reviewed unknown Array rs73686905 419 10758 0.0389478 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC129 Cys809Tyr C809Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10247620 8101 10758 0.753021 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC129 His887Tyr H887Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7799540 539 10758 0.0501022 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCDC129 Asp988Asn D988N not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC13 Lys641Asn K641N not reviewed Insufficiently evaluated not reviewed unknown Array rs73829276 162 10758 0.0150586 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 1 N - - CCDC13 Ser547Thr S547T not reviewed Insufficiently evaluated not reviewed unknown Array rs12495805 2179 10758 0.202547 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC13 Ser474Gly S474G not reviewed Insufficiently evaluated not reviewed unknown Array rs9814373 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 1 - 1 - - CCDC13 Thr293Pro T293P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - CCDC13 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC13 Ala216Ser A216S not reviewed Insufficiently evaluated not reviewed unknown Array rs73829283 366 10758 0.0340212 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CCDC13 Arg25Trp R25W not reviewed Insufficiently evaluated not reviewed unknown Array rs17238798 2120 10758 0.197063 14 0 17 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - CCDC130 Ser22Cys S22C not reviewed Insufficiently evaluated not reviewed unknown Array rs12974461 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 3 - 2 - - CCDC130 Met124Val M124V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - CCDC130 Cys336Ser C336S not reviewed Insufficiently evaluated not reviewed unknown Array rs35761244 541 10712 0.0505041 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.823 - - 3 - 1 - 1 - - CCDC134 Thr193Ala T193A not reviewed Insufficiently evaluated not reviewed unknown Array rs61109016 168 10758 0.0156163 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - CCDC135 Asp51Asn D51N not reviewed Insufficiently evaluated not reviewed unknown Array rs55645458 386 10758 0.0358803 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.927 - - -1 - 2 N - - CCDC135 Cys186Ser C186S not reviewed Insufficiently evaluated not reviewed unknown Array rs7196016 2825 10758 0.262595 27 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC135 Val241Glu V241E not reviewed Insufficiently evaluated not reviewed unknown Array rs58373934 1200 10758 0.111545 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CCDC135 Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array rs3809611 2541 10758 0.236196 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC135 Asn581Lys N581K not reviewed Insufficiently evaluated not reviewed unknown Array rs2923144 1275 10754 0.118561 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 1 N - - CCDC135 Leu678Arg L678R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CCDC135 Cys766Arg C766R not reviewed Insufficiently evaluated not reviewed unknown Array rs2923147 3787 10746 0.35241 32 0 47 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CCDC136 Asp218His D218H not reviewed Insufficiently evaluated not reviewed unknown Array rs3816887 66 9792 0.0067402 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC136 Gly980Arg G980R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730174 63 9676 0.00651095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC136 Gln1049Glu Q1049E not reviewed Insufficiently evaluated not reviewed unknown Array rs4728137 10088 10150 0.993892 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC137 Lys50Asn K50N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742303 1702 9662 0.176154 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 1 N - - CCDC137 His127Gln H127Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7226091 2530 9958 0.254067 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - CCDC137 Arg177Trp R177W not reviewed Insufficiently evaluated not reviewed unknown Array rs11150805 1717 9992 0.171837 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 1 N - - CCDC137 Pro212Leu P212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC137 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11546630 806 10248 0.0786495 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - CCDC137 Gly274Arg G274R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742298 195 10090 0.0193261 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.38 - - 6 Y 1 N - - CCDC137 Arg282Trp R282W not reviewed Insufficiently evaluated not reviewed unknown Array rs11546631 758 10088 0.0751388 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 1 N - - CCDC138 Cys89Arg C89R not reviewed Insufficiently evaluated not reviewed unknown Array rs73952515 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 2 N - - CCDC138 Arg115Lys R115K not reviewed Insufficiently evaluated not reviewed unknown Array rs6740879 2890 10738 0.269138 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CCDC138 Arg312Thr R312T not reviewed Insufficiently evaluated not reviewed unknown Array rs58170568 68 10756 0.00632205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - CCDC14 Thr324Pro T324P not reviewed Insufficiently evaluated not reviewed unknown Array rs17310144 5064 10758 0.470719 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC14 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 1 3222 0.000310366 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - CCDC140 Gln25Arg Q25R not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC141 Pro834Ser P834S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CCDC141 Asn595Ser N595S not reviewed Insufficiently evaluated not reviewed unknown Array rs13419085 289 10758 0.0268637 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 1 - - CCDC141 Arg360Trp R360W not reviewed Insufficiently evaluated not reviewed unknown Array rs17362588 747 10750 0.0694884 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - CCDC141 Arg253Trp R253W not reviewed Insufficiently evaluated not reviewed unknown Array rs12988301 1130 10758 0.105038 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 0 N - - CCDC142 Leu121Ile L121I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - CCDC144NL His202Gln H202Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC144NL Cys193Tyr C193Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73298040 157 10758 0.0145938 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC144NL Thr160Pro T160P not reviewed Insufficiently evaluated not reviewed unknown Array 725 10520 0.0689164 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC144NL Thr155Met T155M not reviewed Insufficiently evaluated not reviewed unknown Array 419 10414 0.0402343 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC144NL Leu72Pro L72P not reviewed Insufficiently evaluated not reviewed unknown Array rs2279263 4877 10746 0.453843 39 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC146 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array 283 10752 0.0263207 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 0 - 2 N - - CCDC146 Glu263Gln E263Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17853516 890 10758 0.0827291 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - CCDC146 Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array rs1109968 673 10758 0.0625581 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CCDC146 Ile466Thr I466T not reviewed Insufficiently evaluated not reviewed unknown Array rs58545343 335 10758 0.0311396 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC146 Glu621Gly E621G not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - CCDC146 Asn815Thr N815T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CCDC147 Ser496Thr S496T not reviewed Insufficiently evaluated not reviewed unknown Array rs11192036 2469 10750 0.229674 29 0 32 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - CCDC148 Arg488Gln R488Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73966273 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - CCDC148 Lys329Arg K329R not reviewed Insufficiently evaluated not reviewed unknown Array rs7559772 10184 10758 0.946644 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CCDC148 Met157Val M157V not reviewed Insufficiently evaluated not reviewed unknown Array rs12620556 2008 10758 0.186652 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CCDC148 Gln75Arg Q75R not reviewed Insufficiently evaluated not reviewed unknown Array rs4664950 168 10758 0.0156163 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 1 - 2 - - CCDC148 Gln75Pro Q75P not reviewed Insufficiently evaluated not reviewed unknown Array rs4664950 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 3 - 2 - - CCDC15 Asp425Val D425V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 8 Y 2 N - - CCDC15 Pro488His P488H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - CCDC15 Gly529Asp G529D not reviewed Insufficiently evaluated not reviewed unknown Array rs4936966 2599 9482 0.274098 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC15 Cys813Arg C813R not reviewed Insufficiently evaluated not reviewed unknown Array rs7107487 1988 9444 0.210504 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CCDC150 Glu156Lys E156K not reviewed Insufficiently evaluated not reviewed unknown Array rs34133636 849 9956 0.0852752 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - CCDC150 Cys358Tyr C358Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28723611 677 9788 0.0691663 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CCDC150 Thr952Ala T952A not reviewed Insufficiently evaluated not reviewed unknown Array 2 9696 0.00020627 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CCDC151 Phe557Cys F557C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - CCDC153 Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array rs2301574 2731 10758 0.253858 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CCDC154 Leu647Pro L647P not reviewed Insufficiently evaluated not reviewed unknown Array rs7192331 3049 3234 0.942795 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC154 Arg629Cys R629C not reviewed Insufficiently evaluated not reviewed unknown Array 275 3234 0.085034 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CCDC154 Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array rs35583599 317 3234 0.098021 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC154 Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array 53 2586 0.020495 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC154 Thr55Ile T55I not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC155 Arg129Gln R129Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10405154 5281 9790 0.539428 42 0 61 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CCDC157 Asp51Asn D51N not reviewed Insufficiently evaluated not reviewed unknown Array 2358 10758 0.219186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - -1 - 0 N - - CCDC157 His134Pro H134P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.634 - - 5 Y 1 N - - CCDC157 Gln135His Q135H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - CCDC157 Ser587Ala S587A not reviewed Insufficiently evaluated not reviewed unknown Array rs2015035 10371 10758 0.964027 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCDC157 Arg675Gln R675Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - CCDC158 Glu482Lys E482K not reviewed Insufficiently evaluated not reviewed unknown Array rs17001824 205 9764 0.0209955 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - CCDC158 Arg419Gln R419Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10304 0.00359084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - CCDC158 Ile297Val I297V not reviewed Insufficiently evaluated not reviewed unknown Array rs17001885 242 9644 0.0250933 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC158 Asp89Tyr D89Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - CCDC158 Ser27Asn S27N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - CCDC158 Trp6Cys W6C not reviewed Insufficiently evaluated not reviewed unknown Array rs28580836 270 9436 0.0286138 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC17 Ser548Asn S548N not reviewed Insufficiently evaluated not reviewed unknown Array rs3014246 7756 10756 0.721086 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC17 Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array rs3014242 7740 10758 0.719465 36 0 54 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 1 N - - CCDC17 Gly82Glu G82E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - CCDC18 Leu23Ile L23I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC18 Leu111Phe L111F not reviewed Insufficiently evaluated not reviewed unknown Array rs10874763 2162 10114 0.213763 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC18 Leu111Val L111V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CCDC18 Asn444Thr N444T not reviewed Insufficiently evaluated not reviewed unknown Array rs2815413 6645 9508 0.698885 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC18 Glu561Asp E561D not reviewed Insufficiently evaluated not reviewed unknown Array 193 9598 0.0201084 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC18 Leu1199Val L1199V not reviewed Insufficiently evaluated not reviewed unknown Array rs12030843 1628 9480 0.17173 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC18 Arg1226Ser R1226S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729705 875 9540 0.0917191 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC19 Glu291Gly E291G not reviewed Insufficiently evaluated not reviewed unknown Array rs16842789 1222 10758 0.11359 11 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC19 Asp222Gly D222G not reviewed Insufficiently evaluated not reviewed unknown Array rs35975416 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC19 Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array rs41264831 492 10758 0.0457334 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC21 Ser213Asn S213N not reviewed Insufficiently evaluated not reviewed unknown Array rs3795686 2523 10758 0.234523 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC21 Ala542Thr A542T not reviewed Insufficiently evaluated not reviewed unknown Array rs7550997 1777 10758 0.165179 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC24 Ala305Val A305V not reviewed Insufficiently evaluated not reviewed unknown Array rs2301983 355 10730 0.0330848 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - CCDC27 Arg43Cys R43C not reviewed Insufficiently evaluated not reviewed unknown Array rs41315312 670 10758 0.0622792 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CCDC27 Gln54Glu Q54E not reviewed Insufficiently evaluated not reviewed unknown Array rs10910021 4026 10758 0.374233 34 0 41 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC27 Leu223Arg L223R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC27 Met267Thr M267T not reviewed Insufficiently evaluated not reviewed unknown Array rs1181883 5020 10758 0.466629 38 0 53 0 0 - - - - - - - - - - - - - - - - 0.031 - - 2 - 0 N - - CCDC27 Thr353Met T353M not reviewed Insufficiently evaluated not reviewed unknown Array rs10910024 2120 10676 0.198576 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 1 N - - CCDC27 Pro390Leu P390L not reviewed Insufficiently evaluated not reviewed unknown Array rs11806371 854 10754 0.0794123 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 1 N - - CCDC27 Thr462Met T462M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - CCDC27 Trp550Arg W550R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275839 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.934 - - 7 Y 2 N - - CCDC28A Pro82Leu P82L not reviewed Insufficiently evaluated not reviewed unknown Array rs2273510 644 10758 0.0598624 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.924 - - 7 Y 1 N - - CCDC28A Thr237Pro T237P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - CCDC28B Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CCDC29 Phe14Val F14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC29 Asp15Gly D15G not reviewed Insufficiently evaluated not reviewed unknown Array 9 594 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC3 His61Tyr H61Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC33 Gly175Cys G175C not reviewed Insufficiently evaluated not reviewed unknown Array rs56107695 750 9908 0.0756964 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC33 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 300 10006 0.029982 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC33 Met25Val M25V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC33 Met432Val M432V not reviewed Insufficiently evaluated not reviewed unknown Array rs2277603 748 10168 0.0735641 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC33 Arg30Leu R30L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC33 Arg437Leu R437L not reviewed Insufficiently evaluated not reviewed unknown Array rs2277604 289 10116 0.0285686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC33 Ser480Asn S480N not reviewed Insufficiently evaluated not reviewed unknown Array rs1564782 5824 10216 0.570086 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC33 Ser73Asn S73N not reviewed Insufficiently evaluated not reviewed unknown Array rs1564782 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC33 Gly196Arg G196R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC33 Gly603Arg G603R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744270 185 10138 0.0182482 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC33 Val364Leu V364L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC34 Asn298Ser N298S not reviewed Insufficiently evaluated not reviewed unknown Array 461 10758 0.0428518 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 2 N - - CCDC34 Glu264Ala E264A not reviewed Insufficiently evaluated not reviewed unknown Array rs17244028 2919 10758 0.271333 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.966 - - 3 - 1 N - - CCDC34 Gln116Lys Q116K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.161 - - -2 - 0 N - - CCDC34 Asp91Glu D91E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC34 Val90Gly V90G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC34 Pro53Ser P53S not reviewed Insufficiently evaluated not reviewed unknown Array 549 10758 0.0510318 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 0 N - - CCDC36 Asp440Glu D440E not reviewed Insufficiently evaluated not reviewed unknown Array rs13068038 1061 10758 0.0986243 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC37 Pro5Gln P5Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC37 Gln68Lys Q68K not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - CCDC37 Arg337Gln R337Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59283185 59 10754 0.00548633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.553 - - 0 - 1 N - - CCDC38 Lys554Glu K554E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CCDC38 Thr553Ser T553S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - CCDC38 Met227Val M227V not reviewed Insufficiently evaluated not reviewed unknown Array rs10859974 2211 10752 0.205636 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC38 Lys59Glu K59E not reviewed Insufficiently evaluated not reviewed unknown Array rs61739972 268 10756 0.0249163 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - CCDC38 Val36Phe V36F not reviewed Insufficiently evaluated not reviewed unknown Array rs12368787 1085 10756 0.100874 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC39 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733578 109 9492 0.0114834 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 1 - 1 - - CCDC39 Leu158Val L158V not reviewed Insufficiently evaluated not reviewed unknown Array rs57838737 372 9596 0.0387662 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - CCDC40 Val231Gly V231G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC40 Arg370His R370H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10418 0.000479938 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CCDC40 Ser489Ile S489I not reviewed Insufficiently evaluated not reviewed unknown Array rs61739354 158 10440 0.0151341 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - CCDC40 Glu511Lys E511K not reviewed Insufficiently evaluated not reviewed unknown Array rs59978698 83 10446 0.00794563 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CCDC40 Ala630Val A630V not reviewed Insufficiently evaluated not reviewed unknown Array rs61749058 5 108 0.0462963 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.078 - - 2 - 0 N - - CCDC40 Val775Met V775M not reviewed Insufficiently evaluated not reviewed unknown Array rs60684213 1228 10336 0.118808 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CCDC40 Gly929Ser G929S not reviewed Insufficiently evaluated not reviewed unknown Array rs59896146 22 9952 0.00221061 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - CCDC40 Arg967Leu R967L not reviewed Insufficiently evaluated not reviewed unknown Array rs61686936 326 10586 0.0307954 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.649 - - 6 Y 1 N - - CCDC41 Pro639Thr P639T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC41 Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array 484 9442 0.0512603 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC41 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2271979 512 9536 0.0536913 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC42 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array rs2288156 319 10758 0.0296524 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CCDC42 Arg75Cys R75C not reviewed Insufficiently evaluated not reviewed unknown Array rs9893451 838 10758 0.0778955 6 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - CCDC44 Gly145Ser G145S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - CCDC46 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC46 Arg845Trp R845W not reviewed Insufficiently evaluated not reviewed unknown Array rs61742269 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CCDC46 Ile21Val I21V not reviewed Insufficiently evaluated not reviewed unknown Array rs62065084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC46 Ile694Val I694V not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - CCDC46 Arg656Gln R656Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CCDC46 Lys551Glu K551E not reviewed Insufficiently evaluated not reviewed unknown Array rs17704679 5951 10404 0.571992 44 0 56 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - CCDC48 Thr6Ala T6A not reviewed Insufficiently evaluated not reviewed unknown Array 1673 2562 0.653005 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC48 Glu514Gly E514G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC48 Arg528Gln R528Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3732430 4319 10754 0.401618 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC48 Glu554Asp E554D not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC50 Ile258Asn I258N not reviewed Insufficiently evaluated not reviewed unknown Array rs2028574 5246 10758 0.487637 42 0 59 0 0 3 Y - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - CCDC50 Lys303Arg K303R not reviewed Insufficiently evaluated not reviewed unknown Array rs4677728 5238 10756 0.486984 42 0 59 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 1 N - - CCDC50 Met156Thr M156T not reviewed Insufficiently evaluated not reviewed unknown Array rs293813 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.658 Y - 2 - 2 N - - CCDC50 Met332Thr M332T not reviewed Insufficiently evaluated not reviewed unknown Array rs293813 6165 10758 0.573062 44 0 63 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - CCDC51 Ala344Thr A344T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9912 0.000403551 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC52 Asn843Lys N843K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC52 Thr824Pro T824P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC52 Arg472Gly R472G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - CCDC52 Lys335Asn K335N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC52 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC52 Leu275Val L275V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC54 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array rs709564 2877 10758 0.267429 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CCDC54 Ile213Thr I213T not reviewed Insufficiently evaluated not reviewed unknown Array rs34158098 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - CCDC55 Lys86Thr K86T not reviewed Insufficiently evaluated not reviewed unknown Array rs11544945 436 10752 0.0405506 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - CCDC55 Lys102Arg K102R not reviewed Insufficiently evaluated not reviewed unknown Array rs28564040 30 10620 0.00282486 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.576 - - -3 - 1 N - - CCDC57 Arg904Gly R904G not reviewed Insufficiently evaluated not reviewed unknown Array rs13949 5367 9736 0.551253 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC57 Met833Thr M833T not reviewed Insufficiently evaluated not reviewed unknown Array rs11077969 5809 10040 0.578586 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC57 Gln810Lys Q810K not reviewed Insufficiently evaluated not reviewed unknown Array rs7213172 5859 9898 0.591938 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC57 Ala777Thr A777T not reviewed Insufficiently evaluated not reviewed unknown Array rs7406162 5805 10296 0.563811 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC57 Asp776Asn D776N not reviewed Insufficiently evaluated not reviewed unknown Array rs7406163 5746 10324 0.556567 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCDC57 Arg774Gly R774G not reviewed Insufficiently evaluated not reviewed unknown Array rs4625783 5885 10348 0.568709 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC57 Val488Met V488M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC57 Val480Met V480M not reviewed Insufficiently evaluated not reviewed unknown Array rs7209474 4391 10538 0.416682 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC57 Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array 101 10234 0.00986906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC59 Asn40Thr N40T not reviewed Insufficiently evaluated not reviewed unknown Array 328 10758 0.0304889 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CCDC59 Gly26Arg G26R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737397 150 10758 0.0139431 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC6 Pro470Thr P470T not reviewed Insufficiently evaluated not reviewed unknown Array rs1053266 4528 10758 0.420896 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC6 Arg55Cys R55C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC60 Asp33Glu D33E not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CCDC60 Ile46Val I46V not reviewed Insufficiently evaluated not reviewed unknown Array rs1064319 3148 10758 0.292619 28 0 30 0 0 - - - - - - - - - - - - - - - - 0.708 - - -4 - 0 N - - CCDC60 Thr115Ala T115A not reviewed Insufficiently evaluated not reviewed unknown Array rs2519540 1228 10758 0.114148 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 1 N - - CCDC60 Arg131Cys R131C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CCDC60 Val393Ile V393I not reviewed Insufficiently evaluated not reviewed unknown Array rs16949292 218 10758 0.020264 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.054 - - -4 - 0 N - - CCDC60 Arg520Stop R520X not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC61 Gln408Arg Q408R not reviewed Insufficiently evaluated not reviewed unknown Array rs2287306 7468 9412 0.793455 17 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC62 Thr141Met T141M not reviewed Insufficiently evaluated not reviewed unknown Array rs58131754 390 10758 0.0362521 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - CCDC62 Thr646Met T646M not reviewed Insufficiently evaluated not reviewed unknown Array rs55716280 244 10758 0.0226808 4 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - CCDC63 Ile214Met I214M not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.855 - - -1 - 2 N - - CCDC63 His522Tyr H522Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73421366 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - CCDC64B Leu490Pro L490P not reviewed Insufficiently evaluated not reviewed unknown Array rs12448103 1140 8880 0.128378 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.838 - - 7 Y 0 N - - CCDC64B Gln273Arg Q273R not reviewed Insufficiently evaluated not reviewed unknown Array rs2244494 2229 9414 0.236775 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 1 N - - CCDC64B Glu58Lys E58K not reviewed Insufficiently evaluated not reviewed unknown Array 166 9810 0.0169215 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 1 N - - CCDC64B Gln55Glu Q55E not reviewed Insufficiently evaluated not reviewed unknown Array rs7204908 3266 9810 0.332926 17 0 23 0 0 - - - - - - - - - - - - - - - - 0.489 - - -2 - 0 N - - CCDC65 His133Arg H133R not reviewed Insufficiently evaluated not reviewed unknown Array rs10747556 3290 10758 0.305819 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC65 His169Asn H169N not reviewed Insufficiently evaluated not reviewed unknown Array 425 10758 0.0395055 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC65 Arg294Cys R294C not reviewed Insufficiently evaluated not reviewed unknown Array 426 10758 0.0395984 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC65 Tyr408Cys Y408C not reviewed Insufficiently evaluated not reviewed unknown Array rs4760600 3276 10758 0.304518 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC66 Gln349Arg Q349R not reviewed Insufficiently evaluated not reviewed unknown Array rs1491170 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC66 Gln383Arg Q383R not reviewed Insufficiently evaluated not reviewed unknown Array rs1491170 10279 10758 0.955475 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC66 Arg426Gln R426Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC66 Arg460Gln R460Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7637449 4323 10758 0.40184 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - CCDC66 Glu558Gln E558Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC66 Glu592Gln E592Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4681904 2310 10738 0.215124 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -2 - 0 N - - CCDC66 Glu558Lys E558K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC66 Glu592Lys E592K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CCDC66 Thr571Ser T571S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC66 Thr605Ser T605S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - CCDC66 Lys573Stop K573X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC66 Lys607Stop K607X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC66 Lys573Thr K573T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC66 Lys607Thr K607T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.529 - - 3 - 1 N - - CCDC66 Lys573Asn K573N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC66 Lys607Asn K607N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.305 - - 1 - 1 N - - CCDC66 Asn590Ser N590S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC66 Asn624Ser N624S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CCDC66 Glu801Val E801V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC66 Glu835Val E835V not reviewed Insufficiently evaluated not reviewed unknown Array 525 10758 0.0488009 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - CCDC66 Leu802Ser L802S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC66 Leu836Ser L836S not reviewed Insufficiently evaluated not reviewed unknown Array 524 10758 0.0487079 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CCDC66 Leu888Ile L888I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC66 Leu922Ile L922I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.85 - - -2 - 2 N - - CCDC67 Glu440Gln E440Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12288277 35 9550 0.00366492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC67 Glu440Gly E440G not reviewed Insufficiently evaluated not reviewed unknown Array rs12282288 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC67 Arg468Stop R468X not reviewed Insufficiently evaluated not reviewed unknown Array 63 9514 0.00662182 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC67 Gln504Lys Q504K not reviewed Insufficiently evaluated not reviewed unknown Array rs2259633 7459 9426 0.791322 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC69 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array rs17851409 204 10756 0.0189662 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - CCDC69 Glu203Gln E203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61741428 55 10758 0.00511247 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.783 - - -2 - 1 N - - CCDC69 Arg198Trp R198W not reviewed Insufficiently evaluated not reviewed unknown Array rs73796622 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC69 Arg197Lys R197K not reviewed Insufficiently evaluated not reviewed unknown Array rs248427 4877 10758 0.453337 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CCDC7 Lys148Gln K148Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56391924 677 10748 0.0629885 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.738 - - -2 - 0 N - - CCDC7 Glu283Asp E283D not reviewed Insufficiently evaluated not reviewed unknown Array rs73251552 544 10748 0.0506141 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.6 - - -2 - 0 N - - CCDC7 Lys449Thr K449T not reviewed Insufficiently evaluated not reviewed unknown Array rs12268559 921 10756 0.0856266 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.793 - - 3 - 0 N - - CCDC70 Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array rs17076052 735 10758 0.0683213 10 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - CCDC70 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array rs1054515 3449 10758 0.320599 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CCDC71 Trp339Arg W339R not reviewed Insufficiently evaluated not reviewed unknown Array rs4955418 6444 10756 0.599107 43 0 65 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC71 Lys334Arg K334R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC71 Gln317Leu Q317L not reviewed Insufficiently evaluated not reviewed unknown Array rs4955419 6104 10758 0.567392 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC74A Ser38Thr S38T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - -2 - 1 N - - CCDC74A Leu41His L41H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - CCDC74A Leu41Arg L41R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - CCDC74A Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC74A Met169Thr M169T not reviewed Insufficiently evaluated not reviewed unknown Array rs2599971 2282 10706 0.213151 16 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC74A Ser201Pro S201P not reviewed Insufficiently evaluated not reviewed unknown Array rs2599962 843 10092 0.0835315 15 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC74A Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CCDC74A Gly302Arg G302R not reviewed Insufficiently evaluated not reviewed unknown Array rs13660 1558 10758 0.144822 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.042 - - 6 Y 0 N - - CCDC74A Thr329Ile T329I not reviewed Insufficiently evaluated not reviewed unknown Array 91 10746 0.00846827 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - CCDC74B Arg346His R346H not reviewed Insufficiently evaluated not reviewed unknown Array rs1129127 3634 10752 0.337984 11 0 18 0 0 - - - - - - - - - - - - - - - - 0.184 - - 1 - 0 N - - CCDC74B Val309Ala V309A not reviewed Insufficiently evaluated not reviewed unknown Array rs2259332 1391 10684 0.130195 16 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC74B Pro201Ser P201S not reviewed Insufficiently evaluated not reviewed unknown Array rs2599962 35 10690 0.00327409 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CCDC74B His149Arg H149R not reviewed Insufficiently evaluated not reviewed unknown Array rs2599972 6154 10076 0.610758 24 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC76 Ala48Thr A48T not reviewed Insufficiently evaluated not reviewed unknown Array rs35216047 7646 10758 0.710727 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CCDC76 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array rs687513 7649 10758 0.711006 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC77 Ser25Arg S25R not reviewed Insufficiently evaluated not reviewed unknown Array rs4980895 1841 10758 0.171128 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - CCDC77 Met303Thr M303T not reviewed Insufficiently evaluated not reviewed unknown Array rs735295 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC77 Met335Thr M335T not reviewed Insufficiently evaluated not reviewed unknown Array rs735295 2966 10758 0.275702 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC78 Thr268Met T268M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10650 0.00347418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.75 - - 2 - 1 N - - CCDC78 Trp252Arg W252R not reviewed Insufficiently evaluated not reviewed unknown Array rs2071950 5732 10688 0.536302 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC79 Gln653Arg Q653R not reviewed Insufficiently evaluated not reviewed unknown Array rs363156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC8 Lys507Asn K507N not reviewed Insufficiently evaluated not reviewed unknown Array rs2279517 452 10758 0.0420152 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - CCDC8 His383Tyr H383Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34186470 1319 10758 0.122606 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CCDC8 Asp381Asn D381N not reviewed Insufficiently evaluated not reviewed unknown Array 419 10758 0.0389478 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.759 - - -1 - 1 N - - CCDC8 Ala349Pro A349P not reviewed Insufficiently evaluated not reviewed unknown Array rs28498765 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.588 - - 2 - 1 N - - CCDC8 Asp326Gly D326G not reviewed Insufficiently evaluated not reviewed unknown Array 232 10758 0.0215653 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 4 Y 2 N - - CCDC8 Asn318Lys N318K not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.773 - - 1 - 1 N - - CCDC8 Gly296Arg G296R not reviewed Insufficiently evaluated not reviewed unknown Array rs11880658 436 10758 0.040528 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CCDC80 Ala805Val A805V not reviewed Insufficiently evaluated not reviewed unknown Array rs56683778 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - CCDC80 Glu287Lys E287K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - CCDC81 Glu108Ala E108A not reviewed Insufficiently evaluated not reviewed unknown Array rs73517949 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC81 Glu198Ala E198A not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.324 - - 3 - 1 N - - CCDC81 Tyr359Cys Y359C not reviewed Insufficiently evaluated not reviewed unknown Array rs3741005 8 128 0.0625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC81 Tyr449Cys Y449C not reviewed Insufficiently evaluated not reviewed unknown Array 762 10758 0.070831 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - CCDC82 Gln327Arg Q327R not reviewed Insufficiently evaluated not reviewed unknown Array rs10831519 2244 10720 0.209328 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CCDC83 Thr49Ala T49A not reviewed Insufficiently evaluated not reviewed unknown Array rs12362209 381 10712 0.0355676 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 1 - 2 - - CCDC83 Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - CCDC83 Pro398Leu P398L not reviewed Insufficiently evaluated not reviewed unknown Array rs12805520 1033 10758 0.0960216 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC85A Pro20Ser P20S not reviewed Insufficiently evaluated not reviewed unknown Array rs35587531 3982 4686 0.849765 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC85A His224Leu H224L not reviewed Insufficiently evaluated not reviewed unknown Array rs60028731 568 10666 0.0532533 7 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - CCDC85A Arg321Trp R321W not reviewed Insufficiently evaluated not reviewed unknown Array 553 10162 0.0544184 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - CCDC85C Gly292Ala G292A not reviewed Insufficiently evaluated not reviewed unknown Array 186 3234 0.0575139 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC86 Gln153His Q153H not reviewed Insufficiently evaluated not reviewed unknown Array rs2074421 938 10724 0.0874674 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.966 - - -1 - 1 N - - CCDC87 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - CCDC88A Arg1195Gly R1195G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC88A Arg1196Gly R1196G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.446 - - 6 Y 1 N - - CCDC88A Lys1188Arg K1188R not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC88A Lys1189Arg K1189R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - -3 - 0 N - - CCDC88A Ser577Asn S577N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - CCDC88B Asp193Glu D193E not reviewed Insufficiently evaluated not reviewed unknown Array rs647152 3822 10740 0.355866 30 0 43 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC88B Glu250Lys E250K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - CCDC88B Pro551Leu P551L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.813 - - 7 Y 1 N - - CCDC88B Trp639Arg W639R not reviewed Insufficiently evaluated not reviewed unknown Array rs685870 6483 10754 0.602845 36 0 59 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC88B Asp886Ala D886A not reviewed Insufficiently evaluated not reviewed unknown Array rs1318165 10298 10752 0.957775 51 0 98 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CCDC88B Arg902Ser R902S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CCDC88B Asp1279Glu D1279E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.099 - - -2 - 0 N - - CCDC88C Leu1992Pro L1992P not reviewed Insufficiently evaluated not reviewed unknown Array rs941920 8803 9560 0.920816 41 0 75 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC88C Ser1800Phe S1800F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - CCDC88C Asp1459Asn D1459N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - CCDC88C Ala1028Val A1028V not reviewed Insufficiently evaluated not reviewed unknown Array rs1970911 1184 9778 0.121088 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC9 Glu215Asp E215D not reviewed Insufficiently evaluated not reviewed unknown Array rs2032811 5529 10002 0.552789 36 0 55 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC9 Ala456Val A456V not reviewed Insufficiently evaluated not reviewed unknown Array rs35119724 995 10758 0.0924893 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.235 - - 2 - 0 N - - CCDC9 Leu478Pro L478P not reviewed Insufficiently evaluated not reviewed unknown Array rs888836 4279 10758 0.39775 31 0 46 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - CCDC90A Thr216Ala T216A not reviewed Insufficiently evaluated not reviewed unknown Array rs3180196 1189 10754 0.110564 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - CCDC90A Ser108Gly S108G not reviewed Insufficiently evaluated not reviewed unknown Array rs1204145 2929 4544 0.644586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCDC90B Phe10Leu F10L not reviewed Insufficiently evaluated not reviewed unknown Array rs494791 7896 10756 0.734102 48 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC91 Ala36Thr A36T not reviewed Insufficiently evaluated not reviewed unknown Array rs11049488 2359 10756 0.219319 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC91 Met261Val M261V not reviewed Insufficiently evaluated not reviewed unknown Array rs1133028 1503 10736 0.139996 16 0 24 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CCDC91 Val314Met V314M not reviewed Insufficiently evaluated not reviewed unknown Array rs10771427 8429 10718 0.786434 49 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC91 Gln403Lys Q403K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731729 209 10758 0.0194274 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - CCDC92 Ser70Cys S70C not reviewed Insufficiently evaluated not reviewed unknown Array rs11057401 3420 10758 0.317903 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.937 - - 3 - 1 N - - CCDC93 Pro228Leu P228L not reviewed Insufficiently evaluated not reviewed unknown Array 627 10758 0.0582822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC93 Arg179Cys R179C not reviewed Insufficiently evaluated not reviewed unknown Array rs33975708 678 10758 0.0630229 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.628 - - 8 Y 0 N - - CCDC94 Pro240Ser P240S not reviewed Insufficiently evaluated not reviewed unknown Array rs59055495 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - CCDC96 Lys296Asn K296N not reviewed Insufficiently evaluated not reviewed unknown Array 172 10756 0.0159911 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - CCDC96 Glu96Lys E96K not reviewed Insufficiently evaluated not reviewed unknown Array rs871134 4073 6526 0.624119 21 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC96 Glu96Stop E96X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC97 Arg110Cys R110C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CCDC99 Tyr508His Y508H not reviewed Insufficiently evaluated not reviewed unknown Array rs3797713 7051 10758 0.655419 51 0 72 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCDC99 Leu586Ser L586S not reviewed Insufficiently evaluated not reviewed unknown Array rs3777084 7048 10758 0.65514 51 0 72 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCHCR1 Ser776Cys S776C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCHCR1 Ser829Cys S829C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCHCR1 Ser865Cys S865C not reviewed Insufficiently evaluated not reviewed unknown Array rs1576 3193 10758 0.296802 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCHCR1 Arg656Cys R656C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCHCR1 Arg709Cys R709C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCHCR1 Arg745Cys R745C not reviewed Insufficiently evaluated not reviewed unknown Array rs73397100 86 7522 0.0114331 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCHCR1 Lys648Met K648M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCHCR1 Lys701Met K701M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCHCR1 Lys737Met K737M not reviewed Insufficiently evaluated not reviewed unknown Array 6 7518 0.000798084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCHCR1 Gln639His Q639H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCHCR1 Gln692His Q692H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCHCR1 Gln728His Q728H not reviewed Insufficiently evaluated not reviewed unknown Array rs130074 496 7516 0.0659925 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCHCR1 Arg627Gln R627Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCHCR1 Arg680Gln R680Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCHCR1 Arg716Gln R716Q not reviewed Insufficiently evaluated not reviewed unknown Array rs130072 789 10758 0.0733408 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCHCR1 Gly575Cys G575C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Gly628Cys G628C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Gly664Cys G664C not reviewed Insufficiently evaluated not reviewed unknown Array rs130079 2381 10758 0.221324 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCHCR1 Leu551Gln L551Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Leu604Gln L604Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Leu640Gln L640Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Lys546Arg K546R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCHCR1 Lys599Arg K599R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCHCR1 Lys635Arg K635R not reviewed Insufficiently evaluated not reviewed unknown Array 240 10738 0.0223505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCHCR1 Arg417Trp R417W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg470Trp R470W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg506Trp R506W not reviewed Insufficiently evaluated not reviewed unknown Array rs130068 3328 7522 0.442436 29 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCHCR1 Glu352Val E352V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Glu405Val E405V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Glu441Val E441V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Glu275Asp E275D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCHCR1 Glu328Asp E328D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCHCR1 Glu364Asp E364D not reviewed Insufficiently evaluated not reviewed unknown Array rs130067 1469 7524 0.195242 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCHCR1 Ser164Arg S164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCHCR1 Ser217Arg S217R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCHCR1 Ser253Arg S253R not reviewed Insufficiently evaluated not reviewed unknown Array rs130066 3074 7518 0.408885 37 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCHCR1 Arg109Trp R109W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg162Trp R162W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg198Trp R198W not reviewed Insufficiently evaluated not reviewed unknown Array rs130076 1429 7510 0.19028 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCHCR1 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg156Trp R156W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg192Trp R192W not reviewed Insufficiently evaluated not reviewed unknown Array rs130065 1340 7504 0.178571 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCHCR1 Trp78Stop W78X not reviewed Insufficiently evaluated not reviewed unknown Array rs3130453 3669 7522 0.487769 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CCIN Ser75Asn S75N not reviewed Insufficiently evaluated not reviewed unknown Array rs34789048 1009 10758 0.0937907 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCIN Ile363Val I363V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - CCKAR His210Tyr H210Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41267457 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CCKAR Asn102Ser N102S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CCKAR Pro33Thr P33T not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 3 - 1 - - CCKBR Val125Ile V125I not reviewed Insufficiently evaluated not reviewed unknown Array rs1805002 597 10758 0.0554936 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.191 - - -4 - 0 N - - CCL11 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs1129844 1623 10758 0.150864 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCL11 Lys86Thr K86T not reviewed Insufficiently evaluated not reviewed unknown Array rs34262946 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 1 - 4 - - CCL14 Lys61Glu K61E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.67 - - 0 - 1 N - - CCL14 Lys77Glu K77E not reviewed Insufficiently evaluated not reviewed unknown Array rs16971802 857 10758 0.0796616 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCL15 Ile24Thr I24T not reviewed Insufficiently evaluated not reviewed unknown Array rs854625 8886 10758 0.82599 53 0 88 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CCL18 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array rs73290772 77 10758 0.00715746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.688 - - 1 - 1 N - - CCL18 Asn26Lys N26K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCL2 Thr16Pro T16P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 4 Y 2 - 1 - - CCL20 Asp58Glu D58E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCL20 Asp59Glu D59E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - CCL22 Asp2Ala D2A not reviewed Insufficiently evaluated not reviewed unknown Array rs4359426 10211 10758 0.949154 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCL23 Val106Met V106M not reviewed Insufficiently evaluated not reviewed unknown Array rs1003645 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCL23 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array rs1003645 6514 10758 0.605503 35 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCL23 Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCL23 Arg92His R92H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - CCL24 Gln110Glu Q110E not reviewed Insufficiently evaluated not reviewed unknown Array rs11465313 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - CCL24 Ser31Phe S31F not reviewed Insufficiently evaluated not reviewed unknown Array rs11465293 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.895 - - 5 Y 3 - 7 - - CCL24 Ile29Leu I29L not reviewed Insufficiently evaluated not reviewed unknown Array rs2302006 32 128 0.25 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - CCL25 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10384 0.000770416 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCL25 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 590 10368 0.0569059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCL25 His101Arg H101R not reviewed Insufficiently evaluated not reviewed unknown Array rs2032887 2482 10270 0.241675 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCL25 Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array rs1129763 1014 10260 0.0988304 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCL26 Leu18Arg L18R not reviewed Insufficiently evaluated not reviewed unknown Array rs11465334 92 10730 0.00857409 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 1 - 6 - - CCL28 Ala61Gly A61G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - 1 - 1 N - - CCL28 Ala61Ser A61S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.238 - - -1 - 1 N - - CCL28 Leu60Ser L60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - CCL4 Ser80Thr S80T not reviewed Insufficiently evaluated not reviewed unknown Array rs1049807 130 10758 0.012084 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCL8 Lys69Gln K69Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1133763 1412 10758 0.131251 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.963 - - -2 - 1 N - - CCM2 Val53Ile V53I not reviewed Insufficiently evaluated not reviewed unknown Array rs2107732 722 10758 0.0671128 4 0 3 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y -4 - 2 N - - CCM2 Val74Ile V74I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - CCM2 Val120Ile V120I not reviewed Insufficiently evaluated not reviewed unknown Array rs11552377 1455 10758 0.135248 12 0 11 0 0 3 Y - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - CCM2 Val141Ile V141I not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CCNA1 Gly158Cys G158C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCNA1 Gly201Cys G201C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCNA1 Gly202Cys G202C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - CCNA1 Val208Gly V208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CCNA1 Val251Gly V251G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCNA1 Val252Gly V252G not reviewed Insufficiently evaluated not reviewed unknown Array 1465 10758 0.136178 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 1 N - - CCNA2 Ile163Val I163V not reviewed Insufficiently evaluated not reviewed unknown Array rs769242 10427 10754 0.969593 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CCNA2 Lys112Glu K112E not reviewed Insufficiently evaluated not reviewed unknown Array rs34932724 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 1 N - - CCNB1 Gly161Glu G161E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - CCNB1 Leu394Val L394V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.139 - - 0 - 0 N - - CCNB1IP1 Gln128His Q128H not reviewed Insufficiently evaluated not reviewed unknown Array rs60821707 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 2 N - - CCND2 Val253Gly V253G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 8 Y 0 N - - CCND3 Ser178Ala S178A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051130 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCND3 Ser187Ala S187A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051130 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCND3 Ser259Ala S259A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051130 6721 10758 0.624744 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CCND3 Ser63Ala S63A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051130 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCNDBP1 Ile149Thr I149T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCNDBP1 Ile277Thr I277T not reviewed Insufficiently evaluated not reviewed unknown Array rs78193368 18 10758 0.00167317 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.88 - - 3 - 2 N - - CCNF Leu531Arg L531R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.467 - - 6 Y 1 N - - CCNG1 Phe179Leu F179L not reviewed Insufficiently evaluated not reviewed unknown Array rs11541970 275 10724 0.0256434 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CCNG2 Leu4Val L4V not reviewed Insufficiently evaluated not reviewed unknown Array rs4150050 248 10758 0.0230526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - 0 - 1 N - - CCNH Val270Ala V270A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230641 1863 10758 0.173173 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 1 N - - CCNH Lys138Arg K138R not reviewed Insufficiently evaluated not reviewed unknown Array rs2266691 275 10758 0.0255624 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.023 - - -3 - 1 - 7 - - CCNI2 Ala91Pro A91P not reviewed Insufficiently evaluated not reviewed unknown Array rs803056 819 4532 0.180715 19 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCNI2 Trp267Stop W267X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCNJL Val259Ile V259I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CCNJL His234Tyr H234Y not reviewed Insufficiently evaluated not reviewed unknown Array rs13362036 477 10226 0.0466458 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.472 - - -1 - 2 - 2 - - CCNJL Pro134Leu P134L not reviewed Insufficiently evaluated not reviewed unknown Array rs6898152 24 528 0.0454545 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCNJL Met108Thr M108T not reviewed Insufficiently evaluated not reviewed unknown Array rs6879976 66 796 0.0829146 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCNK Pro518Leu P518L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCNL1 Ala93Asp A93D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 5 Y 2 N - - CCNL2 Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNL2 Thr71Ser T71S not reviewed Insufficiently evaluated not reviewed unknown Array 267 10756 0.0248234 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - CCNO Met294Thr M294T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - CCNT2 Ile320Val I320V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCPG1 Tyr235Cys Y235C not reviewed Insufficiently evaluated not reviewed unknown Array 72 9768 0.00737101 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CCR1 Ser70Asn S70N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCR10 Arg326Trp R326W not reviewed Insufficiently evaluated not reviewed unknown Array rs61730696 316 10566 0.0299072 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 3 - 1 - - CCR2 Gly17Ser G17S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - CCR2 Val64Ile V64I protective Insufficiently evaluated protective unknown Array rs1799864 894 7820 0.114322 16 0 19 0 0 3 Y - - - - - - - - - - - Y - - 0.001 - - -4 - 2 N - - Associated with slower HIV disease progression. CCR5 Val131Phe V131F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 10 - - CCR7 Gly281Trp G281W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.658 - - 7 Y 1 N - - CCR8 Ala27Gly A27G not reviewed Insufficiently evaluated not reviewed unknown Array rs2853699 2683 10758 0.249396 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCR9 Pro102Ser P102S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 1 - - CCR9 Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCRK Cys32Phe C32F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCRL2 Arg5His R5H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CCRL2 Phe167Tyr F167Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3204849 2977 9808 0.303528 45 0 55 1 1 - - - - - - - - - - - - - - - - 0.955 - - -4 - 1 N - - this is a A/T variation in the CCRL2 gene CCRL2 Phe179Tyr F179Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCRL2 Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array rs3204850 603 9840 0.0612805 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.206 - - -4 - 0 N - - CCRL2 Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array rs3204850 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCRN4L His140Tyr H140Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2271777 285 10758 0.0264919 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCS Gly70Arg G70R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 3 - 10 - - CCT2 Val503Asp V503D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 8 Y 2 N - - CCT3 Leu353Phe L353F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCT3 Leu390Phe L390F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCT3 Leu391Phe L391F not reviewed Insufficiently evaluated not reviewed unknown Array rs2230195 17 10758 0.00158022 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - CCT3 Ile157Val I157V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCT3 Ile194Val I194V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCT3 Ile195Val I195V not reviewed Insufficiently evaluated not reviewed unknown Array rs11548200 427 10758 0.0396914 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.076 - - -4 - 0 N - - CCT6A Tyr184Cys Y184C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCT6A Tyr229Cys Y229C not reviewed Insufficiently evaluated not reviewed unknown Array rs33922584 371 10758 0.034486 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - CCT6B Gly247Ala G247A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230553 3240 10738 0.301732 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 1 N - - CCT6B Val48Ala V48A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230552 1945 10758 0.180796 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCT6B Arg17Gln R17Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9635769 5261 10758 0.489031 44 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCT7 Phe157Leu F157L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCT7 Phe361Leu F361L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.564 - - 0 - 1 N - - CCT7 Thr158Pro T158P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCT7 Thr362Pro T362P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - 4 Y 1 N - - CCT7 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCT7 Thr362Ile T362I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - 3 - 1 N - - CCT8 Val409Ile V409I not reviewed Insufficiently evaluated not reviewed unknown Array rs8129954 294 10758 0.0273285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CCT8 Ala391Ser A391S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.169 - - -1 - 0 N - - CCT8 Gly122Cys G122C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CCT8L1 Leu194Ile L194I not reviewed Insufficiently evaluated not reviewed unknown Array 5 78 0.0641026 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - CCT8L1 Glu201Gln E201Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61441782 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.251 - - -2 - 1 N - - CCT8L1 Ser395Gly S395G not reviewed Insufficiently evaluated not reviewed unknown Array rs6953943 62 128 0.484375 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CCT8L2 Trp320Arg W320R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236639 10058 10754 0.93528 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCT8L2 Gln284Stop Q284X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCT8L2 Asp266Glu D266E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD109 Gly45Val G45V not reviewed Insufficiently evaluated not reviewed unknown Array rs9446983 127 10758 0.0118052 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.254 - - 8 Y 2 - 3 - - CD109 Phe289Ser F289S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD109 Phe366Ser F366S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - CD109 Thr290Pro T290P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD109 Thr367Pro T367P not reviewed Insufficiently evaluated not reviewed unknown Array 57 10750 0.00530232 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 4 Y 2 N - - CD109 Gly300Asp G300D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD109 Gly377Asp G377D not reviewed Insufficiently evaluated not reviewed unknown Array rs7741152 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 4 Y 0 N - - CD109 Trp448Cys W448C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD109 Trp525Cys W525C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CD109 Leu564Phe L564F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CD109 Leu641Phe L641F not reviewed Insufficiently evaluated not reviewed unknown Array rs7742662 340 10758 0.0316044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 2 - - CD109 Tyr626Ser Y626S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD109 Tyr703Ser Y703S not reviewed Insufficiently evaluated not reviewed unknown Array rs10455097 6012 10758 0.55884 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CD109 Ile715Ser I715S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD109 Ile792Ser I792S not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.658 - - 5 Y 1 N - - CD109 Asn720Ser N720S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD109 Asn797Ser N797S not reviewed Insufficiently evaluated not reviewed unknown Array rs2351528 4237 10758 0.393846 38 0 49 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CD109 Val768Ile V768I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD109 Val845Ile V845I not reviewed Insufficiently evaluated not reviewed unknown Array rs5023688 4231 10758 0.393289 38 0 49 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - CD109 Thr1155Ile T1155I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD109 Thr1232Ile T1232I not reviewed Insufficiently evaluated not reviewed unknown Array rs61754903 282 10758 0.026213 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - CD109 Thr1164Met T1164M not reviewed Insufficiently evaluated not reviewed unknown Array rs2917862 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD109 Thr1224Met T1224M not reviewed Insufficiently evaluated not reviewed unknown Array rs2917862 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.422 - - 2 - 1 N - - CD109 Thr1241Met T1241M not reviewed Insufficiently evaluated not reviewed unknown Array rs2917862 4261 10756 0.396151 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - CD109 His1219Arg H1219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CD109 His1279Arg H1279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CD109 His1296Arg H1296R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - 1 - 1 - 3 - - CD160 Ile14Leu I14L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - -2 - 1 N - - CD163 Leu1135Ile L1135I not reviewed Insufficiently evaluated not reviewed unknown Array rs74056488 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - CD163 Pro909Ser P909S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CD163 Thr901Met T901M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729512 951 10758 0.0883993 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CD163 Ser570Asn S570N not reviewed Insufficiently evaluated not reviewed unknown Array rs61729510 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - CD163 Ile342Val I342V not reviewed Insufficiently evaluated not reviewed unknown Array rs4883263 9136 10758 0.849229 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CD163L1 Met1108Thr M1108T not reviewed Insufficiently evaluated not reviewed unknown Array rs35480970 1201 10758 0.111638 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD163L1 Gly582Ala G582A not reviewed Insufficiently evaluated not reviewed unknown Array rs4072796 995 10758 0.0924893 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD163L1 Asp578Asn D578N not reviewed Insufficiently evaluated not reviewed unknown Array rs4072797 1240 10758 0.115263 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CD163L1 Leu523Met L523M not reviewed Insufficiently evaluated not reviewed unknown Array rs6488268 10664 10758 0.991262 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CD164L2 Met76Val M76V not reviewed Insufficiently evaluated not reviewed unknown Array rs2504779 2663 10758 0.247537 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD164L2 Arg68Gly R68G not reviewed Insufficiently evaluated not reviewed unknown Array rs2474297 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 6 Y 0 N - - CD177 Ala3Pro A3P not reviewed Insufficiently evaluated not reviewed unknown Array rs45441892 3171 9768 0.324631 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD177 Val184Gly V184G not reviewed Insufficiently evaluated not reviewed unknown Array rs71337594 6428 6840 0.939766 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CD177 Asp204Asn D204N not reviewed Insufficiently evaluated not reviewed unknown Array rs12980412 5563 6010 0.925624 12 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CD177 Met205Arg M205R not reviewed Insufficiently evaluated not reviewed unknown Array rs12981771 5409 5846 0.925248 12 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CD177 Leu251Ile L251I not reviewed Insufficiently evaluated not reviewed unknown Array rs10425835 4334 10118 0.428346 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CD177 Ala261Gly A261G not reviewed Insufficiently evaluated not reviewed unknown Array 143 1340 0.106716 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - CD177 Ala267Thr A267T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD177 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD177 Gly431Arg G431R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD180 Phe648Leu F648L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230524 342 10758 0.0317903 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD180 Thr430Ala T430A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230523 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD180 Val356Met V356M not reviewed Insufficiently evaluated not reviewed unknown Array rs56752081 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CD180 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array rs1697144 10757 10758 0.999907 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CD180 Ser99Arg S99R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230520 171 10754 0.0159011 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD180 Asn53Lys N53K not reviewed Insufficiently evaluated not reviewed unknown Array rs16875312 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD180 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array rs5744463 829 10758 0.0770589 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD19 Leu174Val L174V not reviewed Insufficiently evaluated not reviewed unknown Array rs2904880 8265 10758 0.768265 54 0 93 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - CD19 Arg514His R514H benign Low clinical importance, Uncertain benign unknown Array rs34763945 519 10758 0.0482432 2 0 2 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.944 Y Y 1 - 5 - 1 0 0 Presumed benign. CD1A Thr30Ile T30I not reviewed Insufficiently evaluated not reviewed unknown Array rs2269714 600 10758 0.0557724 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD1A Cys68Trp C68W not reviewed Insufficiently evaluated not reviewed unknown Array rs2269715 600 10758 0.0557724 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CD1B Gly137Arg G137R not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - CD1B Gly104Ser G104S not reviewed Insufficiently evaluated not reviewed unknown Array rs62642468 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD1C Asn70Thr N70T not reviewed Insufficiently evaluated not reviewed unknown Array rs3138100 391 10758 0.036345 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD1E Gln106Arg Q106R not reviewed Insufficiently evaluated not reviewed unknown Array rs1065457 4784 9906 0.48294 43 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD1E Val175Ile V175I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD1E Val309Ile V309I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD1E Val364Ile V364I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD1E Val376Ile V376I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734680 430 9814 0.043815 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD2 His266Gln H266Q not reviewed Insufficiently evaluated not reviewed unknown Array rs699738 2510 10758 0.233315 33 0 41 0 0 - - - - - - - - - - - - - - - - 0.81 - - -1 - 0 N - - CD200 Ser11Cys S11C not reviewed Insufficiently evaluated not reviewed unknown Array rs1131199 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD200 Ser36Cys S36C not reviewed Insufficiently evaluated not reviewed unknown Array rs1131199 6622 10758 0.615542 49 0 69 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD200 Pro46Thr P46T not reviewed Insufficiently evaluated not reviewed unknown Array rs2272022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD200 Pro71Thr P71T not reviewed Insufficiently evaluated not reviewed unknown Array rs2272022 3082 10758 0.286484 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CD200R1 Glu312Gln E312Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9865242 6266 10756 0.582559 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CD200R1 Glu335Gln E335Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9865242 78 128 0.609375 51 0 67 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CD200R1 His177Gln H177Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9826308 6268 10758 0.582636 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CD200R1 His200Gln H200Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9826308 78 128 0.609375 51 0 67 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CD200R1 Thr121Pro T121P not reviewed Insufficiently evaluated not reviewed unknown Array rs4596117 3050 10758 0.28351 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CD200R1 Thr144Pro T144P not reviewed Insufficiently evaluated not reviewed unknown Array rs71625219 78 128 0.609375 52 0 52 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CD200R1 Lys112Arg K112R not reviewed Insufficiently evaluated not reviewed unknown Array rs2171509 76 126 0.603175 50 0 65 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CD200R1 Lys89Arg K89R not reviewed Insufficiently evaluated not reviewed unknown Array rs2171509 6261 10758 0.581985 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CD200R1 Glu41Lys E41K not reviewed Insufficiently evaluated not reviewed unknown Array rs57657464 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD200R1L Thr215Ile T215I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740125 299 10746 0.0278243 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD200R1L Arg113Leu R113L not reviewed Insufficiently evaluated not reviewed unknown Array rs4682119 3101 10758 0.288251 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CD207 Lys313Ile K313I not reviewed Insufficiently evaluated not reviewed unknown Array rs57302492 862 9894 0.0871235 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CD207 Asn288Asp N288D not reviewed Insufficiently evaluated not reviewed unknown Array rs13383830 859 9812 0.0875459 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.594 - - -1 - 0 N - - CD207 Val278Ala V278A not reviewed Insufficiently evaluated not reviewed unknown Array rs741326 4440 10204 0.435123 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD207 Gln136Glu Q136E not reviewed Insufficiently evaluated not reviewed unknown Array rs17718987 2302 9936 0.231683 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 0 N - - CD207 Glu114Val E114V not reviewed Insufficiently evaluated not reviewed unknown Array rs72836219 1043 10210 0.102155 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CD207 Ala55Val A55V not reviewed Insufficiently evaluated not reviewed unknown Array rs10489990 2964 10420 0.284453 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.374 - - 2 - 0 N - - CD209 Leu198Val L198V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD209 Leu218Val L218V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD209 Leu242Val L242V not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - CD22 Ala391Thr A391T not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 3 - 1 - - CD22 Gly745Asp G745D not reviewed Insufficiently evaluated not reviewed unknown Array rs10406069 1726 10758 0.160439 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - CD22 Asp791Tyr D791Y not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - CD226 Ser307Gly S307G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs763361 4852 10758 0.451013 34 0 48 0 0 3 Y - - - - - - - - - - - - Y Y - - - 2 - 2 N - - CD24 Ala57Val A57V not reviewed Insufficiently evaluated not reviewed unknown Array rs52812045 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD24 Thr44Ser T44S not reviewed Insufficiently evaluated not reviewed unknown Array rs10465460 16 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD248 Gly499Cys G499C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - CD248 His457Arg H457R not reviewed Insufficiently evaluated not reviewed unknown Array rs3741367 4065 10758 0.377858 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD248 Thr115Ala T115A not reviewed Insufficiently evaluated not reviewed unknown Array 87 10606 0.0082029 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - CD27 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array rs25680 2275 10758 0.211471 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - CD27 His233Arg H233R not reviewed Insufficiently evaluated not reviewed unknown Array rs2532502 10667 10758 0.991541 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD27 Arg238Lys R238K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - -3 - 0 N - - CD276 Pro97Leu P97L not reviewed Insufficiently evaluated not reviewed unknown Array rs7173448 2084 10758 0.193716 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.772 - - 7 Y 0 N - - CD276 Arg111Ser R111S not reviewed Insufficiently evaluated not reviewed unknown Array rs7173476 2088 10754 0.19416 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.592 - - 3 - 0 N - - CD276 Thr160Met T160M not reviewed Insufficiently evaluated not reviewed unknown Array rs11574479 2170 10758 0.20171 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.708 - - 2 - 0 N - - CD276 Arg267His R267H not reviewed Insufficiently evaluated not reviewed unknown Array rs11574483 1208 10756 0.112309 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD276 Ala279Thr A279T not reviewed Insufficiently evaluated not reviewed unknown Array rs10083681 2092 10758 0.19446 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.191 - - 1 - 0 N - - CD276 Lys144Glu K144E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - CD276 Lys362Glu K362E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CD2AP Asn581Lys N581K not reviewed Insufficiently evaluated not reviewed unknown Array rs34069459 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 1 - 1 N - - CD2BP2 Gly231Asp G231D not reviewed Insufficiently evaluated not reviewed unknown Array rs13330462 1106 10758 0.102807 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CD300A Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2272111 3783 10758 0.351645 24 0 38 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CD300C Thr71Ile T71I not reviewed Insufficiently evaluated not reviewed unknown Array rs11870245 1056 10758 0.0981595 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 1 N - - CD300C Arg64Stop R64X not reviewed Insufficiently evaluated not reviewed unknown Array rs59461308 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CD300E Arg168Gln R168Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73359250 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.223 - - 0 - 1 N - - CD300E Gly158Arg G158R not reviewed Insufficiently evaluated not reviewed unknown Array rs1878061 3383 10754 0.314581 32 0 35 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - CD300E Thr133Ala T133A not reviewed Insufficiently evaluated not reviewed unknown Array rs56380796 213 10758 0.0197992 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.257 - - 1 - 1 N - - CD300E Lys19Thr K19T not reviewed Insufficiently evaluated not reviewed unknown Array rs581157 5327 10758 0.495166 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD300LD Val89Met V89M not reviewed Insufficiently evaluated not reviewed unknown Array rs783239 2505 7820 0.320332 35 0 46 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CD300LD Ser6Ala S6A not reviewed Insufficiently evaluated not reviewed unknown Array rs493430 48 0 82 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - CD300LF Thr282Lys T282K not reviewed Insufficiently evaluated not reviewed unknown Array rs34303409 574 10758 0.0533556 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD300LF Gln218Arg Q218R not reviewed Insufficiently evaluated not reviewed unknown Array rs2034310 8157 10758 0.758226 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD300LF Pro139Leu P139L not reviewed Insufficiently evaluated not reviewed unknown Array rs34851642 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD300LF Val19Ala V19A not reviewed Insufficiently evaluated not reviewed unknown Array rs35489971 7122 10758 0.662019 40 0 62 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD300LG Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array rs72836561 250 10758 0.0232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - CD300LG Thr228Ala T228A not reviewed Insufficiently evaluated not reviewed unknown Array rs12453522 3122 10758 0.290203 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - CD302 Arg200Ser R200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD320 Gly220Arg G220R not reviewed Insufficiently evaluated not reviewed unknown Array rs2336573 1440 10758 0.133854 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 1 N - - CD320 Gln8Arg Q8R not reviewed Insufficiently evaluated not reviewed unknown Array rs2232775 1314 10322 0.127301 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD33 Ala14Val A14V not reviewed Insufficiently evaluated not reviewed unknown Array rs12459419 2481 10758 0.230619 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - CD33 Arg69Gly R69G not reviewed Insufficiently evaluated not reviewed unknown Array rs2455069 4866 10758 0.452315 38 0 51 0 0 - - - - - - - - - - - - - - - - 0.026 - - 6 Y 0 N - - CD33 Phe116Leu F116L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD33 Phe243Leu F243L not reviewed Insufficiently evaluated not reviewed unknown Array rs11882250 397 10758 0.0369028 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.505 - - 0 - 1 N - - CD33 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD33 Val267Ile V267I not reviewed Insufficiently evaluated not reviewed unknown Array rs58981829 429 10758 0.0398773 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.33 - - -4 - 1 N - - CD33 Gly177Arg G177R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD33 Gly304Arg G304R not reviewed Insufficiently evaluated not reviewed unknown Array rs35112940 1602 10758 0.148912 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 0 N - - CD33 Ser178Pro S178P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - CD33 Ser305Pro S305P not reviewed Insufficiently evaluated not reviewed unknown Array rs61736475 1231 10758 0.114426 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD34 Gly365Cys G365C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - CD36 Tyr325Stop Y325X not reviewed Insufficiently evaluated not reviewed unknown Array rs3211938 299 10758 0.0277933 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 4 - 1 - - CD3EAP Lys259Thr K259T not reviewed Insufficiently evaluated not reviewed unknown Array rs735482 1928 10758 0.179215 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD3EAP Thr282Ala T282A not reviewed Insufficiently evaluated not reviewed unknown Array rs3212989 250 10758 0.0232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 1 - 3 - 4 - - CD3EAP Lys373Glu K373E not reviewed Insufficiently evaluated not reviewed unknown Array rs762562 1901 10756 0.176739 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD3EAP Asp394Asn D394N not reviewed Insufficiently evaluated not reviewed unknown Array rs2336219 1830 10722 0.170677 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CD3EAP Gln504Lys Q504K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3212986 2770 10698 0.258927 29 0 34 2 2 - - - - - - - - - - - - - - - Y 0.002 - - -2 - 1 N - - CD3G Val131Phe V131F not reviewed Insufficiently evaluated not reviewed unknown Array rs71469175 75 10758 0.00697156 29 0 27 0 0 - - - - - - - - - - - - Y - - - 0.773 Y - 3 - 3 - 2 - - CD4 Arg265Trp R265W not reviewed Insufficiently evaluated not reviewed unknown Array rs28919570 767 10758 0.0712958 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - CD40 Ser124Leu S124L not reviewed Insufficiently evaluated not reviewed unknown Array rs11569321 473 10758 0.0439673 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - CD40 Arg182Trp R182W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 3 - 1 - - CD44 Lys374Arg K374R not reviewed Insufficiently evaluated not reviewed unknown Array rs9666607 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD44 Lys417Arg K417R not reviewed Insufficiently evaluated not reviewed unknown Array rs9666607 8109 10758 0.753765 54 0 92 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CD44 Thr390Asn T390N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD44 Thr433Asn T433N not reviewed Insufficiently evaluated not reviewed unknown Array rs35963728 15 10758 0.00139431 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD44 Met418Thr M418T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD44 Met461Thr M461T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD44 Ile230Thr I230T not reviewed Insufficiently evaluated not reviewed unknown Array rs1467558 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD44 Ile436Thr I436T not reviewed Insufficiently evaluated not reviewed unknown Array rs1467558 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD44 Ile479Thr I479T not reviewed Insufficiently evaluated not reviewed unknown Array rs1467558 9284 10758 0.862986 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CD46 Ala309Val A309V pathogenic Insufficiently evaluated pathogenic other Array 0 0 0 2 2 1 Y 1 - 0 Y 0 Y 4 Y 4 Y Y - - - - Y Y 2 - Atypical Hemolytic-Uremic Syndrome 1 156 0 200 INF 4 - 2 - - This variant (also called A304V in the literature) and is associated with Non-Shiga toxin-associated hemolytic uremic syndrome in a dominant manner. Other variants in this gene cause the disease and this variant was identified in 7 patients with related phenotypes, but there is not enough data to determine significance. According to the GeneReviews entry, penetrance is 54%, and expression usually occurs before adulthood. CD46 Ala323Val A323V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - CD46 Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - CD46 Ala338Val A338V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - CD46 Ala339Val A339V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CD46 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array 130 10756 0.0120863 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 3 - - CD48 Glu102Gln E102Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2295615 1420 10758 0.131995 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.982 - - -2 - 1 N - - CD5 Leu12Val L12V not reviewed Insufficiently evaluated not reviewed unknown Array rs73484395 224 10748 0.0208411 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD5 Pro224Leu P224L not reviewed Insufficiently evaluated not reviewed unknown Array rs2241002 2233 10758 0.207566 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CD5 His461Arg H461R not reviewed Insufficiently evaluated not reviewed unknown Array rs637186 10076 10758 0.936605 43 0 83 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD5 Ala471Val A471V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229177 5532 10758 0.514222 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD52 Thr10Asn T10N not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - CD52 Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array rs1071849 7852 10758 0.729875 46 0 68 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 0 N - - CD52 Ile41Met I41M not reviewed Insufficiently evaluated not reviewed unknown Array rs17645 7852 10758 0.729875 46 0 68 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CD55 Ala227Pro A227P not reviewed Insufficiently evaluated not reviewed unknown Array rs60822373 71 10758 0.00659974 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - CD59 Cys38Stop C38X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - CD5L Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - CD5L Asp117Glu D117E not reviewed Insufficiently evaluated not reviewed unknown Array rs11537583 577 10758 0.0536345 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CD6 Thr217Met T217M not reviewed Insufficiently evaluated not reviewed unknown Array rs11230562 1894 10730 0.176514 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 1 N - - CD6 Arg225Trp R225W not reviewed Insufficiently evaluated not reviewed unknown Array rs11230563 4367 10744 0.406459 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.024 - - 7 Y 0 N - - CD6 Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074225 5924 10728 0.5522 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD6 Ala271Thr A271T not reviewed Insufficiently evaluated not reviewed unknown Array rs12360861 1503 10758 0.13971 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CD6 Ala431Asp A431D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - CD6 Gly606Ser G606S not reviewed Insufficiently evaluated not reviewed unknown Array rs2074233 1941 10734 0.180827 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CD6 Ser649Tyr S649Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 1 N - - CD68 Gln227Lys Q227K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD68 Gln254Lys Q254K not reviewed Insufficiently evaluated not reviewed unknown Array rs9901673 1868 10758 0.173638 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.939 - - -2 - 1 N - - CD68 Ala323Thr A323T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD68 Ala350Thr A350T not reviewed Insufficiently evaluated not reviewed unknown Array rs9901675 600 10758 0.0557724 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD7 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD7 Ala201Val A201V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10496 0.000476371 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - CD72 Pro234Leu P234L not reviewed Insufficiently evaluated not reviewed unknown Array rs34791102 850 10758 0.079011 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - CD72 Val50Leu V50L not reviewed Insufficiently evaluated not reviewed unknown Array rs35185125 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 0 - 2 - 3 - - CD82 Ile216Val I216V not reviewed Insufficiently evaluated not reviewed unknown Array rs1139971 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD82 Ile241Val I241V not reviewed Insufficiently evaluated not reviewed unknown Array rs1139971 6291 10758 0.584774 44 0 61 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - CD83 Asn86Ser N86S not reviewed Insufficiently evaluated not reviewed unknown Array rs35118414 497 10758 0.0461982 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD86 Val179Ile V179I not reviewed Insufficiently evaluated not reviewed unknown Array rs2681417 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD86 Val185Ile V185I not reviewed Insufficiently evaluated not reviewed unknown Array rs2681417 9094 10758 0.845324 50 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CD86 Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array rs1129055 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD86 Ala310Thr A310T not reviewed Insufficiently evaluated not reviewed unknown Array rs1129055 2511 10758 0.233408 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD8A Leu100Phe L100F not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CD8B Ile183Val I183V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD8B Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array rs35555413 10 128 0.078125 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CD8B Met230Ile M230I not reviewed Insufficiently evaluated not reviewed unknown Array 7443 10638 0.699662 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CD8B Val180Ile V180I not reviewed Insufficiently evaluated not reviewed unknown Array 1799 10680 0.168446 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CD8B Arg94Pro R94P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD8B Val92Ala V92A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD93 Met640Val M640V not reviewed Insufficiently evaluated not reviewed unknown Array rs41418351 175 10758 0.016267 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 0 N - - CD93 Pro541Ser P541S not reviewed Insufficiently evaluated not reviewed unknown Array rs3746731 5369 10758 0.49907 40 0 55 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - CD93 Thr493Ile T493I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10754 0.00548633 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - CD96 Ala142Pro A142P not reviewed Insufficiently evaluated not reviewed unknown Array rs2276872 229 10758 0.0212865 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD97 Arg274Gln R274Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD97 Arg318Gln R318Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD97 Arg367Gln R367Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230748 1246 10758 0.115821 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD99 Asp149Asn D149N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CD99 Asp165Asn D165N not reviewed Insufficiently evaluated not reviewed unknown Array rs35112869 472 10750 0.043907 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - -1 - 1 N - - CDA Lys27Gln K27Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2072671 2817 10758 0.261852 17 0 17 3 2 - - - - - - - - - - - - - - - Y - - - -2 - 1 N - - CDA Ala70Thr A70T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs60369023 2 128 0.015625 2 0 2 2 2 - - - - - - - - - - - - - - - Y 0.354 - - 1 - 2 N - - CDAN1 Gln913Leu Q913L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y 5 Y 4 N - - CDAN1 Arg891Cys R891C not reviewed Insufficiently evaluated not reviewed unknown Array rs8023524 2909 10758 0.270403 27 0 37 0 0 5 Y - - - - - - - - - - Y - - - 0.914 Y Y 8 Y 3 N - - CDAN1 Gly657Ser G657S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747153 603 10758 0.0560513 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 2 N - - CDAN1 Gln596Arg Q596R not reviewed Insufficiently evaluated not reviewed unknown Array rs12917189 4516 10758 0.419781 39 0 62 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - CDAN1 Ala148Val A148V not reviewed Insufficiently evaluated not reviewed unknown Array rs73410959 543 10258 0.0529343 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 2 - 2 N - - CDAN1 Gln107Leu Q107L not reviewed Insufficiently evaluated not reviewed unknown Array rs4265781 466 1864 0.25 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - CDC123 Glu163Asp E163D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC14A Arg345Gln R345Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28364897 10 10756 0.000929713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - CDC20B Arg461Trp R461W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC20B Arg499Trp R499W not reviewed Insufficiently evaluated not reviewed unknown Array rs444527 1590 10758 0.147797 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CDC20B Ser454Ala S454A not reviewed Insufficiently evaluated not reviewed unknown Array rs3104230 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC20B Ser492Ala S492A not reviewed Insufficiently evaluated not reviewed unknown Array rs3104230 10392 10758 0.965979 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CDC20B Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array rs1021580 8058 10758 0.749024 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CDC25B Ala131Val A131V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - CDC25B Ala145Val A145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CDC25B Glu507Lys E507K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - CDC25B Glu534Lys E534K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - CDC25B Glu548Lys E548K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 7 - - CDC25B Gln539Arg Q539R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC25B Gln566Arg Q566R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC25B Gln580Arg Q580R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - CDC25C Gly224Arg G224R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDC25C Gly297Arg G297R not reviewed Insufficiently evaluated not reviewed unknown Array rs11567997 208 10758 0.0193344 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CDC25C Arg70Cys R70C not reviewed Insufficiently evaluated not reviewed unknown Array rs3734166 3616 10758 0.336122 34 0 45 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - CDC27 Trp638Arg W638R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CDC27 Trp644Arg W644R not reviewed Insufficiently evaluated not reviewed unknown Array 3232 10756 0.300483 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CDC27 Asn636Lys N636K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 1 - 2 N - - CDC27 Asn642Lys N642K not reviewed Insufficiently evaluated not reviewed unknown Array rs62075617 13 32 0.40625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CDC27 Tyr635Cys Y635C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - CDC27 Tyr641Cys Y641C not reviewed Insufficiently evaluated not reviewed unknown Array rs62075618 3150 10758 0.292805 8 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CDC27 Arg625Stop R625X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDC27 Arg631Stop R631X not reviewed Insufficiently evaluated not reviewed unknown Array 4805 10758 0.446644 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CDC27 Cys623Ser C623S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - CDC27 Cys629Ser C629S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Leu613Phe L613F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CDC27 Leu619Phe L619F not reviewed Insufficiently evaluated not reviewed unknown Array 6 30 0.2 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDC27 Phe611Leu F611L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CDC27 Phe617Leu F617L not reviewed Insufficiently evaluated not reviewed unknown Array 6 40 0.15 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDC27 His609Gln H609Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - CDC27 His615Gln H615Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC27 His609Arg H609R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - CDC27 His615Arg H615R not reviewed Insufficiently evaluated not reviewed unknown Array 6 14 0.428571 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CDC27 His609Asn H609N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CDC27 His615Asn H615N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Lys588Gln K588Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - -2 - 2 N - - CDC27 Lys594Gln K594Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC27 Arg581Trp R581W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CDC27 Arg587Trp R587W not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC27 Ser578Gly S578G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 2 N - - CDC27 Ser584Gly S584G not reviewed Insufficiently evaluated not reviewed unknown Array rs62075623 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC27 Leu559Phe L559F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - CDC27 Leu565Phe L565F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Asp549Glu D549E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - CDC27 Asp555Glu D555E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC27 Gln547Pro Q547P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - CDC27 Gln553Pro Q553P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC27 Leu546Pro L546P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - CDC27 Leu552Pro L552P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CDC27 Met516Thr M516T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC27 Met522Thr M522T not reviewed Insufficiently evaluated not reviewed unknown Array 7 60 0.116667 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDC27 Tyr515Ser Y515S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CDC27 Tyr521Ser Y521S not reviewed Insufficiently evaluated not reviewed unknown Array rs4071889 7 68 0.102941 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CDC27 Glu511Lys E511K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - CDC27 Glu517Lys E517K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Phe510Cys F510C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 4 Y 1 N - - CDC27 Phe516Cys F516C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC27 Tyr496Cys Y496C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - CDC27 Tyr502Cys Y502C not reviewed Insufficiently evaluated not reviewed unknown Array 3 6 0.5 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CDC27 Pro492Ala P492A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CDC27 Pro498Ala P498A not reviewed Insufficiently evaluated not reviewed unknown Array 3 6 0.5 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDC27 Ile487Thr I487T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - CDC27 Ile493Thr I493T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Asn480His N480H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CDC27 Asn486His N486H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Met469Arg M469R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - 4 Y 0 N - - CDC27 Met475Arg M475R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC27 Met463Leu M463L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.606 - - -3 - 1 N - - CDC27 Met469Leu M469L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CDC27 Thr444Ala T444A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Thr450Ala T450A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Ser443Ala S443A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - CDC27 Ser449Ala S449A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC27 Ile436Val I436V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CDC27 Ile442Val I442V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC27 Ile429Met I429M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - CDC27 Ile435Met I435M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC27 Ile429Val I429V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - CDC27 Ile435Val I435V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC27 Asn424Ser N424S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - CDC27 Asn430Ser N430S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Gln420Pro Q420P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC27 Gln426Pro Q426P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC27 Gly417Ala G417A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CDC27 Gly423Ala G423A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Lys408Arg K408R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -3 - 1 N - - CDC27 Lys414Arg K414R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CDC27 Lys394Arg K394R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -3 - 0 N - - CDC27 Lys400Arg K400R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CDC27 Ser393Arg S393R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CDC27 Ser399Arg S399R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Lys390Glu K390E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CDC27 Lys396Glu K396E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Phe382Leu F382L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - CDC27 Phe388Leu F388L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Ser378Asn S378N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CDC27 Ser384Asn S384N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CDC27 Leu374Pro L374P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - CDC27 Leu380Pro L380P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC27 Thr368Ala T368A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Thr374Ala T374A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Ile367Met I367M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC27 Ile373Met I373M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC27 Gln348Lys Q348K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - -2 - 1 N - - CDC27 Gln354Lys Q354K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC27 Ile345Ser I345S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CDC27 Ile351Ser I351S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDC27 Ile345Val I345V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC27 Ile351Val I351V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC27 Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CDC27 Glu347Lys E347K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 2 N - - CDC27 Arg346Gln R346Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Asn338Lys N338K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - CDC27 Asn344Lys N344K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Ser336Arg S336R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - CDC27 Ser342Arg S342R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Lys330Thr K330T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.684 - - 3 - 1 N - - CDC27 Lys336Thr K336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Lys330Gln K330Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - -2 - 1 N - - CDC27 Lys336Gln K336Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC27 Ser320Pro S320P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - 3 - 1 - 2 - - CDC27 Ser326Pro S326P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - CDC27 Pro306Ser P306S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Pro305Arg P305R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.072 - - 5 Y 0 N - - CDC27 Ser296Pro S296P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - CDC27 Phe282Val F282V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - CDC27 Leu275Val L275V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - CDC27 Ala273Gly A273G not reviewed Insufficiently evaluated not reviewed unknown Array 2494 10742 0.232173 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.257 - - 1 - 0 N - - CDC27 Thr264Pro T264P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC27 Asn260His N260H not reviewed Insufficiently evaluated not reviewed unknown Array rs3208659 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - CDC27 Leu254Stop L254X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDC27 Ile240Leu I240L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - -2 - 1 N - - CDC27 Tyr234Ser Y234S not reviewed Insufficiently evaluated not reviewed unknown Array 3668 10678 0.34351 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 5 Y 0 N - - CDC27 Ser231Pro S231P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Leu215Trp L215W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 5 Y 1 N - - CDC27 Arg214Gly R214G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - CDC27 Leu212Stop L212X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDC27 Ile210Val I210V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC27 Ser194Cys S194C not reviewed Insufficiently evaluated not reviewed unknown Array rs1136063 237 10758 0.0220301 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - CDC27 Asn190Ser N190S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Leu173Phe L173F not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - 0 - 0 N - - CDC27 Leu155Stop L155X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDC27 Ser150Tyr S150Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 5 Y 0 N - - CDC27 Ser150Cys S150C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - CDC27 Leu144Stop L144X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDC27 Ser143Arg S143R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CDC27 Tyr138Asp Y138D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.164 - - 7 Y 0 N - - CDC27 Ala132Thr A132T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC27 Thr117Pro T117P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - CDC27 Cys115Arg C115R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.876 - - 8 Y 2 N - - CDC27 Thr108Pro T108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 4 Y 0 N - - CDC27 Gln100Stop Q100X not reviewed Insufficiently evaluated not reviewed unknown Array 1865 10758 0.173359 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CDC27 Glu89Asp E89D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - -2 - 1 N - - CDC27 Tyr73Cys Y73C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - CDC27 Thr67Pro T67P not reviewed Insufficiently evaluated not reviewed unknown Array 2112 10756 0.196356 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CDC27 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - CDC27 Tyr48Ser Y48S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - CDC27 Leu27Pro L27P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - 7 Y 1 N - - CDC27 Phe26Ser F26S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CDC27 Glu6Gly E6G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - CDC27 Thr2Ala T2A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - CDC2L1 His112Arg H112R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2L1 His78Arg H78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2L1 Cys109Arg C109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDC2L1 Cys75Arg C75R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDC2L1 Val63Ala V63A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC2L1 Val97Ala V97A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC2L1 Arg59Trp R59W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC2L1 Arg93Trp R93W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC2L2 Leu389Ser L389S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDC2L2 Leu399Ser L399S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CDC2L2 His112Arg H112R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2L2 Cys109Arg C109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDC2L2 Trp109Arg W109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC2L2 Val97Ala V97A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC2L2 Arg93Trp R93W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC2L5 Thr500Ala T500A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2L5 Arg1306His R1306H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2L5 Arg1366His R1366H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC37 Gly360Glu G360E not reviewed Insufficiently evaluated not reviewed unknown Array rs280528 248 10758 0.0230526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 6 Y 3 - 3 - - CDC42BPA Ala1618Val A1618V not reviewed Insufficiently evaluated not reviewed unknown Array rs2802269 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC42BPA Ala1699Val A1699V not reviewed Insufficiently evaluated not reviewed unknown Array rs2802269 9688 10754 0.900874 56 0 104 0 0 - - - - - - - - - - - - - - - - 0.834 - - 2 - 0 N - - CDC42BPA Thr1524Ala T1524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CDC42BPA Thr1605Ala T1605A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CDC42BPA Val1223Ile V1223I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC42BPA Val1304Ile V1304I not reviewed Insufficiently evaluated not reviewed unknown Array rs1929860 3017 10758 0.280442 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CDC42BPA Arg1117His R1117H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CDC42BPA Arg1198His R1198H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CDC42BPA Thr231Met T231M not reviewed Insufficiently evaluated not reviewed unknown Array rs34614709 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.727 - - 2 - 2 - 3 - - CDC42BPB Ser1647Leu S1647L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDC42BPB Leu497Phe L497F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC42BPG Leu1382Arg L1382R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - CDC42BPG Gln1135Arg Q1135R not reviewed Insufficiently evaluated not reviewed unknown Array rs3741395 5420 10756 0.503905 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CDC42BPG Leu645Arg L645R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 6 Y 1 N - - CDC42BPG Lys586Glu K586E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - CDC42BPG Ala413Val A413V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - CDC42EP1 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array 220 10752 0.0204613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - CDC42EP1 Ala256Thr A256T not reviewed Insufficiently evaluated not reviewed unknown Array 887 9928 0.0893433 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CDC42EP1 Ser260Pro S260P not reviewed Insufficiently evaluated not reviewed unknown Array rs62235034 2065 9952 0.207496 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDC42EP2 Asn176Ser N176S not reviewed Insufficiently evaluated not reviewed unknown Array rs4149839 79 10758 0.00734337 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 3 - - CDC42EP5 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array 251 7596 0.0330437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC6 Val441Ile V441I not reviewed Insufficiently evaluated not reviewed unknown Array rs13706 2464 10758 0.229039 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.665 - - -4 - 0 N - - CDC7 His523Asp H523D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC7 Asn529Ser N529S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC73 Lys150Arg K150R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y -3 - 2 N - - CDC73 Gln430Stop Q430X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CDCA2 Val717Ile V717I not reviewed Insufficiently evaluated not reviewed unknown Array rs4872318 2768 10758 0.257297 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CDCA2 Arg721Cys R721C not reviewed Insufficiently evaluated not reviewed unknown Array rs73550864 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - CDCA2 Lys754Thr K754T not reviewed Insufficiently evaluated not reviewed unknown Array rs73550865 113 10750 0.0105116 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDCA2 Ile877Val I877V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDCA2 Arg884Ser R884S not reviewed Insufficiently evaluated not reviewed unknown Array rs3829009 2037 10758 0.189347 18 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDCA3 Leu126Met L126M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - CDCP1 Arg763Gln R763Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60698062 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 1 - 1 - - CDCP1 Asp709Gly D709G not reviewed Insufficiently evaluated not reviewed unknown Array rs9874077 9959 10758 0.92573 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CDCP1 Ala673Val A673V not reviewed Insufficiently evaluated not reviewed unknown Array rs35428731 585 10758 0.0543781 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDCP1 Gln525Arg Q525R not reviewed Insufficiently evaluated not reviewed unknown Array rs3749191 6630 10758 0.616286 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDCP1 Gly150Cys G150C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - CDCP1 Leu18Met L18M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - -3 - 1 N - - CDCP2 Pro408Arg P408R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDCP2 Gly244Arg G244R not reviewed Insufficiently evaluated not reviewed unknown Array rs3766465 8895 10752 0.827288 54 0 92 0 0 - - - - - - - - - - - - - - - - 0.239 - - 6 Y 0 N - - CDGAP Lys482Asn K482N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDGAP Pro567Leu P567L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDGAP Gly803Ser G803S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDGAP Val1366Met V1366M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CDH1 Ala592Thr A592T benign Insufficiently evaluated benign dominant Array rs35187787 44 10758 0.00408998 2 0 2 2 2 - - - - - - - - - - - - Y - - - 0.024 Y Y 1 - 3 - 10 - - This variant was initially reported in three individuals and one family with various forms of cancer (prostate/papillary thyroid/colorectal), and with a frequency of 0.005 in the Cancer500 panel. Its lack of functional significance and polymorphic frequency raised doubts as to its association with cancer. CDH1 Leu630Val L630V not reviewed Insufficiently evaluated not reviewed unknown Array rs2276331 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.757 Y Y 0 - 4 - 1 - - CDH11 Ser373Ala S373A not reviewed Insufficiently evaluated not reviewed unknown Array rs35213 7411 10758 0.688883 52 0 79 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CDH11 Val347Leu V347L not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CDH11 Met275Ile M275I not reviewed Insufficiently evaluated not reviewed unknown Array rs1130821 1238 10758 0.115077 26 0 27 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - CDH11 Thr255Met T255M not reviewed Insufficiently evaluated not reviewed unknown Array rs35195 2808 10758 0.261015 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 1 N - - CDH12 Ile658Asn I658N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - CDH12 Ile284Val I284V not reviewed Insufficiently evaluated not reviewed unknown Array rs17328673 271 10758 0.0251906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CDH12 Val68Met V68M not reviewed Insufficiently evaluated not reviewed unknown Array rs4371716 3984 10758 0.370329 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDH15 Ala37Ser A37S not reviewed Insufficiently evaluated not reviewed unknown Array rs2287359 641 10758 0.0595836 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.023 Y - -1 - 1 N - - CDH15 Lys584Gln K584Q not reviewed Insufficiently evaluated not reviewed unknown Array 1924 7392 0.260281 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -2 - 1 N - - CDH15 Tyr788Stop Y788X not reviewed Insufficiently evaluated not reviewed unknown Array rs2270416 391 10722 0.0364671 8 0 8 0 0 - - - - - - - - - - - - - - - - - Y - 10 Y 4 - 3 - - CDH16 Arg717His R717H not reviewed Insufficiently evaluated not reviewed unknown Array rs34621310 321 10758 0.0298383 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 1 - 2 - - CDH16 Ala577Val A577V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CDH16 Leu348Phe L348F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - CDH16 His257Tyr H257Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2271023 335 10758 0.0311396 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.941 - - -1 - 2 N - - CDH17 Glu739Ala E739A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051624 5095 10758 0.473601 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDH17 Glu734Asp E734D not reviewed Insufficiently evaluated not reviewed unknown Array rs1051623 8992 10758 0.835843 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CDH17 Arg499His R499H not reviewed Insufficiently evaluated not reviewed unknown Array rs73695135 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.951 - - 1 - 2 N - - CDH17 Lys115Glu K115E not reviewed Insufficiently evaluated not reviewed unknown Array rs2243518 8918 10758 0.828964 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDH18 Gln203His Q203H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.837 - - -1 - 2 - 1 - - CDH19 Gly727Val G727V not reviewed Insufficiently evaluated not reviewed unknown Array rs60951620 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CDH19 Gly645Ala G645A not reviewed Insufficiently evaluated not reviewed unknown Array rs55874520 202 10758 0.0187767 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CDH19 Val391Met V391M not reviewed Insufficiently evaluated not reviewed unknown Array rs72954429 1134 10758 0.10541 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDH2 Pro169Gln P169Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - CDH20 Pro328His P328H not reviewed Insufficiently evaluated not reviewed unknown Array rs1943330 1089 10758 0.101227 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 1 N - - CDH22 Ala782Val A782V not reviewed Insufficiently evaluated not reviewed unknown Array 309 10104 0.0305819 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CDH23 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array rs7902757 1247 10146 0.122906 17 0 21 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 5 - - CDH23 Val475Met V475M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.462 Y Y 0 - 3 N - - CDH23 Gly490Ala G490A benign Insufficiently evaluated benign unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.666 Y Y 1 - 4 - 3 - - Although this gene is associated with Usher Syndrome, current evidence indicates this variant is likely benign. CDH23 Ser496Asn S496N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.789 Y Y 0 - 4 - 2 - - CDH23 Arg1349Cys R1349C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 2 - - CDH23 Asn1351Asp N1351D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CDH23 Arg1437Gln R1437Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 4 - - CDH23 Ala1575Thr A1575T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - CDH23 Val1675Ile V1675I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 4 - 2 - - CDH23 Arg1804Gln R1804Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - CDH23 Asp1806Glu D1806E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - CDH23 Thr1999Ser T1999S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 4 - 7 - - CDH23 Glu2044Lys E2044K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - CDH23 Val2283Ile V2283I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 2 - - CDH23 Arg2358Gln R2358Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - CDH23 Pro2380Leu P2380L not reviewed Insufficiently evaluated not reviewed unknown Array 1 1 1 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 4 - - CDH23 Phe3125Leu F3125L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - CDH24 Arg332Ser R332S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10748 0.00623372 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.1 - - 3 - 0 N - - CDH26 Leu22Val L22V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - CDH26 Ile144Thr I144T not reviewed Insufficiently evaluated not reviewed unknown Array rs6015609 575 10758 0.0534486 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.825 - - 3 - 0 N - - CDH26 Val615Leu V615L not reviewed Insufficiently evaluated not reviewed unknown Array rs194998 420 10758 0.0390407 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.289 - - 0 - 1 N - - CDH26 Cys50Gly C50G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDH26 Cys717Gly C717G not reviewed Insufficiently evaluated not reviewed unknown Array rs41314912 195 10758 0.018126 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDH29 Gly314Ser G314S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDH29 Thr291Met T291M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDH3 Arg363Cys R363C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.71 - - 8 Y 1 N - - CDH3 Arg477His R477H not reviewed Insufficiently evaluated not reviewed unknown Array rs34494880 593 10758 0.0551218 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.009 - - 1 - 0 N - - CDH3 Gln563His Q563H not reviewed Insufficiently evaluated not reviewed unknown Array rs1126933 3277 10758 0.304611 27 0 37 0 0 - - - - - - - - - - - - Y - - - 0.002 - - -1 - 0 N - - CDH4 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array rs34937312 359 10758 0.0333705 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDH4 Val281Leu V281L not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - CDH4 Lys625Arg K625R not reviewed Insufficiently evaluated not reviewed unknown Array rs6142884 4828 10758 0.448782 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CDH5 Ile503Thr I503T not reviewed Insufficiently evaluated not reviewed unknown Array rs16956504 809 10758 0.0751998 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDH5 Ile517Thr I517T not reviewed Insufficiently evaluated not reviewed unknown Array rs1049970 6280 10758 0.583752 38 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDH5 Pro673Leu P673L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10358 0.00115852 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - CDH7 Asn576Ser N576S not reviewed Insufficiently evaluated not reviewed unknown Array rs2291343 6331 10758 0.588492 43 0 67 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - CDH8 Phe439Val F439V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 1 N - - CDH9 Ala38Val A38V not reviewed Insufficiently evaluated not reviewed unknown Array rs2288466 6109 10758 0.567856 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDH9 Tyr6Cys Y6C not reviewed Insufficiently evaluated not reviewed unknown Array rs2288467 5503 10758 0.511526 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CDK5 Arg260Lys R260K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - CDK5RAP2 Val1540Leu V1540L not reviewed Insufficiently evaluated not reviewed unknown Array rs4837768 7507 10758 0.697806 50 0 79 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 - 1 - - CDK5RAP2 Arg1045Thr R1045T not reviewed Insufficiently evaluated not reviewed unknown Array rs3780679 839 10758 0.0779885 10 0 12 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 1 N - - CDK5RAP2 Gly1022Glu G1022E not reviewed Insufficiently evaluated not reviewed unknown Array rs34523498 314 10758 0.0291876 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - CDK5RAP2 Ile715Ser I715S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - CDK5RAP2 Leu571Pro L571P not reviewed Insufficiently evaluated not reviewed unknown Array rs41296081 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - CDK5RAP2 Glu289Gln E289Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4836822 9138 10758 0.849414 53 0 89 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 - 1 - - CDK5RAP3 Thr237Met T237M not reviewed Insufficiently evaluated not reviewed unknown Array rs61752524 95 10380 0.00915221 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - CDK5RAP3 Leu258Ile L258I not reviewed Insufficiently evaluated not reviewed unknown Array rs12948207 244 10344 0.0235886 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CDKAL1 Pro409Leu P409L not reviewed Insufficiently evaluated not reviewed unknown Array rs56087852 535 10758 0.0497304 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.19 - - 7 Y 0 N - - CDKAL1 Asp555Ala D555A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 5 Y 1 N - - CDKAL1 Cys556Phe C556F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 4 Y 2 N - - CDKL1 Leu330Val L330V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - CDKL1 Lys311Glu K311E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CDKL1 Asn302Asp N302D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDKL1 Gln275Glu Q275E not reviewed Insufficiently evaluated not reviewed unknown Array rs7161563 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDKL2 Asp273Asn D273N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - CDKL3 Val565Met V565M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDKL4 Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 3 - 2 - - CDKL4 Ser288Tyr S288Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34819676 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.09 - - 5 Y 1 - 3 - - CDKL5 Val999Met V999M not reviewed Insufficiently evaluated not reviewed unknown Array rs35693326 328 8761 0.0374386 5 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - CDKN1A Ser31Arg S31R pathogenic Insufficiently evaluated pathogenic unknown Array rs1801270 1427 10758 0.132645 14 0 15 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 2 N - - Appears to be involved in tumor development, based on frequency of variant in tumor cell lines. CDKN1B Val109Gly V109G not reviewed Insufficiently evaluated not reviewed unknown Array rs2066827 4226 10742 0.393409 33 0 49 0 0 1 Y - - - - - - - - - - Y - - - 0.004 Y - 8 Y 2 - 9 - - CDKN1B Leu193Phe L193F not reviewed Insufficiently evaluated not reviewed unknown Array rs73281150 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.012 Y - 0 - 1 N - - CDKN2AIP Met256Ile M256I not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDKN2C Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDKN3 Ser30Leu S30L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CDKN3 Ser171Thr S171T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDKN3 Ser211Thr S211T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDKN3 Arg172Stop R172X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDKN3 Arg212Stop R212X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDKN3 Arg172Ile R172I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CDKN3 Arg212Ile R212I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDNF Trp154Ser W154S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738953 325 10758 0.0302101 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CDON Ile1221Asn I1221N not reviewed Insufficiently evaluated not reviewed unknown Array rs684535 7825 10758 0.727366 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CDON Ala686Val A686V not reviewed Insufficiently evaluated not reviewed unknown Array rs12274923 1776 10758 0.165086 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 0 N - - CDON Ala535Thr A535T not reviewed Insufficiently evaluated not reviewed unknown Array 274 10758 0.0254694 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDON Pro351Ala P351A not reviewed Insufficiently evaluated not reviewed unknown Array rs35665264 205 10758 0.0190556 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CDON Glu162Lys E162K not reviewed Insufficiently evaluated not reviewed unknown Array rs3740909 1074 10758 0.0998327 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDON Val75Ile V75I not reviewed Insufficiently evaluated not reviewed unknown Array rs3740912 6966 10756 0.647638 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CDON Lys66Arg K66R not reviewed Insufficiently evaluated not reviewed unknown Array rs7122277 334 10756 0.0310524 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - CDR1 Trp3Ser W3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - CDRT1 Val708Met V708M not reviewed Insufficiently evaluated not reviewed unknown Array rs28445278 4485 10522 0.42625 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDRT1 Asn644His N644H not reviewed Insufficiently evaluated not reviewed unknown Array rs79385100 1619 10758 0.150493 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDRT1 Phe643Leu F643L not reviewed Insufficiently evaluated not reviewed unknown Array rs8078150 3462 10758 0.321807 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDRT1 Asn466Asp N466D not reviewed Insufficiently evaluated not reviewed unknown Array 107 10642 0.0100545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDRT1 Asn378Asp N378D not reviewed Insufficiently evaluated not reviewed unknown Array rs62070402 2097 10754 0.194997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 1 - - CDRT15 Leu147Pro L147P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDRT15 Leu87Arg L87R not reviewed Insufficiently evaluated not reviewed unknown Array rs4791565 121 122 0.991803 49 0 98 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CDRT15 Arg24Gln R24Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17679866 1 74 0.0135135 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - CDRT4 His121Gln H121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2954759 1974 10758 0.183491 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CDRT4 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array rs3744332 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDRT4 Lys8Glu K8E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CDS1 Trp141Cys W141C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - CDSN Asn527Asp N527D not reviewed Insufficiently evaluated not reviewed unknown Array rs3130981 7616 9506 0.801178 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CDSN Leu410Ser L410S not reviewed Insufficiently evaluated not reviewed unknown Array rs3132554 6045 10756 0.562012 35 0 52 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CDSN Gly409Val G409V not reviewed Insufficiently evaluated not reviewed unknown Array rs9501054 266 10754 0.024735 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDSN Ser408Ala S408A not reviewed Insufficiently evaluated not reviewed unknown Array rs1042127 1726 10754 0.160498 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CDSN Phe202Ser F202S not reviewed Insufficiently evaluated not reviewed unknown Array rs707913 2845 10758 0.264454 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CDSN Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array rs3130984 8433 10714 0.787101 17 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDSN Leu56Phe L56F not reviewed Insufficiently evaluated not reviewed unknown Array rs7742033 182 9174 0.0198387 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDSN Met18Leu M18L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3095318 2020 10730 0.188257 12 0 12 1 1 - - - - - - - - - - - - - - - Y - - - -3 - 1 N - - CDT1 Glu212Lys E212K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CDT1 Cys234Arg C234R benign Insufficiently evaluated benign unknown Array rs507329 10753 10758 0.999535 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CDT1 Thr262Ala T262A not reviewed Insufficiently evaluated not reviewed unknown Array rs480727 5323 10742 0.495532 35 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CDX1 Pro130Arg P130R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302275 4140 6794 0.609361 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CDX2 Pro293Ser P293S not reviewed Insufficiently evaluated not reviewed unknown Array rs1805107 7579 10758 0.704499 42 0 70 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDX2 Ala149Ser A149S not reviewed Insufficiently evaluated not reviewed unknown Array 574 9464 0.0606509 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.552 - - -1 - 0 N - - CDYL2 Val253Ile V253I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CEACAM1 Gln123His Q123H not reviewed Insufficiently evaluated not reviewed unknown Array rs8111468 1280 10758 0.118981 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.056 - - -1 - 0 N - - CEACAM1 Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.42 - - 3 - 1 N - - CEACAM1 Ala83Val A83V not reviewed Insufficiently evaluated not reviewed unknown Array rs8110904 1148 10758 0.106711 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CEACAM1 Gln35Lys Q35K not reviewed Insufficiently evaluated not reviewed unknown Array rs8111171 1316 10758 0.122328 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.037 - - -2 - 0 N - - CEACAM16 Val31Phe V31F not reviewed Insufficiently evaluated not reviewed unknown Array rs2119660 439 5016 0.0875199 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CEACAM18 Ala14Pro A14P not reviewed Insufficiently evaluated not reviewed unknown Array rs11878388 1808 9754 0.18536 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CEACAM18 Val108Met V108M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743859 2286 10026 0.228007 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEACAM18 Ser198Asn S198N not reviewed Insufficiently evaluated not reviewed unknown Array rs62115071 1576 9978 0.157947 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEACAM18 Leu221His L221H not reviewed Insufficiently evaluated not reviewed unknown Array rs8106673 8485 10294 0.824267 50 0 86 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 1 N - - CEACAM18 Thr222Ala T222A not reviewed Insufficiently evaluated not reviewed unknown Array 154 10290 0.014966 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 1 - 2 N - - CEACAM18 Asn343Tyr N343Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEACAM18 His378Arg H378R not reviewed Insufficiently evaluated not reviewed unknown Array rs10426247 2118 10446 0.202757 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CEACAM18 Leu392Pro L392P not reviewed Insufficiently evaluated not reviewed unknown Array rs8100294 72 10502 0.00685584 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEACAM19 Pro269Ala P269A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 2 - 2 N - - CEACAM20 Leu419Ser L419S not reviewed Insufficiently evaluated not reviewed unknown Array rs8100718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM20 Leu512Ser L512S not reviewed Insufficiently evaluated not reviewed unknown Array rs8100718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM20 Leu397Phe L397F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEACAM20 Leu490Phe L490F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEACAM20 Tyr377Cys Y377C not reviewed Insufficiently evaluated not reviewed unknown Array rs1465723 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM20 Tyr470Cys Y470C not reviewed Insufficiently evaluated not reviewed unknown Array rs1465723 1668 9992 0.166934 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CEACAM20 Ser369Phe S369F not reviewed Insufficiently evaluated not reviewed unknown Array rs10414398 1387 10454 0.132676 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CEACAM20 Ser355Leu S355L not reviewed Insufficiently evaluated not reviewed unknown Array rs16959164 296 10504 0.0281797 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - CEACAM20 Val108Ile V108I not reviewed Insufficiently evaluated not reviewed unknown Array rs7260180 4992 10412 0.479447 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CEACAM20 Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array rs10408247 2367 10320 0.22936 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CEACAM21 Asn111Lys N111K not reviewed Insufficiently evaluated not reviewed unknown Array rs78133615 273 10696 0.0255236 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CEACAM21 Thr121Asn T121N not reviewed Insufficiently evaluated not reviewed unknown Array rs714106 5994 10694 0.560501 32 0 48 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 1 N - - CEACAM21 Met198Val M198V not reviewed Insufficiently evaluated not reviewed unknown Array rs2302188 6640 10214 0.650088 40 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEACAM3 Ser77Arg S77R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738270 117 10758 0.0108756 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEACAM3 Leu78Gln L78Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61738269 92 10738 0.0085677 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEACAM3 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737019 17 10702 0.00158849 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEACAM3 Tyr95Asn Y95N not reviewed Insufficiently evaluated not reviewed unknown Array rs61737015 32 10726 0.0029834 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEACAM3 Thr103Pro T103P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737014 219 10758 0.0203569 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEACAM4 Lys69Arg K69R not reviewed Insufficiently evaluated not reviewed unknown Array rs3848568 1200 10758 0.111545 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.246 - - -3 - 0 N - - CEACAM4 His29Asp H29D not reviewed Insufficiently evaluated not reviewed unknown Array rs1126454 5303 10758 0.492935 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CEACAM5 Ile80Val I80V not reviewed Insufficiently evaluated not reviewed unknown Array rs12971352 2095 10758 0.194739 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - CEACAM5 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array rs28683503 2172 10758 0.201896 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.404 - - 2 - 0 N - - CEACAM5 Pro103Ser P103S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.208 - - 3 - 1 N - - CEACAM5 Val335Met V335M not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - CEACAM5 Ala340Asp A340D not reviewed Insufficiently evaluated not reviewed unknown Array rs10407503 605 10758 0.0562372 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.963 - - 5 Y 1 N - - CEACAM5 Lys398Glu K398E not reviewed Insufficiently evaluated not reviewed unknown Array rs7249230 9260 10758 0.860755 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEACAM5 Asp588Asn D588N not reviewed Insufficiently evaluated not reviewed unknown Array rs61735249 64 10758 0.00594906 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - CEACAM5 Arg664Ser R664S not reviewed Insufficiently evaluated not reviewed unknown Array rs10423171 645 10758 0.0599554 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.811 - - 3 - 0 N - - CEACAM6 Gly85Glu G85E not reviewed Insufficiently evaluated not reviewed unknown Array rs61736638 300 10754 0.0278966 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM6 Gly239Val G239V not reviewed Insufficiently evaluated not reviewed unknown Array rs11548735 5420 10758 0.503811 39 0 57 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CEACAM7 Glu237Lys E237K not reviewed Insufficiently evaluated not reviewed unknown Array rs35494482 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - CEACAM7 Tyr236His Y236H not reviewed Insufficiently evaluated not reviewed unknown Array rs16975478 495 10758 0.0460123 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - CEACAM7 Phe120Ile F120I not reviewed Insufficiently evaluated not reviewed unknown Array rs8102488 6173 10758 0.573806 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - CEACAM8 Ile340Met I340M not reviewed Insufficiently evaluated not reviewed unknown Array rs8103051 751 10758 0.0698085 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.73 - - -1 - 0 N - - CEACAM8 Leu322Val L322V not reviewed Insufficiently evaluated not reviewed unknown Array rs45476198 1122 10758 0.104294 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEACAM8 Thr247Ala T247A not reviewed Insufficiently evaluated not reviewed unknown Array rs45591641 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - CEACAM8 Gly17Val G17V not reviewed Insufficiently evaluated not reviewed unknown Array rs28367882 746 10758 0.0693437 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - CEBPZ Val671Ile V671I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CEBPZ Asp509Asn D509N not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - CEBPZ Val102Ala V102A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEBPZ Val102Ile V102I not reviewed Insufficiently evaluated not reviewed unknown Array rs2098386 9476 10756 0.880997 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CEBPZ Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array rs3213746 169 10758 0.0157092 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CECR1 His335Arg H335R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231495 4339 10758 0.403328 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CECR1 His94Arg H94R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CECR2 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CECR2 Arg633Trp R633W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CECR2 Gly662Val G662V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CECR2 Lys1374Glu K1374E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CECR5 Arg339Ser R339S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CECR5 Arg369Ser R369S not reviewed Insufficiently evaluated not reviewed unknown Array rs16982020 261 10756 0.0242655 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.055 - - 3 - 0 N - - CECR5 Leu146Val L146V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CECR5 Leu176Val L176V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CECR5 Arg33Cys R33C not reviewed Insufficiently evaluated not reviewed unknown Array rs7287672 1173 5428 0.216102 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CECR6 Ala449Val A449V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741055 223 10294 0.0216631 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 2 - 1 N - - CEL Asn325Ser N325S not reviewed Insufficiently evaluated not reviewed unknown Array 98 9608 0.0101998 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CEL Thr412Ile T412I not reviewed Insufficiently evaluated not reviewed unknown Array 1565 8134 0.192402 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CEL Ile488Thr I488T not reviewed Insufficiently evaluated not reviewed unknown Array 113 10116 0.0111704 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEL Ala715Thr A715T not reviewed Insufficiently evaluated not reviewed unknown Array 44 8572 0.00513299 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELA1 Leu210Pro L210P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - CELA1 Ser178Arg S178R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - CELA1 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array rs17860300 2594 10758 0.241123 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.24 - - 0 - 0 N - - CELA1 Arg44Trp R44W not reviewed Insufficiently evaluated not reviewed unknown Array rs17860299 1458 10758 0.135527 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CELA2B Gly79Arg G79R not reviewed Insufficiently evaluated not reviewed unknown Array rs3820071 2687 10758 0.249768 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CELA2B Asp114Asn D114N not reviewed Insufficiently evaluated not reviewed unknown Array rs3766160 2690 10758 0.250046 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CELA2B Gln177Arg Q177R not reviewed Insufficiently evaluated not reviewed unknown Array rs6429745 10679 10758 0.992657 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CELA3A Val14Ile V14I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CELA3A Ala241Gly A241G not reviewed Insufficiently evaluated not reviewed unknown Array rs3820285 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELA3B Arg79Trp R79W not reviewed Insufficiently evaluated not reviewed unknown Array rs7528405 10186 10758 0.94683 50 0 89 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CELA3B Ile209Met I209M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CELSR1 Gly2948Ser G2948S not reviewed Insufficiently evaluated not reviewed unknown Array rs35364389 2449 10744 0.227941 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CELSR1 Glu2903Gln E2903Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9615351 3642 10738 0.339169 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.69 - - -2 - 0 N - - CELSR1 Cys2797Ser C2797S not reviewed Insufficiently evaluated not reviewed unknown Array rs12165943 4098 10664 0.384284 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CELSR1 Ser2761Leu S2761L not reviewed Insufficiently evaluated not reviewed unknown Array 27 9872 0.00273501 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 6 Y 0 N - - CELSR1 Tyr2473Cys Y2473C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CELSR1 Thr2268Ala T2268A not reviewed Insufficiently evaluated not reviewed unknown Array rs6007897 3238 10758 0.300985 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - CELSR1 Ile2107Val I2107V not reviewed Insufficiently evaluated not reviewed unknown Array rs4044210 3531 10756 0.328282 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CELSR1 Thr2045Met T2045M not reviewed Insufficiently evaluated not reviewed unknown Array rs12169391 112 10750 0.0104186 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.214 - - 2 - 1 N - - CELSR1 Leu1995Pro L1995P not reviewed Insufficiently evaluated not reviewed unknown Array rs6008794 3382 10756 0.314429 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CELSR1 Leu1994Pro L1994P not reviewed Insufficiently evaluated not reviewed unknown Array rs6008795 2410 10756 0.224061 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CELSR1 Glu1391Lys E1391K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - CELSR1 Thr1296Met T1296M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CELSR1 Val1242Ile V1242I not reviewed Insufficiently evaluated not reviewed unknown Array rs6008842 539 10758 0.0501022 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.018 - - -4 - 0 N - - CELSR1 Cys1126Arg C1126R not reviewed Insufficiently evaluated not reviewed unknown Array rs4823561 10034 10758 0.932701 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CELSR1 Ala773Val A773V not reviewed Insufficiently evaluated not reviewed unknown Array rs12170597 45 10756 0.00418371 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - CELSR1 Ser664Trp S664W not reviewed Insufficiently evaluated not reviewed unknown Array rs4823850 9256 10712 0.864078 54 0 91 0 0 - - - - - - - - - - - - - - - - 0.673 - - 7 Y 0 N - - CELSR1 Ile587Val I587V not reviewed Insufficiently evaluated not reviewed unknown Array rs34141466 216 10758 0.0200781 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.154 - - -4 - 0 N - - CELSR1 Leu556Val L556V not reviewed Insufficiently evaluated not reviewed unknown Array rs11575871 259 10758 0.0240751 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - CELSR1 Pro219Leu P219L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CELSR2 Leu17Pro L17P not reviewed Insufficiently evaluated not reviewed unknown Array 17 9112 0.00186567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CELSR2 Leu143Phe L143F not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CELSR2 Arg1066Gln R1066Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12083590 53 10758 0.00492657 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 1 - 3 - - CELSR2 Tyr1639His Y1639H not reviewed Insufficiently evaluated not reviewed unknown Array rs653635 1543 10758 0.143428 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - CELSR2 Arg2015Lys R2015K not reviewed Insufficiently evaluated not reviewed unknown Array rs72703203 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - CELSR2 Ile2411Val I2411V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - CELSR2 Ala2422Gly A2422G not reviewed Insufficiently evaluated not reviewed unknown Array rs74116308 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 1 - 0 N - - CELSR2 Pro2756Ser P2756S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - CELSR2 Ala2806Val A2806V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CELSR3 Arg2779Gln R2779Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CELSR3 Gly2246Asp G2246D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CELSR3 Gly2033Arg G2033R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CELSR3 Gln1758Arg Q1758R not reviewed Insufficiently evaluated not reviewed unknown Array rs12107252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CELSR3 Ser805Thr S805T not reviewed Insufficiently evaluated not reviewed unknown Array rs3821875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CEMP1 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10122 0.00167951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEMP1 Lys55Glu K55E not reviewed Insufficiently evaluated not reviewed unknown Array rs13331643 706 10126 0.0697215 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPC1 Gly389Asp G389D not reviewed Insufficiently evaluated not reviewed unknown Array rs1056787 631 9474 0.0666033 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 1 - - CENPC1 Leu341Phe L341F not reviewed Insufficiently evaluated not reviewed unknown Array rs11250 5956 9712 0.613262 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPC1 Pro74Ala P74A not reviewed Insufficiently evaluated not reviewed unknown Array 55 9314 0.00590509 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CENPE Thr2090Met T2090M not reviewed Insufficiently evaluated not reviewed unknown Array rs2243682 1612 10758 0.149842 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.508 - - 2 - 0 N - - CENPE Ser1911Thr S1911T not reviewed Insufficiently evaluated not reviewed unknown Array rs1381657 1972 10758 0.183305 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CENPE Ser1581Arg S1581R not reviewed Insufficiently evaluated not reviewed unknown Array rs35100664 230 10754 0.0213874 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 3 - 3 - - CENPE Phe1535Leu F1535L not reviewed Insufficiently evaluated not reviewed unknown Array rs2615542 1693 10750 0.157488 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPE Thr1268Ile T1268I not reviewed Insufficiently evaluated not reviewed unknown Array rs79431579 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CENPE Ser851Ala S851A not reviewed Insufficiently evaluated not reviewed unknown Array rs75568479 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - CENPE Gly278Val G278V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 3 - 1 - - CENPF Arg300Cys R300C not reviewed Insufficiently evaluated not reviewed unknown Array rs17023281 187 10758 0.0173824 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CENPF Ile415Leu I415L not reviewed Insufficiently evaluated not reviewed unknown Array rs61999278 89 10758 0.00827291 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CENPF His494Gln H494Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2070065 2923 10758 0.271705 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CENPF Met701Val M701V not reviewed Insufficiently evaluated not reviewed unknown Array rs3795524 728 10758 0.0676706 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPF Gln754Glu Q754E not reviewed Insufficiently evaluated not reviewed unknown Array rs3795523 726 10758 0.0674847 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CENPF Arg815His R815H not reviewed Insufficiently evaluated not reviewed unknown Array rs3795522 716 10748 0.066617 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CENPF Tyr1018Asp Y1018D not reviewed Insufficiently evaluated not reviewed unknown Array rs3795519 696 10714 0.0649617 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CENPF Gly1033Arg G1033R not reviewed Insufficiently evaluated not reviewed unknown Array rs3795518 1158 10708 0.108143 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CENPF Thr1105Ile T1105I not reviewed Insufficiently evaluated not reviewed unknown Array rs12067133 728 10758 0.0676706 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CENPF Glu1145Asp E1145D not reviewed Insufficiently evaluated not reviewed unknown Array rs61732030 482 10758 0.0448039 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CENPF Leu1412Ser L1412S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795517 728 10758 0.0676706 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CENPF Ala1515Thr A1515T not reviewed Insufficiently evaluated not reviewed unknown Array rs2666839 2876 10758 0.267336 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CENPF Lys1539Arg K1539R not reviewed Insufficiently evaluated not reviewed unknown Array rs3795514 307 10758 0.0285369 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CENPF Asn1703Ser N1703S not reviewed Insufficiently evaluated not reviewed unknown Array rs11811736 483 10758 0.0448968 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CENPF Asp1768Asn D1768N not reviewed Insufficiently evaluated not reviewed unknown Array rs3748692 759 10758 0.0705521 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.6 - - -1 - 0 N - - CENPF His1770Gln H1770Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3748693 2226 10758 0.206916 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CENPF Asp1978Gly D1978G not reviewed Insufficiently evaluated not reviewed unknown Array rs3790646 750 10758 0.0697156 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CENPF Glu2011Ala E2011A not reviewed Insufficiently evaluated not reviewed unknown Array rs3790647 780 10758 0.0725042 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.774 - - 3 - 0 N - - CENPF Ser2072Tyr S2072Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CENPF Ala2139Thr A2139T not reviewed Insufficiently evaluated not reviewed unknown Array rs3748695 763 10758 0.070924 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CENPF Gln2225Arg Q2225R not reviewed Insufficiently evaluated not reviewed unknown Array rs12058704 753 10754 0.0700205 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPF Ala2356Val A2356V not reviewed Insufficiently evaluated not reviewed unknown Array rs3748696 760 10758 0.0706451 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CENPF Asn2396Asp N2396D not reviewed Insufficiently evaluated not reviewed unknown Array rs3748697 4056 10754 0.377162 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CENPF Arg2729Gln R2729Q not reviewed Insufficiently evaluated not reviewed unknown Array rs335524 4194 10758 0.389849 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPF Arg2943Gly R2943G not reviewed Insufficiently evaluated not reviewed unknown Array rs438034 5288 10758 0.491541 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CENPF Asn3106Lys N3106K not reviewed Insufficiently evaluated not reviewed unknown Array rs7289 5423 10758 0.50409 44 0 59 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CENPH Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - CENPJ Ser936Gly S936G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.025 - Y 2 - 1 N - - CENPJ Ser879Ala S879A not reviewed Insufficiently evaluated not reviewed unknown Array rs17402892 1144 10758 0.106339 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y -1 - 2 - 1 - - CENPJ Asp762Glu D762E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 - Y -2 - 1 N - - CENPJ Pro85Thr P85T not reviewed Insufficiently evaluated not reviewed unknown Array rs9511510 1138 10758 0.105782 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.021 - Y 4 Y 2 - 1 - - CENPJ Pro55Ala P55A not reviewed Insufficiently evaluated not reviewed unknown Array rs17081389 339 10758 0.0315114 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.983 - Y 2 - 4 - 3 - - CENPJ Met21Val M21V not reviewed Insufficiently evaluated not reviewed unknown Array rs35498994 1329 10758 0.123536 9 0 11 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 0 - 3 - 2 - - CENPM Arg3Stop R3X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CENPM Asp8Gly D8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - CENPM Leu4Phe L4F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 2 N - - CENPN Glu84Asp E84D not reviewed Insufficiently evaluated not reviewed unknown Array rs935939 10587 10758 0.984105 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CENPN Ala181Gly A181G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CENPN Val243Ile V243I not reviewed Insufficiently evaluated not reviewed unknown Array 44 9490 0.00463646 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CENPN Glu288Lys E288K not reviewed Insufficiently evaluated not reviewed unknown Array rs2549887 6503 9630 0.675286 50 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPO Gln34Arg Q34R not reviewed Insufficiently evaluated not reviewed unknown Array rs1550116 1484 10758 0.137944 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPP Arg182Cys R182C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CENPQ Gly63Arg G63R not reviewed Insufficiently evaluated not reviewed unknown Array rs4267943 4065 10758 0.377858 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CENPQ Ala230Val A230V not reviewed Insufficiently evaluated not reviewed unknown Array 76 10756 0.00706582 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CENPQ Asp266Gly D266G not reviewed Insufficiently evaluated not reviewed unknown Array rs2501968 4394 10758 0.40844 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.054 - - 4 Y 0 N - - CENPT Arg122Gly R122G not reviewed Insufficiently evaluated not reviewed unknown Array rs11558533 26 10132 0.00256613 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 3 - 1 - - CEP110 Val56Ile V56I not reviewed Insufficiently evaluated not reviewed unknown Array rs10818503 6121 10758 0.568972 38 0 56 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - CEP110 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array rs10818504 3737 10758 0.347369 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - CEP110 Leu422Val L422V not reviewed Insufficiently evaluated not reviewed unknown Array 287 10758 0.0266778 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - CEP110 Thr589Met T589M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - CEP110 Met1146Val M1146V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 3 - 1 - - CEP110 Arg1350Trp R1350W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - CEP120 Gln879His Q879H not reviewed Insufficiently evaluated not reviewed unknown Array rs1047437 1687 10756 0.156843 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CEP120 Leu602Val L602V not reviewed Insufficiently evaluated not reviewed unknown Array rs6595440 4175 10744 0.388589 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP135 Thr2Ala T2A not reviewed Insufficiently evaluated not reviewed unknown Array rs73155549 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CEP135 Gly159Cys G159C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEP135 Ser407Asn S407N not reviewed Insufficiently evaluated not reviewed unknown Array rs62641664 180 10756 0.0167348 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP135 Ile769Leu I769L not reviewed Insufficiently evaluated not reviewed unknown Array rs3214045 2258 10756 0.209929 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CEP152 Cys1093Tyr C1093Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74012142 63 9954 0.00632911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEP152 Gln935Arg Q935R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP152 Leu914Val L914V not reviewed Insufficiently evaluated not reviewed unknown Array rs16961560 539 9492 0.0567847 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP152 Ser793Ile S793I not reviewed Insufficiently evaluated not reviewed unknown Array rs2289178 11 9696 0.00113449 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEP164 Ser94Asn S94N not reviewed Insufficiently evaluated not reviewed unknown Array rs490262 2450 10758 0.227738 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP164 Thr568Pro T568P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - CEP164 Thr988Ser T988S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305830 3112 10758 0.289273 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.615 - - -2 - 0 N - - CEP164 Gln1119Arg Q1119R not reviewed Insufficiently evaluated not reviewed unknown Array rs573455 5712 10758 0.530954 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP164 Pro1239Leu P1239L not reviewed Insufficiently evaluated not reviewed unknown Array rs61995733 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEP170 Arg1305Thr R1305T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP170 Arg1331Thr R1331T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP170 Arg1429Thr R1429T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CEP170 Ser694Stop S694X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CEP170 Ser792Stop S792X not reviewed Insufficiently evaluated not reviewed unknown Array 436 9618 0.0453317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CEP170 Glu558Lys E558K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - CEP170 Glu656Lys E656K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - CEP170 Glu348Lys E348K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - CEP170 Ser252Leu S252L not reviewed Insufficiently evaluated not reviewed unknown Array rs10157680 182 9456 0.019247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CEP170 Gly213Ser G213S not reviewed Insufficiently evaluated not reviewed unknown Array rs2631092 408 3612 0.112957 48 0 91 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CEP192 Thr457Ala T457A not reviewed Insufficiently evaluated not reviewed unknown Array rs10048340 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.151 - - 1 - 1 - 2 - - CEP192 Thr636Ile T636I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CEP192 Val769Met V769M not reviewed Insufficiently evaluated not reviewed unknown Array rs2282542 24 128 0.1875 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP192 Arg948His R948H not reviewed Insufficiently evaluated not reviewed unknown Array rs7228940 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - CEP192 Ser956Pro S956P not reviewed Insufficiently evaluated not reviewed unknown Array rs578208 94 128 0.734375 46 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CEP192 Leu1105Phe L1105F not reviewed Insufficiently evaluated not reviewed unknown Array rs6505780 96 128 0.75 46 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP192 Ser1455Asn S1455N not reviewed Insufficiently evaluated not reviewed unknown Array rs2027698 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP192 Arg1519Gln R1519Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56913743 23 126 0.18254 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP192 Leu1525Pro L1525P not reviewed Insufficiently evaluated not reviewed unknown Array rs474337 79 110 0.718182 37 0 63 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CEP192 Ala1545Thr A1545T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - CEP192 Lys1675Glu K1675E not reviewed Insufficiently evaluated not reviewed unknown Array rs3737379 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 0 N - - CEP192 Arg1853Leu R1853L not reviewed Insufficiently evaluated not reviewed unknown Array rs1786263 88 120 0.733333 42 0 73 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CEP250 Ala568Thr A568T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 1 - 1 N - - CEP250 Arg1385Gln R1385Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CEP250 Arg1441Gln R1441Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3748433 1225 10758 0.113869 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - CEP250 Arg1801His R1801H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP250 Arg1857His R1857H not reviewed Insufficiently evaluated not reviewed unknown Array rs73903079 46 10754 0.00427748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CEP250 His1997Tyr H1997Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CEP250 His2053Tyr H2053Y not reviewed Insufficiently evaluated not reviewed unknown Array rs57577046 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - CEP250 Pro2174Thr P2174T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEP250 Pro2230Thr P2230T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - CEP290 Arg1746Gln R1746Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 9430 0.00763521 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.871 Y Y 0 - 4 N - - CEP290 Arg1237His R1237H not reviewed Insufficiently evaluated not reviewed unknown Array rs7307793 509 9716 0.0523878 11 0 11 0 0 2 Y - - - - - - - - - - Y - - - 0.073 Y Y 1 - 2 N - - CEP290 Gln1136His Q1136H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y Y -1 - 4 N - - CEP290 Ala1129Pro A1129P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 2 - 2 N - - CEP290 Lys838Glu K838E not reviewed Insufficiently evaluated not reviewed unknown Array rs11104738 302 9334 0.0323548 4 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - CEP290 Asp664Gly D664G benign Low clinical importance, Likely benign unknown Array 79 8990 0.00878754 4 0 6 1 1 ! Y - - 4 Y 2 Y - - - - Y - - - 0.958 Y Y 4 Y 5 - 1 0 1 Reported as a non-pathogenic polymorphism, appears to be more common in East Asians. CEP350 Ala377Thr A377T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP350 Glu945Gln E945Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2477120 5735 10758 0.533092 44 0 61 0 0 - - - - - - - - - - - - - - - - 0.168 - - -2 - 0 N - - CEP350 Thr1446Ala T1446A not reviewed Insufficiently evaluated not reviewed unknown Array rs16855164 828 10758 0.076966 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.197 - - 1 - 0 N - - CEP350 Ser1517Ala S1517A not reviewed Insufficiently evaluated not reviewed unknown Array rs12124336 732 10728 0.0682327 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.849 - - -1 - 0 N - - CEP350 Ser1699Phe S1699F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - CEP55 His57Gln H57Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3740370 2694 10758 0.250418 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CEP55 Leu59Phe L59F not reviewed Insufficiently evaluated not reviewed unknown Array rs62618732 343 10758 0.0318832 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP55 Thr99Ala T99A not reviewed Insufficiently evaluated not reviewed unknown Array rs7080916 10590 10758 0.984384 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CEP55 Gly227Asp G227D not reviewed Insufficiently evaluated not reviewed unknown Array rs59085212 490 10758 0.0455475 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEP55 Cys236Arg C236R not reviewed Insufficiently evaluated not reviewed unknown Array rs7072484 1212 10758 0.11266 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CEP55 Ala244Pro A244P not reviewed Insufficiently evaluated not reviewed unknown Array rs41308663 412 10758 0.0382971 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEP55 Arg348Lys R348K not reviewed Insufficiently evaluated not reviewed unknown Array rs75139274 796 10758 0.0739914 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CEP55 His378Leu H378L not reviewed Insufficiently evaluated not reviewed unknown Array rs2293277 6525 10758 0.606525 41 0 60 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CEP57 Arg448Gly R448G not reviewed Insufficiently evaluated not reviewed unknown Array rs644799 3160 10758 0.293735 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CEP63 Ser651Leu S651L not reviewed Insufficiently evaluated not reviewed unknown Array rs1127826 2807 10758 0.260922 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.027 - - 6 Y 0 N - - CEP68 Arg27Gly R27G not reviewed Insufficiently evaluated not reviewed unknown Array rs12611491 69 10758 0.00641383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 1 - 3 - - CEP68 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array rs7572857 1368 10758 0.127161 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CEP68 Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs13389745 703 10758 0.0653467 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CEP68 Asn356Lys N356K not reviewed Insufficiently evaluated not reviewed unknown Array 1146 10758 0.106525 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - 1 - 0 N - - CEP68 Cys357Ser C357S not reviewed Insufficiently evaluated not reviewed unknown Array 1141 10758 0.106061 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 1 N - - CEP68 Leu397Pro L397P not reviewed Insufficiently evaluated not reviewed unknown Array rs35501092 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 3 - 1 - - CEP70 Asn537Ser N537S not reviewed Insufficiently evaluated not reviewed unknown Array rs35340237 1234 10758 0.114705 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP70 Ser135Asn S135N not reviewed Insufficiently evaluated not reviewed unknown Array rs1673607 6105 10752 0.567801 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP72 Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array rs62001013 467 10758 0.0434096 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP72 Pro412Thr P412T not reviewed Insufficiently evaluated not reviewed unknown Array rs12522955 1515 10758 0.140825 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - CEP72 Thr509Ala T509A not reviewed Insufficiently evaluated not reviewed unknown Array rs868649 2366 10758 0.219929 27 0 28 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - CEP72 Ser607Arg S607R not reviewed Insufficiently evaluated not reviewed unknown Array rs62000998 304 10756 0.0282633 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - CEP72 Pro635Ser P635S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - 3 - 1 N - - CEP76 Gly203Arg G203R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - CEP76 Met179Ile M179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - CEP76 Ser172Asn S172N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CEP97 Val319Leu V319L not reviewed Insufficiently evaluated not reviewed unknown Array rs59720918 157 10758 0.0145938 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - CER1 Thr245Met T245M not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - CER1 Val179Ile V179I not reviewed Insufficiently evaluated not reviewed unknown Array rs7036635 1089 10758 0.101227 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 1 N - - CER1 Ala65Gly A65G not reviewed Insufficiently evaluated not reviewed unknown Array rs3747532 5040 10758 0.468489 36 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CER1 Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array rs10115703 941 10758 0.0874698 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.722 - - 7 Y 0 N - - CERCAM Glu435Lys E435K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CERCAM Leu587Phe L587F not reviewed Insufficiently evaluated not reviewed unknown Array 51 10714 0.00476013 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CERK Leu306Phe L306F not reviewed Insufficiently evaluated not reviewed unknown Array rs13057352 331 10758 0.0307678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 1 - 5 - - CERK Thr211Met T211M not reviewed Insufficiently evaluated not reviewed unknown Array rs9306515 176 10758 0.0163599 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.057 - - 2 - 0 N - - CERKL Leu188Phe L188F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - CERKL Leu232Phe L232F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 1 - 3 - - CERKL Asp81Ala D81A not reviewed Insufficiently evaluated not reviewed unknown Array rs61750041 1316 10744 0.122487 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.759 - - 5 Y 0 N - - CES1 Asp203Glu D203E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 10 - - CES1 Asp204Glu D204E not reviewed Insufficiently evaluated not reviewed unknown Array rs2307227 535 10758 0.0497304 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CES1 Arg186Pro R186P not reviewed Insufficiently evaluated not reviewed unknown Array rs2307241 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.441 - - 5 Y 1 N - - CES1 Arg187Pro R187P not reviewed Insufficiently evaluated not reviewed unknown Array rs60054861 409 10758 0.0380182 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CES1 Ser82Leu S82L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - CES1 Ser83Leu S83L not reviewed Insufficiently evaluated not reviewed unknown Array 3800 10758 0.353225 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CES1 Gly18Val G18V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - CES1 Gly19Val G19V not reviewed Insufficiently evaluated not reviewed unknown Array rs3826190 3821 10758 0.355178 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CES1 Ser12Ala S12A not reviewed Insufficiently evaluated not reviewed unknown Array rs12149366 47 10552 0.00445413 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CES2 Arg6His R6H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 7 - - CES3 Val129Ile V129I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745806 179 10758 0.0166388 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - CES3 Thr224Ile T224I not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - CES3 Arg367Trp R367W not reviewed Insufficiently evaluated not reviewed unknown Array rs61743167 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 7 Y 2 N - - CES7 Asp487Glu D487E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CES7 Asp537Glu D537E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CES7 His344Gln H344Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CES7 Glu261Lys E261K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CES7 Gln174Stop Q174X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CES7 Pro75Leu P75L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CES7 Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CES8 Ser98Thr S98T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CES8 Ser258Arg S258R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CETN1 Met72Thr M72T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734344 1763 10758 0.163878 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - CETN3 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array rs4873 2264 10742 0.210762 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CETP Ala15Gly A15G not reviewed Insufficiently evaluated not reviewed unknown Array rs34065661 245 10758 0.0227737 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.707 Y - 1 - 2 N - - CETP Ala390Pro A390P pathogenic Low clinical importance, Likely pathogenic undefined Array rs5880 418 10758 0.0388548 4 0 4 1 1 2 Y - - 4 Y 0 Y 3 Y 3 Y Y - - Y 0.992 Y - 2 - 5 N 3 0 1 This variant is associated with slightly lower HDL (good) cholesterol, although it has a negligible effect (around 2 mg/dl). CETP Val422Ile V422I not reviewed Insufficiently evaluated not reviewed unknown Array rs5882 6335 10758 0.588864 45 0 64 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - CFB Arg32Trp R32W not reviewed Insufficiently evaluated not reviewed unknown Array rs12614 20 128 0.15625 14 0 16 0 0 - - - - - - - - - - - - Y - - - 0.854 Y Y 7 Y 4 - 6 - - CFB Arg32Gln R32Q protective Moderate clinical importance, Likely protective dominant Array rs641153 15 128 0.117188 12 0 12 3 3 - - - - 5 Y - - 3 - 2 - Y Y - - 0.01 Y Y 0 - 4 Y 1 1 1 This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect. CFB Glu566Ala E566A not reviewed Insufficiently evaluated not reviewed unknown Array rs45484591 1 128 0.0078125 2 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - CFC1 Trp78Arg W78R not reviewed Insufficiently evaluated not reviewed unknown Array rs2579433 112 116 0.965517 45 0 90 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 - 2 - - CFC1B Trp78Arg W78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CFD Glu69Lys E69K not reviewed Insufficiently evaluated not reviewed unknown Array 51 8974 0.00568308 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - CFD Ile248Met I248M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230216 4 10600 0.000377358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.377 - - -1 - 2 - 4 - - CFH Val62Ile V62I protective Low clinical importance, Likely protective other Array rs800292 4213 10758 0.391616 38 0 58 1 1 1 Y - - 5 Y 0 Y 3 Y 2 - Y - - - - Y Y -4 - 3 - 10 0 1 Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. CFH His402Tyr H402Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1061170 6732 10758 0.625767 44 0 72 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 8 - - CFH Glu570Stop E570X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CFH Ser890Ile S890I not reviewed Insufficiently evaluated not reviewed unknown Array rs515299 729 10758 0.0677635 12 0 13 0 0 1 Y - - - - - - - - - - Y - - - 0.66 Y Y 5 Y 3 - 3 - - CFH Glu936Asp E936D not reviewed Insufficiently evaluated not reviewed unknown Array rs1065489 1493 10758 0.13878 15 0 17 0 0 - - - - - - - - - - - - Y - - - 0.504 Y Y -2 - 3 - 10 - - CFH Val1007Leu V1007L not reviewed Insufficiently evaluated not reviewed unknown Array rs534399 965 10758 0.0897007 16 0 19 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - CFHR1 His157Tyr H157Y not reviewed Insufficiently evaluated not reviewed unknown Array rs425757 2985 9792 0.304841 19 0 32 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CFHR1 Glu175Gln E175Q not reviewed Insufficiently evaluated not reviewed unknown Array rs388862 2596 9690 0.267905 24 0 43 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CFHR2 Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.161 - - 0 - 0 N - - CFHR2 Glu199Stop E199X not reviewed Insufficiently evaluated not reviewed unknown Array rs41257904 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - CFHR3 Ile8Met I8M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CFHR3 Arg142Cys R142C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CFHR3 Ile171Thr I171T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CFHR3 Lys174Asn K174N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CFHR3 Ala199Thr A199T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CFHR3 Pro241Ser P241S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CFHR3 Ile312Phe I312F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CFHR4 Val21Ala V21A not reviewed Insufficiently evaluated not reviewed unknown Array 78 9548 0.00816925 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CFHR4 Val61Leu V61L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CFHR4 Ile100Val I100V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CFHR4 Glu102Lys E102K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CFHR4 Tyr115His Y115H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CFHR4 Arg165Trp R165W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CFHR4 Gly306Glu G306E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - CFHR4 Leu314Ile L314I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CFHR5 Gly145Glu G145E not reviewed Insufficiently evaluated not reviewed unknown Array rs57960694 428 10750 0.039814 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 6 Y 2 N - - CFI Lys441Arg K441R not reviewed Insufficiently evaluated not reviewed unknown Array rs41278047 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -3 - 2 N - - CFI Thr300Ala T300A not reviewed Insufficiently evaluated not reviewed unknown Array rs11098044 9996 10358 0.965051 53 0 101 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - CFI Glu253Stop E253X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CFI Ser178Pro S178P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 3 - 3 - 1 - - CFTR Asn417Lys N417K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CFTR Thr438Ala T438A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CFTR Gly458Arg G458R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - CFTR Val470Met V470M not reviewed Insufficiently evaluated not reviewed unknown Array rs213950 6532 10758 0.607176 49 0 75 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 6 - - CFTR Ile556Val I556V benign Low clinical importance, Uncertain benign recessive Array 2 128 0.015625 2 0 2 1 1 1 Y 0 - 1 Y 0 - - - - - Y Y - - 0.051 Y Y -4 - 4 N 9 0 0 The variant was seen homozygously in an 6yo child in a family with a history of CF -- because the child was unaffected, authors concluded this is a benign polymorphism. CGB8 Asp137Ala D137A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - CGN Arg429Cys R429C not reviewed Insufficiently evaluated not reviewed unknown Array rs16833336 410 10756 0.0381183 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CGN Gln638Glu Q638E not reviewed Insufficiently evaluated not reviewed unknown Array rs12044926 372 10758 0.0345789 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CGN Arg717Trp R717W not reviewed Insufficiently evaluated not reviewed unknown Array rs34834099 479 10754 0.0445416 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CGNL1 His322Asp H322D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CGNL1 Thr380Pro T380P not reviewed Insufficiently evaluated not reviewed unknown Array rs1280395 10693 10758 0.993958 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CGNL1 Ser459Phe S459F not reviewed Insufficiently evaluated not reviewed unknown Array rs7182648 2259 10758 0.209983 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CGNL1 Thr511Ala T511A not reviewed Insufficiently evaluated not reviewed unknown Array rs1280396 9093 10758 0.845231 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CGNL1 Lys661Arg K661R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - CGNL1 Leu1101Val L1101V not reviewed Insufficiently evaluated not reviewed unknown Array rs1620402 3357 10758 0.312047 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CGNL1 Met1270Val M1270V not reviewed Insufficiently evaluated not reviewed unknown Array rs16977594 903 10758 0.0839375 11 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CGREF1 Gly144Arg G144R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753362 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CGRRF1 Cys117Tyr C117Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11555279 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.928 - - 6 Y 3 - 3 - - CHAC1 Met183Leu M183L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CHAC1 Met228Leu M228L not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.224 - - -3 - 1 N - - CHAD Arg321Leu R321L not reviewed Insufficiently evaluated not reviewed unknown Array rs34405131 84 10758 0.00780814 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - CHADL Asp721Asn D721N not reviewed Insufficiently evaluated not reviewed unknown Array rs9619954 154 3234 0.047619 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHADL Gln710Arg Q710R not reviewed Insufficiently evaluated not reviewed unknown Array rs9619955 153 3234 0.0473098 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.822 - - 0 - 1 N - - CHADL Glu365Lys E365K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 2 - 1 - - CHAF1A Met239Val M239V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230635 319 10758 0.0296524 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CHAF1A Arg797Gln R797Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45597332 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHAF1A Lys850Arg K850R not reviewed Insufficiently evaluated not reviewed unknown Array rs8100525 552 10758 0.0513107 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CHAF1A Ala923Val A923V not reviewed Insufficiently evaluated not reviewed unknown Array rs9352 5579 10754 0.518784 43 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CHAF1A Ser950Ala S950A not reviewed Insufficiently evaluated not reviewed unknown Array rs243383 10551 10742 0.982219 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CHAF1B Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array rs62229404 683 10758 0.0634876 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 1 - 1 - - CHAT Asp47Glu D47E not reviewed Insufficiently evaluated not reviewed unknown Array 14 9104 0.00153779 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 10 - - CHAT Asp7Asn D7N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 10 - - CHAT Ala120Thr A120T not reviewed Insufficiently evaluated not reviewed unknown Array rs3810950 1983 10758 0.184328 19 0 21 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 1 - 3 - 10 - - CHAT Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - CHAT Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 6 - - CHAT Leu340Phe L340F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CHAT Leu376Phe L376F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CHAT Leu458Phe L458F not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y 0 - 5 - 2 - - CHAT Val343Met V343M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CHAT Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CHAT Val461Met V461M not reviewed Insufficiently evaluated not reviewed unknown Array rs4838544 10337 10758 0.960866 56 0 107 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - CHAT Glu477Stop E477X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CHAT Glu513Stop E513X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CHAT Glu595Stop E595X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 2 Y 0 Y 0 Y 0 Y 3 - 4 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal 5.7% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing congenital myasthenic syndrome in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 523). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. CHCHD6 Ala95Ser A95S not reviewed Insufficiently evaluated not reviewed unknown Array rs2272487 2068 10758 0.192229 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - CHD1 Pro1684His P1684H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHD1L Arg25Pro R25P not reviewed Insufficiently evaluated not reviewed unknown Array rs11588753 763 10342 0.0737768 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.721 - - 5 Y 0 N - - CHD1L His350Gln H350Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17356233 1833 10758 0.170385 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 0 N - - CHD1L Glu649Ala E649A not reviewed Insufficiently evaluated not reviewed unknown Array rs13374920 268 10758 0.0249117 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.296 - - 3 - 2 - 3 - - CHD1L Ser743Cys S743C not reviewed Insufficiently evaluated not reviewed unknown Array rs2275249 726 10758 0.0674847 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 1 N - - CHD1L Ala885Ser A885S not reviewed Insufficiently evaluated not reviewed unknown Array rs4950394 10274 10758 0.95501 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CHD2 Lys1338Gln K1338Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.458 - - -2 - 1 N - - CHD2 Gly1574Ala G1574A not reviewed Insufficiently evaluated not reviewed unknown Array rs56227200 221 10758 0.0205429 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CHD3 Ala3Val A3V not reviewed Insufficiently evaluated not reviewed unknown Array rs931543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHD3 Leu1672Phe L1672F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD3 Leu1731Phe L1731F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD4 Glu139Asp E139D not reviewed Insufficiently evaluated not reviewed unknown Array rs1639122 5920 10716 0.552445 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CHD5 Ser1539Pro S1539P not reviewed Insufficiently evaluated not reviewed unknown Array rs2843493 6299 10758 0.585518 41 0 68 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CHD6 Glu2404Gln E2404Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61292917 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - CHD6 Ala2322Thr A2322T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHD6 His2161Gln H2161Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3817893 324 10758 0.0301171 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHD6 Thr1897Ala T1897A not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - CHD6 Asn1801Ser N1801S not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD6 Ser1654Phe S1654F not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - CHD6 Leu61Val L61V not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 1 - 1 - - CHD9 Ser134Pro S134P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHD9 Asp2312Glu D2312E not reviewed Insufficiently evaluated not reviewed unknown Array rs6499548 8274 9944 0.83206 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CHD9 Thr2760Ala T2760A not reviewed Insufficiently evaluated not reviewed unknown Array rs3743771 2369 9824 0.241144 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CHDH Leu78Arg L78R not reviewed Insufficiently evaluated not reviewed unknown Array rs12676 7762 9992 0.776821 28 0 51 0 0 - - - - - - - - - - - - - - - - 0.284 - - 6 Y 0 N - - CHDH Glu40Ala E40A not reviewed Insufficiently evaluated not reviewed unknown Array rs9001 1126 9330 0.120686 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 0 N - - CHEK1 Ile471Val I471V not reviewed Insufficiently evaluated not reviewed unknown Array rs506504 10469 10758 0.973136 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CHEK2 Ile419Ser I419S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - CHEK2 Ile448Ser I448S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - CHEK2 Ile491Ser I491S not reviewed Insufficiently evaluated not reviewed unknown Array rs17886163 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - CHEK2 Lys344Glu K344E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CHEK2 Lys373Glu K373E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CHEK2 Lys416Glu K416E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CHEK2 Arg180Cys R180C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 8 - - CHEK2 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - CHFR Pro534Ser P534S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Pro585Ser P585S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Pro614Ser P614S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Pro625Ser P625S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Pro626Ser P626S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CHFR Ser516Arg S516R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Ser567Arg S567R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Ser596Arg S596R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Ser607Arg S607R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHFR Ser608Arg S608R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - CHFR Val488Met V488M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHFR Val539Met V539M not reviewed Insufficiently evaluated not reviewed unknown Array rs2306536 23 126 0.18254 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CHFR Val568Met V568M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHFR Val579Met V579M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHFR Val580Met V580M not reviewed Insufficiently evaluated not reviewed unknown Array 2423 10758 0.225228 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CHFR Ala405Val A405V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHFR Ala456Val A456V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306541 37 124 0.298387 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CHFR Ala485Val A485V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHFR Ala496Val A496V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHFR Ala497Val A497V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306541 3006 10758 0.27942 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.688 - - 2 - 0 N - - CHFR Ala144Ser A144S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHFR Asn53Asp N53D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.22 - - -1 - 1 N - - CHGA Glu232Val E232V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHGA Glu264Asp E264D not reviewed Insufficiently evaluated not reviewed unknown Array rs9658655 1265 10758 0.117587 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CHGA Gly382Ser G382S not reviewed Insufficiently evaluated not reviewed unknown Array rs9658667 227 10714 0.0211872 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - CHGA Arg399Trp R399W not reviewed Insufficiently evaluated not reviewed unknown Array rs729940 1122 10652 0.105332 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 10 - - CHGB Ser93Thr S93T not reviewed Insufficiently evaluated not reviewed unknown Array rs6085324 2340 10758 0.217513 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.227 - - -2 - 0 N - - CHGB Lys117Asn K117N not reviewed Insufficiently evaluated not reviewed unknown Array rs236150 793 10756 0.0737263 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - CHGB Asp145Asn D145N not reviewed Insufficiently evaluated not reviewed unknown Array rs6133278 166 10758 0.0154304 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHGB Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs910122 3798 10758 0.35304 35 0 45 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CHGB Asn200His N200H not reviewed Insufficiently evaluated not reviewed unknown Array rs881118 1030 10758 0.0957427 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.947 - - 0 - 1 N - - CHGB Thr243Ala T243A not reviewed Insufficiently evaluated not reviewed unknown Array rs236151 8604 10758 0.799777 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CHGB Arg258Gln R258Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73894084 126 10758 0.0117122 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CHGB Ala353Gly A353G not reviewed Insufficiently evaluated not reviewed unknown Array rs236152 4885 10758 0.454081 43 0 58 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 1 N - - CHGB Pro413Leu P413L not reviewed Insufficiently evaluated not reviewed unknown Array rs742710 1164 10758 0.108199 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CHGB Arg417His R417H not reviewed Insufficiently evaluated not reviewed unknown Array rs742711 2327 10758 0.216304 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CHGB His445Tyr H445Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -1 - 0 N - - CHI3L1 Arg145Gly R145G not reviewed Insufficiently evaluated not reviewed unknown Array rs880633 4430 10758 0.411787 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.465 - - 6 Y 0 N - - CHI3L2 Ala103Val A103V not reviewed Insufficiently evaluated not reviewed unknown Array rs11556868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHI3L2 Ala172Val A172V not reviewed Insufficiently evaluated not reviewed unknown Array rs11556868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHI3L2 Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array rs11556868 1077 10756 0.10013 7 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - CHI3L2 Arg239Trp R239W not reviewed Insufficiently evaluated not reviewed unknown Array rs13721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHI3L2 Arg308Trp R308W not reviewed Insufficiently evaluated not reviewed unknown Array rs13721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHI3L2 Arg318Trp R318W not reviewed Insufficiently evaluated not reviewed unknown Array rs13721 13 128 0.101562 10 0 12 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - CHIA Asn45Asp N45D not reviewed Insufficiently evaluated not reviewed unknown Array rs41282492 1442 10338 0.139485 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CHIA Asp47Asn D47N not reviewed Insufficiently evaluated not reviewed unknown Array rs41282494 1432 10296 0.139083 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - CHIA Arg61Met R61M not reviewed Insufficiently evaluated not reviewed unknown Array rs41282496 1410 10158 0.138807 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CHIA Gly102Arg G102R not reviewed Insufficiently evaluated not reviewed unknown Array rs3818822 1183 9662 0.122438 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.942 - - 6 Y 1 N - - CHIA Lys125Arg K125R not reviewed Insufficiently evaluated not reviewed unknown Array rs61756687 1199 10758 0.111452 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CHIA Lys17Arg K17R not reviewed Insufficiently evaluated not reviewed unknown Array rs61756687 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CHIA Ile231Val I231V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275253 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHIA Ile339Val I339V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275253 7772 10758 0.722439 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CHIA Phe246Ser F246S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275254 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHIA Phe354Ser F354S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275254 5378 10758 0.499907 35 0 47 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 1 N - - CHIA Val324Gly V324G not reviewed Insufficiently evaluated not reviewed unknown Array rs2256721 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.919 - - 8 Y 2 N - - CHIA Val432Gly V432G not reviewed Insufficiently evaluated not reviewed unknown Array rs2256721 7754 10758 0.720766 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CHID1 Ala307Val A307V not reviewed Insufficiently evaluated not reviewed unknown Array rs6682 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHID1 Ala338Val A338V not reviewed Insufficiently evaluated not reviewed unknown Array rs6682 5165 10744 0.480733 36 0 49 0 0 - - - - - - - - - - - - - - - - 0.141 - - 2 - 0 N - - CHID1 Ala363Val A363V not reviewed Insufficiently evaluated not reviewed unknown Array rs6682 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHID1 Arg300Gln R300Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHID1 Arg331Gln R331Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1127800 681 10744 0.0633842 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - CHID1 Arg356Gln R356Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHID1 Ala26Pro A26P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - CHIT1 Ala442Gly A442G not reviewed Insufficiently evaluated not reviewed unknown Array rs1065761 1170 10758 0.108756 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 3 - - CHIT1 Thr255Ser T255S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745299 97 10758 0.00901654 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - -2 - 1 N - - CHIT1 Ser173Ala S173A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -1 - 1 N - - CHIT1 Gly102Ser G102S pathogenic Insufficiently evaluated pathogenic unknown Array rs2297950 3023 10758 0.281 31 0 35 1 1 - - - - - - - - - - - - Y Y - - 0.057 Y - 2 - 3 N 7 - - Associated with reduced enzyme activity, chitotriosidase deficiency. CHIT1 Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array rs35920428 104 10758 0.00966722 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.523 Y - 1 - 2 N - - CHKB Gln379Pro Q379P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.245 - - 4 Y 1 N - - CHL1 Leu17Phe L17F not reviewed Insufficiently evaluated not reviewed unknown Array rs2272522 3319 10756 0.308572 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CHL1 Arg199Ser R199S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CHL1 Ser235Leu S235L not reviewed Insufficiently evaluated not reviewed unknown Array rs73817633 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHL1 Thr303Ala T303A not reviewed Insufficiently evaluated not reviewed unknown Array rs13060847 8991 10758 0.83575 50 0 89 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CHL1 Gln640Arg Q640R not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHL1 Gly760Arg G760R not reviewed Insufficiently evaluated not reviewed unknown Array rs73105057 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHL1 Ile1050Val I1050V not reviewed Insufficiently evaluated not reviewed unknown Array rs6442827 10338 10758 0.960959 54 0 101 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CHM Leu80Phe L80F not reviewed Insufficiently evaluated not reviewed unknown Array rs55741408 93 8761 0.0106152 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.027 Y Y 0 - 3 - 3 - - CHML Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array rs41269377 238 10756 0.0221272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - CHMP1A Leu224Arg L224R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHMP1A Ala222Val A222V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - CHMP4A Gly196Arg G196R not reviewed Insufficiently evaluated not reviewed unknown Array rs2295322 52 126 0.412698 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CHMP4A Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2295320 11 126 0.0873016 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CHMP4C Ala232Thr A232T not reviewed Insufficiently evaluated not reviewed unknown Array rs35094336 569 10758 0.0528909 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.742 - - 1 - 0 N - - CHMP6 Gly55Ser G55S not reviewed Insufficiently evaluated not reviewed unknown Array 137 10294 0.0133087 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.909 - - 2 - 2 N - - CHMP7 Pro402Ser P402S not reviewed Insufficiently evaluated not reviewed unknown Array rs57918843 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.928 - - 3 - 2 N - - CHN2 Thr203Lys T203K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHN2 Thr67Lys T67K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHN2 His204Arg H204R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750103 910 10758 0.0845882 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - CHN2 His68Arg H68R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHORDC1 Ala310Asp A310D not reviewed Insufficiently evaluated not reviewed unknown Array rs1045861 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHORDC1 Ala329Asp A329D not reviewed Insufficiently evaluated not reviewed unknown Array rs1045861 6453 10756 0.599944 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CHP2 Arg127Pro R127P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - CHP2 Asp128Tyr D128Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHPF Arg730His R730H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHPF Ala650Gly A650G not reviewed Insufficiently evaluated not reviewed unknown Array rs62191582 204 10700 0.0190654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 1 N - - CHPF Gln371Arg Q371R not reviewed Insufficiently evaluated not reviewed unknown Array rs6436155 10523 10756 0.978338 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CHPT1 Phe161Leu F161L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CHPT1 Phe162Ser F162S not reviewed Insufficiently evaluated not reviewed unknown Array rs3205421 2484 10758 0.230898 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 1 N - - CHPT1 Phe341Leu F341L not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CHRAC1 His126Arg H126R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231524 423 10758 0.0393196 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRD Pro94Ser P94S not reviewed Insufficiently evaluated not reviewed unknown Array rs34095724 575 10750 0.0534884 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 3 - - CHRD Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9896 0.00010105 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHRD Gly387Ser G387S not reviewed Insufficiently evaluated not reviewed unknown Array rs34147749 192 10750 0.0178605 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CHRD Met630Leu M630L not reviewed Insufficiently evaluated not reviewed unknown Array rs16858780 2370 10758 0.220301 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.016 - - -3 - 0 N - - CHRDL1 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CHRDL1 Arg208His R208H not reviewed Insufficiently evaluated not reviewed unknown Array rs12688415 104 8761 0.0118708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CHRDL1 Arg209His R209H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CHRDL2 Ile226Val I226V not reviewed Insufficiently evaluated not reviewed unknown Array rs59876990 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHRDL2 Pro135Ser P135S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHRM2 Lys138Gln K138Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - CHRM3 Val65Ile V65I not reviewed Insufficiently evaluated not reviewed unknown Array rs2067481 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHRM5 Glu412Lys E412K not reviewed Insufficiently evaluated not reviewed unknown Array rs74007678 294 10758 0.0273285 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHRNA1 Asp358Val D358V not reviewed Insufficiently evaluated not reviewed unknown Array rs6739001 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CHRNA1 Asp383Val D383V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CHRNA1 Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CHRNA10 Ala336Pro A336P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 2 N - - CHRNA10 Pro291Leu P291L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CHRNA10 Pro47Leu P47L not reviewed Insufficiently evaluated not reviewed unknown Array rs57652919 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - CHRNA2 Thr125Ala T125A not reviewed Insufficiently evaluated not reviewed unknown Array rs891398 6235 10758 0.579569 48 0 76 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - CHRNA2 Thr22Ile T22I not reviewed Insufficiently evaluated not reviewed unknown Array rs2472553 1591 10758 0.14789 18 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 2 - - CHRNA3 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs8192475 389 10758 0.0361591 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - CHRNA5 Asp398Asn D398N pathogenic Insufficiently evaluated pathogenic unknown Array rs16969968 2675 10758 0.248652 18 0 21 1 1 1 Y - - - - - - - - - - - Y - Y 0.003 - - -1 - 2 N - - Associated with early onset addiction to nicotine and with susceptibility to lung cancer. CHRNA5 His462Gln H462Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - CHRNA9 Ala312Thr A312T not reviewed Insufficiently evaluated not reviewed unknown Array rs56210055 240 10758 0.022309 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.381 - - 1 - 1 N - - CHRNA9 Ala315Val A315V not reviewed Insufficiently evaluated not reviewed unknown Array rs55633891 1436 10758 0.133482 28 0 29 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CHRNA9 Asn381Lys N381K not reviewed Insufficiently evaluated not reviewed unknown Array rs57024876 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.067 - - 1 - 0 N - - CHRNA9 Asn442Ser N442S not reviewed Insufficiently evaluated not reviewed unknown Array rs10009228 8270 10758 0.76873 50 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CHRNB1 Glu32Gly E32G not reviewed Insufficiently evaluated not reviewed unknown Array rs17856697 2687 10744 0.250093 13 0 13 0 0 1 Y 1 - - - - - - - - - Y - - - 0.288 Y Y 6 Y 2 N - - CHRNB1 His198Arg H198R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 1 - 4 N - - CHRNB1 Arg242His R242H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 1 - 4 N - - CHRNB1 Ile420Thr I420T not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CHRNB4 Arg349Cys R349C not reviewed Insufficiently evaluated not reviewed unknown Array rs56235003 69 10758 0.00641383 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CHRNB4 Thr91Ile T91I not reviewed Insufficiently evaluated not reviewed unknown Array 330 10758 0.0306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.182 - - 3 - 1 - 7 - - CHRND Asn39Lys N39K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.874 Y Y 1 - 4 N - - CHRNG Ala149Thr A149T not reviewed Insufficiently evaluated not reviewed unknown Array rs2289080 191 10758 0.0177542 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CHRNG Val367Ala V367A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - CHRNG Pro506Ser P506S not reviewed Insufficiently evaluated not reviewed unknown Array rs71421651 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.403 Y - 3 - 2 N - - CHST10 Ser146Pro S146P not reviewed Insufficiently evaluated not reviewed unknown Array rs57227647 307 10758 0.0285369 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHST10 His2Pro H2P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 6 - - CHST12 Pro52His P52H not reviewed Insufficiently evaluated not reviewed unknown Array rs3735099 386 10750 0.035907 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - CHST12 Thr61Ser T61S not reviewed Insufficiently evaluated not reviewed unknown Array rs3735100 387 10756 0.0359799 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - CHST12 Arg109Ser R109S not reviewed Insufficiently evaluated not reviewed unknown Array rs17132395 309 10714 0.0288408 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 1 - 10 - - CHST12 Gly130Arg G130R not reviewed Insufficiently evaluated not reviewed unknown Array rs11537796 311 10758 0.0289087 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 5 - - CHST12 Ala145Pro A145P not reviewed Insufficiently evaluated not reviewed unknown Array rs17132399 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHST12 Ala210Gly A210G not reviewed Insufficiently evaluated not reviewed unknown Array rs73279322 76 10752 0.00706845 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - CHST13 Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array rs1056523 1822 10240 0.17793 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 1 N - - CHST13 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1056522 3173 9326 0.340232 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.951 - - 0 - 1 N - - CHST15 Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array rs34639461 251 10758 0.0233315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - CHST3 Arg357Gln R357Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3740129 2990 8332 0.358857 10 0 11 0 0 - - - - - - - - - - - - Y - - - 0.007 - - 0 - 1 - 2 - - CHST5 Thr318Met T318M not reviewed Insufficiently evaluated not reviewed unknown Array rs3826107 1830 10758 0.170106 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 1 N - - CHST5 Ala311Thr A311T not reviewed Insufficiently evaluated not reviewed unknown Array rs7206332 289 10758 0.0268637 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 1 - 2 - - CHST6 Arg265Cys R265C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 3 - 2 - - CHSY1 Arg705Gln R705Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62621399 1090 10758 0.10132 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.338 - - 0 - 0 N - - CHSY1 Pro359Ser P359S not reviewed Insufficiently evaluated not reviewed unknown Array rs3743193 1010 10758 0.0938836 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CHSY1 Lys351Arg K351R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CHSY1 Arg244Trp R244W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - CHSY3 Pro482Thr P482T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - CHSY3 Gly615Glu G615E not reviewed Insufficiently evaluated not reviewed unknown Array rs10068403 863 10756 0.0802343 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - CHSY3 Asp764Gly D764G not reviewed Insufficiently evaluated not reviewed unknown Array rs2015018 6532 10758 0.607176 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CHTF18 Gln82Pro Q82P not reviewed Insufficiently evaluated not reviewed unknown Array rs2277901 762 7646 0.0996599 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 1 - 2 - - CHTF18 Pro97Ser P97S not reviewed Insufficiently evaluated not reviewed unknown Array 26 9408 0.0027636 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - CHTF18 Lys244Arg K244R not reviewed Insufficiently evaluated not reviewed unknown Array rs3765263 3303 9784 0.337592 33 0 51 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CHTF18 Ala276Val A276V not reviewed Insufficiently evaluated not reviewed unknown Array rs59706474 634 10220 0.0620352 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CHTF18 Val741Leu V741L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10280 0.000389105 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CHTF18 Pro928Leu P928L not reviewed Insufficiently evaluated not reviewed unknown Array rs2294451 1529 9840 0.155386 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - CHUK Cys696Arg C696R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 8 Y 1 N - - CHUK Val268Ile V268I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230804 6276 10758 0.58338 48 0 65 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CHUK Val155Ala V155A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230803 12 10756 0.00111566 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 1 - 2 - - CIAO1 Ile244Val I244V not reviewed Insufficiently evaluated not reviewed unknown Array rs72937663 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIAO1 Leu247Phe L247F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - CIAPIN1 Gln52Glu Q52E not reviewed Insufficiently evaluated not reviewed unknown Array rs11557674 384 10018 0.038331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 1 - 3 - - CIAPIN1 Ala34Glu A34E not reviewed Insufficiently evaluated not reviewed unknown Array rs11557672 122 10014 0.0121829 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - CIB3 Gly139Ala G139A not reviewed Insufficiently evaluated not reviewed unknown Array rs6512087 7 128 0.0546875 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CIB3 Gly139Glu G139E not reviewed Insufficiently evaluated not reviewed unknown Array rs6512087 8173 10758 0.759714 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CIB4 His181Arg H181R not reviewed Insufficiently evaluated not reviewed unknown Array rs935172 5446 10758 0.506228 48 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CIDEA Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs7505615 2200 10192 0.215856 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CIDEA Val115Phe V115F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CIDEA Val149Phe V149F not reviewed Insufficiently evaluated not reviewed unknown Array rs45619832 3255 10758 0.302566 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CIDEC Tyr61His Y61H not reviewed Insufficiently evaluated not reviewed unknown Array 131 10590 0.0123702 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CIDEC Ser15Thr S15T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - -2 - 1 N - - CIITA Leu45Val L45V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229317 328 10758 0.0304889 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CIITA Arg174Gly R174G not reviewed Insufficiently evaluated not reviewed unknown Array rs8046121 10576 10758 0.983082 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CIITA Gly500Ala G500A not reviewed Insufficiently evaluated not reviewed unknown Array rs4774 3013 10758 0.280071 32 0 38 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CIITA Gln900Arg Q900R not reviewed Insufficiently evaluated not reviewed unknown Array rs7197779 9885 10758 0.918851 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CILP Gly1166Ser G1166S not reviewed Insufficiently evaluated not reviewed unknown Array rs938952 7895 10758 0.733872 44 0 76 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CILP Arg1094Gln R1094Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CILP Gln979Arg Q979R not reviewed Insufficiently evaluated not reviewed unknown Array rs2679117 10609 10758 0.98615 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CILP Tyr915Ser Y915S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - CILP Lys575Glu K575E not reviewed Insufficiently evaluated not reviewed unknown Array rs2679118 10611 10758 0.986336 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CILP Ile395Thr I395T pathogenic Insufficiently evaluated pathogenic unknown Array rs2073711 6800 10758 0.632088 48 0 67 2 2 5 Y - - - - - - - - - - - Y - - - - - 3 - 2 N - - Functional variant associated with lumbar disc disease (LDD) susceptibility in a study with Japanese subjects. A later study with two different ethnic cohorts suggests that this variant is not a major risk factor for LDD in Caucasians or in the general population. CILP2 Ala799Thr A799T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CINP Arg164His R164H not reviewed Insufficiently evaluated not reviewed unknown Array rs7011 2490 10758 0.231456 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - CINP Asn53Lys N53K not reviewed Insufficiently evaluated not reviewed unknown Array rs11544426 281 10758 0.0261201 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CIR Lys312Glu K312E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CIR Asp311Glu D311E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CIRH1A Arg636Cys R636C not reviewed Insufficiently evaluated not reviewed unknown Array rs61185783 314 10758 0.0291876 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.153 Y - 8 Y 1 N - - CISD3 Arg79Cys R79C not reviewed Insufficiently evaluated not reviewed unknown Array rs2879097 672 3234 0.207792 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CIT Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735296 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 1 - 3 - - CIT Gly7Glu G7E not reviewed Insufficiently evaluated not reviewed unknown Array 329 10758 0.0305819 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - CITED1 His122Gln H122Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3012627 7988 8756 0.912289 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CITED1 His96Gln H96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3012627 46 61 0.754098 31 0 58 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CITED4 Leu32Gln L32Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 1708 0.0298595 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 5 Y 1 N - - CIZ1 Arg767Gln R767Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CIZ1 Arg786Gln R786Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CIZ1 Arg791Gln R791Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CIZ1 Arg847Gln R847Q not reviewed Insufficiently evaluated not reviewed unknown Array 191 10618 0.0179883 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CIZ1 Val558Met V558M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - CIZ1 Val577Met V577M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - CIZ1 Val582Met V582M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - CIZ1 Val638Met V638M not reviewed Insufficiently evaluated not reviewed unknown Array rs11549266 1044 10758 0.0970441 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - CIZ1 Ala371Val A371V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CIZ1 Ala390Val A390V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CIZ1 Ala395Val A395V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - CIZ1 Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array rs57561786 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CIZ1 Glu346Gly E346G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CIZ1 Glu365Gly E365G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CIZ1 Glu370Gly E370G not reviewed Insufficiently evaluated not reviewed unknown Array 98 10750 0.00911628 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CIZ1 Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CIZ1 Arg305Gln R305Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIZ1 Arg310Gln R310Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIZ1 Ala195Thr A195T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CIZ1 Ala214Thr A214T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CIZ1 Ala219Thr A219T not reviewed Insufficiently evaluated not reviewed unknown Array rs45588035 635 10758 0.0590258 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CKAP2 Met235Lys M235K not reviewed Insufficiently evaluated not reviewed unknown Array rs35975899 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CKAP2 Met236Lys M236K not reviewed Insufficiently evaluated not reviewed unknown Array rs35975899 450 10758 0.0418293 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.489 - - 4 Y 1 N - - CKAP2 Ile322Val I322V not reviewed Insufficiently evaluated not reviewed unknown Array rs7335867 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CKAP2 Ile323Val I323V not reviewed Insufficiently evaluated not reviewed unknown Array rs7335867 10754 10758 0.999628 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CKAP2 Asn386Asp N386D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CKAP2 Asn387Asp N387D not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -1 - 0 N - - CKAP2 Met519Leu M519L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CKAP2 Met520Leu M520L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CKAP2 Met519Arg M519R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CKAP2 Met520Arg M520R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 4 Y 0 N - - CKAP2L Leu614Ser L614S not reviewed Insufficiently evaluated not reviewed unknown Array rs3811040 4021 10758 0.373768 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CKAP2L Ser519Gly S519G not reviewed Insufficiently evaluated not reviewed unknown Array rs36046436 175 10758 0.016267 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 1 - 1 - - CKAP2L Ile375Val I375V not reviewed Insufficiently evaluated not reviewed unknown Array rs6731822 10103 10758 0.939115 56 0 110 0 0 - - - - - - - - - - - - - - - - 0.071 - - -4 - 0 N - - CKAP2L Arg263Ser R263S not reviewed Insufficiently evaluated not reviewed unknown Array rs17042341 1014 10758 0.0942554 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CKAP2L Leu134Arg L134R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 6 Y 1 N - - CKAP2L Ser128Leu S128L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 6 Y 2 N - - CKAP2L Leu19Phe L19F not reviewed Insufficiently evaluated not reviewed unknown Array rs36093393 645 10756 0.0599665 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 1 N - - CKAP4 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs3088113 1148 10758 0.106711 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CKAP5 Asn1495Ser N1495S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CKAP5 Ser1138Cys S1138C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CKAP5 Glu840Asp E840D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CKB Met30Ile M30I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.575 - - -1 - 2 - 6 - - CLASP1 Ser617Pro S617P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10368 0.000192901 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLASP2 Lys905Stop K905X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLASP2 Asn344Ser N344S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLC Ser92Gly S92G not reviewed Insufficiently evaluated not reviewed unknown Array rs73559726 48 10758 0.0044618 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.746 - - 2 - 2 - 5 - - CLC Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array rs17608 7530 10758 0.699944 47 0 65 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 - 7 - - CLCA1 Leu65Phe L65F not reviewed Insufficiently evaluated not reviewed unknown Array rs2145412 9514 10758 0.884365 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLCA1 Asn357Ser N357S not reviewed Insufficiently evaluated not reviewed unknown Array rs2734705 9357 10758 0.869771 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLCA1 Met524Thr M524T not reviewed Insufficiently evaluated not reviewed unknown Array rs2791494 8617 10758 0.800985 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CLCA1 Val609Ile V609I not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLCA1 Thr637Ile T637I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.234 - - 3 - 1 N - - CLCA1 Asn682Lys N682K not reviewed Insufficiently evaluated not reviewed unknown Array rs41286590 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - CLCA2 Gln306Glu Q306E not reviewed Insufficiently evaluated not reviewed unknown Array rs17409304 3084 10758 0.28667 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.726 - - -2 - 0 N - - CLCA2 Gly534Asp G534D not reviewed Insufficiently evaluated not reviewed unknown Array rs1413426 1084 10758 0.100762 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 0 N - - CLCA4 Pro43Ser P43S not reviewed Insufficiently evaluated not reviewed unknown Array rs2231580 346 9488 0.0364671 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLCA4 Ser303Arg S303R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231592 205 9784 0.0209526 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLCA4 Val810Leu V810L not reviewed Insufficiently evaluated not reviewed unknown Array rs2231604 514 9560 0.0537657 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLCC1 Ser318Arg S318R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLCC1 Ser368Arg S368R not reviewed Insufficiently evaluated not reviewed unknown Array rs168107 3998 10758 0.37163 32 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CLCN1 Gly118Trp G118W not reviewed Insufficiently evaluated not reviewed unknown Array rs10282312 10577 10758 0.983175 55 0 107 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - CLCN1 Pro727Leu P727L not reviewed Insufficiently evaluated not reviewed unknown Array rs13438232 4563 10758 0.424149 36 0 47 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 6 - - CLCN2 Glu718Asp E718D not reviewed Insufficiently evaluated not reviewed unknown Array rs2228292 171 10752 0.015904 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 3 - 3 - - CLCN2 Arg688Gln R688Q not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 2 - 2 - - CLCN2 Thr668Ser T668S not reviewed Insufficiently evaluated not reviewed unknown Array rs9820367 6391 10758 0.59407 44 0 62 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 2 - - CLCN2 Pro417Leu P417L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CLCN2 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y - 0 - 5 N 1 - - Associated with juvenile myoclonic epilepsy CLCN3 His169Leu H169L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - CLCN6 Glu198Gly E198G not reviewed Insufficiently evaluated not reviewed unknown Array rs198400 10750 10758 0.999256 56 0 112 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 - 1 - - CLCN7 Val394Met V394M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CLCN7 Val418Met V418M not reviewed Insufficiently evaluated not reviewed unknown Array rs12926089 1343 10640 0.126222 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 10 - - CLCNKA Pro24His P24H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 5 Y 3 N - - CLCNKA Arg83Gly R83G not reviewed Insufficiently evaluated not reviewed unknown Array rs10927887 6454 10758 0.599926 47 0 71 0 0 1 Y - - - - - - - - - - Y - - - - Y - 6 Y 2 - 1 - - CLCNKA Tyr315Phe Y315F not reviewed Insufficiently evaluated not reviewed unknown Array rs12126269 2015 10756 0.187337 14 0 14 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - CLCNKA Leu334Val L334V not reviewed Insufficiently evaluated not reviewed unknown Array rs45588635 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CLCNKA His357Gln H357Q not reviewed Insufficiently evaluated not reviewed unknown Array 592 10742 0.0551108 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - CLCNKA Ala447Thr A447T not reviewed Insufficiently evaluated not reviewed unknown Array rs1805152 6448 10758 0.599368 48 0 74 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 9 - - CLCNKA Arg534Trp R534W not reviewed Insufficiently evaluated not reviewed unknown Array rs12140223 968 10752 0.0900298 3 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - CLCNKA Thr556Ala T556A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CLCNKA Pro682Leu P682L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CLCNKA Pro683Leu P683L not reviewed Insufficiently evaluated not reviewed unknown Array rs12746751 1081 10758 0.100483 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.927 Y - 7 Y 2 N - - CLCNKB Phe4Leu F4L not reviewed Insufficiently evaluated not reviewed unknown Array rs34851419 124 10754 0.0115306 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CLCNKB Arg27Leu R27L not reviewed Insufficiently evaluated not reviewed unknown Array rs2015352 5621 10754 0.522689 38 0 57 0 0 1 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - CLCNKB Ala214Gly A214G not reviewed Insufficiently evaluated not reviewed unknown Array rs71493533 6860 10758 0.637665 53 0 55 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - CLCNKB Ala287Val A287V not reviewed Insufficiently evaluated not reviewed unknown Array rs7367494 8678 10700 0.811028 53 0 91 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - CLCNKB Ile419Val I419V not reviewed Insufficiently evaluated not reviewed unknown Array rs6650118 1383 10758 0.128555 15 0 14 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 10 - - CLCNKB Thr481Ser T481S not reviewed Insufficiently evaluated not reviewed unknown Array rs12140311 1532 10754 0.142459 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 10 - - CLCNKB Met562Thr M562T not reviewed Insufficiently evaluated not reviewed unknown Array rs5253 9560 10754 0.888972 54 0 96 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - CLCNKB Lys578Glu K578E not reviewed Insufficiently evaluated not reviewed unknown Array rs2275166 7570 10758 0.703662 50 0 77 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - CLCNKB Cys626Tyr C626Y not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CLDN11 Ile96Leu I96L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - CLDN15 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - CLDN17 Ala82Thr A82T not reviewed Insufficiently evaluated not reviewed unknown Array rs35531957 10 128 0.078125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.936 - - 1 - 2 - 4 - - CLDN18 Met149Leu M149L not reviewed Insufficiently evaluated not reviewed unknown Array rs17204075 1163 10758 0.108106 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 1 N - - CLDN20 Gly94Glu G94E not reviewed Insufficiently evaluated not reviewed unknown Array rs34434986 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CLDN23 Val210Met V210M not reviewed Insufficiently evaluated not reviewed unknown Array rs12548737 759 9810 0.07737 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - CLDN23 Pro232Ser P232S not reviewed Insufficiently evaluated not reviewed unknown Array rs2280560 1869 9870 0.189362 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - CLDN3 Ile21Thr I21T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10752 0.00195312 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.861 - - 3 - 2 N - - CLDN3 Ile21Val I21V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10752 0.00213914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - CLDN4 Arg31Cys R31C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CLDN5 Gln37Stop Q37X not reviewed Insufficiently evaluated not reviewed unknown Array rs885985 1595 2872 0.555362 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CLDN6 Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs2257295 4111 10752 0.382347 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CLDN7 Val197Ala V197A not reviewed Insufficiently evaluated not reviewed unknown Array rs4562 7505 10758 0.69762 46 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CLDN8 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array rs73900962 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - CLDN8 Ser151Pro S151P not reviewed Insufficiently evaluated not reviewed unknown Array rs686364 4141 10758 0.384923 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CLDN8 Thr129Ala T129A not reviewed Insufficiently evaluated not reviewed unknown Array rs685967 903 10758 0.0839375 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.221 - - 1 - 0 N - - CLDN8 Leu100His L100H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 6 Y 1 N - - CLDN8 Met97Thr M97T not reviewed Insufficiently evaluated not reviewed unknown Array rs55884670 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - CLDN8 Ala94Val A94V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743791 156 10758 0.0145008 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.722 - - 2 - 1 N - - CLDND2 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array 338 10720 0.0315299 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - CLDND2 Leu91Pro L91P not reviewed Insufficiently evaluated not reviewed unknown Array 227 10746 0.0211241 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLEC10A Thr100Met T100M not reviewed Insufficiently evaluated not reviewed unknown Array rs35318160 244 10758 0.0226808 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC10A Arg73Lys R73K not reviewed Insufficiently evaluated not reviewed unknown Array rs16956478 583 10758 0.0541922 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.048 - - -3 - 0 N - - CLEC10A Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CLEC10A Cys35Arg C35R not reviewed Insufficiently evaluated not reviewed unknown Array rs90951 5586 10758 0.519242 24 0 37 0 0 - - - - - - - - - - - - - - - - 0.253 - - 8 Y 0 N - - CLEC11A Glu175Lys E175K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.572 - - 0 - 1 N - - CLEC12A Lys211Gln K211Q not reviewed Insufficiently evaluated not reviewed unknown Array rs479499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLEC12A Lys244Gln K244Q not reviewed Insufficiently evaluated not reviewed unknown Array rs479499 6820 10690 0.637979 51 0 78 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CLEC12B Thr6Asn T6N not reviewed Insufficiently evaluated not reviewed unknown Array rs1359082 4115 10758 0.382506 36 0 42 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 1 N - - CLEC12B Ala8Val A8V not reviewed Insufficiently evaluated not reviewed unknown Array rs1359083 281 10758 0.0261201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - CLEC12B Val116Leu V116L not reviewed Insufficiently evaluated not reviewed unknown Array rs637790 9777 10758 0.908812 52 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLEC14A Arg348Gln R348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60904056 204 10758 0.0189626 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - CLEC14A Gly209Arg G209R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - CLEC18A Leu100Pro L100P not reviewed Insufficiently evaluated not reviewed unknown Array 2712 10758 0.252091 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CLEC18A Val118Ala V118A not reviewed Insufficiently evaluated not reviewed unknown Array rs2549097 7754 10618 0.730269 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CLEC18A Thr151Met T151M not reviewed Insufficiently evaluated not reviewed unknown Array 2020 10754 0.187837 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - CLEC18B Asp430Asn D430N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - CLEC18B Ile360Thr I360T not reviewed Insufficiently evaluated not reviewed unknown Array 1004 3688 0.272234 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CLEC18B Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CLEC18B Thr173Ala T173A not reviewed Insufficiently evaluated not reviewed unknown Array 394 10758 0.0366239 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLEC1A Arg234Ser R234S not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CLEC1A Gly26Ala G26A not reviewed Insufficiently evaluated not reviewed unknown Array rs2306894 9536 10758 0.88641 50 0 91 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CLEC1B Gly31Asp G31D not reviewed Insufficiently evaluated not reviewed unknown Array rs583903 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLEC1B Gly64Asp G64D not reviewed Insufficiently evaluated not reviewed unknown Array rs583903 9410 9546 0.985753 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CLEC1B Ser28Phe S28F not reviewed Insufficiently evaluated not reviewed unknown Array rs2273987 738 10362 0.0712218 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.944 - - 5 Y 1 N - - CLEC1B Ser24Pro S24P not reviewed Insufficiently evaluated not reviewed unknown Array rs2273986 4508 10372 0.434632 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CLEC1B Ile20Val I20V not reviewed Insufficiently evaluated not reviewed unknown Array rs612593 9405 9530 0.986884 56 0 106 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - CLEC2A Gly136Asp G136D not reviewed Insufficiently evaluated not reviewed unknown Array rs526680 2054 3234 0.635127 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CLEC2D Asn19Lys N19K not reviewed Insufficiently evaluated not reviewed unknown Array rs16914640 2710 10758 0.251906 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - CLEC2D Leu23Val L23V not reviewed Insufficiently evaluated not reviewed unknown Array rs3764022 2835 10754 0.263623 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CLEC3A Lys50Stop K50X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLEC3A Lys50Asn K50N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 1 - 0 N - - CLEC3A Gln197Lys Q197K not reviewed Insufficiently evaluated not reviewed unknown Array rs2072663 1243 10756 0.115563 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - CLEC3B Gly106Ser G106S not reviewed Insufficiently evaluated not reviewed unknown Array rs13963 4291 10758 0.398866 51 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CLEC4A His36Leu H36L not reviewed Insufficiently evaluated not reviewed unknown Array rs2024301 6211 10756 0.577445 38 0 52 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - CLEC4A Ser115Phe S115F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CLEC4A Ser43Phe S43F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLEC4A Ser76Phe S76F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLEC4A Ser82Phe S82F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLEC4C Asn122Lys N122K not reviewed Insufficiently evaluated not reviewed unknown Array 195 10758 0.018126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 1 - 2 N - - CLEC4C Asn91Lys N91K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLEC4C Pro35Ser P35S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC4C Pro66Ser P66S not reviewed Insufficiently evaluated not reviewed unknown Array rs73056605 2416 10758 0.224577 17 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CLEC4D Ser32Gly S32G not reviewed Insufficiently evaluated not reviewed unknown Array rs4304840 3674 10758 0.341513 32 0 40 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - CLEC4E Gly148Asp G148D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.344 - - 4 Y 1 N - - CLEC4E Asp53Gly D53G not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - CLEC4F Ile586Val I586V not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - CLEC4F Lys564Arg K564R not reviewed Insufficiently evaluated not reviewed unknown Array rs2287101 1373 10758 0.127626 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CLEC4F Gly533Asp G533D not reviewed Insufficiently evaluated not reviewed unknown Array rs35001900 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - CLEC4F Val369Ala V369A not reviewed Insufficiently evaluated not reviewed unknown Array rs34318515 230 10758 0.0213794 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC4F Arg351His R351H not reviewed Insufficiently evaluated not reviewed unknown Array rs722896 2757 10758 0.256274 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CLEC4F Asp262Val D262V not reviewed Insufficiently evaluated not reviewed unknown Array 263 10758 0.0244469 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.157 - - 8 Y 0 N - - CLEC4F Thr235Met T235M not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC4F Asn146Ser N146S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754946 238 10758 0.0221231 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CLEC4F Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2075221 2954 10758 0.274586 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLEC4M Gln117Arg Q117R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Gln118Arg Q118R not reviewed Insufficiently evaluated not reviewed unknown Array 126 10752 0.0117188 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - CLEC4M Gln90Arg Q90R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Gln97Arg Q97R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Arg141Gln R141Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 8538 0.00269384 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - CLEC4M Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - CLEC4M Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CLEC4M Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CLEC4M Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 335 5466 0.061288 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - CLEC4M Arg159Gln R159Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array 49 10344 0.00473705 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CLEC4M Asp155Asn D155N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp199Asn D199N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp224Asn D224N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp240Asn D240N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp245Asn D245N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp263Asn D263N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp267Asn D267N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp268Asn D268N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC4M Asp291Asn D291N not reviewed Insufficiently evaluated not reviewed unknown Array rs2277998 2434 10758 0.22625 16 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CLEC6A Ile28Asn I28N not reviewed Insufficiently evaluated not reviewed unknown Array 195 10758 0.018126 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - CLEC7A Ser115Leu S115L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLEC7A Ser161Leu S161L not reviewed Insufficiently evaluated not reviewed unknown Array rs59819090 182 10756 0.0169208 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.731 - - 6 Y 1 N - - CLEC7A Ser82Leu S82L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLEC9A Ala107Gly A107G not reviewed Insufficiently evaluated not reviewed unknown Array rs11831360 79 10758 0.00734337 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CLECL1 His7Gln H7Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34201389 496 10758 0.0461052 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.944 - - -1 - 3 - 1 - - CLGN Glu539Stop E539X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLGN Arg352Trp R352W not reviewed Insufficiently evaluated not reviewed unknown Array rs12513290 743 10758 0.0690649 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 0 N - - CLGN Val290Ile V290I not reviewed Insufficiently evaluated not reviewed unknown Array rs2175563 658 10758 0.0611638 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - CLGN Ala160Ser A160S not reviewed Insufficiently evaluated not reviewed unknown Array rs2567241 647 10722 0.0603432 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CLIC3 Met210Leu M210L not reviewed Insufficiently evaluated not reviewed unknown Array rs3188722 230 10682 0.0215315 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CLIC5 Pro257His P257H not reviewed Insufficiently evaluated not reviewed unknown Array rs35822882 200 10758 0.0185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.915 - - 5 Y 3 - 4 - - CLIC5 Pro98His P98H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - CLIC5 Thr114Ala T114A not reviewed Insufficiently evaluated not reviewed unknown Array rs723580 148 3234 0.0457638 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 2 - - CLIC5 Arg79Ser R79S not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLIC6 Gln211Glu Q211E not reviewed Insufficiently evaluated not reviewed unknown Array 93 6316 0.0147245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLIC6 Ser269Gly S269G not reviewed Insufficiently evaluated not reviewed unknown Array rs13048804 413 5158 0.0800698 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - 2 - 0 N - - CLIC6 Gln298Glu Q298E not reviewed Insufficiently evaluated not reviewed unknown Array rs13049028 1140 7088 0.160835 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CLIC6 Ile651Val I651V not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLIP1 Asp1034Glu D1034E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLIP1 Asp1069Glu D1069E not reviewed Insufficiently evaluated not reviewed unknown Array rs1129167 4962 10758 0.461238 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CLIP1 Thr27Met T27M not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - CLIP2 Arg733Trp R733W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLIP2 Arg768Trp R768W not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 1 - 1 - - CLIP2 Arg942Pro R942P not reviewed Insufficiently evaluated not reviewed unknown Array rs2522943 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLIP2 Arg977Pro R977P not reviewed Insufficiently evaluated not reviewed unknown Array rs2522943 10565 10758 0.98206 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CLIP4 Arg486Leu R486L not reviewed Insufficiently evaluated not reviewed unknown Array rs3100246 1165 10758 0.108291 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.524 - - 6 Y 0 N - - CLK1 Asn99Asp N99D not reviewed Insufficiently evaluated not reviewed unknown Array rs6735666 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLK2 Lys254Ile K254I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLK2 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLK2 Arg19Ser R19S not reviewed Insufficiently evaluated not reviewed unknown Array rs12749700 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLK3 Ala113Thr A113T not reviewed Insufficiently evaluated not reviewed unknown Array 510 5148 0.0990676 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - CLLU1 Ser9Phe S9F not reviewed Insufficiently evaluated not reviewed unknown Array rs12580153 23 128 0.179688 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CLMN Pro963Leu P963L not reviewed Insufficiently evaluated not reviewed unknown Array rs10149705 128 10758 0.0118981 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.906 - - 7 Y 2 N - - CLMN Ile900Phe I900F not reviewed Insufficiently evaluated not reviewed unknown Array rs61750771 174 10758 0.016174 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - CLMN Arg517His R517H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CLMN Glu357Lys E357K not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CLN5 Arg2Cys R2C not reviewed Insufficiently evaluated not reviewed unknown Array rs77416795 926 8896 0.104092 15 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 1 - - CLN5 Lys368Arg K368R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800209 2040 10750 0.189767 25 0 33 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 1 - - CLN6 Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 30 3676 0.00816104 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CLOCK His542Arg H542R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 1 - 3 - 10 - - CLOCK Leu395Ile L395I not reviewed Insufficiently evaluated not reviewed unknown Array rs6855837 942 10756 0.087579 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - CLPB Arg295Thr R295T not reviewed Insufficiently evaluated not reviewed unknown Array rs7938203 228 10758 0.0211935 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLPP Gln187Lys Q187K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - -2 - 1 N - - CLPS Arg109Cys R109C not reviewed Insufficiently evaluated not reviewed unknown Array rs41270082 79 10758 0.00734337 1 0 1 2 2 - - - - - - - - - - - - - - - - 0.977 - - 8 Y 3 - 5 - - CLPS Arg55His R55H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 1 - - CLPTM1 Val423Ile V423I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - -4 - 0 N - - CLPX Ile488Thr I488T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 3 - 2 - - CLRN2 Leu113Val L113V not reviewed Insufficiently evaluated not reviewed unknown Array rs13147559 1023 10524 0.0972064 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CLRN3 Pro71Gln P71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35890579 397 10758 0.0369028 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - CLRN3 Ser61Gly S61G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - CLSPN Ser1280Leu S1280L not reviewed Insufficiently evaluated not reviewed unknown Array rs35490896 763 10758 0.070924 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CLSPN Asn525Ser N525S not reviewed Insufficiently evaluated not reviewed unknown Array rs7537203 3151 10758 0.292898 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLSPN Thr368Ile T368I not reviewed Insufficiently evaluated not reviewed unknown Array 47 10754 0.00437047 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLSPN Lys363Asn K363N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLSPN Gly6Asp G6D not reviewed Insufficiently evaluated not reviewed unknown Array rs61751002 391 10758 0.036345 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLSTN1 Gly537Arg G537R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CLSTN1 Gly547Arg G547R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CLSTN1 Ile378Val I378V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLSTN1 Ile388Val I388V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLSTN1 Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLSTN1 Ala332Thr A332T not reviewed Insufficiently evaluated not reviewed unknown Array rs7550295 1262 10756 0.11733 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CLSTN2 Arg28Gly R28G not reviewed Insufficiently evaluated not reviewed unknown Array 7 6146 0.00113895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLSTN2 Val366Ile V366I not reviewed Insufficiently evaluated not reviewed unknown Array rs7632885 6487 10758 0.602993 44 0 57 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CLTCL1 Ile1394Thr I1394T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 6 - - CLTCL1 Met1316Val M1316V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061325 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Asn1195Ser N1195S not reviewed Insufficiently evaluated not reviewed unknown Array rs807547 12 128 0.09375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - CLTCL1 Arg1046Cys R1046C not reviewed Insufficiently evaluated not reviewed unknown Array rs712952 12 128 0.09375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 - 6 - - CLTCL1 Leu1027Val L1027V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Asn1023Ile N1023I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLTCL1 Arg811Gln R811Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Glu691Lys E691K not reviewed Insufficiently evaluated not reviewed unknown Array rs1060374 14 128 0.109375 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLTCL1 Leu448Ile L448I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLTCL1 Tyr279Cys Y279C not reviewed Insufficiently evaluated not reviewed unknown Array rs807459 14 128 0.109375 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CLU Asp328Asn D328N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLU Asp380Asn D380N not reviewed Insufficiently evaluated not reviewed unknown Array rs9331938 146 10758 0.0135713 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLU Asn317His N317H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLU Asn369His N369H not reviewed Insufficiently evaluated not reviewed unknown Array rs9331936 743 10758 0.0690649 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLUAP1 Ala68Ser A68S not reviewed Insufficiently evaluated not reviewed unknown Array rs34115694 291 10758 0.0270496 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 1 - 1 - - CLUAP1 Ala107Val A107V not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - CLUAP1 Lys141Gln K141Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CLUAP1 Lys307Gln K307Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35603863 193 10758 0.0179401 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 1 - 1 - - CLUAP1 Arg166Leu R166L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLUAP1 Arg332Leu R332L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.458 - - 6 Y 1 N - - CLUAP1 Arg235Trp R235W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLUAP1 Arg401Trp R401W not reviewed Insufficiently evaluated not reviewed unknown Array rs9790 1567 10758 0.145659 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 1 N - - CLUL1 Glu121Gln E121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73943319 16 9574 0.00167119 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - -2 - 2 N - - CLYBL Ile241Val I241V not reviewed Insufficiently evaluated not reviewed unknown Array rs3783185 8232 10758 0.765198 52 0 91 0 0 - - - - - - - - - - - - - - - - 0.048 - - -4 - 0 N - - CMA1 Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 1 - 5 - - CMA1 His66Arg H66R not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 3 - 10 - - CMPK1 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array rs7543016 6113 10640 0.57453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CMPK1 Ala66Ser A66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CMPK1 Ala66Glu A66E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CMPK1 Gln80His Q80H not reviewed Insufficiently evaluated not reviewed unknown Array rs35687416 357 10758 0.0331846 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CMPK1 Asn115Ser N115S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMPK1 Asn66Ser N66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMPK2 Lys433Arg K433R not reviewed Insufficiently evaluated not reviewed unknown Array rs6712141 85 9748 0.00871974 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.074 - - -3 - 1 - 2 - - CMTM1 Glu107Lys E107K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMTM2 Ile122Thr I122T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290182 1786 10758 0.166016 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 0 N - - CMTM6 Thr91Ala T91A not reviewed Insufficiently evaluated not reviewed unknown Array rs35574803 198 10758 0.0184049 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CMYA5 Tyr64Cys Y64C not reviewed Insufficiently evaluated not reviewed unknown Array rs16877109 2089 9614 0.217287 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CMYA5 Lys166Arg K166R not reviewed Insufficiently evaluated not reviewed unknown Array rs72635618 39 9600 0.0040625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.683 - - -3 - 1 N - - CMYA5 Gly349Asp G349D not reviewed Insufficiently evaluated not reviewed unknown Array rs1366271 1846 10316 0.178945 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CMYA5 Gly591Asp G591D not reviewed Insufficiently evaluated not reviewed unknown Array rs16877124 2066 9828 0.210216 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CMYA5 Phe594Leu F594L not reviewed Insufficiently evaluated not reviewed unknown Array rs72635619 39 9818 0.0039723 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CMYA5 Ser651Arg S651R not reviewed Insufficiently evaluated not reviewed unknown Array rs57544556 2068 9876 0.209397 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CMYA5 Val1006Ala V1006A not reviewed Insufficiently evaluated not reviewed unknown Array rs6893869 2104 9808 0.214519 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 0 N - - CMYA5 Phe1038Leu F1038L not reviewed Insufficiently evaluated not reviewed unknown Array rs62621915 668 9822 0.0680106 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 0 N - - CMYA5 Ala1295Val A1295V not reviewed Insufficiently evaluated not reviewed unknown Array rs4704585 4738 9646 0.491188 42 0 66 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CMYA5 Ile1309Val I1309V not reviewed Insufficiently evaluated not reviewed unknown Array rs16877133 1104 9718 0.113604 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - CMYA5 Ala1333Val A1333V not reviewed Insufficiently evaluated not reviewed unknown Array rs16877135 1098 9690 0.113313 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CMYA5 Ile1380Val I1380V not reviewed Insufficiently evaluated not reviewed unknown Array rs13158477 1445 9624 0.150145 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CMYA5 Ala1567Glu A1567E not reviewed Insufficiently evaluated not reviewed unknown Array rs1428223 2075 9782 0.212124 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CMYA5 Ser1599Ala S1599A not reviewed Insufficiently evaluated not reviewed unknown Array rs1428224 2083 9702 0.214698 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 0 N - - CMYA5 Leu1669Ser L1669S not reviewed Insufficiently evaluated not reviewed unknown Array rs1019762 1428 9598 0.148781 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 1 N - - CMYA5 Ile1713Asn I1713N not reviewed Insufficiently evaluated not reviewed unknown Array rs16877141 1096 9632 0.113787 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.819 - - 7 Y 0 N - - CMYA5 Ile1721Val I1721V not reviewed Insufficiently evaluated not reviewed unknown Array rs1428225 2057 9618 0.21387 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CMYA5 Ala1875Val A1875V not reviewed Insufficiently evaluated not reviewed unknown Array rs16877147 604 9518 0.0634587 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.143 - - 2 - 0 N - - CMYA5 Asp1917Gly D1917G not reviewed Insufficiently evaluated not reviewed unknown Array rs16877150 615 9906 0.0620836 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - CMYA5 Ser1920Gly S1920G not reviewed Insufficiently evaluated not reviewed unknown Array rs16877151 2136 9904 0.21567 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CMYA5 Ala1961Thr A1961T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - CMYA5 Ala1961Gly A1961G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - 1 - 1 N - - CMYA5 Val1962Glu V1962E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 1 N - - CMYA5 Glu2017Gly E2017G not reviewed Insufficiently evaluated not reviewed unknown Array rs73773429 112 9584 0.0116861 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - CMYA5 Val2262Leu V2262L not reviewed Insufficiently evaluated not reviewed unknown Array rs6859595 1944 9424 0.206282 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - CMYA5 Lys2383Glu K2383E not reviewed Insufficiently evaluated not reviewed unknown Array rs7721884 118 9726 0.0121324 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 3 - 1 - - CMYA5 Met2601Thr M2601T not reviewed Insufficiently evaluated not reviewed unknown Array rs73773430 113 9650 0.0117098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 2 - 0 N - - CMYA5 Thr2693Ile T2693I not reviewed Insufficiently evaluated not reviewed unknown Array rs28362541 1102 9566 0.1152 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CMYA5 Arg2708His R2708H not reviewed Insufficiently evaluated not reviewed unknown Array rs28362542 1102 9502 0.115976 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CMYA5 Lys2906Asn K2906N not reviewed Insufficiently evaluated not reviewed unknown Array rs2278239 1997 9634 0.207287 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CMYA5 His3358Gln H3358Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3828611 1206 10312 0.116951 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CMYA5 Arg3927Gln R3927Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1129770 1555 10240 0.151855 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNBD1 Asp64Asn D64N not reviewed Insufficiently evaluated not reviewed unknown Array rs10504829 263 9596 0.0274073 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - CNDP1 Gly6Arg G6R not reviewed Insufficiently evaluated not reviewed unknown Array rs11151964 1394 10758 0.129578 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CNDP1 Arg22His R22H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.311 - - 1 - 2 - 1 - - CNDP1 Pro112Leu P112L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.85 - - 7 Y 2 N - - CNDP1 Ile113Val I113V not reviewed Insufficiently evaluated not reviewed unknown Array rs4263028 10572 10758 0.982711 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CNDP1 His270Asn H270N not reviewed Insufficiently evaluated not reviewed unknown Array rs73973908 1688 10758 0.156906 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - CNDP1 Asp316Asn D316N not reviewed Insufficiently evaluated not reviewed unknown Array rs62621182 507 10758 0.0471277 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - CNDP1 Pro417Ser P417S not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.684 - - 3 - 1 N - - CNDP2 Tyr126His Y126H not reviewed Insufficiently evaluated not reviewed unknown Array rs2278161 1993 10758 0.185257 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CNDP2 Arg180Gln R180Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34916325 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNGA1 Asp118Asn D118N not reviewed Insufficiently evaluated not reviewed unknown Array rs28642966 22 126 0.174603 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - CNGA1 Asp187Asn D187N not reviewed Insufficiently evaluated not reviewed unknown Array 1110 9158 0.121206 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - CNGA1 Gly106Stop G106X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CNGA1 Gly37Stop G37X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CNGA1 Ser3Phe S3F not reviewed Insufficiently evaluated not reviewed unknown Array rs7693648 3 0 6 0 0 - Y - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - CNGA2 Trp139Leu W139L not reviewed Insufficiently evaluated not reviewed unknown Array rs35350051 900 8761 0.102728 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.013 - - 5 Y 0 N - - CNGA2 Glu663Lys E663K not reviewed Insufficiently evaluated not reviewed unknown Array rs714147 1467 8732 0.168003 13 0 20 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CNGA3 Arg75Cys R75C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y 8 Y 4 N - - CNGA3 Leu246Ile L246I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - CNGA3 Leu264Ile L264I not reviewed Insufficiently evaluated not reviewed unknown Array rs73964088 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 2 N - - CNGA4 Arg389Gln R389Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745230 358 10758 0.0332776 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.601 - - 0 - 1 N - - CNGA4 Met541Arg M541R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746457 208 10758 0.0193344 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - CNGB1 Pro1186Ser P1186S not reviewed Insufficiently evaluated not reviewed unknown Array rs7190372 206 9294 0.0221648 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CNGB1 Pro1176Leu P1176L not reviewed Insufficiently evaluated not reviewed unknown Array rs73562944 111 9862 0.0112553 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CNGB1 Ala961Val A961V not reviewed Insufficiently evaluated not reviewed unknown Array 453 10290 0.0440233 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CNGB1 Val952Met V952M not reviewed Insufficiently evaluated not reviewed unknown Array 235 10348 0.0227097 2 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CNGB1 Lys911Arg K911R not reviewed Insufficiently evaluated not reviewed unknown Array rs2303785 845 10344 0.0816899 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 1 N - - CNGB1 Leu745Ile L745I not reviewed Insufficiently evaluated not reviewed unknown Array rs10459809 1354 9926 0.136409 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - CNGB1 Val535Ala V535A not reviewed Insufficiently evaluated not reviewed unknown Array rs12927214 620 10056 0.0616547 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - CNGB1 Ala527Val A527V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10178 0.00275103 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CNGB1 Gly238Ser G238S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745888 148 9928 0.0149073 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - CNGB1 Leu147Arg L147R not reviewed Insufficiently evaluated not reviewed unknown Array rs61997173 326 10216 0.0319107 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CNGB1 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array rs13336595 7832 10340 0.757447 52 0 76 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - CNGB1 Arg86Gln R86Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8055343 321 9768 0.0328624 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CNGB1 Glu47Lys E47K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CNGB3 Val770Leu V770L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - CNGB3 Glu755Gly E755G not reviewed Insufficiently evaluated not reviewed unknown Array rs3735972 890 10758 0.0827291 9 0 9 0 0 - - - - - - - - - - - - Y - - - 0.11 Y Y 6 Y 3 - 2 - - CNGB3 Arg480Gln R480Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.905 Y Y 0 - 4 N - - CNGB3 Ile307Val I307V not reviewed Insufficiently evaluated not reviewed unknown Array rs13265557 616 10754 0.057281 12 0 12 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 3 - 1 - - CNGB3 Thr298Pro T298P not reviewed Insufficiently evaluated not reviewed unknown Array rs4961206 6911 10752 0.642764 52 0 69 0 0 3 Y - - - - - - - - - - Y - - - 0.007 Y Y 4 Y 3 - 5 - - CNGB3 Cys234Trp C234W not reviewed Insufficiently evaluated not reviewed unknown Array rs6471482 9465 10758 0.87981 54 0 102 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 2 - - CNGB3 Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16916632 559 10758 0.0519613 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 0 - 3 - 1 - - CNIH2 Leu77Phe L77F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNKSR1 Gln498Stop Q498X not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CNKSR1 Arg655Trp R655W not reviewed Insufficiently evaluated not reviewed unknown Array rs17163640 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 2 - - CNKSR1 His687Asn H687N not reviewed Insufficiently evaluated not reviewed unknown Array rs1045105 1274 10758 0.118423 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNN2 Lys195Arg K195R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CNN2 Lys234Arg K234R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10662 0.00131307 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -3 - 1 N - - CNN2 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10446 0.00019146 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 0 - 2 N - - CNN2 Arg266Gln R266Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - CNN2 Pro232His P232H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CNN2 Pro271His P271H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 5 Y 2 N - - CNNM1 Arg819Gln R819Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2298316 834 10758 0.0775237 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNNM2 Glu124Gly E124G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNNM2 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - CNNM3 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array 3 452 0.00663717 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.513 - - 2 - 1 N - - CNOT1 His1778Gln H1778Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.154 - - -1 - 0 N - - CNOT1 Cys1539Trp C1539W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNOT1 Cys1539Phe C1539F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CNOT1 Pro1128Ser P1128S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.684 - - 3 - 1 N - - CNOT3 Pro472Ser P472S not reviewed Insufficiently evaluated not reviewed unknown Array rs34757542 204 10752 0.0189732 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CNOT4 Ser314Leu S314L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNOT4 Leu280Val L280V not reviewed Insufficiently evaluated not reviewed unknown Array rs77841106 768 9454 0.0812355 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNOT4 Ala7Gly A7G not reviewed Insufficiently evaluated not reviewed unknown Array rs17480616 196 9704 0.0201979 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - CNOT6 Val548Ile V548I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CNOT7 Met82Ile M82I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.759 - - -1 - 1 N - - CNOT7 Ile51Thr I51T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - CNPY3 Ser231Ile S231I not reviewed Insufficiently evaluated not reviewed unknown Array rs9471969 3002 10756 0.2791 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - CNPY4 Pro35Arg P35R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CNPY4 Gly168Arg G168R not reviewed Insufficiently evaluated not reviewed unknown Array rs60551236 281 10758 0.0261201 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.712 - - 6 Y 2 - 2 - - CNR2 His316Tyr H316Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2229579 790 10758 0.0734337 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.44 - - -1 - 0 N - - CNR2 Gln63Arg Q63R not reviewed Insufficiently evaluated not reviewed unknown Array rs35761398 6515 10758 0.605596 47 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNTD1 Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61995868 1236 10758 0.114891 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - CNTF Leu23Pro L23P not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 2 - 1 - - CNTF His182Arg H182R not reviewed Insufficiently evaluated not reviewed unknown Array rs6266 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 3 - 8 - - CNTLN Arg66Trp R66W not reviewed Insufficiently evaluated not reviewed unknown Array rs2774619 474 9724 0.0487454 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - CNTLN Thr284Ala T284A not reviewed Insufficiently evaluated not reviewed unknown Array rs3808795 2676 9422 0.284016 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CNTLN Glu291Asp E291D not reviewed Insufficiently evaluated not reviewed unknown Array rs3808794 258 9466 0.0272554 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - CNTLN Asp553Glu D553E not reviewed Insufficiently evaluated not reviewed unknown Array rs61735057 174 9682 0.0179715 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - CNTLN Arg562Cys R562C not reviewed Insufficiently evaluated not reviewed unknown Array rs3808782 581 9768 0.0594799 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 1 N - - CNTLN Thr695Ile T695I not reviewed Insufficiently evaluated not reviewed unknown Array rs7035276 7641 9326 0.819322 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CNTLN Gln953Arg Q953R not reviewed Insufficiently evaluated not reviewed unknown Array 32 9442 0.00338911 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - CNTLN Ile1349Met I1349M not reviewed Insufficiently evaluated not reviewed unknown Array rs62639687 431 9402 0.0458413 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 2 N - - CNTN2 Met1Arg M1R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - CNTN2 Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array rs2275697 1645 10758 0.152909 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CNTN2 Pro366Leu P366L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229866 3652 10750 0.339721 32 0 42 0 0 - - - - - - - - - - - - - - - - 0.123 - - 7 Y 0 N - - CNTN3 Asn708Ser N708S not reviewed Insufficiently evaluated not reviewed unknown Array rs626578 757 10758 0.0703662 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNTN3 Lys246Glu K246E not reviewed Insufficiently evaluated not reviewed unknown Array rs62620465 730 10754 0.0678817 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CNTN4 Gly221Asp G221D not reviewed Insufficiently evaluated not reviewed unknown Array 39 9724 0.0040107 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 4 Y 2 N - - CNTN5 Ser23Ala S23A not reviewed Insufficiently evaluated not reviewed unknown Array rs10790978 4901 9522 0.514703 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CNTN5 Leu70Arg L70R not reviewed Insufficiently evaluated not reviewed unknown Array rs7125822 12 78 0.153846 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CNTN5 Asn81Ser N81S not reviewed Insufficiently evaluated not reviewed unknown Array rs10893933 2394 9632 0.248547 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CNTN5 Ile456Val I456V not reviewed Insufficiently evaluated not reviewed unknown Array rs11223168 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CNTN5 Ile530Val I530V not reviewed Insufficiently evaluated not reviewed unknown Array rs11223168 896 9458 0.0947346 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CNTN5 Ser1005Thr S1005T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNTN5 Ser1079Thr S1079T not reviewed Insufficiently evaluated not reviewed unknown Array rs1216183 2069 10042 0.206035 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CNTN6 Leu22Phe L22F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTN6 Asn782Tyr N782Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CNTN6 Ser790Thr S790T not reviewed Insufficiently evaluated not reviewed unknown Array rs73095001 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - CNTNAP1 Thr299Ser T299S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - CNTNAP1 Val522Leu V522L not reviewed Insufficiently evaluated not reviewed unknown Array rs35437096 467 10758 0.0434096 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 3 - - CNTNAP2 Arg790His R790H not reviewed Insufficiently evaluated not reviewed unknown Array rs73464271 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CNTNAP3 Arg845His R845H not reviewed Insufficiently evaluated not reviewed unknown Array rs7852039 1839 10758 0.170943 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CNTNAP3 Ser711Tyr S711Y not reviewed Insufficiently evaluated not reviewed unknown Array 7713 10664 0.723275 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CNTNAP4 Cys275Trp C275W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - CNTNAP4 Leu251Val L251V not reviewed Insufficiently evaluated not reviewed unknown Array rs34251012 371 10758 0.034486 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CNTNAP4 Gln416Arg Q416R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTNAP4 Phe428Tyr F428Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CNTNAP4 Leu501Met L501M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CNTNAP4 Gln440His Q440H not reviewed Insufficiently evaluated not reviewed unknown Array rs6564343 298 10758 0.0277003 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - CNTNAP4 Arg513Thr R513T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - CNTNAP4 Arg716His R716H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNTNAP4 Gln713Arg Q713R not reviewed Insufficiently evaluated not reviewed unknown Array rs12933808 8680 10310 0.841901 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNTNAP4 Arg786Gly R786G not reviewed Insufficiently evaluated not reviewed unknown Array rs12933808 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNTNAP4 Ile763Phe I763F not reviewed Insufficiently evaluated not reviewed unknown Array 86 9466 0.00908515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CNTNAP4 Asp1082Glu D1082E not reviewed Insufficiently evaluated not reviewed unknown Array rs7202925 3001 9996 0.30022 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CNTNAP4 Ile1155Arg I1155R not reviewed Insufficiently evaluated not reviewed unknown Array rs7202925 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNTNAP4 Leu1198Pro L1198P not reviewed Insufficiently evaluated not reviewed unknown Array rs7184958 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNTNAP4 Gln1276Arg Q1276R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTROB Pro578Gln P578Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11650083 4964 10758 0.461424 47 0 63 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - COASY His40Tyr H40Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.51 - - -1 - 1 N - - COASY His69Tyr H69Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COASY Ser55Tyr S55Y not reviewed Insufficiently evaluated not reviewed unknown Array rs615942 67 126 0.531746 39 0 58 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 0 N - - COASY Ser84Tyr S84Y not reviewed Insufficiently evaluated not reviewed unknown Array rs615942 5432 10750 0.505302 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COASY Glu113Lys E113K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COASY Glu408Lys E408K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - COASY Glu437Lys E437K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COBL His1160Tyr H1160Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61737954 626 10758 0.0581893 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - COBL Leu1109Met L1109M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.839 - - -3 - 1 N - - COBL Ala1015Pro A1015P not reviewed Insufficiently evaluated not reviewed unknown Array rs17134127 482 10758 0.0448039 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - COBL Asp927Asn D927N not reviewed Insufficiently evaluated not reviewed unknown Array rs17134128 480 10758 0.044618 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.075 - - -1 - 0 N - - COBL His919Gln H919Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2240089 1632 10758 0.151701 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 1 N - - COBL Val607Ile V607I not reviewed Insufficiently evaluated not reviewed unknown Array rs2240090 7259 10758 0.674754 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - COBL Asp577Ala D577A not reviewed Insufficiently evaluated not reviewed unknown Array rs10230120 10421 10758 0.968674 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COBL Glu481Asp E481D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - -2 - 0 N - - COBL Glu480Asp E480D not reviewed Insufficiently evaluated not reviewed unknown Array rs58682836 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - COBL His130Tyr H130Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - -1 - 2 N - - COBL Leu127Arg L127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 6 Y 2 - 1 - - COBLL1 Gly1165Arg G1165R not reviewed Insufficiently evaluated not reviewed unknown Array rs73968220 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COBLL1 Asn939Asp N939D not reviewed Insufficiently evaluated not reviewed unknown Array rs7607980 1444 10758 0.134226 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - COBLL1 Thr871Ile T871I not reviewed Insufficiently evaluated not reviewed unknown Array rs17244632 1105 10758 0.102714 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COBLL1 Tyr793Cys Y793C not reviewed Insufficiently evaluated not reviewed unknown Array rs73013650 127 10756 0.0118074 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COBLL1 Val327Met V327M not reviewed Insufficiently evaluated not reviewed unknown Array rs74459242 370 10758 0.034393 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COBLL1 Arg267Ser R267S not reviewed Insufficiently evaluated not reviewed unknown Array rs73013687 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COBLL1 Asp10Val D10V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - COBRA1 Ala504Val A504V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COCH Thr352Ser T352S not reviewed Insufficiently evaluated not reviewed unknown Array rs1045644 5479 10758 0.509295 34 0 44 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 1 - - COCH Glu518Gly E518G not reviewed Insufficiently evaluated not reviewed unknown Array rs17097468 75 10758 0.00697156 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.738 Y - 6 Y 2 N - - COG1 Asn392Ser N392S not reviewed Insufficiently evaluated not reviewed unknown Array rs1026128 5702 10758 0.530024 45 0 67 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COG1 Tyr744Cys Y744C not reviewed Insufficiently evaluated not reviewed unknown Array rs7208207 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - COG2 Asn270Ser N270S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - COG2 Asn304Lys N304K not reviewed Insufficiently evaluated not reviewed unknown Array rs6681346 743 10758 0.0690649 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - COG2 Ile346Val I346V not reviewed Insufficiently evaluated not reviewed unknown Array rs11558606 589 10758 0.05475 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - COG3 Gln161Arg Q161R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - COG3 Asn747Ser N747S not reviewed Insufficiently evaluated not reviewed unknown Array rs2274285 7124 10758 0.662205 41 0 67 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - COG3 Leu825Ser L825S not reviewed Insufficiently evaluated not reviewed unknown Array rs3014902 10718 10740 0.997952 47 0 51 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - COG4 Thr162Ile T162I not reviewed Insufficiently evaluated not reviewed unknown Array rs3931036 10272 10758 0.954824 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COG5 Glu471Val E471V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - COG5 Ile365Val I365V not reviewed Insufficiently evaluated not reviewed unknown Array rs34087251 687 10748 0.0639189 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - COG5 Phe330Leu F330L not reviewed Insufficiently evaluated not reviewed unknown Array rs2269970 7105 10758 0.660439 46 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COG5 Ile182Val I182V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.173 - - -4 - 0 N - - COG5 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array rs73419464 301 10748 0.0280052 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COG6 Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array rs3812882 4718 10628 0.443922 34 0 48 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - COG6 Cys32Ser C32S not reviewed Insufficiently evaluated not reviewed unknown Array rs3812883 4459 10738 0.415254 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COG6 His300Tyr H300Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34555836 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.811 - - -1 - 1 N - - COG7 Thr605Met T605M not reviewed Insufficiently evaluated not reviewed unknown Array rs16940094 777 10758 0.0722253 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.346 Y Y 2 - 3 - 1 - - COIL Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731978 977 10758 0.0908161 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - COL10A1 Gly545Arg G545R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228547 1742 10758 0.161926 18 0 18 0 0 - - - - - - - - - - - - Y - - - 0.774 Y - 6 Y 2 - 2 - - COL10A1 Met27Thr M27T not reviewed Insufficiently evaluated not reviewed unknown Array rs1064583 5374 10758 0.499535 37 0 52 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - COL11A1 Ser1496Pro S1496P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 1 0 2 1 1 2 Y - - - - - - - - - - Y - - Y - Y Y 3 - 4 N - - COL11A1 Ser1535Pro S1535P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.002 Y Y 3 - 2 N - - COL11A1 Ser1547Pro S1547P not reviewed Insufficiently evaluated not reviewed unknown Array rs1676486 8671 10758 0.806005 51 0 85 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - COL11A1 Asp1433Glu D1433E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL11A1 Asp1472Glu D1472E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL11A1 Asp1484Glu D1484E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL11A1 Pro1284Leu P1284L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A1 Pro1323Leu P1323L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A1 Pro1335Leu P1335L not reviewed Insufficiently evaluated not reviewed unknown Array rs3753841 4821 10758 0.448132 33 0 42 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - COL11A1 Lys276Asn K276N not reviewed Insufficiently evaluated not reviewed unknown Array rs12731843 859 10754 0.0798773 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - COL11A2 Arg1493Gln R1493Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL11A2 Arg1514Gln R1514Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL11A2 Arg1600Gln R1600Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - COL11A2 Pro1209Thr P1209T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL11A2 Pro1230Thr P1230T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL11A2 Pro1316Thr P1316T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229784 343 7524 0.0455875 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 1 - - COL11A2 Pro787Leu P787L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A2 Pro808Leu P808L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A2 Pro894Leu P894L not reviewed Insufficiently evaluated not reviewed unknown Array rs2855430 1028 10746 0.0956635 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 7 Y 3 N - - COL11A2 Pro610Ser P610S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL11A2 Pro631Ser P631S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL11A2 Pro717Ser P717S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - COL11A2 Glu276Lys E276K not reviewed Insufficiently evaluated not reviewed unknown Array rs9277934 2520 7520 0.335106 27 0 32 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 0 - 3 - 1 - - COL12A1 Gly1894Ser G1894S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL12A1 Gly3058Ser G3058S not reviewed Insufficiently evaluated not reviewed unknown Array rs970547 7313 9804 0.74592 53 0 85 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 1 N - - COL12A1 Gln1884His Q1884H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - COL12A1 Gln3048His Q3048H not reviewed Insufficiently evaluated not reviewed unknown Array rs57396313 1 9798 0.000102061 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 3 - 2 - - COL12A1 Ile1432Val I1432V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COL12A1 Ile2596Val I2596V not reviewed Insufficiently evaluated not reviewed unknown Array rs35710072 482 9488 0.050801 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.154 - - -4 - 0 N - - COL12A1 Arg2021Gln R2021Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34438461 40 10100 0.0039604 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 1 - 2 - - COL12A1 Arg857Gln R857Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - COL12A1 Ile1738Thr I1738T not reviewed Insufficiently evaluated not reviewed unknown Array rs240736 2824 9842 0.286934 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COL12A1 Ile574Thr I574T not reviewed Insufficiently evaluated not reviewed unknown Array rs240736 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL12A1 Leu1552Phe L1552F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - COL12A1 Leu388Phe L388F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL12A1 Asp1551Glu D1551E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - COL12A1 Asp387Glu D387E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL12A1 Asp1551Gly D1551G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.91 - - 4 Y 2 N - - COL12A1 Asp387Gly D387G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL12A1 Asp1551Asn D1551N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.825 - - -1 - 1 N - - COL12A1 Asp387Asn D387N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL12A1 Arg1027His R1027H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - COL12A1 Lys209Thr K209T not reviewed Insufficiently evaluated not reviewed unknown Array 231 9474 0.0243825 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - COL13A1 Pro120Ser P120S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9920 0.000302419 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - COL14A1 Asn563His N563H not reviewed Insufficiently evaluated not reviewed unknown Array rs4870723 5574 10758 0.518126 46 0 66 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - COL14A1 Thr636Ala T636A not reviewed Insufficiently evaluated not reviewed unknown Array rs56815167 2 10756 0.000185942 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.056 - - 1 - 1 - 2 - - COL14A1 Gly686Ser G686S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - COL14A1 Arg844Trp R844W not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - COL14A1 Val1342Leu V1342L not reviewed Insufficiently evaluated not reviewed unknown Array rs17833992 1656 10752 0.154018 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - COL14A1 Ala1667Thr A1667T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL15A1 Gly126Ser G126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 1 - 1 - - COL15A1 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array rs2075662 2263 10758 0.210355 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - COL15A1 Met204Val M204V not reviewed Insufficiently evaluated not reviewed unknown Array rs2075663 5456 10756 0.507252 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COL15A1 Met422Ile M422I not reviewed Insufficiently evaluated not reviewed unknown Array rs34138827 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL15A1 Ala442Thr A442T not reviewed Insufficiently evaluated not reviewed unknown Array rs16918128 24 10758 0.0022309 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - COL15A1 Gly446Arg G446R not reviewed Insufficiently evaluated not reviewed unknown Array rs35934703 989 10758 0.0919316 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.158 - - 6 Y 0 N - - COL15A1 Gly504Val G504V not reviewed Insufficiently evaluated not reviewed unknown Array rs2297603 854 10758 0.0793828 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 1 N - - COL15A1 Glu506Asp E506D not reviewed Insufficiently evaluated not reviewed unknown Array rs35250850 933 10758 0.0867262 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - COL15A1 Pro705Leu P705L not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 3 - 2 - - COL15A1 Leu1019Arg L1019R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - COL15A1 Pro1122Leu P1122L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 7 Y 2 N - - COL15A1 Ala1148Val A1148V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - 2 - 1 N - - COL15A1 Val1332Ile V1332I not reviewed Insufficiently evaluated not reviewed unknown Array rs10519 1348 10758 0.125302 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.089 - - -4 - 0 N - - COL16A1 Pro1098Leu P1098L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL16A1 Gly809Glu G809E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL16A1 Gln805Leu Q805L not reviewed Insufficiently evaluated not reviewed unknown Array rs74063958 130 9946 0.0130706 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL16A1 Gly745Ser G745S not reviewed Insufficiently evaluated not reviewed unknown Array rs34770879 47 9660 0.00486542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - COL16A1 Arg647His R647H not reviewed Insufficiently evaluated not reviewed unknown Array 74 9846 0.00751574 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL16A1 Arg90Stop R90X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL16A1 Thr88Met T88M not reviewed Insufficiently evaluated not reviewed unknown Array 2 9942 0.000201166 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 2 - 0 N - - COL16A1 Thr62Lys T62K not reviewed Insufficiently evaluated not reviewed unknown Array rs2228552 5429 10062 0.539555 41 0 53 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 1 N - - COL17A1 Asp1370Gly D1370G not reviewed Insufficiently evaluated not reviewed unknown Array rs17116350 3097 10758 0.287879 28 0 35 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - COL17A1 Met703Val M703V not reviewed Insufficiently evaluated not reviewed unknown Array rs805722 7691 10758 0.71491 47 0 77 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COL17A1 Gly428Ser G428S not reviewed Insufficiently evaluated not reviewed unknown Array rs805698 9090 10754 0.845267 44 0 77 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 2 - - COL17A1 Asn319Asp N319D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL17A1 His296Gln H296Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL17A1 Ser295Pro S295P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL17A1 Thr210Met T210M not reviewed Insufficiently evaluated not reviewed unknown Array rs805708 6244 10758 0.580405 43 0 63 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - COL17A1 Thr43Pro T43P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL17A1 Thr4Ala T4A not reviewed Insufficiently evaluated not reviewed unknown Array rs17116471 16 10758 0.00148726 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - COL18A1 Ala303Thr A303T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.445 Y - 1 - 2 N - - COL18A1 Thr379Met T379M not reviewed Insufficiently evaluated not reviewed unknown Array 1128 3176 0.355164 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.969 Y - 2 - 2 N - - COL18A1 Gly425Arg G425R not reviewed Insufficiently evaluated not reviewed unknown Array 11 2968 0.0037062 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.789 Y - 6 Y 2 N - - COL18A1 Asp514Asn D514N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL18A1 Asp694Asn D694N not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL18A1 Asp929Asn D929N not reviewed Insufficiently evaluated not reviewed unknown Array 8 9750 0.000820512 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL18A1 Val1076Ile V1076I not reviewed Insufficiently evaluated not reviewed unknown Array 1166 9708 0.120107 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - COL18A1 Val661Ile V661I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - COL18A1 Val841Ile V841I not reviewed Insufficiently evaluated not reviewed unknown Array rs62000962 10 124 0.0806452 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - COL18A1 Gln1195His Q1195H not reviewed Insufficiently evaluated not reviewed unknown Array 246 9490 0.025922 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL18A1 Gln780His Q780H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL18A1 Gln960His Q960H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230693 12 118 0.101695 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - COL18A1 Ala1115Thr A1115T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL18A1 Ala1295Thr A1295T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL18A1 Ala1530Thr A1530T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL18A1 Val1222Met V1222M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL18A1 Val1402Met V1402M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL18A1 Val1637Met V1637M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL18A1 Asp1257Asn D1257N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL18A1 Asp1437Asn D1437N pathogenic Low clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 1 2 Y 1 Y 0 Y 1 Y 4 - 1 - Y Y - - - Y - -1 - Knobloch Syndrome Type I 1 3 16 144 3.000 4 N 8 0 0 This variant is reported to cause Knobloch syndrome (a rare disorder causing severe eye and head problems) in one family when compound heterozygous with another much more severe variant. This variant has an allele frequency much more common than the disease itself (3-4%) and probably only causes disease when paired with a more severe variant. COL18A1 Asp1672Asn D1672N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - COL19A1 Ile15Val I15V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COL19A1 Ala352Gly A352G not reviewed Insufficiently evaluated not reviewed unknown Array rs2273426 2477 10756 0.23029 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COL19A1 Glu496Gly E496G not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 3 - 1 - - COL1A1 Thr1075Ala T1075A not reviewed Insufficiently evaluated not reviewed unknown Array rs1800215 10375 10690 0.970533 46 0 89 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - COL1A2 Pro549Ala P549A not reviewed Insufficiently evaluated not reviewed unknown Array rs42524 8582 10758 0.797732 54 0 93 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - COL1A2 Arg1205Gln R1205Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73428220 23 10758 0.00213794 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.624 Y Y 0 - 3 N - - COL20A1 Pro134Leu P134L not reviewed Insufficiently evaluated not reviewed unknown Array rs753686 1417 9774 0.144976 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - COL20A1 Arg574Gln R574Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73329169 67 10078 0.00664814 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL20A1 Trp1269Stop W1269X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL21A1 Leu821Pro L821P not reviewed Insufficiently evaluated not reviewed unknown Array rs12209452 356 9580 0.0371608 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL21A1 Ala747Asp A747D not reviewed Insufficiently evaluated not reviewed unknown Array rs9464337 273 9592 0.0284612 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.531 - - 5 Y 1 N - - COL21A1 Ile495Thr I495T not reviewed Insufficiently evaluated not reviewed unknown Array rs35583895 71 4800 0.0147917 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 3 - 1 N - - COL22A1 Leu1483His L1483H not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 2 N - - COL22A1 Asn1115Ser N1115S not reviewed Insufficiently evaluated not reviewed unknown Array rs73432826 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL22A1 Arg1089Lys R1089K not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - COL22A1 Ala938Asp A938D not reviewed Insufficiently evaluated not reviewed unknown Array rs4909444 3404 10758 0.316416 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COL22A1 Pro703Thr P703T not reviewed Insufficiently evaluated not reviewed unknown Array rs10111520 584 10758 0.0542852 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - COL22A1 Ser320Gly S320G not reviewed Insufficiently evaluated not reviewed unknown Array rs2292927 8946 10758 0.831567 56 0 94 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - COL22A1 Arg300Gln R300Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - COL23A1 Thr287Ala T287A not reviewed Insufficiently evaluated not reviewed unknown Array rs890802 5391 10060 0.535885 45 0 59 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - COL23A1 Arg267Trp R267W not reviewed Insufficiently evaluated not reviewed unknown Array rs61739424 360 10262 0.0350809 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - COL23A1 Gly102Arg G102R not reviewed Insufficiently evaluated not reviewed unknown Array rs34594012 1103 9636 0.114467 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - COL24A1 Gly1641Ser G1641S not reviewed Insufficiently evaluated not reviewed unknown Array 16 9738 0.00164305 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL24A1 Ser1197Ile S1197I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 5 Y 2 N - - COL24A1 Pro1067Arg P1067R not reviewed Insufficiently evaluated not reviewed unknown Array rs74097605 174 9542 0.0182352 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.972 - - 5 Y 2 N - - COL24A1 Pro731Ser P731S not reviewed Insufficiently evaluated not reviewed unknown Array rs641712 3027 9540 0.317296 24 0 25 0 0 - - - - - - - - - - - - - - - - 0.24 - - 3 - 0 N - - COL24A1 Arg641His R641H not reviewed Insufficiently evaluated not reviewed unknown Array rs60891279 1301 9432 0.137935 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.154 - - 1 - 0 N - - COL24A1 Pro546Ser P546S not reviewed Insufficiently evaluated not reviewed unknown Array rs11161732 3507 9388 0.373562 32 0 45 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - COL24A1 Met481Leu M481L not reviewed Insufficiently evaluated not reviewed unknown Array rs10493784 490 9480 0.0516878 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.761 - - -3 - 0 N - - COL24A1 Glu340Lys E340K not reviewed Insufficiently evaluated not reviewed unknown Array rs74097690 506 9810 0.05158 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COL24A1 Ile293Thr I293T not reviewed Insufficiently evaluated not reviewed unknown Array rs17128866 591 9574 0.0617297 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 1 - 2 - - COL24A1 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array rs1027819 497 9590 0.0518248 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.302 - - 7 Y 0 N - - COL24A1 Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array rs74097691 453 9564 0.0473651 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL24A1 Ala61Val A61V not reviewed Insufficiently evaluated not reviewed unknown Array rs11161747 6786 9754 0.695715 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL24A1 Arg7Lys R7K not reviewed Insufficiently evaluated not reviewed unknown Array 136 9764 0.0139287 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.16 - - -3 - 0 N - - COL25A1 Asp430Gly D430G not reviewed Insufficiently evaluated not reviewed unknown Array rs72897032 112 10036 0.0111598 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - COL27A1 Gly60Arg G60R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - COL27A1 Thr86Met T86M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - COL27A1 Val89Ile V89I not reviewed Insufficiently evaluated not reviewed unknown Array rs2567707 27 128 0.210938 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.651 - - -4 - 0 N - - COL27A1 Gln120Arg Q120R not reviewed Insufficiently evaluated not reviewed unknown Array rs2567706 35 124 0.282258 28 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - COL27A1 Val380Leu V380L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - 0 - 1 N - - COL27A1 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array rs2241671 55 124 0.443548 40 0 52 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - COL27A1 Ile537Thr I537T not reviewed Insufficiently evaluated not reviewed unknown Array rs2808770 39 128 0.304688 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COL27A1 Ile611Phe I611F not reviewed Insufficiently evaluated not reviewed unknown Array rs2567705 49 128 0.382812 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL27A1 Pro1116Gln P1116Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7048607 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - COL27A1 Arg1354Gln R1354Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10982134 44 128 0.34375 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COL27A1 Met1808Val M1808V not reviewed Insufficiently evaluated not reviewed unknown Array rs3736252 11 128 0.0859375 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 1 N - - COL28A1 Gln734Lys Q734K not reviewed Insufficiently evaluated not reviewed unknown Array 153 9700 0.0157732 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.332 - - -2 - 1 N - - COL28A1 Ile437Met I437M not reviewed Insufficiently evaluated not reviewed unknown Array rs55745506 2746 9496 0.289174 32 0 37 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - COL28A1 Glu433Asp E433D not reviewed Insufficiently evaluated not reviewed unknown Array rs6952195 3016 9656 0.312345 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - COL28A1 Thr327Ser T327S not reviewed Insufficiently evaluated not reviewed unknown Array rs10486176 1152 9618 0.119775 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - COL28A1 Ala189Gly A189G not reviewed Insufficiently evaluated not reviewed unknown Array rs7804532 9008 9614 0.936967 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COL29A1 Glu455Lys E455K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL29A1 His805Arg H805R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - COL29A1 Asp982Gly D982G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL29A1 His1098Tyr H1098Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL29A1 Val1276Ile V1276I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COL29A1 Thr1280Pro T1280P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL29A1 Glu1347Asp E1347D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL29A1 Cys1477Ser C1477S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL29A1 Ser1539Thr S1539T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL29A1 Ser1589Pro S1589P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL29A1 Pro1623His P1623H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL29A1 Glu1750Asp E1750D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL29A1 Arg1852Cys R1852C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - COL29A1 Ala2056Ser A2056S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL29A1 Gln2188Arg Q2188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL29A1 Gly2205Asp G2205D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL2A1 Gly1336Ser G1336S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL2A1 Gly1405Ser G1405S not reviewed Insufficiently evaluated not reviewed unknown Array rs2070739 740 10758 0.068786 13 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - COL2A1 Val1262Ile V1262I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL2A1 Val1331Ile V1331I not reviewed Insufficiently evaluated not reviewed unknown Array rs12721427 572 10758 0.0531697 5 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - COL2A1 Ala337Val A337V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - COL2A1 Ala406Val A406V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL2A1 Thr9Ser T9S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803183 7201 9106 0.790797 15 0 24 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - COL3A1 Ala698Thr A698T not reviewed Insufficiently evaluated not reviewed unknown Array rs1800255 2268 10758 0.21082 16 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - COL3A1 His1353Gln H1353Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1516446 10698 10758 0.994423 56 0 112 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - COL4A1 Pro1647Thr P1647T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL4A1 Pro1569Leu P1569L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL4A1 Gln1334His Q1334H pathogenic Low clinical importance, Likely pathogenic dominant Array rs3742207 3493 10758 0.324689 26 0 31 3 3 0 Y - - 5 Y 0 - 4 Y 4 Y Y - Y Y 0.16 Y Y -1 - 4 N 7 0 1 This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%. COL4A1 Gln985His Q985H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -1 - 2 N - - COL4A1 Thr555Pro T555P not reviewed Insufficiently evaluated not reviewed unknown Array rs536174 128 128 1 56 0 112 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - COL4A1 Val7Leu V7L not reviewed Insufficiently evaluated not reviewed unknown Array rs9515185 1521 5234 0.2906 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COL4A2 Ala419Val A419V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9674 0.000103369 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL4A2 Arg517Lys R517K not reviewed Insufficiently evaluated not reviewed unknown Array rs7990383 6242 9820 0.635642 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - COL4A2 Gly683Ala G683A not reviewed Insufficiently evaluated not reviewed unknown Array rs3803230 1003 9840 0.101931 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - COL4A2 Lys701Arg K701R not reviewed Insufficiently evaluated not reviewed unknown Array 8 9800 0.000816326 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -3 - 0 N - - COL4A2 Pro718Ser P718S not reviewed Insufficiently evaluated not reviewed unknown Array rs9583500 2284 9772 0.233729 23 0 24 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - COL4A2 Gly1663Ser G1663S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10506 0.000571102 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - COL4A3 Gly43Arg G43R not reviewed Insufficiently evaluated not reviewed unknown Array rs13424243 3381 9580 0.352923 30 0 38 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 6 - - COL4A3 Leu141Pro L141P not reviewed Insufficiently evaluated not reviewed unknown Array rs10178458 7398 9556 0.774173 54 0 90 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - COL4A3 Glu162Gly E162G not reviewed Insufficiently evaluated not reviewed unknown Array rs6436669 7350 9502 0.773521 53 0 91 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 3 - - COL4A3 Glu269Lys E269K not reviewed Insufficiently evaluated not reviewed unknown Array 218 9736 0.0223911 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL4A3 Asp326Tyr D326Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55703767 1624 9608 0.169026 28 0 28 1 1 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 6 - - COL4A3 Arg408His R408H not reviewed Insufficiently evaluated not reviewed unknown Array rs34505188 607 9608 0.0631765 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - COL4A3 His451Arg H451R not reviewed Insufficiently evaluated not reviewed unknown Array rs11677877 706 9576 0.073726 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - COL4A3 Pro574Leu P574L not reviewed Insufficiently evaluated not reviewed unknown Array rs28381984 3703 9614 0.385167 34 0 44 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 9 - - COL4A3 Lys834Arg K834R not reviewed Insufficiently evaluated not reviewed unknown Array rs56226424 100 9486 0.0105419 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COL4A3 Arg1011Cys R1011C not reviewed Insufficiently evaluated not reviewed unknown Array 24 9868 0.0024321 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - COL4A3 Pro1067Arg P1067R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9654 0.000103584 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL4A3 Asp1269Glu D1269E not reviewed Insufficiently evaluated not reviewed unknown Array rs57611801 466 9676 0.0481604 7 0 7 0 0 3 Y - - - - - - - - - - Y - - - 0.583 Y Y -2 - 4 - 1 - - COL4A3 Asp1347Glu D1347E not reviewed Insufficiently evaluated not reviewed unknown Array rs73996414 256 10042 0.0254929 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.184 Y Y -2 - 3 - 1 - - COL4A3BP Lys573Arg K573R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - COL4A3BP Lys599Arg K599R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.89 - - -3 - 3 - 1 - - COL4A3BP Lys727Arg K727R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - COL4A4 Met1552Ile M1552I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL4A4 Ser1403Pro S1403P not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - COL4A4 Met1399Leu M1399L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COL4A4 Val1327Met V1327M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229813 4236 9524 0.444771 37 0 49 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COL4A4 Ala1078Thr A1078T not reviewed Insufficiently evaluated not reviewed unknown Array 53 9578 0.00553351 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL4A4 Pro1004Leu P1004L not reviewed Insufficiently evaluated not reviewed unknown Array rs1800517 5009 9710 0.51586 39 0 54 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - COL4A4 Ser969Stop S969X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 3 Y - - 0 Y 0 Y 3 - 1 - Y - - - - Y Y 10 Y Collagen IV-Related Nephropathies (Alport Syndrome and Thin Base 2 4 0 0 - 5 - 7 - - In a study of four families with Alport Syndrome, this variant was found in two unrelated families: one homozygously (four cases) and one as a compound heterozygote (one case). Lack of control data means significance cannot be established and variant allele frequency cannot be estimated. COL4A4 Pro759Leu P759L not reviewed Insufficiently evaluated not reviewed unknown Array rs36121515 254 9506 0.02672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL4A4 Ala715Val A715V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9570 0.000208986 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL4A4 Val670Ile V670I not reviewed Insufficiently evaluated not reviewed unknown Array rs34236495 156 9668 0.0161357 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL4A4 Ala607Thr A607T not reviewed Insufficiently evaluated not reviewed unknown Array 12 9624 0.00124688 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL4A4 Glu594Gly E594G not reviewed Insufficiently evaluated not reviewed unknown Array rs35998949 226 9626 0.0234781 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL4A4 Pro482Ser P482S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229814 4826 9666 0.499276 37 0 53 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 7 - - COL4A4 Ile6Thr I6T not reviewed Insufficiently evaluated not reviewed unknown Array rs16823264 979 9850 0.0993909 15 0 18 0 0 2 Y - - - - - - - - - - Y - - - 0.017 Y Y 3 - 2 N - - COL4A5 Ile444Ser I444S not reviewed Insufficiently evaluated not reviewed unknown Array rs2272946 1065 8760 0.121575 12 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 - 6 - - COL4A5 Pro739Ala P739A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 2 - - COL4A5 Gly953Val G953V pathogenic Insufficiently evaluated pathogenic recessive Array 2 8761 0.000228284 1 0 1 1 1 2 - - - 0 - 1 - 3 - 1 - Y - - - - Y Y 8 Y 4 - 4 - - This X-linked variant was seen in a one patient (out of 131 screened) with Alport Syndrome, where it was seen on the same allele as an additional nonsynonymous variant in the same gene. Other variants in this gene are known to cause this disease. COL4A5 Thr1427Ile T1427I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL4A6 Ser454Pro S454P not reviewed Insufficiently evaluated not reviewed unknown Array rs1042065 6483 8761 0.739984 40 0 71 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COL4A6 Ser455Pro S455P not reviewed Insufficiently evaluated not reviewed unknown Array rs1042065 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL5A1 Asn50Thr N50T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL5A1 Glu284Lys E284K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL5A2 Pro1033Leu P1033L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL5A2 Gly591Val G591V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 8 Y 4 N - - COL5A2 Val512Ala V512A not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.445 Y Y 2 - 3 N - - COL5A2 Met361Leu M361L not reviewed Insufficiently evaluated not reviewed unknown Array 237 10756 0.0220342 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y -3 - 3 N - - COL5A3 Val1691Ile V1691I not reviewed Insufficiently evaluated not reviewed unknown Array rs2277969 2597 10758 0.241402 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - COL5A3 Ala1488Pro A1488P not reviewed Insufficiently evaluated not reviewed unknown Array rs3745584 2048 9170 0.223337 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL5A3 Val1428Met V1428M not reviewed Insufficiently evaluated not reviewed unknown Array rs3815746 2272 10758 0.211192 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COL5A3 Arg1207Pro R1207P not reviewed Insufficiently evaluated not reviewed unknown Array rs2287813 5554 10758 0.516267 45 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COL5A3 Pro1125Ser P1125S not reviewed Insufficiently evaluated not reviewed unknown Array rs3815745 1903 10758 0.176892 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - COL5A3 Arg1042Pro R1042P not reviewed Insufficiently evaluated not reviewed unknown Array rs2161468 4134 10758 0.384272 36 0 42 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - COL5A3 Arg322Gly R322G not reviewed Insufficiently evaluated not reviewed unknown Array rs2287803 10494 10758 0.97546 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - COL5A3 Arg322Trp R322W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - COL5A3 Ala280Pro A280P not reviewed Insufficiently evaluated not reviewed unknown Array rs61742765 1614 10758 0.150028 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL5A3 Asn226Tyr N226Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62104337 1835 10758 0.170571 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COL5A3 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array rs2303098 1792 10692 0.167602 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COL6A1 Ser116Asn S116N benign Insufficiently evaluated benign dominant Array rs11553519 441 10754 0.041008 5 0 5 1 1 - - - - - - - - - - - - Y - - - 0.08 Y Y 0 - 2 N - - This variant was initially reported causative for Bethlem Myopathy after it was found in three individuals. Later studies find it with an allelic frequency of 0.01, however. COL6A1 Arg439Gln R439Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35059000 73 10728 0.00680462 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A1 Pro655Ala P655A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A1 Lys814Arg K814R not reviewed Insufficiently evaluated not reviewed unknown Array rs11553518 75 10758 0.00697156 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COL6A1 Arg850His R850H not reviewed Insufficiently evaluated not reviewed unknown Array rs1053312 3615 10596 0.341166 26 0 32 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - COL6A1 Ser890Leu S890L not reviewed Insufficiently evaluated not reviewed unknown Array rs13051496 1713 10754 0.15929 10 0 10 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 2 - - COL6A2 Asp227Asn D227N not reviewed Insufficiently evaluated not reviewed unknown Array rs35881321 301 10732 0.028047 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.184 Y Y -1 - 2 N - - COL6A2 Glu278Lys E278K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735835 81 10750 0.00753488 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.595 Y Y 0 - 3 N - - COL6A2 Ser399Asn S399N not reviewed Insufficiently evaluated not reviewed unknown Array rs2839110 7849 10746 0.730411 50 0 82 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COL6A2 Pro497Thr P497T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 4 Y 4 N - - COL6A2 Arg680His R680H not reviewed Insufficiently evaluated not reviewed unknown Array rs1042917 4448 10758 0.41346 20 0 26 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 - 2 - - COL6A2 Gly935Arg G935R not reviewed Insufficiently evaluated not reviewed unknown Array rs35548026 881 10734 0.0820756 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 6 Y 3 - 1 - - COL6A2 Ala995Thr A995T not reviewed Insufficiently evaluated not reviewed unknown Array rs35139588 91 10746 0.00846827 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.06 Y Y 1 - 2 N - - COL6A3 Thr2863Ile T2863I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Thr2868Ile T2868I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Thr2869Ile T2869I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Thr2902Ile T2902I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Thr3069Ile T3069I not reviewed Insufficiently evaluated not reviewed unknown Array rs1131296 3894 10758 0.361963 33 0 38 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - COL6A3 Ala2806Pro A2806P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2811Pro A2811P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2812Pro A2812P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2845Pro A2845P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala3012Pro A3012P not reviewed Insufficiently evaluated not reviewed unknown Array rs2270669 8987 10758 0.835378 53 0 97 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - COL6A3 Met2782Val M2782V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Met2787Val M2787V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Met2788Val M2788V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Met2821Val M2821V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Met2988Val M2988V not reviewed Insufficiently evaluated not reviewed unknown Array rs11690358 722 10402 0.0694097 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COL6A3 Ala2735Val A2735V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2740Val A2740V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2741Val A2741V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2774Val A2774V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2941Val A2941V pathogenic Insufficiently evaluated pathogenic dominant Array rs11903206 153 10752 0.0142299 2 0 3 1 1 1 Y - - 0 Y 0 Y 3 Y 1 Y Y - - - - Y Y 2 - Bethlem Myopathy 1 78 0 0 - 3 N - - This variant was found in a single Bethlem Myopathy patient in a screen for causative mutations, but there is insufficient data to evaluate significance. This disease is generally dominant; the presence of the mutation in public genomic sequences from two presumed-healthy individuals contradicts the putative pathogenic effect of this variant. Lack of controls means that significance cannot be established and allele frequency cannot be estimated. COL6A3 Met2721Thr M2721T not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Met2726Thr M2726T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Met2727Thr M2727T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Met2760Thr M2760T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Met2927Thr M2927T not reviewed Insufficiently evaluated not reviewed unknown Array rs6728818 7532 10756 0.70026 49 0 75 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - COL6A3 Pro2012Leu P2012L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Pro2017Leu P2017L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Pro2018Leu P2018L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Pro2051Leu P2051L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Pro2218Leu P2218L not reviewed Insufficiently evaluated not reviewed unknown Array rs36117715 920 10758 0.0855178 10 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 1 - - COL6A3 Arg1891Pro R1891P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL6A3 Arg1896Pro R1896P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL6A3 Arg1897Pro R1897P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL6A3 Arg1930Pro R1930P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL6A3 Arg2097Pro R2097P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL6A3 Asp1642Asn D1642N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Asp1647Asn D1647N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Asp1648Asn D1648N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Asp1681Asn D1681N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Asp1848Asn D1848N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Arg1189Gln R1189Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Arg1194Gln R1194Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Arg1195Gln R1195Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Arg1395Gln R1395Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Arg1189Trp R1189W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Arg1194Trp R1194W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Arg1195Trp R1195W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Arg1395Trp R1395W not reviewed Insufficiently evaluated not reviewed unknown Array rs73998894 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Asp1087Glu D1087E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Asp1092Glu D1092E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Asp1093Glu D1093E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Asp1293Glu D1293E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Lys1088Gln K1088Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11896521 520 10758 0.0483361 5 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 2 - - COL6A3 Lys882Gln K882Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Lys887Gln K887Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Lys888Gln K888Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Ala390Ser A390S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Ala395Ser A395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Ala596Ser A596S not reviewed Insufficiently evaluated not reviewed unknown Array rs34934127 244 10758 0.0226808 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Cys14Phe C14F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 1 - - COL6A6 Ala370Thr A370T not reviewed Insufficiently evaluated not reviewed unknown Array rs9830253 6793 10244 0.66312 33 0 52 0 0 - - - - - - - - - - - - - - - - 0.86 - - 1 - 1 N - - COL6A6 Glu461Ala E461A not reviewed Insufficiently evaluated not reviewed unknown Array rs11921769 496 9878 0.0502126 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.651 - - 3 - 0 N - - COL6A6 Pro556Ser P556S not reviewed Insufficiently evaluated not reviewed unknown Array rs59021909 863 10076 0.0856491 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 1 N - - COL6A6 Ala1429Val A1429V not reviewed Insufficiently evaluated not reviewed unknown Array rs73868925 927 9596 0.0966028 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.191 - - 2 - 0 N - - COL6A6 Ala1590Ser A1590S not reviewed Insufficiently evaluated not reviewed unknown Array 10 9648 0.00103648 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL6A6 Tyr1655Cys Y1655C not reviewed Insufficiently evaluated not reviewed unknown Array 148 9796 0.0151082 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - COL6A6 Arg1739Gln R1739Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16830494 841 9682 0.0868622 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - COL6A6 His1799Arg H1799R not reviewed Insufficiently evaluated not reviewed unknown Array rs7614116 4263 9958 0.428098 42 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COL7A1 Gly2662Glu G2662E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL7A1 Pro2231Leu P2231L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL7A1 Gly1546Arg G1546R not reviewed Insufficiently evaluated not reviewed unknown Array rs73831831 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - COL7A1 Arg1538His R1538H not reviewed Insufficiently evaluated not reviewed unknown Array rs2229824 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 1 - 4 N - - COL7A1 Arg1120Lys R1120K not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COL7A1 Pro595Leu P595L not reviewed Insufficiently evaluated not reviewed unknown Array rs2228561 1092 10758 0.101506 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - COL7A1 Ser543Asn S543N not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL7A1 Pro268Ser P268S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL7A1 Arg213Gln R213Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - COL8A1 Ala464Val A464V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL8A2 Thr502Met T502M not reviewed Insufficiently evaluated not reviewed unknown Array 20 7396 0.00270416 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - COL8A2 Val280Leu V280L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL8A2 Arg155Gln R155Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 8100 0.000617283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - COL9A1 Met524Val M524V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL9A1 Met767Val M767V not reviewed Insufficiently evaluated not reviewed unknown Array rs6910140 479 10758 0.044525 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL9A1 Gln378Arg Q378R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL9A1 Gln621Arg Q621R not reviewed Insufficiently evaluated not reviewed unknown Array rs1135056 4189 10758 0.389385 35 0 41 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COL9A1 Glu207Gly E207G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL9A1 Glu450Gly E450G not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL9A1 Ser339Pro S339P not reviewed Insufficiently evaluated not reviewed unknown Array rs592121 5153 10758 0.478992 42 0 64 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 3 - - COL9A1 Ser96Pro S96P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL9A2 Val581Ile V581I not reviewed Insufficiently evaluated not reviewed unknown Array rs3737821 720 10722 0.0671517 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.037 Y Y -4 - 3 - 1 - - COL9A2 Leu335Val L335V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228567 1049 10758 0.0975088 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - COL9A2 Gln326Arg Q326R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228564 3020 10758 0.280721 31 0 41 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 4 - - COL9A2 Gln326Stop Q326X not reviewed Insufficiently evaluated not reviewed unknown Array rs12077871 340 10758 0.0316044 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - This is a common polymorphism (HapMap 9.4% allele frequency) of a collagen gene. The SNP rs2228564 (c.977A>G) is ancestral to this one (c.976C>T), resulting in three common amino acids at this position: "CAG" codon = Gln/Q, "CGG" codon = Arg/R, and "TGG" codon = Trp/W. The interpretation of this polymorphism compared to reference in the absence of its neighboring polymorphism results it being misinterpreted as "Stop/X" (TAG), it should be "Trp/W". COL9A2 Thr246Met T246M benign Low clinical importance, Likely benign unknown Array rs2228565 272 10758 0.0252835 3 0 3 1 1 - - - - 5 Y 0 Y - - - - Y - - - - Y Y 2 - 4 - 1 0 1 Probably benign. COL9A2 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array 32 10672 0.0029985 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - COL9A3 Pro94Ser P94S not reviewed Insufficiently evaluated not reviewed unknown Array rs35908728 579 10756 0.0538304 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - COL9A3 Arg103Trp R103W pathogenic Moderate clinical importance, Likely pathogenic dominant Array rs61734651 517 10758 0.0480573 1 0 1 1 1 2 Y - - 5 Y 0 Y 3 Y 2 Y Y Y - - - Y Y 7 Y 5 N 8 1 1 Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%). COL9A3 Ala435Glu A435E not reviewed Insufficiently evaluated not reviewed unknown Array rs751557 2915 10758 0.270961 22 0 26 0 0 - - - - - - - - - - - - Y - - - 0.568 Y Y 3 - 3 - 1 - - COL9A3 Gly551Arg G551R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - COLEC11 Pro26Leu P26L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COLEC11 His216Arg H216R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COLEC11 His219Arg H219R not reviewed Insufficiently evaluated not reviewed unknown Array rs7567833 2694 10758 0.250418 25 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COLEC12 Gly606Ser G606S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305027 4583 10758 0.426009 36 0 49 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - COLEC12 Ser522Pro S522P not reviewed Insufficiently evaluated not reviewed unknown Array rs2305025 6515 10492 0.620949 39 0 61 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COLQ Ser278Gly S278G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COLQ Ser302Gly S302G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COLQ Ser303Gly S303G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.941 Y Y 2 - 4 N - - COLQ Ser312Gly S312G not reviewed Insufficiently evaluated not reviewed unknown Array rs6782980 616 10758 0.0572597 8 0 8 1 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 3 - 1 - - COLQ Lys204Arg K204R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COLQ Lys228Arg K228R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COLQ Lys229Arg K229R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COLQ Lys238Arg K238R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.949 Y Y -3 - 5 - 1 - - COMMD10 Ile128Ser I128S not reviewed Insufficiently evaluated not reviewed unknown Array rs1129495 1256 10756 0.116772 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - COMMD2 Ile113Leu I113L not reviewed Insufficiently evaluated not reviewed unknown Array rs9843784 3420 10758 0.317903 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.045 - - -2 - 0 N - - COMMD3 Arg18Gly R18G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COMMD5 Ser17Thr S17T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - -2 - 0 N - - COMMD5 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array rs1209879 2938 10758 0.273099 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - COMMD9 Ser31Ile S31I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.886 - - 5 Y 2 N - - COMMD9 Ser31Gly S31G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 2 - 1 N - - COMP Gln756Arg Q756R not reviewed Insufficiently evaluated not reviewed unknown Array rs61752496 705 10758 0.0655326 9 0 9 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - COMP Asn386Asp N386D not reviewed Insufficiently evaluated not reviewed unknown Array 382 10758 0.0355085 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 4 - - COMT Asp44Asn D44N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - COMT Asp94Asn D94N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 0 N - - COMT Val108Met V108M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4680 1 0 1 4 4 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - COMT Val158Met V158M pathogenic Insufficiently evaluated pathogenic unknown Array rs4680 4823 10756 0.448401 54 0 73 6 4 1 Y - - - - - - - - - - - Y - - - - - 0 - 2 N - - A codominant allele affecting COMT enzyme activity, considered a benign functional polymorphism. Some claims of association with schizophrenia, Possibly provides advantage in memory and attention tasks ("worrier strategy"). COPA Thr146Ala T146A not reviewed Insufficiently evaluated not reviewed unknown Array rs57425682 541 10758 0.0502882 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COPB2 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - COPE Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array rs10330 2141 10752 0.199126 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - COPE Ser13Cys S13C not reviewed Insufficiently evaluated not reviewed unknown Array rs2231987 875 10758 0.0813348 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COPG Leu240Val L240V not reviewed Insufficiently evaluated not reviewed unknown Array rs62266876 873 10758 0.0811489 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - COPS3 Tyr186Phe Y186F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - COPS5 Ser334Tyr S334Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - COPS8 Pro132Thr P132T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COPS8 Pro181Thr P181T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 4 Y 0 N - - COPZ2 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COPZ2 Gly22Val G22V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - COQ10A Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs60542959 85 3116 0.0272786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.651 - - -1 - 1 N - - COQ10A Arg19Ser R19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COQ2 Val29Leu V29L not reviewed Insufficiently evaluated not reviewed unknown Array rs6818847 4933 7132 0.691671 19 0 31 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - COQ3 Tyr329His Y329H not reviewed Insufficiently evaluated not reviewed unknown Array rs4144164 10127 10758 0.941346 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - COQ3 Ser272Gly S272G not reviewed Insufficiently evaluated not reviewed unknown Array rs6925344 8551 10758 0.79485 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COQ3 Lys134Glu K134E not reviewed Insufficiently evaluated not reviewed unknown Array rs11548336 3124 10758 0.290389 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COQ4 Gly50Ala G50A not reviewed Insufficiently evaluated not reviewed unknown Array rs3003601 10432 10466 0.996751 44 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - COQ4 Arg205Gln R205Q not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - COQ5 Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array rs3742049 1684 10758 0.156535 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - COQ6 Asp264Val D264V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074930 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 8 Y 2 N - - COQ6 Asp339Val D339V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074930 854 10758 0.0793828 5 0 9 0 0 - - - - - - - - - - - - - - - - 0.033 - - 8 Y 0 N - - COQ6 Val331Met V331M not reviewed Insufficiently evaluated not reviewed unknown Array rs8500 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COQ6 Val406Met V406M not reviewed Insufficiently evaluated not reviewed unknown Array rs8500 4184 10758 0.38892 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - COQ7 Thr103Met T103M not reviewed Insufficiently evaluated not reviewed unknown Array rs11074359 5794 10758 0.538576 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COQ9 Leu209Val L209V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.303 Y - 0 - 2 N - - CORIN Arg792His R792H not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CORIN Trp687Gly W687G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CORIN His525Arg H525R not reviewed Insufficiently evaluated not reviewed unknown Array rs11934749 9587 10758 0.891151 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CORIN Asp444Gly D444G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 5 - - CORIN Cys13Tyr C13Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2289433 7571 10758 0.703755 44 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CORO2A Thr380Met T380M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 2 - 2 N - - CORO2A Leu379Arg L379R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.8 - - 6 Y 1 N - - CORO2A Arg339Cys R339C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CORO7 Ala403Thr A403T not reviewed Insufficiently evaluated not reviewed unknown Array rs9928967 432 10728 0.0402685 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CORO7 Arg193Gln R193Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3747579 5826 10758 0.54155 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CORO7 Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10756 0.00381183 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CORO7 Gly168Ala G168A not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COX10 Thr28Ile T28I not reviewed Insufficiently evaluated not reviewed unknown Array rs16948978 246 10758 0.0228667 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - COX10 Thr62Ser T62S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230351 539 10758 0.0501022 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - COX10 Tyr97Cys Y97C not reviewed Insufficiently evaluated not reviewed unknown Array rs16948986 246 10758 0.0228667 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - COX10 Arg159Gln R159Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8077302 5232 10758 0.486336 34 0 44 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - COX11 Pro74Leu P74L not reviewed Insufficiently evaluated not reviewed unknown Array rs34080917 79 10712 0.00737491 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 1 - 1 - - COX11 His21Tyr H21Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10452 0.00105243 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - -1 - 2 N - - COX15 Phe374Leu F374L not reviewed Insufficiently evaluated not reviewed unknown Array rs2231687 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 3 - - COX18 Trp225Leu W225L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 5 Y 2 N - - COX18 Cys3Tyr C3Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - COX4I1 Ala3Thr A3T not reviewed Insufficiently evaluated not reviewed unknown Array rs11557187 762 10758 0.070831 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - COX5B Gln125Arg Q125R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.148 - - 0 - 0 N - - COX8C Leu3Phe L3F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - COX8C Val49Leu V49L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.209 - - 0 - 1 N - - CP Glu544Asp E544D not reviewed Insufficiently evaluated not reviewed unknown Array rs701753 9124 10722 0.850961 53 0 90 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 - 4 - - CP Gln498Arg Q498R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 0 - 2 - 1 - - CP Pro116His P116H not reviewed Insufficiently evaluated not reviewed unknown Array rs73866999 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.89 - Y 5 Y 4 - 1 - - CP His108Tyr H108Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34386552 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y -1 - 4 - 4 - - CP110 Pro171Leu P171L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CP110 Ile252Met I252M not reviewed Insufficiently evaluated not reviewed unknown Array rs226891 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CP110 Phe347Ile F347I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - CP110 Met375Ile M375I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPA1 Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array rs34474469 262 10758 0.024354 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CPA3 Thr171Met T171M not reviewed Insufficiently evaluated not reviewed unknown Array rs12489516 10387 10758 0.965514 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CPA3 Arg341Gln R341Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61747091 708 10758 0.0658115 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.749 - - 0 - 0 N - - CPA4 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array rs34587586 4041 10758 0.375627 34 0 40 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CPA4 Gly303Cys G303C not reviewed Insufficiently evaluated not reviewed unknown Array rs2171492 3526 10758 0.327756 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CPA5 Trp208Gly W208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CPA5 Leu336Ser L336S not reviewed Insufficiently evaluated not reviewed unknown Array rs11761888 2943 10758 0.273564 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CPA5 Glu338Asp E338D not reviewed Insufficiently evaluated not reviewed unknown Array rs17854248 2276 10758 0.211563 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CPA5 Ser378Gly S378G not reviewed Insufficiently evaluated not reviewed unknown Array rs11765961 594 10758 0.0552147 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.671 - - 2 - 0 N - - CPA5 Met358Thr M358T not reviewed Insufficiently evaluated not reviewed unknown Array rs17164867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPA6 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - CPA6 Ala424Val A424V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - CPA6 Asn101Ser N101S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPA6 Asn249Ser N249S not reviewed Insufficiently evaluated not reviewed unknown Array rs17343819 1305 10758 0.121305 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CPA6 Ser173Cys S173C not reviewed Insufficiently evaluated not reviewed unknown Array rs17853192 640 10748 0.059546 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.112 - - 3 - 0 N - - CPA6 Ser25Cys S25C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPA6 Phe45Leu F45L not reviewed Insufficiently evaluated not reviewed unknown Array rs10957393 2874 10754 0.267249 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CPAMD8 Gln1890Arg Q1890R not reviewed Insufficiently evaluated not reviewed unknown Array rs1054533 2535 9538 0.265779 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CPAMD8 Ala1351Val A1351V not reviewed Insufficiently evaluated not reviewed unknown Array rs56408444 1495 10560 0.141572 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CPAMD8 Thr1315Ile T1315I not reviewed Insufficiently evaluated not reviewed unknown Array rs706761 6548 10344 0.633024 45 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CPAMD8 Ala1267Thr A1267T not reviewed Insufficiently evaluated not reviewed unknown Array rs57249432 64 10144 0.00630915 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPAMD8 Val1203Ile V1203I not reviewed Insufficiently evaluated not reviewed unknown Array rs2250918 505 10096 0.0500198 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CPAMD8 Ala882Thr A882T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741614 192 10122 0.0189686 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPAMD8 Pro783His P783H not reviewed Insufficiently evaluated not reviewed unknown Array rs9305083 1066 9834 0.108399 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CPAMD8 His593Arg H593R not reviewed Insufficiently evaluated not reviewed unknown Array rs1824152 4828 9926 0.486399 42 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CPAMD8 Asp586Glu D586E not reviewed Insufficiently evaluated not reviewed unknown Array rs55790575 3173 10006 0.31711 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CPAMD8 Gln499Stop Q499X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPAMD8 Ala379Thr A379T not reviewed Insufficiently evaluated not reviewed unknown Array rs62125985 646 9744 0.0662972 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CPAMD8 Met368Ile M368I not reviewed Insufficiently evaluated not reviewed unknown Array rs12974937 1947 9668 0.201386 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CPAMD8 Asp344Asn D344N not reviewed Insufficiently evaluated not reviewed unknown Array 123 10068 0.0122169 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPAMD8 Arg341Gln R341Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745340 3190 10100 0.315842 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.814 - - 0 - 0 N - - CPAMD8 Gly328Val G328V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CPAMD8 Met312Thr M312T not reviewed Insufficiently evaluated not reviewed unknown Array rs4808551 8099 9838 0.823236 53 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CPB1 Asp208Asn D208N not reviewed Insufficiently evaluated not reviewed unknown Array rs1059502 2605 10758 0.242145 27 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CPB1 Phe232Leu F232L not reviewed Insufficiently evaluated not reviewed unknown Array rs73866671 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CPB2 Ile310Thr I310T not reviewed Insufficiently evaluated not reviewed unknown Array rs1926447 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPB2 Ile347Thr I347T not reviewed Insufficiently evaluated not reviewed unknown Array rs1926447 8128 10754 0.755812 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CPB2 Ala169Thr A169T not reviewed Insufficiently evaluated not reviewed unknown Array rs3742264 3763 10758 0.349786 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CPD Thr899Ser T899S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CPD Ile1053Thr I1053T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPLX1 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CPLX4 Glu90Lys E90K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - CPM Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array rs7978197 1906 10758 0.17717 16 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CPN2 Val536Met V536M not reviewed Insufficiently evaluated not reviewed unknown Array rs11711157 2666 10758 0.247816 24 0 26 0 0 - - - - - - - - - - - - Y - - - 0.935 Y - 0 - 3 - 1 - - CPN2 Trp509Stop W509X not reviewed Insufficiently evaluated not reviewed unknown Array rs4974538 3 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CPN2 Trp509Arg W509R not reviewed Insufficiently evaluated not reviewed unknown Array rs4974539 58 114 0.508772 33 0 47 0 0 2 Y - - - - - - - - - - Y - - - - Y - 7 Y 2 - 2 - - CPN2 Ala305Thr A305T not reviewed Insufficiently evaluated not reviewed unknown Array rs3732477 3512 10758 0.326455 30 0 36 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 1 - 2 - 2 - - CPN2 Arg89Lys R89K not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - -3 - 2 - 1 - - CPNE1 Pro535Leu P535L not reviewed Insufficiently evaluated not reviewed unknown Array rs11543239 761 10758 0.0707381 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.338 - - 7 Y 0 N - - CPNE1 Pro540Leu P540L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CPNE1 Trp518Gly W518G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - CPNE1 Trp523Gly W523G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CPNE1 Ala406Thr A406T not reviewed Insufficiently evaluated not reviewed unknown Array rs73905908 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - CPNE1 Ala411Thr A411T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - CPNE1 Pro347Arg P347R not reviewed Insufficiently evaluated not reviewed unknown Array rs12481228 1086 10758 0.100948 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.384 - - 5 Y 0 N - - CPNE1 Pro352Arg P352R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CPNE1 Gly225Ser G225S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 1 - - CPNE1 Gly230Ser G230S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPNE1 Gln211Arg Q211R not reviewed Insufficiently evaluated not reviewed unknown Array rs6579255 2808 10758 0.261015 30 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CPNE1 Gln216Arg Q216R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPNE1 Val31Ile V31I not reviewed Insufficiently evaluated not reviewed unknown Array rs11543244 584 10758 0.0542852 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 1 N - - CPNE1 Val36Ile V36I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - -4 - 1 N - - CPNE3 Glu252Asp E252D not reviewed Insufficiently evaluated not reviewed unknown Array rs41333046 1174 10758 0.109128 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - CPNE3 Arg383Gln R383Q not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - CPNE3 Thr412Met T412M not reviewed Insufficiently evaluated not reviewed unknown Array rs2304789 3349 10758 0.311303 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.579 - - 2 - 0 N - - CPNE6 Arg59His R59H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - CPNE7 Phe77Leu F77L not reviewed Insufficiently evaluated not reviewed unknown Array rs455527 393 10692 0.0367565 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 3 - 5 - - CPNE7 Ser154Stop S154X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPNE7 Arg322Gln R322Q not reviewed Insufficiently evaluated not reviewed unknown Array 76 10756 0.00706582 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPNE7 Arg397Gln R397Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - CPNE8 Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - CPO Thr44Met T44M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.159 - - 2 - 1 - 8 - - CPO Trp59Stop W59X not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 3 - 1 - - CPO Met85Ile M85I not reviewed Insufficiently evaluated not reviewed unknown Array rs13420911 4766 10758 0.443019 31 0 39 0 0 - - - - - - - - - - - - Y - - - 0.196 - - -1 - 1 - 7 - - CPO Ser134Arg S134R not reviewed Insufficiently evaluated not reviewed unknown Array rs11903403 5302 10758 0.492843 35 0 45 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 - 4 - - CPO Pro171Ala P171A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.062 - - 2 - 0 N - - CPOX Arg352Cys R352C not reviewed Insufficiently evaluated not reviewed unknown Array rs11921054 506 10758 0.0470348 9 0 11 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 8 Y 4 - 1 - - CPOX Val294Ile V294I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228056 751 10758 0.0698085 10 0 12 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - -4 - 2 - 1 - - CPOX Asn272His N272H not reviewed Insufficiently evaluated not reviewed unknown Array rs1131857 2598 10758 0.241495 25 0 30 0 0 - - - - - - - - - - - - Y - - - 0.037 Y - 0 - 2 - 8 - - CPPED1 Lys241Arg K241R not reviewed Insufficiently evaluated not reviewed unknown Array rs1713480 8906 10036 0.887405 44 0 73 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CPPED1 Lys99Arg K99R not reviewed Insufficiently evaluated not reviewed unknown Array rs1713480 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CPPED1 Ala19Asp A19D not reviewed Insufficiently evaluated not reviewed unknown Array rs3748976 2933 9618 0.304949 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CPS1 Thr344Ala T344A not reviewed Insufficiently evaluated not reviewed unknown Array rs1047883 6422 10758 0.596951 51 0 51 0 0 1 Y - - - - - - - - - - Y - - - 0.302 Y Y 1 - 3 - 3 - - CPS1 Thr350Ala T350A not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - CPS1 Thr1010Met T1010M not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y 2 - 4 N - - CPS1 Thr1016Met T1016M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CPS1 Thr559Met T559M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CPS1 Thr1406Asn T1406N not reviewed Insufficiently evaluated not reviewed unknown Array rs1047891 3543 10758 0.329336 24 0 28 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - CPS1 Thr1412Asn T1412N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CPS1 Thr955Asn T955N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 5 Y - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - CPSF4 Arg141Trp R141W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CPSF4 Leu181Arg L181R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - CPT1A Ala275Thr A275T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229738 597 10758 0.0554936 4 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - CPT1B Glu450Lys E450K not reviewed Insufficiently evaluated not reviewed unknown Array rs470117 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPT1B Glu497Lys E497K not reviewed Insufficiently evaluated not reviewed unknown Array rs470117 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPT1B Glu531Lys E531K not reviewed Insufficiently evaluated not reviewed unknown Array rs470117 3743 10758 0.347927 32 0 40 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 0 N - - CPT1B Leu437Val L437V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPT1B Leu484Val L484V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CPT1B Leu518Val L518V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - CPT1B Pro434Ser P434S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPT1B Pro481Ser P481S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPT1B Pro515Ser P515S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 2 N - - CPT1B Ser393Cys S393C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPT1B Ser427Cys S427C not reviewed Insufficiently evaluated not reviewed unknown Array rs8142477 2981 10758 0.277096 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CPT1B Gly286Asp G286D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPT1B Gly320Asp G320D not reviewed Insufficiently evaluated not reviewed unknown Array rs2269383 385 10754 0.0358006 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - CPT1B Ile66Val I66V not reviewed Insufficiently evaluated not reviewed unknown Array rs3213445 846 10758 0.0786391 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CPT1C Ser319Arg S319R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPT1C Ser330Arg S330R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.327 - - 3 - 1 N - - CPT1C Leu682Met L682M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CPT1C Leu693Met L693M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - CPT1C Ala701Gly A701G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPT1C Ala712Gly A712G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 1 - 0 N - - CPT2 Ala101Val A101V pathogenic Insufficiently evaluated pathogenic other Array 59 10758 0.00548429 1 0 1 1 1 2 Y - - 0 Y 0 Y 3 Y 4 Y Y - - - 0.034 Y Y 2 - Carnitine Palmitoyltransferase II Deficiency 1 100 5 107 0.214 2 N - - This variant was reported to cause adult-onset carnitine palmitoyltransferase II deficiency in a dominant-negative manner, but the allele frequency in the 1000 Genomes project (4.5%) means this is likely a benign polymorphism and rules out the possibility of this variant being dominant. CPT2 Thr109Pro T109P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 4 Y 4 N - - CPT2 Arg193His R193H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - CPT2 Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array rs1799821 4902 10758 0.455661 37 0 44 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 9 - - CPT2 Met647Val M647V not reviewed Insufficiently evaluated not reviewed unknown Array rs1799822 1793 10758 0.166667 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.462 Y Y 0 - 3 - 10 - - CPT2 Met647Ile M647I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y -1 - 2 N - - CPVL Ala435Val A435V not reviewed Insufficiently evaluated not reviewed unknown Array rs7313 4310 10758 0.400632 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CPVL Arg398His R398H not reviewed Insufficiently evaluated not reviewed unknown Array rs1052200 1564 10758 0.14538 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CPVL Arg25His R25H not reviewed Insufficiently evaluated not reviewed unknown Array rs34219043 1606 10758 0.149284 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CPXCR1 Tyr3Ser Y3S not reviewed Insufficiently evaluated not reviewed unknown Array rs5940915 7929 8744 0.906793 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CPXCR1 Arg131His R131H not reviewed Insufficiently evaluated not reviewed unknown Array rs5984611 2861 8761 0.326561 17 0 24 0 0 - - - - - - - - - - - - - - - - 0.943 - - 1 - 1 N - - CPXM2 Gln750Arg Q750R not reviewed Insufficiently evaluated not reviewed unknown Array rs7088479 10560 10758 0.981595 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CPXM2 Val635Met V635M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - CPXM2 Asn454Ser N454S not reviewed Insufficiently evaluated not reviewed unknown Array rs62640897 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - CPZ Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array rs2302583 5984 7906 0.756894 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CPZ Pro6Leu P6L not reviewed Insufficiently evaluated not reviewed unknown Array rs34964084 756 8014 0.0943349 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CPZ Arg19Pro R19P not reviewed Insufficiently evaluated not reviewed unknown Array 985 8648 0.113899 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.62 - - 5 Y 0 N - - CPZ Gln119Leu Q119L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CPZ Gln130Leu Q130L not reviewed Insufficiently evaluated not reviewed unknown Array rs35993494 1545 10734 0.143935 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - CPZ Arg192Cys R192C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CPZ Arg203Cys R203C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CPZ Arg66Cys R66C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 8 - - CPZ Ile349Thr I349T not reviewed Insufficiently evaluated not reviewed unknown Array rs7378066 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPZ Ile475Thr I475T not reviewed Insufficiently evaluated not reviewed unknown Array rs7378066 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPZ Ile486Thr I486T not reviewed Insufficiently evaluated not reviewed unknown Array rs7378066 10698 10758 0.994423 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CPZ Thr364Met T364M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPZ Thr490Met T490M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPZ Thr501Met T501M not reviewed Insufficiently evaluated not reviewed unknown Array rs9991535 1067 10758 0.099182 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR1 Thr445Ala T445A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - CR1 Ile684Thr I684T not reviewed Insufficiently evaluated not reviewed unknown Array 71 852 0.0833333 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 4 - - CR1 Arg1176His R1176H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR1 Arg1626His R1626H not reviewed Insufficiently evaluated not reviewed unknown Array rs61297619 148 9688 0.0152766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - CR1 His1208Arg H1208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR1 His1658Arg H1658R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274567 1939 9964 0.194601 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR1 Thr1408Met T1408M not reviewed Insufficiently evaluated not reviewed unknown Array rs3737002 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR1 Thr1858Met T1858M not reviewed Insufficiently evaluated not reviewed unknown Array rs3737002 2038 9510 0.214301 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR1 Asn1540Ser N1540S not reviewed Insufficiently evaluated not reviewed unknown Array rs17259045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR1 Asn1990Ser N1990S not reviewed Insufficiently evaluated not reviewed unknown Array rs17259045 787 9958 0.0790319 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR1 Val1561Met V1561M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - CR1 Val2011Met V2011M not reviewed Insufficiently evaluated not reviewed unknown Array rs41274768 190 10102 0.0188082 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR1 Lys1590Glu K1590E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR1 Lys2040Glu K2040E not reviewed Insufficiently evaluated not reviewed unknown Array rs17047660 700 9742 0.0718538 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR1 Arg1601Gly R1601G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR1 Arg2051Gly R2051G not reviewed Insufficiently evaluated not reviewed unknown Array rs17047661 1754 9726 0.180341 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CR1 Thr1610Ser T1610S not reviewed Insufficiently evaluated not reviewed unknown Array rs4844609 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CR1 Thr2060Ser T2060S not reviewed Insufficiently evaluated not reviewed unknown Array rs4844609 9617 9790 0.982329 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CR1 Ile1615Val I1615V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CR1 Ile2065Val I2065V not reviewed Insufficiently evaluated not reviewed unknown Array rs6691117 3761 9816 0.38315 33 0 51 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR1 Pro1827Arg P1827R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CR1 Pro2277Arg P2277R not reviewed Insufficiently evaluated not reviewed unknown Array rs3811381 1623 9906 0.16384 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CR1 Ile1854Phe I1854F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR1 Ile2304Phe I2304F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR1 Thr1969Ala T1969A not reviewed Insufficiently evaluated not reviewed unknown Array rs2296160 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR1 Thr2419Ala T2419A not reviewed Insufficiently evaluated not reviewed unknown Array rs2296160 7996 9778 0.817754 52 0 92 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR1L Arg97Cys R97C not reviewed Insufficiently evaluated not reviewed unknown Array rs72468037 362 9672 0.0374276 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.933 - - 8 Y 3 - 1 - - CR1L Arg116Gly R116G not reviewed Insufficiently evaluated not reviewed unknown Array rs2296158 4938 9724 0.507816 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CR1L Ile139Val I139V not reviewed Insufficiently evaluated not reviewed unknown Array rs3085 880 10100 0.0871287 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.089 - - -4 - 0 N - - CR1L Gly263Val G263V not reviewed Insufficiently evaluated not reviewed unknown Array 366 9892 0.0369996 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CR1L Thr328Met T328M not reviewed Insufficiently evaluated not reviewed unknown Array 10 9878 0.00101235 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.739 - - 2 - 1 N - - CR1L Asn402Asp N402D not reviewed Insufficiently evaluated not reviewed unknown Array rs12729569 1997 9690 0.206089 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - CR1L Ile455Val I455V not reviewed Insufficiently evaluated not reviewed unknown Array rs6683902 6037 9730 0.620452 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR1L Cys475Tyr C475Y not reviewed Insufficiently evaluated not reviewed unknown Array 263 9462 0.0277954 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CR1L Leu491Pro L491P not reviewed Insufficiently evaluated not reviewed unknown Array rs2796257 3326 9608 0.34617 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.065 - - 7 Y 0 N - - CR2 Ser639Asn S639N not reviewed Insufficiently evaluated not reviewed unknown Array rs17615 3637 10758 0.338074 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR2 Ser663Pro S663P not reviewed Insufficiently evaluated not reviewed unknown Array rs4308977 43 128 0.335938 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR2 Arg671His R671H not reviewed Insufficiently evaluated not reviewed unknown Array rs17616 38 128 0.296875 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR2 Ile1052Val I1052V not reviewed Insufficiently evaluated not reviewed unknown Array rs17258982 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR2 Ile993Val I993V not reviewed Insufficiently evaluated not reviewed unknown Array rs17258982 879 10756 0.0817218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR2 Ala1003Glu A1003E not reviewed Insufficiently evaluated not reviewed unknown Array rs6540433 9447 10754 0.878464 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR2 Ala1062Glu A1062E not reviewed Insufficiently evaluated not reviewed unknown Array rs6540433 119 128 0.929688 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CRABP1 Leu100Phe L100F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - CRADD Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73365258 201 10752 0.0186942 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CRAT Val479Gly V479G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CRAT Val500Gly V500G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CRAT Leu351Met L351M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CRAT Leu372Met L372M not reviewed Insufficiently evaluated not reviewed unknown Array rs3118635 10711 10758 0.995631 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CRB1 Arg33Ser R33S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10754 0.0065092 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.647 Y Y 3 - 3 N - - CRB1 Arg769His R769H not reviewed Insufficiently evaluated not reviewed unknown Array rs62636287 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 3 - 2 - - CRB1 Ile800Val I800V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.952 Y Y -4 - 4 N - - CRB2 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array rs73571404 67 10758 0.00622792 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - CRB2 Thr90Asn T90N not reviewed Insufficiently evaluated not reviewed unknown Array rs2808415 10721 10752 0.997117 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CRB2 Met145Thr M145T not reviewed Insufficiently evaluated not reviewed unknown Array rs1105223 4020 10686 0.376193 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CRB2 Gly159Ala G159A not reviewed Insufficiently evaluated not reviewed unknown Array rs1105222 3330 10710 0.310924 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.927 - - 1 - 1 N - - CRB2 Ala295Ser A295S not reviewed Insufficiently evaluated not reviewed unknown Array 303 10756 0.0281703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - CRB2 Val709Ala V709A not reviewed Insufficiently evaluated not reviewed unknown Array rs2488602 10727 10758 0.997118 54 0 108 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CRB2 Thr969Ala T969A not reviewed Insufficiently evaluated not reviewed unknown Array rs2488601 5019 5166 0.971545 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CRB2 Thr1110Met T1110M not reviewed Insufficiently evaluated not reviewed unknown Array rs73571431 648 7530 0.0860558 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.722 - - 2 - 0 N - - CRCP Glu8Gly E8G not reviewed Insufficiently evaluated not reviewed unknown Array 94 3234 0.0290662 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CRCP Leu42Stop L42X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CRCT1 Gly20Ser G20S not reviewed Insufficiently evaluated not reviewed unknown Array rs73004856 577 10738 0.0537344 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CREB3 Lys132Glu K132E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CREB3L1 Ala411Thr A411T not reviewed Insufficiently evaluated not reviewed unknown Array rs35652107 759 10016 0.0757788 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CREB3L2 Thr267Arg T267R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CREB3L2 Val130Ile V130I not reviewed Insufficiently evaluated not reviewed unknown Array rs273957 7683 10758 0.714166 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CREB3L3 Ala456Val A456V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - CREB3L4 Pro95Ser P95S not reviewed Insufficiently evaluated not reviewed unknown Array rs11264743 2479 10758 0.230433 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.542 - - 3 - 0 N - - CREB3L4 Pro145Arg P145R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - CREBBP Pro1570Thr P1570T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CREBBP Pro1608Thr P1608T not reviewed Insufficiently evaluated not reviewed unknown Array rs73491901 30 10758 0.00278862 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CREBBP Ser1005Leu S1005L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CREBBP Ser1043Leu S1043L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731376 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - CREBBP Val954Ile V954I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CREBBP Val992Ile V992I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731383 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CREBZF Glu263Lys E263K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CREG2 Pro96Gln P96Q not reviewed Insufficiently evaluated not reviewed unknown Array 639 5968 0.107071 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 1 - 1 - - CRELD1 Met13Val M13V not reviewed Insufficiently evaluated not reviewed unknown Array rs279552 10672 10758 0.992006 56 0 112 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 - 1 - - CRELD1 Pro128Arg P128R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 5 Y 3 - 1 - - CRELD1 Met379Thr M379T not reviewed Insufficiently evaluated not reviewed unknown Array rs73118372 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 - 2 - - CRELD2 Asp182Glu D182E not reviewed Insufficiently evaluated not reviewed unknown Array rs8139422 2032 10758 0.188883 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CRELD2 Pro207Ala P207A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CRELD2 Glu276Gln E276Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CRELD2 Glu325Gln E325Q not reviewed Insufficiently evaluated not reviewed unknown Array 207 10752 0.0192522 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CRELD2 Ser295Ala S295A not reviewed Insufficiently evaluated not reviewed unknown Array rs11545762 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CRELD2 Ser344Ala S344A not reviewed Insufficiently evaluated not reviewed unknown Array rs11545762 748 10758 0.0695297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CRELD2 Glu325Gly E325G not reviewed Insufficiently evaluated not reviewed unknown Array rs11545763 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CRELD2 Glu374Gly E374G not reviewed Insufficiently evaluated not reviewed unknown Array rs11545763 812 10758 0.0754787 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CRIM1 Gly9Val G9V not reviewed Insufficiently evaluated not reviewed unknown Array 51 9876 0.00516403 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 1 N - - CRIM1 Glu502Lys E502K not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 3 - 3 - - CRIM1 Val781Ile V781I not reviewed Insufficiently evaluated not reviewed unknown Array rs59929305 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CRIP1 Cys52Phe C52F not reviewed Insufficiently evaluated not reviewed unknown Array 94 10756 0.00873931 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - CRIP1 Ala58Val A58V not reviewed Insufficiently evaluated not reviewed unknown Array rs41357545 1909 10756 0.177482 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - CRIP3 Ile188Thr I188T not reviewed Insufficiently evaluated not reviewed unknown Array rs2242416 4677 10732 0.435799 29 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CRIPAK Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 3230 10758 0.300242 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CRIPAK His95Arg H95R not reviewed Insufficiently evaluated not reviewed unknown Array rs9328733 8195 10758 0.761759 41 0 71 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - CRIPAK Leu108His L108H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CRIPAK His132Asp H132D not reviewed Insufficiently evaluated not reviewed unknown Array 2800 10734 0.260853 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CRIPAK Val151Met V151M not reviewed Insufficiently evaluated not reviewed unknown Array 87 10700 0.00813084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - CRIPAK Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array 203 10720 0.0189366 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - CRIPAK Val164Ala V164A not reviewed Insufficiently evaluated not reviewed unknown Array 767 10720 0.0715485 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CRIPAK Glu165Gly E165G not reviewed Insufficiently evaluated not reviewed unknown Array 185 10720 0.0172575 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CRIPAK Thr184Met T184M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CRIPAK Ser198Pro S198P not reviewed Insufficiently evaluated not reviewed unknown Array 336 9920 0.033871 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CRIPAK Cys236Arg C236R not reviewed Insufficiently evaluated not reviewed unknown Array rs71614970 2297 10738 0.213913 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 8 Y 0 N - - CRIPAK Met246Ile M246I not reviewed Insufficiently evaluated not reviewed unknown Array 1306 10752 0.121466 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -1 - 0 N - - CRIPAK Ser268Gly S268G not reviewed Insufficiently evaluated not reviewed unknown Array 3126 10754 0.290683 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CRIPAK Cys276Arg C276R not reviewed Insufficiently evaluated not reviewed unknown Array 121 10754 0.0112516 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - CRIPAK Pro285Leu P285L not reviewed Insufficiently evaluated not reviewed unknown Array 144 10754 0.0133904 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - CRIPAK Met286Thr M286T not reviewed Insufficiently evaluated not reviewed unknown Array rs71614972 8111 10754 0.754231 14 0 24 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CRIPAK Ser288Gly S288G not reviewed Insufficiently evaluated not reviewed unknown Array rs71614973 3286 10752 0.305618 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CRIPAK Arg290His R290H not reviewed Insufficiently evaluated not reviewed unknown Array 45 10748 0.00418682 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - CRIPAK Trp349Arg W349R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - CRIPAK Arg356His R356H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - CRIPAK Val370Ala V370A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - CRISP1 Gly179Arg G179R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 6 Y 1 N - - CRISP1 Thr97Ala T97A not reviewed Insufficiently evaluated not reviewed unknown Array rs3209304 1168 10758 0.10857 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.182 - - 1 - 0 N - - CRISP2 Cys196Arg C196R not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 10 - - CRISP3 Ala134Ser A134S not reviewed Insufficiently evaluated not reviewed unknown Array rs1864312 4175 10758 0.388083 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - CRISP3 Ser106Pro S106P not reviewed Insufficiently evaluated not reviewed unknown Array rs495335 7521 10758 0.699108 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CRISPLD2 Ser105Gly S105G not reviewed Insufficiently evaluated not reviewed unknown Array rs12051468 4493 10758 0.417643 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CRISPLD2 Met294Leu M294L not reviewed Insufficiently evaluated not reviewed unknown Array rs72799568 431 10758 0.0400632 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.179 - - -3 - 0 N - - CRISPLD2 Thr322Ser T322S not reviewed Insufficiently evaluated not reviewed unknown Array rs721005 4771 10758 0.443484 43 0 55 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - CRISPLD2 Asp390Tyr D390Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CRISPLD2 Ala434Gly A434G not reviewed Insufficiently evaluated not reviewed unknown Array rs35711987 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.609 - - 1 - 1 N - - CRKL Gln22Lys Q22K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CRKRS Pro653Ser P653S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CRKRS Leu1189Gln L1189Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - CRKRS Asn1230Lys N1230K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRLF1 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.07 - - 0 - 0 N - - CRLF3 Leu389Pro L389P not reviewed Insufficiently evaluated not reviewed unknown Array rs11867457 2040 10758 0.189626 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.191 - - 7 Y 0 N - - CRLF3 Gln326His Q326H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - CRLS1 Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array rs6085343 189 2798 0.0675482 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - CRLS1 Pro193Leu P193L not reviewed Insufficiently evaluated not reviewed unknown Array rs41282950 969 10756 0.0900893 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 1 N - - CRLS1 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CRLS1 Tyr196Cys Y196C not reviewed Insufficiently evaluated not reviewed unknown Array rs58014205 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - CRLS1 Tyr97Cys Y97C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CRMP1 Val461Ile V461I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CRMP1 Val575Ile V575I not reviewed Insufficiently evaluated not reviewed unknown Array rs34611001 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CRMP1 Gly100Ala G100A not reviewed Insufficiently evaluated not reviewed unknown Array 146 2036 0.0717092 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CRNKL1 Pro566Ala P566A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CRNKL1 Ile565Asn I565N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 7 Y 2 N - - CRNKL1 Val403Met V403M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.677 - - 0 - 1 N - - CRNKL1 Thr158Ala T158A not reviewed Insufficiently evaluated not reviewed unknown Array rs2255255 4955 10758 0.460587 23 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CRNKL1 Gln120Lys Q120K not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CRNKL1 Gln111His Q111H not reviewed Insufficiently evaluated not reviewed unknown Array rs2255258 6378 10758 0.592861 44 0 71 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CRNKL1 Ser83Thr S83T not reviewed Insufficiently evaluated not reviewed unknown Array rs2273056 504 10756 0.0468576 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - CRNKL1 Phe51Leu F51L not reviewed Insufficiently evaluated not reviewed unknown Array rs2273058 4919 10740 0.458007 36 0 49 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 0 N - - CRNKL1 Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array rs7508949 3414 10686 0.319483 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CRNN Gly480Ser G480S not reviewed Insufficiently evaluated not reviewed unknown Array rs3829868 1380 10758 0.128277 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - CRNN Gln374His Q374H not reviewed Insufficiently evaluated not reviewed unknown Array rs6695830 728 10758 0.0676706 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.741 - - -1 - 0 N - - CRNN Arg372Gly R372G not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CRNN Ala27Val A27V not reviewed Insufficiently evaluated not reviewed unknown Array rs35639220 616 10758 0.0572597 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - CROCC Arg7Gly R7G not reviewed Insufficiently evaluated not reviewed unknown Array rs6586566 10379 10380 0.999904 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CROCC Glu283Lys E283K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - CROCC Arg352Gln R352Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10584 0.00491308 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - CROCC Arg372Gln R372Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57442576 1172 10754 0.108983 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.528 - - 0 - 0 N - - CROCC Ala439Val A439V not reviewed Insufficiently evaluated not reviewed unknown Array rs4463721 2849 10616 0.268369 32 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CROCC Pro511Ser P511S not reviewed Insufficiently evaluated not reviewed unknown Array rs9435793 3010 9698 0.310373 25 0 26 0 0 - - - - - - - - - - - - - - - - 0.94 - - 3 - 1 N - - CROCC Glu562Gln E562Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10738 0.00344571 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - CROCC Asp586His D586H not reviewed Insufficiently evaluated not reviewed unknown Array rs9435714 1947 10692 0.182099 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - CROCC Thr824Met T824M not reviewed Insufficiently evaluated not reviewed unknown Array 429 10326 0.0415456 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.351 - - 2 - 1 N - - CROCC Ala1073Val A1073V not reviewed Insufficiently evaluated not reviewed unknown Array 81 10754 0.00753208 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - CROCC Thr1361Ala T1361A not reviewed Insufficiently evaluated not reviewed unknown Array 699 10224 0.0683685 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CROCC Leu1440Arg L1440R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CROCC Arg1441Gly R1441G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CROCC Leu1446Pro L1446P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CROCC Pro1450Ser P1450S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CROCC Pro1477Ser P1477S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CROCC Ser1744Gly S1744G not reviewed Insufficiently evaluated not reviewed unknown Array rs56278097 1188 10756 0.11045 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CROCC Arg1795Gly R1795G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CROCC Gly1810Ser G1810S not reviewed Insufficiently evaluated not reviewed unknown Array 59 10756 0.00548531 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CROCC Val1833Ile V1833I not reviewed Insufficiently evaluated not reviewed unknown Array 19 9750 0.00194872 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CROP Arg246Pro R246P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - CROT Thr120Ala T120A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - CROT Thr148Ala T148A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CROT Thr459Arg T459R not reviewed Insufficiently evaluated not reviewed unknown Array rs111402688 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - CROT Thr487Arg T487R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CROT Val460Gly V460G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.124 - - 8 Y 0 N - - CROT Val488Gly V488G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CRP Thr59Met T59M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - CRTAC1 Glu658Lys E658K not reviewed Insufficiently evaluated not reviewed unknown Array rs56007204 1697 10758 0.157743 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CRTAC1 Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - CRTAM Ala78Asp A78D not reviewed Insufficiently evaluated not reviewed unknown Array rs34397316 383 10758 0.0356014 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CRTAM Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - CRTAM Thr253Ile T253I not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - CRTAM Lys321Arg K321R not reviewed Insufficiently evaluated not reviewed unknown Array rs2272094 6639 10758 0.617122 38 0 61 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - CRTAM Ala368Gly A368G not reviewed Insufficiently evaluated not reviewed unknown Array rs1916036 244 10758 0.0226808 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.84 - - 1 - 1 N - - CRTC1 Val311Ile V311I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - -4 - 1 N - - CRTC1 Val327Ile V327I not reviewed Insufficiently evaluated not reviewed unknown Array rs36070283 753 10758 0.0699944 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CRTC1 Thr328Ala T328A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 1 - 1 N - - CRTC1 Thr344Ala T344A not reviewed Insufficiently evaluated not reviewed unknown Array rs3746266 1398 10758 0.12995 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CRTC2 Met147Val M147V not reviewed Insufficiently evaluated not reviewed unknown Array rs11264680 2612 10758 0.242796 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 0 N - - CRTC3 Ser72Asn S72N not reviewed Insufficiently evaluated not reviewed unknown Array rs8033595 5340 10758 0.496375 33 0 44 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 0 N - - CRY1 Gly144Val G144V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 8 Y 2 N - - CRYBA1 Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 7 Y 0 N - - CRYBA2 Arg169Gln R169Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - CRYBA2 Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - CRYBB1 Lys160Arg K160R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - -3 - 0 N - - CRYBB3 His113Asp H113D not reviewed Insufficiently evaluated not reviewed unknown Array rs9608378 6208 10758 0.577059 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CRYBG3 Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array rs73851083 64 9764 0.00655469 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - CRYBG3 Lys164Thr K164T not reviewed Insufficiently evaluated not reviewed unknown Array 42 9910 0.00423814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CRYBG3 Tyr318Cys Y318C not reviewed Insufficiently evaluated not reviewed unknown Array rs55680275 59 9472 0.00622889 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - CRYBG3 Lys432Arg K432R not reviewed Insufficiently evaluated not reviewed unknown Array 7 9480 0.000738396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - CRYBG3 Asn926His N926H not reviewed Insufficiently evaluated not reviewed unknown Array rs4857302 4300 9666 0.444858 36 0 51 0 0 - - - - - - - - - - - - - - - - 0.485 - - 0 - 0 N - - CRYGB Ile111Leu I111L not reviewed Insufficiently evaluated not reviewed unknown Array rs796287 7701 10758 0.715839 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CRYGC Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array rs61751949 119 10758 0.0110615 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 3 - - CRYL1 Leu222Phe L222F not reviewed Insufficiently evaluated not reviewed unknown Array 3 9956 0.000301325 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CRYZ Glu183Lys E183K not reviewed Insufficiently evaluated not reviewed unknown Array rs17095822 212 10756 0.0197099 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 1 - 5 - - CRYZ Glu46Lys E46K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - CRYZ Ile176Val I176V not reviewed Insufficiently evaluated not reviewed unknown Array rs3819946 2580 10756 0.239866 23 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CRYZ Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array rs3819946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CRYZL1 Val259Leu V259L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - CRYZL1 Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 181 10756 0.0168278 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.397 - - 1 - 1 N - - CS Gln187Arg Q187R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - CSAD Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSAG1 Tyr28Phe Y28F not reviewed Insufficiently evaluated not reviewed unknown Array 1149 8761 0.131149 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CSAG1 Tyr28Stop Y28X not reviewed Insufficiently evaluated not reviewed unknown Array 1166 8761 0.13309 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CSAG1 Lys62Arg K62R not reviewed Insufficiently evaluated not reviewed unknown Array rs2515848 5523 8761 0.630408 39 0 67 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CSDA Arg236Trp R236W not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSDA Thr75Ala T75A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126501 1139 9470 0.120275 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 6 - - CSF1 Phe175Leu F175L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.294 - - 0 - 1 N - - CSF1 Leu408Pro L408P not reviewed Insufficiently evaluated not reviewed unknown Array rs1058885 4269 10758 0.396821 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CSF1 Gly438Arg G438R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229165 572 10758 0.0531697 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 1 N - - CSF1 Phe191Ser F191S not reviewed Insufficiently evaluated not reviewed unknown Array rs333971 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CSF1 Phe373Ser F373S not reviewed Insufficiently evaluated not reviewed unknown Array rs333971 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CSF1 Phe489Ser F489S not reviewed Insufficiently evaluated not reviewed unknown Array rs333971 10724 10758 0.99684 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CSF1R His362Arg H362R not reviewed Insufficiently evaluated not reviewed unknown Array rs10079250 776 10426 0.0744293 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CSF1R Ala245Ser A245S not reviewed Insufficiently evaluated not reviewed unknown Array rs41338945 333 10758 0.0309537 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - CSF2 Ile117Thr I117T not reviewed Insufficiently evaluated not reviewed unknown Array rs25882 2690 10758 0.250046 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSF2RA Ala17Gly A17G not reviewed Insufficiently evaluated not reviewed unknown Array rs67006588 2445 10750 0.227442 22 0 31 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - CSF2RA Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSF2RA Arg358Leu R358L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSF2RB Glu249Gln E249Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16845 1145 10758 0.106432 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CSF2RB Pro508His P508H not reviewed Insufficiently evaluated not reviewed unknown Array rs73405902 4 10756 0.000371885 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - CSF2RB Val652Met V652M not reviewed Insufficiently evaluated not reviewed unknown Array rs1801114 632 10650 0.0593427 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - CSF3 Leu150Met L150M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 6 - - CSF3 Leu154Met L154M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 6 - - CSF3 Leu157Met L157M not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 1 - 6 - - CSF3R Gly683Arg G683R not reviewed Insufficiently evaluated not reviewed unknown Array rs3918001 11 128 0.0859375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CSF3R Asp320Asn D320N not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSGALNACT1 Ser193Asn S193N not reviewed Insufficiently evaluated not reviewed unknown Array rs7017776 7938 10758 0.73787 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CSGALNACT1 Leu21Phe L21F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSGALNACT2 Pro479Ser P479S not reviewed Insufficiently evaluated not reviewed unknown Array rs2435381 2140 10758 0.198922 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - CSGLCA-T Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSGLCA-T Ala401Val A401V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSGLCA-T Gly661Ala G661A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSGLCA-T Arg718Gln R718Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSGLCA-T Arg744Cys R744C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSH1 Pro200Thr P200T not reviewed Insufficiently evaluated not reviewed unknown Array rs61764001 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSH1 Lys183Gln K183Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSH1 Phe180Cys F180C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSH1 Tyr175His Y175H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - CSH1 Ser168Stop S168X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CSH1 Thr160Ala T160A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSH1 Pro3Ala P3A not reviewed Insufficiently evaluated not reviewed unknown Array 1 34 0.0294118 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - CSH2 Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSH2 Thr149Met T149M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSHL1 Val117Met V117M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSHL1 Val128Met V128M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSHL1 Val188Met V188M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSHL1 Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10754 0.00204575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSHL1 Asp118Glu D118E not reviewed Insufficiently evaluated not reviewed unknown Array rs2727307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSHL1 Asp141Glu D141E not reviewed Insufficiently evaluated not reviewed unknown Array rs2727307 3395 10758 0.315579 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CSHL1 Asp47Glu D47E not reviewed Insufficiently evaluated not reviewed unknown Array rs2727307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSHL1 Asp58Glu D58E not reviewed Insufficiently evaluated not reviewed unknown Array rs2727307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSHL1 Phe83Leu F83L not reviewed Insufficiently evaluated not reviewed unknown Array 353 10758 0.0328128 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Arg3430Stop R3430X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CSMD1 Thr3371Ser T3371S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSMD1 Gln3193Lys Q3193K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSMD1 Pro3153Ala P3153A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Val2860Leu V2860L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Val2543Ala V2543A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Asn2279Asp N2279D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSMD1 Arg1929Gly R1929G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSMD1 Pro1781Ala P1781A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Gln1749Stop Q1749X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CSMD1 Leu1595Val L1595V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Gly1216Val G1216V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSMD1 Val1192Met V1192M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Ile1038Val I1038V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD1 Val849Ile V849I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD1 Val636Ile V636I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD2 Asn2666Ser N2666S not reviewed Insufficiently evaluated not reviewed unknown Array rs34047235 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - CSMD2 Leu2661Val L2661V not reviewed Insufficiently evaluated not reviewed unknown Array rs34850622 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 1 N - - CSMD2 Arg2637His R2637H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CSMD2 Met2554Val M2554V not reviewed Insufficiently evaluated not reviewed unknown Array rs2641962 65 128 0.507812 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CSMD2 Gly2191Ser G2191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - CSMD2 Asn2190His N2190H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CSMD2 Val2108Gly V2108G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.953 - - 8 Y 2 N - - CSMD2 Arg2096Lys R2096K not reviewed Insufficiently evaluated not reviewed unknown Array rs1874045 66 128 0.515625 40 0 51 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - CSMD2 Glu2042Lys E2042K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746666 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CSMD2 Glu1760Asp E1760D not reviewed Insufficiently evaluated not reviewed unknown Array rs35761029 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - CSMD2 His538Arg H538R not reviewed Insufficiently evaluated not reviewed unknown Array rs474474 54 128 0.421875 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CSMD2 Leu167Pro L167P not reviewed Insufficiently evaluated not reviewed unknown Array rs16836099 19 128 0.148438 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CSMD2 Trp12Cys W12C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - CSMD3 Asn3452His N3452H not reviewed Insufficiently evaluated not reviewed unknown Array rs1592624 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Asn3581His N3581H not reviewed Insufficiently evaluated not reviewed unknown Array rs1592624 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Asn3621His N3621H not reviewed Insufficiently evaluated not reviewed unknown Array rs1592624 7227 10752 0.672154 51 0 89 0 0 - - - - - - - - - - - - - - - - 0.588 - - 0 - 0 N - - CSMD3 Leu3319Pro L3319P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD3 Leu3448Pro L3448P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD3 Leu3488Pro L3488P not reviewed Insufficiently evaluated not reviewed unknown Array rs61753736 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - CSMD3 Asn3039Ile N3039I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD3 Asn3168Ile N3168I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD3 Asn3208Ile N3208I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - CSMD3 Asp2668Glu D2668E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSMD3 Asp2797Glu D2797E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSMD3 Asp2837Glu D2837E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - -2 - 2 N - - CSMD3 Arg1124Gln R1124Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Arg1188Gln R1188Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Arg1228Gln R1228Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61753739 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - CSMD3 Ser209Asn S209N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Ser249Asn S249N not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - CSMD3 Ile179Met I179M not reviewed Insufficiently evaluated not reviewed unknown Array rs2219898 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSMD3 Ile219Met I219M not reviewed Insufficiently evaluated not reviewed unknown Array rs2219898 3352 10758 0.311582 36 0 43 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - CSN1S1 Ala108Val A108V not reviewed Insufficiently evaluated not reviewed unknown Array rs10030475 45 126 0.357143 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CSN1S1 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array rs10030475 3437 9308 0.369252 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CSN3 Arg96Trp R96W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - CSN3 Arg110Leu R110L not reviewed Insufficiently evaluated not reviewed unknown Array rs1048152 1026 10758 0.0953709 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - CSN3 Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array rs3775739 1115 10758 0.103644 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CSNK1A1L Ser218Thr S218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CSNK1A1L Arg170Ser R170S not reviewed Insufficiently evaluated not reviewed unknown Array rs17773251 902 10758 0.0838446 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.9 - - 3 - 2 - 3 - - CSNK1A1L Tyr79Cys Y79C not reviewed Insufficiently evaluated not reviewed unknown Array rs73547848 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - CSNK1A1L Asp42Glu D42E not reviewed Insufficiently evaluated not reviewed unknown Array rs9576175 5531 10758 0.514129 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CSNK1D Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10540 0.00189753 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSNK1G2 Gly10Arg G10R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - CSNK2A1 Pro246Thr P246T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSNK2A1 Pro382Thr P382T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSNK2A1 Met215Val M215V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSNK2A1 Met351Val M351V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSPG4 Arg1703His R1703H not reviewed Insufficiently evaluated not reviewed unknown Array rs8023621 3521 10758 0.327291 24 0 31 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CSPG4 Gly1203Ser G1203S not reviewed Insufficiently evaluated not reviewed unknown Array 4 104 0.0384615 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - CSPG4 Leu1198Ile L1198I not reviewed Insufficiently evaluated not reviewed unknown Array 3 66 0.0454545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CSPG4 Ala684Val A684V not reviewed Insufficiently evaluated not reviewed unknown Array 140 10756 0.013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.425 - - 2 - 1 N - - CSPG4 Pro661Arg P661R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CSPG4 Arg619Gln R619Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4886730 58 10624 0.00545934 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - CSPG4 Val594Leu V594L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSPG4 Ala488Thr A488T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 1 - 0 N - - CSPG4 Ala445Val A445V not reviewed Insufficiently evaluated not reviewed unknown Array 1199 10756 0.111473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CSPG4 Glu441Lys E441K not reviewed Insufficiently evaluated not reviewed unknown Array 1159 10754 0.107774 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 0 N - - CSPG4 Thr305Met T305M not reviewed Insufficiently evaluated not reviewed unknown Array 543 10750 0.0505116 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 2 - 1 N - - CSPG4 Ile298Thr I298T not reviewed Insufficiently evaluated not reviewed unknown Array 462 10752 0.0429688 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - CSPG4 Asn275Lys N275K not reviewed Insufficiently evaluated not reviewed unknown Array 907 10754 0.0843407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - CSPG5 Gly188Val G188V not reviewed Insufficiently evaluated not reviewed unknown Array rs3732530 6080 10758 0.565161 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CSPG5 Ala164Gly A164G not reviewed Insufficiently evaluated not reviewed unknown Array rs35863063 213 10750 0.019814 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSPP1 Gln595Glu Q595E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSPP1 Gln630Glu Q630E not reviewed Insufficiently evaluated not reviewed unknown Array 23 9692 0.00237309 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSPP1 Arg872His R872H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSPP1 Arg907His R907H not reviewed Insufficiently evaluated not reviewed unknown Array rs16933182 1093 9608 0.113759 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CSRNP1 Val453Ile V453I not reviewed Insufficiently evaluated not reviewed unknown Array rs1274958 8294 10758 0.770961 49 0 82 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CSRNP3 Val460Leu V460L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738743 460 10758 0.0427589 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 1 N - - CSRP1 Lys108Ile K108I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 6 Y 3 - 5 - - CSRP2BP Gly248Val G248V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSRP2BP Gly376Val G376V not reviewed Insufficiently evaluated not reviewed unknown Array rs73899803 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - CSRP2BP Val272Gly V272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSRP2BP Val400Gly V400G not reviewed Insufficiently evaluated not reviewed unknown Array rs1205193 10535 10758 0.979271 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CSRP2BP Pro472Arg P472R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - CSRP2BP Pro600Arg P600R not reviewed Insufficiently evaluated not reviewed unknown Array rs11557577 311 10758 0.0289087 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 1 - - CST1 Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array 453 10758 0.0421082 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - CST1 Pro31Leu P31L not reviewed Insufficiently evaluated not reviewed unknown Array rs2070856 1736 10758 0.161368 17 0 16 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - CST1 Ser22Arg S22R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 3 - 1 - - CST1 Tyr4His Y4H not reviewed Insufficiently evaluated not reviewed unknown Array rs6076122 8301 10756 0.771755 21 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CST2 Glu140Asp E140D not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - CST2 Gly79Asp G79D not reviewed Insufficiently evaluated not reviewed unknown Array rs45539436 454 10758 0.0422012 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - CST2 Arg69Trp R69W not reviewed Insufficiently evaluated not reviewed unknown Array rs55860552 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CST3 Ala25Thr A25T pathogenic Insufficiently evaluated pathogenic unknown Array rs1064039 1579 9258 0.170555 2 0 1 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 2 N - - Associated with age-related macular degeneration and alzheimer's disease. CST4 Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array rs73902130 338 10758 0.0314185 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - CST4 Leu8Gln L8Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73902131 339 10758 0.0315114 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.84 - - 5 Y 1 N - - CST5 Cys46Arg C46R not reviewed Insufficiently evaluated not reviewed unknown Array rs1799841 5854 10758 0.544153 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CST7 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array rs227653 1281 10756 0.119096 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CST8 Gly30Ala G30A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CST8 Ala52Val A52V not reviewed Insufficiently evaluated not reviewed unknown Array rs35190670 219 10758 0.0203569 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - CST9 Leu48Phe L48F not reviewed Insufficiently evaluated not reviewed unknown Array rs2983640 4936 10758 0.458821 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CST9 Ser2Leu S2L not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - CST9L His109Pro H109P not reviewed Insufficiently evaluated not reviewed unknown Array rs2295564 3759 10758 0.349414 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CSTA Lys91Asn K91N not reviewed Insufficiently evaluated not reviewed unknown Array rs34021626 211 10758 0.0196133 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 1 - 3 - - CSTA Thr96Met T96M not reviewed Insufficiently evaluated not reviewed unknown Array rs34173813 1223 10758 0.113683 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.876 - - 2 - 1 N - - CSTF1 Met151Ile M151I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - -1 - 2 N - - CSTF2 Leu4Phe L4F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.245 - - 0 - 1 N - - CSTL1 Thr59Ala T59A not reviewed Insufficiently evaluated not reviewed unknown Array rs7361799 405 10758 0.0376464 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.553 - - 1 - 1 N - - CSTL1 Arg66Lys R66K not reviewed Insufficiently evaluated not reviewed unknown Array rs17757442 688 10758 0.0639524 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CSTL1 Trp88Arg W88R not reviewed Insufficiently evaluated not reviewed unknown Array rs3746736 6503 10758 0.60448 52 0 75 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CSTL1 Thr96Met T96M not reviewed Insufficiently evaluated not reviewed unknown Array rs3746737 762 10758 0.070831 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 1 N - - CT45A5 Gly104Glu G104E not reviewed Insufficiently evaluated not reviewed unknown Array 113 8724 0.0129528 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 6 Y 1 N - - CT45A5 Glu55Ala E55A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTAG2 Pro99Ala P99A not reviewed Insufficiently evaluated not reviewed unknown Array rs5987003 243 8759 0.0277429 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTAG2 Gln89Glu Q89E not reviewed Insufficiently evaluated not reviewed unknown Array rs17328091 4702 8751 0.53731 20 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CTAG2 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731293 87 8744 0.00994968 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTAG2 Gln6Arg Q6R not reviewed Insufficiently evaluated not reviewed unknown Array rs17855367 641 5930 0.108094 17 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTAGE1 Ile682Met I682M not reviewed Insufficiently evaluated not reviewed unknown Array rs61747183 181 10678 0.0169507 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTAGE1 Ile682Val I682V not reviewed Insufficiently evaluated not reviewed unknown Array rs9946136 2576 10680 0.241198 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CTAGE1 Ile324Val I324V not reviewed Insufficiently evaluated not reviewed unknown Array rs12961009 353 10526 0.033536 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTAGE4 Glu155Gln E155Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTAGE4 Glu237Gln E237Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTAGE4 Thr288Met T288M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTAGE4 Glu421Gly E421G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE4 Ile423Leu I423L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTAGE4 Ala364Glu A364E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTAGE5 Val6Ala V6A not reviewed Insufficiently evaluated not reviewed unknown Array rs7140561 10193 10758 0.947481 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CTAGE5 Gln133Arg Q133R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE5 Gln150Arg Q150R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE5 Gln162Arg Q162R not reviewed Insufficiently evaluated not reviewed unknown Array rs73277460 219 10722 0.0204253 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CTAGE5 Lys176Asn K176N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTAGE5 Lys193Asn K193N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTAGE5 Lys205Asn K205N not reviewed Insufficiently evaluated not reviewed unknown Array rs17855896 468 10758 0.0435025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 1 - 0 N - - CTAGE5 Lys221Glu K221E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CTAGE5 Lys238Glu K238E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CTAGE5 Lys250Glu K250E not reviewed Insufficiently evaluated not reviewed unknown Array rs10162564 192 10750 0.0178605 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 2 - - CTAGE5 Glu331Gln E331Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1950952 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTAGE5 Glu348Gln E348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1950952 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - CTAGE5 Glu360Gln E360Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1950952 6297 10480 0.600859 43 0 62 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - CTAGE5 Ile656Val I656V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTAGE5 Ile670Val I670V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTAGE5 Ile687Val I687V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTAGE5 Ile699Val I699V not reviewed Insufficiently evaluated not reviewed unknown Array rs1140952 3778 10758 0.351181 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CTAGE5 Arg672Gly R672G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE5 Arg686Gly R686G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE5 Arg703Gly R703G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE5 Arg715Gly R715G not reviewed Insufficiently evaluated not reviewed unknown Array rs61742363 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CTAGE5 Gly695Arg G695R not reviewed Insufficiently evaluated not reviewed unknown Array rs1060878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE5 Gly709Arg G709R not reviewed Insufficiently evaluated not reviewed unknown Array rs1060878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE5 Gly726Arg G726R not reviewed Insufficiently evaluated not reviewed unknown Array rs1060878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTAGE5 Gly738Arg G738R not reviewed Insufficiently evaluated not reviewed unknown Array rs1060878 3768 10754 0.350381 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CTBP2 Asn438Ser N438S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Asn978Ser N978S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Pro367Leu P367L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - CTBP2 Pro907Leu P907L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTBP2 Ile341Leu I341L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - -2 - 1 N - - CTBP2 Ile881Leu I881L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTBP2 Ala336Thr A336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTBP2 Ala876Thr A876T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTBP2 His298Asn H298N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - CTBP2 His838Asn H838N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Lys279Arg K279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTBP2 Lys819Arg K819R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTBP2 His248Leu H248L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CTBP2 His788Leu H788L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTBP2 Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - CTBP2 Val779Ile V779I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTBP2 Ser236Asn S236N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - CTBP2 Ser776Asn S776N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Leu232Trp L232W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CTBP2 Leu772Trp L772W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CTBP2 Gln224His Q224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.346 - - -1 - 1 N - - CTBP2 Gln764His Q764H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTBP2 Val223Met V223M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - CTBP2 Val763Met V763M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Arg219Gln R219Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CTBP2 Arg759Gln R759Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Asp210Tyr D210Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CTBP2 Asp750Tyr D750Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTBP2 Ile207Met I207M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - CTBP2 Ile747Met I747M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTBP2 Ala175Val A175V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 2 N - - CTBP2 Ala715Val A715V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTBP2 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CTBP2 Arg709Cys R709C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CTBP2 Val165Met V165M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.624 - - 0 - 1 N - - CTBP2 Val705Met V705M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Ser164Asn S164N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.794 - - 0 - 2 - 1 - - CTBP2 Ser704Asn S704N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Arg157Trp R157W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CTBP2 Arg697Trp R697W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTBP2 Leu145Met L145M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - CTBP2 Leu685Met L685M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTBP2 Asn125Ser N125S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.921 - - 0 - 2 N - - CTBP2 Asn665Ser N665S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Ile104Met I104M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - CTBP2 Ile644Met I644M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTBP2 Ile104Val I104V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.355 - - -4 - 1 N - - CTBP2 Ile644Val I644V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTBP2 Arg103Gly R103G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CTBP2 Arg643Gly R643G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTBP2 Thr626Ser T626S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTBP2 Thr86Ser T86S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CTBP2 Ile625Phe I625F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTBP2 Ile85Phe I85F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.855 - - 2 - 2 N - - CTBP2 Ala616Val A616V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTBP2 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.593 - - 2 - 1 N - - CTBP2 Glu47Asp E47D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - -2 - 2 N - - CTBP2 Glu587Asp E587D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTBP2 Gln539Glu Q539E not reviewed Insufficiently evaluated not reviewed unknown Array rs2946994 4872 10758 0.452872 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CTBP2 Val461Met V461M not reviewed Insufficiently evaluated not reviewed unknown Array rs73375140 40 10756 0.00371885 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Tyr455His Y455H not reviewed Insufficiently evaluated not reviewed unknown Array rs3012075 4677 10750 0.43507 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CTBP2 Arg398Leu R398L not reviewed Insufficiently evaluated not reviewed unknown Array rs7067816 386 10382 0.0371797 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTBP2 Pro397Ala P397A not reviewed Insufficiently evaluated not reviewed unknown Array 284 10376 0.0273709 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTBP2 Leu392Pro L392P not reviewed Insufficiently evaluated not reviewed unknown Array rs3781412 2814 10308 0.272992 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CTBP2 Arg298Gln R298Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3781411 1298 10758 0.120654 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTBP2 Thr288Ile T288I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTBP2 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array rs3781409 2338 10756 0.217367 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTBP2 Asp213Asn D213N not reviewed Insufficiently evaluated not reviewed unknown Array rs3781408 661 10758 0.0614426 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CTBP2 Lys8Stop K8X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CTBP2 His7Arg H7R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.649 - - 1 - 1 N - - CTBS Leu382Pro L382P not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CTBS Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array rs15911 1998 10754 0.185791 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.953 - - -4 - 1 N - - CTCFL Met447Val M447V not reviewed Insufficiently evaluated not reviewed unknown Array rs41305825 529 10758 0.0491727 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTCFL Thr177Ala T177A not reviewed Insufficiently evaluated not reviewed unknown Array rs6025606 7707 10758 0.716397 48 0 80 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CTCFL Glu50Gln E50Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6070128 3359 10758 0.312233 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CTDP1 Ser61Ala S61A not reviewed Insufficiently evaluated not reviewed unknown Array 2349 3566 0.658721 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - CTDP1 Thr340Met T340M not reviewed Insufficiently evaluated not reviewed unknown Array rs2279103 1389 10758 0.129113 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 2 - 2 - 1 - - CTDP1 Ile639Val I639V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -4 - 2 - 1 - - CTDSP1 Ala56Thr A56T not reviewed Insufficiently evaluated not reviewed unknown Array rs2227249 205 10758 0.0190556 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTDSP2 Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - CTDSP2 Lys201Asn K201N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CTDSP2 Val146Met V146M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - CTDSP2 Lys142Met K142M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - CTDSP2 Ile106Thr I106T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CTDSP2 Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CTDSP2 Asp98Asn D98N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.8 - - -1 - 1 N - - CTDSP2 Glu97Lys E97K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTDSP2 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTDSP2 Arg11Trp R11W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - CTDSP2 His3Gln H3Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - -1 - 1 N - - CTDSPL Ser159Arg S159R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTDSPL Ser170Arg S170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - CTDSPL Phe177Val F177V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTDSPL Phe188Val F188V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - CTDSPL2 Lys427Arg K427R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - CTDSPL2 Lys434Asn K434N not reviewed Insufficiently evaluated not reviewed unknown Array rs61378134 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.782 - - 1 - 1 N - - CTGF His83Asp H83D not reviewed Insufficiently evaluated not reviewed unknown Array rs7451102 12 12 1 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CTH Ser359Ile S359I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - Y - Y - 5 Y 4 N 1 - - CTH Ser403Ile S403I not reviewed Insufficiently evaluated not reviewed unknown Array rs1021737 2553 10758 0.237312 19 0 24 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 - 10 - - CTHRC1 Gly203Glu G203E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CTHRC1 Gly205Val G205V not reviewed Insufficiently evaluated not reviewed unknown Array rs35877609 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - CTLA4 Thr17Ala T17A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs231775 3986 10758 0.370515 30 0 40 1 1 - - - - - - - - - - - - - - - Y 0.001 - - 1 - 1 N - - CTLA4 Pro169Ala P169A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTNNA1 Ala179Val A179V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTNNA1 Asn257Ser N257S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTNNA2 Ser310Ile S310I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CTNNA2 Ser310Asn S310N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTNNA2 Ile365Thr I365T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754542 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTNNA3 Ser596Asn S596N not reviewed Insufficiently evaluated not reviewed unknown Array rs4548513 5034 10758 0.467931 42 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTNNA3 Thr552Met T552M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737718 312 10758 0.0290017 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTNNA3 Arg535Cys R535C not reviewed Insufficiently evaluated not reviewed unknown Array rs41274090 114 10758 0.0105968 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.525 - - 8 Y 2 - 2 - - CTNNA3 Ala530Ser A530S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - CTNNA3 Asp529Glu D529E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.319 - - -2 - 1 N - - CTNNAL1 Arg598Trp R598W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - CTNNAL1 Glu527Gln E527Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7021366 2249 10756 0.209093 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.463 - - -2 - 0 N - - CTNNBL1 Leu245Val L245V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 0 - 1 N - - CTNS Thr260Ile T260I not reviewed Insufficiently evaluated not reviewed unknown Array rs161400 8913 10758 0.8285 54 0 92 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 2 - - CTNS Pro380Ala P380A not reviewed Insufficiently evaluated not reviewed unknown Array rs2873624 2039 10758 0.189533 18 0 25 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - CTPS Tyr473His Y473H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - -1 - 1 N - - CTRB1 Cys19Trp C19W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CTRB1 Asp222His D222H not reviewed Insufficiently evaluated not reviewed unknown Array rs8061550 328 10758 0.0304889 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 2 - 3 - - CTRB2 Ala250Thr A250T not reviewed Insufficiently evaluated not reviewed unknown Array rs4737 8089 10758 0.751906 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CTRC Tyr49His Y49H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - -1 - 3 N - - CTRC Lys172Glu K172E not reviewed Insufficiently evaluated not reviewed unknown Array rs34949635 322 10758 0.0299312 5 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 2 - 2 - - CTRL His173Arg H173R not reviewed Insufficiently evaluated not reviewed unknown Array rs1134760 2957 10758 0.274865 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CTRL Thr150Ile T150I not reviewed Insufficiently evaluated not reviewed unknown Array rs11552953 473 10758 0.0439673 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 1 - 3 - - CTRL Gln48His Q48H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 10 - - CTSB Gly284Ala G284A not reviewed Insufficiently evaluated not reviewed unknown Array rs73209021 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 1 - 2 N - - CTSB Ser235Asn S235N not reviewed Insufficiently evaluated not reviewed unknown Array rs17573 495 10758 0.0460123 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTSB Ser53Gly S53G not reviewed Insufficiently evaluated not reviewed unknown Array rs1803250 1188 10758 0.110429 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - CTSB Leu26Val L26V not reviewed Insufficiently evaluated not reviewed unknown Array rs12338 3915 10758 0.363915 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTSC Ile453Val I453V not reviewed Insufficiently evaluated not reviewed unknown Array rs3888798 530 10758 0.0492657 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.836 - - -4 - 1 N - - CTSC Ile153Thr I153T not reviewed Insufficiently evaluated not reviewed unknown Array rs217086 9295 10758 0.864008 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CTSD Ala58Val A58V not reviewed Insufficiently evaluated not reviewed unknown Array rs17571 694 10758 0.0645101 7 0 6 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 3 - 10 - - CTSE Ile82Val I82V not reviewed Insufficiently evaluated not reviewed unknown Array rs57621203 597 10758 0.0554936 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CTSE Gly162Ser G162S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTSE Pro293Thr P293T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - CTSE Thr340Asn T340N not reviewed Insufficiently evaluated not reviewed unknown Array rs28548020 110 10758 0.0102249 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CTSF Arg421Trp R421W not reviewed Insufficiently evaluated not reviewed unknown Array rs28464796 85 10748 0.00790845 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 1 - 2 - - CTSG Asn125Ser N125S not reviewed Insufficiently evaluated not reviewed unknown Array rs45567233 545 10758 0.05066 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTSH Cys14Ser C14S not reviewed Insufficiently evaluated not reviewed unknown Array 5340 9334 0.572102 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CTSH Cys26Ser C26S not reviewed Insufficiently evaluated not reviewed unknown Array rs1036938 23 86 0.267442 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CTSH Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 184 9312 0.0197595 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTSH Gly11Arg G11R not reviewed Insufficiently evaluated not reviewed unknown Array rs2289702 4 98 0.0408163 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTSL1 Glu53Gln E53Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - -2 - 2 N - - CTSL1 Ser117Tyr S117Y not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 5 Y 2 N - - CTSL2 Ala239Glu A239E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 3 - 2 N - - CTSL3 Ser79Asn S79N not reviewed Insufficiently evaluated not reviewed unknown Array rs7853691 54 128 0.421875 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTSL3 Trp80Stop W80X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CTSL3 Ser123Gly S123G not reviewed Insufficiently evaluated not reviewed unknown Array rs11141967 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTSL3 Asn135Lys N135K not reviewed Insufficiently evaluated not reviewed unknown Array rs10735592 97 128 0.757812 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CTSL3 Val171Met V171M not reviewed Insufficiently evaluated not reviewed unknown Array rs9410963 28 124 0.225806 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTSO Gly311Asp G311D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 4 Y 2 N - - CTSS Arg113Trp R113W not reviewed Insufficiently evaluated not reviewed unknown Array rs2230061 3553 10758 0.330266 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.241 - - 7 Y 0 N - - CTSS Val7Ala V7A not reviewed Insufficiently evaluated not reviewed unknown Array rs41271951 622 10758 0.0578174 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - CTSW Ser139Gly S139G not reviewed Insufficiently evaluated not reviewed unknown Array rs604630 10009 10758 0.930377 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CTSZ Thr226Ser T226S not reviewed Insufficiently evaluated not reviewed unknown Array rs62639970 195 10758 0.018126 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CTSZ His54Leu H54L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.528 - - 6 Y 1 N - - CTTN Val303Gly V303G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CTTN Val340Gly V340G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CTTN Glu355Lys E355K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTTN Glu392Lys E392K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTTN Ser447Asn S447N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTTN Ser484Asn S484N not reviewed Insufficiently evaluated not reviewed unknown Array rs56162978 664 10758 0.0617215 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTTNBP2 Gly1345Arg G1345R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CTTNBP2NL Val296Met V296M not reviewed Insufficiently evaluated not reviewed unknown Array rs1175640 317 10758 0.0294664 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTXN1 Pro18Thr P18T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10444 0.000574492 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - 4 Y 1 N - - CTXN2 Val34Ile V34I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTXN3 Glu17Val E17V not reviewed Insufficiently evaluated not reviewed unknown Array rs248709 7574 10758 0.704034 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CTXN3 Met23Ile M23I not reviewed Insufficiently evaluated not reviewed unknown Array rs2280170 566 10758 0.052612 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 1 N - - CUBN Asn3552Lys N3552K not reviewed Insufficiently evaluated not reviewed unknown Array rs1801232 606 10758 0.0563302 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - CUBN Thr3432Ser T3432S not reviewed Insufficiently evaluated not reviewed unknown Array rs7898873 900 10758 0.0836587 11 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - CUBN Thr3422Ile T3422I not reviewed Insufficiently evaluated not reviewed unknown Array rs1801230 229 10758 0.0212865 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - CUBN Ser3329Leu S3329L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CUBN Ser3164Trp S3164W not reviewed Insufficiently evaluated not reviewed unknown Array rs57163243 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CUBN Glu3002Gly E3002G not reviewed Insufficiently evaluated not reviewed unknown Array rs1801240 1503 10758 0.13971 12 0 13 0 0 1 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - CUBN Ile2984Val I2984V not reviewed Insufficiently evaluated not reviewed unknown Array rs1801239 837 10758 0.0778026 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 2 - - CUBN Ser2717Trp S2717W not reviewed Insufficiently evaluated not reviewed unknown Array rs2796835 10757 10758 0.999907 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y - 7 Y 2 - 2 - - CUBN Met2449Thr M2449T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CUBN Cys2162Tyr C2162Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1276712 10753 10758 0.999535 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - CUBN Leu2153Phe L2153F not reviewed Insufficiently evaluated not reviewed unknown Array rs62619939 1314 10758 0.122142 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - CUBN Val2017Leu V2017L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CUBN Pro1971Thr P1971T not reviewed Insufficiently evaluated not reviewed unknown Array rs2356590 182 10758 0.0169176 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CUBN Gly1840Ser G1840S not reviewed Insufficiently evaluated not reviewed unknown Array rs2271462 616 10758 0.0572597 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - CUBN Val1769Ile V1769I not reviewed Insufficiently evaluated not reviewed unknown Array rs74116778 658 10758 0.0611638 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - CUBN Pro1559Ser P1559S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801231 7995 10758 0.743168 46 0 64 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - CUBN Val753Met V753M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CUBN His730Tyr H730Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7905349 926 10758 0.0860755 10 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - CUBN Pro389Thr P389T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801224 6329 10758 0.588306 47 0 63 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 - 2 - - CUBN Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array rs57335729 54 10758 0.00501952 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CUBN Glu304Lys E304K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - CUBN Phe253Ser F253S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801222 7563 10758 0.703012 52 0 83 0 0 2 Y - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - CUBN Gly66Arg G66R not reviewed Insufficiently evaluated not reviewed unknown Array rs12259370 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CUBN Ile37Leu I37L not reviewed Insufficiently evaluated not reviewed unknown Array 442 10756 0.0410933 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CUEDC1 Arg316Gln R316Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34800498 470 10758 0.0436884 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 3 - 3 - - CUEDC1 Arg169His R169H not reviewed Insufficiently evaluated not reviewed unknown Array rs17762338 1412 10758 0.131251 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - CUEDC1 Ser123Leu S123L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 6 Y 2 N - - CUGBP2 Gly240Ser G240S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CUGBP2 Gly264Ser G264S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CUGBP2 Gly271Ser G271S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CUL1 Leu237Phe L237F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - CUL3 Val567Ile V567I not reviewed Insufficiently evaluated not reviewed unknown Array rs3738952 741 10758 0.068879 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CUL4A Lys544Arg K544R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302757 1822 10758 0.169362 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CUL4A Lys644Arg K644R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302757 30 128 0.234375 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - CUL7 Arg852Gln R852Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34574340 245 10758 0.0227737 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.997 - Y 0 - 3 N - - CUL7 Gln813Arg Q813R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748654 10511 10758 0.97704 57 0 59 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - CUL7 Arg401Gln R401Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73733791 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y 0 - 4 - 3 - - CUL9 Gly213Asp G213D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - CUL9 Arg721His R721H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CUL9 His2058Pro H2058P not reviewed Insufficiently evaluated not reviewed unknown Array rs2273709 3927 10758 0.365031 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CUTA Ser4Pro S4P not reviewed Insufficiently evaluated not reviewed unknown Array rs1705003 2062 10758 0.191671 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CUX1 Glu114Ala E114A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - CUX1 Glu125Ala E125A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CUX1 Ala462Thr A462T not reviewed Insufficiently evaluated not reviewed unknown Array rs803064 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CUX1 Ala464Thr A464T not reviewed Insufficiently evaluated not reviewed unknown Array rs803064 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CUX1 Leu523Val L523V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 1 N - - CUX1 Leu525Val L525V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CUX1 Ile543Val I543V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CUX1 Ile545Val I545V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CUX2 Val1472Leu V1472L not reviewed Insufficiently evaluated not reviewed unknown Array rs6490073 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CUZD1 His554Arg H554R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730786 127 10758 0.0118052 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - CUZD1 Gly156Ser G156S not reviewed Insufficiently evaluated not reviewed unknown Array rs35120257 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 3 - 2 - - CWC22 Arg794Gln R794Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1046356 594 9646 0.0615799 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.573 - - 0 - 0 N - - CWC22 Ser773Arg S773R not reviewed Insufficiently evaluated not reviewed unknown Array rs6433818 8637 9624 0.897444 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CWC22 Arg742Lys R742K not reviewed Insufficiently evaluated not reviewed unknown Array rs71425650 1127 9600 0.117396 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.286 - - -3 - 0 N - - CWC22 Ala656Val A656V not reviewed Insufficiently evaluated not reviewed unknown Array rs17778270 235 10032 0.023425 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 1 - 1 - - CWF19L1 Pro259Leu P259L not reviewed Insufficiently evaluated not reviewed unknown Array rs7073610 664 10758 0.0617215 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.018 - - 7 Y 0 N - - CWF19L1 Cys160Tyr C160Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2270962 2377 10758 0.220952 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CWF19L1 Phe146Tyr F146Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - -4 - 0 N - - CWF19L2 Tyr894Cys Y894C not reviewed Insufficiently evaluated not reviewed unknown Array rs3758911 3129 10758 0.290853 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CWF19L2 His443Tyr H443Y not reviewed Insufficiently evaluated not reviewed unknown Array rs659040 2181 10758 0.202733 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CWF19L2 Glu92Asp E92D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CX3CL1 Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 2 - - CX3CL1 Glu134Asp E134D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - CX3CR1 Thr280Met T280M not reviewed Insufficiently evaluated not reviewed unknown Array rs3732378 1266 9944 0.127313 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - CX3CR1 Val249Ile V249I not reviewed Insufficiently evaluated not reviewed unknown Array rs3732379 2261 9816 0.230338 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CXADR Thr290Ile T290I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 3 - 1 - - CXCL1 Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - CXCL16 Pro211Leu P211L not reviewed Insufficiently evaluated not reviewed unknown Array rs61463072 134 10758 0.0124558 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - CXCL16 Ala200Val A200V not reviewed Insufficiently evaluated not reviewed unknown Array rs2277680 4279 10758 0.39775 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CXCL16 Thr193Ala T193A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CXCL16 Ile142Thr I142T not reviewed Insufficiently evaluated not reviewed unknown Array rs1050998 4277 10758 0.397565 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CXCL3 Ser11Arg S11R not reviewed Insufficiently evaluated not reviewed unknown Array 112 8810 0.0127128 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - CXCR5 Gly299Ser G299S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CXCR5 Gly344Ser G344S not reviewed Insufficiently evaluated not reviewed unknown Array rs665648 147 10758 0.0136642 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CXCR6 Glu3Lys E3K not reviewed Insufficiently evaluated not reviewed unknown Array rs2234355 1553 10758 0.144358 15 0 21 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - CXORF1 Ser36Ala S36A not reviewed Insufficiently evaluated not reviewed unknown Array rs3752359 179 8761 0.0204315 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CXORF15 Ile246Val I246V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CXORF22 Val236Met V236M not reviewed Insufficiently evaluated not reviewed unknown Array rs2336029 887 8759 0.101267 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CXORF22 Phe964Leu F964L not reviewed Insufficiently evaluated not reviewed unknown Array rs6629027 1416 8759 0.161662 15 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CXORF30 Phe371Tyr F371Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41309695 195 2482 0.0785657 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CXORF30 His606Arg H606R not reviewed Insufficiently evaluated not reviewed unknown Array rs6527569 651 2482 0.262288 28 0 53 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CXORF36 Arg128Lys R128K not reviewed Insufficiently evaluated not reviewed unknown Array rs1132201 2471 8761 0.282045 21 0 34 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CXORF41 Met103Ile M103I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CXORF57 Ile593Met I593M not reviewed Insufficiently evaluated not reviewed unknown Array rs5962707 1217 8761 0.138911 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CXORF58 Arg24Cys R24C not reviewed Insufficiently evaluated not reviewed unknown Array rs2707164 4740 8761 0.541034 36 0 60 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CXORF58 Ser39Leu S39L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CXORF58 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array rs16982852 188 8761 0.0214587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CXORF59 His105Pro H105P not reviewed Insufficiently evaluated not reviewed unknown Array 87 8759 0.00993264 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CXORF64 Leu115Val L115V not reviewed Insufficiently evaluated not reviewed unknown Array rs12835991 202 2482 0.081386 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - CXORF66 Pro281Ser P281S not reviewed Insufficiently evaluated not reviewed unknown Array 11 8761 0.00125556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CXORF66 Pro233Leu P233L not reviewed Insufficiently evaluated not reviewed unknown Array rs5955139 2501 8761 0.28547 33 0 59 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CYB561 Ala193Ser A193S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYB561 Thr31Ser T31S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - -2 - 1 N - - CYB561D1 Arg101Lys R101K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CYB561D1 Arg158Lys R158K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -3 - 0 N - - CYB561D1 Arg180Lys R180K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CYB5A Ser5Ala S5A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 7 - - CYB5B Thr22Ala T22A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYB5D1 Phe20Leu F20L not reviewed Insufficiently evaluated not reviewed unknown Array rs12453250 1856 10758 0.172523 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - CYB5R1 Asn44Ser N44S not reviewed Insufficiently evaluated not reviewed unknown Array rs2232842 745 10758 0.0692508 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CYB5R2 Asn209Asp N209D not reviewed Insufficiently evaluated not reviewed unknown Array rs12801394 8626 10758 0.801822 53 0 82 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CYB5R2 Leu163Trp L163W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733057 801 10758 0.0744562 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - CYB5R2 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729556 335 10758 0.0311396 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CYB5R2 Glu15Ala E15A not reviewed Insufficiently evaluated not reviewed unknown Array rs11041525 406 10758 0.0377394 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CYB5R3 Thr117Ser T117S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800457 1003 10758 0.0932329 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CYB5R3 Thr94Ser T94S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYB5R4 Asn249Ser N249S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CYB5R4 Pro267Ala P267A not reviewed Insufficiently evaluated not reviewed unknown Array rs61382555 217 10758 0.020171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - CYB5RL Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array rs61738851 775 10084 0.0768544 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYB5RL Arg47Lys R47K not reviewed Insufficiently evaluated not reviewed unknown Array rs946448 3015 10178 0.296227 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CYB5RL Asp10Asn D10N not reviewed Insufficiently evaluated not reviewed unknown Array rs11544199 336 10420 0.0322457 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYBA Val174Ala V174A not reviewed Insufficiently evaluated not reviewed unknown Array rs1049254 4049 5986 0.676412 4 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 3 - - CYBA Tyr72His Y72H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4673 6675 10758 0.620468 48 0 69 1 1 5 Y - - - - - - - - - - Y - - Y - Y - -1 - 3 N 6 - - CYBA Glu53Gly E53G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 4 - 1 - - CYBRD1 Ser266Asn S266N not reviewed Insufficiently evaluated not reviewed unknown Array rs10455 7909 10758 0.735174 46 0 78 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CYC1 Met76Val M76V not reviewed Insufficiently evaluated not reviewed unknown Array rs7820984 10249 10754 0.953041 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CYFIP1 Ser509Gly S509G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - CYFIP1 Gly389Ser G389S not reviewed Insufficiently evaluated not reviewed unknown Array rs7170637 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYFIP1 Gly820Ser G820S not reviewed Insufficiently evaluated not reviewed unknown Array rs7170637 3363 10758 0.312605 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYFIP1 Ala1003Val A1003V not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - CYFIP1 Ala572Val A572V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYGB Arg74Gln R74Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.084 - - 0 - 0 N - - CYLC1 Asp399His D399H not reviewed Insufficiently evaluated not reviewed unknown Array rs12008888 504 8729 0.0577386 8 0 12 0 0 - - - - - - - - - - - - - - - - 0.929 - - 3 - 1 N - - CYLC2 Glu65Asp E65D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - CYLC2 Asp146Tyr D146Y not reviewed Insufficiently evaluated not reviewed unknown Array rs13293961 411 10756 0.0382112 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYLC2 Lys190Glu K190E not reviewed Insufficiently evaluated not reviewed unknown Array rs2298050 29 10758 0.00269567 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYLC2 Gly208Asp G208D not reviewed Insufficiently evaluated not reviewed unknown Array rs2298051 29 10758 0.00269567 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYLC2 Ala319Glu A319E not reviewed Insufficiently evaluated not reviewed unknown Array rs3763636 29 10758 0.00269567 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP11B1 Ala386Val A386V benign Insufficiently evaluated benign recessive Array rs4541 238 10758 0.0221231 6 0 7 2 2 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 5 - - The variant has been reported causative for congenital adrenal hyperplasia, but a later report reclassifies it as a benign polymorphism after it was seen in one control. CYP11B1 Thr248Ile T248I not reviewed Insufficiently evaluated not reviewed unknown Array rs34620645 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 4 - - CYP11B1 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4534 224 10758 0.0208217 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 9 - - CYP11B2 Gly435Ser G435S not reviewed Insufficiently evaluated not reviewed unknown Array rs4545 242 10758 0.0224949 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 2 - 2 - 4 - - CYP11B2 Ile339Thr I339T not reviewed Insufficiently evaluated not reviewed unknown Array rs4544 1458 10758 0.135527 5 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 10 - - CYP11B2 Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array rs6438 130 10758 0.012084 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 2 - - CYP19A1 Arg264Cys R264C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs700519 850 10756 0.0790257 15 0 16 1 1 1 Y - - - - - - - - - - Y - - Y 0.001 Y - 8 Y 3 N 9 - - CYP19A1 Thr201Met T201M not reviewed Insufficiently evaluated not reviewed unknown Array rs28757184 468 10758 0.0435025 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 2 - 2 - 10 - - CYP19A1 Arg159Leu R159L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.89 Y - 6 Y 3 N - - CYP1A1 Arg464Ser R464S not reviewed Insufficiently evaluated not reviewed unknown Array rs41279188 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 Y - 3 - 4 - 10 - - CYP1A1 Ile462Val I462V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1048943 290 10758 0.0269567 8 0 9 0 0 - - - - - - - - - - - - - - - Y 0.488 Y - -4 - 3 N - - CYP1A1 Thr461Asn T461N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 383 10758 0.0356014 1 0 1 0 0 - - - - - - - - - - - - - - - Y 0.001 Y - 1 - 3 N 10 - - CYP1A1 Ile78Thr I78T not reviewed Insufficiently evaluated not reviewed unknown Array rs17861094 306 10758 0.0284439 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 Y - 3 - 3 N - - CYP1A1 Ala62Pro A62P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.512 Y - 2 - 2 N - - CYP1A1 Gly45Asp G45D not reviewed Insufficiently evaluated not reviewed unknown Array rs4646422 3 10758 0.000278862 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.42 Y - 4 Y 2 N - - CYP1A2 Thr324Ile T324I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 1 - - CYP1B1 Asn453Ser N453S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800440 1432 10758 0.13311 10 0 11 0 0 - - - - - - - - - - - - Y - - - 0.837 Y Y 0 - 3 - 10 - - CYP1B1 Val432Leu V432L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1056836 4786 10758 0.444878 33 0 47 0 0 1 Y - - - - - - - - - - Y - - Y - Y Y 0 - 4 N 10 - - CYP1B1 Val320Leu V320L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 1 Y - - 0 Y 0 Y 4 Y 4 Y Y - - - 0.993 Y Y 0 - Primary Congenital Glaucoma 3 127 0 60 INF 4 N - - Variants in this gene are implicated in Primary congenital glaucoma in Japanese patients. Three unrelated individuals appear to be compound heterozygous with this variant, but there is insufficient data on the frequency of the variant in controls to make this significant. CYP1B1 Ala119Ser A119S not reviewed Insufficiently evaluated not reviewed unknown Array rs1056827 3383 9988 0.338706 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 10 - - CYP1B1 Arg48Gly R48G not reviewed Insufficiently evaluated not reviewed unknown Array rs10012 3724 10658 0.349409 21 0 25 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 8 - - CYP20A1 Ser97Leu S97L not reviewed Insufficiently evaluated not reviewed unknown Array rs2043449 9523 10758 0.885202 42 0 73 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CYP20A1 Leu346Phe L346F not reviewed Insufficiently evaluated not reviewed unknown Array rs1048013 4791 10758 0.445343 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CYP21A2 Arg103Lys R103K not reviewed Insufficiently evaluated not reviewed unknown Array rs6474 2459 10752 0.228702 16 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 2 - - CYP21A2 Arg73Lys R73K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - CYP21A2 Ser239Thr S239T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - CYP21A2 Ser269Thr S269T not reviewed Insufficiently evaluated not reviewed unknown Array 1148 7524 0.152578 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - CYP21A2 Ser244Tyr S244Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CYP21A2 Ser274Tyr S274Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CYP24A1 Leu409Ser L409S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 5 - - CYP24A1 Arg157Trp R157W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CYP26A1 Ser163Asn S163N not reviewed Insufficiently evaluated not reviewed unknown Array rs73319394 1 118 0.00847458 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP26A1 Ser94Asn S94N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP26A1 Arg104Ser R104S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - CYP26A1 Arg173Ser R173S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735552 146 10750 0.0135814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 7 - - CYP26A1 Gly167Ser G167S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP26A1 Gly236Ser G236S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP26B1 Val483Met V483M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - CYP26B1 Ala420Gly A420G not reviewed Insufficiently evaluated not reviewed unknown Array rs7568553 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP26B1 Glu380Lys E380K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.705 - - 0 - 2 - 2 - - CYP26B1 Leu264Ser L264S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241057 2160 10758 0.200781 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CYP26C1 Arg245Gln R245Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11187265 13 128 0.101562 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CYP27A1 Arg53Leu R53L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.951 Y Y 6 Y 4 N - - CYP27A1 Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array rs59443548 88 10758 0.00817996 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 2 - 3 - 1 - - CYP27B1 His412Gln H412Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - -1 - 3 N - - CYP27C1 Thr359Met T359M not reviewed Insufficiently evaluated not reviewed unknown Array rs35075135 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - CYP2A13 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8192784 644 10758 0.0598624 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CYP2A13 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array 956 10716 0.0892124 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYP2A13 Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array rs8192789 682 10758 0.0633947 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - CYP2A6 Phe392Tyr F392Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1809810 10644 10758 0.989403 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CYP2A6 Val365Met V365M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28399454 407 10758 0.0378323 5 0 5 0 0 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - CYP2A6 Val80Met V80M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - CYP2A6 Ser29Asn S29N not reviewed Insufficiently evaluated not reviewed unknown Array 336 10756 0.0312384 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 8 - - CYP2A6 Gly5Arg G5R not reviewed Insufficiently evaluated not reviewed unknown Array rs28399434 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 3 - 10 - - CYP2A7 Val428Gly V428G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYP2A7 Val479Gly V479G not reviewed Insufficiently evaluated not reviewed unknown Array rs12460590 5687 10744 0.529319 41 0 70 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP2A7 Ser416Stop S416X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP2A7 Ser467Stop S467X not reviewed Insufficiently evaluated not reviewed unknown Array rs71358943 618 10732 0.0575848 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CYP2A7 Asn387Tyr N387Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - CYP2A7 Asn438Tyr N438Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12462918 1006 10550 0.0953555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 3 - - CYP2A7 Lys369Met K369M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP2A7 Lys420Met K420M not reviewed Insufficiently evaluated not reviewed unknown Array 824 10758 0.0765942 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - CYP2A7 Arg321His R321H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2A7 Arg372His R372H not reviewed Insufficiently evaluated not reviewed unknown Array rs73553091 127 10758 0.0118052 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.396 - - 1 - 1 N - - CYP2A7 Met317Thr M317T not reviewed Insufficiently evaluated not reviewed unknown Array rs2261144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2A7 Met368Thr M368T not reviewed Insufficiently evaluated not reviewed unknown Array rs2261144 3099 10758 0.288065 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 1 N - - CYP2A7 Thr296Ala T296A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2A7 Thr347Ala T347A not reviewed Insufficiently evaluated not reviewed unknown Array rs2302987 2179 10756 0.202585 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP2A7 Arg260Cys R260C not reviewed Insufficiently evaluated not reviewed unknown Array rs3869579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYP2A7 Arg311Cys R311C not reviewed Insufficiently evaluated not reviewed unknown Array rs3869579 5272 10758 0.490054 40 0 56 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - CYP2A7 His223Arg H223R not reviewed Insufficiently evaluated not reviewed unknown Array rs4079366 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2A7 His274Arg H274R not reviewed Insufficiently evaluated not reviewed unknown Array rs4079366 8577 10758 0.797267 50 0 86 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - CYP2A7 Lys188Gln K188Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2A7 Lys239Gln K239Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57677262 349 10756 0.032447 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - CYP2A7 Met153Val M153V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2A7 Met204Val M204V not reviewed Insufficiently evaluated not reviewed unknown Array rs73032311 1444 10758 0.134226 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - CYP2A7 Asp118Glu D118E not reviewed Insufficiently evaluated not reviewed unknown Array rs4142867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2A7 Asp169Glu D169E not reviewed Insufficiently evaluated not reviewed unknown Array rs4142867 5276 10758 0.490426 22 0 30 0 0 - - - - - - - - - - - - - - - - 0.46 - - -2 - 0 N - - CYP2A7 Ser102Ala S102A not reviewed Insufficiently evaluated not reviewed unknown Array rs56081734 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP2A7 Ser153Ala S153A not reviewed Insufficiently evaluated not reviewed unknown Array rs56081734 5138 10756 0.477687 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CYP2A7 Ala133Pro A133P not reviewed Insufficiently evaluated not reviewed unknown Array 149 10616 0.0140354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - CYP2A7 Ala82Pro A82P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2A7 Leu128Arg L128R not reviewed Insufficiently evaluated not reviewed unknown Array rs3815710 1742 10216 0.170517 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CYP2A7 Leu77Arg L77R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2A7 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array rs3815711 2827 10402 0.271775 23 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYP2A7 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2A7 Cys64Arg C64R not reviewed Insufficiently evaluated not reviewed unknown Array rs10425169 2999 10590 0.283192 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP2A7 Phe61Ile F61I not reviewed Insufficiently evaluated not reviewed unknown Array rs10425176 3115 10674 0.291831 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYP2A7 Gly36Arg G36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 2 - - CYP2B6 Arg22Cys R22C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8192709 512 10758 0.0475925 5 0 5 1 1 - - - - - - - - - - - - - - - Y 0.639 - - 8 Y 3 N 10 - - CYP2B6 Thr26Ser T26S not reviewed Insufficiently evaluated not reviewed unknown Array rs33973337 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2B6 Gln172His Q172H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3745274 3138 10758 0.29169 32 0 38 1 1 - - - - - - - - - - - - - - - Y 0.009 - - -1 - 1 N - - CYP2B6 Asp257Asn D257N not reviewed Insufficiently evaluated not reviewed unknown Array 24 10744 0.0022338 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - -1 - 3 - 10 - - CYP2B6 Ile328Thr I328T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28399499 229 10758 0.0212865 1 0 1 1 1 - - - - - - - - - - - - - - - Y 1.0 - - 3 - 3 N - - Elevated plasma levels of efavirenz. Also associated with response to bupropion and nevirapine. CYP2B6 Arg487Cys R487C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3211371 944 10758 0.0877487 5 0 5 0 0 - - - - - - - - - - - - - - - Y 0.005 - - 8 Y 1 N - - CYP2C18 Tyr68Stop Y68X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP2C18 Val271Leu V271L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CYP2C18 Val330Leu V330L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CYP2C18 Arg276Gln R276Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2C18 Arg335Gln R335Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2C18 Thr326Met T326M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2C18 Thr385Met T385M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2C19 Trp212Stop W212X pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs4986893 1 128 0.0078125 1 0 1 7 7 3 Y - - 4 Y - - 4 Y 4 Y - Y - Y - - - 10 Y 4 N 10 - - CYP2C19*3 allele. Poor metabolism of Mephenytoin, poor metabolism of Proguanil (FDA approved). CYP2C19 Arg410Cys R410C not reviewed Insufficiently evaluated not reviewed unknown Array rs17879685 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 9 - - CYP2C8 Lys399Arg K399R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10509681 932 10758 0.0866332 5 0 6 4 4 - - - - - - - - - - - - - - - Y 0.001 - - -3 - 1 N - - Impaired metabolism of paclitaxel in vitro, lower plasma concentration of repaglinide and rosiglitazone. CYP2C8 Leu391Met L391M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - -3 - 1 N - - CYP2C8 Ile269Phe I269F pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs11572103 604 10758 0.0561443 8 0 8 1 1 - - - - - - - - - - - - - - - Y 0.516 - - 2 - 1 N - - 2x lower clearance for paclitaxel. CYP2C8 Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP2C8 Arg139Lys R139K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11572080 931 10758 0.0865403 5 0 6 5 5 - - - - - - - - - - - - - - - Y 0.015 - - -3 - 1 N - - CYP2C9 Arg144Cys R144C pharmacogenetic Moderate clinical importance, pharmacogenetic unknown Array rs1799853 1044 10752 0.0970982 5 0 6 7 6 2 Y 3 Y 4 Y - - 3 Y 3 Y - Y Y Y 0.954 - - 8 Y 3 N 1 2 This variant, also called CYP2C9*2, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is associated with Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. CYP2C9 Arg150His R150H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7900194 218 10754 0.0202715 3 0 3 1 1 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - CYP2C9 His251Arg H251R not reviewed Insufficiently evaluated not reviewed unknown Array rs2256871 296 10758 0.0275144 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - CYP2D6 Thr435Ser T435S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1135840 1 0 1 1 1 - - - - - - - - - - - - - - - Y - - - -2 - 2 N - - CYP2D6 Thr486Ser T486S not reviewed Insufficiently evaluated not reviewed unknown Array rs1135840 4392 10732 0.409243 50 0 65 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CYP2D6 Pro379Leu P379L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - CYP2D6 Pro430Leu P430L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10470 9.551e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP2D6 Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2D6 Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array 1343 10756 0.124861 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP2D6 Cys245Arg C245R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 1 0 1 1 1 1 Y - - - - - - - - - - - - - Y - - - 8 Y 2 N - - CYP2D6 Cys296Arg C296R not reviewed Insufficiently evaluated not reviewed unknown Array rs16947 6439 10742 0.599423 37 0 58 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP2D6 His94Arg H94R not reviewed Insufficiently evaluated not reviewed unknown Array rs28371704 879 10618 0.082784 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 10 - - CYP2D6 Leu91Met L91M not reviewed Insufficiently evaluated not reviewed unknown Array rs28371703 555 10518 0.0527667 13 0 16 1 0 - - - - - - - - - - - - - - - - - - - -3 - 1 - 9 - - CYP2D6 Pro34Ser P34S pharmacogenetic Insufficiently evaluated pharmacogenetic other Array rs1065852 2012 10742 0.187302 18 0 21 5 5 2 Y 2 Y 3 Y 0 - 2 Y 2 Y - Y - Y - - - 3 - 2 N - - This variant is associated with poor metabolism of debrisoquine. The variant is also known as CYP2D6*10 or CYP2D6 (J) or CYP2D6 (Ch1, Ch2). Zateyshchikov et al. report that heterozygotes carrying this variant are more sensitive to betaxolol therapy. CYP2E1 Val179Ile V179I not reviewed Insufficiently evaluated not reviewed unknown Array rs6413419 943 10758 0.0876557 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.23 - - -4 - 0 N - - CYP2F1 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2F1 Ser5Thr S5T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2F1 Asp218Asn D218N not reviewed Insufficiently evaluated not reviewed unknown Array rs305974 3947 10754 0.367026 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CYP2F1 Gln266His Q266H not reviewed Insufficiently evaluated not reviewed unknown Array 233 10202 0.0228387 13 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP2F1 Met444Leu M444L not reviewed Insufficiently evaluated not reviewed unknown Array 560 10726 0.0522096 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CYP2F1 Asn479His N479H not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2F1 Arg489His R489H not reviewed Insufficiently evaluated not reviewed unknown Array 57 10718 0.00531816 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2W1 Arg186His R186H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746347 301 10376 0.0290093 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CYP2W1 Arg251Trp R251W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10738 0.000372508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.538 - - 7 Y 2 - 1 - - CYP2W1 Val432Ile V432I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10690 0.000654817 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - CYP2W1 Pro488Leu P488L not reviewed Insufficiently evaluated not reviewed unknown Array rs3808348 1549 10494 0.147608 9 0 13 0 0 - - - - - - - - - - - - - - - - 0.058 - - 7 Y 0 N - - CYP39A1 Gly410Arg G410R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CYP39A1 Arg389Cys R389C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CYP39A1 Asn324Lys N324K not reviewed Insufficiently evaluated not reviewed unknown Array rs7761731 4187 10758 0.389199 39 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP39A1 Arg103His R103H not reviewed Insufficiently evaluated not reviewed unknown Array rs2277119 2489 10750 0.231535 26 0 28 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CYP39A1 Arg27His R27H not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.717 - - 1 - 1 N - - CYP39A1 Arg23Pro R23P not reviewed Insufficiently evaluated not reviewed unknown Array rs12192544 1813 10758 0.168526 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 1 N - - CYP3A43 Arg130Gln R130Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 9 - - CYP3A43 Met145Ile M145I not reviewed Insufficiently evaluated not reviewed unknown Array rs45450092 132 10758 0.0122699 7 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - CYP3A43 Pro340Ala P340A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs680055 1477 10758 0.137293 14 0 17 1 1 - - - - - - - - - - - - - - - Y 0.925 - - 2 - 2 N - - CYP3A5 Arg495Thr R495T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - CYP3A7 Arg409Thr R409T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2257401 8195 10758 0.761759 46 0 74 1 1 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - CYP46A1 Thr187Pro T187P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 4 Y 0 N - - CYP4A11 Phe434Ser F434S not reviewed Insufficiently evaluated not reviewed unknown Array rs1126742 1766 10758 0.164157 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CYP4A11 Pro385Arg P385R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CYP4A22 Arg11Cys R11C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - CYP4A22 Leu72Ile L72I not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - CYP4A22 Tyr104Phe Y104F not reviewed Insufficiently evaluated not reviewed unknown Array rs61507155 239 10754 0.0222243 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 3 - 1 - - CYP4A22 Arg126Trp R126W not reviewed Insufficiently evaluated not reviewed unknown Array rs12564525 2379 10758 0.221138 28 0 30 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CYP4A22 Gly130Ser G130S not reviewed Insufficiently evaluated not reviewed unknown Array rs2056900 2240 10758 0.208217 25 0 26 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - CYP4A22 Asn152Tyr N152Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55910803 5858 10758 0.544525 46 0 76 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CYP4A22 Val185Phe V185F not reviewed Insufficiently evaluated not reviewed unknown Array rs4926581 2242 10754 0.208481 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 0 N - - CYP4A22 Cys231Arg C231R not reviewed Insufficiently evaluated not reviewed unknown Array rs10789501 4214 10758 0.391708 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP4A22 Lys276Thr K276T not reviewed Insufficiently evaluated not reviewed unknown Array 723 10758 0.0672058 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - CYP4A22 Leu428Pro L428P not reviewed Insufficiently evaluated not reviewed unknown Array rs2405599 2494 10758 0.231827 28 0 30 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CYP4A22 Leu506Phe L506F not reviewed Insufficiently evaluated not reviewed unknown Array 90 10754 0.00836898 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 0 - 1 N - - CYP4A22 Leu509Phe L509F not reviewed Insufficiently evaluated not reviewed unknown Array rs4926600 823 10752 0.0765439 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - CYP4B1 His75Gln H75Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP4B1 Arg173Trp R173W pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4646487 1598 10758 0.148541 20 0 20 1 1 3 Y - - - - - - - - - - - - - Y - - - 7 Y 1 N - - CYP4B1 Ser322Gly S322G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - CYP4B1 Ser323Gly S323G not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - CYP4B1 Met331Ile M331I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP4B1 Met332Ile M332I not reviewed Insufficiently evaluated not reviewed unknown Array rs2297810 2593 10758 0.24103 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CYP4B1 Arg340Cys R340C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYP4B1 Arg341Cys R341C not reviewed Insufficiently evaluated not reviewed unknown Array rs4646491 1228 10758 0.114148 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP4B1 Arg375Cys R375C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYP4B1 Arg376Cys R376C not reviewed Insufficiently evaluated not reviewed unknown Array rs2297809 1506 10758 0.139989 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP4B1 Arg482Gln R482Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - CYP4B1 Arg483Gln R483Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45622937 257 10758 0.0238892 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - CYP4F11 Asp446Asn D446N not reviewed Insufficiently evaluated not reviewed unknown Array rs1060463 5936 10758 0.551775 39 0 54 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - CYP4F11 Cys276Arg C276R not reviewed Insufficiently evaluated not reviewed unknown Array rs8104361 8444 10758 0.784904 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP4F11 Arg146Cys R146C not reviewed Insufficiently evaluated not reviewed unknown Array rs57519667 206 10758 0.0191485 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 8 Y 0 N - - CYP4F12 Pro13Leu P13L not reviewed Insufficiently evaluated not reviewed unknown Array rs16995376 2937 10746 0.273311 21 0 28 0 0 - - - - - - - - - - - - - - - - 0.01 - - 7 Y 0 N - - CYP4F12 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array rs16995378 9817 10750 0.913209 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYP4F12 Asn76Asp N76D not reviewed Insufficiently evaluated not reviewed unknown Array rs609636 9714 10510 0.924263 54 0 101 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CYP4F12 Ile90Val I90V not reviewed Insufficiently evaluated not reviewed unknown Array rs609290 9843 10682 0.921457 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CYP4F12 Cys188Arg C188R not reviewed Insufficiently evaluated not reviewed unknown Array rs2285888 5944 10758 0.552519 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP4F12 Ser522Gly S522G not reviewed Insufficiently evaluated not reviewed unknown Array rs593818 5898 10692 0.551627 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYP4F2 Thr472Ala T472A not reviewed Insufficiently evaluated not reviewed unknown Array 2347 10758 0.218163 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP4F2 Val433Met V433M pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs2108622 2426 10758 0.225507 17 0 22 4 4 - - - - - - - - - - - - - - Y Y 0.309 - - 0 - 2 N - - Requires 1mg/day greater dose of warfarin. CYP4F2 Trp12Gly W12G not reviewed Insufficiently evaluated not reviewed unknown Array rs3093105 2053 10742 0.191119 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CYP4F22 Ser178Cys S178C not reviewed Insufficiently evaluated not reviewed unknown Array rs16980531 492 10758 0.0457334 3 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 3 - 2 - - CYP4F22 Tyr218Stop Y218X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - CYP4F22 Lys505Gln K505Q not reviewed Insufficiently evaluated not reviewed unknown Array 248 10758 0.0230526 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.098 - Y -2 - 2 - 1 - - CYP4F3 Met191Val M191V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.304 - - 0 - 1 N - - CYP4F3 Ala269Asp A269D not reviewed Insufficiently evaluated not reviewed unknown Array rs1805040 1399 10758 0.130043 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CYP4F8 Gly45Cys G45C not reviewed Insufficiently evaluated not reviewed unknown Array rs73001907 1772 10754 0.164776 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CYP4F8 Gln447Pro Q447P not reviewed Insufficiently evaluated not reviewed unknown Array rs2056822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP4V2 Leu22Val L22V not reviewed Insufficiently evaluated not reviewed unknown Array rs1055138 4871 10594 0.459789 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.022 - - 0 - 1 - 2 - - CYP4V2 Gln259Lys Q259K not reviewed Insufficiently evaluated not reviewed unknown Array rs13146272 6699 10756 0.622815 46 0 69 0 0 - - - - - - - - - - - - Y - - - - - - -2 - 0 N - - CYP4V2 Glu275Lys E275K not reviewed Insufficiently evaluated not reviewed unknown Array rs34745240 414 10758 0.038483 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.002 - - 0 - 0 N - - CYP4Z1 Pro62Arg P62R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CYP7A1 Asp347Asn D347N not reviewed Insufficiently evaluated not reviewed unknown Array rs8192875 43 10758 0.00399703 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 3 - 9 - - CYP7A1 Thr193Ile T193I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP7B1 Arg324His R324H not reviewed Insufficiently evaluated not reviewed unknown Array rs59035258 320 10758 0.0297453 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 1 - 1 N - - CYP8B1 Val402Ile V402I not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP8B1 Ser88Pro S88P not reviewed Insufficiently evaluated not reviewed unknown Array rs9865715 10578 10758 0.983268 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CYSLTR2 Ser236Leu S236L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735175 379 10758 0.0352296 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - CYTH4 Asn107His N107H not reviewed Insufficiently evaluated not reviewed unknown Array rs73887107 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - CYTSA Ser98Phe S98F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYTSA Leu200Phe L200F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYTSA Asp301Gly D301G not reviewed Insufficiently evaluated not reviewed unknown Array rs204710 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYTSA Val951Met V951M not reviewed Insufficiently evaluated not reviewed unknown Array rs204718 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYTSB Ser193Arg S193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYTSB Ser274Arg S274R not reviewed Insufficiently evaluated not reviewed unknown Array rs9908032 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYTSB Met212Leu M212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CYTSB Met293Leu M293L not reviewed Insufficiently evaluated not reviewed unknown Array rs2703806 43 0 74 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CYYR1 Arg95His R95H not reviewed Insufficiently evaluated not reviewed unknown Array rs35253087 229 10758 0.0212865 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - CYYR1 Thr44Met T44M not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.877 - - 2 - 2 N - - D2HGDH Arg55Gln R55Q not reviewed Insufficiently evaluated not reviewed unknown Array 2836 10260 0.276413 13 0 13 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - D2HGDH Val338Ile V338I not reviewed Insufficiently evaluated not reviewed unknown Array rs1106639 2944 10750 0.27386 25 0 29 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - -4 - 1 N - - D2HGDH Ala361Val A361V not reviewed Insufficiently evaluated not reviewed unknown Array rs1105273 1744 10750 0.162233 21 0 25 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - DAB1 Ser287Asn S287N not reviewed Insufficiently evaluated not reviewed unknown Array rs34341631 137 10758 0.0127347 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAB1 Gly39Arg G39R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DAB2 Pro725Thr P725T not reviewed Insufficiently evaluated not reviewed unknown Array rs73078542 15 10758 0.00139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 4 Y 0 N - - DAB2 Ser634Asn S634N not reviewed Insufficiently evaluated not reviewed unknown Array rs3733801 1022 10758 0.0949991 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.656 - - 0 - 0 N - - DAB2 Thr587Ala T587A not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - DAB2 Thr586Ile T586I not reviewed Insufficiently evaluated not reviewed unknown Array rs700241 531 10758 0.0493586 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - DAB2IP Arg783Trp R783W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAB2IP Arg879Trp R879W not reviewed Insufficiently evaluated not reviewed unknown Array 59 10230 0.00576735 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DACT1 Ala427Val A427V not reviewed Insufficiently evaluated not reviewed unknown Array rs17832998 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DACT1 Ala464Val A464V not reviewed Insufficiently evaluated not reviewed unknown Array rs17832998 3232 10756 0.300483 32 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DACT1 Ser591Ala S591A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - DACT1 Ser628Ala S628A not reviewed Insufficiently evaluated not reviewed unknown Array rs17094821 230 10634 0.0216287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 2 - 3 - - DACT1 Gly660Ser G660S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DACT1 Gly697Ser G697S not reviewed Insufficiently evaluated not reviewed unknown Array rs698025 2650 10736 0.246833 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - DACT2 Gly646Cys G646C not reviewed Insufficiently evaluated not reviewed unknown Array rs73789362 80 3234 0.0247372 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.149 - - 7 Y 0 N - - DACT2 Thr541Pro T541P not reviewed Insufficiently evaluated not reviewed unknown Array rs10945501 1352 3228 0.418835 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DACT2 Leu517Pro L517P not reviewed Insufficiently evaluated not reviewed unknown Array 63 3234 0.0194805 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 0 N - - DACT2 Glu351Gly E351G not reviewed Insufficiently evaluated not reviewed unknown Array rs6925614 1240 3234 0.383426 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DACT2 Asp121Glu D121E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - DAG1 Ser14Trp S14W not reviewed Insufficiently evaluated not reviewed unknown Array rs2131107 10459 10758 0.972207 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DAGLA Gly735Val G735V not reviewed Insufficiently evaluated not reviewed unknown Array rs35056845 242 10648 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 3 - 3 - - DAGLA Pro889Leu P889L not reviewed Insufficiently evaluated not reviewed unknown Array rs3741252 1370 10692 0.128133 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DAGLB Gln535Arg Q535R not reviewed Insufficiently evaluated not reviewed unknown Array rs2303361 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAGLB Gln664Arg Q664R not reviewed Insufficiently evaluated not reviewed unknown Array rs2303361 1871 10758 0.173917 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - DAGLB Arg273His R273H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - DAGLB Arg402His R402H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.562 - - 1 - 1 N - - DAGLB Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAK Ile67Thr I67T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 3 - 2 - 2 - - DAK Glu169Gly E169G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 10 - - DAK Ala185Thr A185T not reviewed Insufficiently evaluated not reviewed unknown Array rs2260655 8836 10688 0.826722 46 0 83 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DAK Ala334Gly A334G not reviewed Insufficiently evaluated not reviewed unknown Array rs35723406 925 10758 0.0859825 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - DALRD3 Gln132Arg Q132R not reviewed Insufficiently evaluated not reviewed unknown Array rs3087866 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DALRD3 Gln299Arg Q299R not reviewed Insufficiently evaluated not reviewed unknown Array rs3087866 8632 10758 0.80238 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DALRD3 Gly205Glu G205E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - DALRD3 Gly38Glu G38E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DAOA Arg30Lys R30K not reviewed Insufficiently evaluated not reviewed unknown Array rs2391191 32 128 0.25 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DAP3 Val240Phe V240F not reviewed Insufficiently evaluated not reviewed unknown Array rs57692591 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - DAPK1 Val416Ile V416I not reviewed Insufficiently evaluated not reviewed unknown Array rs12343465 952 9954 0.0956399 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DAPK1 Ser1346Asn S1346N not reviewed Insufficiently evaluated not reviewed unknown Array rs1056719 5826 9994 0.58295 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DAPK2 Arg68Gln R68Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - DAPL1 Leu60Pro L60P not reviewed Insufficiently evaluated not reviewed unknown Array rs9869 5122 10758 0.476111 46 0 67 0 0 - - - - - - - - - - - - - - - - 0.127 - - 7 Y 0 N - - DAPL1 Ala66Thr A66T not reviewed Insufficiently evaluated not reviewed unknown Array rs10497199 2352 10758 0.218628 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DARC Gly42Asp G42D not reviewed Insufficiently evaluated not reviewed unknown Array rs12075 7504 10758 0.697527 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - Noted by Schuster et al decreased white blood-cell count in African-Americans DARC Gly44Asp G44D not reviewed Insufficiently evaluated not reviewed unknown Array rs12075 71 128 0.554688 36 0 57 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DARC Leu67Phe L67F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DARC Leu69Phe L69F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - DARC Ala100Thr A100T not reviewed Insufficiently evaluated not reviewed unknown Array 1329 10758 0.123536 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DARC Ala102Thr A102T not reviewed Insufficiently evaluated not reviewed unknown Array rs13962 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DARS Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array rs60318326 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - DARS2 Lys196Arg K196R not reviewed Insufficiently evaluated not reviewed unknown Array rs35515638 311 10758 0.0289087 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - -3 - 1 N - - DAXX Glu478Asp E478D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DAXX Glu490Asp E490D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DAZAP2 Ser102Ala S102A not reviewed Insufficiently evaluated not reviewed unknown Array rs57917280 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.094 - - -1 - 0 N - - DAZAP2 Ser70Ala S70A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DAZAP2 Ser80Ala S80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DAZL Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array rs11710967 1053 10746 0.0979899 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 1 - 10 - - DBF4 His575Arg H575R not reviewed Insufficiently evaluated not reviewed unknown Array rs2041049 439 10694 0.0410511 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - DBF4B Ser20Asn S20N not reviewed Insufficiently evaluated not reviewed unknown Array rs34159181 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 1 - 1 - - DBF4B Leu199Ser L199S not reviewed Insufficiently evaluated not reviewed unknown Array rs62636633 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - DBH Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 7 Y 4 N - - DBH Asn201Ser N201S not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DBH Ala211Thr A211T not reviewed Insufficiently evaluated not reviewed unknown Array rs5320 960 10758 0.0892359 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - DBH Asp290Asn D290N not reviewed Insufficiently evaluated not reviewed unknown Array rs5324 259 10758 0.0240751 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -1 - 2 N - - DBH Ala318Ser A318S not reviewed Insufficiently evaluated not reviewed unknown Array rs4531 996 10758 0.0925823 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - DBH Arg549Cys R549C not reviewed Insufficiently evaluated not reviewed unknown Array rs6271 5 0 5 0 0 5 Y - - - - - - - - - - Y - - - 0.613 Y Y 8 Y 3 N - - DBN1 Ser553Pro S553P not reviewed Insufficiently evaluated not reviewed unknown Array rs28538572 10725 10740 0.998603 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DBN1 Ser555Pro S555P not reviewed Insufficiently evaluated not reviewed unknown Array rs28538572 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DBN1 Ile446Val I446V not reviewed Insufficiently evaluated not reviewed unknown Array rs2544809 5694 10758 0.529281 40 0 52 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DBN1 Ile448Val I448V not reviewed Insufficiently evaluated not reviewed unknown Array rs2544809 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DBN1 Pro338Leu P338L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DBN1 Pro340Leu P340L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DBN1 Val159Met V159M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DBN1 Val161Met V161M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DBNDD1 Ser104Leu S104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 6 Y 2 N - - DBNDD1 Ser84Leu S84L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 6 Y 2 N - - DBNDD2 Met94Val M94V not reviewed Insufficiently evaluated not reviewed unknown Array rs1127497 6998 8372 0.835882 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DBR1 Ser451Leu S451L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - DBT Asn473Ser N473S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DBT Ser384Gly S384G not reviewed Insufficiently evaluated not reviewed unknown Array rs12021720 9235 10758 0.858431 52 0 93 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - DBT Ile239Val I239V not reviewed Insufficiently evaluated not reviewed unknown Array rs72973763 416 10758 0.0386689 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DBT Glu224Stop E224X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - DBX1 Asp363Val D363V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DBX1 Asp363Tyr D363Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DBX1 Ser278Cys S278C not reviewed Insufficiently evaluated not reviewed unknown Array rs61732859 345 10758 0.0320692 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DBX1 Gly260Arg G260R not reviewed Insufficiently evaluated not reviewed unknown Array 1058 10758 0.0983454 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DBX1 Pro258Leu P258L not reviewed Insufficiently evaluated not reviewed unknown Array rs60208936 455 10758 0.0422941 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DBX2 Ser179Cys S179C not reviewed Insufficiently evaluated not reviewed unknown Array rs73275596 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.754 - - 3 - 1 N - - DBX2 Met171Val M171V not reviewed Insufficiently evaluated not reviewed unknown Array rs2731038 6452 10758 0.59974 51 0 74 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - DCBLD1 Lys356Arg K356R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10752 0.000930059 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - DCBLD2 Asp723Asn D723N not reviewed Insufficiently evaluated not reviewed unknown Array rs16840208 17 9998 0.00170034 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 2 - 3 - - DCBLD2 Ile144Met I144M not reviewed Insufficiently evaluated not reviewed unknown Array rs9838238 354 9646 0.0366991 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 3 - 2 - - DCC Phe23Leu F23L not reviewed Insufficiently evaluated not reviewed unknown Array rs9951523 10643 10758 0.98931 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DCC Arg201Gly R201G not reviewed Insufficiently evaluated not reviewed unknown Array rs2229080 3846 10758 0.357501 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 1 N - - DCC Glu1408Stop E1408X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DCD Val102Ile V102I not reviewed Insufficiently evaluated not reviewed unknown Array 109 10756 0.0101339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DCD Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array rs36031159 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 6 - - DCDC1 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array rs2761591 1155 10758 0.107362 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - DCDC2 Lys456Asn K456N not reviewed Insufficiently evaluated not reviewed unknown Array rs9460973 1750 10758 0.16267 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - DCDC2 Ser221Gly S221G not reviewed Insufficiently evaluated not reviewed unknown Array rs2274305 5147 10758 0.478435 37 0 55 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DCHS1 Tyr2858Phe Y2858F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 2 N - - DCHS1 Thr1949Met T1949M not reviewed Insufficiently evaluated not reviewed unknown Array rs4758443 3264 10758 0.303402 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 1 N - - DCHS1 Ala1435Pro A1435P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - DCHS1 Arg1392Gln R1392Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - DCHS1 Arg999Gln R999Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10752 0.0031622 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - DCHS1 Val127Ile V127I not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - -4 - 0 N - - DCHS2 Pro2676Leu P2676L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746132 505 10758 0.0469418 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - DCHS2 Arg2563Ser R2563S not reviewed Insufficiently evaluated not reviewed unknown Array 95 10750 0.00883721 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 3 - 2 N - - DCHS2 Asn2522His N2522H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746101 495 10758 0.0460123 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - DCHS2 Lys2475Arg K2475R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743677 461 10758 0.0428518 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - DCHS2 Ser2303Asn S2303N not reviewed Insufficiently evaluated not reviewed unknown Array rs6824133 497 10758 0.0461982 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DCHS2 Gly2160Asp G2160D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - DCHS2 Gly2160Ser G2160S not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - DCHS2 Ser2117Ala S2117A not reviewed Insufficiently evaluated not reviewed unknown Array rs111684589 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.963 - - -1 - 2 N - - DCHS2 Glu1595Lys E1595K not reviewed Insufficiently evaluated not reviewed unknown Array rs28561984 1503 10758 0.13971 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - DCHS2 Glu1595Gln E1595Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28561984 18 128 0.140625 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DCHS2 Thr1480Arg T1480R not reviewed Insufficiently evaluated not reviewed unknown Array rs17031394 1947 10758 0.180982 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DCHS2 Arg1347Gln R1347Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 3 - 1 - - DCHS2 Ser1205Leu S1205L not reviewed Insufficiently evaluated not reviewed unknown Array rs11935573 2663 10758 0.247537 29 0 33 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 1 N - - DCHS2 Ala1171Val A1171V not reviewed Insufficiently evaluated not reviewed unknown Array rs56277131 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - DCHS2 Asn897Ser N897S not reviewed Insufficiently evaluated not reviewed unknown Array rs1352714 9581 10758 0.890593 51 0 95 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DCHS2 Pro1342His P1342H not reviewed Insufficiently evaluated not reviewed unknown Array rs12500437 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DCHS2 Pro1325Leu P1325L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DCHS2 Pro870Leu P870L not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - DCHS2 Leu1298Val L1298V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS2 Leu843Val L843V not reviewed Insufficiently evaluated not reviewed unknown Array 673 10758 0.0625581 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 0 N - - DCHS2 Val1282Ile V1282I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - DCHS2 Val827Ile V827I not reviewed Insufficiently evaluated not reviewed unknown Array rs7666283 264 10758 0.0245399 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 2 - 2 - - DCHS2 Met1239Val M1239V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS2 Met740Val M740V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DCHS2 Leu1097Val L1097V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS2 Leu598Val L598V not reviewed Insufficiently evaluated not reviewed unknown Array rs72966165 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.181 - - 0 - 0 N - - DCHS2 Val1072Phe V1072F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCHS2 Val573Phe V573F not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - 3 - 0 N - - DCHS2 Ala479Thr A479T not reviewed Insufficiently evaluated not reviewed unknown Array rs72966167 43 10758 0.00399703 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - DCHS2 Ala978Thr A978T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCHS2 Val451Leu V451L not reviewed Insufficiently evaluated not reviewed unknown Array 637 10758 0.0592117 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 1 N - - DCHS2 Val950Leu V950L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS2 Ser344Leu S344L not reviewed Insufficiently evaluated not reviewed unknown Array rs6858712 10562 10758 0.981781 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DCHS2 Ser843Leu S843L not reviewed Insufficiently evaluated not reviewed unknown Array rs6858712 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DCHS2 Ala321Val A321V not reviewed Insufficiently evaluated not reviewed unknown Array rs62331892 225 6172 0.036455 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - DCHS2 Glu237Ala E237A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DCHS2 His174Arg H174R not reviewed Insufficiently evaluated not reviewed unknown Array rs10017772 4821 10758 0.448132 43 0 55 0 0 - - - - - - - - - - - - - - - - 0.317 - - 1 - 0 N - - DCHS2 His768Arg H768R not reviewed Insufficiently evaluated not reviewed unknown Array rs10017772 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCHS2 Val153Ala V153A not reviewed Insufficiently evaluated not reviewed unknown Array rs11721758 3880 10758 0.360662 35 0 42 0 0 - - - - - - - - - - - - - - - - 0.227 - - 2 - 0 N - - DCHS2 Phe490Leu F490L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS2 Pro209Ser P209S not reviewed Insufficiently evaluated not reviewed unknown Array rs17373860 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCHS2 Val190Gly V190G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DCHS2 Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCI Thr76Met T76M not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - DCK Ala119Gly A119G not reviewed Insufficiently evaluated not reviewed unknown Array rs66472932 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 7 - - DCK Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array rs67437265 233 10758 0.0216583 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 9 - - DCLK2 Lys428Arg K428R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DCLK2 Lys429Arg K429R not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - DCLK2 Pro747Ser P747S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCLK2 Pro748Ser P748S not reviewed Insufficiently evaluated not reviewed unknown Array rs13152819 9069 9234 0.982131 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DCLK2 Pro747Arg P747R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DCLK2 Pro748Arg P748R not reviewed Insufficiently evaluated not reviewed unknown Array rs13152820 9010 9170 0.982552 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DCLK3 Glu633Asp E633D not reviewed Insufficiently evaluated not reviewed unknown Array rs35704209 87 10238 0.00849775 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - -2 - 3 - 2 - - DCLK3 Ile566Phe I566F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10122 0.000296384 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 2 - 2 - 1 - - DCLRE1A Thr1015Ser T1015S not reviewed Insufficiently evaluated not reviewed unknown Array rs36045399 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - -2 - 2 N - - DCLRE1A Asp317His D317H not reviewed Insufficiently evaluated not reviewed unknown Array rs3750898 6853 10758 0.637014 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DCLRE1A Lys58Glu K58E not reviewed Insufficiently evaluated not reviewed unknown Array rs17235066 405 10758 0.0376464 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - DCLRE1B His61Tyr H61Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11552449 1372 10758 0.127533 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 0 N - - DCLRE1C Leu209Met L209M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - DCLRE1C Leu214Met L214M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - DCLRE1C Leu329Met L329M not reviewed Insufficiently evaluated not reviewed unknown Array rs41299658 8 10758 0.000743632 2 0 1 0 0 - - - - - - - - - - - - Y - - - 0.842 Y - -3 - 2 N - - DCLRE1C His123Arg H123R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCLRE1C His128Arg H128R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCLRE1C His243Arg H243R not reviewed Insufficiently evaluated not reviewed unknown Array rs12768894 1535 10758 0.142685 12 0 12 0 0 - - - - - - - - - - - - Y - - - 0.767 Y - 1 - 1 N - - DCLRE1C Pro171Arg P171R not reviewed Insufficiently evaluated not reviewed unknown Array rs35441642 999 10758 0.0928611 11 0 13 0 0 - - - - - - - - - - - - Y - - - 0.676 Y - 5 Y 1 N - - DCLRE1C Pro51Arg P51R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - DCLRE1C Pro56Arg P56R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - DCN Val119Ala V119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DCN Val159Ala V159A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DCN Val197Ala V197A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DCN Val306Ala V306A not reviewed Insufficiently evaluated not reviewed unknown Array rs73358055 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DCP1A Phe421Ser F421S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DCP1A Phe421Leu F421L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCP1A Gln18His Q18H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCP1B Arg344His R344H not reviewed Insufficiently evaluated not reviewed unknown Array rs715146 293 10758 0.0272355 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCP2 Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array rs33555 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DCPS Gly226Asp G226D not reviewed Insufficiently evaluated not reviewed unknown Array rs35836343 60 10758 0.00557724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - DCST1 Thr133Ile T133I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - DCST1 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array rs9427170 116 10756 0.0107847 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.937 - - 3 - 3 - 2 - - DCST1 Met487Leu M487L not reviewed Insufficiently evaluated not reviewed unknown Array rs11264300 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DCST1 Met512Leu M512L not reviewed Insufficiently evaluated not reviewed unknown Array rs11264300 3989 10758 0.370794 38 0 54 0 0 - - - - - - - - - - - - - - - - 0.902 - - -3 - 1 N - - DCST2 Pro726Ser P726S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCTN1 Met1047Ile M1047I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCTN1 Met1052Ile M1052I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCTN1 Met1161Ile M1161I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCTN1 Met1186Ile M1186I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCTN1 Leu153Met L153M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - DCTN1 Leu267Met L267M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - DCTN1 Leu287Met L287M not reviewed Insufficiently evaluated not reviewed unknown Array rs13420401 510 10758 0.0474066 7 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - DCTN2 Glu398Ala E398A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCTN4 Phe285Leu F285L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCTN4 Phe342Leu F342L not reviewed Insufficiently evaluated not reviewed unknown Array rs11954652 31 128 0.242188 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DCTN4 Phe349Leu F349L not reviewed Insufficiently evaluated not reviewed unknown Array 2309 10758 0.214631 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DCTN5 Gly155Glu G155E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DCXR Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746217 39 10758 0.00362521 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - DDAH2 Pro4Arg P4R not reviewed Insufficiently evaluated not reviewed unknown Array rs73728976 121 7446 0.0162503 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - DDB1 Glu27Asp E27D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - DDC Arg462Gln R462Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11575542 686 10758 0.0637665 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - DDC Met217Val M217V not reviewed Insufficiently evaluated not reviewed unknown Array rs6263 242 10758 0.0224949 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 0 - 2 - 6 - - DDC Phe80Ser F80S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 5 Y 4 - 9 - - DDC Glu61Asp E61D not reviewed Insufficiently evaluated not reviewed unknown Array rs11575292 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.94 Y - -2 - 4 - 10 - - DDC Met17Val M17V not reviewed Insufficiently evaluated not reviewed unknown Array rs6264 10683 10758 0.993028 56 0 111 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 5 - - DDHD1 Gly150Cys G150C not reviewed Insufficiently evaluated not reviewed unknown Array rs73296180 205 10720 0.0191231 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.289 - - 7 Y 1 N - - DDHD1 Gly106Ala G106A not reviewed Insufficiently evaluated not reviewed unknown Array 276 10570 0.0261116 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - DDHD2 Thr186Met T186M not reviewed Insufficiently evaluated not reviewed unknown Array rs2306899 1888 10758 0.175497 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.159 - - 2 - 0 N - - DDI1 Gly136Ser G136S not reviewed Insufficiently evaluated not reviewed unknown Array rs7102675 1304 10758 0.121212 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DDI1 Ser380Leu S380L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - DDN Glu661Gly E661G not reviewed Insufficiently evaluated not reviewed unknown Array rs10783299 4501 10758 0.418386 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DDN Trp430Gly W430G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 7 Y 0 N - - DDN Pro358Arg P358R not reviewed Insufficiently evaluated not reviewed unknown Array 399 10758 0.0370887 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - DDO Gly236Arg G236R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDO Gly295Arg G295R not reviewed Insufficiently evaluated not reviewed unknown Array rs35697832 1047 10758 0.0973229 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 0 N - - DDO Gln158Glu Q158E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DDO Gln217Glu Q217E not reviewed Insufficiently evaluated not reviewed unknown Array rs17622 516 10758 0.0479643 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DDOST Arg8Gly R8G not reviewed Insufficiently evaluated not reviewed unknown Array rs537816 10394 10670 0.974133 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DDR1 Ser56Pro S56P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDR1 Thr195Pro T195P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DDR1 Tyr513His Y513H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDRGK1 Ala303Thr A303T not reviewed Insufficiently evaluated not reviewed unknown Array rs11591 1442 10758 0.13404 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DDRGK1 Arg164Leu R164L not reviewed Insufficiently evaluated not reviewed unknown Array rs35327491 207 10758 0.0192415 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - DDX11 Arg186Trp R186W not reviewed Insufficiently evaluated not reviewed unknown Array 1203 10756 0.111845 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.802 - - 7 Y 1 - 1 - - DDX11 Arg284His R284H not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - DDX11 Gln567Glu Q567E not reviewed Insufficiently evaluated not reviewed unknown Array rs2075322 5694 10758 0.529281 44 0 68 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DDX11 Ala607Pro A607P not reviewed Insufficiently evaluated not reviewed unknown Array 145 10750 0.0134884 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.803 - - 2 - 1 N - - DDX11 Arg856His R856H not reviewed Insufficiently evaluated not reviewed unknown Array rs1046457 5297 10746 0.492928 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DDX11 Val808Ile V808I not reviewed Insufficiently evaluated not reviewed unknown Array rs1046457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DDX11 Val858Ile V858I not reviewed Insufficiently evaluated not reviewed unknown Array rs1046457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DDX11 Cys951Arg C951R not reviewed Insufficiently evaluated not reviewed unknown Array rs1046458 2930 6088 0.481275 11 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DDX12 Arg881His R881H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX12 Glu834Asp E834D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DDX12 His827Pro H827P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DDX12 Arg728His R728H not reviewed Insufficiently evaluated not reviewed unknown Array 1408 3204 0.439451 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DDX12 Tyr712Stop Y712X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DDX12 Gly697Val G697V not reviewed Insufficiently evaluated not reviewed unknown Array 929 3234 0.28726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DDX12 Gly697Ser G697S not reviewed Insufficiently evaluated not reviewed unknown Array 1376 3234 0.425479 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DDX12 Ser665Ile S665I not reviewed Insufficiently evaluated not reviewed unknown Array 1550 3234 0.479283 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DDX12 Asn628Asp N628D not reviewed Insufficiently evaluated not reviewed unknown Array 2778 2968 0.935984 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DDX12 Ser404Gly S404G not reviewed Insufficiently evaluated not reviewed unknown Array 1448 1580 0.916456 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DDX12 Thr402Ile T402I not reviewed Insufficiently evaluated not reviewed unknown Array 1580 1714 0.92182 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DDX12 Pro368Ser P368S not reviewed Insufficiently evaluated not reviewed unknown Array 1279 2984 0.428619 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DDX12 Ser291Asn S291N not reviewed Insufficiently evaluated not reviewed unknown Array 217 3234 0.0670996 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX12 Asn283Asp N283D not reviewed Insufficiently evaluated not reviewed unknown Array 1546 1746 0.885452 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DDX12 Val272Met V272M not reviewed Insufficiently evaluated not reviewed unknown Array 1335 3178 0.420076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX12 His231Tyr H231Y not reviewed Insufficiently evaluated not reviewed unknown Array 98 108 0.907407 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DDX12 Arg167Thr R167T not reviewed Insufficiently evaluated not reviewed unknown Array 343 1366 0.251098 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DDX12 Arg143Cys R143C not reviewed Insufficiently evaluated not reviewed unknown Array 915 3130 0.292332 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DDX18 Thr94Ser T94S not reviewed Insufficiently evaluated not reviewed unknown Array rs1052637 4698 10756 0.436779 41 0 51 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - DDX19A Val10Gly V10G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DDX20 Ala592Asp A592D not reviewed Insufficiently evaluated not reviewed unknown Array rs6660448 155 10756 0.0144106 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 1 - - DDX20 Ile636Thr I636T not reviewed Insufficiently evaluated not reviewed unknown Array rs197412 5183 10758 0.481781 41 0 56 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DDX20 Arg693Ser R693S not reviewed Insufficiently evaluated not reviewed unknown Array rs197414 2267 10756 0.210766 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - DDX20 Ile762Thr I762T not reviewed Insufficiently evaluated not reviewed unknown Array rs85276 2270 10758 0.211006 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DDX24 Glu316Lys E316K not reviewed Insufficiently evaluated not reviewed unknown Array rs35413935 214 10758 0.0198922 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DDX24 Ser14Arg S14R not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.252 - - 3 - 1 N - - DDX27 Gly206Val G206V not reviewed Insufficiently evaluated not reviewed unknown Array rs11553387 2256 10758 0.209704 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.042 - - 8 Y 0 N - - DDX27 Gly766Ser G766S not reviewed Insufficiently evaluated not reviewed unknown Array rs1130146 3101 10758 0.288251 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.674 - - 2 - 0 N - - DDX28 Thr4Ala T4A not reviewed Insufficiently evaluated not reviewed unknown Array rs237831 9702 10230 0.948387 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DDX31 Ile799Val I799V not reviewed Insufficiently evaluated not reviewed unknown Array rs306547 8674 10758 0.806284 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DDX31 Ala675Ser A675S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX31 Asp451Asn D451N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - DDX31 Val273Leu V273L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.346 - - 0 - 1 N - - DDX31 Gly84Glu G84E not reviewed Insufficiently evaluated not reviewed unknown Array 130 10154 0.0128028 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX39 Val142Ile V142I not reviewed Insufficiently evaluated not reviewed unknown Array rs36127505 194 10758 0.0180331 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - DDX42 Thr742Ala T742A not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.309 - - 1 - 1 N - - DDX43 Lys625Glu K625E not reviewed Insufficiently evaluated not reviewed unknown Array rs311686 5224 10758 0.485592 46 0 60 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - DDX43 Gln629Arg Q629R not reviewed Insufficiently evaluated not reviewed unknown Array rs311685 5224 10758 0.485592 46 0 60 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DDX49 Val376Met V376M not reviewed Insufficiently evaluated not reviewed unknown Array rs73923185 152 10758 0.014129 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - DDX49 Arg467Gly R467G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10688 0.00065494 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX5 Ser480Ala S480A not reviewed Insufficiently evaluated not reviewed unknown Array rs1140409 528 10758 0.0490798 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 1 - 10 - - DDX50 Ala659Thr A659T not reviewed Insufficiently evaluated not reviewed unknown Array rs73268384 138 10758 0.0128277 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX51 Gln604Arg Q604R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729150 171 10076 0.016971 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DDX51 Glu575Gln E575Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10546 9.4822e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - DDX51 Ala322Val A322V not reviewed Insufficiently evaluated not reviewed unknown Array rs60927391 2765 9904 0.27918 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - DDX51 Ser313Phe S313F not reviewed Insufficiently evaluated not reviewed unknown Array 28 9936 0.00281803 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 5 Y 0 N - - DDX51 Gln295Arg Q295R not reviewed Insufficiently evaluated not reviewed unknown Array rs1133690 5794 10342 0.56024 41 0 58 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 0 N - - DDX52 His322Tyr H322Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX52 His430Tyr H430Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX52 Met295Val M295V not reviewed Insufficiently evaluated not reviewed unknown Array rs7216445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX52 Met403Val M403V not reviewed Insufficiently evaluated not reviewed unknown Array rs7216445 7503 10758 0.697434 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX53 Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DDX53 Arg391Met R391M not reviewed Insufficiently evaluated not reviewed unknown Array rs5926203 2398 8761 0.273713 20 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DDX53 Gly499Val G499V not reviewed Insufficiently evaluated not reviewed unknown Array 268 8761 0.0305901 3 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DDX54 Arg693Gln R693Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11564 509 10758 0.0473136 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - DDX54 Arg572Gln R572Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10754 0.00269667 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 2 - 1 - - DDX54 Gly6Arg G6R not reviewed Insufficiently evaluated not reviewed unknown Array rs2290766 416 8134 0.0511433 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DDX55 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.256 - - 0 - 1 N - - DDX55 Thr91Pro T91P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DDX55 Asn264Ser N264S not reviewed Insufficiently evaluated not reviewed unknown Array rs11057306 2116 10758 0.196691 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX55 Asn556Ser N556S not reviewed Insufficiently evaluated not reviewed unknown Array rs10773019 853 10758 0.0792898 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - DDX56 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 3 - 1 - - DDX56 Arg189Trp R189W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 3 - 1 - - DDX58 Ile916Thr I916T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - DDX58 Asp580Glu D580E not reviewed Insufficiently evaluated not reviewed unknown Array rs17217280 1127 10758 0.104759 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.924 - - -2 - 1 N - - DDX58 Ser144Phe S144F not reviewed Insufficiently evaluated not reviewed unknown Array rs55789327 298 10758 0.0277003 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DDX58 Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - DDX58 Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array rs10813831 2691 10758 0.250139 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 1 N - - DDX59 Ile475Val I475V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - DDX59 Ile107Val I107V not reviewed Insufficiently evaluated not reviewed unknown Array rs3795634 959 10758 0.089143 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DDX60 Val1479Ile V1479I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -4 - 0 N - - DDX60 Arg1028Gln R1028Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.453 - - 0 - 1 N - - DDX60 Ile998Val I998V not reviewed Insufficiently evaluated not reviewed unknown Array rs576619 977 10758 0.0908161 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DDX60 Val672Met V672M not reviewed Insufficiently evaluated not reviewed unknown Array rs550625 1137 10758 0.105689 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX60L Met1646Val M1646V not reviewed Insufficiently evaluated not reviewed unknown Array rs2684348 5496 9496 0.57877 43 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX60L Asn1488Asp N1488D not reviewed Insufficiently evaluated not reviewed unknown Array rs13110927 3970 9308 0.426515 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DDX60L Glu1222Asp E1222D not reviewed Insufficiently evaluated not reviewed unknown Array rs3749499 8771 9620 0.911746 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DDX60L Tyr959Cys Y959C not reviewed Insufficiently evaluated not reviewed unknown Array rs4692661 122 122 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DDX60L Cys831Arg C831R not reviewed Insufficiently evaluated not reviewed unknown Array rs2130145 9473 9624 0.98431 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DDX60L Val754Ala V754A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740705 1492 10758 0.138687 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 1 N - - DDX60L Ala583Thr A583T not reviewed Insufficiently evaluated not reviewed unknown Array rs2319850 356 9556 0.0372541 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX60L Val409Leu V409L not reviewed Insufficiently evaluated not reviewed unknown Array rs13151700 2529 9516 0.265763 23 0 33 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - DDX60L Asn355Lys N355K not reviewed Insufficiently evaluated not reviewed unknown Array rs10029536 849 9488 0.0894815 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.143 - - 1 - 0 N - - DDX60L Cys336Tyr C336Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12507582 2440 9448 0.258256 25 0 35 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - DEAF1 Met560Ile M560I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.117 - - -1 - 0 N - - DEAF1 Met243Val M243V not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 0 - 1 N - - DEC1 Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array rs2269700 7595 10758 0.705986 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DECR2 Asp11Gly D11G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - DECR2 Ser139Asn S139N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DECR2 Lys151Asn K151N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.661 - - 1 - 1 N - - DEDD2 Asn141Ser N141S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DEF6 Asn287Thr N287T not reviewed Insufficiently evaluated not reviewed unknown Array rs2395617 9320 10758 0.866332 53 0 95 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DEF8 Gln29Glu Q29E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DEF8 Gln90Glu Q90E not reviewed Insufficiently evaluated not reviewed unknown Array rs7194844 383 10758 0.0356014 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.081 - - -2 - 0 N - - DEF8 Met197Ile M197I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DEF8 Leu394Val L394V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - DEFA1 Asp65Ala D65A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DEFA3 Asp65Ala D65A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230231 253 10052 0.0251691 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DEFA4 Ala8Val A8V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - DEFA4 Ala8Pro A8P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - DEFA6 Asp27Asn D27N not reviewed Insufficiently evaluated not reviewed unknown Array rs45479905 691 10758 0.0642313 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DEFB1 Val38Ile V38I not reviewed Insufficiently evaluated not reviewed unknown Array rs2738047 476 10758 0.0442461 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 1 - 10 - - DEFB108B Ile27Val I27V not reviewed Insufficiently evaluated not reviewed unknown Array rs12285436 4 34 0.117647 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.302 - - -4 - 0 N - - DEFB108B Arg36Trp R36W not reviewed Insufficiently evaluated not reviewed unknown Array rs12793731 3 54 0.0555556 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 1 N - - DEFB108B His45Leu H45L not reviewed Insufficiently evaluated not reviewed unknown Array rs12285495 8 40 0.2 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - DEFB108B Gln53Arg Q53R not reviewed Insufficiently evaluated not reviewed unknown Array rs7120658 12 26 0.461538 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DEFB112 Pro89Arg P89R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DEFB113 Pro44Ala P44A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DEFB116 Gln19Leu Q19L not reviewed Insufficiently evaluated not reviewed unknown Array rs6119768 14 128 0.109375 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DEFB118 Ile56Val I56V not reviewed Insufficiently evaluated not reviewed unknown Array rs34173055 387 10758 0.0359732 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DEFB119 Cys49Phe C49F not reviewed Insufficiently evaluated not reviewed unknown Array rs17327630 3 128 0.0234375 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - DEFB119 Arg44Stop R44X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DEFB119 His28Arg H28R not reviewed Insufficiently evaluated not reviewed unknown Array rs6120064 8 128 0.0625 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DEFB125 His62Tyr H62Y not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DEFB126 Met51Thr M51T not reviewed Insufficiently evaluated not reviewed unknown Array 237 10758 0.0220301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - DEFB126 Lys76Arg K76R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DEFB126 Pro106Arg P106R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - DEFB126 Val107Phe V107F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - DEFB127 Gly31Arg G31R not reviewed Insufficiently evaluated not reviewed unknown Array rs12624954 2783 10758 0.258691 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 1 N - - DEFB127 Arg71Ser R71S not reviewed Insufficiently evaluated not reviewed unknown Array rs16995685 2792 10758 0.259528 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 0 N - - DEFB128 Ile84Thr I84T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - 3 - 1 N - - DEFB128 Lys27Asn K27N not reviewed Insufficiently evaluated not reviewed unknown Array rs4813043 6988 10758 0.649563 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DEFB129 Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - DEFB129 Thr149Ser T149S not reviewed Insufficiently evaluated not reviewed unknown Array rs1053783 2186 10758 0.203198 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - DEFB131 Ala46Val A46V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.583 - - 2 - 1 N - - DEFB131 Ala51Val A51V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - DEFB131 Asp52Tyr D52Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 7 Y 2 N - - DEFB131 Asp65Glu D65E not reviewed Insufficiently evaluated not reviewed unknown Array rs28373658 4 118 0.0338983 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DEFB132 Val93Ala V93A not reviewed Insufficiently evaluated not reviewed unknown Array rs73570482 219 10758 0.0203569 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 1 - 2 - - DEFB134 Val7Gly V7G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.26 - - 8 Y 1 N - - DEFB135 Glu52Lys E52K not reviewed Insufficiently evaluated not reviewed unknown Array rs73663074 376 9658 0.0389315 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - DEGS1 Asn255Tyr N255Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - DEGS2 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs4905937 1460 10728 0.136092 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.205 - - 1 - 0 N - - DEGS2 Ser8Asn S8N not reviewed Insufficiently evaluated not reviewed unknown Array rs7157599 6232 7922 0.78667 9 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DEM1 Asp115Asn D115N not reviewed Insufficiently evaluated not reviewed unknown Array rs1134586 1671 10758 0.155326 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.158 - - -1 - 0 N - - DEM1 Leu151Pro L151P not reviewed Insufficiently evaluated not reviewed unknown Array rs35672330 512 10758 0.0475925 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.948 - - 7 Y 2 N - - DEM1 Gly172Val G172V not reviewed Insufficiently evaluated not reviewed unknown Array rs11208299 4991 10758 0.463934 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DENND1B Met577Val M577V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND1B Gly543Ser G543S not reviewed Insufficiently evaluated not reviewed unknown Array 814 10758 0.0756646 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DENND1C Thr778Pro T778P not reviewed Insufficiently evaluated not reviewed unknown Array rs73920676 116 9792 0.0118464 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND1C Met569Val M569V not reviewed Insufficiently evaluated not reviewed unknown Array rs62107586 4022 10182 0.395011 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DENND2A Glu729Lys E729K not reviewed Insufficiently evaluated not reviewed unknown Array rs2293177 3097 10650 0.290798 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DENND2A Arg554Gln R554Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9836 0.000101667 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND2A Pro156His P156H not reviewed Insufficiently evaluated not reviewed unknown Array rs269243 9603 10066 0.954004 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DENND2C Ser223Pro S223P not reviewed Insufficiently evaluated not reviewed unknown Array rs61481107 77 10758 0.00715746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DENND2C Asp170Gly D170G not reviewed Insufficiently evaluated not reviewed unknown Array rs12136548 2366 10758 0.219929 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DENND2C Arg7His R7H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DENND2C Asp2Glu D2E not reviewed Insufficiently evaluated not reviewed unknown Array rs7541738 2173 10756 0.202027 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DENND3 Ser143Asn S143N not reviewed Insufficiently evaluated not reviewed unknown Array rs307761 2548 10758 0.236847 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DENND3 Cys721Tyr C721Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.066 - - 6 Y 0 N - - DENND3 Arg1138Gln R1138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73364408 19 10758 0.00176613 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - DENND4A Val1132Gly V1132G not reviewed Insufficiently evaluated not reviewed unknown Array 9 9618 0.000935745 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DENND4A Val1175Gly V1175G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DENND4A Ser1025Asn S1025N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND4A Ser982Asn S982N not reviewed Insufficiently evaluated not reviewed unknown Array 15 9762 0.00153657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - DENND4C Ile141Leu I141L not reviewed Insufficiently evaluated not reviewed unknown Array 282 10696 0.026365 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - DENND4C Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - DENND4C Gln296Arg Q296R not reviewed Insufficiently evaluated not reviewed unknown Array 278 10756 0.025846 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND4C Ser557Cys S557C not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - DENND4C Val991Gly V991G not reviewed Insufficiently evaluated not reviewed unknown Array rs34267952 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.918 - - 8 Y 3 - 2 - - DENND4C Thr1030Ala T1030A not reviewed Insufficiently evaluated not reviewed unknown Array rs17818730 635 10758 0.0590258 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DENND4C Ala1036Val A1036V not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - DENND4C Asn1107His N1107H not reviewed Insufficiently evaluated not reviewed unknown Array rs6475322 612 10758 0.0568879 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.95 - - 0 - 2 - 4 - - DENND4C Ile1176Val I1176V not reviewed Insufficiently evaluated not reviewed unknown Array rs73418021 242 10758 0.0224949 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DENND5A Ser315Thr S315T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - DENND5A Asn277Ser N277S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND5A Glu224Gln E224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs952374 2760 10758 0.256553 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DENND5B His487Asn H487N not reviewed Insufficiently evaluated not reviewed unknown Array rs1056320 1320 9856 0.133929 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - DENND5B Arg52Lys R52K not reviewed Insufficiently evaluated not reviewed unknown Array rs4930979 2991 9510 0.314511 23 0 31 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - DENR Val50Ile V50I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 1 - 1 - - DEPDC1 Ile404Arg I404R not reviewed Insufficiently evaluated not reviewed unknown Array rs3790479 507 7820 0.0648338 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DEPDC1 Ile176Thr I176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DEPDC1B Arg25His R25H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DEPDC4 His122Arg H122R not reviewed Insufficiently evaluated not reviewed unknown Array rs7307415 1393 10758 0.129485 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - DEPDC4 Asn113Ser N113S not reviewed Insufficiently evaluated not reviewed unknown Array rs57450214 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 1 - 1 - - DEPDC5 Ser491Thr S491T not reviewed Insufficiently evaluated not reviewed unknown Array rs8138516 392 10238 0.0382887 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DEPDC5 Ala641Val A641V not reviewed Insufficiently evaluated not reviewed unknown Array rs16989528 212 10166 0.0208538 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DEPDC5 Ser712Phe S712F not reviewed Insufficiently evaluated not reviewed unknown Array rs16989535 226 9656 0.0234051 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DEPDC5 Met1089Val M1089V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731662 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DEPDC5 Met1111Val M1111V not reviewed Insufficiently evaluated not reviewed unknown Array 226 9850 0.0229442 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DEPDC6 Asn148Ser N148S not reviewed Insufficiently evaluated not reviewed unknown Array 458 10758 0.042573 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DEPDC6 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DEPDC6 Asn204Ser N204S not reviewed Insufficiently evaluated not reviewed unknown Array rs2271900 6960 10758 0.64696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DEPDC6 Ser389Asn S389N not reviewed Insufficiently evaluated not reviewed unknown Array 2821 10758 0.262223 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DEPDC7 Val29Ile V29I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DEPDC7 Val38Ile V38I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - DEPDC7 Thr455Ile T455I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DEPDC7 Thr464Ile T464I not reviewed Insufficiently evaluated not reviewed unknown Array rs17852859 292 9450 0.0308995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DERL1 Gly216Glu G216E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 6 Y 0 N - - DERL1 Gly236Glu G236E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 6 Y 1 N - - DERL1 Ile171Val I171V not reviewed Insufficiently evaluated not reviewed unknown Array rs2272722 848 10756 0.0788397 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DERL3 Ala211Val A211V not reviewed Insufficiently evaluated not reviewed unknown Array rs1128127 33 126 0.261905 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DERL3 Phe149Leu F149L not reviewed Insufficiently evaluated not reviewed unknown Array rs3177243 2073 10758 0.192694 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.118 - - 0 - 0 N - - DES Ala213Val A213V benign Insufficiently evaluated benign recessive Array rs41272699 116 10758 0.0107827 2 0 2 1 1 - - - - - - - - - - - - Y - - - 0.108 Y Y 2 - 3 - 10 - - Reported in 2004 as a low penetrance allele for Restrictive myopathy and progressive skeletal myopathy. A dissertation published in 2007 (Kostareva, Karolinska Ins.) reports new evidence that it is a benign polymorphism. DES Val459Ile V459I not reviewed Insufficiently evaluated not reviewed unknown Array rs73991549 124 10756 0.0115284 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - DFFB Arg196Lys R196K not reviewed Insufficiently evaluated not reviewed unknown Array rs12738235 1022 10758 0.0949991 14 0 13 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DFNA5 Ile211Thr I211T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.945 Y - 3 - 3 N - - DFNA5 Ile47Thr I47T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - DFNA5 Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array rs12540919 847 10758 0.0787321 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.715 Y - 0 - 2 - 4 - - DFNA5 Val43Met V43M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DFNA5 Pro142Thr P142T not reviewed Insufficiently evaluated not reviewed unknown Array rs754554 1791 10758 0.166481 23 0 27 0 0 - - - - - - - - - - - - Y - - - 0.292 Y - 4 Y 1 N - - DFNA5 Val109Leu V109L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.472 Y - 0 - 2 N - - DFNB31 His479Gln H479Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DFNB31 His862Gln H862Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DFNB31 Asn413Lys N413K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DFNB31 Asn796Lys N796K not reviewed Insufficiently evaluated not reviewed unknown Array rs2274158 1950 10758 0.18126 20 0 22 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - DFNB31 Val400Ala V400A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DFNB31 Val783Ala V783A not reviewed Insufficiently evaluated not reviewed unknown Array rs2274159 4433 10758 0.412065 39 0 50 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - DFNB31 His369Gln H369Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DFNB31 His752Gln H752Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6478078 10690 10758 0.993679 56 0 109 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - DFNB31 Met230Thr M230T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DFNB31 Met613Thr M613T not reviewed Insufficiently evaluated not reviewed unknown Array rs942519 5295 10756 0.492283 45 0 58 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - DFNB31 Pro179Ala P179A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DFNB31 Pro562Ala P562A not reviewed Insufficiently evaluated not reviewed unknown Array rs12339210 979 10752 0.0910528 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - DFNB31 Ala440Thr A440T not reviewed Insufficiently evaluated not reviewed unknown Array rs4978584 1963 10758 0.182469 20 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - DFNB31 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DFNB31 Arg364His R364H not reviewed Insufficiently evaluated not reviewed unknown Array rs10817610 10550 10758 0.980666 56 0 107 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - DFNB31 Arg364Pro R364P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - DFNB59 Arg265Cys R265C not reviewed Insufficiently evaluated not reviewed unknown Array rs17304212 636 9632 0.0660299 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.962 Y - 8 Y 2 N - - DFNB59 Gly292Arg G292R benign Insufficiently evaluated benign recessive Array 237 9634 0.0246004 6 0 5 1 1 - - - - - - - - - - - - Y - - - 0.293 Y - 6 Y 2 N - - This variant was seen homozygously in an Iranian individual with non-syndromic hearing loss. Its frequency in 1000 genomes data makes p. benign. DGAT1 Thr248Asn T248N not reviewed Insufficiently evaluated not reviewed unknown Array rs55962377 794 10750 0.0738605 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - DGAT2L6 Leu244Trp L244W not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DGCR14 Ala423Val A423V not reviewed Insufficiently evaluated not reviewed unknown Array rs712965 1038 10758 0.0964863 16 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DGCR14 Gly130Ser G130S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGCR2 Val473Ala V473A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072123 4530 10756 0.42116 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DGCR2 Gly442Ser G442S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGCR6L Asn195Lys N195K not reviewed Insufficiently evaluated not reviewed unknown Array 144 10756 0.0133879 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - DGCR6L Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array 144 10740 0.0134078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGCR8 Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array rs35987994 442 10758 0.0410857 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKA Asn97Ser N97S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DGKA Asn347Lys N347K not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DGKD Asp336Gly D336G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DGKD Asp380Gly D380G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - DGKD Ser1164Thr S1164T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DGKD Ser1208Thr S1208T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -2 - 0 N - - DGKE Gly20Glu G20E not reviewed Insufficiently evaluated not reviewed unknown Array rs73994915 135 10754 0.0125535 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 1 - 1 - - DGKG Ile618Val I618V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKG Ile632Val I632V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKG Ile657Val I657V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKG Val477Gly V477G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DGKG Val491Gly V491G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DGKG Val516Gly V516G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DGKG Arg316Lys R316K not reviewed Insufficiently evaluated not reviewed unknown Array rs2193587 8883 10758 0.825711 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DGKG Thr142Ser T142S not reviewed Insufficiently evaluated not reviewed unknown Array rs1004588 5268 10758 0.489682 46 0 62 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DGKH Asn338Ser N338S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DGKH Val1201Ala V1201A not reviewed Insufficiently evaluated not reviewed unknown Array rs17646069 231 10758 0.0214724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.508 - - 2 - 1 N - - DGKI Ser410Cys S410C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - DGKK Met1117Ile M1117I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - DGKZ Ala10Asp A10D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DGKZ Gln21Arg Q21R not reviewed Insufficiently evaluated not reviewed unknown Array rs1317826 3863 9206 0.419618 31 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DGKZ Ala209Gly A209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 1 - 1 N - - DHCR7 Val338Met V338M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DHDDS Val253Met V253M not reviewed Insufficiently evaluated not reviewed unknown Array rs3816539 3101 10758 0.288251 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHDH Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 41 10754 0.00381253 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 4 Y 3 - 8 - - DHDH Ala2Pro A2P not reviewed Insufficiently evaluated not reviewed unknown Array rs10401800 795 10754 0.073926 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 1 N - - DHDH Ser66Asn S66N not reviewed Insufficiently evaluated not reviewed unknown Array rs2270941 4069 10720 0.379571 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHDH Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742532 169 10752 0.015718 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.619 - - -4 - 2 - 1 - - DHDH Val247Ala V247A not reviewed Insufficiently evaluated not reviewed unknown Array rs11666105 3543 10758 0.329336 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DHDH Pro307Leu P307L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 3 - 1 - - DHFRL1 Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array rs17855824 930 10758 0.0864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.59 - - -4 - 0 N - - DHFRL1 Pro83Ala P83A not reviewed Insufficiently evaluated not reviewed unknown Array rs61739170 1853 10758 0.172244 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - DHODH Lys7Gln K7Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3213422 5297 9766 0.542392 47 0 66 1 1 - - - - - - - - - - - - - - - Y 0.004 - - -2 - 1 N - - DHODH Leu153Ile L153I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741731 35 9890 0.00353893 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 1 - 1 - - DHODH Ala341Val A341V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733129 197 10218 0.0192797 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - DHPS Glu174Asp E174D not reviewed Insufficiently evaluated not reviewed unknown Array rs10425108 434 10758 0.0403421 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DHRS1 Thr241Ile T241I not reviewed Insufficiently evaluated not reviewed unknown Array rs10134537 954 10758 0.0886782 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 0 N - - DHRS1 Pro193Thr P193T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DHRS12 Gly200Arg G200R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DHRS13 Leu336Gln L336Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4795472 1577 10758 0.146589 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DHRS2 Arg58Trp R58W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS2 Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10752 0.00362723 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DHRS2 Val292Ala V292A not reviewed Insufficiently evaluated not reviewed unknown Array rs7156794 1304 10758 0.121212 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DHRS4 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs17099455 2398 10758 0.222904 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DHRS4 Arg64Gln R64Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRS4L1 Arg5Gly R5G not reviewed Insufficiently evaluated not reviewed unknown Array rs8005834 3679 10758 0.341978 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DHRS4L1 Arg63Ser R63S not reviewed Insufficiently evaluated not reviewed unknown Array rs12587718 2868 10758 0.266592 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DHRS4L1 Arg98Gln R98Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55933233 263 10752 0.0244606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRS4L1 Leu203Gln L203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745384 388 10758 0.0360662 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DHRS4L2 Gln2His Q2H not reviewed Insufficiently evaluated not reviewed unknown Array rs2273946 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DHRS4L2 Met19Leu M19L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DHRS4L2 Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRS7 Ala120Val A120V not reviewed Insufficiently evaluated not reviewed unknown Array rs61742394 58 10758 0.00539134 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - DHRS7B Thr20Pro T20P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - 4 Y 1 N - - DHRS7C Ser226Leu S226L not reviewed Insufficiently evaluated not reviewed unknown Array rs2280490 1067 10740 0.0993482 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 2 - - DHRS9 Arg78Cys R78C not reviewed Insufficiently evaluated not reviewed unknown Array rs61995931 186 10758 0.0172895 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - DHRSX His292Arg H292R not reviewed Insufficiently evaluated not reviewed unknown Array rs67716262 9153 10750 0.851442 52 0 95 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DHRSX Val247Leu V247L not reviewed Insufficiently evaluated not reviewed unknown Array rs67108713 8173 10750 0.760279 47 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHTKD1 Phe20Leu F20L not reviewed Insufficiently evaluated not reviewed unknown Array rs1279138 10341 10698 0.966629 29 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHTKD1 Ala70Gly A70G not reviewed Insufficiently evaluated not reviewed unknown Array rs34644609 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 1 - 1 N - - DHTKD1 Tyr272Asp Y272D not reviewed Insufficiently evaluated not reviewed unknown Array rs3740015 5168 10758 0.480387 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DHTKD1 Asn350Asp N350D not reviewed Insufficiently evaluated not reviewed unknown Array rs34716552 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 1 - 3 - - DHTKD1 Ile607Met I607M not reviewed Insufficiently evaluated not reviewed unknown Array rs2062988 7985 10758 0.742238 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DHX29 Asn542Asp N542D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DHX30 Glu380Lys E380K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX30 Glu419Lys E419K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - DHX30 Met576Thr M576T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX30 Met615Thr M615T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.151 - - 2 - 0 N - - DHX33 His483Asp H483D not reviewed Insufficiently evaluated not reviewed unknown Array rs11653658 795 10758 0.0738985 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DHX33 Ala406Thr A406T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - DHX33 Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array rs8069315 1598 10758 0.148541 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 1 N - - DHX33 Arg88Gln R88Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10720 0.00261194 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.872 - - 0 - 2 N - - DHX34 Arg17Trp R17W not reviewed Insufficiently evaluated not reviewed unknown Array rs12984558 522 10758 0.048522 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHX34 Gly117Asp G117D not reviewed Insufficiently evaluated not reviewed unknown Array rs8113564 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - DHX34 Pro300Arg P300R not reviewed Insufficiently evaluated not reviewed unknown Array rs34802163 231 10758 0.0214724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DHX34 Arg632Trp R632W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHX35 Ser399Leu S399L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - 6 Y 0 N - - DHX35 Ala512Thr A512T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - DHX35 Pro703Leu P703L not reviewed Insufficiently evaluated not reviewed unknown Array rs3752302 1416 10758 0.131623 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DHX36 Ser416Cys S416C not reviewed Insufficiently evaluated not reviewed unknown Array rs9438 4180 10758 0.388548 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DHX37 Arg1081Gln R1081Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4447263 5716 10758 0.531326 46 0 60 0 0 - - - - - - - - - - - - - - - - 0.136 - - 0 - 0 N - - DHX37 Ser869Gly S869G not reviewed Insufficiently evaluated not reviewed unknown Array rs4516060 5799 10758 0.539041 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DHX37 Arg458Gln R458Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11057939 1194 10758 0.110987 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 - 3 - - DHX37 Ala222Gly A222G not reviewed Insufficiently evaluated not reviewed unknown Array 125 10756 0.0116214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX37 Met96Ile M96I not reviewed Insufficiently evaluated not reviewed unknown Array rs11558556 3913 10758 0.363729 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DHX38 Thr16Ser T16S not reviewed Insufficiently evaluated not reviewed unknown Array rs35794819 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DHX57 Asn587Ser N587S not reviewed Insufficiently evaluated not reviewed unknown Array rs7598922 5745 10758 0.534021 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHX57 Ser410Phe S410F not reviewed Insufficiently evaluated not reviewed unknown Array rs11893062 537 10758 0.0499163 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.799 - - 5 Y 1 N - - DHX58 Gln546Arg Q546R not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX58 Arg523Gln R523Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2074160 1174 10758 0.109128 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - DHX58 Gln425Arg Q425R not reviewed Insufficiently evaluated not reviewed unknown Array rs2074158 3819 10758 0.354992 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHX58 Thr76Ala T76A not reviewed Insufficiently evaluated not reviewed unknown Array rs34891485 384 10758 0.0356944 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DHX8 Lys147Arg K147R not reviewed Insufficiently evaluated not reviewed unknown Array rs73319152 21 10758 0.00195204 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DIABLO Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 6 - - DIAPH1 Gly626Ala G626A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DIAPH1 Gly635Ala G635A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DIAPH3 Pro315Leu P315L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DIAPH3 Pro578Leu P578L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9838 0.000711526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - DIAPH3 Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIAPH3 Asn363Ser N363S not reviewed Insufficiently evaluated not reviewed unknown Array rs36084898 640 9690 0.0660475 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 1 N - - DIAPH3 Lys237Asn K237N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9458 0.00010573 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DICER1 Ile853Val I853V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729795 29 10758 0.00269567 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.85 - - -4 - 2 N - - DIDO1 Val1743Gly V1743G not reviewed Insufficiently evaluated not reviewed unknown Array rs57164938 511 10746 0.0475526 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DIDO1 Ser1708Cys S1708C not reviewed Insufficiently evaluated not reviewed unknown Array rs41282984 966 10758 0.0897936 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DIDO1 Thr1568Ala T1568A not reviewed Insufficiently evaluated not reviewed unknown Array rs910148 10029 10130 0.99003 22 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DIDO1 Thr1339Ser T1339S not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DIDO1 Pro1220Gln P1220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6011441 2428 10758 0.225693 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DIDO1 Glu901Lys E901K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIDO1 Lys791Met K791M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DIDO1 Ala556Thr A556T not reviewed Insufficiently evaluated not reviewed unknown Array rs1883847 2480 10758 0.230526 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DIDO1 Met544Thr M544T not reviewed Insufficiently evaluated not reviewed unknown Array rs1883848 4511 10752 0.41955 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DIDO1 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DIO2 Thr128Ala T128A not reviewed Insufficiently evaluated not reviewed unknown Array rs225014 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIO2 Thr92Ala T92A not reviewed Insufficiently evaluated not reviewed unknown Array rs225014 3944 10104 0.39034 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DIP2A Pro127Ala P127A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DIP2A Pro191Ala P191A not reviewed Insufficiently evaluated not reviewed unknown Array rs7283507 632 10282 0.0614666 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - DIP2A Ser308Asn S308N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DIP2A Ser329Asn S329N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DIP2A Ser368Asn S368N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DIP2A Ser372Asn S372N not reviewed Insufficiently evaluated not reviewed unknown Array rs16979312 394 9194 0.042854 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 1 - 1 - - DIP2A Arg538Gln R538Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIP2A Arg559Gln R559Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - DIP2A Arg598Gln R598Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIP2A Arg602Gln R602Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10248 0.00117096 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DIP2B Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DIP2B Thr349Ser T349S not reviewed Insufficiently evaluated not reviewed unknown Array rs58366731 228 10758 0.0211935 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - DIP2B Arg484Trp R484W not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - DIP2C Ile960Met I960M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10750 0.000465116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DIP2C Asn491Ser N491S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.823 - - 0 - 1 N - - DIRAS2 Ser77Phe S77F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.535 - - 5 Y 1 N - - DIRAS3 Ala28Ser A28S not reviewed Insufficiently evaluated not reviewed unknown Array rs35600387 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DIRC1 Leu92Ser L92S not reviewed Insufficiently evaluated not reviewed unknown Array rs58846152 286 10758 0.0265849 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DIS3 Thr296Arg T296R not reviewed Insufficiently evaluated not reviewed unknown Array rs7332388 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DIS3 Thr326Arg T326R not reviewed Insufficiently evaluated not reviewed unknown Array rs7332388 5422 10758 0.503997 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DIS3 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array rs4883918 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIS3 Asn269Ser N269S not reviewed Insufficiently evaluated not reviewed unknown Array rs4883918 2512 10750 0.233674 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DIS3L Ile435Val I435V not reviewed Insufficiently evaluated not reviewed unknown Array rs34668776 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DIS3L Ile518Val I518V not reviewed Insufficiently evaluated not reviewed unknown Array rs34668776 451 10758 0.0419223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - DIS3L Asp531Gly D531G not reviewed Insufficiently evaluated not reviewed unknown Array rs3803412 30 128 0.234375 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DIS3L Asp614Gly D614G not reviewed Insufficiently evaluated not reviewed unknown Array rs3803412 2664 10758 0.24763 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - DIS3L Asn664Ser N664S not reviewed Insufficiently evaluated not reviewed unknown Array rs17258507 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DIS3L Asn747Ser N747S not reviewed Insufficiently evaluated not reviewed unknown Array rs17258507 636 10758 0.0591188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - DIS3L Arg676Cys R676C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DIS3L Arg759Cys R759C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DIS3L Glu887Asp E887D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DIS3L Glu970Asp E970D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - -2 - 1 N - - DIS3L2 Pro12Ser P12S not reviewed Insufficiently evaluated not reviewed unknown Array rs723044 794 9572 0.0829503 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DISC1 Ser76Phe S76F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - DISC1 Arg264Gln R264Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3738401 2778 10758 0.258226 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DISC1 Leu330Phe L330F not reviewed Insufficiently evaluated not reviewed unknown Array rs34622148 96 10758 0.00892359 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 3 - 2 - - DISC1 Arg345Gln R345Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 2 - 1 - - DISC1 Leu607Phe L607F not reviewed Insufficiently evaluated not reviewed unknown Array rs6675281 1660 10758 0.154304 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - DISC1 Ser704Cys S704C not reviewed Insufficiently evaluated not reviewed unknown Array rs821616 2912 9960 0.292369 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.877 - - 3 - 1 N - - DISP1 Glu103Lys E103K not reviewed Insufficiently evaluated not reviewed unknown Array 1603 10758 0.149005 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - DISP1 Glu103Asp E103D not reviewed Insufficiently evaluated not reviewed unknown Array 1603 10758 0.149005 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - -2 - 0 N - - DISP1 Gly1070Asp G1070D not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.148 - - 4 Y 0 N - - DISP1 Ala1247Thr A1247T not reviewed Insufficiently evaluated not reviewed unknown Array rs9441940 1494 10758 0.138873 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DISP1 Val1261Met V1261M not reviewed Insufficiently evaluated not reviewed unknown Array rs61746480 447 10758 0.0415505 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DISP1 Lys1343Stop K1343X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DISP2 Pro47Ala P47A not reviewed Insufficiently evaluated not reviewed unknown Array rs1898883 7100 10758 0.659974 54 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DISP2 Cys56Ser C56S not reviewed Insufficiently evaluated not reviewed unknown Array rs1898882 5236 10758 0.486708 50 0 72 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - DISP2 Arg114Gln R114Q not reviewed Insufficiently evaluated not reviewed unknown Array 352 10758 0.0327198 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 1 - 1 - - DISP2 Gly388Glu G388E not reviewed Insufficiently evaluated not reviewed unknown Array rs35043215 578 10758 0.0537275 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DISP2 Gly577Val G577V not reviewed Insufficiently evaluated not reviewed unknown Array 242 10756 0.0224991 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - DISP2 Arg1247Trp R1247W not reviewed Insufficiently evaluated not reviewed unknown Array rs3743142 2 10740 0.000186219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - DKFZP564O0823 Ser127Leu S127L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DKFZP564O0823 Val264Met V264M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DKFZP686E2433 Thr112Ala T112A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DKFZP686E2433 Gln130His Q130H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DKFZP686E2433 Glu159Asp E159D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DKFZP686E2433 Lys515Glu K515E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DKFZP761E198 Arg342Cys R342C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DKFZP761E198 Leu154Phe L154F not reviewed Insufficiently evaluated not reviewed unknown Array rs12146493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DKFZP761E198 Gly113Val G113V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DKK2 Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17037102 861 10758 0.0800335 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 0 N - - DKK3 Arg335Gly R335G not reviewed Insufficiently evaluated not reviewed unknown Array rs3206824 8342 10758 0.775423 33 0 54 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DKK3 Ser327Arg S327R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DKK3 Ser93Gly S93G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - DKK3 Gly35Ser G35S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DKK3 Pro34Ser P34S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DKK3 Lys33Asn K33N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - DKKL1 Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array rs919364 3470 10758 0.322551 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DKKL1 Leu104Ile L104I not reviewed Insufficiently evaluated not reviewed unknown Array rs35693137 443 10758 0.0411787 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - DKKL1 Met109Arg M109R not reviewed Insufficiently evaluated not reviewed unknown Array rs2303759 2974 10758 0.276445 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DKKL1 Gly187Ser G187S not reviewed Insufficiently evaluated not reviewed unknown Array rs1054770 2902 10758 0.269753 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 0 N - - DKKL1 Glu214Lys E214K not reviewed Insufficiently evaluated not reviewed unknown Array rs2288481 2378 10758 0.221045 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - DLAT Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303436 3286 10756 0.305504 35 0 42 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - DLAT Pro63Thr P63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - DLAT Gln209Arg Q209R not reviewed Insufficiently evaluated not reviewed unknown Array rs11553595 525 10758 0.0488009 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DLAT Val318Ala V318A not reviewed Insufficiently evaluated not reviewed unknown Array rs627441 5396 10758 0.50158 46 0 68 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - DLAT Pro331Ala P331A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - DLAT Asp451Asn D451N not reviewed Insufficiently evaluated not reviewed unknown Array rs10891314 3009 10754 0.279803 30 0 34 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - DLC1 Ile1074Met I1074M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DLC1 Ile1511Met I1511M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DLC1 Val354Met V354M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLC1 Val791Met V791M not reviewed Insufficiently evaluated not reviewed unknown Array rs532841 5693 10758 0.529188 42 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DLC1 Ser314Asn S314N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLC1 Ser751Asn S751N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLC1 Thr417Ile T417I not reviewed Insufficiently evaluated not reviewed unknown Array rs73551600 26 10758 0.00241681 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - DLC1 Gln320His Q320H not reviewed Insufficiently evaluated not reviewed unknown Array rs34591797 490 10758 0.0455475 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DLC1 Thr260Ile T260I not reviewed Insufficiently evaluated not reviewed unknown Array rs3816747 9769 10758 0.908068 56 0 100 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DLC1 Asn255Asp N255D not reviewed Insufficiently evaluated not reviewed unknown Array rs11203494 10156 10758 0.944042 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DLC1 Gln254His Q254H not reviewed Insufficiently evaluated not reviewed unknown Array rs11203495 9250 10758 0.859825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DLC1 Leu81Val L81V not reviewed Insufficiently evaluated not reviewed unknown Array rs3816748 127 10758 0.0118052 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLD Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 10 - - DLEC1 Leu79Arg L79R not reviewed Insufficiently evaluated not reviewed unknown Array rs7625806 4051 10088 0.401566 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.094 - - 6 Y 0 N - - DLEC1 Arg193Lys R193K not reviewed Insufficiently evaluated not reviewed unknown Array 20 9860 0.0020284 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - DLEC1 Met1177Val M1177V not reviewed Insufficiently evaluated not reviewed unknown Array rs73827604 73 9980 0.00731463 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - DLEC1 Asp1772Asn D1772N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DLEC1 Asp1772His D1772H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DLEU7 Ala83Val A83V not reviewed Insufficiently evaluated not reviewed unknown Array rs898861 942 7190 0.131015 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 1 - 1 - - DLG1 Arg278Gln R278Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1134986 1130 10754 0.105077 10 0 13 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - DLG5 Leu1739Pro L1739P not reviewed Insufficiently evaluated not reviewed unknown Array rs74140333 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DLG5 Ala1738Thr A1738T not reviewed Insufficiently evaluated not reviewed unknown Array rs74140334 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLG5 Ala1600Val A1600V not reviewed Insufficiently evaluated not reviewed unknown Array rs4979794 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.101 - - 2 - 0 N - - DLG5 Gln882His Q882H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DLG5 Phe847Leu F847L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 0 - 2 N - - DLG5 Gln140Arg Q140R not reviewed Insufficiently evaluated not reviewed unknown Array rs1248696 9992 10758 0.928797 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DLGAP2 Pro384Gln P384Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2301963 4470 10604 0.421539 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DLGAP3 Asp822Tyr D822Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 3 - 1 - - DLGAP4 Gly165Ser G165S not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DLGAP4 Arg211Gln R211Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLGAP4 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLGAP4 Arg747Gln R747Q not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLGAP5 Thr469Ile T469I not reviewed Insufficiently evaluated not reviewed unknown Array rs17128275 982 10756 0.0912979 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.909 - - 3 - 1 N - - DLGAP5 Thr445Ser T445S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - -2 - 2 N - - DLGAP5 Gln324His Q324H not reviewed Insufficiently evaluated not reviewed unknown Array rs8010791 982 10758 0.0912809 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 1 N - - DLGAP5 Gly69Glu G69E not reviewed Insufficiently evaluated not reviewed unknown Array rs2274271 3409 10754 0.316998 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DLK1 Arg101Gly R101G not reviewed Insufficiently evaluated not reviewed unknown Array rs6575799 10719 10758 0.996375 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DLK1 Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array rs2273607 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - DLK2 Val291Met V291M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - DLK2 Asp233Asn D233N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 N - - DLL3 Leu142Gln L142Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55741253 361 6696 0.0539128 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.707 Y Y 5 Y 3 - 1 - - DLL3 Phe172Cys F172C not reviewed Insufficiently evaluated not reviewed unknown Array 548 3574 0.15333 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 4 Y 4 - 1 - - DLL3 Leu218Pro L218P not reviewed Insufficiently evaluated not reviewed unknown Array rs1110627 6378 10758 0.592861 44 0 65 1 1 1 Y - - ! - - - ! - - - Y - - - - Y Y 7 Y 3 - 1 - - DLST Phe251Tyr F251Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61741963 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - DLX3 Glu192Lys E192K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - 0 - 0 N - - DLX4 Asn44Ser N44S not reviewed Insufficiently evaluated not reviewed unknown Array rs61749026 535 10758 0.0497304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DMBT1 Pro42Thr P42T not reviewed Insufficiently evaluated not reviewed unknown Array rs11523871 6549 9688 0.675991 50 0 79 0 0 - - - - - - - - - - - - - - - - 0.941 - - 4 Y 1 N - - DMBT1 Ser54Leu S54L not reviewed Insufficiently evaluated not reviewed unknown Array rs3013236 6575 9720 0.67644 49 0 77 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 0 N - - DMBT1 His1074Tyr H1074Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - DMBT1 His1084Tyr H1084Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2277244 218 9830 0.022177 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - DMBT1 His585Tyr H585Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DMBT1 Ser1393Gly S1393G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMBT1 Ser2011Gly S2011G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMBT1 Ser2021Gly S2021G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - DMBX1 Ala200Pro A200P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - DMBX1 Ala205Pro A205P not reviewed Insufficiently evaluated not reviewed unknown Array rs34614765 429 10710 0.040056 5 0 5 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - DMC1 Met200Val M200V not reviewed Insufficiently evaluated not reviewed unknown Array rs2227914 417 10758 0.0387619 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.118 - - 0 - 1 - 10 - - DMD Arg1593Gln R1593Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - DMD Arg1596Gln R1596Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - DMD Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DMD Arg2814Gln R2814Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DMD Arg2929Gln R2929Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - DMD Arg2933Gln R2933Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - DMD Arg2937Gln R2937Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800280 8379 8759 0.956616 54 0 106 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - DMD Arg477Gln R477Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DMD Glu1672Gln E1672Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DMD Glu1787Gln E1787Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DMD Glu1791Gln E1791Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DMD Glu1795Gln E1795Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.875 Y Y -2 - 4 N - - DMD Glu451Gln E451Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DMD Glu454Gln E454Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - DMD Arg1622His R1622H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Arg1737His R1737H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Arg1741His R1741H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Arg1745His R1745H not reviewed Insufficiently evaluated not reviewed unknown Array rs1801187 2947 8759 0.336454 15 0 27 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 3 N - - DMD Arg401His R401H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Arg404His R404H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Lys1387Arg K1387R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - DMD Lys1502Arg K1502R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - DMD Lys1506Arg K1506R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - DMD Lys1510Arg K1510R not reviewed Insufficiently evaluated not reviewed unknown Array rs72468638 3 8753 0.000342739 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.884 Y Y -3 - 4 N - - DMD Lys166Arg K166R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - DMD Lys169Arg K169R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - DMD Asp759Gly D759G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DMD Asp874Gly D874G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 1 - - DMD Asp878Gly D878G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 1 - - DMD Asp882Gly D882G not reviewed Insufficiently evaluated not reviewed unknown Array rs228406 5693 8759 0.64996 39 0 71 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 1 - - DMD Ser543Leu S543L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Ser658Leu S658L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Ser662Leu S662L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Ser666Leu S666L not reviewed Insufficiently evaluated not reviewed unknown Array rs34563188 51 8759 0.00582258 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.971 Y Y 6 Y 4 N - - DMGDH Phe754Ser F754S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - DMGDH Ser646Pro S646P not reviewed Insufficiently evaluated not reviewed unknown Array rs1805074 3729 10758 0.346626 34 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DMGDH Ala530Gly A530G not reviewed Insufficiently evaluated not reviewed unknown Array rs1805073 3771 10758 0.35053 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DMGDH Ser279Pro S279P not reviewed Insufficiently evaluated not reviewed unknown Array rs532964 5925 10758 0.550753 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DMKN Asp140Ala D140A not reviewed Insufficiently evaluated not reviewed unknown Array rs909072 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMKN Asp41Ala D41A not reviewed Insufficiently evaluated not reviewed unknown Array rs909072 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMKN Asp427Ala D427A not reviewed Insufficiently evaluated not reviewed unknown Array rs909072 10698 10758 0.994423 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DMKN Asp74Ala D74A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMKN Gly284Ser G284S not reviewed Insufficiently evaluated not reviewed unknown Array rs12981076 2538 10668 0.237908 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DMKN Gly280Ser G280S not reviewed Insufficiently evaluated not reviewed unknown Array rs11667007 2153 10518 0.204697 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DMKN Ser248Ile S248I not reviewed Insufficiently evaluated not reviewed unknown Array rs57760262 312 10756 0.0290071 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMKN Asn139Ser N139S not reviewed Insufficiently evaluated not reviewed unknown Array rs7247001 1264 10758 0.117494 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.133 - - 0 - 0 N - - DMKN Val91Ala V91A not reviewed Insufficiently evaluated not reviewed unknown Array rs4806163 8996 10758 0.836215 53 0 94 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - DMKN Glu69Asp E69D not reviewed Insufficiently evaluated not reviewed unknown Array rs12460932 2473 10758 0.229875 32 0 33 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - DMP1 Ser53Cys S53C not reviewed Insufficiently evaluated not reviewed unknown Array 2982 10758 0.277189 2 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - DMP1 Ser69Cys S69C not reviewed Insufficiently evaluated not reviewed unknown Array rs10019009 40 128 0.3125 30 0 36 0 0 - - - - - - - - - - - - Y - - - 0.428 Y - 3 - 2 - 3 - - DMP1 Gln143Lys Q143K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - DMP1 Gln159Lys Q159K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.481 Y - -2 - 2 N - - DMPK Thr539Met T539M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DMPK Thr544Met T544M not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DMPK Thr554Met T554M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DMPK Arg488Cys R488C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DMPK Arg493Cys R493C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10650 0.00103286 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DMPK Arg503Cys R503C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DMPK Leu418Val L418V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DMPK Leu423Val L423V not reviewed Insufficiently evaluated not reviewed unknown Array rs527221 1023 10756 0.0951097 13 0 13 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - DMPK Leu433Val L433V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DMRT1 Ser45Thr S45T not reviewed Insufficiently evaluated not reviewed unknown Array rs3739583 1051 9372 0.112143 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - DMRT1 Lys346Arg K346R not reviewed Insufficiently evaluated not reviewed unknown Array rs35846503 226 10758 0.0210076 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DMRT2 Pro271Ala P271A not reviewed Insufficiently evaluated not reviewed unknown Array rs72703236 237 10758 0.0220301 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMRT2 Ala381Pro A381P not reviewed Insufficiently evaluated not reviewed unknown Array rs3824419 3112 10758 0.289273 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DMRT2 Arg382Gln R382Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72703237 237 10758 0.0220301 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMRT2 Glu458Gln E458Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17641078 1004 10758 0.0933259 6 0 7 0 0 - - - - - - - - - - - - - - Y - - - - -2 - 1 N - - DMRT3 Val104Ala V104A not reviewed Insufficiently evaluated not reviewed unknown Array 572 7104 0.080518 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DMRT3 Gly356Val G356V not reviewed Insufficiently evaluated not reviewed unknown Array rs16927037 565 10758 0.0525191 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DMRTA1 Thr315Asn T315N not reviewed Insufficiently evaluated not reviewed unknown Array rs61729546 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - DMRTA1 Ala396Ser A396S not reviewed Insufficiently evaluated not reviewed unknown Array rs35310697 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - DMRTA1 Pro504Leu P504L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DMRTA2 Arg397Cys R397C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DMRTA2 Gly166Arg G166R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - DMRTB1 Pro265Ser P265S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - DMRTC2 Pro170Leu P170L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - DMXL1 Glu96Stop E96X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DMXL1 Leu277Ser L277S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - DMXL1 Ser851Asn S851N not reviewed Insufficiently evaluated not reviewed unknown Array rs4895362 523 10742 0.0486874 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMXL1 Asn855Ser N855S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMXL1 Asp1597Asn D1597N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - DMXL1 Val2067Met V2067M not reviewed Insufficiently evaluated not reviewed unknown Array rs9790916 409 10756 0.0380253 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - DMXL1 Thr2107Ser T2107S not reviewed Insufficiently evaluated not reviewed unknown Array rs9791092 405 10756 0.0376534 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - DMXL1 Val2228Leu V2228L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - DMXL2 Met2514Val M2514V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - DMXL2 Ala2310Thr A2310T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - DMXL2 Gln1780His Q1780H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - -1 - 1 N - - DMXL2 Ser1288Pro S1288P not reviewed Insufficiently evaluated not reviewed unknown Array rs12102203 5151 10756 0.478895 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DMXL2 Ser1287Ile S1287I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - DMXL2 Pro956Thr P956T not reviewed Insufficiently evaluated not reviewed unknown Array rs74013274 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DMXL2 Asn903Asp N903D not reviewed Insufficiently evaluated not reviewed unknown Array rs16953073 86 10752 0.00799851 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.249 - - -1 - 2 - 3 - - DMXL2 Ser641Cys S641C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 3 - 1 N - - DMXL2 Thr497Met T497M not reviewed Insufficiently evaluated not reviewed unknown Array rs17524906 2236 10758 0.207845 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DMXL2 Glu144Gln E144Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35097381 118 10754 0.0109727 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.086 - - -2 - 0 N - - DNA2 Phe60Ser F60S not reviewed Insufficiently evaluated not reviewed unknown Array rs1535539 1940 9628 0.201496 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DNAH1 Asp311Asn D311N not reviewed Insufficiently evaluated not reviewed unknown Array rs55931436 142 10200 0.0139216 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH1 Val441Leu V441L not reviewed Insufficiently evaluated not reviewed unknown Array rs13060192 351 10314 0.0340314 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - DNAH1 Glu882Lys E882K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH1 Arg1285Trp R1285W not reviewed Insufficiently evaluated not reviewed unknown Array rs61734640 347 9996 0.0347139 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNAH1 Pro1709Gln P1709Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH1 Ile2226Val I2226V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10556 0.00644183 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH1 Pro3055His P3055H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAH1 Arg3744Cys R3744C not reviewed Insufficiently evaluated not reviewed unknown Array 404 10466 0.0386012 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - DNAH1 Gly3801Asp G3801D not reviewed Insufficiently evaluated not reviewed unknown Array rs12163565 1464 10470 0.139828 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DNAH1 His3832Arg H3832R not reviewed Insufficiently evaluated not reviewed unknown Array rs365048 10094 10138 0.99566 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH10 Arg41Cys R41C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9700 0.000206185 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH10 Ser167Pro S167P not reviewed Insufficiently evaluated not reviewed unknown Array rs11057353 6555 10758 0.609314 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH10 Ile394Asn I394N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNAH10 Ile480Val I480V not reviewed Insufficiently evaluated not reviewed unknown Array rs10846559 7906 10758 0.734895 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH10 Val773Ile V773I not reviewed Insufficiently evaluated not reviewed unknown Array 1202 10758 0.111731 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH10 Val1543Ile V1543I not reviewed Insufficiently evaluated not reviewed unknown Array 144 10008 0.0143885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH10 Leu1631Val L1631V not reviewed Insufficiently evaluated not reviewed unknown Array rs4930729 9255 10086 0.917609 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH10 Thr1724Met T1724M not reviewed Insufficiently evaluated not reviewed unknown Array 878 10250 0.0856585 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 3 - - DNAH10 Arg1764Gln R1764Q not reviewed Insufficiently evaluated not reviewed unknown Array 128 9662 0.0132478 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH10 Thr1986Met T1986M not reviewed Insufficiently evaluated not reviewed unknown Array 286 9662 0.0296005 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH10 Leu2335His L2335H not reviewed Insufficiently evaluated not reviewed unknown Array 366 9858 0.0371272 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH10 Asn2483Ser N2483S not reviewed Insufficiently evaluated not reviewed unknown Array 375 9868 0.0380016 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH10 Thr3400Met T3400M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH10 Asp3513Asn D3513N not reviewed Insufficiently evaluated not reviewed unknown Array rs61740383 554 9624 0.0575644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH10 Val3816Phe V3816F not reviewed Insufficiently evaluated not reviewed unknown Array 575 9916 0.0579871 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH10 Arg4241Cys R4241C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH11 Glu34Stop E34X not reviewed Insufficiently evaluated not reviewed unknown Array rs2285943 3680 8740 0.421053 2 0 4 0 0 2 Y - - - - - - - - - - Y - - - - - Y 10 Y 2 N - - DNAH11 Glu34Val E34V not reviewed Insufficiently evaluated not reviewed unknown Array rs2285944 3695 8752 0.422189 2 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 1 N - - DNAH11 Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DNAH11 Gln639Arg Q639R not reviewed Insufficiently evaluated not reviewed unknown Array rs12670130 1481 9658 0.153344 10 0 11 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 - 1 - - DNAH11 Ser654Cys S654C not reviewed Insufficiently evaluated not reviewed unknown Array rs62441683 1192 9662 0.12337 5 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 - 3 - - DNAH11 Val848Met V848M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10344 0.000193348 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - DNAH11 Glu1015Asp E1015D not reviewed Insufficiently evaluated not reviewed unknown Array 44 10004 0.00439824 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - DNAH11 Val1023Ala V1023A not reviewed Insufficiently evaluated not reviewed unknown Array rs10269582 3517 10040 0.350299 29 0 39 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 - 2 - - DNAH11 Thr1038Ala T1038A not reviewed Insufficiently evaluated not reviewed unknown Array rs10224537 8187 10032 0.816088 53 0 92 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - DNAH11 Ile1538Ser I1538S not reviewed Insufficiently evaluated not reviewed unknown Array rs73682656 51 9670 0.00527404 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - DNAH11 Val1838Ile V1838I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - DNAH11 Ala2047Thr A2047T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - DNAH11 Tyr2055Stop Y2055X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - DNAH11 Gln2438Stop Q2438X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - DNAH11 Ala2453Thr A2453T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - DNAH11 Ile2531Thr I2531T not reviewed Insufficiently evaluated not reviewed unknown Array rs2072220 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Asp2550Asn D2550N not reviewed Insufficiently evaluated not reviewed unknown Array rs2072221 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - DNAH11 Ile2593Thr I2593T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 His2600Tyr H2600Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1109806 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - DNAH11 Pro2834Ser P2834S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Gly3195Ser G3195S not reviewed Insufficiently evaluated not reviewed unknown Array rs6965750 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DNAH11 Arg3474His R3474H not reviewed Insufficiently evaluated not reviewed unknown Array rs2214326 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - DNAH11 Ser3715Ile S3715I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - DNAH11 Leu3765Pro L3765P not reviewed Insufficiently evaluated not reviewed unknown Array rs17145720 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - DNAH11 Cys3774Arg C3774R not reviewed Insufficiently evaluated not reviewed unknown Array rs4722067 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - DNAH11 Ala3783Thr A3783T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - DNAH11 His4172Arg H4172R not reviewed Insufficiently evaluated not reviewed unknown Array rs6461613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - DNAH11 Gly4212Cys G4212C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - DNAH11 Gly4322Asp G4322D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - DNAH11 Leu4384Ile L4384I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - DNAH12 Gly2893Ser G2893S not reviewed Insufficiently evaluated not reviewed unknown Array rs4060726 1914 3234 0.591837 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNAH12 Thr1763Ile T1763I not reviewed Insufficiently evaluated not reviewed unknown Array rs4681982 1540 3176 0.484887 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH12 Lys1754Asn K1754N not reviewed Insufficiently evaluated not reviewed unknown Array rs17793014 1181 3176 0.371851 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH12 Tyr1704His Y1704H not reviewed Insufficiently evaluated not reviewed unknown Array rs4462937 701 3234 0.216759 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH12 Asp1549Asn D1549N not reviewed Insufficiently evaluated not reviewed unknown Array rs6773904 1375 3234 0.42517 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH12 Asn1308Ser N1308S not reviewed Insufficiently evaluated not reviewed unknown Array 153 3234 0.0473098 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH12 Ile816Met I816M not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH12 Thr467Pro T467P not reviewed Insufficiently evaluated not reviewed unknown Array rs6806444 2181 3234 0.674397 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DNAH12 Asp224Glu D224E not reviewed Insufficiently evaluated not reviewed unknown Array rs6445902 3103 10752 0.288597 27 0 37 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DNAH12 Leu183Ile L183I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAH12 Ser139Asn S139N not reviewed Insufficiently evaluated not reviewed unknown Array rs6778837 200 10758 0.0185908 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH12 Val32Ala V32A not reviewed Insufficiently evaluated not reviewed unknown Array rs9311651 2886 10758 0.268265 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNAH14 Glu19Stop E19X not reviewed Insufficiently evaluated not reviewed unknown Array rs61745064 104 9452 0.011003 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DNAH14 Thr43Ser T43S not reviewed Insufficiently evaluated not reviewed unknown Array rs41267347 530 9432 0.0561917 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DNAH14 Lys162Met K162M not reviewed Insufficiently evaluated not reviewed unknown Array 56 9356 0.00598546 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH14 Ile360Ser I360S not reviewed Insufficiently evaluated not reviewed unknown Array rs74149431 8 3234 0.00247372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAH14 Phe405Leu F405L not reviewed Insufficiently evaluated not reviewed unknown Array 200 3230 0.0619195 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH14 Ile651Val I651V not reviewed Insufficiently evaluated not reviewed unknown Array 52 3234 0.0160792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH14 Leu828Val L828V not reviewed Insufficiently evaluated not reviewed unknown Array rs3105559 2812 3230 0.870588 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH14 His861Arg H861R not reviewed Insufficiently evaluated not reviewed unknown Array 44 3232 0.0136139 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH14 Lys1010Arg K1010R not reviewed Insufficiently evaluated not reviewed unknown Array rs3128651 2816 3234 0.870748 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DNAH14 Arg1011Gln R1011Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3128652 2816 3234 0.870748 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH14 Asn1099Tyr N1099Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3128655 2599 3234 0.803649 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DNAH14 Met1110Ile M1110I not reviewed Insufficiently evaluated not reviewed unknown Array rs3128658 2802 3220 0.870186 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH14 Glu1272Ala E1272A not reviewed Insufficiently evaluated not reviewed unknown Array rs3105571 130 3228 0.0402726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH14 Thr1850Met T1850M not reviewed Insufficiently evaluated not reviewed unknown Array rs61851487 391 3234 0.120903 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNAH14 Gly2341Glu G2341E not reviewed Insufficiently evaluated not reviewed unknown Array 55 3234 0.0170068 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH14 Asn2435Ser N2435S not reviewed Insufficiently evaluated not reviewed unknown Array 172 3232 0.0532178 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH14 Arg2804Cys R2804C not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH14 Asn2991Asp N2991D not reviewed Insufficiently evaluated not reviewed unknown Array rs10495237 276 3234 0.0853432 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH14 Asp3393Glu D3393E not reviewed Insufficiently evaluated not reviewed unknown Array rs3856145 1552 3234 0.479901 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DNAH14 Leu3446Phe L3446F not reviewed Insufficiently evaluated not reviewed unknown Array 279 3234 0.0862709 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH14 Lys3474Glu K3474E not reviewed Insufficiently evaluated not reviewed unknown Array rs6667999 1551 3234 0.479592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH14 Met3533Val M3533V not reviewed Insufficiently evaluated not reviewed unknown Array 48 3234 0.0148423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH14 Val3627Ala V3627A not reviewed Insufficiently evaluated not reviewed unknown Array rs7527925 1550 3226 0.480471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNAH14 Arg3670Lys R3670K not reviewed Insufficiently evaluated not reviewed unknown Array rs7535953 1544 3222 0.479205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DNAH14 Gly3678Ser G3678S not reviewed Insufficiently evaluated not reviewed unknown Array 277 3234 0.0856524 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNAH14 Asn3969Lys N3969K not reviewed Insufficiently evaluated not reviewed unknown Array rs12737248 1610 3234 0.497835 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH14 Asn3995Ser N3995S not reviewed Insufficiently evaluated not reviewed unknown Array 37 3234 0.0114409 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH14 Leu4096Pro L4096P not reviewed Insufficiently evaluated not reviewed unknown Array rs3856154 1913 3234 0.591528 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DNAH14 Phe4244Cys F4244C not reviewed Insufficiently evaluated not reviewed unknown Array rs950210 1842 3234 0.569573 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DNAH2 Tyr516His Y516H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - DNAH2 Met961Thr M961T not reviewed Insufficiently evaluated not reviewed unknown Array rs73232333 320 10758 0.0297453 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH2 Glu1213Lys E1213K not reviewed Insufficiently evaluated not reviewed unknown Array rs35788701 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - DNAH2 Glu1326Gly E1326G not reviewed Insufficiently evaluated not reviewed unknown Array rs11868946 321 10758 0.0298383 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - DNAH2 Pro1500Leu P1500L not reviewed Insufficiently evaluated not reviewed unknown Array rs73232344 118 10758 0.0109686 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DNAH2 Ser1736Phe S1736F not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - DNAH2 Pro1995Leu P1995L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.49 - - 7 Y 1 N - - DNAH2 Ser2076Pro S2076P not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - DNAH2 Val2761Met V2761M not reviewed Insufficiently evaluated not reviewed unknown Array 243 10758 0.0225878 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - DNAH2 Thr3600Ile T3600I not reviewed Insufficiently evaluated not reviewed unknown Array rs7213894 7004 10756 0.651171 46 0 70 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH2 Arg3604Gln R3604Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DNAH2 Arg3651His R3651H not reviewed Insufficiently evaluated not reviewed unknown Array rs57926692 228 10758 0.0211935 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - DNAH2 Phe4232Leu F4232L not reviewed Insufficiently evaluated not reviewed unknown Array rs57985356 666 10758 0.0619074 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.056 - - 0 - 0 N - - DNAH2 Ala4252Ser A4252S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH2 Arg4255Gln R4255Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745181 588 10758 0.054657 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 1 N - - DNAH2 Val4357Asp V4357D not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.935 - - 8 Y 2 N - - DNAH3 Arg3744Trp R3744W not reviewed Insufficiently evaluated not reviewed unknown Array rs2301620 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - DNAH3 Arg3645Cys R3645C not reviewed Insufficiently evaluated not reviewed unknown Array rs12924551 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - DNAH3 Leu3639Ile L3639I not reviewed Insufficiently evaluated not reviewed unknown Array rs34771199 4 126 0.031746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 1 - 1 - - DNAH3 Tyr3615Cys Y3615C not reviewed Insufficiently evaluated not reviewed unknown Array rs34051490 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - DNAH3 Arg3489Gln R3489Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - DNAH3 Tyr3450Cys Y3450C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744658 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - DNAH3 His3234Arg H3234R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735055 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH3 Asn3193Ser N3193S not reviewed Insufficiently evaluated not reviewed unknown Array rs59078097 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DNAH3 Lys2949Thr K2949T not reviewed Insufficiently evaluated not reviewed unknown Array rs33928718 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 1 N - - DNAH3 Ile2804Val I2804V not reviewed Insufficiently evaluated not reviewed unknown Array rs12929546 20 128 0.15625 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DNAH3 Ile2782Met I2782M not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - DNAH3 Gln1839Lys Q1839K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.773 - - -2 - 1 N - - DNAH3 Ala1780Val A1780V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 2 - 1 N - - DNAH3 Thr1752Met T1752M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 2 - - DNAH3 Tyr1706Ser Y1706S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 5 Y 2 N - - DNAH3 Val1583Ile V1583I not reviewed Insufficiently evaluated not reviewed unknown Array rs16970832 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 3 - 2 - - DNAH3 Val595Ile V595I not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - DNAH3 Arg545Trp R545W not reviewed Insufficiently evaluated not reviewed unknown Array rs16970910 8 122 0.0655738 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.715 - - 7 Y 0 N - - DNAH3 Gln214Lys Q214K not reviewed Insufficiently evaluated not reviewed unknown Array rs72780891 14 124 0.112903 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.205 - - -2 - 0 N - - DNAH3 Ala41Thr A41T not reviewed Insufficiently evaluated not reviewed unknown Array rs58508496 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH5 Ala4527Pro A4527P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y 2 - 2 N - - DNAH5 Ile4450Val I4450V not reviewed Insufficiently evaluated not reviewed unknown Array rs3734110 5682 10758 0.528165 44 0 63 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - DNAH5 Thr4220Ala T4220A not reviewed Insufficiently evaluated not reviewed unknown Array rs2277046 653 10758 0.060699 13 0 16 0 0 - - - - - - - - - - - - Y - - - 0.959 Y Y 1 - 3 N - - DNAH5 Ala4134Val A4134V not reviewed Insufficiently evaluated not reviewed unknown Array rs30168 4957 10758 0.460773 38 0 51 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - DNAH5 Ile4116Val I4116V not reviewed Insufficiently evaluated not reviewed unknown Array rs34920399 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -4 - 2 N - - DNAH5 Thr3791Ile T3791I not reviewed Insufficiently evaluated not reviewed unknown Array rs17263496 990 10758 0.0920245 11 0 10 0 0 5 Y - - - - - - - - - - Y - - - 0.995 Y Y 3 - 3 N - - DNAH5 Gln3506His Q3506H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y -1 - 4 N - - DNAH5 Leu2862Phe L2862F not reviewed Insufficiently evaluated not reviewed unknown Array rs10513155 2663 10758 0.247537 25 0 28 0 0 3 Y - - - - - - - - - - Y - - - 0.006 Y Y 0 - 2 N - - DNAH5 Gln2463Arg Q2463R not reviewed Insufficiently evaluated not reviewed unknown Array rs10078391 2192 10758 0.203755 20 0 24 0 0 3 Y - - - - - - - - - - Y - - - 0.99 Y Y 0 - 3 N - - DNAH5 Thr2066Ile T2066I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - DNAH5 Arg1245His R1245H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - DNAH5 Arg1219His R1219H not reviewed Insufficiently evaluated not reviewed unknown Array rs73055857 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 1 - 2 N - - DNAH5 Ile766Leu I766L not reviewed Insufficiently evaluated not reviewed unknown Array rs4701997 5568 10758 0.517568 27 0 38 0 0 1 Y - - - - - - - - - - Y - - - 0.026 Y Y -2 - 2 N - - DNAH5 Thr558Ala T558A not reviewed Insufficiently evaluated not reviewed unknown Array rs1530498 3547 10742 0.330199 32 0 44 0 0 1 Y - - - - - - - - - - Y - - - 0.791 Y Y 1 - 2 N - - DNAH5 Thr544Ile T544I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DNAH5 Asn298Lys N298K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.712 Y Y 1 - 3 N - - DNAH5 Gly24Glu G24E not reviewed Insufficiently evaluated not reviewed unknown Array rs1530496 4223 10758 0.392545 37 0 50 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - DNAH5 His12Gln H12Q not reviewed Insufficiently evaluated not reviewed unknown Array rs339445 9941 10758 0.924057 55 0 97 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - DNAH6 His55Tyr H55Y not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - DNAH6 Val141Met V141M not reviewed Insufficiently evaluated not reviewed unknown Array rs4832089 3002 3234 0.928262 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH6 Glu1112Gln E1112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - DNAH6 Gly1803Arg G1803R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DNAH6 Glu2537Gln E2537Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 3234 0.00680272 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - -2 - 1 N - - DNAH6 Lys2859Arg K2859R not reviewed Insufficiently evaluated not reviewed unknown Array 101 3234 0.0312307 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - DNAH7 Val3867Asp V3867D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH7 Leu3319Pro L3319P not reviewed Insufficiently evaluated not reviewed unknown Array rs13411834 9385 9732 0.964344 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DNAH7 Asp3112Gly D3112G not reviewed Insufficiently evaluated not reviewed unknown Array rs57935194 29 9574 0.00302904 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - DNAH7 Ile2809Val I2809V not reviewed Insufficiently evaluated not reviewed unknown Array rs16841018 1405 9434 0.148929 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH7 Asp2264Tyr D2264Y not reviewed Insufficiently evaluated not reviewed unknown Array 27 9842 0.00274334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - DNAH7 Arg1886Gln R1886Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9684 0.000103263 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - DNAH7 Ile1854Val I1854V not reviewed Insufficiently evaluated not reviewed unknown Array rs62623593 602 9576 0.0628655 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH7 Ile1131Thr I1131T not reviewed Insufficiently evaluated not reviewed unknown Array 29 9670 0.00299897 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - DNAH7 Ile1020Thr I1020T not reviewed Insufficiently evaluated not reviewed unknown Array rs62623378 849 9698 0.0875438 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH7 Lys825Glu K825E not reviewed Insufficiently evaluated not reviewed unknown Array rs6719500 1724 9706 0.177622 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.208 - - 0 - 0 N - - DNAH7 Ser632Cys S632C not reviewed Insufficiently evaluated not reviewed unknown Array rs73042525 681 9674 0.0703949 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - DNAH7 Arg545Cys R545C not reviewed Insufficiently evaluated not reviewed unknown Array rs10931715 4954 9440 0.524788 31 0 44 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - DNAH7 Asp524Gly D524G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - DNAH7 Ser438Asn S438N not reviewed Insufficiently evaluated not reviewed unknown Array rs16843720 228 9562 0.0238444 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - DNAH7 Ile315Val I315V not reviewed Insufficiently evaluated not reviewed unknown Array rs17838596 365 9498 0.0384291 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DNAH7 Lys159Glu K159E not reviewed Insufficiently evaluated not reviewed unknown Array rs62203391 511 9536 0.0535864 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - DNAH7 Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array 26 9574 0.00271569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH7 Gln99Glu Q99E not reviewed Insufficiently evaluated not reviewed unknown Array rs73987681 323 9508 0.0339714 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.741 - - -2 - 1 N - - DNAH7 Lys7Ile K7I not reviewed Insufficiently evaluated not reviewed unknown Array 94 9442 0.00995552 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 3 - 1 - - DNAH8 Asn71Ser N71S not reviewed Insufficiently evaluated not reviewed unknown Array rs6935293 399 10758 0.0370887 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - DNAH8 Tyr300His Y300H not reviewed Insufficiently evaluated not reviewed unknown Array rs61748600 1324 10756 0.123094 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.431 - - -1 - 0 N - - DNAH8 Ala442Thr A442T not reviewed Insufficiently evaluated not reviewed unknown Array rs61748601 1325 10754 0.12321 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH8 Gly473Arg G473R not reviewed Insufficiently evaluated not reviewed unknown Array rs1738254 802 10758 0.0745492 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DNAH8 Ile573Val I573V not reviewed Insufficiently evaluated not reviewed unknown Array rs3823430 1297 10758 0.120561 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH8 Ala727Thr A727T not reviewed Insufficiently evaluated not reviewed unknown Array rs1678674 567 10758 0.052705 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - DNAH8 Gly807Glu G807E not reviewed Insufficiently evaluated not reviewed unknown Array rs874808 4319 10758 0.401469 44 0 60 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DNAH8 Glu1202Lys E1202K not reviewed Insufficiently evaluated not reviewed unknown Array rs9357283 1478 10758 0.137386 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH8 Glu1266Asp E1266D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - DNAH8 Ala2174Ser A2174S not reviewed Insufficiently evaluated not reviewed unknown Array rs61758417 11 10758 0.00102249 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - DNAH8 Thr2444Asn T2444N not reviewed Insufficiently evaluated not reviewed unknown Array rs862432 815 10742 0.0758704 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.838 - - 1 - 0 N - - DNAH8 Ala3098Thr A3098T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - DNAH8 Thr4106Met T4106M not reviewed Insufficiently evaluated not reviewed unknown Array rs1537232 1281 10758 0.119074 21 0 26 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - DNAH8 Ile4271Val I4271V not reviewed Insufficiently evaluated not reviewed unknown Array rs10484847 1800 10758 0.167317 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH9 Arg151His R151H not reviewed Insufficiently evaluated not reviewed unknown Array 364 10758 0.0338353 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH9 Gln445Arg Q445R not reviewed Insufficiently evaluated not reviewed unknown Array rs9892256 10668 10758 0.991634 54 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH9 Met604Val M604V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740059 228 10758 0.0211935 4 0 5 0 0 1 Y - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - DNAH9 Arg842Trp R842W not reviewed Insufficiently evaluated not reviewed unknown Array rs16945138 553 10758 0.0514036 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 1 N - - DNAH9 Thr1221Ala T1221A not reviewed Insufficiently evaluated not reviewed unknown Array rs9916482 207 10758 0.0192415 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH9 Lys1950Arg K1950R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739481 129 10758 0.0119911 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - DNAH9 Asn2195Ser N2195S not reviewed Insufficiently evaluated not reviewed unknown Array rs3744581 2288 10758 0.212679 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - DNAH9 Gln2438His Q2438H not reviewed Insufficiently evaluated not reviewed unknown Array rs2277658 938 10758 0.0871909 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH9 Val2505Leu V2505L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744697 1146 10758 0.106525 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - DNAH9 Lys2961Arg K2961R not reviewed Insufficiently evaluated not reviewed unknown Array rs11870983 618 10758 0.0574456 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - DNAH9 Lys2968Asn K2968N not reviewed Insufficiently evaluated not reviewed unknown Array rs11871037 619 10758 0.0575386 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.176 - - 1 - 0 N - - DNAH9 Arg3726Gln R3726Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16945431 252 10758 0.0234244 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 4 - - DNAH9 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - DNAH9 Asp348Asn D348N not reviewed Insufficiently evaluated not reviewed unknown Array rs17612861 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH9 Asp4036Asn D4036N not reviewed Insufficiently evaluated not reviewed unknown Array rs17612861 2660 10758 0.247258 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - DNAH9 Met4374Ile M4374I not reviewed Insufficiently evaluated not reviewed unknown Array rs1990236 1727 10758 0.160532 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.659 - - -1 - 0 N - - DNAH9 Met686Ile M686I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAI1 Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array rs16931549 299 10758 0.0277933 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DNAI1 Thr219Lys T219K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DNAI1 Ser222Pro S222P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.918 Y Y 3 - 4 N - - DNAI1 Val335Ile V335I not reviewed Insufficiently evaluated not reviewed unknown Array rs11793196 2253 10758 0.209426 18 0 21 0 0 - - - - - - - - - - - - Y - - - 0.467 Y Y -4 - 3 - 4 - - DNAI1 Val487Gly V487G not reviewed Insufficiently evaluated not reviewed unknown Array rs11999454 234 10758 0.0217513 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DNAI1 Thr535Asn T535N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.543 Y Y 1 - 3 N - - DNAI2 Asp197Val D197V not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y 8 Y 1 N - - DNAI2 Trp386Cys W386C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 7 Y 3 N - - DNAI2 Val495Ile V495I not reviewed Insufficiently evaluated not reviewed unknown Array rs28725418 1977 10758 0.18377 23 0 31 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - DNAI2 Ala558Thr A558T not reviewed Insufficiently evaluated not reviewed unknown Array rs1979370 8248 10758 0.766685 47 0 76 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 - 1 - - DNAJA3 Asn75Tyr N75Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4785963 7563 10758 0.703012 49 0 72 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DNAJA4 Leu259Ile L259I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJA4 Leu286Ile L286I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJA4 Leu315Ile L315I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJA4 Asp357Gly D357G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAJA4 Asp384Gly D384G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAJA4 Asp413Gly D413G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAJB1 Met136Ile M136I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - DNAJB11 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs8147 2883 10758 0.267987 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.642 - - -4 - 0 N - - DNAJB13 Met309Ile M309I not reviewed Insufficiently evaluated not reviewed unknown Array rs72982975 2601 10758 0.241774 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.291 - - -1 - 0 N - - DNAJB14 His141Arg H141R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741259 451 10756 0.0419301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - DNAJB6 Ser190Stop S190X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DNAJB8 Met153Leu M153L not reviewed Insufficiently evaluated not reviewed unknown Array rs35948511 236 10758 0.0219372 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DNAJB9 Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array rs17155937 344 10758 0.0319762 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - DNAJC10 Asp76Asn D76N not reviewed Insufficiently evaluated not reviewed unknown Array rs6729801 4640 10758 0.431307 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - DNAJC10 Leu347Ile L347I not reviewed Insufficiently evaluated not reviewed unknown Array rs13414223 138 10662 0.0129432 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.85 - - -2 - 2 N - - DNAJC10 His646Gln H646Q not reviewed Insufficiently evaluated not reviewed unknown Array rs288334 7517 10756 0.698866 54 0 83 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAJC11 Thr290Ser T290S not reviewed Insufficiently evaluated not reviewed unknown Array rs200454 2308 10758 0.214538 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DNAJC11 Val267Met V267M not reviewed Insufficiently evaluated not reviewed unknown Array rs12137794 605 10758 0.0562372 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAJC12 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAJC13 Asn145Thr N145T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAJC13 Ala1421Val A1421V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748102 222 10758 0.0206358 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJC13 Leu1460Phe L1460F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAJC13 Ala1463Ser A1463S not reviewed Insufficiently evaluated not reviewed unknown Array rs3762672 6670 10758 0.620004 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAJC13 Pro1515Ser P1515S not reviewed Insufficiently evaluated not reviewed unknown Array rs55825559 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - DNAJC13 Arg1516Cys R1516C not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAJC15 Arg35Gly R35G not reviewed Insufficiently evaluated not reviewed unknown Array rs11617079 3186 10756 0.296207 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DNAJC15 Lys74Thr K74T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733777 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - DNAJC17 Asp155Asn D155N not reviewed Insufficiently evaluated not reviewed unknown Array rs73398528 671 10758 0.0623722 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAJC18 Ala101Thr A101T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.775 - - 1 - 1 N - - DNAJC21 Arg274Gln R274Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAJC21 Glu433Lys E433K not reviewed Insufficiently evaluated not reviewed unknown Array rs34908091 40 10756 0.00371885 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 1 - 2 - - DNAJC21 Glu478Lys E478K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - DNAJC21 Asn516Ser N516S not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 1 - - DNAJC21 Asn561Ser N561S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DNAJC25 Val33Met V33M not reviewed Insufficiently evaluated not reviewed unknown Array 396 6036 0.0656064 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAJC25-GNG10 Val33Met V33M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAJC3 Glu354Gln E354Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59892430 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - DNAJC30 Gly34Arg G34R not reviewed Insufficiently evaluated not reviewed unknown Array rs1128349 3937 10706 0.367738 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DNAJC30 Leu12Val L12V not reviewed Insufficiently evaluated not reviewed unknown Array rs28494095 1005 10394 0.0966904 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - DNAJC5G His51Arg H51R not reviewed Insufficiently evaluated not reviewed unknown Array rs13414011 622 10758 0.0578174 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DNAJC6 Leu429Phe L429F not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.448 - - 0 - 1 N - - DNAJC6 Ser636Ala S636A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAJC6 Ser671Asn S671N not reviewed Insufficiently evaluated not reviewed unknown Array rs4915691 2009 10758 0.186745 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.121 - - 0 - 0 N - - DNAJC8 Arg190Gln R190Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - DNALI1 Ala87Val A87V not reviewed Insufficiently evaluated not reviewed unknown Array rs11749 2175 10758 0.202175 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNASE1 Arg244Gln R244Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1053874 4877 10758 0.453337 45 0 66 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - DNASE1L3 Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array rs35677470 572 10758 0.0531697 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - DNASE1L3 Asn96Lys N96K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10756 0.0026032 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 1 - 3 - - DNASE1L3 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array 117 10756 0.0108776 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 3 - - DNASE2 His204Arg H204R not reviewed Insufficiently evaluated not reviewed unknown Array rs16978744 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.818 - - 1 - 2 - 4 - - DNASE2B Gln3His Q3H not reviewed Insufficiently evaluated not reviewed unknown Array rs3738573 2981 10304 0.289305 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNASE2B Arg51Lys R51K not reviewed Insufficiently evaluated not reviewed unknown Array rs3754274 2047 9558 0.214166 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DNASE2B Ser72Thr S72T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DND1 Thr349Ser T349S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DND1 Glu334Lys E334K not reviewed Insufficiently evaluated not reviewed unknown Array 291 10340 0.0281431 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - DND1 Pro76Leu P76L not reviewed Insufficiently evaluated not reviewed unknown Array 1311 10698 0.122546 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - DND1 Asp68Glu D68E not reviewed Insufficiently evaluated not reviewed unknown Array 2331 10604 0.219823 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 1 N - - DNER Thr259Ser T259S not reviewed Insufficiently evaluated not reviewed unknown Array rs72987941 185 10758 0.0171965 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - -2 - 1 N - - DNHD1 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11604149 5044 10758 0.46886 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - DNHD1 Val240Glu V240E not reviewed Insufficiently evaluated not reviewed unknown Array rs2555158 6295 10758 0.585146 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DNHD1 Gln279Pro Q279P not reviewed Insufficiently evaluated not reviewed unknown Array rs11605196 1637 10758 0.152166 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 1 N - - DNHD1 Tyr297Cys Y297C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - DNHD1 Asp317Asn D317N not reviewed Insufficiently evaluated not reviewed unknown Array rs2555152 455 10758 0.0422941 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - DNHD1 His418Tyr H418Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4758423 2918 10758 0.27124 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.916 - - -1 - 1 N - - DNHD1 Gln560Glu Q560E not reviewed Insufficiently evaluated not reviewed unknown Array rs11603869 2037 10758 0.189347 18 0 17 0 0 - - - - - - - - - - - - - - - - 0.952 - - -2 - 1 N - - DNHD1 Asp622Ala D622A not reviewed Insufficiently evaluated not reviewed unknown Array rs4633449 2185 3234 0.675634 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DNHD1 Asn694Ser N694S not reviewed Insufficiently evaluated not reviewed unknown Array rs7480644 2179 3234 0.673779 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNHD1 Gln697Arg Q697R not reviewed Insufficiently evaluated not reviewed unknown Array rs2344828 2188 3234 0.676562 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNHD1 Gly769Arg G769R not reviewed Insufficiently evaluated not reviewed unknown Array rs2344829 2148 3234 0.664193 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DNHD1 Leu846Met L846M not reviewed Insufficiently evaluated not reviewed unknown Array 945 3234 0.292208 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DNHD1 Asp987Gly D987G not reviewed Insufficiently evaluated not reviewed unknown Array rs7103810 2740 3234 0.847248 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DNHD1 Lys1896Asn K1896N not reviewed Insufficiently evaluated not reviewed unknown Array rs16915277 160 3234 0.0494743 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNHD1 Ala1909Pro A1909P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNHD1 Ala1909Asp A1909D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNHD1 Met2015Thr M2015T not reviewed Insufficiently evaluated not reviewed unknown Array 583 3232 0.180384 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNHD1 Phe2041Leu F2041L not reviewed Insufficiently evaluated not reviewed unknown Array rs11825154 159 3234 0.0491651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNHD1 Val2374Met V2374M not reviewed Insufficiently evaluated not reviewed unknown Array rs11606889 578 3234 0.178726 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNHD1 His2861Asn H2861N not reviewed Insufficiently evaluated not reviewed unknown Array 1054 3234 0.325912 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNHD1 His2861Tyr H2861Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNHD1 Leu3299Met L3299M not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DNHD1 Asp3313Asn D3313N not reviewed Insufficiently evaluated not reviewed unknown Array rs11040923 1327 3234 0.410328 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNHD1 Leu3745Arg L3745R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10026 9.974e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNHD1 Arg3830His R3830H not reviewed Insufficiently evaluated not reviewed unknown Array 2961 10134 0.292185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNLZ Ser178Thr S178T not reviewed Insufficiently evaluated not reviewed unknown Array rs3812552 789 10684 0.0738487 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.75 - - -2 - 0 N - - DNLZ Pro169His P169H not reviewed Insufficiently evaluated not reviewed unknown Array rs3812553 332 10698 0.0310338 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.727 - - 5 Y 1 N - - DNLZ Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array rs3812554 765 10692 0.0715488 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNM3 His795Pro H795P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNM3 His799Pro H799P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNMBP Cys1413Trp C1413W not reviewed Insufficiently evaluated not reviewed unknown Array rs11190305 3358 10758 0.31214 28 0 29 0 0 - - - - - - - - - - - - - - - - 0.566 - - 7 Y 0 N - - DNMBP Glu265Lys E265K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - DNMT1 Ile311Val I311V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228612 20 128 0.15625 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNMT1 Ile327Val I327V not reviewed Insufficiently evaluated not reviewed unknown Array 943 10758 0.0876557 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNMT1 Glu274Lys E274K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - DNMT1 Glu290Lys E290K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNMT1 Leu258Arg L258R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNMT1 Leu274Arg L274R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNMT1 His97Arg H97R not reviewed Insufficiently evaluated not reviewed unknown Array rs16999593 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - DNMT3L Arg278Gly R278G not reviewed Insufficiently evaluated not reviewed unknown Array rs7354779 2682 10758 0.249303 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.955 - - 6 Y 1 N - - DNMT3L Arg271Gln R271Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 3 - 7 - - DNPEP Arg331Gln R331Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNPEP Val258Ala V258A not reviewed Insufficiently evaluated not reviewed unknown Array rs907679 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNPEP Ile171Val I171V not reviewed Insufficiently evaluated not reviewed unknown Array rs6742404 306 10562 0.0289718 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNPEP Asn50His N50H not reviewed Insufficiently evaluated not reviewed unknown Array rs11539909 204 9922 0.0205604 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNTT Arg112Gly R112G not reviewed Insufficiently evaluated not reviewed unknown Array rs6584066 10649 10758 0.989868 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DNTTIP2 Gly477Glu G477E not reviewed Insufficiently evaluated not reviewed unknown Array rs41292661 208 9982 0.0208375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 1 - 1 - - DNTTIP2 Glu309Asp E309D not reviewed Insufficiently evaluated not reviewed unknown Array rs3747965 2619 9532 0.274759 23 0 31 0 0 - - - - - - - - - - - - - - - - 0.426 - - -2 - 0 N - - DOC2A Gly48Ser G48S not reviewed Insufficiently evaluated not reviewed unknown Array rs1140239 3120 10312 0.30256 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - DOCK1 Asn1396Thr N1396T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9714 0.000205888 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - DOCK1 Ala1793Thr A1793T not reviewed Insufficiently evaluated not reviewed unknown Array rs869801 2319 10020 0.231437 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - DOCK1 Ala1857Thr A1857T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229603 9056 10336 0.876161 53 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DOCK10 Ile1252Met I1252M not reviewed Insufficiently evaluated not reviewed unknown Array rs4674941 2553 9608 0.265716 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DOCK11 Ile813Phe I813F not reviewed Insufficiently evaluated not reviewed unknown Array rs16995229 694 8760 0.0792237 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.569 - - 2 - 0 N - - DOCK2 Leu880Met L880M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - DOCK2 Asp1775Gly D1775G not reviewed Insufficiently evaluated not reviewed unknown Array rs58570833 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 4 Y 0 N - - DOCK3 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK4 Val1914Ile V1914I not reviewed Insufficiently evaluated not reviewed unknown Array rs12705795 503 10128 0.0496643 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DOCK4 Phe1580Leu F1580L not reviewed Insufficiently evaluated not reviewed unknown Array rs3757651 3 9762 0.000307314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - DOCK4 Arg853His R853H not reviewed Insufficiently evaluated not reviewed unknown Array rs2074130 6 9922 0.000604716 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - DOCK4 Asn535Asp N535D not reviewed Insufficiently evaluated not reviewed unknown Array 28 9446 0.00296422 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - DOCK4 Val21Ile V21I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DOCK5 Gln250Arg Q250R not reviewed Insufficiently evaluated not reviewed unknown Array rs17053341 428 10758 0.0397843 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - DOCK5 Gln1023Arg Q1023R not reviewed Insufficiently evaluated not reviewed unknown Array rs2271111 2788 10758 0.259156 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 1 N - - DOCK5 Lys1285Arg K1285R not reviewed Insufficiently evaluated not reviewed unknown Array rs2659585 10698 10758 0.994423 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DOCK5 Ala1749Glu A1749E not reviewed Insufficiently evaluated not reviewed unknown Array rs34067851 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOCK6 Ala1442Thr A1442T not reviewed Insufficiently evaluated not reviewed unknown Array rs34243815 551 10054 0.0548041 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 3 - - DOCK6 Arg1305Cys R1305C not reviewed Insufficiently evaluated not reviewed unknown Array 62 9776 0.00634206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOCK6 Thr599Ile T599I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOCK6 Pro555Leu P555L not reviewed Insufficiently evaluated not reviewed unknown Array rs12609039 536 10110 0.0530168 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DOCK6 Glu356Asp E356D not reviewed Insufficiently evaluated not reviewed unknown Array rs73925150 17 10500 0.00161905 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DOCK6 Pro250Leu P250L not reviewed Insufficiently evaluated not reviewed unknown Array rs12978266 5440 9856 0.551948 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DOCK7 Thr1281Met T1281M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK7 Ile824Thr I824T not reviewed Insufficiently evaluated not reviewed unknown Array rs35400360 158 10758 0.0146867 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.103 - - 3 - 1 - 3 - - DOCK7 Lys487Arg K487R not reviewed Insufficiently evaluated not reviewed unknown Array rs72913293 131 10758 0.012177 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - DOCK7 Met181Val M181V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743961 416 10726 0.0387843 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - DOCK8 Ala22Val A22V not reviewed Insufficiently evaluated not reviewed unknown Array rs506121 1024 3234 0.316636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - DOCK8 Asp63Asn D63N not reviewed Insufficiently evaluated not reviewed unknown Array 1373 10758 0.127626 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 1 N - - DOCK8 Pro97Thr P97T not reviewed Insufficiently evaluated not reviewed unknown Array rs529208 5002 10758 0.464956 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 1 N - - DOCK8 Pro206Leu P206L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - DOCK8 Asn413Ser N413S not reviewed Insufficiently evaluated not reviewed unknown Array rs10970979 2985 10758 0.277468 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - DOCK8 Ala597Val A597V not reviewed Insufficiently evaluated not reviewed unknown Array 808 10758 0.0751069 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 1 N - - DOCK8 Asn1070Asp N1070D not reviewed Insufficiently evaluated not reviewed unknown Array 398 10756 0.0370026 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - -1 - 0 N - - DOCK8 Ser1077Asn S1077N not reviewed Insufficiently evaluated not reviewed unknown Array 633 10758 0.0588399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DOCK8 Ala1970Pro A1970P not reviewed Insufficiently evaluated not reviewed unknown Array 815 10758 0.0757576 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 1 N - - DOCK9 Arg1994His R1994H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK9 Arg1995His R1995H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK9 His1862Pro H1862P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DOCK9 His1863Pro H1863P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DOCK9 Arg18Trp R18W not reviewed Insufficiently evaluated not reviewed unknown Array rs117633128 431 6206 0.0694489 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - DOK2 Arg266Trp R266W not reviewed Insufficiently evaluated not reviewed unknown Array 67 10756 0.00622908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - DOK2 Phe202Leu F202L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - DOK3 Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array rs28376231 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOK3 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array rs28376231 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOK3 Ala290Asp A290D not reviewed Insufficiently evaluated not reviewed unknown Array rs73349185 30 10628 0.00282273 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.895 - - 5 Y 2 N - - DOK3 Gly22Arg G22R not reviewed Insufficiently evaluated not reviewed unknown Array rs41275297 288 10754 0.0267807 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 3 - 2 - - DOK3 Arg12Pro R12P not reviewed Insufficiently evaluated not reviewed unknown Array rs3749728 1028 10752 0.0956101 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DOK4 Glu74Asp E74D not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - DOK6 Met255Arg M255R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 4 Y 1 N - - DOK7 Ser45Leu S45L pathogenic High clinical importance, Uncertain pathogenic recessive Array rs62272670 58 10384 0.00558552 1 0 1 2 2 3 Y - - 0 Y 0 Y 3 Y 4 Y Y - - - 0.302 Y Y 6 Y Congenital Myasthenic Syndromes 2 198 0 50 INF 4 - 2 2 0 This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes (out of a screen of 200). Other mutations in this gene are associated with the syndrome, but there are insufficient controls to establish this variant in particular as significant. DOK7 Leu108Pro L108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 7 Y 4 N - - DOK7 Gln296Arg Q296R not reviewed Insufficiently evaluated not reviewed unknown Array rs6811423 19 118 0.161017 13 0 17 0 0 1 Y - - - - - - - - - - Y - - - 0.985 Y Y 0 - 4 - 2 - - DOK7 Ala302Pro A302P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 2 - 3 - 1 - - DOK7 Pro415Ser P415S not reviewed Insufficiently evaluated not reviewed unknown Array rs16844464 675 10716 0.0629899 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 3 - 3 N - - DOK7 Arg451Trp R451W not reviewed Insufficiently evaluated not reviewed unknown Array rs16844470 149 10334 0.0144184 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 7 Y 4 N - - DOK7 Gly461Asp G461D not reviewed Insufficiently evaluated not reviewed unknown Array rs9684786 1642 10264 0.159977 11 0 12 0 0 - - - - - - - - - - - - Y - - - 0.565 Y Y 4 Y 2 N - - DOK7 Ser490Leu S490L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 6 Y 3 - 1 - - DOM3Z Arg294Cys R294C not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DOM3Z His261Gln H261Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17207867 846 7522 0.11247 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.107 - - -1 - 0 N - - DOPEY1 Arg596Gln R596Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4706980 956 10758 0.0888641 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - DOPEY1 Ser600Cys S600C not reviewed Insufficiently evaluated not reviewed unknown Array rs61543280 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - DOPEY1 Trp937Leu W937L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DOPEY1 Gln1781Leu Q1781L not reviewed Insufficiently evaluated not reviewed unknown Array rs9444039 274 10758 0.0254694 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - DOPEY2 Ser1021Leu S1021L not reviewed Insufficiently evaluated not reviewed unknown Array rs7278340 255 10756 0.0237077 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - DOPEY2 Cys1118Gly C1118G not reviewed Insufficiently evaluated not reviewed unknown Array rs4817788 9697 10758 0.901376 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DOPEY2 Pro1149His P1149H not reviewed Insufficiently evaluated not reviewed unknown Array rs3746866 1317 10758 0.122421 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - DOPEY2 Gly2139Glu G2139E not reviewed Insufficiently evaluated not reviewed unknown Array rs3827183 1258 10758 0.116936 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - DOT1L Asp588Glu D588E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - DOT1L Thr863Ser T863S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - DOT1L Ser864Ile S864I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - DOT1L Arg1170Leu R1170L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 6 Y 2 N - - DOT1L Gly1386Ser G1386S not reviewed Insufficiently evaluated not reviewed unknown Array rs3815308 3127 9840 0.317785 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DOT1L Val1418Leu V1418L not reviewed Insufficiently evaluated not reviewed unknown Array rs2302061 1859 9916 0.187475 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DOT1L Gly1453Ser G1453S not reviewed Insufficiently evaluated not reviewed unknown Array 127 8598 0.0147709 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPAGT1 Ile393Val I393V not reviewed Insufficiently evaluated not reviewed unknown Array rs643788 4197 10758 0.390128 30 0 37 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - DPCR1 Ile324Thr I324T not reviewed Insufficiently evaluated not reviewed unknown Array rs3095149 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DPCR1 Ala336Thr A336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPCR1 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - DPCR1 Phe338Ser F338S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DPCR1 Gly341Glu G341E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DPCR1 Glu720Gly E720G not reviewed Insufficiently evaluated not reviewed unknown Array 1019 3234 0.31509 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DPCR1 Ala1009Thr A1009T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPCR1 Thr1202Lys T1202K not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DPCR1 Gly1213Arg G1213R not reviewed Insufficiently evaluated not reviewed unknown Array 2127 10758 0.197713 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DPCR1 Glu1295Lys E1295K not reviewed Insufficiently evaluated not reviewed unknown Array rs3132580 1178 10758 0.1095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DPCR1 Arg1393Gln R1393Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2240804 2913 10758 0.270775 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DPEP1 Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array rs73265359 132 10706 0.0123295 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.925 - - 0 - 2 N - - DPEP1 Glu351Gln E351Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1126464 1956 10700 0.182804 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - DPEP2 Pro201Arg P201R not reviewed Insufficiently evaluated not reviewed unknown Array rs255051 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DPEP2 Asp106Ala D106A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - DPEP3 Asp330Asn D330N not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - DPF2 Arg205Pro R205P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - DPF3 Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742824 219 10334 0.0211922 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPM2 Thr76Ser T76S not reviewed Insufficiently evaluated not reviewed unknown Array rs7997 8611 10758 0.800428 48 0 80 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DPP10 Val281Met V281M not reviewed Insufficiently evaluated not reviewed unknown Array rs36044503 936 10758 0.087005 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DPP10 Val288Met V288M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Ala333Pro A333P not reviewed Insufficiently evaluated not reviewed unknown Array rs2053724 5118 10758 0.475739 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DPP10 Ala340Pro A340P not reviewed Insufficiently evaluated not reviewed unknown Array rs2053724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPP10 Val394Ile V394I not reviewed Insufficiently evaluated not reviewed unknown Array rs1446495 10427 10758 0.969232 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DPP10 Val401Ile V401I not reviewed Insufficiently evaluated not reviewed unknown Array rs1446495 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DPP10 Ser510Asn S510N not reviewed Insufficiently evaluated not reviewed unknown Array rs13421193 430 10744 0.0400223 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Ser517Asn S517N not reviewed Insufficiently evaluated not reviewed unknown Array rs13421193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP3 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array rs11826683 253 10758 0.0235174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DPP3 Gln145His Q145H not reviewed Insufficiently evaluated not reviewed unknown Array rs11550299 2286 10758 0.212493 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DPP3 Arg678His R678H not reviewed Insufficiently evaluated not reviewed unknown Array rs2305535 2141 10758 0.199015 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.071 - - 1 - 0 N - - DPP4 Ser277Thr S277T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DPP4 Val266Ile V266I not reviewed Insufficiently evaluated not reviewed unknown Array rs56179129 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - DPP6 Leu790Pro L790P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPP6 Leu792Pro L792P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPP6 Leu854Pro L854P not reviewed Insufficiently evaluated not reviewed unknown Array rs3734960 3691 10486 0.351993 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DPP7 Ala89Gly A89G not reviewed Insufficiently evaluated not reviewed unknown Array 8563 10110 0.846983 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DPP8 Arg519Lys R519K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DPP8 Arg535Lys R535K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - DPP8 Lys3Glu K3E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 4 - - DPPA2 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9809030 321 10758 0.0298383 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPPA3 Glu51Gln E51Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41449345 2926 10758 0.271984 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DPPA4 Ile55Val I55V not reviewed Insufficiently evaluated not reviewed unknown Array rs3762648 4243 10758 0.394404 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DPPA4 Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57223541 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DPPA4 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs16855561 674 10758 0.0626511 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DPT Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - DPY19L1 Gly502Val G502V not reviewed Insufficiently evaluated not reviewed unknown Array rs1637696 2693 9606 0.280346 27 0 29 0 0 - - - - - - - - - - - - - - - - 0.03 - - 8 Y 0 N - - DPY19L2 Val757Ile V757I not reviewed Insufficiently evaluated not reviewed unknown Array rs12314553 1905 10758 0.177078 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - DPY19L2 Val361Leu V361L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - DPY19L2 Arg132Cys R132C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10746 0.000558347 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - DPY19L2 Ser51Ala S51A not reviewed Insufficiently evaluated not reviewed unknown Array rs10878073 2847 10754 0.264739 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DPY19L2 Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array rs10878074 2796 10740 0.260335 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DPY19L2 Met37Val M37V not reviewed Insufficiently evaluated not reviewed unknown Array rs10878075 2772 10730 0.258341 30 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DPY19L2 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 21 10586 0.00198375 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.351 - - 7 Y 1 N - - DPY19L4 Val176Ala V176A not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - DPYD Val732Ile V732I not reviewed Insufficiently evaluated not reviewed unknown Array rs1801160 453 10758 0.0421082 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.905 Y - -4 - 4 - 10 - - DPYD Arg592Trp R592W not reviewed Insufficiently evaluated not reviewed unknown Array rs59086055 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - DPYD Ile543Val I543V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801159 1988 10758 0.184793 14 0 17 1 1 - - - - - - - - - - - - Y - - Y - Y - -4 - 3 N 10 - - Increase incidence of nausea with fluoruracil. DPYD Ser534Asn S534N pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs1801158 168 10754 0.0156221 3 0 3 2 2 1 Y - - 3 Y 0 Y 4 Y 4 Y Y - - - 0.996 Y - 0 - Hereditary Thymine-Uraciluria 2 8 5 309 15.450 4 - 10 - - The variant was implicated in dihydropyrimidine dehydrogenase deficiency when present as a compound heterozygote with M166V. This enzyme is important in the metabolism of the anticancer drug 5-fluorouracil. DPYD Ala450Val A450V not reviewed Insufficiently evaluated not reviewed unknown Array rs72975710 5 10756 0.000464856 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 2 - 3 N - - DPYD Met166Val M166V pharmacogenetic High clinical importance, Likely pharmacogenetic unknown Array rs2297595 838 10758 0.0778955 11 0 12 3 3 - - - - 5 Y - - 3 Y 4 Y Y - - Y 0.998 Y - 0 - Hereditary Thymine-Uraciluria 22 7 70 82 3.682 4 N 10 2 1 Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil. DPYD Arg29Cys R29C pharmacogenetic Insufficiently evaluated pharmacogenetic other Array rs1801265 7680 10758 0.713887 48 0 77 5 5 1 Y 1 Y - - - - 5 Y 4 Y Y - - - - Y - 8 Y 2 - 1 - - This variant is also known as DPYD*9A, and is associated with Dihydropyrimidine dehydrogenase deficiency and impaired clearance of 5-fluorouracil with potential toxic consequence. DPYS Arg181Trp R181W not reviewed Insufficiently evaluated not reviewed unknown Array rs36027551 146 10758 0.0135713 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 7 Y 1 N - - DQX1 Tyr350Ser Y350S not reviewed Insufficiently evaluated not reviewed unknown Array 279 10758 0.0259342 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DR1 Glu171Asp E171D not reviewed Insufficiently evaluated not reviewed unknown Array rs3088371 849 10758 0.078918 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DRD2 Ser282Cys S282C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DRD2 Ser311Cys S311C pathogenic Low clinical importance, Likely pathogenic dominant Array rs1801028 181 10758 0.0168247 2 0 3 6 6 0 Y 2 Y 4 Y 0 Y 4 Y 4 Y Y - - Y 0.799 Y Y 3 - 5 N 10 0 1 Various studies report this variant in a dopamine receptor is associated with increased risk for schizophrenia. Assuming an average 1% chance of schizophrenia in the general population, combined data suggests carriers of this variant have a risk of 1.4% (0.4% increased risk above average). DRD3 Gly9Ser G9S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6280 5734 10752 0.533296 65 0 99 3 3 - - 4 Y - - - - - - - - Y - - Y - - - 2 - 2 N 6 - - Dopamine agonist for the D3 receptor - increases receptor affinity for dopamine by 4-5 times. So a gain-of-function mutation that could have positive or negative effects depending on the person's brain. DRD4 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10682 9.3615e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DRD4 Pro303Gln P303Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DRD5 Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DRD5 His268Gln H268Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - -1 - 2 N - - DRD5 Thr297Pro T297P not reviewed Insufficiently evaluated not reviewed unknown Array 624 10750 0.0580465 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - DRD5 Cys322Arg C322R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DRD5 Glu327Lys E327K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DRD5 Pro330Gln P330Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800762 100 10758 0.00929541 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DRG2 Ser224Thr S224T not reviewed Insufficiently evaluated not reviewed unknown Array rs61256737 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DRP2 Val68Leu V68L not reviewed Insufficiently evaluated not reviewed unknown Array rs7066252 1192 8761 0.136058 14 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DSC1 Cys848Phe C848F not reviewed Insufficiently evaluated not reviewed unknown Array rs985861 1035 10758 0.0962075 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DSC1 Thr746Met T746M not reviewed Insufficiently evaluated not reviewed unknown Array rs60591390 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DSC1 Val460Ile V460I not reviewed Insufficiently evaluated not reviewed unknown Array rs17800159 988 10758 0.0918386 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DSC1 Ser93Phe S93F not reviewed Insufficiently evaluated not reviewed unknown Array rs35338395 488 10758 0.0453616 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DSC2 Ile776Val I776V not reviewed Insufficiently evaluated not reviewed unknown Array rs1893963 2061 10758 0.191578 26 0 32 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - DSC3 Gly492Ser G492S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.789 - - 2 - 1 N - - DSC3 Lys180Gln K180Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35296997 96 10754 0.00892691 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - - -2 - 0 N - - DSC3 Arg102Lys R102K not reviewed Insufficiently evaluated not reviewed unknown Array rs276938 3520 10758 0.327198 33 0 42 0 0 - - - - - - - - - - - - Y - - - - - - -3 - 0 N - - DSC3 Ser78Thr S78T not reviewed Insufficiently evaluated not reviewed unknown Array rs276937 3496 10758 0.324967 32 0 42 0 0 - - - - - - - - - - - - Y - - - 0.314 - - -2 - 0 N - - DSC3 Ala28Asp A28D not reviewed Insufficiently evaluated not reviewed unknown Array rs2852003 453 10756 0.042116 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.067 - - 5 Y 0 N - - DSCAM Val757Leu V757L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10292 0.00592693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSCAM Val722Met V722M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9774 0.000102312 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DSCAM Arg234His R234H not reviewed Insufficiently evaluated not reviewed unknown Array rs41395652 318 9780 0.0325153 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - DSCAM Asp232Glu D232E not reviewed Insufficiently evaluated not reviewed unknown Array rs2297270 1017 9774 0.104052 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DSCAML1 His232Asn H232N not reviewed Insufficiently evaluated not reviewed unknown Array rs3741280 3494 10758 0.324782 38 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DSCAML1 Met197Val M197V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSCC1 His376Arg H376R not reviewed Insufficiently evaluated not reviewed unknown Array rs1055130 7797 10750 0.725302 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DSE Cys18Phe C18F not reviewed Insufficiently evaluated not reviewed unknown Array 368 10758 0.0342071 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.989 - - 4 Y 3 - 9 - - DSE Thr25Ile T25I not reviewed Insufficiently evaluated not reviewed unknown Array rs10485183 2754 10758 0.255996 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - DSE Val381Ala V381A not reviewed Insufficiently evaluated not reviewed unknown Array rs41313440 530 10758 0.0492657 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - DSE Pro563Thr P563T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - DSEL Ile1123Met I1123M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSEL Pro1065Thr P1065T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DSEL Pro952Ser P952S not reviewed Insufficiently evaluated not reviewed unknown Array rs118048833 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSEL Tyr740Cys Y740C not reviewed Insufficiently evaluated not reviewed unknown Array rs12953840 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DSEL Pro683Ser P683S not reviewed Insufficiently evaluated not reviewed unknown Array rs2279269 4795 10758 0.445715 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DSG1 Met11Val M11V not reviewed Insufficiently evaluated not reviewed unknown Array rs1426310 5153 10758 0.478992 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DSG1 Asn493Thr N493T not reviewed Insufficiently evaluated not reviewed unknown Array rs8091003 2231 10758 0.207381 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DSG1 Thr498Asn T498N not reviewed Insufficiently evaluated not reviewed unknown Array rs8091117 2102 10758 0.195389 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - DSG1 Tyr528Ser Y528S not reviewed Insufficiently evaluated not reviewed unknown Array rs16961689 1168 10758 0.10857 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DSG1 Lys537Arg K537R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730306 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DSG1 Asp538Asn D538N not reviewed Insufficiently evaluated not reviewed unknown Array rs34302455 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSG1 Pro577Ser P577S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DSG1 Met681Thr M681T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - DSG1 Leu821Gln L821Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16961692 482 10758 0.0448039 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DSG1 Tyr841Phe Y841F not reviewed Insufficiently evaluated not reviewed unknown Array rs3752095 1476 10758 0.1372 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 1 N - - DSG1 Val853Ile V853I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSG2 Arg146Leu R146L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9716 0.000514615 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 6 Y 4 N - - DSG2 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230234 608 9640 0.0630705 9 0 10 0 0 5 Y - - - - - - - - - - Y - - - 0.961 Y Y -4 - 3 N - - DSG2 Arg773Lys R773K not reviewed Insufficiently evaluated not reviewed unknown Array rs2278792 1937 9974 0.194205 18 0 22 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -3 - 2 N - - DSG2 Ile962Met I962M not reviewed Insufficiently evaluated not reviewed unknown Array 24 9998 0.00240048 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.023 Y Y -1 - 2 N - - DSG3 Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73414212 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DSG3 Ser771Phe S771F not reviewed Insufficiently evaluated not reviewed unknown Array 292 10758 0.0271426 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - DSG3 Thr912Ala T912A not reviewed Insufficiently evaluated not reviewed unknown Array rs1380866 10739 10758 0.998234 56 0 111 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DSG3 Ile960Val I960V not reviewed Insufficiently evaluated not reviewed unknown Array rs73414241 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSG4 His368Asn H368N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.843 - - 0 - 1 N - - DSG4 Pro523Leu P523L not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 7 Y 2 N - - DSG4 Ile644Leu I644L not reviewed Insufficiently evaluated not reviewed unknown Array rs4799570 9975 10758 0.927217 56 0 105 0 0 - - - - - - - - - - - - Y - - - - - - -2 - 1 - 1 - - DSG4 Thr765Ala T765A not reviewed Insufficiently evaluated not reviewed unknown Array rs61734847 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.715 - - 1 - 1 N - - DSG4 Thr784Ala T784A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - DSG4 Met1023Ile M1023I not reviewed Insufficiently evaluated not reviewed unknown Array rs60800275 257 10756 0.0238936 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.235 - - -1 - 1 N - - DSG4 Met1042Ile M1042I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - DSP Tyr1512Cys Y1512C not reviewed Insufficiently evaluated not reviewed unknown Array rs2076299 1295 10758 0.120376 16 0 20 0 0 - - - - - - - - - - - - Y - - - 0.793 Y Y 6 Y 3 - 2 - - DSP Asn1526Lys N1526K not reviewed Insufficiently evaluated not reviewed unknown Array rs28763966 572 10758 0.0531697 4 0 6 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 1 - 3 Y - - DSP Arg1537Cys R1537C benign Low clinical importance, Uncertain benign unknown Array rs28763967 112 10758 0.0104109 2 0 2 1 1 ! Y - - 4 Y 0 Y - - - - Y - - - 0.998 Y Y 8 Y 5 - 1 0 0 Probably benign / nonpathogenic. DSP Arg1738Gln R1738Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6929069 2143 10758 0.199201 20 0 27 0 0 1 Y - - - - - - - - - - Y - - - 0.295 Y Y 0 - 3 - 1 - - DSP Arg1775Ile R1775I pathogenic Insufficiently evaluated pathogenic dominant Array 1 10758 9.2954e-05 0 0 0 1 1 4 Y - - 0 Y 0 Y 1 - 0 Y Y - - - 0.76 Y Y 7 Y Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos 1 24 0 100 INF 4 - 3 - - Found in one individual with Arrhythmogenic right ventricular cardiomyopathy, and a 52yo female sibling currently asymptomatic but being monitored. DSP Arg1239His R1239H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - DSP Arg1838His R1838H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 1 - 4 N - - DSP Ile1474Lys I1474K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DSP Ile2073Lys I2073K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 6 Y 4 N - - DSPP Arg68Trp R68W benign Low clinical importance, Uncertain benign unknown Array rs36094464 1413 9878 0.143045 16 0 18 3 3 ! Y - - 3 Y - - - - - - - Y - - - - - 7 Y 2 N 0 0 Probably benign. One report linked this to causing dentinogenesis Imperfecta type II in a large Swedish family, but subsequent publications have observed this is a common variant and conclude it is a nonpathogenic polymorphism. DSPP Pro231Thr P231T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738509 115 10110 0.0113749 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - DSPP Asp243Asn D243N not reviewed Insufficiently evaluated not reviewed unknown Array rs3750025 215 10200 0.0210784 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSPP Gly268Trp G268W not reviewed Insufficiently evaluated not reviewed unknown Array rs61738508 111 10196 0.0108866 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - DSPP Asn685Ser N685S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSPP Gly850Ser G850S not reviewed Insufficiently evaluated not reviewed unknown Array 3612 8100 0.445926 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DSPP Asp913Asn D913N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSPP Ser960Gly S960G not reviewed Insufficiently evaluated not reviewed unknown Array 3314 8102 0.409035 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DSPP Asn1002Asp N1002D not reviewed Insufficiently evaluated not reviewed unknown Array rs62642443 2009 8146 0.246624 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DSPP Asn1029Asp N1029D not reviewed Insufficiently evaluated not reviewed unknown Array 1036 7508 0.137986 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DSPP Asp1074Gly D1074G not reviewed Insufficiently evaluated not reviewed unknown Array 1235 7728 0.159808 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DSPP Glu1083Asp E1083D not reviewed Insufficiently evaluated not reviewed unknown Array 1490 6788 0.219505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DSPP Asp1101Asn D1101N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSPP Asn1140Asp N1140D not reviewed Insufficiently evaluated not reviewed unknown Array 6151 7174 0.857402 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DSPP Glu1149Asp E1149D not reviewed Insufficiently evaluated not reviewed unknown Array 1105 7762 0.14236 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DSPP Asp1152Asn D1152N not reviewed Insufficiently evaluated not reviewed unknown Array 1309 7798 0.167864 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DSPP Asp1191Glu D1191E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DSPP Asn1232Ser N1232S not reviewed Insufficiently evaluated not reviewed unknown Array 14 8032 0.00174303 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSPP Glu1233Asp E1233D not reviewed Insufficiently evaluated not reviewed unknown Array 5 8064 0.000620039 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DSPP Asn1248Asp N1248D not reviewed Insufficiently evaluated not reviewed unknown Array 320 8220 0.0389294 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Ala5042Thr A5042T not reviewed Insufficiently evaluated not reviewed unknown Array rs11758339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Ala5368Thr A5368T not reviewed Insufficiently evaluated not reviewed unknown Array rs11758339 34 126 0.269841 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DST Ala5397Thr A5397T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Ala5408Thr A5408T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Ala5546Thr A5546T not reviewed Insufficiently evaluated not reviewed unknown Array rs11758339 2055 9918 0.207199 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DST Leu4370Val L4370V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu4696Val L4696V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu4725Val L4725V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu4736Val L4736V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu4874Val L4874V not reviewed Insufficiently evaluated not reviewed unknown Array 21 9864 0.00212895 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Arg4095His R4095H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg4421His R4421H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg4450His R4450H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg4461His R4461H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg4599His R4599H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10044 0.000199123 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Met2813Ile M2813I not reviewed Insufficiently evaluated not reviewed unknown Array rs4715630 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Met3139Ile M3139I not reviewed Insufficiently evaluated not reviewed unknown Array rs4715630 97 128 0.757812 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DST Met3168Ile M3168I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Met3179Ile M3179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Met3317Ile M3317I not reviewed Insufficiently evaluated not reviewed unknown Array rs4715630 7706 9672 0.796733 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DST Thr2726Ala T2726A not reviewed Insufficiently evaluated not reviewed unknown Array rs4715631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Thr3052Ala T3052A not reviewed Insufficiently evaluated not reviewed unknown Array rs4715631 83 128 0.648438 48 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DST Thr3081Ala T3081A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Thr3092Ala T3092A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Thr3230Ala T3230A not reviewed Insufficiently evaluated not reviewed unknown Array rs4715631 6656 9738 0.683508 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DST Ser2678Leu S2678L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser3004Leu S3004L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser3033Leu S3033L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser3044Leu S3044L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser3182Leu S3182L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Val2418Ile V2418I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DST Val2744Ile V2744I not reviewed Insufficiently evaluated not reviewed unknown Array rs62621210 7 128 0.0546875 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DST Val2773Ile V2773I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DST Val2784Ile V2784I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DST Val2922Ile V2922I not reviewed Insufficiently evaluated not reviewed unknown Array 637 9622 0.0662025 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DST Arg2291His R2291H not reviewed Insufficiently evaluated not reviewed unknown Array rs11756977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg2617His R2617H not reviewed Insufficiently evaluated not reviewed unknown Array rs11756977 45 128 0.351562 33 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DST Arg2646His R2646H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg2657His R2657H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Arg2795His R2795H not reviewed Insufficiently evaluated not reviewed unknown Array 3089 9962 0.310078 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DST Lys2267Asn K2267N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Lys2593Asn K2593N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Lys2622Asn K2622N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Lys2633Asn K2633N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Lys2771Asn K2771N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Gln1308Arg Q1308R not reviewed Insufficiently evaluated not reviewed unknown Array rs4712138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Gln1634Arg Q1634R not reviewed Insufficiently evaluated not reviewed unknown Array rs4712138 54 126 0.428571 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DST Gln1663Arg Q1663R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Gln1674Arg Q1674R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Gln1812Arg Q1812R not reviewed Insufficiently evaluated not reviewed unknown Array 3630 9582 0.378835 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DST Asn2832Lys N2832K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Thr2422Ser T2422S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DST Asn2308Ser N2308S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Pro2138Leu P2138L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DST Asp1987Val D1987V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DST Val2125Ile V2125I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DST Val2011Leu V2011L not reviewed Insufficiently evaluated not reviewed unknown Array rs6459166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Ala2003Thr A2003T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Tyr1810His Y1810H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Lys1718Thr K1718T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST His1116Tyr H1116Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - DST Asn1319Lys N1319K not reviewed Insufficiently evaluated not reviewed unknown Array rs35014998 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn1348Lys N1348K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn1359Lys N1359K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn1497Lys N1497K not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn993Lys N993K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Ala1005Pro A1005P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Ala501Pro A501P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - DST Ala827Pro A827P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Ala856Pro A856P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Ala867Pro A867P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Leu33Ser L33S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DSTYK Cys641Arg C641R not reviewed Insufficiently evaluated not reviewed unknown Array rs3851294 9990 10758 0.928611 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DSTYK Leu432Val L432V not reviewed Insufficiently evaluated not reviewed unknown Array rs35845538 406 10758 0.0377394 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 1 - 2 - - DTL Ser425Asn S425N not reviewed Insufficiently evaluated not reviewed unknown Array rs35137676 292 10758 0.0271426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DTL Ala436Val A436V not reviewed Insufficiently evaluated not reviewed unknown Array rs3135474 10206 10758 0.948689 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DTL Lys694Thr K694T not reviewed Insufficiently evaluated not reviewed unknown Array rs6540718 10669 10758 0.991727 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DTNBP1 Arg211Gly R211G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DTNBP1 Arg292Gly R292G not reviewed Insufficiently evaluated not reviewed unknown Array rs73369534 334 10758 0.0310467 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.637 Y Y 6 Y 3 N - - DTNBP1 Pro191Ser P191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - DTNBP1 Pro272Ser P272S protective Low clinical importance, Uncertain protective recessive Array rs17470454 378 10758 0.0351366 5 0 5 1 1 0 Y - - 2 Y 0 Y 3 Y 3 Y Y - - - 0.818 Y Y 3 - 4 - 1 0 0 Possibly a slight protective effect against colorectal cancer if homozygous. DTNBP1 His297Tyr H297Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 1 - - DTX2 Thr339Lys T339K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DTX2 Thr374Ala T374A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DTX2 Thr421Ala T421A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729576 7551 10736 0.703335 10 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DTX3L Arg425Lys R425K not reviewed Insufficiently evaluated not reviewed unknown Array rs2332285 5860 10758 0.544711 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DTX3L Pro611Ser P611S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - DTX3L Gly613Glu G613E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DTX3L Lys668Met K668M not reviewed Insufficiently evaluated not reviewed unknown Array rs9868175 426 10758 0.0395984 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.068 - - 4 Y 0 N - - DUB3 Leu487Gln L487Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DUB3 Asn462Asp N462D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DUB3 Lys438Arg K438R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DUB3 Ala403Val A403V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DUB3 Pro262Leu P262L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DUB3 Gln83His Q83H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DUB3 Leu62Phe L62F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUB3 Gln61His Q61H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DUB3 Lys40Asn K40N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DULLARD Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - DUOX1 Ile962Thr I962T not reviewed Insufficiently evaluated not reviewed unknown Array rs16939743 754 10758 0.0700874 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DUOX1 Cys1026Arg C1026R not reviewed Insufficiently evaluated not reviewed unknown Array rs16939752 1832 10758 0.170292 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DUOX1 Ala1070Glu A1070E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - DUOX1 Met1104Ile M1104I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - DUOX1 Leu1178Phe L1178F not reviewed Insufficiently evaluated not reviewed unknown Array rs2458236 6340 10758 0.589329 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DUOX2 Ser1067Leu S1067L not reviewed Insufficiently evaluated not reviewed unknown Array rs269868 7520 10758 0.699015 39 0 67 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - DUOX2 Pro982Ala P982A not reviewed Insufficiently evaluated not reviewed unknown Array rs61730030 367 10758 0.0341141 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - DUOX2 Arg701Gln R701Q not reviewed Insufficiently evaluated not reviewed unknown Array 520 10758 0.0483361 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - DUOX2 His678Arg H678R not reviewed Insufficiently evaluated not reviewed unknown Array rs57659670 1955 10758 0.181725 20 0 28 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 6 - - DUOX2 Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array rs2001616 7973 10758 0.741123 44 0 74 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 - 2 - - DUOXA1 Arg478Pro R478P not reviewed Insufficiently evaluated not reviewed unknown Array rs61751061 1817 10610 0.171254 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DUOXA1 Trp421Gly W421G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DUOXA1 Ser313Gly S313G not reviewed Insufficiently evaluated not reviewed unknown Array rs16977686 74 10758 0.0068786 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - DUOXA1 Arg133Leu R133L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 6 Y 2 N - - DUOXA1 Pro19Leu P19L not reviewed Insufficiently evaluated not reviewed unknown Array rs34734975 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.191 - - 7 Y 0 N - - DUOXA2 Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array rs2576090 8659 10028 0.863482 50 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DUPD1 Ser137Arg S137R not reviewed Insufficiently evaluated not reviewed unknown Array rs16931938 2401 10756 0.223224 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DUPD1 Asp66Asn D66N not reviewed Insufficiently evaluated not reviewed unknown Array rs11594934 778 10758 0.0723183 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.784 - - -1 - 0 N - - DUS1L Gly364Ser G364S not reviewed Insufficiently evaluated not reviewed unknown Array rs73999366 342 10754 0.0318021 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DUS2L Arg149Cys R149C not reviewed Insufficiently evaluated not reviewed unknown Array rs59111022 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DUS2L Ala469Pro A469P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 1 N - - DUS3L Asp609Asn D609N not reviewed Insufficiently evaluated not reviewed unknown Array rs12977803 154 10664 0.0144411 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - -1 - 1 - 3 - - DUS3L Arg185Gly R185G not reviewed Insufficiently evaluated not reviewed unknown Array rs2436487 3560 10548 0.337505 30 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DUS4L Thr178Ala T178A not reviewed Insufficiently evaluated not reviewed unknown Array rs6956789 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - DUS4L Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6957510 541 10758 0.0502882 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DUSP11 Tyr336Ser Y336S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DUSP11 Asp36Gly D36G not reviewed Insufficiently evaluated not reviewed unknown Array rs2272051 6516 10758 0.605689 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DUSP12 Ala177Ser A177S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DUSP12 Ile178Leu I178L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DUSP13 Cys156Tyr C156Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3088142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.234 - - 6 Y 1 N - - DUSP13 Cys206Tyr C206Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3088142 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DUSP13 Cys249Tyr C249Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3088142 5456 10758 0.507157 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DUSP13 Ser75Gly S75G not reviewed Insufficiently evaluated not reviewed unknown Array rs6480771 5757 10758 0.535137 47 0 72 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DUSP13 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array 121 10678 0.0113317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DUSP13 Lys73Arg K73R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DUSP14 Val184Ile V184I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - DUSP15 Val197Leu V197L not reviewed Insufficiently evaluated not reviewed unknown Array rs947310 3794 9046 0.419412 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DUSP15 Val94Leu V94L not reviewed Insufficiently evaluated not reviewed unknown Array rs947310 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUSP21 Met186Thr M186T not reviewed Insufficiently evaluated not reviewed unknown Array rs1045031 2201 8761 0.251227 20 0 33 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - DUSP22 Arg119His R119H not reviewed Insufficiently evaluated not reviewed unknown Array rs7768224 576 10758 0.0535415 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - DUSP22 Glu152Gly E152G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.189 - - 6 Y 0 N - - DUSP27 Glu265Asp E265D not reviewed Insufficiently evaluated not reviewed unknown Array rs267745 6504 10758 0.604573 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DUSP27 Arg466His R466H not reviewed Insufficiently evaluated not reviewed unknown Array rs6668826 2161 10756 0.200911 24 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DUSP27 Ala505Thr A505T not reviewed Insufficiently evaluated not reviewed unknown Array rs3795605 2158 10758 0.200595 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DUSP27 Thr676Met T676M not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DUSP27 Glu853Ala E853A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748778 529 10758 0.0491727 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - DUSP27 Lys855Gln K855Q not reviewed Insufficiently evaluated not reviewed unknown Array rs267746 2594 10758 0.241123 29 0 31 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - DUSP27 Asp877Asn D877N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - DUSP27 Asp1067Asn D1067N not reviewed Insufficiently evaluated not reviewed unknown Array rs61748784 1074 10758 0.0998327 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.868 - - -1 - 1 N - - DUSP27 Thr1124Asn T1124N not reviewed Insufficiently evaluated not reviewed unknown Array rs2281959 3245 10758 0.301636 33 0 44 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 0 N - - DUSP27 Gln1153Arg Q1153R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - DUSP5 Ala55Ser A55S not reviewed Insufficiently evaluated not reviewed unknown Array 161 10192 0.0157967 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DUSP5 Glu154Asp E154D not reviewed Insufficiently evaluated not reviewed unknown Array rs2282238 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - DUSP5 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array rs1889566 10398 10758 0.966537 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DUSP5 Ala220Val A220V not reviewed Insufficiently evaluated not reviewed unknown Array rs1889565 10397 10758 0.966444 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DUSP6 Ser144Ala S144A not reviewed Insufficiently evaluated not reviewed unknown Array rs770087 2799 10758 0.260178 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DUSP6 Val114Leu V114L not reviewed Insufficiently evaluated not reviewed unknown Array rs2279574 4571 10596 0.431389 28 0 42 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - DUSP8 Arg558Gly R558G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DUSP8 His378Tyr H378Y not reviewed Insufficiently evaluated not reviewed unknown Array 144 6740 0.021365 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DUT Glu34Lys E34K not reviewed Insufficiently evaluated not reviewed unknown Array 11 8342 0.00131863 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 9 - - DVL1 Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 3 - 1 - - DVL3 Arg221Gly R221G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - DVL3 Lys223Glu K223E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 0 - 0 N - - DYDC2 Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DYM Ile167Asn I167N not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 1 N - - DYNC1H1 His4029Gln H4029Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10129889 1438 10758 0.133668 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - DYNC1I1 Val570Ile V570I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DYNC1I1 Val590Ile V590I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DYNC1I1 Val607Ile V607I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - DYNC1LI1 Gln277Arg Q277R not reviewed Insufficiently evaluated not reviewed unknown Array rs2303857 716 10726 0.0667537 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.452 - - 0 - 0 N - - DYNC1LI1 Met147Thr M147T not reviewed Insufficiently evaluated not reviewed unknown Array rs34181332 142 10756 0.0132019 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.818 - - 2 - 2 - 2 - - DYNC1LI1 Ile30Arg I30R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10744 0.00344378 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYNC2H1 His341Tyr H341Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17301182 840 9436 0.0890208 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.3 - - -1 - 0 N - - DYNC2H1 Glu954Lys E954K not reviewed Insufficiently evaluated not reviewed unknown Array 105 9524 0.0110248 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DYNC2H1 Thr1288Ala T1288A not reviewed Insufficiently evaluated not reviewed unknown Array rs17301750 823 9572 0.0859799 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.149 - - 1 - 0 N - - DYNC2H1 Lys1413Arg K1413R not reviewed Insufficiently evaluated not reviewed unknown Array rs688906 6006 8850 0.678644 46 0 71 0 0 - - - - - - - - - - - - - - - - 0.063 - - -3 - 0 N - - DYNC2H1 Arg2871Gln R2871Q not reviewed Insufficiently evaluated not reviewed unknown Array rs589623 7047 9324 0.755791 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DYNC2H1 Ala3687Val A3687V not reviewed Insufficiently evaluated not reviewed unknown Array rs10895391 2863 9496 0.301495 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DYNC2H1 Asp3986Asn D3986N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DYNC2LI1 Phe33Ser F33S not reviewed Insufficiently evaluated not reviewed unknown Array rs2288709 5631 10758 0.523424 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DYNC2LI1 Phe184Tyr F184Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9309107 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DYNC2LI1 Ile185Thr I185T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DYNC2LI1 Ile230Leu I230L not reviewed Insufficiently evaluated not reviewed unknown Array rs11556157 2915 10754 0.271062 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DYRK4 Ala61Thr A61T not reviewed Insufficiently evaluated not reviewed unknown Array rs12306130 433 10758 0.0402491 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DYRK4 Asn189Ser N189S not reviewed Insufficiently evaluated not reviewed unknown Array rs3741927 129 10758 0.0119911 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DYSF Leu189Val L189V not reviewed Insufficiently evaluated not reviewed unknown Array rs13407355 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - DYSF Leu190Val L190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Leu220Val L220V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Leu221Val L221V not reviewed Insufficiently evaluated not reviewed unknown Array 257 10758 0.0238892 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg794Gln R794Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg795Gln R795Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg808Gln R808Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.966 Y Y 0 - 4 N - - DYSF Arg809Gln R809Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg825Gln R825Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg826Gln R826Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg839Gln R839Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg840Gln R840Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Ile820Val I820V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DYSF Ile821Val I821V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DYSF Ile834Val I834V not reviewed Insufficiently evaluated not reviewed unknown Array rs34671418 5 128 0.0390625 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.077 Y Y -4 - 2 N - - DYSF Ile835Val I835V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DYSF Ile851Val I851V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DYSF Ile852Val I852V not reviewed Insufficiently evaluated not reviewed unknown Array 478 10758 0.0444321 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -4 - 2 N - - DYSF Ile865Val I865V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DYSF Ile866Val I866V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - DYSF Arg1082His R1082H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DYSF Arg1083His R1083H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DYSF Arg1096His R1096H not reviewed Insufficiently evaluated not reviewed unknown Array rs59915619 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - DYSF Arg1097His R1097H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y 1 - 4 N - - DYSF Arg1113His R1113H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DYSF Arg1114His R1114H not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DYSF Arg1127His R1127H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DYSF Arg1128His R1128H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - DYSF Arg1317Leu R1317L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Arg1318Leu R1318L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Arg1331Leu R1331L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742872 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.089 Y Y 6 Y 2 N - - DYSF Arg1332Leu R1332L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Arg1348Leu R1348L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Arg1349Leu R1349L not reviewed Insufficiently evaluated not reviewed unknown Array 269 10758 0.0250046 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Arg1362Leu R1362L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Arg1363Leu R1363L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DYSF Lys1512Thr K1512T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1513Thr K1513T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1526Thr K1526T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 3 - 2 N - - DYSF Lys1527Thr K1527T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1533Thr K1533T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1534Thr K1534T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1543Thr K1543T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1544Thr K1544T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1547Thr K1547T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1548Thr K1548T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1557Thr K1557T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1558Thr K1558T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1564Thr K1564T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Lys1565Thr K1565T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Asp1680Gly D1680G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1681Gly D1681G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1694Gly D1694G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 4 Y 4 N - - DYSF Asp1695Gly D1695G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1701Gly D1701G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1702Gly D1702G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1711Gly D1711G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1712Gly D1712G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1715Gly D1715G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1716Gly D1716G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1725Gly D1725G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1726Gly D1726G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1732Gly D1732G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Asp1733Gly D1733G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYTN Gln474Lys Q474K not reviewed Insufficiently evaluated not reviewed unknown Array rs2115591 4348 10070 0.431778 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DYTN Tyr241Cys Y241C not reviewed Insufficiently evaluated not reviewed unknown Array rs16838593 612 9748 0.0627821 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - DYX1C1 Ser420Cys S420C not reviewed Insufficiently evaluated not reviewed unknown Array 940 10748 0.0874581 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - DYX1C1 Glu417Stop E417X pathogenic Low clinical importance, Uncertain pathogenic unknown Array rs57809907 2165 10746 0.20147 27 0 32 1 1 - - - - 2 - - - 2 - - - - Y - - - - - 10 Y 3 N 0 0 One study reports this variant to be associated with dyslexia. The study group was relatively small and so the results did not have strong significance. If they are representative this variant is associated with a doubled risk for dyslexia, but it is unclear whether the effect would be additive, dominant, or recessive. DYX1C1 Glu286Asp E286D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.192 - - -2 - 0 N - - DYX1C1 Glu191Gly E191G not reviewed Insufficiently evaluated not reviewed unknown Array rs600753 4803 10640 0.45141 43 0 56 0 0 - - - - - - - - - - - - - - - - 0.249 - - 6 Y 0 N - - DYX1C1 Val91Ile V91I not reviewed Insufficiently evaluated not reviewed unknown Array rs17819126 553 10758 0.0514036 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DYX1C1 Asn38Lys N38K not reviewed Insufficiently evaluated not reviewed unknown Array rs16976354 718 10756 0.0667534 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - DZIP1 Pro717Ser P717S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DZIP1 Pro736Ser P736S not reviewed Insufficiently evaluated not reviewed unknown Array rs11070136 3482 10758 0.323666 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - DZIP1 Met645Leu M645L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DZIP1 Met664Leu M664L not reviewed Insufficiently evaluated not reviewed unknown Array rs34303958 210 10754 0.0195276 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DZIP1 Thr172Met T172M not reviewed Insufficiently evaluated not reviewed unknown Array rs9561921 1003 10758 0.0932329 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DZIP1 Ala167Val A167V not reviewed Insufficiently evaluated not reviewed unknown Array rs73548765 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - DZIP1L Lys645Glu K645E not reviewed Insufficiently evaluated not reviewed unknown Array rs442800 6321 10758 0.587563 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DZIP1L Arg593His R593H not reviewed Insufficiently evaluated not reviewed unknown Array rs374045 7745 10758 0.719929 38 0 60 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 0 N - - DZIP1L Ala551Val A551V not reviewed Insufficiently evaluated not reviewed unknown Array rs11917468 596 10758 0.0554006 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - DZIP1L Thr545Ala T545A not reviewed Insufficiently evaluated not reviewed unknown Array rs446644 7748 10758 0.720208 39 0 61 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - DZIP1L Arg321Trp R321W not reviewed Insufficiently evaluated not reviewed unknown Array rs2724693 6047 10758 0.562093 34 0 49 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 1 N - - DZIP3 Phe767Leu F767L not reviewed Insufficiently evaluated not reviewed unknown Array 162 10754 0.0150642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.61 - - 0 - 1 N - - DZIP3 Trp1009Stop W1009X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DZIP3 Ser1109Pro S1109P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - E2F1 Gly393Ser G393S not reviewed Insufficiently evaluated not reviewed unknown Array rs3213176 255 10734 0.0237563 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - E2F1 Pro54Ala P54A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 2 - 4 - - E2F2 Gln226His Q226H not reviewed Insufficiently evaluated not reviewed unknown Array rs2075995 3989 10758 0.370794 33 0 40 0 0 - - - - - - - - - - - - - - - - 0.07 - - -1 - 0 N - - E2F4 Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - E2F7 His854Gln H854Q not reviewed Insufficiently evaluated not reviewed unknown Array rs310831 933 10758 0.0867262 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - E2F7 Ser623Leu S623L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - E2F7 Phe72Leu F72L not reviewed Insufficiently evaluated not reviewed unknown Array rs310791 9000 10758 0.836587 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - E4F1 Arg167His R167H not reviewed Insufficiently evaluated not reviewed unknown Array rs26839 10670 10750 0.992558 30 0 59 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - E4F1 Val355Ile V355I not reviewed Insufficiently evaluated not reviewed unknown Array rs59784157 157 10550 0.0148815 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - E4F1 Gly365Arg G365R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10650 0.00197183 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - E4F1 Ala391Asp A391D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 1 - 1 - - EAF1 Pro155Thr P155T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 1 - 1 - - EAF1 Arg233Met R233M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - EAPP Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17856037 719 9954 0.0722323 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EAPP Gln168Glu Q168E not reviewed Insufficiently evaluated not reviewed unknown Array rs17856038 712 10126 0.070314 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.361 - - -2 - 0 N - - EARS2 Ser457Gly S457G not reviewed Insufficiently evaluated not reviewed unknown Array rs6497671 8331 9772 0.852538 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EARS2 Arg6Gly R6G not reviewed Insufficiently evaluated not reviewed unknown Array 34 9532 0.00356693 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.62 - - 6 Y 1 N - - EBAG9 Asp64Asn D64N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - EBF2 Gly559Ser G559S not reviewed Insufficiently evaluated not reviewed unknown Array rs17054477 334 9884 0.033792 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EBI3 Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array rs4740 4184 10758 0.38892 41 0 55 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - EBNA1BP2 Asn290Ile N290I not reviewed Insufficiently evaluated not reviewed unknown Array rs11559312 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EBNA1BP2 Asn345Ile N345I not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EBNA1BP2 Arg223His R223H not reviewed Insufficiently evaluated not reviewed unknown Array rs7163 32 126 0.253968 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EBNA1BP2 Arg278His R278H not reviewed Insufficiently evaluated not reviewed unknown Array rs7163 2259 10758 0.209983 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EBNA1BP2 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EBNA1BP2 Arg278Cys R278C not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ECD Asp591Gly D591G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ECD Asp634Gly D634G not reviewed Insufficiently evaluated not reviewed unknown Array rs2271904 1002 10758 0.09314 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.557 - - 4 Y 0 N - - ECD Asp667Gly D667G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ECD Asn458Ser N458S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECD Asn501Ser N501S not reviewed Insufficiently evaluated not reviewed unknown Array rs36152134 1002 10758 0.09314 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ECD Asn534Ser N534S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECD Glu409Gln E409Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ECD Glu452Gln E452Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3736518 1718 10758 0.159695 29 0 33 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - ECD Glu485Gln E485Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ECD Arg45Gln R45Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3812619 1718 10758 0.159695 29 0 33 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ECE1 Pro414Thr P414T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - ECE1 Pro418Thr P418T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - ECE1 Pro427Thr P427T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - ECE1 Pro430Thr P430T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 4 Y 3 N - - ECE1 Thr325Ile T325I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 3 - 1 - - ECE1 Thr329Ile T329I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - ECE1 Thr338Ile T338I not reviewed Insufficiently evaluated not reviewed unknown Array rs1076669 570 10758 0.0529838 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 1 N - - ECE1 Thr341Ile T341I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 3 - 2 - 2 - - ECE2 Gly5Arg G5R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10716 0.000279955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ECE2 His101Tyr H101Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7633387 10522 10758 0.978063 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ECE2 Arg170Trp R170W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ECE2 Lys216Glu K216E not reviewed Insufficiently evaluated not reviewed unknown Array rs6767237 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECE2 Thr73Ile T73I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ECEL1 Arg702Gln R702Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - ECEL1 His328Tyr H328Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1529874 10278 10758 0.955382 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ECH1 Asp284Asn D284N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ECH1 Gly217Arg G217R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ECH1 Glu41Ala E41A not reviewed Insufficiently evaluated not reviewed unknown Array rs9419 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ECHDC2 Tyr190Stop Y190X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ECHDC2 Leu71Arg L71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ECHDC3 Ala69Thr A69T not reviewed Insufficiently evaluated not reviewed unknown Array rs4750090 9758 10758 0.907046 52 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ECHDC3 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs7910140 9773 10758 0.90844 48 0 89 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ECHDC3 Asp162Asn D162N not reviewed Insufficiently evaluated not reviewed unknown Array rs35986488 781 10758 0.0725971 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 - 3 - - ECHS1 Thr75Ile T75I not reviewed Insufficiently evaluated not reviewed unknown Array rs1049951 8586 10752 0.798549 50 0 82 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ECHS1 Val11Ala V11A not reviewed Insufficiently evaluated not reviewed unknown Array rs10466126 5823 9780 0.595399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ECM1 Thr130Met T130M not reviewed Insufficiently evaluated not reviewed unknown Array rs3737240 3170 10682 0.296761 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ECM1 Asp242Val D242V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ECM1 Asp367Val D367V not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ECM1 Gly290Ser G290S not reviewed Insufficiently evaluated not reviewed unknown Array rs13294 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ECM1 Gly415Ser G415S not reviewed Insufficiently evaluated not reviewed unknown Array rs13294 3693 10758 0.343279 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ECM2 Gln56Pro Q56P not reviewed Insufficiently evaluated not reviewed unknown Array rs10120210 7253 10758 0.674196 47 0 76 0 0 - - - - - - - - - - - - - - - - 0.891 - - 4 Y 1 N - - ECSCR Gln25Arg Q25R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECSIT Gly192Arg G192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - ECSIT Gly406Arg G406R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10720 9.3283e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 1 - 3 - - ECSIT Arg278Cys R278C not reviewed Insufficiently evaluated not reviewed unknown Array rs34803265 499 10758 0.0463841 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.835 - - 8 Y 1 N - - ECSIT Arg64Cys R64C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 8 Y 2 N - - ECT2L Arg53Lys R53K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ECT2L Ile146Thr I146T not reviewed Insufficiently evaluated not reviewed unknown Array 113 10024 0.0112729 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - 3 - 1 N - - ECT2L Leu292Phe L292F not reviewed Insufficiently evaluated not reviewed unknown Array rs73557265 1 9880 0.000101214 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.812 - - 0 - 1 N - - ECT2L Gly342Arg G342R not reviewed Insufficiently evaluated not reviewed unknown Array 60 9816 0.00611247 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ECT2L Glu351Lys E351K not reviewed Insufficiently evaluated not reviewed unknown Array rs73557274 236 9864 0.0239254 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ECT2L Trp440Gly W440G not reviewed Insufficiently evaluated not reviewed unknown Array 141 9620 0.014657 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - ECT2L Glu527Lys E527K not reviewed Insufficiently evaluated not reviewed unknown Array rs1529151 2558 9624 0.265794 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.565 - - 0 - 0 N - - EDA Ala347Thr A347T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - EDA Ala349Thr A349T pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 3 2 1 - - - 2 Y 0 - 3 - 1 - Y Y - - 0.98 Y Y 1 - Hypohidrotic Ectodermal Dysplasia, X-Linked 3 18 0 40 INF 6 N 6 - - This variant was found in 2 out of 18 unrelated individuals with X-linked hypohidrotic ectodermal dysplasia, another reports it in one of three patients. Two of these cases were de novo mutations, which seems to support this variant as being pathogenic. The variant was not found in any of 40 control chromosomes. EDA2R Thr129Ala T129A not reviewed Insufficiently evaluated not reviewed unknown Array rs1385698 8059 8756 0.920397 49 0 92 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EDA2R Pro112Ser P112S not reviewed Insufficiently evaluated not reviewed unknown Array 24 8761 0.00273941 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - EDA2R Arg57Lys R57K not reviewed Insufficiently evaluated not reviewed unknown Array rs1385699 4892 8761 0.558384 34 0 66 0 0 - - - - - - - - - - - - - - - - 0.047 - - -3 - 0 N - - EDA2R Tyr8His Y8H not reviewed Insufficiently evaluated not reviewed unknown Array 63 8761 0.00719096 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - EDAR Val370Ala V370A benign Low clinical importance, Uncertain benign unknown Array rs3827760 114 10758 0.0105968 10 0 15 4 4 1 Y 1 Y 4 - 0 Y - - - - Y Y - - 0.485 Y Y 2 - 5 N 8 0 0 Associated with thicker hair, common in Chinese and Japanese individuals and thought to be Asian-specific. EDAR Met107Val M107V not reviewed Insufficiently evaluated not reviewed unknown Array rs61761321 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.364 Y Y 0 - 4 - 1 - - EDARADD Met9Ile M9I not reviewed Insufficiently evaluated not reviewed unknown Array rs966365 7972 10758 0.74103 52 0 84 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - EDC4 Ser275Gly S275G not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - EDC4 Gly491Asp G491D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 1 - 1 - - EDC4 Ser855Arg S855R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - EDC4 Arg1004Leu R1004L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10690 9.3545e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - EDEM2 Arg473Gln R473Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - EDEM2 Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6060248 190 10758 0.0176613 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 2 - - EDEM2 Ala419Thr A419T not reviewed Insufficiently evaluated not reviewed unknown Array rs3746429 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EDEM2 Ala456Thr A456T not reviewed Insufficiently evaluated not reviewed unknown Array rs3746429 1358 10758 0.126232 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EDEM2 His19Arg H19R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EDEM3 Ile820Ser I820S not reviewed Insufficiently evaluated not reviewed unknown Array rs9425343 3094 10756 0.287653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - EDF1 Arg137Gln R137Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EDN1 Cys15Phe C15F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 4 Y 0 N - - EDN1 Lys198Asn K198N pathogenic Insufficiently evaluated pathogenic unknown Array rs5370 2220 10758 0.206358 19 0 21 1 1 1 Y - - - - - - - - - - - Y - Y 0.002 - - 1 - 2 N - - Associated with lower HDL cholesterol levels in women. EDN3 Val125Leu V125L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.968 Y Y 0 - 4 N - - EEA1 Ala1009Ser A1009S not reviewed Insufficiently evaluated not reviewed unknown Array rs61756482 258 10758 0.0239822 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - EEA1 Met905Leu M905L not reviewed Insufficiently evaluated not reviewed unknown Array rs73362428 184 10744 0.0171258 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EEA1 Lys810Gln K810Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10745623 6374 10746 0.593151 45 0 70 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - EED Ser67Arg S67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - EEF1D Arg288Trp R288W not reviewed Insufficiently evaluated not reviewed unknown Array 21 10520 0.0019962 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EEF1D Gly266Ser G266S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10014 0.00129818 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EEF1D Asp189Glu D189E not reviewed Insufficiently evaluated not reviewed unknown Array rs6985081 9942 10696 0.929506 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EEF1D Gln135Arg Q135R not reviewed Insufficiently evaluated not reviewed unknown Array rs34365735 337 10746 0.0313605 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EEF1D Ser116Leu S116L not reviewed Insufficiently evaluated not reviewed unknown Array rs35331982 379 10736 0.0353018 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EEF1D Ala99Val A99V not reviewed Insufficiently evaluated not reviewed unknown Array rs3812447 677 10748 0.0629885 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EEF1D Gly69Ser G69S not reviewed Insufficiently evaluated not reviewed unknown Array rs34547530 374 10734 0.0348426 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EEF1E1 Leu44Val L44V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EEF1G Phe40Ser F40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EEF1G Phe40Tyr F40Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EEF2K His23Arg H23R not reviewed Insufficiently evaluated not reviewed unknown Array rs9935059 1770 10758 0.164529 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EEF2K Pro75Ala P75A not reviewed Insufficiently evaluated not reviewed unknown Array rs17841292 639 10758 0.0593977 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 1 N - - EEF2K Gln361Arg Q361R not reviewed Insufficiently evaluated not reviewed unknown Array rs4783453 10756 10758 0.999814 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EEF2K Ala605Thr A605T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - EEFSEC Leu27Val L27V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10322 0.00145321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EEFSEC Pro40Gln P40Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10440 0.00191571 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EEFSEC Ala435Val A435V not reviewed Insufficiently evaluated not reviewed unknown Array rs34326479 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EEPD1 Ser343Asn S343N not reviewed Insufficiently evaluated not reviewed unknown Array rs196586 10134 10758 0.941997 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EFCAB2 Thr51Met T51M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFCAB3 Tyr338Cys Y338C not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 2 - - EFCAB3 Tyr390Cys Y390C not reviewed Insufficiently evaluated not reviewed unknown Array rs78388447 593 10758 0.0551218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EFCAB4A Arg77Gln R77Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7126805 6571 10264 0.640199 46 0 66 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - EFCAB4A Lys153Glu K153E not reviewed Insufficiently evaluated not reviewed unknown Array rs28558789 6852 10456 0.655318 54 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EFCAB4A Gly173Ser G173S not reviewed Insufficiently evaluated not reviewed unknown Array rs35567200 431 9556 0.0451026 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFCAB4A Ser248Ile S248I not reviewed Insufficiently evaluated not reviewed unknown Array rs4075289 5596 8162 0.685616 28 0 45 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - EFCAB4B Thr712Ala T712A not reviewed Insufficiently evaluated not reviewed unknown Array rs11062745 412 3234 0.127396 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EFCAB4B Arg650Gln R650Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EFCAB4B His448Arg H448R not reviewed Insufficiently evaluated not reviewed unknown Array rs7138453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB4B Thr281Asn T281N not reviewed Insufficiently evaluated not reviewed unknown Array rs71534241 309 10758 0.0287228 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EFCAB4B His212Gln H212Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36030417 1472 10758 0.136828 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.568 - - -1 - 0 N - - EFCAB4B Glu154Lys E154K not reviewed Insufficiently evaluated not reviewed unknown Array rs242018 2639 10758 0.245306 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - EFCAB4B Ala128Val A128V not reviewed Insufficiently evaluated not reviewed unknown Array rs242017 2720 10758 0.252835 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - EFCAB4B Ala98Thr A98T not reviewed Insufficiently evaluated not reviewed unknown Array rs17836273 1291 10758 0.120004 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EFCAB4B Arg7Gly R7G not reviewed Insufficiently evaluated not reviewed unknown Array rs9788233 1046 10756 0.097248 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 1 N - - EFCAB5 Tyr161Stop Y161X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFCAB5 Tyr217Stop Y217X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFCAB5 Leu181Val L181V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EFCAB5 Leu237Val L237V not reviewed Insufficiently evaluated not reviewed unknown Array rs9897794 4424 9548 0.463343 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EFCAB5 Ile222Lys I222K not reviewed Insufficiently evaluated not reviewed unknown Array rs4795524 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFCAB5 Ile278Lys I278K not reviewed Insufficiently evaluated not reviewed unknown Array rs4795524 9474 9682 0.978517 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EFCAB5 Thr1480Ala T1480A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EFCAB6 Glu1071Lys E1071K not reviewed Insufficiently evaluated not reviewed unknown Array rs61995890 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EFCAB6 Glu1223Lys E1223K not reviewed Insufficiently evaluated not reviewed unknown Array rs61995890 1535 10758 0.142685 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - EFCAB6 Ala1059Val A1059V not reviewed Insufficiently evaluated not reviewed unknown Array rs9614382 8012 10758 0.744748 54 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EFCAB6 Ala907Val A907V not reviewed Insufficiently evaluated not reviewed unknown Array rs9614382 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFCAB6 Arg648Trp R648W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - EFCAB6 Arg800Trp R800W not reviewed Insufficiently evaluated not reviewed unknown Array rs6006514 410 10758 0.0381112 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - EFCAB6 Asp628Asn D628N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - EFCAB6 Asp780Asn D780N not reviewed Insufficiently evaluated not reviewed unknown Array rs12159591 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 1 - 2 - - EFCAB6 Thr528Ala T528A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB6 Thr680Ala T680A not reviewed Insufficiently evaluated not reviewed unknown Array rs137731 281 10758 0.0261201 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - EFCAB6 His248Tyr H248Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFCAB6 His400Tyr H400Y not reviewed Insufficiently evaluated not reviewed unknown Array rs137794 1239 10758 0.11517 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - EFCAB6 Ser232Ala S232A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - EFCAB6 Ser384Ala S384A not reviewed Insufficiently evaluated not reviewed unknown Array rs6006438 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 1 - 1 - - EFCAB6 Thr199Ala T199A not reviewed Insufficiently evaluated not reviewed unknown Array rs5764214 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB6 Thr351Ala T351A not reviewed Insufficiently evaluated not reviewed unknown Array rs5764214 5188 10758 0.482246 37 0 41 0 0 - - - - - - - - - - - - - - - - 0.071 - - 1 - 0 N - - EFCAB6 Val14Ala V14A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFCAB6 Val166Ala V166A not reviewed Insufficiently evaluated not reviewed unknown Array rs16990981 400 10754 0.0371955 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.123 - - 2 - 0 N - - EFCAB7 Ser186Gly S186G not reviewed Insufficiently evaluated not reviewed unknown Array rs9436246 105 10758 0.00976018 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - EFCAB7 Thr248Ile T248I not reviewed Insufficiently evaluated not reviewed unknown Array rs6693255 1435 10758 0.133389 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - EFCAB7 Met262Thr M262T not reviewed Insufficiently evaluated not reviewed unknown Array rs6657480 2899 10758 0.269474 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EFCAB7 Arg375Lys R375K not reviewed Insufficiently evaluated not reviewed unknown Array rs2273367 1394 10758 0.129578 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.172 - - -3 - 0 N - - EFCAB7 Gly526Arg G526R not reviewed Insufficiently evaluated not reviewed unknown Array rs74078273 234 10756 0.0217553 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - EFCAB8 Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EFCAB8 Arg236Pro R236P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EFCAB8 Arg286Cys R286C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EFCAB8 Arg368His R368H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB8 Asn474Asp N474D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFCAB8 Arg647Trp R647W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EFCAB8 Ser681Leu S681L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFCAB8 Glu836Gly E836G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFCAB8 Gln965Stop Q965X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFEMP2 Arg409Gln R409Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.103 - - 0 - 0 N - - EFEMP2 Arg264Cys R264C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 - - 8 Y 2 N - - EFEMP2 Ile259Val I259V not reviewed Insufficiently evaluated not reviewed unknown Array rs601314 9574 10758 0.889942 55 0 100 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 0 N - - EFEMP2 Gly93Asp G93D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - EFHB Thr771Ile T771I not reviewed Insufficiently evaluated not reviewed unknown Array 413 10758 0.03839 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EFHB Ala749Thr A749T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFHB Gln663Pro Q663P not reviewed Insufficiently evaluated not reviewed unknown Array rs9868950 481 10758 0.0447109 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EFHB Met580Lys M580K not reviewed Insufficiently evaluated not reviewed unknown Array rs76305623 1291 10758 0.120004 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - EFHB Cys517Ser C517S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EFHB Thr382Ile T382I not reviewed Insufficiently evaluated not reviewed unknown Array rs2929366 7697 10758 0.715468 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EFHB Val331Ile V331I not reviewed Insufficiently evaluated not reviewed unknown Array rs2931403 8433 10756 0.784028 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EFHB Pro269Ser P269S not reviewed Insufficiently evaluated not reviewed unknown Array rs13078867 2197 10758 0.20422 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EFHB Gly99Val G99V not reviewed Insufficiently evaluated not reviewed unknown Array rs17795400 2111 10158 0.207816 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EFHB Ile5Thr I5T not reviewed Insufficiently evaluated not reviewed unknown Array rs55746682 300 9786 0.030656 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EFHC1 Arg159Trp R159W not reviewed Insufficiently evaluated not reviewed unknown Array rs3804506 1072 10758 0.0996468 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.057 Y - 7 Y 2 - 9 - - EFHC1 Arg159Gly R159G not reviewed Insufficiently evaluated not reviewed unknown Array rs3804506 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.035 Y - 6 Y 1 N - - EFHC1 Asp210Val D210V not reviewed Insufficiently evaluated not reviewed unknown Array rs73740379 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 8 Y 3 N - - EFHC1 Val300Leu V300L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - EFHC1 Glu357Lys E357K not reviewed Insufficiently evaluated not reviewed unknown Array rs505760 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - EFHC1 Met448Thr M448T not reviewed Insufficiently evaluated not reviewed unknown Array rs1266787 938 10758 0.0871909 16 0 17 0 0 - - - - - - - - - - - - Y - - - 0.578 Y - 2 - 2 - 7 - - EFHD1 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array 127 3150 0.0403175 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - EFHD1 Lys186Arg K186R not reviewed Insufficiently evaluated not reviewed unknown Array rs11550699 3248 10758 0.301915 24 0 25 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - EFNA1 Lys31Arg K31R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -3 - 0 N - - EFNA1 Asp137Val D137V not reviewed Insufficiently evaluated not reviewed unknown Array rs4745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EFNA1 Asp159Val D159V not reviewed Insufficiently evaluated not reviewed unknown Array rs4745 4348 10758 0.404164 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EFNA3 Val190Met V190M not reviewed Insufficiently evaluated not reviewed unknown Array rs17723260 1130 10754 0.105077 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.324 - - 0 - 0 N - - EFNB1 Val189Ala V189A not reviewed Insufficiently evaluated not reviewed unknown Array rs16989105 172 8760 0.0196347 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - EFR3A Asn365Asp N365D not reviewed Insufficiently evaluated not reviewed unknown Array rs1051221 5427 10758 0.504462 41 0 55 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - EFS Val361Met V361M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - EFS Val454Met V454M not reviewed Insufficiently evaluated not reviewed unknown Array rs2231812 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.785 - - 0 - 2 - 1 - - EFS Ser172Phe S172F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EFS Ser265Phe S265F not reviewed Insufficiently evaluated not reviewed unknown Array rs2231806 1291 10744 0.12016 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.514 - - 5 Y 0 N - - EFS Arg175Trp R175W not reviewed Insufficiently evaluated not reviewed unknown Array rs2231805 1544 10182 0.15164 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.315 - - 7 Y 0 N - - EFS Arg82Trp R82W not reviewed Insufficiently evaluated not reviewed unknown Array rs2231805 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EFS Pro87Leu P87L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10742 9.3092e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 1 - 9 - - EFS Pro67Ser P67S not reviewed Insufficiently evaluated not reviewed unknown Array 63 10756 0.00585719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 3 - 10 - - EFS Thr7Ala T7A not reviewed Insufficiently evaluated not reviewed unknown Array rs2231798 4954 10730 0.461696 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EFTUD1 Val1010Ile V1010I not reviewed Insufficiently evaluated not reviewed unknown Array 62 9774 0.00634336 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.246 - - -4 - 1 N - - EFTUD1 Val959Ile V959I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EFTUD1 Ala940Thr A940T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFTUD1 Ala991Thr A991T not reviewed Insufficiently evaluated not reviewed unknown Array 618 10062 0.0614192 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.146 - - 1 - 0 N - - EFTUD1 Pro830Thr P830T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EFTUD1 Pro881Thr P881T not reviewed Insufficiently evaluated not reviewed unknown Array 61 9662 0.00631339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - EFTUD1 Lys660Arg K660R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EFTUD1 Lys711Arg K711R not reviewed Insufficiently evaluated not reviewed unknown Array rs2292071 1239 9626 0.128714 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - EFTUD1 Ile566Val I566V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EFTUD1 Ile617Val I617V not reviewed Insufficiently evaluated not reviewed unknown Array rs1128431 1292 9746 0.132567 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.882 - - -4 - 1 N - - EFTUD1 Glu427Asp E427D not reviewed Insufficiently evaluated not reviewed unknown Array rs2292189 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFTUD1 Glu478Asp E478D not reviewed Insufficiently evaluated not reviewed unknown Array rs2292189 7626 9724 0.784245 39 0 70 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EFTUD1 Ile45Thr I45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - EFTUD2 Gln470Glu Q470E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFTUD2 Gln505Glu Q505E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - -2 - 0 N - - EGF His151Tyr H151Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9991664 235 10754 0.0218523 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 5 - - EGF Asp186His D186H not reviewed Insufficiently evaluated not reviewed unknown Array rs28553469 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 2 - - EGF Arg431Lys R431K not reviewed Insufficiently evaluated not reviewed unknown Array rs11568943 1315 10758 0.122235 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - EGF Ile597Val I597V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 1 - 1 - - EGF Met708Ile M708I not reviewed Insufficiently evaluated not reviewed unknown Array rs2237051 5672 10758 0.527236 45 0 67 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EGF Asp784Val D784V not reviewed Insufficiently evaluated not reviewed unknown Array rs11569017 448 10758 0.0416434 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - EGF Met842Thr M842T not reviewed Insufficiently evaluated not reviewed unknown Array rs11569046 382 10758 0.0355085 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EGF Glu920Val E920V not reviewed Insufficiently evaluated not reviewed unknown Array rs4698803 9157 10758 0.85118 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - EGF Val1040Met V1040M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EGF Ser1050Arg S1050R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - EGFL6 Asp535Asn D535N not reviewed Insufficiently evaluated not reviewed unknown Array rs16979033 525 8761 0.0599247 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 1 N - - EGFL7 Val153Ile V153I not reviewed Insufficiently evaluated not reviewed unknown Array rs2297538 2269 10728 0.211503 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.246 - - -4 - 0 N - - EGFL8 Arg86Lys R86K not reviewed Insufficiently evaluated not reviewed unknown Array rs3096697 2189 10758 0.203476 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.013 - - -3 - 0 N - - EGFLAM Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array rs2561111 823 10758 0.0765012 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 1 N - - EGFLAM Trp229Arg W229R not reviewed Insufficiently evaluated not reviewed unknown Array rs1465567 2847 10758 0.26464 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - EGFLAM Arg12Cys R12C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EGFLAM Arg246Cys R246C not reviewed Insufficiently evaluated not reviewed unknown Array 256 10758 0.0237962 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EGFLAM Thr239Met T239M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EGFLAM Thr473Met T473M not reviewed Insufficiently evaluated not reviewed unknown Array rs16903965 1001 10758 0.093047 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.579 - - 2 - 0 N - - EGFLAM His342Asn H342N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EGFLAM His576Asn H576N not reviewed Insufficiently evaluated not reviewed unknown Array rs6897179 1272 10758 0.118238 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - EGFLAM Glu170Asp E170D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EGFLAM Glu570Asp E570D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EGFLAM Glu804Asp E804D not reviewed Insufficiently evaluated not reviewed unknown Array rs35767836 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - EGFR Arg521Lys R521K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2227983 2189 10758 0.203476 13 0 15 4 4 1 Y - - 3 - - - - - 2 Y Y - - Y - Y - -3 - 3 N 10 - - This variant improves tretability and reduces risk to develop CRC colorectal cancer. EGFR Ser703Phe S703F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - EGLN1 Lys192Arg K192R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10710 9.337e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EGLN1 Gln157His Q157H not reviewed Insufficiently evaluated not reviewed unknown Array 139 9464 0.0146872 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - -1 - 1 N - - EGLN1 Cys127Ser C127S not reviewed Insufficiently evaluated not reviewed unknown Array rs12097901 128 2104 0.0608365 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.596 - - 3 - 0 N - - EGLN1 Gln47Arg Q47R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - EHBP1 Thr538Lys T538K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - EHBP1 Thr573Lys T573K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - EHBP1 Arg610His R610H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EHBP1 Arg645His R645H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 1 - 2 N - - EHBP1 Lys720Gln K720Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EHBP1 Lys755Gln K755Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17432615 1116 10752 0.103795 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - EHBP1L1 Val133Leu V133L not reviewed Insufficiently evaluated not reviewed unknown Array rs1194100 10517 10524 0.999335 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EHBP1L1 Arg307Gln R307Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3741380 4277 9428 0.453649 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - EHBP1L1 Val538Gly V538G not reviewed Insufficiently evaluated not reviewed unknown Array rs6591182 4000 9608 0.41632 42 0 53 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 1 N - - EHBP1L1 Asp569Val D569V not reviewed Insufficiently evaluated not reviewed unknown Array rs1194099 9166 9656 0.949254 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EHBP1L1 Tyr1086Cys Y1086C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10552 9.4768e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - EHD3 Asp436Glu D436E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EHD4 Val154Ile V154I not reviewed Insufficiently evaluated not reviewed unknown Array rs11549015 1307 10752 0.121559 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EHF Ala96Val A96V not reviewed Insufficiently evaluated not reviewed unknown Array rs9804460 240 10758 0.022309 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 10 - - EHF Leu209Stop L209X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EHF Trp210Arg W210R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - EHHADH Gln685Lys Q685K not reviewed Insufficiently evaluated not reviewed unknown Array rs11919970 1921 10758 0.178565 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EHHADH Gly530Ser G530S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EHHADH Thr335Ala T335A not reviewed Insufficiently evaluated not reviewed unknown Array rs58044717 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EHHADH Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array rs2302819 493 10758 0.0458264 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EHMT1 Ala43Gly A43G not reviewed Insufficiently evaluated not reviewed unknown Array 234 10754 0.0217593 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - EHMT1 Pro176Ser P176S not reviewed Insufficiently evaluated not reviewed unknown Array 104 10674 0.0097433 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - EHMT2 Ser58Phe S58F not reviewed Insufficiently evaluated not reviewed unknown Array 98 7518 0.0130354 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - EHMT2 Thr55Asn T55N not reviewed Insufficiently evaluated not reviewed unknown Array rs7887 1834 7520 0.243883 15 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EI24 His286Arg H286R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EI24 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EID2 Glu60Ala E60A not reviewed Insufficiently evaluated not reviewed unknown Array rs3746086 66 1784 0.0369955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - EID2 Pro54Arg P54R not reviewed Insufficiently evaluated not reviewed unknown Array 4 3440 0.00116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EID2 Gly43Glu G43E not reviewed Insufficiently evaluated not reviewed unknown Array 143 6094 0.0234657 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EID2 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array rs7252027 1288 8050 0.16 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EIF1AD Ser159Asn S159N not reviewed Insufficiently evaluated not reviewed unknown Array rs2276017 482 10758 0.0448039 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 1 - 4 - - EIF1AD Arg149Cys R149C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - EIF1AD Arg48Cys R48C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - EIF2A Thr97Ser T97S not reviewed Insufficiently evaluated not reviewed unknown Array rs1132979 2845 9642 0.295063 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EIF2AK1 Lys557Arg K557R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EIF2AK1 Lys558Arg K558R not reviewed Insufficiently evaluated not reviewed unknown Array rs2640 427 10758 0.0396914 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.974 - - -3 - 2 N - - EIF2AK1 Ala232Val A232V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - EIF2AK1 Arg134Lys R134K not reviewed Insufficiently evaluated not reviewed unknown Array rs55744865 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 1 - 2 - - EIF2AK3 Ala704Ser A704S not reviewed Insufficiently evaluated not reviewed unknown Array rs1805165 8630 10758 0.802194 52 0 89 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - EIF2AK3 Ile586Leu I586L not reviewed Insufficiently evaluated not reviewed unknown Array 115 10752 0.0106957 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - EIF2AK3 Asp566Val D566V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10750 0.00418605 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - EIF2AK3 Gln166Arg Q166R not reviewed Insufficiently evaluated not reviewed unknown Array rs13045 7876 10758 0.732106 51 0 81 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - EIF2AK3 Ser136Cys S136C not reviewed Insufficiently evaluated not reviewed unknown Array rs867529 2127 10758 0.197713 19 0 23 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 4 - - EIF2AK4 Ile441Leu I441L not reviewed Insufficiently evaluated not reviewed unknown Array rs2291627 1227 10062 0.121944 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - EIF2AK4 Ser492Asn S492N not reviewed Insufficiently evaluated not reviewed unknown Array rs73388508 35 10060 0.00347912 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - EIF2AK4 Glu556Gly E556G not reviewed Insufficiently evaluated not reviewed unknown Array rs2307105 9258 9814 0.943346 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EIF2AK4 Gly1306Cys G1306C not reviewed Insufficiently evaluated not reviewed unknown Array rs35602605 1318 9744 0.135263 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.903 - - 7 Y 1 N - - EIF2B2 Leu207Phe L207F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - EIF2B5 Asp476Glu D476E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - EIF2B5 Ile587Val I587V not reviewed Insufficiently evaluated not reviewed unknown Array rs843358 3534 10758 0.3285 28 0 35 0 0 1 Y - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - EIF2C1 Phe21Leu F21L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - EIF2C1 His619Pro H619P not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - EIF2C2 Tyr225Stop Y225X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EIF2C2 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - EIF2C2 Lys98Glu K98E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - EIF2C3 Tyr105Ser Y105S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EIF2C3 Tyr339Ser Y339S not reviewed Insufficiently evaluated not reviewed unknown Array 1079 10758 0.100297 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - EIF2S2 Glu177Asp E177D not reviewed Insufficiently evaluated not reviewed unknown Array rs11554571 84 10758 0.00780814 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EIF3A Asp993Glu D993E not reviewed Insufficiently evaluated not reviewed unknown Array rs532138 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 3 - 2 - - EIF3B Ser64Pro S64P not reviewed Insufficiently evaluated not reviewed unknown Array rs9690787 1891 2370 0.79789 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EIF3B Val163Leu V163L not reviewed Insufficiently evaluated not reviewed unknown Array 48 8488 0.00565504 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF3C Arg612Ser R612S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF3CL Arg612Ser R612S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF3D Gln94Glu Q94E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - -2 - 2 N - - EIF3F Pro39Leu P39L not reviewed Insufficiently evaluated not reviewed unknown Array rs1043738 296 8952 0.0330652 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - EIF3J Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EIF3J Ala141Thr A141T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303578 824 10756 0.0766084 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EIF3L Thr503Asn T503N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - EIF4A3 Phe254Leu F254L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - EIF4B Asn552Thr N552T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EIF4E1B Lys21Glu K21E not reviewed Insufficiently evaluated not reviewed unknown Array rs73806058 218 10310 0.0211445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Thr161Ala T161A not reviewed Insufficiently evaluated not reviewed unknown Array rs13319149 10729 10754 0.997675 51 0 102 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - EIF4G1 Thr74Ala T74A not reviewed Insufficiently evaluated not reviewed unknown Array rs13319149 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EIF4G1 Met236Val M236V not reviewed Insufficiently evaluated not reviewed unknown Array rs2178403 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Met268Val M268V not reviewed Insufficiently evaluated not reviewed unknown Array rs2178403 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Met345Val M345V not reviewed Insufficiently evaluated not reviewed unknown Array rs2178403 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Met432Val M432V not reviewed Insufficiently evaluated not reviewed unknown Array rs2178403 8859 10758 0.82348 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EIF4G1 Ala272Glu A272E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF4G1 Ala304Glu A304E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF4G1 Ala381Glu A381E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 1 N - - EIF4G1 Ala468Glu A468E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF4G1 Ile610Val I610V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EIF4G1 Ile642Val I642V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EIF4G1 Ile719Val I719V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EIF4G1 Ile806Val I806V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - EIF4G1 Arg1020His R1020H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - EIF4G1 Arg1052His R1052H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - EIF4G1 Arg1129His R1129H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - EIF4G1 Arg1216His R1216H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10734 0.00363331 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.726 - - 1 - 2 - 1 - - EIF4G1 Leu1037Pro L1037P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EIF4G1 Leu1069Pro L1069P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.26 - - 7 Y 1 N - - EIF4G1 Leu1146Pro L1146P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.26 - - 7 Y 1 N - - EIF4G1 Leu1233Pro L1233P not reviewed Insufficiently evaluated not reviewed unknown Array rs2230570 454 10758 0.0422012 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - EIF4G1 Asn1061Ser N1061S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Asn1093Ser N1093S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Asn1170Ser N1170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4G1 Asn1257Ser N1257S not reviewed Insufficiently evaluated not reviewed unknown Array rs73053766 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.229 - - 0 - 1 N - - EIF4G2 Gln453Stop Q453X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EIF4G3 Ala1085Val A1085V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.674 - - 2 - 1 N - - EIF5A2 Val147Leu V147L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EIF5B Lys522Thr K522T not reviewed Insufficiently evaluated not reviewed unknown Array rs7558074 6230 9886 0.630184 51 0 71 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ELAC1 Met355Val M355V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 3 - 2 - - ELAC2 Ser217Leu S217L pathogenic Low clinical importance, Uncertain pathogenic other Array rs4792311 2942 10758 0.273471 40 0 42 4 4 1 Y - - 3 - 0 Y 2 Y 0 Y Y Y - - 0.025 Y - 6 Y Prostate cancer 178 1116 242 1262 0.832 3 N 8 0 0 Reported to be associated with increased susceptibility to prostate cancer, but later studies weaken the hypothesis. Xu et al.'s meta-analysis concludes that there is a small but significant increased risk (OR = 1.13). Assuming a lifetime risk of 16% for prostate cancer we calculate this leads to an increased risk of ~1.5% (17.5% total). ELANE Gly164Arg G164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - ELAVL4 Pro270Ser P270S not reviewed Insufficiently evaluated not reviewed unknown Array rs2494876 8103 10758 0.753207 44 0 72 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ELF1 Thr319Ser T319S not reviewed Insufficiently evaluated not reviewed unknown Array rs1056820 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ELF1 Thr343Ser T343S not reviewed Insufficiently evaluated not reviewed unknown Array rs1056820 5573 10758 0.518033 32 0 47 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ELF1 Asn58Ser N58S not reviewed Insufficiently evaluated not reviewed unknown Array rs7799 5800 10758 0.539134 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ELF2 Ala323Val A323V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ELF2 Ala371Val A371V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ELF2 Ser3Thr S3T not reviewed Insufficiently evaluated not reviewed unknown Array rs62623564 437 10758 0.0406209 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - ELF3 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array rs58166377 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELF3 Arg126Gln R126Q not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ELF3 Gly162Asp G162D not reviewed Insufficiently evaluated not reviewed unknown Array rs55729978 684 10756 0.0635924 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - ELK1 Ser183Asn S183N not reviewed Insufficiently evaluated not reviewed unknown Array rs1059579 1154 8748 0.131916 14 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ELK1 Pro123Ser P123S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - ELL2 Asp328Glu D328E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10724 0.000559492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ELL2 Ala298Thr A298T not reviewed Insufficiently evaluated not reviewed unknown Array rs3815768 3136 10758 0.291504 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ELL2 Pro293Thr P293T not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ELL3 Gln11Glu Q11E not reviewed Insufficiently evaluated not reviewed unknown Array rs2277531 1696 10758 0.15765 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - ELMO2 Ile558Met I558M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - ELMO3 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array 282 10376 0.0271781 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - ELMO3 Lys66Gln K66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12923138 6083 10386 0.585692 33 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ELMO3 Asn148Asp N148D not reviewed Insufficiently evaluated not reviewed unknown Array rs8058861 1791 10090 0.177502 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ELMO3 Arg351Gln R351Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELMO3 Arg362Trp R362W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10274 0.00184933 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ELMO3 Arg369Cys R369C not reviewed Insufficiently evaluated not reviewed unknown Array rs33948247 445 10320 0.0431202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ELMOD3 Arg66Cys R66C not reviewed Insufficiently evaluated not reviewed unknown Array rs7564372 744 10758 0.0691578 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 1 N - - ELMOD3 Ser105Gly S105G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - ELMOD3 Glu236Lys E236K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 0 - 1 N - - ELN Gly412Ser G412S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ELN Gly422Ser G422S not reviewed Insufficiently evaluated not reviewed unknown Array rs2071307 3570 10758 0.331846 21 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 4 - - ELN Gly427Ser G427S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - ELN Gly552Arg G552R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ELN Gly562Arg G562R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ELN Gly567Arg G567R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ELN Gly581Arg G581R benign Low clinical importance, Uncertain benign unknown Array rs17855988 784 10758 0.072876 5 0 5 0 0 ! Y - - 4 Y - - - - - - Y - - - - Y Y 6 Y 3 Y 0 0 Probably a benign SNP, not rare (4.8% allele frequency in GET-Evidence data). ELN Gly586Arg G586R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ELOVL4 Met299Val M299V not reviewed Insufficiently evaluated not reviewed unknown Array rs3812153 1611 10758 0.149749 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 10 - - ELOVL4 Glu272Gln E272Q not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ELP2 Thr128Pro T128P not reviewed Insufficiently evaluated not reviewed unknown Array rs1785934 3981 10758 0.37005 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ELP2 Val305Met V305M not reviewed Insufficiently evaluated not reviewed unknown Array rs1785928 3987 10758 0.370608 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ELP2 His359Arg H359R not reviewed Insufficiently evaluated not reviewed unknown Array rs16967474 547 10758 0.0508459 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - ELP2 Ile597Val I597V not reviewed Insufficiently evaluated not reviewed unknown Array rs73428967 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.73 - - -4 - 1 N - - ELP2 Asn709Ser N709S not reviewed Insufficiently evaluated not reviewed unknown Array rs73428987 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELP2 Ala741Val A741V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - ELP2 Glu795Gly E795G not reviewed Insufficiently evaluated not reviewed unknown Array rs12607773 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ELP4 Arg407Leu R407L not reviewed Insufficiently evaluated not reviewed unknown Array 79 9858 0.0080138 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ELSPBP1 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array rs62129078 1731 10758 0.160904 17 0 16 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - ELSPBP1 Arg73Cys R73C not reviewed Insufficiently evaluated not reviewed unknown Array rs34129198 1810 10758 0.168247 19 0 18 0 0 - - - - - - - - - - - - - - - - 0.06 - - 8 Y 0 N - - ELSPBP1 Cys100Trp C100W not reviewed Insufficiently evaluated not reviewed unknown Array rs3745751 1034 10758 0.0961145 16 0 16 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - ELSPBP1 Asp170Asn D170N not reviewed Insufficiently evaluated not reviewed unknown Array rs35362679 519 10758 0.0482432 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.792 - - -1 - 1 N - - ELSPBP1 Phe186Ser F186S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ELSPBP1 Glu199Lys E199K not reviewed Insufficiently evaluated not reviewed unknown Array rs2303690 6269 10758 0.582729 52 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ELSPBP1 Asp215Asn D215N not reviewed Insufficiently evaluated not reviewed unknown Array rs6509358 430 10758 0.0399703 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - ELTD1 Ala620Gly A620G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275902 2815 9944 0.283085 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ELTD1 Val300Leu V300L not reviewed Insufficiently evaluated not reviewed unknown Array rs12754818 5689 9432 0.603159 42 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMB Gln327Stop Q327X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMB Ser93Cys S93C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - EME1 Ile49Val I49V not reviewed Insufficiently evaluated not reviewed unknown Array rs9896405 538 10758 0.0500093 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - EME1 Glu69Asp E69D not reviewed Insufficiently evaluated not reviewed unknown Array rs3760413 9915 10758 0.92164 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EME1 Lys137Gln K137Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - EME1 Pro138His P138H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 5 Y 2 N - - EME1 Ile350Thr I350T not reviewed Insufficiently evaluated not reviewed unknown Array rs12450550 2151 10758 0.199944 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.292 - - 3 - 0 N - - EME1 Ala466Pro A466P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - EME1 Arg533Cys R533C not reviewed Insufficiently evaluated not reviewed unknown Array rs61023979 245 10758 0.0227737 2 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - EME1 Arg552Cys R552C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745952 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - EME2 Asp35Asn D35N not reviewed Insufficiently evaluated not reviewed unknown Array 2 7852 0.000254712 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - -1 - 3 - 1 - - EME2 Gly226Arg G226R not reviewed Insufficiently evaluated not reviewed unknown Array rs3803571 206 10758 0.0191485 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EME2 Arg415His R415H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753376 208 10688 0.0194611 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - EMG1 Ser42Arg S42R not reviewed Insufficiently evaluated not reviewed unknown Array rs11428482 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMID1 Ala109Gly A109G not reviewed Insufficiently evaluated not reviewed unknown Array rs743920 3434 10758 0.319204 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EMID1 Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3950176 1446 10758 0.134412 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMID2 Pro425Leu P425L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EMILIN1 Gln149Arg Q149R not reviewed Insufficiently evaluated not reviewed unknown Array rs2736976 10477 10744 0.975149 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMILIN1 Gln149Pro Q149P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 4 Y 1 - 5 - - EMILIN1 Ser769Gly S769G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.809 - - 2 - 1 N - - EMILIN2 Thr197Met T197M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMILIN2 Pro903Ser P903S not reviewed Insufficiently evaluated not reviewed unknown Array rs56288451 841 10758 0.0781744 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EMILIN3 Ala611Gly A611G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739314 272 10758 0.0252835 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.669 - - 1 - 1 N - - EMILIN3 Ser532Asn S532N not reviewed Insufficiently evaluated not reviewed unknown Array rs2235592 2536 10756 0.235775 27 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMILIN3 Arg500Trp R500W not reviewed Insufficiently evaluated not reviewed unknown Array rs61739310 717 10758 0.0666481 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 1 N - - EMILIN3 Ala81Thr A81T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - EML1 Ala377Val A377V not reviewed Insufficiently evaluated not reviewed unknown Array rs34198557 1703 10758 0.158301 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - EML1 Ala396Val A396V not reviewed Insufficiently evaluated not reviewed unknown Array rs34198557 30 128 0.234375 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EML1 Ser556Pro S556P not reviewed Insufficiently evaluated not reviewed unknown Array rs2250718 7574 10758 0.704034 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EML1 Ser575Pro S575P not reviewed Insufficiently evaluated not reviewed unknown Array rs2250718 93 126 0.738095 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EML2 Arg357His R357H not reviewed Insufficiently evaluated not reviewed unknown Array rs3816045 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.962 - - 1 - 2 N - - EML2 Gly306Arg G306R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - EML2 Glu235Asp E235D not reviewed Insufficiently evaluated not reviewed unknown Array rs1545040 19 126 0.150794 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EML2 Leu187Phe L187F not reviewed Insufficiently evaluated not reviewed unknown Array rs7252175 13 126 0.103175 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - EML2 Met33Val M33V not reviewed Insufficiently evaluated not reviewed unknown Array rs12151009 7 126 0.0555556 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - EML3 Ala654Pro A654P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - EML4 Lys225Glu K225E not reviewed Insufficiently evaluated not reviewed unknown Array rs6736913 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML4 Lys283Glu K283E not reviewed Insufficiently evaluated not reviewed unknown Array rs6736913 10623 10758 0.987451 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EML4 His321Asn H321N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML4 His379Asn H379N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - EML4 Ile324Val I324V not reviewed Insufficiently evaluated not reviewed unknown Array rs10202624 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - EML4 Ile382Val I382V not reviewed Insufficiently evaluated not reviewed unknown Array rs10202624 9863 10756 0.916977 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EML4 Lys340Arg K340R not reviewed Insufficiently evaluated not reviewed unknown Array rs28651764 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EML4 Lys398Arg K398R not reviewed Insufficiently evaluated not reviewed unknown Array rs28651764 2786 10758 0.25897 29 0 33 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - EML5 Val1235Met V1235M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML5 Ile269Val I269V not reviewed Insufficiently evaluated not reviewed unknown Array rs17188228 2205 9634 0.228877 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - EML6 Met602Leu M602L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EMP2 Ile51Val I51V not reviewed Insufficiently evaluated not reviewed unknown Array rs73503834 121 10758 0.0112474 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - EMR1 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs330877 3403 10758 0.316323 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EMR1 Gly92Arg G92R not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EMR1 Val121Ile V121I not reviewed Insufficiently evaluated not reviewed unknown Array rs35408761 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EMR1 Ser140Arg S140R not reviewed Insufficiently evaluated not reviewed unknown Array rs330880 4865 10758 0.452222 44 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EMR1 Asp174Asn D174N not reviewed Insufficiently evaluated not reviewed unknown Array rs897738 3972 10758 0.369214 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EMR1 Glu184Asp E184D not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EMR1 Asn254Ser N254S not reviewed Insufficiently evaluated not reviewed unknown Array rs443658 3971 10758 0.369121 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMR1 Ala298Val A298V not reviewed Insufficiently evaluated not reviewed unknown Array rs370094 3972 10758 0.369214 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EMR1 Thr389Met T389M not reviewed Insufficiently evaluated not reviewed unknown Array rs466876 2170 10758 0.20171 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EMR1 Ile424Val I424V not reviewed Insufficiently evaluated not reviewed unknown Array rs457857 7597 10758 0.706172 47 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EMR1 Lys496Gln K496Q not reviewed Insufficiently evaluated not reviewed unknown Array rs373533 7831 10758 0.727923 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EMR1 Ile539Val I539V not reviewed Insufficiently evaluated not reviewed unknown Array rs461645 7813 10758 0.72625 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EMR1 Val589Ile V589I not reviewed Insufficiently evaluated not reviewed unknown Array rs7256147 2245 10758 0.208682 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EMR1 Met663Thr M663T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228539 4065 10758 0.377858 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EMR2 Glu578Asp E578D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EMR2 Glu616Asp E616D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EMR2 Glu627Asp E627D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EMR2 Glu660Asp E660D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EMR2 Glu671Asp E671D not reviewed Insufficiently evaluated not reviewed unknown Array 901 10758 0.0837516 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EMR2 Glu709Asp E709D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EMR2 Glu720Asp E720D not reviewed Insufficiently evaluated not reviewed unknown Array rs57865820 12 128 0.09375 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.029 - - -2 - 0 N - - EMR2 Ser523Phe S523F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - EMR2 Ser561Phe S561F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - EMR2 Ser572Phe S572F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - EMR2 Ser605Phe S605F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - EMR2 Ser616Phe S616F not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - EMR2 Ser654Phe S654F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - EMR2 Ser665Phe S665F not reviewed Insufficiently evaluated not reviewed unknown Array rs3752187 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 3 - 8 - - EMR2 Leu472Phe L472F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Leu510Phe L510F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Leu521Phe L521F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Leu554Phe L554F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Leu565Phe L565F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 8291 10758 0.770682 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMR2 Leu603Phe L603F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Leu614Phe L614F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524383 92 114 0.807018 44 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMR2 Thr463Ile T463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR2 Thr501Ile T501I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR2 Thr512Ile T512I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR2 Thr545Ile T545I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR2 Thr556Ile T556I not reviewed Insufficiently evaluated not reviewed unknown Array 548 10758 0.0509388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EMR2 Thr594Ile T594I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR2 Thr605Ile T605I not reviewed Insufficiently evaluated not reviewed unknown Array rs4410209 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - EMR2 Met400Val M400V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Met438Val M438V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Met449Val M449V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Met482Val M482V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Met493Val M493V not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Met531Val M531V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Met542Val M542V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731999 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - EMR2 Lys337Stop K337X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Lys375Stop K375X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Lys386Stop K386X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Lys419Stop K419X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Lys430Stop K430X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Lys468Stop K468X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Lys479Stop K479X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR2 Ala172Val A172V not reviewed Insufficiently evaluated not reviewed unknown Array rs35612307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMR2 Ala221Val A221V not reviewed Insufficiently evaluated not reviewed unknown Array rs35612307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMR2 Ala265Val A265V not reviewed Insufficiently evaluated not reviewed unknown Array rs35612307 2534 10754 0.235633 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EMR2 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs35612307 18 118 0.152542 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - EMR2 Phe139Leu F139L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - EMR2 Phe188Leu F188L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - EMR2 Phe232Leu F232L not reviewed Insufficiently evaluated not reviewed unknown Array 384 10758 0.0356944 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - EMR2 Phe281Leu F281L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744931 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 3 - 1 - - EMR2 Leu160Val L160V not reviewed Insufficiently evaluated not reviewed unknown Array rs12976472 3428 10646 0.321999 45 0 65 0 0 - - - - - - - - - - - - - - - - 0.221 - - 0 - 0 N - - EMR2 Lys154Ile K154I not reviewed Insufficiently evaluated not reviewed unknown Array rs12985807 616 8076 0.0762754 38 0 57 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - EMR2 Leu153Phe L153F not reviewed Insufficiently evaluated not reviewed unknown Array rs12976493 660 8124 0.0812408 38 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMR3 Ala476Thr A476T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.3 - - 1 - 1 N - - EMR3 Arg385Gln R385Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45508602 8892 10750 0.827163 52 0 86 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - EMR3 Leu379Val L379V not reviewed Insufficiently evaluated not reviewed unknown Array 185 10754 0.0172029 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - EMR3 Ala236Val A236V not reviewed Insufficiently evaluated not reviewed unknown Array rs34226397 3550 10758 0.329987 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EMR3 Glu127Gln E127Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4606855 8588 10758 0.79829 16 0 28 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - EMX1 Pro126Thr P126T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EN2 Leu121Phe L121F not reviewed Insufficiently evaluated not reviewed unknown Array 447 1526 0.292923 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - EN2 Ala253Ser A253S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ENAM Phe576Leu F576L not reviewed Insufficiently evaluated not reviewed unknown Array rs2609428 459 10758 0.0426659 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ENAM Ile648Thr I648T not reviewed Insufficiently evaluated not reviewed unknown Array rs7671281 1940 10758 0.180331 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ENAM Arg763Gln R763Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3796704 1482 10758 0.137758 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ENAM Ser1107Asn S1107N not reviewed Insufficiently evaluated not reviewed unknown Array rs71599965 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENDOD1 Val350Met V350M not reviewed Insufficiently evaluated not reviewed unknown Array rs3740862 533 9614 0.05544 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - ENDOD1 Gly446Val G446V not reviewed Insufficiently evaluated not reviewed unknown Array rs3740861 2294 10238 0.224067 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.824 - - 8 Y 0 N - - ENDOD1 Val463Leu V463L not reviewed Insufficiently evaluated not reviewed unknown Array rs61997243 40 10146 0.00394244 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENDOG Ser12Leu S12L not reviewed Insufficiently evaluated not reviewed unknown Array rs2293969 821 976 0.841189 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ENG Leu12Pro L12P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.838 Y Y 7 Y 4 - 7 - - ENGASE Ala5Glu A5E not reviewed Insufficiently evaluated not reviewed unknown Array 599 7214 0.083033 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ENGASE Arg321His R321H not reviewed Insufficiently evaluated not reviewed unknown Array rs12937557 587 10422 0.0563232 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 1 N - - ENGASE Thr508Ile T508I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - ENGASE Ser596Asn S596N not reviewed Insufficiently evaluated not reviewed unknown Array rs4789879 1034 10156 0.101812 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ENGASE Gln618Stop Q618X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10248 0.00019516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ENO3 Ser71Asn S71N not reviewed Insufficiently evaluated not reviewed unknown Array rs238238 46 128 0.359375 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ENO3 Ala85Val A85V not reviewed Insufficiently evaluated not reviewed unknown Array rs238239 83 128 0.648438 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ENOSF1 Met145Thr M145T not reviewed Insufficiently evaluated not reviewed unknown Array rs2612086 3624 10758 0.336866 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ENOSF1 Met166Thr M166T not reviewed Insufficiently evaluated not reviewed unknown Array rs2612086 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENOSF1 Met63Thr M63T not reviewed Insufficiently evaluated not reviewed unknown Array rs2612086 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENOSF1 Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 3 - 2 N - - ENOSF1 Thr83Ile T83I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENOSF1 Ser7Phe S7F not reviewed Insufficiently evaluated not reviewed unknown Array rs3786349 536 7962 0.0673198 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - ENOX1 Glu16Asp E16D not reviewed Insufficiently evaluated not reviewed unknown Array rs7338624 577 10758 0.0536345 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 1 - 2 - - ENPEP Ile32Val I32V not reviewed Insufficiently evaluated not reviewed unknown Array rs72890294 351 10758 0.0326269 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ENPEP Gln213Arg Q213R not reviewed Insufficiently evaluated not reviewed unknown Array rs10004516 9405 10752 0.874721 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ENPEP Val218Ala V218A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126483 5471 10758 0.508552 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ENPEP Trp413Stop W413X not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - ENPEP Val675Gly V675G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ENPEP Arg694Lys R694K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ENPP1 Lys173Gln K173Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1044498 3845 10758 0.357408 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.15 - - -2 - 0 N - - ENPP1 Thr779Pro T779P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 1 - 9 - - ENPP2 Ser493Pro S493P not reviewed Insufficiently evaluated not reviewed unknown Array rs10283100 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENPP2 Ser545Pro S545P not reviewed Insufficiently evaluated not reviewed unknown Array rs10283100 10360 10758 0.963004 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ENPP2 Arg75His R75H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 2 N - - ENPP3 Ser583Gly S583G not reviewed Insufficiently evaluated not reviewed unknown Array rs58038770 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENPP4 His144Gln H144Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7451713 4697 10758 0.436605 39 0 54 0 0 - - - - - - - - - - - - - - - - 0.637 - - -1 - 0 N - - ENPP5 Ile171Val I171V not reviewed Insufficiently evaluated not reviewed unknown Array rs6926570 4597 10758 0.42731 37 0 52 0 0 - - - - - - - - - - - - - - - - 0.139 - - -4 - 0 N - - ENPP5 Arg39Pro R39P not reviewed Insufficiently evaluated not reviewed unknown Array rs34109856 406 10756 0.0377464 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ENPP5 Leu6Ile L6I not reviewed Insufficiently evaluated not reviewed unknown Array rs3806995 4391 10392 0.422537 37 0 52 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ENPP6 Ser419Gly S419G not reviewed Insufficiently evaluated not reviewed unknown Array rs4479748 5395 10758 0.501487 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ENPP7 Leu4Pro L4P not reviewed Insufficiently evaluated not reviewed unknown Array rs8074547 4616 10526 0.438533 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ENPP7 Ala17Val A17V not reviewed Insufficiently evaluated not reviewed unknown Array rs73410354 42 10706 0.00392303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENPP7 Ala64Ser A64S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - -1 - 1 N - - ENPP7 Thr201Met T201M not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.495 - - 2 - 1 N - - ENSA Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - ENTHD1 Ile109Thr I109T not reviewed Insufficiently evaluated not reviewed unknown Array rs17319801 405 10758 0.0376464 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.056 - - 3 - 0 N - - ENTPD2 Leu96Pro L96P not reviewed Insufficiently evaluated not reviewed unknown Array rs11539737 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ENTPD3 Ala13Glu A13E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ENTPD3 Ala496Val A496V not reviewed Insufficiently evaluated not reviewed unknown Array rs1047855 2396 10758 0.222718 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ENTPD4 Thr381Ala T381A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ENTPD4 Thr389Ala T389A not reviewed Insufficiently evaluated not reviewed unknown Array rs73551669 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.823 - - 1 - 1 N - - ENTPD4 Lys346Glu K346E not reviewed Insufficiently evaluated not reviewed unknown Array rs2272641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENTPD4 Lys354Glu K354E not reviewed Insufficiently evaluated not reviewed unknown Array rs2272641 892 10758 0.082915 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.143 - - 0 - 0 N - - ENTPD4 Val247Ile V247I not reviewed Insufficiently evaluated not reviewed unknown Array rs34849865 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ENTPD5 Ser44Thr S44T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ENTPD6 Ser14Asn S14N not reviewed Insufficiently evaluated not reviewed unknown Array rs2076559 2791 10758 0.259435 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - ENTPD6 Gly23Ser G23S not reviewed Insufficiently evaluated not reviewed unknown Array rs45506395 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - ENTPD6 Gly6Ser G6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 8 - - ENTPD6 Lys185Glu K185E not reviewed Insufficiently evaluated not reviewed unknown Array rs6050446 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENTPD6 Lys202Glu K202E not reviewed Insufficiently evaluated not reviewed unknown Array rs6050446 10555 10758 0.98113 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ENTPD6 Val230Met V230M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ENTPD6 Val247Met V247M not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 0 N - - ENTPD6 Leu402Arg L402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ENTPD6 Leu419Arg L419R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 6 Y 1 N - - ENTPD7 Val276Ala V276A not reviewed Insufficiently evaluated not reviewed unknown Array rs11190245 2745 10758 0.255159 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ENTPD7 Leu338Phe L338F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - ENTPD8 Glu391Lys E391K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ENTPD8 Glu428Lys E428K not reviewed Insufficiently evaluated not reviewed unknown Array rs61491031 10 10752 0.000930059 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - ENTPD8 Arg363Gln R363Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENTPD8 Arg400Gln R400Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.162 - - 0 - 0 N - - ENTPD8 Val340Ile V340I not reviewed Insufficiently evaluated not reviewed unknown Array rs59249347 3 10748 0.000279121 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 1 - 1 - - ENTPD8 Leu62Pro L62P not reviewed Insufficiently evaluated not reviewed unknown Array rs6606582 10234 10750 0.952 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - EOMES Ala120Gly A120G not reviewed Insufficiently evaluated not reviewed unknown Array rs12715125 165 3180 0.0518868 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - EP300 Ile725Val I725V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - EP300 Ile997Val I997V not reviewed Insufficiently evaluated not reviewed unknown Array rs20551 2225 10758 0.206823 11 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 2 - - EP400 Arg838Gln R838Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EP400 His1819Asn H1819N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EP400 Thr2807Ala T2807A not reviewed Insufficiently evaluated not reviewed unknown Array rs7136109 1685 10748 0.156773 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EP400 Ala3093Thr A3093T not reviewed Insufficiently evaluated not reviewed unknown Array rs73164912 11 128 0.0859375 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPAS1 Arg14Lys R14K not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - -3 - 0 N - - EPAS1 Met162Val M162V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - EPAS1 Thr766Pro T766P not reviewed Insufficiently evaluated not reviewed unknown Array rs59901247 1593 10758 0.148076 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.044 - - 4 Y 0 N - - EPAS1 Pro785Thr P785T not reviewed Insufficiently evaluated not reviewed unknown Array rs61518065 508 10758 0.0472207 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.949 - - 4 Y 2 N - - EPB41 Val214Ile V214I not reviewed Insufficiently evaluated not reviewed unknown Array rs111642750 408 10758 0.0379253 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - -4 - 2 N - - EPB41 Val5Ile V5I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EPB41 Ser236Gly S236G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPB41 Ser410Gly S410G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPB41L1 Ala27Pro A27P not reviewed Insufficiently evaluated not reviewed unknown Array 6 64 0.09375 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - EPB41L2 Pro555Leu P555L not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - EPB41L2 Gln362Arg Q362R not reviewed Insufficiently evaluated not reviewed unknown Array rs73617121 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - EPB41L2 Ser69Trp S69W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - EPB41L3 Tyr575Cys Y575C not reviewed Insufficiently evaluated not reviewed unknown Array rs8082898 299 10758 0.0277933 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPB41L3 Ala555Thr A555T not reviewed Insufficiently evaluated not reviewed unknown Array rs9966357 599 10758 0.0556795 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPB41L3 Pro36Gln P36Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735458 133 10492 0.0126763 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPB41L4A Arg630His R630H not reviewed Insufficiently evaluated not reviewed unknown Array rs7703522 6928 9706 0.713785 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPB41L4A Asn532Ser N532S not reviewed Insufficiently evaluated not reviewed unknown Array rs1560058 6271 9632 0.651059 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPB41L4A Tyr495His Y495H not reviewed Insufficiently evaluated not reviewed unknown Array rs7719346 7184 9466 0.758927 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EPB41L4A Ser366Thr S366T not reviewed Insufficiently evaluated not reviewed unknown Array rs890757 6445 9598 0.671494 50 0 75 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EPB41L4A Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 92 9870 0.00932117 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EPB41L4B Asn816Thr N816T not reviewed Insufficiently evaluated not reviewed unknown Array rs3750450 7193 9602 0.749115 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPB41L5 Ala462Thr A462T not reviewed Insufficiently evaluated not reviewed unknown Array rs1034489 6707 10758 0.623443 50 0 79 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPB49 Lys206Arg K206R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EPB49 Lys231Arg K231R not reviewed Insufficiently evaluated not reviewed unknown Array 278 10752 0.0258557 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EPB49 Leu265Pro L265P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPB49 Leu290Pro L290P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPC1 Met283Val M283V not reviewed Insufficiently evaluated not reviewed unknown Array rs73245661 603 10758 0.0560513 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPCAM Met115Thr M115T not reviewed Insufficiently evaluated not reviewed unknown Array rs1126497 6119 10758 0.568786 42 0 69 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - EPDR1 Gln32Lys Q32K not reviewed Insufficiently evaluated not reviewed unknown Array 479 10756 0.0445333 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EPDR1 Pro73Leu P73L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPDR1 Asp200Glu D200E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10272 0.00116822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - EPHA1 Met900Val M900V not reviewed Insufficiently evaluated not reviewed unknown Array rs6967117 9939 10758 0.923871 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPHA1 Lys764Thr K764T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPHA1 Pro697Leu P697L not reviewed Insufficiently evaluated not reviewed unknown Array rs34372369 469 10758 0.0435955 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPHA1 Pro382Leu P382L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPHA1 Pro382Ala P382A not reviewed Insufficiently evaluated not reviewed unknown Array rs57652656 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPHA1 Val160Ala V160A not reviewed Insufficiently evaluated not reviewed unknown Array rs4725617 9726 10758 0.904071 56 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EPHA1 Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array 14 2822 0.00496102 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - EPHA10 Val1006Met V1006M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10164 9.8386e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPHA10 Arg807Gln R807Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6670599 755 10650 0.070892 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 1 N - - EPHA10 Gly749Glu G749E not reviewed Insufficiently evaluated not reviewed unknown Array rs6671088 1696 10296 0.164724 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.599 - - 6 Y 0 N - - EPHA10 Val645Ile V645I not reviewed Insufficiently evaluated not reviewed unknown Array rs12405650 752 10384 0.0724191 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - EPHA10 Ala642Val A642V not reviewed Insufficiently evaluated not reviewed unknown Array rs55698593 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.403 - - 2 - 1 N - - EPHA10 Leu629Pro L629P not reviewed Insufficiently evaluated not reviewed unknown Array rs17511304 741 10272 0.0721378 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - EPHA10 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 11 9760 0.00112705 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 1 - 1 - - EPHA10 Phe281Ile F281I not reviewed Insufficiently evaluated not reviewed unknown Array rs4653328 3224 10362 0.311137 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EPHA2 Met631Thr M631T not reviewed Insufficiently evaluated not reviewed unknown Array rs34021505 241 10758 0.0224019 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPHA3 Ile362Thr I362T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - EPHA3 Trp924Arg W924R not reviewed Insufficiently evaluated not reviewed unknown Array rs35124509 5036 10758 0.468117 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - EPHA5 Arg605Gly R605G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.413 - - 6 Y 1 N - - EPHA5 Glu528Gln E528Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - EPHA5 Asn81Thr N81T not reviewed Insufficiently evaluated not reviewed unknown Array rs33932471 502 10756 0.0466716 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - EPHA6 Glu63Lys E63K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPHA7 Pro278Ser P278S not reviewed Insufficiently evaluated not reviewed unknown Array rs2278106 236 10758 0.0219372 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.073 - - 3 - 0 N - - EPHA7 Ile138Val I138V not reviewed Insufficiently evaluated not reviewed unknown Array rs2278107 235 10758 0.0218442 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - EPHA8 Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array rs56656925 128 10758 0.0118981 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.797 - - 7 Y 1 N - - EPHA8 Ser457Pro S457P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - EPHA8 Leu492Phe L492F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPHA8 Glu612Gln E612Q not reviewed Insufficiently evaluated not reviewed unknown Array rs999765 1141 10758 0.106061 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - EPHA8 Val826Met V826M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.391 - - 0 - 1 N - - EPHA8 Arg884His R884H not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - EPHB2 Val37Ala V37A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - EPHB2 Val944Ile V944I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - EPHB2 Val945Ile V945I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.319 - - -4 - 2 - 7 - - EPHB3 Glu487Stop E487X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EPHB4 Asp576Glu D576E not reviewed Insufficiently evaluated not reviewed unknown Array rs36050247 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 3 - 3 - - EPHB6 Ser170Thr S170T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - EPHB6 Thr245Met T245M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10734 0.000372647 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - EPHB6 Ser324Ala S324A not reviewed Insufficiently evaluated not reviewed unknown Array 504 10758 0.0468489 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPHX1 Ala41Thr A41T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - EPHX1 Arg43Thr R43T not reviewed Insufficiently evaluated not reviewed unknown Array rs3738046 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 10 - - EPHX1 Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array rs58623835 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 4 - 2 - - EPHX1 Tyr113His Y113H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1051740 2760 10758 0.256553 43 0 51 7 7 - - - - - - - - - - - - Y Y - Y 0.997 Y - -1 - 4 N 8 - - This gene is involved in response to oxidative stress, and the 113H variant is associated with lower enzyme activity, apparently through disruption of protein stability rather than enzymatic function of the protein itself. Several studies have attempted to link this variant to cancer, lung disease, and other associations, but it is unclear which of these are results reproducible and validated. EPHX1 His139Arg H139R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2234922 2666 10758 0.247816 23 0 25 5 5 2 Y - - - - - - - - - - Y Y - Y - Y - 1 - 3 N 8 - - EPHX2 Arg52Trp R52W not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - EPHX2 Lys55Arg K55R not reviewed Insufficiently evaluated not reviewed unknown Array rs41507953 1515 10758 0.140825 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - EPHX2 Arg287Gln R287Q not reviewed Insufficiently evaluated not reviewed unknown Array rs751141 1115 10758 0.103644 9 0 9 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 3 N - - EPHX2 Ala354Val A354V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 3 - 2 - - EPN1 His39Gln H39Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 3234 0.0197897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPN1 Gly411Ala G411A not reviewed Insufficiently evaluated not reviewed unknown Array rs11545669 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - EPN1 Gly437Ala G437A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - EPN1 Gly523Ala G523A not reviewed Insufficiently evaluated not reviewed unknown Array 175 9958 0.0175738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - EPN2 Val116Ala V116A not reviewed Insufficiently evaluated not reviewed unknown Array rs6587220 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPN2 Val344Ala V344A not reviewed Insufficiently evaluated not reviewed unknown Array rs6587220 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPN2 Val401Ala V401A not reviewed Insufficiently evaluated not reviewed unknown Array rs6587220 10648 10758 0.989775 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EPN3 His396Tyr H396Y not reviewed Insufficiently evaluated not reviewed unknown Array 286 10734 0.0266443 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 1 N - - EPN3 Pro544Thr P544T not reviewed Insufficiently evaluated not reviewed unknown Array rs4794159 5041 10738 0.469454 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - EPO Arg166Cys R166C not reviewed Insufficiently evaluated not reviewed unknown Array rs73409075 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - EPOR Pro380Ala P380A not reviewed Insufficiently evaluated not reviewed unknown Array rs35423344 730 10758 0.0678565 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - EPPK1 Leu2398Val L2398V not reviewed Insufficiently evaluated not reviewed unknown Array 4874 10514 0.463572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPPK1 Leu2081Val L2081V not reviewed Insufficiently evaluated not reviewed unknown Array rs7839934 2575 10590 0.243154 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPPK1 Val1767Met V1767M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10036 0.000398565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPPK1 Asp1711Asn D1711N not reviewed Insufficiently evaluated not reviewed unknown Array 147 10296 0.0142774 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPPK1 Met1585Ile M1585I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPPK1 Thr1507Ala T1507A not reviewed Insufficiently evaluated not reviewed unknown Array 7974 10348 0.770584 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPPK1 Tyr744Cys Y744C not reviewed Insufficiently evaluated not reviewed unknown Array 1255 10194 0.123112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 1 - - EPPK1 Lys544Glu K544E not reviewed Insufficiently evaluated not reviewed unknown Array rs13255110 7185 10498 0.684416 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPPK1 Gly441Ser G441S not reviewed Insufficiently evaluated not reviewed unknown Array 4 9554 0.000418672 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPPK1 Asp202Asn D202N not reviewed Insufficiently evaluated not reviewed unknown Array rs13260439 3887 10518 0.369557 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EPRS Ile1043Val I1043V not reviewed Insufficiently evaluated not reviewed unknown Array rs5030752 824 10758 0.0765942 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EPRS Tyr419Cys Y419C not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.946 - - 6 Y 2 N - - EPRS Asp308Glu D308E not reviewed Insufficiently evaluated not reviewed unknown Array rs2230301 9244 10758 0.859268 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EPS15 Ile508Met I508M not reviewed Insufficiently evaluated not reviewed unknown Array rs17567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPS15 Ile822Met I822M not reviewed Insufficiently evaluated not reviewed unknown Array rs17567 3532 10758 0.328314 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EPS8 Ile700Thr I700T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 3 - 2 N - - EPS8 Pro627Ser P627S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 3 - 2 N - - EPS8L1 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs12609976 1366 10754 0.127023 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPS8L1 Gln330Glu Q330E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - EPS8L1 Gln457Glu Q457E not reviewed Insufficiently evaluated not reviewed unknown Array rs1628576 1644 10640 0.154511 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.069 - - -2 - 1 - 2 - - EPS8L1 Lys542Arg K542R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EPS8L1 Lys669Arg K669R not reviewed Insufficiently evaluated not reviewed unknown Array rs1054940 4825 10750 0.448837 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 1 N - - EPS8L1 Leu576Pro L576P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - EPS8L1 Leu703Pro L703P not reviewed Insufficiently evaluated not reviewed unknown Array rs60073068 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 3 - 1 - - EPS8L2 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12283031 378 10736 0.0352086 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - EPS8L2 Pro471Leu P471L not reviewed Insufficiently evaluated not reviewed unknown Array rs60889456 452 10756 0.0420231 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.303 - - 7 Y 1 N - - EPS8L3 Arg551Gln R551Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35072794 14 128 0.109375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPS8L3 Arg581Gln R581Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - EPS8L3 Arg582Gln R582Q not reviewed Insufficiently evaluated not reviewed unknown Array 731 10758 0.0679494 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPS8L3 Pro356Ser P356S not reviewed Insufficiently evaluated not reviewed unknown Array rs11102001 29 128 0.226562 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - EPS8L3 Pro357Ser P357S not reviewed Insufficiently evaluated not reviewed unknown Array 1811 10758 0.16834 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EPS8L3 His293Tyr H293Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3818562 45 128 0.351562 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EPS8L3 His294Tyr H294Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3818562 4304 10758 0.400074 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EPS8L3 Gly163Ser G163S not reviewed Insufficiently evaluated not reviewed unknown Array rs6693815 46 124 0.370968 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EPS8L3 Gly164Ser G164S not reviewed Insufficiently evaluated not reviewed unknown Array 3829 10758 0.355921 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EPSTI1 Asn399Lys N399K not reviewed Insufficiently evaluated not reviewed unknown Array rs1044856 2647 10758 0.246049 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPSTI1 Glu395Asp E395D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EPSTI1 Pro338Ser P338S not reviewed Insufficiently evaluated not reviewed unknown Array rs11557739 623 10758 0.0579104 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EPSTI1 Gly317Ser G317S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10746 0.000558347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.099 - - 2 - 0 N - - EPX Ile40Met I40M not reviewed Insufficiently evaluated not reviewed unknown Array rs11079339 1508 10758 0.140175 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EPX Gln122His Q122H not reviewed Insufficiently evaluated not reviewed unknown Array rs11652709 3125 10758 0.290482 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - EPX Lys441Thr K441T not reviewed Insufficiently evaluated not reviewed unknown Array rs35750729 837 10758 0.0778026 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - ERAL1 Asp426Asn D426N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ERAP1 Gln730Glu Q730E not reviewed Insufficiently evaluated not reviewed unknown Array rs27044 7593 10758 0.7058 46 0 70 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ERAP1 Arg725Gln R725Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17482078 1793 10758 0.166667 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 1 N - - ERAP1 Asp575Asn D575N not reviewed Insufficiently evaluated not reviewed unknown Array rs10050860 1885 10758 0.175218 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ERAP1 Lys528Arg K528R not reviewed Insufficiently evaluated not reviewed unknown Array rs30187 6743 10758 0.626789 43 0 63 0 0 - - - - - - - - - - - - - - - - 0.235 - - -3 - 0 N - - ERAP1 Met349Val M349V not reviewed Insufficiently evaluated not reviewed unknown Array rs2287987 1889 10758 0.17559 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ERAP1 Gly346Asp G346D not reviewed Insufficiently evaluated not reviewed unknown Array rs27895 1191 10758 0.110708 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - ERAP1 Ile276Met I276M not reviewed Insufficiently evaluated not reviewed unknown Array rs26618 2353 10758 0.218721 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.399 - - -1 - 0 N - - ERAP1 Arg127Pro R127P not reviewed Insufficiently evaluated not reviewed unknown Array rs26653 6949 10758 0.645938 41 0 64 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ERAP1 Glu56Lys E56K not reviewed Insufficiently evaluated not reviewed unknown Array rs3734016 500 10758 0.046477 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERAP1 Thr12Ile T12I not reviewed Insufficiently evaluated not reviewed unknown Array rs72773968 1072 10758 0.0996468 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - ERAP2 Pro214Leu P214L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733905 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ERAP2 Ser289Ala S289A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - ERAP2 Lys392Asn K392N not reviewed Insufficiently evaluated not reviewed unknown Array rs2549782 5834 10758 0.542294 44 0 69 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ERAP2 Leu669Gln L669Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17408150 450 10758 0.0418293 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - ERAP2 Leu952Pro L952P not reviewed Insufficiently evaluated not reviewed unknown Array rs73152140 39 10748 0.00362858 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.953 - - 7 Y 2 N - - ERBB2 Ile625Val I625V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 3 0 - - - - - - - - - - - - - - - Y - - - -4 - 2 N - - ERBB2 Ile655Val I655V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1136201 1802 10758 0.167503 7 0 7 1 1 - - - - - - - - - - - - - - - Y 0.18 - - -4 - 1 N - - Associated with cardiac toxicity with trastuzumab. ERBB2 Asp1114His D1114H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ERBB2 Asp1144His D1144H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ERBB2 Pro1140Ala P1140A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1058808 1 0 2 1 1 - - - - - - - - - - - - - - - Y - - - 2 - 2 N - - ERBB2 Pro1170Ala P1170A not reviewed Insufficiently evaluated not reviewed unknown Array rs1058808 5502 10756 0.511528 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 1 N - - ERBB2IP Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array rs34832453 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.151 - - -4 - 0 N - - ERBB2IP Ser274Leu S274L not reviewed Insufficiently evaluated not reviewed unknown Array rs3213837 1221 10756 0.113518 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ERBB2IP Lys746Glu K746E not reviewed Insufficiently evaluated not reviewed unknown Array rs16894812 523 10750 0.0486512 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.286 - - 0 - 1 N - - ERBB2IP Lys914Arg K914R not reviewed Insufficiently evaluated not reviewed unknown Array rs34521887 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 1 - 1 - - ERBB2IP Ile1066Thr I1066T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ERBB2IP Asn1087Ser N1087S not reviewed Insufficiently evaluated not reviewed unknown Array rs56330910 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - ERBB2IP Gly1089Val G1089V not reviewed Insufficiently evaluated not reviewed unknown Array rs35601230 289 10758 0.0268637 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - ERBB2IP Ser1112Leu S1112L not reviewed Insufficiently evaluated not reviewed unknown Array rs3805466 427 10758 0.0396914 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.45 - - 6 Y 1 N - - ERBB3 Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ERBB3 Arg1077Trp R1077W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.887 - - 7 Y 2 N - - ERBB3 Ser1119Cys S1119C not reviewed Insufficiently evaluated not reviewed unknown Array rs773123 1072 10758 0.0996468 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 1 N - - ERBB3 Arg1127His R1127H not reviewed Insufficiently evaluated not reviewed unknown Array rs2271188 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 3 - 9 - - ERBB4 His295Tyr H295Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.842 - - -1 - 1 N - - ERBB4 Cys197Phe C197F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ERBB4 Gly18Glu G18E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 3 - - ERC1 Gln16His Q16H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740169 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - -1 - 2 N - - ERC1 Glu324Lys E324K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERC1 Glu596Lys E596K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERC1 Glu624Lys E624K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ERC1 Lys360Asn K360N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERC1 Lys632Asn K632N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERC1 Lys660Asn K660N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 1 - 1 N - - ERC1 Thr1004Ala T1004A not reviewed Insufficiently evaluated not reviewed unknown Array rs12319376 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERC1 Thr1032Ala T1032A not reviewed Insufficiently evaluated not reviewed unknown Array rs12319376 2425 10758 0.225414 21 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ERC2 Asn542Ser N542S not reviewed Insufficiently evaluated not reviewed unknown Array rs12488237 414 9672 0.042804 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.212 - - 0 - 2 - 3 - - ERC2 Asn353Ile N353I not reviewed Insufficiently evaluated not reviewed unknown Array 125 9694 0.0128946 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 7 Y 0 N - - ERCC2 Lys751Gln K751Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13181 3432 10758 0.319018 20 0 24 2 2 - - - - - - - - - - - - Y - - Y - - Y -2 - 3 N 10 - - Increased risk of early relapse in Asian patients with fluoruracil or leucovorin. ERCC2 Asp288Asn D288N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - ERCC2 Asp312Asn D312N not reviewed Insufficiently evaluated not reviewed unknown Array rs1799793 2243 9554 0.234771 17 0 19 0 0 - - - - - - - - - - - - Y - - - 0.032 - Y -1 - 2 - 10 - - ERCC4 Arg415Gln R415Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800067 589 10758 0.05475 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 0 - 3 - 10 - - ERCC4 Ser662Pro S662P not reviewed Insufficiently evaluated not reviewed unknown Array rs2020955 729 10758 0.0677635 9 0 9 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 - 3 - - ERCC5 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - ERCC5 Glu167Gly E167G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - ERCC5 Gln256Arg Q256R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 3 - 1 - - ERCC5 Cys529Ser C529S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 3 - 2 - - ERCC5 Glu601Gly E601G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - ERCC5 Gly1053Arg G1053R not reviewed Insufficiently evaluated not reviewed unknown Array rs9514066 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - ERCC5 Gly1080Arg G1080R not reviewed Insufficiently evaluated not reviewed unknown Array rs9514067 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - ERCC5 Asp1104His D1104H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 3 - 10 - - ERCC6 Gln1413Arg Q1413R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228529 2032 10758 0.188883 14 0 14 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 3 - 8 - - ERCC6 Gly1372Arg G1372R not reviewed Insufficiently evaluated not reviewed unknown Array rs4253227 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.973 Y Y 6 Y 4 N - - ERCC6 Arg1213Gly R1213G pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs2228527 2118 10758 0.196877 17 0 17 0 0 3 Y 1 Y 0 Y 0 Y 5 Y 1 Y Y - - - 0.957 Y Y 6 Y 4 - 8 0 0 When homozygous, this variant may cause Cockayne Syndrome, which is a severe autosomal-recessive disorder characterized by abnormal early growth and development, abnormal sensitivity to sunlight, and premature aging. Cockayne Syndrome Type I and Type II lead to death in early childhood. Several other variants in the ERCC6 gene are linked to Cockayne Syndrome. This variant may also be linked to age-related macular degeneration like other ERCC6 variants, and has been linked to colorectal cancer in one study. ERCC6 Met1097Val M1097V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228526 2048 10758 0.19037 16 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 10 - - ERCC6 Gly446Asp G446D not reviewed Insufficiently evaluated not reviewed unknown Array rs4253047 102 10758 0.00948132 3 0 2 0 0 - - - - - - - - - - - - Y - - - 0.205 Y Y 4 Y 4 - 1 - - ERCC6 Gly399Asp G399D not reviewed Insufficiently evaluated not reviewed unknown Array rs2228528 1728 10758 0.160625 19 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 8 - - ERCC6 Glu382Gly E382G not reviewed Insufficiently evaluated not reviewed unknown Array rs56089364 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 6 Y 2 N - - ERCC6L Gly1148Arg G1148R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERCC8 Arg197Cys R197C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.746 Y Y 8 Y 3 N - - ERF Thr97Ser T97S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - ERG Leu103Phe L103F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERG Leu195Phe L195F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.594 - - 0 - 2 - 1 - - ERG Leu202Phe L202F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ERI1 Leu16Pro L16P not reviewed Insufficiently evaluated not reviewed unknown Array rs2288672 6568 7324 0.896778 21 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ERI1 Ser246Asn S246N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.413 - - 0 - 1 N - - ERI2 Gly272Asp G272D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERI2 Tyr352Cys Y352C not reviewed Insufficiently evaluated not reviewed unknown Array rs3213646 1579 3234 0.48825 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ERICH1 Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - ERLIN1 Ile291Val I291V not reviewed Insufficiently evaluated not reviewed unknown Array rs2862954 3709 10758 0.344767 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ERMAP Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array rs35757049 174 10758 0.016174 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.778 Y Y 2 - 4 - 4 - - ERMAP His26Tyr H26Y not reviewed Insufficiently evaluated not reviewed unknown Array rs33953680 2208 10758 0.205243 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.757 Y Y -1 - 2 N - - ERMAP Arg392His R392H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 Y Y 1 - 4 N - - ERMP1 His103Gln H103Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13302671 121 8484 0.0142621 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - ERMP1 Arg34Gly R34G not reviewed Insufficiently evaluated not reviewed unknown Array rs13283149 78 8746 0.00891836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERN2 Ser535Thr S535T not reviewed Insufficiently evaluated not reviewed unknown Array rs26764 3984 10758 0.370329 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ERN2 Val117Ile V117I not reviewed Insufficiently evaluated not reviewed unknown Array rs9932495 215 10758 0.0199851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ERO1L Gln438Stop Q438X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERO1LB His465Gln H465Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1055851 4644 10710 0.433613 36 0 54 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ERO1LB Asp129Val D129V not reviewed Insufficiently evaluated not reviewed unknown Array rs2477599 4915 10742 0.45755 27 0 38 0 0 - - - - - - - - - - - - - - - - 0.285 - - 8 Y 0 N - - ERP29 Glu175Asp E175D not reviewed Insufficiently evaluated not reviewed unknown Array rs34441328 202 10758 0.0187767 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.266 - - -2 - 1 N - - ERRFI1 Ser189Pro S189P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ESAM Arg273Cys R273C not reviewed Insufficiently evaluated not reviewed unknown Array rs12792040 876 10758 0.0814278 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - ESCO1 Arg752Lys R752K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - -3 - 0 N - - ESCO1 Thr221Met T221M not reviewed Insufficiently evaluated not reviewed unknown Array rs13381941 5195 10758 0.482896 40 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ESCO1 Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array rs35087820 226 10758 0.0210076 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - ESCO2 Ala80Val A80V not reviewed Insufficiently evaluated not reviewed unknown Array rs4732748 1066 10758 0.099089 18 0 21 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - ESCO2 Gln359Pro Q359P not reviewed Insufficiently evaluated not reviewed unknown Array rs57479434 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 4 Y 2 N - - ESD Asp231Gly D231G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ESD Gly190Glu G190E not reviewed Insufficiently evaluated not reviewed unknown Array rs9778 1037 10758 0.0963934 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.033 - - 6 Y 0 N - - ESF1 Ile824Leu I824L not reviewed Insufficiently evaluated not reviewed unknown Array rs34414644 993 10758 0.0923034 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - ESF1 Ile550Thr I550T not reviewed Insufficiently evaluated not reviewed unknown Array rs3180370 7724 10758 0.717977 53 0 89 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - ESPL1 Ala25Asp A25D not reviewed Insufficiently evaluated not reviewed unknown Array rs6580942 8279 10758 0.769567 50 0 87 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ESPL1 Ala116Val A116V not reviewed Insufficiently evaluated not reviewed unknown Array rs2364600 458 10758 0.042573 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ESPL1 Ser614Arg S614R not reviewed Insufficiently evaluated not reviewed unknown Array rs1318648 6109 10754 0.568068 46 0 60 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 1 N - - ESPL1 Met693Ile M693I not reviewed Insufficiently evaluated not reviewed unknown Array rs17125266 445 10758 0.0413646 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ESPL1 Arg699Gln R699Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34424268 440 10758 0.0408998 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - ESPL1 Asn918Ser N918S not reviewed Insufficiently evaluated not reviewed unknown Array rs73309511 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ESPL1 Lys1435Met K1435M not reviewed Insufficiently evaluated not reviewed unknown Array rs1110719 9303 10758 0.864752 54 0 94 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 1 N - - ESPL1 Ile1488Met I1488M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737629 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - ESPL1 Arg1561Gln R1561Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56358776 3402 10756 0.316289 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ESPL1 Arg2037His R2037H not reviewed Insufficiently evaluated not reviewed unknown Array rs1056685 10363 10758 0.963283 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ESPN Ala133Val A133V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ESPN Leu156Pro L156P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - ESPN Gln236Glu Q236E not reviewed Insufficiently evaluated not reviewed unknown Array 282 9724 0.0290004 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - -2 - 1 N - - ESPN Ser400Cys S400C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 1 - 1 - - ESPN Arg422Gln R422Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 10752 0.0108817 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ESPN Arg546Cys R546C not reviewed Insufficiently evaluated not reviewed unknown Array 208 1750 0.118857 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ESPNL Val146Ile V146I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.417 - - -4 - 1 N - - ESPNL Arg167Gln R167Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34046909 269 10746 0.0250326 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ESPNL Tyr176Ser Y176S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10754 0.00297564 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - 5 Y 1 N - - ESPNL Arg351Cys R351C not reviewed Insufficiently evaluated not reviewed unknown Array rs73100390 100 10690 0.00935454 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.175 - - 8 Y 0 N - - ESPNL Ile568Val I568V not reviewed Insufficiently evaluated not reviewed unknown Array rs13033248 4112 10614 0.387413 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ESPNL Ala574Ser A574S not reviewed Insufficiently evaluated not reviewed unknown Array rs13006204 4047 10560 0.383239 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ESPNL Val610Met V610M not reviewed Insufficiently evaluated not reviewed unknown Array rs73102303 1421 10574 0.134386 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ESPNL Val761Ala V761A not reviewed Insufficiently evaluated not reviewed unknown Array rs4663845 7577 8880 0.853266 39 0 67 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ESPNL Gln829Arg Q829R not reviewed Insufficiently evaluated not reviewed unknown Array rs10172220 4035 9298 0.433964 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ESPNL Ala872Val A872V not reviewed Insufficiently evaluated not reviewed unknown Array 725 10680 0.0678839 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.574 - - 2 - 0 N - - ESPNL Ala955Thr A955T not reviewed Insufficiently evaluated not reviewed unknown Array rs73102309 1575 10730 0.146785 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ESR2 Trp439Cys W439C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ESRP2 Ala691Thr A691T not reviewed Insufficiently evaluated not reviewed unknown Array rs35355998 174 10758 0.016174 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ESRP2 Ala675Gly A675G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ESRP2 Asp153Asn D153N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 2 N - - ESRRA Leu388Phe L388F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10054 0.000994629 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ESRRA Arg389Cys R389C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10062 0.00228583 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ESRRB Pro386Ser P386S not reviewed Insufficiently evaluated not reviewed unknown Array rs35774316 574 10758 0.0533556 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.069 - - 3 - 1 - 2 - - ESSPL Cys53Tyr C53Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ESSPL Arg290Cys R290C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ESX1 Leu375Val L375V not reviewed Insufficiently evaluated not reviewed unknown Array 449 8761 0.0512499 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ESX1 Gly54Val G54V not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 8 Y 1 N - - ETAA1 Met221Thr M221T not reviewed Insufficiently evaluated not reviewed unknown Array rs13036061 1469 10708 0.137187 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - ETAA1 Ser389Asn S389N not reviewed Insufficiently evaluated not reviewed unknown Array rs3770657 8189 10752 0.761626 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ETAA1 Gly439Arg G439R not reviewed Insufficiently evaluated not reviewed unknown Array rs35777125 785 10744 0.073064 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ETAA1 Glu673Lys E673K not reviewed Insufficiently evaluated not reviewed unknown Array rs61740794 4416 10756 0.410562 32 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ETAA1 Pro715Leu P715L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 3 - 2 - - ETAA1 Pro771Ser P771S not reviewed Insufficiently evaluated not reviewed unknown Array rs3770655 8342 10754 0.775711 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ETFA Phe259Leu F259L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ETFA Phe308Leu F308L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 0 - 3 N - - ETFA Thr122Ile T122I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - ETFA Thr171Ile T171I not reviewed Insufficiently evaluated not reviewed unknown Array rs1801591 666 10758 0.0619074 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 2 N - - ETFA Ala125Val A125V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 2 - 1 N - - ETFA Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ETFB Thr154Met T154M not reviewed Insufficiently evaluated not reviewed unknown Array rs1130426 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.387 Y - 2 - 3 - 1 - - ETFB Thr245Met T245M not reviewed Insufficiently evaluated not reviewed unknown Array rs1130426 5769 10756 0.536352 42 0 59 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ETFB Pro52Leu P52L not reviewed Insufficiently evaluated not reviewed unknown Array 654 10758 0.060792 8 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 - 1 - - ETFDH Thr31Ile T31I not reviewed Insufficiently evaluated not reviewed unknown Array rs11559290 7008 10756 0.651543 42 0 72 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - ETFDH Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ETHE1 Ser14Arg S14R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 3 - 1 N - - ETNK2 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3737657 388 10756 0.0360729 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ETS1 Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ETS1 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ETV1 Ser100Gly S100G not reviewed Insufficiently evaluated not reviewed unknown Array rs9639168 2842 9640 0.294813 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ETV2 Asp90Asn D90N not reviewed Insufficiently evaluated not reviewed unknown Array rs2285419 879 10506 0.0836665 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ETV3L Gly263Ala G263A not reviewed Insufficiently evaluated not reviewed unknown Array rs12136960 1793 10752 0.16676 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.759 - - 1 - 0 N - - ETV3L Thr190Ala T190A not reviewed Insufficiently evaluated not reviewed unknown Array rs61736984 474 10758 0.0440602 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ETV3L Arg151Trp R151W not reviewed Insufficiently evaluated not reviewed unknown Array rs12083811 231 10756 0.0214764 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - ETV3L Ser19Ala S19A not reviewed Insufficiently evaluated not reviewed unknown Array rs16838078 1159 10758 0.107734 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - ETV4 Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array rs58471799 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - ETV4 Lys6Stop K6X not reviewed Insufficiently evaluated not reviewed unknown Array 10 9568 0.00104515 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - ETV5 Glu358Stop E358X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ETV7 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - EVC Gln74Pro Q74P not reviewed Insufficiently evaluated not reviewed unknown Array rs2291157 842 10758 0.0782673 11 0 11 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 4 Y 3 - 3 - - EVC Asp95Gly D95G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 4 Y 4 - 4 - - EVC Ala114Val A114V not reviewed Insufficiently evaluated not reviewed unknown Array rs16837598 693 10758 0.0644172 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.937 Y - 2 - 3 - 1 - - EVC Tyr258His Y258H not reviewed Insufficiently evaluated not reviewed unknown Array rs6414624 7586 10746 0.705937 50 0 82 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - -1 - 3 - 4 - - EVC Thr347Met T347M not reviewed Insufficiently evaluated not reviewed unknown Array rs34947207 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.04 Y - 2 - 1 N - - EVC Phe440Leu F440L not reviewed Insufficiently evaluated not reviewed unknown Array rs60582583 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 0 - 3 N - - EVC Arg443Gln R443Q benign Low clinical importance, Likely benign other Array rs35953626 851 10758 0.0791039 8 0 9 1 1 1 Y - - 5 Y 0 Y - - - - Y Y - - 0.553 Y - 0 - Ellis-van Creveld Syndrome 0 0 33 79 - 3 N 6 0 1 Probably benign. Implicated in causing Ellis-van Creveld Syndrome in a dominant manner (despite the disease typically being recessive), but the high allele frequency of this variant (7.8% in GET-Evidence data) strongly contradicts any severe pathogenic effect. EVC Thr449Lys T449K not reviewed Insufficiently evaluated not reviewed unknown Array rs2302075 9168 10758 0.852203 54 0 91 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 2 - - EVC Arg576Gln R576Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1383180 3320 10758 0.308608 29 0 33 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 - 1 - - EVC Arg760Gln R760Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2279252 107 10644 0.0100526 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 4 - 4 - - EVC Arg788His R788H not reviewed Insufficiently evaluated not reviewed unknown Array rs73795088 136 10758 0.0126418 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - EVC Asp958Asn D958N not reviewed Insufficiently evaluated not reviewed unknown Array rs35287723 108 10756 0.0100409 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - -1 - 1 N - - EVC2 Ser1046Arg S1046R not reviewed Insufficiently evaluated not reviewed unknown Array rs73074138 108 10758 0.010039 3 0 2 0 0 - - - - - - - - - - - - Y - - - 0.769 Y - 3 - 2 N - - EVC2 Leu1014Val L1014V not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - EVC2 Ser1008Leu S1008L not reviewed Insufficiently evaluated not reviewed unknown Array rs60809236 394 10758 0.0366239 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 1 N - - EVC2 Val978Gly V978G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 8 Y 1 N - - EVC2 Asp799His D799H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - 3 - 1 N - - EVC2 Thr699Ala T699A not reviewed Insufficiently evaluated not reviewed unknown Array rs730469 4779 10758 0.444228 40 0 59 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 1 - 1 N - - EVC2 Thr462Ala T462A not reviewed Insufficiently evaluated not reviewed unknown Array rs73063795 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.489 Y - 1 - 2 N - - EVC2 Ser230Gly S230G not reviewed Insufficiently evaluated not reviewed unknown Array rs4689278 2292 10758 0.213051 17 0 23 0 0 - - - - - - - - - - - - Y - - - 0.121 Y - 2 - 1 N - - EVC2 Leu18Phe L18F not reviewed Insufficiently evaluated not reviewed unknown Array rs6820907 365 3908 0.0933982 19 0 21 0 0 - - - - - - - - - - - - Y - - - 0.022 Y - 0 - 1 N - - EVI1 Asp676Asn D676N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EVI1 Asp740Asn D740N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EVI1 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - EVI1 Gln171Arg Q171R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - EVI5 Gln612His Q612H not reviewed Insufficiently evaluated not reviewed unknown Array rs11808092 2192 10754 0.203831 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - EVI5 Ile336Val I336V not reviewed Insufficiently evaluated not reviewed unknown Array rs2391199 9821 10758 0.912902 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EVL Pro309Ala P309A not reviewed Insufficiently evaluated not reviewed unknown Array rs34073270 369 10758 0.0343001 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EVPL Pro1814Ser P1814S not reviewed Insufficiently evaluated not reviewed unknown Array rs7342883 2143 10758 0.199201 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EVPL Asp444Glu D444E not reviewed Insufficiently evaluated not reviewed unknown Array rs7218767 870 10758 0.08087 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EVPL Gln433Arg Q433R not reviewed Insufficiently evaluated not reviewed unknown Array rs2071192 6887 10754 0.640413 40 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EVPL Arg336Ser R336S not reviewed Insufficiently evaluated not reviewed unknown Array 1100 10746 0.102364 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EVPL Val264Glu V264E not reviewed Insufficiently evaluated not reviewed unknown Array 4 9428 0.000424268 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EVPL Asp145Asn D145N not reviewed Insufficiently evaluated not reviewed unknown Array rs57576632 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EVPL Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 655 10740 0.060987 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EVPLL Ser4Asn S4N not reviewed Insufficiently evaluated not reviewed unknown Array rs570145 2048 3234 0.633272 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EWSR1 Ser224Thr S224T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EWSR1 Arg321Pro R321P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.089 - - 5 Y 0 N - - EXD1 Thr489Ala T489A not reviewed Insufficiently evaluated not reviewed unknown Array rs522063 7969 10758 0.740751 56 0 94 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EXD2 Gln393His Q393H not reviewed Insufficiently evaluated not reviewed unknown Array rs8007859 7374 10758 0.685443 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EXD3 Arg653Cys R653C not reviewed Insufficiently evaluated not reviewed unknown Array rs28671254 385 10572 0.036417 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.953 - - 8 Y 2 N - - EXD3 Cys545Tyr C545Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28545754 5506 10314 0.533837 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EXD3 Thr533Met T533M not reviewed Insufficiently evaluated not reviewed unknown Array rs35097575 374 10412 0.0359201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.102 - - 2 - 0 N - - EXD3 Glu322Asp E322D not reviewed Insufficiently evaluated not reviewed unknown Array rs7020732 9058 9926 0.912553 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EXD3 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7389423 9126 10252 0.890168 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EXD3 Ala160Thr A160T not reviewed Insufficiently evaluated not reviewed unknown Array rs11533158 6514 10056 0.647772 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EXD3 Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array 668 9438 0.0707777 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.094 - - 1 - 0 N - - EXD3 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13291830 6133 9390 0.653142 46 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EXO1 Arg93Gly R93G not reviewed Insufficiently evaluated not reviewed unknown Array rs4149865 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 3 - - EXO1 Asn279Ser N279S not reviewed Insufficiently evaluated not reviewed unknown Array rs4149909 243 10758 0.0225878 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - EXO1 Asn299Ser N299S not reviewed Insufficiently evaluated not reviewed unknown Array rs4149910 89 10758 0.00827291 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - EXO1 His354Arg H354R not reviewed Insufficiently evaluated not reviewed unknown Array rs735943 6103 10758 0.567299 47 0 70 0 0 - - - - - - - - - - - - - - - - 0.119 - - 1 - 0 N - - EXO1 Thr439Met T439M not reviewed Insufficiently evaluated not reviewed unknown Array rs4149963 606 10758 0.0563302 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.699 - - 2 - 0 N - - EXO1 Val458Met V458M not reviewed Insufficiently evaluated not reviewed unknown Array rs4149965 1865 10758 0.173359 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EXO1 Glu589Lys E589K not reviewed Insufficiently evaluated not reviewed unknown Array rs1047840 4402 10758 0.409184 34 0 38 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - EXO1 Glu670Gly E670G not reviewed Insufficiently evaluated not reviewed unknown Array rs1776148 7016 10758 0.652166 50 0 74 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - EXO1 Arg723Cys R723C not reviewed Insufficiently evaluated not reviewed unknown Array rs1635498 10149 10744 0.94462 54 0 96 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 0 N - - EXO1 Pro757Leu P757L not reviewed Insufficiently evaluated not reviewed unknown Array rs9350 1763 10758 0.163878 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - EXOC3L Ser634Gly S634G not reviewed Insufficiently evaluated not reviewed unknown Array rs16957212 440 10738 0.040976 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - EXOC3L Gln561Glu Q561E not reviewed Insufficiently evaluated not reviewed unknown Array rs9939768 2012 10758 0.187024 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EXOC3L His449Arg H449R not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXOC3L Arg242Gly R242G not reviewed Insufficiently evaluated not reviewed unknown Array rs34746889 101 10730 0.00941286 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - EXOC3L2 Asp362Glu D362E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - -2 - 1 N - - EXOC3L2 Asn173Asp N173D not reviewed Insufficiently evaluated not reviewed unknown Array rs10411314 822 10562 0.0778262 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EXOC3L2 Arg75Cys R75C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - 8 Y 2 N - - EXOC5 Glu129Gln E129Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 9626 0.00228548 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - -2 - 1 N - - EXOC6 Val24Ile V24I not reviewed Insufficiently evaluated not reviewed unknown Array rs2490741 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EXOC6 Thr391Ile T391I not reviewed Insufficiently evaluated not reviewed unknown Array rs1326331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC6 Thr396Ile T396I not reviewed Insufficiently evaluated not reviewed unknown Array rs1326331 8297 10758 0.77124 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EXOC6 Leu518Val L518V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC6 Leu523Val L523V not reviewed Insufficiently evaluated not reviewed unknown Array rs11187225 989 10752 0.0919829 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EXOG Gly227Val G227V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - EXOG Gly277Val G277V not reviewed Insufficiently evaluated not reviewed unknown Array rs1141223 98 10758 0.0091095 2 0 2 1 1 0 Y - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 2 - - EXOSC1 Glu150Lys E150K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - EXOSC1 Leu144Gln L144Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - EXOSC1 Leu143Arg L143R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.823 - - 6 Y 1 N - - EXOSC2 Pro8Ala P8A not reviewed Insufficiently evaluated not reviewed unknown Array 67 10750 0.00623256 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - 2 - 1 N - - EXOSC5 Thr5Met T5M not reviewed Insufficiently evaluated not reviewed unknown Array rs10853751 7234 10758 0.67243 44 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EXOSC7 Thr5Ala T5A not reviewed Insufficiently evaluated not reviewed unknown Array rs11547235 764 10744 0.0711095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - EXOSC7 Ser246Thr S246T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - EXOSC7 Val274Leu V274L not reviewed Insufficiently evaluated not reviewed unknown Array rs6794 6166 10758 0.573155 55 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EXOSC9 Ile366Val I366V not reviewed Insufficiently evaluated not reviewed unknown Array rs1803183 979 10758 0.091002 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EXOSC9 Ser425Thr S425T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EXOSC9 Ser442Thr S442T not reviewed Insufficiently evaluated not reviewed unknown Array rs1051881 1540 10744 0.143336 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EXPH5 Asn1779Asp N1779D not reviewed Insufficiently evaluated not reviewed unknown Array rs1943382 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXPH5 Asn1891Asp N1891D not reviewed Insufficiently evaluated not reviewed unknown Array rs1943382 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXPH5 Asn1967Asp N1967D not reviewed Insufficiently evaluated not reviewed unknown Array rs1943382 10750 10758 0.999256 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EXPH5 Ile1547Phe I1547F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EXPH5 Ile1659Phe I1659F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EXPH5 Ile1735Phe I1735F not reviewed Insufficiently evaluated not reviewed unknown Array rs35717245 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EXPH5 Gly1475Arg G1475R not reviewed Insufficiently evaluated not reviewed unknown Array rs2640779 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Gly1587Arg G1587R not reviewed Insufficiently evaluated not reviewed unknown Array rs2640779 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Gly1663Arg G1663R not reviewed Insufficiently evaluated not reviewed unknown Array rs2640779 1871 10758 0.173917 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EXPH5 Thr1155Ala T1155A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXPH5 Thr1267Ala T1267A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXPH5 Thr1343Ala T1343A not reviewed Insufficiently evaluated not reviewed unknown Array rs34978242 260 10750 0.024186 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXPH5 Glu1099Lys E1099K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Glu1211Lys E1211K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Glu1287Lys E1287K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Val711Ala V711A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - EXPH5 Val823Ala V823A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - EXPH5 Val899Ala V899A not reviewed Insufficiently evaluated not reviewed unknown Array rs17108112 345 10758 0.0320692 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - EXPH5 Leu665Pro L665P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXPH5 Leu777Pro L777P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXPH5 Leu853Pro L853P not reviewed Insufficiently evaluated not reviewed unknown Array rs10749920 3569 10758 0.331753 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - EXPH5 Ser488Asn S488N not reviewed Insufficiently evaluated not reviewed unknown Array rs2846412 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Ser600Asn S600N not reviewed Insufficiently evaluated not reviewed unknown Array rs2846412 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Ser676Asn S676N not reviewed Insufficiently evaluated not reviewed unknown Array rs2846412 5397 10758 0.501673 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EXPH5 Met324Leu M324L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - EXPH5 Met436Leu M436L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - EXPH5 Met512Leu M512L not reviewed Insufficiently evaluated not reviewed unknown Array rs17108127 242 10756 0.0224991 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - EXPH5 Glu137Val E137V not reviewed Insufficiently evaluated not reviewed unknown Array rs2640785 1405 10758 0.1306 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - EXPH5 Glu61Val E61V not reviewed Insufficiently evaluated not reviewed unknown Array rs2640785 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EXPH5 Arg19Gly R19G not reviewed Insufficiently evaluated not reviewed unknown Array rs2640738 4339 10758 0.403328 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EXT2 Met42Val M42V not reviewed Insufficiently evaluated not reviewed unknown Array rs4755779 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - EXT2 Met55Val M55V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - EXT2 Arg299His R299H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 5 - 4 - - EXT2 Arg312His R312H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - EXTL1 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array rs34277678 1000 10758 0.0929541 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.11 - - 1 - 1 - 2 - - EXTL1 His379Asn H379N not reviewed Insufficiently evaluated not reviewed unknown Array rs2736831 5809 10758 0.53997 38 0 54 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 1 N - - EXTL3 Ala550Val A550V not reviewed Insufficiently evaluated not reviewed unknown Array rs35781576 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 1 - 2 - - EYA1 Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - EYA1 Arg361Gln R361Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.895 Y Y 0 - 4 N - - EYA1 Pro228Leu P228L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - EYA1 Pro256Leu P256L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - EYA1 Pro261Leu P261L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.743 Y Y 7 Y 4 - 2 - - EYA1 Pro20Ala P20A not reviewed Insufficiently evaluated not reviewed unknown Array rs1445404 687 10758 0.0638595 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.168 Y Y 2 - 3 - 2 - - EYA2 Thr276Met T276M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EYA2 Thr300Met T300M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.833 - - 2 - 1 N - - EYA2 Thr305Met T305M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EYA3 Tyr90Phe Y90F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EYA4 Gly254Ser G254S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - EYA4 Gly277Ser G277S not reviewed Insufficiently evaluated not reviewed unknown Array rs9493627 4149 10758 0.385666 34 0 43 0 0 5 Y - - - - - - - - - - Y - - - 0.697 Y Y 2 - 2 N - - EYA4 Arg461Leu R461L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - EYA4 Arg484Leu R484L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - EYS Phe2943Leu F2943L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EYS Ile2683Val I2683V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - EYS Ser2545Cys S2545C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - EYS Arg2315Gln R2315Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EYS Phe2014Leu F2014L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EYS Ser2012Phe S2012F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - EYS Asn1902Ile N1902I not reviewed Insufficiently evaluated not reviewed unknown Array rs9353806 877 3228 0.271685 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - EYS Leu1873Val L1873V not reviewed Insufficiently evaluated not reviewed unknown Array rs16895517 376 3234 0.116265 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - EYS Ser1517Gly S1517G not reviewed Insufficiently evaluated not reviewed unknown Array rs62415826 383 3232 0.118502 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - EYS Ile1451Thr I1451T not reviewed Insufficiently evaluated not reviewed unknown Array rs62415828 384 3234 0.118738 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - EYS Leu1419Ser L1419S not reviewed Insufficiently evaluated not reviewed unknown Array rs624851 2454 3234 0.758813 4 0 6 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - EYS Ile1361Val I1361V not reviewed Insufficiently evaluated not reviewed unknown Array rs17403955 383 3232 0.118502 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - EYS Ile1263Val I1263V not reviewed Insufficiently evaluated not reviewed unknown Array rs17404123 383 3234 0.118429 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - EYS Leu852Pro L852P not reviewed Insufficiently evaluated not reviewed unknown Array rs9294631 2076 3234 0.64193 4 0 6 0 0 3 Y - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - EYS Glu641Val E641V not reviewed Insufficiently evaluated not reviewed unknown Array 598 3234 0.18491 2 0 2 0 0 - Y - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - EYS Gly631Ser G631S not reviewed Insufficiently evaluated not reviewed unknown Array rs9342464 1673 3234 0.517316 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - EYS Ile616Leu I616L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - EYS Gln571Arg Q571R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753610 1331 10758 0.123722 15 0 18 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - EYS Thr120Met T120M not reviewed Insufficiently evaluated not reviewed unknown Array rs12193967 1673 10758 0.155512 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 2 - - EZH2 Asp146His D146H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 7 - - EZH2 Asp185His D185H not reviewed Insufficiently evaluated not reviewed unknown Array rs2302427 633 10758 0.0588399 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 8 - - EZR Glu495Lys E495K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - EZR Pro472Ala P472A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - F10 Gly192Arg G192R not reviewed Insufficiently evaluated not reviewed unknown Array rs3211783 322 10758 0.0299312 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 6 Y 2 - 1 - - F10 Thr315Ile T315I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 10 - - F11 Gln244Arg Q244R not reviewed Insufficiently evaluated not reviewed unknown Array rs5969 57 10758 0.00529838 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.037 Y - 0 - 2 - 3 - - F11R Ala51Pro A51P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - F12 Arg310Ser R310S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10720 0.00261194 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 10 - - F12 Ser308Thr S308T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10714 0.000933358 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - -2 - 2 - 1 - - F12 Ala207Pro A207P not reviewed Insufficiently evaluated not reviewed unknown Array rs17876030 10483 10736 0.976434 55 0 109 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 2 - - F12 Leu140Val L140V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.153 Y - 0 - 1 N - - F13A1 Glu652Gln E652Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5988 2342 10758 0.217698 18 0 20 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 3 - - F13A1 Val651Ile V651I not reviewed Insufficiently evaluated not reviewed unknown Array rs5987 531 10758 0.0493586 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 3 - - F13A1 Leu589Gln L589Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 Y - - F13A1 Pro565Leu P565L not reviewed Insufficiently evaluated not reviewed unknown Array rs5982 2071 10758 0.192508 19 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 - 2 - - F13A1 Ala395Val A395V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - F13A1 Tyr205Phe Y205F not reviewed Insufficiently evaluated not reviewed unknown Array rs3024477 219 10758 0.0203569 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - F13A1 Val35Leu V35L not reviewed Insufficiently evaluated not reviewed unknown Array rs5985 2443 10758 0.227087 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - F13B Asp569Glu D569E not reviewed Insufficiently evaluated not reviewed unknown Array rs6000 180 10758 0.0167317 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - F13B Arg115His R115H not reviewed Insufficiently evaluated not reviewed unknown Array rs6003 7912 10758 0.735453 47 0 76 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 1 - 1 N - - F2 Thr165Met T165M not reviewed Insufficiently evaluated not reviewed unknown Array rs5896 1007 10758 0.0936048 9 0 12 0 0 - - - - - - - - - - - - Y - - - 0.346 Y Y 2 - 3 - 6 - - F2R Lys307Glu K307E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - F2RL1 Ser30Asn S30N not reviewed Insufficiently evaluated not reviewed unknown Array rs616235 10750 10758 0.999256 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - F2RL2 Asn250Asp N250D not reviewed Insufficiently evaluated not reviewed unknown Array rs2069683 340 10758 0.0316044 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - F2RL3 Ala120Thr A120T not reviewed Insufficiently evaluated not reviewed unknown Array rs773902 3381 10578 0.319626 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - F5 Asp2222Gly D2222G benign Low clinical importance, Uncertain benign undefined Array rs6027 483 10758 0.0448968 4 0 4 0 0 2 Y 0 - 0 - 0 - 0 - 0 - Y - - - - Y Y 4 Y 4 - 1 0 0 Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign. F5 Met2148Thr M2148T not reviewed Insufficiently evaluated not reviewed unknown Array rs9332701 338 10758 0.0314185 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - F5 Met1764Val M1764V not reviewed Insufficiently evaluated not reviewed unknown Array rs6030 3129 10758 0.290853 26 0 32 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - F5 Ser1516Ile S1516I not reviewed Insufficiently evaluated not reviewed unknown Array rs56872536 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - F5 Pro1404Ser P1404S not reviewed Insufficiently evaluated not reviewed unknown Array rs9332608 398 10758 0.0369957 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - F5 Leu1397Phe L1397F not reviewed Insufficiently evaluated not reviewed unknown Array rs13306334 70 10758 0.00650678 7 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - F5 Leu1330Ile L1330I not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - F5 His1327Arg H1327R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800595 497 10758 0.0461982 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - F5 Ile1321Leu I1321L not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - F5 Leu1285Ile L1285I not reviewed Insufficiently evaluated not reviewed unknown Array rs1046712 1875 10758 0.174289 14 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - F5 Leu1249Ile L1249I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - F5 His1146Gln H1146Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6005 262 10758 0.024354 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 1 - - F5 Lys925Glu K925E not reviewed Insufficiently evaluated not reviewed unknown Array rs6032 2621 10758 0.243633 24 0 28 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - F5 His865Arg H865R not reviewed Insufficiently evaluated not reviewed unknown Array rs4525 2626 10758 0.244097 24 0 28 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - F5 Lys858Arg K858R not reviewed Insufficiently evaluated not reviewed unknown Array rs4524 2624 10758 0.243912 24 0 28 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -3 - 3 - 5 - - F5 Asn817Thr N817T not reviewed Insufficiently evaluated not reviewed unknown Array rs6018 496 10758 0.0461052 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - F5 Pro809Ser P809S not reviewed Insufficiently evaluated not reviewed unknown Array rs6031 296 10758 0.0275144 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - F5 Gln534Arg Q534R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6025 10522 10758 0.978063 56 0 110 0 0 2 Y - - - - - - - - - - Y - - Y - Y Y 0 - 4 N 1 - - F5 Arg513Lys R513K not reviewed Insufficiently evaluated not reviewed unknown Array rs6020 1049 10758 0.0975088 17 0 22 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 3 - - F5 Met413Thr M413T benign Low clinical importance, Uncertain benign unknown Array rs6033 625 10758 0.0580963 4 0 4 1 1 1 Y - - 0 Y - - - - - - Y - - - - Y Y 2 - 3 - 1 0 0 Presumed benign. This variant is not particularly rare and has not been reported to cause disease. F5 Asp107His D107H not reviewed Insufficiently evaluated not reviewed unknown Array rs6019 1692 10756 0.157308 14 0 19 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - F5 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array rs9332485 190 10758 0.0176613 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - F7 Arg391Gln R391Q not reviewed Insufficiently evaluated not reviewed unknown Array 1168 10752 0.108631 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - F7 Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6046 10 124 0.0806452 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.112 Y - 0 - 2 - 9 - - F8 Asp1260Glu D1260E not reviewed Insufficiently evaluated not reviewed unknown Array rs1800291 3043 8760 0.347374 25 0 38 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 2 - - F9 Thr194Ala T194A not reviewed Insufficiently evaluated not reviewed unknown Array rs6048 2042 8761 0.233078 13 0 20 0 0 3 Y - - - - - - - - - - Y - - - 0.006 Y Y 1 - 3 - 3 - - FA2H Pro97Ala P97A not reviewed Insufficiently evaluated not reviewed unknown Array rs35874850 263 10758 0.0244469 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAAH Pro129Thr P129T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs324420 2753 10758 0.255903 35 0 41 2 2 3 Y - - - - - - - - - - - Y - Y 0.001 - - 4 Y 2 N - - FAAH Arg285Leu R285L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - FAAH Ala356Val A356V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 2 - 2 N - - FAAH Ala476Gly A476G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10644 0.000845546 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FABP1 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241883 2888 10758 0.268451 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FABP2 Thr55Ala T55A not reviewed Insufficiently evaluated not reviewed unknown Array rs1799883 8055 10754 0.749024 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FABP6 Thr128Met T128M not reviewed Insufficiently evaluated not reviewed unknown Array rs1130435 4514 10758 0.419595 36 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FABP6 Thr79Met T79M not reviewed Insufficiently evaluated not reviewed unknown Array rs1130435 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - FABP7 Thr61Met T61M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.743 - - 2 - 2 - 10 - - FADS3 Thr276Pro T276P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - 4 Y 1 N - - FADS6 Val238Ile V238I not reviewed Insufficiently evaluated not reviewed unknown Array rs7219093 488 9936 0.0491143 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FADS6 Ile53Val I53V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10276 0.00165434 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAF1 Val150Leu V150L not reviewed Insufficiently evaluated not reviewed unknown Array rs60785372 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - FAH Arg341Trp R341W benign Low clinical importance, Uncertain benign recessive Array 186 10758 0.0172895 0 0 0 1 1 1 Y 1 - 5 Y 0 - 0 - - - Y Y - - 0.997 Y Y 7 Y 6 N 9 0 0 This variant shows pseudodeficiency for production of FAH protein which is connected with hereditary tyrosinemia type I. Pseudodeficiency was confirmed with site-directed mutagenesis and expression in a rabbit reticulocyte lysate system. The allelic frequency in 516 Norwegian controls was 0.022. FAHD1 Asp110Asn D110N not reviewed Insufficiently evaluated not reviewed unknown Array rs3743853 1196 10758 0.111173 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAHD2B Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FAIM Ala117Thr A117T not reviewed Insufficiently evaluated not reviewed unknown Array rs641320 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAIM Ala139Thr A139T not reviewed Insufficiently evaluated not reviewed unknown Array rs641320 2967 10758 0.275795 26 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAIM Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs641320 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAIM Leu127Ser L127S not reviewed Insufficiently evaluated not reviewed unknown Array rs13043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - FAIM Leu149Ser L149S not reviewed Insufficiently evaluated not reviewed unknown Array rs13043 2111 10758 0.196226 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAIM Leu161Ser L161S not reviewed Insufficiently evaluated not reviewed unknown Array rs13043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAIM2 Ala203Gly A203G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - FAIM3 Arg195Pro R195P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAIM3 Arg307Pro R307P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - FAM101B Arg85Stop R85X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM103A1 Lys10Asn K10N not reviewed Insufficiently evaluated not reviewed unknown Array rs61738562 501 10758 0.04657 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM104B Asp75Asn D75N not reviewed Insufficiently evaluated not reviewed unknown Array rs1047042 12 70 0.171429 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM104B Ser61Gly S61G not reviewed Insufficiently evaluated not reviewed unknown Array rs1047037 27 75 0.36 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM104B Ile54Leu I54L not reviewed Insufficiently evaluated not reviewed unknown Array rs1047034 42 80 0.525 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM105A Pro19Ala P19A not reviewed Insufficiently evaluated not reviewed unknown Array 65 1534 0.0423729 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 2 - - FAM105A Thr252Ser T252S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.656 - - -2 - 1 N - - FAM105A Phe319Leu F319L not reviewed Insufficiently evaluated not reviewed unknown Array rs16903574 578 10758 0.0537275 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.916 - - 0 - 1 N - - FAM105B Met155Leu M155L not reviewed Insufficiently evaluated not reviewed unknown Array rs11953822 209 10344 0.0202049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -3 - 0 N - - FAM105B Asn311Ser N311S not reviewed Insufficiently evaluated not reviewed unknown Array rs9312870 211 10260 0.0205653 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM107A Glu141Gln E141Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11539086 1300 10758 0.12084 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 0 N - - FAM107A Ala89Ser A89S not reviewed Insufficiently evaluated not reviewed unknown Array rs1043942 865 10758 0.0804053 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - FAM107B Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array rs11259332 35 10758 0.00325339 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM108A1 Ala169Thr A169T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM108A1 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM108A1 Tyr147Ser Y147S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM108A1 Tyr198Ser Y198S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM108A1 Ser144Thr S144T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM108A1 Ser195Thr S195T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM108A1 Lys144Glu K144E not reviewed Insufficiently evaluated not reviewed unknown Array rs4807160 58 112 0.517857 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM108A1 Asp131Asn D131N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM109A Gly217Arg G217R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 2 - 3 - - FAM109B Ala188Gly A188G not reviewed Insufficiently evaluated not reviewed unknown Array rs1807493 1783 10754 0.165799 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM110A Ala227Val A227V not reviewed Insufficiently evaluated not reviewed unknown Array 73 10744 0.00679449 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.574 - - 2 - 1 N - - FAM110B His147Tyr H147Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34235613 18 10752 0.00167411 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.739 - - -1 - 1 N - - FAM110C Ile164Thr I164T not reviewed Insufficiently evaluated not reviewed unknown Array rs4241318 31 32 0.96875 16 0 31 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FAM110C Ala135Thr A135T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM111A Ile403Val I403V not reviewed Insufficiently evaluated not reviewed unknown Array rs73491319 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - FAM111A Gln451Glu Q451E not reviewed Insufficiently evaluated not reviewed unknown Array rs116918730 363 10758 0.0337423 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.487 - - -2 - 1 N - - FAM111B Pro701Ala P701A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - FAM111B Pro731Ala P731A not reviewed Insufficiently evaluated not reviewed unknown Array rs17153376 16 10672 0.00149925 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.713 - - 2 - 2 - 2 - - FAM114A1 Ser40Leu S40L not reviewed Insufficiently evaluated not reviewed unknown Array rs34137542 96 10758 0.00892359 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM114A1 Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array rs11096964 3040 10758 0.28258 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 1 N - - FAM114A1 Leu116Pro L116P not reviewed Insufficiently evaluated not reviewed unknown Array rs11944159 2963 10720 0.276399 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM114A1 Val402Met V402M not reviewed Insufficiently evaluated not reviewed unknown Array rs73150484 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM114A1 Thr415Pro T415P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 4 Y 1 N - - FAM114A1 Val443Ile V443I not reviewed Insufficiently evaluated not reviewed unknown Array rs17429619 1532 10758 0.142406 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - FAM114A1 Ser446Leu S446L not reviewed Insufficiently evaluated not reviewed unknown Array rs36058104 266 10758 0.0247258 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM114A2 Glu407Lys E407K not reviewed Insufficiently evaluated not reviewed unknown Array rs11748836 538 10758 0.0500093 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM114A2 Gly122Ser G122S not reviewed Insufficiently evaluated not reviewed unknown Array rs2578377 6792 10756 0.631462 51 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM115A Val301Ile V301I not reviewed Insufficiently evaluated not reviewed unknown Array rs17856009 124 128 0.96875 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM115C Thr72Ala T72A not reviewed Insufficiently evaluated not reviewed unknown Array rs1568852 726 7180 0.101114 30 0 59 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM115C Pro76Ser P76S not reviewed Insufficiently evaluated not reviewed unknown Array rs1464828 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM115C Cys30Arg C30R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM115C Cys311Arg C311R not reviewed Insufficiently evaluated not reviewed unknown Array 506 692 0.731214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM116A Leu312His L312H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - FAM116B Val346Met V346M not reviewed Insufficiently evaluated not reviewed unknown Array rs68178377 26 114 0.22807 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM118A Val129Leu V129L not reviewed Insufficiently evaluated not reviewed unknown Array rs11556482 4807 10758 0.44683 27 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM118A Arg159Gln R159Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 10756 0.00660097 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM118A Arg239His R239H not reviewed Insufficiently evaluated not reviewed unknown Array rs6007594 4662 10758 0.433352 43 0 63 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 1 N - - FAM118B Arg347Lys R347K not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FAM119A Thr192Ile T192I not reviewed Insufficiently evaluated not reviewed unknown Array rs2551949 8956 10758 0.832497 56 0 106 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 0 N - - FAM119A Ala84Gly A84G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - FAM119B Ser28Leu S28L not reviewed Insufficiently evaluated not reviewed unknown Array rs34913183 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 1 - 2 - - FAM119B Ile176Thr I176T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - FAM120AOS Lys241Glu K241E not reviewed Insufficiently evaluated not reviewed unknown Array rs10821128 2715 10758 0.25237 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM120AOS Asn236Ser N236S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM120AOS Ser211Asn S211N not reviewed Insufficiently evaluated not reviewed unknown Array rs41274386 535 10758 0.0497304 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM120AOS Leu22Phe L22F not reviewed Insufficiently evaluated not reviewed unknown Array rs1055710 2791 10072 0.277105 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM120B Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FAM120B Asp370Tyr D370Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6917485 1326 10758 0.123257 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - FAM120B Met379Thr M379T not reviewed Insufficiently evaluated not reviewed unknown Array rs6905356 1351 10758 0.125581 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 0 N - - FAM120B Tyr428Cys Y428C not reviewed Insufficiently evaluated not reviewed unknown Array rs6900199 1442 10758 0.13404 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM120B Tyr440Cys Y440C not reviewed Insufficiently evaluated not reviewed unknown Array 1324 10758 0.123071 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM120B Cys511Gly C511G not reviewed Insufficiently evaluated not reviewed unknown Array rs9348266 1362 10758 0.126603 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 1 N - - FAM120B Arg833Trp R833W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733633 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - FAM120C Met934Ile M934I not reviewed Insufficiently evaluated not reviewed unknown Array rs41304786 127 8761 0.0144961 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM120C Ile82Thr I82T not reviewed Insufficiently evaluated not reviewed unknown Array rs2495783 17 17 1 14 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM123A Ile540Met I540M not reviewed Insufficiently evaluated not reviewed unknown Array rs2282406 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM123A Ile659Met I659M not reviewed Insufficiently evaluated not reviewed unknown Array rs2282406 336 10758 0.0312326 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - FAM123B Phe159Leu F159L not reviewed Insufficiently evaluated not reviewed unknown Array rs34677493 1463 8761 0.16699 11 0 15 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - FAM123C Ala178Gly A178G not reviewed Insufficiently evaluated not reviewed unknown Array 1323 10738 0.123207 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - FAM123C Ser340Pro S340P not reviewed Insufficiently evaluated not reviewed unknown Array rs1905235 10492 10758 0.975274 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM123C Leu434Val L434V not reviewed Insufficiently evaluated not reviewed unknown Array rs72854996 679 10758 0.0631158 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM124A Arg40Gln R40Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 6172 0.000162022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM124A Asp217His D217H not reviewed Insufficiently evaluated not reviewed unknown Array rs17075482 1216 10758 0.113032 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - FAM124A Tyr467Cys Y467C not reviewed Insufficiently evaluated not reviewed unknown Array rs73492203 370 10758 0.034393 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM124A Ala491Ser A491S not reviewed Insufficiently evaluated not reviewed unknown Array rs74087446 268 10756 0.0249163 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM124B Ile257Thr I257T not reviewed Insufficiently evaluated not reviewed unknown Array rs3738954 406 3234 0.125541 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM125A Cys106Tyr C106Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34949802 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.869 - - 6 Y 3 - 2 - - FAM126B Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - FAM127B Ser48Cys S48C not reviewed Insufficiently evaluated not reviewed unknown Array rs2498776 6787 8503 0.798189 49 0 89 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM128A Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM128A His127Arg H127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM128B Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM129A Gly830Ser G830S not reviewed Insufficiently evaluated not reviewed unknown Array rs35601690 297 10758 0.0276074 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM129A Pro797Leu P797L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - FAM129A Asp692Asn D692N not reviewed Insufficiently evaluated not reviewed unknown Array rs35704242 602 10758 0.0559584 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.438 - - -1 - 0 N - - FAM129A Ser633Leu S633L not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 1 - 2 - - FAM129A Leu609Pro L609P not reviewed Insufficiently evaluated not reviewed unknown Array rs28927681 2203 10758 0.204778 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM129A His285Leu H285L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - FAM129C Asp29Asn D29N not reviewed Insufficiently evaluated not reviewed unknown Array rs73504235 88 9860 0.00892495 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - FAM129C Arg109Gln R109Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - FAM129C Asp182Tyr D182Y not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - FAM129C Thr493Met T493M not reviewed Insufficiently evaluated not reviewed unknown Array rs45532635 1193 10758 0.110894 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.882 - - 2 - 1 N - - FAM129C Gly603Ser G603S not reviewed Insufficiently evaluated not reviewed unknown Array rs11666267 5374 10758 0.499535 38 0 51 0 0 - - - - - - - - - - - - - - - - 0.101 - - 2 - 0 N - - FAM12A Gly62Cys G62C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - FAM12B Leu5Val L5V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM131A Cys52Arg C52R not reviewed Insufficiently evaluated not reviewed unknown Array rs13434353 279 10758 0.0259342 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM131B Ala307Thr A307T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM131B Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array rs17854363 1793 10758 0.166667 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM131C Pro259Leu P259L not reviewed Insufficiently evaluated not reviewed unknown Array rs1807285 172 7090 0.0242595 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM131C Ser215Ile S215I not reviewed Insufficiently evaluated not reviewed unknown Array 2237 10152 0.220351 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - FAM131C Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array rs11576236 9888 10200 0.969412 25 0 46 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM131C Arg107Gln R107Q not reviewed Insufficiently evaluated not reviewed unknown Array 3402 9966 0.341361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - FAM131C Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array rs71631769 17 10202 0.00166634 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM131C Tyr67His Y67H not reviewed Insufficiently evaluated not reviewed unknown Array 157 10266 0.0152932 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - FAM132A Val286Ile V286I not reviewed Insufficiently evaluated not reviewed unknown Array rs59852185 71 10592 0.00670317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.225 - - -4 - 2 - 1 - - FAM132A Cys231Arg C231R not reviewed Insufficiently evaluated not reviewed unknown Array 1605 10568 0.151874 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM132A Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array rs12093154 976 10192 0.0957614 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.046 - - 2 - 0 N - - FAM134A Arg374His R374H not reviewed Insufficiently evaluated not reviewed unknown Array rs3210652 1066 10758 0.099089 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM134A Pro419Gln P419Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3731900 5506 10758 0.511805 33 0 44 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - FAM134A Asp526Asn D526N not reviewed Insufficiently evaluated not reviewed unknown Array rs73993510 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - FAM134B Ser241Thr S241T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM134B Ser382Thr S382T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733811 338 10040 0.0336653 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - FAM135A Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - FAM135A Asp1029Gly D1029G not reviewed Insufficiently evaluated not reviewed unknown Array rs2747701 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM135A Asp1046Gly D1046G not reviewed Insufficiently evaluated not reviewed unknown Array rs2747701 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM135B Val1142Ile V1142I not reviewed Insufficiently evaluated not reviewed unknown Array rs35765793 83 10758 0.00771519 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.583 - - -4 - 1 N - - FAM135B Ser578Asn S578N not reviewed Insufficiently evaluated not reviewed unknown Array rs57534956 71 9750 0.00728205 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM135B Pro482Leu P482L not reviewed Insufficiently evaluated not reviewed unknown Array rs71505459 2844 9834 0.289201 22 0 21 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - FAM135B Ile477Val I477V not reviewed Insufficiently evaluated not reviewed unknown Array rs7835830 6681 9778 0.683269 54 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM136A Asp88His D88H not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - FAM13A Arg502Gln R502Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13A Arg828Gln R828Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13A Val443Ile V443I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM13A Val769Ile V769I not reviewed Insufficiently evaluated not reviewed unknown Array rs7657817 2807 10758 0.260922 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM13A Ala293Ser A293S not reviewed Insufficiently evaluated not reviewed unknown Array rs7680970 1061 10758 0.0986243 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM13B Met678Val M678V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13B Met774Val M774V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13B Met802Val M802V not reviewed Insufficiently evaluated not reviewed unknown Array rs33956817 416 10758 0.0386689 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13C Pro186Leu P186L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM13C Pro269Leu P269L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM13C Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array rs73299227 123 10758 0.0114334 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM13C Pro64Ser P64S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM148A Arg225Gly R225G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM148B Phe276Val F276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM148B Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM149A Lys41Glu K41E not reviewed Insufficiently evaluated not reviewed unknown Array rs4862650 9545 10758 0.887247 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM149A Lys146Glu K146E not reviewed Insufficiently evaluated not reviewed unknown Array rs4862653 9680 10758 0.899795 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM149A Lys201Glu K201E not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM149A His214Arg H214R not reviewed Insufficiently evaluated not reviewed unknown Array rs2276924 9697 10758 0.901376 48 0 89 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM149A Pro241Leu P241L not reviewed Insufficiently evaluated not reviewed unknown Array rs2276922 3368 10758 0.313069 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM149A Leu370Ile L370I not reviewed Insufficiently evaluated not reviewed unknown Array rs61155675 588 10758 0.054657 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM149A Arg431Trp R431W not reviewed Insufficiently evaluated not reviewed unknown Array rs9991339 777 10758 0.0722253 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM149A Gly453Val G453V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10756 0.00474154 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM149A Leu457Val L457V not reviewed Insufficiently evaluated not reviewed unknown Array rs6818265 179 10756 0.0166419 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - FAM149B1 Thr537Lys T537K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - FAM149B1 Gly571Arg G571R not reviewed Insufficiently evaluated not reviewed unknown Array rs12573841 232 3234 0.0717378 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM151A Gly546Asp G546D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2289015 343 10758 0.0318832 10 0 10 1 1 - - - - - - - - - - - - - - - Y 0.625 - - 4 Y 3 N 3 - - FAM151A Gly526Ala G526A not reviewed Insufficiently evaluated not reviewed unknown Array rs11206394 913 10752 0.0849144 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM151A Ser453Leu S453L not reviewed Insufficiently evaluated not reviewed unknown Array rs41297137 134 10758 0.0124558 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 6 Y 0 N - - FAM151A Ala416Val A416V not reviewed Insufficiently evaluated not reviewed unknown Array rs1368883 4614 10758 0.42889 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM151B Glu118Gln E118Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734947 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - FAM151B Ile155Thr I155T not reviewed Insufficiently evaluated not reviewed unknown Array rs369998 8611 10758 0.800428 53 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM153A Phe145Leu F145L not reviewed Insufficiently evaluated not reviewed unknown Array rs2014864 1037 10366 0.100039 16 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM153A Thr134Met T134M not reviewed Insufficiently evaluated not reviewed unknown Array rs2006825 2156 10066 0.214186 29 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM153B Gly197Val G197V not reviewed Insufficiently evaluated not reviewed unknown Array 137 7512 0.0182375 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - FAM153C Arg44Cys R44C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - - 8 Y 0 N - - FAM154A Ala422Val A422V not reviewed Insufficiently evaluated not reviewed unknown Array rs34243148 299 10758 0.0277933 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - FAM154A Asn385Ser N385S not reviewed Insufficiently evaluated not reviewed unknown Array rs34119945 263 10758 0.0244469 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM154A Lys345Arg K345R not reviewed Insufficiently evaluated not reviewed unknown Array rs34044510 302 10758 0.0280721 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - FAM154A Cys313Trp C313W not reviewed Insufficiently evaluated not reviewed unknown Array rs34932739 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.087 - - 7 Y 0 N - - FAM154A Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743636 452 10758 0.0420152 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 2 - 2 N - - FAM154A Pro63Ser P63S not reviewed Insufficiently evaluated not reviewed unknown Array rs6475273 8816 10758 0.819483 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM154A Lys27Glu K27E not reviewed Insufficiently evaluated not reviewed unknown Array rs7021572 5707 10758 0.530489 32 0 46 0 0 - - - - - - - - - - - - - - - - 0.387 - - 0 - 0 N - - FAM154B Ser8Gly S8G not reviewed Insufficiently evaluated not reviewed unknown Array rs11631813 1722 10750 0.160186 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - FAM154B Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array rs16973457 4978 10758 0.462725 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.815 - - 7 Y 0 N - - FAM154B Thr115Ala T115A not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.962 - - 1 - 2 N - - FAM154B Trp225Arg W225R not reviewed Insufficiently evaluated not reviewed unknown Array rs11630197 2415 10758 0.224484 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - FAM155A Gln73Arg Q73R not reviewed Insufficiently evaluated not reviewed unknown Array 160 10750 0.0148837 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - FAM155B Leu172Pro L172P not reviewed Insufficiently evaluated not reviewed unknown Array rs1171942 4473 8754 0.510966 19 0 36 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM157A Ser125Pro S125P not reviewed Insufficiently evaluated not reviewed unknown Array rs2690956 135 2344 0.0575939 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM157A Thr311Ala T311A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM160A1 Pro994Arg P994R not reviewed Insufficiently evaluated not reviewed unknown Array 52 3234 0.0160792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 5 Y 2 N - - FAM160A2 Arg848Cys R848C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - FAM160A2 Arg862Cys R862C not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM160A2 Pro718Leu P718L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM160A2 Pro732Leu P732L not reviewed Insufficiently evaluated not reviewed unknown Array rs72910144 104 10758 0.00966722 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM160A2 Lys654Gln K654Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM160A2 Lys668Gln K668Q not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM160A2 Arg619Leu R619L not reviewed Insufficiently evaluated not reviewed unknown Array rs3750943 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - FAM160A2 Arg633Leu R633L not reviewed Insufficiently evaluated not reviewed unknown Array rs3750943 1359 10532 0.129035 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM160A2 Thr491Met T491M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM160A2 Thr505Met T505M not reviewed Insufficiently evaluated not reviewed unknown Array rs3750944 6047 10750 0.562512 44 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM160B1 Thr733Ala T733A not reviewed Insufficiently evaluated not reviewed unknown Array rs10885629 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM160B2 Arg366Lys R366K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FAM160B2 Ala558Thr A558T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM161A Glu652Lys E652K not reviewed Insufficiently evaluated not reviewed unknown Array 45 9918 0.00453721 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM161A Ile236Val I236V not reviewed Insufficiently evaluated not reviewed unknown Array rs17513722 1796 9554 0.187984 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - -4 - 0 N - - FAM161A Ile107Met I107M not reviewed Insufficiently evaluated not reviewed unknown Array rs11125895 1611 9526 0.169116 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM161B Pro625Ser P625S not reviewed Insufficiently evaluated not reviewed unknown Array 326 10758 0.030303 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.161 - - 3 - 0 N - - FAM161B Lys487Arg K487R not reviewed Insufficiently evaluated not reviewed unknown Array rs28927675 4248 10758 0.394869 40 0 51 0 0 - - - - - - - - - - - - - - - - 0.246 - - -3 - 0 N - - FAM161B Ser336Ala S336A not reviewed Insufficiently evaluated not reviewed unknown Array rs73301408 28 10758 0.00260271 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.074 - - -1 - 0 N - - FAM161B Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34140859 95 10758 0.00883064 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.521 - - 0 - 1 N - - FAM162A Ser3Asn S3N not reviewed Insufficiently evaluated not reviewed unknown Array 114 10038 0.0113568 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM162B Gln71His Q71H not reviewed Insufficiently evaluated not reviewed unknown Array rs654128 1397 10642 0.131272 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.939 - - -1 - 1 N - - FAM164C Arg171Gly R171G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.165 - - 6 Y 0 N - - FAM164C Gly314Val G314V not reviewed Insufficiently evaluated not reviewed unknown Array rs3742778 4110 9556 0.430096 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM164C Ser364Thr S364T not reviewed Insufficiently evaluated not reviewed unknown Array rs73309766 178 9928 0.0179291 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM166A Gly278Ser G278S not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - FAM166A Lys262Asn K262N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - FAM166A Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FAM167A Thr107Ser T107S not reviewed Insufficiently evaluated not reviewed unknown Array rs3021512 1551 10346 0.149913 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM167A Ser99Thr S99T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10502 0.00637974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM167A His56Gln H56Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3021513 10685 10758 0.993214 56 0 111 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FAM169B Ser115Pro S115P not reviewed Insufficiently evaluated not reviewed unknown Array rs12101356 8975 10114 0.887384 51 0 92 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM170A Pro173Ser P173S not reviewed Insufficiently evaluated not reviewed unknown Array rs328694 4122 10060 0.409742 30 0 38 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - FAM171A1 Pro465Ser P465S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814165 1359 10758 0.126325 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 1 N - - FAM171A1 Leu342Val L342V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.62 - - 0 - 1 N - - FAM171A2 Pro129Leu P129L not reviewed Insufficiently evaluated not reviewed unknown Array 195 3234 0.0602968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM171B Arg95His R95H not reviewed Insufficiently evaluated not reviewed unknown Array rs73979354 161 10758 0.0149656 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM173A Arg95Met R95M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 2 - 1 - - FAM173B Thr75Met T75M not reviewed Insufficiently evaluated not reviewed unknown Array rs2438652 1373 10164 0.135085 25 0 33 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM174A Asn186Ser N186S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FAM174B Trp36Arg W36R not reviewed Insufficiently evaluated not reviewed unknown Array rs2438194 2895 2986 0.969524 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM175A Asp373Asn D373N not reviewed Insufficiently evaluated not reviewed unknown Array rs13125836 420 10758 0.0390407 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 3 - 2 - - FAM175A Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs12642536 3484 10758 0.323852 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - FAM175B Val91Ile V91I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -4 - 2 N - - FAM176A Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array rs11126472 596 10720 0.055597 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - FAM176B Gly160Cys G160C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - FAM177B Ile3Ser I3S not reviewed Insufficiently evaluated not reviewed unknown Array rs2378607 5852 10758 0.543967 43 0 63 0 0 - - - - - - - - - - - - - - - - 0.027 - - 5 Y 0 N - - FAM177B Gln143Arg Q143R not reviewed Insufficiently evaluated not reviewed unknown Array rs6683071 8041 10056 0.799622 53 0 88 0 0 - - - - - - - - - - - - - - Y - 0.129 - - 0 - 1 N - - FAM178A Ser541Tyr S541Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10883563 4623 10758 0.429727 32 0 36 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 0 N - - FAM178B Pro210Ala P210A not reviewed Insufficiently evaluated not reviewed unknown Array 300 3234 0.0927644 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM178B Ile67Met I67M not reviewed Insufficiently evaluated not reviewed unknown Array rs6715329 2756 3222 0.855369 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM178B Val23Ala V23A not reviewed Insufficiently evaluated not reviewed unknown Array rs1730120 2700 3214 0.840075 50 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM179A Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array rs13009279 2639 10460 0.252294 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - FAM179A Leu177Pro L177P not reviewed Insufficiently evaluated not reviewed unknown Array rs72786178 1628 10034 0.162248 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM179A Asn224Ser N224S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10330 0.00638916 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM179A Gln265Arg Q265R not reviewed Insufficiently evaluated not reviewed unknown Array rs12623297 7928 9932 0.798228 53 0 86 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM179A Gln362Arg Q362R not reviewed Insufficiently evaluated not reviewed unknown Array rs11127202 2330 10158 0.229376 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM179A Arg404Gln R404Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35166194 2251 10132 0.222167 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 1 N - - FAM179A Ile441Val I441V not reviewed Insufficiently evaluated not reviewed unknown Array rs1109758 3902 9912 0.393664 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM179A Val512Glu V512E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 5 Y 1 N - - FAM179A Val535Ala V535A not reviewed Insufficiently evaluated not reviewed unknown Array rs6721861 4139 10290 0.402235 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM179A Ala628Val A628V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9912 0.000100887 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - FAM179A Arg724Cys R724C not reviewed Insufficiently evaluated not reviewed unknown Array rs60403047 811 10758 0.0753858 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM179A Thr941Ala T941A not reviewed Insufficiently evaluated not reviewed unknown Array rs895591 5425 10030 0.540877 46 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM179A Gly944Val G944V not reviewed Insufficiently evaluated not reviewed unknown Array rs7577483 834 9946 0.0838528 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM179A Gly951Arg G951R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - FAM179A Phe1016Leu F1016L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9678 0.000413308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 0 - 1 N - - FAM179B Glu416Gln E416Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3825629 1766 10758 0.164157 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM179B Leu511Val L511V not reviewed Insufficiently evaluated not reviewed unknown Array rs3742591 302 10758 0.0280721 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - FAM179B Ser921Arg S921R not reviewed Insufficiently evaluated not reviewed unknown Array rs73352236 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.252 - - 3 - 1 N - - FAM180A Gln150Pro Q150P not reviewed Insufficiently evaluated not reviewed unknown Array rs59178195 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 4 Y 1 N - - FAM180A Asp122Asn D122N not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - FAM180A Val96Ile V96I not reviewed Insufficiently evaluated not reviewed unknown Array rs3112374 325 10758 0.0302101 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FAM181A Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array rs10141024 5446 10758 0.506228 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - FAM181B Arg367Pro R367P not reviewed Insufficiently evaluated not reviewed unknown Array rs6592081 3545 8430 0.420522 31 0 44 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM181B Ser251Arg S251R not reviewed Insufficiently evaluated not reviewed unknown Array 1111 9848 0.112815 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 3 - 0 N - - FAM181B Val186Leu V186L not reviewed Insufficiently evaluated not reviewed unknown Array 629 3628 0.173374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM183A His132Tyr H132Y not reviewed Insufficiently evaluated not reviewed unknown Array 51 10164 0.00501771 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - -1 - 1 N - - FAM184A Ser972Leu S972L not reviewed Insufficiently evaluated not reviewed unknown Array rs58083015 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 2 N - - FAM184A Asp479Asn D479N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM184A Asp599Asn D599N not reviewed Insufficiently evaluated not reviewed unknown Array rs17827619 995 9570 0.103971 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - FAM184B Val1042Ala V1042A not reviewed Insufficiently evaluated not reviewed unknown Array rs6825562 3211 3234 0.992888 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM184B Glu887Gln E887Q not reviewed Insufficiently evaluated not reviewed unknown Array 69 3234 0.0213358 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM184B Arg784Trp R784W not reviewed Insufficiently evaluated not reviewed unknown Array rs2286771 1405 2134 0.658388 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM184B His663Gln H663Q not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM184B Arg643His R643H not reviewed Insufficiently evaluated not reviewed unknown Array rs1860596 1900 3234 0.587508 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM184B Gln632Lys Q632K not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM184B Ser542Leu S542L not reviewed Insufficiently evaluated not reviewed unknown Array 126 3234 0.038961 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM184B Gly366Ser G366S not reviewed Insufficiently evaluated not reviewed unknown Array 149 3234 0.046073 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM185A Gln19Leu Q19L not reviewed Insufficiently evaluated not reviewed unknown Array 133 3180 0.0418239 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM185A Gly60Ala G60A not reviewed Insufficiently evaluated not reviewed unknown Array rs28695887 2696 2728 0.98827 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM185A Arg230Cys R230C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM185A Arg347Cys R347C not reviewed Insufficiently evaluated not reviewed unknown Array 589 3234 0.182127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM186A Gln2316Glu Q2316E not reviewed Insufficiently evaluated not reviewed unknown Array 70 3234 0.021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM186A His2228Gln H2228Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6580741 1145 3234 0.354051 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM186A Met2193Ile M2193I not reviewed Insufficiently evaluated not reviewed unknown Array rs6580742 458 3234 0.14162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM186A His2166Tyr H2166Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7296291 1979 3234 0.611936 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM186A Phe2012Ile F2012I not reviewed Insufficiently evaluated not reviewed unknown Array 74 3234 0.0228819 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM186A Pro1982Leu P1982L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM186A Gly1648Arg G1648R not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM186A Ala1524Val A1524V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM186A Leu1506Pro L1506P not reviewed Insufficiently evaluated not reviewed unknown Array rs10876022 349 542 0.643911 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM186A Phe1423Leu F1423L not reviewed Insufficiently evaluated not reviewed unknown Array 3152 3234 0.974644 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM186A Gln1415Stop Q1415X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM186A His1367Gln H1367Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM186A Leu1233Pro L1233P not reviewed Insufficiently evaluated not reviewed unknown Array rs10876023 1964 3234 0.607297 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM186A Arg1204Gly R1204G not reviewed Insufficiently evaluated not reviewed unknown Array rs10876024 1960 3234 0.606061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM186A Ala465Gly A465G not reviewed Insufficiently evaluated not reviewed unknown Array rs4435082 3124 3234 0.965986 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM186A Lys463Thr K463T not reviewed Insufficiently evaluated not reviewed unknown Array rs4625558 3151 3234 0.974335 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM186A Pro354His P354H not reviewed Insufficiently evaluated not reviewed unknown Array 167 3234 0.0516388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM186A Lys187Gln K187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12303082 1978 3234 0.611626 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM186B Arg845Cys R845C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - FAM186B Thr737Met T737M not reviewed Insufficiently evaluated not reviewed unknown Array 211 10758 0.0196133 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - FAM186B Arg582Gln R582Q not reviewed Insufficiently evaluated not reviewed unknown Array rs52824916 1230 10758 0.114334 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - FAM186B Glu553Gln E553Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12299908 1136 10758 0.105596 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.824 - - -2 - 0 N - - FAM186B Gln541Glu Q541E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.65 - - -2 - 1 N - - FAM186B Arg398Cys R398C not reviewed Insufficiently evaluated not reviewed unknown Array rs60232998 337 10758 0.0313255 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - FAM186B Arg255Ser R255S not reviewed Insufficiently evaluated not reviewed unknown Array rs74086906 400 10758 0.0371816 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - FAM187B Trp231Stop W231X not reviewed Insufficiently evaluated not reviewed unknown Array rs35001809 250 10758 0.0232385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM187B Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array rs564117 2340 10758 0.217513 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FAM187B Trp188Stop W188X not reviewed Insufficiently evaluated not reviewed unknown Array rs541169 3489 10758 0.324317 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - FAM187B Cys160Arg C160R not reviewed Insufficiently evaluated not reviewed unknown Array rs565791 6865 10758 0.63813 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM187B Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array rs34873156 3143 10744 0.292535 16 0 22 0 0 - - - - - - - - - - - - - - - - 0.076 - - 3 - 0 N - - FAM18A Thr35Ile T35I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - FAM18A Thr35Ala T35A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - FAM18B Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM18B2 Leu271Gln L271Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12150518 562 10756 0.0522499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 4 - - FAM18B2 Ser256Arg S256R not reviewed Insufficiently evaluated not reviewed unknown Array rs73289533 835 10758 0.0776167 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM18B2 Ala175Thr A175T not reviewed Insufficiently evaluated not reviewed unknown Array rs59631163 370 10726 0.0344956 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM18B2 Trp202Arg W202R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM20A Leu530Ser L530S not reviewed Insufficiently evaluated not reviewed unknown Array rs2907373 7771 10758 0.722346 51 0 84 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM20A Asn332Lys N332K not reviewed Insufficiently evaluated not reviewed unknown Array rs2302234 3149 10758 0.292712 34 0 41 0 0 - - - - - - - - - - - - - - - - 0.959 - - 1 - 1 N - - FAM20A Leu53Gln L53Q not reviewed Insufficiently evaluated not reviewed unknown Array 160 10280 0.0155642 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM21A Gly474Arg G474R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM21B Gly386Arg G386R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM21C Gln244Arg Q244R not reviewed Insufficiently evaluated not reviewed unknown Array 92 9646 0.00953763 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM21C Ser382Pro S382P not reviewed Insufficiently evaluated not reviewed unknown Array rs2610452 2 40 0.05 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM21C Ser594Cys S594C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - 3 - 1 N - - FAM22A Pro801Gln P801Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM22D His35Tyr H35Y not reviewed Insufficiently evaluated not reviewed unknown Array 2681 10012 0.267779 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 1 N - - FAM22F Ala589Gly A589G not reviewed Insufficiently evaluated not reviewed unknown Array 217 9972 0.0217609 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 1 - 1 N - - FAM22G Pro172Ser P172S not reviewed Insufficiently evaluated not reviewed unknown Array 182 9818 0.0185374 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 3 - 0 N - - FAM22G Glu374Asp E374D not reviewed Insufficiently evaluated not reviewed unknown Array rs7866127 859 9814 0.087528 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.832 - - -2 - 0 N - - FAM23A Gly223Arg G223R not reviewed Insufficiently evaluated not reviewed unknown Array rs34460919 13 136 0.0955882 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - FAM24B Asn45Ser N45S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - FAM24B Pro2Leu P2L not reviewed Insufficiently evaluated not reviewed unknown Array rs1891110 5810 10758 0.540063 44 0 51 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM26E Ser213Asn S213N not reviewed Insufficiently evaluated not reviewed unknown Array rs34849495 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM26F Val12Gly V12G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 8 Y 0 N - - FAM26F Gly80Arg G80R not reviewed Insufficiently evaluated not reviewed unknown Array 1361 8996 0.151289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - FAM26F Thr100Ala T100A not reviewed Insufficiently evaluated not reviewed unknown Array rs10784 4069 5784 0.703492 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM26F Asp165His D165H not reviewed Insufficiently evaluated not reviewed unknown Array 221 4662 0.0474045 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - FAM26F Val280Ala V280A not reviewed Insufficiently evaluated not reviewed unknown Array rs73767784 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.454 - - 2 - 1 N - - FAM26F Asn310Lys N310K not reviewed Insufficiently evaluated not reviewed unknown Array rs41289932 801 10758 0.0744562 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.129 - - 1 - 0 N - - FAM27L Arg22Met R22M not reviewed Insufficiently evaluated not reviewed unknown Array rs12453514 49 126 0.388889 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FAM27L Arg79Gly R79G not reviewed Insufficiently evaluated not reviewed unknown Array rs9989450 54 128 0.421875 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM35A Ser244Gly S244G not reviewed Insufficiently evaluated not reviewed unknown Array 1864 10752 0.173363 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 1 N - - FAM35A Ser550Cys S550C not reviewed Insufficiently evaluated not reviewed unknown Array rs11202365 3454 10758 0.321063 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 0 N - - FAM35A Ala677Val A677V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM38A Arg2069Cys R2069C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - FAM38A Arg2023Cys R2023C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM38A Arg1982Gln R1982Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A His1833Arg H1833R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM38A Glu1783Gln E1783Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM38A Thr1759Ala T1759A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM38A Glu1665Lys E1665K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Pro1432Leu P1432L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM38A Thr1425Ile T1425I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM38A Gln1415Glu Q1415E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM38A Arg1407Gln R1407Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Gly1404Ser G1404S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Arg1389Gln R1389Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Trp1050Leu W1050L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM38A Ser907Pro S907P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM38A His279Tyr H279Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM38A Val246Ile V246I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM38A Gly239Glu G239E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM38A Ser82Phe S82F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM38A Gly24Ser G24S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38B Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array rs3748428 1009 10758 0.0937907 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - FAM3B Met134Ile M134I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM3B Met182Ile M182I not reviewed Insufficiently evaluated not reviewed unknown Array 314 10758 0.0291876 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - FAM3B Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM3B Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59821562 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM3D Ala118Ser A118S not reviewed Insufficiently evaluated not reviewed unknown Array rs33966924 1607 10758 0.149377 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM3D Arg87His R87H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM40B Ala370Thr A370T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FAM40B Arg383Gln R383Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2242030 7 10758 0.000650678 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - FAM40B Ile479Ser I479S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - FAM40B Val596Leu V596L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - FAM43A Lys249Asn K249N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10690 0.000561272 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - FAM45A Ile18Met I18M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10302 0.000485342 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM45A Arg151Stop R151X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM45A Asn220Asp N220D not reviewed Insufficiently evaluated not reviewed unknown Array 703 10758 0.0653467 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM46B His416Arg H416R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737590 688 10758 0.0639524 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 1 N - - FAM46B Thr20Lys T20K not reviewed Insufficiently evaluated not reviewed unknown Array 567 6560 0.0864329 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 3 - 0 N - - FAM46C His67Gln H67Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1630312 13 124 0.104839 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - FAM46C Val353Ile V353I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - -4 - 1 N - - FAM46D Asp185Glu D185E not reviewed Insufficiently evaluated not reviewed unknown Array rs1113265 5184 8755 0.592119 25 0 45 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - FAM46D Tyr199Cys Y199C not reviewed Insufficiently evaluated not reviewed unknown Array rs61755189 58 8757 0.00662327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM47A Arg576Gly R576G not reviewed Insufficiently evaluated not reviewed unknown Array 90 8597 0.0104688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM47A Ala377Ser A377S not reviewed Insufficiently evaluated not reviewed unknown Array rs1811716 2121 8752 0.242345 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM47B Glu120Lys E120K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - FAM47B Glu122Lys E122K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - FAM47B Val256Leu V256L not reviewed Insufficiently evaluated not reviewed unknown Array 81 8759 0.00924763 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - FAM47C Pro175His P175H not reviewed Insufficiently evaluated not reviewed unknown Array rs28706806 1061 8759 0.121133 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - FAM47C Ala716Pro A716P not reviewed Insufficiently evaluated not reviewed unknown Array rs61999275 604 8758 0.0689655 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM47C Ser760Cys S760C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730910 64 8759 0.00730677 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - FAM47C Thr819Asn T819N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - FAM47C Met906Val M906V not reviewed Insufficiently evaluated not reviewed unknown Array rs56928700 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.097 - - 0 - 1 - 1 - - FAM47C Asn924Thr N924T not reviewed Insufficiently evaluated not reviewed unknown Array rs1995914 3114 8759 0.35552 30 0 49 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM47E Lys263Gln K263Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3733251 615 3234 0.190167 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM47E Glu273Lys E273K not reviewed Insufficiently evaluated not reviewed unknown Array rs3733250 1214 3234 0.375387 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM47E Thr366Met T366M not reviewed Insufficiently evaluated not reviewed unknown Array rs1036788 2531 3234 0.782622 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM48A Thr773Met T773M not reviewed Insufficiently evaluated not reviewed unknown Array rs9469 3309 10756 0.307642 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 0 N - - FAM48A Asn513Ser N513S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM48A Asn514Ser N514S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM48B2 Gly552Arg G552R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM48B2 Pro515Ala P515A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM49A Glu124Gly E124G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - 6 Y 1 N - - FAM50A Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array 41 8753 0.00468411 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - FAM50B Arg98Gln R98Q not reviewed Insufficiently evaluated not reviewed unknown Array 97 10662 0.00909773 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - FAM53A Gly37Ser G37S not reviewed Insufficiently evaluated not reviewed unknown Array rs3860715 1021 10758 0.0949061 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.855 - - 2 - 1 N - - FAM53B Arg173Trp R173W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM53C Arg249Trp R249W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FAM54A Arg286Cys R286C not reviewed Insufficiently evaluated not reviewed unknown Array rs58671808 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - FAM54B Pro58Ser P58S not reviewed Insufficiently evaluated not reviewed unknown Array rs35448678 230 10412 0.0220899 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 2 N - - FAM55A Cys405Phe C405F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM55A Ile281Thr I281T not reviewed Insufficiently evaluated not reviewed unknown Array rs34993124 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM55A Asp273Tyr D273Y not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM55A Gly211Arg G211R not reviewed Insufficiently evaluated not reviewed unknown Array rs10891692 3449 10756 0.320658 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM55A Gly176Ser G176S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM55B Val103Ala V103A not reviewed Insufficiently evaluated not reviewed unknown Array 403 3234 0.124613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 - 2 - - FAM55B Thr271Ala T271A not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - FAM55B Ile303Thr I303T not reviewed Insufficiently evaluated not reviewed unknown Array 19 3234 0.00587508 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - FAM55B Asn351Ile N351I not reviewed Insufficiently evaluated not reviewed unknown Array rs1356428 1009 3228 0.312577 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM55C Val521Ile V521I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - -4 - 1 N - - FAM55D Ala167Val A167V not reviewed Insufficiently evaluated not reviewed unknown Array rs10891705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM55D Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array rs10891705 2971 9692 0.306541 31 0 40 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - FAM55D Tyr114His Y114H not reviewed Insufficiently evaluated not reviewed unknown Array rs550897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM55D Tyr398His Y398H not reviewed Insufficiently evaluated not reviewed unknown Array rs550897 5860 9802 0.597837 54 0 87 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM58B Glu10Asp E10D not reviewed Insufficiently evaluated not reviewed unknown Array rs61826220 2427 10168 0.23869 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM58B Gln48Arg Q48R not reviewed Insufficiently evaluated not reviewed unknown Array rs12028402 5078 10758 0.472021 46 0 72 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM58B Val172Ile V172I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM58B Thr236Asn T236N not reviewed Insufficiently evaluated not reviewed unknown Array rs10919847 5445 10758 0.506135 48 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM59A Ile812Val I812V not reviewed Insufficiently evaluated not reviewed unknown Array rs34795598 420 10758 0.0390407 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM59A Val579Ile V579I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - FAM59A Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array rs16962974 724 10758 0.0672988 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - FAM59A Lys291Arg K291R not reviewed Insufficiently evaluated not reviewed unknown Array rs3744921 86 10758 0.00799405 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 5 - - FAM5B Leu390Val L390V not reviewed Insufficiently evaluated not reviewed unknown Array rs3176443 2870 10758 0.266778 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM60A Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array rs2304459 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 3 - 3 - - FAM62A Ser838Trp S838W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM62B Gly698Ser G698S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - FAM62B Ser610Gly S610G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM62B Ser584Pro S584P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM62B Cys182Ser C182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM62C Arg222Trp R222W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - FAM62C Asp430Asn D430N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - FAM62C Gly590Arg G590R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM62C Asp639His D639H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM62C Thr662Ser T662S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM63A Thr243Lys T243K not reviewed Insufficiently evaluated not reviewed unknown Array rs2925741 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM63A Thr385Lys T385K not reviewed Insufficiently evaluated not reviewed unknown Array rs2925741 121 128 0.945312 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM63A Arg41Ser R41S not reviewed Insufficiently evaluated not reviewed unknown Array rs41310885 11 128 0.0859375 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - FAM63B Ser233Phe S233F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - FAM65A Arg886Cys R886C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744916 863 10758 0.0802194 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM65C Gly831Ser G831S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9944 0.000100563 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - FAM65C Leu580Pro L580P not reviewed Insufficiently evaluated not reviewed unknown Array rs6020624 7661 10758 0.712121 51 0 84 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM65C Cys566Ser C566S not reviewed Insufficiently evaluated not reviewed unknown Array rs35965508 264 10758 0.0245399 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 2 N - - FAM69B Ser158Gly S158G not reviewed Insufficiently evaluated not reviewed unknown Array rs945384 9030 10756 0.839531 49 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM71A Lys109Asn K109N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FAM71A Arg110Gly R110G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - FAM71A Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 1 - 0 N - - FAM71A Val208Met V208M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM71A Asn253Ser N253S not reviewed Insufficiently evaluated not reviewed unknown Array rs3122712 3669 10758 0.341049 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM71A Gly274Arg G274R not reviewed Insufficiently evaluated not reviewed unknown Array rs74138590 341 10758 0.0316973 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.043 - - 6 Y 0 N - - FAM71A Ala315Glu A315E not reviewed Insufficiently evaluated not reviewed unknown Array rs74138591 372 10752 0.0345982 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM71A Asn551Asp N551D not reviewed Insufficiently evaluated not reviewed unknown Array rs3122713 9028 10758 0.839189 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM71A Thr577Met T577M not reviewed Insufficiently evaluated not reviewed unknown Array rs3795842 5895 10758 0.547964 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM71B Met564Thr M564T not reviewed Insufficiently evaluated not reviewed unknown Array rs31208 1829 10758 0.170013 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - FAM71B Ala363Val A363V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM71B Met296Thr M296T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM71C Arg30Gly R30G not reviewed Insufficiently evaluated not reviewed unknown Array rs11109968 3197 10758 0.297174 30 0 32 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 1 N - - FAM71C Met71Val M71V not reviewed Insufficiently evaluated not reviewed unknown Array rs11109969 3145 10758 0.292341 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - FAM71E1 Ser190Ile S190I not reviewed Insufficiently evaluated not reviewed unknown Array rs736769 213 10758 0.0197992 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM71E2 Glu782Lys E782K not reviewed Insufficiently evaluated not reviewed unknown Array rs28420516 428 3232 0.132426 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM71E2 Gln778Arg Q778R not reviewed Insufficiently evaluated not reviewed unknown Array rs28712579 2770 3072 0.901693 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM71E2 Pro711Arg P711R not reviewed Insufficiently evaluated not reviewed unknown Array rs12974819 3194 3234 0.987631 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM71E2 Lys629Glu K629E not reviewed Insufficiently evaluated not reviewed unknown Array rs12976922 2779 3234 0.859307 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM71E2 Arg557Gln R557Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 3224 0.000310173 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM71E2 Glu546Gln E546Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12460416 3189 3232 0.986696 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM71E2 Leu406Pro L406P not reviewed Insufficiently evaluated not reviewed unknown Array rs12609732 3176 3234 0.982066 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM71E2 Arg202His R202H not reviewed Insufficiently evaluated not reviewed unknown Array 407 3234 0.12585 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - FAM71E2 Glu179Lys E179K not reviewed Insufficiently evaluated not reviewed unknown Array rs4252574 2701 3176 0.850441 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM71E2 Arg151Cys R151C not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FAM71F1 Ser228Leu S228L not reviewed Insufficiently evaluated not reviewed unknown Array rs6949056 2204 10758 0.204871 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.427 - - 6 Y 0 N - - FAM71F1 Glu242Lys E242K not reviewed Insufficiently evaluated not reviewed unknown Array rs6971091 1910 10758 0.177542 17 0 16 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 0 N - - FAM71F2 Ile4Met I4M not reviewed Insufficiently evaluated not reviewed unknown Array rs74343948 1183 9710 0.121833 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM71F2 Pro103Thr P103T not reviewed Insufficiently evaluated not reviewed unknown Array rs17169357 2600 9800 0.265306 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FAM71F2 Pro112Thr P112T not reviewed Insufficiently evaluated not reviewed unknown Array rs17169357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM71F2 Asp105Val D105V not reviewed Insufficiently evaluated not reviewed unknown Array rs6971819 1377 9764 0.141028 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM71F2 Asp114Val D114V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM71F2 Arg127Trp R127W not reviewed Insufficiently evaluated not reviewed unknown Array rs6467210 2604 9874 0.263723 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM71F2 Arg136Trp R136W not reviewed Insufficiently evaluated not reviewed unknown Array rs6467210 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM71F2 Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array rs1109552 2575 9660 0.266563 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM71F2 Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array rs1109552 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.161 - - -4 - 0 N - - FAM72B Ser90Asn S90N not reviewed Insufficiently evaluated not reviewed unknown Array 33 9680 0.00340909 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM72B Ile131Thr I131T not reviewed Insufficiently evaluated not reviewed unknown Array 169 9368 0.0180401 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM73B Glu78Lys E78K not reviewed Insufficiently evaluated not reviewed unknown Array rs6478859 28 10754 0.00260368 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.288 - - 0 - 2 - 3 - - FAM73B Val100Ala V100A not reviewed Insufficiently evaluated not reviewed unknown Array rs16930845 1712 10710 0.159851 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - FAM73B Gly212Ser G212S not reviewed Insufficiently evaluated not reviewed unknown Array rs17452596 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - FAM73B Arg243His R243H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.757 - - 1 - 1 N - - FAM73B Ala454Thr A454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 1 - 1 - - FAM75A6 Leu1258Val L1258V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM75A6 Thr643Met T643M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM75A6 Pro420Leu P420L not reviewed Insufficiently evaluated not reviewed unknown Array rs11261835 1229 2944 0.417459 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM75A6 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 32 274 0.116788 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM75C1 Arg50Cys R50C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM75C1 Cys76Arg C76R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM75C1 Thr78Ala T78A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM75C1 Pro453Thr P453T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM75C1 Pro628Leu P628L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM75C1 Glu1024Gln E1024Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 2096 0.0186069 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM81B Ala187Val A187V not reviewed Insufficiently evaluated not reviewed unknown Array rs11555275 199 9618 0.0206904 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM81B Pro275Ser P275S not reviewed Insufficiently evaluated not reviewed unknown Array rs6878669 124 124 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM82A1 Thr194Ser T194S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10756 0.00353291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM82A1 Asn233Lys N233K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - FAM82A1 Asp234Tyr D234Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM82A1 Gly259Asp G259D not reviewed Insufficiently evaluated not reviewed unknown Array rs4670800 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.918 - - 4 Y 1 N - - FAM82A1 Arg382His R382H not reviewed Insufficiently evaluated not reviewed unknown Array 93 10756 0.00864634 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM82A1 Ala506Val A506V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM82A2 Gln33His Q33H not reviewed Insufficiently evaluated not reviewed unknown Array rs11558807 368 10758 0.0342071 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM82B Asp127His D127H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - FAM82B Lys52Asn K52N not reviewed Insufficiently evaluated not reviewed unknown Array rs6980476 2656 10758 0.246886 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM83A Gln20Lys Q20K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - FAM83A Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array rs7813708 1673 10758 0.155512 19 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM83B Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM83B Asn410Ser N410S not reviewed Insufficiently evaluated not reviewed unknown Array rs13211183 248 10758 0.0230526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FAM83B Ser435Arg S435R not reviewed Insufficiently evaluated not reviewed unknown Array rs9475076 685 10758 0.0636735 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - FAM83B Lys640Thr K640T not reviewed Insufficiently evaluated not reviewed unknown Array rs239798 3436 10742 0.319866 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM83B Thr907Asn T907N not reviewed Insufficiently evaluated not reviewed unknown Array rs9475077 3458 10758 0.321435 33 0 47 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 0 N - - FAM83C Arg621Gln R621Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2425049 3850 10758 0.357873 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM83C Tyr600His Y600H not reviewed Insufficiently evaluated not reviewed unknown Array rs35560631 1282 10758 0.119167 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - FAM83C Glu134Lys E134K not reviewed Insufficiently evaluated not reviewed unknown Array rs35162625 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 3 - 2 - - FAM83C Met81Thr M81T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - FAM83D Ser25Trp S25W not reviewed Insufficiently evaluated not reviewed unknown Array 117 9754 0.0119951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM83D Val41Leu V41L not reviewed Insufficiently evaluated not reviewed unknown Array rs11537846 3241 9554 0.33923 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM83D His124Arg H124R not reviewed Insufficiently evaluated not reviewed unknown Array 140 8922 0.0156915 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM83D His334Arg H334R not reviewed Insufficiently evaluated not reviewed unknown Array 87 10142 0.00857819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM83D Gly357Asp G357D not reviewed Insufficiently evaluated not reviewed unknown Array rs73908214 221 10146 0.021782 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM83E Arg446Gln R446Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73579553 136 9536 0.0142617 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FAM83E Pro311Leu P311L not reviewed Insufficiently evaluated not reviewed unknown Array rs3745728 863 8796 0.0981128 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 - 3 - - FAM83E Val235Met V235M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10394 0.000481046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - FAM83E Arg216His R216H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10512 0.00114155 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - FAM83E Thr91Ala T91A not reviewed Insufficiently evaluated not reviewed unknown Array rs447802 3548 10346 0.342934 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM83F Arg436Gly R436G not reviewed Insufficiently evaluated not reviewed unknown Array rs5995794 2952 10746 0.274707 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 1 N - - FAM83G Gly290Val G290V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - FAM83G Arg279Trp R279W not reviewed Insufficiently evaluated not reviewed unknown Array rs58145896 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FAM83G Ile109Thr I109T not reviewed Insufficiently evaluated not reviewed unknown Array rs2074283 1098 9812 0.111904 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM83H Ala1113Val A1113V not reviewed Insufficiently evaluated not reviewed unknown Array 78 9888 0.00788835 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - 2 - 1 N - - FAM83H Ser788Asn S788N not reviewed Insufficiently evaluated not reviewed unknown Array rs56148058 156 8956 0.0174185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - FAM83H Pro637Leu P637L not reviewed Insufficiently evaluated not reviewed unknown Array 255 8250 0.0309091 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FAM83H Gln201His Q201H not reviewed Insufficiently evaluated not reviewed unknown Array rs9969600 11 10280 0.00107004 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM84B Pro278Arg P278R not reviewed Insufficiently evaluated not reviewed unknown Array 253 10636 0.0237871 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.872 - - 5 Y 2 N - - FAM84B Pro71Thr P71T not reviewed Insufficiently evaluated not reviewed unknown Array 36 9846 0.00365631 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM86A His238Asp H238D not reviewed Insufficiently evaluated not reviewed unknown Array rs12928528 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM86A His272Asp H272D not reviewed Insufficiently evaluated not reviewed unknown Array rs12928528 3055 7514 0.406574 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - FAM86A Ala197Thr A197T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM86A Ala231Thr A231T not reviewed Insufficiently evaluated not reviewed unknown Array 10 6808 0.00146886 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - FAM86B1 Asn252His N252H not reviewed Insufficiently evaluated not reviewed unknown Array 417 7122 0.058551 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM86B2 Gln240His Q240H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM86B2 Met232Thr M232T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM86B2 Leu96Pro L96P not reviewed Insufficiently evaluated not reviewed unknown Array 60 3230 0.0185759 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM86C Ala7Ser A7S not reviewed Insufficiently evaluated not reviewed unknown Array rs12283300 3326 9452 0.351883 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.195 - - -1 - 0 N - - FAM86C Arg30Pro R30P not reviewed Insufficiently evaluated not reviewed unknown Array rs12283346 2665 8438 0.315833 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 5 Y 1 N - - FAM86C Val70Ala V70A not reviewed Insufficiently evaluated not reviewed unknown Array rs3935309 3665 10598 0.34582 21 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM86C Asn110Lys N110K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM86C Asn117Lys N117K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - FAM86C Asn83Lys N83K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM86C Cys122Arg C122R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM86C Cys129Arg C129R not reviewed Insufficiently evaluated not reviewed unknown Array 600 10758 0.0557724 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 1 N - - FAM86C Cys95Arg C95R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM86C Pro101Leu P101L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM86C Pro128Leu P128L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM86C Pro135Leu P135L not reviewed Insufficiently evaluated not reviewed unknown Array rs57679800 712 10758 0.0661833 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 1 N - - FAM86C Gly107Arg G107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM86C Gly134Arg G134R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM86C Gly141Arg G141R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 1 N - - FAM86C Arg112Trp R112W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM86C Arg139Trp R139W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM86C Arg146Trp R146W not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - FAM90A1 Pro453Ser P453S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM90A1 Gly436Ala G436A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM90A1 Ala384Thr A384T not reviewed Insufficiently evaluated not reviewed unknown Array 9 9784 0.000919869 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM90A1 Thr348Ile T348I not reviewed Insufficiently evaluated not reviewed unknown Array rs9668474 10614 10750 0.987349 40 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM90A1 Pro334Leu P334L not reviewed Insufficiently evaluated not reviewed unknown Array rs17855656 1353 10696 0.126496 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 1 N - - FAM90A1 Pro263Leu P263L not reviewed Insufficiently evaluated not reviewed unknown Array 73 10370 0.00703954 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FAM90A1 Ser255Arg S255R not reviewed Insufficiently evaluated not reviewed unknown Array 372 10334 0.0359977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - FAM90A1 Val254Ala V254A not reviewed Insufficiently evaluated not reviewed unknown Array 443 10288 0.0430599 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - FAM90A1 Val254Ile V254I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM90A1 Thr137Ala T137A not reviewed Insufficiently evaluated not reviewed unknown Array 253 10758 0.0235174 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 1 - 1 N - - FAM90A1 Arg123Gly R123G not reviewed Insufficiently evaluated not reviewed unknown Array rs9738115 7263 10744 0.676005 5 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM90A1 Pro109Gln P109Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM90A1 Ala91Gly A91G not reviewed Insufficiently evaluated not reviewed unknown Array 393 10758 0.036531 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM90A1 Thr53Met T53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM90A1 Arg4Cys R4C not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM90A7 Glu141Asp E141D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM91A1 Cys800Tyr C800Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1946586 9471 9536 0.993184 51 0 100 0 0 - - - - - - - - - - - - - - - - 0.069 - - 6 Y 0 N - - FAM92A1 Arg222Gln R222Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM92B Asp55Asn D55N not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - FAM92B Glu22Lys E22K not reviewed Insufficiently evaluated not reviewed unknown Array rs9934891 214 10758 0.0198922 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 3 - 2 - - FAM98B Gly346Ser G346S not reviewed Insufficiently evaluated not reviewed unknown Array 16 6452 0.00247985 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM98C Ala3Pro A3P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM98C Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs3745961 77 6292 0.0122378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - FAM98C Thr160Ile T160I not reviewed Insufficiently evaluated not reviewed unknown Array 113 10236 0.0110395 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - FAM98C Trp211Arg W211R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10528 0.00218465 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FAM98C Thr240Lys T240K not reviewed Insufficiently evaluated not reviewed unknown Array rs3745962 255 10714 0.0238006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.485 - - 3 - 1 N - - FANCA Thr1328Ala T1328A not reviewed Insufficiently evaluated not reviewed unknown Array rs9282681 525 10236 0.0512896 12 0 12 1 0 - - - - - - - - - - - - Y - - - 0.778 Y Y 1 - 3 - 2 - - FANCA Val1287Ile V1287I not reviewed Insufficiently evaluated not reviewed unknown Array rs17227354 295 10758 0.0274215 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.349 Y Y -4 - 4 - 2 - - FANCA Ser1088Phe S1088F benign Low clinical importance, Uncertain benign undefined Array rs17233497 629 10758 0.0584681 7 0 8 2 2 ! Y - - 3 Y 1 - 0 - 0 - Y - - - - Y Y 5 Y Fanconi Anemia 1 35 1 113 3.229 3 - 4 0 0 Probably benign. One report hypothesized this variant causing Fanconi Anemia, but the allele frequency (3-7%) is high enough to contradict a highly penetrant pathogenic effect. Later authors have concluded this is a polymorphism, not pathogenic. FANCA Gly809Asp G809D not reviewed Insufficiently evaluated not reviewed unknown Array rs7195066 4669 10758 0.434003 56 0 84 1 1 1 Y - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 2 - - This is a benign polymorphism (PMID: 9399890). FANCA Met717Ile M717I benign Low clinical importance, Likely benign unknown Array rs1131660 233 10758 0.0216583 2 0 2 1 1 1 Y - - 4 Y - - - - - - Y - - - - Y Y -1 - 4 Y 0 1 Rare polymorphism, not considered pathogenic. FANCA Pro643Arg P643R not reviewed Insufficiently evaluated not reviewed unknown Array rs34592408 64 10042 0.00637323 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 1 - - FANCA Pro643Ala P643A not reviewed Insufficiently evaluated not reviewed unknown Array rs17232910 489 10040 0.0487052 9 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 2 - - FANCA Gly501Ser G501S not reviewed Insufficiently evaluated not reviewed unknown Array rs2239359 5197 10758 0.483082 65 0 91 1 1 2 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 9 - - This is a benign polymorphism (PMID: 9399890). FANCA Ala412Val A412V not reviewed Insufficiently evaluated not reviewed unknown Array rs11646374 633 10758 0.0588399 9 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - FANCA Ile311Thr I311T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FANCA Thr266Ala T266A not reviewed Insufficiently evaluated not reviewed unknown Array rs7190823 5464 10758 0.507901 64 0 95 1 1 2 Y - - - - - - - - - - Y - - - 0.778 Y Y 1 - 3 - 10 - - This is a benign polymorphism (PMID: 9399890). FANCA Asp252Gly D252G not reviewed Insufficiently evaluated not reviewed unknown Array rs17225943 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.955 Y Y 4 Y 5 - 1 - - FANCC Gly401Glu G401E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANCC Ala336Ser A336S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.691 Y Y -1 - 3 N - - FANCD2 Asn405Ser N405S not reviewed Insufficiently evaluated not reviewed unknown Array 2482 10758 0.230712 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 0 - 2 N - - FANCD2 Leu456Arg L456R pathogenic Insufficiently evaluated pathogenic recessive Array rs35782247 379 10758 0.0352296 2 0 2 1 1 2 Y - - 0 Y 1 - 4 - 4 - Y - - - 0.469 Y Y 6 Y 4 - 3 - - This variant was found in two African American siblings as part of a compound heterozgyote (with R253X) with Fanconi Anemia D2, but a lack of information on the variant allele frequency in controls means significance cannot be assessed. FANCD2 Gln623Pro Q623P not reviewed Insufficiently evaluated not reviewed unknown Array 300 10714 0.0280007 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.79 Y Y 4 Y 3 N - - FANCD2 Pro714Leu P714L not reviewed Insufficiently evaluated not reviewed unknown Array rs3864017 1529 10758 0.142127 22 0 26 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 4 - - FANCD2 Gln802His Q802H not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.658 Y Y -1 - 3 N - - FANCE Ala502Thr A502T not reviewed Insufficiently evaluated not reviewed unknown Array rs9462088 1640 10758 0.152445 19 0 22 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 3 - 9 - - FANCF Asp125Asn D125N not reviewed Insufficiently evaluated not reviewed unknown Array 81 10734 0.00754612 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.906 Y Y -1 - 4 N - - FANCG Arg513Gln R513Q pathogenic Low clinical importance, Uncertain pathogenic dominant Array rs17885240 77 10758 0.00715746 2 0 1 1 1 ! Y 0 Y 0 Y 0 Y 4 - 3 - Y - - - 0.048 Y Y 0 - 3 - 5 0 0 Rare polymorphism. Hypothesized to increase susceptibility to childhood acute myeloid leukemia, but the numbers in the study failed to have statistical significance. FANCG Ser378Leu S378L not reviewed Insufficiently evaluated not reviewed unknown Array rs4986939 383 10758 0.0356014 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 6 Y 5 - 4 - - FANCI Pro55Leu P55L benign Low clinical importance, Likely benign unknown Array rs62020347 546 10758 0.0507529 7 0 7 1 1 ! Y 2 Y 5 Y - - - - - - Y - - - - Y Y 7 Y 3 - 7 0 1 Probably benign. FANCI Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array rs17803620 3047 10758 0.283231 23 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - FANCI Ile404Thr I404T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FANCI Cys742Ser C742S not reviewed Insufficiently evaluated not reviewed unknown Array rs2283432 3084 10756 0.286724 24 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - FANCI Ile877Leu I877L not reviewed Insufficiently evaluated not reviewed unknown Array rs35875311 298 3234 0.0921459 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - FANCI Arg884Ser R884S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FANCI Arg944Ser R944S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FANCL Ser7Arg S7R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.127 Y Y 3 - 3 - 1 - - FANCL Glu5Gly E5G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.947 Y Y 6 Y 5 - 2 - - FANCM Ser175Phe S175F not reviewed Insufficiently evaluated not reviewed unknown Array rs10138997 1845 10758 0.1715 20 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 - 2 - - FANCM Ile208Met I208M not reviewed Insufficiently evaluated not reviewed unknown Array rs45547534 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.548 Y Y -1 - 3 N - - FANCM Val878Leu V878L not reviewed Insufficiently evaluated not reviewed unknown Array rs1367580 2021 10710 0.188702 20 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - FANCM Asn1253Ser N1253S not reviewed Insufficiently evaluated not reviewed unknown Array rs45604036 228 10758 0.0211935 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - FANCM Ile1460Val I1460V not reviewed Insufficiently evaluated not reviewed unknown Array rs78211950 788 10746 0.0733296 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y -4 - 2 N - - FANCM Pro1812Ala P1812A not reviewed Insufficiently evaluated not reviewed unknown Array rs3736772 808 10758 0.0751069 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.958 Y Y 2 - 3 N - - FANCM Asn1876Ser N1876S not reviewed Insufficiently evaluated not reviewed unknown Array rs45557033 228 10758 0.0211935 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 2 N - - FANK1 Pro12Leu P12L not reviewed Insufficiently evaluated not reviewed unknown Array rs17153879 26 10758 0.00241681 2 0 2 0 0 1 Y - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 5 - - FANK1 Arg46Ser R46S not reviewed Insufficiently evaluated not reviewed unknown Array rs17153882 272 10758 0.0252835 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 1 - 8 - - FANK1 Cys343Phe C343F not reviewed Insufficiently evaluated not reviewed unknown Array rs17153976 33 10758 0.00306748 2 0 2 0 0 1 Y - - - - - - - - - - - - - - 0.989 - - 4 Y 3 - 6 - - FAR1 Glu96Lys E96K not reviewed Insufficiently evaluated not reviewed unknown Array rs12793516 37 10754 0.00344058 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.152 - - 0 - 0 N - - FARP1 Thr68Ile T68I not reviewed Insufficiently evaluated not reviewed unknown Array rs7318267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FARP2 Gln93Glu Q93E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - FARP2 Lys185Asn K185N not reviewed Insufficiently evaluated not reviewed unknown Array rs16843643 435 10758 0.040435 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.531 - - 1 - 1 N - - FARP2 Thr260Ile T260I not reviewed Insufficiently evaluated not reviewed unknown Array rs757978 1154 10758 0.107269 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - FARP2 Val643Ile V643I not reviewed Insufficiently evaluated not reviewed unknown Array rs41342147 1268 10758 0.117866 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - FARP2 Lys842Gln K842Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61753865 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - -2 - 2 N - - FARP2 Ser896Phe S896F not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - FARS2 Asn280Ser N280S not reviewed Insufficiently evaluated not reviewed unknown Array rs11243011 1612 10758 0.149842 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FARSA Gln341Arg Q341R not reviewed Insufficiently evaluated not reviewed unknown Array rs35087277 228 10758 0.0211935 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 1 - 4 - - FARSA Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FARSB Val585Ile V585I not reviewed Insufficiently evaluated not reviewed unknown Array rs7185 8687 10758 0.807492 55 0 91 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAS Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array rs3218619 435 10758 0.040435 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 1 - 3 - 10 - - FASN Val2005Ala V2005A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228306 257 10756 0.0238936 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - FASN Ile1888Val I1888V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228307 333 10752 0.030971 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FASN Pro1667Ser P1667S not reviewed Insufficiently evaluated not reviewed unknown Array rs45557233 6 10202 0.000588119 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FASN Val1483Ile V1483I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228305 379 9928 0.0381749 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - FASN Gly1308Asp G1308D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FASN Cys1186Phe C1186F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FASN Glu719Lys E719K not reviewed Insufficiently evaluated not reviewed unknown Array 60 10576 0.00567322 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - FASTK Ala295Val A295V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FASTK Ala436Val A436V not reviewed Insufficiently evaluated not reviewed unknown Array 344 10756 0.0319821 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FASTKD1 Ala750Val A750V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FASTKD1 Met467Val M467V not reviewed Insufficiently evaluated not reviewed unknown Array rs2253680 5987 10758 0.556516 46 0 66 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FASTKD1 Glu384Gln E384Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12618227 279 10754 0.0259438 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 1 - 3 - - FASTKD2 Ser15Asn S15N not reviewed Insufficiently evaluated not reviewed unknown Array rs3762568 1412 10758 0.131251 16 0 17 0 0 - - - - - - - - - - - - Y - - - 0.497 Y - 0 - 1 N - - FASTKD2 Arg205Pro R205P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.976 Y - 5 Y 3 N - - FASTKD3 Glu459Gly E459G not reviewed Insufficiently evaluated not reviewed unknown Array rs16879259 471 10758 0.0437814 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.093 - - 6 Y 0 N - - FASTKD3 Lys56Arg K56R not reviewed Insufficiently evaluated not reviewed unknown Array rs2966952 9109 10758 0.846719 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - FASTKD3 Leu3Phe L3F not reviewed Insufficiently evaluated not reviewed unknown Array rs3733782 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - FASTKD5 Asp713Gly D713G not reviewed Insufficiently evaluated not reviewed unknown Array rs73573808 548 10758 0.0509388 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.03 - - 4 Y 0 N - - FASTKD5 Ile380Arg I380R not reviewed Insufficiently evaluated not reviewed unknown Array rs41304800 925 10758 0.0859825 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 0 N - - FASTKD5 Ile288Thr I288T not reviewed Insufficiently evaluated not reviewed unknown Array rs2422857 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 3 - - FAT1 Thr4576Met T4576M not reviewed Insufficiently evaluated not reviewed unknown Array 104 10336 0.0100619 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - FAT1 Lys4059Asn K4059N not reviewed Insufficiently evaluated not reviewed unknown Array rs1280097 9765 9814 0.995007 56 0 112 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 1 N - - FAT1 Ala3739Val A3739V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9876 0.000810044 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - FAT1 Ser3554Ala S3554A not reviewed Insufficiently evaluated not reviewed unknown Array rs2637777 4628 9842 0.47023 43 0 62 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 1 N - - FAT1 Ser3381Gly S3381G not reviewed Insufficiently evaluated not reviewed unknown Array rs73873657 88 9896 0.00889248 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - FAT1 Val3334Ala V3334A not reviewed Insufficiently evaluated not reviewed unknown Array rs28647489 1306 10120 0.129051 14 0 14 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 1 N - - FAT1 Tyr3301His Y3301H not reviewed Insufficiently evaluated not reviewed unknown Array rs73873659 97 9896 0.00980194 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - FAT1 Lys2988Ile K2988I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 6 Y 2 N - - FAT1 Gln2933Pro Q2933P not reviewed Insufficiently evaluated not reviewed unknown Array rs1280098 6110 9826 0.62182 44 0 62 0 0 3 Y - - - - - - - - - - - - - - - Y - 4 Y 1 N - - FAT1 Gln2933Leu Q2933L not reviewed Insufficiently evaluated not reviewed unknown Array rs1280098 11 128 0.0859375 8 0 8 0 0 - - - - - - - - - - - - - - - - - Y - 5 Y 1 N - - FAT1 Ile2718Val I2718V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733406 706 9680 0.0729339 7 0 7 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 2 - 2 - - FAT1 Gly2546Arg G2546R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 6 Y 2 N - - FAT1 Thr2369Pro T2369P not reviewed Insufficiently evaluated not reviewed unknown Array 232 10484 0.022129 5 0 5 0 0 - - - - - - - - - - - - - - - - - Y - 4 Y 2 N - - FAT1 Asp2274Glu D2274E not reviewed Insufficiently evaluated not reviewed unknown Array rs3796648 239 10152 0.0235422 5 0 5 0 0 - - - - - - - - - - - - - - - - - Y - -2 - 2 N - - FAT1 Asn2018Lys N2018K not reviewed Insufficiently evaluated not reviewed unknown Array rs73873662 86 9738 0.00883138 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - FAT1 Asn1662Ser N1662S not reviewed Insufficiently evaluated not reviewed unknown Array rs28489116 1292 9708 0.133086 15 0 15 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 1 N - - FAT1 Asn1605Asp N1605D not reviewed Insufficiently evaluated not reviewed unknown Array rs6836935 98 9188 0.0106661 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.307 Y - -1 - 3 - 3 - - FAT1 Thr1585Met T1585M not reviewed Insufficiently evaluated not reviewed unknown Array 68 10416 0.00652842 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 Y - 2 - 3 N - - FAT1 Val1577Leu V1577L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 Y - 0 - 1 N - - FAT1 Ala1564Thr A1564T not reviewed Insufficiently evaluated not reviewed unknown Array rs2304867 242 10400 0.0232692 5 0 5 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - FAT1 His1273Arg H1273R not reviewed Insufficiently evaluated not reviewed unknown Array rs328418 6134 9658 0.635121 42 0 64 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 1 N - - FAT1 Arg1268Gln R1268Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 9594 0.00708776 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 Y - 0 - 3 N - - FAT1 Arg1064Gly R1064G not reviewed Insufficiently evaluated not reviewed unknown Array rs11939575 8334 10050 0.829254 52 0 87 0 0 3 Y - - - - - - - - - - - - - - - Y - 6 Y 1 N - - FAT1 Val862Leu V862L not reviewed Insufficiently evaluated not reviewed unknown Array rs1877731 7891 10146 0.777745 51 0 83 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 1 N - - FAT1 Val679Ile V679I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733571 91 9738 0.00934483 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 Y - -4 - 3 N - - FAT1 Phe614Leu F614L not reviewed Insufficiently evaluated not reviewed unknown Array rs367863 7551 9644 0.782974 51 0 82 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 1 N - - FAT1 Val482Ile V482I not reviewed Insufficiently evaluated not reviewed unknown Array rs3733413 4676 10176 0.459513 26 0 37 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 1 N - - FAT1 Ser404Arg S404R not reviewed Insufficiently evaluated not reviewed unknown Array rs3733414 5256 9614 0.546703 31 0 43 0 0 - - - - - - - - - - - - - - - - - Y - 3 - 1 N - - FAT1 Ala131Val A131V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733415 2099 10306 0.203668 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.052 Y - 2 - 1 N - - FAT1 Arg26Gln R26Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10276 0.00184897 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - FAT2 Pro4117Leu P4117L not reviewed Insufficiently evaluated not reviewed unknown Array rs1105168 7026 10758 0.653095 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAT2 Thr3955Pro T3955P not reviewed Insufficiently evaluated not reviewed unknown Array rs57774012 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAT2 Met3631Ile M3631I not reviewed Insufficiently evaluated not reviewed unknown Array rs6650971 7346 10758 0.682841 47 0 73 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - FAT2 Leu3514Ser L3514S not reviewed Insufficiently evaluated not reviewed unknown Array rs2053028 7409 10758 0.688697 44 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAT2 Arg3318Gln R3318Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7718054 712 10758 0.0661833 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - FAT2 Arg3318Trp R3318W not reviewed Insufficiently evaluated not reviewed unknown Array rs2304024 1637 10758 0.152166 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 1 N - - FAT2 Ala2907Thr A2907T not reviewed Insufficiently evaluated not reviewed unknown Array rs3734053 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAT2 Ala2903Pro A2903P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAT2 Pro2840Thr P2840T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 4 Y 2 N - - FAT2 Phe2428Ser F2428S not reviewed Insufficiently evaluated not reviewed unknown Array rs6892335 10719 10758 0.996375 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAT2 Gly2054Ala G2054A not reviewed Insufficiently evaluated not reviewed unknown Array rs34493925 137 10758 0.0127347 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - FAT2 Val1849Ile V1849I not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAT2 Gly1571Ser G1571S not reviewed Insufficiently evaluated not reviewed unknown Array rs10044879 395 10758 0.0367169 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.3 - - 2 - 2 - 5 - - FAT2 Gly1515Ser G1515S not reviewed Insufficiently evaluated not reviewed unknown Array rs2278370 575 10758 0.0534486 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAT2 Asp1513Asn D1513N not reviewed Insufficiently evaluated not reviewed unknown Array rs61743237 132 10758 0.0122699 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.536 - - -1 - 1 N - - FAT2 Val1462Met V1462M not reviewed Insufficiently evaluated not reviewed unknown Array rs2278371 588 10758 0.054657 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAT2 Tyr1181His Y1181H not reviewed Insufficiently evaluated not reviewed unknown Array rs6872614 10713 10758 0.995817 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAT2 Pro1164Leu P1164L not reviewed Insufficiently evaluated not reviewed unknown Array rs2304053 4876 10758 0.453244 31 0 40 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - FAT2 Gly1004Ser G1004S not reviewed Insufficiently evaluated not reviewed unknown Array rs3734055 5153 10758 0.478992 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAT2 Phe686Ser F686S not reviewed Insufficiently evaluated not reviewed unknown Array rs9324700 5383 10758 0.500372 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAT2 Arg574Cys R574C not reviewed Insufficiently evaluated not reviewed unknown Array rs1432862 5354 10758 0.497676 37 0 50 0 0 - - - - - - - - - - - - - - - - 0.967 - - 8 Y 1 N - - FAT2 Asp425Asn D425N not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FAT2 Pro248Ser P248S not reviewed Insufficiently evaluated not reviewed unknown Array rs3734061 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 2 N - - FAT3 Ser412Phe S412F not reviewed Insufficiently evaluated not reviewed unknown Array rs10830902 742 9642 0.076955 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 1 - 4 - - FAT3 Arg894Gln R894Q not reviewed Insufficiently evaluated not reviewed unknown Array 41 9756 0.00420254 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAT3 Ile1693Val I1693V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAT3 Gln1726Arg Q1726R not reviewed Insufficiently evaluated not reviewed unknown Array rs7949157 7976 10016 0.796326 55 0 85 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FAT3 Ile2755Val I2755V not reviewed Insufficiently evaluated not reviewed unknown Array rs3847531 8067 9808 0.822492 56 0 94 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAT3 Thr3011Ile T3011I not reviewed Insufficiently evaluated not reviewed unknown Array 5 9940 0.000503018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - FAT3 Gln3375Arg Q3375R not reviewed Insufficiently evaluated not reviewed unknown Array 4 9746 0.000410424 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - FAT3 Val3518Leu V3518L not reviewed Insufficiently evaluated not reviewed unknown Array rs10765565 3506 10330 0.3394 33 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAT3 Ser3812Gly S3812G not reviewed Insufficiently evaluated not reviewed unknown Array rs4753069 8563 10192 0.840169 55 0 97 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAT3 Asn4288Thr N4288T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 1 - 2 N - - FAT4 Gln453Leu Q453L not reviewed Insufficiently evaluated not reviewed unknown Array rs6847454 4703 10138 0.463898 32 0 46 0 0 - - - - - - - - - - - - - - - - 0.01 - - 5 Y 0 N - - FAT4 Ala807Val A807V not reviewed Insufficiently evaluated not reviewed unknown Array rs1039808 4709 10142 0.464307 37 0 54 0 0 - - - - - - - - - - - - - - - - 0.799 - - 2 - 0 N - - FAT4 Gln1257Glu Q1257E not reviewed Insufficiently evaluated not reviewed unknown Array rs36052762 375 9622 0.0389732 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.865 - - -2 - 2 N - - FAT4 Ser2451Ile S2451I not reviewed Insufficiently evaluated not reviewed unknown Array rs72914988 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.784 - - 5 Y 1 N - - FAT4 Asp2826Asn D2826N not reviewed Insufficiently evaluated not reviewed unknown Array rs12508222 124 10746 0.0115392 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.963 - - -1 - 3 - 4 - - FAT4 His3215Tyr H3215Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73849225 1504 10758 0.139803 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.932 - - -1 - 1 N - - FAT4 Gly3524Asp G3524D not reviewed Insufficiently evaluated not reviewed unknown Array rs1567047 2414 10758 0.224391 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 1 N - - FAT4 Tyr3546Cys Y3546C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - FAT4 Ile3602Leu I3602L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - -2 - 1 N - - FAT4 Thr3616Met T3616M not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - 2 - 1 N - - FAT4 Ser3873Asn S3873N not reviewed Insufficiently evaluated not reviewed unknown Array rs12650153 10675 10758 0.992285 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAT4 Arg4022Gln R4022Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28515675 92 10758 0.00855177 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 3 - 1 - - FAT4 Ala4064Val A4064V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 2 N - - FAT4 Ser4456Leu S4456L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 6 Y 1 N - - FAT4 Arg4726Lys R4726K not reviewed Insufficiently evaluated not reviewed unknown Array rs72675395 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - FAT4 Pro4972Ser P4972S not reviewed Insufficiently evaluated not reviewed unknown Array rs1014867 544 10758 0.050567 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FATE1 Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array rs3810715 720 8064 0.0892857 12 0 17 0 0 - - - - - - - - - - - - - - - - 0.603 - - 2 - 0 N - - FBF1 Glu938Lys E938K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBF1 Ala680Val A680V not reviewed Insufficiently evaluated not reviewed unknown Array 215 10120 0.0212451 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBF1 Cys573Ser C573S not reviewed Insufficiently evaluated not reviewed unknown Array rs7213548 1229 10040 0.12241 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FBF1 Pro370Ser P370S not reviewed Insufficiently evaluated not reviewed unknown Array rs7218738 1251 10296 0.121503 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FBF1 Arg151Gly R151G not reviewed Insufficiently evaluated not reviewed unknown Array rs2305913 4745 9992 0.47488 35 0 53 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - FBF1 Gly65Val G65V not reviewed Insufficiently evaluated not reviewed unknown Array rs1135889 1958 9854 0.198701 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FBLIM1 Ser191Phe S191F not reviewed Insufficiently evaluated not reviewed unknown Array rs10927851 6570 10758 0.610708 46 0 73 0 0 - - - - - - - - - - - - - - - - 0.895 - - 5 Y 1 N - - FBLIM1 Ser94Phe S94F not reviewed Insufficiently evaluated not reviewed unknown Array rs10927851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBLIM1 Gly311Arg G311R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN1 Gln141Arg Q141R not reviewed Insufficiently evaluated not reviewed unknown Array rs136730 10741 10758 0.99842 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBLN2 His144Arg H144R not reviewed Insufficiently evaluated not reviewed unknown Array rs28587534 1134 10424 0.108787 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBLN2 Glu361Gly E361G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN2 Gln387His Q387H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBLN2 Arg404Gly R404G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN2 Met836Val M836V not reviewed Insufficiently evaluated not reviewed unknown Array rs2242023 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBLN2 Met883Val M883V not reviewed Insufficiently evaluated not reviewed unknown Array rs2242023 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBLN2 Asp854Gly D854G not reviewed Insufficiently evaluated not reviewed unknown Array rs9843344 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBLN2 Asp901Gly D901G not reviewed Insufficiently evaluated not reviewed unknown Array rs9843344 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBLN2 Trp896Arg W896R not reviewed Insufficiently evaluated not reviewed unknown Array rs4684968 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Trp943Arg W943R not reviewed Insufficiently evaluated not reviewed unknown Array rs4684968 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Pro1015Leu P1015L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Pro968Leu P968L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Gly1114Arg G1114R not reviewed Insufficiently evaluated not reviewed unknown Array rs1061375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN2 Gly1161Arg G1161R not reviewed Insufficiently evaluated not reviewed unknown Array rs1061375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN2 Arg1158Cys R1158C not reviewed Insufficiently evaluated not reviewed unknown Array rs1061376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBLN2 Arg1205Cys R1205C not reviewed Insufficiently evaluated not reviewed unknown Array rs1061376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBLN5 Asp157Asn D157N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y -1 - 2 N - - FBLN7 Val119Met V119M not reviewed Insufficiently evaluated not reviewed unknown Array rs35586251 329 10758 0.0305819 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 1 - 3 - - FBN1 Gly2619Glu G2619E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FBN1 Cys2061Trp C2061W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FBN1 Asn1484Asp N1484D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FBN1 Pro1148Ala P1148A not reviewed Insufficiently evaluated not reviewed unknown Array rs140598 44 10758 0.00408998 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - FBN1 Ile1114Val I1114V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FBN1 Cys472Tyr C472Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4775765 128 128 1 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - FBN2 Thr2672Ile T2672I not reviewed Insufficiently evaluated not reviewed unknown Array rs58095366 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FBN2 Ser2580Leu S2580L benign Low clinical importance, Uncertain benign dominant Array rs2291628 839 10758 0.0779885 9 0 11 4 4 0 - - - 3 Y - - - - - - Y - - - - Y Y 6 Y Congenital Contractural Arachnodactyly 0 49 3 37 0.000 2 N 0 0 Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism. FBN2 Arg2473Leu R2473L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FBN2 Met2311Val M2311V not reviewed Insufficiently evaluated not reviewed unknown Array rs32209 1087 10758 0.101041 19 0 25 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - FBN2 Val965Ile V965I not reviewed Insufficiently evaluated not reviewed unknown Array rs154001 7151 10758 0.664715 51 0 84 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - FBN2 Asn522Ile N522I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FBN2 Arg347His R347H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FBN2 Ile243Thr I243T not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FBN2 Gln226Arg Q226R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN3 Arg2727Gln R2727Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10740 0.000186219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBN3 Glu2610Asp E2610D not reviewed Insufficiently evaluated not reviewed unknown Array rs7257948 6928 10758 0.643986 46 0 76 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FBN3 Ala2582Val A2582V not reviewed Insufficiently evaluated not reviewed unknown Array rs73923958 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBN3 Arg2471His R2471H not reviewed Insufficiently evaluated not reviewed unknown Array rs3848570 384 10758 0.0356944 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBN3 Ser2314Asn S2314N not reviewed Insufficiently evaluated not reviewed unknown Array rs17160151 825 10710 0.0770308 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBN3 Thr2290Ile T2290I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10 0.1 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FBN3 Ser2027Trp S2027W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBN3 His1966Asp H1966D not reviewed Insufficiently evaluated not reviewed unknown Array rs34167077 838 10756 0.07791 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FBN3 Pro1958His P1958H not reviewed Insufficiently evaluated not reviewed unknown Array rs7245429 3627 10758 0.337144 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FBN3 Leu1904Phe L1904F not reviewed Insufficiently evaluated not reviewed unknown Array rs12608849 2125 10758 0.197527 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBN3 Asn1869Lys N1869K not reviewed Insufficiently evaluated not reviewed unknown Array rs12150963 1112 10758 0.103365 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 8 - - FBN3 Glu1850Lys E1850K not reviewed Insufficiently evaluated not reviewed unknown Array rs10404519 94 10758 0.00873768 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBN3 Arg1806Gln R1806Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3829817 2193 10756 0.203886 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBN3 Gly1614Ser G1614S not reviewed Insufficiently evaluated not reviewed unknown Array rs33967815 2650 10758 0.246328 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBN3 Asn1431Ile N1431I not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - FBN3 Val1326Ile V1326I not reviewed Insufficiently evaluated not reviewed unknown Array rs12975322 2691 10758 0.250139 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FBN3 Ser1293Gly S1293G not reviewed Insufficiently evaluated not reviewed unknown Array rs4804063 2196 10758 0.204127 13 0 15 0 0 - 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- - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - FBN3 Asp868Asn D868N not reviewed Insufficiently evaluated not reviewed unknown Array rs35025963 2451 10714 0.228766 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FBN3 Asp662Asn D662N not reviewed Insufficiently evaluated not reviewed unknown Array rs4804271 10709 10758 0.995445 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FBN3 Val542Ile V542I not reviewed Insufficiently evaluated not reviewed unknown Array rs36124795 433 10746 0.0402941 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FBN3 Arg473Gln R473Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35277492 212 10756 0.0197099 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - FBN3 Met371Ile M371I not reviewed Insufficiently evaluated not reviewed unknown Array rs35999680 201 10744 0.0187081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - FBN3 Pro329Leu P329L not reviewed Insufficiently evaluated not reviewed unknown Array rs7246376 2262 10752 0.210379 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FBN3 Gly119Ala G119A not reviewed Insufficiently evaluated not reviewed unknown Array rs3813773 1 9868 0.000101337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - FBN3 Asn58Ser N58S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBP1 Phe233Ile F233I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FBP1 Arg218Lys R218K not reviewed Insufficiently evaluated not reviewed unknown Array rs1769259 10265 10758 0.954174 37 0 63 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 1 N - - FBP2 Val86Leu V86L not reviewed Insufficiently evaluated not reviewed unknown Array rs573212 9558 10758 0.888455 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBRSL1 Thr63Ala T63A not reviewed Insufficiently evaluated not reviewed unknown Array 1671 1852 0.902268 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBRSL1 Ala836Val A836V not reviewed Insufficiently evaluated not reviewed unknown Array 1045 2624 0.398247 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBXL12 Met326Ile M326I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - -1 - 2 N - - FBXL13 Tyr565Cys Y565C not reviewed Insufficiently evaluated not reviewed unknown Array rs17136118 21 10590 0.001983 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.554 - - 6 Y 2 - 4 - - FBXL13 Gly313Ala G313A not reviewed Insufficiently evaluated not reviewed unknown Array rs17135923 703 10758 0.0653467 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - FBXL13 Val273Ile V273I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - -4 - 0 N - - FBXL13 Ala129Pro A129P not reviewed Insufficiently evaluated not reviewed unknown Array rs61749912 584 10748 0.0543357 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBXL13 Ile74Met I74M not reviewed Insufficiently evaluated not reviewed unknown Array rs7805950 10422 10756 0.968948 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FBXL15 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10534 0.00313271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - FBXL16 Ala242Glu A242E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - FBXL16 Thr54Ile T54I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - FBXL18 Asn552Ser N552S not reviewed Insufficiently evaluated not reviewed unknown Array 102 10300 0.00990291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FBXL18 Leu162Met L162M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - -3 - 1 N - - FBXL18 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10502 0.00409446 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - FBXL19 Glu10Lys E10K not reviewed Insufficiently evaluated not reviewed unknown Array rs35675346 2282 9462 0.241175 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBXL21 Pro209Leu P209L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXL22 Val109Leu V109L not reviewed Insufficiently evaluated not reviewed unknown Array rs8035931 1027 10758 0.0954638 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.257 - - 0 - 0 N - - FBXL6 Leu380Pro L380P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 7 Y 0 N - - FBXL6 Leu386Pro L386P not reviewed Insufficiently evaluated not reviewed unknown Array 73 10756 0.00678691 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FBXL6 Gly265Ala G265A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXL6 Gly271Ala G271A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746974 708 10758 0.0658115 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 1 N - - FBXL7 His98Tyr H98Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - FBXO10 Ser683Asn S683N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO10 Val567Ile V567I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FBXO15 Tyr420His Y420H not reviewed Insufficiently evaluated not reviewed unknown Array rs35815390 2 128 0.015625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - FBXO15 Tyr496His Y496H not reviewed Insufficiently evaluated not reviewed unknown Array 607 10758 0.0564231 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FBXO15 Leu168Val L168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - FBXO15 Leu244Val L244V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO16 Thr255Asn T255N not reviewed Insufficiently evaluated not reviewed unknown Array rs7016831 1042 10758 0.0968582 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FBXO16 Met254Ile M254I not reviewed Insufficiently evaluated not reviewed unknown Array rs1390963 4584 10758 0.426102 35 0 48 0 0 - - - - - - - - - - - - - - - - 0.133 - - -1 - 0 N - - FBXO17 Asp175Gly D175G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - FBXO17 Asp184Gly D184G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXO18 Cys110Tyr C110Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO18 Cys59Tyr C59Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO2 Lys118Thr K118T not reviewed Insufficiently evaluated not reviewed unknown Array rs9614 1961 10740 0.182588 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 1 N - - FBXO21 Glu482Lys E482K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO21 Glu489Lys E489K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - FBXO24 Thr536Met T536M not reviewed Insufficiently evaluated not reviewed unknown Array rs11768465 37 128 0.289062 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBXO25 Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array rs10090550 5765 10758 0.53588 44 0 70 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBXO25 Ile46Met I46M not reviewed Insufficiently evaluated not reviewed unknown Array rs28438773 1477 10634 0.138894 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - FBXO27 Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - FBXO3 Arg469Ser R469S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXO30 His583Gln H583Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3811102 3691 10756 0.343157 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 1 N - - FBXO30 Val375Met V375M not reviewed Insufficiently evaluated not reviewed unknown Array rs9373475 3834 10758 0.356386 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBXO31 Arg251Gly R251G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO32 Asn56Ser N56S not reviewed Insufficiently evaluated not reviewed unknown Array rs6988591 835 10758 0.0776167 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 0 N - - FBXO32 Leu26Val L26V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO33 Gly152Cys G152C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 7 Y 1 N - - FBXO33 Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array rs7147177 165 10560 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FBXO34 Pro352Ser P352S not reviewed Insufficiently evaluated not reviewed unknown Array rs74050979 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - FBXO34 Ser469Phe S469F not reviewed Insufficiently evaluated not reviewed unknown Array rs59719421 217 10758 0.020171 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 1 N - - FBXO34 Ile470Asn I470N not reviewed Insufficiently evaluated not reviewed unknown Array rs1045002 3937 10758 0.36596 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FBXO34 Leu533Pro L533P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742569 4643 10758 0.431586 38 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FBXO34 Gly704Val G704V not reviewed Insufficiently evaluated not reviewed unknown Array rs10138395 309 10758 0.0287228 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - FBXO36 Leu86Phe L86F not reviewed Insufficiently evaluated not reviewed unknown Array rs1035834 2404 10756 0.223503 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBXO38 Ser592Pro S592P not reviewed Insufficiently evaluated not reviewed unknown Array rs10043775 2908 10758 0.27031 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FBXO38 Gln1007Lys Q1007K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - -2 - 1 N - - FBXO38 Gln932Lys Q932K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXO39 Pro10Ser P10S not reviewed Insufficiently evaluated not reviewed unknown Array rs4796555 2344 10758 0.217884 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.793 - - 3 - 0 N - - FBXO39 Tyr166Cys Y166C not reviewed Insufficiently evaluated not reviewed unknown Array rs16956264 1688 10758 0.156906 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - FBXO39 Ser221Thr S221T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 1 - 3 - - FBXO39 Leu231Phe L231F not reviewed Insufficiently evaluated not reviewed unknown Array rs1509123 609 10758 0.056609 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FBXO39 Ile363Met I363M not reviewed Insufficiently evaluated not reviewed unknown Array rs7213731 2158 10758 0.200595 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FBXO40 Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 3 - 1 - - FBXO40 Val87Ala V87A not reviewed Insufficiently evaluated not reviewed unknown Array rs4676684 2997 10758 0.278583 33 0 41 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - FBXO40 Leu400Pro L400P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - FBXO41 Ser515Thr S515T not reviewed Insufficiently evaluated not reviewed unknown Array rs526106 2555 9836 0.25976 32 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FBXO42 Ala509Thr A509T not reviewed Insufficiently evaluated not reviewed unknown Array rs35196193 555 10758 0.0515895 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBXO42 Pro471Ala P471A not reviewed Insufficiently evaluated not reviewed unknown Array rs12069239 4106 10758 0.381669 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBXO42 Leu382Pro L382P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - FBXO43 Arg536Gln R536Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO43 Arg570Gln R570Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 9804 0.00316197 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FBXO43 Leu272Ile L272I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXO43 Leu306Ile L306I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - -2 - 1 N - - FBXO43 Pro105Leu P105L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXO43 Pro139Leu P139L not reviewed Insufficiently evaluated not reviewed unknown Array rs2279102 480 9474 0.050665 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.738 - - 7 Y 0 N - - FBXO44 Ala212Thr A212T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO46 Pro38Thr P38T not reviewed Insufficiently evaluated not reviewed unknown Array rs11537711 1198 10020 0.119561 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FBXO47 Gln209Arg Q209R not reviewed Insufficiently evaluated not reviewed unknown Array rs9906595 10159 10758 0.94432 54 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBXO5 Leu118Phe L118F not reviewed Insufficiently evaluated not reviewed unknown Array rs7763565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO5 Leu164Phe L164F not reviewed Insufficiently evaluated not reviewed unknown Array rs7763565 966 10758 0.0897936 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 0 N - - FBXO5 Gln107Glu Q107E not reviewed Insufficiently evaluated not reviewed unknown Array rs2073260 8205 10758 0.762688 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FBXO5 Gln61Glu Q61E not reviewed Insufficiently evaluated not reviewed unknown Array rs2073260 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXO6 Arg60Gln R60Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3125818 1110 10758 0.103179 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.119 - - 0 - 0 N - - FBXO6 Ser284Leu S284L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - FBXO7 Leu12Arg L12R not reviewed Insufficiently evaluated not reviewed unknown Array rs8137714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO7 Met115Ile M115I not reviewed Insufficiently evaluated not reviewed unknown Array rs11107 4012 10758 0.372932 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FBXO7 Met36Ile M36I not reviewed Insufficiently evaluated not reviewed unknown Array rs11107 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXW10 Ile23Asn I23N not reviewed Insufficiently evaluated not reviewed unknown Array rs11544711 6319 10758 0.587377 17 0 27 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 0 N - - FBXW10 Glu236Lys E236K not reviewed Insufficiently evaluated not reviewed unknown Array rs9895749 3948 10758 0.366983 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 1 N - - FBXW10 Leu261Val L261V not reviewed Insufficiently evaluated not reviewed unknown Array 1086 10752 0.101004 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FBXW10 Arg607Cys R607C not reviewed Insufficiently evaluated not reviewed unknown Array 1014 10754 0.0942905 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - FBXW10 Ala820Thr A820T not reviewed Insufficiently evaluated not reviewed unknown Array rs1026259 942 10752 0.0876116 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBXW10 Val985Ala V985A not reviewed Insufficiently evaluated not reviewed unknown Array 201 9520 0.0211134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXW10 Val1017Ala V1017A not reviewed Insufficiently evaluated not reviewed unknown Array rs1024657 296 9078 0.0326063 25 0 36 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXW12 Pro6Leu P6L not reviewed Insufficiently evaluated not reviewed unknown Array rs17080138 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - FBXW12 Ser102Asn S102N not reviewed Insufficiently evaluated not reviewed unknown Array 499 10758 0.0463841 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXW12 Ser121Asn S121N not reviewed Insufficiently evaluated not reviewed unknown Array rs72923500 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.312 - - 0 - 0 N - - FBXW12 Arg147Trp R147W not reviewed Insufficiently evaluated not reviewed unknown Array rs6442117 5934 10758 0.551589 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FBXW12 Arg166Trp R166W not reviewed Insufficiently evaluated not reviewed unknown Array rs6442117 79 128 0.617188 44 0 66 0 0 - - - - - - - - - - - - - - - - 0.884 - - 7 Y 1 N - - FBXW12 His168Arg H168R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXW12 His219Arg H219R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXW12 His238Arg H238R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.414 - - 1 - 1 N - - FBXW12 Val203Asp V203D not reviewed Insufficiently evaluated not reviewed unknown Array rs6784322 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBXW12 Val254Asp V254D not reviewed Insufficiently evaluated not reviewed unknown Array rs6784322 4581 10758 0.425823 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FBXW12 Val273Asp V273D not reviewed Insufficiently evaluated not reviewed unknown Array rs6784322 45 128 0.351562 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FBXW8 Arg58Gly R58G not reviewed Insufficiently evaluated not reviewed unknown Array rs11068230 1438 1644 0.874696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FBXW8 Arg126Gln R126Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4076700 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXW8 Arg192Gln R192Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4076700 7088 10758 0.658859 39 0 57 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 1 N - - FBXW8 Thr470Met T470M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - FBXW8 Thr536Met T536M not reviewed Insufficiently evaluated not reviewed unknown Array rs3741466 4 10758 0.000371816 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 1 - 5 - - FBXW8 Arg487Gln R487Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXW8 Arg553Gln R553Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FBXW8 Val497Met V497M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 3 - 2 - - FBXW8 Val563Met V563M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 2 - - FBXW9 Asn375Ser N375S not reviewed Insufficiently evaluated not reviewed unknown Array rs73921601 674 10758 0.0626511 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBXW9 Trp228Leu W228L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - FBXW9 Thr219Ala T219A not reviewed Insufficiently evaluated not reviewed unknown Array rs10424623 1535 10360 0.148166 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.148 - - 1 - 0 N - - FBXW9 Arg70Lys R70K not reviewed Insufficiently evaluated not reviewed unknown Array rs6511833 1331 9708 0.137103 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - FCAMR Val109Ile V109I not reviewed Insufficiently evaluated not reviewed unknown Array rs74148895 11 7820 0.00140665 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FCAMR Val134Ile V134I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FCAR Asp101Asn D101N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCAR Asp113Asn D113N not reviewed Insufficiently evaluated not reviewed unknown Array rs11666735 754 10758 0.0700874 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FCAR Ser160Gly S160G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCAR Ser161Gly S161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCAR Ser173Gly S173G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCAR Ser235Gly S235G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCAR Ser247Gly S247G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCAR Ser257Gly S257G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCAR Ser269Gly S269G not reviewed Insufficiently evaluated not reviewed unknown Array rs16986050 2405 10758 0.223555 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.941 - - 2 - 1 N - - FCAR Phe170Ser F170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCAR Phe171Ser F171S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCAR Phe183Ser F183S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCAR Phe245Ser F245S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCAR Phe257Ser F257S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - FCAR Phe267Ser F267S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCAR Phe279Ser F279S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - FCER1G His81Asn H81N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - FCER2 Arg62Trp R62W not reviewed Insufficiently evaluated not reviewed unknown Array rs2228137 2137 10758 0.198643 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.947 - - 7 Y 1 N - - FCER2 Pro13Ala P13A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 2 - 2 N - - FCGBP Arg5217His R5217H not reviewed Insufficiently evaluated not reviewed unknown Array 268 10758 0.0249117 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.116 - - 1 - 0 N - - FCGBP Ala5017Val A5017V not reviewed Insufficiently evaluated not reviewed unknown Array rs741143 2230 10750 0.207442 20 0 26 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FCGBP Arg4909His R4909H not reviewed Insufficiently evaluated not reviewed unknown Array 484 10758 0.0449898 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - FCGBP Asp4906His D4906H not reviewed Insufficiently evaluated not reviewed unknown Array rs3746013 2374 10758 0.220673 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 1 N - - FCGBP Pro4665Leu P4665L not reviewed Insufficiently evaluated not reviewed unknown Array rs62106922 485 10738 0.0451667 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - FCGBP Val4601Leu V4601L not reviewed Insufficiently evaluated not reviewed unknown Array 179 10750 0.0166512 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - 0 - 1 N - - FCGBP Thr4351Ile T4351I not reviewed Insufficiently evaluated not reviewed unknown Array 269 10334 0.0260306 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 3 - 1 N - - FCGBP Glu4340Lys E4340K not reviewed Insufficiently evaluated not reviewed unknown Array 947 10758 0.0880275 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - FCGBP Arg4318His R4318H not reviewed Insufficiently evaluated not reviewed unknown Array rs28472548 6446 10758 0.599182 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - FCGBP Ser4284Ala S4284A not reviewed Insufficiently evaluated not reviewed unknown Array rs12610683 14 14 1 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - FCGBP Val4015Ala V4015A not reviewed Insufficiently evaluated not reviewed unknown Array 6309 10210 0.617924 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FCGBP His3920Gln H3920Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2542318 23 10400 0.00221154 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGBP Ala3916Val A3916V not reviewed Insufficiently evaluated not reviewed unknown Array 2167 10462 0.207131 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FCGBP Lys3848Glu K3848E not reviewed Insufficiently evaluated not reviewed unknown Array rs2542319 3381 8808 0.383856 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCGBP Lys3848Gln K3848Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FCGBP His3668Arg H3668R not reviewed Insufficiently evaluated not reviewed unknown Array rs2542330 69 120 0.575 28 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FCGBP Thr3663Ile T3663I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGBP Thr3150Ile T3150I not reviewed Insufficiently evaluated not reviewed unknown Array 174 10716 0.0162374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGBP Asn2842Thr N2842T not reviewed Insufficiently evaluated not reviewed unknown Array rs3746010 118 9774 0.0120728 5 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGBP Ala2793Val A2793V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCGBP Glu2640Ala E2640A not reviewed Insufficiently evaluated not reviewed unknown Array rs2542321 3422 10744 0.318503 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FCGBP Ser2639Asn S2639N not reviewed Insufficiently evaluated not reviewed unknown Array rs62108885 1580 10744 0.147059 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCGBP Asn2089Asp N2089D not reviewed Insufficiently evaluated not reviewed unknown Array rs885723 596 5168 0.115325 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FCGBP Thr1949Ile T1949I not reviewed Insufficiently evaluated not reviewed unknown Array 67 4964 0.0134972 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGBP Arg1606Gln R1606Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735676 539 10742 0.0501769 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCGBP Pro1436Leu P1436L not reviewed Insufficiently evaluated not reviewed unknown Array rs36106401 1725 10758 0.160346 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.325 - - 7 Y 0 N - - FCGBP Val1340Leu V1340L not reviewed Insufficiently evaluated not reviewed unknown Array rs11083543 2944 10754 0.273759 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.484 - - 0 - 0 N - - FCGBP Gly1019Arg G1019R not reviewed Insufficiently evaluated not reviewed unknown Array rs34254649 751 10758 0.0698085 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.853 - - 6 Y 2 - 1 - - FCGBP Asn770Ser N770S not reviewed Insufficiently evaluated not reviewed unknown Array rs34939346 1180 9920 0.118952 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 0 N - - FCGBP Ala229Val A229V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - 2 - 0 N - - FCGBP Thr15Asn T15N not reviewed Insufficiently evaluated not reviewed unknown Array 51 10756 0.00474154 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - FCGR1A Gln246Stop Q246X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FCGR1B Arg175His R175H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - FCGR1B Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGR1B Met171Lys M171K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - FCGR1B Met79Lys M79K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR1B Met115Thr M115T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCGR1B Met23Thr M23T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCGR1B Leu105Pro L105P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - FCGR1B Leu13Pro L13P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR2A Pro47Thr P47T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR2A Pro48Thr P48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR2A Gln62Stop Q62X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - FCGR2A Gln63Stop Q63X not reviewed Insufficiently evaluated not reviewed unknown Array 1031 10758 0.0958357 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 4 - - FCGR2A Gln62Arg Q62R not reviewed Insufficiently evaluated not reviewed unknown Array rs9427398 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR2A Gln63Arg Q63R not reviewed Insufficiently evaluated not reviewed unknown Array 1164 10758 0.108199 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCGR2A His166Arg H166R not reviewed Insufficiently evaluated not reviewed unknown Array rs1801274 56 128 0.4375 36 0 48 0 0 - - - - - - - - - - - - - - Y - - - - 1 - 2 N - - FCGR2A His167Arg H167R not reviewed Insufficiently evaluated not reviewed unknown Array rs1801274 5682 10758 0.528165 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FCGR2A Leu273Pro L273P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR2A Leu274Pro L274P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR2C Pro83Gln P83Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR3A Phe175Val F175V not reviewed Insufficiently evaluated not reviewed unknown Array rs396991 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGR3A Phe176Val F176V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs396991 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - Better response with cetuximab and rituximab. FCGR3A Phe211Val F211V not reviewed Insufficiently evaluated not reviewed unknown Array rs396991 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGR3A Phe212Val F212V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs396991 3065 10758 0.284904 26 0 31 5 4 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - FCGR3A Tyr157His Y157H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - FCGR3A Tyr158His Y158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Tyr193His Y193H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Tyr194His Y194H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Gly146Asp G146D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - FCGR3A Gly147Asp G147D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR3A Gly182Asp G182D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR3A Gly183Asp G183D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR3A Asp117Asn D117N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Asp118Asn D118N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Asp81Asn D81N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Asp82Asn D82N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCGR3A Leu101His L101H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCGR3A Leu102His L102H not reviewed Insufficiently evaluated not reviewed unknown Array 580 10758 0.0539134 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FCGR3A Leu65His L65H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - FCGR3A Leu66His L66H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - FCGR3A Leu101Arg L101R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCGR3A Leu102Arg L102R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - FCGR3A Leu65Arg L65R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCGR3A Leu66Arg L66R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - FCGR3A Ser100Asn S100N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR3A Ser101Asn S101N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - FCGR3A Ser64Asn S64N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - FCGR3A Ser65Asn S65N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR3A Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array rs58856594 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGR3A Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - FCGR3B Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array 2506 10574 0.236996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FCGR3B Asn65Ser N65S not reviewed Insufficiently evaluated not reviewed unknown Array rs448740 6068 10668 0.568804 30 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCGR3B Gly49Arg G49R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FCHO1 Ser479Trp S479W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FCHO1 Ser529Trp S529W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - FCHO2 Met338Val M338V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCHO2 Met371Val M371V not reviewed Insufficiently evaluated not reviewed unknown Array rs185435 2157 9592 0.224875 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCHO2 Pro466Ser P466S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCHO2 Pro499Ser P499S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCHSD1 Asp682Ala D682A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCHSD1 Pro681Leu P681L not reviewed Insufficiently evaluated not reviewed unknown Array rs32957 438 9908 0.0442067 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCN1 Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56345770 341 10758 0.0316973 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - FCN2 Thr198Met T198M not reviewed Insufficiently evaluated not reviewed unknown Array rs17549193 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCN2 Thr236Met T236M not reviewed Insufficiently evaluated not reviewed unknown Array rs17549193 3315 10758 0.308143 34 0 38 0 0 - - - - - - - - - - - - - - - - 0.032 - - 2 - 0 N - - FCN2 Ala220Ser A220S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCN2 Ala258Ser A258S not reviewed Insufficiently evaluated not reviewed unknown Array rs7851696 1461 10758 0.135806 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.826 - - -1 - 0 N - - FCRL1 Pro312Thr P312T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCRL1 Pro351Thr P351T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.124 - - 4 Y 0 N - - FCRL1 Ile310Met I310M not reviewed Insufficiently evaluated not reviewed unknown Array rs59455899 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - FCRL1 Val124Met V124M not reviewed Insufficiently evaluated not reviewed unknown Array rs12078586 536 10758 0.0498234 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - FCRL2 Ser238Cys S238C not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.182 - - 3 - 0 N - - FCRL3 His595Pro H595P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - FCRL3 Ser566Tyr S566Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74120720 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.441 - - 5 Y 1 N - - FCRL3 Val489Met V489M not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 2 - 1 - - FCRL3 Arg293Gln R293Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRL3 Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array 244 10758 0.0226808 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - FCRL3 Arg195Thr R195T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FCRL3 Gln121Stop Q121X not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FCRL3 Val93Gly V93G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.973 - - 8 Y 2 N - - FCRL3 Asn28Asp N28D not reviewed Insufficiently evaluated not reviewed unknown Array rs7522061 5539 10758 0.514873 43 0 57 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FCRL4 Arg78Gln R78Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 0 - 0 N - - FCRL4 Arg60Gln R60Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11582663 1201 10758 0.111638 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.473 - - 0 - 0 N - - FCRL4 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array rs62640948 288 10758 0.0267708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - FCRL5 Val555Met V555M not reviewed Insufficiently evaluated not reviewed unknown Array rs73011567 1028 10758 0.0955568 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCRL5 Arg551Pro R551P not reviewed Insufficiently evaluated not reviewed unknown Array rs73011568 1027 10758 0.0954638 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FCRL5 Val466Ile V466I not reviewed Insufficiently evaluated not reviewed unknown Array rs6427384 7535 10758 0.700409 44 0 70 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FCRL5 Gln457Arg Q457R not reviewed Insufficiently evaluated not reviewed unknown Array rs34868810 349 10758 0.032441 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - FCRL5 Gly418Asp G418D not reviewed Insufficiently evaluated not reviewed unknown Array rs2012199 8890 10758 0.826362 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FCRL5 Val269Ile V269I not reviewed Insufficiently evaluated not reviewed unknown Array rs12036228 2610 10758 0.24261 28 0 29 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FCRL5 Tyr267His Y267H not reviewed Insufficiently evaluated not reviewed unknown Array rs6679793 7506 10758 0.697713 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FCRL6 Gly160Asp G160D not reviewed Insufficiently evaluated not reviewed unknown Array rs72700615 1117 10758 0.10383 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.042 - - 4 Y 0 N - - FCRL6 Val330Leu V330L not reviewed Insufficiently evaluated not reviewed unknown Array rs73030822 544 10758 0.050567 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCRL6 Gln423Stop Q423X not reviewed Insufficiently evaluated not reviewed unknown Array rs61823162 1067 10758 0.099182 9 0 9 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - FCRL6 Ser427Gly S427G not reviewed Insufficiently evaluated not reviewed unknown Array rs4443889 3020 10758 0.280721 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FCRLA Thr125Ala T125A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741806 229 10758 0.0212865 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCRLA Gly137Ala G137A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCRLA Val194Leu V194L not reviewed Insufficiently evaluated not reviewed unknown Array rs34733000 275 10758 0.0255624 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLA Ser203Gly S203G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275603 4034 10758 0.374977 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FCRLA Ile232Met I232M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCRLA Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 3835 10758 0.356479 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FCRLB Ala301Pro A301P not reviewed Insufficiently evaluated not reviewed unknown Array rs72704099 2594 10752 0.241257 20 0 29 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - FCRLB Gly383Asp G383D not reviewed Insufficiently evaluated not reviewed unknown Array rs34868416 670 10758 0.0622792 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.565 - - 4 Y 0 N - - FDFT1 Lys45Arg K45R not reviewed Insufficiently evaluated not reviewed unknown Array rs11549147 699 10758 0.0649749 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - FDX1L Arg26Gly R26G not reviewed Insufficiently evaluated not reviewed unknown Array rs62640397 242 10750 0.0225116 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 1 - 1 - - FDXACB1 Ile87Asn I87N not reviewed Insufficiently evaluated not reviewed unknown Array rs611010 8353 9680 0.862913 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FDXACB1 Thr28Ala T28A not reviewed Insufficiently evaluated not reviewed unknown Array rs59164893 106 10080 0.0105159 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - FDXR Arg123Gln R123Q not reviewed Insufficiently evaluated not reviewed unknown Array rs690514 1790 10752 0.166481 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - FECH Arg102Gln R102Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1041951 1299 10758 0.120747 7 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - FECH Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 3 - - FECH Gly55Ser G55S not reviewed Insufficiently evaluated not reviewed unknown Array rs3848519 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FEM1A Gly246Glu G246E not reviewed Insufficiently evaluated not reviewed unknown Array rs73919320 86 10732 0.00801342 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - FER Met412Val M412V not reviewed Insufficiently evaluated not reviewed unknown Array rs33940843 267 10756 0.0248234 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FER1L5 Arg33Lys R33K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - -3 - 2 N - - FER1L5 Leu364Val L364V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.466 - - 0 - 1 N - - FER1L5 Thr682Ala T682A not reviewed Insufficiently evaluated not reviewed unknown Array rs7599598 1584 3234 0.489796 42 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FER1L5 Met808Thr M808T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732269 43 3234 0.0132962 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 2 - 0 N - - FER1L5 Glu881Lys E881K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - FER1L5 His982Gln H982Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - FER1L5 Glu1021Lys E1021K not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FER1L5 Trp1185Gly W1185G not reviewed Insufficiently evaluated not reviewed unknown Array rs61745438 51 3234 0.0157699 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 2 N - - FER1L6 Leu238Pro L238P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FER1L6 Asp1110Glu D1110E not reviewed Insufficiently evaluated not reviewed unknown Array rs7012186 8532 10086 0.845925 55 0 90 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FER1L6 Arg1720Gln R1720Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56132579 579 9776 0.0592267 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - FER1L6 Cys1728Tyr C1728Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FERD3L Gly85Val G85V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - FERMT1 Arg526Lys R526K not reviewed Insufficiently evaluated not reviewed unknown Array rs2232074 789 10758 0.0733408 39 0 41 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 2 - - FERMT1 Arg255Cys R255C not reviewed Insufficiently evaluated not reviewed unknown Array rs62200482 692 10758 0.0643242 4 0 4 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 2 N - - FERMT1 Val241Ala V241A not reviewed Insufficiently evaluated not reviewed unknown Array rs55666319 407 10758 0.0378323 3 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FERMT1 Ile160Thr I160T not reviewed Insufficiently evaluated not reviewed unknown Array rs16991866 1136 10758 0.105596 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 3 - 1 N - - FERMT3 Gly658Arg G658R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FERMT3 Gly662Arg G662R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - FES Trp598Stop W598X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FES Trp656Stop W656X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FES Trp668Stop W668X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FES Trp726Stop W726X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FETUB Arg128Gly R128G not reviewed Insufficiently evaluated not reviewed unknown Array 233 10754 0.0216664 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - FETUB Gly202Ser G202S not reviewed Insufficiently evaluated not reviewed unknown Array rs6785067 567 10758 0.052705 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.093 - - 2 - 0 N - - FETUB Lys360Arg K360R not reviewed Insufficiently evaluated not reviewed unknown Array rs7999 660 10758 0.0613497 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 - 3 - - FEZ1 Asp123Glu D123E not reviewed Insufficiently evaluated not reviewed unknown Array rs597570 2121 10758 0.197156 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.548 - - -2 - 0 N - - FEZ2 Arg329Cys R329C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FEZ2 Arg356Cys R356C not reviewed Insufficiently evaluated not reviewed unknown Array rs848642 3689 9450 0.39037 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FEZ2 Pro50Leu P50L not reviewed Insufficiently evaluated not reviewed unknown Array rs1544655 5505 6584 0.836118 32 0 57 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FEZ2 Glu39Gly E39G not reviewed Insufficiently evaluated not reviewed unknown Array 2196 2968 0.739892 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 1 - - FFAR1 Arg211His R211H not reviewed Insufficiently evaluated not reviewed unknown Array rs2301151 8998 10712 0.839993 44 0 78 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - FFAR1 Ser298Tyr S298Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74530614 2 10116 0.000197706 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 5 Y 0 N - - FFAR2 Ile46Val I46V not reviewed Insufficiently evaluated not reviewed unknown Array rs73931123 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - FFAR2 Leu211His L211H not reviewed Insufficiently evaluated not reviewed unknown Array rs409093 622 10758 0.0578174 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FFAR3 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array rs62109581 2163 10746 0.201284 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - FFAR3 Asp158Asn D158N not reviewed Insufficiently evaluated not reviewed unknown Array 141 10742 0.013126 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FGA Thr331Ala T331A not reviewed Insufficiently evaluated not reviewed unknown Array rs6050 3111 10758 0.28918 29 0 32 0 0 - - - - - - - - - - - - Y - - - 0.306 Y - 1 - 2 - 2 - - FGA Ile6Val I6V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.055 Y - -4 - 2 - 7 - - FGB Pro100Ser P100S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - 3 - 2 - 3 - - FGB Asp463Gly D463G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 4 Y 3 N - - FGB Arg478Lys R478K not reviewed Insufficiently evaluated not reviewed unknown Array rs4220 1670 10758 0.155233 14 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 4 - - FGD1 Ala37Val A37V not reviewed Insufficiently evaluated not reviewed unknown Array 9 8031 0.00112066 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FGD2 Gln32His Q32H not reviewed Insufficiently evaluated not reviewed unknown Array rs831510 2806 10758 0.260829 33 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FGD2 His38Arg H38R not reviewed Insufficiently evaluated not reviewed unknown Array rs73730511 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - FGD2 Glu302Gly E302G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - FGD2 Gln305Leu Q305L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - FGD2 Val370Gly V370G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - FGD2 Glu447Asp E447D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - -2 - 0 N - - FGD3 Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array rs71496423 32 10192 0.00313972 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - FGD3 Val275Ile V275I not reviewed Insufficiently evaluated not reviewed unknown Array rs3802384 300 10456 0.0286917 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - FGD5 Val42Ile V42I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FGD5 Gln204His Q204H not reviewed Insufficiently evaluated not reviewed unknown Array 108 3232 0.0334158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FGD5 Val979Ile V979I not reviewed Insufficiently evaluated not reviewed unknown Array 245 10396 0.0235668 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FGD6 Glu1393Lys E1393K not reviewed Insufficiently evaluated not reviewed unknown Array rs3794255 8 10756 0.00074377 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.143 - - 0 - 0 N - - FGD6 Phe1277Ser F1277S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - FGD6 Ala403Val A403V not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGD6 Lys329Arg K329R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FGD6 Gln257Arg Q257R not reviewed Insufficiently evaluated not reviewed unknown Array rs10507047 1054 10758 0.0979736 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 1 N - - FGD6 Pro206Ser P206S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 2 - 1 - - FGF2 Gly5Arg G5R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9370 0.00032017 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - FGF20 Asp206Asn D206N not reviewed Insufficiently evaluated not reviewed unknown Array rs17550360 257 10758 0.0238892 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.231 - - -1 - 1 N - - FGF20 Pro175Ala P175A not reviewed Insufficiently evaluated not reviewed unknown Array rs10089600 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.704 - - 2 - 2 - 6 - - FGF21 Gly141Ser G141S not reviewed Insufficiently evaluated not reviewed unknown Array rs41308776 11 10754 0.00102287 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.484 - - 2 - 2 - 3 - - FGF21 Leu174Pro L174P not reviewed Insufficiently evaluated not reviewed unknown Array rs739320 7500 10696 0.701197 44 0 76 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FGF23 Thr239Met T239M not reviewed Insufficiently evaluated not reviewed unknown Array rs7955866 1128 10758 0.104852 18 0 19 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 5 - - FGF23 His168Pro H168P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 5 Y 3 N - - FGF23 Val136Leu V136L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.768 Y - 0 - 2 N - - FGF3 Lys101Asn K101N not reviewed Insufficiently evaluated not reviewed unknown Array rs61623544 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.725 - - 1 - 1 N - - FGF5 Met54Val M54V not reviewed Insufficiently evaluated not reviewed unknown Array rs33950145 521 10758 0.0484291 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - FGF5 Trp81Cys W81C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FGF6 Val36Ala V36A not reviewed Insufficiently evaluated not reviewed unknown Array rs11613495 1526 10758 0.141848 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FGFBP1 Thr232Ser T232S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729364 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FGFBP1 Phe156Ser F156S not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - FGFBP2 Gly135Val G135V not reviewed Insufficiently evaluated not reviewed unknown Array rs59591720 517 10758 0.0480573 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.527 - - 8 Y 1 N - - FGFBP2 Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array rs758329 4187 10758 0.389199 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.526 - - 3 - 0 N - - FGFBP2 Ser28Asn S28N not reviewed Insufficiently evaluated not reviewed unknown Array rs35496730 1423 10758 0.132274 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.793 - - 0 - 0 N - - FGFBP3 Asp226His D226H not reviewed Insufficiently evaluated not reviewed unknown Array 302 10758 0.0280721 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - FGFBP3 Glu206Val E206V not reviewed Insufficiently evaluated not reviewed unknown Array rs1107947 2331 10758 0.216676 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - FGFBP3 Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array 306 7162 0.0427255 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - 1 - 0 N - - FGFR1OP Ala190Gly A190G not reviewed Insufficiently evaluated not reviewed unknown Array rs34617108 93 10758 0.00864473 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 1 - - FGFR1OP Ala257Pro A257P not reviewed Insufficiently evaluated not reviewed unknown Array rs34544438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGFR1OP Ala277Pro A277P not reviewed Insufficiently evaluated not reviewed unknown Array rs34544438 234 10758 0.0217513 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - FGFR1OP2 Met67Thr M67T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 2 - 2 N - - FGFR2 Arg642Gln R642Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Arg643Gln R643Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Arg644Gln R644Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Arg647Gln R647Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Arg670Gln R670Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Arg671Gln R671Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Arg759Gln R759Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.609 Y Y 0 - 3 N - - FGFR2 Arg760Gln R760Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - FGFR2 Met186Thr M186T not reviewed Insufficiently evaluated not reviewed unknown Array rs755793 1118 10758 0.103923 12 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 3 - - FGFR2 Met71Thr M71T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - FGFR2 Met97Thr M97T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FGFR4 Val10Ile V10I not reviewed Insufficiently evaluated not reviewed unknown Array rs1966265 1837 10758 0.170757 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FGFR4 Pro136Leu P136L not reviewed Insufficiently evaluated not reviewed unknown Array rs376618 7767 10758 0.721974 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FGFR4 Gly388Arg G388R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs351855 2590 10750 0.24093 24 0 27 0 0 5 Y - - - - - - - - - - - Y - Y 0.481 - - 6 Y 2 N - - Possible association with sensitivity to cisplatin; poor outcome with cyclophosphamide, fluoruracil, methotextrate and tamoxifen. FGFRL1 Ala32Val A32V not reviewed Insufficiently evaluated not reviewed unknown Array 40 9846 0.00406256 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.791 - - 2 - 1 N - - FGFRL1 Asp93Asn D93N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - FGFRL1 Pro362Gln P362Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4647930 2187 10728 0.203859 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.11 - - 4 Y 0 N - - FGFRL1 Pro464Ala P464A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - FGG Tyr140His Y140H not reviewed Insufficiently evaluated not reviewed unknown Array rs2066870 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 2 - 1 - - FGGY Asn43Lys N43K not reviewed Insufficiently evaluated not reviewed unknown Array rs835409 3113 7818 0.398184 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FGGY Val191Met V191M not reviewed Insufficiently evaluated not reviewed unknown Array rs72913795 333 10758 0.0309537 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - FGGY Leu246Val L246V not reviewed Insufficiently evaluated not reviewed unknown Array rs11207463 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 1 N - - FGL1 Tyr140Phe Y140F not reviewed Insufficiently evaluated not reviewed unknown Array rs35431851 201 10756 0.0186872 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 2 N - - FGL1 Pro105Leu P105L not reviewed Insufficiently evaluated not reviewed unknown Array rs2653406 1474 10758 0.137014 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - FGL1 Ile72Val I72V not reviewed Insufficiently evaluated not reviewed unknown Array rs3739406 5964 10758 0.554378 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - FGL1 Thr15Ile T15I not reviewed Insufficiently evaluated not reviewed unknown Array rs484373 8697 10758 0.808422 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FGL2 Gly53Glu G53E not reviewed Insufficiently evaluated not reviewed unknown Array rs2075761 867 10758 0.0805912 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FHAD1 Arg182His R182H not reviewed Insufficiently evaluated not reviewed unknown Array rs486557 999 3234 0.308905 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FHAD1 Ile356Met I356M not reviewed Insufficiently evaluated not reviewed unknown Array rs10489962 194 3234 0.0599876 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FHAD1 Gly651Arg G651R not reviewed Insufficiently evaluated not reviewed unknown Array rs763821 1340 3234 0.414348 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FHAD1 Glu919Gly E919G not reviewed Insufficiently evaluated not reviewed unknown Array rs4661330 924 3234 0.285714 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - FHAD1 Asp964Gly D964G not reviewed Insufficiently evaluated not reviewed unknown Array rs74057316 11 3234 0.00340136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - FHAD1 Met1262Val M1262V not reviewed Insufficiently evaluated not reviewed unknown Array 56 3234 0.017316 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - FHAD1 Ile1325Val I1325V not reviewed Insufficiently evaluated not reviewed unknown Array rs1010294 1148 3234 0.354978 33 0 49 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FHDC1 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753649 399 10756 0.0370956 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.635 - - 1 - 1 N - - FHDC1 Ala619Glu A619E not reviewed Insufficiently evaluated not reviewed unknown Array 132 10748 0.0122814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - FHDC1 Arg639Cys R639C not reviewed Insufficiently evaluated not reviewed unknown Array rs3811833 6203 10756 0.576701 38 0 49 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 1 N - - FHDC1 Ser734Cys S734C not reviewed Insufficiently evaluated not reviewed unknown Array 143 10756 0.0132949 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FHL3 Val151Met V151M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FHL3 Ala103Thr A103T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732084 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FHL5 Arg35His R35H not reviewed Insufficiently evaluated not reviewed unknown Array rs35157931 295 10758 0.0274215 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.489 - - 1 - 1 N - - FHL5 Arg204Gly R204G not reviewed Insufficiently evaluated not reviewed unknown Array rs2273621 4199 10758 0.390314 37 0 50 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 1 N - - FHL5 Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array rs2252816 3067 10758 0.28509 31 0 40 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FHL5 Ser243Arg S243R not reviewed Insufficiently evaluated not reviewed unknown Array rs9373985 4127 10758 0.383621 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FHOD1 Pro533Leu P533L not reviewed Insufficiently evaluated not reviewed unknown Array rs77958237 464 10758 0.0431307 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - FHOD1 Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.155 - - 0 - 0 N - - FHOD3 Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735987 118 10758 0.0109686 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FHOD3 Ala535Gly A535G not reviewed Insufficiently evaluated not reviewed unknown Array rs61735993 1535 10758 0.142685 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FHOD3 Pro547Ser P547S not reviewed Insufficiently evaluated not reviewed unknown Array rs7238035 141 10758 0.0131065 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - FHOD3 Val1151Ile V1151I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303510 3792 10758 0.352482 32 0 38 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FIBCD1 Trp440Cys W440C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FIBCD1 Ser439Phe S439F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FIBIN Arg96His R96H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - FIBP Met344Val M344V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - FIBP Met351Val M351V not reviewed Insufficiently evaluated not reviewed unknown Array rs2231893 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 2 - - FICD Leu3Phe L3F not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - FIG4 Met364Leu M364L not reviewed Insufficiently evaluated not reviewed unknown Array rs2295837 346 10758 0.0321621 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.011 - Y -3 - 2 - 2 - - FIG4 Val654Ala V654A not reviewed Insufficiently evaluated not reviewed unknown Array rs9885672 3560 10756 0.330978 38 0 50 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 - 2 - - FIGF Arg108Lys R108K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -3 - 0 N - - FIGLA Ser141Thr S141T not reviewed Insufficiently evaluated not reviewed unknown Array rs7566476 6308 10036 0.628537 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FIGNL1 Val137Met V137M not reviewed Insufficiently evaluated not reviewed unknown Array rs10235371 894 10758 0.0831009 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - FIGNL1 Gly28Arg G28R not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - FIGNL2 Thr366Pro T366P not reviewed Insufficiently evaluated not reviewed unknown Array rs303819 6285 7082 0.887461 7 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FILIP1 Pro1003Ser P1003S not reviewed Insufficiently evaluated not reviewed unknown Array rs34807169 308 10758 0.0286299 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - FILIP1 Thr801Met T801M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 2 - 2 N - - FILIP1 Met377Val M377V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736188 64 10758 0.00594906 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - FILIP1 Lys213Thr K213T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 3 - 0 N - - FILIP1L Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array rs793440 2802 9554 0.29328 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FITM1 Gly159Ser G159S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 2 - 1 N - - FIZ1 Thr391Ala T391A not reviewed Insufficiently evaluated not reviewed unknown Array rs7247236 8017 9392 0.853599 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FJX1 Gln131Arg Q131R not reviewed Insufficiently evaluated not reviewed unknown Array 6 4524 0.00132626 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - FJX1 Phe295Tyr F295Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 2 N - - FJX1 Phe295Leu F295L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FJX1 Arg415His R415H not reviewed Insufficiently evaluated not reviewed unknown Array rs12286850 570 9682 0.0588721 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.945 - - 1 - 1 N - - FKBP10 Lys197Arg K197R not reviewed Insufficiently evaluated not reviewed unknown Array rs34764749 690 10758 0.0641383 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - FKBP10 Glu516Lys E516K not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FKBP15 Pro993Thr P993T not reviewed Insufficiently evaluated not reviewed unknown Array rs57348436 593 10308 0.0575281 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.976 - - 4 Y 1 N - - FKBP15 Ala439Thr A439T not reviewed Insufficiently evaluated not reviewed unknown Array rs73655816 171 10082 0.0169609 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FKBP15 Leu434Phe L434F not reviewed Insufficiently evaluated not reviewed unknown Array rs10465129 507 10128 0.0500592 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.669 - - 0 - 1 - 3 - - FKBP15 His413Gln H413Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10435864 5673 10296 0.550991 46 0 57 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FKBP15 Ala106Thr A106T not reviewed Insufficiently evaluated not reviewed unknown Array rs1133618 2109 9744 0.216441 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FKBP15 Thr53Met T53M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 2 - 0 N - - FKBP2 Arg7Gln R7Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4672 619 10756 0.0575493 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FKBP3 Gly142Glu G142E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FKBP3 Ser79Ile S79I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FKBP4 Lys256Gln K256Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - -2 - 3 - 1 - - FKBP4 Glu260Gly E260G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FKBP8 Ala87Val A87V not reviewed Insufficiently evaluated not reviewed unknown Array rs11574806 1107 10736 0.103111 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FKBP9 Glu320Lys E320K not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.716 - - 0 - 1 N - - FKBPL Ala288Asp A288D not reviewed Insufficiently evaluated not reviewed unknown Array rs73406049 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - FKBPL Ser191Phe S191F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 5 Y 2 N - - FKBPL Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array rs28732176 1300 10758 0.12084 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FKRP Ile274Met I274M not reviewed Insufficiently evaluated not reviewed unknown Array 4 7206 0.000555092 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -1 - 1 N - - FKTN Gly125Ser G125S pathogenic Insufficiently evaluated pathogenic recessive Array rs34006675 393 10758 0.036531 3 0 3 1 1 1 Y - - 0 Y 0 - 5 Y 1 - Y Y - - 0.001 Y Y 2 - 4 N 1 - - This variant was found as a compound heterozygote with a 473-bp deletion in a Spanish individual with Walker-Warburg syndrome FKTN Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34787999 2827 10758 0.262781 17 0 18 0 0 - - - - - - - - - - - - Y - - - 0.166 Y Y 0 - 2 N - - FLG Thr4030Lys T4030K not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 3 - 4 N - - FLG Ser3970Leu S3970L not reviewed Insufficiently evaluated not reviewed unknown Array rs3814299 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.774 Y Y 6 Y 3 N - - FLG Ser3935Pro S3935P not reviewed Insufficiently evaluated not reviewed unknown Array rs3126065 1216 10758 0.113032 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - FLG Arg3858His R3858H not reviewed Insufficiently evaluated not reviewed unknown Array rs74129447 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG Arg3738His R3738H not reviewed Insufficiently evaluated not reviewed unknown Array rs77422831 1154 10758 0.107269 14 0 14 0 0 3 Y - - - - - - - - - - Y - - - 0.278 Y Y 1 - 2 N - - FLG Glu3694Gln E3694Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55707024 150 10706 0.0140108 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.92 Y Y -2 - 4 N - - FLG Ile3642Thr I3642T not reviewed Insufficiently evaluated not reviewed unknown Array 91 10460 0.00869981 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 3 - 4 N - - FLG Asp3635Asn D3635N not reviewed Insufficiently evaluated not reviewed unknown Array 925 10706 0.0864002 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.958 Y Y -1 - 3 N - - FLG His3630Tyr H3630Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9436065 1017 10744 0.0946575 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -1 - 3 N - - FLG Glu3593Asp E3593D not reviewed Insufficiently evaluated not reviewed unknown Array rs12083389 1592 10754 0.148038 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y -2 - 2 N - - FLG Thr3579Arg T3579R not reviewed Insufficiently evaluated not reviewed unknown Array rs3126075 1047 10724 0.0976315 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 3 - 2 N - - FLG Trp3555Arg W3555R not reviewed Insufficiently evaluated not reviewed unknown Array 702 10752 0.0652902 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.882 Y Y 7 Y 3 N - - FLG Arg3530Ser R3530S benign Low clinical importance, Uncertain benign unknown Array rs72697000 1171 10758 0.108849 2 0 2 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.999 Y Y 3 - 3 N 0 0 Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause ichthyosis vulgaris in a recessive manner. FLG Pro3529Ser P3529S not reviewed Insufficiently evaluated not reviewed unknown Array rs12746216 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.074 Y Y 3 - 2 N - - FLG Ala3527Glu A3527E not reviewed Insufficiently evaluated not reviewed unknown Array rs12746218 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.907 Y Y 3 - 4 N - - FLG Gln3520Pro Q3520P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 4 Y 4 N - - FLG His3505Arg H3505R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10752 0.000930059 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y 1 - 4 N - - FLG Trp3503Gly W3503G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.933 Y Y 7 Y 4 N - - FLG Tyr3450His Y3450H not reviewed Insufficiently evaluated not reviewed unknown Array rs71625188 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y -1 - 2 N - - FLG Arg3443Gly R3443G not reviewed Insufficiently evaluated not reviewed unknown Array rs71625191 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.113 Y Y 6 Y 2 N - - FLG Ser3440Pro S3440P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.96 Y Y 3 - 4 N - - FLG Gly3436Ala G3436A not reviewed Insufficiently evaluated not reviewed unknown Array rs2065955 3583 10758 0.333054 9 0 11 0 0 1 Y - - - - - - - - - - Y - - - 0.98 Y Y 1 - 3 N - - FLG Ala3426Val A3426V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 2 - 2 N - - FLG Gln3369Lys Q3369K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.535 Y Y -2 - 3 N - - FLG Arg3270Cys R3270C not reviewed Insufficiently evaluated not reviewed unknown Array rs35621145 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.115 Y Y 8 Y 2 N - - FLG Gly3263Ser G3263S not reviewed Insufficiently evaluated not reviewed unknown Array 395 10758 0.0367169 4 0 3 0 0 - - - - - - - - - - - - Y - - - 0.929 Y Y 2 - 4 N - - FLG Gly3204Arg G3204R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y 6 Y 4 N - - FLG Val3179Gly V3179G not reviewed Insufficiently evaluated not reviewed unknown Array rs2065957 1574 10736 0.14661 32 0 37 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 8 Y 2 N - - FLG Ser3174Gly S3174G not reviewed Insufficiently evaluated not reviewed unknown Array 353 10754 0.032825 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - FLG Thr3164Pro T3164P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 4 Y 2 N - - FLG Tyr3105Asp Y3105D not reviewed Insufficiently evaluated not reviewed unknown Array rs2065958 239 10186 0.0234636 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 7 Y 2 N - - FLG Gly3088Arg G3088R not reviewed Insufficiently evaluated not reviewed unknown Array 173 10130 0.017078 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.966 Y Y 6 Y 4 N - - FLG Asp2936Gly D2936G not reviewed Insufficiently evaluated not reviewed unknown Array 914 9930 0.0920443 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - FLG Arg2883Thr R2883T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10494 0.00200114 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Asp2866Val D2866V not reviewed Insufficiently evaluated not reviewed unknown Array 122 10648 0.0114576 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG Gly2850Ser G2850S not reviewed Insufficiently evaluated not reviewed unknown Array 635 10680 0.0594569 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - FLG Ser2836Arg S2836R not reviewed Insufficiently evaluated not reviewed unknown Array rs11582087 894 10702 0.0835358 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - FLG Thr2559Lys T2559K not reviewed Insufficiently evaluated not reviewed unknown Array 129 10752 0.0119978 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.804 Y Y 3 - 3 N - - FLG Gly2545Arg G2545R not reviewed Insufficiently evaluated not reviewed unknown Array rs3126072 3033 10752 0.282087 25 0 27 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 6 Y 2 N - - FLG His2507Gln H2507Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3126074 2913 10758 0.270775 28 0 32 0 0 2 Y - - - - - - - - - - Y - - - 0.002 Y Y -1 - 2 N - - FLG Leu2481Ser L2481S not reviewed Insufficiently evaluated not reviewed unknown Array rs55650366 1696 10758 0.15765 24 0 26 0 0 2 Y - - - - - - - - - - Y - - - 0.003 Y Y 6 Y 2 N - - FLG His2477Tyr H2477Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.882 Y Y -1 - 4 N - - FLG Lys2444Glu K2444E not reviewed Insufficiently evaluated not reviewed unknown Array rs71625200 1677 10756 0.155913 16 0 18 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - FLG Glu2398Gln E2398Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71625201 1648 10708 0.153904 12 0 12 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y -2 - 3 N - - FLG Ser2366Thr S2366T not reviewed Insufficiently evaluated not reviewed unknown Array rs71625202 1004 10650 0.0942723 12 0 12 0 0 - - - - - - - - - - - - Y - - - 0.967 Y Y -2 - 3 N - - FLG Ile2346Thr I2346T not reviewed Insufficiently evaluated not reviewed unknown Array 76 10690 0.00710945 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.157 Y Y 3 - 2 N - - FLG Asp2339Asn D2339N not reviewed Insufficiently evaluated not reviewed unknown Array rs77166567 288 10738 0.0268206 15 0 16 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y -1 - 4 N - - FLG Glu2297Asp E2297D not reviewed Insufficiently evaluated not reviewed unknown Array 1147 10758 0.106618 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - FLG Glu2250Gln E2250Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3120645 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG His2209Arg H2209R not reviewed Insufficiently evaluated not reviewed unknown Array rs66977240 1597 10758 0.148448 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG Ser2208Leu S2208L not reviewed Insufficiently evaluated not reviewed unknown Array rs71816302 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Tyr2194His Y2194H not reviewed Insufficiently evaluated not reviewed unknown Array rs2184953 3744 10758 0.34802 38 0 55 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - FLG Lys2192Gln K2192Q not reviewed Insufficiently evaluated not reviewed unknown Array rs66954353 1613 10758 0.149935 22 0 22 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - FLG Gln2154His Q2154H not reviewed Insufficiently evaluated not reviewed unknown Array rs74129452 2356 10758 0.219 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - FLG Ser2152Tyr S2152Y not reviewed Insufficiently evaluated not reviewed unknown Array 1009 10758 0.0937907 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - FLG Pro2144Thr P2144T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - FLG Tyr2119His Y2119H not reviewed Insufficiently evaluated not reviewed unknown Array rs7512553 2169 10758 0.201617 7 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - FLG Ala2108Val A2108V not reviewed Insufficiently evaluated not reviewed unknown Array rs7522925 2289 10758 0.212772 9 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - FLG Lys2064Gln K2064Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74129455 1166 10758 0.108384 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - FLG Ser2020Ala S2020A not reviewed Insufficiently evaluated not reviewed unknown Array rs7512857 2169 10758 0.201617 3 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - FLG Asp2015Glu D2015E not reviewed Insufficiently evaluated not reviewed unknown Array rs71626704 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG His1961Gln H1961Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3126079 3745 10758 0.348113 32 0 44 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - FLG Trp1947Gly W1947G not reviewed Insufficiently evaluated not reviewed unknown Array 322 10758 0.0299312 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FLG Gln1914Arg Q1914R not reviewed Insufficiently evaluated not reviewed unknown Array rs34806697 732 10758 0.0680424 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - FLG Arg1909Ser R1909S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Arg1891Gln R1891Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12407748 1154 10758 0.107269 14 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - FLG Arg1891Trp R1891W not reviewed Insufficiently evaluated not reviewed unknown Array rs36006086 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FLG Gln1873Lys Q1873K not reviewed Insufficiently evaluated not reviewed unknown Array rs62623409 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Tyr1829Cys Y1829C not reviewed Insufficiently evaluated not reviewed unknown Array rs74129458 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Ala1805Val A1805V not reviewed Insufficiently evaluated not reviewed unknown Array rs12405241 1151 10754 0.10703 4 0 4 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - FLG Ser1785Arg S1785R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Ser1750Phe S1750F not reviewed Insufficiently evaluated not reviewed unknown Array rs3120647 1215 10758 0.112939 13 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - FLG Arg1699Cys R1699C not reviewed Insufficiently evaluated not reviewed unknown Array rs12405278 1152 10758 0.107083 19 0 20 0 0 - Y - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - FLG Arg1684His R1684H not reviewed Insufficiently evaluated not reviewed unknown Array rs12407807 1274 10758 0.118423 21 0 22 0 0 - Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG His1556Pro H1556P not reviewed Insufficiently evaluated not reviewed unknown Array rs61217139 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Thr1523Ile T1523I not reviewed Insufficiently evaluated not reviewed unknown Array rs12750081 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Thr1488Asn T1488N not reviewed Insufficiently evaluated not reviewed unknown Array rs3120648 880 10758 0.0817996 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG Asp1484Glu D1484E not reviewed Insufficiently evaluated not reviewed unknown Array rs71626706 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Ser1482Tyr S1482Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11204978 1152 10758 0.107083 18 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - FLG Arg1437Cys R1437C not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG His1387Tyr H1387Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73005479 119 10758 0.0110615 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FLG Arg1376Gly R1376G not reviewed Insufficiently evaluated not reviewed unknown Array rs11581433 1689 10754 0.157058 13 0 15 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - FLG Arg1360His R1360H not reviewed Insufficiently evaluated not reviewed unknown Array rs11586631 1151 10754 0.10703 16 0 17 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG Ser1352Arg S1352R not reviewed Insufficiently evaluated not reviewed unknown Array rs34597212 10 10758 0.00092954 2 0 2 0 0 - Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Phe1311Ser F1311S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Ser1196Asn S1196N not reviewed Insufficiently evaluated not reviewed unknown Array 123 10754 0.0114376 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FLG Ser1184Leu S1184L not reviewed Insufficiently evaluated not reviewed unknown Array rs3120649 1221 10758 0.113497 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - FLG Ala1167Gly A1167G not reviewed Insufficiently evaluated not reviewed unknown Array rs58001094 3446 10758 0.32032 35 0 46 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG Gln1162Lys Q1162K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Trp1106Arg W1106R not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FLG His980Asp H980D not reviewed Insufficiently evaluated not reviewed unknown Array rs12756586 226 10758 0.0210076 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Asn969Thr N969T not reviewed Insufficiently evaluated not reviewed unknown Array 619 10758 0.0575386 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG Asn969Tyr N969Y not reviewed Insufficiently evaluated not reviewed unknown Array 623 10758 0.0579104 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - FLG Arg897Cys R897C not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG Ser847Thr S847T not reviewed Insufficiently evaluated not reviewed unknown Array rs74129459 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Gly837Ser G837S not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Ser787Phe S787F not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Glu755Lys E755K not reviewed Insufficiently evaluated not reviewed unknown Array rs74129461 1490 10758 0.138502 16 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - FLG Ser742Tyr S742Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3120654 1248 10758 0.116007 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - FLG His727Gln H727Q not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FLG Thr725Ile T725I not reviewed Insufficiently evaluated not reviewed unknown Array rs3120655 1253 10758 0.116471 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - FLG Gly610Arg G610R not reviewed Insufficiently evaluated not reviewed unknown Array rs74129463 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.907 Y Y 6 Y 4 N - - FLG Ser535Pro S535P not reviewed Insufficiently evaluated not reviewed unknown Array rs74129464 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 3 - 4 N - - FLG His519Asn H519N not reviewed Insufficiently evaluated not reviewed unknown Array rs12036682 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y 0 - 4 N - - FLG Pro478Ser P478S not reviewed Insufficiently evaluated not reviewed unknown Array rs11584340 1705 10758 0.158487 36 0 40 2 2 - - - - 3 - - - - - - - Y - - - 0.001 Y Y 3 - 3 - 5 - - may confer susceptibility to the development of psoriasis and atopic dermatitis. FLG Thr454Ala T454A not reviewed Insufficiently evaluated not reviewed unknown Array rs2011331 2921 10758 0.271519 27 0 30 0 0 3 Y - - - - - - - - - - Y - - - 0.075 Y Y 1 - 3 - 1 - - FLG Gly444Arg G444R not reviewed Insufficiently evaluated not reviewed unknown Array rs11588170 1153 10758 0.107176 20 0 21 0 0 1 Y - - - - - - - - - - Y - - - 0.991 Y Y 6 Y 3 N - - FLG Gly441Glu G441E not reviewed Insufficiently evaluated not reviewed unknown Array 442 10758 0.0410857 8 0 10 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 6 Y 4 N - - FLG Gly332Val G332V not reviewed Insufficiently evaluated not reviewed unknown Array rs41267154 1677 10758 0.155884 25 0 27 0 0 1 Y - - - - - - - - - - Y - - - 0.995 Y Y 8 Y 3 N - - FLG Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array 471 10758 0.0437814 9 0 11 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 2 - 2 N - - FLG Asp26Asn D26N not reviewed Insufficiently evaluated not reviewed unknown Array rs73007748 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.963 Y Y -1 - 5 - 5 - - FLG Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.778 Y Y 1 - 4 - 10 - - FLG2 Ser2377Stop S2377X not reviewed Insufficiently evaluated not reviewed unknown Array rs12568784 2083 10758 0.193623 30 0 31 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - FLG2 Gly2088Stop G2088X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG2 Gly2055Arg G2055R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - FLG2 Asp1960Glu D1960E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 1 N - - FLG2 Ser1870Pro S1870P not reviewed Insufficiently evaluated not reviewed unknown Array rs73007784 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - FLG2 Gly1603Arg G1603R not reviewed Insufficiently evaluated not reviewed unknown Array rs74127928 120 10758 0.0111545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - FLG2 His1249Arg H1249R not reviewed Insufficiently evaluated not reviewed unknown Array rs16833974 721 10758 0.0670199 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FLG2 Gly1140Asp G1140D not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLG2 Arg916Lys R916K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FLG2 Ser850Phe S850F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLG2 Glu723Lys E723K not reviewed Insufficiently evaluated not reviewed unknown Array rs16842865 297 10758 0.0276074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - FLG2 Ser691Phe S691F not reviewed Insufficiently evaluated not reviewed unknown Array rs74127929 125 10758 0.0116193 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLG2 Cys298Ser C298S not reviewed Insufficiently evaluated not reviewed unknown Array rs2282302 1530 10758 0.14222 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FLG2 Arg276Gln R276Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2282303 2334 10758 0.216955 32 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FLG2 Glu245Lys E245K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLG2 Leu168Phe L168F not reviewed Insufficiently evaluated not reviewed unknown Array rs61749580 720 10758 0.0669269 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FLG2 Gly137Glu G137E not reviewed Insufficiently evaluated not reviewed unknown Array rs6587667 297 10758 0.0276074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLG2 Leu41Phe L41F not reviewed Insufficiently evaluated not reviewed unknown Array rs3818831 2623 10758 0.243819 35 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FLI1 Ala393Thr A393T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLII Ala1051Ser A1051S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLII Arg919Gly R919G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - FLJ10213 Ser46Pro S46P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ10213 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ10213 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ10357 Lys293Glu K293E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ10357 Arg685Cys R685C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLJ10357 Thr745Ile T745I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ10357 Val956Leu V956L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ10357 Leu1189Ser L1189S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ10357 Met1312Thr M1312T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ10404 Ser703Pro S703P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ11506 Ile132Leu I132L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLJ16686 Val14Asp V14D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLJ16686 Arg387Cys R387C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLJ16686 Tyr443His Y443H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ16686 Arg497His R497H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ16686 Pro498Thr P498T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLJ20184 Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ20184 Cys74Ser C74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ20184 Cys74Stop C74X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLJ20184 Val76Leu V76L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ20184 Met88Val M88V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ20184 Arg118Gly R118G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ20674 Ala484Ser A484S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ20674 Glu464Lys E464K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ20674 His435Tyr H435Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ20674 Val333Met V333M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ20674 Val274Met V274M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ21511 Pro2Thr P2T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLJ21511 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ21511 Glu516Gln E516Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLJ21511 His689Asn H689N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ22167 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ22167 Ser2Arg S2R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ23584 Trp125Arg W125R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ23584 Pro137Ser P137S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ23584 Ser218Phe S218F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLJ23834 Val55Met V55M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ23834 Gln61His Q61H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ25006 His65Leu H65L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - FLJ25363 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array rs769533 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ32682 Val653Phe V653F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ32682 Gly495Ala G495A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ32682 Arg410Trp R410W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ32682 Leu303Pro L303P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ32682 Glu178Lys E178K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ32682 Ser174Thr S174T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLJ32682 Tyr139His Y139H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ32682 Glu136Lys E136K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ32810 Ala380Thr A380T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - FLJ32810 Val713Ile V713I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ35220 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ35848 Asn320Thr N320T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ37078 Gly326Val G326V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLJ37543 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs16893687 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ37543 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array rs436696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ40504 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLJ41562 Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ41603 Arg136Pro R136P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLJ41603 Ala291Thr A291T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ41603 Leu323Met L323M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FLJ41603 Met421Leu M421L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FLJ41603 Ala463Thr A463T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ41603 Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ41603 Pro489Leu P489L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ41603 Ser518Arg S518R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ41603 Pro586Thr P586T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLJ41603 Met604Val M604V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ41603 Arg664Gln R664Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43080 Glu452Lys E452K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43080 Ser335Asn S335N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43080 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ43859 Gly882Arg G882R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ43860 Arg1229His R1229H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ43860 Gly1088Ser G1088S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ43860 Arg1083Gln R1083Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43860 Gly838Glu G838E not reviewed Insufficiently evaluated not reviewed unknown Array rs7003306 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ43860 Cys811Arg C811R not reviewed Insufficiently evaluated not reviewed unknown Array rs28439396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLJ43860 Pro792Leu P792L not reviewed Insufficiently evaluated not reviewed unknown Array rs28504323 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ43860 Arg753His R753H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ43860 Gly745Ser G745S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ43860 Ser736Asn S736N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43860 Gly690Arg G690R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ43860 Arg435Gln R435Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6997753 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43860 Ala375Val A375V not reviewed Insufficiently evaluated not reviewed unknown Array rs12547980 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ43860 Leu331Ser L331S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ43860 Leu289Met L289M not reviewed Insufficiently evaluated not reviewed unknown Array rs2748416 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FLJ43860 Ser190Asn S190N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43860 Gly90Cys G90C not reviewed Insufficiently evaluated not reviewed unknown Array rs2748404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ43860 Leu74Pro L74P not reviewed Insufficiently evaluated not reviewed unknown Array rs2613637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ43860 Tyr10His Y10H not reviewed Insufficiently evaluated not reviewed unknown Array rs2748421 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ43860 Arg8Lys R8K not reviewed Insufficiently evaluated not reviewed unknown Array rs2613648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FLJ44635 Ile8Thr I8T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLJ44635 Glu68Lys E68K not reviewed Insufficiently evaluated not reviewed unknown Array rs6624600 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ45079 Val128Ala V128A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ45422 His17Arg H17R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ45422 Ile30Val I30V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ45422 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ45422 Trp144Stop W144X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLJ45422 Cys172Tyr C172Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ45455 Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ46321 Arg189Gln R189Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ46321 Pro196Thr P196T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLJ46321 Lys421Arg K421R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FLJ46321 Trp428Stop W428X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLJ46321 Gln569Arg Q569R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ46321 Arg589Pro R589P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLNA Ala1756Thr A1756T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLNA Ala1764Thr A1764T pathogenic Insufficiently evaluated pathogenic dominant Array rs57108893 341 7910 0.04311 6 0 7 1 1 1 Y - - 0 Y 0 Y 4 - 1 - Y - - - - Y Y 1 - Periventricular Heterotopia, X-Linked 1 60 0 0 - 4 - 2 - - Associated with periventricular nodular heterotopia in a sporadic female case. FLNA Cys1453Phe C1453F not reviewed Insufficiently evaluated not reviewed unknown Array rs59731635 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 4 Y 4 N - - FLNA Ser1012Leu S1012L not reviewed Insufficiently evaluated not reviewed unknown Array rs17091204 400 8416 0.0475285 6 0 8 0 0 - - - - - - - - - - - - Y - - - 0.91 Y Y 6 Y 5 - 2 - - FLNA Val528Met V528M pathogenic Insufficiently evaluated pathogenic dominant Array 1 92 0.0108696 1 0 1 1 1 1 Y - - 0 Y 0 Y 4 - 1 - Y - - - 0.153 Y Y 0 - 2 N - - This X-linked variant was identified in a heterozygous Japanese female with bilateral periventricular heterotopias. FLNB Val989Met V989M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.198 Y Y 0 - 2 N - - FLNB Asp1157Asn D1157N not reviewed Insufficiently evaluated not reviewed unknown Array rs1131356 3265 10758 0.303495 36 0 50 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -1 - 3 N - - FLNB Glu1179Lys E1179K not reviewed Insufficiently evaluated not reviewed unknown Array rs17058845 265 10758 0.0246328 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 1 - - FLNB Val1471Met V1471M not reviewed Insufficiently evaluated not reviewed unknown Array rs12632456 3901 10758 0.362614 41 0 59 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 0 - 2 N - - FLNB Gly1782Ser G1782S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.944 Y Y 2 - 4 N - - FLNB Glu1859Stop E1859X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - FLNB Lys2006Arg K2006R not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -3 - 2 N - - FLNC Glu1492Lys E1492K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 0 - 2 N - - FLNC Arg1567Gln R1567Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2291569 679 10334 0.0657054 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.676 Y Y 0 - 2 N - - FLOT2 Lys335Glu K335E not reviewed Insufficiently evaluated not reviewed unknown Array rs61730546 38 10384 0.00365948 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLRT1 Ile653Thr I653T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLRT2 Arg486Gln R486Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17646457 1154 10758 0.107269 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.583 - - 0 - 0 N - - FLRT3 Glu460Asp E460D not reviewed Insufficiently evaluated not reviewed unknown Array rs35253731 618 10758 0.0574456 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FLRT3 His400Gln H400Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6079391 4169 10758 0.387526 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FLRT3 Ala383Gly A383G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLRT3 Gln378His Q378H not reviewed Insufficiently evaluated not reviewed unknown Array rs36034779 204 10758 0.0189626 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.516 - - -1 - 1 N - - FLT1 Gly531Glu G531E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - FLT1 Lys304Glu K304E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLT3 Ala988Pro A988P not reviewed Insufficiently evaluated not reviewed unknown Array rs74041526 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - FLT3 Val557Ile V557I not reviewed Insufficiently evaluated not reviewed unknown Array rs35958982 582 10758 0.0540993 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FLT3 Ile417Leu I417L not reviewed Insufficiently evaluated not reviewed unknown Array rs56090538 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 1 - 2 - - FLT3 Asp358Val D358V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 8 Y 2 - 3 - - FLT3 Thr227Met T227M not reviewed Insufficiently evaluated not reviewed unknown Array rs1933437 5616 10758 0.52203 42 0 54 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 1 N - - FLT3 Asp7Gly D7G not reviewed Insufficiently evaluated not reviewed unknown Array 254 1782 0.142536 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - FLT3LG Thr103Met T103M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - FLT4 Arg1321Gln R1321Q not reviewed Insufficiently evaluated not reviewed unknown Array 128 10754 0.0119025 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FLT4 Arg1146His R1146H not reviewed Insufficiently evaluated not reviewed unknown Array rs1130379 784 10758 0.072876 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 3 - 4 - - FLT4 Pro954Ser P954S pathogenic Insufficiently evaluated pathogenic recessive Array 40 10488 0.00381388 0 0 0 1 1 - - 0 - 0 Y 0 Y 1 - 3 Y Y Y - - 0.712 Y Y 3 - 5 N 9 - - This variant was found in 1/15 infantile hemangioma specimens (a benign tumor in infants). FLT4 His890Gln H890Q not reviewed Insufficiently evaluated not reviewed unknown Array rs448012 6409 10734 0.597075 14 0 16 0 0 - - - - - - - - - - - - Y - - - 0.714 Y Y -1 - 2 N - - FLT4 Asn527Ser N527S not reviewed Insufficiently evaluated not reviewed unknown Array rs35874891 332 10756 0.0308665 7 0 9 0 0 - - - - - - - - - - - - Y - - - 0.141 Y Y 0 - 3 - 2 - - FLT4 Thr494Ala T494A not reviewed Insufficiently evaluated not reviewed unknown Array rs307826 961 10758 0.0893289 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - 0.008 Y Y 1 - 3 - 5 - - FLT4 Asn149Asp N149D benign Low clinical importance, Likely benign unknown Array rs34221241 779 10744 0.0725056 5 0 5 1 1 1 Y - - 4 Y - - - - - - Y - - - 0.358 Y Y -1 - 3 - 1 0 1 Other severe variants in this gene are implicated in causing Milroy Disease (primary lymphedema) in a recessive manner. Although this variant is rare (2.3% allele frequency), it is still common enough that it is highly unlikely to have a severe, high penetrance pathogenic effect. FLVCR1 Ala52Pro A52P not reviewed Insufficiently evaluated not reviewed unknown Array rs11120047 3664 9314 0.393386 20 0 26 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - FLVCR1 Glu233Gln E233Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - -2 - 1 N - - FLVCR1 Thr544Met T544M not reviewed Insufficiently evaluated not reviewed unknown Array rs3207090 4105 10758 0.381577 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 0 N - - FLVCR2 Val16Ala V16A not reviewed Insufficiently evaluated not reviewed unknown Array rs2287015 3995 10758 0.371352 37 0 52 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FLVCR2 Leu419Phe L419F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - FLYWCH1 Thr400Ile T400I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10314 0.00203607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLYWCH1 Val708Ile V708I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10258 0.000194969 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FMN1 Ser695Gly S695G not reviewed Insufficiently evaluated not reviewed unknown Array rs57378148 33 9326 0.00353849 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - FMN1 Lys598Arg K598R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732708 216 10052 0.0214883 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y Y -3 - 3 N - - FMN1 Leu463Pro L463P not reviewed Insufficiently evaluated not reviewed unknown Array rs2306277 5271 9792 0.538297 39 0 49 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 2 N - - FMN1 Gly239Glu G239E not reviewed Insufficiently evaluated not reviewed unknown Array rs11072170 3008 10274 0.292778 29 0 33 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 2 N - - FMN1 Gly171Val G171V not reviewed Insufficiently evaluated not reviewed unknown Array rs11858145 6230 9846 0.632744 49 0 71 0 0 4 Y - - - - - - - - - - - - - - - Y Y 8 Y 2 N - - FMN1 Ser37Tyr S37Y not reviewed Insufficiently evaluated not reviewed unknown Array 49 9754 0.00502358 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 4 - 1 - - FMN2 Gly941Ala G941A not reviewed Insufficiently evaluated not reviewed unknown Array 819 10502 0.0779851 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FMN2 Pro958Leu P958L not reviewed Insufficiently evaluated not reviewed unknown Array 2068 10750 0.192372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FMN2 Pro988Leu P988L not reviewed Insufficiently evaluated not reviewed unknown Array 1925 10634 0.181023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FMN2 Pro1101Leu P1101L not reviewed Insufficiently evaluated not reviewed unknown Array 208 10016 0.0207668 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FMN2 Arg1148Gly R1148G not reviewed Insufficiently evaluated not reviewed unknown Array 8558 9116 0.938789 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 3 - - FMN2 Arg1468His R1468H not reviewed Insufficiently evaluated not reviewed unknown Array rs3795677 3113 10758 0.289366 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.041 - - 1 - 0 N - - FMNL1 Pro455Ala P455A not reviewed Insufficiently evaluated not reviewed unknown Array rs7218169 10301 10368 0.993538 41 0 43 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FMNL2 Met504Thr M504T not reviewed Insufficiently evaluated not reviewed unknown Array rs11897929 662 9892 0.0669228 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 1 - 5 - - FMO1 Ile303Val I303V not reviewed Insufficiently evaluated not reviewed unknown Array rs16864314 527 10758 0.0489868 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FMO2 Asp36Gly D36G not reviewed Insufficiently evaluated not reviewed unknown Array rs2020870 710 10758 0.0659974 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FMO2 Phe81Ser F81S not reviewed Insufficiently evaluated not reviewed unknown Array rs2020860 1269 10758 0.117959 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FMO2 Phe182Ser F182S not reviewed Insufficiently evaluated not reviewed unknown Array rs2307492 1322 10758 0.122885 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FMO2 Ser195Leu S195L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2020862 4136 10758 0.384458 31 0 31 0 0 5 Y - - - - - - - - - - - - - Y - - - 6 Y 1 N - - FMO2 Glu314Gly E314G not reviewed Insufficiently evaluated not reviewed unknown Array rs2020863 877 10758 0.0815207 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FMO2 Arg391Thr R391T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10756 0.00529937 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 8 - - FMO2 Glu402Lys E402K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FMO2 Asn413Lys N413K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2020865 1402 10758 0.130322 14 0 16 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 1 N - - FMO3 Asp132His D132H not reviewed Insufficiently evaluated not reviewed unknown Array rs12072582 152 10758 0.014129 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 10 - - FMO3 Glu158Lys E158K not reviewed Insufficiently evaluated not reviewed unknown Array rs2266782 4613 10758 0.428797 43 0 51 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 10 - - FMO3 Val257Met V257M benign Low clinical importance, Uncertain benign unknown Array rs1736557 614 10758 0.0570738 10 0 9 1 1 2 Y - - 1 Y 0 - - - - - Y Y - - - Y Y 0 - 4 N 9 0 0 This common variant (HapMap allele frequency of 9.2%) appears to have no functional effect. OMIM has recorded it as having been seen homozygously in an individual with Trimethylaminuria, but Treacy et al. 1998 conclude it is a polymorphism. FMO3 Glu308Gly E308G not reviewed Insufficiently evaluated not reviewed unknown Array rs2266780 1476 10758 0.1372 16 0 16 0 0 3 Y - - - - - - - - - - Y - - - 0.141 Y Y 6 Y 3 - 10 - - FMO3 Ser493Leu S493L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FMO4 Val323Ala V323A not reviewed Insufficiently evaluated not reviewed unknown Array rs1042767 892 10758 0.082915 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - FMO4 Gly372Ser G372S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - FMO4 Ser534Pro S534P not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - FMO5 Gly457Arg G457R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FMR1NB Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs764631 3175 8761 0.362402 34 0 55 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FN1 Arg1974Gln R1974Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Arg2094Gln R2094Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Arg2128Gln R2128Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Arg2153Gln R2153Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Arg2219Gln R2219Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Arg2275Gln R2275Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6728999 385 10758 0.0357873 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Val1960Ile V1960I not reviewed Insufficiently evaluated not reviewed unknown Array rs1250209 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FN1 Val2080Ile V2080I not reviewed Insufficiently evaluated not reviewed unknown Array rs1250209 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - FN1 Val2114Ile V2114I not reviewed Insufficiently evaluated not reviewed unknown Array rs1250209 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FN1 Val2139Ile V2139I not reviewed Insufficiently evaluated not reviewed unknown Array rs1250209 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - FN1 Val2205Ile V2205I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FN1 Val2261Ile V2261I not reviewed Insufficiently evaluated not reviewed unknown Array rs1250209 10756 10758 0.999814 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FN1 Pro1931Leu P1931L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FN1 Pro1996Leu P1996L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FN1 Pro2021Leu P2021L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - FN1 Pro2087Leu P2087L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FN1 Pro2112Leu P2112L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FN1 Thr817Pro T817P not reviewed Insufficiently evaluated not reviewed unknown Array rs2577301 10757 10758 0.999907 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FN1 Glu759Lys E759K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - FN1 Thr710Ile T710I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.554 - - 3 - 1 N - - FN1 Gln15Leu Q15L not reviewed Insufficiently evaluated not reviewed unknown Array rs1250259 8506 10752 0.791109 38 0 62 0 0 - - - - - - - - - - - - - - - - 0.963 - - 5 Y 1 N - - FNBP1 Ser490Asn S490N not reviewed Insufficiently evaluated not reviewed unknown Array rs1023000 5456 9984 0.546474 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FNDC1 Ser36Pro S36P not reviewed Insufficiently evaluated not reviewed unknown Array rs295332 266 1052 0.252852 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FNDC1 Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array rs62432291 439 9900 0.0443434 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 3 - 1 - - FNDC1 Thr438Ala T438A not reviewed Insufficiently evaluated not reviewed unknown Array rs509648 3516 9980 0.352305 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FNDC1 Glu463Gln E463Q not reviewed Insufficiently evaluated not reviewed unknown Array rs420137 8411 9830 0.855646 44 0 75 0 0 - - - - - - - - - - - - - - - - 0.25 - - -2 - 0 N - - FNDC1 Gly829Glu G829E not reviewed Insufficiently evaluated not reviewed unknown Array 94 10068 0.00933651 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 6 Y 2 N - - FNDC1 Ser955Asn S955N not reviewed Insufficiently evaluated not reviewed unknown Array rs73799344 661 10614 0.0622762 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - FNDC1 Gln1003Glu Q1003E not reviewed Insufficiently evaluated not reviewed unknown Array rs370434 8979 10514 0.854004 26 0 46 0 0 - - - - - - - - - - - - - - - - 0.25 - - -2 - 0 N - - FNDC1 Asp1180Glu D1180E not reviewed Insufficiently evaluated not reviewed unknown Array rs420054 8117 9486 0.855682 30 0 50 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 0 N - - FNDC1 Leu1261Pro L1261P not reviewed Insufficiently evaluated not reviewed unknown Array rs3003174 8411 9870 0.852178 37 0 66 0 0 - - - - - - - - - - - - - - - - 0.38 - - 7 Y 0 N - - FNDC1 Gln1280Arg Q1280R not reviewed Insufficiently evaluated not reviewed unknown Array rs2501176 8447 9908 0.852543 40 0 70 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 0 N - - FNDC1 Thr1479Ser T1479S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FNDC1 Thr1504Lys T1504K not reviewed Insufficiently evaluated not reviewed unknown Array rs386360 8001 9172 0.872329 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FNDC1 Asp1522Tyr D1522Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - FNDC1 Thr1574Ala T1574A not reviewed Insufficiently evaluated not reviewed unknown Array rs7763726 740 10056 0.0735879 10 0 14 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 1 N - - FNDC1 Ser1803Leu S1803L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - FNDC3A Pro105Ala P105A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - FNDC3A Pro49Ala P49A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FNDC3B Thr179Ser T179S not reviewed Insufficiently evaluated not reviewed unknown Array rs7652177 6630 10758 0.616286 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FNDC4 Gln215Arg Q215R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FNDC7 Arg224Leu R224L not reviewed Insufficiently evaluated not reviewed unknown Array rs4423040 5431 10758 0.504834 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FNDC7 Ser245Gly S245G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FNDC7 Ser309Asn S309N not reviewed Insufficiently evaluated not reviewed unknown Array rs11582005 2185 10758 0.203105 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FNDC7 Val353Ala V353A not reviewed Insufficiently evaluated not reviewed unknown Array rs4494160 7963 10758 0.740193 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FNDC7 Asn367Ser N367S not reviewed Insufficiently evaluated not reviewed unknown Array 1046 10758 0.09723 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FNDC7 Asn560Lys N560K not reviewed Insufficiently evaluated not reviewed unknown Array 331 10758 0.0307678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNDC7 Pro685Leu P685L not reviewed Insufficiently evaluated not reviewed unknown Array 297 10758 0.0276074 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FNDC8 Ser36Pro S36P not reviewed Insufficiently evaluated not reviewed unknown Array rs1871892 7966 10758 0.740472 49 0 88 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FNIP1 Asp775Tyr D775Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FNIP1 Asp803Tyr D803Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FNIP1 Val710Leu V710L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FNIP1 Val738Leu V738L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FNIP1 Gln620Arg Q620R not reviewed Insufficiently evaluated not reviewed unknown Array rs26008 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FNIP1 Gln648Arg Q648R not reviewed Insufficiently evaluated not reviewed unknown Array rs26008 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FNIP1 Thr381Met T381M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FNIP1 Thr409Met T409M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FNIP1 Gly76Cys G76C not reviewed Insufficiently evaluated not reviewed unknown Array rs7730228 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FNIP2 Thr298Ser T298S not reviewed Insufficiently evaluated not reviewed unknown Array rs2276938 715 9608 0.0744172 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 1 - 2 - - FNIP2 Ser551Arg S551R not reviewed Insufficiently evaluated not reviewed unknown Array 228 10412 0.0218978 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - FOLH1 His475Tyr H475Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61886492 443 10748 0.041217 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FOLH1 Arg190Trp R190W not reviewed Insufficiently evaluated not reviewed unknown Array 1065 10754 0.0990329 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - FOLH1 Tyr75His Y75H not reviewed Insufficiently evaluated not reviewed unknown Array rs202676 3540 10746 0.329425 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FOLH1B Ala84Glu A84E not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.206 - - 3 - 1 N - - FOLH1B Asn151Lys N151K not reviewed Insufficiently evaluated not reviewed unknown Array rs10830339 3380 10744 0.314594 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 1 N - - FOLR1 Arg98Trp R98W not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - FOLR3 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOLR3 Gly198Ser G198S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FOLR3 Ser216Arg S216R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOLR4 Cys3Trp C3W not reviewed Insufficiently evaluated not reviewed unknown Array rs61742524 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FOXA1 Ser448Asn S448N not reviewed Insufficiently evaluated not reviewed unknown Array rs33984772 719 10758 0.066834 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FOXA1 Ala83Thr A83T not reviewed Insufficiently evaluated not reviewed unknown Array rs7144658 5581 10258 0.544063 19 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FOXA1 Gly37Val G37V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - FOXB2 Trp87Cys W87C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FOXD1 Ser436Gly S436G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FOXD2 Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 277 5748 0.0481907 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXD2 Ala368Pro A368P not reviewed Insufficiently evaluated not reviewed unknown Array rs2405913 32 32 1 16 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FOXD3 Val96Leu V96L not reviewed Insufficiently evaluated not reviewed unknown Array 42 4238 0.00991033 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - FOXD4 Ser430Gly S430G not reviewed Insufficiently evaluated not reviewed unknown Array rs4742632 2445 10328 0.236735 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FOXD4 Pro205Leu P205L not reviewed Insufficiently evaluated not reviewed unknown Array 145 10550 0.0137441 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FOXD4 Asp136Gly D136G not reviewed Insufficiently evaluated not reviewed unknown Array rs2492216 4332 10254 0.422469 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FOXD4 Ala41Glu A41E not reviewed Insufficiently evaluated not reviewed unknown Array 239 10752 0.0222284 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXD4L1 Leu183Arg L183R not reviewed Insufficiently evaluated not reviewed unknown Array rs13428956 635 10228 0.0620845 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - FOXD4L1 Met190Val M190V not reviewed Insufficiently evaluated not reviewed unknown Array 70 9874 0.00708933 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FOXF1 Asn159Ser N159S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXJ3 Thr377Pro T377P not reviewed Insufficiently evaluated not reviewed unknown Array rs1139978 1128 10758 0.104852 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FOXJ3 Ser352Asn S352N not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXJ3 Val162Ala V162A not reviewed Insufficiently evaluated not reviewed unknown Array rs343376 8441 10758 0.784625 53 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FOXK1 Ala680Gly A680G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - FOXK2 Arg544Gln R544Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73999998 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 1 N - - FOXK2 Ile572Val I572V not reviewed Insufficiently evaluated not reviewed unknown Array rs35870621 338 10756 0.0314243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - FOXL1 Arg140His R140H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXL1 Gly272Ser G272S not reviewed Insufficiently evaluated not reviewed unknown Array 170 10744 0.0158228 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FOXM1 Pro654Arg P654R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FOXM1 Pro669Arg P669R not reviewed Insufficiently evaluated not reviewed unknown Array rs28919869 173 10758 0.0160811 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FOXM1 Pro707Arg P707R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 5 Y 1 N - - FOXM1 Ser628Pro S628P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742076 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXM1 Ser643Pro S643P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742076 2688 10758 0.249861 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FOXM1 Ser681Pro S681P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742076 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXM1 Phe435Leu F435L not reviewed Insufficiently evaluated not reviewed unknown Array rs28919868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXM1 Phe450Leu F450L not reviewed Insufficiently evaluated not reviewed unknown Array rs28919868 762 10758 0.070831 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FOXM1 Phe488Leu F488L not reviewed Insufficiently evaluated not reviewed unknown Array rs28919868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXN1 Arg69Cys R69C not reviewed Insufficiently evaluated not reviewed unknown Array rs2071587 643 10758 0.0597695 8 0 8 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 8 Y 1 - 4 - - FOXN1 Pro430Ser P430S not reviewed Insufficiently evaluated not reviewed unknown Array 317 10758 0.0294664 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - FOXN1 Cys586Tyr C586Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73278523 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 6 Y 2 N - - FOXN1 Ala599Pro A599P not reviewed Insufficiently evaluated not reviewed unknown Array rs532648 4124 10758 0.383343 42 0 54 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 0 N - - FOXN3 Ala393Thr A393T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXN3 Ala415Thr A415T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FOXN3 Ala282Pro A282P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FOXN3 Ala304Pro A304P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10746 0.00111669 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FOXO1 Ala98Asp A98D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 5 Y 1 N - - FOXO1 Ala96Ser A96S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FOXO1 Asp82Asn D82N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - -1 - 2 N - - FOXO3 Arg99Trp R99W not reviewed Insufficiently evaluated not reviewed unknown Array 149 6098 0.0244342 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 7 Y 3 - 2 - - FOXO3 Ala140Val A140V not reviewed Insufficiently evaluated not reviewed unknown Array 280 8776 0.0319052 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.617 - - 2 - 1 N - - FOXO3 Pro456Gln P456Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - FOXP1 Arg525Stop R525X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FOXP1 Leu414Pro L414P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 7 Y 0 N - - FOXQ1 Leu20Pro L20P not reviewed Insufficiently evaluated not reviewed unknown Array 340 9204 0.0369405 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 7 Y 1 N - - FOXQ1 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 1052 6888 0.152729 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 0 N - - FOXQ1 Thr60Pro T60P not reviewed Insufficiently evaluated not reviewed unknown Array rs9502889 3946 4174 0.945376 9 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - FOXQ1 Gln61Pro Q61P not reviewed Insufficiently evaluated not reviewed unknown Array rs9502890 3559 3780 0.941534 7 0 12 0 0 - - - - - - - - - - - - - - - - 0.014 - - 4 Y 0 N - - FOXQ1 Glu338Gly E338G not reviewed Insufficiently evaluated not reviewed unknown Array 18 82 0.219512 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FOXR1 Arg73Cys R73C not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - FOXR2 Val286Ala V286A not reviewed Insufficiently evaluated not reviewed unknown Array rs2375465 7010 8761 0.800137 44 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FOXRED1 Pro19Thr P19T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 4 Y 1 N - - FOXRED1 Thr102Met T102M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.151 - - 2 - 0 N - - FOXRED1 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - FOXRED1 His380Arg H380R not reviewed Insufficiently evaluated not reviewed unknown Array rs7116126 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 3 - 2 - - FOXRED2 Lys374Arg K374R not reviewed Insufficiently evaluated not reviewed unknown Array rs35813894 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FOXRED2 Asn308Ser N308S not reviewed Insufficiently evaluated not reviewed unknown Array rs2277841 8954 10758 0.832311 49 0 86 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - FOXRED2 Phe179Leu F179L not reviewed Insufficiently evaluated not reviewed unknown Array rs760718 6653 10758 0.618424 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FOXRED2 Arg71Cys R71C not reviewed Insufficiently evaluated not reviewed unknown Array rs56767103 317 10758 0.0294664 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.553 - - 8 Y 1 N - - FPGS Ile22Val I22V not reviewed Insufficiently evaluated not reviewed unknown Array rs10760502 4770 6142 0.77662 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FPGT Pro448Leu P448L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - FPR1 Glu346Ala E346A not reviewed Insufficiently evaluated not reviewed unknown Array rs867228 8598 10758 0.799219 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FPR1 Asn192Lys N192K not reviewed Insufficiently evaluated not reviewed unknown Array rs1042229 4665 10758 0.433631 42 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FPR1 Arg190Trp R190W not reviewed Insufficiently evaluated not reviewed unknown Array rs5030880 1211 10758 0.112567 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FPR1 Val101Leu V101L not reviewed Insufficiently evaluated not reviewed unknown Array rs2070745 3674 10758 0.341513 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FPR1 Leu97Met L97M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FPR1 Ile11Thr I11T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5030878 8317 10758 0.773099 52 0 84 2 2 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - FRAS1 Asp32Gly D32G not reviewed Insufficiently evaluated not reviewed unknown Array rs4859905 4675 9624 0.485765 47 0 67 0 0 3 Y - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - FRAS1 Asp54His D54H not reviewed Insufficiently evaluated not reviewed unknown Array rs17003071 407 9998 0.0407081 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - FRAS1 Glu103Val E103V not reviewed Insufficiently evaluated not reviewed unknown Array 160 9810 0.0163099 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - FRAS1 Pro209Ser P209S not reviewed Insufficiently evaluated not reviewed unknown Array rs7699637 275 10078 0.0272872 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - FRAS1 Tyr228His Y228H not reviewed Insufficiently evaluated not reviewed unknown Array rs7682296 293 10162 0.0288329 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - FRAS1 Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array rs6848030 150 10142 0.01479 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - FRAS1 Ser429Tyr S429Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6838959 146 10206 0.0143053 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - FRAS1 Leu466Ile L466I not reviewed Insufficiently evaluated not reviewed unknown Array rs12504081 2991 10200 0.293235 28 0 33 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - FRAS1 Asp687Gly D687G not reviewed Insufficiently evaluated not reviewed unknown Array rs345513 4100 10002 0.409918 41 0 55 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - FRAS1 Ile710Leu I710L not reviewed Insufficiently evaluated not reviewed unknown Array rs345512 452 9892 0.0456935 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FRAS1 Ala817Val A817V not reviewed Insufficiently evaluated not reviewed unknown Array rs6835769 4474 10482 0.426827 24 0 36 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - FRAS1 Glu1135Lys E1135K not reviewed Insufficiently evaluated not reviewed unknown Array rs12512164 31 128 0.242188 17 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - FRAS1 Asp1136Asn D1136N not reviewed Insufficiently evaluated not reviewed unknown Array rs73828000 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - FRAS1 Val2176Ala V2176A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FRAS1 Glu2344Lys E2344K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FRAS1 Lys2377Glu K2377E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FRAS1 Val3565Ile V3565I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - FRAS1 Val3625Ala V3625A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FRAT2 Ala83Thr A83T not reviewed Insufficiently evaluated not reviewed unknown Array 36 254 0.141732 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.607 - - 1 - 1 - 1 - - FREM1 Gln2143Pro Q2143P not reviewed Insufficiently evaluated not reviewed unknown Array rs10961689 7361 9776 0.752966 54 0 88 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - FREM1 Ala1784Thr A1784T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - FREM1 Ile1777Val I1777V not reviewed Insufficiently evaluated not reviewed unknown Array 39 9550 0.00408377 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FREM1 Val1502Met V1502M not reviewed Insufficiently evaluated not reviewed unknown Array rs10961700 1198 10132 0.118239 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - FREM1 Ala1212Ser A1212S not reviewed Insufficiently evaluated not reviewed unknown Array rs35870000 2682 10040 0.267131 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - FREM1 Ser1202Arg S1202R not reviewed Insufficiently evaluated not reviewed unknown Array rs16932300 1391 10078 0.138023 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FREM1 Arg1192His R1192H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10222 0.000880453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.521 - - 1 - 1 N - - FREM1 Leu863Val L863V not reviewed Insufficiently evaluated not reviewed unknown Array rs7041710 1212 9644 0.125674 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FREM1 Ser803Tyr S803Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7023244 2055 9896 0.20766 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.785 - - 5 Y 0 N - - FREM1 Gly465Ala G465A not reviewed Insufficiently evaluated not reviewed unknown Array rs41298151 107 10370 0.0103182 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.489 - - 1 - 1 N - - FREM1 Val439Leu V439L not reviewed Insufficiently evaluated not reviewed unknown Array rs2779500 5848 10380 0.563391 41 0 59 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - FREM2 Arg722Lys R722K not reviewed Insufficiently evaluated not reviewed unknown Array rs58363253 669 10758 0.0621863 8 0 7 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -3 - 1 N - - FREM2 Ser745Pro S745P not reviewed Insufficiently evaluated not reviewed unknown Array rs2496423 10756 10758 0.999814 56 0 112 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - FREM2 Val770Met V770M not reviewed Insufficiently evaluated not reviewed unknown Array rs7327915 466 10758 0.0433166 5 0 4 0 0 - - - - - - - - - - - - Y - - - 0.032 Y - 0 - 1 N - - FREM2 Pro830Leu P830L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - FREM2 Leu868Val L868V not reviewed Insufficiently evaluated not reviewed unknown Array rs7329939 669 10758 0.0621863 8 0 7 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - FREM2 Glu993Gly E993G not reviewed Insufficiently evaluated not reviewed unknown Array rs61742843 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.054 Y - 6 Y 1 N - - FREM2 Met1039Lys M1039K not reviewed Insufficiently evaluated not reviewed unknown Array rs2496424 204 10758 0.0189626 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.478 Y - 4 Y 2 N - - FREM2 Phe1070Ser F1070S not reviewed Insufficiently evaluated not reviewed unknown Array rs2496425 4714 10758 0.438186 39 0 57 0 0 3 Y - - - - - - - - - - Y - - - - Y - 5 Y 2 - 1 - - FREM2 Ile1419Val I1419V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -4 - 1 N - - FREM2 Arg1639Lys R1639K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.07 Y - -3 - 1 N - - FREM2 Arg1668His R1668H not reviewed Insufficiently evaluated not reviewed unknown Array rs1868463 538 10758 0.0500093 9 0 9 0 0 - - - - - - - - - - - - Y - - - 0.762 Y - 1 - 1 N - - FREM2 Arg1840Trp R1840W not reviewed Insufficiently evaluated not reviewed unknown Array rs9603422 1673 10758 0.155512 14 0 14 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 - 2 - - FREM2 Val2043Ile V2043I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.782 Y - -4 - 2 N - - FREM2 Arg2066Cys R2066C not reviewed Insufficiently evaluated not reviewed unknown Array rs9548505 1300 10758 0.12084 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 8 Y 2 N - - FREM2 Thr2153Ser T2153S not reviewed Insufficiently evaluated not reviewed unknown Array rs35252750 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FREM2 Thr2326Ile T2326I not reviewed Insufficiently evaluated not reviewed unknown Array rs9548509 7811 10758 0.726064 53 0 88 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 1 - - FREM2 Val2330Ala V2330A not reviewed Insufficiently evaluated not reviewed unknown Array rs61744595 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 2 - 1 N - - FRG1 Leu14Phe L14F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRG1 Thr19Ala T19A not reviewed Insufficiently evaluated not reviewed unknown Array rs17797703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRG1 Ser26Asn S26N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10610 0.000659754 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRG1 Val50Leu V50L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.644 - - 0 - 1 N - - FRG1 Thr51Ile T51I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - FRG1 Glu55Gly E55G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - FRG1 Ser57Pro S57P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 3 - 0 N - - FRG1 Thr98Ser T98S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - FRG1 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 1 - - FRG1 Gly123Glu G123E not reviewed Insufficiently evaluated not reviewed unknown Array rs1061653 3268 10758 0.303774 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 6 Y 0 N - - FRG1 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 1 - 0 N - - FRG1 Ile132Val I132V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.264 - - -4 - 1 N - - FRG1 Gly133Glu G133E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FRG1 Trp138Stop W138X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FRG1 Ile178Met I178M not reviewed Insufficiently evaluated not reviewed unknown Array 3486 10614 0.328434 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - -1 - 0 N - - FRG1 Thr188Ala T188A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - FRG1 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - FRG1 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1803593 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.61 - - 0 - 1 N - - FRG2B Thr269Pro T269P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FRG2B Arg155Cys R155C not reviewed Insufficiently evaluated not reviewed unknown Array 3 12 0.25 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 1 N - - FRG2B Asp142Gly D142G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 4 Y 1 N - - FRG2B Lys116Glu K116E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FRG2B His11Gln H11Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - FRG2B His11Tyr H11Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - FRG2B Asp9Asn D9N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -1 - 1 N - - FRG2C Pro8Thr P8T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FRG2C Cys12Arg C12R not reviewed Insufficiently evaluated not reviewed unknown Array rs13073018 5 16 0.3125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 0 N - - FRG2C Thr30Ser T30S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -2 - 1 N - - FRG2C Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array 2 18 0.111111 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - FRG2C Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 14 20 0.7 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 0 N - - FRG2C Ser81Arg S81R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 1 N - - FRG2C Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - FRG2C Gln93Arg Q93R not reviewed Insufficiently evaluated not reviewed unknown Array 18 20 0.9 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FRG2C Ile106Ser I106S not reviewed Insufficiently evaluated not reviewed unknown Array rs73840323 19 22 0.863636 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FRG2C Asp109Tyr D109Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 16 0.125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.313 - - 7 Y 0 N - - FRG2C Asn120Ser N120S not reviewed Insufficiently evaluated not reviewed unknown Array rs62247157 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRG2C Asp143Gly D143G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 4 Y 1 N - - FRG2C Ser149Arg S149R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRG2C Arg156Cys R156C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FRG2C Arg161Lys R161K not reviewed Insufficiently evaluated not reviewed unknown Array 1 40 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -3 - 0 N - - FRG2C Glu166Gly E166G not reviewed Insufficiently evaluated not reviewed unknown Array 1 6 0.166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FRG2C Val167Asp V167D not reviewed Insufficiently evaluated not reviewed unknown Array 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 8 Y 0 N - - FRG2C Ala192Thr A192T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - FRG2C Leu203Met L203M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - FRG2C Leu210Met L210M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 1 - 1 - - FRG2C Ala259Thr A259T not reviewed Insufficiently evaluated not reviewed unknown Array rs73840339 1 12 0.0833333 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - FRG2C Pro261Ser P261S not reviewed Insufficiently evaluated not reviewed unknown Array 1 16 0.0625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.402 - - 3 - 0 N - - FRK Gly122Arg G122R not reviewed Insufficiently evaluated not reviewed unknown Array rs3756772 3763 10756 0.349851 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FRMD1 Gln388Glu Q388E not reviewed Insufficiently evaluated not reviewed unknown Array rs1548349 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FRMD1 Gln456Glu Q456E not reviewed Insufficiently evaluated not reviewed unknown Array rs1548349 9490 10704 0.886584 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FRMD1 Val349Met V349M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD1 Val417Met V417M not reviewed Insufficiently evaluated not reviewed unknown Array rs73262843 93 10758 0.00864473 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD1 His315Gln H315Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FRMD1 His383Gln H383Q not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.742 - - -1 - 1 N - - FRMD1 Ser306Gly S306G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMD1 Ser374Gly S374G not reviewed Insufficiently evaluated not reviewed unknown Array 106 10754 0.0098568 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - FRMD1 Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRMD1 Ala303Thr A303T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - FRMD1 Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FRMD1 Arg274Cys R274C not reviewed Insufficiently evaluated not reviewed unknown Array rs902393 741 10758 0.068879 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 1 N - - FRMD1 Arg160Gln R160Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD1 Arg228Gln R228Q not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 3 - 2 - - FRMD1 Gly150Arg G150R not reviewed Insufficiently evaluated not reviewed unknown Array rs41266313 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 6 Y 2 N - - FRMD1 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FRMD3 Asp485Tyr D485Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4877747 198 9980 0.0198397 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.515 - - 7 Y 1 N - - FRMD4A His699Leu H699L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - FRMD4A His683Gln H683Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - FRMD4A Ile510Val I510V not reviewed Insufficiently evaluated not reviewed unknown Array rs74121825 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - -4 - 1 N - - FRMD4A Ala181Gly A181G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.411 - - 1 - 1 N - - FRMD4B Ser947Leu S947L not reviewed Insufficiently evaluated not reviewed unknown Array rs9831516 8805 9984 0.881911 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FRMD4B Thr396Ala T396A not reviewed Insufficiently evaluated not reviewed unknown Array rs9310141 9499 9814 0.967903 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FRMD4B Arg317Leu R317L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FRMD4B Glu173Asp E173D not reviewed Insufficiently evaluated not reviewed unknown Array rs4361282 2416 9892 0.244238 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FRMD5 Arg237Lys R237K not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.218 - - -3 - 1 N - - FRMD6 Gly388Ser G388S not reviewed Insufficiently evaluated not reviewed unknown Array rs73296973 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMD6 His567Gln H567Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FRMD7 Ile599Leu I599L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.697 - Y -2 - 2 N - - FRMD7 Arg468His R468H not reviewed Insufficiently evaluated not reviewed unknown Array rs6637934 559 8761 0.0638055 6 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 - 2 - - FRMD7 Ser281Leu S281L not reviewed Insufficiently evaluated not reviewed unknown Array rs5977625 646 8761 0.0737359 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.265 - Y 6 Y 2 - 4 - - FRMD8 His18Pro H18P not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - FRMPD1 Thr6Pro T6P not reviewed Insufficiently evaluated not reviewed unknown Array rs3747539 1606 10758 0.149284 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - FRMPD1 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array rs2296556 192 10758 0.0178472 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRMPD1 Ala225Val A225V not reviewed Insufficiently evaluated not reviewed unknown Array rs1359590 2147 10758 0.199572 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FRMPD1 Ala961Val A961V not reviewed Insufficiently evaluated not reviewed unknown Array rs73447213 209 10758 0.0194274 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMPD1 Gly1092Glu G1092E not reviewed Insufficiently evaluated not reviewed unknown Array rs35075933 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FRMPD1 Pro1178Leu P1178L not reviewed Insufficiently evaluated not reviewed unknown Array rs62640016 138 10756 0.01283 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - FRMPD1 Val1217Ile V1217I not reviewed Insufficiently evaluated not reviewed unknown Array rs57942614 209 10758 0.0194274 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FRMPD2 Glu1153Stop E1153X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FRMPD2 Glu1175Stop E1175X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FRMPD2 Glu127Stop E127X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FRMPD2 Glu186Stop E186X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FRMPD2 Thr1021Lys T1021K not reviewed Insufficiently evaluated not reviewed unknown Array rs1898784 849 3646 0.232858 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FRMPD2 Thr32Lys T32K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRMPD2 Thr999Lys T999K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRMPD2 Ala923Val A923V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMPD2 Ala945Val A945V not reviewed Insufficiently evaluated not reviewed unknown Array 280 10488 0.0266972 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - FRMPD2 Ser852Gly S852G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMPD2 Ser874Gly S874G not reviewed Insufficiently evaluated not reviewed unknown Array 118 472 0.25 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - FRMPD2 Lys512Glu K512E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMPD2 Lys534Glu K534E not reviewed Insufficiently evaluated not reviewed unknown Array rs1864345 3536 10758 0.328686 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FRMPD2 Val349Met V349M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMPD2 Val371Met V371M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.492 - - 0 - 1 N - - FRMPD2 Thr217Met T217M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - FRMPD2 Thr239Met T239M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.351 - - 2 - 2 - 2 - - FRRS1 Met555Ile M555I not reviewed Insufficiently evaluated not reviewed unknown Array rs12145706 1569 10756 0.145872 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FRS3 Ser437Leu S437L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - 6 Y 0 N - - FRS3 Pro172Leu P172L not reviewed Insufficiently evaluated not reviewed unknown Array 301 10566 0.0284876 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - FRY Cys1324Ser C1324S not reviewed Insufficiently evaluated not reviewed unknown Array rs61750791 327 10060 0.032505 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRY Gly1968Ser G1968S not reviewed Insufficiently evaluated not reviewed unknown Array rs2806639 3227 10134 0.318433 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FRYL Asn2790Ser N2790S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9638 0.000103755 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - FRYL Arg2633Thr R2633T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - FRYL Thr2178Ala T2178A not reviewed Insufficiently evaluated not reviewed unknown Array 44 9706 0.00453328 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRYL Ile1878Val I1878V not reviewed Insufficiently evaluated not reviewed unknown Array rs7670111 192 9502 0.0202063 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.85 - - -4 - 3 - 2 - - FRYL Val707Ile V707I not reviewed Insufficiently evaluated not reviewed unknown Array 100 9678 0.0103327 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - FRZB Arg324Gly R324G not reviewed Insufficiently evaluated not reviewed unknown Array rs7775 1672 10758 0.155419 18 0 19 0 0 3 Y - - - - - - - - - - - Y - - 0.993 - - 6 Y 3 N - - FRZB Arg200Trp R200W not reviewed Insufficiently evaluated not reviewed unknown Array rs288326 924 10758 0.0858896 6 0 6 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 3 N - - FSCB Ala668Ser A668S not reviewed Insufficiently evaluated not reviewed unknown Array 4432 10660 0.41576 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FSCB Gln509Leu Q509L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FSCB Arg438Gly R438G not reviewed Insufficiently evaluated not reviewed unknown Array rs35809445 153 10604 0.0144285 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FSCB Asp423Glu D423E not reviewed Insufficiently evaluated not reviewed unknown Array rs3825632 4844 10692 0.453049 25 0 35 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - FSCB Pro409Ser P409S not reviewed Insufficiently evaluated not reviewed unknown Array rs1959379 1755 10744 0.163347 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 1 N - - FSCB Leu380Pro L380P not reviewed Insufficiently evaluated not reviewed unknown Array rs3825630 1777 10758 0.165179 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.693 - - 7 Y 0 N - - FSCB Pro227Leu P227L not reviewed Insufficiently evaluated not reviewed unknown Array rs45478391 1631 10758 0.151608 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 1 N - - FSCB His195Gln H195Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3809429 1803 10758 0.167596 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 1 N - - FSCB Gln74Stop Q74X not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - FSCN3 Ala24Ser A24S not reviewed Insufficiently evaluated not reviewed unknown Array rs3779536 840 10758 0.0780814 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.184 - - -1 - 0 N - - FSCN3 Leu97Met L97M not reviewed Insufficiently evaluated not reviewed unknown Array rs73720861 210 10758 0.0195204 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - -3 - 0 N - - FSCN3 Met217Val M217V not reviewed Insufficiently evaluated not reviewed unknown Array 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - FSCN3 Ser267Thr S267T not reviewed Insufficiently evaluated not reviewed unknown Array rs73720862 335 10758 0.0311396 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSCN3 Pro424Leu P424L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - FSD1 Leu232Val L232V not reviewed Insufficiently evaluated not reviewed unknown Array rs35139245 251 10756 0.0233358 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 4 - - FSD1L Ser64Ile S64I not reviewed Insufficiently evaluated not reviewed unknown Array rs41316532 30 3224 0.00930521 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FSD1L Ser96Ile S96I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FSD1L Lys118Arg K118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FSD1L Thr286Lys T286K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSD1L Thr318Lys T318K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSD2 Glu720Lys E720K not reviewed Insufficiently evaluated not reviewed unknown Array rs1108134 1513 9600 0.157604 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 2 - - FSD2 His621Tyr H621Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74028555 23 10202 0.00225446 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - -1 - 2 N - - FSD2 Lys333Thr K333T not reviewed Insufficiently evaluated not reviewed unknown Array rs4779061 1190 9588 0.124113 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - FSD2 Lys273Asn K273N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 2 N - - FSHR Ser618Asn S618N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FSHR Ser680Asn S680N not reviewed Insufficiently evaluated not reviewed unknown Array rs6166 5977 10758 0.555587 47 0 65 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 10 - - FSHR Ala245Thr A245T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - FSHR Ala307Thr A307T not reviewed Insufficiently evaluated not reviewed unknown Array rs6165 4854 10758 0.451199 40 0 54 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 10 - - FSHR Arg162Lys R162K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - FSIP1 Pro561Leu P561L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 7 Y 1 N - - FSIP1 Gly528Ala G528A not reviewed Insufficiently evaluated not reviewed unknown Array rs16969386 1154 10758 0.107269 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.239 - - 1 - 0 N - - FSIP1 Leu411Phe L411F not reviewed Insufficiently evaluated not reviewed unknown Array rs12908846 1134 10740 0.105587 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - FSIP1 Cys402Arg C402R not reviewed Insufficiently evaluated not reviewed unknown Array rs10152640 4429 10634 0.416494 42 0 56 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FSIP1 Glu374Gly E374G not reviewed Insufficiently evaluated not reviewed unknown Array rs16969673 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 6 Y 1 - 3 - - FSIP1 Arg354His R354H not reviewed Insufficiently evaluated not reviewed unknown Array rs937961 1484 10758 0.137944 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FSIP1 Glu54Gln E54Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - FSTL1 Gln291Lys Q291K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - FSTL4 Thr757Met T757M not reviewed Insufficiently evaluated not reviewed unknown Array rs3749817 1815 10758 0.168712 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FSTL5 Lys805Glu K805E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSTL5 Lys814Glu K814E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSTL5 Lys815Glu K815E not reviewed Insufficiently evaluated not reviewed unknown Array rs17040982 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.208 - - 0 - 1 N - - FSTL5 Asp701Tyr D701Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSTL5 Asp710Tyr D710Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSTL5 Asp711Tyr D711Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3749598 906 10758 0.0842164 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 1 N - - FSTL5 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FTCD Arg446Gln R446Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 2 - 1 - - FTCD Ala438Val A438V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735841 783 10578 0.0740216 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - FTCD Val101Met V101M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735836 519 10494 0.0494568 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FTHL17 Glu148Val E148V not reviewed Insufficiently evaluated not reviewed unknown Array 66 8759 0.00753511 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 5 Y 2 N - - FTHL17 Glu148Stop E148X not reviewed Insufficiently evaluated not reviewed unknown Array 66 8759 0.00753511 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FTHL17 His66Gln H66Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 8759 0.00353922 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.709 - - -1 - 1 N - - FTSJ1 Ile102Phe I102F not reviewed Insufficiently evaluated not reviewed unknown Array 17 8761 0.00194042 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.035 Y - 2 - 1 N - - FTSJ1 Gln103Glu Q103E not reviewed Insufficiently evaluated not reviewed unknown Array 62 8761 0.00707682 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FTSJ1 Val177Met V177M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.978 Y - 0 - 3 N - - FTSJ2 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - FTSJ2 Ser11Phe S11F not reviewed Insufficiently evaluated not reviewed unknown Array rs55904231 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FTSJ3 Ser598Phe S598F not reviewed Insufficiently evaluated not reviewed unknown Array rs61742931 204 10758 0.0189626 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FTSJ3 Ser424Cys S424C not reviewed Insufficiently evaluated not reviewed unknown Array rs2727288 7567 10758 0.703384 50 0 76 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - FTSJ3 Thr348Ile T348I not reviewed Insufficiently evaluated not reviewed unknown Array rs60380208 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - FTSJ3 Gln91Glu Q91E not reviewed Insufficiently evaluated not reviewed unknown Array rs2584625 7627 10758 0.708961 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FTSJD1 Asn764Ser N764S not reviewed Insufficiently evaluated not reviewed unknown Array 565 10754 0.0525386 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FTSJD1 Thr608Lys T608K not reviewed Insufficiently evaluated not reviewed unknown Array rs3096381 1509 10758 0.140268 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FTSJD1 Asn416Ser N416S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803704 2727 10712 0.254574 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FTSJD1 Leu60Phe L60F not reviewed Insufficiently evaluated not reviewed unknown Array rs3096380 10356 10758 0.962632 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FUCA1 Gln286Arg Q286R not reviewed Insufficiently evaluated not reviewed unknown Array rs13551 2836 10758 0.263618 21 0 25 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - FUCA1 Pro10Arg P10R not reviewed Insufficiently evaluated not reviewed unknown Array rs2070956 585 8768 0.0667199 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.894 Y - 5 Y 2 N - - FUCA1 Arg2Trp R2W not reviewed Insufficiently evaluated not reviewed unknown Array rs2070955 689 8504 0.0810207 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.928 Y - 7 Y 2 N - - FUCA2 His371Tyr H371Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3762001 2136 10758 0.19855 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FUCA2 Met356Val M356V not reviewed Insufficiently evaluated not reviewed unknown Array rs3762002 2760 10756 0.256601 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - FUCA2 Ala233Glu A233E not reviewed Insufficiently evaluated not reviewed unknown Array rs11155297 2017 10758 0.187488 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.029 - - 3 - 0 N - - FUK Pro112Leu P112L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9884 0.000202347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FUK Val146Met V146M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10122 0.00316143 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 3 - 1 - - FUK Asn275Ser N275S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10056 0.0113365 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - FUK Ser962Arg S962R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10010 0.0006993 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FUK Glu968Lys E968K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - FURIN Arg268Cys R268C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.917 - - 8 Y 2 N - - FUT1 Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array rs2071699 159 10758 0.0147797 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - FUT10 Leu368Val L368V not reviewed Insufficiently evaluated not reviewed unknown Array rs17855838 1861 10758 0.172988 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.422 - - 0 - 0 N - - FUT10 Tyr268His Y268H not reviewed Insufficiently evaluated not reviewed unknown Array rs16880853 537 10758 0.0499163 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - FUT10 Leu59Phe L59F not reviewed Insufficiently evaluated not reviewed unknown Array rs16880994 391 10758 0.036345 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.401 - - 0 - 1 N - - FUT10 Val20Ile V20I not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - FUT2 Ile25Val I25V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800021 446 10758 0.0414575 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - FUT2 Ile140Phe I140F not reviewed Insufficiently evaluated not reviewed unknown Array rs1047781 10 10754 0.000929886 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.942 - - 2 - 2 N - - FUT2 Trp154Stop W154X protective Moderate clinical importance, protective recessive Array rs601338 5277 10758 0.490519 55 0 71 5 5 2 Y 2 Y 4 Y - - 2 Y 3 Y - - - Y - - - 10 Y 2 N 1 2 This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors. FUT2 Asp172Asn D172N not reviewed Insufficiently evaluated not reviewed unknown Array rs1800025 296 10756 0.0275195 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - FUT2 Arg202Stop R202X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - FUT2 Gly258Ser G258S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs602662 5472 10758 0.508645 38 0 48 0 0 1 Y - - - - - - - - - - - - Y Y 0.954 - - 2 - 3 N - - FUT3 Ile356Lys I356K not reviewed Insufficiently evaluated not reviewed unknown Array 613 10758 0.0569809 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 Y Y 6 Y 3 N - - FUT3 Arg327Gln R327Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 Y Y 0 - 3 - 7 - - FUT3 Thr325Met T325M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10756 0.00502045 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.67 Y Y 2 - 4 - 5 - - FUT3 Gly170Ser G170S not reviewed Insufficiently evaluated not reviewed unknown Array rs28362464 1041 10688 0.097399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 Y Y 2 - 3 N - - FUT3 Met105Thr M105T not reviewed Insufficiently evaluated not reviewed unknown Array rs778986 9020 10758 0.838446 53 0 94 0 0 1 Y - - - - - - - - - - - - - - - Y Y 2 - 2 N - - FUT3 Gln102Lys Q102K not reviewed Insufficiently evaluated not reviewed unknown Array rs59796499 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 4 - 4 - - FUT3 Arg68Trp R68W not reviewed Insufficiently evaluated not reviewed unknown Array rs812936 8917 10758 0.828872 54 0 96 0 0 2 Y - - - - - - - - - - - - - - - Y Y 7 Y 2 N - - FUT3 Leu20Arg L20R not reviewed Insufficiently evaluated not reviewed unknown Array rs28362459 1730 10756 0.16084 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.952 Y Y 6 Y 3 N - - FUT4 Gly173Trp G173W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FUT4 Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230273 798 10014 0.0796884 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FUT5 Thr338Met T338M not reviewed Insufficiently evaluated not reviewed unknown Array rs4807054 3503 10752 0.3258 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FUT5 His334Arg H334R not reviewed Insufficiently evaluated not reviewed unknown Array rs57100281 7573 10648 0.711213 33 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FUT5 Pro187Leu P187L not reviewed Insufficiently evaluated not reviewed unknown Array rs778970 4246 10550 0.402464 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FUT6 Arg303Gly R303G pathogenic Insufficiently evaluated pathogenic recessive Array rs61745631 797 10706 0.0744442 8 0 11 1 1 2 Y 2 Y - - 2 Y 1 Y 0 Y - - - - 0.725 - - 6 Y 1 - 5 - - As 9% of individuals on the island of Java (Indonesia) do not express this enzyme, deficiency of it is probably benign. This variant was implicited as causing alpha-1,3-fucosyltransferase deficiency in a recessive manner in two Indonesian families when in combination with P124S. FUT6 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array rs778805 4533 10758 0.421361 29 0 38 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 0 N - - FUT6 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 3 - 3 - - FUT7 Arg70Cys R70C not reviewed Insufficiently evaluated not reviewed unknown Array 71 10440 0.00680077 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 8 Y 2 N - - FUT8 His2Gln H2Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FUT8 Thr138Lys T138K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FUT8 Thr267Lys T267K not reviewed Insufficiently evaluated not reviewed unknown Array rs35949016 1279 10758 0.118888 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - FUT9 Thr237Ala T237A not reviewed Insufficiently evaluated not reviewed unknown Array rs3811069 9641 10758 0.89617 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FXC1 Ala66Ser A66S not reviewed Insufficiently evaluated not reviewed unknown Array rs60702727 80 10758 0.00743633 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.126 - - -1 - 0 N - - FXN Met76Val M76V not reviewed Insufficiently evaluated not reviewed unknown Array rs59907886 170 10758 0.0158022 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 3 - 1 - - FXN Asp209Gly D209G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.933 Y Y 4 Y 4 N - - FXR1 Gly213Stop G213X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FXR1 Gly298Stop G298X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FXYD2 Glu68Gly E68G not reviewed Insufficiently evaluated not reviewed unknown Array rs529623 1532 3234 0.473717 24 0 31 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - FXYD2 Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FXYD3 Lys3Arg K3R not reviewed Insufficiently evaluated not reviewed unknown Array rs62120434 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - FXYD3 Lys60Arg K60R not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - -3 - 2 N - - FXYD3 Pro36Arg P36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FXYD3 Leu39His L39H not reviewed Insufficiently evaluated not reviewed unknown Array rs1688016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FXYD3 Gly40Ser G40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 3 - 3 - - FXYD3 Gly97Ser G97S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - FXYD4 Cys63Tyr C63Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41307500 274 10758 0.0254694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - FXYD5 Ser35Ala S35A not reviewed Insufficiently evaluated not reviewed unknown Array rs1688005 2960 10758 0.275144 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - FXYD5 Arg176His R176H not reviewed Insufficiently evaluated not reviewed unknown Array rs12110 8988 10758 0.835471 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FYB Val672Phe V672F not reviewed Insufficiently evaluated not reviewed unknown Array rs379707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FYB Val718Phe V718F not reviewed Insufficiently evaluated not reviewed unknown Array rs379707 5301 9354 0.566709 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FYB Pro51Leu P51L not reviewed Insufficiently evaluated not reviewed unknown Array rs1642515 353 9768 0.0361384 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FYCO1 Thr1422Met T1422M not reviewed Insufficiently evaluated not reviewed unknown Array rs35678722 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 0 N - - FYCO1 Lys1108Glu K1108E not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - FYCO1 Glu1043Gly E1043G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 6 Y 1 N - - FYCO1 Glu994Lys E994K not reviewed Insufficiently evaluated not reviewed unknown Array rs34801630 636 10758 0.0591188 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 1 N - - FYCO1 Ala679Val A679V not reviewed Insufficiently evaluated not reviewed unknown Array rs3796375 3573 10756 0.332187 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - FYCO1 Arg447Cys R447C not reviewed Insufficiently evaluated not reviewed unknown Array rs33910087 885 10758 0.0822644 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 1 N - - FYCO1 Glu418Lys E418K not reviewed Insufficiently evaluated not reviewed unknown Array rs72889997 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - FYCO1 Gly321Ala G321A not reviewed Insufficiently evaluated not reviewed unknown Array rs3733100 4753 10758 0.441811 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FYCO1 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4683158 8980 10758 0.834728 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FYN Asp451Glu D451E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FYN Asp503Glu D503E not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FYN Asp506Glu D506E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - FYN Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FYN Asn397Ser N397S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FYN Asn400Ser N400S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - FYTTD1 Arg87His R87H not reviewed Insufficiently evaluated not reviewed unknown Array rs3205525 7698 10758 0.71556 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FZD1 Arg71Trp R71W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FZD4 Thr503Met T503M not reviewed Insufficiently evaluated not reviewed unknown Array rs73531344 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.872 Y Y 2 - 4 N - - FZD5 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array rs35994626 604 10758 0.0561443 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - FZD6 Met33Val M33V not reviewed Insufficiently evaluated not reviewed unknown Array rs827528 2659 10758 0.247165 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FZD6 Gln152Glu Q152E not reviewed Insufficiently evaluated not reviewed unknown Array rs61753730 242 10758 0.0224949 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FZD6 Met345Leu M345L not reviewed Insufficiently evaluated not reviewed unknown Array rs3808553 4408 10758 0.409742 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - G0S2 Ile8Asn I8N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 3 - 1 - - G6PC2 Tyr207Ser Y207S not reviewed Insufficiently evaluated not reviewed unknown Array rs2232323 63 10758 0.00585611 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - G6PC2 Val219Leu V219L not reviewed Insufficiently evaluated not reviewed unknown Array rs492594 4419 10758 0.410764 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - G6PC2 Ser324Pro S324P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 3 - 4 - - G6PC2 Ser342Cys S342C not reviewed Insufficiently evaluated not reviewed unknown Array rs2232328 2487 10758 0.231177 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - G6PC3 Thr216Ile T216I not reviewed Insufficiently evaluated not reviewed unknown Array rs34406052 165 10758 0.0153374 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - G6PD Asn126Asp N126D benign Low clinical importance, Uncertain benign recessive Array 0 0 0 4 0 1 Y 1 Y - - 5 Y - - - - Y Y - Y - Y - -1 - 4 N 9 0 0 This amino acid variant is found in two different G6PD gene variants found in Africans and is associated with G6PD deficiency. The wild-type version of this gene is called "A" and this variant, alone, produces the "A+" version of the gene. This variant is benign, but is often found in combination with Val68Met, producing the "A-" version of this gene that is associated with X-linked enzyme deficiency. G6PD Asn156Asp N156D not reviewed Insufficiently evaluated not reviewed unknown Array rs1050829 1002 8761 0.114371 14 0 20 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - GAA Ala150Gly A150G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 3 - - GAA His199Arg H199R not reviewed Insufficiently evaluated not reviewed unknown Array rs1042393 7238 10758 0.672802 46 0 63 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - GAA Arg223His R223H not reviewed Insufficiently evaluated not reviewed unknown Array rs1042395 7237 10756 0.672834 44 0 61 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - GAA Gly576Ser G576S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800307 10 10758 0.00092954 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - GAA Glu689Lys E689K benign Low clinical importance, Uncertain benign other Array rs1800309 324 10734 0.0301845 6 0 6 1 1 1 Y 1 Y 3 Y 0 - - - - - Y Y - - - Y Y 0 - 5 N 9 0 0 This is also known as the GAA*4 allozyme is frequent in the Asian population and appears to have somewhat reduced enzyme activity. Kroos et al. rule out pathogenic effect. GAA Val780Ile V780I not reviewed Insufficiently evaluated not reviewed unknown Array rs1126690 7871 10756 0.731778 50 0 71 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 2 - - GAA Val816Ile V816I not reviewed Insufficiently evaluated not reviewed unknown Array rs1800314 570 10750 0.0530233 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 3 - - GAA Thr927Ile T927I not reviewed Insufficiently evaluated not reviewed unknown Array rs1800315 489 10758 0.0454545 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 3 - - GAB2 Arg376His R376H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAB2 Arg414His R414H not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAB4 Glu414Asp E414D not reviewed Insufficiently evaluated not reviewed unknown Array rs61740195 181 10220 0.0177104 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.535 - - -2 - 2 - 1 - - GAB4 Ala281Thr A281T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741409 445 10712 0.0415422 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAB4 Ser272Gly S272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 2 - 1 N - - GAB4 Gly163Stop G163X not reviewed Insufficiently evaluated not reviewed unknown Array rs28502153 3545 10530 0.336657 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - GABBR1 Ala20Val A20V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805056 433 10308 0.0420062 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GABBR2 Thr869Ala T869A not reviewed Insufficiently evaluated not reviewed unknown Array rs10985765 2629 10758 0.244376 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GABPB2 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array rs11204774 1122 10758 0.104294 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.347 - - -4 - 0 N - - GABPB2 Gly314Arg G314R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621412 788 10758 0.0732478 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 0 N - - GABPB2 Lys315Gln K315Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59454556 1705 10758 0.158487 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GABPB2 Gly419Arg G419R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GABRA1 Pro360His P360H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - 5 Y 2 - 1 - - GABRA4 Leu26Met L26M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229940 3574 10758 0.332218 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GABRA5 Ile455Lys I455K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.78 - - 6 Y 1 N - - GABRA6 Val347Ala V347A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GABRA6 Pro404Ser P404S not reviewed Insufficiently evaluated not reviewed unknown Array rs34907804 996 10758 0.0925823 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - GABRD Asn65Thr N65T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.961 Y - 1 - 3 N - - GABRE Glu435Asp E435D not reviewed Insufficiently evaluated not reviewed unknown Array rs61730042 45 8761 0.0051364 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - -2 - 1 N - - GABRE His372Tyr H372Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61740516 79 8761 0.00901723 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - GABRE Ser102Ala S102A not reviewed Insufficiently evaluated not reviewed unknown Array rs1139916 5357 8761 0.61146 38 0 71 0 0 - - - - - - - - - - - - - - - - 0.902 - - -1 - 1 N - - GABRE Arg34Cys R34C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730038 131 8761 0.0149526 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.15 - - 8 Y 0 N - - GABRG2 Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array rs211035 4 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GABRG2 Gly235Cys G235C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - GABRP Phe391Leu F391L not reviewed Insufficiently evaluated not reviewed unknown Array rs1063310 2819 10758 0.262038 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - GABRQ Phe478Ile F478I not reviewed Insufficiently evaluated not reviewed unknown Array rs3810651 4234 8706 0.486331 25 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GABRR1 His27Arg H27R not reviewed Insufficiently evaluated not reviewed unknown Array 2297 10758 0.213516 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 1 N - - GABRR1 Met26Val M26V not reviewed Insufficiently evaluated not reviewed unknown Array rs12200969 4200 10758 0.390407 3 0 5 1 1 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GABRR2 Thr455Met T455M not reviewed Insufficiently evaluated not reviewed unknown Array rs282129 3543 10758 0.329336 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GABRR2 Phe308Leu F308L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAD1 Glu488Stop E488X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GAD1 Arg532Gln R532Q not reviewed Insufficiently evaluated not reviewed unknown Array rs769402 697 10758 0.064789 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GAD2 Pro153Gln P153Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.416 - - 4 Y 2 - 10 - - GAD2 Val219Asp V219D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - 8 Y 0 N - - GAD2 Pro346Ser P346S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 3 - 2 N - - GADD45G Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GADD45GIP1 Ala19Val A19V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 2 - 0 N - - GADD45GIP1 Ser10Arg S10R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.274 - - 3 - 1 N - - GADL1 Ser358Cys S358C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - GAGE12J Arg13Ser R13S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - GAGE12J Pro16Arg P16R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GAGE12J Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAK Asp1297Asn D1297N not reviewed Insufficiently evaluated not reviewed unknown Array rs1134921 988 10756 0.0918557 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 1 N - - GAK Ala1279Asp A1279D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - GAK Lys1265Arg K1265R not reviewed Insufficiently evaluated not reviewed unknown Array rs2306242 312 10752 0.0290179 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 0 N - - GAK Ser1168Asn S1168N not reviewed Insufficiently evaluated not reviewed unknown Array rs56326341 26 10716 0.00242628 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 1 - 2 - - GAL Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array rs36058701 79 10758 0.00734337 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.964 - - 7 Y 3 - 3 - - GAL3ST1 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.904 - - 7 Y 3 - 1 - - GAL3ST1 Val29Met V29M not reviewed Insufficiently evaluated not reviewed unknown Array rs2267161 3630 10758 0.337423 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GAL3ST2 Met4Leu M4L not reviewed Insufficiently evaluated not reviewed unknown Array rs12469459 3914 10756 0.36389 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GAL3ST2 Pro143Leu P143L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GAL3ST2 Ala164Val A164V not reviewed Insufficiently evaluated not reviewed unknown Array rs62620233 1271 10744 0.118299 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GAL3ST2 Gly325Ser G325S not reviewed Insufficiently evaluated not reviewed unknown Array 460 10254 0.0448605 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GAL3ST3 Glu410Ala E410A not reviewed Insufficiently evaluated not reviewed unknown Array rs4565902 773 9142 0.0845548 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - GAL3ST3 Ser31Gly S31G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - GAL3ST3 Val30Leu V30L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GAL3ST4 Ala467Val A467V not reviewed Insufficiently evaluated not reviewed unknown Array rs3823646 5444 10758 0.506042 40 0 53 0 0 - - - - - - - - - - - - - - - - 0.52 - - 2 - 0 N - - GAL3ST4 Arg353Gln R353Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 5 - - GAL3ST4 Ala350Val A350V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - GALC Thr641Ala T641A not reviewed Insufficiently evaluated not reviewed unknown Array rs421262 9334 9728 0.959498 55 0 103 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - GALC Ile562Thr I562T not reviewed Insufficiently evaluated not reviewed unknown Array rs398607 5002 9542 0.524209 39 0 54 0 0 - - - - - - - - - - - - Y - - - 0.167 Y Y 3 - 2 N - - GALC Ile305Val I305V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9646 0.000518349 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -4 - 4 N - - GALC Asp248Asn D248N not reviewed Insufficiently evaluated not reviewed unknown Array rs34362748 1138 9854 0.115486 9 0 8 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y -1 - 3 N - - GALC Arg79Cys R79C not reviewed Insufficiently evaluated not reviewed unknown Array rs73312829 8 9424 0.000848896 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - GALC Pro75Gln P75Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.091 Y Y 4 Y 3 - 1 - - GALK2 Cys290Stop C290X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GALK2 Cys301Stop C301X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GALK2 Cys292Ser C292S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GALK2 Cys303Ser C303S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - GALM Asn190Tyr N190Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6741892 1430 10756 0.132949 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GALNS Thr509Arg T509R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 3 - 1 N - - GALNS Thr509Ala T509A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - 1 - 1 N - - GALNS Val488Met V488M benign Insufficiently evaluated benign recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 6 - - Mucopolysaccharidosis Type IVA GALNS Ala393Ser A393S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303269 509 10756 0.0473224 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.03 Y - -1 - 2 - 1 - - GALNS Ala231Gly A231G not reviewed Insufficiently evaluated not reviewed unknown Array rs34745339 571 10758 0.0530768 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.292 Y - 1 - 1 N - - GALNS Thr200Met T200M not reviewed Insufficiently evaluated not reviewed unknown Array rs7187889 566 10756 0.0526218 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.034 Y - 2 - 1 N - - GALNS Leu67Met L67M not reviewed Insufficiently evaluated not reviewed unknown Array rs11862754 1208 10750 0.112372 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 1 - - GALNT1 Pro54Leu P54L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - GALNT11 Arg105His R105H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNT11 Asp197Tyr D197Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3778922 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 7 Y 1 - 7 - - GALNT11 Glu409Gly E409G not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 1 - 1 - - GALNT12 Glu119Val E119V not reviewed Insufficiently evaluated not reviewed unknown Array rs10987769 576 10472 0.0550038 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.881 - - 5 Y 1 N - - GALNT12 Pro240Leu P240L not reviewed Insufficiently evaluated not reviewed unknown Array rs59362219 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GALNT13 Glu59Asp E59D not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.228 - - -2 - 2 - 3 - - GALNT14 Gln469Lys Q469K not reviewed Insufficiently evaluated not reviewed unknown Array rs2288101 2282 10758 0.212121 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.919 - - -2 - 1 N - - GALNT14 Leu245Phe L245F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.749 - - 0 - 1 N - - GALNT14 Ala187Thr A187T not reviewed Insufficiently evaluated not reviewed unknown Array rs73923311 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - GALNT2 Val133Gly V133G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - GALNT2 Asp134Gly D134G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GALNT2 Val554Met V554M not reviewed Insufficiently evaluated not reviewed unknown Array rs2273970 448 10758 0.0416434 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GALNT3 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GALNT4 Val506Ile V506I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230283 2794 9580 0.291649 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.477 - - -4 - 0 N - - GALNT4 Ile270Thr I270T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230281 7149 9718 0.735645 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GALNT4 Ser234Tyr S234Y not reviewed Insufficiently evaluated not reviewed unknown Array rs57849129 91 9842 0.00924609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GALNT5 Pro77Leu P77L not reviewed Insufficiently evaluated not reviewed unknown Array rs3739112 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 7 Y 2 - 7 - - GALNT5 Thr179Ser T179S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748237 1131 10758 0.105131 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 1 - 1 - - GALNT5 Gln489His Q489H not reviewed Insufficiently evaluated not reviewed unknown Array rs6759356 1751 10758 0.162763 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 1 N - - GALNT5 Asp678Ala D678A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748238 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - GALNT6 Ser526Pro S526P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GALNT6 Trp391Arg W391R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GALNT7 Pro50Leu P50L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 7 Y 2 N - - GALNT7 Val189Ile V189I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GALNT8 Tyr53Asp Y53D not reviewed Insufficiently evaluated not reviewed unknown Array rs10849133 4398 10758 0.408812 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GALNT8 Phe312Ser F312S not reviewed Insufficiently evaluated not reviewed unknown Array rs34829532 109 10758 0.010132 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.026 - - 5 Y 1 - 2 - - GALNT8 Val515Phe V515F not reviewed Insufficiently evaluated not reviewed unknown Array rs1468556 4017 10758 0.373397 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.131 - - 3 - 0 N - - GALNT8 Ile581Val I581V not reviewed Insufficiently evaluated not reviewed unknown Array rs73264342 112 10758 0.0104109 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.413 - - -4 - 1 N - - GALNT8 Val611Met V611M not reviewed Insufficiently evaluated not reviewed unknown Array rs34114277 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - GALNTL1 Val201Met V201M not reviewed Insufficiently evaluated not reviewed unknown Array rs12879377 3112 10758 0.289273 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GALNTL1 Val338Ile V338I not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GALNTL1 Pro497Ser P497S not reviewed Insufficiently evaluated not reviewed unknown Array rs59840366 716 10758 0.0665551 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GALNTL2 Val68Gly V68G not reviewed Insufficiently evaluated not reviewed unknown Array rs36026882 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.76 - - 8 Y 2 - 3 - - GALNTL2 Ala432Thr A432T not reviewed Insufficiently evaluated not reviewed unknown Array rs17851238 1883 10758 0.175033 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - GALNTL2 His510Tyr H510Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2271077 895 10758 0.0831939 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.148 - - -1 - 0 N - - GALNTL5 His94Arg H94R not reviewed Insufficiently evaluated not reviewed unknown Array rs35868297 242 10750 0.0225116 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - GALNTL5 Cys124Arg C124R not reviewed Insufficiently evaluated not reviewed unknown Array rs6960270 8825 10758 0.82032 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GALNTL5 Thr158Met T158M not reviewed Insufficiently evaluated not reviewed unknown Array rs35682935 1088 10758 0.101134 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GALNTL5 Glu183Gly E183G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729490 1974 10758 0.183491 25 0 25 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - GALP Ile72Met I72M not reviewed Insufficiently evaluated not reviewed unknown Array rs3745833 3790 10758 0.352296 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.645 - - -1 - 0 N - - GALR1 Ile265Phe I265F not reviewed Insufficiently evaluated not reviewed unknown Array 328 10758 0.0304889 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GALR1 Ser334Asn S334N not reviewed Insufficiently evaluated not reviewed unknown Array rs5376 9635 10756 0.895779 49 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GALR2 Gly226Ser G226S not reviewed Insufficiently evaluated not reviewed unknown Array 72 10702 0.00672771 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GALR2 Glu336Ala E336A not reviewed Insufficiently evaluated not reviewed unknown Array 93 10594 0.00877855 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - GALR3 Pro53Ala P53A not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 1 N - - GALR3 Ala364Val A364V not reviewed Insufficiently evaluated not reviewed unknown Array 248 7564 0.0327869 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - GAMT Thr209Met T209M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 9 - - GAMT Gly61Glu G61E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - GANAB Met594Val M594V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GANAB Met616Val M616V not reviewed Insufficiently evaluated not reviewed unknown Array 317 10758 0.0294664 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GANC Leu11Val L11V not reviewed Insufficiently evaluated not reviewed unknown Array rs8043515 10528 10758 0.978621 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GANC Gln44Arg Q44R not reviewed Insufficiently evaluated not reviewed unknown Array rs8024732 7704 10758 0.716118 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GANC Glu88Lys E88K not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - GANC Asp443Glu D443E not reviewed Insufficiently evaluated not reviewed unknown Array rs2578652 707 10758 0.0657185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GANC Ile769Asn I769N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GANC Phe845Ser F845S not reviewed Insufficiently evaluated not reviewed unknown Array rs7181742 3289 10758 0.305726 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GANC Gln848Arg Q848R not reviewed Insufficiently evaluated not reviewed unknown Array rs7180279 1049 10758 0.0975088 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GAPDH Ala161Ser A161S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GARNL1 Pro1758Leu P1758L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GARNL1 Ser1633Ala S1633A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GARNL1 Glu955Asp E955D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GARNL1 Thr931Ala T931A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GARNL1 Ser853Leu S853L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GARNL1 Val710Ala V710A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GARNL1 Met429Val M429V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GARNL4 Leu187Met L187M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GARNL4 Leu202Met L202M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GARS Pro4Leu P4L not reviewed Insufficiently evaluated not reviewed unknown Array 96 10072 0.00953137 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 9 - - GARS Pro42Ala P42A not reviewed Insufficiently evaluated not reviewed unknown Array rs1049402 7182 9656 0.743786 41 0 61 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 10 - - GARS Val263Ile V263I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y -4 - 2 N - - GART Asp752Gly D752G not reviewed Insufficiently evaluated not reviewed unknown Array rs8971 1896 10758 0.176241 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.022 - - 4 Y 0 N - - GART Ala632Val A632V not reviewed Insufficiently evaluated not reviewed unknown Array rs59920090 287 10758 0.0266778 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 1 - 2 - - GART Val421Ile V421I not reviewed Insufficiently evaluated not reviewed unknown Array rs8788 8735 10758 0.811954 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GART Ala161Gly A161G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 3 - 2 - - GAS2 Pro87Ala P87A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737410 226 10758 0.0210076 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GAS2L1 Arg317Gly R317G not reviewed Insufficiently evaluated not reviewed unknown Array rs61737776 140 10758 0.0130136 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS2L1 His505Leu H505L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS2L2 Arg829Trp R829W not reviewed Insufficiently evaluated not reviewed unknown Array rs56386706 425 10758 0.0395055 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.635 - - 7 Y 1 N - - GAS2L2 Arg817Gly R817G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - GAS2L2 Pro769Ser P769S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - GAS2L2 Ala654Val A654V not reviewed Insufficiently evaluated not reviewed unknown Array rs3744374 2915 10758 0.270961 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GAS2L2 Ala540Thr A540T not reviewed Insufficiently evaluated not reviewed unknown Array rs12602590 711 10758 0.0660904 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.289 - - 1 - 0 N - - GAS2L2 Ala164Val A164V not reviewed Insufficiently evaluated not reviewed unknown Array rs11654604 1432 10756 0.133135 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - GAS2L2 Val71Phe V71F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - GAS2L3 Asn410His N410H not reviewed Insufficiently evaluated not reviewed unknown Array rs57012630 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GAS6 Arg246His R246H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10678 0.00103015 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - GAS6 Val15Met V15M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Val288Met V288M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10742 9.3092e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Gly201Arg G201R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - GAS6 Gly227Arg G227R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - GAS6 Gly500Arg G500R not reviewed Insufficiently evaluated not reviewed unknown Array rs7992146 133 10756 0.0123652 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - GAS6 Glu313Lys E313K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Glu339Lys E339K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Glu612Lys E612K not reviewed Insufficiently evaluated not reviewed unknown Array rs73583241 170 10506 0.0161812 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Val374Leu V374L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Val400Leu V400L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Val673Leu V673L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAS6 Val374Ala V374A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GAS6 Val400Ala V400A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GAS6 Val673Ala V673A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GAS7 Glu274Gly E274G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS7 Glu350Gly E350G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS7 Glu354Gly E354G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS7 Glu414Gly E414G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS8 Arg259Gln R259Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17178299 469 10756 0.0436036 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.322 - - 0 - 1 N - - GAS8 Gly274Glu G274E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAST Arg3Pro R3P not reviewed Insufficiently evaluated not reviewed unknown Array rs34309618 431 10758 0.0400632 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 Y - 5 Y 3 N - - GATA1 Asn160Ser N160S not reviewed Insufficiently evaluated not reviewed unknown Array rs59609788 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GATA2 Pro250Ala P250A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GATA2 Ala164Thr A164T not reviewed Insufficiently evaluated not reviewed unknown Array rs2335052 1749 10756 0.162607 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GATA3 Ala395Thr A395T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GATA3 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GATA4 Ser377Gly S377G not reviewed Insufficiently evaluated not reviewed unknown Array rs3729856 1086 10758 0.100948 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 6 - - GATA5 Thr67Pro T67P not reviewed Insufficiently evaluated not reviewed unknown Array rs6142775 379 4600 0.0823913 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.255 - - 4 Y 0 N - - GATAD1 Gly54Ser G54S not reviewed Insufficiently evaluated not reviewed unknown Array 387 4526 0.085506 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 3 - - GATAD1 Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array rs34768413 113 10758 0.0105038 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GATC Ser3Leu S3L not reviewed Insufficiently evaluated not reviewed unknown Array rs17431446 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - GATM Gln110His Q110H not reviewed Insufficiently evaluated not reviewed unknown Array rs1288775 4766 10758 0.443019 46 0 72 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - GBA Asp482Asn D482N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GBA Glu365Lys E365K not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - GBA2 Ala453Glu A453E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GBA2 Gly316Arg G316R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.238 - - 6 Y 1 N - - GBA3 Met172Ile M172I not reviewed Insufficiently evaluated not reviewed unknown Array rs36090352 320 9788 0.0326931 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - GBA3 Cys354Arg C354R not reviewed Insufficiently evaluated not reviewed unknown Array rs16873108 316 9528 0.0331654 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GBE1 Thr507Ala T507A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228389 535 9926 0.0538989 12 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 3 - - GBE1 Ile334Val I334V not reviewed Insufficiently evaluated not reviewed unknown Array rs2172397 9284 9470 0.980359 54 0 107 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 2 - - GBE1 Arg190Gly R190G not reviewed Insufficiently evaluated not reviewed unknown Array rs2229519 2750 9410 0.292242 29 0 30 0 0 2 Y - - - - - - - - - - Y - - - 0.025 Y Y 6 Y 3 - 5 - - GBE1 Met5Ile M5I not reviewed Insufficiently evaluated not reviewed unknown Array 10 9762 0.00102438 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 10 - - GBGT1 Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GBGT1 Leu20Phe L20F not reviewed Insufficiently evaluated not reviewed unknown Array rs2073924 35 128 0.273438 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.5 - - 0 - 0 N - - GBP1 Ala409Gly A409G not reviewed Insufficiently evaluated not reviewed unknown Array rs1048443 4046 10752 0.376302 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GBP1 Thr349Ser T349S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048425 8546 10758 0.794386 35 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GBP1 Ser213Asn S213N not reviewed Insufficiently evaluated not reviewed unknown Array 201 10756 0.0186872 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - GBP1 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array rs1048401 313 10758 0.0290946 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GBP2 Ser303Gly S303G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230338 6566 10758 0.610336 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GBP2 Pro285Ala P285A not reviewed Insufficiently evaluated not reviewed unknown Array rs1803632 6567 10758 0.610429 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GBP3 Val558Ala V558A not reviewed Insufficiently evaluated not reviewed unknown Array rs11808228 240 10758 0.022309 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - GBP3 Cys491Arg C491R not reviewed Insufficiently evaluated not reviewed unknown Array rs17433780 3208 10758 0.298197 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GBP3 Val469Met V469M not reviewed Insufficiently evaluated not reviewed unknown Array rs10493821 2574 10758 0.239264 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GBP3 Gln454Stop Q454X not reviewed Insufficiently evaluated not reviewed unknown Array rs12087251 56 10174 0.00550423 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - GBP3 Arg290Cys R290C not reviewed Insufficiently evaluated not reviewed unknown Array rs113490655 1506 10758 0.139989 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GBP3 Arg225Trp R225W not reviewed Insufficiently evaluated not reviewed unknown Array rs4656077 4106 10756 0.38174 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GBP3 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4656078 4097 10754 0.380975 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GBP3 Met139Thr M139T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GBP4 Glu551Gly E551G not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 6 Y 1 - 4 - - GBP4 Glu551Lys E551K not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - GBP4 Leu549Met L549M not reviewed Insufficiently evaluated not reviewed unknown Array rs608339 3787 10752 0.352214 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - GBP4 Met542Ile M542I not reviewed Insufficiently evaluated not reviewed unknown Array rs1142886 2537 10758 0.235824 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 1 - 3 - - GBP4 Tyr541Asn Y541N not reviewed Insufficiently evaluated not reviewed unknown Array rs655260 2546 10758 0.236661 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - GBP4 Ile379Val I379V not reviewed Insufficiently evaluated not reviewed unknown Array rs1831240 860 10758 0.0799405 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - GBP4 Asp118His D118H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - GBP6 Val163Ala V163A not reviewed Insufficiently evaluated not reviewed unknown Array rs35837853 319 10758 0.0296524 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - GBP6 Thr278Ile T278I not reviewed Insufficiently evaluated not reviewed unknown Array rs4582772 835 10758 0.0776167 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - GBP6 Ala331Ser A331S not reviewed Insufficiently evaluated not reviewed unknown Array rs4658359 8469 10758 0.787228 47 0 77 0 0 - - - - - - - - - - - - - - - - 0.19 - - -1 - 0 N - - GBP6 Leu344Phe L344F not reviewed Insufficiently evaluated not reviewed unknown Array rs4658360 8470 10758 0.787321 36 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GBP6 Met355Val M355V not reviewed Insufficiently evaluated not reviewed unknown Array rs4658146 8469 10758 0.787228 33 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GBP6 Asp520Val D520V not reviewed Insufficiently evaluated not reviewed unknown Array rs959460 9626 10758 0.894776 51 0 90 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - GBP6 Ala573Thr A573T not reviewed Insufficiently evaluated not reviewed unknown Array 238 10758 0.0221231 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - GBP6 Met581Val M581V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GBP7 Met368Ile M368I not reviewed Insufficiently evaluated not reviewed unknown Array rs74098339 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - GBP7 Gln231Arg Q231R not reviewed Insufficiently evaluated not reviewed unknown Array rs56686060 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GBP7 Pro86His P86H not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.962 - - 5 Y 3 - 1 - - GBP7 Val39Leu V39L not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - GBP7 Thr14Ile T14I not reviewed Insufficiently evaluated not reviewed unknown Array rs676913 7587 10758 0.705243 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GC His445Arg H445R not reviewed Insufficiently evaluated not reviewed unknown Array rs9016 10688 10758 0.993493 42 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GC Thr436Lys T436K not reviewed Insufficiently evaluated not reviewed unknown Array rs4588 2433 10758 0.226157 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GC Asp432Glu D432E not reviewed Insufficiently evaluated not reviewed unknown Array rs7041 4587 10758 0.42638 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GCA Ser80Ala S80A not reviewed Insufficiently evaluated not reviewed unknown Array rs17783344 1137 10758 0.105689 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 0 N - - GCAT Arg19Cys R19C not reviewed Insufficiently evaluated not reviewed unknown Array 70 10402 0.00672948 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.696 - - 8 Y 1 N - - GCAT Arg39Cys R39C not reviewed Insufficiently evaluated not reviewed unknown Array rs710187 6098 10718 0.568949 47 0 67 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 1 N - - GCAT Arg357Trp R357W not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GCC1 Glu693Gly E693G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - GCC1 Arg618Cys R618C not reviewed Insufficiently evaluated not reviewed unknown Array rs34883586 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.906 - - 8 Y 3 - 2 - - GCC1 His563Tyr H563Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - GCC1 Asn430Ser N430S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - GCC1 Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array rs35322201 228 10758 0.0211935 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - GCC2 Pro62Arg P62R not reviewed Insufficiently evaluated not reviewed unknown Array rs73954346 218 10758 0.020264 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GCC2 Ser836Phe S836F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - GCC2 Ser937Phe S937F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GCC2 Gln1033Glu Q1033E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GCC2 Gln1134Glu Q1134E not reviewed Insufficiently evaluated not reviewed unknown Array rs2718698 10650 10758 0.989961 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GCDH Gln417Arg Q417R not reviewed Insufficiently evaluated not reviewed unknown Array rs8012 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - GCKR Gln190Pro Q190P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - GCKR Leu446Pro L446P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1260326 7302 10758 0.678751 52 0 78 2 2 3 Y - - - - - - - - - - - - Y Y - - - 7 Y 2 N - - GCKR Arg540Gln R540Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 5 - - GCM2 Gly203Ser G203S not reviewed Insufficiently evaluated not reviewed unknown Array rs7744163 346 10758 0.0321621 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.358 Y - 2 - 3 - 4 - - GCN1L1 Tyr2155Asp Y2155D not reviewed Insufficiently evaluated not reviewed unknown Array rs3864938 10459 10480 0.997996 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GCN1L1 Pro1032Leu P1032L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GCN1L1 Ala633Val A633V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GCNT1 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCNT1 Ile152Val I152V not reviewed Insufficiently evaluated not reviewed unknown Array rs2282683 2337 10758 0.217234 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GCNT2 His236Arg H236R not reviewed Insufficiently evaluated not reviewed unknown Array rs594495 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GCNT2 Asp272Glu D272E not reviewed Insufficiently evaluated not reviewed unknown Array rs539351 10748 10758 0.99907 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GCNT3 His260Gln H260Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62014427 117 10758 0.0108756 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.818 - - -1 - 1 N - - GCNT3 Ile373Met I373M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GCNT4 Pro439Ser P439S not reviewed Insufficiently evaluated not reviewed unknown Array rs3811987 4379 10758 0.407046 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GCNT4 Val321Ile V321I not reviewed Insufficiently evaluated not reviewed unknown Array rs4704166 3730 10758 0.346719 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - GCNT7 Asn425His N425H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCNT7 Asp352Glu D352E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GCNT7 Gly61Glu G61E not reviewed Insufficiently evaluated not reviewed unknown Array 24 3234 0.00742115 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GCOM1 Ala277Val A277V not reviewed Insufficiently evaluated not reviewed unknown Array rs16977629 1082 10758 0.100576 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GCSH Arg42Leu R42L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - GCSH Ser21Leu S21L not reviewed Insufficiently evaluated not reviewed unknown Array rs8052579 3314 4412 0.751133 5 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - GDAP1L1 Glu199Lys E199K not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - 0 - 1 N - - GDE1 Glu328Lys E328K not reviewed Insufficiently evaluated not reviewed unknown Array rs34137361 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 3 - - GDF1 Ala118Val A118V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.698 - - 2 - 2 - 3 - - GDF15 Val9Leu V9L not reviewed Insufficiently evaluated not reviewed unknown Array rs1059519 7587 10758 0.705243 53 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GDF15 Ser48Thr S48T not reviewed Insufficiently evaluated not reviewed unknown Array rs1059369 2357 10758 0.219093 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GDF15 His202Asp H202D not reviewed Insufficiently evaluated not reviewed unknown Array rs1058587 2023 10404 0.194444 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GDF3 Gly213Arg G213R not reviewed Insufficiently evaluated not reviewed unknown Array rs12819884 2828 10758 0.262874 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GDF5 Ser276Ala S276A not reviewed Insufficiently evaluated not reviewed unknown Array rs224331 3806 10588 0.359464 26 0 30 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 5 - - GDF5 Pro166His P166H not reviewed Insufficiently evaluated not reviewed unknown Array rs61754581 366 10758 0.0340212 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.969 Y - 5 Y 3 N - - GDF7 Ala286Thr A286T not reviewed Insufficiently evaluated not reviewed unknown Array 89 7554 0.0117818 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - GDF7 Ala330Ser A330S not reviewed Insufficiently evaluated not reviewed unknown Array 170 5110 0.0332681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - GDPD3 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 1 N - - GDPD4 Ile390Val I390V not reviewed Insufficiently evaluated not reviewed unknown Array rs11237145 2955 10758 0.274679 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GDPD4 His383Tyr H383Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11237146 2763 10758 0.256832 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.983 - - -1 - 1 N - - GDPD4 Lys220Arg K220R not reviewed Insufficiently evaluated not reviewed unknown Array rs2729772 1669 10758 0.15514 22 0 31 0 0 - - - - - - - - - - - - - - - - 0.129 - - -3 - 0 N - - GDPD5 Ala480Thr A480T not reviewed Insufficiently evaluated not reviewed unknown Array rs571353 7031 10754 0.653803 52 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GEFT Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GEFT Arg2Gln R2Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEFT Leu278Arg L278R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GEFT Leu317Arg L317R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GEFT Gln506Arg Q506R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEFT Gln545Arg Q545R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEM Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 1 - 10 - - GEM Arg43Gly R43G not reviewed Insufficiently evaluated not reviewed unknown Array rs2170363 1367 10758 0.127068 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - GEMIN4 Arg1033Cys R1033C not reviewed Insufficiently evaluated not reviewed unknown Array rs7813 6540 10004 0.653738 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GEMIN4 Asp929Asn D929N not reviewed Insufficiently evaluated not reviewed unknown Array rs2740349 8534 9832 0.867982 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GEMIN4 Ile739Thr I739T not reviewed Insufficiently evaluated not reviewed unknown Array rs1062923 1245 9946 0.125176 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GEMIN4 Arg684Gln R684Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3744741 1822 9964 0.182858 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GEMIN4 Glu593Val E593V not reviewed Insufficiently evaluated not reviewed unknown Array rs4968104 1991 10016 0.198782 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GEMIN4 Ala579Gly A579G not reviewed Insufficiently evaluated not reviewed unknown Array rs910925 6597 10106 0.652781 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GEMIN4 Gln450Glu Q450E not reviewed Insufficiently evaluated not reviewed unknown Array rs2740348 8660 9966 0.868954 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GEMIN5 Pro1155Ser P1155S not reviewed Insufficiently evaluated not reviewed unknown Array rs6865950 1144 10758 0.106339 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GEMIN5 Arg682Gln R682Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1974777 9003 10758 0.836866 53 0 87 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - GEMIN6 Gly140Asp G140D not reviewed Insufficiently evaluated not reviewed unknown Array rs1056104 611 10758 0.0567949 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.724 - - 4 Y 0 N - - GEMIN8 Glu195Val E195V not reviewed Insufficiently evaluated not reviewed unknown Array rs3747421 14 8761 0.00159799 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.561 - - 5 Y 1 N - - GEN1 Ser92Thr S92T not reviewed Insufficiently evaluated not reviewed unknown Array rs1812152 7256 10758 0.674475 48 0 82 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GEN1 Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array rs16981869 1560 10758 0.145008 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GEN1 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array rs10177628 419 10758 0.0389478 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GEN1 Arg302His R302H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GEN1 Ser310Asn S310N not reviewed Insufficiently evaluated not reviewed unknown Array rs300175 10586 10758 0.984012 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GEN1 Thr680Ile T680I not reviewed Insufficiently evaluated not reviewed unknown Array rs300169 6674 10754 0.620606 43 0 74 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GEN1 Ser873Arg S873R not reviewed Insufficiently evaluated not reviewed unknown Array rs57936182 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GEN1 Lys882Glu K882E not reviewed Insufficiently evaluated not reviewed unknown Array 197 10756 0.0183154 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GFAP Thr426Met T426M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GFAP Thr426Ala T426A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - GFAP Asp295Asn D295N benign Low clinical importance, Uncertain benign unknown Array rs1126642 359 10756 0.0333767 5 0 5 1 1 ! Y - - 4 Y - - - - - - Y - - - 0.942 Y Y -1 - 5 - 7 0 0 Reported as a nonpathogenic polymorphism. GFER Phe166Leu F166L not reviewed Insufficiently evaluated not reviewed unknown Array rs36041021 699 10756 0.064987 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GFI1B Thr247Pro T247P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GFI1B Thr293Pro T293P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 3 - 1 - - GFM1 Asn159Ser N159S not reviewed Insufficiently evaluated not reviewed unknown Array rs34297061 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 0 - 1 N - - GFM1 Val215Ile V215I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303909 6467 10758 0.601134 42 0 59 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -4 - 1 N - - GFM1 Val664Ile V664I not reviewed Insufficiently evaluated not reviewed unknown Array rs62288347 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.384 Y - -4 - 2 N - - GFM2 Arg727Gln R727Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GFM2 Arg774Gln R774Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1048167 1730 10758 0.160811 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GFM2 Arg697Gly R697G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GFM2 Arg744Gly R744G not reviewed Insufficiently evaluated not reviewed unknown Array rs35080306 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - GFM2 Phe562Tyr F562Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GFM2 Phe609Tyr F609Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10650 0.000469483 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -4 - 0 N - - GFM2 Phe562Ile F562I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GFM2 Phe609Ile F609I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.228 - - 2 - 1 N - - GFM2 Ser300Cys S300C not reviewed Insufficiently evaluated not reviewed unknown Array rs16872235 1553 10714 0.144951 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 0 N - - GFM2 Leu220Phe L220F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - GFM2 Asn64Ser N64S not reviewed Insufficiently evaluated not reviewed unknown Array rs957680 2059 10758 0.191392 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GFM2 His60Asn H60N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - GFM2 Ile15Val I15V not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GFPT2 Ile471Val I471V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303007 1616 10670 0.151453 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GFRA1 Thr361Ala T361A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GFRA1 Thr366Ala T366A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072276 973 10758 0.0904443 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.707 - - 1 - 0 N - - GFRA1 Tyr85Asn Y85N not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 8 - - GFRA2 Leu462Gln L462Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1128397 3783 10030 0.377169 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.831 - - 5 Y 0 N - - GFRAL Arg33Cys R33C not reviewed Insufficiently evaluated not reviewed unknown Array rs12199003 4074 10758 0.378695 32 0 37 0 0 - - - - - - - - - - - - - - - - 0.042 - - 8 Y 0 N - - GFRAL Ser387Pro S387P not reviewed Insufficiently evaluated not reviewed unknown Array rs9370418 7404 10758 0.688232 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GGA1 Leu439Phe L439F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGA1 Leu526Phe L526F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - GGA2 Ala424Pro A424P not reviewed Insufficiently evaluated not reviewed unknown Array rs1135045 7882 10758 0.732664 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GGA2 Asp145Asn D145N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.771 - - -1 - 1 N - - GGCX Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array rs699664 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - GGCX Arg325Gln R325Q not reviewed Insufficiently evaluated not reviewed unknown Array rs699664 4516 10758 0.419781 37 0 48 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 2 - 9 - - GGH Thr151Ile T151I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11545078 889 10758 0.0826362 12 0 13 2 2 - - - - - - - - - - - - - - - Y 0.846 - - 3 - 1 N - - GGH Ala31Thr A31T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11545077 2254 10738 0.209909 15 0 17 1 1 - - - - - - - - - - - - - - - Y - - - 1 - 1 N - - GGH Cys6Arg C6R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800909 2416 10610 0.22771 1 0 1 2 2 - - - - - - - - - - - - - - - Y - - - 8 Y 1 N - - GGN Gln647Stop Q647X not reviewed Insufficiently evaluated not reviewed unknown Array rs62123481 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - GGN Gly547Ser G547S not reviewed Insufficiently evaluated not reviewed unknown Array 116 10756 0.0107847 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - GGN Ala517Val A517V not reviewed Insufficiently evaluated not reviewed unknown Array rs56854837 343 10624 0.0322854 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GGN Ala480Pro A480P not reviewed Insufficiently evaluated not reviewed unknown Array rs11083455 467 8604 0.0542771 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GGN Arg405Lys R405K not reviewed Insufficiently evaluated not reviewed unknown Array 99 10570 0.00936613 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GGN Ala382Thr A382T not reviewed Insufficiently evaluated not reviewed unknown Array 119 10510 0.0113225 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GGN Pro161Gln P161Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10642 0.00225522 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - GGNBP2 Gly498Val G498V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - GGT1 Gly84Ser G84S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GGT1 Glu372Lys E372K not reviewed Insufficiently evaluated not reviewed unknown Array 116 10720 0.0108209 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - GGT5 Arg405Gln R405Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGT5 Arg437Gln R437Q not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGT5 Lys298Arg K298R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GGT5 Lys330Arg K330R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275984 3436 10758 0.31939 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GGT5 His43Pro H43P not reviewed Insufficiently evaluated not reviewed unknown Array 3 62 0.0483871 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GGT5 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array 3 66 0.0454545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GGT5 Val28Phe V28F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GGT5 Ser10Gly S10G not reviewed Insufficiently evaluated not reviewed unknown Array 795 10746 0.073981 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GGT6 Ala58Val A58V not reviewed Insufficiently evaluated not reviewed unknown Array rs11657054 7785 10570 0.736518 36 0 61 0 0 - - - - - - - - - - - - - - - - 0.101 - - 2 - 0 N - - GGT6 Arg40Trp R40W not reviewed Insufficiently evaluated not reviewed unknown Array rs7216284 2171 10758 0.201803 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - GGT7 Val316Ile V316I not reviewed Insufficiently evaluated not reviewed unknown Array rs61319953 347 10756 0.0322611 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GGTLC2 Val33Asp V33D not reviewed Insufficiently evaluated not reviewed unknown Array 113 10254 0.0110201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GGTLC2 Glu70Gly E70G not reviewed Insufficiently evaluated not reviewed unknown Array rs2904923 9393 10746 0.874093 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GGTLC2 Asp75Asn D75N not reviewed Insufficiently evaluated not reviewed unknown Array 777 10746 0.072306 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 3 - - GH2 Arg189Cys R189C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GH2 Arg204Cys R204C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.277 - - 8 Y 1 N - - GHDC Arg430Cys R430C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GHDC Arg469Cys R469C not reviewed Insufficiently evaluated not reviewed unknown Array 405 10690 0.0378859 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.746 - - 8 Y 1 N - - GHITM Trp160Ser W160S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GHR Trp4Arg W4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 7 Y 4 - 10 - - GHR Cys440Phe C440F not reviewed Insufficiently evaluated not reviewed unknown Array rs6182 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.237 Y - 4 Y 3 - 1 - - GHR Ile544Leu I544L not reviewed Insufficiently evaluated not reviewed unknown Array rs6180 4677 10758 0.434746 36 0 43 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - -2 - 3 - 1 - - GHR Pro579Thr P579T not reviewed Insufficiently evaluated not reviewed unknown Array rs6184 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 4 Y 2 - 1 - - GHRHR Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs4988496 1401 10744 0.130398 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GHRHR Glu121Asp E121D not reviewed Insufficiently evaluated not reviewed unknown Array rs4988498 901 10758 0.0837516 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GHRHR Met422Thr M422T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228078 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 9 - - GHRL Gln39Leu Q39L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GHRL Gln77Leu Q77L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GHRL Gln78Leu Q78L not reviewed Insufficiently evaluated not reviewed unknown Array 464 10758 0.0431307 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GHRL Gln89Leu Q89L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GHRL Gln90Leu Q90L benign Low clinical importance, Uncertain benign unknown Array rs4684677 5 128 0.0390625 2 0 2 1 1 ! Y - - 3 Y - - - - - - - Y - - 1.0 - - 5 Y 4 N 0 0 Initially thought to be associated with obesity, but follow-up comparisons found no enrichment in combined data. Polyphen 2 predicts a damaging effect. GHRL Leu59Met L59M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GHRL Leu60Met L60M not reviewed Insufficiently evaluated not reviewed unknown Array 646 10758 0.0600483 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GHRL Leu71Met L71M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GHRL Leu72Met L72M not reviewed Insufficiently evaluated not reviewed unknown Array rs696217 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - Y - - 0.974 - - -3 - 4 N - - GIF Gln23Arg Q23R not reviewed Insufficiently evaluated not reviewed unknown Array rs35211634 1064 10758 0.0989031 9 0 11 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 0 - 1 - 10 - - GIGYF1 Ala66Thr A66T not reviewed Insufficiently evaluated not reviewed unknown Array 146 10756 0.0135738 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - GIGYF2 Pro454Thr P454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 4 Y 2 N - - GIGYF2 Pro460Thr P460T not reviewed Insufficiently evaluated not reviewed unknown Array rs2289912 168 10758 0.0156163 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.855 - - 4 Y 2 N - - GIGYF2 Pro481Thr P481T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GIGYF2 Glu874Gln E874Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIGYF2 Glu880Gln E880Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIGYF2 Glu901Gln E901Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIMAP2 His161Arg H161R not reviewed Insufficiently evaluated not reviewed unknown Array rs2075078 2815 10758 0.261666 30 0 36 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - GIMAP4 Gln4Pro Q4P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - GIMAP4 Tyr5Cys Y5C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - GIMAP4 Ser7Arg S7R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - GIMAP4 Glu128Asp E128D not reviewed Insufficiently evaluated not reviewed unknown Array rs2293172 1418 10758 0.131809 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GIMAP5 Gly3Arg G3R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - GIMAP5 Glu284Lys E284K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - GIMAP6 Gln237Arg Q237R not reviewed Insufficiently evaluated not reviewed unknown Array rs11977216 400 10758 0.0371816 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - GIMAP6 Gly171Ser G171S not reviewed Insufficiently evaluated not reviewed unknown Array rs13234724 1746 10758 0.162298 24 0 25 0 0 - - - - - - - - - - - - - - - - 0.942 - - 2 - 1 N - - GIMAP6 Gly170Asp G170D not reviewed Insufficiently evaluated not reviewed unknown Array rs11974345 401 10758 0.0372746 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - GIMAP6 Ser105Leu S105L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GIMAP7 Arg83Cys R83C not reviewed Insufficiently evaluated not reviewed unknown Array rs3735080 1766 10758 0.164157 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - GIMAP7 Val186Leu V186L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - GIMAP8 Lys391Asn K391N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - GIN1 Val388Phe V388F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - GIN1 Thr239Met T239M not reviewed Insufficiently evaluated not reviewed unknown Array rs34813 2435 9734 0.250154 33 0 37 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - GINS1 Val97Ile V97I not reviewed Insufficiently evaluated not reviewed unknown Array rs6076347 3896 10758 0.362149 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GIP Ser103Gly S103G not reviewed Insufficiently evaluated not reviewed unknown Array rs2291725 4313 10758 0.400911 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GIPC1 Thr141Ser T141S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIPC1 Thr238Ser T238S not reviewed Insufficiently evaluated not reviewed unknown Array rs45458894 786 10632 0.0739278 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GIPC2 Ser31Cys S31C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10064 0.00158983 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 3 - 0 N - - GIPC2 Leu206Pro L206P not reviewed Insufficiently evaluated not reviewed unknown Array rs540742 2327 10758 0.216304 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GIPR Glu252Asp E252D not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.727 - - -2 - 1 N - - GIPR Arg341Pro R341P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - GIPR Glu354Gln E354Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800437 1883 10758 0.175033 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 1 N - - GIT2 Asn387Ser N387S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 1 - 5 - - GIT2 Asn389Ser N389S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - GIT2 Asp124Glu D124E not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GJA1 Ile157Val I157V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GJA3 Leu299Met L299M not reviewed Insufficiently evaluated not reviewed unknown Array rs968566 9865 10192 0.967916 17 0 34 0 0 - - - - - - - - - - - - Y - - - - - - -3 - 0 N - - GJA4 Val130Ile V130I not reviewed Insufficiently evaluated not reviewed unknown Array rs41266431 1076 10756 0.100037 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GJA4 Arg132Cys R132C not reviewed Insufficiently evaluated not reviewed unknown Array rs61777220 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - GJA4 Pro319Ser P319S not reviewed Insufficiently evaluated not reviewed unknown Array rs1764391 4089 10758 0.380089 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GJA9 Val497Ile V497I not reviewed Insufficiently evaluated not reviewed unknown Array rs880303 3915 10758 0.363915 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GJA9 Thr451Ile T451I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744044 282 10758 0.026213 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - GJA9 Asp311Gly D311G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - GJB2 Ser139Asn S139N pathogenic Insufficiently evaluated pathogenic recessive Array 5 10758 0.00046477 1 0 1 2 2 2 Y - - 0 Y 1 Y 3 Y 1 Y Y - - - 0.994 Y Y 0 - 5 - 10 - - This variant is associated with hearing loss, but the evidence supporting this is weak (possibly due to variant rarity). Other mutations in this gene are associated with hearing loss. GJB2 Val37Ile V37I pathogenic Moderate clinical importance, Likely pathogenic recessive Array rs72474224 16 10758 0.00148726 1 0 1 2 2 1 Y - - 5 Y - - 3 Y 3 Y Y Y - - 0.938 Y Y -4 - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive 17 71 1 189 45.254 6 N 10 1 1 This recessive variant is associated with mild hearing loss in Asians. GJB2 Val27Ile V27I benign Low clinical importance, Uncertain benign unknown Array rs2274084 29 10758 0.00269567 11 0 13 3 2 1 Y - - 2 Y - - 0 - - - Y - - - 0.981 Y Y -4 - 5 - 10 0 0 Probable non-pathogenic; other variants in gene associated with hearing loss. A few controversial mutations of uncertain or evolving clinical significance are included in this prototype. Examples include V27I, M34T, V37I, and E114G in the GJB2 gene and IVS2-2AG in the SLC26A5 gene. This variant is also observed both in Case and Control in the study of hearing loss. GJB3 Tyr177Asp Y177D not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 5 - 3 - - GJB4 Val37Met V37M pathogenic Insufficiently evaluated pathogenic dominant Array 2 10758 0.000185908 0 0 0 1 1 ! Y - - 0 Y 0 Y 3 Y 1 Y Y - - - 0.029 Y - 0 - 1 N - - This variant was found in two unrelated individuals from Taiwan with nonsyndromic deafness but does not have enough evidence to be significant. GJB4 Arg151Ser R151S not reviewed Insufficiently evaluated not reviewed unknown Array 340 10758 0.0316044 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 3 - 1 N - - GJB4 Glu204Ala E204A not reviewed Insufficiently evaluated not reviewed unknown Array rs3738346 728 10758 0.0676706 11 0 13 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 3 - 7 - - GJB7 Phe206Leu F206L not reviewed Insufficiently evaluated not reviewed unknown Array rs6934603 5596 10758 0.520171 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GJB7 Thr177Met T177M not reviewed Insufficiently evaluated not reviewed unknown Array rs41273281 965 10758 0.0897007 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - GJB7 Met83Ile M83I not reviewed Insufficiently evaluated not reviewed unknown Array rs73754173 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - GJB7 Val43Met V43M not reviewed Insufficiently evaluated not reviewed unknown Array rs35259282 696 10758 0.064696 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.655 - - 0 - 0 N - - GJB7 Thr20Ile T20I not reviewed Insufficiently evaluated not reviewed unknown Array rs4707358 6823 10758 0.634226 47 0 72 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GJC1 Arg343Gly R343G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GJC3 Pro164Ser P164S not reviewed Insufficiently evaluated not reviewed unknown Array rs73405465 6 128 0.046875 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.642 - - 3 - 1 N - - GJD4 Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array rs35398622 151 10758 0.0140361 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - GKN2 Ala162Val A162V not reviewed Insufficiently evaluated not reviewed unknown Array rs73935451 157 10758 0.0145938 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - GKN2 Ser113Asn S113N not reviewed Insufficiently evaluated not reviewed unknown Array rs1128272 2294 10758 0.213237 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GKN2 Ile101Phe I101F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - GKN2 Asp65Tyr D65Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62133344 414 10758 0.038483 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GKN2 Ile51Val I51V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739918 602 10758 0.0559584 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GLA Cys172Gly C172G pathogenic Insufficiently evaluated pathogenic recessive Array 1 0 0 1 1 2 Y 2 Y 3 Y - - 4 Y 2 Y Y - - - 0.999 Y Y 7 Y Fabry Disease 1 2 0 500 INF 5 - 5 - - This variant was found as part of a compound heterozygote together with D313Y in an individual with Fabry Disease. Yasuda et al. conclude that D313Y is not causal and has little impact on in vitro function, while the protein with this variant alone is dysfunctional. In all three D313Y cases there was a second variant observed so this represents 1/3 of the individuals; the variant was not seen in 500 control chromosomes. GLA Gln119Stop Q119X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 5 4 4 Y 1 Y 1 Y - - 4 Y 2 Y Y - - - - Y Y 10 Y Fabry Disease 4 96 0 100 INF 5 - 1 - - This variant is implicated in causing Fabry disease. Although the case/control and familial evidence isn't significant, this is a nonsense mutation early in the gene associated with the disease -- this is very convincing evidence supporting a pathogenic effect. As more controls rule out the presence of this variant normal population this should become significant in the case/control evidence. GLB1 Ser401Gly S401G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 2 - - GLB1 Ser502Gly S502G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 2 - - GLB1 Ser532Gly S532G not reviewed Insufficiently evaluated not reviewed unknown Array rs73826339 532 10064 0.0528617 3 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 6 - - GLB1 Cys390Arg C390R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - GLB1 Cys491Arg C491R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - GLB1 Cys521Arg C521R not reviewed Insufficiently evaluated not reviewed unknown Array rs4302331 9390 10056 0.933771 54 0 100 0 0 3 Y - - - - - - - - - - Y - - - - Y - 8 Y 1 N - - GLB1 Ala299Pro A299P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - GLB1 Ala400Pro A400P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - GLB1 Ala430Pro A430P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - GLB1 Tyr36Cys Y36C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 3 - - GLB1 Tyr6Cys Y6C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - GLB1 Leu11Val L11V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GLB1 Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array 4837 10130 0.477493 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - GLB1L His634Arg H634R not reviewed Insufficiently evaluated not reviewed unknown Array rs73077102 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 1 - 2 N - - GLB1L2 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLB1L3 Arg163Pro R163P not reviewed Insufficiently evaluated not reviewed unknown Array rs472287 10535 10748 0.980182 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GLB1L3 Val474Met V474M not reviewed Insufficiently evaluated not reviewed unknown Array rs2509062 10441 10444 0.999713 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLB1L3 Val532Ala V532A not reviewed Insufficiently evaluated not reviewed unknown Array 63 9840 0.00640244 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 3 - 1 - - GLCE Met65Val M65V not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - GLCE Val597Ile V597I not reviewed Insufficiently evaluated not reviewed unknown Array rs3865014 7170 10758 0.666481 49 0 72 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GLDC His847Tyr H847Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GLDC Leu462Val L462V not reviewed Insufficiently evaluated not reviewed unknown Array rs73400312 532 10758 0.0494516 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GLDN Leu158Val L158V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GLDN Ser265Asn S265N not reviewed Insufficiently evaluated not reviewed unknown Array rs17648128 3195 10758 0.296988 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLDN Asp351Asn D351N not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - GLDN Ala521Thr A521T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLE1 Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275260 2858 10758 0.265663 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GLE1 Val466Ile V466I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -4 - 3 - 1 - - GLI1 Ile281Leu I281L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GLI1 Ile409Leu I409L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GLI1 Gly805Asp G805D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GLI1 Gly933Asp G933D not reviewed Insufficiently evaluated not reviewed unknown Array rs2228224 5328 10758 0.495259 35 0 47 0 0 - - - - - - - - - - - - - - - - 0.916 - - 4 Y 1 N - - GLI1 Glu1100Gln E1100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228226 7646 10758 0.710727 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GLI1 Glu972Gln E972Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.543 - - -2 - 1 N - - GLI2 Ala1156Ser A1156S not reviewed Insufficiently evaluated not reviewed unknown Array rs3738880 6667 10654 0.625774 38 0 57 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - GLI2 Asp1306Asn D1306N not reviewed Insufficiently evaluated not reviewed unknown Array rs12711538 7292 10750 0.678326 16 0 25 0 0 4 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - GLI3 Ser1028Ile S1028I not reviewed Insufficiently evaluated not reviewed unknown Array 160 10732 0.0149087 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 5 Y 3 - 1 - - GLI3 Pro998Leu P998L not reviewed Insufficiently evaluated not reviewed unknown Array rs929387 2205 8734 0.252462 5 0 7 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 7 - - GLI3 Thr183Ala T183A not reviewed Insufficiently evaluated not reviewed unknown Array rs846266 7160 10758 0.665551 42 0 64 1 1 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 5 - - GLI4 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array rs1056148 3443 10386 0.331504 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GLI4 Ser326Ala S326A not reviewed Insufficiently evaluated not reviewed unknown Array rs73378237 521 10746 0.0484832 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - GLIPR1L1 Trp71Gly W71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GLIPR1L1 Trp71Stop W71X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GLIPR1L1 Trp71Cys W71C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GLIPR1L2 Lys240Asn K240N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - GLIS1 Asp423Asn D423N not reviewed Insufficiently evaluated not reviewed unknown Array rs41313369 660 10758 0.0613497 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GLIS1 Pro327Ser P327S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLIS1 Tyr240Cys Y240C not reviewed Insufficiently evaluated not reviewed unknown Array rs57378215 123 10756 0.0114355 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLIS1 Ala187Gly A187G not reviewed Insufficiently evaluated not reviewed unknown Array rs35227000 2752 10668 0.257968 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GLIS1 Phe157Leu F157L not reviewed Insufficiently evaluated not reviewed unknown Array rs34961060 354 10702 0.0330779 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLIS1 Thr110Ala T110A not reviewed Insufficiently evaluated not reviewed unknown Array rs4307514 2550 10608 0.240385 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GLIS2 Pro420Leu P420L not reviewed Insufficiently evaluated not reviewed unknown Array 51 9010 0.00566038 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - GLIS2 Thr492Ala T492A not reviewed Insufficiently evaluated not reviewed unknown Array rs8057701 665 10614 0.0626531 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.949 - - 1 - 1 N - - GLIS3 Leu741Phe L741F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GLIS3 Leu896Phe L896F not reviewed Insufficiently evaluated not reviewed unknown Array 453 10758 0.0421082 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GLIS3 Pro301Gln P301Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - GLIS3 Pro456Gln P456Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6415788 6156 9186 0.67015 15 0 26 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - GLIS3 Thr285Ala T285A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GLIS3 Thr440Ala T440A not reviewed Insufficiently evaluated not reviewed unknown Array 18 9014 0.00199689 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GLIS3 Ser269Pro S269P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GLIS3 Ser424Pro S424P not reviewed Insufficiently evaluated not reviewed unknown Array rs806052 8183 8194 0.998658 37 0 74 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - GLIS3 Gly251Cys G251C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - GLIS3 Gly406Cys G406C not reviewed Insufficiently evaluated not reviewed unknown Array 66 8910 0.00740741 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - GLIS3 Pro221Ser P221S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GLIS3 Pro376Ser P376S not reviewed Insufficiently evaluated not reviewed unknown Array 49 8626 0.0056805 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GLMN Met387Val M387V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10752 0.00827753 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.013 - - 0 - 0 N - - GLMN Leu336Ser L336S not reviewed Insufficiently evaluated not reviewed unknown Array rs35258161 152 10700 0.0142056 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.19 - - 6 Y 0 N - - GLMN Ile300Thr I300T not reviewed Insufficiently evaluated not reviewed unknown Array rs34062020 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 3 - 0 N - - GLO1 Glu111Ala E111A not reviewed Insufficiently evaluated not reviewed unknown Array rs4746 4392 10758 0.408254 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - GLP-1 Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLP1R Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array rs10305420 1774 7812 0.227087 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GLP1R Arg44His R44H not reviewed Insufficiently evaluated not reviewed unknown Array rs2295006 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - GLP1R Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3765467 25 10756 0.00232428 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 6 - - GLP1R Gly168Ser G168S not reviewed Insufficiently evaluated not reviewed unknown Array rs6923761 2643 10758 0.245678 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GLP1R Leu260Phe L260F not reviewed Insufficiently evaluated not reviewed unknown Array rs1042044 6134 10758 0.57018 49 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLP1R Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array rs10305492 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 1 - 3 - - GLP2R His22Leu H22L not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 3 - 3 - - GLP2R Asp470Asn D470N not reviewed Insufficiently evaluated not reviewed unknown Array rs17681684 2465 10758 0.229132 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GLP2R Arg472Trp R472W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733939 119 10758 0.0110615 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - GLRA1 Pro394Leu P394L not reviewed Insufficiently evaluated not reviewed unknown Array rs62636581 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GLRA1 Pro402Leu P402L not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - GLRA1 Ile238Asn I238N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GLRA4 Ile395Val I395V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLRA4 Arg153His R153H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - 1 - 1 N - - GLRA4 Arg106Cys R106C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - GLRA4 Ile85Val I85V not reviewed Insufficiently evaluated not reviewed unknown Array rs4907817 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLRX2 Arg40Trp R40W not reviewed Insufficiently evaluated not reviewed unknown Array rs10921310 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GLRX3 Gln21His Q21H not reviewed Insufficiently evaluated not reviewed unknown Array rs13991 1076 7506 0.143352 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.945 - - -1 - 1 N - - GLRX3 Pro123Ser P123S not reviewed Insufficiently evaluated not reviewed unknown Array rs2274217 2359 10758 0.219279 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GLRX3 Gln266Glu Q266E not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - GLS2 Leu581Pro L581P not reviewed Insufficiently evaluated not reviewed unknown Array rs2657879 1540 10758 0.143149 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GLS2 Ala45Gly A45G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLT1D1 Ser43Asn S43N not reviewed Insufficiently evaluated not reviewed unknown Array rs73438369 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - GLT1D1 Ala94Val A94V not reviewed Insufficiently evaluated not reviewed unknown Array rs73440307 649 10758 0.0603272 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - GLT6D1 Asn229Ser N229S not reviewed Insufficiently evaluated not reviewed unknown Array 13 9756 0.00133251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLT6D1 Pro219Ser P219S not reviewed Insufficiently evaluated not reviewed unknown Array rs17040344 587 9814 0.0598125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GLT6D1 Ala216Thr A216T not reviewed Insufficiently evaluated not reviewed unknown Array rs61739510 452 9814 0.0460567 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLT6D1 His195Arg H195R not reviewed Insufficiently evaluated not reviewed unknown Array rs35762223 1251 9776 0.127966 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GLT8D1 Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array rs2276812 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.107 - - 1 - 0 N - - GLT8D2 Lys211Asn K211N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - GLT8D2 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array rs17035120 463 10758 0.0430377 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLT8D3 Arg401Gly R401G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLT8D3 Arg432Gly R432G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLT8D3 Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLT8D3 Arg396His R396H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLT8D3 Ile210Val I210V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLT8D3 Ile241Val I241V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLT8D3 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GLT8D3 Pro182Leu P182L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GLT8D3 His117Gln H117Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GLT8D3 His148Gln H148Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GLT8D3 Arg126Ser R126S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLT8D3 Arg95Ser R95S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLT8D3 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLT8D3 Ala91Thr A91T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLTPD2 Val49Phe V49F not reviewed Insufficiently evaluated not reviewed unknown Array rs2304969 1503 10688 0.140625 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - GLTSCR1 Pro683Ser P683S not reviewed Insufficiently evaluated not reviewed unknown Array rs3745762 1527 6388 0.239042 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GLTSCR1 Thr1044Ala T1044A not reviewed Insufficiently evaluated not reviewed unknown Array rs13346368 2477 9858 0.251268 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GLTSCR2 Ser16Arg S16R not reviewed Insufficiently evaluated not reviewed unknown Array rs1042401 733 10758 0.0681353 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 1 N - - GLTSCR2 Asp31His D31H not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - GLTSCR2 Gln389Arg Q389R not reviewed Insufficiently evaluated not reviewed unknown Array rs1804994 3807 4700 0.81 23 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLUD2 Ser498Ala S498A not reviewed Insufficiently evaluated not reviewed unknown Array rs9697983 318 8761 0.0362972 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GLUL Met133Ile M133I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.646 - - -1 - 2 - 1 - - GLYAT Asn156Ser N156S not reviewed Insufficiently evaluated not reviewed unknown Array rs675815 10594 10758 0.984756 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLYAT Thr73Ile T73I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - GLYAT Ser17Thr S17T not reviewed Insufficiently evaluated not reviewed unknown Array rs10896818 1708 10758 0.158766 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.384 - - -2 - 0 N - - GLYATL2 Glu160Lys E160K not reviewed Insufficiently evaluated not reviewed unknown Array rs11229651 2046 9864 0.207421 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GLYCTK Arg27Cys R27C not reviewed Insufficiently evaluated not reviewed unknown Array rs34502608 35 10632 0.00329195 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 8 Y 1 - 2 - - GLYCTK Leu170Val L170V not reviewed Insufficiently evaluated not reviewed unknown Array rs35130772 406 10758 0.0377394 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 3 - - GM2A Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array rs1048719 303 10758 0.0281651 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - GM2A Lys26Asn K26N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.279 Y - 1 - 3 - 1 - - GM2A Ile59Val I59V not reviewed Insufficiently evaluated not reviewed unknown Array rs153477 6516 10758 0.605689 49 0 72 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - GM2A Met69Val M69V not reviewed Insufficiently evaluated not reviewed unknown Array rs153478 7765 10758 0.721788 52 0 90 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - GM2A Val153Ala V153A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740602 770 10758 0.0715746 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 2 - 1 N - - GMEB2 Ala204Val A204V not reviewed Insufficiently evaluated not reviewed unknown Array 59 10744 0.00549144 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GMEB2 Val34Met V34M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 1 N - - GML Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array rs3764795 938 10758 0.0871909 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - GMNN Asn18Thr N18T not reviewed Insufficiently evaluated not reviewed unknown Array rs1923185 559 10758 0.0519613 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.281 - - 1 - 0 N - - GMNN Leu48Phe L48F not reviewed Insufficiently evaluated not reviewed unknown Array rs2307307 857 10758 0.0796616 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.531 - - 0 - 0 N - - GMNN Arg54Trp R54W not reviewed Insufficiently evaluated not reviewed unknown Array rs2307306 859 10758 0.0798476 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - GMPPB Glu327Lys E327K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GMPPB Gln184Arg Q184R not reviewed Insufficiently evaluated not reviewed unknown Array rs1466685 10638 10758 0.988846 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GMPR Phe256Ile F256I benign Insufficiently evaluated benign unknown Array rs1042391 5822 10758 0.541179 50 0 82 0 0 3 Y - - - - - - - - - - - Y - - - - - 2 - 2 N - - GMPS Ser132Gly S132G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GNA14 Gly203Cys G203C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GNA15 Arg3His R3H not reviewed Insufficiently evaluated not reviewed unknown Array 45 9930 0.00453172 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 9 - - GNA15 Tyr147Cys Y147C not reviewed Insufficiently evaluated not reviewed unknown Array rs310680 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GNAI3 Glu122Asp E122D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GNAL Arg46Lys R46K not reviewed Insufficiently evaluated not reviewed unknown Array rs7236433 529 6452 0.0819901 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GNAL Gly212Val G212V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GNAL Gly289Val G289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GNAT1 Thr257Met T257M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.036 Y - 2 - 1 N - - GNB1L Thr284Met T284M not reviewed Insufficiently evaluated not reviewed unknown Array 182 10704 0.017003 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - GNB1L Trp239Gly W239G not reviewed Insufficiently evaluated not reviewed unknown Array rs2073770 960 10736 0.0894188 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GNB1L Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs5748449 1616 10758 0.150214 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GNB1L Thr2Met T2M not reviewed Insufficiently evaluated not reviewed unknown Array rs36070348 228 10754 0.0212014 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GNB2 Asp195Asn D195N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 1 - - GNB2L1 Ser146Ile S146I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - GNB3 Gly272Ser G272S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5442 567 10758 0.052705 6 0 6 0 0 - - - - - - - - - - - - - - - Y 0.184 - - 2 - 1 N - - GNGT1 Glu50Gln E50Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17243826 7 110 0.0636364 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.288 - - -2 - 0 N - - GNL1 Cys365Trp C365W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GNL3 Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNL3 Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11177 3457 10758 0.321342 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GNL3 Val355Met V355M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNL3 Val367Met V367M not reviewed Insufficiently evaluated not reviewed unknown Array rs2289247 4964 10758 0.461424 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GNL3L Ala501Ser A501S not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - GNLY Lys67Thr K67T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GNLY Lys82Thr K82T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - GNLY Thr104Ile T104I not reviewed Insufficiently evaluated not reviewed unknown Array rs11127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GNLY Thr119Ile T119I not reviewed Insufficiently evaluated not reviewed unknown Array rs11127 3088 10758 0.287042 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - GNPAT Leu259Ile L259I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - -2 - 3 N - - GNPAT Asp519Gly D519G not reviewed Insufficiently evaluated not reviewed unknown Array rs11558492 1809 10758 0.168154 13 0 14 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 4 Y 2 - 2 - - GNPTAB Gly871Ser G871S not reviewed Insufficiently evaluated not reviewed unknown Array rs56212569 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GNPTAB Gly480Glu G480E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.044 Y Y 6 Y 2 N - - GNPTG Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.034 - - 2 - 1 - 5 - - GNRH1 Trp16Ser W16S not reviewed Insufficiently evaluated not reviewed unknown Array rs6185 1944 9680 0.200826 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GNRH2 Ala16Val A16V not reviewed Insufficiently evaluated not reviewed unknown Array rs6051545 1622 10756 0.1508 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.697 - - 2 - 0 N - - GOLGA1 Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array rs634710 4087 10492 0.389535 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GOLGA1 Leu317Val L317V not reviewed Insufficiently evaluated not reviewed unknown Array rs583134 10532 10758 0.978992 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GOLGA2 Asn957Asp N957D not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - -1 - 2 N - - GOLGA2 Arg902Gly R902G not reviewed Insufficiently evaluated not reviewed unknown Array rs2240961 1267 10758 0.117773 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 6 Y 1 N - - GOLGA2 Glu714Ala E714A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GOLGA2 Met429Val M429V not reviewed Insufficiently evaluated not reviewed unknown Array 1150 10758 0.106897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GOLGA2L1 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GOLGA2L1 Glu8Lys E8K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA3 Lys1185Arg K1185R not reviewed Insufficiently evaluated not reviewed unknown Array rs2291260 2910 10758 0.270496 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 1 N - - GOLGA3 Lys820Glu K820E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - GOLGA3 Pro264Leu P264L not reviewed Insufficiently evaluated not reviewed unknown Array rs3741486 2259 10758 0.209983 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - GOLGA3 Ser81Cys S81C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - GOLGA3 Ser81Pro S81P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - GOLGA3 Gly70Glu G70E not reviewed Insufficiently evaluated not reviewed unknown Array rs2291256 659 10758 0.0612567 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 - 4 - - GOLGA4 Thr58Ile T58I not reviewed Insufficiently evaluated not reviewed unknown Array rs60600531 189 10756 0.0175716 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - GOLGA4 Gln1028Lys Q1028K not reviewed Insufficiently evaluated not reviewed unknown Array rs11718848 3373 10750 0.313767 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 1 N - - GOLGA4 Ser1190Phe S1190F not reviewed Insufficiently evaluated not reviewed unknown Array rs55988365 88 10752 0.00818452 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - GOLGA4 Lys1337Glu K1337E not reviewed Insufficiently evaluated not reviewed unknown Array rs73825080 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - GOLGA4 Asn1552Ser N1552S not reviewed Insufficiently evaluated not reviewed unknown Array rs9840779 184 10732 0.017145 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GOLGA4 Met1793Lys M1793K not reviewed Insufficiently evaluated not reviewed unknown Array rs62241896 3435 10754 0.319416 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.47 - - 4 Y 0 N - - GOLGA4 Val1812Ile V1812I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - GOLGA5 Ala67Gly A67G not reviewed Insufficiently evaluated not reviewed unknown Array rs17128572 600 10758 0.0557724 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GOLGA5 Phe350Leu F350L not reviewed Insufficiently evaluated not reviewed unknown Array rs1040835 8603 10758 0.799684 47 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GOLGA5 His592Arg H592R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGA6B Leu488Arg L488R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLGA8A Val568Ile V568I not reviewed Insufficiently evaluated not reviewed unknown Array 4769 10750 0.443628 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GOLGA8A Arg513Gln R513Q not reviewed Insufficiently evaluated not reviewed unknown Array 541 4056 0.133383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GOLGA8A Glu124Lys E124K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - GOLGA8B Ala488Val A488V not reviewed Insufficiently evaluated not reviewed unknown Array 847 1116 0.758961 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GOLGA8B Gln480Arg Q480R not reviewed Insufficiently evaluated not reviewed unknown Array 47 48 0.979167 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GOLGA8E Arg427Gly R427G not reviewed Insufficiently evaluated not reviewed unknown Array 2945 10404 0.283064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GOLGA8F Asn248Lys N248K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGA8G Asn399Lys N399K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGB1 Gly1765Asp G1765D not reviewed Insufficiently evaluated not reviewed unknown Array rs1127412 2338 10758 0.217327 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GOLGB1 Cys1713Phe C1713F not reviewed Insufficiently evaluated not reviewed unknown Array rs35674179 1438 10758 0.133668 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.63 - - 4 Y 0 N - - GOLGB1 Pro1249Ser P1249S not reviewed Insufficiently evaluated not reviewed unknown Array rs33988592 2551 10758 0.237126 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.052 - - 3 - 0 N - - GOLGB1 Tyr1212Cys Y1212C not reviewed Insufficiently evaluated not reviewed unknown Array rs3732410 2013 10758 0.187117 20 0 26 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - GOLGB1 Thr911Ser T911S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732407 1859 10756 0.172834 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - GOLIM4 Gly501Glu G501E not reviewed Insufficiently evaluated not reviewed unknown Array rs61743591 537 10758 0.0499163 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLIM4 Gln453Arg Q453R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743912 270 10758 0.0250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLM1 Gln322His Q322H not reviewed Insufficiently evaluated not reviewed unknown Array rs61741197 555 10758 0.0515895 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 1 N - - GOLM1 His217Arg H217R not reviewed Insufficiently evaluated not reviewed unknown Array rs2297002 1489 10758 0.138409 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GOLSYN Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GOLSYN Val256Ile V256I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GOLSYN Val258Ile V258I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GOLSYN Val259Ile V259I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GOLSYN Leu201Pro L201P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLSYN Leu203Pro L203P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLSYN Leu204Pro L204P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLSYN Leu85Pro L85P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLT1B Ser126Leu S126L not reviewed Insufficiently evaluated not reviewed unknown Array rs74067037 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - GON4L Met1418Val M1418V not reviewed Insufficiently evaluated not reviewed unknown Array rs2297775 2908 10758 0.27031 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GON4L Arg1342His R1342H not reviewed Insufficiently evaluated not reviewed unknown Array rs62000992 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - GON4L Val977Gly V977G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 8 Y 2 N - - GON4L Val977Ile V977I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - -4 - 0 N - - GON4L Gly976Val G976V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - GON4L Arg410Lys R410K not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -3 - 2 N - - GORAB Glu320Lys E320K not reviewed Insufficiently evaluated not reviewed unknown Array rs913257 5223 10758 0.485499 45 0 65 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 0 N - - GORASP1 Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array rs1109643 355 10758 0.0329987 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GORASP1 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - GORASP2 Ser432Phe S432F not reviewed Insufficiently evaluated not reviewed unknown Array rs3770436 169 10758 0.0157092 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.307 - - 5 Y 1 N - - GOSR2 Pro3Thr P3T not reviewed Insufficiently evaluated not reviewed unknown Array 108 8462 0.0127629 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - GOSR2 Arg67Lys R67K not reviewed Insufficiently evaluated not reviewed unknown Array rs197922 3485 10758 0.323945 30 0 31 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GOT1L1 Ser333Gly S333G not reviewed Insufficiently evaluated not reviewed unknown Array rs28379463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GOT1L1 His232Asn H232N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOT2 Val346Gly V346G not reviewed Insufficiently evaluated not reviewed unknown Array rs30842 8079 10758 0.750976 54 0 89 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GOT2 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - GOT2 Gly188Ser G188S not reviewed Insufficiently evaluated not reviewed unknown Array rs11076256 672 10758 0.0624651 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GOT2 Ala2Ser A2S not reviewed Insufficiently evaluated not reviewed unknown Array rs11558171 860 10310 0.0834142 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GP2 Ala355Glu A355E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GP2 Ala358Glu A358E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GP2 Ala502Glu A502E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GP2 Ala505Glu A505E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GP2 Asn110Thr N110T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GP2 Asn113Thr N113T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GP2 Asn257Thr N257T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GP2 Asn260Thr N260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GP2 Pro109Gln P109Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GP2 Pro112Gln P112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GP2 Pro256Gln P256Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GP2 Pro259Gln P259Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GP5 Gly430Glu G430E not reviewed Insufficiently evaluated not reviewed unknown Array 23 10656 0.00215841 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 6 Y 0 N - - GP5 Gln367His Q367H not reviewed Insufficiently evaluated not reviewed unknown Array 270 10034 0.0269085 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GP5 Pro91Ala P91A not reviewed Insufficiently evaluated not reviewed unknown Array rs34799505 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - 2 - 2 N - - GP6 Phe606Leu F606L not reviewed Insufficiently evaluated not reviewed unknown Array rs1671150 5802 7192 0.80673 54 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GP6 Thr602Met T602M not reviewed Insufficiently evaluated not reviewed unknown Array rs2886416 404 7918 0.051023 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GP6 Arg573Gly R573G not reviewed Insufficiently evaluated not reviewed unknown Array rs1654412 7136 9638 0.740403 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GP6 Gly323Arg G323R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 6 Y 1 N - - GP6 Arg324Gln R324Q not reviewed Insufficiently evaluated not reviewed unknown Array 70 9992 0.0070056 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GP6 Lys323Thr K323T not reviewed Insufficiently evaluated not reviewed unknown Array rs1671152 7945 9920 0.800907 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GP6 Asn322His N322H not reviewed Insufficiently evaluated not reviewed unknown Array rs1671152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GP6 Leu317Gln L317Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1654413 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GP6 Pro314Ala P314A not reviewed Insufficiently evaluated not reviewed unknown Array rs2304166 4718 9714 0.485691 34 0 47 0 0 - - - - - - - - - - - - - - - - 0.121 - - 2 - 0 N - - GP6 Gly278Ser G278S not reviewed Insufficiently evaluated not reviewed unknown Array rs60843302 31 9972 0.0031087 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GP6 Ala249Thr A249T not reviewed Insufficiently evaluated not reviewed unknown Array rs2304167 7412 10086 0.73488 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GP6 Glu237Lys E237K not reviewed Insufficiently evaluated not reviewed unknown Array rs1654416 7626 9928 0.768131 54 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GP6 Pro219Ser P219S not reviewed Insufficiently evaluated not reviewed unknown Array rs1613662 7986 9686 0.824489 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GP6 Pro26Ser P26S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.506 - - 3 - 2 - 3 - - GP9 Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array rs3796130 9 8362 0.0010763 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.022 Y - 1 - 1 N - - GPA33 Lys165Asn K165N not reviewed Insufficiently evaluated not reviewed unknown Array rs16858376 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.588 - - 1 - 2 - 3 - - GPA33 Asp20Asn D20N not reviewed Insufficiently evaluated not reviewed unknown Array rs2274531 961 10758 0.0893289 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 6 - - GPAA1 Ser210Phe S210F not reviewed Insufficiently evaluated not reviewed unknown Array rs73379188 51 10510 0.00485252 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - GPAA1 Glu275Gln E275Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10302 0.00621238 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPAA1 Arg493Gly R493G not reviewed Insufficiently evaluated not reviewed unknown Array rs73379193 50 10210 0.00489716 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - GPAM Cys490Phe C490F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - GPAM His297Arg H297R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - GPAM Glu131Gly E131G not reviewed Insufficiently evaluated not reviewed unknown Array rs10787428 6007 10758 0.558375 45 0 66 0 0 - - - - - - - - - - - - - - - - 0.338 - - 6 Y 0 N - - GPAM Ile43Val I43V not reviewed Insufficiently evaluated not reviewed unknown Array rs2792751 8409 10758 0.781651 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPATCH1 Leu476Pro L476P not reviewed Insufficiently evaluated not reviewed unknown Array rs2287679 4570 10758 0.4248 12 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GPATCH1 Ala559Thr A559T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - GPATCH1 His724Arg H724R not reviewed Insufficiently evaluated not reviewed unknown Array rs10416265 4418 10758 0.410671 42 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPATCH1 Leu728Ser L728S not reviewed Insufficiently evaluated not reviewed unknown Array rs10421769 5810 10758 0.540063 46 0 79 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPATCH1 Ala863Val A863V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10756 0.00743771 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPATCH1 Glu909Lys E909K not reviewed Insufficiently evaluated not reviewed unknown Array rs16967824 263 10758 0.0244469 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPATCH2 Leu254His L254H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 0 N - - GPATCH2 Glu253Asp E253D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - GPATCH4 Phe357Val F357V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPATCH4 Phe362Val F362V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPATCH4 Thr356Ser T356S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPATCH4 Thr361Ser T361S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPATCH8 Cys1161Trp C1161W not reviewed Insufficiently evaluated not reviewed unknown Array rs936018 192 10756 0.0178505 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GPBP1 Ile57Val I57V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GPBP1 Ile64Val I64V not reviewed Insufficiently evaluated not reviewed unknown Array rs62000370 76 10758 0.00706451 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPBP1L1 Pro192Ser P192S not reviewed Insufficiently evaluated not reviewed unknown Array rs36067922 334 10758 0.0310467 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 3 - 2 - - GPBP1L1 Asn56Ser N56S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - GPC1 Gly362Ser G362S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPC1 Val389Ile V389I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPC1 Gly485Ser G485S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737165 158 10704 0.0147608 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPC1 Ser500Gly S500G not reviewed Insufficiently evaluated not reviewed unknown Array rs2228331 8298 10754 0.77162 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPC3 Gln332Arg Q332R not reviewed Insufficiently evaluated not reviewed unknown Array 7 8761 0.000798995 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.108 Y Y 0 - 2 N - - GPC4 Ala442Val A442V not reviewed Insufficiently evaluated not reviewed unknown Array rs1048369 3564 8761 0.406803 30 0 49 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - GPC4 Glu391Asp E391D not reviewed Insufficiently evaluated not reviewed unknown Array rs1129980 3563 8761 0.406689 30 0 49 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - GPC5 Ala155Val A155V not reviewed Insufficiently evaluated not reviewed unknown Array rs553717 1514 10758 0.140732 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPC6 Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.094 Y - 2 - 1 N - - GPC6 Val412Met V412M not reviewed Insufficiently evaluated not reviewed unknown Array rs1535692 1627 10758 0.151236 20 0 22 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 1 N - - GPD2 Tyr239Stop Y239X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPD2 Arg264His R264H not reviewed Insufficiently evaluated not reviewed unknown Array rs2116665 6776 10758 0.629857 47 0 72 0 0 - - - - - - - - - - - - - - - - 0.039 - - 1 - 0 N - - GPER Pro16Leu P16L not reviewed Insufficiently evaluated not reviewed unknown Array rs11544331 2119 10756 0.197006 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GPHB5 Gly52Ala G52A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPHN Val43Leu V43L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.068 - Y 0 - 1 N - - GPIHBP1 Cys14Phe C14F not reviewed Insufficiently evaluated not reviewed unknown Array rs11538389 936 10698 0.087493 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 1 N - - GPIHBP1 Ser144Phe S144F not reviewed Insufficiently evaluated not reviewed unknown Array 559 10754 0.0519807 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 0 N - - GPKOW Ser329Ala S329A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GPLD1 Thr698Ile T698I not reviewed Insufficiently evaluated not reviewed unknown Array rs1772256 9806 10758 0.911508 50 0 92 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - GPLD1 Met694Val M694V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042303 4355 10758 0.404815 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - GPLD1 Gly396Ser G396S not reviewed Insufficiently evaluated not reviewed unknown Array rs6924628 730 10758 0.0678565 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - GPLD1 Asp275Glu D275E not reviewed Insufficiently evaluated not reviewed unknown Array rs17300770 1072 10758 0.0996468 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - GPLD1 Val30Ile V30I not reviewed Insufficiently evaluated not reviewed unknown Array rs1126617 3509 10758 0.326176 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPLD1 Leu17Val L17V not reviewed Insufficiently evaluated not reviewed unknown Array rs2235501 1425 10758 0.13246 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - GPN1 Arg12Lys R12K not reviewed Insufficiently evaluated not reviewed unknown Array 2140 10758 0.198922 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GPN1 Gln115His Q115H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPN1 Gln131His Q131H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPN1 Gln198His Q198H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPN1 Gln224His Q224H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPN2 Arg264Gly R264G not reviewed Insufficiently evaluated not reviewed unknown Array rs3170660 7842 10758 0.728946 51 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPN2 Gln227Arg Q227R not reviewed Insufficiently evaluated not reviewed unknown Array rs17856257 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - GPNMB Gly30Val G30V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR1 Ile307Val I307V not reviewed Insufficiently evaluated not reviewed unknown Array rs3732083 5539 10758 0.514873 40 0 56 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - GPR101 Leu376Pro L376P not reviewed Insufficiently evaluated not reviewed unknown Array rs5931046 15 92 0.163043 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.03 - - 7 Y 0 N - - GPR101 Thr293Ile T293I not reviewed Insufficiently evaluated not reviewed unknown Array rs73566014 5 92 0.0543478 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - GPR101 Leu131Ser L131S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - GPR101 Val124Leu V124L not reviewed Insufficiently evaluated not reviewed unknown Array rs1190736 22 92 0.23913 17 0 27 0 0 - - - - - - - - - - - - - - - - 0.685 - - 0 - 0 N - - GPR107 Arg182Ile R182I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.944 - - 7 Y 2 N - - GPR107 Arg288Trp R288W not reviewed Insufficiently evaluated not reviewed unknown Array rs73541510 2 10758 0.000185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GPR108 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array rs11539588 417 9744 0.0427956 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.155 - - 1 - 0 N - - GPR108 Leu79Pro L79P not reviewed Insufficiently evaluated not reviewed unknown Array rs4807897 86 10102 0.00851316 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR108 Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array rs340138 7985 9006 0.886631 41 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR110 Thr803Pro T803P not reviewed Insufficiently evaluated not reviewed unknown Array rs73736331 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR110 Ile787Val I787V not reviewed Insufficiently evaluated not reviewed unknown Array rs1226475 1442 10758 0.13404 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR110 Ile571Met I571M not reviewed Insufficiently evaluated not reviewed unknown Array rs937057 1445 10758 0.134319 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GPR111 Ser49Pro S49P not reviewed Insufficiently evaluated not reviewed unknown Array rs13212023 1479 9988 0.148078 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPR111 Gln80Arg Q80R not reviewed Insufficiently evaluated not reviewed unknown Array rs6907125 5937 10038 0.591452 40 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR111 Leu256Met L256M not reviewed Insufficiently evaluated not reviewed unknown Array rs17541107 3162 9738 0.324707 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GPR111 Lys359Glu K359E not reviewed Insufficiently evaluated not reviewed unknown Array rs71538333 5750 9832 0.584825 38 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR111 Ile399Val I399V not reviewed Insufficiently evaluated not reviewed unknown Array rs9381594 5978 10036 0.595656 40 0 54 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR112 Ile276Met I276M not reviewed Insufficiently evaluated not reviewed unknown Array rs4829829 4364 8761 0.498117 26 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GPR112 Pro368His P368H not reviewed Insufficiently evaluated not reviewed unknown Array rs5930931 4357 8761 0.497318 26 0 43 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GPR112 Thr1213Asn T1213N not reviewed Insufficiently evaluated not reviewed unknown Array rs4829830 4421 8761 0.504623 27 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR112 Thr1383Met T1383M not reviewed Insufficiently evaluated not reviewed unknown Array rs59682087 65 8761 0.00741924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR112 Ser1540Pro S1540P not reviewed Insufficiently evaluated not reviewed unknown Array rs912002 4412 8761 0.503595 27 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPR112 Val1625Ile V1625I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPR112 Phe1791Leu F1791L not reviewed Insufficiently evaluated not reviewed unknown Array rs5930932 4542 8759 0.518552 27 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR112 Glu2505Gly E2505G not reviewed Insufficiently evaluated not reviewed unknown Array rs73637917 84 8760 0.00958904 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR113 Arg638Stop R638X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPR113 Arg768Stop R768X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPR113 Arg837Stop R837X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPR113 His400Tyr H400Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7568529 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR113 His530Tyr H530Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7568529 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR113 His599Tyr H599Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7568529 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - GPR113 Ala205Thr A205T not reviewed Insufficiently evaluated not reviewed unknown Array rs2052937 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR113 Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array rs2052937 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR113 Ala404Thr A404T not reviewed Insufficiently evaluated not reviewed unknown Array rs2052937 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR113 Leu100Pro L100P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR113 Leu159Pro L159P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - GPR113 Leu90Pro L90P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR114 Met285Val M285V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.093 - - 0 - 0 N - - GPR114 Arg352His R352H not reviewed Insufficiently evaluated not reviewed unknown Array rs74019570 437 10758 0.0406209 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - GPR114 Arg509Cys R509C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.898 - - 8 Y 2 N - - GPR115 Lys541Asn K541N not reviewed Insufficiently evaluated not reviewed unknown Array rs9369738 8857 10758 0.823294 52 0 89 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 0 N - - GPR116 Pro1178Thr P1178T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR116 Met856Thr M856T not reviewed Insufficiently evaluated not reviewed unknown Array rs547499 5993 10758 0.557074 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR116 Val801Ile V801I not reviewed Insufficiently evaluated not reviewed unknown Array rs9395218 2321 10758 0.215746 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR116 Thr604Met T604M not reviewed Insufficiently evaluated not reviewed unknown Array rs586024 8799 10758 0.817903 50 0 86 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR116 Lys379Met K379M not reviewed Insufficiently evaluated not reviewed unknown Array rs41273668 265 10758 0.0246328 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR116 Arg130Trp R130W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR120 Ser2Thr S2T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - GPR120 Arg67Cys R67C not reviewed Insufficiently evaluated not reviewed unknown Array rs61866610 10 90 0.111111 7 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - GPR124 Ile41Val I41V not reviewed Insufficiently evaluated not reviewed unknown Array 63 5972 0.0105492 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - -4 - 1 N - - GPR124 Val320Met V320M not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - GPR124 Val1146Ala V1146A not reviewed Insufficiently evaluated not reviewed unknown Array 22 5772 0.0038115 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPR124 Cys1196Tyr C1196Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR125 Val1043Met V1043M not reviewed Insufficiently evaluated not reviewed unknown Array rs9002 2552 10758 0.237219 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR125 Ala755Val A755V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736468 436 10758 0.040528 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - GPR125 Ala464Glu A464E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 3 - 1 N - - GPR126 Lys230Gln K230Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11155242 1886 9552 0.197446 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GPR126 Gln512His Q512H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR126 Gln540His Q540H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9716 0.000205846 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR126 Gln1099Arg Q1099R not reviewed Insufficiently evaluated not reviewed unknown Array rs1262686 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR126 Gln1127Arg Q1127R not reviewed Insufficiently evaluated not reviewed unknown Array rs1262686 9572 9588 0.998331 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR126 Gly1139Ala G1139A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR126 Gly1167Ala G1167A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR128 Lys151Glu K151E not reviewed Insufficiently evaluated not reviewed unknown Array rs1144122 3042 10758 0.282766 19 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR128 Lys425Arg K425R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730367 657 10756 0.0610822 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - GPR132 Ala267Thr A267T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - GPR133 Ser464Ala S464A not reviewed Insufficiently evaluated not reviewed unknown Array 410 10758 0.0381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 0 N - - GPR133 Val508Met V508M not reviewed Insufficiently evaluated not reviewed unknown Array rs11833801 296 10758 0.0275144 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GPR133 Gln616Pro Q616P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - GPR133 Leu708Phe L708F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - GPR133 Met851Thr M851T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPR135 Ser191Asn S191N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - GPR135 Ala83Val A83V not reviewed Insufficiently evaluated not reviewed unknown Array 208 5714 0.0364018 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - GPR135 Gln5Pro Q5P not reviewed Insufficiently evaluated not reviewed unknown Array rs1752428 956 3154 0.303107 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR137 His359Arg H359R not reviewed Insufficiently evaluated not reviewed unknown Array rs59138617 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GPR137C Ser27Gly S27G not reviewed Insufficiently evaluated not reviewed unknown Array 1067 3600 0.296389 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR137C Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array rs762063 4442 9738 0.456151 35 0 47 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - GPR141 Arg305Cys R305C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - GPR142 Arg86His R86H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - GPR142 Arg124Gln R124Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - GPR142 His132Asn H132N not reviewed Insufficiently evaluated not reviewed unknown Array rs2382647 87 88 0.988636 36 0 71 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GPR146 Gly11Glu G11E not reviewed Insufficiently evaluated not reviewed unknown Array rs11761941 1260 10740 0.117318 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPR146 Thr144Met T144M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - GPR146 Asp221Glu D221E not reviewed Insufficiently evaluated not reviewed unknown Array 9 10676 0.000843012 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - GPR146 Val266Met V266M not reviewed Insufficiently evaluated not reviewed unknown Array rs55677825 320 10758 0.0297453 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR148 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - GPR148 Thr317Pro T317P not reviewed Insufficiently evaluated not reviewed unknown Array rs272128 10070 10758 0.936048 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR149 Leu676Phe L676F not reviewed Insufficiently evaluated not reviewed unknown Array rs72996700 56 9876 0.00567031 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.197 - - 0 - 0 N - - GPR15 Pro37Ser P37S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230344 20 128 0.15625 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.92 - - 3 - 1 N - - GPR15 Met112Val M112V not reviewed Insufficiently evaluated not reviewed unknown Array rs35320046 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR150 Glu112Gln E112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - -2 - 1 N - - GPR150 Glu214Gln E214Q not reviewed Insufficiently evaluated not reviewed unknown Array 558 8210 0.0679659 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - GPR151 Leu261Val L261V not reviewed Insufficiently evaluated not reviewed unknown Array rs7709485 2289 10758 0.212772 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR151 Ala144Val A144V not reviewed Insufficiently evaluated not reviewed unknown Array rs7713676 588 10758 0.054657 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.294 - - 2 - 0 N - - GPR152 Leu317Val L317V not reviewed Insufficiently evaluated not reviewed unknown Array rs1638559 1456 10758 0.135341 13 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR152 Gly61Arg G61R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10736 0.00149031 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - GPR153 Val402Met V402M not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR153 Arg209His R209H not reviewed Insufficiently evaluated not reviewed unknown Array rs12735670 7648 10740 0.712104 41 0 62 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - GPR153 Asp75Asn D75N not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.246 - - -1 - 1 N - - GPR156 Glu516Asp E516D not reviewed Insufficiently evaluated not reviewed unknown Array rs902790 116 128 0.90625 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GPR156 Arg327Cys R327C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.532 - - 8 Y 1 N - - GPR156 Val206Met V206M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR156 Thr202Ile T202I not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - GPR157 Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array rs12075362 646 10758 0.0600483 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.857 - - 2 - 1 N - - GPR157 Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array rs72637739 1702 10758 0.158208 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - GPR157 Arg193Trp R193W not reviewed Insufficiently evaluated not reviewed unknown Array rs72863998 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GPR157 Tyr103Ser Y103S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - GPR157 Asn71Asp N71D not reviewed Insufficiently evaluated not reviewed unknown Array rs61785839 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR158 Ala425Gly A425G not reviewed Insufficiently evaluated not reviewed unknown Array rs2480345 6906 10758 0.641941 39 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR158 Ile1209Val I1209V not reviewed Insufficiently evaluated not reviewed unknown Array rs10828833 6180 10756 0.574563 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR160 Gln14Glu Q14E not reviewed Insufficiently evaluated not reviewed unknown Array rs73030619 94 10742 0.0087507 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GPR162 Arg175Gly R175G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR162 Arg459Gly R459G not reviewed Insufficiently evaluated not reviewed unknown Array rs11612427 2455 10758 0.228202 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.037 - - 6 Y 0 N - - GPR17 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR17 Arg157His R157H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - GPR17 Arg273His R273H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GPR17 Arg301His R301H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GPR17 Glu325Lys E325K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR17 Glu353Lys E353K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - GPR172A Val120Ala V120A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 2 - 1 N - - GPR172B Val296Met V296M not reviewed Insufficiently evaluated not reviewed unknown Array rs2304445 1679 10758 0.15607 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - GPR172B Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array rs346821 7398 10758 0.687674 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR172B Gln70Arg Q70R not reviewed Insufficiently evaluated not reviewed unknown Array rs346822 10252 10758 0.952965 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR174 Ser162Pro S162P not reviewed Insufficiently evaluated not reviewed unknown Array rs3827440 4660 8761 0.531903 29 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPR177 Val463Ile V463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPR177 Val465Ile V465I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPR179 Ala2125Thr A2125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR179 Pro1977His P1977H not reviewed Insufficiently evaluated not reviewed unknown Array rs62073368 213 10014 0.0212702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 5 Y 1 N - - GPR179 Gln1869Glu Q1869E not reviewed Insufficiently evaluated not reviewed unknown Array rs4399578 496 9888 0.0501618 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GPR179 Cys1381Arg C1381R not reviewed Insufficiently evaluated not reviewed unknown Array rs4398144 55 10180 0.00540275 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 3 - 3 - - GPR179 Arg1190Gln R1190Q not reviewed Insufficiently evaluated not reviewed unknown Array 129 10360 0.0124517 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR179 Lys1150Glu K1150E not reviewed Insufficiently evaluated not reviewed unknown Array rs55727040 1644 10406 0.157986 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR179 Arg884Trp R884W not reviewed Insufficiently evaluated not reviewed unknown Array rs72832277 422 10232 0.0412432 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GPR179 Ala798Thr A798T not reviewed Insufficiently evaluated not reviewed unknown Array 108 9978 0.0108238 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - GPR179 Arg639Leu R639L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GPR179 Arg532His R532H not reviewed Insufficiently evaluated not reviewed unknown Array rs59208852 131 10520 0.0124525 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GPR182 Cys349Arg C349R not reviewed Insufficiently evaluated not reviewed unknown Array rs35493121 1174 10758 0.109128 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - GPR19 Val189Ile V189I not reviewed Insufficiently evaluated not reviewed unknown Array rs4763862 9327 10758 0.866983 56 0 100 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR20 Gly344Ser G344S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR20 Gly313Ser G313S not reviewed Insufficiently evaluated not reviewed unknown Array rs34591516 755 10758 0.0701803 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR20 Arg260Cys R260C not reviewed Insufficiently evaluated not reviewed unknown Array rs36092215 1136 10746 0.105714 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 - 4 - - GPR20 His230Arg H230R not reviewed Insufficiently evaluated not reviewed unknown Array rs10875472 8558 10340 0.82766 43 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR31 His91Arg H91R not reviewed Insufficiently evaluated not reviewed unknown Array rs6902566 13 14 0.928571 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.221 - - 1 - 0 N - - GPR32 Thr189Met T189M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730517 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 1 - 1 - - GPR32 Phe327Leu F327L not reviewed Insufficiently evaluated not reviewed unknown Array rs1864011 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - GPR32 Thr332Pro T332P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR32 Pro354Ser P354S not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR34 Asn295Ser N295S not reviewed Insufficiently evaluated not reviewed unknown Array rs61746390 185 8761 0.0211163 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - GPR35 Val76Met V76M not reviewed Insufficiently evaluated not reviewed unknown Array rs13387859 229 10756 0.0212904 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 1 - 2 - - GPR35 Thr108Met T108M not reviewed Insufficiently evaluated not reviewed unknown Array rs3749171 2045 10752 0.190197 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.112 - - 2 - 0 N - - GPR35 Arg125Ser R125S not reviewed Insufficiently evaluated not reviewed unknown Array 213 10700 0.0199065 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - GPR35 Thr253Met T253M not reviewed Insufficiently evaluated not reviewed unknown Array rs12468485 586 10758 0.0544711 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.471 - - 2 - 1 - 7 - - GPR35 Ser294Arg S294R not reviewed Insufficiently evaluated not reviewed unknown Array rs3749172 4935 10758 0.458728 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPR37 Thr589Met T589M not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - GPR37L1 Pro81Ala P81A not reviewed Insufficiently evaluated not reviewed unknown Array rs3795594 1479 10756 0.137505 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR37L1 Gly90Asp G90D not reviewed Insufficiently evaluated not reviewed unknown Array rs3795595 9292 10758 0.863729 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR37L1 Leu106Met L106M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GPR39 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array rs2241764 4189 10758 0.389385 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR39 Asn212Ser N212S not reviewed Insufficiently evaluated not reviewed unknown Array rs58748621 303 10758 0.0281651 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GPR4 Pro193Leu P193L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GPR44 Val204Ala V204A not reviewed Insufficiently evaluated not reviewed unknown Array rs2467642 10578 10744 0.98455 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR45 Leu312Phe L312F not reviewed Insufficiently evaluated not reviewed unknown Array rs35946826 1207 10758 0.112196 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.381 - - 0 - 0 N - - GPR50 His505Pro H505P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR50 Thr532Ala T532A not reviewed Insufficiently evaluated not reviewed unknown Array rs561077 3864 8670 0.445675 26 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR50 Ile606Val I606V not reviewed Insufficiently evaluated not reviewed unknown Array rs13440581 3976 8498 0.467875 22 0 39 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR55 Gly195Val G195V not reviewed Insufficiently evaluated not reviewed unknown Array rs3749073 1872 10758 0.17401 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GPR55 Val103Ile V103I not reviewed Insufficiently evaluated not reviewed unknown Array 357 10758 0.0331846 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - GPR56 Ser281Arg S281R not reviewed Insufficiently evaluated not reviewed unknown Array rs1801257 6555 10758 0.609314 49 0 76 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 2 - - GPR56 Ser286Arg S286R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - GPR56 Gln306His Q306H not reviewed Insufficiently evaluated not reviewed unknown Array rs1801255 2226 10758 0.206916 10 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 2 - - GPR56 Gln311His Q311H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GPR6 Trp253Cys W253C not reviewed Insufficiently evaluated not reviewed unknown Array 35 10748 0.00325642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - GPR62 Thr151Pro T151P not reviewed Insufficiently evaluated not reviewed unknown Array rs28587738 3292 3318 0.992164 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR62 His216Arg H216R not reviewed Insufficiently evaluated not reviewed unknown Array rs28651222 6527 6558 0.995273 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR62 Val313Leu V313L not reviewed Insufficiently evaluated not reviewed unknown Array rs323871 1107 10570 0.10473 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR63 Val21Met V21M not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 1 - 4 - - GPR64 Asn749Ser N749S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - GPR64 Asn757Ser N757S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - GPR64 Asn768Ser N768S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - GPR64 Asn771Ser N771S not reviewed Insufficiently evaluated not reviewed unknown Array rs3924227 3 8761 0.000342426 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 3 - 3 - - GPR64 Cys567Trp C567W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR64 Cys575Trp C575W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR64 Cys586Trp C586W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR64 Cys589Trp C589W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GPR64 Ser463Ile S463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR64 Ser471Ile S471I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR64 Ser482Ile S482I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR64 Ser485Ile S485I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - GPR64 Arg244Trp R244W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR64 Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR64 Arg263Trp R263W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR64 Arg266Trp R266W not reviewed Insufficiently evaluated not reviewed unknown Array rs61742971 404 8761 0.0461135 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - GPR64 Gly9Asp G9D not reviewed Insufficiently evaluated not reviewed unknown Array rs73445689 10 8761 0.00114142 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - GPR65 Ile231Leu I231L not reviewed Insufficiently evaluated not reviewed unknown Array rs3742704 1321 10758 0.122792 18 0 17 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - GPR78 Arg201Ser R201S not reviewed Insufficiently evaluated not reviewed unknown Array rs17844778 2438 10528 0.231573 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPR78 Arg342His R342H not reviewed Insufficiently evaluated not reviewed unknown Array rs9685931 1469 10740 0.136778 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR81 Asp253His D253H not reviewed Insufficiently evaluated not reviewed unknown Array rs36124671 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 2 - - GPR83 Pro374Gln P374Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3740868 845 10758 0.0785462 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR84 Tyr370His Y370H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - GPR84 Ser280Asn S280N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GPR84 Ser15Tyr S15Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - GPR88 Val190Ile V190I not reviewed Insufficiently evaluated not reviewed unknown Array rs2809819 2353 6512 0.361333 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPR97 Arg5Ser R5S not reviewed Insufficiently evaluated not reviewed unknown Array rs62039891 829 10672 0.0776799 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 1 N - - GPR97 Thr84Met T84M not reviewed Insufficiently evaluated not reviewed unknown Array rs57838522 300 10758 0.0278862 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPR97 Met393Leu M393L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - GPR97 Gly396Ser G396S not reviewed Insufficiently evaluated not reviewed unknown Array 277 10758 0.0257483 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 1 - 1 - - GPR98 Leu127Arg L127R not reviewed Insufficiently evaluated not reviewed unknown Array rs41311333 311 9438 0.0329519 3 0 3 0 0 5 Y - - - - - - - - - - Y - - - 0.654 Y Y 6 Y 4 - 1 - - GPR98 Leu1093Phe L1093F not reviewed Insufficiently evaluated not reviewed unknown Array rs2366777 6955 9520 0.730567 53 0 91 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - GPR98 Asp1236His D1236H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.879 Y Y 3 - 4 N - - GPR98 Gly1240Arg G1240R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - GPR98 Thr1927Met T1927M not reviewed Insufficiently evaluated not reviewed unknown Array rs17544552 723 9894 0.0730746 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 2 N - - GPR98 Val1951Ile V1951I not reviewed Insufficiently evaluated not reviewed unknown Array rs4916684 7197 9836 0.7317 52 0 90 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - GPR98 Asn1985Asp N1985D not reviewed Insufficiently evaluated not reviewed unknown Array rs41303352 1856 9644 0.192451 24 0 27 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -1 - 2 N - - GPR98 Pro1987Leu P1987L not reviewed Insufficiently evaluated not reviewed unknown Array rs4916685 2910 9650 0.301554 29 0 35 0 0 5 Y - - - - - - - - - - Y - - - 0.366 Y Y 7 Y 2 N - - GPR98 Leu2004Phe L2004F not reviewed Insufficiently evaluated not reviewed unknown Array rs16868972 2249 9626 0.233638 27 0 33 0 0 - - - - - - - - - - - - Y - - - 0.841 Y Y 0 - 2 N - - GPR98 Tyr2232Cys Y2232C not reviewed Insufficiently evaluated not reviewed unknown Array rs10037067 3003 9518 0.315507 31 0 37 0 0 5 Y - - - - - - - - - - Y - - - 0.989 Y Y 6 Y 4 - 1 - - GPR98 Asn2345Ser N2345S not reviewed Insufficiently evaluated not reviewed unknown Array rs2366926 2782 9648 0.28835 28 0 34 0 0 5 Y - - - - - - - - - - Y - - - 0.999 Y Y 0 - 3 N - - GPR98 Asn2584Ser N2584S not reviewed Insufficiently evaluated not reviewed unknown Array rs1878878 7280 9902 0.735205 53 0 91 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - GPR98 Val3094Ile V3094I not reviewed Insufficiently evaluated not reviewed unknown Array rs13157270 634 9606 0.0660004 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - GPR98 Gly3248Asp G3248D not reviewed Insufficiently evaluated not reviewed unknown Array rs16869032 1360 9746 0.139544 19 0 21 0 0 - - - - - - - - - - - - Y - - - 0.961 Y Y 4 Y 3 N - - GPR98 Glu3471Lys E3471K not reviewed Insufficiently evaluated not reviewed unknown Array rs2366928 7224 9536 0.75755 53 0 92 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - GPR98 Glu3867Lys E3867K not reviewed Insufficiently evaluated not reviewed unknown Array rs10062026 2444 9786 0.249745 23 0 31 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - GPR98 Glu5344Gly E5344G not reviewed Insufficiently evaluated not reviewed unknown Array rs2438374 9094 9704 0.937139 54 0 103 0 0 1 Y - - - - - - - - - - Y - - - 0.003 Y Y 6 Y 2 N - - GPR98 Val5427Met V5427M not reviewed Insufficiently evaluated not reviewed unknown Array rs2438378 9598 9872 0.972245 56 0 108 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - GPR98 Val5876Ile V5876I not reviewed Insufficiently evaluated not reviewed unknown Array rs2247870 4272 9890 0.431951 35 0 50 0 0 3 Y - - - - - - - - - - Y - - - 0.94 Y Y -4 - 3 N - - GPR98 Met6159Val M6159V not reviewed Insufficiently evaluated not reviewed unknown Array 363 9634 0.0376791 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GPRASP1 Ala315Gly A315G not reviewed Insufficiently evaluated not reviewed unknown Array rs17339512 369 8761 0.0421185 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.743 - - 1 - 1 N - - GPRASP1 Pro1093Ser P1093S not reviewed Insufficiently evaluated not reviewed unknown Array rs2235804 629 8761 0.0717955 14 0 21 0 0 - - - - - - - - - - - - - - - - 0.401 - - 3 - 0 N - - GPRC5A Ser118Gly S118G not reviewed Insufficiently evaluated not reviewed unknown Array rs850932 589 10758 0.05475 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - GPRC5C Ile63Val I63V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPRC5C Ile96Val I96V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPRC5C Ile114Val I114V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPRC5C Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPRC5C Cys128Ser C128S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPRC5C Cys161Ser C161S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPRC5D Pro195Leu P195L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GPRC6A Ile599Thr I599T not reviewed Insufficiently evaluated not reviewed unknown Array rs35937022 2364 10758 0.219743 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPRC6A Ala492Glu A492E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - GPRC6A Ile144Arg I144R not reviewed Insufficiently evaluated not reviewed unknown Array rs28360548 3040 10758 0.28258 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 1 N - - GPRC6A Pro91Ser P91S not reviewed Insufficiently evaluated not reviewed unknown Array rs2274911 8082 10756 0.751395 52 0 80 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - GPRC6A Ser18Pro S18P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - GPRIN1 Gly549Ser G549S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPRIN1 Ser357Pro S357P not reviewed Insufficiently evaluated not reviewed unknown Array rs34285890 155 10758 0.0144079 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - GPRIN1 Met300Val M300V not reviewed Insufficiently evaluated not reviewed unknown Array rs6556276 10723 10758 0.996747 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPRIN2 Arg5His R5H not reviewed Insufficiently evaluated not reviewed unknown Array rs3127817 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - GPRIN2 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array rs4926045 4653 10750 0.432837 49 0 49 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - GPRIN2 Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array rs3127818 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - GPRIN2 Val47Met V47M not reviewed Insufficiently evaluated not reviewed unknown Array rs3127819 61 122 0.5 51 0 51 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 0 N - - GPRIN2 Trp91Arg W91R not reviewed Insufficiently evaluated not reviewed unknown Array rs3127820 59 118 0.5 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GPRIN2 Thr100Pro T100P not reviewed Insufficiently evaluated not reviewed unknown Array rs7090312 4578 10702 0.42777 48 0 47 0 0 - - - - - - - - - - - - - - - - 0.161 - - 4 Y 0 N - - GPRIN2 Ser104Gly S104G not reviewed Insufficiently evaluated not reviewed unknown Array rs71185249 9088 10702 0.849187 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPRIN2 Gly202Trp G202W not reviewed Insufficiently evaluated not reviewed unknown Array rs11204658 4736 10758 0.440231 38 0 38 0 0 - - - - - - - - - - - - - - - - 0.429 - - 7 Y 0 N - - GPRIN2 Ala233Ser A233S not reviewed Insufficiently evaluated not reviewed unknown Array rs11204659 4691 10758 0.436048 45 0 45 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - GPRIN2 Arg239Lys R239K not reviewed Insufficiently evaluated not reviewed unknown Array rs7895979 4503 10756 0.41865 45 0 45 0 0 - - - - - - - - - - - - - - - - 0.461 - - -3 - 0 N - - GPRIN2 Val241Met V241M not reviewed Insufficiently evaluated not reviewed unknown Array 728 10756 0.0676832 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - 0 - 0 N - - GPRIN2 Arg242Gly R242G not reviewed Insufficiently evaluated not reviewed unknown Array rs3127683 8152 10758 0.757762 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPRIN2 Ser328Cys S328C not reviewed Insufficiently evaluated not reviewed unknown Array rs4445576 2085 10758 0.193809 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.759 - - 3 - 0 N - - GPRIN2 Val348Leu V348L not reviewed Insufficiently evaluated not reviewed unknown Array rs4926046 3013 10758 0.280071 21 0 20 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 0 N - - GPRIN2 Val375Ala V375A not reviewed Insufficiently evaluated not reviewed unknown Array rs3127822 10237 10758 0.951571 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPRIN2 Leu400Pro L400P not reviewed Insufficiently evaluated not reviewed unknown Array rs3127823 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GPRIN2 Arg446His R446H not reviewed Insufficiently evaluated not reviewed unknown Array rs72780221 916 10130 0.0904245 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - GPRIN3 Ser751Arg S751R not reviewed Insufficiently evaluated not reviewed unknown Array rs34136184 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - GPRIN3 Arg746Lys R746K not reviewed Insufficiently evaluated not reviewed unknown Array rs17015286 671 10758 0.0623722 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GPRIN3 Val446Ala V446A not reviewed Insufficiently evaluated not reviewed unknown Array rs7653897 6510 10758 0.605131 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPRIN3 Arg439Lys R439K not reviewed Insufficiently evaluated not reviewed unknown Array 295 10758 0.0274215 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - GPRIN3 Pro390Ser P390S not reviewed Insufficiently evaluated not reviewed unknown Array rs11733183 337 10758 0.0313255 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - GPRIN3 Met389Leu M389L not reviewed Insufficiently evaluated not reviewed unknown Array 279 10758 0.0259342 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.713 - - -3 - 1 N - - GPRIN3 Ser382Pro S382P not reviewed Insufficiently evaluated not reviewed unknown Array rs28622301 889 10758 0.0826362 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPRIN3 Ser180Gly S180G not reviewed Insufficiently evaluated not reviewed unknown Array rs72869899 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.362 - - 2 - 1 N - - GPRIN3 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array rs11734353 338 10758 0.0314185 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPS2 Thr306Ala T306A not reviewed Insufficiently evaluated not reviewed unknown Array rs2292065 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 1 - 2 - - GPS2 Glu64Asp E64D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 1 - 1 - - GPSM1 Val8Ala V8A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPSM1 Ser391Leu S391L not reviewed Insufficiently evaluated not reviewed unknown Array 2372 10452 0.226942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GPSM1 Ser428Stop S428X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPSM1 Ala455Pro A455P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPSM2 Arg127Gln R127Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41279678 1072 10758 0.0996468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPSM2 Thr457Met T457M not reviewed Insufficiently evaluated not reviewed unknown Array 338 10758 0.0314185 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPSM2 Ser580Leu S580L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPT His14Asn H14N not reviewed Insufficiently evaluated not reviewed unknown Array rs1063739 4107 10754 0.381904 24 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 10 - - GPT Arg107Lys R107K not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.012 Y Y -3 - 2 N - - GPT2 Arg149Trp R149W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPT2 Arg249Trp R249W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - GPX1 Pro200Leu P200L not reviewed Insufficiently evaluated not reviewed unknown Array rs1050450 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPX4 Ser131Gly S131G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPX4 Ser168Gly S168G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPX5 Leu85Val L85V not reviewed Insufficiently evaluated not reviewed unknown Array rs769188 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 3 - 5 - - GPX5 Leu85Pro L85P not reviewed Insufficiently evaluated not reviewed unknown Array rs58554303 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 3 - - GPX6 Val140Met V140M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - GPX6 Tyr72Asn Y72N not reviewed Insufficiently evaluated not reviewed unknown Array 549 10090 0.0544103 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 3 - - GPX6 Tyr53His Y53H not reviewed Insufficiently evaluated not reviewed unknown Array 152 10066 0.0151003 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPX6 Phe13Leu F13L not reviewed Insufficiently evaluated not reviewed unknown Array rs406113 4275 9984 0.428185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPX8 Lys182Arg K182R not reviewed Insufficiently evaluated not reviewed unknown Array rs381852 9079 10758 0.84393 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GRAMD1C Ala89Ser A89S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - GRAMD2 Tyr329His Y329H not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - GRAMD2 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs34815962 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 1 - 1 - - GRAMD3 Arg32Thr R32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRAMD3 Glu76Lys E76K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRAMD4 Val40Leu V40L not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRAMD4 Gly175Arg G175R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - GRASP Leu91Phe L91F not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 0 - 2 - 2 - - GRASP Gly362Ser G362S not reviewed Insufficiently evaluated not reviewed unknown Array 46 9172 0.00501526 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 2 - 1 - - GRB10 Pro37Ser P37S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRB10 Pro95Ser P95S benign Insufficiently evaluated benign dominant Array 0 0 0 2 2 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 10 - - Reported causative for Russel-Silver Syndrome, but some have questioned this assertion. GRB10 Pro32Thr P32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GRB10 Pro90Thr P90T not reviewed Insufficiently evaluated not reviewed unknown Array rs73697054 71 10300 0.0068932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 4 Y 0 N - - GRB14 Phe90Ile F90I not reviewed Insufficiently evaluated not reviewed unknown Array rs61748245 5591 10758 0.519706 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - GREB1 Asn77Thr N77T not reviewed Insufficiently evaluated not reviewed unknown Array rs10929757 4466 10758 0.415133 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.129 - - 1 - 0 N - - GREB1 Val122Ala V122A not reviewed Insufficiently evaluated not reviewed unknown Array rs4669751 3062 10758 0.284625 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GREB1 Thr181Asn T181N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - GREB1 Gly277Ser G277S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - GREB1 Val346Met V346M not reviewed Insufficiently evaluated not reviewed unknown Array rs6744817 980 10758 0.091095 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GREB1 Phe359Leu F359L not reviewed Insufficiently evaluated not reviewed unknown Array rs35188552 1583 10758 0.147146 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.529 - - 0 - 0 N - - GREB1 Ala632Thr A632T not reviewed Insufficiently evaluated not reviewed unknown Array rs36030386 2434 10196 0.238721 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GREB1 Glu1144Lys E1144K not reviewed Insufficiently evaluated not reviewed unknown Array rs73175262 120 10382 0.0115585 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.463 - - 0 - 1 N - - GREB1 Leu1204Phe L1204F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - GREB1 Ser1226Leu S1226L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - GREB1 Ala1236Thr A1236T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10606 0.00631718 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GREB1 Ser1528Thr S1528T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - -2 - 2 N - - GREB1 Ser1528Arg S1528R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 2 N - - GREB1 Asp1687Asn D1687N not reviewed Insufficiently evaluated not reviewed unknown Array rs2304402 5040 10528 0.478723 41 0 56 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GREM1 Pro35Ala P35A not reviewed Insufficiently evaluated not reviewed unknown Array 27 10738 0.00251443 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - GRHL1 Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array rs16867256 2308 10758 0.214538 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRHL1 Val397Ile V397I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303920 2675 10758 0.248652 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GRHL3 Asp55Glu D55E not reviewed Insufficiently evaluated not reviewed unknown Array rs2486668 1939 10758 0.180238 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GRHL3 Asp60Glu D60E not reviewed Insufficiently evaluated not reviewed unknown Array rs2486668 22 128 0.171875 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GRHL3 Thr361Met T361M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRHL3 Thr454Met T454M not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GRHL3 Thr459Met T459M not reviewed Insufficiently evaluated not reviewed unknown Array rs41268753 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRHPR Arg96Cys R96C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - GRHPR Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12002324 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 0 - 2 N - - GRIA1 Val490Gly V490G not reviewed Insufficiently evaluated not reviewed unknown Array 61 10740 0.0056797 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 3 - 1 - - GRIA2 Thr243Lys T243K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.429 - - 3 - 1 N - - GRIA2 Thr290Lys T290K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - GRIA4 Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRID1 Met430Val M430V not reviewed Insufficiently evaluated not reviewed unknown Array rs3812645 702 10758 0.0652538 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - GRID1 Asn259Ser N259S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - GRID1 Asn259Asp N259D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - GRID2 Thr68Met T68M not reviewed Insufficiently evaluated not reviewed unknown Array rs34144324 5 128 0.0390625 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRID2 Met193Val M193V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745072 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRID2 Val490Ile V490I not reviewed Insufficiently evaluated not reviewed unknown Array rs10034345 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GRID2IP Pro753Leu P753L not reviewed Insufficiently evaluated not reviewed unknown Array 322 3184 0.101131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GRID2IP Pro613Leu P613L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRID2IP Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 224 1140 0.196491 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GRID2IP Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11761490 279 3218 0.0866998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRIK1 Leu902Ser L902S not reviewed Insufficiently evaluated not reviewed unknown Array rs363504 794 9532 0.0832984 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GRIK1 Ile435Thr I435T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIK1 Ile450Thr I450T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.601 - - 3 - 1 N - - GRIK2 Leu76His L76H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GRIK2 Thr77Ala T77A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.908 - - 1 - 2 N - - GRIK3 Ser310Ala S310A not reviewed Insufficiently evaluated not reviewed unknown Array rs6691840 3877 10758 0.360383 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GRIK4 Ala167Gly A167G not reviewed Insufficiently evaluated not reviewed unknown Array rs41297895 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIK4 Glu666Asp E666D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GRIN1 Glu522Asp E522D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - -2 - 2 N - - GRIN2A Pro1442Ala P1442A not reviewed Insufficiently evaluated not reviewed unknown Array rs59975221 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - GRIN2A Gly784Ala G784A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - GRIN2C Arg1209Ser R1209S not reviewed Insufficiently evaluated not reviewed unknown Array rs3744215 3150 10754 0.292914 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GRIN2C Glu1048Lys E1048K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - GRIN2D Pro580Ser P580S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - GRIN3A Asn1073Ile N1073I not reviewed Insufficiently evaluated not reviewed unknown Array rs62000403 465 10758 0.0432236 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRIN3A Asn1062Ser N1062S not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRIN3A Pro1047Leu P1047L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRIN3A Arg1041Gln R1041Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3739722 1715 10758 0.159416 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRIN3A Asp835Asn D835N not reviewed Insufficiently evaluated not reviewed unknown Array rs35768024 1742 10758 0.161926 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GRIN3A Lys488Glu K488E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRIN3A Gly487Arg G487R not reviewed Insufficiently evaluated not reviewed unknown Array rs10989589 3551 10758 0.33008 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GRIN3A Arg480Gly R480G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRIN3A Val362Met V362M not reviewed Insufficiently evaluated not reviewed unknown Array rs10989591 3958 10758 0.367912 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRIN3B His117Tyr H117Y not reviewed Insufficiently evaluated not reviewed unknown Array 643 2452 0.262235 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - -1 - 0 N - - GRIN3B Thr157Met T157M not reviewed Insufficiently evaluated not reviewed unknown Array rs2240154 1049 10464 0.100248 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.938 - - 2 - 1 N - - GRIN3B Asp173Glu D173E not reviewed Insufficiently evaluated not reviewed unknown Array rs35592366 933 10560 0.0883523 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - GRIN3B Arg246His R246H not reviewed Insufficiently evaluated not reviewed unknown Array rs55646937 402 9212 0.0436387 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - GRIN3B Ala319Thr A319T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744452 297 6902 0.043031 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIN3B Gly358Asp G358D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - GRIN3B Leu396Ser L396S not reviewed Insufficiently evaluated not reviewed unknown Array rs12978900 220 10662 0.020634 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - GRIN3B Arg404Trp R404W not reviewed Insufficiently evaluated not reviewed unknown Array rs4807399 5140 10702 0.480284 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 1 N - - GRIN3B Trp414Arg W414R not reviewed Insufficiently evaluated not reviewed unknown Array rs2240157 7902 10718 0.737264 43 0 70 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GRIN3B Ala458Thr A458T not reviewed Insufficiently evaluated not reviewed unknown Array 385 10742 0.0358406 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - GRIN3B Arg524Trp R524W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GRIN3B Thr577Met T577M not reviewed Insufficiently evaluated not reviewed unknown Array rs2240158 4671 10758 0.434189 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GRIN3B Arg610His R610H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GRIN3B Thr612Ala T612A not reviewed Insufficiently evaluated not reviewed unknown Array rs60621387 393 10758 0.036531 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 1 - 1 N - - GRIN3B Arg643Cys R643C not reviewed Insufficiently evaluated not reviewed unknown Array 395 10758 0.0367169 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - GRIN3B Ala845Thr A845T not reviewed Insufficiently evaluated not reviewed unknown Array rs2285906 1370 10754 0.127394 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 1 - 7 - - GRIN3B Tyr966Asn Y966N not reviewed Insufficiently evaluated not reviewed unknown Array 1597 4738 0.337062 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GRIN3B Gln1006Glu Q1006E not reviewed Insufficiently evaluated not reviewed unknown Array rs10401245 3275 4818 0.679743 16 0 23 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - GRIN3B Pro1039Arg P1039R not reviewed Insufficiently evaluated not reviewed unknown Array rs10401454 1626 7130 0.22805 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GRINL1A Pro13Leu P13L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - GRIP1 Phe838Leu F838L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRIP1 Gln769Glu Q769E not reviewed Insufficiently evaluated not reviewed unknown Array rs7970387 9012 10134 0.889284 52 0 89 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GRIP2 Arg436Ser R436S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIP2 Leu388Pro L388P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRIP2 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array rs17316876 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GRIP2 Asp12Asn D12N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRIP2 Thr7Ile T7I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIPAP1 Glu249Gly E249G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRIPAP1 Glu302Gly E302G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 6 Y 1 N - - GRK4 Arg33Leu R33L not reviewed Insufficiently evaluated not reviewed unknown Array rs2960306 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRK4 Arg65Leu R65L not reviewed Insufficiently evaluated not reviewed unknown Array rs2960306 4314 10758 0.401004 36 0 44 0 0 - - - - - - - - - - - - - - - - 0.019 - - 6 Y 0 N - - GRK4 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array rs1024323 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRK4 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs1024323 4834 10758 0.44934 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GRK4 Val215Ile V215I not reviewed Insufficiently evaluated not reviewed unknown Array rs1140085 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRK4 Val247Ile V247I not reviewed Insufficiently evaluated not reviewed unknown Array rs1140085 1013 10758 0.0941625 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.11 - - -4 - 0 N - - GRK4 Val454Ala V454A not reviewed Insufficiently evaluated not reviewed unknown Array rs1801058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRK4 Val486Ala V486A not reviewed Insufficiently evaluated not reviewed unknown Array rs1801058 7331 10758 0.681446 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GRK5 Gln41Leu Q41L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17098707 1069 10758 0.0993679 16 0 17 1 1 3 Y - - - - - - - - - - - - - Y 0.016 - - 5 Y 1 N - - GRK5 Arg304His R304H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230349 786 10758 0.0730619 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 1 N - - GRK5 Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.346 - - 2 - 2 - 1 - - GRK6 Ala292Thr A292T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10754 0.00260368 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.216 - - 1 - 1 N - - GRK7 Asp72Tyr D72Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - GRK7 Cys134Tyr C134Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.333 - - 6 Y 1 N - - GRK7 Glu443Gly E443G not reviewed Insufficiently evaluated not reviewed unknown Array rs36009541 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GRK7 Pro460Thr P460T not reviewed Insufficiently evaluated not reviewed unknown Array rs33928105 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.419 - - 4 Y 0 N - - GRM1 Ser993Pro S993P not reviewed Insufficiently evaluated not reviewed unknown Array rs6923492 6367 10758 0.591839 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GRM2 Leu12Pro L12P not reviewed Insufficiently evaluated not reviewed unknown Array 344 10754 0.0319881 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 1 - 2 - - GRM2 Asn439Ser N439S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - GRM5 Thr453Met T453M not reviewed Insufficiently evaluated not reviewed unknown Array rs61741175 298 10756 0.0277055 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRM5 Phe137Ser F137S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - GRM6 Ala807Val A807V not reviewed Insufficiently evaluated not reviewed unknown Array rs17078874 770 10756 0.0715879 9 0 9 0 0 - - - - - - - - - - - - Y - - - 0.418 Y - 2 - 2 - 1 - - GRM6 Gly753Ser G753S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.281 Y - 2 - 2 N - - GRM6 Met712Val M712V not reviewed Insufficiently evaluated not reviewed unknown Array rs17078877 245 10750 0.0227907 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - GRM6 Gln59Pro Q59P not reviewed Insufficiently evaluated not reviewed unknown Array rs2645329 3865 6274 0.616034 2 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 - 1 - - GRM7 Tyr433Phe Y433F not reviewed Insufficiently evaluated not reviewed unknown Array rs2229902 3444 10758 0.320134 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - GRM8 Pro512Ala P512A not reviewed Insufficiently evaluated not reviewed unknown Array rs61753365 238 10758 0.0221231 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GRM8 Phe362Tyr F362Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61755380 985 10758 0.0915598 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - GRP Arg4Ser R4S not reviewed Insufficiently evaluated not reviewed unknown Array rs1062557 6959 8544 0.81449 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GRPEL1 Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRPEL1 Ser12Asn S12N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GRPEL1 Gln4Pro Q4P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.247 - - 4 Y 1 N - - GRRP1 His53Arg H53R not reviewed Insufficiently evaluated not reviewed unknown Array rs3748856 2168 9782 0.221632 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.29 - - 1 - 0 N - - GRSF1 Ser95Pro S95P not reviewed Insufficiently evaluated not reviewed unknown Array rs6813092 1598 1612 0.991315 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GRTP1 Ser259Leu S259L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GRTP1 Ala217Gly A217G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 1 - 0 N - - GRWD1 Arg319Gln R319Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302951 1682 10758 0.156349 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRXCR1 Glu9Lys E9K not reviewed Insufficiently evaluated not reviewed unknown Array 1068 10154 0.10518 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 0 N - - GRXCR1 Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array rs57655409 550 10050 0.0547264 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - GRXCR1 Gly91Val G91V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10096 0.00277338 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GRXCR2 Leu181Phe L181F not reviewed Insufficiently evaluated not reviewed unknown Array rs2569006 7235 10758 0.672523 49 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRXCR2 Gly98Asp G98D not reviewed Insufficiently evaluated not reviewed unknown Array rs71594518 614 10758 0.0570738 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 0 N - - GRXCR2 Leu58Phe L58F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRXCR2 Ser52Asn S52N not reviewed Insufficiently evaluated not reviewed unknown Array rs34892428 614 10758 0.0570738 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.88 - - 0 - 1 N - - GRXCR2 Glu43Gly E43G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 2 N - - GSC2 Arg47Cys R47C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 8 Y 0 N - - GSDMA Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3894194 4017 10016 0.401058 37 0 47 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - GSDMA Val128Leu V128L not reviewed Insufficiently evaluated not reviewed unknown Array rs7212938 6130 10132 0.605014 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GSDMA Glu130Lys E130K not reviewed Insufficiently evaluated not reviewed unknown Array rs7212944 3328 10124 0.328724 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 0 N - - GSDMA Thr314Asn T314N not reviewed Insufficiently evaluated not reviewed unknown Array rs56030650 4160 9722 0.427895 39 0 48 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 1 N - - GSDMB Arg308Cys R308C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - GSDMB Arg317Cys R317C not reviewed Insufficiently evaluated not reviewed unknown Array rs16965388 422 10758 0.0392266 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - GSDMB Pro289Ser P289S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2305480 1 0 1 1 1 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - GSDMB Pro298Ser P298S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305480 3669 10758 0.341049 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GSDMB Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305479 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSDMB Gly291Arg G291R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305479 4071 10758 0.378416 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GSDMB Asp228Gly D228G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GSDMB Asp237Gly D237G not reviewed Insufficiently evaluated not reviewed unknown Array rs35104165 291 10758 0.0270496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GSDMB Glu122Gly E122G not reviewed Insufficiently evaluated not reviewed unknown Array rs12450091 29 10758 0.00269567 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.526 - - 6 Y 2 - 2 - - GSDMC Met475Thr M475T not reviewed Insufficiently evaluated not reviewed unknown Array rs4144738 6475 10758 0.601878 43 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GSDMC Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array rs73406822 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - GSDMC Arg150Lys R150K not reviewed Insufficiently evaluated not reviewed unknown Array rs16904151 241 10758 0.0224019 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - GSDMC Pro23Ser P23S not reviewed Insufficiently evaluated not reviewed unknown Array rs10090835 362 10758 0.0336494 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 2 - - GSDMD Gln396Arg Q396R not reviewed Insufficiently evaluated not reviewed unknown Array 245 10722 0.0228502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - 0 - 1 N - - GSG1 Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array rs2306765 109 10758 0.010132 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - GSG1 Phe52Leu F52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GSG2 Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array rs9907144 6023 10140 0.593984 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GSG2 Gly204Asp G204D not reviewed Insufficiently evaluated not reviewed unknown Array rs220462 2583 10758 0.2401 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GSG2 Ile328Thr I328T not reviewed Insufficiently evaluated not reviewed unknown Array rs220461 2539 10758 0.23601 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GSG2 Val378Ala V378A not reviewed Insufficiently evaluated not reviewed unknown Array rs3809806 6233 10758 0.579383 43 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GSG2 Asn422Asp N422D not reviewed Insufficiently evaluated not reviewed unknown Array rs7223226 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - GSG2 Arg486Leu R486L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSN Ala127Val A127V not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.726 Y - 2 - 3 - 2 - - GSN Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 3 - - GSN Ala87Val A87V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 3 - - GSN Ala129Thr A129T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230287 163 10758 0.0151515 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 1 - 4 - 1 - - GSN Ala78Thr A78T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 5 - - GSN Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 2 - - GSN Val128Met V128M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GSN Val139Met V139M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GSN Val179Met V179M not reviewed Insufficiently evaluated not reviewed unknown Array rs41305623 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.564 Y - 0 - 2 N - - GSN Asn180Asp N180D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - GSN Asn191Asp N191D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - GSN Asn231Asp N231D not reviewed Insufficiently evaluated not reviewed unknown Array rs11550199 159 10758 0.0147797 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - GSN Gly505Arg G505R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - GSN Gly516Arg G516R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - GSN Gly556Arg G556R not reviewed Insufficiently evaluated not reviewed unknown Array rs58750568 7 10754 0.00065092 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.886 Y - 6 Y 3 N - - GSPT1 Val100Ala V100A not reviewed Insufficiently evaluated not reviewed unknown Array 6836 6906 0.989864 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GSPT1 Gly92Cys G92C not reviewed Insufficiently evaluated not reviewed unknown Array 3516 7690 0.457217 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - GSR Ile357Val I357V not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - GSR Arg153Cys R153C not reviewed Insufficiently evaluated not reviewed unknown Array rs8190955 336 10758 0.0312326 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.343 - - 8 Y 1 N - - GSTA1 Lys64Met K64M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734623 56 10752 0.00520833 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - GSTA2 Glu210Ala E210A not reviewed Insufficiently evaluated not reviewed unknown Array rs6577 2658 10758 0.247072 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GSTA2 Ser112Thr S112T not reviewed Insufficiently evaluated not reviewed unknown Array rs2180314 5343 10758 0.496654 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GSTA2 Glu32Lys E32K not reviewed Insufficiently evaluated not reviewed unknown Array 54 10752 0.00502232 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 3 - 1 - - GSTA3 Asn73Asp N73D not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - -1 - 2 N - - GSTA3 Ile71Leu I71L not reviewed Insufficiently evaluated not reviewed unknown Array rs1052661 480 10758 0.044618 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.963 - - -2 - 2 N - - GSTA5 Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array rs2397118 10023 10758 0.931679 53 0 98 0 0 - - - - - - - - - - - - - - - - 0.462 - - -4 - 0 N - - GSTCD Leu152Arg L152R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 6 Y 1 N - - GSTCD Leu239Arg L239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - GSTCD Met413Ile M413I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GSTCD Met500Ile M500I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736397 40 9402 0.00425441 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.684 - - -1 - 1 N - - GSTM1 Lys173Asn K173N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1065411 2326 8816 0.263838 8 0 14 1 1 - - - - - - - - - - - - Y - - Y - Y - 1 - 3 N 7 - - GSTM1 Ser173Thr S173T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - GSTM1 Ser210Thr S210T not reviewed Insufficiently evaluated not reviewed unknown Array rs449856 33 56 0.589286 12 0 23 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 1 - - GSTM2 Thr210Ser T210S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - GSTM3 Val224Ile V224I not reviewed Insufficiently evaluated not reviewed unknown Array rs7483 2498 10758 0.232199 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GSTM3 Ile173Val I173V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSTM5 Lys173Asn K173N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GSTM5 Leu179Pro L179P not reviewed Insufficiently evaluated not reviewed unknown Array rs2227963 1372 10758 0.127533 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GSTO1 Ala140Asp A140D not reviewed Insufficiently evaluated not reviewed unknown Array rs4925 2554 10758 0.237405 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GSTO1 Glu208Lys E208K not reviewed Insufficiently evaluated not reviewed unknown Array rs11509438 318 10758 0.0295594 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - GSTO2 Asn142Asp N142D not reviewed Insufficiently evaluated not reviewed unknown Array rs156697 5119 10758 0.475832 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GSTP1 Ile105Val I105V pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs1695 3710 10318 0.359566 25 0 29 2 2 - - - - - - - - - - - - - - - Y - - - -4 - 1 N - - Hematological toxicity with fluoruracil. GSTP1 Ala114Val A114V pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs1138272 636 10292 0.0617956 3 0 3 1 1 - - - - - - - - - - - - - - - Y 0.018 - - 2 - 1 N - - Increased exposure to thiotepa. GSTT1 Glu204Asp E204D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 1 - - GSTT1 Glu204Lys E204K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GSTT1 Val169Ile V169I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2266637 496 8800 0.0563636 4 0 7 1 1 - - - - - - - - - - - - - - - Y 0.023 - - -4 - 1 N - - GSTT1 Thr104Pro T104P not reviewed Insufficiently evaluated not reviewed unknown Array 24 8692 0.00276116 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 4 Y 1 - 10 - - GSTT1 Cys14Ser C14S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.839 - - 3 - 2 - 2 - - GSTT2 Met139Ile M139I not reviewed Insufficiently evaluated not reviewed unknown Array 167 9780 0.0170757 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 1 - 4 - - GSTT2 Val118Met V118M not reviewed Insufficiently evaluated not reviewed unknown Array 1244 10750 0.115721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - GSTT2 Lys129Glu K129E not reviewed Insufficiently evaluated not reviewed unknown Array rs140195 2979 7316 0.40719 15 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GSTT2B Met139Ile M139I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GSTZ1 Glu32Lys E32K not reviewed Insufficiently evaluated not reviewed unknown Array rs7975 3383 10758 0.314464 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GSTZ1 Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array rs7972 654 10756 0.0608033 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GSTZ1 Met27Thr M27T not reviewed Insufficiently evaluated not reviewed unknown Array rs1046428 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GSTZ1 Met82Thr M82T not reviewed Insufficiently evaluated not reviewed unknown Array rs1046428 9055 10758 0.841699 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GSX2 Gly107Ser G107S not reviewed Insufficiently evaluated not reviewed unknown Array rs13144341 9266 9312 0.99506 10 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GTDC1 Met200Val M200V not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GTDC1 Met137Ile M137I not reviewed Insufficiently evaluated not reviewed unknown Array rs3731958 6189 10756 0.5754 48 0 79 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GTDC1 Tyr10Cys Y10C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - GTF2A1L Asn259Asp N259D not reviewed Insufficiently evaluated not reviewed unknown Array rs10432667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTF2A1L Thr339Ala T339A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GTF2A1L Ala444Thr A444T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTF2E1 Pro366Ser P366S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732401 344 10758 0.0319762 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - GTF2F1 Ser436Leu S436L not reviewed Insufficiently evaluated not reviewed unknown Array rs73563878 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - GTF2F1 Lys105Thr K105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - GTF2F1 Lys105Stop K105X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GTF2H4 Arg337Gln R337Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 7524 0.00903775 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 4 - - GTF2IRD1 Met652Val M652V not reviewed Insufficiently evaluated not reviewed unknown Array rs2301895 4036 10758 0.375163 40 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GTF2IRD1 Ser891Leu S891L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTF2IRD1 Ser906Leu S906L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTF2IRD2 Lys612Arg K612R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.337 - - -3 - 1 N - - GTF2IRD2 His514Asn H514N not reviewed Insufficiently evaluated not reviewed unknown Array rs2529318 5933 7994 0.742182 45 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GTF3A Lys130Asn K130N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 2 N - - GTF3A Val245Leu V245L not reviewed Insufficiently evaluated not reviewed unknown Array rs7323 1956 7820 0.250128 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 1 N - - GTF3C1 Glu2077Lys E2077K not reviewed Insufficiently evaluated not reviewed unknown Array rs2228248 1189 10758 0.110522 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 0 N - - GTF3C1 Phe1959Ser F1959S not reviewed Insufficiently evaluated not reviewed unknown Array rs12919017 1204 10758 0.111917 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.023 - - 5 Y 0 N - - GTF3C1 Gly1900Arg G1900R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTF3C1 Gln1889Glu Q1889E not reviewed Insufficiently evaluated not reviewed unknown Array rs35233306 96 10754 0.00892691 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 1 - 2 - - GTF3C1 Arg1858Gly R1858G not reviewed Insufficiently evaluated not reviewed unknown Array 40 10662 0.00375164 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - GTF3C1 Pro857Leu P857L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - GTF3C2 Met737Thr M737T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - GTF3C2 Ala411Gly A411G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - GTF3C3 Pro809Leu P809L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 7 Y 0 N - - GTF3C3 Asn70Ser N70S not reviewed Insufficiently evaluated not reviewed unknown Array rs11559078 1109 10758 0.103086 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GTF3C5 Phe467Leu F467L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - GTF3C5 Phe474Leu F474L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GTPBP1 Ser413Leu S413L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GTPBP1 Cys669Trp C669W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - GTPBP10 Cys88Trp C88W not reviewed Insufficiently evaluated not reviewed unknown Array rs42663 8307 10756 0.772313 53 0 88 0 0 - - - - - - - - - - - - - - - - 0.954 - - 7 Y 1 N - - GTPBP10 Cys88Stop C88X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - GTPBP10 Asn110Ser N110S not reviewed Insufficiently evaluated not reviewed unknown Array rs42664 5388 10756 0.50093 39 0 55 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - GTPBP10 Leu164Phe L164F not reviewed Insufficiently evaluated not reviewed unknown Array rs35001814 1154 10756 0.107289 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 1 N - - GTPBP10 Leu85Phe L85F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GTPBP10 Met289Ile M289I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP10 Met368Ile M368I not reviewed Insufficiently evaluated not reviewed unknown Array rs17863999 2302 10758 0.21398 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - GTPBP2 Gly29Ala G29A not reviewed Insufficiently evaluated not reviewed unknown Array 442 10722 0.0412237 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - GTPBP3 Val250Ala V250A not reviewed Insufficiently evaluated not reviewed unknown Array rs3810206 8161 10756 0.758739 38 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GTPBP3 Val282Ala V282A not reviewed Insufficiently evaluated not reviewed unknown Array rs3810206 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GTPBP3 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GTPBP3 Val353Ile V353I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GTPBP3 Val385Ile V385I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GTPBP3 Arg347His R347H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - GTPBP3 Arg368His R368H not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - GTPBP3 Arg400His R400H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - GTPBP4 Asp232Ala D232A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - GTPBP4 Arg525His R525H not reviewed Insufficiently evaluated not reviewed unknown Array rs3207775 925 10758 0.0859825 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - GTPBP5 Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array rs41284984 351 10758 0.0326269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GTPBP5 Gly47Ser G47S not reviewed Insufficiently evaluated not reviewed unknown Array rs6062133 1506 10758 0.139989 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GTPBP5 Ala337Val A337V not reviewed Insufficiently evaluated not reviewed unknown Array rs35693261 375 10758 0.0348578 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - GTPBP6 Gly271Arg G271R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTPBP6 Gln41Stop Q41X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GTPBP8 Gln209His Q209H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP8 Gln242His Q242H not reviewed Insufficiently evaluated not reviewed unknown Array rs1054263 641 10750 0.0596279 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.707 - - -1 - 0 N - - GTSE1 Thr200Ala T200A not reviewed Insufficiently evaluated not reviewed unknown Array 1986 10740 0.184916 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GTSE1 Gly294Arg G294R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTSE1 Ser341Asn S341N not reviewed Insufficiently evaluated not reviewed unknown Array 1863 10758 0.173173 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GTSE1 Asp482Glu D482E not reviewed Insufficiently evaluated not reviewed unknown Array 1750 10758 0.16267 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GTSE1 Ala524Thr A524T not reviewed Insufficiently evaluated not reviewed unknown Array 269 10758 0.0250046 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTSE1 Trp525Arg W525R not reviewed Insufficiently evaluated not reviewed unknown Array rs140054 10117 10758 0.940416 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GTSE1 Arg597Thr R597T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GTSE1 Ala654Thr A654T not reviewed Insufficiently evaluated not reviewed unknown Array 372 10758 0.0345789 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GUCA1C Met85Val M85V not reviewed Insufficiently evaluated not reviewed unknown Array rs6804162 4046 10754 0.376232 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GUCA1C Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array rs2715687 7589 10748 0.706085 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GUCA2A Ser7Phe S7F not reviewed Insufficiently evaluated not reviewed unknown Array rs2071499 4694 10402 0.451259 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GUCA2B Pro11Thr P11T not reviewed Insufficiently evaluated not reviewed unknown Array rs2297567 1943 10758 0.18061 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GUCY1A3 Val25Ile V25I not reviewed Insufficiently evaluated not reviewed unknown Array rs2170646 357 10758 0.0331846 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GUCY1A3 Glu57Ala E57A not reviewed Insufficiently evaluated not reviewed unknown Array rs61736997 494 10758 0.0459193 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GUCY2C Phe281Leu F281L not reviewed Insufficiently evaluated not reviewed unknown Array rs1420635 10617 10758 0.986893 48 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GUCY2D Trp21Arg W21R benign Insufficiently evaluated benign unknown Array 265 6200 0.0427419 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.033 Y Y 7 Y 3 - 6 - - GUCY2D Ala52Ser A52S benign Low clinical importance, Uncertain benign recessive Array rs61749665 1659 7894 0.21016 1 0 1 1 1 1 Y - - 0 Y 0 Y - - - - Y Y - - 0.026 Y Y -1 - 4 N 8 0 0 One publication suggested that this variant possibly causes Leber's congenital amaurosis in a recessive manner, but the frequency data (36% in 1000 genomes) contradicts any significant pathogenic effect. GUCY2D Pro575Leu P575L not reviewed Insufficiently evaluated not reviewed unknown Array rs28743021 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 7 Y 5 - 9 - - GUCY2D Pro701Ser P701S pathogenic Insufficiently evaluated pathogenic recessive Array rs34598902 268 10758 0.0249117 8 0 8 3 3 1 Y - - 1 Y 0 Y 1 Y 2 Y Y - - - 0.183 Y Y 3 - Leber Congenital Amaurosis 13 610 1 199 4.241 3 - 10 - - Although other variants in this gene have been implicated in causing Leber Congenital Amaurosis, Vallespin et al. observe that this variant has a frequency in control population is not significantly different from that in patients. They conclude that this is likely a benign polymorphism and not disease-causing, but it's possible it has a modifier effect that increases susceptibility to the disease. GUCY2D Leu782His L782H not reviewed Insufficiently evaluated not reviewed unknown Array rs8069344 2322 10758 0.215839 24 0 29 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 2 - - GUCY2F Arg1044Stop R1044X not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GUCY2F Pro973Thr P973T not reviewed Insufficiently evaluated not reviewed unknown Array 11 8761 0.00125556 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - GUCY2F Val677Leu V677L not reviewed Insufficiently evaluated not reviewed unknown Array rs35474112 122 8761 0.0139254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.218 - - 0 - 2 - 2 - - GUCY2F Gln380His Q380H not reviewed Insufficiently evaluated not reviewed unknown Array rs2272925 417 8761 0.0475973 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GUCY2F Tyr324His Y324H not reviewed Insufficiently evaluated not reviewed unknown Array 7 8761 0.000798995 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - -1 - 0 N - - GUCY2F Tyr308Cys Y308C not reviewed Insufficiently evaluated not reviewed unknown Array rs16985750 100 8761 0.0114142 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.83 - - 6 Y 2 - 8 - - GUCY2F Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array rs502209 7719 8761 0.881064 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GUCY2F Leu284Pro L284P not reviewed Insufficiently evaluated not reviewed unknown Array rs12008095 2280 8761 0.260244 13 0 20 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 1 N - - GUCY2F Arg230Trp R230W not reviewed Insufficiently evaluated not reviewed unknown Array rs33973457 52 8761 0.0059354 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.76 - - 7 Y 1 N - - GUCY2F Ile160Asn I160N not reviewed Insufficiently evaluated not reviewed unknown Array rs33971675 52 8761 0.0059354 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GUF1 Leu58Pro L58P not reviewed Insufficiently evaluated not reviewed unknown Array rs6447368 5804 10758 0.539505 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GUSB Leu649Pro L649P not reviewed Insufficiently evaluated not reviewed unknown Array rs9530 5215 10758 0.484756 45 0 64 0 0 3 Y - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - GYG1 Val257Leu V257L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GYG1 Leu258Ile L258I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - GYG2 Ala239Val A239V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GYG2 Ala270Val A270V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306734 5289 8759 0.603836 35 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GYG2 His282Arg H282R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GYG2 His313Arg H313R not reviewed Insufficiently evaluated not reviewed unknown Array rs2306735 5150 8759 0.587967 34 0 60 0 0 - - - - - - - - - - - - - - - - 0.868 - - 1 - 1 N - - GYG2 Pro367Thr P367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GYG2 Pro398Thr P398T not reviewed Insufficiently evaluated not reviewed unknown Array rs58805501 144 8759 0.0164402 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 4 Y 1 N - - GYLTL1B Cys450Tyr C450Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - GYPA Leu20Ser L20S not reviewed Insufficiently evaluated not reviewed unknown Array rs71612486 2188 10352 0.21136 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GYPA Glu13Ala E13A not reviewed Insufficiently evaluated not reviewed unknown Array rs4449373 8520 10698 0.796411 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GYPB Ser84Thr S84T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GYPB Thr48Met T48M not reviewed Insufficiently evaluated not reviewed unknown Array rs7683365 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GYPE Gly13Glu G13E not reviewed Insufficiently evaluated not reviewed unknown Array rs28721877 8213 10756 0.763574 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GYS1 Met352Val M352V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GYS1 Met416Val M416V not reviewed Insufficiently evaluated not reviewed unknown Array rs5447 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.1 Y - 0 - 2 - 10 - - GYS2 Thr546Ala T546A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733199 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GYS2 Asp415Glu D415E not reviewed Insufficiently evaluated not reviewed unknown Array rs16924002 238 10750 0.0221395 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.62 Y - -2 - 3 - 1 - - GYS2 Arg386Gln R386Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 N - - GYS2 Met363Val M363V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306180 7949 10758 0.738892 53 0 82 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - GZF1 Asn190Ser N190S not reviewed Insufficiently evaluated not reviewed unknown Array rs3810574 20 10758 0.00185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.741 - - 0 - 2 - 3 - - GZF1 Gln275Pro Q275P not reviewed Insufficiently evaluated not reviewed unknown Array rs6048760 6143 10758 0.571017 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GZMA Met121Thr M121T not reviewed Insufficiently evaluated not reviewed unknown Array rs35912873 10411 10758 0.967745 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GZMA Trp153Leu W153L not reviewed Insufficiently evaluated not reviewed unknown Array rs2270627 2 10758 0.000185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - GZMA Met195Val M195V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730831 183 10758 0.0170106 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - GZMA Val242Ala V242A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - GZMB Tyr247His Y247H not reviewed Insufficiently evaluated not reviewed unknown Array rs2236338 2889 10756 0.268594 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - GZMB Pro94Ala P94A not reviewed Insufficiently evaluated not reviewed unknown Array rs11539752 1765 10758 0.164064 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GZMB Arg55Gln R55Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8192917 7556 10758 0.702361 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GZMH Arg84Gln R84Q not reviewed Insufficiently evaluated not reviewed unknown Array rs52812266 830 10758 0.0771519 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.464 - - 0 - 0 N - - GZMH Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - GZMM Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729586 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - GZMM Ala95Thr A95T not reviewed Insufficiently evaluated not reviewed unknown Array rs114537924 265 10756 0.0246374 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - GZMM Arg101Ser R101S not reviewed Insufficiently evaluated not reviewed unknown Array 330 10756 0.0306806 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.211 - - 3 - 1 N - - GZMM Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array 49 10644 0.00460353 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - GZMM Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59539774 243 10756 0.022592 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - GZMM Arg221Gly R221G not reviewed Insufficiently evaluated not reviewed unknown Array rs1599882 10685 10758 0.993214 56 0 111 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - H1FNT Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array 228 10752 0.0212054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 2 - 1 N - - H1FNT Arg84Gly R84G not reviewed Insufficiently evaluated not reviewed unknown Array rs2732441 2637 10752 0.245257 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - H1FNT Arg174Gln R174Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1471997 1861 10688 0.174121 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - H1FNT Ser237Phe S237F not reviewed Insufficiently evaluated not reviewed unknown Array rs2291483 2544 10706 0.237624 27 0 28 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - H1FOO Val6Ile V6I not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - H1FOO Ala149Thr A149T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737314 1048 10758 0.0974159 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - H1FOO Arg244Met R244M not reviewed Insufficiently evaluated not reviewed unknown Array 135 10418 0.0129583 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - H1FOO Asn296Ser N296S not reviewed Insufficiently evaluated not reviewed unknown Array rs59415528 607 10758 0.0564231 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.537 - - 0 - 0 N - - H2BFWT Arg123His R123H not reviewed Insufficiently evaluated not reviewed unknown Array rs553509 5629 8760 0.64258 35 0 57 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 1 N - - H2BFWT Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array 178 8761 0.0203173 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - H6PD Asp151Ala D151A not reviewed Insufficiently evaluated not reviewed unknown Array rs34603401 1179 10758 0.109593 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.292 Y Y 5 Y 2 N - - H6PD Arg453Gln R453Q pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs6688832 3323 10758 0.308886 31 0 39 3 3 ! Y 1 Y 3 - 0 Y 3 - - - - Y - - 0.004 Y Y 0 - 4 N 0 0 This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease). H6PD Pro554Leu P554L not reviewed Insufficiently evaluated not reviewed unknown Array rs17368528 950 10746 0.088405 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.966 Y Y 7 Y 3 N - - HAAO Tyr214Cys Y214C not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - HAAO Thr42Ser T42S not reviewed Insufficiently evaluated not reviewed unknown Array rs3816182 2482 10758 0.230712 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HAAO Ile37Val I37V not reviewed Insufficiently evaluated not reviewed unknown Array rs3816183 8567 10758 0.796338 56 0 88 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HABP2 Ser32Ile S32I not reviewed Insufficiently evaluated not reviewed unknown Array rs61867369 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - HACL1 Ser143Gly S143G not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - HADH Leu86Pro L86P not reviewed Insufficiently evaluated not reviewed unknown Array rs4956145 9113 10758 0.847091 56 0 91 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - HADHA Gln358Lys Q358K not reviewed Insufficiently evaluated not reviewed unknown Array rs2229420 246 10758 0.0228667 6 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - HADHA Val218Leu V218L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.943 Y - 0 - 3 N - - HADHA Leu130Ile L130I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - HADHB Lys277Arg K277R not reviewed Insufficiently evaluated not reviewed unknown Array rs57969630 78 10756 0.00725177 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - -3 - 1 N - - HADHB Val455Met V455M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.302 Y - 0 - 2 N - - HAGH Val17Leu V17L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAGH Val65Leu V65L not reviewed Insufficiently evaluated not reviewed unknown Array rs58542872 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - HAGHL Cys270Arg C270R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - HAL Pro598Leu P598L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - HAL Val549Met V549M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 3 N - - HAL Val439Ile V439I not reviewed Insufficiently evaluated not reviewed unknown Array rs7297245 9087 10758 0.844674 54 0 97 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - HAMP Thr84Ala T84A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.312 Y Y 1 - 3 N - - HAO2 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275607 5 128 0.0390625 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HAO2 Glu15Lys E15K not reviewed Insufficiently evaluated not reviewed unknown Array rs34638261 440 10758 0.0408998 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAP1 Ser591Stop S591X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - HAP1 Ser599Stop S599X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - HAP1 Ser616Stop S616X not reviewed Insufficiently evaluated not reviewed unknown Array 739 10756 0.0687058 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 1 - - HAP1 Phe483Leu F483L not reviewed Insufficiently evaluated not reviewed unknown Array rs8075017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - HAP1 Phe491Leu F491L not reviewed Insufficiently evaluated not reviewed unknown Array rs8075017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAP1 Phe508Leu F508L not reviewed Insufficiently evaluated not reviewed unknown Array rs8075017 9635 10758 0.895613 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HAP1 Ala480Val A480V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - HAP1 Ala488Val A488V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 2 - 2 - 3 - - HAP1 Ala505Val A505V not reviewed Insufficiently evaluated not reviewed unknown Array 413 10758 0.03839 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - HAP1 Thr416Met T416M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAP1 Thr424Met T424M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAP1 Thr441Met T441M not reviewed Insufficiently evaluated not reviewed unknown Array 1732 10758 0.160996 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HAP1 Leu408Phe L408F not reviewed Insufficiently evaluated not reviewed unknown Array rs35612698 3536 10758 0.328686 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 1 N - - HAP1 Ser357Leu S357L not reviewed Insufficiently evaluated not reviewed unknown Array rs4796693 7707 10758 0.716397 51 0 83 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 1 N - - HAP1 Ser365Leu S365L not reviewed Insufficiently evaluated not reviewed unknown Array rs4796693 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HAP1 Thr66Ala T66A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10730 0.00242311 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 1 - 4 - - HAP1 Ser58Thr S58T not reviewed Insufficiently evaluated not reviewed unknown Array rs4796603 7744 10736 0.721311 52 0 83 0 0 - - - - - - - - - - - - - - - - 0.738 - - -2 - 0 N - - HAP1 Cys25Tyr C25Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34106519 117 10628 0.0110087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 3 - 1 - - HAP1 Lys4Arg K4R not reviewed Insufficiently evaluated not reviewed unknown Array rs4796604 3729 9528 0.391373 31 0 42 0 0 - - - - - - - - - - - - - - - - 0.535 - - -3 - 0 N - - HAPLN1 Asn281Ser N281S not reviewed Insufficiently evaluated not reviewed unknown Array rs6864342 737 10758 0.0685072 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HARS Ala399Val A399V not reviewed Insufficiently evaluated not reviewed unknown Array rs34732372 59 10758 0.00548429 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 1 - 2 - - HARS Asp159Gly D159G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - HARS Ala5Glu A5E not reviewed Insufficiently evaluated not reviewed unknown Array 86 10756 0.00799554 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HAS1 Cys14Arg C14R not reviewed Insufficiently evaluated not reviewed unknown Array rs7248778 7663 10196 0.751569 25 0 41 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HAT1 Arg217Trp R217W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HAT1 Arg302Trp R302W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.344 - - 7 Y 1 N - - HAT1 Ala229Val A229V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAT1 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs73976541 263 10758 0.0244469 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - HAUS1 Arg128Cys R128C not reviewed Insufficiently evaluated not reviewed unknown Array 61 10752 0.00567336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HAUS1 Glu159Lys E159K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - HAUS3 Ile586Thr I586T not reviewed Insufficiently evaluated not reviewed unknown Array rs11937432 850 10582 0.0803251 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - HAUS3 Thr448Ile T448I not reviewed Insufficiently evaluated not reviewed unknown Array rs73796992 28 10754 0.00260368 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - HAUS5 Leu100Arg L100R not reviewed Insufficiently evaluated not reviewed unknown Array 101 10248 0.00985558 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 2 N - - HAUS5 Thr142Met T142M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10350 0.000193236 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - HAUS5 Ala277Asp A277D not reviewed Insufficiently evaluated not reviewed unknown Array rs2285412 411 9538 0.0430908 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.971 - - 5 Y 2 N - - HAUS5 Gln580Arg Q580R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747965 208 9940 0.0209256 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - HAUS6 Asp723Tyr D723Y not reviewed Insufficiently evaluated not reviewed unknown Array 56 10356 0.00540749 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - HAUS6 His674Gln H674Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10511670 890 10758 0.0827291 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - HAUS6 Lys481Arg K481R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.439 - - -3 - 1 N - - HAUS7 Thr244Ala T244A not reviewed Insufficiently evaluated not reviewed unknown Array 311 8761 0.0354982 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HAUS8 Ala340Val A340V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAUS8 Ala341Val A341V not reviewed Insufficiently evaluated not reviewed unknown Array rs57533879 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - HAUS8 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HAUS8 Gly83Arg G83R not reviewed Insufficiently evaluated not reviewed unknown Array rs1130222 4674 10758 0.434467 42 0 55 0 0 - - - - - - - - - - - - - - - - 0.693 - - 6 Y 0 N - - HAUS8 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAVCR1 Thr207Ala T207A not reviewed Insufficiently evaluated not reviewed unknown Array rs1553317 2478 10248 0.241803 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HAVCR1 Thr200Arg T200R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HAVCR1 Thr186Met T186M not reviewed Insufficiently evaluated not reviewed unknown Array rs73815912 208 10432 0.0199386 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAVCR1 Leu179Pro L179P not reviewed Insufficiently evaluated not reviewed unknown Array rs1553316 8931 10452 0.854478 39 0 70 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HAVCR1 Met158Ile M158I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HAVCR1 Met158Thr M158T not reviewed Insufficiently evaluated not reviewed unknown Array rs2862716 3172 9902 0.320339 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HAVCR2 Ile171Thr I171T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HAVCR2 Arg140Leu R140L not reviewed Insufficiently evaluated not reviewed unknown Array rs1036199 8738 10758 0.812233 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HBB Glu7Val E7V pathogenic High clinical importance, pathogenic recessive Array rs334 151 10758 0.0140361 6 0 6 11 11 5 Y 5 Y 5 Y 5 Y 4 Y 4 Y Y - - - 0.016 Y Y 5 Y 3 - 9 2 2 HB-S variant responsible for causing Sickle Cell Disease when homozygous (residue count follows p.HBB). This is often also referred to as E6V, referring to the position of the amino acid in the final protein product (the first amino acid is removed after translation). Heterozygotes have Sickle Cell Trait. HBE1 Lys96Glu K96E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - HBE1 Ile76Val I76V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HBG1 Thr76Ile T76I not reviewed Insufficiently evaluated not reviewed unknown Array rs1061234 2794 7770 0.359588 48 0 87 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HBQ1 Ala83Val A83V not reviewed Insufficiently evaluated not reviewed unknown Array 103 10396 0.00990766 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - 2 - 1 N - - HBQ1 Ala121Pro A121P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - HBS1L Ile442Val I442V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - HBS1L Ile484Val I484V not reviewed Insufficiently evaluated not reviewed unknown Array rs73774527 412 10758 0.0382971 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HBS1L Met132Val M132V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HBS1L Met174Val M174V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.717 - - 0 - 1 N - - HBS1L Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HBS1L Arg153Gln R153Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HBS1L Glu343Ala E343A not reviewed Insufficiently evaluated not reviewed unknown Array rs7742542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HBS1L Glu221Lys E221K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HBXIP Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array rs6698159 1339 10758 0.124466 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HBXIP Ser17Asn S17N not reviewed Insufficiently evaluated not reviewed unknown Array rs6674775 4729 10758 0.43958 34 0 39 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HCFC1 Ser1164Pro S1164P not reviewed Insufficiently evaluated not reviewed unknown Array rs1051152 2797 8245 0.339236 29 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HCFC1 Pro1079Leu P1079L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - HCFC1R1 Pro73Gln P73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HCFC1R1 Pro92Gln P92Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10508 2137 10756 0.19868 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.031 - - 4 Y 0 N - - HCFC2 Asn461Lys N461K not reviewed Insufficiently evaluated not reviewed unknown Array 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.742 - - 1 - 1 N - - HCG9 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array rs378971 55 114 0.482456 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HCG9 Ser26Thr S26T not reviewed Insufficiently evaluated not reviewed unknown Array rs422640 24 122 0.196721 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HCG9 Arg36Lys R36K not reviewed Insufficiently evaluated not reviewed unknown Array rs400488 24 122 0.196721 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HCG9 Pro43Leu P43L not reviewed Insufficiently evaluated not reviewed unknown Array rs58031868 5 124 0.0403226 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HCG9 Gly47Arg G47R not reviewed Insufficiently evaluated not reviewed unknown Array rs6904029 29 126 0.230159 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HCK Met105Leu M105L not reviewed Insufficiently evaluated not reviewed unknown Array rs55722810 186 10622 0.0175108 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.046 - - -3 - 1 - 4 - - HCLS1 Arg467Gln R467Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HCLS1 Val436Leu V436L not reviewed Insufficiently evaluated not reviewed unknown Array rs9869984 10713 10758 0.995817 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HCLS1 Glu388Lys E388K not reviewed Insufficiently evaluated not reviewed unknown Array 518 10758 0.0481502 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HCLS1 Glu361Lys E361K not reviewed Insufficiently evaluated not reviewed unknown Array rs2070180 2547 10758 0.236754 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HCLS1 Thr235Ala T235A not reviewed Insufficiently evaluated not reviewed unknown Array rs2070179 7665 10758 0.712493 46 0 72 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HCLS1 Asp166Asn D166N not reviewed Insufficiently evaluated not reviewed unknown Array rs34767273 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - HCLS1 Glu106Gly E106G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HCN2 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array 19 70 0.271429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.079 - - 1 - 0 N - - HCN3 Val334Ile V334I not reviewed Insufficiently evaluated not reviewed unknown Array rs61749584 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.18 - - -4 - 0 N - - HCN3 Arg411His R411H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10724 0.000559492 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HCP5 Trp82Cys W82C not reviewed Insufficiently evaluated not reviewed unknown Array rs2255221 15 128 0.117188 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HCP5 His123Arg H123R not reviewed Insufficiently evaluated not reviewed unknown Array rs3130907 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HCRTR1 Val23Ala V23A not reviewed Insufficiently evaluated not reviewed unknown Array rs11806980 473 10758 0.0439673 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - HCRTR1 Ile408Val I408V not reviewed Insufficiently evaluated not reviewed unknown Array rs2271933 5417 10758 0.503532 40 0 59 2 2 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HCRTR2 Ile308Val I308V not reviewed Insufficiently evaluated not reviewed unknown Array rs2653349 8879 10758 0.825339 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HDAC10 Asn592Asp N592D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HDAC10 Asn612Asp N612D not reviewed Insufficiently evaluated not reviewed unknown Array rs11553696 178 10664 0.0166917 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HDAC10 Gln566Arg Q566R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDAC10 Gln586Arg Q586R not reviewed Insufficiently evaluated not reviewed unknown Array rs11553697 90 10716 0.00839866 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDAC10 Ser525Pro S525P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HDAC10 Ser545Pro S545P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - HDAC10 Val524Ile V524I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HDAC10 Val544Ile V544I not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 1 - 1 - - HDAC2 Ser68Thr S68T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HDAC2 Tyr57Cys Y57C not reviewed Insufficiently evaluated not reviewed unknown Array 192 9644 0.0199088 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDAC4 Pro999Thr P999T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HDAC4 Val320Ile V320I not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HDAC4 Ala319Thr A319T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HDAC5 Glu810Gly E810G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDAC5 Glu811Gly E811G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDAC5 Asp593Glu D593E not reviewed Insufficiently evaluated not reviewed unknown Array rs228757 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HDAC5 Asp594Glu D594E not reviewed Insufficiently evaluated not reviewed unknown Array rs228757 7375 10758 0.685536 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HDAC5 Gly565Ala G565A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HDAC5 Gly566Ala G566A not reviewed Insufficiently evaluated not reviewed unknown Array rs33916560 205 10758 0.0190556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HDAC6 Arg832His R832H not reviewed Insufficiently evaluated not reviewed unknown Array rs61735967 191 8761 0.0218012 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - HDAC7 Ser581Leu S581L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDAC7 Ser618Leu S618L not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDC Glu644Asp E644D not reviewed Insufficiently evaluated not reviewed unknown Array rs2073440 673 10758 0.0625581 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.877 - - -2 - 1 N - - HDC Thr31Met T31M not reviewed Insufficiently evaluated not reviewed unknown Array rs17740607 894 10758 0.0831009 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.162 - - 2 - 0 N - - HDGF Pro194Leu P194L not reviewed Insufficiently evaluated not reviewed unknown Array rs4399146 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HDGF Pro201Leu P201L not reviewed Insufficiently evaluated not reviewed unknown Array rs4399146 2862 10758 0.266035 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.924 - - 7 Y 1 N - - HDGF Pro217Leu P217L not reviewed Insufficiently evaluated not reviewed unknown Array rs4399146 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HDGF Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDGF Gly177Arg G177R not reviewed Insufficiently evaluated not reviewed unknown Array rs73002716 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 6 Y 0 N - - HDGF Gly193Arg G193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDGF2 Pro285Ser P285S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HDGF2 Arg359His R359H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HDGFL1 Thr87Met T87M not reviewed Insufficiently evaluated not reviewed unknown Array rs2076506 837 10756 0.077817 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.142 - - 2 - 0 N - - HDHD1A Thr111Met T111M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HDHD1A Thr88Met T88M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HDHD2 Thr48Ala T48A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.439 - - 1 - 1 N - - HDHD3 Gly146Glu G146E not reviewed Insufficiently evaluated not reviewed unknown Array rs1043836 6466 10758 0.601041 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HDLBP Asn418Ser N418S not reviewed Insufficiently evaluated not reviewed unknown Array rs7578199 2414 10758 0.224391 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HDLBP Val229Ile V229I not reviewed Insufficiently evaluated not reviewed unknown Array rs7572799 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HDLBP Ser61Ala S61A not reviewed Insufficiently evaluated not reviewed unknown Array rs11891776 110 110 1 46 0 92 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HDX Asn557Ser N557S not reviewed Insufficiently evaluated not reviewed unknown Array 447 8754 0.0510624 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HDX Phe397Ser F397S not reviewed Insufficiently evaluated not reviewed unknown Array rs35161124 1168 8759 0.133349 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 1 N - - HDX Ala193Thr A193T not reviewed Insufficiently evaluated not reviewed unknown Array rs35653454 151 8761 0.0172355 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR1 Ser2077Leu S2077L not reviewed Insufficiently evaluated not reviewed unknown Array rs6664730 468 10758 0.0435025 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - HEATR1 Glu2017Gly E2017G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275687 6478 10758 0.602157 47 0 66 0 0 - - - - - - - - - - - - - - - - 0.181 - - 6 Y 0 N - - HEATR1 Asn1967Asp N1967D not reviewed Insufficiently evaluated not reviewed unknown Array rs1126627 6479 10758 0.60225 47 0 66 0 0 - - - - - - - - - - - - - - - - 0.05 - - -1 - 0 N - - HEATR1 Val1854Ala V1854A not reviewed Insufficiently evaluated not reviewed unknown Array rs1885533 6478 10758 0.602157 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HEATR1 Asn1694Ser N1694S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275689 8003 10758 0.743912 50 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HEATR1 Asp1570Glu D1570E not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.181 - - -2 - 0 N - - HEATR1 Ser1559Asn S1559N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6661946 1450 10758 0.134783 17 0 19 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - HEATR1 Tyr1433Cys Y1433C not reviewed Insufficiently evaluated not reviewed unknown Array rs653737 1313 10758 0.122049 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HEATR1 Ile1366Val I1366V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HEATR1 Gln1264His Q1264H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - -1 - 2 N - - HEATR1 Ile1102Thr I1102T not reviewed Insufficiently evaluated not reviewed unknown Array 183 10754 0.0170169 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HEATR1 Met607Val M607V not reviewed Insufficiently evaluated not reviewed unknown Array rs2794763 4889 10756 0.454537 30 0 40 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 1 N - - HEATR1 Ala580Thr A580T not reviewed Insufficiently evaluated not reviewed unknown Array rs60920266 213 10754 0.0198066 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR1 Gly570Arg G570R not reviewed Insufficiently evaluated not reviewed unknown Array 211 10724 0.0196755 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HEATR1 His348Arg H348R not reviewed Insufficiently evaluated not reviewed unknown Array rs2794751 6497 10758 0.603923 48 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HEATR1 Ile179Thr I179T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - HEATR2 Gly150Ser G150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR2 Ser307Arg S307R not reviewed Insufficiently evaluated not reviewed unknown Array 115 10750 0.0106977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - HEATR2 Arg560Cys R560C not reviewed Insufficiently evaluated not reviewed unknown Array rs73258248 48 10758 0.0044618 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - HEATR2 Ile563Val I563V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HEATR2 Val632Ala V632A not reviewed Insufficiently evaluated not reviewed unknown Array rs4720951 4623 10758 0.429727 37 0 46 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - HEATR2 Arg743Lys R743K not reviewed Insufficiently evaluated not reviewed unknown Array rs3922641 6776 10758 0.629857 50 0 71 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HEATR2 Gln855Arg Q855R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - HEATR3 Ile515Val I515V not reviewed Insufficiently evaluated not reviewed unknown Array rs73580039 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HEATR4 Arg767Gln R767Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59042606 380 10758 0.0353226 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - HEATR4 Asn334Lys N334K not reviewed Insufficiently evaluated not reviewed unknown Array 284 10758 0.026399 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR4 Arg191Cys R191C not reviewed Insufficiently evaluated not reviewed unknown Array 500 10758 0.046477 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HEATR4 Arg115Cys R115C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - HEATR5A Ile1637Leu I1637L not reviewed Insufficiently evaluated not reviewed unknown Array rs61754460 5 9704 0.000515251 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HEATR5A Lys1577Glu K1577E not reviewed Insufficiently evaluated not reviewed unknown Array rs61741258 341 9548 0.0357143 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR5A Leu1129Trp L1129W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - HEATR5A Asn970Thr N970T not reviewed Insufficiently evaluated not reviewed unknown Array rs28396248 799 9570 0.0834901 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HEATR5A Val593Met V593M not reviewed Insufficiently evaluated not reviewed unknown Array rs3736918 8327 9706 0.857923 43 0 77 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HEATR5B Gly1826Ala G1826A not reviewed Insufficiently evaluated not reviewed unknown Array rs62621396 1135 10758 0.105503 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HEATR6 Thr1094Ala T1094A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.902 - - 1 - 2 N - - HEATR6 Ser1006Leu S1006L not reviewed Insufficiently evaluated not reviewed unknown Array rs16943991 1122 10758 0.104294 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - HEATR6 Val599Ile V599I not reviewed Insufficiently evaluated not reviewed unknown Array rs34601003 233 10758 0.0216583 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - HEATR6 Ala71Val A71V not reviewed Insufficiently evaluated not reviewed unknown Array rs3744376 810 10238 0.079117 13 0 12 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - HEATR7A Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR7A Ala38Val A38V not reviewed Insufficiently evaluated not reviewed unknown Array rs34819224 8531 10508 0.811858 44 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HEATR7B2 Asp1529Gly D1529G not reviewed Insufficiently evaluated not reviewed unknown Array 297 9620 0.0308732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - HEATR7B2 Leu1179Pro L1179P not reviewed Insufficiently evaluated not reviewed unknown Array rs2271704 8620 10270 0.839338 54 0 94 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HEATR7B2 Ala1112Thr A1112T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - HEATR7B2 Asn918Lys N918K not reviewed Insufficiently evaluated not reviewed unknown Array rs10054110 3241 9672 0.335091 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HEATR7B2 Phe890Leu F890L not reviewed Insufficiently evaluated not reviewed unknown Array 466 9934 0.0469096 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - HEATR7B2 Asp648Val D648V not reviewed Insufficiently evaluated not reviewed unknown Array rs16870720 413 9542 0.0432823 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - HEATR7B2 Arg526His R526H not reviewed Insufficiently evaluated not reviewed unknown Array rs13173930 3043 9646 0.315468 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 1 N - - HEATR7B2 Val496Ile V496I not reviewed Insufficiently evaluated not reviewed unknown Array rs325864 8625 9928 0.868755 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HEATR7B2 Glu468Val E468V not reviewed Insufficiently evaluated not reviewed unknown Array rs17198125 529 9786 0.0540568 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 1 - 1 - - HEATR7B2 Trp191Stop W191X not reviewed Insufficiently evaluated not reviewed unknown Array rs1023840 1486 9828 0.151201 2 0 2 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - HEATR7B2 Trp191Arg W191R not reviewed Insufficiently evaluated not reviewed unknown Array rs865093 8309 9836 0.844754 31 0 51 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HEATR7B2 Met11Val M11V not reviewed Insufficiently evaluated not reviewed unknown Array rs13174484 3132 9520 0.328992 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - HEBP1 Glu183Asp E183D not reviewed Insufficiently evaluated not reviewed unknown Array rs1941 283 10758 0.026306 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - HEBP1 Asp164Glu D164E not reviewed Insufficiently evaluated not reviewed unknown Array rs73287248 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.564 - - -2 - 1 N - - HEBP2 Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 2 - - HECTD1 Thr2424Ile T2424I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HECTD1 Phe2423Leu F2423L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HECTD1 Phe2423Tyr F2423Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HECTD1 Leu2027Pro L2027P not reviewed Insufficiently evaluated not reviewed unknown Array rs1315794 124 124 1 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HECTD1 Glu1885Lys E1885K not reviewed Insufficiently evaluated not reviewed unknown Array rs61976859 662 9418 0.0702909 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HECTD1 Ser1384Gly S1384G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HECTD1 Gly819Cys G819C not reviewed Insufficiently evaluated not reviewed unknown Array 27 9430 0.0028632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 7 Y 0 N - - HECTD2 Pro19Ala P19A not reviewed Insufficiently evaluated not reviewed unknown Array rs7081569 14 14 1 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HECTD3 Ala816Thr A816T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10368 9.645e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 1 - 0 N - - HECTD3 Val690Ile V690I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10278 9.7295e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - HECTD3 Gly85Val G85V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - HECW1 Ser26Ala S26A not reviewed Insufficiently evaluated not reviewed unknown Array rs73689977 119 9880 0.0120445 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HECW1 Gly404Arg G404R not reviewed Insufficiently evaluated not reviewed unknown Array rs61756574 1456 10368 0.140432 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HECW1 Glu922Lys E922K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HECW2 Arg659Gln R659Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - HEG1 Met1039Thr M1039T not reviewed Insufficiently evaluated not reviewed unknown Array rs6438869 6165 9852 0.625761 53 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HEG1 Val980Leu V980L not reviewed Insufficiently evaluated not reviewed unknown Array rs10804567 6528 10504 0.621478 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HEG1 Thr912Ser T912S not reviewed Insufficiently evaluated not reviewed unknown Array 1602 10114 0.158394 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.535 - - -2 - 0 N - - HEG1 Phe602Ser F602S not reviewed Insufficiently evaluated not reviewed unknown Array rs6790837 4224 10052 0.420215 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HEG1 Ser305Pro S305P not reviewed Insufficiently evaluated not reviewed unknown Array rs2981546 4551 9974 0.456286 43 0 59 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - HEG1 Arg101Ser R101S not reviewed Insufficiently evaluated not reviewed unknown Array rs62265663 108 1832 0.058952 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HEG1 Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 290 0.0413793 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HELB Glu172Lys E172K not reviewed Insufficiently evaluated not reviewed unknown Array rs35605829 471 10758 0.0437814 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - HELB Leu191Pro L191P not reviewed Insufficiently evaluated not reviewed unknown Array rs4430553 6239 10758 0.57994 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HELB Thr575Ala T575A not reviewed Insufficiently evaluated not reviewed unknown Array rs58589183 93 10758 0.00864473 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HELB Ile692Asn I692N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - HELB Arg946His R946H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HELB Pro966Leu P966L not reviewed Insufficiently evaluated not reviewed unknown Array rs1185244 4460 10758 0.414575 30 0 40 0 0 - - - - - - - - - - - - - - - - 0.751 - - 7 Y 0 N - - HELB Thr980Ile T980I not reviewed Insufficiently evaluated not reviewed unknown Array rs1168312 1729 10758 0.160718 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.615 - - 3 - 0 N - - HELB Phe1013Ser F1013S not reviewed Insufficiently evaluated not reviewed unknown Array rs73329073 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 5 Y 0 N - - HELB Glu1047Stop E1047X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HELLS Ala39Gly A39G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - 1 - 1 - 3 - - HELQ Ala993Gly A993G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HELQ Lys819Arg K819R not reviewed Insufficiently evaluated not reviewed unknown Array 113 10750 0.0105116 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HELQ Lys611Arg K611R not reviewed Insufficiently evaluated not reviewed unknown Array 101 10756 0.00939011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - HELQ Pro585Ser P585S not reviewed Insufficiently evaluated not reviewed unknown Array rs6817280 961 10756 0.0893455 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.149 - - 3 - 0 N - - HELQ Val306Ile V306I not reviewed Insufficiently evaluated not reviewed unknown Array rs1494961 6372 10758 0.592303 51 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HELQ Leu235Pro L235P not reviewed Insufficiently evaluated not reviewed unknown Array rs17006837 1580 10758 0.146867 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.551 - - 7 Y 0 N - - HELQ Val35Glu V35E benign Insufficiently evaluated benign unknown Array rs6831595 10757 10758 0.999907 31 0 62 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HELT Leu147Val L147V not reviewed Insufficiently evaluated not reviewed unknown Array rs1078461 13 128 0.101562 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.184 - - 0 - 0 N - - HELZ Ala1530Val A1530V not reviewed Insufficiently evaluated not reviewed unknown Array rs11653020 10183 10706 0.951149 42 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HELZ Gln1453Pro Q1453P not reviewed Insufficiently evaluated not reviewed unknown Array 18 10160 0.00177165 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HELZ Val74Met V74M not reviewed Insufficiently evaluated not reviewed unknown Array rs8080100 1722 9440 0.182415 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HEMK1 Ile42Val I42V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HEMK1 His200Gln H200Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2232251 452 10758 0.0420152 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - HEPACAM Met218Val M218V not reviewed Insufficiently evaluated not reviewed unknown Array rs10790715 8073 10758 0.750418 50 0 89 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HEPACAM Arg3Thr R3T not reviewed Insufficiently evaluated not reviewed unknown Array rs35446349 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - HEPACAM2 Lys74Thr K74T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - HEPACAM2 Lys86Thr K86T not reviewed Insufficiently evaluated not reviewed unknown Array rs10281525 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 2 - - HEPH Asp301His D301H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - HEPH Asp571His D571H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - HEPH Ala328Thr A328T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 1 - 0 N - - HEPH Ala598Thr A598T not reviewed Insufficiently evaluated not reviewed unknown Array 169 8761 0.01929 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - 1 - 1 N - - HEPHL1 Asn251Asp N251D not reviewed Insufficiently evaluated not reviewed unknown Array rs1945783 8900 9634 0.923811 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HEPN1 Trp37Arg W37R not reviewed Insufficiently evaluated not reviewed unknown Array rs3802904 7517 10004 0.751399 50 0 89 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HEPN1 His61Leu H61L not reviewed Insufficiently evaluated not reviewed unknown Array 755 9840 0.0767276 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HERC1 Arg4352Cys R4352C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HERC1 Glu3722Asp E3722D not reviewed Insufficiently evaluated not reviewed unknown Array rs2229749 8641 9902 0.872652 47 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HERC1 Ser3152Phe S3152F not reviewed Insufficiently evaluated not reviewed unknown Array rs2228513 337 9742 0.0345925 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - HERC1 Ile2220Val I2220V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228510 5176 9866 0.52463 32 0 38 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - HERC1 Thr1995Ala T1995A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228512 293 9486 0.0308876 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HERC1 Gly1696Ala G1696A not reviewed Insufficiently evaluated not reviewed unknown Array rs2255243 8776 10074 0.871153 47 0 85 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HERC2 Met3442Ile M3442I not reviewed Insufficiently evaluated not reviewed unknown Array rs61754657 552 10758 0.0513107 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - HERC2 Pro3332Ser P3332S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10752 0.00716146 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.59 - - 3 - 1 N - - HERC2 Val2532Met V2532M not reviewed Insufficiently evaluated not reviewed unknown Array rs418638 1504 10394 0.144699 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERC2 Ile1248Phe I1248F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - HERC2 Arg1211Cys R1211C not reviewed Insufficiently evaluated not reviewed unknown Array 595 10754 0.0553282 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - HERC2 Val46Leu V46L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10752 0.00176711 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HERC3 Val409Ile V409I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HERC3 Glu946Gln E946Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1804080 1816 10758 0.168805 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.385 - - -2 - 0 N - - HERC5 Met498Val M498V not reviewed Insufficiently evaluated not reviewed unknown Array rs7699006 4869 10758 0.452593 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERC6 Arg10Gly R10G not reviewed Insufficiently evaluated not reviewed unknown Array 293 9662 0.030325 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HERC6 Arg172His R172H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HERC6 Val209Glu V209E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HERC6 Asp578Asn D578N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HERPUD1 Arg50His R50H not reviewed Insufficiently evaluated not reviewed unknown Array rs2217332 1609 10758 0.149563 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - HERPUD2 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array rs3779234 3368 10758 0.313069 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HERV-FRD Val483Ile V483I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HES3 Pro96Thr P96T not reviewed Insufficiently evaluated not reviewed unknown Array rs61760836 4958 7348 0.674741 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HES3 Asp184Gly D184G not reviewed Insufficiently evaluated not reviewed unknown Array 54 9316 0.00579648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HES4 Arg44Ser R44S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HES7 Ala114Pro A114P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.574 - Y 2 - 2 N - - HESX1 Asn125Ser N125S not reviewed Insufficiently evaluated not reviewed unknown Array rs9878928 819 10710 0.0764706 12 0 15 0 0 - - - - - - - - - - - - Y - - - 0.069 Y - 0 - 2 - 10 - - HEXA Ile436Val I436V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800431 9324 10758 0.866704 55 0 97 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - HEXA Asn399Asp N399D not reviewed Insufficiently evaluated not reviewed unknown Array rs1800430 400 10758 0.0371816 5 0 5 0 0 5 Y - - - - - - - - - - Y - - - - Y Y -1 - 4 - 2 - - HEXB Leu62Ser L62S not reviewed Insufficiently evaluated not reviewed unknown Array rs820878 10396 10736 0.968331 5 0 8 0 0 2 Y - - - - - - - - - - Y - - - - Y - 6 Y 2 - 1 - - HEXB Lys121Arg K121R benign Insufficiently evaluated benign unknown Array rs11556045 2138 10758 0.198736 18 0 18 0 0 3 Y - - - - - - - - - - Y Y - - - Y - -3 - 3 N 4 - - HEXB Ile207Val I207V not reviewed Insufficiently evaluated not reviewed unknown Array rs10805890 1348 10756 0.125325 16 0 17 0 0 - - - - - - - - - - - - Y - - - 0.119 Y - -4 - 2 - 10 - - HEXB Ile420Val I420V not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -4 - 1 N - - HEXDC Ile145Val I145V not reviewed Insufficiently evaluated not reviewed unknown Array rs4789773 3764 9862 0.381667 37 0 51 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - HEXIM2 Asn68Ser N68S not reviewed Insufficiently evaluated not reviewed unknown Array rs73319050 74 10756 0.00687988 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - HEXIM2 Ser96Pro S96P not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - HEYL His47Arg H47R not reviewed Insufficiently evaluated not reviewed unknown Array rs784625 10682 10758 0.992935 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HFE His40Asp H40D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - Y - Y Y 3 - 5 N 6 - - HFE Cys102Tyr C102Y pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 1 0 0 1 1 - - - - - - - - - - - - Y - Y Y - Y Y 6 Y 5 N - - HFE Cys176Tyr C176Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HFE Cys180Tyr C180Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HFE Cys190Tyr C190Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HFE Cys194Tyr C194Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - HFE Cys259Tyr C259Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HFE Cys268Tyr C268Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HFE Cys282Tyr C282Y pathogenic Low clinical importance, pathogenic recessive Array rs1800562 532 10758 0.0494516 2 0 1 3 3 2 Y 2 Y 5 Y 0 Y 2 Y 3 Y Y Y - Y 1.0 Y Y 6 Y 6 N 10 0 2 This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition. HFE2 Ala197Gly A197G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HFE2 Ala310Gly A310G not reviewed Insufficiently evaluated not reviewed unknown Array rs7540883 268 10758 0.0249117 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.376 Y Y 1 - 4 - 6 - - HFE2 Ala84Gly A84G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HFM1 Ile939Val I939V not reviewed Insufficiently evaluated not reviewed unknown Array rs11584478 2291 10744 0.213235 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HFM1 Thr710Met T710M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HFM1 Lys493Gln K493Q not reviewed Insufficiently evaluated not reviewed unknown Array 116 9626 0.0120507 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HFM1 Ile117Val I117V not reviewed Insufficiently evaluated not reviewed unknown Array rs282009 10745 10756 0.998977 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HFM1 His116Tyr H116Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HFM1 Ser115Pro S115P not reviewed Insufficiently evaluated not reviewed unknown Array rs11165778 2443 10756 0.227129 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HFM1 Leu2Pro L2P not reviewed Insufficiently evaluated not reviewed unknown Array rs72952916 62 10732 0.00577712 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 6 - - HGD Gln80His Q80H not reviewed Insufficiently evaluated not reviewed unknown Array rs2255543 8007 10750 0.744837 51 0 83 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 2 - - HGF Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - HGF Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array rs73381183 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 0 - 5 - 1 - - HGFAC Ala218Ser A218S not reviewed Insufficiently evaluated not reviewed unknown Array rs3748034 1104 10660 0.103565 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - HGFAC Val225Met V225M not reviewed Insufficiently evaluated not reviewed unknown Array rs16844370 155 10668 0.0145294 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 3 - 5 - - HGFAC Phe231Leu F231L not reviewed Insufficiently evaluated not reviewed unknown Array rs1987546 7150 10672 0.669977 53 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HGFAC Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array rs16844401 582 10734 0.0542202 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.112 - - 1 - 0 N - - HGFAC Arg644Gln R644Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2498323 1093 10756 0.101618 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 1 N - - HGS Ala733Ser A733S not reviewed Insufficiently evaluated not reviewed unknown Array rs56058441 700 10758 0.0650679 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HGSNAT Val614Ile V614I not reviewed Insufficiently evaluated not reviewed unknown Array rs73675469 265 10750 0.0246512 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HGSNAT Ala615Thr A615T not reviewed Insufficiently evaluated not reviewed unknown Array 48 10752 0.00446428 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - HHAT Ser182Asn S182N not reviewed Insufficiently evaluated not reviewed unknown Array rs2294851 1152 10758 0.107083 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - HHAT Cys188Arg C188R not reviewed Insufficiently evaluated not reviewed unknown Array rs34228541 1537 10758 0.14287 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - HHAT Gly333Arg G333R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744143 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.786 - - 6 Y 1 N - - HHATL Met403Val M403V not reviewed Insufficiently evaluated not reviewed unknown Array rs11079 6566 10758 0.610336 49 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HHIP Gly236Glu G236E not reviewed Insufficiently evaluated not reviewed unknown Array rs61730970 265 10758 0.0246328 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - HHIPL1 Val692Ala V692A not reviewed Insufficiently evaluated not reviewed unknown Array rs7158073 1684 3198 0.526579 15 0 20 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - HHIPL2 Ser705Ile S705I not reviewed Insufficiently evaluated not reviewed unknown Array rs61739371 280 10758 0.0260271 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 1 - 1 - - HHIPL2 Arg434Leu R434L not reviewed Insufficiently evaluated not reviewed unknown Array rs3748663 1134 10758 0.10541 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - HHIPL2 Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3748665 1120 10758 0.104109 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - HHIPL2 His391Asp H391D not reviewed Insufficiently evaluated not reviewed unknown Array rs3748666 3262 10758 0.303216 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HHIPL2 Val241Met V241M not reviewed Insufficiently evaluated not reviewed unknown Array rs3811466 43 10758 0.00399703 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - HHLA1 Leu390Ser L390S not reviewed Insufficiently evaluated not reviewed unknown Array rs2280851 2453 3234 0.758503 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HHLA1 Pro251Leu P251L not reviewed Insufficiently evaluated not reviewed unknown Array rs2403730 988 3234 0.305504 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HHLA2 Ile30Thr I30T not reviewed Insufficiently evaluated not reviewed unknown Array rs6779254 6762 9608 0.703789 42 0 63 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HHLA2 Ser364Arg S364R not reviewed Insufficiently evaluated not reviewed unknown Array rs6779094 1921 9570 0.200731 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - HIBCH Glu245Asp E245D not reviewed Insufficiently evaluated not reviewed unknown Array rs61752508 199 10752 0.0185082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIBCH Thr46Ala T46A not reviewed Insufficiently evaluated not reviewed unknown Array rs1058180 7765 10756 0.721923 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIBCH Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs291466 5917 10758 0.550009 40 0 55 0 0 - - - - - - - - - - - - - - - - 0.972 - - 2 - 1 N - - HIC2 Val289Ile V289I not reviewed Insufficiently evaluated not reviewed unknown Array 49 10724 0.00456919 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.308 - - -4 - 1 N - - HIF1A Pro582Ser P582S not reviewed Insufficiently evaluated not reviewed unknown Array rs11549465 938 10758 0.0871909 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.174 - - 3 - 0 N - - HIF1A Ala588Thr A588T not reviewed Insufficiently evaluated not reviewed unknown Array rs11549467 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIF1AN Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array rs2295778 2001 10704 0.186939 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - HIF3A Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIF3A Ala200Val A200V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIF3A Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750957 996 10758 0.0925823 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HIF3A Phe407Leu F407L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - HIF3A Phe461Leu F461L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - HIF3A Phe463Leu F463L not reviewed Insufficiently evaluated not reviewed unknown Array rs7253301 330 10758 0.0306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - HIF3A Leu420Val L420V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIF3A Leu474Val L474V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIF3A Leu476Val L476V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 1 - 1 - - HIF3A Arg492Trp R492W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HIF3A Arg546Trp R546W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HIF3A Arg548Trp R548W not reviewed Insufficiently evaluated not reviewed unknown Array rs58016109 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - HIGD1B Ser86Asn S86N not reviewed Insufficiently evaluated not reviewed unknown Array rs1071682 3401 10758 0.316137 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - HIGD1B Asp87Asn D87N not reviewed Insufficiently evaluated not reviewed unknown Array rs2231650 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 3 - 1 - - HINFP Val362Met V362M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 0 - 1 N - - HINFP Gly450Glu G450E not reviewed Insufficiently evaluated not reviewed unknown Array rs61753080 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - HINFP Ala493Val A493V not reviewed Insufficiently evaluated not reviewed unknown Array rs100803 3725 10758 0.346254 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HINT3 Gly36Ala G36A not reviewed Insufficiently evaluated not reviewed unknown Array rs2295005 5173 9116 0.567464 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIP1 His656Pro H656P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - HIP1 Met263Lys M263K not reviewed Insufficiently evaluated not reviewed unknown Array rs17149023 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.818 - - 4 Y 2 - 5 - - HIP1 Ser35Thr S35T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 1 N - - HIP1R Gln430Glu Q430E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -2 - 2 N - - HIP1R Ala531Val A531V not reviewed Insufficiently evaluated not reviewed unknown Array rs59499651 479 10730 0.0446412 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIP1R Glu619Lys E619K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10752 0.00213914 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - HIP1R Val782Met V782M not reviewed Insufficiently evaluated not reviewed unknown Array rs2271051 1130 10756 0.105058 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HIP1R Ala788Val A788V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 2 - 0 N - - HIPK3 Gly170Glu G170E not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 1 - 3 - - HIPK3 Val474Ile V474I not reviewed Insufficiently evaluated not reviewed unknown Array rs266472 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HIPK3 Ser500Asn S500N not reviewed Insufficiently evaluated not reviewed unknown Array rs11032229 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - HIPK4 Ala386Thr A386T not reviewed Insufficiently evaluated not reviewed unknown Array rs56365273 45 10758 0.00418293 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.834 - - 1 - 1 N - - HIPK4 Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11670988 740 10744 0.0688756 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 1 N - - HIPK4 Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 2 - 2 N - - HIST1H1A Lys140Arg K140R not reviewed Insufficiently evaluated not reviewed unknown Array rs16891235 1163 10758 0.108106 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HIST1H1A Thr99Ile T99I not reviewed Insufficiently evaluated not reviewed unknown Array rs417751 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 3 - 2 - - HIST1H1B Lys144Arg K144R not reviewed Insufficiently evaluated not reviewed unknown Array rs11970638 353 10756 0.0328189 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - HIST1H1B Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array rs73386641 106 10688 0.00991766 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIST1H1C Ala171Val A171V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIST1H1C Gly124Ala G124A not reviewed Insufficiently evaluated not reviewed unknown Array rs12111009 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIST1H1C Lys122Asn K122N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIST1H1C Ser113Ala S113A not reviewed Insufficiently evaluated not reviewed unknown Array rs34810376 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - -1 - 1 - 2 - - HIST1H1C Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - HIST1H1C Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230653 198 10738 0.0184392 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIST1H1D Asn78Thr N78T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.796 - - 1 - 1 N - - HIST1H1T Gln178Lys Q178K not reviewed Insufficiently evaluated not reviewed unknown Array rs198845 3241 10758 0.301264 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.598 - - -2 - 0 N - - HIST1H1T Leu52Phe L52F not reviewed Insufficiently evaluated not reviewed unknown Array rs2051542 747 10758 0.0694367 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 0 N - - HIST1H1T Val14Leu V14L not reviewed Insufficiently evaluated not reviewed unknown Array rs198844 5190 10758 0.482432 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HIST1H2AK Ala46Ser A46S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HIST1H2BD Gly14Asp G14D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.42 - - 4 Y 1 N - - HIST1H2BE Gly27Ser G27S not reviewed Insufficiently evaluated not reviewed unknown Array rs7766641 2208 10758 0.205243 21 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HIST1H2BL Leu4Pro L4P not reviewed Insufficiently evaluated not reviewed unknown Array rs200484 1467 10758 0.136364 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HIST1H3A Ser88Phe S88F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HIST1H3A Gln126Pro Q126P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HIST1H4G Val3Ala V3A not reviewed Insufficiently evaluated not reviewed unknown Array rs41266821 1064 10758 0.0989031 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.125 - - 2 - 0 N - - HIVEP1 Thr187Met T187M not reviewed Insufficiently evaluated not reviewed unknown Array rs2228209 2611 10262 0.254434 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HIVEP1 Phe692Val F692V not reviewed Insufficiently evaluated not reviewed unknown Array 114 10118 0.011267 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIVEP1 Leu713Phe L713F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIVEP1 Thr716Ala T716A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228210 2617 10308 0.25388 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIVEP1 Thr873Ala T873A not reviewed Insufficiently evaluated not reviewed unknown Array rs6900196 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIVEP1 Asn1074Ser N1074S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228220 1035 9644 0.107321 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HIVEP1 Lys1170Asn K1170N not reviewed Insufficiently evaluated not reviewed unknown Array rs34258344 466 9558 0.048755 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIVEP1 Ala1520Gly A1520G not reviewed Insufficiently evaluated not reviewed unknown Array rs2228212 3030 9920 0.305444 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIVEP1 Met1609Ile M1609I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228213 2645 10240 0.258301 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HIVEP1 Gln1915Arg Q1915R not reviewed Insufficiently evaluated not reviewed unknown Array rs1126472 1295 9784 0.132359 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HIVEP1 Val2401Ala V2401A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10188 0.00157048 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIVEP1 Ser2432Gly S2432G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10290 0.00126336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIVEP1 Ser2640Leu S2640L not reviewed Insufficiently evaluated not reviewed unknown Array rs73722708 64 10492 0.00609988 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIVEP2 Leu1538Pro L1538P not reviewed Insufficiently evaluated not reviewed unknown Array rs109836 9775 9998 0.977696 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HIVEP2 Ala932Thr A932T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - HIVEP3 Pro2403Arg P2403R not reviewed Insufficiently evaluated not reviewed unknown Array rs74071559 337 10754 0.0313372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - HIVEP3 Pro2404Arg P2404R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - HIVEP3 Pro2375Ser P2375S not reviewed Insufficiently evaluated not reviewed unknown Array rs72669005 1026 10726 0.0956554 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HIVEP3 Pro2376Ser P2376S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - HIVEP3 Thr2338Ala T2338A not reviewed Insufficiently evaluated not reviewed unknown Array rs9439043 9227 9536 0.967596 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIVEP3 Thr2339Ala T2339A not reviewed Insufficiently evaluated not reviewed unknown Array rs9439043 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIVEP3 Ser2306Arg S2306R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10568 0.000757002 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIVEP3 Ser2307Arg S2307R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HIVEP3 Gly2271Arg G2271R not reviewed Insufficiently evaluated not reviewed unknown Array rs11809423 1060 10754 0.098568 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.121 - - 6 Y 0 N - - HIVEP3 Gly2272Arg G2272R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIVEP3 Asp2109Ala D2109A not reviewed Insufficiently evaluated not reviewed unknown Array rs2991344 10524 10576 0.995083 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HIVEP3 Ala2023Pro A2023P not reviewed Insufficiently evaluated not reviewed unknown Array rs2483689 10699 10758 0.994516 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HIVEP3 Thr1910Met T1910M not reviewed Insufficiently evaluated not reviewed unknown Array 44 10666 0.00412526 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HIVEP3 Gln1087His Q1087H not reviewed Insufficiently evaluated not reviewed unknown Array rs17363472 456 10758 0.0423871 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.489 - - -1 - 1 N - - HIVEP3 Ser1057Thr S1057T not reviewed Insufficiently evaluated not reviewed unknown Array rs41269473 277 10758 0.0257483 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIVEP3 His575Arg H575R not reviewed Insufficiently evaluated not reviewed unknown Array rs2810566 10629 10758 0.988009 50 0 99 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HIVEP3 Gly310Arg G310R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 6 Y 0 N - - HIVEP3 Val35Ile V35I not reviewed Insufficiently evaluated not reviewed unknown Array rs2146315 2765 10758 0.257018 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - HJURP Glu723Gly E723G not reviewed Insufficiently evaluated not reviewed unknown Array rs10511 1261 10758 0.117215 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.828 - - 6 Y 0 N - - HJURP Ser691Phe S691F not reviewed Insufficiently evaluated not reviewed unknown Array rs12582 1259 10758 0.117029 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.068 - - 5 Y 0 N - - HJURP Glu568Asp E568D not reviewed Insufficiently evaluated not reviewed unknown Array rs3771333 129 10758 0.0119911 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.871 - - -2 - 2 N - - HJURP Ser549Cys S549C not reviewed Insufficiently evaluated not reviewed unknown Array rs3821238 1402 10758 0.130322 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 0 N - - HJURP Ser295Cys S295C not reviewed Insufficiently evaluated not reviewed unknown Array rs3732215 4348 10758 0.404164 32 0 42 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - HJURP Arg199Gly R199G not reviewed Insufficiently evaluated not reviewed unknown Array rs3806589 7193 10758 0.668619 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HJURP Glu76Lys E76K not reviewed Insufficiently evaluated not reviewed unknown Array rs2286430 4179 10756 0.388527 30 0 40 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - HJURP Thr4Ala T4A not reviewed Insufficiently evaluated not reviewed unknown Array rs2302154 524 10756 0.048717 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.065 - - 1 - 0 N - - HK1 His7Arg H7R not reviewed Insufficiently evaluated not reviewed unknown Array rs906220 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HK2 Gln142His Q142H not reviewed Insufficiently evaluated not reviewed unknown Array rs2229621 2041 10758 0.189719 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HK2 Ala387Ser A387S not reviewed Insufficiently evaluated not reviewed unknown Array rs28363029 54 10590 0.00509915 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 5 - - HK2 Arg844Lys R844K not reviewed Insufficiently evaluated not reviewed unknown Array rs2229629 2036 10758 0.189255 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HK3 Ala733Gly A733G not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - HK3 Gln600His Q600H not reviewed Insufficiently evaluated not reviewed unknown Array rs61749650 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - HK3 Pro301Ser P301S not reviewed Insufficiently evaluated not reviewed unknown Array rs73341831 41 10758 0.00381112 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.595 - - 3 - 1 N - - HK3 Gly281Arg G281R not reviewed Insufficiently evaluated not reviewed unknown Array rs35610191 313 10758 0.0290946 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.722 - - 6 Y 2 - 3 - - HK3 Thr82Ser T82S not reviewed Insufficiently evaluated not reviewed unknown Array rs73341833 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.671 - - -2 - 2 - 2 - - HKDC1 Asp54Gly D54G not reviewed Insufficiently evaluated not reviewed unknown Array rs10823320 373 10758 0.0346719 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.55 - - 4 Y 1 N - - HKDC1 Thr66Ile T66I not reviewed Insufficiently evaluated not reviewed unknown Array rs74138158 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - HKDC1 Thr124Ile T124I not reviewed Insufficiently evaluated not reviewed unknown Array rs874556 4904 10758 0.455847 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HKDC1 Leu204Pro L204P not reviewed Insufficiently evaluated not reviewed unknown Array rs7899445 113 10758 0.0105038 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.406 - - 7 Y 2 - 1 - - HKDC1 Trp721Arg W721R not reviewed Insufficiently evaluated not reviewed unknown Array rs1111335 10683 10758 0.993028 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HKDC1 Asn917Lys N917K not reviewed Insufficiently evaluated not reviewed unknown Array rs906219 3087 10758 0.286949 25 0 32 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - HKR1 Arg448His R448H not reviewed Insufficiently evaluated not reviewed unknown Array rs2921563 845 10758 0.0785462 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HKR1 Ser513Ile S513I not reviewed Insufficiently evaluated not reviewed unknown Array rs3745765 2997 10758 0.278583 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HKR1 Thr628Ile T628I not reviewed Insufficiently evaluated not reviewed unknown Array rs3745764 2335 10758 0.217048 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-A Leu10Val L10V not reviewed Insufficiently evaluated not reviewed unknown Array rs1143146 5106 10754 0.4748 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-A Ser14Leu S14L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230954 1410 10748 0.131187 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HLA-A Trp23Arg W23R not reviewed Insufficiently evaluated not reviewed unknown Array rs41564012 213 10740 0.0198324 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 3 - 2 - - HLA-A Phe33Ile F33I not reviewed Insufficiently evaluated not reviewed unknown Array 647 10658 0.0607056 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.111 - - 2 - 1 - 4 - - HLA-A Phe33Ser F33S not reviewed Insufficiently evaluated not reviewed unknown Array rs2075684 3767 10652 0.353642 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - HLA-A Phe33Tyr F33Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2075684 25 118 0.211864 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 5 - - HLA-A Gln67Arg Q67R not reviewed Insufficiently evaluated not reviewed unknown Array 218 10748 0.0202828 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-A Arg68Lys R68K not reviewed Insufficiently evaluated not reviewed unknown Array rs707910 1450 10748 0.134909 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HLA-A Ile76Met I76M not reviewed Insufficiently evaluated not reviewed unknown Array rs41544012 628 10752 0.0584077 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-A Gly80Arg G80R not reviewed Insufficiently evaluated not reviewed unknown Array rs1059449 842 10754 0.0782964 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.055 - - 6 Y 0 N - - HLA-A Gln86Glu Q86E not reviewed Insufficiently evaluated not reviewed unknown Array rs1059455 2027 10736 0.188804 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-A Glu87Lys E87K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - HLA-A Asn90Lys N90K not reviewed Insufficiently evaluated not reviewed unknown Array rs1059460 2929 10728 0.273024 20 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HLA-A Val91Met V91M not reviewed Insufficiently evaluated not reviewed unknown Array rs41564215 1551 10732 0.144521 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-A Gln94His Q94H not reviewed Insufficiently evaluated not reviewed unknown Array rs1059463 6818 10734 0.635178 34 0 55 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-A Asp98His D98H not reviewed Insufficiently evaluated not reviewed unknown Array rs1136683 2423 10730 0.225815 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-A Ala114Asp A114D not reviewed Insufficiently evaluated not reviewed unknown Array rs1136692 2740 10730 0.255359 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-A Ile119Val I119V not reviewed Insufficiently evaluated not reviewed unknown Array rs1071743 13 102 0.127451 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-A Ile121Met I121M not reviewed Insufficiently evaluated not reviewed unknown Array rs1136695 3532 7296 0.484101 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-A Tyr123Phe Y123F not reviewed Insufficiently evaluated not reviewed unknown Array rs1136697 927 7408 0.125135 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - HLA-A Ser129Pro S129P not reviewed Insufficiently evaluated not reviewed unknown Array rs1136700 2403 7472 0.321601 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-A Gly131Trp G131W not reviewed Insufficiently evaluated not reviewed unknown Array rs1136702 969 7474 0.129649 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HLA-A Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3173420 3821 7442 0.513437 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - HLA-A Asp140Tyr D140Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3173419 2575 7466 0.344897 18 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - HLA-A Asp140His D140H not reviewed Insufficiently evaluated not reviewed unknown Array rs3173419 5 80 0.0625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HLA-A Asn151Lys N151K not reviewed Insufficiently evaluated not reviewed unknown Array rs1059509 2959 7508 0.394113 28 0 39 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - HLA-A Ile166Thr I166T not reviewed Insufficiently evaluated not reviewed unknown Array rs1059516 1939 7494 0.25874 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-A Lys168Gln K168Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1059517 2449 7504 0.326359 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-A Arg169His R169H not reviewed Insufficiently evaluated not reviewed unknown Array rs1059520 2095 7500 0.279333 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-A Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array rs1059526 501 7502 0.0667822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-A Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array rs1059535 823 7504 0.109675 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-A His175Arg H175R not reviewed Insufficiently evaluated not reviewed unknown Array rs1059536 1661 7496 0.221585 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HLA-A Glu176Val E176V not reviewed Insufficiently evaluated not reviewed unknown Array rs9256983 4410 7502 0.587843 11 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-A Leu180Trp L180W not reviewed Insufficiently evaluated not reviewed unknown Array rs9260156 1993 7476 0.266586 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-A Asp185Glu D185E not reviewed Insufficiently evaluated not reviewed unknown Array rs1059542 6430 7486 0.858937 32 0 60 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-A Glu190Asp E190D not reviewed Insufficiently evaluated not reviewed unknown Array 15 7510 0.00199734 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-A Trp191Gly W191G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 7 Y 0 N - - HLA-A Thr202Met T202M not reviewed Insufficiently evaluated not reviewed unknown Array 1316 7508 0.17528 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HLA-A His216Tyr H216Y not reviewed Insufficiently evaluated not reviewed unknown Array 515 7508 0.0685935 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - -1 - 1 - 1 - - HLA-A Gly231Ser G231S not reviewed Insufficiently evaluated not reviewed unknown Array rs1059578 140 7510 0.0186418 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HLA-A Glu277Gln E277Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2231095 3532 7520 0.469681 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-A Leu300Pro L300P not reviewed Insufficiently evaluated not reviewed unknown Array rs35946537 4814 7524 0.639819 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HLA-A Ile306Val I306V not reviewed Insufficiently evaluated not reviewed unknown Array rs1136949 892 7520 0.118617 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-A Pro307His P307H not reviewed Insufficiently evaluated not reviewed unknown Array 358 7520 0.0476064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - HLA-A Ile312Leu I312L not reviewed Insufficiently evaluated not reviewed unknown Array rs41554316 807 7520 0.107314 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-A Leu318Phe L318F not reviewed Insufficiently evaluated not reviewed unknown Array rs3179982 3647 7520 0.484973 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-A Thr323Ala T323A not reviewed Insufficiently evaluated not reviewed unknown Array rs1137078 1501 7524 0.199495 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HLA-A Lys335Asn K335N not reviewed Insufficiently evaluated not reviewed unknown Array rs1137160 960 7512 0.127796 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-A Thr345Ser T345S not reviewed Insufficiently evaluated not reviewed unknown Array rs1137316 4706 7524 0.625465 41 0 65 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-A Val358Met V358M not reviewed Insufficiently evaluated not reviewed unknown Array rs1137631 1814 10758 0.168619 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-B Cys349Ser C349S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HLA-B Ala329Val A329V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - HLA-B Ala329Thr A329T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 3 N - - HLA-B Val306Ile V306I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -4 - 3 N - - HLA-B Ser304Pro S304P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HLA-B Lys292Glu K292E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 4 - 1 - - HLA-B Arg243Trp R243W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 4 - 1 - - HLA-B Ile218Val I218V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -4 - 3 N - - HLA-B Glu204Gln E204Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 3 N - - HLA-B Lys202Thr K202T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HLA-B Asp201Glu D201E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 3 N - - HLA-B Arg194Gly R194G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - HLA-B Glu187Val E187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 3 N - - HLA-B Glu187Gln E187Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 3 N - - HLA-B Arg180Leu R180L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - HLA-B Arg180Trp R180W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 3 N - - HLA-B Glu176Val E176V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 3 N - - HLA-B Arg169Leu R169L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 4 - 1 - - HLA-B Thr167Ser T167S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 4 - 2 - - HLA-B Arg155Ser R155S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HLA-B Tyr140Stop Y140X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 10 Y 4 N - - HLA-B Tyr140Ser Y140S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 3 N - - HLA-B Tyr140Phe Y140F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -4 - 3 N - - HLA-B Asp138Asn D138N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - HLA-B His137Tyr H137Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 4 - 7 - - HLA-B Ser121Arg S121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HLA-B Gly107Arg G107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 4 - 1 - - HLA-B Arg106Leu R106L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 4 - 1 - - HLA-B Asp98Tyr D98Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 3 N - - HLA-B Gln94Lys Q94K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 4 - 2 - - HLA-B Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 3 N - - HLA-B Tyr91Phe Y91F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -4 - 3 N - - HLA-B Tyr91Ser Y91S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 4 - 1 - - HLA-B Asn87Lys N87K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 4 - 4 - - HLA-B Asn87Asp N87D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 4 - 5 - - HLA-B Glu70Ala E70A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 4 - 3 - - HLA-B Glu69Ala E69A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 4 - 3 - - HLA-B Glu69Val E69V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 4 - 1 - - HLA-B Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 4 - 8 - - HLA-B Ser48Ala S48A not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - HLA-B Val36Met V36M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 4 - 8 - - HLA-B Ser35Ala S35A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 4 - 8 - - HLA-B Tyr33His Y33H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 4 - 1 - - HLA-B Ala15Gly A15G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 3 N - - HLA-B Ser14Trp S14W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 3 N - - HLA-B Val9Leu V9L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 4 - 8 - - HLA-B Met4Thr M4T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 4 - 10 - - HLA-B Leu2Arg L2R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - HLA-C Thr363Ala T363A not reviewed Insufficiently evaluated not reviewed unknown Array rs1130838 5500 7522 0.731189 45 0 72 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-C Cys350Ser C350S not reviewed Insufficiently evaluated not reviewed unknown Array rs35708511 5494 7524 0.730197 49 0 78 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - HLA-C Ala348Val A348V not reviewed Insufficiently evaluated not reviewed unknown Array rs41559915 217 10758 0.020171 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.513 - - 2 - 1 N - - HLA-C Met331Val M331V not reviewed Insufficiently evaluated not reviewed unknown Array 4869 10376 0.469256 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-C Ala330Val A330V not reviewed Insufficiently evaluated not reviewed unknown Array 3371 10150 0.332118 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-C Thr329Ala T329A not reviewed Insufficiently evaluated not reviewed unknown Array 506 10092 0.0501387 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-C Val328Ile V328I not reviewed Insufficiently evaluated not reviewed unknown Array 131 10328 0.012684 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - HLA-C Val319Ala V319A not reviewed Insufficiently evaluated not reviewed unknown Array rs17413387 6685 10716 0.623834 22 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-C Met309Val M309V not reviewed Insufficiently evaluated not reviewed unknown Array rs1050180 7272 10730 0.677726 7 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-C Ile308Asn I308N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10736 0.00102459 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - HLA-C Glu299Gly E299G not reviewed Insufficiently evaluated not reviewed unknown Array rs9264621 1096 10750 0.101953 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HLA-C Ser297Arg S297R not reviewed Insufficiently evaluated not reviewed unknown Array rs2308628 4712 10096 0.466719 16 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-C Gln291Pro Q291P not reviewed Insufficiently evaluated not reviewed unknown Array rs2308624 4851 10458 0.463855 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HLA-C Met285Val M285V not reviewed Insufficiently evaluated not reviewed unknown Array rs2308622 6197 10676 0.580461 20 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-C Gln277Glu Q277E not reviewed Insufficiently evaluated not reviewed unknown Array rs707908 6802 10748 0.632862 24 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-C Val272Met V272M not reviewed Insufficiently evaluated not reviewed unknown Array rs1050276 255 10758 0.0237033 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-C Arg243Trp R243W not reviewed Insufficiently evaluated not reviewed unknown Array rs1050328 3036 10728 0.282998 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HLA-C Leu218Val L218V not reviewed Insufficiently evaluated not reviewed unknown Array rs1050716 7707 10754 0.716664 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-C Pro208His P208H not reviewed Insufficiently evaluated not reviewed unknown Array rs1131096 7638 10756 0.710115 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-C Pro208Arg P208R not reviewed Insufficiently evaluated not reviewed unknown Array rs1131096 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-C Glu207Asp E207D not reviewed Insufficiently evaluated not reviewed unknown Array rs41547620 3 100 0.03 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-C Arg194Gly R194G not reviewed Insufficiently evaluated not reviewed unknown Array 206 10748 0.0191664 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.1 - - 6 Y 0 N - - HLA-C Thr187Met T187M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - HLA-C Thr187Pro T187P not reviewed Insufficiently evaluated not reviewed unknown Array rs1050685 1 10744 9.3075e-05 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - HLA-C Leu180Arg L180R not reviewed Insufficiently evaluated not reviewed unknown Array rs2308592 2577 10740 0.239944 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - HLA-C Leu180Gln L180Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2308592 1 36 0.0277778 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - HLA-C Ala176Val A176V not reviewed Insufficiently evaluated not reviewed unknown Array rs2308590 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - HLA-C Ala176Glu A176E not reviewed Insufficiently evaluated not reviewed unknown Array rs2308590 6446 10698 0.602543 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-C Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10698 0.000560852 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-C Leu171Trp L171W not reviewed Insufficiently evaluated not reviewed unknown Array rs1050366 6508 10368 0.627701 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-C Arg155Ser R155S not reviewed Insufficiently evaluated not reviewed unknown Array 3338 10608 0.314668 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - HLA-C Ser140Phe S140F not reviewed Insufficiently evaluated not reviewed unknown Array rs713032 3672 10636 0.345243 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - HLA-C Asp138Asn D138N not reviewed Insufficiently evaluated not reviewed unknown Array rs2308575 2998 10636 0.281873 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-C Tyr137His Y137H not reviewed Insufficiently evaluated not reviewed unknown Array rs2308574 1388 10602 0.130919 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - HLA-C Ser123Cys S123C not reviewed Insufficiently evaluated not reviewed unknown Array rs1131115 5 66 0.0757576 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 5 - - HLA-C Ser123Tyr S123Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1131115 9010 10532 0.855488 17 0 26 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-C Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array rs1131118 2410 10552 0.228393 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - HLA-C Leu119Ile L119I not reviewed Insufficiently evaluated not reviewed unknown Array rs1071649 1085 10558 0.102766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 2 - - HLA-C Asp114Ala D114A not reviewed Insufficiently evaluated not reviewed unknown Array rs1131123 3552 7524 0.472089 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-C Asn104Lys N104K not reviewed Insufficiently evaluated not reviewed unknown Array rs17408553 3307 7524 0.439527 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.09 - - 1 - 0 N - - HLA-C Ser101Asn S101N not reviewed Insufficiently evaluated not reviewed unknown Array rs2308557 3315 7524 0.44059 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-C Ala97Thr A97T not reviewed Insufficiently evaluated not reviewed unknown Array rs41543814 3044 7524 0.404572 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-C Lys90Asn K90N not reviewed Insufficiently evaluated not reviewed unknown Array rs28626310 1287 7524 0.171053 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - HLA-C Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 6 Y 1 N - - HLA-C Ala73Glu A73E not reviewed Insufficiently evaluated not reviewed unknown Array 1071 7520 0.14242 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HLA-C Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1050428 795 7518 0.105746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 0 N - - HLA-C Ser48Ala S48A not reviewed Insufficiently evaluated not reviewed unknown Array rs707911 4415 7508 0.588039 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-C Asp33Tyr D33Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9264668 4061 7386 0.549824 19 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - HLA-C Cys25Gly C25G not reviewed Insufficiently evaluated not reviewed unknown Array rs1131152 2082 7510 0.27723 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - HLA-C Thr20Ile T20I not reviewed Insufficiently evaluated not reviewed unknown Array rs41549413 223 7520 0.0296543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 1 - 1 - - HLA-C Gly16Ala G16A not reviewed Insufficiently evaluated not reviewed unknown Array rs2308529 5376 7520 0.714894 21 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-C Leu10Ile L10I not reviewed Insufficiently evaluated not reviewed unknown Array rs2308527 4467 7520 0.594016 17 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-C Ala8Thr A8T not reviewed Insufficiently evaluated not reviewed unknown Array rs2308525 5147 7522 0.68426 17 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-C Arg7Gln R7Q not reviewed Insufficiently evaluated not reviewed unknown Array 242 7520 0.0321808 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.119 - - 0 - 1 - 4 - - HLA-DMA Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array rs41555121 155 7524 0.0206007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DMA Arg210Cys R210C not reviewed Insufficiently evaluated not reviewed unknown Array rs17214044 99 7524 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HLA-DMA Gly181Ala G181A not reviewed Insufficiently evaluated not reviewed unknown Array rs6926628 154 7524 0.0204678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DMA Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array rs1063478 860 7524 0.114301 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-DMB Thr197Ile T197I not reviewed Insufficiently evaluated not reviewed unknown Array rs1042337 8467 10758 0.787042 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-DMB Ala162Glu A162E not reviewed Insufficiently evaluated not reviewed unknown Array rs2071555 319 10758 0.0296524 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 1 - 3 - - HLA-DMB Ser71Asn S71N not reviewed Insufficiently evaluated not reviewed unknown Array rs17617321 152 7522 0.0202074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DMB Asp49Val D49V not reviewed Insufficiently evaluated not reviewed unknown Array 152 7522 0.0202074 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - HLA-DMB Thr28Ala T28A not reviewed Insufficiently evaluated not reviewed unknown Array rs17583782 152 7518 0.0202181 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 1 - 4 - - HLA-DOB Val244Ile V244I not reviewed Insufficiently evaluated not reviewed unknown Array rs2621330 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - HLA-DOB Leu234Phe L234F not reviewed Insufficiently evaluated not reviewed unknown Array rs2070121 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DOB Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2071554 19 128 0.148438 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.754 - - 0 - 0 N - - HLA-DPA1 Thr259Pro T259P not reviewed Insufficiently evaluated not reviewed unknown Array rs1126769 1777 7508 0.236681 16 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HLA-DPA1 Phe191Val F191V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042308 2238 7520 0.297606 25 0 36 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-DPA1 Leu158Pro L158P not reviewed Insufficiently evaluated not reviewed unknown Array rs2308931 2174 7516 0.28925 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HLA-DPA1 Lys142Arg K142R not reviewed Insufficiently evaluated not reviewed unknown Array rs1042190 2175 7516 0.289383 17 0 29 0 0 - - - - - - - - - - - - - - - - 0.044 - - -3 - 0 N - - HLA-DPA1 Thr114Ala T114A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126542 2153 7520 0.286303 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-DPA1 Gln81Arg Q81R not reviewed Insufficiently evaluated not reviewed unknown Array rs1042178 2207 7522 0.293406 18 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DPA1 Met62Lys M62K not reviewed Insufficiently evaluated not reviewed unknown Array 63 7522 0.00837543 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 4 Y 0 N - - HLA-DPA1 Met62Leu M62L not reviewed Insufficiently evaluated not reviewed unknown Array rs2308911 57 7522 0.00757777 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - HLA-DPA1 Glu59Asp E59D not reviewed Insufficiently evaluated not reviewed unknown Array rs2308910 31 7520 0.00412234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - HLA-DPA1 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array 598 7520 0.0795213 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 5 - - HLA-DPB1 Leu37Val L37V not reviewed Insufficiently evaluated not reviewed unknown Array 2209 7508 0.294219 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DPB1 Phe38Tyr F38Y not reviewed Insufficiently evaluated not reviewed unknown Array 2168 7498 0.289144 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-DPB1 Gly40Stop G40X not reviewed Insufficiently evaluated not reviewed unknown Array 615 7500 0.082 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 1 - - HLA-DPB1 Gly40Val G40V not reviewed Insufficiently evaluated not reviewed unknown Array 635 7506 0.084599 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 - 3 - - HLA-DPB1 Glu62Gln E62Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12722018 206 7524 0.0273791 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - HLA-DPB1 Phe64Leu F64L not reviewed Insufficiently evaluated not reviewed unknown Array rs9277348 142 7524 0.0188729 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - HLA-DPB1 Phe64Tyr F64Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1042117 1615 7524 0.214646 15 0 20 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - HLA-DPB1 Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042121 3632 7524 0.482722 38 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-DPB1 Ala84Asp A84D not reviewed Insufficiently evaluated not reviewed unknown Array rs707958 3619 7524 0.480994 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-DPB1 Ala85Glu A85E not reviewed Insufficiently evaluated not reviewed unknown Array rs1042131 3429 7524 0.455742 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-DPB1 Ile94Leu I94L not reviewed Insufficiently evaluated not reviewed unknown Array rs1042136 1007 7522 0.133874 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HLA-DPB1 Lys98Glu K98E not reviewed Insufficiently evaluated not reviewed unknown Array rs1042140 1792 7522 0.238235 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DPB1 Lys98Arg K98R not reviewed Insufficiently evaluated not reviewed unknown Array rs12722027 198 7520 0.0263298 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HLA-DPB1 Met105Val M105V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042151 1215 7522 0.161526 25 0 24 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - HLA-DPB1 Met105Ile M105I not reviewed Insufficiently evaluated not reviewed unknown Array rs1042153 1570 7520 0.208777 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.055 - - -1 - 0 N - - HLA-DPB1 Gly113Val G113V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.298 - - 8 Y 1 N - - HLA-DPB1 Gly113Asp G113D not reviewed Insufficiently evaluated not reviewed unknown Array rs1042169 2723 7484 0.363843 31 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HLA-DPB1 Met116Val M116V not reviewed Insufficiently evaluated not reviewed unknown Array 1342 7484 0.179316 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 5 - - HLA-DPB1 Arg125Lys R125K not reviewed Insufficiently evaluated not reviewed unknown Array rs1126537 1892 7514 0.251797 24 0 39 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HLA-DPB1 Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array rs1042335 3003 7520 0.399335 28 0 40 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - HLA-DPB1 Arg223Gln R223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9276 1510 10758 0.140361 15 0 21 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - HLA-DPB1 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array rs11551421 461 10758 0.0428518 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DPB1 Ile244Thr I244T not reviewed Insufficiently evaluated not reviewed unknown Array rs3097675 297 10758 0.0276074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 3 - 1 N - - HLA-DQA1 Leu8Met L8M not reviewed Insufficiently evaluated not reviewed unknown Array rs1047989 5357 10758 0.497955 30 0 40 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 1 - - HLA-DQA1 Val17Met V17M not reviewed Insufficiently evaluated not reviewed unknown Array rs12722039 538 10758 0.0500093 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - HLA-DQA1 Asp25Gly D25G not reviewed Insufficiently evaluated not reviewed unknown Array rs12722042 537 10758 0.0499163 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 1 - - HLA-DQA1 Cys34Tyr C34Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1129740 4830 10744 0.449553 13 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 1 - - HLA-DQA1 Phe41Ser F41S not reviewed Insufficiently evaluated not reviewed unknown Array rs1071630 4562 10730 0.425163 17 0 22 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 - 3 - - HLA-DQA1 Tyr48Phe Y48F not reviewed Insufficiently evaluated not reviewed unknown Array rs12722051 1508 10726 0.140593 10 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 3 - - HLA-DQA1 Gln57Glu Q57E not reviewed Insufficiently evaluated not reviewed unknown Array rs10093 2835 10702 0.264904 19 0 28 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 3 - - HLA-DQA1 Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array rs1142323 2718 10676 0.25459 7 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 1 - - HLA-DQA1 Arg64Lys R64K not reviewed Insufficiently evaluated not reviewed unknown Array rs36219699 896 10674 0.0839423 7 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 2 - - HLA-DQA1 Tyr103Ser Y103S not reviewed Insufficiently evaluated not reviewed unknown Array rs1129808 2128 10064 0.211447 10 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - HLA-DQA1 Thr130Ile T130I not reviewed Insufficiently evaluated not reviewed unknown Array rs707952 1821 7524 0.242026 23 0 23 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 5 - - HLA-DQA1 Gln152His Q152H not reviewed Insufficiently evaluated not reviewed unknown Array rs707950 3057 7510 0.407057 19 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - HLA-DQA1 Ser153Ala S153A not reviewed Insufficiently evaluated not reviewed unknown Array 16 7510 0.00213049 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - HLA-DQA1 Phe179Leu F179L not reviewed Insufficiently evaluated not reviewed unknown Array rs707949 992 7510 0.132091 4 0 4 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-DQA1 Asp184Glu D184E not reviewed Insufficiently evaluated not reviewed unknown Array rs707963 1108 7512 0.147497 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - HLA-DQA1 Ile186Ser I186S not reviewed Insufficiently evaluated not reviewed unknown Array rs707962 1000 7508 0.133191 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - HLA-DQA1 Gln198Lys Q198K not reviewed Insufficiently evaluated not reviewed unknown Array rs2308891 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - HLA-DQA1 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array rs9272785 1112 7520 0.147872 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HLA-DQA1 Met230Val M230V not reviewed Insufficiently evaluated not reviewed unknown Array rs35029979 5259 7516 0.699707 22 0 41 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-DQA1 Gln241Arg Q241R not reviewed Insufficiently evaluated not reviewed unknown Array rs9272793 3161 7506 0.42113 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-DQA2 Thr64Met T64M not reviewed Insufficiently evaluated not reviewed unknown Array rs79517313 43 7524 0.00571505 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - HLA-DQA2 Ala183Asp A183D not reviewed Insufficiently evaluated not reviewed unknown Array 316 7520 0.0420213 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-DQA2 Asp184Glu D184E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - HLA-DQA2 Leu219Val L219V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DQA2 Ala222Thr A222T not reviewed Insufficiently evaluated not reviewed unknown Array rs17213351 241 7524 0.0320308 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - HLA-DQA2 Val227Ala V227A not reviewed Insufficiently evaluated not reviewed unknown Array rs9276436 1069 7524 0.142079 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - HLA-DQA2 Gly247Asp G247D not reviewed Insufficiently evaluated not reviewed unknown Array rs2071800 475 7524 0.0631313 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - HLA-DQB1 Gln256Arg Q256R not reviewed Insufficiently evaluated not reviewed unknown Array rs1130432 2190 9930 0.220544 18 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-DQB1 Gln253His Q253H not reviewed Insufficiently evaluated not reviewed unknown Array rs1140343 2856 9860 0.289655 19 0 28 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - HLA-DQB1 Arg252His R252H not reviewed Insufficiently evaluated not reviewed unknown Array rs1140342 2636 9882 0.266748 22 0 33 2 2 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - May be associated with narcolepsy. HLA-DQB1 Val235Ile V235I not reviewed Insufficiently evaluated not reviewed unknown Array rs1049163 1739 9756 0.178249 8 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - HLA-DQB1 Ser233Gly S233G not reviewed Insufficiently evaluated not reviewed unknown Array 798 9788 0.0815284 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - HLA-DQB1 Thr217Ile T217I not reviewed Insufficiently evaluated not reviewed unknown Array 1917 10730 0.178658 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - HLA-DQB1 Ser214Asn S214N not reviewed Insufficiently evaluated not reviewed unknown Array 3604 10736 0.335693 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-DQB1 Arg199His R199H not reviewed Insufficiently evaluated not reviewed unknown Array rs701564 2055 10756 0.191056 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HLA-DQB1 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array rs1063323 3472 10726 0.323699 11 0 11 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HLA-DQB1 Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41544112 504 10508 0.0479635 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - HLA-DQB1 Gln158His Q158H not reviewed Insufficiently evaluated not reviewed unknown Array rs41542812 250 10232 0.0244332 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - HLA-DQB1 Gly157Ser G157S not reviewed Insufficiently evaluated not reviewed unknown Array rs1049107 1935 10136 0.190904 20 0 22 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - HLA-DQB1 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array rs1049100 1768 9846 0.179565 14 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - HLA-DQB1 Phe119Tyr F119Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17412833 2814 8700 0.323448 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - HLA-DQB1 Ala118Gly A118G not reviewed Insufficiently evaluated not reviewed unknown Array 694 8726 0.0795324 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 8 - - HLA-DQB1 Thr109Arg T109R not reviewed Insufficiently evaluated not reviewed unknown Array rs1130392 1375 9814 0.140106 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - HLA-DQB1 Leu107Val L107V not reviewed Insufficiently evaluated not reviewed unknown Array 453 9670 0.0468459 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - HLA-DQB1 Thr103Ala T103A not reviewed Insufficiently evaluated not reviewed unknown Array rs1130390 1363 9880 0.137955 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - HLA-DQB1 Gly102Arg G102R not reviewed Insufficiently evaluated not reviewed unknown Array rs1130386 4521 9960 0.453916 3 0 3 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 1 - - HLA-DQB1 Asp89Val D89V not reviewed Insufficiently evaluated not reviewed unknown Array 2352 10130 0.232182 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - HLA-DQB1 Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array 2576 10490 0.245567 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - HLA-DQB1 Tyr62His Y62H not reviewed Insufficiently evaluated not reviewed unknown Array rs1049069 2839 10346 0.274406 5 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 1 - - HLA-DQB1 Thr60Ser T60S not reviewed Insufficiently evaluated not reviewed unknown Array rs9274405 677 10442 0.0648343 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - HLA-DQB1 Met46Leu M46L not reviewed Insufficiently evaluated not reviewed unknown Array rs1130368 1297 10426 0.124401 3 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 3 - - HLA-DQB1 Gly45Ala G45A not reviewed Insufficiently evaluated not reviewed unknown Array rs1130375 1807 10410 0.173583 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HLA-DQB1 Phe41Tyr F41Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9274407 8044 10282 0.782338 6 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - HLA-DQB1 Met24Ile M24I not reviewed Insufficiently evaluated not reviewed unknown Array rs1049059 1948 9874 0.197286 14 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 1 - - HLA-DQB1 Val15Ala V15A not reviewed Insufficiently evaluated not reviewed unknown Array rs3189152 2629 9800 0.268265 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - HLA-DQB1 Asp12Gly D12G not reviewed Insufficiently evaluated not reviewed unknown Array rs1049057 3913 9776 0.400266 7 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 1 - - HLA-DQB1 Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array rs1049056 1897 9754 0.194484 8 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 - 1 - - HLA-DRA Val16Leu V16L not reviewed Insufficiently evaluated not reviewed unknown Array rs16822586 243 10758 0.0225878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - HLA-DRA Leu242Val L242V not reviewed Insufficiently evaluated not reviewed unknown Array rs7192 4519 7524 0.600611 46 0 70 1 1 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DRB1 Phe264Leu F264L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Thr262Arg T262R not reviewed Insufficiently evaluated not reviewed unknown Array rs9269744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-DRB1 Arg251Lys R251K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HLA-DRB1 Arg220Trp R220W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HLA-DRB1 Glu216Gln E216Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DRB1 Val209Met V209M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Gln178His Q178H not reviewed Insufficiently evaluated not reviewed unknown Array rs2308771 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DRB1 Met171Val M171V not reviewed Insufficiently evaluated not reviewed unknown Array rs2308769 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Ala169Thr A169T not reviewed Insufficiently evaluated not reviewed unknown Array rs2308768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DRB1 Leu162Arg L162R not reviewed Insufficiently evaluated not reviewed unknown Array rs707954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HLA-DRB1 Gln125His Q125H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DRB1 His110Tyr H110Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DRB1 Ala103Glu A103E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-DRB1 Ala100Thr A100T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - HLA-DRB1 Gln99Arg Q99R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Ile96Leu I96L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DRB1 Ile96Phe I96F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HLA-DRB1 Arg77Gln R77Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - HLA-DRB1 Phe76Tyr F76Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HLA-DRB1 Val73Leu V73L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Ser66Tyr S66Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-DRB1 Ser66Thr S66T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - HLA-DRB1 Tyr61His Y61H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DRB1 Phe55Tyr F55Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HLA-DRB1 Ser29Ala S29A not reviewed Insufficiently evaluated not reviewed unknown Array rs9270299 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DRB1 Met20Thr M20T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - HLA-DRB1 Thr13Ala T13A not reviewed Insufficiently evaluated not reviewed unknown Array rs9270303 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DRB1 Gly8Glu G8E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HLA-DRB1 Leu6Phe L6F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Lys5Arg K5R not reviewed Insufficiently evaluated not reviewed unknown Array rs9270305 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HLA-DRB5 Val265Leu V265L not reviewed Insufficiently evaluated not reviewed unknown Array 2733 6824 0.400498 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DRB5 Thr262Arg T262R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-DRB5 Thr262Lys T262K not reviewed Insufficiently evaluated not reviewed unknown Array 866 7358 0.117695 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 1 - 2 - - HLA-DRB5 His260Gln H260Q not reviewed Insufficiently evaluated not reviewed unknown Array 1889 7338 0.257427 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-DRB5 Lys251Arg K251R not reviewed Insufficiently evaluated not reviewed unknown Array 404 4280 0.0943925 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HLA-DRB5 Glu216Gln E216Q not reviewed Insufficiently evaluated not reviewed unknown Array 86 9300 0.00924731 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - HLA-DRB5 Pro212Leu P212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - 7 Y 2 N - - HLA-DRB5 Thr210Met T210M not reviewed Insufficiently evaluated not reviewed unknown Array 1366 9628 0.141878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-DRB5 Val209Met V209M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB5 Thr186Ile T186I not reviewed Insufficiently evaluated not reviewed unknown Array rs41541115 240 9640 0.0248963 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 3 - 0 N - - HLA-DRB5 Ala169Thr A169T not reviewed Insufficiently evaluated not reviewed unknown Array 2702 10540 0.256357 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-DRB5 Ser164Gly S164G not reviewed Insufficiently evaluated not reviewed unknown Array rs41545016 7356 10534 0.69831 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-DRB5 Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - HLA-DRB5 Asn149Ser N149S not reviewed Insufficiently evaluated not reviewed unknown Array 2612 9890 0.264105 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - HLA-DRB5 Thr137Pro T137P not reviewed Insufficiently evaluated not reviewed unknown Array 6043 9288 0.650624 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HLA-DRB5 Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 6 Y 3 - 2 - - HLA-DRB5 Phe96Leu F96L not reviewed Insufficiently evaluated not reviewed unknown Array 4674 10274 0.454935 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DRB5 Thr80Arg T80R not reviewed Insufficiently evaluated not reviewed unknown Array 1160 10522 0.110245 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.735 - - 3 - 0 N - - HLA-DRB5 Leu67Val L67V not reviewed Insufficiently evaluated not reviewed unknown Array rs1059580 5891 8922 0.660278 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - HLA-DRB5 Asp66Asn D66N not reviewed Insufficiently evaluated not reviewed unknown Array rs707956 7 28 0.25 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-DRB5 Asp59Gly D59G not reviewed Insufficiently evaluated not reviewed unknown Array rs41546317 680 6742 0.10086 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HLA-DRB5 Phe55Tyr F55Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1059572 381 7106 0.0536167 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-DRB5 Tyr42Phe Y42F not reviewed Insufficiently evaluated not reviewed unknown Array rs1136760 2 32 0.0625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-DRB5 Gln38Lys Q38K not reviewed Insufficiently evaluated not reviewed unknown Array rs41542913 287 5826 0.0492619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DRB5 Arg35Cys R35C not reviewed Insufficiently evaluated not reviewed unknown Array rs41560013 301 6278 0.0479452 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.177 - - 8 Y 1 - 3 - - HLA-DRB5 Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array 886 10758 0.0823573 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HLA-DRB5 Ala29Ser A29S not reviewed Insufficiently evaluated not reviewed unknown Array 800 10758 0.0743633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-DRB5 Leu28Phe L28F not reviewed Insufficiently evaluated not reviewed unknown Array 1310 10758 0.12177 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DRB5 Pro25Arg P25R not reviewed Insufficiently evaluated not reviewed unknown Array 958 10758 0.08905 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - HLA-DRB5 Met20Thr M20T not reviewed Insufficiently evaluated not reviewed unknown Array rs17211043 3185 10758 0.296059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - HLA-DRB5 Lys14Asn K14N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10684 0.00149757 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DRB5 Lys14Met K14M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DRB5 Lys14Glu K14E not reviewed Insufficiently evaluated not reviewed unknown Array 7838 10618 0.73818 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-E Gly128Arg G128R not reviewed Insufficiently evaluated not reviewed unknown Array rs1264457 4221 7518 0.561453 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HLA-F Arg69Pro R69P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-F Thr237Ile T237I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-F Pro272Ser P272S not reviewed Insufficiently evaluated not reviewed unknown Array rs1736924 8776 10756 0.815917 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-F Pro207Leu P207L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HLA-F Pro299Leu P299L not reviewed Insufficiently evaluated not reviewed unknown Array rs57237143 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HLA-F Asn353His N353H not reviewed Insufficiently evaluated not reviewed unknown Array rs3734814 807 7426 0.108672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-F Asn353Ile N353I not reviewed Insufficiently evaluated not reviewed unknown Array rs3734815 824 7420 0.111051 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HLA-F Arg385Gln R385Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17875384 425 7176 0.0592252 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - HLA-F Arg413Cys R413C not reviewed Insufficiently evaluated not reviewed unknown Array 7 7078 0.000988979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - HLA-G Thr55Ser T55S not reviewed Insufficiently evaluated not reviewed unknown Array rs41551813 462 7518 0.0614525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.254 - - -2 - 0 N - - HLA-G Leu134Ile L134I not reviewed Insufficiently evaluated not reviewed unknown Array rs12722477 1067 7520 0.141888 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - HLA-G Thr282Met T282M not reviewed Insufficiently evaluated not reviewed unknown Array rs12722482 522 10758 0.048522 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - HLCS Val96Ile V96I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732502 426 10758 0.0395984 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HLCS Glu42Asp E42D not reviewed Insufficiently evaluated not reviewed unknown Array rs61732504 415 10758 0.0385759 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.14 Y - -2 - 2 - 5 - - HLTF Arg819His R819H not reviewed Insufficiently evaluated not reviewed unknown Array rs2229361 295 10754 0.0274317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HLTF His560Leu H560L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - HLX Ser116Pro S116P not reviewed Insufficiently evaluated not reviewed unknown Array rs12141189 2246 10726 0.209398 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.806 - - 3 - 0 N - - HLX Gln125His Q125H not reviewed Insufficiently evaluated not reviewed unknown Array rs62621984 337 10748 0.0313547 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.792 - - -1 - 1 N - - HLX Pro356Leu P356L not reviewed Insufficiently evaluated not reviewed unknown Array rs2738755 4084 10758 0.379624 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - HLX Ala387Gly A387G not reviewed Insufficiently evaluated not reviewed unknown Array rs11578466 1368 10758 0.127161 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.693 - - 1 - 0 N - - HLX Arg393Gln R393Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - HMCN1 Asn262Ser N262S not reviewed Insufficiently evaluated not reviewed unknown Array rs60502467 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.776 Y - 0 - 2 N - - HMCN1 Asn1007Ile N1007I not reviewed Insufficiently evaluated not reviewed unknown Array rs34460141 326 10758 0.030303 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - HMCN1 Thr1056Ala T1056A not reviewed Insufficiently evaluated not reviewed unknown Array rs7539719 1932 10758 0.179587 13 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - HMCN1 Val1184Phe V1184F not reviewed Insufficiently evaluated not reviewed unknown Array rs12239296 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.288 Y - 3 - 2 N - - HMCN1 Thr1480Ile T1480I not reviewed Insufficiently evaluated not reviewed unknown Array rs58293393 286 10758 0.0265849 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - HMCN1 Ile2418Thr I2418T not reviewed Insufficiently evaluated not reviewed unknown Array rs12129650 5653 10758 0.525469 44 0 64 0 0 - - - - - - - - - - - - Y - - - 0.468 Y - 3 - 1 N - - HMCN1 Arg2837Trp R2837W not reviewed Insufficiently evaluated not reviewed unknown Array rs74136012 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - HMCN1 Glu2893Gly E2893G not reviewed Insufficiently evaluated not reviewed unknown Array rs10798035 5956 10758 0.553635 43 0 67 0 0 5 Y - - - - - - - - - - Y - - - 0.91 Y - 6 Y 2 N - - HMCN1 Lys2953Stop K2953X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - HMCN1 Asp3174Glu D3174E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - -2 - 3 N - - HMCN1 Lys4352Arg K4352R not reviewed Insufficiently evaluated not reviewed unknown Array 149 10756 0.0138527 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -3 - 1 N - - HMCN1 Gln4437Arg Q4437R not reviewed Insufficiently evaluated not reviewed unknown Array rs10911825 4005 10756 0.37235 36 0 47 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 0 - 2 N - - HMCN1 Gln4650His Q4650H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.818 Y - -1 - 2 N - - HMCN1 Ala4720Thr A4720T not reviewed Insufficiently evaluated not reviewed unknown Array rs6693069 791 10758 0.0735267 6 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - HMCN1 Asp5087Val D5087V not reviewed Insufficiently evaluated not reviewed unknown Array rs41317507 1026 10758 0.0953709 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.351 Y - 8 Y 1 N - - HMCN1 His5244Gln H5244Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.435 Y - -1 - 2 N - - HMCN1 Asp5440Asn D5440N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - -1 - 3 N - - HMCN1 Gln5462Arg Q5462R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 0 - 1 N - - HMGA2 Lys103Glu K103E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMGB1L1 Tyr16Stop Y16X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HMGB4 Glu18Ala E18A not reviewed Insufficiently evaluated not reviewed unknown Array rs10379 8891 10758 0.826455 52 0 96 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HMGB4 Glu92Ala E92A not reviewed Insufficiently evaluated not reviewed unknown Array rs10379 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HMGB4 Asn115Lys N115K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HMGB4 Asn41Lys N41K not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HMGB4 Asp136Glu D136E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HMGB4 Asp62Glu D62E not reviewed Insufficiently evaluated not reviewed unknown Array rs74067992 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HMGB4 Tyr170His Y170H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HMGB4 Tyr96His Y96H not reviewed Insufficiently evaluated not reviewed unknown Array rs57068937 265 10758 0.0246328 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HMGCS2 Gly339Val G339V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HMGN1 Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array rs34613278 826 10596 0.0779539 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - HMGXB3 Val263Ile V263I not reviewed Insufficiently evaluated not reviewed unknown Array rs2241698 347 3232 0.107364 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HMGXB3 Val466Leu V466L not reviewed Insufficiently evaluated not reviewed unknown Array rs35341726 208 3234 0.0643166 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HMGXB3 Ala488Val A488V not reviewed Insufficiently evaluated not reviewed unknown Array rs6579767 2707 3234 0.837044 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HMGXB4 Gly165Val G165V not reviewed Insufficiently evaluated not reviewed unknown Array rs1053593 5270 10758 0.489868 33 0 45 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - HMGXB4 Gly56Val G56V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HMGXB4 Asp288Ala D288A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HMGXB4 Asp397Ala D397A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 5 Y 1 N - - HMHA1 Arg139His R139H not reviewed Insufficiently evaluated not reviewed unknown Array rs1801284 4387 10744 0.408321 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HMHA1 Glu259Asp E259D not reviewed Insufficiently evaluated not reviewed unknown Array rs2074442 8635 10728 0.804903 55 0 93 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - HMHA1 Ala426Val A426V not reviewed Insufficiently evaluated not reviewed unknown Array 143 10474 0.0136529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - HMHA1 Ser439Gly S439G not reviewed Insufficiently evaluated not reviewed unknown Array rs7251797 4777 10390 0.459769 36 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HMHA1 Met515Ile M515I not reviewed Insufficiently evaluated not reviewed unknown Array rs36084354 639 10758 0.0593977 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.44 - - -1 - 0 N - - HMHB1 His16Tyr H16Y not reviewed Insufficiently evaluated not reviewed unknown Array rs161557 2242 9648 0.23238 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HMMR Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array rs299284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HMMR Arg77Cys R77C not reviewed Insufficiently evaluated not reviewed unknown Array rs299284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HMMR Arg92Cys R92C not reviewed Insufficiently evaluated not reviewed unknown Array rs299284 10 128 0.078125 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 1 N - - HMMR Arg93Cys R93C not reviewed Insufficiently evaluated not reviewed unknown Array rs299284 1173 10758 0.109035 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HMMR Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Ala240Val A240V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Ala255Val A255V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HMMR Ala256Val A256V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10740 0.00726257 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Asn234Lys N234K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HMMR Asn305Lys N305K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.309 - - 1 - 2 - 3 - - HMMR Asn320Lys N320K not reviewed Insufficiently evaluated not reviewed unknown Array rs2303077 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 1 - 3 - - HMMR Asn321Lys N321K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HMMR Val282Ala V282A not reviewed Insufficiently evaluated not reviewed unknown Array rs299290 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Val353Ala V353A not reviewed Insufficiently evaluated not reviewed unknown Array rs299290 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Val368Ala V368A not reviewed Insufficiently evaluated not reviewed unknown Array rs299290 32 122 0.262295 29 0 31 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - HMMR Val369Ala V369A not reviewed Insufficiently evaluated not reviewed unknown Array rs299290 2835 10758 0.263525 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HMMR Ala398Val A398V not reviewed Insufficiently evaluated not reviewed unknown Array rs299295 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Ala469Val A469V not reviewed Insufficiently evaluated not reviewed unknown Array rs299295 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMMR Ala484Val A484V not reviewed Insufficiently evaluated not reviewed unknown Array rs299295 22 126 0.174603 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HMMR Ala485Val A485V not reviewed Insufficiently evaluated not reviewed unknown Array rs299295 2741 10758 0.254787 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - HMOX1 Glu29Asp E29D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - -2 - 2 N - - HN1 His168Arg H168R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HN1L Gly143Ser G143S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.373 - - 2 - 1 N - - HNF1A Ile27Leu I27L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1169288 2794 10752 0.259859 30 0 35 2 2 - - - - - - - - - - - - Y Y - Y - Y - -2 - 3 N 9 - - HNF1A Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800574 205 10714 0.0191338 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 10 - - HNF1A Val380Asp V380D not reviewed Insufficiently evaluated not reviewed unknown Array 5 82 0.0609756 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 - 1 - - HNF1A Ser487Asn S487N not reviewed Insufficiently evaluated not reviewed unknown Array rs2464196 2651 10758 0.246421 17 0 19 2 2 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 10 - - HNF1A Ser574Gly S574G not reviewed Insufficiently evaluated not reviewed unknown Array rs1169305 10573 10720 0.986287 45 0 88 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - HNF4A Ile431Val I431V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HNF4A Ile441Val I441V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HNF4A Ile453Val I453V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HNF4A Ile463Val I463V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.386 Y - -4 - 2 N - - HNF4G Ser29Asn S29N not reviewed Insufficiently evaluated not reviewed unknown Array rs2943549 6387 9530 0.670199 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HNF4G Met227Ile M227I not reviewed Insufficiently evaluated not reviewed unknown Array rs1805098 7359 10758 0.684049 34 0 52 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HNMT Thr105Ile T105I pathogenic Insufficiently evaluated pathogenic other Array rs11558538 828 10758 0.076966 8 0 7 6 5 1 Y 2 Y 0 Y - - 2 - 3 - - Y - - 0.821 - - 3 - 2 N - - Initial reports implicated this in causing increased susceptibility to asthma, but later reports contradict this. The variant does not appear to be significantly pathogenic, despite computational and experimental evidence that the variant affects enzyme activity. HNRNPA1 Gly296Ala G296A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HNRNPA1L2 Asn215Asp N215D not reviewed Insufficiently evaluated not reviewed unknown Array rs9536212 3270 10444 0.313098 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HNRNPA1L2 Tyr289Cys Y289C not reviewed Insufficiently evaluated not reviewed unknown Array rs78872760 756 8170 0.0925337 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HNRNPA3 Gly287Glu G287E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPAB Gly260Glu G260E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPAB Gly262Glu G262E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPC Glu241Gly E241G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPC Glu254Gly E254G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - HNRNPCL1 Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array rs2359486 6 58 0.103448 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HNRNPCL1 Gln262Arg Q262R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HNRNPCL1 Val258Asp V258D not reviewed Insufficiently evaluated not reviewed unknown Array rs2076063 3 84 0.0357143 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HNRNPCL1 Asp255Gly D255G not reviewed Insufficiently evaluated not reviewed unknown Array rs74055698 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.706 - - 4 Y 1 N - - HNRNPCL1 Asp232His D232H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - HNRNPCL1 Lys216Arg K216R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - HNRNPCL1 Phe115Leu F115L not reviewed Insufficiently evaluated not reviewed unknown Array 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - HNRNPCL1 Gly114Asp G114D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HNRNPCL1 Gly114Ser G114S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - HNRNPCL1 Tyr105Cys Y105C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.566 - - 6 Y 1 N - - HNRNPCL1 Val5Ile V5I not reviewed Insufficiently evaluated not reviewed unknown Array rs41279492 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HNRNPF Arg212Gly R212G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - HNRNPH2 Gln414Stop Q414X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HNRNPH3 Glu249Asp E249D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HNRNPH3 Glu264Asp E264D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HNRNPH3 Gly269Ala G269A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HNRNPH3 Gly284Ala G284A not reviewed Insufficiently evaluated not reviewed unknown Array rs16925347 717 10758 0.0666481 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HNRNPUL1 Tyr137Cys Y137C not reviewed Insufficiently evaluated not reviewed unknown Array rs62120961 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - 6 Y 1 N - - HNRNPUL1 Tyr37Cys Y37C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPUL1 Pro677Ser P677S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HNRNPUL1 Pro777Ser P777S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HNRNPUL1 Pro701Ala P701A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HNRNPUL1 Pro801Ala P801A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HNRNPUL2 Leu613Met L613M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - -3 - 2 N - - HNRPDL Thr119Ile T119I not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HOMER3 Ser306Arg S306R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HOMER3 Ser339Arg S339R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HOMER3 Ser342Arg S342R not reviewed Insufficiently evaluated not reviewed unknown Array rs1059240 120 120 1 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HOMER3 Ala188Ser A188S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HOMER3 Ala224Ser A224S not reviewed Insufficiently evaluated not reviewed unknown Array 106 9824 0.0107899 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 0 N - - HOMEZ Asp538Glu D538E not reviewed Insufficiently evaluated not reviewed unknown Array rs3208861 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HOMEZ Glu537Asp E537D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HOMEZ Arg502Gln R502Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1055061 994 10566 0.0940753 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HOMEZ Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array rs10131813 4141 10182 0.406698 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HOOK1 Leu218Met L218M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.138 - - -3 - 0 N - - HOOK2 His488Gln H488Q not reviewed Insufficiently evaluated not reviewed unknown Array rs897804 2871 9880 0.290587 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.435 - - -1 - 0 N - - HOOK2 Gly10Arg G10R not reviewed Insufficiently evaluated not reviewed unknown Array 7 9860 0.000709939 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 3 - 3 - - HOPX Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array rs4371677 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HORMAD1 Thr267Ile T267I not reviewed Insufficiently evaluated not reviewed unknown Array rs1336900 3722 10756 0.346039 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HORMAD2 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array rs34305723 144 9490 0.0151739 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - HOXA1 Glu189Ala E189A not reviewed Insufficiently evaluated not reviewed unknown Array rs17500494 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.866 Y Y 3 - 5 - 1 - - HOXA1 Arg121Ser R121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - HOXA1 Arg73His R73H not reviewed Insufficiently evaluated not reviewed unknown Array rs10951154 7834 10758 0.728202 44 0 73 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - HOXA3 Ala58Ser A58S not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 2 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - HOXA4 Leu140Pro L140P not reviewed Insufficiently evaluated not reviewed unknown Array 280 290 0.965517 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 2 N - - HOXA4 Gly111Val G111V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 8 Y 3 N - - HOXA4 Thr70Pro T70P not reviewed Insufficiently evaluated not reviewed unknown Array 4899 5080 0.96437 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 4 Y 2 N - - HOXA4 Gly65Asp G65D not reviewed Insufficiently evaluated not reviewed unknown Array 429 4394 0.0976331 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 4 Y 2 N - - HOXA7 Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array rs2301721 6591 10744 0.613459 27 0 48 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 2 N - - HOXA9 His71Pro H71P not reviewed Insufficiently evaluated not reviewed unknown Array 49 10444 0.00469169 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 4 - 1 - - HOXB1 Glu265Gly E265G not reviewed Insufficiently evaluated not reviewed unknown Array rs7226137 10588 10758 0.984198 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HOXB1 Gln103His Q103H not reviewed Insufficiently evaluated not reviewed unknown Array rs12939811 1603 10758 0.149005 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.686 - - -1 - 0 N - - HOXB2 Arg261Pro R261P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - HOXB3 Pro82Thr P82T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229304 6583 10748 0.612486 36 0 55 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HOXB7 Ala49Val A49V not reviewed Insufficiently evaluated not reviewed unknown Array 336 10654 0.0315375 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HOXB7 Thr9Ala T9A not reviewed Insufficiently evaluated not reviewed unknown Array rs7406910 9354 10582 0.883954 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HOXB8 Gln195Stop Q195X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HOXC10 Asn212Ser N212S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10752 0.000651041 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HOXC4 Ile134Val I134V not reviewed Insufficiently evaluated not reviewed unknown Array rs75256744 1435 10756 0.133414 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HOXC4 Asn150Ser N150S not reviewed Insufficiently evaluated not reviewed unknown Array rs17854635 149 10756 0.0138527 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HOXC5 Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 7 Y 2 N - - HOXC6 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - HOXC6 Pro42Ser P42S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HOXD1 Ala296Thr A296T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HOXD12 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 126 9874 0.0127608 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HOXD12 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35817516 804 9118 0.0881772 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HOXD4 Ser123Pro S123P not reviewed Insufficiently evaluated not reviewed unknown Array rs34727427 3251 10506 0.309442 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HOXD8 Cys124Tyr C124Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - HOXD8 Asn290Ile N290I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - HPD Val340Leu V340L not reviewed Insufficiently evaluated not reviewed unknown Array rs36023382 120 10758 0.0111545 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HPD Asp167Asn D167N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -1 - 1 N - - HPD Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11833399 275 10758 0.0255624 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 2 - 2 - - HPD Thr33Ala T33A not reviewed Insufficiently evaluated not reviewed unknown Array rs1154510 9701 10758 0.901748 54 0 99 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 8 - - HPR Ala156Val A156V not reviewed Insufficiently evaluated not reviewed unknown Array rs1049933 348 9724 0.0357877 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - HPR Arg203Lys R203K not reviewed Insufficiently evaluated not reviewed unknown Array rs2021171 732 10012 0.0731123 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - HPR Val283Ala V283A not reviewed Insufficiently evaluated not reviewed unknown Array rs1065360 836 10274 0.0813705 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HPR His339Asp H339D not reviewed Insufficiently evaluated not reviewed unknown Array rs12646 2765 10072 0.274523 33 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HPS1 Gln603Arg Q603R not reviewed Insufficiently evaluated not reviewed unknown Array rs2296436 21 128 0.164062 19 0 22 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - HPS1 Pro491Arg P491R not reviewed Insufficiently evaluated not reviewed unknown Array rs2296434 1029 10756 0.0956675 16 0 18 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 5 Y 4 - 2 - - HPS1 Gly283Ala G283A not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.026 Y Y 1 - 2 N - - HPS1 Gly283Trp G283W not reviewed Insufficiently evaluated not reviewed unknown Array rs11592273 637 10758 0.0592117 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.026 Y Y 7 Y 3 - 3 - - HPS1 Arg260Gln R260Q not reviewed Insufficiently evaluated not reviewed unknown Array 105 10756 0.00976199 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 3 - 1 - - HPS1 Val4Ala V4A not reviewed Insufficiently evaluated not reviewed unknown Array rs58548334 371 10758 0.034486 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.827 Y Y 2 - 4 - 1 - - HPS3 Glu275Lys E275K not reviewed Insufficiently evaluated not reviewed unknown Array rs34388030 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 0 - 4 N - - HPS3 Gly739Arg G739R not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.777 Y Y 6 Y 3 N - - HPS4 Arg623His R623H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HPS4 Arg628His R628H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.335 Y Y 1 - 3 N - - HPS4 Gln620His Q620H not reviewed Insufficiently evaluated not reviewed unknown Array rs1894704 9338 10758 0.868005 54 0 91 0 0 1 Y - - - - - - - - - - Y - - - 0.859 Y Y -1 - 3 N - - HPS4 Gln625His Q625H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.334 Y Y -1 - 4 - 1 - - HPS4 His601Tyr H601Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1894706 9342 10758 0.868377 54 0 91 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - HPS4 His606Tyr H606Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - 0.999 Y Y -1 - 5 - 1 - - HPS4 Val547Met V547M not reviewed Insufficiently evaluated not reviewed unknown Array rs5752330 8835 10758 0.821249 50 0 79 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HPS4 Val552Met V552M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.96 Y Y 0 - 5 - 1 - - HPS4 Leu438Val L438V not reviewed Insufficiently evaluated not reviewed unknown Array rs2014410 4032 10758 0.374791 23 0 26 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HPS4 Leu443Val L443V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - 0.042 Y Y 0 - 3 - 1 - - HPS4 Gly342Val G342V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - HPS4 Gly347Val G347V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.076 Y Y 8 Y 2 N - - HPS4 Glu224Gly E224G not reviewed Insufficiently evaluated not reviewed unknown Array rs713998 8835 10758 0.821249 54 0 86 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - HPS4 Glu229Gly E229G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - HPS5 Arg1077Trp R1077W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 - Y 7 Y 3 N - - HPS5 Arg963Trp R963W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - HPS5 Glu520Lys E520K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - HPS5 Glu634Lys E634K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - HPS5 Leu303Met L303M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - HPS5 Leu417Met L417M not reviewed Insufficiently evaluated not reviewed unknown Array rs7128017 1408 10758 0.130879 22 0 25 0 0 - - - - - - - - - - - - Y - - - 0.956 - Y -3 - 3 - 1 - - HPS6 Arg606Cys R606C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 8 Y 3 N - - HPSE Lys307Arg K307R not reviewed Insufficiently evaluated not reviewed unknown Array rs11099592 8549 10742 0.795848 54 0 98 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - HPSE Lys161Gln K161Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - -2 - 1 N - - HPSE2 Tyr579Phe Y579F not reviewed Insufficiently evaluated not reviewed unknown Array rs10883100 5753 10758 0.534765 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - HPSE2 Ala315Thr A315T not reviewed Insufficiently evaluated not reviewed unknown Array rs17110744 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.406 - - 1 - 2 - 5 - - HPSE2 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - HPX Arg83Trp R83W not reviewed Insufficiently evaluated not reviewed unknown Array rs12117 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - HPX Asp52Asn D52N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.564 - - -1 - 2 - 10 - - HPX Thr40Ala T40A not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 4 - - HR Thr1022Ala T1022A benign Low clinical importance, Uncertain benign recessive Array rs7014851 1043 10758 0.0969511 8 0 9 2 2 0 Y - - 2 Y 0 - 0 - 0 - Y Y - - - - - 1 - Alopecia Universalis 0 0 14 1212 - 2 N 8 0 0 Probably benign. One study implicated it in causing alopecia universalis, but a later report noted the variant has an allele frequency inconsistent with the rarity of that disease. HR Ser911Arg S911R not reviewed Insufficiently evaluated not reviewed unknown Array rs11990451 647 10758 0.0601413 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.127 - - 3 - 1 - 1 - - HR Ala576Val A576V not reviewed Insufficiently evaluated not reviewed unknown Array 49 10702 0.00457858 2 0 1 0 0 - - - - - - - - - - - - Y - - - 0.012 - - 2 - 1 - 7 - - HR Gln528Arg Q528R not reviewed Insufficiently evaluated not reviewed unknown Array rs74596676 832 10756 0.0773522 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.293 - - 0 - 0 N - - HR Leu526Pro L526P not reviewed Insufficiently evaluated not reviewed unknown Array rs56140348 2255 10756 0.20965 22 0 28 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 - 4 - - HR Cys397Tyr C397Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73549523 761 10758 0.0707381 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.928 - - 6 Y 2 - 7 - - HR Gly337Asp G337D not reviewed Insufficiently evaluated not reviewed unknown Array rs12675375 3018 10756 0.280588 23 0 25 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 - 3 - - HR Pro319Leu P319L not reviewed Insufficiently evaluated not reviewed unknown Array 636 10752 0.0591518 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.958 - - 7 Y 2 - 8 - - HR Gly202Ser G202S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 - - 2 - 3 - 4 - - HR Pro69Ser P69S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 3 - 3 - 10 - - HR Pro63Arg P63R not reviewed Insufficiently evaluated not reviewed unknown Array rs73549525 362 10756 0.0336556 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.841 - - 5 Y 2 - 8 - - HRASLS5 Ala248Val A248V not reviewed Insufficiently evaluated not reviewed unknown Array rs35375575 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRASLS5 Ala258Val A258V not reviewed Insufficiently evaluated not reviewed unknown Array rs35375575 3 128 0.0234375 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - HRASLS5 Gln204Arg Q204R not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRASLS5 Gln214Arg Q214R not reviewed Insufficiently evaluated not reviewed unknown Array rs35735923 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - HRASLS5 Ala83Pro A83P not reviewed Insufficiently evaluated not reviewed unknown Array rs940611 2265 10758 0.210541 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HRASLS5 Ala93Pro A93P not reviewed Insufficiently evaluated not reviewed unknown Array rs940611 28 128 0.21875 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HRASLS5 Ser31Gly S31G not reviewed Insufficiently evaluated not reviewed unknown Array rs10897424 10564 10740 0.983613 40 0 76 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HRC Glu603Lys E603K not reviewed Insufficiently evaluated not reviewed unknown Array rs61732829 344 10758 0.0319762 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - HRC Ser96Ala S96A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745297 4105 10758 0.381577 39 0 47 0 0 - - - - - - - - - - - - - - - - 0.195 - - -1 - 0 N - - HRC Ser43Asn S43N not reviewed Insufficiently evaluated not reviewed unknown Array rs3745298 5295 10758 0.492192 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRC Pro24Leu P24L not reviewed Insufficiently evaluated not reviewed unknown Array rs61585939 407 10758 0.0378323 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - HRC Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732827 332 10754 0.0308722 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - HRCT1 Arg63Trp R63W not reviewed Insufficiently evaluated not reviewed unknown Array 1873 10754 0.174168 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HRCT1 Val79Ile V79I not reviewed Insufficiently evaluated not reviewed unknown Array 2213 10756 0.205746 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HRCT1 His104Pro H104P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRG Ile180Thr I180T not reviewed Insufficiently evaluated not reviewed unknown Array rs10770 1665 10758 0.154769 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.59 - - 3 - 0 N - - HRG Pro204Ser P204S not reviewed Insufficiently evaluated not reviewed unknown Array rs9898 4617 10758 0.429169 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HRG His340Arg H340R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228243 1669 10758 0.15514 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.815 - - 1 - 0 N - - HRG Arg448Cys R448C not reviewed Insufficiently evaluated not reviewed unknown Array rs1042445 2521 10758 0.234337 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 1 N - - HRG Asn493Ile N493I not reviewed Insufficiently evaluated not reviewed unknown Array rs1042464 5925 10758 0.550753 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HRH1 Gly270Glu G270E not reviewed Insufficiently evaluated not reviewed unknown Array rs7651620 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - HRH1 Arg326Gln R326Q not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - HRH1 Asp349His D349H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.079 - - 3 - 0 N - - HRH4 Val88Gly V88G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.418 - - 8 Y 1 N - - HRH4 Ala138Val A138V not reviewed Insufficiently evaluated not reviewed unknown Array rs11665084 793 10758 0.0737126 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.625 - - 2 - 0 N - - HRH4 His118Arg H118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRH4 His206Arg H206R not reviewed Insufficiently evaluated not reviewed unknown Array rs11662595 830 10758 0.0771519 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 0 N - - HRH4 Ser196Cys S196C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HRH4 Ser284Cys S284C not reviewed Insufficiently evaluated not reviewed unknown Array rs58154316 429 10758 0.0398773 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - HRK Pro12Ser P12S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 2 - 7 - - HRNR His2819Arg H2819R not reviewed Insufficiently evaluated not reviewed unknown Array rs61314345 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Gln2781His Q2781H not reviewed Insufficiently evaluated not reviewed unknown Array rs41266112 7926 10758 0.736754 39 0 62 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HRNR Leu2688Ser L2688S not reviewed Insufficiently evaluated not reviewed unknown Array rs12751022 1853 9422 0.196667 26 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HRNR Arg2655His R2655H not reviewed Insufficiently evaluated not reviewed unknown Array 1524 2300 0.662609 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HRNR His2628Arg H2628R not reviewed Insufficiently evaluated not reviewed unknown Array 233 3916 0.0594995 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HRNR Ser2558Phe S2558F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR Gly2539Ser G2539S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Arg2527Gln R2527Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 24 0.125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR Gly2524Ser G2524S not reviewed Insufficiently evaluated not reviewed unknown Array rs61814939 6 38 0.157895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HRNR Ser2506Thr S2506T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HRNR Ala2504Ser A2504S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Arg2447Cys R2447C not reviewed Insufficiently evaluated not reviewed unknown Array 3624 8254 0.43906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HRNR Ser2435Gly S2435G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Arg2382Gln R2382Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 3968 0.00982863 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Ser2192Leu S2192L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Ser2184Asn S2184N not reviewed Insufficiently evaluated not reviewed unknown Array 2866 10616 0.26997 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR His2181Gln H2181Q not reviewed Insufficiently evaluated not reviewed unknown Array 6023 7170 0.840028 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HRNR Arg2167His R2167H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10704 0.00233557 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Gly2163Arg G2163R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10704 0.000747384 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Gly2150Arg G2150R not reviewed Insufficiently evaluated not reviewed unknown Array 330 10700 0.0308411 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Pro2099Ser P2099S not reviewed Insufficiently evaluated not reviewed unknown Array 3043 8652 0.351711 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HRNR Gly2069Ser G2069S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Thr2015Ala T2015A not reviewed Insufficiently evaluated not reviewed unknown Array 228 10530 0.0216524 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Gln1999Leu Q1999L not reviewed Insufficiently evaluated not reviewed unknown Array rs61814940 3708 8592 0.431564 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HRNR Arg1977Cys R1977C not reviewed Insufficiently evaluated not reviewed unknown Array 1804 10710 0.168441 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HRNR Glu1898Lys E1898K not reviewed Insufficiently evaluated not reviewed unknown Array 377 10698 0.0352402 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Ser1881Phe S1881F not reviewed Insufficiently evaluated not reviewed unknown Array 1419 10690 0.132741 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HRNR Leu1722Ser L1722S not reviewed Insufficiently evaluated not reviewed unknown Array 31 5716 0.00542337 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Arg1507Cys R1507C not reviewed Insufficiently evaluated not reviewed unknown Array 608 3694 0.164591 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HRNR His1352Gln H1352Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 1250 0.0112 9 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Arg1351Gln R1351Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 30 0.8 9 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR His1218Arg H1218R not reviewed Insufficiently evaluated not reviewed unknown Array 175 966 0.181159 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HRNR Glu1054Lys E1054K not reviewed Insufficiently evaluated not reviewed unknown Array 1184 10752 0.110119 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR Ser967Pro S967P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HRNR Ser878Ala S878A not reviewed Insufficiently evaluated not reviewed unknown Array rs74127894 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Ser803Arg S803R not reviewed Insufficiently evaluated not reviewed unknown Array rs34188717 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HRNR Ser799Thr S799T not reviewed Insufficiently evaluated not reviewed unknown Array rs6662450 7804 10758 0.725414 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HRNR Ser721Gly S721G not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Arg664Gln R664Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7520249 8047 10758 0.748002 52 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR Gly637Ser G637S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Gln593His Q593H not reviewed Insufficiently evaluated not reviewed unknown Array rs74127895 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Glu588Lys E588K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Gln519Pro Q519P not reviewed Insufficiently evaluated not reviewed unknown Array rs12145941 635 10758 0.0590258 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HRNR Tyr517Cys Y517C not reviewed Insufficiently evaluated not reviewed unknown Array rs41266134 1185 10758 0.110151 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HRNR Gly492Arg G492R not reviewed Insufficiently evaluated not reviewed unknown Array rs6587647 8047 10758 0.748002 43 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HRNR Glu473Gly E473G not reviewed Insufficiently evaluated not reviewed unknown Array rs6587648 10216 10758 0.949619 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HRNR Ser431Phe S431F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR Gly427Asp G427D not reviewed Insufficiently evaluated not reviewed unknown Array rs6666097 5164 10758 0.480015 26 0 36 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HRNR Gln376Arg Q376R not reviewed Insufficiently evaluated not reviewed unknown Array rs6587649 10216 10758 0.949619 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR Gly315Ser G315S not reviewed Insufficiently evaluated not reviewed unknown Array rs41266136 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR His273Gln H273Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7545406 5178 10758 0.481316 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HRNR Gly167Asp G167D not reviewed Insufficiently evaluated not reviewed unknown Array rs12741518 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HRNR Trp132Gly W132G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - HRNR Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array rs57277761 187 10758 0.0173824 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.233 - - 7 Y 1 N - - HRNR Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array rs11204937 7806 10758 0.7256 48 0 73 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - HS1BP3 Ala388Thr A388T not reviewed Insufficiently evaluated not reviewed unknown Array rs3732149 1973 10758 0.183398 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - HS1BP3 Pro348Arg P348R not reviewed Insufficiently evaluated not reviewed unknown Array rs35579164 350 10758 0.0325339 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.916 - - 5 Y 2 N - - HS1BP3 Val260Met V260M not reviewed Insufficiently evaluated not reviewed unknown Array rs2305458 5287 10758 0.491448 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HS1BP3 Arg106Trp R106W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - HS3ST2 Gly62Ser G62S not reviewed Insufficiently evaluated not reviewed unknown Array 70 9722 0.00720016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HS3ST2 Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - HS3ST3A1 Arg190Gly R190G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - HS3ST3A1 Asp189His D189H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - HS3ST3B1 Ile196Val I196V not reviewed Insufficiently evaluated not reviewed unknown Array rs62056073 209 10754 0.0194346 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.049 - - -4 - 0 N - - HS3ST4 Gln136Arg Q136R not reviewed Insufficiently evaluated not reviewed unknown Array 5550 5614 0.9886 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HS3ST6 Leu285Val L285V not reviewed Insufficiently evaluated not reviewed unknown Array rs337285 5850 10416 0.561636 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HS3ST6 Arg268Cys R268C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HS3ST6 Val229Ile V229I not reviewed Insufficiently evaluated not reviewed unknown Array 266 10748 0.0247488 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HS3ST6 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array rs1742399 3163 10732 0.294726 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HS3ST6 Ala132Val A132V not reviewed Insufficiently evaluated not reviewed unknown Array rs8055325 3815 10738 0.35528 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HS6ST1 Arg249Ser R249S not reviewed Insufficiently evaluated not reviewed unknown Array 2967 9954 0.298071 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 1 N - - HS6ST1 Asp240Asn D240N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - HS6ST1 Val114Gly V114G not reviewed Insufficiently evaluated not reviewed unknown Array 1658 7350 0.225578 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 8 Y 0 N - - HS6ST1 Asp87Glu D87E not reviewed Insufficiently evaluated not reviewed unknown Array 3350 9282 0.360914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 1 N - - HS6ST2 Asn137Ile N137I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HS6ST2 Thr127Ser T127S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HS6ST3 Gly44Arg G44R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSD11B2 Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array rs13306425 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 5 - - HSD17B1 His214Asn H214N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - 0 - 1 - 2 - - HSD17B1 Gly313Ser G313S not reviewed Insufficiently evaluated not reviewed unknown Array rs605059 5557 9302 0.597398 37 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HSD17B11 Gln283Arg Q283R not reviewed Insufficiently evaluated not reviewed unknown Array rs9991501 10493 10756 0.975549 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HSD17B12 Ser280Leu S280L not reviewed Insufficiently evaluated not reviewed unknown Array rs11555762 3734 10758 0.347091 32 0 37 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HSD17B13 Pro224Gln P224Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HSD17B13 Pro260Gln P260Q not reviewed Insufficiently evaluated not reviewed unknown Array 173 10756 0.016084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HSD17B13 Pro224Ser P224S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSD17B13 Pro260Ser P260S not reviewed Insufficiently evaluated not reviewed unknown Array rs62305723 524 10756 0.048717 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSD17B14 Arg130Trp R130W not reviewed Insufficiently evaluated not reviewed unknown Array rs35299026 388 10758 0.0360662 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HSD17B14 Asn31Asp N31D not reviewed Insufficiently evaluated not reviewed unknown Array rs8110220 3762 10754 0.349823 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HSD17B14 Gly16Trp G16W not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - HSD17B3 Gly289Ser G289S not reviewed Insufficiently evaluated not reviewed unknown Array rs2066479 757 10758 0.0703662 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 10 - - HSD17B3 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - HSD17B3 Val31Ile V31I not reviewed Insufficiently evaluated not reviewed unknown Array rs2066480 88 10758 0.00817996 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - HSD17B4 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array rs25640 3894 10752 0.362165 28 0 35 0 0 - - - - - - - - - - - - Y - - - 0.547 Y - 1 - 2 - 1 - - HSD17B4 Lys140Asn K140N not reviewed Insufficiently evaluated not reviewed unknown Array rs28943589 237 10756 0.0220342 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 1 - 1 N - - HSD17B4 Trp511Arg W511R not reviewed Insufficiently evaluated not reviewed unknown Array rs11539471 1653 10754 0.15371 20 0 23 0 0 - - - - - - - - - - - - Y - - - 0.984 Y - 7 Y 3 - 3 - - HSD17B4 Lys557Met K557M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.879 Y - 4 Y 3 N - - HSD17B4 Ile559Val I559V not reviewed Insufficiently evaluated not reviewed unknown Array rs11205 4350 10756 0.404425 32 0 40 0 0 - - - - - - - - - - - - Y - - - 0.111 Y - -4 - 1 N - - HSD17B4 Arg562Leu R562L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - HSD17B4 Met728Val M728V not reviewed Insufficiently evaluated not reviewed unknown Array rs28943594 360 10756 0.0334697 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 0 - 1 N - - HSD17B7 Lys321Glu K321E not reviewed Insufficiently evaluated not reviewed unknown Array rs2684875 484 10668 0.0453693 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 1 - 6 - - HSD3B1 Arg71Ile R71I not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - HSD3B1 Ile79Val I79V not reviewed Insufficiently evaluated not reviewed unknown Array rs6201 1169 10758 0.108663 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HSD3B1 Phe286Leu F286L not reviewed Insufficiently evaluated not reviewed unknown Array rs6205 1444 10758 0.134226 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HSD3B1 Thr367Asn T367N not reviewed Insufficiently evaluated not reviewed unknown Array rs1047303 8068 10752 0.750372 54 0 92 0 0 - - - - - - - - - - - - - - - - 0.11 - - 1 - 0 N - - HSD3B2 Leu236Ser L236S not reviewed Insufficiently evaluated not reviewed unknown Array rs35887327 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 2 - 9 - - HSD3B2 Ile270Thr I270T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - HSD3B7 Thr250Ala T250A not reviewed Insufficiently evaluated not reviewed unknown Array rs9938550 5549 10754 0.515994 39 0 64 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HSD3B7 Ala286Thr A286T not reviewed Insufficiently evaluated not reviewed unknown Array 97 10710 0.00905696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HSD3B7 Leu347Pro L347P not reviewed Insufficiently evaluated not reviewed unknown Array rs34212827 1153 10758 0.107176 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 1 N - - HSDL1 Ser272Cys S272C not reviewed Insufficiently evaluated not reviewed unknown Array rs4378600 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSDL1 Ser327Cys S327C not reviewed Insufficiently evaluated not reviewed unknown Array rs4378600 2893 10758 0.268916 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HSF1 Pro365Thr P365T not reviewed Insufficiently evaluated not reviewed unknown Array 267 10588 0.0252172 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - HSF5 Ser473Asn S473N not reviewed Insufficiently evaluated not reviewed unknown Array rs3803752 1640 10758 0.152445 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - HSF5 Thr446Arg T446R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - HSF5 Asn329Thr N329T not reviewed Insufficiently evaluated not reviewed unknown Array rs1017089 10754 10758 0.999628 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HSFX1 Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - HSP90AA1 Glu555Asp E555D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HSP90AA1 Glu677Asp E677D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HSP90AA1 Glu192Asp E192D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HSP90AA1 Glu314Asp E314D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HSP90AA1 Met71Leu M71L not reviewed Insufficiently evaluated not reviewed unknown Array rs8005905 8780 10758 0.816137 52 0 91 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HSP90AB1 Asn351Thr N351T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - HSP90AB1 Cys564Phe C564F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - HSP90AB1 Thr637Met T637M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - HSPA12B Val23Leu V23L not reviewed Insufficiently evaluated not reviewed unknown Array rs34414870 150 10756 0.0139457 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - HSPA12B Ala505Ser A505S not reviewed Insufficiently evaluated not reviewed unknown Array rs13433190 875 10000 0.0875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HSPA1A Glu110Asp E110D not reviewed Insufficiently evaluated not reviewed unknown Array rs562047 234 2040 0.114706 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HSPA1B Glu110Asp E110D not reviewed Insufficiently evaluated not reviewed unknown Array rs17856061 76 1878 0.0404686 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 1 - 1 - - HSPA1L Glu602Lys E602K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2075800 2552 10758 0.237219 24 0 26 1 1 - - - - - - - - - - - - - - - Y 0.001 - - 0 - 1 N - - HSPA1L Glu558Ala E558A not reviewed Insufficiently evaluated not reviewed unknown Array rs2227955 511 10758 0.0474995 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - HSPA1L Thr493Met T493M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2227956 9387 10758 0.87256 53 0 96 1 1 - - - - - - - - - - - - - - - Y 0.001 - - 2 - 1 N - - Protection from hypersensitivity to carbamazepine. HSPA1L Pro41Leu P41L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - HSPA4 Cys13Ser C13S not reviewed Insufficiently evaluated not reviewed unknown Array 146 10732 0.0136042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSPA4L Leu211Ser L211S not reviewed Insufficiently evaluated not reviewed unknown Array rs1380154 7725 10758 0.71807 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HSPA5 Lys601Glu K601E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - HSPA5 Glu600Asp E600D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - HSPA6 Leu198Phe L198F not reviewed Insufficiently evaluated not reviewed unknown Array rs63749092 981 10758 0.091188 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.946 - - 0 - 1 N - - HSPA6 Asp562Glu D562E not reviewed Insufficiently evaluated not reviewed unknown Array rs753856 888 10754 0.0825739 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.15 - - -2 - 0 N - - HSPA8 Ala320Asp A320D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.117 - - 5 Y 0 N - - HSPB2 His10Pro H10P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - HSPB3 Gly67Ser G67S not reviewed Insufficiently evaluated not reviewed unknown Array rs35258119 71 10758 0.00659974 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSPB8 Glu179Gln E179Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.221 Y Y -2 - 3 N - - HSPB9 Gln2Pro Q2P not reviewed Insufficiently evaluated not reviewed unknown Array rs1122326 3786 10758 0.351924 32 0 46 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 1 N - - HSPB9 Phe8Ser F8S not reviewed Insufficiently evaluated not reviewed unknown Array rs73311647 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - HSPB9 Lys100Arg K100R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - HSPBAP1 Leu243Val L243V not reviewed Insufficiently evaluated not reviewed unknown Array rs61756481 634 10758 0.0589329 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.916 - - 0 - 1 N - - HSPBAP1 Ser64Ala S64A not reviewed Insufficiently evaluated not reviewed unknown Array rs16833517 536 10758 0.0498234 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - HSPBP1 Arg43Gly R43G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 2 N - - HSPD1 Arg268His R268H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.192 Y - 1 - 1 N - - HSPG2 Val4332Ile V4332I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732880 575 10758 0.0534486 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - HSPG2 Ser4331Asn S4331N not reviewed Insufficiently evaluated not reviewed unknown Array rs3736360 1582 10758 0.147053 17 0 17 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - HSPG2 Arg3719Gln R3719Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 Val3640Ile V3640I not reviewed Insufficiently evaluated not reviewed unknown Array rs17459097 408 10758 0.0379253 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HSPG2 Arg3632Gln R3632Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229493 1209 10758 0.112381 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - HSPG2 Leu3349Val L3349V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10750 0.00697674 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 His3256Tyr H3256Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2291827 1346 10758 0.125116 16 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - HSPG2 Ala3240Val A3240V not reviewed Insufficiently evaluated not reviewed unknown Array rs62642505 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - HSPG2 Ala3168Thr A3168T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228349 1135 10740 0.10568 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - HSPG2 Arg3082Trp R3082W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - HSPG2 Ser2995Gly S2995G not reviewed Insufficiently evaluated not reviewed unknown Array rs2229491 1239 10758 0.11517 10 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - HSPG2 Leu2980His L2980H not reviewed Insufficiently evaluated not reviewed unknown Array rs2229489 437 10758 0.0406209 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HSPG2 Gly2225Ser G2225S not reviewed Insufficiently evaluated not reviewed unknown Array rs35669711 449 10756 0.0417441 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - HSPG2 Val1967Ile V1967I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229475 442 10754 0.041101 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HSPG2 Ala1503Val A1503V not reviewed Insufficiently evaluated not reviewed unknown Array rs897471 7442 10718 0.694346 46 0 79 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - HSPG2 Arg1090Gln R1090Q not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 Asn765Ser N765S not reviewed Insufficiently evaluated not reviewed unknown Array rs989994 10033 10758 0.932608 53 0 96 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - HSPG2 Met638Val M638V not reviewed Insufficiently evaluated not reviewed unknown Array rs1874792 10452 10734 0.973728 53 0 101 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - HSPG2 Thr361Asn T361N not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HTATIP2 Ser197Arg S197R not reviewed Insufficiently evaluated not reviewed unknown Array rs3824886 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HTATIP2 Ser231Arg S231R not reviewed Insufficiently evaluated not reviewed unknown Array rs3824886 9071 10758 0.843186 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HTATIP2 His199Pro H199P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HTATIP2 His233Pro H233P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HTATSF1 Gly478Ala G478A not reviewed Insufficiently evaluated not reviewed unknown Array rs2071913 26 8720 0.00298165 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - 1 - 1 N - - HTN1 Arg25Ile R25I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - HTN1 Ser39Pro S39P not reviewed Insufficiently evaluated not reviewed unknown Array rs61744465 267 10752 0.0248326 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - HTN3 Lys30Arg K30R not reviewed Insufficiently evaluated not reviewed unknown Array 69 10616 0.00649962 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HTN3 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1136511 547 10758 0.0508459 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.54 - - 0 - 0 N - - HTN3 Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array rs58376281 268 10758 0.0249117 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - HTN3 Tyr47Stop Y47X not reviewed Insufficiently evaluated not reviewed unknown Array rs17147990 548 10758 0.0509388 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - HTR1A Gly273Asp G273D not reviewed Insufficiently evaluated not reviewed unknown Array rs1800042 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 4 Y 2 - 8 - - HTR1E Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array rs3828741 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 3 - 3 - - HTR2A His452Tyr H452Y pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6314 1175 10758 0.109221 14 0 16 0 0 - - - - - - - - - - - - - - - Y 0.489 - - -1 - 1 N - - HTR2C Cys23Ser C23S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6318 2041 8761 0.232964 23 0 38 2 2 1 Y - - - - - - - - - - - Y - Y 0.004 - - 3 - 2 N - - HTR3A Phe255Leu F255L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.876 - - 0 - 2 N - - HTR3B Tyr129Ser Y129S not reviewed Insufficiently evaluated not reviewed unknown Array rs1176744 3841 10756 0.357103 32 0 47 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HTR3B Val183Ile V183I not reviewed Insufficiently evaluated not reviewed unknown Array rs17116138 502 10758 0.0466629 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - HTR3B Gly425Arg G425R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - HTR3C Gly25Ser G25S not reviewed Insufficiently evaluated not reviewed unknown Array rs60179621 584 10758 0.0542852 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - HTR3C Asn163Lys N163K not reviewed Insufficiently evaluated not reviewed unknown Array rs6766410 4558 10758 0.423685 35 0 49 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - HTR3C Pro340Leu P340L not reviewed Insufficiently evaluated not reviewed unknown Array rs73052482 54 10758 0.00501952 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HTR3C Gly403Val G403V not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - HTR3C Gly405Ala G405A not reviewed Insufficiently evaluated not reviewed unknown Array rs6807362 5499 10758 0.511154 38 0 58 0 0 - - - - - - - - - - - - - - - - 0.127 - - 1 - 0 N - - HTR3D Pro105Ala P105A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HTR3D Pro31Ala P31A not reviewed Insufficiently evaluated not reviewed unknown Array rs73183412 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HTR3D Gly110Ala G110A not reviewed Insufficiently evaluated not reviewed unknown Array rs6443930 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR3D Gly36Ala G36A not reviewed Insufficiently evaluated not reviewed unknown Array rs6443930 73 128 0.570312 44 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HTR3D Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array rs1000952 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR3D Arg52His R52H not reviewed Insufficiently evaluated not reviewed unknown Array rs1000952 103 128 0.804688 51 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HTR3D Leu197Val L197V not reviewed Insufficiently evaluated not reviewed unknown Array 8 126 0.0634921 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.109 - - 0 - 0 N - - HTR3D Leu322Val L322V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - HTR3D Arg260His R260H not reviewed Insufficiently evaluated not reviewed unknown Array rs6789754 95 128 0.742188 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HTR3D Arg385His R385H not reviewed Insufficiently evaluated not reviewed unknown Array rs6789754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR3E Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array rs7627615 7360 10758 0.684142 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HTR3E Ala445Thr A445T not reviewed Insufficiently evaluated not reviewed unknown Array rs13324468 449 10758 0.0417364 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR4 Leu368Phe L368F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HTR4 Arg321Cys R321C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HTR4 Arg335Cys R335C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HTR4 Ile263Asn I263N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HTR4 Ile277Asn I277N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HTRA3 Val269Met V269M not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.513 - - 0 - 1 N - - HTRA4 Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - HTRA4 Ile317Asn I317N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - 7 Y 1 - 1 - - HTT Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.104 Y Y -4 - 2 N - - HTT Ile1091Met I1091M not reviewed Insufficiently evaluated not reviewed unknown Array rs1143646 352 9978 0.0352776 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -1 - 2 N - - HTT Thr1173Ala T1173A not reviewed Insufficiently evaluated not reviewed unknown Array 82 9718 0.00843795 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - HTT Asn1385His N1385H not reviewed Insufficiently evaluated not reviewed unknown Array rs3025837 403 10236 0.0393708 5 0 5 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - HTT Thr1720Asn T1720N not reviewed Insufficiently evaluated not reviewed unknown Array rs363125 1972 9608 0.205246 22 0 26 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HTT Tyr2309His Y2309H not reviewed Insufficiently evaluated not reviewed unknown Array rs362331 4808 10312 0.466253 42 0 54 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - HTT Val2786Ile V2786I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs362272 2254 10454 0.215611 15 0 18 1 1 - - - - - - - - - - - - Y - - Y - Y Y -4 - 3 N - - HUNK Arg370His R370H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HUNK Arg591Cys R591C not reviewed Insufficiently evaluated not reviewed unknown Array rs10775648 1890 10758 0.175683 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.898 - - 8 Y 1 N - - HUS1 Leu252Ile L252I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HUS1 Gln147Lys Q147K not reviewed Insufficiently evaluated not reviewed unknown Array rs2307254 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 6 - - HUS1B Asp268Tyr D268Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1211554 8119 10758 0.754694 52 0 79 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HUS1B Gln201Arg Q201R not reviewed Insufficiently evaluated not reviewed unknown Array rs17136239 901 10758 0.0837516 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HUS1B His130Gln H130Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1766848 701 10702 0.0655018 7 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 1 N - - HUWE1 Asn483Ser N483S not reviewed Insufficiently evaluated not reviewed unknown Array rs41307640 164 8761 0.0187193 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - HYAL1 Arg108His R108H not reviewed Insufficiently evaluated not reviewed unknown Array rs56962018 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - HYAL2 Ile418Leu I418L not reviewed Insufficiently evaluated not reviewed unknown Array rs35455589 692 10758 0.0643242 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HYAL2 Ser18Ala S18A not reviewed Insufficiently evaluated not reviewed unknown Array rs709210 7795 10742 0.725656 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HYAL3 His113Tyr H113Y not reviewed Insufficiently evaluated not reviewed unknown Array rs13100173 4006 10758 0.372374 32 0 41 0 0 - - - - - - - - - - - - - - - - 0.837 - - -1 - 0 N - - HYAL4 Ala346Ser A346S not reviewed Insufficiently evaluated not reviewed unknown Array rs6949082 1768 10758 0.164343 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HYDIN Arg4952Trp R4952W not reviewed Insufficiently evaluated not reviewed unknown Array 21 9930 0.0021148 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN Ala4873Thr A4873T not reviewed Insufficiently evaluated not reviewed unknown Array rs72792885 6 10056 0.000596658 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HYDIN Arg4868Gln R4868Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2795652 64 128 0.5 52 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HYDIN Thr4741Ile T4741I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HYDIN Arg4653Cys R4653C not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HYDIN Thr4637Met T4637M not reviewed Insufficiently evaluated not reviewed unknown Array rs783893 46 114 0.403509 36 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HYDIN Asn4605Lys N4605K not reviewed Insufficiently evaluated not reviewed unknown Array rs783898 25 104 0.240385 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HYDIN Met4551Leu M4551L not reviewed Insufficiently evaluated not reviewed unknown Array rs1770442 64 128 0.5 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HYDIN Gly4519Ser G4519S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - HYDIN Lys4411Glu K4411E not reviewed Insufficiently evaluated not reviewed unknown Array rs1774480 64 128 0.5 52 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HYDIN Ser4362Cys S4362C not reviewed Insufficiently evaluated not reviewed unknown Array rs1770434 64 128 0.5 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HYDIN His4269Tyr H4269Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1891343 5 110 0.0454545 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Glu4159Gln E4159Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1798314 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HYDIN Lys4087Arg K4087R not reviewed Insufficiently evaluated not reviewed unknown Array rs1774416 26 126 0.206349 20 0 19 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HYDIN Ala4025Thr A4025T not reviewed Insufficiently evaluated not reviewed unknown Array rs11075798 22 116 0.189655 21 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HYDIN Thr4004Ala T4004A not reviewed Insufficiently evaluated not reviewed unknown Array rs1539302 51 118 0.432203 44 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HYDIN Val3898Met V3898M not reviewed Insufficiently evaluated not reviewed unknown Array rs1626593 25 126 0.198413 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HYDIN Met3868Arg M3868R not reviewed Insufficiently evaluated not reviewed unknown Array rs7192347 38 124 0.306452 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HYDIN Val3839Leu V3839L not reviewed Insufficiently evaluated not reviewed unknown Array rs1798325 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HYDIN Arg3831His R3831H not reviewed Insufficiently evaluated not reviewed unknown Array rs7198721 9 122 0.0737705 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HYDIN Asp3825Gly D3825G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HYDIN Arg3810His R3810H not reviewed Insufficiently evaluated not reviewed unknown Array rs13338821 325 9476 0.0342972 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HYDIN Thr3765Ile T3765I not reviewed Insufficiently evaluated not reviewed unknown Array rs74024486 1 9496 0.000105307 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HYDIN Arg3747Cys R3747C not reviewed Insufficiently evaluated not reviewed unknown Array rs12102644 8 118 0.0677966 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HYDIN Val3741Ile V3741I not reviewed Insufficiently evaluated not reviewed unknown Array rs1798413 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HYDIN Ala3738Thr A3738T not reviewed Insufficiently evaluated not reviewed unknown Array rs1774504 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HYDIN Arg3724Trp R3724W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN Pro3536Ala P3536A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYDIN Arg3480Trp R3480W not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN Leu3315Pro L3315P not reviewed Insufficiently evaluated not reviewed unknown Array rs1774331 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HYDIN Ala3290Pro A3290P not reviewed Insufficiently evaluated not reviewed unknown Array rs1798440 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HYDIN Tyr3268Asp Y3268D not reviewed Insufficiently evaluated not reviewed unknown Array rs7197263 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - HYDIN Thr3115Arg T3115R not reviewed Insufficiently evaluated not reviewed unknown Array rs1774423 36 114 0.315789 31 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HYDIN Glu2993Gly E2993G not reviewed Insufficiently evaluated not reviewed unknown Array rs12102425 652 10116 0.0644524 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HYDIN Glu2936Lys E2936K not reviewed Insufficiently evaluated not reviewed unknown Array rs8047935 5 126 0.0396825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - HYDIN Pro2931Leu P2931L not reviewed Insufficiently evaluated not reviewed unknown Array rs11075812 11 120 0.0916667 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HYDIN Ile2853Thr I2853T not reviewed Insufficiently evaluated not reviewed unknown Array rs58098614 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HYDIN Ile2693Ser I2693S not reviewed Insufficiently evaluated not reviewed unknown Array rs1774449 64 128 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HYDIN Ile2687Lys I2687K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HYDIN Lys2588Arg K2588R not reviewed Insufficiently evaluated not reviewed unknown Array rs1774395 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HYDIN Asp2569Asn D2569N not reviewed Insufficiently evaluated not reviewed unknown Array rs8044001 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HYDIN Gly2557Glu G2557E not reviewed Insufficiently evaluated not reviewed unknown Array rs8044142 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HYDIN Lys2529Glu K2529E not reviewed Insufficiently evaluated not reviewed unknown Array rs1798528 14 104 0.134615 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HYDIN Leu2501Ser L2501S not reviewed Insufficiently evaluated not reviewed unknown Array rs1798529 63 126 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HYDIN Pro2454Gln P2454Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1798531 9285 9342 0.993899 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - HYDIN Asn2444Ile N2444I not reviewed Insufficiently evaluated not reviewed unknown Array rs1798532 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - HYDIN Glu2305Gly E2305G not reviewed Insufficiently evaluated not reviewed unknown Array rs2502726 5864 9786 0.599223 34 0 34 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 1 N - - HYDIN Arg2297Gly R2297G not reviewed Insufficiently evaluated not reviewed unknown Array rs1774360 63 126 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 1 N - - HYDIN Gln2275Arg Q2275R not reviewed Insufficiently evaluated not reviewed unknown Array rs1815707 14 112 0.125 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 1 N - - HYDIN Met2272Val M2272V not reviewed Insufficiently evaluated not reviewed unknown Array 197 10048 0.0196059 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - HYDIN Gln2241Arg Q2241R not reviewed Insufficiently evaluated not reviewed unknown Array rs2258307 63 126 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HYDIN Gly2111Val G2111V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10044 0.000199123 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.128 - - 8 Y 0 N - - HYDIN Val2098Met V2098M not reviewed Insufficiently evaluated not reviewed unknown Array rs1798337 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HYDIN Arg2086Cys R2086C not reviewed Insufficiently evaluated not reviewed unknown Array rs1774541 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - HYDIN Ser2046Thr S2046T not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.82 - - -2 - 1 N - - HYDIN Lys1991Asn K1991N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - HYDIN Lys1878Met K1878M not reviewed Insufficiently evaluated not reviewed unknown Array rs74024608 4 122 0.0327869 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.955 - - 4 Y 2 N - - HYDIN Glu1767Lys E1767K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - HYDIN Val1717Met V1717M not reviewed Insufficiently evaluated not reviewed unknown Array rs783762 14 124 0.112903 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 0 N - - HYDIN Ile1533Val I1533V not reviewed Insufficiently evaluated not reviewed unknown Array rs1774303 60 120 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - HYDIN Asp1529Tyr D1529Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN Pro1491His P1491H not reviewed Insufficiently evaluated not reviewed unknown Array 3518 9534 0.368995 31 0 31 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - HYDIN Val1228Leu V1228L not reviewed Insufficiently evaluated not reviewed unknown Array rs1774513 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HYDIN Lys1125Met K1125M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 1 N - - HYDIN Ile1077Val I1077V not reviewed Insufficiently evaluated not reviewed unknown Array rs6416709 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.082 - - -4 - 0 N - - HYDIN Asn724Asp N724D not reviewed Insufficiently evaluated not reviewed unknown Array rs3817211 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 1 N - - HYDIN Thr690Ala T690A not reviewed Insufficiently evaluated not reviewed unknown Array rs10744982 63 126 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 1 N - - HYDIN Val684Ala V684A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - HYDIN Leu673Phe L673F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - HYDIN Gly489Asp G489D not reviewed Insufficiently evaluated not reviewed unknown Array rs62040318 43 86 0.5 35 0 35 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 1 N - - HYDIN Arg451Pro R451P not reviewed Insufficiently evaluated not reviewed unknown Array rs7200485 5 126 0.0396825 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - HYDIN Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - HYDIN Thr2Lys T2K not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - HYI Cys175Ser C175S not reviewed Insufficiently evaluated not reviewed unknown Array 305 10758 0.028351 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HYLS1 Cys31Arg C31R not reviewed Insufficiently evaluated not reviewed unknown Array rs667782 2778 10758 0.258226 25 0 30 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 8 Y 2 N - - HYLS1 Val98Leu V98L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.956 Y - 0 - 3 N - - HYOU1 Arg291Leu R291L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.342 - - 6 Y 1 N - - HYPK Ser105Pro S105P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IARS Lys1182Glu K1182E not reviewed Insufficiently evaluated not reviewed unknown Array rs556155 1434 10758 0.133296 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IARS Thr684Met T684M not reviewed Insufficiently evaluated not reviewed unknown Array rs2070053 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IARS Ser376Gly S376G not reviewed Insufficiently evaluated not reviewed unknown Array rs73653050 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IBSP Gly195Glu G195E not reviewed Insufficiently evaluated not reviewed unknown Array rs1054627 2513 10758 0.233594 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.976 - - 6 Y 1 N - - IBSP Asp213Gly D213G not reviewed Insufficiently evaluated not reviewed unknown Array rs13144371 8746 10758 0.812976 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IBSP Arg219Gly R219G not reviewed Insufficiently evaluated not reviewed unknown Array rs17013181 2882 10758 0.267894 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - IBSP Thr256Ala T256A not reviewed Insufficiently evaluated not reviewed unknown Array rs17013182 159 10758 0.0147797 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - IBSP Ala268Val A268V not reviewed Insufficiently evaluated not reviewed unknown Array rs1054628 2059 10758 0.191392 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - IBSP Glu270Asp E270D not reviewed Insufficiently evaluated not reviewed unknown Array rs1054629 2501 10758 0.232478 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.405 - - -2 - 0 N - - IBTK Ala1185Val A1185V not reviewed Insufficiently evaluated not reviewed unknown Array rs9449444 2390 10722 0.222906 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IBTK Pro1063Leu P1063L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - IBTK Ala613Ser A613S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745123 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - IBTK Ala557Glu A557E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - IBTK Ala557Pro A557P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - ICA1 Ala470Asp A470D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - ICA1 Gly401Ser G401S not reviewed Insufficiently evaluated not reviewed unknown Array rs35459366 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ICAM1 Lys56Met K56M not reviewed Insufficiently evaluated not reviewed unknown Array rs5491 803 10758 0.0746421 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ICAM1 Gly241Arg G241R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799969 812 10758 0.0754787 4 0 4 0 0 - - - - - - - - - - - - - - Y Y 0.948 - - 6 Y 3 N - - ICAM1 Pro352Leu P352L not reviewed Insufficiently evaluated not reviewed unknown Array rs1801714 238 10748 0.0221437 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - 7 Y 2 - 9 - - ICAM1 Arg397Gln R397Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5497 101 10758 0.00938836 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.825 - - 0 - 1 N - - ICAM1 Lys469Glu K469E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5498 3755 10758 0.349043 29 0 36 0 0 - - - - - - - - - - - - - - Y Y - - - 0 - 2 N - - ICAM1 Arg478Trp R478W not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - 7 Y 3 - 9 - - ICAM2 Arg181Lys R181K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - ICAM3 Ser525Thr S525T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230399 1334 10758 0.124001 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ICAM3 Asp143Gly D143G not reviewed Insufficiently evaluated not reviewed unknown Array rs2304237 2136 10738 0.19892 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ICAM3 Arg115Gly R115G not reviewed Insufficiently evaluated not reviewed unknown Array rs7258015 2231 10758 0.207381 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ICAM3 Ile63Val I63V not reviewed Insufficiently evaluated not reviewed unknown Array rs17697947 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ICAM4 Arg182Pro R182P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 3 - 3 - - ICAM4 Val208Leu V208L not reviewed Insufficiently evaluated not reviewed unknown Array rs36023325 55 10758 0.00511247 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ICAM5 Val301Ile V301I not reviewed Insufficiently evaluated not reviewed unknown Array rs1056538 3113 10754 0.289474 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ICAM5 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228615 3111 10756 0.289234 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ICK Ala615Thr A615T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ICK Val320Ile V320I not reviewed Insufficiently evaluated not reviewed unknown Array rs33936662 794 10758 0.0738055 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.06 - - -4 - 0 N - - ICOS Arg14Cys R14C not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.023 Y Y 8 Y 2 N - - ICOSLG Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array rs11558819 3001 10372 0.289337 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.444 - - -4 - 0 N - - ICOSLG Arg79His R79H not reviewed Insufficiently evaluated not reviewed unknown Array rs61747082 190 10526 0.0180505 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ICT1 Arg8Pro R8P not reviewed Insufficiently evaluated not reviewed unknown Array rs3744206 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 6 - - ICT1 Arg8Leu R8L not reviewed Insufficiently evaluated not reviewed unknown Array rs3744206 388 10478 0.03703 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - ICT1 Thr122Met T122M not reviewed Insufficiently evaluated not reviewed unknown Array rs34496172 879 10758 0.0817066 16 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ID3 Ser111Ala S111A not reviewed Insufficiently evaluated not reviewed unknown Array rs11542317 479 10758 0.044525 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ID3 Thr105Ala T105A not reviewed Insufficiently evaluated not reviewed unknown Array rs11574 8871 10758 0.824596 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IDH1 Tyr183Cys Y183C not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 0 1 1 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - This variant was found segregating with early onset osteoarthritis in one Caucasian family, but was also found with a 0.02 frequency in subjects without significant enrichment for disease. This disease often has complex inheritance. IDH1 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array rs34218846 654 10758 0.060792 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.057 - - -4 - 0 N - - IDH1 Val71Ile V71I not reviewed Insufficiently evaluated not reviewed unknown Array rs73070954 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - IDH3G Arg101Cys R101C not reviewed Insufficiently evaluated not reviewed unknown Array 260 8755 0.0296973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.356 - - 8 Y 1 N - - IDI1 His145Asn H145N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IDI1 Gly12Ala G12A not reviewed Insufficiently evaluated not reviewed unknown Array rs4880760 165 9346 0.0176546 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - IDI2 Trp144Stop W144X not reviewed Insufficiently evaluated not reviewed unknown Array rs1044261 712 10758 0.0661833 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - IDO2 Ile140Val I140V not reviewed Insufficiently evaluated not reviewed unknown Array rs4736794 726 9702 0.0748299 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IDO2 Arg248Trp R248W not reviewed Insufficiently evaluated not reviewed unknown Array rs10109853 4423 9708 0.455604 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IDO2 Ser252Thr S252T not reviewed Insufficiently evaluated not reviewed unknown Array 215 9672 0.0222291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IDO2 Tyr359Stop Y359X not reviewed Insufficiently evaluated not reviewed unknown Array rs4503083 1786 10306 0.173297 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - IDUA His33Gln H33Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10794537 3048 3370 0.904451 16 0 27 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -1 - 3 - 1 - - IDUA Ala79Thr A79T not reviewed Insufficiently evaluated not reviewed unknown Array rs58037052 108 10712 0.0100821 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.098 Y Y 1 - 3 - 3 - - IDUA Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3755955 1507 10754 0.140134 11 0 11 0 0 3 Y - - - - - - - - - - Y - - - 0.023 Y Y 0 - 3 - 10 - - IDUA Leu237Phe L237F not reviewed Insufficiently evaluated not reviewed unknown Array 50 10690 0.00467727 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y 0 - 4 N - - IDUA Val322Glu V322E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10284 0.00165305 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 5 Y 4 N - - IDUA Ala344Gly A344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y 1 - 2 N - - IDUA Ala361Thr A361T not reviewed Insufficiently evaluated not reviewed unknown Array rs6831280 1837 10732 0.17117 8 0 8 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - IDUA His378Arg H378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 1 - 4 N - - IDUA Val454Ile V454I not reviewed Insufficiently evaluated not reviewed unknown Array 431 3924 0.109837 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -4 - 3 - 9 - - IDUA Arg488Gln R488Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 0 - 3 - 2 - - IER2 Ala133Val A133V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042164 1266 10598 0.119456 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IER3 Ala127Pro A127P not reviewed Insufficiently evaluated not reviewed unknown Array rs3094124 10068 10756 0.936036 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IER5 Arg92His R92H not reviewed Insufficiently evaluated not reviewed unknown Array 2785 9688 0.287469 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IER5 Arg194Gly R194G not reviewed Insufficiently evaluated not reviewed unknown Array rs1416829 280 1906 0.146905 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IER5 Gln202Arg Q202R not reviewed Insufficiently evaluated not reviewed unknown Array rs1361365 719 734 0.979564 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IER5L Pro105Ser P105S not reviewed Insufficiently evaluated not reviewed unknown Array 615 3228 0.19052 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - IFI16 Ser179Thr S179T not reviewed Insufficiently evaluated not reviewed unknown Array rs866484 7202 10758 0.669455 49 0 70 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IFI16 Arg409Ser R409S not reviewed Insufficiently evaluated not reviewed unknown Array rs1057027 7347 10758 0.682934 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IFI16 Tyr413Asn Y413N not reviewed Insufficiently evaluated not reviewed unknown Array rs1057028 7348 10758 0.683027 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IFI16 Thr420Ala T420A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - IFI16 Ser512Phe S512F not reviewed Insufficiently evaluated not reviewed unknown Array rs62621173 383 10758 0.0356014 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IFI16 Val615Gly V615G not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - IFI16 Thr723Ser T723S not reviewed Insufficiently evaluated not reviewed unknown Array rs6940 1810 10758 0.168247 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.576 - - -2 - 0 N - - IFI27L1 Gly35Ser G35S not reviewed Insufficiently evaluated not reviewed unknown Array rs57677258 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 3 - 2 - - IFI30 Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11554159 2508 10278 0.244016 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFI35 Gln16Glu Q16E not reviewed Insufficiently evaluated not reviewed unknown Array rs12948870 455 10706 0.0424995 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - IFI44 Trp9Arg W9R not reviewed Insufficiently evaluated not reviewed unknown Array rs2070123 1094 10758 0.101692 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 1 N - - IFI44L His73Arg H73R not reviewed Insufficiently evaluated not reviewed unknown Array rs273259 3732 10756 0.346969 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IFI44L Asp81Val D81V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IFI44L Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array 743 10758 0.0690649 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -4 - 1 N - - IFI44L Ile235Thr I235T not reviewed Insufficiently evaluated not reviewed unknown Array rs987495 2293 10758 0.213144 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IFI44L Arg296Cys R296C not reviewed Insufficiently evaluated not reviewed unknown Array 581 10758 0.0540063 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - IFI44L Met390Ile M390I not reviewed Insufficiently evaluated not reviewed unknown Array 118 10754 0.0109727 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.446 - - -1 - 2 - 2 - - IFIH1 Ala946Thr A946T not reviewed Insufficiently evaluated not reviewed unknown Array rs1990760 4934 10758 0.458635 29 0 38 0 0 - - - - - - - - - - - - - - Y - 0.001 - - 1 - 1 N - - IFIH1 His843Arg H843R not reviewed Insufficiently evaluated not reviewed unknown Array rs3747517 7442 10758 0.691764 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IFIH1 His460Arg H460R not reviewed Insufficiently evaluated not reviewed unknown Array rs10930046 1641 10756 0.152566 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IFIT1 Glu334Gly E334G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - 6 Y 1 N - - IFIT1 Arg386Gln R386Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - IFIT1L Ala102Ser A102S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFIT1L Gly180Arg G180R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFIT2 Glu79Ala E79A not reviewed Insufficiently evaluated not reviewed unknown Array rs17468739 1363 10758 0.126696 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - IFIT2 Lys121Arg K121R not reviewed Insufficiently evaluated not reviewed unknown Array rs2070845 2556 10516 0.243058 23 0 24 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - IFIT2 Val298Ala V298A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729485 102 9662 0.0105568 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 2 - 0 N - - IFIT2 Asp352Glu D352E not reviewed Insufficiently evaluated not reviewed unknown Array rs1727 7997 9834 0.813199 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IFIT3 Asp394Gly D394G not reviewed Insufficiently evaluated not reviewed unknown Array rs34407818 516 10758 0.0479643 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.11 - - 4 Y 0 N - - IFIT5 Leu25Val L25V not reviewed Insufficiently evaluated not reviewed unknown Array rs59633641 307 10756 0.0285422 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - IFIT5 Asn99Asp N99D not reviewed Insufficiently evaluated not reviewed unknown Array rs59827270 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - IFITM1 Pro13Ala P13A not reviewed Insufficiently evaluated not reviewed unknown Array rs9667990 124 124 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IFITM2 Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array rs1058900 6969 10040 0.694124 32 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IFITM2 Met41Thr M41T not reviewed Insufficiently evaluated not reviewed unknown Array rs14408 4451 9930 0.448238 14 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IFITM2 Val53Met V53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10004 9.996e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFITM2 Ile121Val I121V not reviewed Insufficiently evaluated not reviewed unknown Array rs1059091 4045 10212 0.396103 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IFITM5 Gly27Ala G27A not reviewed Insufficiently evaluated not reviewed unknown Array rs57285449 4161 10662 0.390264 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 1 N - - IFITM5 Arg7His R7H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - IFLTD1 Thr303Ser T303S not reviewed Insufficiently evaluated not reviewed unknown Array rs1479500 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFLTD1 Thr347Ser T347S not reviewed Insufficiently evaluated not reviewed unknown Array rs1479500 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFLTD1 Thr366Ser T366S not reviewed Insufficiently evaluated not reviewed unknown Array rs1479500 96 126 0.761905 47 0 78 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IFLTD1 Thr387Ser T387S not reviewed Insufficiently evaluated not reviewed unknown Array rs1479500 7954 10758 0.739357 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IFLTD1 Val153Gly V153G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - IFLTD1 Val174Gly V174G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IFLTD1 Val90Gly V90G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IFNA1 Val10Ala V10A not reviewed Insufficiently evaluated not reviewed unknown Array rs1758567 439 10758 0.0408068 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 8 - - IFNA1 Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array 244 9956 0.0245078 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - IFNA10 Gly33Arg G33R not reviewed Insufficiently evaluated not reviewed unknown Array rs10113875 2255 10748 0.209806 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - IFNA10 Ser31Thr S31T not reviewed Insufficiently evaluated not reviewed unknown Array rs10113876 2079 10742 0.193539 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.186 - - -2 - 0 N - - IFNA10 Cys20Stop C20X not reviewed Insufficiently evaluated not reviewed unknown Array rs10119910 2081 10748 0.193617 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - IFNA13 Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFNA17 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array rs12552812 2323 10752 0.216053 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IFNA2 His57Arg H57R not reviewed Insufficiently evaluated not reviewed unknown Array rs73420190 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFNA21 Lys179Glu K179E not reviewed Insufficiently evaluated not reviewed unknown Array rs3750478 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFNA21 Asn113Tyr N113Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45579138 11 10758 0.00102249 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IFNA21 Gln102Lys Q102K not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - -2 - 1 - 2 - - IFNA4 Ala74Thr A74T not reviewed Insufficiently evaluated not reviewed unknown Array rs1062571 6109 10758 0.567856 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IFNA6 Asp95Gly D95G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 0 N - - IFNA7 Ser31Thr S31T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - -2 - 0 N - - IFNA7 Cys20Stop C20X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IFNAR1 Gln127His Q127H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.39 - - -1 - 1 N - - IFNAR1 Val168Leu V168L not reviewed Insufficiently evaluated not reviewed unknown Array rs2257167 1549 10758 0.143986 14 0 19 0 0 - - - - - - - - - - - - - - - - 0.898 - - 0 - 1 N - - IFNAR1 Ile499Thr I499T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFNAR2 Phe8Ser F8S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229207 822 10758 0.0764083 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IFNAR2 Phe10Val F10V not reviewed Insufficiently evaluated not reviewed unknown Array rs1051393 2899 10758 0.269474 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IFNAR2 Ala285Thr A285T not reviewed Insufficiently evaluated not reviewed unknown Array rs1131668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFNAR2 Tyr322Stop Y322X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IFNB1 Asp60Glu D60E not reviewed Insufficiently evaluated not reviewed unknown Array rs34130181 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - IFNE Gln71Stop Q71X not reviewed Insufficiently evaluated not reviewed unknown Array rs2039381 264 10758 0.0245399 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IFNE Gln46His Q46H not reviewed Insufficiently evaluated not reviewed unknown Array rs1125488 652 10758 0.0606061 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.054 - - -1 - 0 N - - IFNGR2 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.131 Y - 1 - 1 N - - IFNGR2 Thr58Arg T58R not reviewed Insufficiently evaluated not reviewed unknown Array rs4986958 579 10758 0.0538204 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.548 Y - 3 - 2 - 7 - - IFNGR2 Gln64Arg Q64R not reviewed Insufficiently evaluated not reviewed unknown Array rs9808753 1821 10758 0.169269 24 0 29 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 2 - 8 - - IFNK Ile97Asn I97N not reviewed Insufficiently evaluated not reviewed unknown Array rs34933275 251 10758 0.0233315 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IFNK Lys133Glu K133E not reviewed Insufficiently evaluated not reviewed unknown Array rs700785 9940 10756 0.924135 56 0 100 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFNW1 Arg95Ser R95S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230055 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 3 - - IFRD2 Arg502Gln R502Q not reviewed Insufficiently evaluated not reviewed unknown Array 234 9960 0.023494 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - IFT122 Ile206Thr I206T not reviewed Insufficiently evaluated not reviewed unknown Array rs59912693 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT122 Ile257Thr I257T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT122 Arg576Gln R576Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73204229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Arg628Gln R628Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73204229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Arg687Gln R687Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73204229 843 10752 0.078404 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFT122 Arg738Gln R738Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73204229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Phe595Leu F595L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Phe647Leu F647L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Phe706Leu F706L not reviewed Insufficiently evaluated not reviewed unknown Array 462 10758 0.0429448 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Phe757Leu F757L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Asp684Asn D684N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFT122 Asp736Asn D736N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFT122 Asp795Asn D795N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFT122 Asp846Asn D846N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFT122 Cys1118Trp C1118W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IFT122 Cys1169Trp C1169W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IFT122 Cys1228Trp C1228W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IFT122 Cys1279Trp C1279W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IFT140 Ile1248Thr I1248T not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.364 - - 3 - 1 N - - IFT140 Ala1070Val A1070V not reviewed Insufficiently evaluated not reviewed unknown Array rs2235638 393 10758 0.036531 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - IFT140 Arg621Gln R621Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11648609 403 10758 0.0374605 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IFT140 Ser561Asn S561N not reviewed Insufficiently evaluated not reviewed unknown Array rs8050974 335 10758 0.0311396 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT140 Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array rs8060532 336 10758 0.0312326 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 4 - - IFT140 Val398Ile V398I not reviewed Insufficiently evaluated not reviewed unknown Array rs34762152 979 10758 0.091002 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IFT172 Ser1502Cys S1502C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - IFT172 Ala1416Gly A1416G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - IFT172 Val1090Met V1090M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - IFT172 Ala931Ser A931S not reviewed Insufficiently evaluated not reviewed unknown Array rs72850632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - IFT172 Thr562Ser T562S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743977 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFT52 Ile295Thr I295T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT52 Glu345Lys E345K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.81 - - 0 - 1 N - - IFT57 Pro424Leu P424L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 7 Y 0 N - - IFT57 Gln333Arg Q333R not reviewed Insufficiently evaluated not reviewed unknown Array rs72931627 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - IFT74 Arg51His R51H not reviewed Insufficiently evaluated not reviewed unknown Array rs73436007 2 9682 0.000206568 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - IFT74 Ile55Met I55M not reviewed Insufficiently evaluated not reviewed unknown Array rs10812505 279 9706 0.0287451 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFT74 Lys85Arg K85R not reviewed Insufficiently evaluated not reviewed unknown Array rs11555693 566 9614 0.0588725 15 0 21 0 0 - - - - - - - - - - - - - - - - 0.042 - - -3 - 0 N - - IFT74 Phe224Leu F224L not reviewed Insufficiently evaluated not reviewed unknown Array rs17694549 698 9574 0.0729058 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - IFT74 Thr365Ile T365I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT74 Thr597Ile T597I not reviewed Insufficiently evaluated not reviewed unknown Array rs3429 1033 9634 0.107224 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - IFT80 Thr586Ser T586S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFT81 Asp134Gly D134G not reviewed Insufficiently evaluated not reviewed unknown Array rs34684319 165 10756 0.0153403 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - IFT88 Met374Ile M374I not reviewed Insufficiently evaluated not reviewed unknown Array rs2442455 1929 10750 0.179442 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IFT88 Met383Ile M383I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFT88 Ser446Asn S446N not reviewed Insufficiently evaluated not reviewed unknown Array rs9509307 7084 10758 0.658487 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFT88 Ser455Asn S455N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT88 Arg726His R726H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFT88 Arg735His R735H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGBP1 Arg20Lys R20K not reviewed Insufficiently evaluated not reviewed unknown Array rs6625580 453 8761 0.0517064 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - IGBP1 Ile203Thr I203T not reviewed Insufficiently evaluated not reviewed unknown Array 42 8761 0.00479397 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGDCC3 Val751Leu V751L not reviewed Insufficiently evaluated not reviewed unknown Array rs12907128 5654 10754 0.525758 33 0 46 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - IGDCC4 Cys1125Tyr C1125Y not reviewed Insufficiently evaluated not reviewed unknown Array rs33918653 1892 10758 0.175869 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - IGDCC4 Met454Thr M454T not reviewed Insufficiently evaluated not reviewed unknown Array 183 10550 0.017346 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - IGDCC4 Asn301Ser N301S not reviewed Insufficiently evaluated not reviewed unknown Array rs12442757 2163 10708 0.201999 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IGDCC4 Ala52Pro A52P not reviewed Insufficiently evaluated not reviewed unknown Array rs34355056 1817 10756 0.168929 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IGF1R Arg511Gln R511Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.521 - - 0 - 2 - 4 - - IGF1R Asn857Ser N857S not reviewed Insufficiently evaluated not reviewed unknown Array rs45611935 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 1 - 3 - - IGF2AS Ser106Ile S106I not reviewed Insufficiently evaluated not reviewed unknown Array rs17883406 40 9988 0.0040048 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - IGF2AS Phe125Val F125V not reviewed Insufficiently evaluated not reviewed unknown Array rs1003483 3708 9822 0.37752 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IGF2AS Arg140Cys R140C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 3 - 1 - - IGF2AS Thr150Ala T150A not reviewed Insufficiently evaluated not reviewed unknown Array rs1003484 6886 9980 0.68998 46 0 68 0 0 - - - - - - - - - - - - - - - - 0.264 - - 1 - 0 N - - IGF2BP2 Arg168Gly R168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGF2BP2 Gln167His Q167H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGF2BP2 Gln167Arg Q167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGF2BP3 Ile503Thr I503T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - IGF2R Gly231Asp G231D not reviewed Insufficiently evaluated not reviewed unknown Array rs8191753 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 3 - 2 - - IGF2R Thr232Ala T232A not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - IGF2R Leu252Val L252V not reviewed Insufficiently evaluated not reviewed unknown Array rs8191754 1453 10756 0.135087 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.787 - - 0 - 0 N - - IGF2R Ile430Leu I430L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - -2 - 2 N - - IGF2R Thr1107Met T1107M not reviewed Insufficiently evaluated not reviewed unknown Array rs8191842 178 10758 0.0165458 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.834 - - 2 - 1 N - - IGF2R Arg1619Gly R1619G not reviewed Insufficiently evaluated not reviewed unknown Array rs629849 9804 10758 0.911322 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IGF2R Ile1908Met I1908M not reviewed Insufficiently evaluated not reviewed unknown Array rs8191908 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 1 - 2 - - IGF2R Asn2020Ser N2020S not reviewed Insufficiently evaluated not reviewed unknown Array rs1805075 355 10758 0.0329987 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - IGF2R Ala2308Thr A2308T not reviewed Insufficiently evaluated not reviewed unknown Array rs73598446 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - IGFALS Arg548Trp R548W not reviewed Insufficiently evaluated not reviewed unknown Array rs9282731 13 124 0.104839 10 0 12 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - IGFALS Arg586Trp R586W not reviewed Insufficiently evaluated not reviewed unknown Array 865 10646 0.0812512 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IGFALS Leu135Phe L135F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGFALS Leu97Phe L97F not reviewed Insufficiently evaluated not reviewed unknown Array rs35947557 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - IGFALS His27Tyr H27Y not reviewed Insufficiently evaluated not reviewed unknown Array 230 4984 0.0461477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGFBP1 Ala112Thr A112T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 1 - 0 N - - IGFBP1 Pro113Ser P113S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGFBP1 Ile253Met I253M not reviewed Insufficiently evaluated not reviewed unknown Array rs4619 4209 10758 0.391244 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - IGFBP2 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 7 - - IGFBP2 Pro15Leu P15L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - IGFBP3 Met288Arg M288R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 4 Y 2 N - - IGFBP3 Met294Arg M294R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGFBP3 His158Pro H158P not reviewed Insufficiently evaluated not reviewed unknown Array rs9282734 202 10758 0.0187767 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - IGFBP3 His164Pro H164P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IGFBP3 Ala32Gly A32G not reviewed Insufficiently evaluated not reviewed unknown Array rs2854746 417 1606 0.259651 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IGFBP5 Arg138Trp R138W not reviewed Insufficiently evaluated not reviewed unknown Array rs11575194 336 10758 0.0312326 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - 7 Y 2 N - - IGFBP7 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array 551 5404 0.101962 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IGFL3 Thr66Ser T66S not reviewed Insufficiently evaluated not reviewed unknown Array rs10406448 296 10724 0.0276016 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.923 - - -2 - 3 - 3 - - IGFL4 Arg60Gln R60Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17271272 1290 10754 0.119955 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - IGFL4 Leu25Pro L25P not reviewed Insufficiently evaluated not reviewed unknown Array rs10412490 571 10758 0.0530768 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - IGFN1 His712Tyr H712Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3738270 5808 10758 0.539877 41 0 55 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IGHMBP2 Leu201Ser L201S not reviewed Insufficiently evaluated not reviewed unknown Array rs560096 8355 10758 0.776631 50 0 82 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 2 - 1 - - IGHMBP2 Ile275Val I275V not reviewed Insufficiently evaluated not reviewed unknown Array rs10896380 2204 10758 0.204871 15 0 19 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 2 - - IGHMBP2 Val647Ile V647I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - IGHMBP2 Thr671Ala T671A not reviewed Insufficiently evaluated not reviewed unknown Array rs622082 2647 10754 0.246141 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 4 - - IGHMBP2 Arg694Trp R694W not reviewed Insufficiently evaluated not reviewed unknown Array rs2236654 2383 10750 0.221674 20 0 26 0 0 1 Y - - - - - - - - - - Y - - - - Y - 7 Y 2 - 2 - - IGHMBP2 Pro697Leu P697L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - IGHMBP2 Thr879Lys T879K not reviewed Insufficiently evaluated not reviewed unknown Array rs17612126 2244 10758 0.208589 16 0 18 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 5 - - IGLL1 Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array rs8138122 389 10758 0.0361591 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - IGLL1 Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - IGLL1 Gly159Ser G159S not reviewed Insufficiently evaluated not reviewed unknown Array 344 10758 0.0319762 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - IGLL1 Thr148Ile T148I not reviewed Insufficiently evaluated not reviewed unknown Array rs73157031 1042 10758 0.0968582 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - IGLL1 Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - IGLL1 Pro80His P80H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - IGLL3 Ser182Asn S182N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGLL3 Met185Val M185V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGLL3 Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IGSF10 Asp2614Asn D2614N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - IGSF10 His2579Tyr H2579Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7624011 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - IGSF10 Arg2476Trp R2476W not reviewed Insufficiently evaluated not reviewed unknown Array rs3732775 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 6 - - IGSF10 Tyr1875His Y1875H not reviewed Insufficiently evaluated not reviewed unknown Array rs12487205 4 128 0.03125 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - IGSF10 Glu1602Stop E1602X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IGSF10 Ser1199Ala S1199A not reviewed Insufficiently evaluated not reviewed unknown Array rs16863403 9 128 0.0703125 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - IGSF10 Asp795Asn D795N not reviewed Insufficiently evaluated not reviewed unknown Array rs58583961 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 2 N - - IGSF10 Arg722Gln R722Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73010404 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - IGSF10 Pro571Ser P571S not reviewed Insufficiently evaluated not reviewed unknown Array rs17204557 4 128 0.03125 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - IGSF10 Pro461Leu P461L not reviewed Insufficiently evaluated not reviewed unknown Array rs73010405 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IGSF10 Tyr150Asp Y150D not reviewed Insufficiently evaluated not reviewed unknown Array rs7619322 85 126 0.674603 45 0 69 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 1 N - - IGSF10 Thr124Ile T124I not reviewed Insufficiently evaluated not reviewed unknown Array rs35953658 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 5 - - IGSF11 Ser387Asn S387N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF11 Ser388Asn S388N not reviewed Insufficiently evaluated not reviewed unknown Array rs34908332 769 10758 0.0714817 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IGSF11 Glu332Asp E332D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IGSF11 Glu333Asp E333D not reviewed Insufficiently evaluated not reviewed unknown Array rs36052974 2441 10758 0.226901 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - IGSF11 Pro38Thr P38T not reviewed Insufficiently evaluated not reviewed unknown Array rs2903250 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGSF11 Pro39Thr P39T not reviewed Insufficiently evaluated not reviewed unknown Array rs2903250 9026 10758 0.839004 47 0 82 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IGSF2 Gly157Ser G157S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGSF2 Asn225Ser N225S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF2 Met415Val M415V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF2 Ser525Arg S525R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGSF2 Arg833His R833H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGSF2 Leu955Phe L955F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF2 Arg992Trp R992W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF21 Thr379Met T379M not reviewed Insufficiently evaluated not reviewed unknown Array rs12076815 364 10758 0.0338353 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - IGSF22 Arg875Gln R875Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9946 0.000100542 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 2 N - - IGSF22 Arg823Gln R823Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 2 N - - IGSF22 Pro754Thr P754T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - IGSF22 Met559Val M559V not reviewed Insufficiently evaluated not reviewed unknown Array rs7125943 7975 10306 0.773821 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IGSF22 Asp522His D522H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - IGSF22 Ser503Ile S503I not reviewed Insufficiently evaluated not reviewed unknown Array 374 10650 0.0351174 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 2 N - - IGSF22 Arg472Gln R472Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4424652 8148 10746 0.758236 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - IGSF22 Val414Ile V414I not reviewed Insufficiently evaluated not reviewed unknown Array rs10766494 7583 9960 0.761345 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IGSF22 Glu398Lys E398K not reviewed Insufficiently evaluated not reviewed unknown Array rs61886891 1441 10092 0.142786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - IGSF22 Asp248Glu D248E not reviewed Insufficiently evaluated not reviewed unknown Array 176 9728 0.0180921 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - -2 - 2 N - - IGSF22 Leu130Arg L130R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10236 9.7694e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 3 - 4 - - IGSF22 Ala94Pro A94P not reviewed Insufficiently evaluated not reviewed unknown Array rs10832975 3371 10042 0.33569 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IGSF3 Gln1073Arg Q1073R not reviewed Insufficiently evaluated not reviewed unknown Array rs6703791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF3 Gln1093Arg Q1093R not reviewed Insufficiently evaluated not reviewed unknown Array rs6703791 2541 10758 0.236196 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IGSF3 Asp1020Glu D1020E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IGSF3 Asp1040Glu D1040E not reviewed Insufficiently evaluated not reviewed unknown Array rs647711 2449 10758 0.227645 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IGSF3 Val900Met V900M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - IGSF3 Val920Met V920M not reviewed Insufficiently evaluated not reviewed unknown Array rs41301291 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - IGSF3 Gly824Glu G824E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 6 Y 0 N - - IGSF3 Gly844Glu G844E not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGSF3 Asp776His D776H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - IGSF3 Asp796His D796H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGSF3 Arg651Trp R651W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IGSF3 Arg671Trp R671W not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF3 Ser631Ile S631I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.251 - - 5 Y 1 N - - IGSF3 Ser651Ile S651I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10 0.1 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IGSF3 Arg456Cys R456C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - IGSF3 Arg476Cys R476C not reviewed Insufficiently evaluated not reviewed unknown Array rs61786577 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IGSF3 Ile390Thr I390T not reviewed Insufficiently evaluated not reviewed unknown Array rs61786588 23 50 0.46 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.436 - - 3 - 0 N - - IGSF3 Asp256Glu D256E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - IGSF3 Asp254Asn D254N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -1 - 2 N - - IGSF3 Met75Ile M75I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - IGSF3 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - IGSF5 Ala48Thr A48T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 1 - 0 N - - IGSF5 Arg49Thr R49T not reviewed Insufficiently evaluated not reviewed unknown Array rs2205204 6925 10758 0.643707 49 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IGSF5 Arg170Trp R170W not reviewed Insufficiently evaluated not reviewed unknown Array rs8129968 959 10758 0.089143 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 1 N - - IGSF5 Ser198Arg S198R not reviewed Insufficiently evaluated not reviewed unknown Array 494 10758 0.0459193 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - IGSF5 Cys289Arg C289R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 3 - 1 - - IGSF5 Asp350Glu D350E not reviewed Insufficiently evaluated not reviewed unknown Array rs2837225 3925 10758 0.364845 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IGSF6 Arg152Trp R152W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF8 Arg467Gln R467Q not reviewed Insufficiently evaluated not reviewed unknown Array 153 10720 0.0142724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.742 - - 0 - 1 N - - IGSF9 Pro1101Thr P1101T not reviewed Insufficiently evaluated not reviewed unknown Array rs1319080 11 128 0.0859375 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IGSF9 Pro1117Thr P1117T not reviewed Insufficiently evaluated not reviewed unknown Array 460 10758 0.0427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 4 Y 0 N - - IGSF9 Pro898Leu P898L not reviewed Insufficiently evaluated not reviewed unknown Array rs35574000 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF9 Pro914Leu P914L not reviewed Insufficiently evaluated not reviewed unknown Array 230 10666 0.0215638 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - IGSF9 Ile193Met I193M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -1 - 2 N - - IGSF9 Gly34Glu G34E not reviewed Insufficiently evaluated not reviewed unknown Array rs3747617 485 10752 0.0451079 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - IGSF9B Gln1331Arg Q1331R not reviewed Insufficiently evaluated not reviewed unknown Array rs12800905 4162 9600 0.433542 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IK Asn473Ser N473S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IKBKAP Glu1177Gly E1177G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - IKBKAP Pro1158Leu P1158L not reviewed Insufficiently evaluated not reviewed unknown Array rs1538660 2303 10758 0.214073 30 0 34 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - IKBKAP Cys1072Ser C1072S not reviewed Insufficiently evaluated not reviewed unknown Array rs3204145 2310 10758 0.214724 30 0 34 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - IKBKAP Lys952Ile K952I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230798 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - IKBKAP Ile830Met I830M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230794 372 10758 0.0345789 9 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - IKBKAP Ile816Leu I816L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230793 2886 10758 0.268265 30 0 33 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 2 - - IKBKAP Gly765Glu G765E not reviewed Insufficiently evaluated not reviewed unknown Array rs2230792 2765 10748 0.257257 29 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - IKBKAP Glu312Lys E312K not reviewed Insufficiently evaluated not reviewed unknown Array rs1140064 233 10758 0.0216583 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - IKBKAP Leu308Pro L308P not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - IKBKAP Met182Lys M182K not reviewed Insufficiently evaluated not reviewed unknown Array rs10521092 785 10758 0.072969 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - IKBKB Arg526Gln R526Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2272736 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 1 - 5 - - IKBKB Leu594Val L594V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IKBKB Met676Ile M676I not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - IKBKE Ala602Val A602V not reviewed Insufficiently evaluated not reviewed unknown Array rs12059562 913 10758 0.0848671 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IKBKE Asp699Glu D699E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - IKBKE Pro713Leu P713L not reviewed Insufficiently evaluated not reviewed unknown Array rs3748022 1694 10758 0.157464 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.121 - - 7 Y 0 N - - IKIP Gly265Ser G265S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IKIP Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IKZF2 Met201Ile M201I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IKZF2 Met227Ile M227I not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - IKZF2 Asn93Ser N93S not reviewed Insufficiently evaluated not reviewed unknown Array rs16849611 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IKZF3 Gly178Ala G178A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IKZF3 Gly234Ala G234A not reviewed Insufficiently evaluated not reviewed unknown Array 240 10758 0.022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL10 Arg124Gln R124Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.909 - - 0 - 2 N - - IL10RA Leu61Val L61V not reviewed Insufficiently evaluated not reviewed unknown Array rs4252250 155 10758 0.0144079 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 1 - 4 - - IL10RA Ser159Gly S159G not reviewed Insufficiently evaluated not reviewed unknown Array rs3135932 1292 10758 0.120097 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.51 - - 2 - 0 N - - IL10RA Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228055 421 10758 0.0391337 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IL10RA Arg351Gly R351G not reviewed Insufficiently evaluated not reviewed unknown Array rs2229113 7812 10758 0.726157 54 0 85 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IL10RB Lys47Glu K47E not reviewed Insufficiently evaluated not reviewed unknown Array rs2834167 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL11RA Ser43Phe S43F not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - IL11RA Gly231Asp G231D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - IL11RA Arg395Trp R395W not reviewed Insufficiently evaluated not reviewed unknown Array rs11575580 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - IL12B Val298Phe V298F not reviewed Insufficiently evaluated not reviewed unknown Array rs3213119 242 10758 0.0224949 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.84 Y - 3 - 2 N - - IL12RB1 Gly378Arg G378R not reviewed Insufficiently evaluated not reviewed unknown Array rs401502 2713 10124 0.267977 28 0 34 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 2 - 10 - - IL12RB1 Met365Thr M365T not reviewed Insufficiently evaluated not reviewed unknown Array rs375947 2978 10290 0.289407 29 0 36 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 10 - - IL12RB1 Val316Met V316M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.023 Y - 0 - 1 N - - IL12RB1 Gln214Arg Q214R not reviewed Insufficiently evaluated not reviewed unknown Array rs11575934 2698 10758 0.25079 27 0 31 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 10 - - IL12RB1 Arg156His R156H not reviewed Insufficiently evaluated not reviewed unknown Array rs11575926 1340 10758 0.124558 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - 1 - 2 - 10 - - IL12RB2 Gln426His Q426H not reviewed Insufficiently evaluated not reviewed unknown Array rs2307145 651 10758 0.0605131 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 0 N - - IL13 Gln144Arg Q144R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs20541 8727 10758 0.81121 52 0 78 0 0 3 Y - - - - - - - - - - - - Y Y - - - 0 - 2 N - - IL15RA Asn146Thr N146T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL15RA Asn182Thr N182T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228059 6062 10758 0.563488 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IL15RA Ser132Leu S132L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - IL15RA Ser96Leu S96L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL16 Asp43Tyr D43Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL16 Pro434Ser P434S not reviewed Insufficiently evaluated not reviewed unknown Array rs4072111 876 10198 0.0858992 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IL16 Ser205Leu S205L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL16 Ser906Leu S906L not reviewed Insufficiently evaluated not reviewed unknown Array rs17875513 499 10750 0.0464186 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL16 Ser1027Thr S1027T not reviewed Insufficiently evaluated not reviewed unknown Array rs34101586 374 10758 0.0347648 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - IL16 Ser326Thr S326T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 5 - - IL16 Asn1147Lys N1147K not reviewed Insufficiently evaluated not reviewed unknown Array rs11556218 1325 10758 0.123164 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IL16 Asn446Lys N446K not reviewed Insufficiently evaluated not reviewed unknown Array rs11556218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17F His161Arg H161R not reviewed Insufficiently evaluated not reviewed unknown Array rs763780 678 10758 0.0630229 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.457 - - 1 - 1 - 10 - - IL17F Glu126Gly E126G not reviewed Insufficiently evaluated not reviewed unknown Array rs2397084 709 10758 0.0659044 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - IL17RA Ala367Val A367V not reviewed Insufficiently evaluated not reviewed unknown Array rs879577 3283 10756 0.305225 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IL17RA Pro562Gln P562Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12484684 58 10734 0.00540339 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 3 - 3 - - IL17RA Asp583His D583H not reviewed Insufficiently evaluated not reviewed unknown Array rs41432148 29 10736 0.00270119 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.163 - - 3 - 0 N - - IL17RA Ala691Thr A691T not reviewed Insufficiently evaluated not reviewed unknown Array rs41323645 1120 8814 0.127071 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 0 N - - IL17RA Ile797Val I797V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -4 - 2 N - - IL17RB Gln484Stop Q484X not reviewed Insufficiently evaluated not reviewed unknown Array rs1043261 909 10758 0.0844953 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - IL17RC Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array 464 10758 0.0431307 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - IL17RC Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17RC Ser111Leu S111L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL17RC Ser182Leu S182L not reviewed Insufficiently evaluated not reviewed unknown Array rs708567 5552 10752 0.516369 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - IL17RC Gln292Arg Q292R not reviewed Insufficiently evaluated not reviewed unknown Array rs279549 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17RC Gln307Arg Q307R not reviewed Insufficiently evaluated not reviewed unknown Array rs279549 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17RC Gln378Arg Q378R not reviewed Insufficiently evaluated not reviewed unknown Array rs279549 10705 10754 0.995444 31 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IL17RD Gly440Val G440V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL17RD Val301Met V301M not reviewed Insufficiently evaluated not reviewed unknown Array rs17057718 1362 10758 0.126603 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IL17RD Thr255Met T255M not reviewed Insufficiently evaluated not reviewed unknown Array rs6780995 7090 10758 0.659044 42 0 58 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - IL17RD Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 6 Y 1 - 1 - - IL17RE Ala7Val A7V not reviewed Insufficiently evaluated not reviewed unknown Array rs12492494 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 2 - 1 - - IL17RE Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array rs59269999 148 10758 0.0137572 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.879 - - 2 - 2 N - - IL17RE Asp192Asn D192N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - IL17RE Asp308Asn D308N not reviewed Insufficiently evaluated not reviewed unknown Array rs61743385 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - IL17RE Ser301Thr S301T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL17RE Ser417Thr S417T not reviewed Insufficiently evaluated not reviewed unknown Array rs7647642 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL17REL Leu333Pro L333P not reviewed Insufficiently evaluated not reviewed unknown Array rs5771069 5761 10706 0.538109 49 0 69 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IL17REL Gly70Arg G70R not reviewed Insufficiently evaluated not reviewed unknown Array rs9617090 3565 10734 0.332122 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IL18BP Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5743673 271 10310 0.0262852 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL18BP Asn147Ser N147S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10368 0.00260417 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL18R1 Val186Met V186M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - IL18R1 Glu264Stop E264X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IL18RAP Pro72His P72H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - IL19 Phe175Ser F175S not reviewed Insufficiently evaluated not reviewed unknown Array rs2243191 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IL19 Phe213Ser F213S not reviewed Insufficiently evaluated not reviewed unknown Array rs2243191 8558 10742 0.796686 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IL1A Ala114Ser A114S not reviewed Insufficiently evaluated not reviewed unknown Array rs17561 2787 10758 0.259063 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - IL1A Asn102Ser N102S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - IL1F10 Arg23Lys R23K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - IL1F10 Ile44Thr I44T not reviewed Insufficiently evaluated not reviewed unknown Array rs6761276 6283 10758 0.584031 47 0 60 0 0 - - - - - - - - - - - - - - Y - 0.167 - - 3 - 1 N - - IL1F10 Ala51Asp A51D not reviewed Insufficiently evaluated not reviewed unknown Array rs6743376 7354 10758 0.683584 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IL1F5 Asn47Ser N47S not reviewed Insufficiently evaluated not reviewed unknown Array rs28938777 7 10756 0.000650799 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - IL1F5 Val57Ile V57I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - IL1F6 Gln12Arg Q12R not reviewed Insufficiently evaluated not reviewed unknown Array rs895497 105 126 0.833333 50 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IL1F6 Ile63Thr I63T not reviewed Insufficiently evaluated not reviewed unknown Array rs28938798 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.057 - - 3 - 0 N - - IL1F7 Gly31Val G31V not reviewed Insufficiently evaluated not reviewed unknown Array rs3811046 6057 10758 0.563023 24 0 38 0 0 - - - - - - - - - - - - - - - - 0.38 - - 8 Y 0 N - - IL1F7 Thr42Ala T42A not reviewed Insufficiently evaluated not reviewed unknown Array rs3811047 6187 10758 0.575107 35 0 56 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - IL1F7 Pro24Arg P24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IL1F7 Pro29Arg P29R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 5 Y 1 N - - IL1F7 Pro50Arg P50R not reviewed Insufficiently evaluated not reviewed unknown Array rs2708943 1174 10758 0.109128 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - IL1F7 Asn28Ser N28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL1F7 Asn33Ser N33S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL1F7 Asn54Ser N54S not reviewed Insufficiently evaluated not reviewed unknown Array rs2723183 1174 10758 0.109128 12 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IL1F7 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array rs2723187 1174 10758 0.109128 12 0 16 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 1 N - - IL1F7 Pro47Leu P47L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Pro82Leu P82L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Pro87Leu P87L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Trp103Arg W103R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Trp124Arg W124R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Trp138Arg W138R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Trp143Arg W143R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1F7 Trp164Arg W164R not reviewed Insufficiently evaluated not reviewed unknown Array rs2708947 1177 10758 0.109407 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.249 - - 7 Y 0 N - - IL1F7 Asp157Asn D157N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL1F7 Asp178Asn D178N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL1F7 Asp192Asn D192N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL1F7 Asp197Asn D197N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL1F7 Asp218Asn D218N not reviewed Insufficiently evaluated not reviewed unknown Array rs2723192 1174 10758 0.109128 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.598 - - -1 - 0 N - - IL1F9 Gln69Lys Q69K not reviewed Insufficiently evaluated not reviewed unknown Array rs6707930 459 10758 0.0426659 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - IL1R1 Ala124Gly A124G not reviewed Insufficiently evaluated not reviewed unknown Array rs2228139 609 10758 0.056609 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 1 N - - IL1R2 Pro286Ser P286S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - IL1RL1 Ala78Glu A78E not reviewed Insufficiently evaluated not reviewed unknown Array rs1041973 3560 10758 0.330917 36 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IL1RL1 Gly215Arg G215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL1RL1 Ala433Thr A433T not reviewed Insufficiently evaluated not reviewed unknown Array rs4988956 5363 10758 0.498513 44 0 59 0 0 - - - - - - - - - - - - - - - - 0.389 - - 1 - 0 N - - IL1RL1 Gln501Lys Q501K not reviewed Insufficiently evaluated not reviewed unknown Array rs10192036 403 10758 0.0374605 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL1RL1 Gln501Arg Q501R not reviewed Insufficiently evaluated not reviewed unknown Array rs10192036 682 10758 0.0633947 44 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IL1RL1 Thr549Ile T549I not reviewed Insufficiently evaluated not reviewed unknown Array rs10192157 5318 10750 0.494698 44 0 59 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - IL1RL1 Leu551Ser L551S not reviewed Insufficiently evaluated not reviewed unknown Array rs10206753 5299 10742 0.493297 44 0 59 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 1 N - - IL1RL2 Val352Ile V352I not reviewed Insufficiently evaluated not reviewed unknown Array rs33946385 195 10758 0.018126 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 1 - 3 - - IL1RL2 Pro546Gln P546Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72998581 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.625 - - 4 Y 1 N - - IL1RL2 Leu550Pro L550P not reviewed Insufficiently evaluated not reviewed unknown Array rs2302612 3185 10758 0.296059 29 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IL1RN Ser21Stop S21X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - IL20RA Leu382Phe L382F not reviewed Insufficiently evaluated not reviewed unknown Array rs1342642 2692 10758 0.250232 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 0 N - - IL20RA Val259Ile V259I not reviewed Insufficiently evaluated not reviewed unknown Array rs1555498 8948 10758 0.831753 51 0 89 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - IL21R Thr46Met T46M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - IL21R Gly484Ser G484S not reviewed Insufficiently evaluated not reviewed unknown Array rs3093386 363 10758 0.0337423 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - IL22RA1 Arg518Gly R518G not reviewed Insufficiently evaluated not reviewed unknown Array rs3795299 4004 10758 0.372188 39 0 54 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - IL22RA1 Ala209Ser A209S not reviewed Insufficiently evaluated not reviewed unknown Array rs34379702 109 10758 0.010132 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - IL22RA1 Val205Ile V205I not reviewed Insufficiently evaluated not reviewed unknown Array rs16829204 2104 10758 0.195575 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - IL22RA1 Gln183Stop Q183X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IL22RA1 Ser130Pro S130P not reviewed Insufficiently evaluated not reviewed unknown Array rs34900099 192 10758 0.0178472 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - IL23R Gln3His Q3H not reviewed Insufficiently evaluated not reviewed unknown Array rs1884444 5598 10758 0.520357 38 0 54 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - IL23R Gly149Arg G149R not reviewed Insufficiently evaluated not reviewed unknown Array rs76418789 35 10758 0.00325339 1 0 1 1 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - possibly associated with protection against inflammatory bowel disease IL23R Leu310Pro L310P not reviewed Insufficiently evaluated not reviewed unknown Array rs7530511 9010 10758 0.837516 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IL23R Arg381Gln R381Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11209026 513 10756 0.0476943 8 0 9 3 3 - - - - - - - - - - - - - Y Y Y 0.997 - - 0 - 4 N - - confers strong protection against Crohn's disease IL23R Pro443Ser P443S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - IL24 Leu10Pro L10P not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.26 - - 7 Y 1 N - - IL24 Tyr124His Y124H not reviewed Insufficiently evaluated not reviewed unknown Array rs1150258 4413 10758 0.410206 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - IL24 Val131Leu V131L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IL27 Leu119Pro L119P not reviewed Insufficiently evaluated not reviewed unknown Array rs181206 2516 10756 0.233916 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IL27 Ser59Ala S59A not reviewed Insufficiently evaluated not reviewed unknown Array rs17855750 624 10758 0.0580033 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.738 - - -1 - 1 - 4 - - IL27RA Pro181Leu P181L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - IL27RA Leu188Pro L188P not reviewed Insufficiently evaluated not reviewed unknown Array rs35026308 1456 10758 0.135341 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.761 - - 7 Y 0 N - - IL27RA Val326Leu V326L not reviewed Insufficiently evaluated not reviewed unknown Array rs61355201 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - IL27RA Thr490Ile T490I not reviewed Insufficiently evaluated not reviewed unknown Array 288 10758 0.0267708 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - IL28A Thr112Ala T112A not reviewed Insufficiently evaluated not reviewed unknown Array rs8103362 2682 10758 0.249303 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IL28B Arg180Cys R180C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL28B Thr108Ala T108A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL28B Lys70Arg K70R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8103142 34 86 0.395349 22 0 32 1 1 - - - - - - - - - - - - - - - Y - - - -3 - 1 N - - IL28B Met6Thr M6T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL28RA Cys446Trp C446W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL28RA Cys475Trp C475W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - IL28RA His330Tyr H330Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL28RA His359Tyr H359Y not reviewed Insufficiently evaluated not reviewed unknown Array rs72648587 803 10758 0.0746421 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 1 N - - IL28RA Val309Ile V309I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IL28RA Val338Ile V338I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -4 - 1 N - - IL28RA Asp292Glu D292E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL28RA Asp321Glu D321E not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.565 - - -2 - 1 N - - IL29 Asn188Asp N188D not reviewed Insufficiently evaluated not reviewed unknown Array rs30461 3043 10758 0.282859 28 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IL2RB Asp391Glu D391E not reviewed Insufficiently evaluated not reviewed unknown Array rs228942 1664 10758 0.154676 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IL2RB Ser83Phe S83F not reviewed Insufficiently evaluated not reviewed unknown Array rs2228143 278 10758 0.0258412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 1 - 5 - - IL2RB Leu10Val L10V not reviewed Insufficiently evaluated not reviewed unknown Array rs57770674 35 10254 0.0034133 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - IL3 Pro27Ser P27S not reviewed Insufficiently evaluated not reviewed unknown Array rs40401 3513 10758 0.326548 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IL31RA Asn103Asp N103D not reviewed Insufficiently evaluated not reviewed unknown Array rs59086632 702 10756 0.0652659 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IL31RA Asp187Asn D187N not reviewed Insufficiently evaluated not reviewed unknown Array rs13184107 262 10758 0.024354 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL31RA Ser529Asn S529N not reviewed Insufficiently evaluated not reviewed unknown Array rs161704 3319 10758 0.308515 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IL32 Asp115Gly D115G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - IL32 Asp152Gly D152G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 4 Y 3 - 1 - - IL32 Asp163Gly D163G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - IL32 Asp172Gly D172G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - IL34 Glu123Gln E123Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8046424 6797 10758 0.631809 35 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IL34 Ser195Thr S195T not reviewed Insufficiently evaluated not reviewed unknown Array rs7206509 378 10758 0.0351366 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL34 Tyr213Stop Y213X not reviewed Insufficiently evaluated not reviewed unknown Array rs4985556 894 10758 0.0831009 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - IL3RA Val323Leu V323L not reviewed Insufficiently evaluated not reviewed unknown Array rs17883366 1530 10746 0.142379 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IL4 Arg109Gln R109Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - IL4 Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - IL4R Ser13Arg S13R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - IL4R Ile75Val I75V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805010 5054 10758 0.46979 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IL4R Glu400Ala E400A not reviewed Insufficiently evaluated not reviewed unknown Array rs1805011 2705 10758 0.251441 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.578 - - 3 - 0 N - - IL4R Cys431Arg C431R not reviewed Insufficiently evaluated not reviewed unknown Array rs1805012 1061 10758 0.0986243 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - IL4R Ser436Leu S436L not reviewed Insufficiently evaluated not reviewed unknown Array rs1805013 423 10758 0.0393196 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 1 - 9 - - IL4R Ser503Pro S503P not reviewed Insufficiently evaluated not reviewed unknown Array rs1805015 2495 10758 0.23192 20 0 23 0 0 - - - - - - - - - - - - - Y - - 0.743 - - 3 - 2 N - - IL4R Gln576Arg Q576R not reviewed Insufficiently evaluated not reviewed unknown Array rs1801275 3916 10758 0.364008 30 0 48 0 0 3 Y - - - - - - - - - - - Y - - - - - 0 - 2 N - - IL4R Val579Ile V579I not reviewed Insufficiently evaluated not reviewed unknown Array rs3024677 323 10758 0.0300242 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - IL4R Ser752Ala S752A not reviewed Insufficiently evaluated not reviewed unknown Array rs1805016 1525 10758 0.141755 16 0 22 0 0 - - - - - - - - - - - - - - - - 0.328 - - -1 - 0 N - - IL5RA Val262Ala V262A not reviewed Insufficiently evaluated not reviewed unknown Array rs17879690 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 1 - 2 - - IL5RA Ile129Val I129V not reviewed Insufficiently evaluated not reviewed unknown Array rs2290610 4027 10758 0.374326 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IL6 Pro32Ser P32S not reviewed Insufficiently evaluated not reviewed unknown Array rs2069830 283 10758 0.026306 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - IL6R Pro65Leu P65L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - IL6R Arg232His R232H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - IL6R Asp358Ala D358A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2228145 3401 10758 0.316137 42 0 55 1 1 - - - - - - - - - - - - - Y - Y 0.911 - - 5 Y 3 N - - IL6R Val385Ile V385I not reviewed Insufficiently evaluated not reviewed unknown Array rs28730736 628 10758 0.0583752 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IL6ST Ile454Thr I454T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228046 1058 10758 0.0983454 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IL6ST Leu397Val L397V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228043 2009 10758 0.186745 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IL6ST Gly148Arg G148R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228044 2408 10756 0.223875 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IL7R Ile66Thr I66T not reviewed Insufficiently evaluated not reviewed unknown Array rs1494558 7516 10758 0.698643 45 0 68 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 4 - - IL7R Val138Ile V138I not reviewed Insufficiently evaluated not reviewed unknown Array rs1494555 8017 10758 0.745213 51 0 85 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 8 - - IL7R Val181Met V181M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - IL7R Thr244Ile T244I protective Low clinical importance, Likely protective undefined Array rs6897932 2261 10758 0.210169 17 0 18 5 5 ! Y 1 Y 5 - 0 Y 4 - 3 - Y - Y Y - Y - 3 - 3 N 10 0 1 The reference genome variant for this allele has been associated with a slight increased risk of multiple sclerosis. Thus, this variant can be treated as a "protective" variant -- carriers of this variant are slightly less likely to have MS. Because the disease is rare and the effect of this variant is not very strong, the absolute decreased risk for carriers of this variant is less than .05% (less than 1 in 2000). IL7R Ile356Val I356V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3194051 3167 10758 0.294386 24 0 28 1 1 - - - - - - - - - - - - Y - - Y - Y - -4 - 3 N 5 - - IL8RA Ser342Leu S342L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL8RA Ser276Thr S276T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL8RA Met31Arg M31R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL9 Thr117Met T117M not reviewed Insufficiently evaluated not reviewed unknown Array rs2069885 1457 10758 0.135434 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ILDR1 His456Tyr H456Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34284625 455 10750 0.0423256 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ILDR1 Arg398His R398H not reviewed Insufficiently evaluated not reviewed unknown Array rs34883204 464 10758 0.0431307 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ILDR1 Ile369Thr I369T not reviewed Insufficiently evaluated not reviewed unknown Array rs16832645 468 10758 0.0435025 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ILDR1 Pro220Arg P220R not reviewed Insufficiently evaluated not reviewed unknown Array rs3915061 3293 10758 0.306098 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ILDR2 Ser347Asn S347N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - ILDR2 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array rs33958744 1643 10758 0.152724 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - ILF2 Gly367Arg G367R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ILK Arg145Ser R145S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ILVBL Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35548653 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 2 - 2 - - ILVBL Ala192Val A192V not reviewed Insufficiently evaluated not reviewed unknown Array rs59102460 76 10758 0.00706451 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - ILVBL Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs34305974 262 10758 0.024354 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - IMMT Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array rs1050301 2506 9516 0.263346 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.462 - - 3 - 0 N - - IMP4 Glu27Lys E27K not reviewed Insufficiently evaluated not reviewed unknown Array rs11542411 1047 9198 0.113829 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.312 - - 0 - 0 N - - IMP5 Arg123Gln R123Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - IMP5 Gly202Ser G202S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IMP5 Ser224Pro S224P not reviewed Insufficiently evaluated not reviewed unknown Array rs62621252 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IMP5 His303Arg H303R not reviewed Insufficiently evaluated not reviewed unknown Array rs242944 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IMP5 Ala332Thr A332T not reviewed Insufficiently evaluated not reviewed unknown Array rs62054815 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IMP5 Arg461Pro R461P not reviewed Insufficiently evaluated not reviewed unknown Array rs12185233 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IMP5 Ile471Val I471V not reviewed Insufficiently evaluated not reviewed unknown Array rs12185268 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IMP5 Gly497Val G497V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IMP5 Ser601Pro S601P not reviewed Insufficiently evaluated not reviewed unknown Array rs12373123 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IMP5 Ser601Phe S601F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IMP5 Gly620Arg G620R not reviewed Insufficiently evaluated not reviewed unknown Array rs12373139 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IMP5 Pro643Arg P643R not reviewed Insufficiently evaluated not reviewed unknown Array rs12373142 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IMP5 Val674Ile V674I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IMPA2 Arg148Gln R148Q not reviewed Insufficiently evaluated not reviewed unknown Array 168 10756 0.0156192 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 10 - - IMPACT Asp125Glu D125E not reviewed Insufficiently evaluated not reviewed unknown Array rs582234 1306 10758 0.121398 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IMPACT Leu151Val L151V not reviewed Insufficiently evaluated not reviewed unknown Array rs677688 9985 10758 0.928146 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IMPAD1 Glu322Lys E322K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - IMPDH1 Met134Arg M134R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - IMPDH1 Met137Arg M137R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - IMPDH1 Met160Arg M160R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - IMPDH1 Met170Arg M170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - IMPDH1 Met85Arg M85R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - IMPDH2 Arg259Gly R259G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - IMPG1 Asp793Asn D793N not reviewed Insufficiently evaluated not reviewed unknown Array 67 10724 0.00624767 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.665 - - -1 - 1 N - - IMPG1 Ser761Asn S761N not reviewed Insufficiently evaluated not reviewed unknown Array rs3778005 2095 10748 0.19492 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - IMPG1 Arg711His R711H not reviewed Insufficiently evaluated not reviewed unknown Array rs3734313 1641 10758 0.152538 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 1 N - - IMPG1 Arg704Trp R704W not reviewed Insufficiently evaluated not reviewed unknown Array rs10943299 1398 10758 0.12995 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IMPG1 Arg580His R580H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - IMPG1 Lys569Arg K569R not reviewed Insufficiently evaluated not reviewed unknown Array rs3734312 104 10758 0.00966722 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 5 - - IMPG1 His518Asp H518D not reviewed Insufficiently evaluated not reviewed unknown Array rs3734311 4832 10758 0.449154 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IMPG1 Gly463Val G463V not reviewed Insufficiently evaluated not reviewed unknown Array rs9443201 71 10758 0.00659974 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - IMPG1 Gly424Glu G424E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IMPG2 Val1100Met V1100M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - IMPG2 Thr674Ile T674I not reviewed Insufficiently evaluated not reviewed unknown Array rs571391 6817 10758 0.633668 51 0 73 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - IMPG2 Glu36Lys E36K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - INADL Tyr134Phe Y134F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.766 - - -4 - 1 N - - INADL Arg139Trp R139W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - INADL Arg153Gly R153G not reviewed Insufficiently evaluated not reviewed unknown Array rs61750905 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - INADL Gly303Arg G303R not reviewed Insufficiently evaluated not reviewed unknown Array rs3762321 733 10758 0.0681353 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - INADL Glu362Ala E362A not reviewed Insufficiently evaluated not reviewed unknown Array rs1286823 893 10756 0.0830234 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 1 N - - INADL Ile400Val I400V not reviewed Insufficiently evaluated not reviewed unknown Array rs7516332 4311 10758 0.400725 34 0 42 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - INADL Ile870Met I870M not reviewed Insufficiently evaluated not reviewed unknown Array rs2799627 10621 10758 0.987265 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - INADL Gly1178Ser G1178S not reviewed Insufficiently evaluated not reviewed unknown Array rs1056513 5215 10758 0.484756 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - INADL Pro1197Ser P1197S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743112 392 10758 0.036438 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - INADL Asn1256Asp N1256D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - INADL Arg1282His R1282H not reviewed Insufficiently evaluated not reviewed unknown Array rs1134767 4814 10758 0.447481 37 0 46 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - INADL Thr1309Ile T1309I not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.976 - - 3 - 2 N - - INADL Val1360Leu V1360L not reviewed Insufficiently evaluated not reviewed unknown Array rs2498982 6556 10758 0.609407 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - INADL Ser1555Asn S1555N not reviewed Insufficiently evaluated not reviewed unknown Array 460 9766 0.0471022 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INCA1 Glu138Asp E138D not reviewed Insufficiently evaluated not reviewed unknown Array 963 10758 0.0895148 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - INCENP Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array rs12281503 378 10758 0.0351366 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - INCENP Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array rs34441559 536 10754 0.0498419 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INCENP Arg278Gln R278Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INCENP Thr294Met T294M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INCENP Met506Thr M506T not reviewed Insufficiently evaluated not reviewed unknown Array rs2277283 2833 10758 0.263339 18 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - INCENP Glu640Asp E640D not reviewed Insufficiently evaluated not reviewed unknown Array rs7129085 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - INCENP Glu644Asp E644D not reviewed Insufficiently evaluated not reviewed unknown Array rs7129085 5255 10696 0.491305 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - INCENP Arg693Gln R693Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 8366 0.000239062 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INCENP Arg697Gln R697Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2277282 455 8366 0.0543868 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - INCENP Gln801His Q801H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INCENP Gln805His Q805H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INF2 Thr1135Met T1135M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10256 0.000195007 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ING1 Gly29Ala G29A not reviewed Insufficiently evaluated not reviewed unknown Array 238 10758 0.0221231 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ING1 Ser78Cys S78C not reviewed Insufficiently evaluated not reviewed unknown Array rs56682720 462 10750 0.0429767 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ING1 Leu125Arg L125R not reviewed Insufficiently evaluated not reviewed unknown Array rs7338333 9891 9900 0.999091 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - INHA Gly21Glu G21E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 1 - 1 - - INHA Gly227Arg G227R not reviewed Insufficiently evaluated not reviewed recessive Array rs12720061 337 10758 0.0313255 2 0 2 1 1 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - This variant was seen as a compound heterozygote (with TP53 R337H) in three Brazilian individuals with low penetrance pediatric adrenocortical tumors. INHBB Ser47Ala S47A not reviewed Insufficiently evaluated not reviewed unknown Array rs11900747 473 5082 0.0930736 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - INHBC Arg322Gln R322Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229357 1932 10758 0.179587 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 0 N - - INMT Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array rs4723010 3785 10758 0.351831 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - INMT His46Pro H46P not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - INMT Ala114Thr A114T not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.13 - - 1 - 0 N - - INMT Met205Val M205V not reviewed Insufficiently evaluated not reviewed unknown Array rs2302339 2876 10758 0.267336 14 0 15 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - INMT Val214Met V214M not reviewed Insufficiently evaluated not reviewed unknown Array rs56800285 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.647 - - 0 - 2 - 1 - - INMT Glu219Gly E219G not reviewed Insufficiently evaluated not reviewed unknown Array rs2302340 3468 10758 0.322365 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.605 - - 6 Y 0 N - - INMT Asn246Ser N246S not reviewed Insufficiently evaluated not reviewed unknown Array rs6970210 490 10758 0.0455475 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INMT Phe254Cys F254C not reviewed Insufficiently evaluated not reviewed unknown Array rs4720015 8457 10758 0.786113 46 0 76 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - INMT Arg258His R258H not reviewed Insufficiently evaluated not reviewed unknown Array rs6970605 549 10758 0.0510318 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - INO80 Ala1488Thr A1488T not reviewed Insufficiently evaluated not reviewed unknown Array rs57318611 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - INO80 Val1108Gly V1108G not reviewed Insufficiently evaluated not reviewed unknown Array rs34178030 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - INO80 Ile882Val I882V not reviewed Insufficiently evaluated not reviewed unknown Array rs34153025 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 1 - 3 - - INO80C Arg171Gln R171Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - INO80C Arg207Gln R207Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INO80D Ala358Val A358V not reviewed Insufficiently evaluated not reviewed unknown Array rs2909111 3083 9644 0.319681 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - INPP1 Met198Ile M198I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.768 - - -1 - 1 N - - INPP1 Thr228Ala T228A not reviewed Insufficiently evaluated not reviewed unknown Array rs7592352 752 10758 0.0699015 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - INPP1 Val355Met V355M not reviewed Insufficiently evaluated not reviewed unknown Array rs35616200 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 1 - 4 - - INPP4A Phe558Leu F558L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INPP4A Phe563Leu F563L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INPP4A Thr599Ala T599A not reviewed Insufficiently evaluated not reviewed unknown Array rs2278206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INPP4A Thr604Ala T604A not reviewed Insufficiently evaluated not reviewed unknown Array rs2278206 804 3234 0.248609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - INPP4B Val748Ile V748I not reviewed Insufficiently evaluated not reviewed unknown Array rs72946960 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INPP4B Gly554Ser G554S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733152 419 10758 0.0389478 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INPP4B Arg382Trp R382W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INPP5A Lys45Arg K45R not reviewed Insufficiently evaluated not reviewed unknown Array rs1133400 1850 10758 0.171965 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - INPP5B Asp871His D871H not reviewed Insufficiently evaluated not reviewed unknown Array rs41311191 1045 9514 0.109838 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - INPP5B Met665Thr M665T not reviewed Insufficiently evaluated not reviewed unknown Array rs11488569 5753 9592 0.599771 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - INPP5B Gly46Ser G46S not reviewed Insufficiently evaluated not reviewed unknown Array rs56993041 271 10278 0.026367 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INPP5D Arg929His R929H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INPP5D Arg930His R930H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INPP5E Gly157Trp G157W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - INPP5F Ala845Pro A845P not reviewed Insufficiently evaluated not reviewed unknown Array rs60994998 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INPP5F Asn997Asp N997D not reviewed Insufficiently evaluated not reviewed unknown Array rs3188055 3328 10758 0.309351 32 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - INPP5J Arg383Gln R383Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INPPL1 Leu632Ile L632I not reviewed Insufficiently evaluated not reviewed unknown Array rs61749194 158 10758 0.0146867 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.762 - - -2 - 1 N - - INPPL1 Arg878Ser R878S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 3 - 2 N - - INPPL1 Ala1083Gly A1083G not reviewed Insufficiently evaluated not reviewed unknown Array rs11548491 1351 10750 0.125674 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - INS-IGF2 Leu144Pro L144P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INSC Arg36His R36H not reviewed Insufficiently evaluated not reviewed unknown Array rs61877970 693 10750 0.0644651 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.319 - - 1 - 0 N - - INSC Val236Ile V236I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INSC Val283Ile V283I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745926 222 10252 0.0216543 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.235 - - -4 - 1 N - - INSC Asp286Asn D286N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - INSC Asp333Asn D333N not reviewed Insufficiently evaluated not reviewed unknown Array rs17507577 631 10484 0.060187 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 - 3 - - INSC Asn397Asp N397D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INSC Asn444Asp N444D not reviewed Insufficiently evaluated not reviewed unknown Array 19 10030 0.00189432 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - INSL3 Thr60Ala T60A not reviewed Insufficiently evaluated not reviewed unknown Array rs6523 6630 9180 0.722222 20 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - INSL4 Gln77His Q77H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INSL5 Gln50Leu Q50L not reviewed Insufficiently evaluated not reviewed unknown Array rs549148 9061 10758 0.842257 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - INSL6 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array rs62620190 261 10758 0.024261 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - INSM2 Asp206Gly D206G not reviewed Insufficiently evaluated not reviewed unknown Array rs1958260 7895 7924 0.99634 23 0 45 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - INSR Ala2Gly A2G not reviewed Insufficiently evaluated not reviewed unknown Array rs7508518 29 0 58 0 0 1 Y - - 5 Y - - - - - - Y - - - - Y - 1 - 3 - 10 - - The many PGP individuals homozygous for INSR-A2G, and the absence of heterozygotes, suggests an error in the reference assembly. INSRR Pro928Leu P928L not reviewed Insufficiently evaluated not reviewed unknown Array rs56252149 22 126 0.174603 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.04 - - 7 Y 0 N - - INTS12 Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - INTS2 Asn768His N768H not reviewed Insufficiently evaluated not reviewed unknown Array rs606072 9538 9618 0.991682 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - INTS2 Pro20Ser P20S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 3 - 2 - - INTS4 Val736Ile V736I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INTS4 Tyr711Stop Y711X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - INTS4 Glu341Gln E341Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - INTS5 Thr731Ser T731S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - INTS5 Ala594Ser A594S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INTS7 Ser509Gly S509G not reviewed Insufficiently evaluated not reviewed unknown Array rs73091070 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - INTS8 Val362Phe V362F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - INTU Asp238Asn D238N not reviewed Insufficiently evaluated not reviewed unknown Array rs58739356 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - INTU Asp352His D352H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - INTU Arg705His R705H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 2 N - - INTU Leu749Phe L749F not reviewed Insufficiently evaluated not reviewed unknown Array rs35858752 123 10758 0.0114334 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INVS Ser242Leu S242L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.969 Y - 6 Y 3 N - - INVS Gly801Glu G801E not reviewed Insufficiently evaluated not reviewed unknown Array 318 10758 0.0295594 4 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - INVS Gly822Ser G822S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - 2 - 1 N - - INVS Gly992Ser G992S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 2 - 1 N - - IP6K1 Arg187Cys R187C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IP6K1 Arg352Cys R352C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - IP6K1 Arg115Cys R115C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - IP6K2 Val17Ile V17I not reviewed Insufficiently evaluated not reviewed unknown Array rs57768168 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - -4 - 1 N - - IP6K3 Val312Ile V312I not reviewed Insufficiently evaluated not reviewed unknown Array rs34332988 3754 10758 0.34895 33 0 32 0 0 - - - - - - - - - - - - - - - - 0.782 - - -4 - 0 N - - IPMK Met349Ile M349I not reviewed Insufficiently evaluated not reviewed unknown Array rs2275443 381 10758 0.0354155 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - IPO11 Lys33Arg K33R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -3 - 0 N - - IPO11 Lys73Arg K73R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IPO4 Ala964Thr A964T not reviewed Insufficiently evaluated not reviewed unknown Array rs59484787 69 10248 0.00673302 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - IPO4 Pro580Ala P580A not reviewed Insufficiently evaluated not reviewed unknown Array rs11550452 3202 10628 0.30128 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - IPO4 Ala513Val A513V not reviewed Insufficiently evaluated not reviewed unknown Array rs7146310 2704 10238 0.264114 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IPO4 His331Arg H331R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 1 - 1 N - - IPO4 Ala301Val A301V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IPO5 Gly801Arg G801R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IPP Lys264Arg K264R not reviewed Insufficiently evaluated not reviewed unknown Array rs28375469 2992 10758 0.278119 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.123 - - -3 - 0 N - - IPPK Lys464Arg K464R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - -3 - 0 N - - IPPK Arg277Trp R277W not reviewed Insufficiently evaluated not reviewed unknown Array rs2277168 3 10756 0.000278914 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 2 - - IQCA1 Arg461His R461H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9746 0.000205212 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - IQCA1 Lys452Arg K452R not reviewed Insufficiently evaluated not reviewed unknown Array rs10204742 784 9660 0.0811594 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - IQCB1 Cys301Tyr C301Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17849995 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - IQCB1 Cys434Tyr C434Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17849995 2530 10758 0.235174 24 0 29 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 6 Y 1 N - - IQCB1 Ile260Asn I260N not reviewed Insufficiently evaluated not reviewed unknown Array rs1141528 2 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - IQCB1 Ile393Asn I393N not reviewed Insufficiently evaluated not reviewed unknown Array rs1141528 1036 10758 0.0963004 7 0 6 0 0 - - - - - - - - - - - - Y - - - 0.067 - - 7 Y 0 N - - IQCC Gln179Lys Q179K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - IQCC Gln259Lys Q259K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IQCC Phe209Cys F209C not reviewed Insufficiently evaluated not reviewed unknown Array rs3903683 21 128 0.164062 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IQCC Phe289Cys F289C not reviewed Insufficiently evaluated not reviewed unknown Array 1549 10758 0.143986 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IQCC Cys217Tyr C217Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12032332 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.372 - - 6 Y 1 N - - IQCC Cys297Tyr C297Y not reviewed Insufficiently evaluated not reviewed unknown Array 431 10758 0.0400632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQCD Arg19Lys R19K not reviewed Insufficiently evaluated not reviewed unknown Array rs60284450 138 10758 0.0128277 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - IQCE Ala530Val A530V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQCE Ala546Val A546V not reviewed Insufficiently evaluated not reviewed unknown Array rs2293404 3084 10336 0.298375 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IQCE Pro570Ser P570S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQCE Pro586Ser P586S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10254 0.00351083 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - IQCE Arg571His R571H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQCE Arg587His R587H not reviewed Insufficiently evaluated not reviewed unknown Array rs10950797 1232 10266 0.120008 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - IQCE Thr580Ala T580A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQCE Thr596Ala T596A not reviewed Insufficiently evaluated not reviewed unknown Array rs2293407 3127 10346 0.302242 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IQCE Arg619Lys R619K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IQCE Arg635Lys R635K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729413 1223 9780 0.125051 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - IQCE Ser622Trp S622W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - IQCE Ser638Trp S638W not reviewed Insufficiently evaluated not reviewed unknown Array 73 9812 0.00743987 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - IQCE Leu650Val L650V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQCE Leu666Val L666V not reviewed Insufficiently evaluated not reviewed unknown Array rs3735109 3906 10276 0.380109 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQCE Thr674Met T674M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQCE Thr690Met T690M not reviewed Insufficiently evaluated not reviewed unknown Array rs1061566 1174 10424 0.112625 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 1 N - - IQCF1 Arg114Gln R114Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11927897 417 10758 0.0387619 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - IQCF1 Lys57Glu K57E not reviewed Insufficiently evaluated not reviewed unknown Array rs57859638 1731 10758 0.160904 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IQCF2 Thr80Met T80M not reviewed Insufficiently evaluated not reviewed unknown Array 343 10758 0.0318832 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.097 - - 2 - 0 N - - IQCF6 Tyr91Cys Y91C not reviewed Insufficiently evaluated not reviewed unknown Array 99 3234 0.0306122 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - IQCF6 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 711 3234 0.219852 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQCG Asp177His D177H not reviewed Insufficiently evaluated not reviewed unknown Array rs67877771 2833 10758 0.263339 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 1 N - - IQCG Ala112Asp A112D not reviewed Insufficiently evaluated not reviewed unknown Array rs9880989 2830 10758 0.26306 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - IQCH Val68Leu V68L not reviewed Insufficiently evaluated not reviewed unknown Array 126 10750 0.0117209 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - IQCH Val593Leu V593L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQCH Val932Leu V932L not reviewed Insufficiently evaluated not reviewed unknown Array rs3985641 10730 10758 0.997397 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQCK Leu220Pro L220P not reviewed Insufficiently evaluated not reviewed unknown Array rs7191155 1588 10758 0.147611 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 0 N - - IQGAP1 Ser256Ala S256A not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 4 - - IQGAP2 Ala217Glu A217E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQGAP2 Met442Val M442V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQGAP2 Val455Ala V455A not reviewed Insufficiently evaluated not reviewed unknown Array rs7722711 524 10758 0.0487079 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - IQGAP2 Asp527Glu D527E not reviewed Insufficiently evaluated not reviewed unknown Array rs2431352 10184 10758 0.946644 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IQGAP2 Lys532Glu K532E not reviewed Insufficiently evaluated not reviewed unknown Array rs2909888 10753 10758 0.999535 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQGAP2 Leu629Phe L629F not reviewed Insufficiently evaluated not reviewed unknown Array rs2455230 6239 10758 0.57994 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQGAP2 Glu662Gly E662G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQGAP2 Ile724Val I724V not reviewed Insufficiently evaluated not reviewed unknown Array rs2431363 5427 10758 0.504462 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IQGAP2 Thr894Ile T894I not reviewed Insufficiently evaluated not reviewed unknown Array rs34950321 163 10744 0.0151713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQGAP3 Val825Leu V825L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQGAP3 Arg663Cys R663C not reviewed Insufficiently evaluated not reviewed unknown Array rs744224 3058 10758 0.284254 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - IQGAP3 Gly649Ser G649S not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQGAP3 Asp645Asn D645N not reviewed Insufficiently evaluated not reviewed unknown Array rs11264496 208 10758 0.0193344 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - IQGAP3 Arg593Leu R593L not reviewed Insufficiently evaluated not reviewed unknown Array rs59573847 290 10758 0.0269567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQGAP3 Ala562Thr A562T not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQGAP3 Ala446Ser A446S not reviewed Insufficiently evaluated not reviewed unknown Array rs72996647 29 10758 0.00269567 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IQGAP3 Val410Leu V410L not reviewed Insufficiently evaluated not reviewed unknown Array rs11264498 5364 10758 0.498606 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQGAP3 Arg391Gly R391G not reviewed Insufficiently evaluated not reviewed unknown Array rs2488269 10292 10758 0.956683 47 0 88 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IQGAP3 Trp10Arg W10R not reviewed Insufficiently evaluated not reviewed unknown Array rs60225867 780 10758 0.0725042 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IQSEC1 Tyr806His Y806H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IQSEC1 Tyr820His Y820H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - -1 - 1 N - - IQSEC1 Pro626Ser P626S not reviewed Insufficiently evaluated not reviewed unknown Array rs35319679 1100 10758 0.102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IQSEC1 Pro640Ser P640S not reviewed Insufficiently evaluated not reviewed unknown Array rs35319679 12 128 0.09375 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - IQSEC1 Arg418Gly R418G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQSEC1 Arg432Gly R432G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - IQSEC3 Asp162Gly D162G not reviewed Insufficiently evaluated not reviewed unknown Array 1047 10562 0.099129 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IQSEC3 Gln211His Q211H not reviewed Insufficiently evaluated not reviewed unknown Array 498 10740 0.0463687 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IQSEC3 Asp244Val D244V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IQSEC3 Glu248Asp E248D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IQSEC3 Asp249His D249H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQSEC3 Ala255Gly A255G not reviewed Insufficiently evaluated not reviewed unknown Array rs56204927 6364 9730 0.65406 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IQUB Arg735Pro R735P not reviewed Insufficiently evaluated not reviewed unknown Array rs1525626 586 10754 0.0544914 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IQUB Arg638Gln R638Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60409072 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQUB Val126Met V126M not reviewed Insufficiently evaluated not reviewed unknown Array rs10255061 2765 10756 0.257066 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IQUB Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQWD1 Val547Ala V547A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQWD1 Val567Ala V567A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQWD1 Ala556Thr A556T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQWD1 Ala576Thr A576T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQWD1 Leu589His L589H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQWD1 Leu609His L609H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRAK1 Ser453Leu S453L not reviewed Insufficiently evaluated not reviewed unknown Array rs1059703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRAK1 Ser532Leu S532L not reviewed Insufficiently evaluated not reviewed unknown Array rs1059703 6733 8644 0.778922 40 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IRAK1 Cys203Ser C203S not reviewed Insufficiently evaluated not reviewed unknown Array rs10127175 207 8761 0.0236274 4 0 7 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 1 - 10 - - IRAK1 Phe196Ser F196S not reviewed Insufficiently evaluated not reviewed unknown Array rs1059702 7853 8761 0.896359 44 0 85 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IRAK2 Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 2 - - IRAK2 Leu358Met L358M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -3 - 0 N - - IRAK2 Leu392Val L392V not reviewed Insufficiently evaluated not reviewed unknown Array rs3844283 3816 10758 0.354713 30 0 42 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - IRAK2 Asp431Glu D431E not reviewed Insufficiently evaluated not reviewed unknown Array rs708035 7294 10758 0.678007 50 0 87 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IRAK3 Ala23Pro A23P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - IRAK3 His57Arg H57R not reviewed Insufficiently evaluated not reviewed unknown Array rs35239505 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - IRAK3 Ile147Val I147V not reviewed Insufficiently evaluated not reviewed unknown Array rs1152888 8432 10752 0.784226 46 0 80 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IRAK3 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array rs1152888 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IRAK3 Tyr119Stop Y119X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IRAK3 Tyr180Stop Y180X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IRAK4 Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - IRAK4 Ala428Thr A428T not reviewed Insufficiently evaluated not reviewed unknown Array rs4251545 1706 10748 0.158727 16 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 1 - - IREB2 Val159Leu V159L not reviewed Insufficiently evaluated not reviewed unknown Array rs2958720 10401 10758 0.966815 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IREB2 Ile580Thr I580T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230940 10379 10756 0.96495 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IRF2BP1 Ala414Gly A414G not reviewed Insufficiently evaluated not reviewed unknown Array rs60158447 101 10520 0.00960076 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - IRF2BP2 Ala254Val A254V not reviewed Insufficiently evaluated not reviewed unknown Array rs11502 441 7828 0.0563362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - IRF2BP2 Ser78Pro S78P not reviewed Insufficiently evaluated not reviewed unknown Array 3468 4114 0.842975 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IRF3 Ser427Thr S427T not reviewed Insufficiently evaluated not reviewed unknown Array rs7251 4743 10746 0.441374 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IRF4 Ser149Asn S149N not reviewed Insufficiently evaluated not reviewed unknown Array rs73717071 347 10758 0.0322551 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRF5 Arg175Gln R175Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRF5 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60344245 1948 9622 0.202453 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IRF5 Leu440Pro L440P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IRF5 Leu450Pro L450P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IRF5 Leu456Pro L456P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IRF5 Leu466Pro L466P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IRF6 Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array rs2235371 120 10758 0.0111545 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.54 Y Y -4 - 4 - 10 - - IRF7 Gln383Arg Q383R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRF7 Gln412Arg Q412R not reviewed Insufficiently evaluated not reviewed unknown Array rs1131665 3842 10730 0.358062 17 0 26 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IRF7 Gln425Arg Q425R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRF7 Lys179Glu K179E not reviewed Insufficiently evaluated not reviewed unknown Array rs1061502 3972 10738 0.369901 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - IRF7 Lys192Glu K192E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRGC Asp135Asn D135N not reviewed Insufficiently evaluated not reviewed unknown Array rs11555891 174 10750 0.016186 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - IRGC Glu337Asp E337D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - -2 - 0 N - - IRGC Val417Met V417M not reviewed Insufficiently evaluated not reviewed unknown Array rs34065854 92 10758 0.00855177 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - IRGC Gly429Arg G429R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - IRGM Thr94Lys T94K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 2 N - - IRGQ Phe432Leu F432L not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 1 N - - IRS1 Asp1137Asn D1137N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 2 - 7 - - IRS1 Gly971Arg G971R not reviewed Insufficiently evaluated not reviewed unknown Array rs1801278 712 10758 0.0661833 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 - 9 - - IRS1 Pro479Ser P479S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - 3 - 2 N - - IRS2 Gly1057Asp G1057D protective Low clinical importance, Uncertain protective unknown Array rs1805097 2288 9836 0.232615 27 0 32 1 1 - - - - 2 - - - - - - - - Y - - 0.024 - - 4 Y 2 N 0 0 a.k.a Gly1057Asp, insulin receptor substrate-2 IRS2. The rs1805097(G) allele is associated with the Gly, and the (A) allele with Asp. A longevity study concluded that rs1805097(A;A) individuals were about twice as likely to live over 85 y/o (odds ratio 2.03, CI:1.39-2.99, p = .0003). IRS2 Ser667Asn S667N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10532 0.000379794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - IRS2 Ala436Gly A436G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - IRS4 Asp1230Tyr D1230Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28546943 288 8761 0.032873 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 3 - 2 - - IRS4 His879Asp H879D not reviewed Insufficiently evaluated not reviewed unknown Array rs1801164 3141 8761 0.358521 31 0 52 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IRS4 Asn508Lys N508K not reviewed Insufficiently evaluated not reviewed unknown Array rs34287560 512 8761 0.0584408 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IRS4 Arg411Gln R411Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 8761 0.00422326 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - IRS4 Leu34Phe L34F not reviewed Insufficiently evaluated not reviewed unknown Array 512 8757 0.0584675 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IRX2 Glu255Asp E255D not reviewed Insufficiently evaluated not reviewed unknown Array 1203 10720 0.11222 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.574 - - -2 - 0 N - - IRX3 Gln479His Q479H not reviewed Insufficiently evaluated not reviewed unknown Array rs1126960 2398 10756 0.222945 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.14 - - -1 - 0 N - - IRX3 Leu422Pro L422P not reviewed Insufficiently evaluated not reviewed unknown Array 4715 4814 0.979435 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IRX3 Ser293Stop S293X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IRX4 Ser473Ala S473A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 1 - 2 - - IRX4 Ala423Thr A423T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IRX4 Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232376 2291 10756 0.212997 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IRX5 Pro255Thr P255T not reviewed Insufficiently evaluated not reviewed unknown Array rs13336114 2668 9978 0.267388 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - IRX5 Gly395Arg G395R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10652 9.3879e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRX6 Arg32His R32H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - IRX6 Lys215Gln K215Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - IRX6 Arg252Gln R252Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10668 0.000468691 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - IRX6 Ala276Thr A276T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742379 102 10724 0.00951138 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - ISCU Phe7Val F7V not reviewed Insufficiently evaluated not reviewed unknown Array 5041 5922 0.851233 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 7 - - ISCU Phe7Cys F7C not reviewed Insufficiently evaluated not reviewed unknown Array 5047 5934 0.850522 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 8 - - ISCU Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array rs2287555 4307 6850 0.628759 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - ISG15 Ser83Asn S83N not reviewed Insufficiently evaluated not reviewed unknown Array rs1921 4302 10756 0.399963 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - ISG20L2 Asn130Ser N130S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795737 1044 10758 0.0970441 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ISLR2 Ser137Phe S137F not reviewed Insufficiently evaluated not reviewed unknown Array rs3889598 248 10758 0.0230526 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ISM2 Lys387Glu K387E not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ISM2 Ala94Thr A94T not reviewed Insufficiently evaluated not reviewed unknown Array rs3742728 5605 10758 0.521008 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ISX Ser28Gly S28G not reviewed Insufficiently evaluated not reviewed unknown Array rs361863 7862 10758 0.730805 52 0 78 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ISX Pro49Ser P49S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739193 471 10754 0.0437977 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.928 - - 3 - 2 N - - ISX Pro57Ser P57S not reviewed Insufficiently evaluated not reviewed unknown Array rs362090 5262 10754 0.489306 40 0 54 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ISX Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8140287 422 10758 0.0392266 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 3 - - ISX Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array rs7291048 816 10758 0.0758505 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - ISX Gly238Val G238V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735036 195 10758 0.018126 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.895 - - 8 Y 2 N - - ITFG3 Ala139Val A139V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10062 0.000298151 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ITFG3 Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73486203 65 10442 0.00622486 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITFG3 Pro335Arg P335R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 5 Y 1 N - - ITGA1 Thr480Met T480M not reviewed Insufficiently evaluated not reviewed unknown Array rs4145748 567 10758 0.052705 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 1 N - - ITGA1 Val670Ile V670I not reviewed Insufficiently evaluated not reviewed unknown Array rs2279587 572 10756 0.0531796 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - ITGA1 Ile961Met I961M not reviewed Insufficiently evaluated not reviewed unknown Array rs12520591 559 10700 0.052243 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.817 - - -1 - 0 N - - ITGA1 Glu1108Gly E1108G not reviewed Insufficiently evaluated not reviewed unknown Array rs988574 972 10758 0.0903514 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - ITGA10 Arg381Gln R381Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6665210 67 10758 0.00622792 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 5 - - ITGA10 Ala702Thr A702T not reviewed Insufficiently evaluated not reviewed unknown Array rs35515885 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 1 - 2 - 6 - - ITGA10 Arg725Gln R725Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2274616 1539 10758 0.143056 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 0 N - - ITGA10 Leu1110Pro L1110P not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - ITGA11 Pro972Leu P972L not reviewed Insufficiently evaluated not reviewed unknown Array rs4777035 6119 10332 0.592238 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ITGA11 Gln891Lys Q891K not reviewed Insufficiently evaluated not reviewed unknown Array rs2271725 1046 10266 0.10189 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ITGA11 Leu524Arg L524R not reviewed Insufficiently evaluated not reviewed unknown Array rs7168069 8409 9940 0.845976 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ITGA11 Arg472Trp R472W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 7 Y 1 N - - ITGA11 Met471Leu M471L not reviewed Insufficiently evaluated not reviewed unknown Array rs2306024 965 10172 0.0948683 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ITGA11 Arg407His R407H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729767 68 9964 0.00682457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - ITGA2 Glu534Lys E534K not reviewed Insufficiently evaluated not reviewed unknown Array rs1801106 1367 10758 0.127068 13 0 14 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 3 - - ITGA2 Ala770Thr A770T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.098 Y - 1 - 1 N - - ITGA2 Asn927Ser N927S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - ITGA2B Ile874Ser I874S not reviewed Insufficiently evaluated not reviewed unknown Array rs5911 4070 10720 0.379664 35 0 48 0 0 3 Y - - - - - - - - - - Y - - - - Y - 5 Y 2 - 2 - - ITGA2B Val649Leu V649L not reviewed Insufficiently evaluated not reviewed unknown Array rs7207402 50 10736 0.00465723 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ITGA3 Ala719Thr A719T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230392 703 10758 0.0653467 12 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ITGA4 Arg878Gln R878Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1143676 6840 9744 0.70197 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ITGA5 Arg948Gln R948Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - ITGA6 Ala380Thr A380T not reviewed Insufficiently evaluated not reviewed unknown Array rs11895564 3398 10758 0.315858 37 0 43 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - ITGA6 Asp766Tyr D766Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2737085 315 10758 0.0292805 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - ITGA6 Val930Met V930M not reviewed Insufficiently evaluated not reviewed unknown Array rs10209072 400 10758 0.0371816 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - ITGA7 Arg558His R558H not reviewed Insufficiently evaluated not reviewed unknown Array rs1800974 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGA7 Arg651His R651H not reviewed Insufficiently evaluated not reviewed unknown Array rs1800974 63 124 0.508065 38 0 54 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - ITGA7 Arg655His R655H not reviewed Insufficiently evaluated not reviewed unknown Array rs1800974 4875 10758 0.453151 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - ITGA7 Arg444Trp R444W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ITGA7 Arg537Trp R537W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733050 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ITGA7 Arg541Trp R541W not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ITGA8 Val994Ala V994A not reviewed Insufficiently evaluated not reviewed unknown Array rs1041135 10364 10758 0.963376 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITGA8 Arg748His R748H not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 4 - - ITGA8 Gln581Pro Q581P not reviewed Insufficiently evaluated not reviewed unknown Array rs9333269 691 10758 0.0642313 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.215 - - 4 Y 0 N - - ITGA8 Ser577Phe S577F not reviewed Insufficiently evaluated not reviewed unknown Array rs2298033 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - ITGA8 Val216Leu V216L not reviewed Insufficiently evaluated not reviewed unknown Array rs7895372 375 10758 0.0348578 2 0 2 0 0 - - - - - - - - - - - - - - Y - 0.004 - - 0 - 2 N 5 - - ITGA9 Ile274Ser I274S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 5 Y 0 N - - ITGA9 Gly507Glu G507E not reviewed Insufficiently evaluated not reviewed unknown Array rs267561 5824 10758 0.541365 42 0 61 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - ITGA9 Gln632Arg Q632R not reviewed Insufficiently evaluated not reviewed unknown Array rs57547208 541 10758 0.0502882 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ITGAE Val1019Ala V1019A not reviewed Insufficiently evaluated not reviewed unknown Array rs2976230 3656 10758 0.33984 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITGAE Ala953Ser A953S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAE Arg950Trp R950W not reviewed Insufficiently evaluated not reviewed unknown Array rs1716 2734 10758 0.254136 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ITGAE Gln892His Q892H not reviewed Insufficiently evaluated not reviewed unknown Array rs3744679 712 10758 0.0661833 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 6 - - ITGAE His621Gln H621Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAE Arg482Gln R482Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2272606 7806 10758 0.7256 46 0 69 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ITGAE Ile477Val I477V not reviewed Insufficiently evaluated not reviewed unknown Array rs220479 9282 10758 0.8628 48 0 80 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ITGAE Thr323Met T323M not reviewed Insufficiently evaluated not reviewed unknown Array rs71366574 201 10758 0.0186838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGAL Arg131Trp R131W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITGAL Arg214Trp R214W not reviewed Insufficiently evaluated not reviewed unknown Array rs1064524 363 10758 0.0337423 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITGAL Gln746Lys Q746K not reviewed Insufficiently evaluated not reviewed unknown Array rs34838942 437 10756 0.0406285 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.361 - - -2 - 2 - 3 - - ITGAL Arg707Thr R707T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230433 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGAL Arg791Thr R791T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230433 3607 10758 0.335285 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ITGAL Ser905Arg S905R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.842 - - 3 - 1 N - - ITGAL Ser989Arg S989R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGAL Arg1020His R1020H not reviewed Insufficiently evaluated not reviewed unknown Array rs59353760 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - ITGAL Arg936His R936H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITGAM Met441Thr M441T not reviewed Insufficiently evaluated not reviewed unknown Array rs11861251 1594 10316 0.154517 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITGAM Ala858Val A858V not reviewed Insufficiently evaluated not reviewed unknown Array rs1143683 21 128 0.164062 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITGAM Ala859Val A859V not reviewed Insufficiently evaluated not reviewed unknown Array rs1143683 1653 10114 0.163437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITGAM Pro1146Ser P1146S not reviewed Insufficiently evaluated not reviewed unknown Array rs1143678 22 126 0.174603 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.374 - - 3 - 0 N - - ITGAM Pro1147Ser P1147S not reviewed Insufficiently evaluated not reviewed unknown Array rs1143678 1601 9878 0.162077 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ITGAV Ile359Val I359V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGAV Ile369Val I369V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGAV Ile405Val I405V not reviewed Insufficiently evaluated not reviewed unknown Array rs3738918 257 10758 0.0238892 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGAV Ser502Ala S502A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ITGAV Ser512Ala S512A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ITGAV Ser548Ala S548A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230615 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ITGAV Val737Ile V737I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230616 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGAV Val747Ile V747I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230616 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGAV Val783Ile V783I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230616 10664 10758 0.991262 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ITGAV Ala1003Ser A1003S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAV Ala957Ser A957S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAV Ala967Ser A967S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAX Trp48Arg W48R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230424 1058 10758 0.0983454 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.383 - - 7 Y 0 N - - ITGAX Ala251Thr A251T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230428 1696 10758 0.15765 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ITGAX Ile313Val I313V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGAX Ile454Leu I454L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.601 - - -2 - 1 N - - ITGAX Pro517Arg P517R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230429 3157 10758 0.293456 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - ITGAX Thr1073Met T1073M not reviewed Insufficiently evaluated not reviewed unknown Array rs59889488 153 10758 0.014222 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.072 - - 2 - 0 N - - ITGB1BP2 Tyr170Stop Y170X not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ITGB2 Gln354His Q354H not reviewed Insufficiently evaluated not reviewed unknown Array rs235330 10757 10758 0.999907 56 0 112 0 0 - - - - - - - - - - - - Y - - - 0.543 Y - -1 - 2 - 1 - - ITGB2 Val20Ile V20I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGB3 Leu59Pro L59P not reviewed Insufficiently evaluated not reviewed unknown Array rs5918 1452 10758 0.134969 12 0 14 0 0 1 Y - - - - - - - - - - Y - - - 0.02 Y - 7 Y 2 - 8 - - ITGB3 Gln112Arg Q112R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - ITGB3 Ser411Phe S411F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 5 Y 3 N - - ITGB4 Gly1200Arg G1200R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 6 Y 4 N - - ITGB4 Leu1709Pro L1709P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - ITGB4 Leu1762Pro L1762P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - ITGB4 Leu1779Pro L1779P not reviewed Insufficiently evaluated not reviewed unknown Array rs871443 6497 10754 0.604147 39 0 61 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - ITGB5 Gly478Arg G478R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.8 - - 6 Y 1 N - - ITGB5 Asn477Ser N477S not reviewed Insufficiently evaluated not reviewed unknown Array rs2291087 527 10758 0.0489868 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGB5 Arg431Gln R431Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2291089 112 10756 0.0104128 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 4 - - ITGB5 Leu428Val L428V not reviewed Insufficiently evaluated not reviewed unknown Array rs2291090 528 10756 0.0490889 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGB8 Cys481Tyr C481Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - ITGBL1 Ala154Ser A154S not reviewed Insufficiently evaluated not reviewed unknown Array rs1140605 957 10758 0.0889571 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ITGBL1 Pro401Leu P401L not reviewed Insufficiently evaluated not reviewed unknown Array rs62637619 214 10758 0.0198922 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ITGBL1 Asn405Asp N405D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - -1 - 0 N - - ITIH1 Glu585Val E585V not reviewed Insufficiently evaluated not reviewed unknown Array rs678 3191 10758 0.296616 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.884 - - 5 Y 1 N - - ITIH1 Gln595Arg Q595R not reviewed Insufficiently evaluated not reviewed unknown Array rs1042779 4526 10758 0.42071 41 0 51 0 0 - - - - - - - - - - - - - - Y - 0.001 - - 0 - 1 N - - ITIH1 His881Arg H881R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ITIH2 Ser60Leu S60L not reviewed Insufficiently evaluated not reviewed unknown Array rs73621253 725 10758 0.0673917 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ITIH2 Asn263Ser N263S not reviewed Insufficiently evaluated not reviewed unknown Array rs7075296 10643 10758 0.98931 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ITIH2 Glu289Lys E289K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH2 Asn467Ser N467S not reviewed Insufficiently evaluated not reviewed unknown Array rs35524242 434 10758 0.0403421 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH2 Leu569Val L569V not reviewed Insufficiently evaluated not reviewed unknown Array rs7084817 408 10758 0.0379253 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH2 Ser668Pro S668P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITIH2 Pro674Ala P674A not reviewed Insufficiently evaluated not reviewed unknown Array rs3740217 499 10758 0.0463841 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITIH2 Asn921Ser N921S not reviewed Insufficiently evaluated not reviewed unknown Array rs73628457 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH3 Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10046 9.9542e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - ITIH3 Gln315Lys Q315K not reviewed Insufficiently evaluated not reviewed unknown Array rs3617 5294 9774 0.541641 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ITIH3 Thr340Met T340M not reviewed Insufficiently evaluated not reviewed unknown Array rs35271262 339 10018 0.0338391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - ITIH3 Thr751Ala T751A not reviewed Insufficiently evaluated not reviewed unknown Array rs9883888 134 10056 0.0133254 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 4 - - ITIH3 Ala858Val A858V not reviewed Insufficiently evaluated not reviewed unknown Array rs2710329 540 10034 0.053817 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITIH4 Leu791Pro L791P not reviewed Insufficiently evaluated not reviewed unknown Array rs2535621 1277 10758 0.118702 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ITIH4 Met714Ile M714I not reviewed Insufficiently evaluated not reviewed unknown Array rs2256734 1283 10752 0.119327 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ITIH4 Pro698Thr P698T not reviewed Insufficiently evaluated not reviewed unknown Array rs4687657 2680 10748 0.249349 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ITIH4 Gln669Leu Q669L not reviewed Insufficiently evaluated not reviewed unknown Array rs2276814 1287 10758 0.119632 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ITIH4 Ile85Asn I85N not reviewed Insufficiently evaluated not reviewed unknown Array rs13072536 2450 10758 0.227738 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ITIH5 Met718Ile M718I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITIH5 Met932Ile M932I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - ITIH5 Phe711Ser F711S not reviewed Insufficiently evaluated not reviewed unknown Array rs10795551 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITIH5 Phe925Ser F925S not reviewed Insufficiently evaluated not reviewed unknown Array rs10795551 10413 10758 0.967931 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ITIH5 Arg415Cys R415C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - ITIH5 Arg629Cys R629C not reviewed Insufficiently evaluated not reviewed unknown Array rs34213756 82 10750 0.00762791 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.128 - - 8 Y 1 - 2 - - ITIH5 Thr356Pro T356P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ITIH5 Thr570Pro T570P not reviewed Insufficiently evaluated not reviewed unknown Array rs2275069 5286 10758 0.491355 33 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ITIH5 Val282Met V282M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ITIH5 Val496Met V496M not reviewed Insufficiently evaluated not reviewed unknown Array rs35892621 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - ITIH5 Arg246His R246H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITIH5 Arg460His R460H not reviewed Insufficiently evaluated not reviewed unknown Array rs34310163 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.667 - - 1 - 1 N - - ITIH5 Ala162Val A162V not reviewed Insufficiently evaluated not reviewed unknown Array rs41298373 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITIH5 Ala376Val A376V not reviewed Insufficiently evaluated not reviewed unknown Array rs41298373 839 10758 0.0779885 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 1 N - - ITIH5L Trp1041Ser W1041S not reviewed Insufficiently evaluated not reviewed unknown Array rs17316491 564 8761 0.0643762 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 - 4 - - ITIH5L Gly387Arg G387R not reviewed Insufficiently evaluated not reviewed unknown Array rs34188213 586 8760 0.066895 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.08 - - 6 Y 0 N - - ITK Glu137Gly E137G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - ITLN1 Gly214Cys G214C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ITLN1 Val109Asp V109D not reviewed Insufficiently evaluated not reviewed unknown Array rs2274907 6226 10758 0.578732 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ITLN2 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array 413 10758 0.03839 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ITLN2 Gln171Arg Q171R not reviewed Insufficiently evaluated not reviewed unknown Array rs12090411 372 10758 0.0345789 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ITLN2 Ser168Pro S168P not reviewed Insufficiently evaluated not reviewed unknown Array 646 10758 0.0600483 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 0 N - - ITLN2 Arg103His R103H not reviewed Insufficiently evaluated not reviewed unknown Array rs6680969 5284 10758 0.491169 42 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ITLN2 Val97Met V97M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 0 - 1 N - - ITLN2 Cys42Tyr C42Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - ITM2C Gly53Ser G53S not reviewed Insufficiently evaluated not reviewed unknown Array rs2289235 4333 10758 0.40277 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ITPA Pro15Thr P15T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - 4 Y 2 N - - ITPA Pro32Thr P32T pharmacogenetic Low clinical importance, pharmacogenetic recessive Array rs1127354 656 10758 0.0609779 7 0 7 6 6 2 Y 2 Y 5 Y 0 - 3 Y 2 Y - Y - - 0.006 - - 4 Y 2 N 0 2 This variant is associated with inosine triphosphate pyrophosphohydrolase deficiency and may be associated with an adverse reaction to thiopurine drugs (which are used as immunosuppressants). Homozygotes have no detectable ITPase activity, individuals compound heterozygous with another less severe mutation also have severely reduced enzyme activity. ITPKB Pro552Gln P552Q not reviewed Insufficiently evaluated not reviewed unknown Array rs708776 10310 10758 0.958357 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ITPKB Ser408Ala S408A not reviewed Insufficiently evaluated not reviewed unknown Array rs6667260 5531 10746 0.514703 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ITPKB Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array rs3754413 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - ITPKB Ala307Ser A307S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - -1 - 2 - 4 - - ITPKB Ser197Arg S197R not reviewed Insufficiently evaluated not reviewed unknown Array rs16846447 3 10720 0.00027985 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 1 - 5 - - ITPKB Ser176Pro S176P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 3 - 4 - - ITPKB Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array rs3754415 1936 10694 0.181036 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - ITPKB Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 3 7430 0.000403768 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 1 - 1 - - ITPKC Gly103Arg G103R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 6 Y 1 N - - ITPKC Trp241Arg W241R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 7 Y 0 N - - ITPR1 Met754Val M754V not reviewed Insufficiently evaluated not reviewed unknown Array rs35789999 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - ITPR1 Met769Val M769V not reviewed Insufficiently evaluated not reviewed unknown Array rs35789999 100 10348 0.0096637 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.59 - Y 0 - 2 N - - ITPR1 Lys1210Arg K1210R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - ITPR1 Lys1225Arg K1225R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - ITPR1 Ile1406Val I1406V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - ITPR1 Ile1421Val I1421V not reviewed Insufficiently evaluated not reviewed unknown Array rs3749383 1 9708 0.000103007 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - ITPR1 Thr1850Pro T1850P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - ITPR1 Thr1865Pro T1865P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - ITPR1 Arg2381Cys R2381C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - ITPR1 Arg2396Cys R2396C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - ITPR2 Lys1197Arg K1197R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - ITPR2 Glu1143Asp E1143D not reviewed Insufficiently evaluated not reviewed unknown Array rs16931091 391 9758 0.0400697 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ITPR2 Met941Ile M941I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10322 9.688e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITPR2 Val518Ile V518I not reviewed Insufficiently evaluated not reviewed unknown Array 28 9472 0.00295608 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITPR3 Arg1850Gln R1850Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12528378 754 10758 0.0700874 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ITPR3 Val2295Met V2295M not reviewed Insufficiently evaluated not reviewed unknown Array rs59525809 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPR3 Leu2436Val L2436V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229642 4408 10758 0.409742 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ITPRIPL1 Val370Leu V370L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - 0 - 1 N - - ITPRIPL1 Val378Leu V378L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPRIPL1 Thr463Met T463M not reviewed Insufficiently evaluated not reviewed unknown Array rs2279105 31 128 0.242188 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 1 N - - ITPRIPL1 Thr471Met T471M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITPRIPL1 Gly482Ser G482S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 2 - 2 N - - ITPRIPL1 Gly490Ser G490S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITPRIPL2 Arg342Leu R342L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - ITPRIPL2 Pro522Ser P522S not reviewed Insufficiently evaluated not reviewed unknown Array rs11074362 654 10756 0.0608033 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.716 - - 3 - 0 N - - ITSN1 Lys1367Arg K1367R not reviewed Insufficiently evaluated not reviewed unknown Array rs56279221 672 10758 0.0624651 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.861 - - -3 - 1 N - - ITSN1 Asp1536Glu D1536E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - -2 - 1 N - - ITSN2 Ala1507Thr A1507T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITSN2 Ala1534Thr A1534T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303291 1947 10758 0.180982 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ITSN2 Arg1310Trp R1310W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITSN2 Arg1337Trp R1337W not reviewed Insufficiently evaluated not reviewed unknown Array 323 10758 0.0300242 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ITSN2 Val291Ile V291I not reviewed Insufficiently evaluated not reviewed unknown Array rs7603997 3923 10756 0.364727 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IVD His33Tyr H33Y not reviewed Insufficiently evaluated not reviewed unknown Array 111 10756 0.0103198 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 8 - - IVD Val259Gly V259G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - IVD Val289Gly V289G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - IVL Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229496 2790 10758 0.259342 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IVL Gln179Glu Q179E not reviewed Insufficiently evaluated not reviewed unknown Array 287 10746 0.0267076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IVL Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 210 10738 0.0195567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IVL Glu187Gln E187Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IVL Gln237Glu Q237E not reviewed Insufficiently evaluated not reviewed unknown Array rs7520711 1522 8226 0.185023 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IVL Leu255Phe L255F not reviewed Insufficiently evaluated not reviewed unknown Array 176 9614 0.0183066 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IVL Val480Leu V480L not reviewed Insufficiently evaluated not reviewed unknown Array rs7545520 2621 10646 0.246196 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IYD His80Pro H80P not reviewed Insufficiently evaluated not reviewed unknown Array rs73617666 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.36 Y - 5 Y 3 - 2 - - IYD Arg246Gln R246Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73619510 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.075 Y - 0 - 1 N - - IYD Glu271Lys E271K not reviewed Insufficiently evaluated not reviewed unknown Array rs36063028 811 10758 0.0753858 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 0 - 1 N - - IZUMO1 Ala333Val A333V not reviewed Insufficiently evaluated not reviewed unknown Array rs2307018 4283 10758 0.398122 39 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IZUMO1 Asp63Asn D63N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - JAG2 Pro1171Leu P1171L not reviewed Insufficiently evaluated not reviewed unknown Array rs56753050 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - JAG2 Pro1209Leu P1209L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - JAG2 Arg1079Trp R1079W not reviewed Insufficiently evaluated not reviewed unknown Array 61 10716 0.00569242 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - JAG2 Arg1117Trp R1117W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 3 - 1 - - JAG2 Thr1037Met T1037M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10614 0.00018843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JAG2 Thr1075Met T1075M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JAG2 Glu914Lys E914K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JAG2 Glu952Lys E952K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - JAG2 Arg650His R650H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10714 0.000933358 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JAG2 Arg688His R688H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - JAG2 Asp500Asn D500N not reviewed Insufficiently evaluated not reviewed unknown Array rs9972231 1025 10756 0.0952956 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - JAG2 Asp538Asn D538N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.328 - - -1 - 1 N - - JAG2 Glu463Lys E463K not reviewed Insufficiently evaluated not reviewed unknown Array rs1057744 6371 10364 0.614724 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - JAG2 Glu501Lys E501K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JAK2 Asp1096Glu D1096E not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.056 - - -2 - 0 N - - JAKMIP1 Leu475Trp L475W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 1 N - - JAKMIP1 Leu420Val L420V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - JAKMIP1 Glu135Lys E135K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 0 - 2 N - - JAKMIP2 Leu589Gln L589Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 1 N - - JAKMIP2 Val106Ile V106I not reviewed Insufficiently evaluated not reviewed unknown Array rs3749736 9 10758 0.000836586 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - JAKMIP3 Met493Val M493V not reviewed Insufficiently evaluated not reviewed unknown Array rs11592585 2821 10734 0.26281 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - JAM2 Ser183Phe S183F not reviewed Insufficiently evaluated not reviewed unknown Array rs73897031 66 9756 0.00676507 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 5 Y 1 N - - JAM2 Ser286Arg S286R not reviewed Insufficiently evaluated not reviewed unknown Array rs9976382 159 9564 0.0166248 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.16 - - 3 - 1 - 5 - - JAM3 Val195Ala V195A not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JDP2 Thr13Ala T13A not reviewed Insufficiently evaluated not reviewed unknown Array rs3625 77 128 0.601562 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - JDP2 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array rs3625 6518 10756 0.605987 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - JHDM1D Asn705Ser N705S not reviewed Insufficiently evaluated not reviewed unknown Array 40 9528 0.00419815 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - JHDM1D Arg644Ser R644S not reviewed Insufficiently evaluated not reviewed unknown Array rs6950119 3405 9600 0.354688 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - JMJD1C Glu2298Asp E2298D not reviewed Insufficiently evaluated not reviewed unknown Array rs1935 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JMJD1C Glu2535Asp E2535D not reviewed Insufficiently evaluated not reviewed unknown Array rs1935 4149 9640 0.430394 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 1 N - - JMJD1C Glu2294Lys E2294K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - JMJD1C Glu2531Lys E2531K not reviewed Insufficiently evaluated not reviewed unknown Array 67 9612 0.00697045 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - JMJD1C Pro1743Leu P1743L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - JMJD1C Pro1980Leu P1980L not reviewed Insufficiently evaluated not reviewed unknown Array rs41274064 259 9760 0.0265369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - JMJD1C Thr297Ser T297S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JMJD1C Thr516Ser T516S not reviewed Insufficiently evaluated not reviewed unknown Array rs41274074 199 9542 0.0208552 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JMJD1C Ser245Thr S245T not reviewed Insufficiently evaluated not reviewed unknown Array rs10761725 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JMJD1C Ser464Thr S464T not reviewed Insufficiently evaluated not reviewed unknown Array rs10761725 6354 9616 0.660774 40 0 57 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - JMJD1C Ala272Thr A272T not reviewed Insufficiently evaluated not reviewed unknown Array rs34798625 136 9734 0.0139716 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JMJD1C Ala53Thr A53T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JMJD4 Ala461Val A461V not reviewed Insufficiently evaluated not reviewed unknown Array rs3087908 1917 10758 0.178193 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - JMJD4 Phe342Leu F342L not reviewed Insufficiently evaluated not reviewed unknown Array rs41270159 309 10758 0.0287228 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.439 - - 0 - 1 N - - JMJD4 Asp65Glu D65E not reviewed Insufficiently evaluated not reviewed unknown Array rs2295994 3820 10068 0.37942 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - JMJD4 Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array rs7419238 10025 10026 0.9999 29 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - JMJD7 Val115Met V115M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD7-PLA2G4B Val115Met V115M not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD7-PLA2G4B Arg422Cys R422C not reviewed Insufficiently evaluated not reviewed unknown Array rs3816533 1190 10758 0.110615 14 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - JMJD8 Asp152Ala D152A not reviewed Insufficiently evaluated not reviewed unknown Array rs74002825 247 9746 0.0253437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - JMY Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array 953 3220 0.295963 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - JMY Met364Leu M364L not reviewed Insufficiently evaluated not reviewed unknown Array rs13182512 5395 9798 0.550623 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - JMY His720Arg H720R not reviewed Insufficiently evaluated not reviewed unknown Array 561 10172 0.0551514 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - JPH1 Ser56Asn S56N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 0 - 2 N - - JPH1 Ser56Cys S56C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - JPH2 Phe691Ser F691S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - JPH2 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array rs3810510 2150 10758 0.199851 25 0 33 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - JPH2 Trp80Stop W80X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - JPH2 Thr76Ala T76A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.448 - - 1 - 2 - 1 - - JRK Ser543Arg S543R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - JRK Gln470Arg Q470R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JRK Val462Leu V462L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JRK Asn360Ser N360S not reviewed Insufficiently evaluated not reviewed unknown Array rs73379623 117 10250 0.0114146 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JRK Thr30Met T30M not reviewed Insufficiently evaluated not reviewed unknown Array 388 10420 0.0372361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - JSRP1 Arg233Gln R233Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35356610 104 10744 0.00967982 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JSRP1 Gly150Ala G150A not reviewed Insufficiently evaluated not reviewed unknown Array rs80043033 1555 10704 0.145273 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 0 N - - JSRP1 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array 89 7660 0.0116188 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - JSRP1 Val92Ala V92A not reviewed Insufficiently evaluated not reviewed unknown Array rs10426549 550 5744 0.0957521 15 0 22 0 0 - - - - - - - - - - - - - - - - 0.6 - - 2 - 0 N - - JSRP1 Gly45Ser G45S not reviewed Insufficiently evaluated not reviewed unknown Array rs35121757 594 10754 0.0552353 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - JSRP1 Ala20Gly A20G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - 1 - 1 N - - JSRP1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs7250822 1687 10734 0.157164 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - JTB Leu16Phe L16F not reviewed Insufficiently evaluated not reviewed unknown Array rs34686244 283 10758 0.026306 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 3 - 10 - - JUB Met108Arg M108R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - JUB Met525Arg M525R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - JUND Gly20Val G20V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - JUP Met697Leu M697L not reviewed Insufficiently evaluated not reviewed unknown Array rs1126821 7519 10758 0.698922 48 0 65 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - KAL1 Val534Ile V534I not reviewed Insufficiently evaluated not reviewed unknown Array rs808119 4922 8761 0.561808 36 0 59 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - KALRN His1389Asn H1389N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KALRN Pro1695Gln P1695Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10250 0.00468293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KALRN Gly2306Arg G2306R not reviewed Insufficiently evaluated not reviewed unknown Array rs35653635 211 10758 0.0196133 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KALRN Gly609Arg G609R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KANK1 Arg67Gln R67Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7860464 1909 10758 0.177449 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - KANK1 Pro69Leu P69L not reviewed Insufficiently evaluated not reviewed unknown Array rs61737969 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KANK1 His210Gln H210Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28374506 1152 10758 0.107083 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - KANK1 His52Gln H52Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KANK1 Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - KANK1 Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KANK1 Glu274Gln E274Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KANK1 Glu432Gln E432Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4465020 3069 10758 0.285276 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - KANK1 Ser306Ala S306A not reviewed Insufficiently evaluated not reviewed unknown Array rs912174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KANK1 Ser464Ala S464A not reviewed Insufficiently evaluated not reviewed unknown Array rs912174 2509 10758 0.233222 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KANK1 Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - KANK1 Arg667His R667H not reviewed Insufficiently evaluated not reviewed unknown Array rs3824420 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - KANK1 Asn743Ser N743S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KANK1 Asn901Ser N901S not reviewed Insufficiently evaluated not reviewed unknown Array rs12352313 1295 10758 0.120376 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KANK1 Asn826Thr N826T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KANK1 Asn984Thr N984T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KANK1 Ile1055Thr I1055T not reviewed Insufficiently evaluated not reviewed unknown Array rs34832656 1916 10758 0.1781 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KANK1 Ile897Thr I897T not reviewed Insufficiently evaluated not reviewed unknown Array rs34832656 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KANK1 Ser1127Ile S1127I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 5 Y 2 N - - KANK1 Ser969Ile S969I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KANK2 Gly772Ser G772S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - KANK2 Met401Thr M401T not reviewed Insufficiently evaluated not reviewed unknown Array rs17616661 832 10758 0.0773378 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KANK2 Gln201Lys Q201K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10312 0.00203646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - -2 - 2 N - - KANK2 Gly118Ser G118S not reviewed Insufficiently evaluated not reviewed unknown Array rs755237 788 10732 0.0734253 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KANK3 Asp792Asn D792N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KANK3 Glu610Lys E610K not reviewed Insufficiently evaluated not reviewed unknown Array rs7249069 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - KANK3 Ala598Thr A598T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - KANK3 Ala485Thr A485T not reviewed Insufficiently evaluated not reviewed unknown Array rs2913955 1563 9986 0.156519 9 0 14 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - KANK3 Arg359His R359H not reviewed Insufficiently evaluated not reviewed unknown Array rs890853 808 5932 0.13621 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 0 N - - KANK3 Asp288Tyr D288Y not reviewed Insufficiently evaluated not reviewed unknown Array rs890850 953 7102 0.134188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 0 N - - KANK4 Val935Leu V935L not reviewed Insufficiently evaluated not reviewed unknown Array rs2941679 10444 10758 0.970812 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KANK4 Val840Ala V840A not reviewed Insufficiently evaluated not reviewed unknown Array rs2666472 7212 10756 0.670509 48 0 75 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - KANK4 His822Arg H822R not reviewed Insufficiently evaluated not reviewed unknown Array rs2258470 7217 10758 0.67085 50 0 78 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KANK4 Thr768Ala T768A not reviewed Insufficiently evaluated not reviewed unknown Array rs11207949 2566 10758 0.23852 21 0 28 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - KANK4 Gly701Ser G701S not reviewed Insufficiently evaluated not reviewed unknown Array rs17123306 971 10758 0.0902584 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 0 N - - KANK4 Pro286Leu P286L not reviewed Insufficiently evaluated not reviewed unknown Array rs72925715 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - KARS Thr595Ser T595S not reviewed Insufficiently evaluated not reviewed unknown Array rs6834 19 128 0.148438 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - KARS Thr623Ser T623S not reviewed Insufficiently evaluated not reviewed unknown Array rs6834 1517 10758 0.141011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KARS Phe239Leu F239L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - KARS Phe267Leu F267L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KAT Gly101Glu G101E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - KAT2A Gly474Glu G474E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 2 N - - KAT2A Glu432Lys E432K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KAT2B Asn386Ser N386S not reviewed Insufficiently evaluated not reviewed unknown Array rs17006625 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KAT5 Glu3Lys E3K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.74 - - 0 - 2 - 5 - - KATNA1 Thr343Ala T343A not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KATNAL1 Ala431Val A431V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KATNAL2 Ser88Asn S88N not reviewed Insufficiently evaluated not reviewed unknown Array rs7233515 4105 10758 0.381577 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KATNB1 Met181Val M181V not reviewed Insufficiently evaluated not reviewed unknown Array rs60158050 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 1 - 2 - - KATNB1 Val316Met V316M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729342 370 10530 0.0351377 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - KAZALD1 Cys76Gly C76G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10254 0.000292568 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 5 - - KAZALD1 Gly236Asp G236D not reviewed Insufficiently evaluated not reviewed unknown Array rs11190812 331 10758 0.0307678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 3 - 8 - - KAZALD1 Gly255Ala G255A not reviewed Insufficiently evaluated not reviewed unknown Array rs807037 7007 10758 0.651329 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KBTBD10 Ala271Thr A271T not reviewed Insufficiently evaluated not reviewed unknown Array rs28763868 985 10758 0.0915598 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KBTBD3 Ser436Cys S436C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KBTBD3 Asp33Gly D33G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KBTBD5 Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array rs6805421 6022 10758 0.559769 37 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KBTBD5 Cys617Arg C617R not reviewed Insufficiently evaluated not reviewed unknown Array rs123509 8655 10758 0.804518 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KBTBD7 Asn490Thr N490T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 1 - 2 N - - KBTBD8 Cys420Arg C420R not reviewed Insufficiently evaluated not reviewed unknown Array rs13096789 1163 10758 0.108106 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - KCNA10 Asn501Ser N501S not reviewed Insufficiently evaluated not reviewed unknown Array rs56171965 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - KCNA10 Asn254Ser N254S not reviewed Insufficiently evaluated not reviewed unknown Array rs11806812 286 10758 0.0265849 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNA10 Val220Met V220M not reviewed Insufficiently evaluated not reviewed unknown Array rs34970857 636 10758 0.0591188 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 1 - 4 - - KCNA3 Arg516Stop R516X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KCNA3 Asp2Glu D2E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNA5 Arg212Cys R212C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.917 - - 8 Y 2 N - - KCNA5 Gly384Arg G384R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 6 Y 0 N - - KCNA7 Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - KCNA7 Met418Thr M418T not reviewed Insufficiently evaluated not reviewed unknown Array rs1017219 4177 10758 0.388269 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KCNA7 Pro189Arg P189R not reviewed Insufficiently evaluated not reviewed unknown Array rs1611775 4170 10758 0.387619 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KCNA7 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 1298 9950 0.130452 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KCNAB1 Gly30Arg G30R not reviewed Insufficiently evaluated not reviewed unknown Array rs67167156 205 10758 0.0190556 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - KCNAB2 Asn319Thr N319T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNAB2 Asn333Thr N333T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - KCNB1 Pro613Ser P613S not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNB2 Leu768Trp L768W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.354 - - 5 Y 1 N - - KCNB2 Thr771Pro T771P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KCNC1 Asn226Ile N226I not reviewed Insufficiently evaluated not reviewed unknown Array rs73424032 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNC3 Asp63Gly D63G not reviewed Insufficiently evaluated not reviewed unknown Array 34 50 0.68 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - KCNC4 Arg516Gln R516Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59123361 884 10758 0.0821714 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - KCNC4 Cys520Tyr C520Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12411176 522 10758 0.048522 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNC4 Ser577Pro S577P not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - KCNE1 Ser38Gly S38G not reviewed Insufficiently evaluated not reviewed unknown Array rs17846179 7074 10758 0.657557 50 0 76 0 0 3 Y - - - - - - - - - - Y - - - 0.003 Y Y 2 - 3 - 10 - - KCNE1L Pro33Ser P33S not reviewed Insufficiently evaluated not reviewed unknown Array 808 8605 0.0938989 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 1 N - - KCNE2 Gln9Glu Q9E pharmacogenetic Insufficiently evaluated pharmacogenetic other Array 59 10758 0.00548429 0 0 0 3 3 1 Y 1 - 0 Y 0 Y 4 Y 2 Y Y Y - - 0.302 Y Y -2 - Long QT Syndrome 6 1 19 9 1315 7.690 5 N 10 - - This variant is associated with Long QT Syndrome with exposure to clarithromycn and was also found in a screen for variants related to Sudden Infant Death Syndrome. Case/control data for both is not enough to make these observations statistically significant. KCNE4 Val89Met V89M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNE4 Asp145Glu D145E not reviewed Insufficiently evaluated not reviewed unknown Array rs12621643 6868 10756 0.638527 44 0 65 0 0 - - - - - - - - - - - - - - Y - - - - -2 - 1 N - - KCNG4 Gly325Arg G325R not reviewed Insufficiently evaluated not reviewed unknown Array rs7196482 32 124 0.258065 24 0 26 0 0 - - - - - - - - - - - - - - - - 0.826 - - 6 Y 0 N - - KCNG4 Cys255Tyr C255Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17736370 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - KCNG4 Arg206Trp R206W not reviewed Insufficiently evaluated not reviewed unknown Array rs11646443 38 126 0.301587 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KCNG4 Ala148Thr A148T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743417 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNG4 Pro117Ser P117S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803641 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.876 - - 3 - 2 N - - KCNH1 Ala751Thr A751T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNH1 Ala778Thr A778T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNH2 Arg28Gly R28G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - KCNH2 Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - KCNH3 Pro856Arg P856R not reviewed Insufficiently evaluated not reviewed unknown Array 586 10758 0.0544711 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 5 Y 0 N - - KCNH3 Arg965Cys R965C not reviewed Insufficiently evaluated not reviewed unknown Array rs59261129 969 10758 0.0900725 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 1 N - - KCNH5 Ala745Thr A745T not reviewed Insufficiently evaluated not reviewed unknown Array rs4902176 3172 10758 0.29485 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNH6 Thr836Met T836M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNH6 Thr925Met T925M not reviewed Insufficiently evaluated not reviewed unknown Array rs35819807 2326 10758 0.216211 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KCNH7 Gly958Ala G958A not reviewed Insufficiently evaluated not reviewed unknown Array rs6757850 767 10756 0.071309 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNH8 Arg495Cys R495C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KCNH8 Gly719Glu G719E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNH8 Gln893Arg Q893R not reviewed Insufficiently evaluated not reviewed unknown Array rs33915638 996 10758 0.0925823 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - KCNH8 Gly974Arg G974R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - KCNH8 Glu984Gln E984Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35160416 191 10758 0.0177542 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 1 - 3 - - KCNIP2 Leu119Phe L119F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNIP2 Leu124Phe L124F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNIP2 Leu126Phe L126F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNIP2 Leu151Phe L151F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KCNIP2 Leu169Phe L169F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 1 N - - KCNIP2 Leu184Phe L184F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNIP3 Arg39His R39H not reviewed Insufficiently evaluated not reviewed unknown Array rs35516857 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 2 - 1 - - KCNJ10 Ile376Thr I376T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - KCNJ11 Val337Ile V337I not reviewed Insufficiently evaluated not reviewed unknown Array rs5215 7879 10758 0.732385 46 0 76 0 0 1 Y - - - - - - - - - - Y - Y - - Y Y -4 - 4 N 3 - - KCNJ11 Arg301Leu R301L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - KCNJ11 Leu270Val L270V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800467 362 10758 0.0336494 4 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - KCNJ11 Lys23Glu K23E protective Low clinical importance, Likely protective unknown Array rs5219 7941 10758 0.738148 46 0 78 3 3 1 Y - - 5 Y 0 - 3 - 4 - Y - Y Y - Y Y 0 - 4 N 6 0 1 This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant. KCNJ12 Ser15Leu S15L not reviewed Insufficiently evaluated not reviewed unknown Array rs1657738 22 44 0.5 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - KCNJ12 Val36Leu V36L not reviewed Insufficiently evaluated not reviewed unknown Array 649 10758 0.0603272 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KCNJ12 Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3752033 2281 10758 0.212028 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - KCNJ12 Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752034 2649 10758 0.246235 13 0 12 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - KCNJ12 Arg43His R43H not reviewed Insufficiently evaluated not reviewed unknown Array 2 44 0.0454545 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - KCNJ12 Glu56Ala E56A not reviewed Insufficiently evaluated not reviewed unknown Array rs1714865 3671 10758 0.341234 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - KCNJ12 Met71Ile M71I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KCNJ12 Ile100Val I100V not reviewed Insufficiently evaluated not reviewed unknown Array rs8076599 40 80 0.5 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KCNJ12 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - KCNJ12 Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array 4291 10752 0.399089 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - KCNJ12 Thr142Asn T142N not reviewed Insufficiently evaluated not reviewed unknown Array 2286 10752 0.212612 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.722 - - 1 - 0 N - - KCNJ12 Gly145Ser G145S not reviewed Insufficiently evaluated not reviewed unknown Array rs75029097 4571 10752 0.42513 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - KCNJ12 Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array rs1714864 43 88 0.488636 37 0 37 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - KCNJ12 Asp173Asn D173N not reviewed Insufficiently evaluated not reviewed unknown Array rs73313922 25 50 0.5 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.577 - - -1 - 0 N - - KCNJ12 Ala185Val A185V not reviewed Insufficiently evaluated not reviewed unknown Array rs73979896 12 36 0.333333 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - KCNJ12 Gln192His Q192H not reviewed Insufficiently evaluated not reviewed unknown Array rs1657742 31 64 0.484375 24 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KCNJ12 Leu211Phe L211F not reviewed Insufficiently evaluated not reviewed unknown Array rs72846667 3940 10758 0.366239 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.109 - - 0 - 0 N - - KCNJ12 Glu239Lys E239K not reviewed Insufficiently evaluated not reviewed unknown Array 2218 10758 0.206172 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KCNJ12 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array rs4985866 2661 10758 0.247351 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KCNJ12 Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array 310 10758 0.0288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.837 - - 1 - 1 N - - KCNJ12 Glu289Gln E289Q not reviewed Insufficiently evaluated not reviewed unknown Array rs78113532 171 10758 0.0158951 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - KCNJ12 Thr290Met T290M not reviewed Insufficiently evaluated not reviewed unknown Array rs77987694 462 10758 0.0429448 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - KCNJ12 Val297Ile V297I not reviewed Insufficiently evaluated not reviewed unknown Array rs80335301 473 10758 0.0439673 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.427 - - -4 - 1 N - - KCNJ12 Met302Ile M302I not reviewed Insufficiently evaluated not reviewed unknown Array rs74801394 414 10754 0.0384973 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - KCNJ12 Ser343Leu S343L not reviewed Insufficiently evaluated not reviewed unknown Array 2711 10758 0.251999 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.041 - - 6 Y 0 N - - KCNJ12 Ser371Arg S371R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - KCNJ12 Glu378Lys E378K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 1 N - - KCNJ12 Asp402Glu D402E not reviewed Insufficiently evaluated not reviewed unknown Array rs2917720 25 66 0.378788 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - KCNJ12 Ser405Ile S405I not reviewed Insufficiently evaluated not reviewed unknown Array rs73979902 33 82 0.402439 28 0 28 0 0 - - - - - - - - - - - - - - - - 0.101 - - 5 Y 0 N - - KCNJ12 Glu430Gly E430G not reviewed Insufficiently evaluated not reviewed unknown Array rs5021699 39 78 0.5 29 0 29 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - KCNJ13 Thr175Ile T175I not reviewed Insufficiently evaluated not reviewed unknown Array rs1801251 3437 10758 0.319483 31 0 36 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KCNJ14 Cys90Phe C90F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - KCNJ14 Arg289Cys R289C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 3 - 4 - - KCNJ14 Ala431Val A431V not reviewed Insufficiently evaluated not reviewed unknown Array rs73050908 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNJ15 Arg28His R28H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KCNJ15 Gly98Asp G98D not reviewed Insufficiently evaluated not reviewed unknown Array rs2230033 4338 10758 0.403235 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - KCNJ16 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array rs9302912 870 10758 0.08087 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KCNJ5 Gln282Glu Q282E not reviewed Insufficiently evaluated not reviewed unknown Array rs7102584 10620 10758 0.987172 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KCNJ9 Gly135Cys G135C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - KCNJ9 Ala366Val A366V not reviewed Insufficiently evaluated not reviewed unknown Array rs3001040 1597 8862 0.180208 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 6 - - KCNK10 Ala512Thr A512T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KCNK10 Ala517Thr A517T not reviewed Insufficiently evaluated not reviewed unknown Array rs17762463 2179 10758 0.202547 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNK13 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7157583 818 10072 0.0812152 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - KCNK13 Leu132Phe L132F not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - KCNK13 Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array rs34270669 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KCNK13 Gly305Arg G305R not reviewed Insufficiently evaluated not reviewed unknown Array rs3814848 1419 10758 0.131902 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KCNK15 Cys145Arg C145R not reviewed Insufficiently evaluated not reviewed unknown Array 253 10740 0.0235568 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - KCNK15 Thr260Pro T260P not reviewed Insufficiently evaluated not reviewed unknown Array rs6073538 5783 10714 0.539761 10 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KCNK15 Pro261His P261H not reviewed Insufficiently evaluated not reviewed unknown Array rs13037900 5 40 0.125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.429 - - 5 Y 1 - 1 - - KCNK15 Leu323Pro L323P not reviewed Insufficiently evaluated not reviewed unknown Array rs13042905 5076 8478 0.598726 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KCNK16 Pro254His P254H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KCNK16 Pro301His P301H not reviewed Insufficiently evaluated not reviewed unknown Array rs11756091 71 128 0.554688 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KCNK16 Ala277Glu A277E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNK17 Ser21Gly S21G not reviewed Insufficiently evaluated not reviewed unknown Array rs10947804 5813 8756 0.663888 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KCNK18 Arg10Gly R10G not reviewed Insufficiently evaluated not reviewed unknown Array rs67346047 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 1 N - - KCNK18 Ser231Pro S231P not reviewed Insufficiently evaluated not reviewed unknown Array rs363315 11 128 0.0859375 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - KCNK18 Ala233Val A233V not reviewed Insufficiently evaluated not reviewed unknown Array rs363360 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - KCNK2 Glu101Lys E101K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - KCNK2 Glu112Lys E112K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNK2 Glu116Lys E116K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KCNK4 Pro328Leu P328L not reviewed Insufficiently evaluated not reviewed unknown Array rs953778 1701 10594 0.160563 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.493 - - 7 Y 0 N - - KCNK5 Pro465Thr P465T not reviewed Insufficiently evaluated not reviewed unknown Array rs9462487 197 10754 0.0183188 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - KCNK5 Ser247Arg S247R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 0 N - - KCNK6 Val259Met V259M not reviewed Insufficiently evaluated not reviewed unknown Array rs34989303 1322 10758 0.122885 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - KCNK7 Gly223Ser G223S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - KCNK7 Lys119Arg K119R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10696 0.00467464 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.945 - - -3 - 2 N - - KCNMB1 Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNMB1 Val110Leu V110L not reviewed Insufficiently evaluated not reviewed unknown Array rs2301149 981 10758 0.091188 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KCNMB3 Ser111Thr S111T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNMB3 Ser129Thr S129T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNMB3 Ser131Thr S131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNMB3 Ser133Thr S133T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNMB3 Gln105Arg Q105R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNMB3 Gln123Arg Q123R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNMB3 Gln125Arg Q125R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNMB3 Gln127Arg Q127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 0 - 1 N - - KCNMB3 Pro102Ser P102S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNMB3 Pro120Ser P120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNMB3 Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNMB3 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.3 - - 3 - 1 N - - KCNMB3 Gln116His Q116H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNMB3 Gln118His Q118H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNMB3 Gln120His Q120H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - KCNMB3 Gln98His Q98H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNMB3 Leu53Val L53V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - KCNMB3 Leu71Val L71V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 3 - 7 - - KCNMB3 Leu73Val L73V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - KCNMB3 Leu75Val L75V not reviewed Insufficiently evaluated not reviewed unknown Array rs2276802 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 5 - - KCNMB3 Ala31Thr A31T not reviewed Insufficiently evaluated not reviewed unknown Array rs7645550 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNMB3 Ala49Thr A49T not reviewed Insufficiently evaluated not reviewed unknown Array rs7645550 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNMB3 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array rs7645550 4132 10758 0.384086 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNMB3 Ala53Thr A53T not reviewed Insufficiently evaluated not reviewed unknown Array rs7645550 41 128 0.320312 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.638 - - 1 - 0 N - - KCNN2 Gln186His Q186H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNN2 Gln534His Q534H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNN4 His340Asn H340N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KCNQ1 Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.153 Y Y 0 - 3 - 10 - - KCNQ1 Val80Met V80M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KCNQ1 Pro281Ala P281A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - KCNQ1 Pro408Ala P408A not reviewed Insufficiently evaluated not reviewed unknown Array rs28730756 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.486 Y Y 2 - 4 - 6 - - KCNQ1 Pro321Arg P321R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - KCNQ1 Pro448Arg P448R not reviewed Insufficiently evaluated not reviewed unknown Array rs12720449 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 5 Y 3 - 10 - - KCNQ2 Asn749Thr N749T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KCNQ2 Asn752Thr N752T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KCNQ2 Asn762Thr N762T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KCNQ2 Asn780Thr N780T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801475 6383 10688 0.597212 33 0 44 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - KCNQ3 Glu414Gly E414G not reviewed Insufficiently evaluated not reviewed unknown Array rs2303995 165 10758 0.0153374 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.177 Y - 6 Y 1 N - - KCNQ3 Thr81Asn T81N not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - KCNQ4 His401Gln H401Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - KCNQ4 His455Gln H455Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34287852 1872 10750 0.17414 8 0 11 0 0 - - - - - - - - - - - - Y - - - 0.191 Y Y -1 - 3 - 1 - - KCNQ5 Pro630Leu P630L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNQ5 Pro731Leu P731L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNQ5 Pro740Leu P740L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743058 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNQ5 Pro750Leu P750L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNQ5 Pro759Leu P759L not reviewed Insufficiently evaluated not reviewed unknown Array 447 10758 0.0415505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNS1 Ile489Val I489V not reviewed Insufficiently evaluated not reviewed unknown Array rs734784 5247 10758 0.48773 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KCNS3 Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35020605 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNS3 Thr450Ala T450A not reviewed Insufficiently evaluated not reviewed unknown Array rs4832524 7191 10758 0.668433 54 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNT1 Thr1250Ala T1250A not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNU1 Trp768Arg W768R not reviewed Insufficiently evaluated not reviewed unknown Array rs28608091 3583 9538 0.375655 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KCNU1 Asn916Ser N916S not reviewed Insufficiently evaluated not reviewed unknown Array rs16885577 1887 9914 0.190337 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 1 N - - KCNV2 Val226Ile V226I not reviewed Insufficiently evaluated not reviewed unknown Array 84 10484 0.00801221 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KCNV2 Leu533Val L533V not reviewed Insufficiently evaluated not reviewed unknown Array rs12352254 1694 10758 0.157464 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KCP Pro1128Arg P1128R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - KCP Cys837Ser C837S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCP Val783Ile V783I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCP Asp623Val D623V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCP Asp684Val D684V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCP Lys397Glu K397E not reviewed Insufficiently evaluated not reviewed unknown Array rs7782976 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCP Lys455Glu K455E not reviewed Insufficiently evaluated not reviewed unknown Array rs7782976 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCP Pro211Thr P211T not reviewed Insufficiently evaluated not reviewed unknown Array rs56144153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KCP Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCTD11 Gly22Ser G22S not reviewed Insufficiently evaluated not reviewed unknown Array rs8080182 198 10756 0.0184083 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 4 - - KCTD11 Val94Ile V94I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - -4 - 0 N - - KCTD14 Arg81His R81H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCTD14 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 702 9968 0.0704254 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KCTD17 Ala26Thr A26T not reviewed Insufficiently evaluated not reviewed unknown Array 358 5172 0.0692189 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCTD18 Arg412Cys R412C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - KCTD18 Cys390Ser C390S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795969 3626 10758 0.337052 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KCTD18 Ala333Val A333V not reviewed Insufficiently evaluated not reviewed unknown Array rs13018579 1852 10758 0.172151 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KCTD19 Glu750Lys E750K not reviewed Insufficiently evaluated not reviewed unknown Array rs16957289 923 9754 0.0946278 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - KCTD19 Ser732Asn S732N not reviewed Insufficiently evaluated not reviewed unknown Array rs73592842 55 10108 0.00544123 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCTD19 Gln649Stop Q649X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KCTD20 Ser171Thr S171T not reviewed Insufficiently evaluated not reviewed unknown Array rs2239808 2889 10758 0.268544 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 1 N - - KCTD20 Gly382Arg G382R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 0 N - - KCTD3 Phe9Val F9V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275768 1230 7698 0.159782 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - KDELC1 Ile114Val I114V not reviewed Insufficiently evaluated not reviewed unknown Array rs1047740 3949 10758 0.367076 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KDELC2 Leu294Phe L294F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - KDELR3 Val199Gly V199G not reviewed Insufficiently evaluated not reviewed unknown Array rs12004 2879 10758 0.267615 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 0 N - - KDM2A Glu871Lys E871K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 0 - 0 N - - KDM3A Ile212Val I212V not reviewed Insufficiently evaluated not reviewed unknown Array rs2030259 8625 10758 0.801729 54 0 86 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KDM3A Ser447Pro S447P not reviewed Insufficiently evaluated not reviewed unknown Array rs34605051 1603 10758 0.149005 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KDM3A Val1131Ile V1131I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - KDM3B Met252Thr M252T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - 2 - 0 N - - KDM3B Ala256Thr A256T not reviewed Insufficiently evaluated not reviewed unknown Array rs6865472 10560 10758 0.981595 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KDM3B Ser1201Asn S1201N not reviewed Insufficiently evaluated not reviewed unknown Array rs7706614 459 10758 0.0426659 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM4A Met374Val M374V not reviewed Insufficiently evaluated not reviewed unknown Array rs74070653 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KDM4A Ala482Glu A482E not reviewed Insufficiently evaluated not reviewed unknown Array rs586339 8567 10758 0.796338 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KDM4B Lys710Glu K710E not reviewed Insufficiently evaluated not reviewed unknown Array rs2620836 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KDM4B Ala886Thr A886T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - KDM4C Asp393Tyr D393Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KDM4C Asp415Tyr D415Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KDM4C Asp396Asn D396N not reviewed Insufficiently evaluated not reviewed unknown Array rs2296067 2329 10758 0.21649 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - KDM4C Asp418Asn D418N not reviewed Insufficiently evaluated not reviewed unknown Array rs2296067 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KDM4C Ser492Thr S492T not reviewed Insufficiently evaluated not reviewed unknown Array rs35826653 999 10758 0.0928611 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - KDM4C Ser514Thr S514T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KDM4C Asn697Ser N697S not reviewed Insufficiently evaluated not reviewed unknown Array rs35389625 324 10758 0.0301171 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.118 - - 0 - 0 N - - KDM4C Asn719Ser N719S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM4C Gln767Glu Q767E not reviewed Insufficiently evaluated not reviewed unknown Array rs1407856 1411 10758 0.131158 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - KDM4C Gln789Glu Q789E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KDM4C Lys772Arg K772R not reviewed Insufficiently evaluated not reviewed unknown Array rs1417290 574 10758 0.0533556 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.474 - - -3 - 0 N - - KDM4C Lys794Arg K794R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KDM4C Ser1037Asn S1037N not reviewed Insufficiently evaluated not reviewed unknown Array rs7022348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM4C Val1039Ile V1039I not reviewed Insufficiently evaluated not reviewed unknown Array rs913588 4808 10758 0.446923 42 0 48 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - KDM4D Arg408Gln R408Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3740853 1995 10758 0.185443 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - KDM5A Met865Thr M865T not reviewed Insufficiently evaluated not reviewed unknown Array rs11062385 2613 9660 0.270497 32 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KDM5A His808Leu H808L not reviewed Insufficiently evaluated not reviewed unknown Array 193 9550 0.0202094 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KDM6A Leu409Ile L409I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KDM6A Thr726Lys T726K not reviewed Insufficiently evaluated not reviewed unknown Array rs2230018 797 8761 0.0909714 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KDM6B Gly138Ala G138A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - KDM6B Pro203Ala P203A not reviewed Insufficiently evaluated not reviewed unknown Array rs60738318 1033 10756 0.0960394 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 0 N - - KDM6B Glu221Asp E221D not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - KDM6B Pro247Leu P247L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - KDM6B Ser308Leu S308L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10744 0.00335071 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - KDM6B Ser444Gly S444G not reviewed Insufficiently evaluated not reviewed unknown Array 781 10758 0.0725971 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KDM6B Pro482Ser P482S not reviewed Insufficiently evaluated not reviewed unknown Array 705 6640 0.106175 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KDM6B Pro511His P511H not reviewed Insufficiently evaluated not reviewed unknown Array 44 7276 0.00604728 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 5 Y 2 N - - KDM6B Thr759Ile T759I not reviewed Insufficiently evaluated not reviewed unknown Array 112 10714 0.0104536 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - KDM6B Glu961Lys E961K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM6B Lys973Gln K973Q not reviewed Insufficiently evaluated not reviewed unknown Array 98 10568 0.00927328 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KDR Val952Ile V952I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 1 - 6 - - KDR Gln472His Q472H not reviewed Insufficiently evaluated not reviewed unknown Array rs1870377 2075 10758 0.19288 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KDR Val297Ile V297I not reviewed Insufficiently evaluated not reviewed unknown Array rs2305948 1570 10758 0.145938 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 1 N - - KDR Asp225Gly D225G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 4 Y 3 - 1 - - KDR Asp225Tyr D225Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 3 - 2 - - KDR Tyr224Cys Y224C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KDR Tyr224Asp Y224D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KDR Thr17Pro T17P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 4 Y 1 N - - KEL Thr193Met T193M benign Low clinical importance, Uncertain benign dominant Array rs8176058 345 10758 0.0320692 5 0 5 1 1 - - 1 Y 5 Y 5 Y 0 - 2 Y - Y - - 0.999 - - 2 - 4 N 9 0 0 This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1. KERA Ser118Asn S118N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - KHDRBS2 Glu182Lys E182K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - KHK Val49Ile V49I not reviewed Insufficiently evaluated not reviewed unknown Array rs2304681 3817 10758 0.354806 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.037 - - -4 - 0 N - - KHK Val94Ala V94A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.096 - - 2 - 1 - 5 - - KIAA0020 Ser492Cys S492C not reviewed Insufficiently evaluated not reviewed unknown Array rs60717199 234 10758 0.0217513 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 3 - 1 N - - KIAA0020 Thr414Ser T414S not reviewed Insufficiently evaluated not reviewed unknown Array rs3736390 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 3 - 3 - - KIAA0020 Val297Leu V297L not reviewed Insufficiently evaluated not reviewed unknown Array rs2270891 456 10754 0.0424028 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0020 Arg289Pro R289P not reviewed Insufficiently evaluated not reviewed unknown Array rs2173904 6222 10752 0.578683 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIAA0020 Tyr257Asn Y257N not reviewed Insufficiently evaluated not reviewed unknown Array rs73377856 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - KIAA0020 Ser13Asn S13N not reviewed Insufficiently evaluated not reviewed unknown Array rs10968457 352 9594 0.0366896 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0090 Asp388Gly D388G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 4 Y 2 N - - KIAA0090 Ser347Asn S347N not reviewed Insufficiently evaluated not reviewed unknown Array rs709682 2043 10758 0.189905 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KIAA0090 Ser345Thr S345T not reviewed Insufficiently evaluated not reviewed unknown Array rs709683 5029 10758 0.467466 42 0 59 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - KIAA0100 Val1516Gly V1516G not reviewed Insufficiently evaluated not reviewed unknown Array rs12602520 1092 10758 0.101506 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - KIAA0100 His986Gln H986Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16964472 195 10758 0.018126 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0100 Gly435Glu G435E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - KIAA0141 Phe128Leu F128L not reviewed Insufficiently evaluated not reviewed unknown Array rs10036567 1822 10758 0.169362 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0141 Ala247Thr A247T not reviewed Insufficiently evaluated not reviewed unknown Array rs351260 2679 10758 0.249024 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIAA0141 Arg468Cys R468C not reviewed Insufficiently evaluated not reviewed unknown Array rs10056676 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - KIAA0146 Gly4Asp G4D not reviewed Insufficiently evaluated not reviewed unknown Array rs73582839 84 2846 0.0295151 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - 4 Y 2 N - - KIAA0174 Lys306Gln K306Q not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0195 Asp540Asn D540N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - KIAA0226 Asn808Ser N808S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0226 Asn853Ser N853S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742251 77 10170 0.00757129 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - KIAA0226 Thr664Met T664M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0226 Thr709Met T709M not reviewed Insufficiently evaluated not reviewed unknown Array rs35071969 136 9952 0.0136656 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 2 N - - KIAA0226 Glu287Lys E287K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0226 Glu347Lys E347K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746429 338 10216 0.0330854 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KIAA0232 Ser16Arg S16R not reviewed Insufficiently evaluated not reviewed unknown Array 15 9866 0.00152037 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0232 Thr545Ala T545A not reviewed Insufficiently evaluated not reviewed unknown Array 11 9942 0.00110642 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0284 Ser1191Phe S1191F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0284 Ser1261Phe S1261F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - KIAA0317 Ala545Thr A545T not reviewed Insufficiently evaluated not reviewed unknown Array 44 9772 0.00450266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0319 Tyr1013Cys Y1013C not reviewed Insufficiently evaluated not reviewed unknown Array rs807534 1300 10758 0.12084 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 1 N - - KIAA0319 Gly567Ser G567S not reviewed Insufficiently evaluated not reviewed unknown Array rs2744559 971 10758 0.0902584 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0319 Ile520Lys I520K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.468 - - 6 Y 1 N - - KIAA0319 Tyr368His Y368H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - KIAA0319 Ala311Thr A311T not reviewed Insufficiently evaluated not reviewed unknown Array rs4504469 3182 10758 0.29578 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA0319 Thr306Ala T306A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - KIAA0319 Ser157Ala S157A not reviewed Insufficiently evaluated not reviewed unknown Array rs73727343 267 10758 0.0248187 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 1 - 1 - - KIAA0319 Thr142Pro T142P not reviewed Insufficiently evaluated not reviewed unknown Array rs4576240 9719 10758 0.903421 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KIAA0319 Ser127Leu S127L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 6 Y 2 - 1 - - KIAA0323 Leu235Pro L235P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0323 Lys261Thr K261T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0323 Trp270Leu W270L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0355 Asn357Thr N357T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0355 Ala996Thr A996T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0368 Asn876Ser N876S not reviewed Insufficiently evaluated not reviewed unknown Array rs2418163 4345 9556 0.454688 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0391 Asn437Ser N437S not reviewed Insufficiently evaluated not reviewed unknown Array rs11156878 1413 10758 0.131344 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0406 Ile415Leu I415L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0408 Ser331Leu S331L not reviewed Insufficiently evaluated not reviewed unknown Array rs2236026 656 10758 0.0609779 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA0408 Ser61Arg S61R not reviewed Insufficiently evaluated not reviewed unknown Array rs3734447 6357 10756 0.591019 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA0427 Asp64Gly D64G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 4 Y 2 N - - KIAA0427 Pro82Leu P82L not reviewed Insufficiently evaluated not reviewed unknown Array rs2277712 351 10758 0.0326269 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0430 Val865Leu V865L not reviewed Insufficiently evaluated not reviewed unknown Array 37 9702 0.00381365 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - KIAA0430 Ser123Gly S123G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0430 His69Tyr H69Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0467 Trp452Arg W452R not reviewed Insufficiently evaluated not reviewed unknown Array rs72883814 96 10758 0.00892359 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - KIAA0467 Arg675Trp R675W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - KIAA0467 Arg834His R834H not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - KIAA0467 Arg1520Gln R1520Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - KIAA0494 Arg426Thr R426T not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.616 - - 3 - 1 N - - KIAA0494 Leu337Pro L337P not reviewed Insufficiently evaluated not reviewed unknown Array rs6665021 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 1 - 2 - - KIAA0513 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array rs4783121 405 10756 0.0376534 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - KIAA0513 Cys145Stop C145X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA0556 Thr522Met T522M not reviewed Insufficiently evaluated not reviewed unknown Array rs12930355 1219 10758 0.113311 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0556 Pro920Leu P920L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734902 567 10758 0.052705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA0556 Ser950Leu S950L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0556 Ser1219Phe S1219F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 5 Y 1 N - - KIAA0556 Ala1240Val A1240V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 2 - 1 - - KIAA0556 Ala1267Thr A1267T not reviewed Insufficiently evaluated not reviewed unknown Array rs4787984 10751 10758 0.999349 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA0556 Val1597Ile V1597I not reviewed Insufficiently evaluated not reviewed unknown Array rs2287790 166 10758 0.0154304 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - KIAA0562 Ala686Val A686V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275831 666 10758 0.0619074 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0562 Leu414Ile L414I not reviewed Insufficiently evaluated not reviewed unknown Array rs2275824 3556 10758 0.330545 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - KIAA0562 Ile139Thr I139T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - KIAA0564 Val1564Leu V1564L not reviewed Insufficiently evaluated not reviewed unknown Array rs73464952 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0564 Glu1300Lys E1300K not reviewed Insufficiently evaluated not reviewed unknown Array rs2274810 314 9706 0.0323511 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0564 Ala1201Val A1201V not reviewed Insufficiently evaluated not reviewed unknown Array 42 9510 0.0044164 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0564 Arg660Gly R660G not reviewed Insufficiently evaluated not reviewed unknown Array rs9562353 726 10758 0.0674847 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA0564 Arg552His R552H not reviewed Insufficiently evaluated not reviewed unknown Array rs41288297 695 10758 0.0646031 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA0564 Thr523Pro T523P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0564 Met383Thr M383T not reviewed Insufficiently evaluated not reviewed unknown Array rs3742262 2596 10758 0.241309 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0564 Leu224Stop L224X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA0564 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array rs9562362 2461 10758 0.22876 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA0574 Val431Ala V431A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0574 Arg396Cys R396C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA0574 Arg393His R393H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0574 His375Arg H375R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0574 Gly314Asp G314D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0586 Met86Thr M86T not reviewed Insufficiently evaluated not reviewed unknown Array 55 9434 0.00582998 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0586 Glu366Val E366V not reviewed Insufficiently evaluated not reviewed unknown Array 54 9518 0.00567346 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0586 Leu767Pro L767P not reviewed Insufficiently evaluated not reviewed unknown Array rs1748986 9480 9698 0.977521 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA0586 Gly959Asp G959D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0586 Pro980Ala P980A not reviewed Insufficiently evaluated not reviewed unknown Array rs1617510 9570 9788 0.977728 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0644 Gly369Asp G369D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0644 Asn240Ser N240S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0649 Val98Ala V98A not reviewed Insufficiently evaluated not reviewed unknown Array rs3748192 2394 10754 0.222615 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0649 Lys206Glu K206E not reviewed Insufficiently evaluated not reviewed unknown Array rs3928777 2408 10738 0.22425 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0649 Ala288Thr A288T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0649 Met434Thr M434T not reviewed Insufficiently evaluated not reviewed unknown Array rs1808998 2887 10756 0.268408 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0649 Arg520His R520H not reviewed Insufficiently evaluated not reviewed unknown Array rs3748195 137 10758 0.0127347 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.093 - - 1 - 0 N - - KIAA0649 Arg603Lys R603K not reviewed Insufficiently evaluated not reviewed unknown Array rs35693729 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA0649 Gly651Asp G651D not reviewed Insufficiently evaluated not reviewed unknown Array rs35142799 79 10752 0.00734747 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - KIAA0649 Asn834Asp N834D not reviewed Insufficiently evaluated not reviewed unknown Array rs2078266 9391 10746 0.873907 51 0 96 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA0664 Asn1002Ser N1002S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10434 9.584e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KIAA0664 Val915Met V915M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0664 Ala633Val A633V not reviewed Insufficiently evaluated not reviewed unknown Array rs11078312 859 10088 0.0851507 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0746 Trp1054Cys W1054C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - KIAA0748 Glu496Lys E496K not reviewed Insufficiently evaluated not reviewed unknown Array rs997173 741 10756 0.0688918 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0748 Glu120Gln E120Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - KIAA0753 Gln896Arg Q896R not reviewed Insufficiently evaluated not reviewed unknown Array rs1443417 6191 9756 0.634584 52 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0753 Arg780Cys R780C not reviewed Insufficiently evaluated not reviewed unknown Array rs73342622 98 10010 0.00979021 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.175 - - 8 Y 0 N - - KIAA0753 Pro566Leu P566L not reviewed Insufficiently evaluated not reviewed unknown Array rs2304977 2746 9746 0.281757 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - KIAA0753 Leu466Pro L466P not reviewed Insufficiently evaluated not reviewed unknown Array rs2289642 6190 9728 0.636308 52 0 79 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA0753 Asp444Asn D444N not reviewed Insufficiently evaluated not reviewed unknown Array rs2289643 4604 9588 0.480184 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - KIAA0753 Glu375Asp E375D not reviewed Insufficiently evaluated not reviewed unknown Array rs9889363 3033 9496 0.319398 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 1 N - - KIAA0753 His201Gln H201Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16955985 744 10062 0.0739416 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 0 N - - KIAA0754 Gln633Arg Q633R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0754 Pro877Arg P877R not reviewed Insufficiently evaluated not reviewed unknown Array rs74066781 293 10166 0.0288216 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0754 Ala1131Thr A1131T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9268 0.000431592 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0754 Pro1148Ala P1148A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0754 Leu1359Pro L1359P not reviewed Insufficiently evaluated not reviewed unknown Array rs74066782 156 10332 0.0150987 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0774 Ser412Tyr S412Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0774 Asp537Gly D537G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0774 Gln952Pro Q952P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0776 Val85Gly V85G not reviewed Insufficiently evaluated not reviewed unknown Array 60 10718 0.00559806 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - KIAA0776 Ala648Val A648V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0802 Met242Thr M242T not reviewed Insufficiently evaluated not reviewed unknown Array rs35739383 4867 10748 0.452828 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0802 Gln501Arg Q501R not reviewed Insufficiently evaluated not reviewed unknown Array rs1965665 3288 10758 0.305633 23 0 30 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - KIAA0802 Met519Val M519V not reviewed Insufficiently evaluated not reviewed unknown Array rs34690009 133 10758 0.0123629 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0802 Asp538Gly D538G not reviewed Insufficiently evaluated not reviewed unknown Array rs3744979 1711 10758 0.159044 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KIAA0802 Gly778Ser G778S not reviewed Insufficiently evaluated not reviewed unknown Array rs12386117 1267 10758 0.117773 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 1 - 3 - - KIAA0802 Arg1049Cys R1049C not reviewed Insufficiently evaluated not reviewed unknown Array rs55676538 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA0831 Val59Ile V59I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0895L His425Gln H425Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733789 480 10136 0.047356 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - KIAA0895L Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59692769 31 9974 0.00310808 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0922 Ile604Val I604V not reviewed Insufficiently evaluated not reviewed unknown Array rs7669418 28 128 0.21875 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA0922 Ile605Val I605V not reviewed Insufficiently evaluated not reviewed unknown Array rs7669418 2878 10758 0.267522 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA0922 Met645Thr M645T not reviewed Insufficiently evaluated not reviewed unknown Array rs17370297 28 128 0.21875 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.616 - - 2 - 0 N - - KIAA0922 Met646Thr M646T not reviewed Insufficiently evaluated not reviewed unknown Array rs17370297 2880 10758 0.267708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0922 Met715Val M715V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - KIAA0922 Met716Val M716V not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0922 Tyr789His Y789H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - KIAA0922 Tyr790His Y790H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0922 Ile1064Met I1064M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - KIAA0922 Ile1065Met I1065M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0922 Gly1348Arg G1348R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0922 Gly1349Arg G1349R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0922 Ala1392Pro A1392P not reviewed Insufficiently evaluated not reviewed unknown Array rs35543386 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - KIAA0922 Ala1393Pro A1393P not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0947 Cys391Ser C391S not reviewed Insufficiently evaluated not reviewed unknown Array rs2619844 6593 9534 0.691525 51 0 84 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - KIAA0947 Lys596Glu K596E not reviewed Insufficiently evaluated not reviewed unknown Array rs10475299 652 9628 0.0677192 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - KIAA0947 Val901Ile V901I not reviewed Insufficiently evaluated not reviewed unknown Array rs2578500 6735 9704 0.694044 51 0 84 0 0 - - - - - - - - - - - - - - - - 0.445 - - -4 - 0 N - - KIAA0947 Thr1054Ala T1054A not reviewed Insufficiently evaluated not reviewed unknown Array rs3806873 172 9798 0.0175546 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KIAA0947 Gly1058Asp G1058D not reviewed Insufficiently evaluated not reviewed unknown Array rs3806874 173 9798 0.0176567 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.509 - - 4 Y 1 N - - KIAA0947 Cys1388Trp C1388W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - KIAA0947 Ala1739Thr A1739T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737045 498 10126 0.0491803 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0947 Gln1829Lys Q1829K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - -2 - 2 N - - KIAA0947 Asp2205Asn D2205N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - KIAA1009 Met77Thr M77T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - KIAA1012 Arg1201Gln R1201Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1012 Tyr1176Cys Y1176C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1012 Thr1146Ala T1146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1012 Lys820Glu K820E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1012 Leu137Ser L137S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1012 Asn74Ser N74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1024 Val320Phe V320F not reviewed Insufficiently evaluated not reviewed unknown Array rs11634652 1453 10758 0.135062 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - KIAA1024 Ile832Val I832V not reviewed Insufficiently evaluated not reviewed unknown Array rs2297773 2991 10758 0.278026 29 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIAA1026 Val225Leu V225L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1026 Val313Leu V313L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1026 Val319Leu V319L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1026 Ala706Thr A706T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1026 Arg763Cys R763C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - KIAA1033 Val323Leu V323L not reviewed Insufficiently evaluated not reviewed unknown Array 123 9470 0.0129884 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.742 - - 0 - 1 N - - KIAA1033 Val901Ile V901I not reviewed Insufficiently evaluated not reviewed unknown Array rs1663564 9021 9570 0.942633 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1045 Lys355Gln K355Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 54 0.037037 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - KIAA1107 Asn660Tyr N660Y not reviewed Insufficiently evaluated not reviewed unknown Array 50 3232 0.0154703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - KIAA1107 Asn890Ser N890S not reviewed Insufficiently evaluated not reviewed unknown Array rs560389 2376 3232 0.735148 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1107 Thr993Asn T993N not reviewed Insufficiently evaluated not reviewed unknown Array rs565156 3189 3234 0.986085 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1107 Phe1028Val F1028V not reviewed Insufficiently evaluated not reviewed unknown Array rs17578364 177 3234 0.054731 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 3 - - KIAA1107 Ile1128Val I1128V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1109 Arg197Ser R197S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - KIAA1109 Ser316Gly S316G not reviewed Insufficiently evaluated not reviewed unknown Array 390 9588 0.0406758 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - KIAA1109 Val640Ile V640I not reviewed Insufficiently evaluated not reviewed unknown Array rs72925924 14 9888 0.00141586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1109 Ile978Thr I978T not reviewed Insufficiently evaluated not reviewed unknown Array rs6848868 722 9592 0.0752711 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA1109 Glu1282Gly E1282G not reviewed Insufficiently evaluated not reviewed unknown Array 58 9508 0.00610013 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - KIAA1109 Asp1951Glu D1951E not reviewed Insufficiently evaluated not reviewed unknown Array rs56363411 247 9694 0.0254797 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1109 Arg2222Trp R2222W not reviewed Insufficiently evaluated not reviewed unknown Array rs45510500 362 9758 0.0370978 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIAA1109 Ser2521Arg S2521R not reviewed Insufficiently evaluated not reviewed unknown Array rs45608936 107 9708 0.0110218 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 3 - 2 - 1 - - KIAA1109 Thr4352Ala T4352A not reviewed Insufficiently evaluated not reviewed unknown Array rs2306369 413 10234 0.0403557 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1109 Thr4786Ala T4786A not reviewed Insufficiently evaluated not reviewed unknown Array rs10017270 352 9666 0.0364163 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1128 Asn84Ser N84S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1128 Glu707Ala E707A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1128 Gln787Pro Q787P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1128 Ser819Pro S819P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1143 Ile139Met I139M not reviewed Insufficiently evaluated not reviewed unknown Array rs3853404 339 10746 0.0315466 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - KIAA1161 Phe385Tyr F385Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7852399 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1161 Asp53Glu D53E not reviewed Insufficiently evaluated not reviewed unknown Array rs4879781 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1161 Asn4Ile N4I not reviewed Insufficiently evaluated not reviewed unknown Array rs2297776 1543 9854 0.156586 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1199 Gln39Pro Q39P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 4 Y 0 N - - KIAA1199 His783Arg H783R not reviewed Insufficiently evaluated not reviewed unknown Array rs12441101 15 10756 0.00139457 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.148 - - 1 - 0 N - - KIAA1199 Gly870Asp G870D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.478 - - 4 Y 1 N - - KIAA1210 Glu1616Gly E1616G not reviewed Insufficiently evaluated not reviewed unknown Array rs2305570 1552 7786 0.199332 22 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1210 Ile945Phe I945F not reviewed Insufficiently evaluated not reviewed unknown Array rs3761592 1290 7899 0.163312 18 0 31 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - KIAA1210 Gly103Val G103V not reviewed Insufficiently evaluated not reviewed unknown Array rs5910522 7533 8144 0.924975 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KIAA1211 Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array rs35378328 142 9952 0.0142685 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1211 Ser96Pro S96P not reviewed Insufficiently evaluated not reviewed unknown Array 152 9820 0.0154786 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1211 Leu269Ile L269I not reviewed Insufficiently evaluated not reviewed unknown Array rs6823339 3442 9518 0.361631 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIAA1211 Gly299Arg G299R not reviewed Insufficiently evaluated not reviewed unknown Array rs59615456 2460 9084 0.270806 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1211 Ala385Ser A385S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1211 Ala385Val A385V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1211 Gln418Lys Q418K not reviewed Insufficiently evaluated not reviewed unknown Array 550 10074 0.054596 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.742 - - -2 - 0 N - - KIAA1211 Pro654Leu P654L not reviewed Insufficiently evaluated not reviewed unknown Array rs61750793 42 9808 0.00428222 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.486 - - 7 Y 1 N - - KIAA1211 Arg655Pro R655P not reviewed Insufficiently evaluated not reviewed unknown Array rs7672073 9649 9808 0.983789 52 0 101 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIAA1211 Ser776Leu S776L not reviewed Insufficiently evaluated not reviewed unknown Array rs3796547 3019 9972 0.302748 24 0 24 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - KIAA1211 Ala993Val A993V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10110 9.8911e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - KIAA1211 Glu1083Asp E1083D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - KIAA1217 Ala145Gly A145G not reviewed Insufficiently evaluated not reviewed unknown Array rs17506606 2013 10758 0.187117 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1217 Ala65Gly A65G not reviewed Insufficiently evaluated not reviewed unknown Array rs17506606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1217 Ala807Thr A807T not reviewed Insufficiently evaluated not reviewed unknown Array rs10828663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1217 Ala852Thr A852T not reviewed Insufficiently evaluated not reviewed unknown Array rs10828663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1217 Ala887Thr A887T not reviewed Insufficiently evaluated not reviewed unknown Array rs10828663 2923 10758 0.271705 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - KIAA1217 Pro1216Leu P1216L not reviewed Insufficiently evaluated not reviewed unknown Array rs59421477 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - KIAA1217 Pro1362Ala P1362A not reviewed Insufficiently evaluated not reviewed unknown Array rs16924863 760 10758 0.0706451 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - KIAA1239 Leu569Met L569M not reviewed Insufficiently evaluated not reviewed unknown Array rs4634233 764 3234 0.23624 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - KIAA1239 Ala810Pro A810P not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1244 Ser689Ala S689A not reviewed Insufficiently evaluated not reviewed unknown Array rs7764091 2446 10750 0.227535 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1244 Ala1571Thr A1571T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - KIAA1244 Lys2031Arg K2031R not reviewed Insufficiently evaluated not reviewed unknown Array rs35964895 173 10754 0.016087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 1 - 2 - - KIAA1267 Ile1085Thr I1085T not reviewed Insufficiently evaluated not reviewed unknown Array rs34579536 1754 10758 0.163041 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA1267 Pro1010Leu P1010L not reviewed Insufficiently evaluated not reviewed unknown Array rs7220988 3738 10758 0.347462 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1267 Gly900Arg G900R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.588 - - 6 Y 1 N - - KIAA1267 Ser718Pro S718P not reviewed Insufficiently evaluated not reviewed unknown Array rs34043286 1768 10758 0.164343 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA1267 Gln243Lys Q243K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - -2 - 1 N - - KIAA1267 Asn225Asp N225D not reviewed Insufficiently evaluated not reviewed unknown Array rs35643216 1441 10758 0.133947 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.334 - - -1 - 0 N - - KIAA1267 Thr221Ile T221I not reviewed Insufficiently evaluated not reviewed unknown Array rs17662853 1197 10758 0.111266 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.812 - - 3 - 0 N - - KIAA1267 Lys104Thr K104T not reviewed Insufficiently evaluated not reviewed unknown Array rs17585974 1452 10758 0.134969 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 1 N - - KIAA1274 Ser141Leu S141L not reviewed Insufficiently evaluated not reviewed unknown Array rs2275060 1594 10758 0.148169 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - KIAA1274 Ile160Val I160V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIAA1274 Phe161Ile F161I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.328 - - 2 - 1 N - - KIAA1274 Ala551Pro A551P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KIAA1274 Arg721Cys R721C not reviewed Insufficiently evaluated not reviewed unknown Array rs3740447 1121 10758 0.104202 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 1 N - - KIAA1274 Gly828Arg G828R not reviewed Insufficiently evaluated not reviewed unknown Array rs10999406 1197 10756 0.111287 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1279 Gly66Ser G66S not reviewed Insufficiently evaluated not reviewed unknown Array rs2255607 4651 10746 0.432812 39 0 45 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 0 N - - KIAA1279 Gly68Arg G68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.275 - - 6 Y 1 N - - KIAA1305 Pro49Ser P49S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1305 Ser275Gly S275G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1305 Thr457Met T457M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1305 Gln868Lys Q868K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1305 Ala978Thr A978T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1310 Pro547Ser P547S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIAA1310 Pro634Ser P634S not reviewed Insufficiently evaluated not reviewed unknown Array rs35715176 114 9974 0.0114297 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.085 - - 3 - 1 - 1 - - KIAA1324 His55Tyr H55Y not reviewed Insufficiently evaluated not reviewed unknown Array 332 10758 0.0308608 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - KIAA1324 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array rs678238 10707 10758 0.995259 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1324 Gly516Asp G516D not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - KIAA1324 Thr623Pro T623P not reviewed Insufficiently evaluated not reviewed unknown Array rs659543 6823 10758 0.634226 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KIAA1324 Leu1009Pro L1009P not reviewed Insufficiently evaluated not reviewed unknown Array rs1052878 9172 10758 0.852575 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1324L Arg4Cys R4C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1370 Thr610Ala T610A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731670 2059 9564 0.215286 30 0 30 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 0 N - - KIAA1370 Thr597Met T597M not reviewed Insufficiently evaluated not reviewed unknown Array rs59704628 218 9538 0.0228559 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 1 N - - KIAA1370 Val560Ile V560I not reviewed Insufficiently evaluated not reviewed unknown Array rs12915981 5803 9426 0.615638 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1370 Gln135Arg Q135R not reviewed Insufficiently evaluated not reviewed unknown Array rs8036680 1010 9624 0.104946 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 1 N - - KIAA1377 Gly238Cys G238C not reviewed Insufficiently evaluated not reviewed unknown Array rs7926728 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1377 Ser275Tyr S275Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11225089 388 10758 0.0360662 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 3 - 3 - - KIAA1377 Ile281Thr I281T not reviewed Insufficiently evaluated not reviewed unknown Array rs11225090 387 10758 0.0359732 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 1 - 2 - - KIAA1377 Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array rs11225091 387 10758 0.0359732 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 1 - 2 - - KIAA1377 Pro710Ser P710S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - 3 - 1 N - - KIAA1377 Ser1077Asn S1077N not reviewed Insufficiently evaluated not reviewed unknown Array rs6590942 10527 10756 0.97871 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1383 Asp32Asn D32N not reviewed Insufficiently evaluated not reviewed unknown Array 11 9632 0.00114203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1383 Ser62Pro S62P not reviewed Insufficiently evaluated not reviewed unknown Array rs10797593 872 9754 0.0893992 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA1383 Arg303Leu R303L not reviewed Insufficiently evaluated not reviewed unknown Array rs3766497 980 10148 0.0965708 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1383 Asn420Ser N420S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739198 461 9918 0.0464811 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIAA1383 Lys593Glu K593E not reviewed Insufficiently evaluated not reviewed unknown Array rs59165168 12 9802 0.00122424 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1383 Asp817Gly D817G not reviewed Insufficiently evaluated not reviewed unknown Array 1 9590 0.000104275 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1407 Glu696Asp E696D not reviewed Insufficiently evaluated not reviewed unknown Array rs6784095 1133 10758 0.105317 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.941 - - -2 - 1 N - - KIAA1407 Arg374Trp R374W not reviewed Insufficiently evaluated not reviewed unknown Array 331 10758 0.0307678 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIAA1409 Leu1304Phe L1304F not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1409 Val1420Ala V1420A not reviewed Insufficiently evaluated not reviewed unknown Array rs28670114 1801 10758 0.16741 19 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1409 Val1493Ile V1493I not reviewed Insufficiently evaluated not reviewed unknown Array rs4905081 4270 10758 0.396914 33 0 37 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1409 Glu1593Asp E1593D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1409 Ile1837Val I1837V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1430 Thr238Ala T238A not reviewed Insufficiently evaluated not reviewed unknown Array rs1133657 4360 9846 0.442819 38 0 53 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KIAA1462 Pro1299Leu P1299L not reviewed Insufficiently evaluated not reviewed unknown Array 35 9688 0.00361272 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - KIAA1462 Pro1250Leu P1250L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.595 - - 7 Y 1 N - - KIAA1462 Ser1002Thr S1002T not reviewed Insufficiently evaluated not reviewed unknown Array rs3739998 3188 9764 0.326506 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 0 N - - KIAA1462 Arg957Gly R957G not reviewed Insufficiently evaluated not reviewed unknown Array rs2185724 4175 10254 0.407158 44 0 53 0 0 - - - - - - - - - - - - - - - - 0.109 - - 6 Y 0 N - - KIAA1462 Asn26Lys N26K not reviewed Insufficiently evaluated not reviewed unknown Array 177 10208 0.0173393 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIAA1462 Glu24Lys E24K not reviewed Insufficiently evaluated not reviewed unknown Array rs72810797 303 10190 0.029735 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KIAA1462 His11Leu H11L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KIAA1467 Gly174Arg G174R not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - KIAA1467 Arg295Gln R295Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62636619 468 10758 0.0435025 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - KIAA1468 Ile782Val I782V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - KIAA1486 Thr586Pro T586P not reviewed Insufficiently evaluated not reviewed unknown Array rs3748993 9530 9898 0.962821 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KIAA1522 Pro116Ser P116S not reviewed Insufficiently evaluated not reviewed unknown Array rs11803515 251 9970 0.0251755 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - KIAA1522 Ser173Pro S173P not reviewed Insufficiently evaluated not reviewed unknown Array rs3737994 1 10170 9.8328e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1522 Arg215Pro R215P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1522 Glu287Asp E287D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1522 Met291Val M291V not reviewed Insufficiently evaluated not reviewed unknown Array rs12730560 1666 10294 0.161842 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1524 Glu725Stop E725X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA1524 Pro494Leu P494L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10716 0.00111982 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 3 - 2 - - KIAA1524 Thr409Ile T409I not reviewed Insufficiently evaluated not reviewed unknown Array rs9856308 258 10758 0.0239822 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1524 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2278911 1035 10734 0.0964226 16 0 21 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 1 N - - KIAA1524 Ser213Phe S213F not reviewed Insufficiently evaluated not reviewed unknown Array 177 10744 0.0164743 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.928 - - 5 Y 2 N - - KIAA1529 Pro301His P301H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - KIAA1529 Leu473Arg L473R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1529 Pro548Arg P548R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1529 Gly898Arg G898R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1529 Lys920Glu K920E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1529 Ser995Cys S995C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1529 Phe1146Leu F1146L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1529 Asp1518Asn D1518N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - KIAA1530 Arg391His R391H not reviewed Insufficiently evaluated not reviewed unknown Array rs2276904 1151 10736 0.107209 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1530 Arg599Trp R599W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1530 Pro600Leu P600L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1530 Pro620Leu P620L not reviewed Insufficiently evaluated not reviewed unknown Array rs28522910 7409 10748 0.689338 47 0 72 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1539 Phe394Leu F394L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - KIAA1543 Glu648Lys E648K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - KIAA1543 Glu675Lys E675K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1543 Glu648Gly E648G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - KIAA1543 Glu675Gly E675G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1549 Tyr1270His Y1270H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1549 Ser799Leu S799L not reviewed Insufficiently evaluated not reviewed unknown Array rs2251220 4488 10298 0.435813 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1549 Pro602Leu P602L not reviewed Insufficiently evaluated not reviewed unknown Array rs2774960 4155 9998 0.415583 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1549 Arg567Gly R567G not reviewed Insufficiently evaluated not reviewed unknown Array rs2774962 5192 9690 0.53581 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1549 Pro436Ala P436A not reviewed Insufficiently evaluated not reviewed unknown Array rs2718131 2684 9934 0.270183 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1549 Thr314Ala T314A not reviewed Insufficiently evaluated not reviewed unknown Array rs59985563 2969 10564 0.281049 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1549 Ala170Pro A170P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10430 0.00373921 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1586 Phe75Leu F75L not reviewed Insufficiently evaluated not reviewed unknown Array rs36113897 500 10756 0.0464857 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 2 N - - KIAA1586 Val81Met V81M not reviewed Insufficiently evaluated not reviewed unknown Array rs6926980 2880 10758 0.267708 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - KIAA1586 Arg769Trp R769W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - KIAA1602 Ser681Pro S681P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1602 Leu406Phe L406F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1602 Leu326Met L326M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1602 Arg213Gln R213Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1609 Arg450Trp R450W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KIAA1609 Cys267Arg C267R not reviewed Insufficiently evaluated not reviewed unknown Array rs422145 10735 10758 0.997862 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KIAA1609 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array rs431818 10575 10758 0.982989 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1609 Asp172Glu D172E not reviewed Insufficiently evaluated not reviewed unknown Array rs436278 4701 10758 0.436977 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIAA1609 His97Gln H97Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8055536 636 10758 0.0591188 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.077 - - -1 - 1 - 3 - - KIAA1609 Arg10Leu R10L not reviewed Insufficiently evaluated not reviewed unknown Array rs8046813 189 10758 0.0175683 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - KIAA1614 Leu64Pro L64P not reviewed Insufficiently evaluated not reviewed unknown Array rs10732273 9691 9730 0.995992 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1614 Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array 186 10292 0.0180723 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - KIAA1614 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10338 0.000580383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.639 - - 1 - 1 N - - KIAA1614 Arg316His R316H not reviewed Insufficiently evaluated not reviewed unknown Array 15 9972 0.00150421 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.405 - - 1 - 1 N - - KIAA1614 Ser326Phe S326F not reviewed Insufficiently evaluated not reviewed unknown Array 482 9898 0.0486967 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.689 - - 5 Y 1 N - - KIAA1614 Leu801Phe L801F not reviewed Insufficiently evaluated not reviewed unknown Array rs3795504 4141 10050 0.41204 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1614 Asn1078Asp N1078D not reviewed Insufficiently evaluated not reviewed unknown Array rs2331995 9935 9974 0.99609 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1618 Glu203Asp E203D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1618 Met270Thr M270T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1618 Met321Thr M321T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1618 His708Asp H708D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1618 Pro729Leu P729L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1618 Lys1034Met K1034M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1632 Ala1511Val A1511V not reviewed Insufficiently evaluated not reviewed unknown Array rs1893523 2268 10086 0.224866 27 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1632 Val1058Ala V1058A not reviewed Insufficiently evaluated not reviewed unknown Array rs3744998 4641 9720 0.477469 42 0 52 0 0 - - - - - - - - - - - - - - - - 0.439 - - 2 - 0 N - - KIAA1632 Glu844Asp E844D not reviewed Insufficiently evaluated not reviewed unknown Array rs3744999 424 9610 0.0441207 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - KIAA1632 Lys182Glu K182E not reviewed Insufficiently evaluated not reviewed unknown Array rs59422275 1191 9820 0.121283 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1632 Thr89Ser T89S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - KIAA1644 Ser197Leu S197L not reviewed Insufficiently evaluated not reviewed unknown Array rs62226816 161 10456 0.0153979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - KIAA1671 Pro205Thr P205T not reviewed Insufficiently evaluated not reviewed unknown Array rs13054858 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - KIAA1671 Lys439Arg K439R not reviewed Insufficiently evaluated not reviewed unknown Array rs17667531 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - -3 - 2 N - - KIAA1671 Pro537Leu P537L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - KIAA1671 Arg644Leu R644L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - KIAA1671 Pro930Leu P930L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 7 Y 0 N - - KIAA1671 Arg1223Lys R1223K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -3 - 0 N - - KIAA1680 Gly382Ser G382S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1683 Val1002Ile V1002I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1683 Val1189Ile V1189I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740687 255 10562 0.0241432 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1683 Val956Ile V956I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1683 Pro1095His P1095H not reviewed Insufficiently evaluated not reviewed unknown Array rs999813 5661 10734 0.52739 48 0 65 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIAA1683 Pro862His P862H not reviewed Insufficiently evaluated not reviewed unknown Array rs999813 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1683 Pro908His P908H not reviewed Insufficiently evaluated not reviewed unknown Array rs999813 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1683 Ala940Val A940V not reviewed Insufficiently evaluated not reviewed unknown Array 58 3234 0.0179344 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1683 Pro789Leu P789L not reviewed Insufficiently evaluated not reviewed unknown Array rs2277921 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1683 Pro835Leu P835L not reviewed Insufficiently evaluated not reviewed unknown Array rs2277921 2724 10756 0.253254 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1683 Pro777Arg P777R not reviewed Insufficiently evaluated not reviewed unknown Array rs12608777 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1683 Pro823Arg P823R not reviewed Insufficiently evaluated not reviewed unknown Array rs12608777 1078 10750 0.100279 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIAA1683 Tyr602Phe Y602F not reviewed Insufficiently evaluated not reviewed unknown Array rs8110972 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1683 Tyr648Phe Y648F not reviewed Insufficiently evaluated not reviewed unknown Array rs8110972 5487 10758 0.510039 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1683 Ala568Val A568V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1683 Ala614Val A614V not reviewed Insufficiently evaluated not reviewed unknown Array rs16982285 1644 10758 0.152817 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1683 Gln565Leu Q565L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1683 Gln611Leu Q611L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740751 426 10758 0.0395984 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1683 Thr564Pro T564P not reviewed Insufficiently evaluated not reviewed unknown Array rs2277922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1683 Thr610Pro T610P not reviewed Insufficiently evaluated not reviewed unknown Array rs2277922 5724 10758 0.532069 48 0 66 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KIAA1683 Thr478Ala T478A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 Thr524Ala T524A not reviewed Insufficiently evaluated not reviewed unknown Array rs12462974 1644 10758 0.152817 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1683 Met313Thr M313T not reviewed Insufficiently evaluated not reviewed unknown Array rs3746186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1683 Met359Thr M359T not reviewed Insufficiently evaluated not reviewed unknown Array rs3746186 5494 10758 0.51069 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1683 Ser239Thr S239T not reviewed Insufficiently evaluated not reviewed unknown Array rs8104533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1683 Ser285Thr S285T not reviewed Insufficiently evaluated not reviewed unknown Array rs8104533 5487 10758 0.510039 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIAA1683 Leu189Val L189V not reviewed Insufficiently evaluated not reviewed unknown Array rs8103906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1683 Leu235Val L235V not reviewed Insufficiently evaluated not reviewed unknown Array rs8103906 5708 10758 0.530582 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1683 Cys151Arg C151R not reviewed Insufficiently evaluated not reviewed unknown Array rs12609001 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1683 Cys197Arg C197R not reviewed Insufficiently evaluated not reviewed unknown Array rs12609001 1070 10744 0.0995905 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KIAA1683 Leu44Pro L44P not reviewed Insufficiently evaluated not reviewed unknown Array rs1469023 5736 10756 0.533284 48 0 67 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1688 Leu225Phe L225F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1712 Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73011419 15 10758 0.00139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - KIAA1712 Met117Thr M117T not reviewed Insufficiently evaluated not reviewed unknown Array rs35841125 68 10756 0.00632205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - KIAA1712 Lys119Gln K119Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - KIAA1712 Gly147Ser G147S not reviewed Insufficiently evaluated not reviewed unknown Array rs4695918 5924 10758 0.55066 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1712 Ile175Thr I175T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - KIAA1731 Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10831088 3045 3234 0.941558 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1731 Ala499Glu A499E not reviewed Insufficiently evaluated not reviewed unknown Array rs4753495 3044 3234 0.941249 53 0 98 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KIAA1731 Arg694Ser R694S not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KIAA1731 Gln1285Lys Q1285K not reviewed Insufficiently evaluated not reviewed unknown Array rs72643380 24 3234 0.00742115 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - KIAA1731 Val2026Leu V2026L not reviewed Insufficiently evaluated not reviewed unknown Array 40 3234 0.0123686 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - KIAA1731 Glu2173Ala E2173A not reviewed Insufficiently evaluated not reviewed unknown Array rs67879380 341 3234 0.105442 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.26 - - 3 - 0 N - - KIAA1731 Glu2437Val E2437V not reviewed Insufficiently evaluated not reviewed unknown Array rs7131178 2336 3234 0.722325 45 0 70 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 1 N - - KIAA1731 Arg2550Lys R2550K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - -3 - 0 N - - KIAA1737 Ser261Pro S261P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - KIAA1751 Gly628Cys G628C not reviewed Insufficiently evaluated not reviewed unknown Array rs3820011 2321 10572 0.219542 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - KIAA1751 Gly575Arg G575R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KIAA1751 Arg508His R508H not reviewed Insufficiently evaluated not reviewed unknown Array rs61734006 94 10286 0.00913864 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 1 - 1 - - KIAA1751 Pro441Arg P441R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734007 274 9638 0.0284291 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 1 N - - KIAA1751 Lys378Arg K378R not reviewed Insufficiently evaluated not reviewed unknown Array rs35269416 1635 10218 0.160012 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - KIAA1751 Ile363Val I363V not reviewed Insufficiently evaluated not reviewed unknown Array rs16824588 4388 10140 0.432742 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1755 Arg1045Trp R1045W not reviewed Insufficiently evaluated not reviewed unknown Array rs3746471 3792 10758 0.352482 30 0 35 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 1 N - - KIAA1755 Glu1043Lys E1043K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - KIAA1755 Glu940Lys E940K not reviewed Insufficiently evaluated not reviewed unknown Array rs760998 3172 10756 0.294905 32 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1755 Ala633Val A633V not reviewed Insufficiently evaluated not reviewed unknown Array rs16987188 543 10758 0.0504741 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 1 - 1 - - KIAA1755 Lys339Asn K339N not reviewed Insufficiently evaluated not reviewed unknown Array rs1205434 3091 10758 0.287321 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.427 - - 1 - 0 N - - KIAA1772 Lys1863Gln K1863Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1772 Lys1863Met K1863M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1797 Leu166Ser L166S not reviewed Insufficiently evaluated not reviewed unknown Array rs10511687 3795 10758 0.352761 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1797 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array rs10441706 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIAA1797 Asp555Tyr D555Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - KIAA1797 Thr718Ser T718S not reviewed Insufficiently evaluated not reviewed unknown Array rs7875872 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIAA1797 Asp1011Gly D1011G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 4 Y 2 N - - KIAA1797 Thr1373Ala T1373A not reviewed Insufficiently evaluated not reviewed unknown Array rs3206852 3942 10758 0.366425 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - KIAA1797 Lys1668Glu K1668E not reviewed Insufficiently evaluated not reviewed unknown Array rs4977881 7947 10756 0.738843 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1804 Arg4Pro R4P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1804 Glu54Asp E54D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1804 Gly725Arg G725R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1804 Val728Ile V728I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1804 Glu741Asp E741D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1804 Cys784Gly C784G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1841 His150Arg H150R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KIAA1841 Leu700Phe L700F not reviewed Insufficiently evaluated not reviewed unknown Array rs72883033 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1853 Ser243Asn S243N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1853 Arg406Gln R406Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1881 Leu1316Arg L1316R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1881 Arg1134Cys R1134C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1881 Ala1124Thr A1124T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Val998Ile V998I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1881 Ala883Thr A883T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Lys860Asn K860N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Asn849Asp N849D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1881 Ala826Val A826V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Met802Thr M802T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Lys761Asn K761N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Ile734Val I734V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1881 Ala668Val A668V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Val661Ala V661A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Ser659Gly S659G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Phe653Leu F653L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1881 Ser626Gly S626G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Ile620Val I620V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1881 Val592Met V592M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1881 Met430Val M430V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1881 Thr421Ala T421A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Thr416Ala T416A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Gly263Ser G263S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Val124Ala V124A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1919 Thr147Ala T147A not reviewed Insufficiently evaluated not reviewed unknown Array rs72939596 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 0 N - - KIAA1919 Gln293Pro Q293P not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 4 Y 1 N - - KIAA1949 Gly339Arg G339R not reviewed Insufficiently evaluated not reviewed unknown Array rs9262143 508 7256 0.070011 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - KIAA1967 Thr35Pro T35P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - KIAA1967 Lys287Asn K287N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 1 - 1 N - - KIAA1967 Gln603His Q603H not reviewed Insufficiently evaluated not reviewed unknown Array rs59511580 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -1 - 2 N - - KIAA1984 Met38Thr M38T not reviewed Insufficiently evaluated not reviewed unknown Array rs945386 2421 10186 0.237679 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1984 Leu113Arg L113R not reviewed Insufficiently evaluated not reviewed unknown Array rs4546744 2164 10198 0.212198 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 0 N - - KIAA1984 Asp129Ala D129A not reviewed Insufficiently evaluated not reviewed unknown Array rs7859194 1877 9618 0.195155 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIAA1984 Leu144Met L144M not reviewed Insufficiently evaluated not reviewed unknown Array rs35342663 364 8310 0.0438026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1984 Trp342Arg W342R not reviewed Insufficiently evaluated not reviewed unknown Array rs2811795 8768 10238 0.856417 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1984 Asn421Thr N421T not reviewed Insufficiently evaluated not reviewed unknown Array rs2254143 8350 10278 0.812415 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA2013 Glu630Lys E630K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - KIAA2013 Asp475Glu D475E not reviewed Insufficiently evaluated not reviewed unknown Array 70 10754 0.0065092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA2013 Cys400Arg C400R not reviewed Insufficiently evaluated not reviewed unknown Array rs112307665 2 100 0.02 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KIAA2018 Val2200Ala V2200A not reviewed Insufficiently evaluated not reviewed unknown Array rs930818 9965 9976 0.998897 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA2018 Ala1966Ser A1966S not reviewed Insufficiently evaluated not reviewed unknown Array rs2290477 100 10446 0.00957304 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA2018 Ser1818Gly S1818G not reviewed Insufficiently evaluated not reviewed unknown Array rs75025102 374 9990 0.0374374 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - KIAA2018 Ala907Glu A907E not reviewed Insufficiently evaluated not reviewed unknown Array rs9852318 20 9650 0.00207254 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 2 - 2 - - KIAA2018 Ile261Val I261V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9816 0.000101874 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA2018 Pro222Ala P222A not reviewed Insufficiently evaluated not reviewed unknown Array rs9866806 2707 9932 0.272553 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - KIDINS220 Ala1690Gly A1690G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - KIDINS220 Ala1690Thr A1690T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIDINS220 Gln1608His Q1608H not reviewed Insufficiently evaluated not reviewed unknown Array rs1044280 2524 10162 0.248376 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - KIDINS220 Thr1357Ala T1357A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - KIDINS220 Arg1356Ser R1356S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KIF12 Ala503Thr A503T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF12 Pro450Leu P450L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF12 Met293Ile M293I not reviewed Insufficiently evaluated not reviewed unknown Array rs35719524 1831 10758 0.170199 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIF12 Val62Leu V62L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF13A Gly1722Ser G1722S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF13A Gly1735Ser G1735S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF13A Gly1770Ser G1770S not reviewed Insufficiently evaluated not reviewed unknown Array rs73721713 36 9722 0.00370294 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF13A Thr1244Ile T1244I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - KIF13A Thr1257Ile T1257I not reviewed Insufficiently evaluated not reviewed unknown Array rs61729950 57 9938 0.00573556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 3 - 1 N - - KIF13A Arg158Trp R158W not reviewed Insufficiently evaluated not reviewed unknown Array 24 9430 0.00254507 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KIF14 Pro1633Ala P1633A not reviewed Insufficiently evaluated not reviewed unknown Array rs12120084 3273 10758 0.304239 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.773 - - 2 - 0 N - - KIF14 Asp1415Val D1415V not reviewed Insufficiently evaluated not reviewed unknown Array 213 10754 0.0198066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.355 - - 8 Y 1 N - - KIF14 Arg61Ile R61I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - KIF15 Asp408Glu D408E not reviewed Insufficiently evaluated not reviewed unknown Array rs72875734 129 10740 0.0120112 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.101 - - -2 - 0 N - - KIF15 Asn495Asp N495D not reviewed Insufficiently evaluated not reviewed unknown Array rs72875737 143 10758 0.0132924 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIF15 Val938Ile V938I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIF15 Thr996Ser T996S not reviewed Insufficiently evaluated not reviewed unknown Array rs11710339 1603 10758 0.149005 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIF15 Lys1081Asn K1081N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KIF15 His1082Asn H1082N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - KIF15 Leu1206Met L1206M not reviewed Insufficiently evaluated not reviewed unknown Array rs3804583 4214 10758 0.391708 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - KIF16B Phe1272Leu F1272L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIF16B Asn1119Ser N1119S not reviewed Insufficiently evaluated not reviewed unknown Array rs8123195 666 10758 0.0619074 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF16B Met1027Thr M1027T not reviewed Insufficiently evaluated not reviewed unknown Array rs6034464 7334 10758 0.681725 51 0 86 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KIF17 Asp932Glu D932E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIF17 Asp933Glu D933E not reviewed Insufficiently evaluated not reviewed unknown Array rs631357 8482 10758 0.788437 47 0 71 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIF17 Val402Met V402M not reviewed Insufficiently evaluated not reviewed unknown Array rs522496 6317 10758 0.587191 47 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF17 Ser369Arg S369R not reviewed Insufficiently evaluated not reviewed unknown Array rs56750936 323 10758 0.0300242 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF17 Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array rs2296225 947 10758 0.0880275 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIF17 Arg111Gly R111G not reviewed Insufficiently evaluated not reviewed unknown Array rs35835983 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIF18A Ile735Val I735V not reviewed Insufficiently evaluated not reviewed unknown Array rs10458896 4266 10756 0.396616 32 0 48 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIF18A Asn594Ser N594S not reviewed Insufficiently evaluated not reviewed unknown Array rs73434496 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.688 - - 0 - 1 N - - KIF18A Thr273Ala T273A not reviewed Insufficiently evaluated not reviewed unknown Array rs12272419 842 10758 0.0782673 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIF18B Pro766Ser P766S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739617 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF18B Thr619Asn T619N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF18B Gln518Arg Q518R not reviewed Insufficiently evaluated not reviewed unknown Array rs17546822 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - KIF19 Ile21Leu I21L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - KIF19 Ile21Thr I21T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 3 - 1 N - - KIF19 Ser22Cys S22C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 3 - 2 N - - KIF19 Gly291Cys G291C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KIF19 Arg471Trp R471W not reviewed Insufficiently evaluated not reviewed unknown Array rs2382644 830 10754 0.0771806 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 1 N - - KIF19 Ala804Thr A804T not reviewed Insufficiently evaluated not reviewed unknown Array rs2271534 1127 10154 0.110991 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIF19 Arg807His R807H not reviewed Insufficiently evaluated not reviewed unknown Array rs2271535 3599 10152 0.354511 27 0 28 0 0 - - - - - - - - - - - - - - - - 0.713 - - 1 - 0 N - - KIF19 Leu937Pro L937P not reviewed Insufficiently evaluated not reviewed unknown Array rs9891620 1781 9992 0.178243 28 0 30 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - KIF1B Asn731Ser N731S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KIF1B Tyr1087Cys Y1087C not reviewed Insufficiently evaluated not reviewed unknown Array rs2297881 339 10758 0.0315114 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - KIF1B Val1554Met V1554M not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KIF1B Pro1765Leu P1765L not reviewed Insufficiently evaluated not reviewed unknown Array rs61999305 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - KIF1C Ala371Thr A371T not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIF20A Glu248Val E248V not reviewed Insufficiently evaluated not reviewed unknown Array rs73261939 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.888 - - 5 Y 2 N - - KIF20B Ala50Gly A50G not reviewed Insufficiently evaluated not reviewed unknown Array rs1129777 1620 10748 0.150726 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.574 - - 1 - 0 N - - KIF20B Glu490Asp E490D not reviewed Insufficiently evaluated not reviewed unknown Array rs17484219 1946 10666 0.182449 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - KIF20B Asn716Ile N716I not reviewed Insufficiently evaluated not reviewed unknown Array rs12572012 1634 10684 0.152939 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIF20B His749Leu H749L not reviewed Insufficiently evaluated not reviewed unknown Array rs3758388 1570 10506 0.149438 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF20B Asn830Ser N830S not reviewed Insufficiently evaluated not reviewed unknown Array 78 10742 0.00726122 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF20B Asp971Glu D971E not reviewed Insufficiently evaluated not reviewed unknown Array rs1062465 3385 10756 0.314708 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIF20B Leu1062Val L1062V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF20B Lys1065Arg K1065R not reviewed Insufficiently evaluated not reviewed unknown Array 75 10712 0.00700149 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.877 - - -3 - 2 N - - KIF20B Cys1137Arg C1137R not reviewed Insufficiently evaluated not reviewed unknown Array rs1886996 8103 10744 0.754188 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KIF20B Asn1179Ser N1179S not reviewed Insufficiently evaluated not reviewed unknown Array rs1886997 3282 10634 0.308633 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF20B Ile1520Thr I1520T not reviewed Insufficiently evaluated not reviewed unknown Array rs34785987 545 10750 0.0506977 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIF20B Lys1609Glu K1609E not reviewed Insufficiently evaluated not reviewed unknown Array rs34354493 1823 10758 0.169455 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF21A Glu1224Asp E1224D not reviewed Insufficiently evaluated not reviewed unknown Array 486 10754 0.0451925 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - KIF21A Gly614Val G614V not reviewed Insufficiently evaluated not reviewed unknown Array 338 10758 0.0314185 2 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - KIF21A Gln397Pro Q397P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 4 Y 4 N - - KIF23 Thr51Ile T51I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751119 548 10758 0.0509388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.898 - - 3 - 2 - 1 - - KIF23 Asn98Ser N98S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751120 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIF24 His991Tyr H991Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - -1 - 2 N - - KIF24 Ser837Phe S837F not reviewed Insufficiently evaluated not reviewed unknown Array rs41274041 1675 10758 0.155698 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 1 - 1 - - KIF24 Trp218Leu W218L not reviewed Insufficiently evaluated not reviewed unknown Array rs17350674 1351 9480 0.142511 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - KIF24 Met140Val M140V not reviewed Insufficiently evaluated not reviewed unknown Array rs10972048 4721 9782 0.482621 26 0 36 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - KIF24 Arg109Gly R109G not reviewed Insufficiently evaluated not reviewed unknown Array rs41274845 696 9754 0.0713553 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 1 - 1 - - KIF25 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - -1 - 2 N - - KIF25 Lys28Met K28M not reviewed Insufficiently evaluated not reviewed unknown Array rs4708626 368 10758 0.0342071 23 0 23 0 0 - - - - - - - - - - - - - - - - 0.17 - - 4 Y 0 N - - KIF25 Ala41Thr A41T not reviewed Insufficiently evaluated not reviewed unknown Array rs34049091 249 10758 0.0231456 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KIF25 Glu227Gly E227G not reviewed Insufficiently evaluated not reviewed unknown Array rs58330252 229 10436 0.0219433 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.841 - - 6 Y 1 N - - KIF25 Thr229Pro T229P not reviewed Insufficiently evaluated not reviewed unknown Array rs12197062 788 10438 0.0754934 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.503 - - 4 Y 0 N - - KIF25 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array rs2073634 616 10436 0.0590264 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KIF25 Arg264Pro R264P not reviewed Insufficiently evaluated not reviewed unknown Array rs34801387 246 10446 0.0235497 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.921 - - 5 Y 2 N - - KIF26A Ser885Tyr S885Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7149578 192 9862 0.0194687 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.119 - - 5 Y 1 - 1 - - KIF26A Lys1696Arg K1696R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743202 346 9046 0.0382489 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 1 - 1 - - KIF26B Ala410Pro A410P not reviewed Insufficiently evaluated not reviewed unknown Array rs61754898 779 9658 0.0806585 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIF26B Gln496Arg Q496R not reviewed Insufficiently evaluated not reviewed unknown Array 19 9804 0.00193798 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - KIF26B Arg904Gln R904Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744484 364 9806 0.0371201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - KIF27 Arg1164Gln R1164Q not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KIF27 Met1147Val M1147V not reviewed Insufficiently evaluated not reviewed unknown Array rs58077086 1890 10754 0.175749 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - KIF27 Asn1036Asp N1036D not reviewed Insufficiently evaluated not reviewed unknown Array rs55654273 1493 10754 0.138832 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - KIF27 Ile987Val I987V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - -4 - 0 N - - KIF27 Gly658Glu G658E not reviewed Insufficiently evaluated not reviewed unknown Array rs13289566 2484 10748 0.231113 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF27 Glu433Lys E433K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF27 Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array rs12001918 1494 10758 0.138873 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - KIF2B Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array rs3803824 3195 10758 0.296988 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIF2B Gly128Arg G128R not reviewed Insufficiently evaluated not reviewed unknown Array rs9912492 474 10758 0.0440602 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - KIF2B Pro148Ser P148S not reviewed Insufficiently evaluated not reviewed unknown Array rs59657238 786 10758 0.0730619 13 0 12 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - KIF2B Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - KIF2B Trp370Ser W370S not reviewed Insufficiently evaluated not reviewed unknown Array rs73989591 475 10758 0.0441532 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.103 - - 7 Y 0 N - - KIF2B Val387Ile V387I not reviewed Insufficiently evaluated not reviewed unknown Array rs73989593 475 10758 0.0441532 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - KIF2B Pro417Ser P417S not reviewed Insufficiently evaluated not reviewed unknown Array rs4561518 8894 10758 0.826734 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIF2B Arg437Gly R437G not reviewed Insufficiently evaluated not reviewed unknown Array rs4561519 8977 10758 0.834449 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF2C Ile449Leu I449L not reviewed Insufficiently evaluated not reviewed unknown Array rs4342887 1893 10758 0.175962 27 0 30 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - KIF3C Val598Gly V598G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - 8 Y 1 N - - KIF3C Ala429Thr A429T not reviewed Insufficiently evaluated not reviewed unknown Array rs72856512 11 10758 0.00102249 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - KIF3C Gln370Arg Q370R not reviewed Insufficiently evaluated not reviewed unknown Array rs1465878 10756 10758 0.999814 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF4A Leu422Trp L422W not reviewed Insufficiently evaluated not reviewed unknown Array rs1199457 1393 8761 0.159 9 0 15 0 0 - - - - - - - - - - - - - - - - 0.243 - - 5 Y 0 N - - KIF4B Lys94Ile K94I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KIF4B Arg580Leu R580L not reviewed Insufficiently evaluated not reviewed unknown Array rs6580126 8400 10758 0.780814 49 0 82 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF4B Arg680His R680H not reviewed Insufficiently evaluated not reviewed unknown Array rs17116710 1745 10758 0.162205 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - KIF4B Val755Ile V755I not reviewed Insufficiently evaluated not reviewed unknown Array rs56080630 1124 10758 0.10448 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.877 - - -4 - 1 N - - KIF4B Arg1029His R1029H not reviewed Insufficiently evaluated not reviewed unknown Array rs60928118 1580 10758 0.146867 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - KIF5B Asp665Tyr D665Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIF5C Arg14Leu R14L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KIF6 Trp719Arg W719R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs20455 5457 10758 0.50725 38 0 57 0 0 - - - - - - - - - - - - - - - Y 0.01 - - 7 Y 1 N - - KIF6 Arg551Lys R551K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748649 237 10758 0.0220301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - KIF6 Arg512His R512H not reviewed Insufficiently evaluated not reviewed unknown Array rs2273063 348 10758 0.032348 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 2 - - KIF6 Ile63Val I63V not reviewed Insufficiently evaluated not reviewed unknown Array rs34059104 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - KIF7 Arg1325Gln R1325Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF7 Gly1176Ser G1176S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF7 Gly1005Arg G1005R not reviewed Insufficiently evaluated not reviewed unknown Array rs12900805 5660 10680 0.529963 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF7 Ser958Ile S958I not reviewed Insufficiently evaluated not reviewed unknown Array rs3803530 5749 10758 0.534393 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIF7 Thr368Ala T368A not reviewed Insufficiently evaluated not reviewed unknown Array 2969 3224 0.920906 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIF7 Asp52Asn D52N not reviewed Insufficiently evaluated not reviewed unknown Array rs8179065 730 3234 0.225727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIF9 Arg573Trp R573W not reviewed Insufficiently evaluated not reviewed unknown Array rs2276853 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF9 Arg638Trp R638W not reviewed Insufficiently evaluated not reviewed unknown Array rs2276853 6089 10758 0.565997 49 0 66 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIF9 Cys295Gly C295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.587 - - 7 Y 1 N - - KIF9 Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array rs2270569 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 1 - 5 - - KIF9 Arg12Leu R12L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KIFAP3 Leu86Arg L86R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - KIFC1 Ala58Val A58V not reviewed Insufficiently evaluated not reviewed unknown Array rs73741830 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIFC2 Ser160Pro S160P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.084 - - 3 - 0 N - - KIFC2 Glu174Lys E174K not reviewed Insufficiently evaluated not reviewed unknown Array rs35968570 77 10754 0.00716013 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 1 - - KIFC2 Thr180Ala T180A not reviewed Insufficiently evaluated not reviewed unknown Array rs59038540 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIFC2 Glu317Gly E317G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - KIFC3 His98Tyr H98Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIR2DL1 Val5Phe V5F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL1 Thr91Lys T91K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL1 Val111Leu V111L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DL1 Leu135Pro L135P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR2DL1 Pro175Thr P175T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR2DL1 Gly188Asp G188D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR2DL1 His203Arg H203R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DL3 Val9Ala V9A not reviewed Insufficiently evaluated not reviewed unknown Array rs3810343 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR2DL3 Gly12Ala G12A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DL3 Pro21Thr P21T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR2DL3 Gln56Glu Q56E not reviewed Insufficiently evaluated not reviewed unknown Array rs35719984 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR2DL3 Arg62Thr R62T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIR2DL3 Phe66Tyr F66Y not reviewed Insufficiently evaluated not reviewed unknown Array rs673568 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR2DL3 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIR2DL3 Pro126Ser P126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL3 Pro224Ser P224S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL3 Pro131Leu P131L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - KIR2DL3 Pro229Leu P229L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - KIR2DL3 Glu197Asp E197D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR2DL3 Glu295Asp E295D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR2DL3 Asn209Asp N209D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIR2DL3 Asn307Asp N307D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIR2DL3 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DL3 Arg318His R318H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DL4 Tyr53Cys Y53C not reviewed Insufficiently evaluated not reviewed unknown Array rs618835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR2DL4 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DL4 Ala138Thr A138T not reviewed Insufficiently evaluated not reviewed unknown Array rs1051454 2743 6720 0.408185 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIR2DL4 Ile154Met I154M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIR2DL4 Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR2DL4 Pro209Ala P209A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051456 205 706 0.290368 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIR2DL4 Pro214Leu P214L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR2DL4 Ala305Pro A305P not reviewed Insufficiently evaluated not reviewed unknown Array 58 6464 0.00897277 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR2DL4 Glu339Asp E339D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR2DL4 Cys341Tyr C341Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1051457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR2DS4 Ile7Ser I7S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIR2DS4 Gly12Ala G12A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DS4 Gln22His Q22H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIR2DS4 Gly24Glu G24E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR2DS4 Pro105Thr P105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR2DS4 Met238Thr M238T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR2DS4 Lys247Asn K247N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DS4 Lys289Arg K289R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIR3DL1 Ser2Leu S2L not reviewed Insufficiently evaluated not reviewed unknown Array rs605219 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR3DL1 Leu13Phe L13F not reviewed Insufficiently evaluated not reviewed unknown Array rs1142881 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR3DL1 Met23Val M23V not reviewed Insufficiently evaluated not reviewed unknown Array rs1142882 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR3DL1 Ile68Val I68V not reviewed Insufficiently evaluated not reviewed unknown Array rs45556431 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR3DL1 Ile75Leu I75L not reviewed Insufficiently evaluated not reviewed unknown Array rs1049150 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR3DL1 Ser79Gly S79G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR3DL1 Arg96Trp R96W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL1 Val113Met V113M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIR3DL1 Val113Leu V113L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIR3DL1 Gly159Trp G159W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL1 Lys162Glu K162E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR3DL1 Arg166Ser R166S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIR3DL1 Pro184Ser P184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR3DL1 Leu187Arg L187R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR3DL1 Pro203Ser P203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR3DL1 Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - KIR3DL1 Gly259Arg G259R not reviewed Insufficiently evaluated not reviewed unknown Array rs1049215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR3DL1 Trp304Leu W304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIR3DL1 Pro336Leu P336L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL1 Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - KIR3DL1 Leu355Phe L355F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR3DL1 Ser385Arg S385R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR3DL1 Glu394Gln E394Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR3DL1 Thr429Met T429M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR3DL2 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array rs654686 16 118 0.135593 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIR3DL2 Leu113Val L113V not reviewed Insufficiently evaluated not reviewed unknown Array rs17412418 1919 10364 0.18516 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIR3DL2 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - KIR3DL2 Glu158Asp E158D not reviewed Insufficiently evaluated not reviewed unknown Array rs1048270 474 4288 0.110541 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIR3DL2 Thr397Met T397M not reviewed Insufficiently evaluated not reviewed unknown Array rs3745902 2604 10758 0.242052 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.534 - - 2 - 0 N - - KIR3DL2 Leu422Pro L422P not reviewed Insufficiently evaluated not reviewed unknown Array rs58413124 454 10758 0.0422012 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL3 Arg52His R52H not reviewed Insufficiently evaluated not reviewed unknown Array 90 1588 0.0566751 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIR3DL3 Arg77Trp R77W not reviewed Insufficiently evaluated not reviewed unknown Array 135 3230 0.0417957 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL3 Val168Ile V168I not reviewed Insufficiently evaluated not reviewed unknown Array rs270790 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR3DL3 His321Asn H321N not reviewed Insufficiently evaluated not reviewed unknown Array rs602444 3528 9870 0.357447 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIR3DL3 His321Tyr H321Y not reviewed Insufficiently evaluated not reviewed unknown Array rs602444 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIR3DL3 Val324Ala V324A not reviewed Insufficiently evaluated not reviewed unknown Array rs662386 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR3DL3 Ala348Pro A348P not reviewed Insufficiently evaluated not reviewed unknown Array 930 9738 0.0955022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIR3DP1 Met149Arg M149R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR3DP1 Lys160Thr K160T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - KIR3DP1 Glu258Asp E258D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIRREL Ser573Leu S573L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - KIRREL2 Arg19Ser R19S not reviewed Insufficiently evaluated not reviewed unknown Array rs446014 740 10758 0.068786 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - KIRREL2 Gly29Arg G29R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIRREL2 Gly79Arg G79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - KIRREL2 Ala120Thr A120T not reviewed Insufficiently evaluated not reviewed unknown Array rs404299 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIRREL2 Ala170Thr A170T not reviewed Insufficiently evaluated not reviewed unknown Array rs404299 1653 10758 0.153653 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIRREL2 Arg252Ser R252S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIRREL2 Arg302Ser R302S not reviewed Insufficiently evaluated not reviewed unknown Array rs73928337 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - KIRREL2 Ser506Asn S506N not reviewed Insufficiently evaluated not reviewed unknown Array rs35775934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIRREL2 Ser556Asn S556N not reviewed Insufficiently evaluated not reviewed unknown Array rs35775934 433 10752 0.0402716 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - KIRREL2 Lys541Glu K541E not reviewed Insufficiently evaluated not reviewed unknown Array rs382789 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIRREL2 Lys591Glu K591E not reviewed Insufficiently evaluated not reviewed unknown Array rs382789 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KISS1 Pro81Arg P81R not reviewed Insufficiently evaluated not reviewed unknown Array rs4889 1456 7400 0.196757 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KISS1 Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array rs35431622 677 8340 0.0811751 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KISS1 Glu20Lys E20K not reviewed Insufficiently evaluated not reviewed unknown Array rs12998 247 9622 0.0256703 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KISS1R Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array rs73507527 162 9922 0.0163274 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - KISS1R Leu364His L364H not reviewed Insufficiently evaluated not reviewed unknown Array rs350132 4420 5002 0.883647 14 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - KIT Val374Ile V374I not reviewed Insufficiently evaluated not reviewed unknown Array rs73137716 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -4 - 2 - 4 - - KIT Met537Leu M537L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 3 - 1 - - KIT Met541Leu M541L not reviewed Insufficiently evaluated not reviewed unknown Array rs3822214 1030 10758 0.0957427 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - -3 - 2 - 10 - - KIT Arg952Trp R952W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - KIT Arg956Trp R956W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - KL Phe352Val F352V not reviewed Insufficiently evaluated not reviewed unknown Array rs9536314 1830 10758 0.170106 14 0 17 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 1 N - - KL Cys370Ser C370S not reviewed Insufficiently evaluated not reviewed unknown Array rs9527025 1830 10758 0.170106 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KL Met687Thr M687T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 2 - 1 N - - KLB Ser9Tyr S9Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10003369 70 10758 0.00650678 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.193 - - 5 Y 1 - 10 - - KLB Pro65Ala P65A not reviewed Insufficiently evaluated not reviewed unknown Array rs34905034 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 1 - 4 - - KLB Trp304Stop W304X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KLB Arg728Gln R728Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17618244 1619 10738 0.150773 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 0 N - - KLB Gln1020Lys Q1020K not reviewed Insufficiently evaluated not reviewed unknown Array rs4975017 2865 10758 0.266313 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - KLC2 Pro440Ser P440S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLC2 Pro517Ser P517S not reviewed Insufficiently evaluated not reviewed unknown Array rs2276036 1850 10748 0.172125 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - KLC4 Thr303Met T303M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLF1 Phe182Leu F182L not reviewed Insufficiently evaluated not reviewed unknown Array rs2072596 109 5036 0.0216442 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.815 - - 0 - 2 - 4 - - KLF1 Ser102Pro S102P not reviewed Insufficiently evaluated not reviewed unknown Array rs2072597 2497 9436 0.264625 27 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLF11 Gln62Arg Q62R not reviewed Insufficiently evaluated not reviewed unknown Array rs35927125 1012 10758 0.0940695 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 1 N - - KLF13 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLF14 Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array 546 10368 0.052662 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 1 N - - KLF14 Ser58Pro S58P not reviewed Insufficiently evaluated not reviewed unknown Array 93 1324 0.0702417 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLF14 His47Gln H47Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLF14 His47Pro H47P not reviewed Insufficiently evaluated not reviewed unknown Array 109 1778 0.0613048 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLF17 Ile35Asn I35N not reviewed Insufficiently evaluated not reviewed unknown Array rs11210969 2619 10758 0.243447 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.009 - - 7 Y 0 N - - KLF17 Ser57Thr S57T not reviewed Insufficiently evaluated not reviewed unknown Array rs2429051 5811 10758 0.540156 37 0 47 0 0 - - - - - - - - - - - - - - - - 0.068 - - -2 - 0 N - - KLF17 Gln80His Q80H not reviewed Insufficiently evaluated not reviewed unknown Array rs6656945 643 10758 0.0597695 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 1 N - - KLF17 Asn156Ser N156S not reviewed Insufficiently evaluated not reviewed unknown Array rs2485652 3173 10758 0.294943 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLF2 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array rs3745318 3886 4582 0.848101 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KLHDC10 Ser2Leu S2L not reviewed Insufficiently evaluated not reviewed unknown Array 70 8636 0.0081056 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 2 - 1 - - KLHDC4 Asp331Tyr D331Y not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KLHDC4 Pro305Ser P305S not reviewed Insufficiently evaluated not reviewed unknown Array rs56153410 395 10758 0.0367169 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.705 - - 3 - 1 N - - KLHDC4 Thr229Ala T229A not reviewed Insufficiently evaluated not reviewed unknown Array 424 10758 0.0394125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KLHDC4 Leu155Val L155V not reviewed Insufficiently evaluated not reviewed unknown Array rs3751727 241 10758 0.0224019 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KLHDC4 Gly130Val G130V not reviewed Insufficiently evaluated not reviewed unknown Array rs34779002 797 10758 0.0740844 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.482 - - 8 Y 0 N - - KLHDC4 Thr102Ile T102I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303771 3907 10758 0.363172 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLHDC4 Leu56Val L56V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303772 1135 10758 0.105503 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KLHDC6 Gln22Lys Q22K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLHDC6 Val304Leu V304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHDC7A Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array rs7512414 1197 10336 0.115809 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLHDC7A Gly49Arg G49R not reviewed Insufficiently evaluated not reviewed unknown Array rs34109355 1173 10106 0.11607 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KLHDC7A Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array rs34976233 1162 10016 0.116014 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KLHDC7A Arg126Trp R126W not reviewed Insufficiently evaluated not reviewed unknown Array rs72944731 56 10062 0.00556549 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KLHDC7A Pro141Arg P141R not reviewed Insufficiently evaluated not reviewed unknown Array rs2992755 6339 10182 0.622569 40 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLHDC7A Pro155Thr P155T not reviewed Insufficiently evaluated not reviewed unknown Array rs2992754 1623 10318 0.157298 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KLHDC7A Arg160Ser R160S not reviewed Insufficiently evaluated not reviewed unknown Array rs11261022 3236 10364 0.312235 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLHDC7A Arg194Pro R194P not reviewed Insufficiently evaluated not reviewed unknown Array rs7515150 1268 10758 0.117866 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLHDC7A His273Asn H273N not reviewed Insufficiently evaluated not reviewed unknown Array rs2992753 6898 10758 0.641197 45 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLHDC7A Thr351Pro T351P not reviewed Insufficiently evaluated not reviewed unknown Array rs2992752 6687 10420 0.641747 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KLHDC7A Ala453Glu A453E not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHDC7A Leu482Val L482V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHDC7B Val18Ile V18I not reviewed Insufficiently evaluated not reviewed unknown Array 66 3234 0.0204082 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KLHDC7B Ser164Asn S164N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - KLHDC7B Val194Leu V194L not reviewed Insufficiently evaluated not reviewed unknown Array 212 7052 0.0300624 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 1 N - - KLHDC7B Gln231Arg Q231R not reviewed Insufficiently evaluated not reviewed unknown Array 2270 9038 0.251162 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.951 - - 0 - 1 N - - KLHDC7B His533Arg H533R not reviewed Insufficiently evaluated not reviewed unknown Array rs131779 6617 10652 0.621198 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - KLHDC9 Ser171Arg S171R not reviewed Insufficiently evaluated not reviewed unknown Array rs11576830 2349 10718 0.219164 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLHDC9 Ala282Thr A282T not reviewed Insufficiently evaluated not reviewed unknown Array rs1128750 421 10758 0.0391337 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - KLHDC9 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLHDC9 Ser288Asn S288N not reviewed Insufficiently evaluated not reviewed unknown Array rs1128750 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHL14 Gly71Glu G71E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL17 Ser465Phe S465F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - KLHL18 Ile227Thr I227T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHL18 Thr364Ile T364I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHL2 Glu27Lys E27K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHL2 Met65Val M65V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KLHL22 Arg371Lys R371K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - KLHL24 Asp98Glu D98E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.851 - - -2 - 2 N - - KLHL25 Val250Ile V250I not reviewed Insufficiently evaluated not reviewed unknown Array rs35582838 1138 10758 0.105782 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KLHL25 Arg133Trp R133W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KLHL28 Ile349Val I349V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 1 - 1 - - KLHL3 Met380Thr M380T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - KLHL3 Met380Leu M380L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 2 N - - KLHL30 Gly31Ser G31S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241985 4106 10440 0.393295 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KLHL30 Arg160Gln R160Q not reviewed Insufficiently evaluated not reviewed unknown Array 307 10318 0.0297538 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHL30 Ala195Val A195V not reviewed Insufficiently evaluated not reviewed unknown Array rs12692216 6838 10108 0.676494 35 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KLHL31 Cys315Ser C315S not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - KLHL31 Val156Ile V156I not reviewed Insufficiently evaluated not reviewed unknown Array rs3799260 8759 10758 0.814185 54 0 90 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - KLHL32 Asn129Ser N129S not reviewed Insufficiently evaluated not reviewed unknown Array rs2294763 555 10758 0.0515895 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLHL32 Arg178Cys R178C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 8 Y 2 N - - KLHL33 Ala436Thr A436T not reviewed Insufficiently evaluated not reviewed unknown Array rs7145318 73 126 0.579365 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KLHL33 Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHL33 Glu265Gly E265G not reviewed Insufficiently evaluated not reviewed unknown Array rs1953225 32 128 0.25 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KLHL33 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17242648 16 128 0.125 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLHL33 Ala24Ser A24S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLHL36 Glu18Lys E18K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - 0 - 0 N - - KLHL38 Lys508Glu K508E not reviewed Insufficiently evaluated not reviewed unknown Array rs72711231 411 10380 0.0395954 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.784 - - 0 - 1 N - - KLHL38 Gly394Arg G394R not reviewed Insufficiently evaluated not reviewed unknown Array rs16898691 448 10118 0.0442775 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.292 - - 6 Y 1 N - - KLHL38 Asn352Tyr N352Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11784175 988 10186 0.0969959 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - KLHL38 Arg346Lys R346K not reviewed Insufficiently evaluated not reviewed unknown Array rs11780509 7794 10186 0.765168 55 0 87 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - KLHL38 Ile334Val I334V not reviewed Insufficiently evaluated not reviewed unknown Array rs11784192 8154 10116 0.80605 55 0 88 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KLHL38 His98Arg H98R not reviewed Insufficiently evaluated not reviewed unknown Array rs71505429 8125 10214 0.795477 55 0 56 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - KLHL38 Asp15Asn D15N not reviewed Insufficiently evaluated not reviewed unknown Array 412 10406 0.0395925 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 1 - 1 - - KLHL5 Ile10Leu I10L not reviewed Insufficiently evaluated not reviewed unknown Array rs2711941 7669 10758 0.712865 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KLHL5 Arg36Ser R36S not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHL5 Leu350Ile L350I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLHL5 Leu365Ile L365I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLHL5 Leu411Ile L411I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - KLHL8 Asp303Val D303V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 8 Y 0 N - - KLHL8 Asp303Asn D303N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - KLHL9 Asp471Gly D471G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - KLK1 Lys186Glu K186E not reviewed Insufficiently evaluated not reviewed unknown Array rs5517 2647 10758 0.246049 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLK1 Glu145Gln E145Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5516 7056 10758 0.655884 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KLK1 Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs5515 613 10758 0.0569809 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KLK10 Leu149Pro L149P not reviewed Insufficiently evaluated not reviewed unknown Array rs2075690 6410 10688 0.599738 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KLK10 Ser50Ala S50A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745535 7885 10728 0.734993 41 0 70 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLK11 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array rs1048328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KLK11 Arg166Cys R166C not reviewed Insufficiently evaluated not reviewed unknown Array rs1048328 640 10758 0.0594906 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.057 - - 8 Y 0 N - - KLK11 Gly17Glu G17E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLK11 Gly49Glu G49E not reviewed Insufficiently evaluated not reviewed unknown Array rs3745539 720 10756 0.0669394 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.205 - - 6 Y 0 N - - KLK14 Arg64His R64H not reviewed Insufficiently evaluated not reviewed unknown Array rs2569490 450 9142 0.0492234 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLK14 His45Tyr H45Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2569491 4115 9928 0.414484 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLK14 Gln33Arg Q33R not reviewed Insufficiently evaluated not reviewed unknown Array rs35287116 4390 10016 0.438299 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLK2 Arg250Trp R250W not reviewed Insufficiently evaluated not reviewed unknown Array rs198977 3328 10758 0.309351 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - KLK2 Asp255Ala D255A not reviewed Insufficiently evaluated not reviewed unknown Array rs60268688 229 10758 0.0212865 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.558 - - 5 Y 1 N - - KLK3 Asp102Asn D102N not reviewed Insufficiently evaluated not reviewed unknown Array rs61752561 316 10758 0.0293735 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLK3 Leu132Ile L132I not reviewed Insufficiently evaluated not reviewed unknown Array rs2003783 13 128 0.101562 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KLK3 Leu89Ile L89I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLK3 Ile136Thr I136T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLK3 Ile138Thr I138T not reviewed Insufficiently evaluated not reviewed unknown Array rs17632542 572 10758 0.0531697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLK3 Ile179Thr I179T not reviewed Insufficiently evaluated not reviewed unknown Array rs17632542 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLK3 Glu217Lys E217K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLK4 His197Gln H197Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2569527 10726 10758 0.997025 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLK4 Ser22Ala S22A not reviewed Insufficiently evaluated not reviewed unknown Array rs1654551 1302 10758 0.121026 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLK5 Asn153Asp N153D not reviewed Insufficiently evaluated not reviewed unknown Array rs183854 10755 10758 0.999721 44 0 88 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLK6 Arg78Trp R78W not reviewed Insufficiently evaluated not reviewed unknown Array rs61469141 408 10758 0.0379253 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.789 - - 7 Y 2 - 2 - - KLK8 Val154Ile V154I not reviewed Insufficiently evaluated not reviewed unknown Array rs16988799 768 10758 0.0713887 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 1 - 4 - - KLK8 Val199Ile V199I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - KLK9 Glu246Lys E246K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLKB1 Ser143Asn S143N not reviewed Insufficiently evaluated not reviewed unknown Array rs3733402 6268 10758 0.582636 46 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLKB1 Thr358Ala T358A not reviewed Insufficiently evaluated not reviewed unknown Array rs4253379 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLKB1 Arg560Gln R560Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4253325 1610 10750 0.149767 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLKBL4 Thr295Ala T295A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLKBL4 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KLKBL4 Lys210Asn K210N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - KLKBL4 Ser182Gly S182G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLRA1 Cys182Tyr C182Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLRA1 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KLRA1 Val140Phe V140F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KLRA1 Phe110Tyr F110Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KLRA1 Gln71Arg Q71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLRA1 Ser41Pro S41P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLRB1 Ile168Thr I168T not reviewed Insufficiently evaluated not reviewed unknown Array rs1135816 39 122 0.319672 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.975 - - 3 - 1 N - - KLRB1 Ser128Gly S128G not reviewed Insufficiently evaluated not reviewed unknown Array rs34919993 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.721 - - 2 - 1 N - - KLRC1 Ser152Leu S152L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KLRC1 Ser170Leu S170L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 6 Y 0 N - - KLRC1 Ile150Ser I150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KLRC1 Ile168Ser I168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KLRC1 Ser149Ala S149A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - KLRC1 Ser167Ala S167A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLRC1 Asn29Ser N29S not reviewed Insufficiently evaluated not reviewed unknown Array rs2253849 10605 10756 0.985961 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLRC2 Phe102Ser F102S not reviewed Insufficiently evaluated not reviewed unknown Array rs61917677 8623 10742 0.802737 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLRC2 Arg19Pro R19P not reviewed Insufficiently evaluated not reviewed unknown Array 3198 10758 0.297267 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLRC2 Asn2Ser N2S not reviewed Insufficiently evaluated not reviewed unknown Array rs28403159 1396 10758 0.129764 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLRC3 Cys155Ser C155S not reviewed Insufficiently evaluated not reviewed unknown Array rs2682495 126 126 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLRC3 His113Pro H113P not reviewed Insufficiently evaluated not reviewed unknown Array rs2682494 126 126 1 52 0 104 0 0 - - - - - - - - - - - - - - - - 0.073 - - 5 Y 0 N - - KLRC3 Ala106Thr A106T not reviewed Insufficiently evaluated not reviewed unknown Array rs28626640 108 108 1 42 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KLRC3 Trp19Ser W19S not reviewed Insufficiently evaluated not reviewed unknown Array rs2682491 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KLRC3 Trp19Arg W19R not reviewed Insufficiently evaluated not reviewed unknown Array rs2682490 59 114 0.517544 18 0 36 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KLRC3 Ser2Asn S2N not reviewed Insufficiently evaluated not reviewed unknown Array rs35175989 60 72 0.833333 31 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLRC4 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array rs2617170 6540 10730 0.609506 41 0 63 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLRC4 Ile29Ser I29S not reviewed Insufficiently evaluated not reviewed unknown Array rs1841958 7232 10758 0.672244 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLRD1 Ser25Ala S25A not reviewed Insufficiently evaluated not reviewed unknown Array rs10772256 9902 10758 0.920431 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLRF1 Leu67Phe L67F not reviewed Insufficiently evaluated not reviewed unknown Array rs2232548 812 9592 0.0846539 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 0 N - - KLRF1 Cys125Tyr C125Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KLRF1 Cys126Tyr C126Y not reviewed Insufficiently evaluated not reviewed unknown Array rs60498737 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLRG2 Gly339Ala G339A not reviewed Insufficiently evaluated not reviewed unknown Array rs17160911 1128 9102 0.123929 26 0 28 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - KLRG2 Lys152Thr K152T not reviewed Insufficiently evaluated not reviewed unknown Array rs1860150 5627 8648 0.650671 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KLRG2 Ala109Val A109V not reviewed Insufficiently evaluated not reviewed unknown Array rs12707447 2839 7310 0.388372 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - KLRK1 Thr72Ala T72A not reviewed Insufficiently evaluated not reviewed unknown Array rs2255336 7784 10758 0.723555 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KLRK1 Arg5Ser R5S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KMO Arg452Cys R452C not reviewed Insufficiently evaluated not reviewed unknown Array rs1053230 1756 10758 0.163227 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KNDC1 Gly351Ser G351S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 2 - 1 N - - KNDC1 Glu436Gly E436G not reviewed Insufficiently evaluated not reviewed unknown Array rs3810964 3817 10744 0.355268 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KNDC1 Gly581Ser G581S not reviewed Insufficiently evaluated not reviewed unknown Array rs35152544 804 10758 0.0747351 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KNDC1 Leu717Pro L717P not reviewed Insufficiently evaluated not reviewed unknown Array rs2998139 5912 10544 0.560698 40 0 61 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KNDC1 Val806Asp V806D not reviewed Insufficiently evaluated not reviewed unknown Array rs3008390 2672 8596 0.310842 23 0 24 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - KNDC1 Arg826His R826H not reviewed Insufficiently evaluated not reviewed unknown Array 224 8232 0.0272109 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KNDC1 Pro867Leu P867L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10580 0.00321361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - KNDC1 Arg1035Gln R1035Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 3 - 1 - - KNDC1 Arg1038Trp R1038W not reviewed Insufficiently evaluated not reviewed unknown Array rs35604376 216 10758 0.0200781 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.699 - - 7 Y 1 N - - KNDC1 Cys1444Arg C1444R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.797 - - 8 Y 1 N - - KNDC1 Glu1551Stop E1551X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KNG1 Met178Thr M178T not reviewed Insufficiently evaluated not reviewed unknown Array rs1656922 70 128 0.546875 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KNG1 Ile197Met I197M not reviewed Insufficiently evaluated not reviewed unknown Array rs2304456 12 126 0.0952381 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.909 - - -1 - 1 N - - KNG1 Asp430Glu D430E not reviewed Insufficiently evaluated not reviewed unknown Array rs5030084 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.086 - - -2 - 1 - 4 - - KNG1 Ile581Thr I581T not reviewed Insufficiently evaluated not reviewed unknown Array rs710446 60 128 0.46875 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KNG1 Gly642Ala G642A not reviewed Insufficiently evaluated not reviewed unknown Array rs5030087 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KNTC1 Thr198Ala T198A not reviewed Insufficiently evaluated not reviewed unknown Array rs61751320 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - KNTC1 Lys245Asn K245N not reviewed Insufficiently evaluated not reviewed unknown Array rs7968222 1462 9472 0.15435 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.289 - - 1 - 0 N - - KNTC1 Cys475Phe C475F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - KNTC1 His748Arg H748R not reviewed Insufficiently evaluated not reviewed unknown Array rs61751322 455 9576 0.0475146 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 2 N - - KNTC1 Pro1830Leu P1830L not reviewed Insufficiently evaluated not reviewed unknown Array rs7310898 357 9710 0.0367662 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.933 - - 7 Y 3 - 3 - - KNTC1 Val2021Gly V2021G not reviewed Insufficiently evaluated not reviewed unknown Array rs11837038 779 9904 0.0786551 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 - 3 - - KPNA1 Ser73Asn S73N not reviewed Insufficiently evaluated not reviewed unknown Array rs4678193 10677 10756 0.992655 35 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KPNA2 Arg117Trp R117W not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 7 Y 1 N - - KPNA5 Ile473Thr I473T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KPRP Gln14His Q14H not reviewed Insufficiently evaluated not reviewed unknown Array rs17612167 1800 10758 0.167317 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - KPRP Val37Ala V37A not reviewed Insufficiently evaluated not reviewed unknown Array rs944683 1278 10758 0.118795 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 0 N - - KPRP Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array rs16834461 1884 10758 0.175125 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - KPRP Cys413Ser C413S not reviewed Insufficiently evaluated not reviewed unknown Array rs4329520 5554 10758 0.516267 43 0 52 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KPRP Pro438Ala P438A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KPRP Pro444Leu P444L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KPRP Pro446Ser P446S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KPRP Arg496Ser R496S not reviewed Insufficiently evaluated not reviewed unknown Array rs6703165 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KPRP Pro532Thr P532T not reviewed Insufficiently evaluated not reviewed unknown Array rs6703294 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 3 - 1 - - KRBA1 His320Arg H320R not reviewed Insufficiently evaluated not reviewed unknown Array rs7791608 1952 9096 0.2146 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRBA1 Ser340Asn S340N not reviewed Insufficiently evaluated not reviewed unknown Array rs73725568 67 9746 0.00687461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRBA1 Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10066 0.00576197 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRBA1 Ile661Ser I661S not reviewed Insufficiently evaluated not reviewed unknown Array rs709065 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRBA1 Pro775Ser P775S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRBA2 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 2 - 1 N - - KRBA2 Asp163Tyr D163Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KRBA2 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array 376 10754 0.0349637 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - KRCC1 Gly131Ser G131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KREMEN1 Gly78Ala G78A not reviewed Insufficiently evaluated not reviewed unknown Array rs73390888 9 9638 0.000933803 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KREMEN1 Arg157Ser R157S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751700 54 10704 0.00504484 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KREMEN1 Leu292Val L292V not reviewed Insufficiently evaluated not reviewed unknown Array rs34920087 1394 9900 0.140808 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KREMEN1 Arg406His R406H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KREMEN1 Arg423His R423H not reviewed Insufficiently evaluated not reviewed unknown Array rs73393075 14 9628 0.00145409 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KREMEN2 His78Gln H78Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62032327 646 9050 0.0713812 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - KREMEN2 Ala285Asp A285D not reviewed Insufficiently evaluated not reviewed unknown Array rs11641195 797 4066 0.196016 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - KREMEN2 Gly381Arg G381R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KREMEN2 Gly407Glu G407E not reviewed Insufficiently evaluated not reviewed unknown Array 10 9828 0.0010175 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - KRI1 Ser709Pro S709P not reviewed Insufficiently evaluated not reviewed unknown Array rs3087689 3832 10752 0.356399 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRI1 Leu451Pro L451P not reviewed Insufficiently evaluated not reviewed unknown Array rs1982074 1581 10758 0.14696 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRI1 Glu355Gln E355Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3826709 5945 10758 0.552612 46 0 67 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 0 N - - KRI1 Ser315Leu S315L not reviewed Insufficiently evaluated not reviewed unknown Array rs34743532 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - KRI1 Glu272Lys E272K not reviewed Insufficiently evaluated not reviewed unknown Array rs3745249 4140 10758 0.38483 33 0 41 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 0 N - - KRI1 Gly144Arg G144R not reviewed Insufficiently evaluated not reviewed unknown Array rs12984043 3364 10758 0.312698 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - KRI1 Thr5Ala T5A not reviewed Insufficiently evaluated not reviewed unknown Array rs3218222 6097 7632 0.798873 31 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRR1 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11540407 2512 10756 0.233544 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.784 - - 0 - 0 N - - KRR1 Pro43Ser P43S not reviewed Insufficiently evaluated not reviewed unknown Array rs17115182 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - 3 - 1 N - - KRT1 Lys633Arg K633R not reviewed Insufficiently evaluated not reviewed unknown Array rs14024 2366 10758 0.219929 22 0 30 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 1 - - KRT1 Ser557Gly S557G not reviewed Insufficiently evaluated not reviewed unknown Array rs66529359 2034 9104 0.223418 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - KRT1 Ala454Ser A454S not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 1 - - KRT10 Ser508Arg S508R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KRT10 His487Tyr H487Y not reviewed Insufficiently evaluated not reviewed unknown Array 2069 2460 0.841057 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - KRT10 Gly126Ser G126S not reviewed Insufficiently evaluated not reviewed unknown Array rs77919366 1972 10756 0.18334 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - KRT10 Ile101Ser I101S not reviewed Insufficiently evaluated not reviewed unknown Array rs4261597 10742 10758 0.998513 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - KRT12 Arg468Gln R468Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - KRT12 Arg20Trp R20W not reviewed Insufficiently evaluated not reviewed unknown Array rs17566772 696 10758 0.064696 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRT12 Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array rs11650915 2878 10758 0.267522 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRT13 Thr298Ala T298A not reviewed Insufficiently evaluated not reviewed unknown Array rs4796697 9824 10758 0.913181 54 0 99 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - KRT13 Arg213Trp R213W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - KRT13 Ala187Val A187V not reviewed Insufficiently evaluated not reviewed unknown Array rs9891361 7440 10758 0.691578 42 0 75 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - KRT13 Ala146Gly A146G not reviewed Insufficiently evaluated not reviewed unknown Array rs760134 810 10758 0.0752928 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 1 - - KRT14 Ala413Thr A413T benign Insufficiently evaluated benign dominant Array rs59780231 85 10754 0.00790404 2 0 2 2 2 - - - - - - - - - - - - Y - - - 0.008 Y Y 1 - 3 - 5 - - Found in one Taiwanese individual with Epidermolysis bullosa simplex (onset 4-5yo), but later reported with a control allelic frequency of 0.11. KRT14 Ala94Thr A94T not reviewed Insufficiently evaluated not reviewed unknown Array rs3826550 4735 10756 0.440219 30 0 36 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - KRT14 Cys63Tyr C63Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11551758 10543 10614 0.993311 39 0 48 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - KRT15 Ala421Gly A421G not reviewed Insufficiently evaluated not reviewed unknown Array rs897420 10452 10758 0.971556 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT15 Lys416Arg K416R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305556 2368 10758 0.220115 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - KRT15 Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.267 - - 0 - 1 N - - KRT15 Thr147Ala T147A not reviewed Insufficiently evaluated not reviewed unknown Array rs1050784 6640 10758 0.617215 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - KRT15 Gly32Glu G32E not reviewed Insufficiently evaluated not reviewed unknown Array rs73294423 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRT16 Arg418Cys R418C not reviewed Insufficiently evaluated not reviewed unknown Array rs56259134 55 10758 0.00511247 4 0 3 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - KRT16 Arg41Cys R41C not reviewed Insufficiently evaluated not reviewed unknown Array 174 10602 0.016412 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 8 Y 5 - 1 - - KRT17 Glu223Lys E223K not reviewed Insufficiently evaluated not reviewed unknown Array 298 10750 0.0277209 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.196 Y Y 0 - 3 - 1 - - KRT17 Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9392 0.00031942 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.65 Y Y 8 Y 3 N - - KRT19 Ala60Gly A60G not reviewed Insufficiently evaluated not reviewed unknown Array rs4602 46 64 0.71875 23 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT2 Gly219Asp G219D not reviewed Insufficiently evaluated not reviewed unknown Array rs638043 1176 10758 0.109314 13 0 13 0 0 1 Y - - - - - - - - - - Y - - - 0.698 Y - 4 Y 1 N - - KRT2 Gly114Ser G114S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10732 0.00242266 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - KRT2 Ser106Asn S106N not reviewed Insufficiently evaluated not reviewed unknown Array 86 10698 0.00803888 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - KRT2 Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array rs2634041 2846 10718 0.265535 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - KRT20 Val413Met V413M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT20 Ser129Asn S129N not reviewed Insufficiently evaluated not reviewed unknown Array rs7212483 1420 10758 0.131995 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KRT23 Thr303Ala T303A not reviewed Insufficiently evaluated not reviewed unknown Array rs9257 4900 10758 0.455475 46 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KRT23 Val34Ile V34I not reviewed Insufficiently evaluated not reviewed unknown Array rs2269859 96 10730 0.00894688 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.728 - - -4 - 1 N - - KRT24 Lys429Glu K429E not reviewed Insufficiently evaluated not reviewed unknown Array rs2462961 5234 10758 0.486522 37 0 47 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KRT24 Trp418Arg W418R not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KRT24 Cys415Tyr C415Y not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - KRT24 Met267Ile M267I not reviewed Insufficiently evaluated not reviewed unknown Array rs874889 4071 10758 0.378416 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.637 - - -1 - 0 N - - KRT24 Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array rs9914185 117 10758 0.0108756 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - KRT25 Arg267His R267H not reviewed Insufficiently evaluated not reviewed unknown Array rs72821893 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - KRT25 Gly66Ala G66A not reviewed Insufficiently evaluated not reviewed unknown Array rs35076248 1549 10758 0.143986 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - KRT25 Ser54Leu S54L not reviewed Insufficiently evaluated not reviewed unknown Array rs12951399 3219 10758 0.299219 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - KRT26 Trp118Arg W118R not reviewed Insufficiently evaluated not reviewed unknown Array rs9898164 1408 10758 0.130879 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRT26 Lys116Arg K116R not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KRT26 Ser37Stop S37X not reviewed Insufficiently evaluated not reviewed unknown Array rs62621360 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - KRT27 Ser415Ala S415A not reviewed Insufficiently evaluated not reviewed unknown Array rs62622790 430 10758 0.0399703 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - KRT27 Ile305Thr I305T not reviewed Insufficiently evaluated not reviewed unknown Array rs981684 5559 10758 0.516732 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRT27 Ala284Thr A284T not reviewed Insufficiently evaluated not reviewed unknown Array rs17558532 1847 10758 0.171686 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT27 Arg273Lys R273K not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - KRT27 Gly193Ser G193S not reviewed Insufficiently evaluated not reviewed unknown Array rs17558560 3611 10758 0.335657 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT27 Glu144Lys E144K not reviewed Insufficiently evaluated not reviewed unknown Array rs12453124 1344 10758 0.12493 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - KRT27 Ser52Thr S52T not reviewed Insufficiently evaluated not reviewed unknown Array rs2469826 3203 10758 0.297732 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.463 - - -2 - 0 N - - KRT27 Ser2Pro S2P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 1 - - KRT28 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - KRT28 Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array rs4624233 2363 10758 0.21965 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT28 Gly52Asp G52D not reviewed Insufficiently evaluated not reviewed unknown Array rs7209228 1680 10758 0.156163 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - KRT3 Glu433Lys E433K not reviewed Insufficiently evaluated not reviewed unknown Array rs61929765 974 10756 0.0905541 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.729 - - 0 - 0 N - - KRT3 Arg375Gly R375G not reviewed Insufficiently evaluated not reviewed unknown Array rs3887954 6267 10756 0.582652 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 1 N - - KRT3 Gly44Ala G44A not reviewed Insufficiently evaluated not reviewed unknown Array rs28721426 2221 10756 0.206489 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT31 Ala234Val A234V not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT32 Arg428Cys R428C not reviewed Insufficiently evaluated not reviewed unknown Array rs9893787 234 10754 0.0217593 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - KRT32 Pro427Thr P427T not reviewed Insufficiently evaluated not reviewed unknown Array rs2604953 9556 10754 0.8886 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRT32 Asn402Ser N402S not reviewed Insufficiently evaluated not reviewed unknown Array rs70964671 6724 10758 0.625023 52 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRT32 Thr395Met T395M not reviewed Insufficiently evaluated not reviewed unknown Array rs2071563 4168 10758 0.387433 39 0 50 0 0 - - - - - - - - - - - - - - - - 0.782 - - 2 - 0 N - - KRT32 Arg369Gln R369Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11078993 567 10758 0.052705 12 0 12 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - KRT32 Thr339Met T339M not reviewed Insufficiently evaluated not reviewed unknown Array rs16966929 50 10758 0.0046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 1 - 3 - - KRT32 Arg317Cys R317C not reviewed Insufficiently evaluated not reviewed unknown Array rs57682233 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.377 - - 8 Y 1 N - - KRT32 Arg280His R280H not reviewed Insufficiently evaluated not reviewed unknown Array rs72830046 2474 10758 0.229968 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.041 - - 1 - 0 N - - KRT32 Arg280Cys R280C not reviewed Insufficiently evaluated not reviewed unknown Array rs73983451 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - KRT32 Ser222Tyr S222Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2071561 4596 10758 0.427217 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 1 N - - KRT32 Gln72Arg Q72R not reviewed Insufficiently evaluated not reviewed unknown Array rs3744786 3058 10758 0.284254 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRT33A Ala270Val A270V not reviewed Insufficiently evaluated not reviewed unknown Array rs12937519 3268 10758 0.303774 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT33B Arg329His R329H not reviewed Insufficiently evaluated not reviewed unknown Array 177 10730 0.0164958 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 1 - - KRT33B Tyr294Asp Y294D not reviewed Insufficiently evaluated not reviewed unknown Array rs71373411 1744 10740 0.162384 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRT33B Ala270Val A270V not reviewed Insufficiently evaluated not reviewed unknown Array rs57740817 82 10740 0.00763501 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT33B Gln223Arg Q223R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741663 206 10738 0.0191842 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT34 Arg390Trp R390W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.716 - - 7 Y 1 N - - KRT34 His348Arg H348R not reviewed Insufficiently evaluated not reviewed unknown Array rs2071599 2109 10758 0.19604 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT34 Glu295Lys E295K not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - KRT34 Ile280Thr I280T not reviewed Insufficiently evaluated not reviewed unknown Array rs2239710 7990 10758 0.742703 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRT34 Glu165Gln E165Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - KRT35 Pro443Ala P443A not reviewed Insufficiently evaluated not reviewed unknown Array rs2071601 5554 9774 0.568242 44 0 62 0 0 - - - - - - - - - - - - - - - - 0.913 - - 2 - 1 N - - KRT35 Cys441Tyr C441Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12451652 1393 9822 0.141824 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.066 - - 6 Y 0 N - - KRT35 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - KRT35 Ser36Pro S36P not reviewed Insufficiently evaluated not reviewed unknown Array rs743686 6131 10174 0.602615 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 1 N - - KRT36 Asn357Thr N357T not reviewed Insufficiently evaluated not reviewed unknown Array rs11657323 2141 10758 0.199015 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - KRT36 Thr315Met T315M not reviewed Insufficiently evaluated not reviewed unknown Array rs2301354 5403 10756 0.502324 40 0 52 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - KRT36 Ala282Asp A282D not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRT36 Arg277Cys R277C not reviewed Insufficiently evaluated not reviewed unknown Array rs9904102 43 10758 0.00399703 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 3 - 4 - - KRT36 Arg179Gln R179Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9675246 302 10758 0.0280721 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - KRT36 Gln126Arg Q126R not reviewed Insufficiently evaluated not reviewed unknown Array rs8069943 322 10758 0.0299312 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT36 Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array rs8082683 321 10758 0.0298383 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT37 Thr422Met T422M not reviewed Insufficiently evaluated not reviewed unknown Array rs8071814 759 10758 0.0705521 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 0 N - - KRT37 Arg382Leu R382L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - KRT37 Gln361Stop Q361X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT37 Ala306Asp A306D not reviewed Insufficiently evaluated not reviewed unknown Array rs2071607 1449 10758 0.13469 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - KRT37 Gln235Stop Q235X not reviewed Insufficiently evaluated not reviewed unknown Array 1408 10754 0.130928 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - KRT37 Ala217Val A217V not reviewed Insufficiently evaluated not reviewed unknown Array rs16966811 1457 10758 0.135434 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT37 Ser73Cys S73C not reviewed Insufficiently evaluated not reviewed unknown Array rs9916475 4268 10758 0.396728 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRT37 Thr72Ala T72A not reviewed Insufficiently evaluated not reviewed unknown Array rs9916484 4266 10758 0.396542 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - KRT37 Asn39Ser N39S not reviewed Insufficiently evaluated not reviewed unknown Array rs9916724 4262 10758 0.39617 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KRT37 Gly13Cys G13C not reviewed Insufficiently evaluated not reviewed unknown Array rs9910204 2815 10758 0.261666 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.249 - - 7 Y 0 N - - KRT38 Gly438Asp G438D not reviewed Insufficiently evaluated not reviewed unknown Array 74 10756 0.00687988 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT38 Ser423Pro S423P not reviewed Insufficiently evaluated not reviewed unknown Array rs897416 9809 10758 0.911787 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRT38 Arg288His R288H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT38 Ala170Asp A170D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRT39 Arg456Gln R456Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7213256 2883 10750 0.268186 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.543 - - 0 - 0 N - - KRT39 Leu383Met L383M not reviewed Insufficiently evaluated not reviewed unknown Array rs17843023 324 10750 0.0301395 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - KRT39 Thr341Met T341M not reviewed Insufficiently evaluated not reviewed unknown Array rs17843021 1428 10750 0.132837 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.158 - - 2 - 0 N - - KRT4 Gln230Arg Q230R not reviewed Insufficiently evaluated not reviewed unknown Array rs7959052 3072 10442 0.294197 26 0 36 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - KRT4 Gly161Ala G161A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - KRT4 Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array rs2638525 2461 10376 0.237182 16 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - KRT40 Ser406Leu S406L not reviewed Insufficiently evaluated not reviewed unknown Array rs16968862 1500 9872 0.151945 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - KRT40 Trp390Arg W390R not reviewed Insufficiently evaluated not reviewed unknown Array rs8064733 4292 10748 0.39933 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRT40 Thr388Met T388M not reviewed Insufficiently evaluated not reviewed unknown Array rs11649834 1036 10750 0.0963721 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.782 - - 2 - 0 N - - KRT40 Met303Thr M303T not reviewed Insufficiently evaluated not reviewed unknown Array rs9908389 3838 10214 0.375759 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT40 Glu286Asp E286D not reviewed Insufficiently evaluated not reviewed unknown Array rs721958 3720 9994 0.372223 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.971 - - -2 - 1 N - - KRT40 Cys265Tyr C265Y not reviewed Insufficiently evaluated not reviewed unknown Array rs721957 6423 10248 0.626756 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRT40 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array rs2010027 3794 10174 0.372911 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - KRT40 Thr153Met T153M not reviewed Insufficiently evaluated not reviewed unknown Array rs9908304 3576 9580 0.373278 35 0 45 0 0 - - - - - - - - - - - - - - - - 0.872 - - 2 - 1 N - - KRT40 Ser102Asn S102N not reviewed Insufficiently evaluated not reviewed unknown Array rs1510068 4173 10746 0.388331 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KRT40 Phe85Ser F85S not reviewed Insufficiently evaluated not reviewed unknown Array rs17843015 1306 10722 0.121806 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.05 - - 5 Y 0 N - - KRT40 Thr37Ala T37A not reviewed Insufficiently evaluated not reviewed unknown Array rs1510069 3891 10352 0.375869 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KRT5 Gly543Ser G543S not reviewed Insufficiently evaluated not reviewed unknown Array rs11549949 1630 10752 0.1516 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - KRT5 Ser528Gly S528G not reviewed Insufficiently evaluated not reviewed unknown Array rs11549950 1866 10756 0.173485 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 3 - - KRT5 Asp197Glu D197E not reviewed Insufficiently evaluated not reviewed unknown Array rs641615 806 10750 0.0749767 21 0 26 0 0 1 Y - - - - - - - - - - Y - - - 0.005 Y Y -2 - 3 - 2 - - KRT5 Gly138Glu G138E pathogenic Low clinical importance, Likely pathogenic undefined Array rs11170164 561 10758 0.0521472 1 0 1 1 1 1 Y - - 4 Y 0 Y 2 Y 1 Y Y - - - 0.932 Y Y 6 Y 4 - 8 0 1 This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant). KRT6A Thr552Ser T552S not reviewed Insufficiently evaluated not reviewed unknown Array rs11540301 950 10758 0.0883064 11 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - KRT6A Val523Phe V523F not reviewed Insufficiently evaluated not reviewed unknown Array rs62617088 767 10758 0.0712958 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - KRT6A Asn21Ser N21S not reviewed Insufficiently evaluated not reviewed unknown Array rs17845411 2879 10732 0.268263 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - KRT6B Ile365Val I365V not reviewed Insufficiently evaluated not reviewed unknown Array rs17099476 3228 10742 0.300503 40 0 60 0 0 3 Y - - - - - - - - - - Y - - - 0.003 Y Y -4 - 2 N - - KRT6B Asn227Ser N227S not reviewed Insufficiently evaluated not reviewed unknown Array rs3194286 3475 10758 0.323015 28 0 30 0 0 3 Y - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - KRT6B Ser143Asn S143N not reviewed Insufficiently evaluated not reviewed unknown Array 2135 10752 0.198568 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 0 - 3 - 2 - - KRT6B Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array 1536 10194 0.150677 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - KRT6B Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 203 8488 0.0239161 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - KRT6B Asn21Ser N21S not reviewed Insufficiently evaluated not reviewed unknown Array rs428894 5687 10626 0.535197 7 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - KRT6C Gly538Ala G538A not reviewed Insufficiently evaluated not reviewed unknown Array 273 10754 0.0253859 1 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - KRT6C Val481Ile V481I not reviewed Insufficiently evaluated not reviewed unknown Array rs412533 2908 10758 0.27031 21 0 29 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 0 N - - KRT6C Ser227Asn S227N not reviewed Insufficiently evaluated not reviewed unknown Array rs17099602 769 10702 0.0718557 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.02 - - 0 - 1 - 2 - - KRT6C Arg182Gln R182Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11608915 4230 10516 0.402244 22 0 29 0 0 - - - - - - - - - - - - Y - - - 0.805 - - 0 - 0 N - - KRT6C Ser143Asn S143N not reviewed Insufficiently evaluated not reviewed unknown Array 1348 9850 0.136853 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.02 - - 0 - 1 - 2 - - KRT6C Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array rs394598 204 7452 0.0273752 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - KRT6C Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 472 4668 0.101114 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 0 N - - KRT7 His186Arg H186R not reviewed Insufficiently evaluated not reviewed unknown Array rs6580870 9047 10758 0.840956 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT7 Gly364Ala G364A not reviewed Insufficiently evaluated not reviewed unknown Array rs2608009 9167 10758 0.85211 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT71 Arg523Gln R523Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2292506 1146 10758 0.106525 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - KRT71 Val464Gly V464G not reviewed Insufficiently evaluated not reviewed unknown Array rs10783518 3758 10646 0.352996 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRT71 Tyr245Phe Y245F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - KRT71 Glu122Lys E122K not reviewed Insufficiently evaluated not reviewed unknown Array rs665470 2771 10758 0.257576 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - KRT71 Val107Ile V107I not reviewed Insufficiently evaluated not reviewed unknown Array rs665522 2772 10758 0.257669 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KRT71 Ala13Thr A13T not reviewed Insufficiently evaluated not reviewed unknown Array rs74095123 160 10748 0.0148865 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - KRT72 Ala427Thr A427T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT72 Ala469Thr A469T not reviewed Insufficiently evaluated not reviewed unknown Array rs34119325 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT72 Arg386Leu R386L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 6 Y 2 N - - KRT72 Arg428Leu R428L not reviewed Insufficiently evaluated not reviewed unknown Array rs11170183 2323 10758 0.215932 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.043 - - 6 Y 0 N - - KRT72 Arg363Trp R363W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT72 Arg405Trp R405W not reviewed Insufficiently evaluated not reviewed unknown Array rs61740861 50 10758 0.0046477 8 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KRT72 Asp324Glu D324E not reviewed Insufficiently evaluated not reviewed unknown Array rs7310138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRT72 Asp366Glu D366E not reviewed Insufficiently evaluated not reviewed unknown Array rs7310138 2113 10758 0.196412 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - KRT72 Gln326Glu Q326E not reviewed Insufficiently evaluated not reviewed unknown Array rs34769047 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 3 - 1 - - KRT72 Arg300Cys R300C not reviewed Insufficiently evaluated not reviewed unknown Array rs73320351 229 10758 0.0212865 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRT72 Tyr264Cys Y264C not reviewed Insufficiently evaluated not reviewed unknown Array rs12833456 3665 10758 0.340677 32 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - KRT72 Asn171Asp N171D not reviewed Insufficiently evaluated not reviewed unknown Array rs11170187 3666 10758 0.34077 32 0 38 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - KRT72 Gln161Stop Q161X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT72 Met114Thr M114T not reviewed Insufficiently evaluated not reviewed unknown Array rs56207115 947 10758 0.0880275 16 0 15 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 0 N - - KRT72 Gly73Ser G73S not reviewed Insufficiently evaluated not reviewed unknown Array rs57242225 811 10526 0.0770473 17 0 16 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - KRT73 Thr376Met T376M not reviewed Insufficiently evaluated not reviewed unknown Array rs7302968 1374 10758 0.127719 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KRT73 Val61Met V61M not reviewed Insufficiently evaluated not reviewed unknown Array rs35417182 915 10758 0.085053 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRT74 Glu424Lys E424K not reviewed Insufficiently evaluated not reviewed unknown Array rs57711382 188 10758 0.0174754 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - KRT74 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57387512 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - KRT74 Glu271Asp E271D not reviewed Insufficiently evaluated not reviewed unknown Array rs670741 8836 10758 0.821342 54 0 90 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - KRT74 Asp225Val D225V not reviewed Insufficiently evaluated not reviewed unknown Array rs73320318 639 10758 0.0593977 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 1 N - - KRT74 Leu178Gln L178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11170176 1896 10758 0.176241 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KRT74 Asn165Lys N165K not reviewed Insufficiently evaluated not reviewed unknown Array rs11170177 421 10758 0.0391337 6 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KRT74 Asp149Asn D149N not reviewed Insufficiently evaluated not reviewed unknown Array rs73107581 436 10758 0.040528 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRT75 Arg527Gln R527Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730614 1582 10758 0.147053 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRT75 Ser485Arg S485R not reviewed Insufficiently evaluated not reviewed unknown Array rs298104 6983 10758 0.649098 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRT75 Arg432Cys R432C not reviewed Insufficiently evaluated not reviewed unknown Array rs2232406 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 8 Y 2 - 1 - - KRT75 Met427Thr M427T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232405 325 10758 0.0302101 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KRT75 Ile367Val I367V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232402 309 10758 0.0287228 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.972 - - -4 - 2 N - - KRT75 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232387 1442 10758 0.13404 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - KRT75 Pro117Ala P117A not reviewed Insufficiently evaluated not reviewed unknown Array rs2232386 1094 10758 0.101692 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.662 - - 2 - 0 N - - KRT75 Arg91Gly R91G not reviewed Insufficiently evaluated not reviewed unknown Array rs298109 6551 10758 0.608942 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRT76 Thr629Met T629M not reviewed Insufficiently evaluated not reviewed unknown Array rs2280480 2133 10758 0.198271 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT76 Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array rs6580904 7565 10758 0.703198 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT76 Glu356Lys E356K not reviewed Insufficiently evaluated not reviewed unknown Array rs12296548 1274 10758 0.118423 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - KRT76 Ala283Thr A283T not reviewed Insufficiently evaluated not reviewed unknown Array rs11170271 2108 10758 0.195947 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 1 N - - KRT76 Val160Ile V160I not reviewed Insufficiently evaluated not reviewed unknown Array rs61730599 523 10758 0.048615 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - KRT77 Arg533Gly R533G not reviewed Insufficiently evaluated not reviewed unknown Array rs636127 9428 10308 0.914629 52 0 100 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRT77 Ala420Ser A420S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRT77 Thr367Met T367M not reviewed Insufficiently evaluated not reviewed unknown Array rs3782489 4149 10708 0.387467 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT77 Asp336Asn D336N not reviewed Insufficiently evaluated not reviewed unknown Array rs10783528 3113 10758 0.289366 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KRT77 Ser322Phe S322F not reviewed Insufficiently evaluated not reviewed unknown Array rs585664 345 10758 0.0320692 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRT77 Gly220Cys G220C not reviewed Insufficiently evaluated not reviewed unknown Array rs1567759 4641 10758 0.4314 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRT77 Arg183Gln R183Q not reviewed Insufficiently evaluated not reviewed unknown Array rs668313 330 10758 0.0306748 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT77 Gly109Arg G109R not reviewed Insufficiently evaluated not reviewed unknown Array 337 10758 0.0313255 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRT77 Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array rs17118224 353 10758 0.0328128 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT78 Thr306Ile T306I not reviewed Insufficiently evaluated not reviewed unknown Array rs61764062 320 10758 0.0297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 3 - 2 N - - KRT78 Ala293Thr A293T not reviewed Insufficiently evaluated not reviewed unknown Array rs61764061 856 10758 0.0795687 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - KRT78 Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array rs10876360 1463 10758 0.135992 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT78 Ala164Val A164V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - KRT78 Leu92Pro L92P not reviewed Insufficiently evaluated not reviewed unknown Array rs2013335 5186 10758 0.48206 37 0 52 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 1 N - - KRT78 Gly46Arg G46R not reviewed Insufficiently evaluated not reviewed unknown Array 872 10756 0.081071 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 0 N - - KRT78 Arg25His R25H not reviewed Insufficiently evaluated not reviewed unknown Array rs11170289 960 10756 0.0892525 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRT79 Thr527Met T527M not reviewed Insufficiently evaluated not reviewed unknown Array rs73303800 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.901 - - 2 - 2 N - - KRT79 Lys406Arg K406R not reviewed Insufficiently evaluated not reviewed unknown Array rs73102423 691 10758 0.0642313 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - KRT79 Ala393Val A393V not reviewed Insufficiently evaluated not reviewed unknown Array rs17688627 1510 10758 0.140361 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.624 - - 2 - 0 N - - KRT79 Leu81Ser L81S not reviewed Insufficiently evaluated not reviewed unknown Array rs2638497 6988 10752 0.649926 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRT8 Thr455Ala T455A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9732 0.000513769 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - KRT80 Ser445Leu S445L not reviewed Insufficiently evaluated not reviewed unknown Array rs74095220 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 1 N - - KRT81 Ala462Val A462V not reviewed Insufficiently evaluated not reviewed unknown Array rs74095618 220 10464 0.0210245 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - KRT81 Thr333Met T333M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - KRT81 Arg316Cys R316C not reviewed Insufficiently evaluated not reviewed unknown Array rs4761786 65 10750 0.00604651 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 4 - 2 - - KRT81 Leu248Arg L248R not reviewed Insufficiently evaluated not reviewed unknown Array rs6580873 9411 10758 0.874791 54 0 104 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - KRT81 Ser13Arg S13R not reviewed Insufficiently evaluated not reviewed unknown Array 735 10572 0.0695233 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.831 Y - 3 - 1 N - - KRT82 Thr458Met T458M not reviewed Insufficiently evaluated not reviewed unknown Array rs2658658 4713 10758 0.438093 30 0 38 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 1 N - - KRT82 Glu452Asp E452D not reviewed Insufficiently evaluated not reviewed unknown Array rs1732263 962 10758 0.0894218 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 0 N - - KRT82 Ser89Tyr S89Y not reviewed Insufficiently evaluated not reviewed unknown Array rs59612842 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 1 N - - KRT83 His493Tyr H493Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2857671 8019 10678 0.750983 51 0 80 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - KRT83 Ile279Met I279M not reviewed Insufficiently evaluated not reviewed unknown Array rs2852464 4405 10758 0.409463 37 0 45 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - KRT83 Glu202Val E202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - KRT83 Glu200Asp E200D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - KRT83 Arg149Cys R149C not reviewed Insufficiently evaluated not reviewed unknown Array rs2857663 1329 10758 0.123536 14 0 14 0 0 3 Y - - - - - - - - - - Y - - - - Y - 8 Y 2 - 1 - - KRT83 Cys23Gly C23G not reviewed Insufficiently evaluated not reviewed unknown Array rs61485872 123 10752 0.0114397 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - KRT84 Cys446Arg C446R not reviewed Insufficiently evaluated not reviewed unknown Array rs951773 8769 10758 0.815114 35 0 61 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRT84 Arg234Trp R234W not reviewed Insufficiently evaluated not reviewed unknown Array rs60333022 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KRT84 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array rs2245203 3550 10758 0.329987 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KRT84 Ser198Asn S198N not reviewed Insufficiently evaluated not reviewed unknown Array rs1732301 403 10758 0.0374605 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - KRT84 Arg184Gln R184Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1613931 2812 10758 0.261387 29 0 28 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - KRT84 Arg4Cys R4C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - KRT85 Arg78His R78H benign Low clinical importance, Uncertain benign recessive Array rs61630004 456 10738 0.042466 3 0 3 2 2 ! Y - - 4 Y ! Y - - - - - Y - - 0.99 - - 1 - 4 N 5 0 0 Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect. KRT86 Asp214Gly D214G not reviewed Insufficiently evaluated not reviewed unknown Array rs56677856 162 10758 0.0150586 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - 4 Y 1 N - - KRTAP1-1 Gln51Stop Q51X not reviewed Insufficiently evaluated not reviewed unknown Array rs3213755 1694 10188 0.166274 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - KRTAP1-3 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array rs62622849 564 10044 0.0561529 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP1-3 Cys56Arg C56R not reviewed Insufficiently evaluated not reviewed unknown Array 61 9974 0.0061159 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP1-5 Thr52Ala T52A not reviewed Insufficiently evaluated not reviewed unknown Array 569 10150 0.0560591 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP10-1 Pro280Leu P280L not reviewed Insufficiently evaluated not reviewed unknown Array rs233316 7235 10446 0.69261 18 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRTAP10-1 Arg241Gln R241Q not reviewed Insufficiently evaluated not reviewed unknown Array rs233317 8903 10758 0.82757 34 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP10-1 Asp159Glu D159E not reviewed Insufficiently evaluated not reviewed unknown Array 1521 10758 0.141383 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRTAP10-1 Asp159Ala D159A not reviewed Insufficiently evaluated not reviewed unknown Array 1635 10758 0.15198 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KRTAP10-1 Asp159Tyr D159Y not reviewed Insufficiently evaluated not reviewed unknown Array 3854 10758 0.358245 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRTAP10-1 Val101Met V101M not reviewed Insufficiently evaluated not reviewed unknown Array rs233319 7106 10702 0.663988 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP10-1 Pro39Leu P39L not reviewed Insufficiently evaluated not reviewed unknown Array rs233320 7392 10722 0.689424 43 0 63 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - KRTAP10-1 Cys9Arg C9R not reviewed Insufficiently evaluated not reviewed unknown Array rs11910629 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 8 Y 3 - 1 - - KRTAP10-1 Val8Ile V8I not reviewed Insufficiently evaluated not reviewed unknown Array rs11910525 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - -4 - 1 - 1 - - KRTAP10-10 Val20Asp V20D not reviewed Insufficiently evaluated not reviewed unknown Array rs2838602 8246 10758 0.766499 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP10-10 Cys30Ser C30S not reviewed Insufficiently evaluated not reviewed unknown Array rs112205018 2257 10756 0.209836 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.616 - - 3 - 0 N - - KRTAP10-10 Thr72Pro T72P not reviewed Insufficiently evaluated not reviewed unknown Array rs4818947 8287 10758 0.77031 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRTAP10-10 Pro82Leu P82L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - KRTAP10-10 Asp83Ala D83A not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP10-10 Thr86Ser T86S not reviewed Insufficiently evaluated not reviewed unknown Array rs9306109 1504 10758 0.139803 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.366 - - -2 - 0 N - - KRTAP10-10 Val98Ala V98A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 2 - 1 N - - KRTAP10-10 Val116Met V116M not reviewed Insufficiently evaluated not reviewed unknown Array rs60500206 64 10758 0.00594906 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KRTAP10-10 Cys126Ser C126S not reviewed Insufficiently evaluated not reviewed unknown Array rs4818948 3430 10758 0.318832 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - KRTAP10-10 Gln129Pro Q129P not reviewed Insufficiently evaluated not reviewed unknown Array rs4818949 3426 10758 0.318461 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 1 N - - KRTAP10-10 Val158Met V158M not reviewed Insufficiently evaluated not reviewed unknown Array rs4818950 6461 10758 0.600576 32 0 49 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - KRTAP10-10 Val206Ile V206I not reviewed Insufficiently evaluated not reviewed unknown Array rs7280841 251 10758 0.0233315 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - KRTAP10-10 Arg237Cys R237C not reviewed Insufficiently evaluated not reviewed unknown Array 329 10752 0.030599 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 8 Y 0 N - - KRTAP10-11 Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-11 Ala40Val A40V not reviewed Insufficiently evaluated not reviewed unknown Array rs73909206 177 10450 0.0169378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP10-11 Ser130Phe S130F not reviewed Insufficiently evaluated not reviewed unknown Array rs4818952 8327 10758 0.774029 26 0 40 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KRTAP10-11 Cys221Arg C221R not reviewed Insufficiently evaluated not reviewed unknown Array 353 10758 0.0328128 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP10-11 Ser265Pro S265P not reviewed Insufficiently evaluated not reviewed unknown Array 181 10734 0.0168623 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-11 Arg269Cys R269C not reviewed Insufficiently evaluated not reviewed unknown Array rs462007 9079 10744 0.84503 28 0 50 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP10-11 Pro270Leu P270L not reviewed Insufficiently evaluated not reviewed unknown Array 258 10738 0.0240268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP10-11 Val274Met V274M not reviewed Insufficiently evaluated not reviewed unknown Array 147 10732 0.0136974 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-11 Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array rs73909210 404 10712 0.0377147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP10-12 Gly226Ser G226S not reviewed Insufficiently evaluated not reviewed unknown Array rs34302939 2721 10564 0.257573 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP10-12 Cys236Tyr C236Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61745911 1162 10406 0.111666 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP10-2 Pro190Ser P190S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-2 Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array rs2329834 6239 10758 0.57994 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRTAP10-2 Ala117Pro A117P not reviewed Insufficiently evaluated not reviewed unknown Array rs233239 2277 10758 0.211656 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP10-2 Pro107Thr P107T not reviewed Insufficiently evaluated not reviewed unknown Array rs478967 2251 10756 0.209279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRTAP10-2 Ser78Leu S78L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10746 0.00223339 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP10-2 Asn15Asp N15D not reviewed Insufficiently evaluated not reviewed unknown Array rs233240 2076 10758 0.192973 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.095 - - -1 - 0 N - - KRTAP10-2 Ala3Thr A3T not reviewed Insufficiently evaluated not reviewed unknown Array rs28584336 397 10758 0.0369028 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - KRTAP10-3 Cys170Tyr C170Y not reviewed Insufficiently evaluated not reviewed unknown Array rs233252 10023 10758 0.931679 21 0 35 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - KRTAP10-3 Arg142Pro R142P not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP10-3 Thr34Pro T34P not reviewed Insufficiently evaluated not reviewed unknown Array rs377549 9783 10526 0.929413 34 0 57 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRTAP10-3 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10730 0.00726934 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP10-3 Thr3Met T3M not reviewed Insufficiently evaluated not reviewed unknown Array 1893 10758 0.175962 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP10-3 Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array rs452472 2962 10758 0.27533 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP10-4 Ser11Gly S11G not reviewed Insufficiently evaluated not reviewed unknown Array rs9977039 272 10644 0.0255543 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.034 - - 2 - 0 N - - KRTAP10-4 Val14Ile V14I not reviewed Insufficiently evaluated not reviewed unknown Array rs9976062 104 10616 0.00979653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.161 - - -4 - 0 N - - KRTAP10-4 Asp31Ala D31A not reviewed Insufficiently evaluated not reviewed unknown Array 315 10288 0.0306182 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - KRTAP10-4 Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array rs233285 6766 10198 0.663463 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - KRTAP10-4 Pro69Arg P69R not reviewed Insufficiently evaluated not reviewed unknown Array rs1211104 1026 10190 0.100687 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - KRTAP10-4 Cys119Arg C119R not reviewed Insufficiently evaluated not reviewed unknown Array 440 10748 0.0409378 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP10-4 Ile159Val I159V not reviewed Insufficiently evaluated not reviewed unknown Array 772 10342 0.0746471 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KRTAP10-4 Cys234Gly C234G not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP10-4 Gly285Cys G285C not reviewed Insufficiently evaluated not reviewed unknown Array rs396912 1521 10758 0.141383 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRTAP10-5 Arg268Pro R268P not reviewed Insufficiently evaluated not reviewed unknown Array rs464391 417 10574 0.0394364 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - KRTAP10-5 Tyr247Cys Y247C not reviewed Insufficiently evaluated not reviewed unknown Array rs7509970 902 10742 0.0839695 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP10-5 Ser245Ala S245A not reviewed Insufficiently evaluated not reviewed unknown Array 85 10742 0.00791286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRTAP10-5 Val235Leu V235L not reviewed Insufficiently evaluated not reviewed unknown Array rs464424 712 10756 0.0661956 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP10-5 Val221Glu V221E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP10-5 Pro207Leu P207L not reviewed Insufficiently evaluated not reviewed unknown Array rs73381224 407 10758 0.0378323 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP10-5 Val191Ile V191I not reviewed Insufficiently evaluated not reviewed unknown Array rs73381228 412 10758 0.0382971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRTAP10-5 Phe183Cys F183C not reviewed Insufficiently evaluated not reviewed unknown Array rs380585 1018 10758 0.0946273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRTAP10-5 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10738 0.00717079 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-5 Asp20Asn D20N not reviewed Insufficiently evaluated not reviewed unknown Array rs2020221 3211 10754 0.298587 29 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KRTAP10-5 Cys4Ser C4S not reviewed Insufficiently evaluated not reviewed unknown Array rs5017208 354 10758 0.0329057 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-6 Pro300Ser P300S not reviewed Insufficiently evaluated not reviewed unknown Array rs465279 6004 10752 0.558408 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - KRTAP10-6 Cys261Stop C261X not reviewed Insufficiently evaluated not reviewed unknown Array rs233303 2340 10758 0.217513 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - KRTAP10-6 Ala227Thr A227T not reviewed Insufficiently evaluated not reviewed unknown Array 846 10758 0.0786391 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP10-6 Ser127Pro S127P not reviewed Insufficiently evaluated not reviewed unknown Array 402 10142 0.0396372 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-6 Arg62His R62H not reviewed Insufficiently evaluated not reviewed unknown Array 3748 9864 0.379968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP10-6 Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array 3969 9838 0.403436 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP10-6 Gly16Ser G16S not reviewed Insufficiently evaluated not reviewed unknown Array 137 10528 0.0130129 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP10-7 Pro69Arg P69R not reviewed Insufficiently evaluated not reviewed unknown Array rs1211104 8171 9382 0.870923 25 0 48 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KRTAP10-7 Met111Val M111V not reviewed Insufficiently evaluated not reviewed unknown Array rs944419 9568 10692 0.894875 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP10-7 Ser130Cys S130C not reviewed Insufficiently evaluated not reviewed unknown Array rs233307 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-7 Gln215Lys Q215K not reviewed Insufficiently evaluated not reviewed unknown Array rs363877 8776 10750 0.816372 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRTAP10-7 Val267Met V267M not reviewed Insufficiently evaluated not reviewed unknown Array 266 10758 0.0247258 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-7 Ser285Thr S285T not reviewed Insufficiently evaluated not reviewed unknown Array rs446817 8829 10758 0.820692 9 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRTAP10-7 Thr320Ala T320A not reviewed Insufficiently evaluated not reviewed unknown Array rs369720 8650 10706 0.807958 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP10-8 His26Arg H26R not reviewed Insufficiently evaluated not reviewed unknown Array rs411254 10124 10758 0.941067 53 0 93 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - KRTAP10-9 Cys57Tyr C57Y not reviewed Insufficiently evaluated not reviewed unknown Array 292 10736 0.0271982 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP10-9 Tyr182Cys Y182C not reviewed Insufficiently evaluated not reviewed unknown Array rs8127342 6757 10758 0.628091 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP10-9 Gly214Ser G214S not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - KRTAP10-9 Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array rs9980129 6716 10740 0.625326 41 0 61 0 0 - - - - - - - - - - - - - - - - 0.015 - - 8 Y 0 N - - KRTAP10-9 Arg278Cys R278C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10720 0.00121269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KRTAP11-1 Cys111Ser C111S not reviewed Insufficiently evaluated not reviewed unknown Array rs9636845 716 10758 0.0665551 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - KRTAP11-1 Ser78Phe S78F not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - KRTAP11-1 Arg72Gln R72Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71321355 1807 10758 0.167968 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KRTAP12-1 Val34Met V34M not reviewed Insufficiently evaluated not reviewed unknown Array rs9984476 1449 10666 0.135852 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP12-1 Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array rs55881656 617 10594 0.0582405 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP12-2 Ser143Pro S143P not reviewed Insufficiently evaluated not reviewed unknown Array rs2838622 5635 10500 0.536667 38 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP12-2 Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array rs12481809 1749 10524 0.166192 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.138 - - -4 - 0 N - - KRTAP12-2 Ala116Val A116V not reviewed Insufficiently evaluated not reviewed unknown Array rs12483730 1750 10590 0.16525 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KRTAP12-2 Val106Met V106M not reviewed Insufficiently evaluated not reviewed unknown Array 415 10596 0.0391657 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.721 - - 0 - 1 N - - KRTAP12-2 Ser29Cys S29C not reviewed Insufficiently evaluated not reviewed unknown Array rs7275281 2449 10568 0.231737 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KRTAP12-2 Ser29Pro S29P not reviewed Insufficiently evaluated not reviewed unknown Array rs63164960 2428 10550 0.230142 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.793 - - 3 - 0 N - - KRTAP12-2 Ala16Val A16V not reviewed Insufficiently evaluated not reviewed unknown Array rs35163632 7958 10510 0.757184 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP12-2 Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array rs13046903 7935 10510 0.754995 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - KRTAP12-3 His17Arg H17R not reviewed Insufficiently evaluated not reviewed unknown Array rs9306111 8283 10646 0.778039 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP13-1 Gly27Ser G27S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 2 - 2 N - - KRTAP13-2 Cys135Stop C135X not reviewed Insufficiently evaluated not reviewed unknown Array rs877346 4261 10758 0.396077 31 0 34 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - KRTAP13-2 Ser74Arg S74R not reviewed Insufficiently evaluated not reviewed unknown Array rs3804010 1783 10758 0.165737 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - KRTAP13-4 Phe10Ile F10I not reviewed Insufficiently evaluated not reviewed unknown Array rs73899382 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KRTAP13-4 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array rs2226548 71 128 0.554688 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP13-4 Arg93His R93H not reviewed Insufficiently evaluated not reviewed unknown Array rs73899384 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KRTAP15-1 Leu43Met L43M not reviewed Insufficiently evaluated not reviewed unknown Array rs2832873 6488 10758 0.603086 46 0 60 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - KRTAP15-1 Pro124Leu P124L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP17-1 Gly47Asp G47D not reviewed Insufficiently evaluated not reviewed unknown Array 1287 10556 0.121921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRTAP19-2 Gly32Cys G32C not reviewed Insufficiently evaluated not reviewed unknown Array rs8131735 5 128 0.0390625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP19-4 Tyr48Cys Y48C not reviewed Insufficiently evaluated not reviewed unknown Array rs2298437 82 128 0.640625 48 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP19-6 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 326 10758 0.030303 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP19-7 Cys53Tyr C53Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP19-8 Ala61Thr A61T not reviewed Insufficiently evaluated not reviewed unknown Array rs7279142 582 10732 0.0542303 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP2-1 Phe10Leu F10L not reviewed Insufficiently evaluated not reviewed unknown Array rs6503578 570 3574 0.159485 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 1 N - - KRTAP2-4 Leu10Phe L10F not reviewed Insufficiently evaluated not reviewed unknown Array rs508285 417 6702 0.0622202 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP21-2 Cys9Ser C9S not reviewed Insufficiently evaluated not reviewed unknown Array rs12053674 24 128 0.1875 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP22-1 Leu26His L26H not reviewed Insufficiently evaluated not reviewed unknown Array rs198915 107 124 0.862903 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP24-1 Gly148Ser G148S not reviewed Insufficiently evaluated not reviewed unknown Array 615 9954 0.0617842 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 1 N - - KRTAP25-1 Ser40Pro S40P not reviewed Insufficiently evaluated not reviewed unknown Array rs8127420 1151 3234 0.355906 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.721 - - 3 - 0 N - - KRTAP26-1 Ser26Tyr S26Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3804007 1092 10758 0.101506 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 1 N - - KRTAP27-1 Ala99Val A99V not reviewed Insufficiently evaluated not reviewed unknown Array rs2244485 4287 10758 0.398494 31 0 34 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - KRTAP3-2 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array rs3813050 1775 10744 0.165208 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP3-2 Arg27Cys R27C not reviewed Insufficiently evaluated not reviewed unknown Array rs3829598 1416 10750 0.131721 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 - 2 - - KRTAP3-2 Ser8Gly S8G not reviewed Insufficiently evaluated not reviewed unknown Array rs9897046 2201 10750 0.204744 25 0 33 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KRTAP4-1 Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array rs398825 9881 10618 0.93059 9 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-1 His66Arg H66R not reviewed Insufficiently evaluated not reviewed unknown Array rs2320231 9822 10558 0.93029 22 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-1 Arg26Cys R26C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10720 0.00027985 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - KRTAP4-11 Arg17Gln R17Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9897031 2479 3234 0.766543 25 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP4-12 Cys152Arg C152R not reviewed Insufficiently evaluated not reviewed unknown Array 1543 10724 0.143883 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP4-12 Thr108Ser T108S not reviewed Insufficiently evaluated not reviewed unknown Array rs622950 1332 10698 0.124509 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRTAP4-2 Tyr95Cys Y95C not reviewed Insufficiently evaluated not reviewed unknown Array rs389784 10001 10746 0.930672 12 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP4-2 Gln67Stop Q67X not reviewed Insufficiently evaluated not reviewed unknown Array rs28457257 43 10748 0.00400074 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP4-2 Thr59Ser T59S not reviewed Insufficiently evaluated not reviewed unknown Array 479 10748 0.0445664 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - KRTAP4-2 Asn19Tyr N19Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP4-3 Pro152Ser P152S not reviewed Insufficiently evaluated not reviewed unknown Array rs428371 1023 10466 0.0977451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP4-3 Cys49Arg C49R not reviewed Insufficiently evaluated not reviewed unknown Array 679 9826 0.0691024 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP4-4 Arg154Ser R154S not reviewed Insufficiently evaluated not reviewed unknown Array rs366700 1142 10738 0.106351 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP4-4 Thr139Ile T139I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10726 0.000839082 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP4-4 Tyr125Cys Y125C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP4-4 Arg102Cys R102C not reviewed Insufficiently evaluated not reviewed unknown Array 95 10746 0.0088405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP4-4 Ser68Phe S68F not reviewed Insufficiently evaluated not reviewed unknown Array rs34361798 269 10730 0.0250699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP4-4 Cys35Ser C35S not reviewed Insufficiently evaluated not reviewed unknown Array rs444509 1014 10720 0.0945896 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP4-4 Tyr25Cys Y25C not reviewed Insufficiently evaluated not reviewed unknown Array rs385055 1327 10752 0.123419 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP4-4 Cys5Phe C5F not reviewed Insufficiently evaluated not reviewed unknown Array rs111435962 103 10740 0.00959032 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP4-5 Arg153Stop R153X not reviewed Insufficiently evaluated not reviewed unknown Array rs71371463 271 10716 0.0252893 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP4-5 Cys125Tyr C125Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1846044 558 10706 0.0521203 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP4-5 Cys79Ser C79S not reviewed Insufficiently evaluated not reviewed unknown Array rs411367 3158 10378 0.304298 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP4-5 Arg22Cys R22C not reviewed Insufficiently evaluated not reviewed unknown Array rs1497383 4799 10742 0.446751 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP4-5 Cys6Arg C6R not reviewed Insufficiently evaluated not reviewed unknown Array rs238829 424 10748 0.0394492 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP4-7 Ser16Gly S16G not reviewed Insufficiently evaluated not reviewed unknown Array 1866 3114 0.599229 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP4-7 Cys64Stop C64X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP4-7 Thr68Ser T68S not reviewed Insufficiently evaluated not reviewed unknown Array rs11650484 2209 3234 0.683055 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRTAP4-7 Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array 250 3200 0.078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-7 Arg146Cys R146C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP4-8 Thr173Ser T173S not reviewed Insufficiently evaluated not reviewed unknown Array 76 3234 0.0235003 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP4-8 Ala168Thr A168T not reviewed Insufficiently evaluated not reviewed unknown Array rs72625995 2206 3234 0.682127 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-8 Leu151Val L151V not reviewed Insufficiently evaluated not reviewed unknown Array 2055 3226 0.637012 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP4-9 Asp18Val D18V not reviewed Insufficiently evaluated not reviewed unknown Array 713 3232 0.220606 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP4-9 Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array 96 3232 0.029703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP5-1 Ala166Gly A166G not reviewed Insufficiently evaluated not reviewed unknown Array 1 12 0.0833333 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP5-1 Ser163Cys S163C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KRTAP5-10 Cys28Trp C28W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP5-10 Val46Ile V46I not reviewed Insufficiently evaluated not reviewed unknown Array 515 10718 0.04805 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRTAP5-10 Gly79Asp G79D not reviewed Insufficiently evaluated not reviewed unknown Array 34 10660 0.00318949 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP5-10 Ser171Arg S171R not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP5-2 Gly109Val G109V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP5-2 Gly29Arg G29R not reviewed Insufficiently evaluated not reviewed unknown Array rs35925287 8 122 0.0655738 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP5-3 Ser127Tyr S127Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP5-3 Gly122Ser G122S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP5-4 Phe147Cys F147C not reviewed Insufficiently evaluated not reviewed unknown Array rs6578597 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP5-5 Gly13Arg G13R not reviewed Insufficiently evaluated not reviewed unknown Array 276 10702 0.0257896 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP5-5 Arg17Leu R17L not reviewed Insufficiently evaluated not reviewed unknown Array rs66665994 4927 10692 0.460812 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP5-5 Cys31Arg C31R not reviewed Insufficiently evaluated not reviewed unknown Array rs71454094 3402 10310 0.329971 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP5-5 Ala53Gly A53G not reviewed Insufficiently evaluated not reviewed unknown Array rs71454096 7518 10376 0.724557 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP5-5 Val104Gly V104G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP5-5 Ser157Cys S157C not reviewed Insufficiently evaluated not reviewed unknown Array rs61867581 6316 10716 0.589399 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP5-5 Tyr182Ser Y182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP5-5 Tyr182Cys Y182C not reviewed Insufficiently evaluated not reviewed unknown Array 307 10740 0.0285847 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP5-5 Tyr192Cys Y192C not reviewed Insufficiently evaluated not reviewed unknown Array 638 10754 0.0593268 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP5-6 Cys6Phe C6F not reviewed Insufficiently evaluated not reviewed unknown Array rs58645950 1075 10754 0.0999628 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRTAP5-6 Cys120Gly C120G not reviewed Insufficiently evaluated not reviewed unknown Array rs73404785 1053 10758 0.0978806 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRTAP5-7 Cys36Ser C36S not reviewed Insufficiently evaluated not reviewed unknown Array 1749 10754 0.162637 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP5-7 Cys132Ser C132S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP5-8 Cys28Arg C28R not reviewed Insufficiently evaluated not reviewed unknown Array rs55921335 3110 10756 0.289141 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP5-8 Val38Met V38M not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP5-8 Ser124Cys S124C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP5-9 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP5-9 Tyr40Cys Y40C not reviewed Insufficiently evaluated not reviewed unknown Array rs10792769 2225 10758 0.206823 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP5-9 Gln98His Q98H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746411 541 10758 0.0502882 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KRTAP6-1 Gly48Val G48V not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP6-3 Gly28Arg G28R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP6-3 Tyr51Ser Y51S not reviewed Insufficiently evaluated not reviewed unknown Array rs9305426 6538 10758 0.607734 45 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KRTAP7-1 His61Gln H61Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRTAP7-1 Leu51Pro L51P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP7-1 Trp23Arg W23R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP9-2 Pro36Ser P36S not reviewed Insufficiently evaluated not reviewed unknown Array rs9903833 6865 10752 0.638486 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP9-2 Ala41Ser A41S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRTAP9-2 Thr55Ala T55A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP9-2 Cys56Ser C56S not reviewed Insufficiently evaluated not reviewed unknown Array rs9902235 7531 10758 0.700037 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP9-2 Val72Leu V72L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP9-2 Pro84Thr P84T not reviewed Insufficiently evaluated not reviewed unknown Array rs34024914 506 10746 0.0470873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP9-3 Gln20Lys Q20K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP9-4 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - KRTAP9-4 Ser146Tyr S146Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62065349 7066 10758 0.656814 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - KRTAP9-8 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array rs71383390 8136 10574 0.769434 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP9-8 Ser151Tyr S151Y not reviewed Insufficiently evaluated not reviewed unknown Array 7744 10240 0.75625 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 5 Y 0 N - - KSR1 Ala85Val A85V not reviewed Insufficiently evaluated not reviewed unknown Array rs2293180 1274 10346 0.123139 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KSR1 Pro88Ser P88S not reviewed Insufficiently evaluated not reviewed unknown Array rs34914492 20 10360 0.0019305 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KSR1 His304Asn H304N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KSR2 His536Tyr H536Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10026 9.974e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KSR2 Thr495Lys T495K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KTI12 Pro238Arg P238R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 5 Y 0 N - - KTI12 Asp191Glu D191E not reviewed Insufficiently evaluated not reviewed unknown Array rs2783175 598 10758 0.0555865 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KTI12 Ala61Ser A61S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - KYNU Lys412Glu K412E not reviewed Insufficiently evaluated not reviewed unknown Array rs9013 1716 10758 0.159509 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - L1TD1 Arg27Ser R27S not reviewed Insufficiently evaluated not reviewed unknown Array rs7552335 271 9414 0.0287869 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 2 - - L1TD1 Val246Ala V246A not reviewed Insufficiently evaluated not reviewed unknown Array rs7542665 5621 7966 0.705624 47 0 72 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - L1TD1 Val309Met V309M not reviewed Insufficiently evaluated not reviewed unknown Array rs7533274 4778 7390 0.646549 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - L1TD1 Lys329Asn K329N not reviewed Insufficiently evaluated not reviewed unknown Array rs2457828 856 7404 0.115613 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - L1TD1 Pro549Thr P549T not reviewed Insufficiently evaluated not reviewed unknown Array rs11207933 1482 10758 0.137758 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.839 - - 4 Y 0 N - - L1TD1 Thr613Ile T613I not reviewed Insufficiently evaluated not reviewed unknown Array rs2886644 2485 10756 0.231034 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - L2HGDH Leu18Arg L18R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275591 6039 10708 0.563971 35 0 51 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - L3MBTL2 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array rs3804097 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - L3MBTL2 Leu301Val L301V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9942 0.000804667 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.311 - - 0 - 1 N - - L3MBTL2 Val337Ala V337A not reviewed Insufficiently evaluated not reviewed unknown Array rs34289721 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.6 - - 2 - 2 - 2 - - L3MBTL3 Thr158Asn T158N not reviewed Insufficiently evaluated not reviewed unknown Array rs9388768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - L3MBTL3 Thr183Asn T183N not reviewed Insufficiently evaluated not reviewed unknown Array rs9388768 5570 10758 0.517754 32 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - L3MBTL4 Gly618Asp G618D not reviewed Insufficiently evaluated not reviewed unknown Array rs3737353 3538 9806 0.3608 40 0 51 0 0 - - - - - - - - - - - - - - - - 0.127 - - 4 Y 0 N - - LACTB Met5Leu M5L not reviewed Insufficiently evaluated not reviewed unknown Array 5326 6920 0.769653 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - LACTB Arg469Lys R469K not reviewed Insufficiently evaluated not reviewed unknown Array rs2729835 6964 10758 0.647332 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - LAD1 Thr503Ser T503S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275866 645 10758 0.0599554 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LAD1 Lys323Glu K323E not reviewed Insufficiently evaluated not reviewed unknown Array rs4128458 6372 10750 0.592744 46 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAD1 Pro279Gln P279Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11805972 1011 10758 0.0939766 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LAD1 Thr274Ala T274A not reviewed Insufficiently evaluated not reviewed unknown Array rs68021059 1017 10756 0.0945519 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LAD1 Leu243Pro L243P not reviewed Insufficiently evaluated not reviewed unknown Array rs12088790 1411 10758 0.131158 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LAD1 Ala56Ser A56S not reviewed Insufficiently evaluated not reviewed unknown Array rs3738281 1858 10758 0.172709 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LAG3 Ile455Thr I455T not reviewed Insufficiently evaluated not reviewed unknown Array rs870849 6403 10758 0.595185 44 0 66 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LAGE3 Asp16Asn D16N not reviewed Insufficiently evaluated not reviewed unknown Array 34 4989 0.00681499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LAIR1 Pro127Arg P127R not reviewed Insufficiently evaluated not reviewed unknown Array rs35781676 1084 10736 0.100969 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - LAIR1 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LAIR2 Glu23Ala E23A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10752 0.00102306 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - LAIR2 Arg76Stop R76X not reviewed Insufficiently evaluated not reviewed unknown Array rs61737751 374 10758 0.0347648 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LAIR2 His112Gln H112Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61737870 1175 10758 0.109221 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - LALBA Ile46Val I46V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232565 367 10758 0.0341141 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LAMA1 Glu2655Gln E2655Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73390524 94 10758 0.00873768 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - LAMA1 Thr2611Pro T2611P not reviewed Insufficiently evaluated not reviewed unknown Array rs543355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LAMA1 Thr2611Ala T2611A not reviewed Insufficiently evaluated not reviewed unknown Array rs543355 1794 10758 0.16676 14 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LAMA1 Ser2579Asn S2579N not reviewed Insufficiently evaluated not reviewed unknown Array rs73390531 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - LAMA1 Leu2511Met L2511M not reviewed Insufficiently evaluated not reviewed unknown Array rs60009920 172 10758 0.0159881 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - LAMA1 Arg2295Cys R2295C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - LAMA1 Ile2076Thr I2076T not reviewed Insufficiently evaluated not reviewed unknown Array rs671871 3294 10758 0.306191 30 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LAMA1 Lys2002Glu K2002E not reviewed Insufficiently evaluated not reviewed unknown Array rs607230 7068 10754 0.657244 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMA1 Ala1876Thr A1876T not reviewed Insufficiently evaluated not reviewed unknown Array rs11664063 1970 10758 0.18312 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LAMA1 Val1768Met V1768M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - LAMA1 Ala1763Val A1763V not reviewed Insufficiently evaluated not reviewed unknown Array rs12607841 1625 10758 0.15105 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMA1 Ile1659Val I1659V not reviewed Insufficiently evaluated not reviewed unknown Array rs62081533 1816 10758 0.168805 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LAMA1 Ser1577Ala S1577A not reviewed Insufficiently evaluated not reviewed unknown Array rs12961939 2490 10758 0.231456 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.397 - - -1 - 0 N - - LAMA1 Met1340Val M1340V not reviewed Insufficiently evaluated not reviewed unknown Array rs662471 3045 10758 0.283045 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 1 N - - LAMA1 Asn674Thr N674T not reviewed Insufficiently evaluated not reviewed unknown Array rs566655 2245 10758 0.208682 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.167 - - 1 - 0 N - - LAMA1 Leu349Ser L349S not reviewed Insufficiently evaluated not reviewed unknown Array rs9950267 694 10758 0.0645101 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.858 - - 6 Y 1 N - - LAMA2 Glu64Asp E64D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - LAMA2 Asp560Gly D560G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - LAMA2 Arg619His R619H not reviewed Insufficiently evaluated not reviewed unknown Array rs3816665 2924 10758 0.271798 24 0 35 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 3 - - LAMA2 His644Asp H644D not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LAMA2 Arg919Leu R919L not reviewed Insufficiently evaluated not reviewed unknown Array rs35277491 500 10758 0.046477 4 0 4 0 0 3 Y - - - - - - - - - - Y - - - - Y - 6 Y 3 - 2 - - LAMA2 Asn1099Ser N1099S not reviewed Insufficiently evaluated not reviewed unknown Array rs35065563 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LAMA2 Val1138Met V1138M not reviewed Insufficiently evaluated not reviewed unknown Array rs2306942 995 10758 0.0924893 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 4 - - LAMA2 Thr1205Ala T1205A not reviewed Insufficiently evaluated not reviewed unknown Array rs35889149 148 10758 0.0137572 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LAMA2 Thr2056Lys T2056K not reviewed Insufficiently evaluated not reviewed unknown Array rs73775407 333 10758 0.0309537 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LAMA2 Thr2263Met T2263M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LAMA2 Ala2583Val A2583V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LAMA2 Ala2587Val A2587V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - LAMA2 Thr2632Ala T2632A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LAMA2 Thr2636Ala T2636A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - LAMA2 Asn2839Ser N2839S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LAMA2 Asn2843Ser N2843S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LAMA2 Pro2921Leu P2921L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LAMA2 Pro2925Leu P2925L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LAMA3 Arg200Gln R200Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 9464 0.00147929 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMA3 Trp758Stop W758X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - LAMA3 Thr796Asn T796N not reviewed Insufficiently evaluated not reviewed unknown Array rs17187262 326 9690 0.0336429 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Leu1124Arg L1124R not reviewed Insufficiently evaluated not reviewed unknown Array 25 9926 0.00251864 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Val1206Ala V1206A not reviewed Insufficiently evaluated not reviewed unknown Array rs12457323 358 9772 0.0366353 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LAMA3 Pro1208Thr P1208T not reviewed Insufficiently evaluated not reviewed unknown Array rs17202961 467 9770 0.0477994 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LAMA3 Val1826Glu V1826E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - LAMA3 Val217Glu V217E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - LAMA3 Lys2069Stop K2069X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - LAMA3 Lys2125Stop K2125X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - LAMA3 Lys460Stop K460X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - LAMA3 Lys516Stop K516X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 2 Y 0 - 0 - 0 - 5 - 0 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which would be expected to cause a severe pathogenic phenotype in a recessive manner. There are no reports regarding this variant. Other mutations in this gene are associated with causing junctional epidermolysis bullosa (lethal and non-lethal) in a recessive manner, and there are lethal variants listed in OMIM occurring after this variant's position. Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. LAMA3 Thr1037Ala T1037A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Thr1093Ala T1093A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Thr2646Ala T2646A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Thr2702Ala T2702A not reviewed Insufficiently evaluated not reviewed unknown Array rs9952370 154 10756 0.0143176 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Asn1150Lys N1150K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Asn1206Lys N1206K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Asn2759Lys N2759K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 Asn2815Lys N2815K not reviewed Insufficiently evaluated not reviewed unknown Array rs1154232 1632 10758 0.151701 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - LAMA3 Ser1169Gly S1169G not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LAMA3 Ser1225Gly S1225G not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LAMA3 Ser2778Gly S2778G not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LAMA3 Ser2834Gly S2834G not reviewed Insufficiently evaluated not reviewed unknown Array rs1154233 124 124 1 56 0 110 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - LAMA3 Ser1453Asn S1453N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMA3 Ser1509Asn S1509N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMA3 Ser3062Asn S3062N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMA3 Ser3118Asn S3118N not reviewed Insufficiently evaluated not reviewed unknown Array rs61749943 4 10758 0.000371816 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMA4 Pro1112Arg P1112R not reviewed Insufficiently evaluated not reviewed unknown Array rs1050349 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LAMA4 Pro1119Arg P1119R not reviewed Insufficiently evaluated not reviewed unknown Array rs1050349 2377 10758 0.220952 19 0 20 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 1 N - - LAMA4 Gly1110Ser G1110S not reviewed Insufficiently evaluated not reviewed unknown Array rs2032567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMA4 Gly1117Ser G1117S not reviewed Insufficiently evaluated not reviewed unknown Array rs2032567 8080 10758 0.751069 50 0 79 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMA4 Tyr1012His Y1012H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LAMA4 Tyr1019His Y1019H not reviewed Insufficiently evaluated not reviewed unknown Array rs73532636 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - LAMA4 Tyr491His Y491H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LAMA4 Tyr498His Y498H not reviewed Insufficiently evaluated not reviewed unknown Array rs1050348 7036 10758 0.654025 50 0 75 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LAMA4 Leu485His L485H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 6 Y 2 - 3 - - LAMA4 Leu492His L492H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.8 - - 6 Y 2 - 3 - - LAMA4 Ala276Glu A276E not reviewed Insufficiently evaluated not reviewed unknown Array rs9400522 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAMA4 Ala283Glu A283E not reviewed Insufficiently evaluated not reviewed unknown Array rs9400522 10757 10758 0.999907 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LAMA4 Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array rs35349917 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - LAMA5 Arg3666Lys R3666K not reviewed Insufficiently evaluated not reviewed unknown Array 99 10180 0.00972495 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - -3 - 2 N - - LAMA5 Gly3614Arg G3614R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10620 0.000376647 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LAMA5 Ala3609Ser A3609S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - LAMA5 Arg3079Trp R3079W not reviewed Insufficiently evaluated not reviewed unknown Array rs944895 6683 10718 0.623531 45 0 72 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LAMA5 Gly2380Ser G2380S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10654 0.00112634 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.253 - - 2 - 1 N - - LAMA5 Arg2226His R2226H not reviewed Insufficiently evaluated not reviewed unknown Array rs2297587 2285 10498 0.217661 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - LAMA5 Asp2062Asn D2062N not reviewed Insufficiently evaluated not reviewed unknown Array rs2274934 4479 10532 0.425275 33 0 50 0 0 - - - - - - - - - - - - - - - - 0.551 - - -1 - 0 N - - LAMA5 His2036Arg H2036R not reviewed Insufficiently evaluated not reviewed unknown Array rs6143021 2165 10300 0.210194 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.393 - - 1 - 0 N - - LAMA5 Ala1908Thr A1908T not reviewed Insufficiently evaluated not reviewed unknown Array rs11698080 2553 10658 0.239538 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - LAMA5 Asp1905Asn D1905N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10676 0.000281004 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - LAMA5 Val1900Met V1900M not reviewed Insufficiently evaluated not reviewed unknown Array rs2427283 6882 10684 0.644141 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMA5 Phe1807Ser F1807S not reviewed Insufficiently evaluated not reviewed unknown Array rs2427284 9826 10752 0.913876 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LAMA5 Val1757Ile V1757I not reviewed Insufficiently evaluated not reviewed unknown Array rs11699758 293 10756 0.0272406 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - LAMA5 His1717Tyr H1717Y not reviewed Insufficiently evaluated not reviewed unknown Array rs875379 798 10758 0.0741774 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.744 - - -1 - 0 N - - LAMA5 Arg1679Trp R1679W not reviewed Insufficiently evaluated not reviewed unknown Array rs34000043 89 10718 0.00830379 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - LAMA5 Thr1671Met T1671M not reviewed Insufficiently evaluated not reviewed unknown Array rs944893 678 10726 0.0632109 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMA5 Arg1667Trp R1667W not reviewed Insufficiently evaluated not reviewed unknown Array rs13039398 251 10724 0.0234054 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - LAMA5 Ala1585Val A1585V not reviewed Insufficiently evaluated not reviewed unknown Array 219 10730 0.0204101 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMA5 Arg1560Cys R1560C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LAMA5 Arg1390Gln R1390Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - LAMA5 Lys1367Glu K1367E not reviewed Insufficiently evaluated not reviewed unknown Array rs2427286 9962 10716 0.929638 49 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMA5 Met1258Thr M1258T not reviewed Insufficiently evaluated not reviewed unknown Array rs3810548 8371 10416 0.803667 39 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMA5 Arg1181Cys R1181C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - LAMA5 Ala1180Ser A1180S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10756 0.00418371 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - LAMA5 Thr956Ala T956A not reviewed Insufficiently evaluated not reviewed unknown Array rs13042941 7950 10672 0.74494 13 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LAMA5 Val889Met V889M not reviewed Insufficiently evaluated not reviewed unknown Array rs6062223 1032 10748 0.0960179 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 0 N - - LAMA5 Lys812Thr K812T not reviewed Insufficiently evaluated not reviewed unknown Array rs79319629 246 10756 0.022871 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - LAMA5 Thr401Ala T401A not reviewed Insufficiently evaluated not reviewed unknown Array rs4925229 9350 10680 0.875468 51 0 89 0 0 - - - - - - - - - - - - - - - - 0.184 - - 1 - 0 N - - LAMA5 Thr323Ser T323S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LAMB1 Ile1547Thr I1547T not reviewed Insufficiently evaluated not reviewed unknown Array rs35915664 157 10758 0.0145938 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - LAMB1 Arg1217Leu R1217L not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - LAMB1 Gln1022Arg Q1022R not reviewed Insufficiently evaluated not reviewed unknown Array rs20556 7078 10758 0.657929 45 0 75 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMB1 Gly860Ser G860S not reviewed Insufficiently evaluated not reviewed unknown Array rs35710474 548 10758 0.0509388 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 1 N - - LAMB1 Arg795Gly R795G not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LAMB1 Val670Ala V670A not reviewed Insufficiently evaluated not reviewed unknown Array rs20555 173 10758 0.0160811 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.944 - - 2 - 2 N - - LAMB1 Pro379Ser P379S not reviewed Insufficiently evaluated not reviewed unknown Array rs28750165 653 10758 0.060699 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.934 - - 3 - 1 N - - LAMB2 Arg1345His R1345H not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LAMB2 Glu1109Lys E1109K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.548 Y - 0 - 2 N - - LAMB2 Glu987Lys E987K not reviewed Insufficiently evaluated not reviewed unknown Array rs34759087 1029 10758 0.0956497 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.17 Y - 0 - 1 N - - LAMB3 Ala926Asp A926D not reviewed Insufficiently evaluated not reviewed unknown Array rs2076222 186 10758 0.0172895 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.27 Y Y 5 Y 4 - 1 - - LAMB3 Met852Leu M852L not reviewed Insufficiently evaluated not reviewed unknown Array rs12748250 1290 10754 0.119955 11 0 11 0 0 - - - - - - - - - - - - Y - - - 0.526 Y Y -3 - 3 - 1 - - LAMB3 Arg848Trp R848W not reviewed Insufficiently evaluated not reviewed unknown Array rs59260335 169 10754 0.0157151 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.055 Y Y 7 Y 3 - 2 - - LAMB3 Asn690Ser N690S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229466 179 10758 0.0166388 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 3 - 1 - - LAMB3 Arg635Stop R635X pathogenic Insufficiently evaluated pathogenic recessive Array 4 10758 0.000371816 0 0 0 3 3 3 Y 1 Y 5 Y 5 Y 5 Y 1 Y Y Y - - - Y Y 10 Y Junctional Epidermolysis Bullosa 10 14 0 18 INF 6 N 10 - - This variant is known to cause Herlitz-Junctional Epidermolysis Bullosa, which causes skin blistering and is lethal within weeks or months of birth. LAMB3 Val527Met V527M not reviewed Insufficiently evaluated not reviewed unknown Array rs2076349 1159 10758 0.107734 21 0 29 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 0 - 3 - 1 - - LAMB3 Ser438Thr S438T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229468 469 10758 0.0435955 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - LAMB3 Ala260Thr A260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.308 Y Y 1 - 3 N - - LAMB3 Met194Ile M194I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y -1 - 4 N - - LAMB3 Asn181Asp N181D not reviewed Insufficiently evaluated not reviewed unknown Array rs2235542 174 10758 0.016174 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.842 Y Y -1 - 4 - 1 - - LAMB3 Asp111Gly D111G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 4 Y 4 N - - LAMB4 Arg1612Ser R1612S not reviewed Insufficiently evaluated not reviewed unknown Array rs2528693 1218 10758 0.113218 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - LAMB4 His1510Tyr H1510Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1627354 2458 10758 0.228481 25 0 32 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 0 N - - LAMB4 Gly1465Val G1465V not reviewed Insufficiently evaluated not reviewed unknown Array rs73424723 155 10756 0.0144106 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.125 - - 8 Y 0 N - - LAMB4 Thr1350Asn T1350N not reviewed Insufficiently evaluated not reviewed unknown Array rs10260756 2075 10754 0.192951 4 0 7 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - LAMB4 Asn866Ser N866S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240445 94 10758 0.00873768 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - LAMB4 Val591Phe V591F not reviewed Insufficiently evaluated not reviewed unknown Array rs9690688 1940 10758 0.180331 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.656 - - 3 - 0 N - - LAMB4 Met44Thr M44T not reviewed Insufficiently evaluated not reviewed unknown Array rs35644375 1090 10758 0.10132 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMC1 Ile458Val I458V not reviewed Insufficiently evaluated not reviewed unknown Array rs20563 5369 10758 0.49907 43 0 57 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 1 N - - LAMC1 Asp532Glu D532E not reviewed Insufficiently evaluated not reviewed unknown Array rs61752348 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -2 - 3 - 1 - - LAMC1 Leu888Pro L888P not reviewed Insufficiently evaluated not reviewed unknown Array rs20558 5370 10758 0.499163 41 0 54 0 0 3 Y - - - - - - - - - - - - - - - Y - 7 Y 1 N - - LAMC1 Arg1121Gln R1121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs20559 480 10758 0.044618 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - LAMC1 Asn1205Ser N1205S not reviewed Insufficiently evaluated not reviewed unknown Array rs61749262 237 10758 0.0220301 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - LAMC2 Ala111Pro A111P not reviewed Insufficiently evaluated not reviewed unknown Array rs12065473 422 10758 0.0392266 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 2 - 2 N - - LAMC2 Thr124Met T124M not reviewed Insufficiently evaluated not reviewed unknown Array rs11586699 717 10758 0.0666481 6 0 5 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 2 - 3 N - - LAMC2 Asp136Val D136V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.129 Y Y 8 Y 2 N - - LAMC2 Asp247Glu D247E not reviewed Insufficiently evaluated not reviewed unknown Array rs2296306 366 10758 0.0340212 5 0 5 1 0 - - - - - - - - - - - - Y - - - 0.328 Y Y -2 - 4 - 1 - - LAMC2 Leu679Phe L679F not reviewed Insufficiently evaluated not reviewed unknown Array rs62640910 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMC2 Ser733Thr S733T not reviewed Insufficiently evaluated not reviewed unknown Array rs2296303 1750 10758 0.16267 16 0 18 0 0 - - - - - - - - - - - - Y - - - 0.935 Y Y -2 - 4 - 2 - - LAMC2 Val769Ala V769A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - LAMC3 His73Gln H73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3739512 4955 8830 0.561155 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LAMC3 Pro174His P174H not reviewed Insufficiently evaluated not reviewed unknown Array rs2275137 3023 10758 0.281 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LAMC3 Ala321Val A321V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMC3 Pro522Ser P522S not reviewed Insufficiently evaluated not reviewed unknown Array rs869457 2866 10308 0.278036 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LAMC3 Glu544Gly E544G not reviewed Insufficiently evaluated not reviewed unknown Array rs10901333 5338 10758 0.496189 46 0 62 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LAMC3 Thr680Met T680M not reviewed Insufficiently evaluated not reviewed unknown Array rs73658916 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMC3 Gly699Asp G699D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737720 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LAMC3 Arg770Gly R770G not reviewed Insufficiently evaluated not reviewed unknown Array rs3739510 9331 10756 0.867516 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LAMC3 Ser813Asn S813N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMC3 Ser813Arg S813R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAMC3 Thr839Met T839M not reviewed Insufficiently evaluated not reviewed unknown Array rs57816762 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMC3 Ser1082Gly S1082G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275140 8243 10758 0.766221 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMC3 Arg1264Trp R1264W not reviewed Insufficiently evaluated not reviewed unknown Array rs11244275 486 10758 0.0451757 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LAMC3 Arg1425His R1425H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMC3 Thr1433Met T1433M not reviewed Insufficiently evaluated not reviewed unknown Array rs7024108 3254 10758 0.302473 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMC3 Arg1459Gln R1459Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4740412 2178 10758 0.202454 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMC3 Arg1475His R1475H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMP1 Gly36Asp G36D not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LAMP1 Ala204Val A204V not reviewed Insufficiently evaluated not reviewed unknown Array rs9577229 512 10172 0.0503342 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LAMP1 Ile309Thr I309T not reviewed Insufficiently evaluated not reviewed unknown Array rs9577230 287 9590 0.029927 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAMP3 Ile318Val I318V not reviewed Insufficiently evaluated not reviewed unknown Array rs482912 6366 10758 0.591746 31 0 45 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LANCL2 Thr56Pro T56P not reviewed Insufficiently evaluated not reviewed unknown Array rs2272263 2581 10632 0.242758 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LANCL2 Ile74Val I74V not reviewed Insufficiently evaluated not reviewed unknown Array rs6961412 623 10758 0.0579104 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LANCL3 Leu381Pro L381P not reviewed Insufficiently evaluated not reviewed unknown Array rs28503960 1541 8755 0.176014 6 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LAPTM5 Arg226Lys R226K not reviewed Insufficiently evaluated not reviewed unknown Array rs35351292 2098 10758 0.195018 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - LAPTM5 Thr21Ala T21A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.797 - - 1 - 2 - 1 - - LARGE Arg665His R665H not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - 1 - 4 - 3 - - LARGE Arg650Gln R650Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73399520 213 10758 0.0197992 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.058 Y - 0 - 2 - 1 - - LARP1 Lys740Stop K740X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LARP1 Lys817Stop K817X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LARP2 Pro109Leu P109L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LARP2 Pro462Arg P462R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LARP2 Lys570Asn K570N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LARP2 Arg660His R660H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LARP2 Arg871His R871H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LARP4 Met471Ile M471I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LARP4 Met542Ile M542I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - LARP4 Met548Ile M548I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LARP7 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array 297 9424 0.0315153 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 1 N - - LARP7 Asn245Ser N245S not reviewed Insufficiently evaluated not reviewed unknown Array 32 9782 0.00327131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LARP7 Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62317770 285 9632 0.0295889 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.258 - - 0 - 1 N - - LARS Arg1088Lys R1088K not reviewed Insufficiently evaluated not reviewed unknown Array rs10988 2200 10758 0.204499 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.063 - - -3 - 0 N - - LARS Asn892Asp N892D not reviewed Insufficiently evaluated not reviewed unknown Array rs61732383 2132 10756 0.198215 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LARS Ala779Val A779V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LARS2 His324Gln H324Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71645922 277 10758 0.0257483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - -1 - 2 - 10 - - LARS2 Gly647Arg G647R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LASS2 Glu115Ala E115A not reviewed Insufficiently evaluated not reviewed unknown Array rs267738 1639 10758 0.152352 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - LASS3 Arg370Gly R370G not reviewed Insufficiently evaluated not reviewed unknown Array rs2439928 10582 10758 0.98364 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LASS3 Tyr45Cys Y45C not reviewed Insufficiently evaluated not reviewed unknown Array rs60405735 1372 10756 0.127557 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - LASS4 Arg119Gln R119Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17159388 740 10756 0.0687988 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 0 N - - LASS4 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array rs17160348 1614 10756 0.150056 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LASS4 Ala366Thr A366T not reviewed Insufficiently evaluated not reviewed unknown Array rs36259 7978 10744 0.742554 43 0 72 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - LASS4 Arg379Gln R379Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17160349 1490 10586 0.140752 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - LASS5 Cys75Arg C75R not reviewed Insufficiently evaluated not reviewed unknown Array rs7302981 7624 10758 0.708682 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LATS1 Val647Ile V647I not reviewed Insufficiently evaluated not reviewed unknown Array rs73608608 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - -4 - 0 N - - LATS1 Ser204Gly S204G not reviewed Insufficiently evaluated not reviewed unknown Array rs34793526 309 10758 0.0287228 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.256 - - 2 - 2 - 2 - - LATS2 Gly363Ser G363S not reviewed Insufficiently evaluated not reviewed unknown Array rs2770928 8637 10382 0.831921 26 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LATS2 Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array rs558614 7816 10634 0.735001 22 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LATS2 Ala203Val A203V not reviewed Insufficiently evaluated not reviewed unknown Array 141 10754 0.0131114 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAX1 His156Gln H156Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LAX1 His172Gln H172Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74138705 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.21 - - -1 - 1 N - - LAX1 Ser287Thr S287T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LAX1 Ser303Thr S303T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.151 - - -2 - 0 N - - LAYN Val14Met V14M not reviewed Insufficiently evaluated not reviewed unknown Array rs11213935 284 6734 0.042174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 1 - 2 - - LAYN Glu58Lys E58K not reviewed Insufficiently evaluated not reviewed unknown Array rs11827718 131 10758 0.012177 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - LAYN Val143Met V143M not reviewed Insufficiently evaluated not reviewed unknown Array rs57447419 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - LAYN Gly344Arg G344R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LBA1 Gly2258Val G2258V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LBA1 Gly2198Trp G2198W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LBA1 Val601Leu V601L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LBA1 Glu540Gly E540G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LBA1 Pro153Leu P153L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - LBA1 Gln147Arg Q147R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LBP Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232580 720 10758 0.0669269 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LBP Glu147Lys E147K not reviewed Insufficiently evaluated not reviewed unknown Array rs36015492 111 10758 0.0103179 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.374 - - 0 - 1 N - - LBP Ser157Cys S157C not reviewed Insufficiently evaluated not reviewed unknown Array rs2232586 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 5 - - LBP Val166Met V166M not reviewed Insufficiently evaluated not reviewed unknown Array rs5744204 1258 10758 0.116936 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.297 - - 0 - 0 N - - LBP Gly249Asp G249D not reviewed Insufficiently evaluated not reviewed unknown Array rs73909012 35 10758 0.00325339 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 3 - 1 - - LBP Asp283Gly D283G not reviewed Insufficiently evaluated not reviewed unknown Array rs2232607 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 3 - 8 - - LBP Pro333Leu P333L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232613 919 10758 0.0854248 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - LBP Ala384Thr A384T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LBP Phe436Leu F436L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232618 1363 10758 0.126696 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LBR Ala510Thr A510T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - LBR Thr311Ala T311A not reviewed Insufficiently evaluated not reviewed unknown Array rs2275601 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LBR Ser154Asn S154N not reviewed Insufficiently evaluated not reviewed unknown Array rs2230419 7574 10758 0.704034 46 0 76 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 3 - - LBX1 Cys54Gly C54G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - LBX2 Ser154Phe S154F not reviewed Insufficiently evaluated not reviewed unknown Array rs17009998 1503 10756 0.139736 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LBXCOR1 Ala725Pro A725P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCA5 Gly656Asp G656D not reviewed Insufficiently evaluated not reviewed unknown Array rs1875845 4093 10756 0.380532 34 0 45 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - LCA5 Asp26Ala D26A not reviewed Insufficiently evaluated not reviewed unknown Array rs34068461 1605 10758 0.149191 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 5 Y 4 - 1 - - LCA5 Leu24Ser L24S not reviewed Insufficiently evaluated not reviewed unknown Array rs2655655 9021 10758 0.838539 55 0 98 0 0 3 Y - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - LCA5L Gly547Ser G547S not reviewed Insufficiently evaluated not reviewed unknown Array rs11558767 866 10758 0.0804982 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.552 - - 2 - 0 N - - LCA5L Gly17Ser G17S not reviewed Insufficiently evaluated not reviewed unknown Array rs2837029 2866 10758 0.266406 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LCA5L Phe16Ser F16S not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LCAP Pro14Ala P14A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCAP Pro48Ala P48A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCAT Asp352Asn D352N not reviewed Insufficiently evaluated not reviewed unknown Array rs57506973 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.221 Y - -1 - 2 N - - LCAT Ser232Thr S232T not reviewed Insufficiently evaluated not reviewed unknown Array rs4986970 248 10758 0.0230526 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.484 Y - -2 - 3 - 3 - - LCE1B Cys51Tyr C51Y not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LCE1B His113Gln H113Q not reviewed Insufficiently evaluated not reviewed unknown Array 317 10754 0.0294774 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LCE1C Cys16Tyr C16Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2006940 1536 10756 0.142804 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LCE1D Asn59Ser N59S not reviewed Insufficiently evaluated not reviewed unknown Array 82 9828 0.00834351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LCE1D Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array rs41268490 159 9592 0.0165763 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LCE1D Arg84His R84H not reviewed Insufficiently evaluated not reviewed unknown Array rs41268492 2165 9526 0.227273 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LCE1D Ser88Asn S88N not reviewed Insufficiently evaluated not reviewed unknown Array rs41268494 1194 9604 0.124323 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LCE1D Ser107Gly S107G not reviewed Insufficiently evaluated not reviewed unknown Array 2566 9514 0.269708 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LCE1E Ser59Gly S59G not reviewed Insufficiently evaluated not reviewed unknown Array rs11205106 6031 10752 0.560919 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LCE1E Gly102Asp G102D not reviewed Insufficiently evaluated not reviewed unknown Array 182 10578 0.0172055 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LCE1E Gly111Ser G111S not reviewed Insufficiently evaluated not reviewed unknown Array 1062 10720 0.0990672 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LCE1F Cys16Stop C16X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LCE2A Cys3Tyr C3Y not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LCE2A Cys20Tyr C20Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58733562 636 10758 0.0591188 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LCE2B Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCE2B Ile51Ser I51S not reviewed Insufficiently evaluated not reviewed unknown Array rs3737859 1634 10758 0.151887 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LCE2B Cys72Ser C72S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730789 216 10758 0.0200781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LCE2B Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28391399 97 10738 0.00903334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LCE2D Ser88Cys S88C not reviewed Insufficiently evaluated not reviewed unknown Array rs9793541 2267 10732 0.211237 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LCE2D Cys92Tyr C92Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11205064 90 10742 0.00837833 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LCE3C Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array 162 7396 0.0219037 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LCE3D Gly81Val G81V not reviewed Insufficiently evaluated not reviewed unknown Array rs57201979 109 10756 0.0101339 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LCE3D Gly43Val G43V not reviewed Insufficiently evaluated not reviewed unknown Array rs512208 3244 10750 0.301767 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LCE4A Ile18Val I18V not reviewed Insufficiently evaluated not reviewed unknown Array rs41268472 228 10758 0.0211935 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LCE4A Gly49Cys G49C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCE4A Gly95Val G95V not reviewed Insufficiently evaluated not reviewed unknown Array rs10888510 905 10744 0.0842331 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LCE5A Cys40Tyr C40Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2105117 5772 10758 0.536531 46 0 62 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LCLAT1 His233Gln H233Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LCLAT1 His271Gln H271Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LCLAT1 Ile252Val I252V not reviewed Insufficiently evaluated not reviewed unknown Array rs12471868 1260 10758 0.117122 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LCLAT1 Ile290Val I290V not reviewed Insufficiently evaluated not reviewed unknown Array rs12471868 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LCMT2 Leu259Val L259V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 1 - 1 - - LCMT2 Phe258Cys F258C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - LCMT2 Arg141Ser R141S not reviewed Insufficiently evaluated not reviewed unknown Array rs3742970 704 10752 0.0654762 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - LCN10 Gln161Stop Q161X not reviewed Insufficiently evaluated not reviewed unknown Array rs9886752 1781 10744 0.165767 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - LCN12 Val191Ile V191I not reviewed Insufficiently evaluated not reviewed unknown Array rs55888789 608 10336 0.0588235 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.242 - - -4 - 0 N - - LCN15 Lys164Glu K164E not reviewed Insufficiently evaluated not reviewed unknown Array rs2297722 7970 10720 0.74347 36 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LCN15 Ser152Ala S152A not reviewed Insufficiently evaluated not reviewed unknown Array rs2297723 7991 10728 0.744873 21 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LCN15 Gly70Ser G70S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LCN15 Thr60Pro T60P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - LCN15 Ser59Cys S59C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - LCN2 Thr124Met T124M not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.842 - - 2 - 1 N - - LCN6 Gly58Glu G58E not reviewed Insufficiently evaluated not reviewed unknown Array rs73554091 316 10758 0.0293735 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - LCN8 Gly141Val G141V not reviewed Insufficiently evaluated not reviewed unknown Array rs2282258 1499 10720 0.139832 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LCN9 Cys90Phe C90F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.775 - - 4 Y 2 - 4 - - LCNL1 Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array rs17578859 2304 10502 0.219387 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.346 - - 1 - 0 N - - LCNL1 Phe82Val F82V not reviewed Insufficiently evaluated not reviewed unknown Array 118 10398 0.0113483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - LCP1 Lys533Glu K533E not reviewed Insufficiently evaluated not reviewed unknown Array rs4941543 9300 10756 0.864634 52 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LCT Asn1639Ser N1639S not reviewed Insufficiently evaluated not reviewed unknown Array rs2322659 6588 10758 0.612381 41 0 55 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - LCT Tyr1374Asn Y1374N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - LCT Ala1249Val A1249V not reviewed Insufficiently evaluated not reviewed unknown Array rs57217499 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LCT Gln672Arg Q672R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LCT Ile362Val I362V not reviewed Insufficiently evaluated not reviewed unknown Array rs4954449 10506 10758 0.976576 56 0 108 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - LCT Val219Ile V219I not reviewed Insufficiently evaluated not reviewed unknown Array rs3754689 2938 10758 0.273099 20 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 2 - - LCT Ser190Leu S190L not reviewed Insufficiently evaluated not reviewed unknown Array rs35156533 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - LCTL Thr555Pro T555P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LCTL Ala240Thr A240T not reviewed Insufficiently evaluated not reviewed unknown Array rs1030986 212 10758 0.0197063 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 1 - 4 - - LDB3 Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 9 - - LDB3 Pro101Leu P101L not reviewed Insufficiently evaluated not reviewed unknown Array rs45592139 112 10758 0.0104109 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - LDB3 Arg165Gln R165Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LDB3 Ser265Phe S265F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - LDB3 Ser375Phe S375F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 1 - - LDB3 Val525Ile V525I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - LDB3 Val635Ile V635I not reviewed Insufficiently evaluated not reviewed unknown Array rs45618633 249 10758 0.0231456 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.924 Y Y -4 - 4 N - - LDHAL6B Val14Met V14M not reviewed Insufficiently evaluated not reviewed unknown Array rs3809530 3042 10758 0.282766 30 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LDHAL6B Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array rs3809529 3871 10758 0.359825 36 0 44 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - LDHAL6B Ile319Thr I319T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LDHAL6B Ile326Thr I326T not reviewed Insufficiently evaluated not reviewed unknown Array rs3825937 2949 10754 0.274224 28 0 30 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - LDHAL6B Asn347Asp N347D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LDHAL6B Asn347Lys N347K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LDHC Ile13Leu I13L not reviewed Insufficiently evaluated not reviewed unknown Array rs73436621 231 10758 0.0214724 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - LDHD Arg420Ser R420S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741512 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - LDHD Arg443Ser R443S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.333 - - 3 - 2 - 1 - - LDLR Ala391Thr A391T not reviewed Insufficiently evaluated not reviewed unknown Array rs11669576 970 10758 0.0901655 18 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 7 - - LDLR Thr726Ile T726I not reviewed Insufficiently evaluated not reviewed unknown Array rs45508991 63 10758 0.00585611 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 3 - 2 - 4 - - LDLR Val827Ile V827I pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 4 10758 0.000371816 2 0 2 0 0 1 Y - - ! Y - - 3 - 3 - Y - - - 0.956 Y - -4 - 4 - 1 1 0 LabCorps has reported this as a "likely pathogenic" in ClinVar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000030135/ Other missense variants in this gene are reported to cause familial hypercholesterolemia in a dominant manner. However, according to ExAC allele frequency data this variant is carried by 1 in 400 with European descent -- roughly equal to the prevalence of the disease. This seems to contradict the reported effect: if this variant *were* a significant cause of the disease, we would expect it to account for a large fraction of cases and be well-established in literature -- but this does not appear to be the case. LDLRAD1 Ser42Phe S42F not reviewed Insufficiently evaluated not reviewed unknown Array 114 10308 0.0110594 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LDLRAD2 Asn134Thr N134T not reviewed Insufficiently evaluated not reviewed unknown Array rs10917051 6116 9582 0.63828 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LDLRAP1 Glu44Gly E44G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.855 Y - 6 Y 3 N - - LDLRAP1 Ser202Pro S202P not reviewed Insufficiently evaluated not reviewed unknown Array rs6687605 5043 10756 0.468855 29 0 38 0 0 - - - - - - - - - - - - Y - - - 0.803 Y - 3 - 2 - 2 - - LDLRAP1 Arg238Trp R238W pathogenic Insufficiently evaluated pathogenic recessive Array rs41291058 374 10758 0.0347648 1 0 1 2 2 2 Y - - ! Y - - 1 Y 3 Y Y - - - 0.961 Y - 7 Y 3 N - - This variant was seen in a homozygous fashion in siblings with familial hypercholesterolemia who also had a frameshift mutation in the same gene. Hubacek et al. studied the frequency of this variant in high and low cholesterol groups and conclude that this variant has little effect, if any, on cholesterol levels. LECT1 Val175Ile V175I not reviewed Insufficiently evaluated not reviewed unknown Array rs7330220 1097 10758 0.101971 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - LECT2 Ile58Val I58V not reviewed Insufficiently evaluated not reviewed unknown Array rs31517 6630 10758 0.616286 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LEF1 Pro106Leu P106L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.788 - - 7 Y 1 N - - LEF1 Asp85Asn D85N not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 1 - 1 - - LEFTY1 Asp322Ala D322A not reviewed Insufficiently evaluated not reviewed unknown Array rs360057 3237 10758 0.300892 32 0 37 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LEFTY1 Glu259Lys E259K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10750 0.000837209 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LEFTY1 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array rs35273824 464 10754 0.0431467 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - LEFTY1 Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41310561 318 10490 0.0303146 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - LEFTY2 Val328Ile V328I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731738 461 10758 0.0428518 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.576 - - -4 - 1 N - - LEFTY2 Pro286Leu P286L not reviewed Insufficiently evaluated not reviewed unknown Array rs2295418 287 10758 0.0266778 2 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 7 Y 2 N - - LEKR1 Ile356Val I356V not reviewed Insufficiently evaluated not reviewed unknown Array rs61469347 335 10758 0.0311396 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LEMD2 Ala121Val A121V not reviewed Insufficiently evaluated not reviewed unknown Array 400 5514 0.0725426 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 2 - 0 N - - LENG8 Arg279Pro R279P not reviewed Insufficiently evaluated not reviewed unknown Array rs35061854 166 10758 0.0154304 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - LENG8 Gly465Ser G465S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LENG8 Ile557Val I557V not reviewed Insufficiently evaluated not reviewed unknown Array rs35336528 344 10754 0.0319881 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LENG9 Arg499Pro R499P not reviewed Insufficiently evaluated not reviewed unknown Array rs10423424 6556 10752 0.609747 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LENG9 His153Arg H153R not reviewed Insufficiently evaluated not reviewed unknown Array rs10406453 7550 10266 0.735437 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LENG9 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs1981829 1729 2506 0.689944 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LEO1 Asp6Gly D6G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 4 Y 2 - 4 - - LEP Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array rs17151919 291 10758 0.0270496 8 0 8 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - 0 - 2 - 8 - - LEP Gln160His Q160H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.93 Y - -1 - 3 N - - LEPR Lys109Arg K109R not reviewed Insufficiently evaluated not reviewed unknown Array rs1137100 2489 10758 0.231363 24 0 34 2 2 - - - - - - - - - - - - Y Y - - 0.026 Y - -3 - 3 N 10 - - LEPR Gln223Arg Q223R not reviewed Insufficiently evaluated not reviewed unknown Array rs1137101 5233 10758 0.486429 66 0 97 1 1 3 Y - - - - - - - - - - Y Y - - 0.484 Y - 0 - 3 N 10 - - LEPR Lys656Asn K656N not reviewed Insufficiently evaluated not reviewed unknown Array rs8179183 1893 10742 0.176224 22 0 22 1 1 - - - - - - - - - - - - Y Y - - 0.454 Y - 1 - 3 N 10 - - LEPRE1 Ala691Val A691V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LEPRE1 Gln644Lys Q644K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10638 0.000470013 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.099 Y - -2 - 2 - 1 - - LEPRE1 Met549Ile M549I not reviewed Insufficiently evaluated not reviewed unknown Array rs11581921 681 10758 0.0633017 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.424 Y - -1 - 2 - 1 - - LEPRE1 Gly349Arg G349R not reviewed Insufficiently evaluated not reviewed unknown Array rs6700677 697 10758 0.064789 9 0 9 0 0 3 Y - - - - - - - - - - Y - - - 0.805 Y - 6 Y 2 - 1 - - LEPRE1 Pro204His P204H not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 5 Y 3 N - - LEPRE1 Ala47Ser A47S not reviewed Insufficiently evaluated not reviewed unknown Array rs55716016 451 10330 0.0436592 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - LEPREL1 Arg127Cys R127C not reviewed Insufficiently evaluated not reviewed unknown Array 244 10626 0.0229625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - LEPREL2 Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LEPREL2 Gly385Glu G385E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LEPREL2 Arg519Leu R519L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LEPREL2 Cys705Arg C705R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LETM1 Arg499His R499H not reviewed Insufficiently evaluated not reviewed unknown Array rs28681468 261 10758 0.024261 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - LETM1 Glu490Asp E490D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LETM2 Glu265Lys E265K not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LETMD1 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LETMD1 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array rs12379 4367 10758 0.40593 40 0 63 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - LGALS12 Gly11Arg G11R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733852 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - LGALS12 Met23Thr M23T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733846 204 10758 0.0189626 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - LGALS12 Ile136Asn I136N not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - 7 Y 2 N - - LGALS12 Ile137Asn I137N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LGALS12 Ile75Asn I75N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LGALS13 Met44Thr M44T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - LGALS14 Arg22Cys R22C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LGALS14 Arg27His R27H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LGALS14 Val16Ile V16I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737337 189 10758 0.0175683 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGALS14 Val45Ile V45I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGALS14 Cys67Arg C67R not reviewed Insufficiently evaluated not reviewed unknown Array rs4830 7643 10758 0.710448 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LGALS14 Cys96Arg C96R not reviewed Insufficiently evaluated not reviewed unknown Array rs4830 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LGALS14 Phe127Leu F127L not reviewed Insufficiently evaluated not reviewed unknown Array rs10755 7626 10758 0.708868 50 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LGALS14 Phe156Leu F156L not reviewed Insufficiently evaluated not reviewed unknown Array rs10755 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGALS2 Val119Ile V119I not reviewed Insufficiently evaluated not reviewed unknown Array rs2235339 474 10758 0.0440602 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.072 - - -4 - 0 N - - LGALS2 Thr87Ile T87I not reviewed Insufficiently evaluated not reviewed unknown Array rs73884090 337 10758 0.0313255 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - LGALS3 Pro64His P64H not reviewed Insufficiently evaluated not reviewed unknown Array rs4644 3450 9482 0.363847 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LGALS3 Thr98Pro T98P not reviewed Insufficiently evaluated not reviewed unknown Array rs4652 5429 9098 0.596725 40 0 62 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LGALS3 Gln150Glu Q150E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LGALS3 Arg183Lys R183K not reviewed Insufficiently evaluated not reviewed unknown Array rs10148371 255 9580 0.026618 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 6 - - LGALS4 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array rs8106404 335 10758 0.0311396 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.908 - - 2 - 3 - 4 - - LGALS8 Phe19Tyr F19Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2737713 6662 10758 0.61926 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LGALS8 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGALS8 Arg36Cys R36C not reviewed Insufficiently evaluated not reviewed unknown Array rs1041935 6668 10758 0.619818 31 0 47 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LGALS8 Met56Val M56V not reviewed Insufficiently evaluated not reviewed unknown Array rs1041937 7481 10758 0.695389 41 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LGALS8 Asp205Tyr D205Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2273863 979 10758 0.091002 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LGALS8 Leu212Stop L212X not reviewed Insufficiently evaluated not reviewed unknown Array rs2273865 978 10758 0.0909091 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - LGALS8 Arg184Ser R184S not reviewed Insufficiently evaluated not reviewed unknown Array rs17856495 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGALS8 Arg226Ser R226S not reviewed Insufficiently evaluated not reviewed unknown Array rs2243525 8001 10758 0.743726 54 0 84 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LGALS9 Gly5Ser G5S not reviewed Insufficiently evaluated not reviewed unknown Array rs3751093 1961 10758 0.182283 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LGALS9 Gly176Glu G176E not reviewed Insufficiently evaluated not reviewed unknown Array rs361497 2298 10750 0.213767 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 1 N - - LGALS9B Arg81Thr R81T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGALS9C Cys6Ser C6S not reviewed Insufficiently evaluated not reviewed unknown Array 638 10756 0.0593157 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LGALS9C Gly83Ala G83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - LGI2 Gln452Arg Q452R not reviewed Insufficiently evaluated not reviewed unknown Array rs2232027 310 10758 0.0288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - LGI2 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array 1902 10700 0.177757 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LGI4 Gly394Ser G394S not reviewed Insufficiently evaluated not reviewed unknown Array 158 10754 0.0146922 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - LGMN Val18Ile V18I not reviewed Insufficiently evaluated not reviewed unknown Array rs2236264 2295 10758 0.21333 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LGR4 Thr709Met T709M not reviewed Insufficiently evaluated not reviewed unknown Array rs34717439 434 10758 0.0403421 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR4 Ala480Val A480V not reviewed Insufficiently evaluated not reviewed unknown Array rs12284579 465 10758 0.0432236 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR5 Ser435Leu S435L not reviewed Insufficiently evaluated not reviewed unknown Array rs73339868 27 10758 0.00250976 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - LGR5 Val666Ala V666A not reviewed Insufficiently evaluated not reviewed unknown Array rs17109924 926 10758 0.0860755 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - LGR6 Ala15Pro A15P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR6 Ser9Leu S9L not reviewed Insufficiently evaluated not reviewed unknown Array rs10920362 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LGR6 Ala19Ser A19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LGR6 Ile133Val I133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGR6 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - LGR6 Ile272Val I272V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - -4 - 3 - 1 - - LGR6 Ala377Ser A377S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - LGR6 Ala464Ser A464S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - LGR6 Ala516Ser A516S not reviewed Insufficiently evaluated not reviewed unknown Array rs6668765 643 10758 0.0597695 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 4 - - LGR6 Val453Ala V453A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR6 Val540Ala V540A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR6 Val592Ala V592A not reviewed Insufficiently evaluated not reviewed unknown Array rs788795 5646 10758 0.524819 42 0 60 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LGR6 Val461Glu V461E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LGR6 Val548Glu V548E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LGR6 Val600Glu V600E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 5 Y 2 - 4 - - LGR6 Val636Met V636M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGR6 Val723Met V723M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGR6 Val775Met V775M not reviewed Insufficiently evaluated not reviewed unknown Array 1111 10758 0.103272 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - LGSN Pro452Leu P452L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LGSN Thr186Ile T186I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGSN Asn137His N137H not reviewed Insufficiently evaluated not reviewed unknown Array rs6454127 439 10758 0.0408068 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGTN Lys454Asn K454N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LGTN Asp346Glu D346E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - -2 - 0 N - - LGTN Asp346Gly D346G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.425 - - 4 Y 1 N - - LGTN Thr210Ile T210I not reviewed Insufficiently evaluated not reviewed unknown Array rs35252702 807 10758 0.0750139 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LHB Ala67Gly A67G not reviewed Insufficiently evaluated not reviewed unknown Array rs73942398 147 10744 0.0136821 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - LHB Trp28Arg W28R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800447 680 10758 0.0632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LHCGR Asn312Ser N312S not reviewed Insufficiently evaluated not reviewed unknown Array rs2293275 5268 10746 0.490229 46 0 67 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 3 - - LHFPL4 Gln245Stop Q245X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LHPP Thr31Lys T31K not reviewed Insufficiently evaluated not reviewed unknown Array 712 8576 0.0830224 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LHPP Gln94Arg Q94R not reviewed Insufficiently evaluated not reviewed unknown Array rs6597801 9875 10758 0.917922 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LHPP Lys155Asn K155N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - LHX1 Pro139His P139H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - 5 Y 1 N - - LHX4 Asn328Ser N328S not reviewed Insufficiently evaluated not reviewed unknown Array rs7536561 4373 10758 0.406488 37 0 48 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - LHX8 Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - LHX9 Gly166Asp G166D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LHX9 Gly175Asp G175D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIAS Thr125Pro T125P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIFR Val785Ile V785I not reviewed Insufficiently evaluated not reviewed unknown Array rs3110234 2003 10756 0.186222 15 0 16 0 0 - - - - - - - - - - - - Y - - - 0.033 Y - -4 - 1 N - - LIFR Asp578Asn D578N not reviewed Insufficiently evaluated not reviewed unknown Array rs3729740 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 2 - - LIFR His116Tyr H116Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3729734 392 10744 0.0364855 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 2 - 1 - - LIFR Ile110Val I110V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10744 0.00018615 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - LIG1 Arg409His R409H not reviewed Insufficiently evaluated not reviewed unknown Array 155 10756 0.0144106 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 1 - 10 - - LIG3 Arg867His R867H not reviewed Insufficiently evaluated not reviewed unknown Array rs3136025 324 10758 0.0301171 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIG3 Thr927Met T927M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 2 - 0 N - - LIG3 Pro986Ser P986S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 6 - - LIG4 Ala857Thr A857T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232642 380 10758 0.0353226 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LIG4 Ile658Val I658V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232641 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - LIG4 Thr9Ile T9I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1805388 1382 10606 0.130304 18 0 21 2 1 - - - - - - - - - - - - - Y - Y 0.966 - - 3 - 3 N - - LIG4 Ala3Val A3V protective Low clinical importance, Uncertain protective dominant Array rs1805389 378 10546 0.035843 2 0 2 1 1 ! Y - - 1 Y - - 4 - 2 - - Y - - 0.004 - - 2 - 2 N 0 0 One report has associated this with a decreased risk of multiple myeloma. LILRA1 Val5Leu V5L not reviewed Insufficiently evaluated not reviewed unknown Array rs28524012 1307 10758 0.121491 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LILRA1 Arg12Gly R12G not reviewed Insufficiently evaluated not reviewed unknown Array rs1974982 1163 10758 0.108106 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LILRA1 Ile39Thr I39T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - LILRA1 Ser153Gly S153G not reviewed Insufficiently evaluated not reviewed unknown Array rs10417589 2157 10758 0.200502 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LILRA1 His164Tyr H164Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.898 - - -1 - 2 N - - LILRA1 Arg191His R191H not reviewed Insufficiently evaluated not reviewed unknown Array rs10418391 1720 10758 0.159881 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - LILRA1 Leu220Pro L220P not reviewed Insufficiently evaluated not reviewed unknown Array rs373854 2312 10758 0.21491 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LILRA1 Arg289Pro R289P not reviewed Insufficiently evaluated not reviewed unknown Array rs35534776 1914 10758 0.177914 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - LILRA1 Tyr291His Y291H not reviewed Insufficiently evaluated not reviewed unknown Array rs36029771 1701 10756 0.158144 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - LILRA1 Tyr301His Y301H not reviewed Insufficiently evaluated not reviewed unknown Array rs10425981 1826 10746 0.169924 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LILRA2 His25Asn H25N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA2 His25Leu H25L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - LILRA2 Thr140Ala T140A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 1 - 0 N - - LILRA2 Gly151Ser G151S not reviewed Insufficiently evaluated not reviewed unknown Array rs73612414 5 126 0.0396825 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRA2 Pro187Leu P187L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 7 Y 0 N - - LILRA2 Leu275Phe L275F not reviewed Insufficiently evaluated not reviewed unknown Array rs7248296 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - LILRA2 Val331Gly V331G not reviewed Insufficiently evaluated not reviewed unknown Array rs7249811 9 116 0.0775862 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LILRA2 Gly361Ala G361A not reviewed Insufficiently evaluated not reviewed unknown Array rs7249154 5 126 0.0396825 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA2 Arg381Cys R381C not reviewed Insufficiently evaluated not reviewed unknown Array rs7249054 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 1 - 3 - - LILRA2 Val390Ala V390A not reviewed Insufficiently evaluated not reviewed unknown Array 4 110 0.0363636 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRA2 Val442Leu V442L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA2 Val459Leu V459L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - LILRA2 Val444Leu V444L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA2 Val461Leu V461L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - LILRA3 Tyr301His Y301H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRA3 Ala250Thr A250T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA3 Ile143Leu I143L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRA3 Leu107Arg L107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRA3 Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRA4 His438Asp H438D not reviewed Insufficiently evaluated not reviewed unknown Array rs73938668 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRA4 His408Leu H408L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRA4 His408Tyr H408Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRA4 Tyr404His Y404H not reviewed Insufficiently evaluated not reviewed unknown Array 256 10758 0.0237962 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - LILRA4 Ile155Val I155V not reviewed Insufficiently evaluated not reviewed unknown Array rs10419832 1455 10758 0.135248 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LILRA4 Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array rs2241384 1749 10758 0.162577 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LILRA6 Gln472Lys Q472K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRA6 Phe460Val F460V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - LILRA6 His405Tyr H405Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRA6 Tyr400Phe Y400F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LILRA6 Tyr400His Y400H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRA6 Val341Met V341M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA6 Asn314Asp N314D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRA6 Tyr297Ser Y297S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LILRA6 Pro288Arg P288R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - LILRA6 Arg205Gln R205Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA6 Thr201Ile T201I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRA6 Thr187Asn T187N not reviewed Insufficiently evaluated not reviewed unknown Array rs71257443 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA6 Met88Ile M88I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRA6 Leu69Trp L69W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LILRA6 Gln59Arg Q59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB1 Leu68Pro L68P not reviewed Insufficiently evaluated not reviewed unknown Array rs1061679 4389 10758 0.407975 44 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LILRB1 Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array rs34880987 622 10758 0.0578174 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LILRB1 Asp103His D103H not reviewed Insufficiently evaluated not reviewed unknown Array rs61738512 251 10758 0.0233315 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB1 Ile142Thr I142T not reviewed Insufficiently evaluated not reviewed unknown Array rs1061680 4001 10758 0.371909 42 0 54 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LILRB1 Ser155Ile S155I not reviewed Insufficiently evaluated not reviewed unknown Array rs1061681 4360 10758 0.40528 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LILRB1 Ser338Leu S338L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - LILRB1 Gly350Arg G350R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739173 1164 10758 0.108199 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LILRB1 Thr372Met T372M not reviewed Insufficiently evaluated not reviewed unknown Array rs61739171 431 10758 0.0400632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB1 Lys404Asn K404N not reviewed Insufficiently evaluated not reviewed unknown Array rs61739180 373 10758 0.0346719 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB1 Gly448Arg G448R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - 6 Y 2 N - - LILRB1 Gly449Arg G449R not reviewed Insufficiently evaluated not reviewed unknown Array rs1138736 1548 10726 0.144322 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LILRB1 Glu564Gln E564Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRB1 Glu565Gln E565Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRB1 Glu566Gln E566Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRB1 Glu564Ala E564A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - LILRB1 Glu565Ala E565A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB1 Glu566Ala E566A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB1 Glu625Lys E625K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 2 - - LILRB1 Glu626Lys E626K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB1 Glu627Lys E627K not reviewed Insufficiently evaluated not reviewed unknown Array rs16985478 1033 10758 0.0960216 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LILRB2 Arg549Gln R549Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB2 Arg550Gln R550Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - LILRB2 Asp403Asn D403N not reviewed Insufficiently evaluated not reviewed unknown Array rs4993133 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - LILRB2 Arg349Gly R349G not reviewed Insufficiently evaluated not reviewed unknown Array rs7247025 1438 10758 0.133668 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LILRB2 Arg349Trp R349W not reviewed Insufficiently evaluated not reviewed unknown Array rs7247025 4 116 0.0344828 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - LILRB2 Arg322His R322H not reviewed Insufficiently evaluated not reviewed unknown Array rs1128646 5409 10732 0.504007 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LILRB2 Val235Met V235M not reviewed Insufficiently evaluated not reviewed unknown Array rs386056 1873 10758 0.174103 18 0 26 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - LILRB2 Glu161Asp E161D not reviewed Insufficiently evaluated not reviewed unknown Array rs373032 8941 10754 0.831412 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LILRB2 Arg103His R103H not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - LILRB2 Thr40Ile T40I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - LILRB2 His20Arg H20R not reviewed Insufficiently evaluated not reviewed unknown Array rs383369 1629 10758 0.151422 18 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - LILRB3 Ser550Arg S550R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB3 Ser551Arg S551R not reviewed Insufficiently evaluated not reviewed unknown Array 220 10756 0.0204537 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB3 Gln539His Q539H not reviewed Insufficiently evaluated not reviewed unknown Array rs1053002 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRB3 Gln540His Q540H not reviewed Insufficiently evaluated not reviewed unknown Array rs1053002 1626 10756 0.151171 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LILRB3 His534Tyr H534Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - LILRB3 His535Tyr H535Y not reviewed Insufficiently evaluated not reviewed unknown Array 42 10752 0.00390625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRB3 Arg525Gly R525G not reviewed Insufficiently evaluated not reviewed unknown Array rs1132610 2004 10758 0.18628 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LILRB3 Val417Met V417M not reviewed Insufficiently evaluated not reviewed unknown Array rs1132608 841 7520 0.111835 22 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - LILRB3 His409Leu H409L not reviewed Insufficiently evaluated not reviewed unknown Array 622 7084 0.0878035 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 6 Y 1 - 1 - - LILRB3 His409Tyr H409Y not reviewed Insufficiently evaluated not reviewed unknown Array 641 7420 0.0863881 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 0 N - - LILRB3 Val341Met V341M not reviewed Insufficiently evaluated not reviewed unknown Array 476 10486 0.0453939 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 3 - 1 - - LILRB3 Asn252Asp N252D not reviewed Insufficiently evaluated not reviewed unknown Array rs393599 4549 5474 0.831019 44 0 86 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LILRB3 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 5255 9700 0.541753 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 3 - - LILRB3 Met115Leu M115L not reviewed Insufficiently evaluated not reviewed unknown Array rs56182917 6875 8056 0.853401 26 0 51 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - LILRB3 Met88Ile M88I not reviewed Insufficiently evaluated not reviewed unknown Array 4825 9976 0.483661 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.164 - - -1 - 0 N - - LILRB3 Leu69Trp L69W not reviewed Insufficiently evaluated not reviewed unknown Array 4088 9676 0.422489 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LILRB3 His61Asp H61D not reviewed Insufficiently evaluated not reviewed unknown Array 8134 9180 0.886057 15 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LILRB3 Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array rs678876 15 34 0.441176 8 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - LILRB3 Gln53Leu Q53L not reviewed Insufficiently evaluated not reviewed unknown Array 6810 7882 0.863994 12 0 24 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LILRB3 Thr6Ala T6A not reviewed Insufficiently evaluated not reviewed unknown Array 1498 10588 0.141481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LILRB3 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array 761 10574 0.071969 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - LILRB4 Phe5Leu F5L not reviewed Insufficiently evaluated not reviewed unknown Array rs28366008 3378 10758 0.313999 30 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LILRB4 Arg18Ser R18S not reviewed Insufficiently evaluated not reviewed unknown Array rs11574570 2101 10758 0.195297 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.751 - - 3 - 0 N - - LILRB4 Thr52Ala T52A not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - LILRB4 Gly172Arg G172R not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.376 - - 6 Y 1 N - - LILRB4 Asp223Gly D223G not reviewed Insufficiently evaluated not reviewed unknown Array rs731170 6503 10758 0.60448 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LILRB4 Trp258Arg W258R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - LILRB4 Arg289Gly R289G not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LILRB4 Cys330Tyr C330Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11574575 341 10758 0.0316973 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - LILRB4 Asn335Asp N335D not reviewed Insufficiently evaluated not reviewed unknown Array rs11574576 3515 10758 0.326734 36 0 43 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - LILRB4 Arg347Gly R347G not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.413 - - 6 Y 1 N - - LILRB4 Gln355His Q355H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRB4 Gln356His Q356H not reviewed Insufficiently evaluated not reviewed unknown Array 308 10754 0.0286405 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRB4 Glu370Gln E370Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRB4 Glu371Gln E371Q not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRB4 Gln413Arg Q413R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB4 Gln414Arg Q414R not reviewed Insufficiently evaluated not reviewed unknown Array rs1048801 4306 10758 0.40026 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.82 - - 0 - 0 N - - LILRB5 Arg443Pro R443P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LILRB5 Arg542Pro R542P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - LILRB5 Arg543Pro R543P not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LILRB5 Ala442Thr A442T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB5 Ala541Thr A541T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB5 Ala542Thr A542T not reviewed Insufficiently evaluated not reviewed unknown Array rs34889610 1809 10758 0.168154 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LILRB5 Asp147Gly D147G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LILRB5 Asp247Gly D247G not reviewed Insufficiently evaluated not reviewed unknown Array rs12975366 3581 10758 0.332869 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 1 N - - LIM2 Val155Met V155M not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMCH1 Ala489Pro A489P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LIMCH1 Ala501Pro A501P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - LIMCH1 Ala655Pro A655P not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - LIMCH1 Met593Thr M593T not reviewed Insufficiently evaluated not reviewed unknown Array rs11734372 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LIMCH1 Met605Thr M605T not reviewed Insufficiently evaluated not reviewed unknown Array rs11734372 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LIMCH1 Met759Thr M759T not reviewed Insufficiently evaluated not reviewed unknown Array rs11734372 6232 10758 0.57929 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LIMCH1 Ser679Pro S679P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Ser691Pro S691P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Ser845Pro S845P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - LIMCH1 Ser846Pro S846P not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Arg811Trp R811W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LIMCH1 Arg823Trp R823W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LIMCH1 Arg977Trp R977W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - LIMCH1 Arg978Trp R978W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LIMD1 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10740 0.00223464 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 1 - 1 - - LIMD1 Pro126Leu P126L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LIMD1 Val287Leu V287L not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMK1 Gly190Ala G190A not reviewed Insufficiently evaluated not reviewed unknown Array rs35827364 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 3 - 2 - - LIMK1 Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - LIMK1 Ser463Pro S463P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - LIMK2 Gly35Ser G35S not reviewed Insufficiently evaluated not reviewed unknown Array rs5997917 2586 10758 0.240379 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LIMK2 Ala65Ser A65S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LIMK2 Ala86Ser A86S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.786 - - -1 - 1 N - - LIMK2 Arg192Cys R192C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LIMK2 Arg213Cys R213C not reviewed Insufficiently evaluated not reviewed unknown Array rs34930775 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - LIMK2 Asn435Thr N435T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIMK2 Asn456Thr N456T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - LIMK2 Gln684Arg Q684R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMS1 Arg12His R12H not reviewed Insufficiently evaluated not reviewed unknown Array 2662 10756 0.24749 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 1 N - - LIMS2 Arg124Cys R124C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LIMS2 Arg129Cys R129C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LIMS2 Arg151Cys R151C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LIMS2 Arg153Cys R153C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10716 0.00531915 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LIN37 Val16Ala V16A not reviewed Insufficiently evaluated not reviewed unknown Array rs170758 118 118 1 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LINGO3 Arg426His R426H not reviewed Insufficiently evaluated not reviewed unknown Array rs7258841 870 6184 0.140686 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LINGO4 Thr444Ser T444S not reviewed Insufficiently evaluated not reviewed unknown Array rs61746299 342 10758 0.0317903 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - LINS1 Gly707Arg G707R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LINS1 Arg680Ser R680S not reviewed Insufficiently evaluated not reviewed unknown Array rs8451 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LINS1 Glu641Asp E641D not reviewed Insufficiently evaluated not reviewed unknown Array rs12157 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LINS1 Ile541Val I541V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LINS1 Ser472Thr S472T not reviewed Insufficiently evaluated not reviewed unknown Array rs2411837 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LINS1 Val406Met V406M not reviewed Insufficiently evaluated not reviewed unknown Array rs12719734 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LINS1 Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array rs11247226 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LIPA Gly23Arg G23R not reviewed Insufficiently evaluated not reviewed unknown Array rs1051339 1594 10758 0.148169 6 0 6 2 2 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 - 1 - - LIPA Thr16Pro T16P not reviewed Insufficiently evaluated not reviewed unknown Array rs1051338 2588 10758 0.240565 13 0 16 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 4 Y 2 - 3 - - LIPC Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array rs6078 467 10758 0.0434096 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIPC Asn215Ser N215S not reviewed Insufficiently evaluated not reviewed unknown Array rs6083 5029 10758 0.467466 50 0 73 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - LIPC Phe356Leu F356L not reviewed Insufficiently evaluated not reviewed unknown Array rs3829462 10182 10758 0.946458 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LIPE Arg938Ser R938S not reviewed Insufficiently evaluated not reviewed unknown Array rs7246232 191 10758 0.0177542 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.106 - - 3 - 0 N - - LIPE Arg611Cys R611C not reviewed Insufficiently evaluated not reviewed unknown Array rs34052647 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 1 - - LIPE Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745238 467 10758 0.0434096 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LIPE Ser177Thr S177T not reviewed Insufficiently evaluated not reviewed unknown Array rs16975748 467 10758 0.0434096 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.134 - - -2 - 0 N - - LIPE Tyr100His Y100H not reviewed Insufficiently evaluated not reviewed unknown Array rs16975750 862 10758 0.0801264 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - LIPF Thr161Ala T161A not reviewed Insufficiently evaluated not reviewed unknown Array rs814628 1390 10758 0.129206 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.421 - - 1 - 0 N - - LIPF Phe224Ile F224I not reviewed Insufficiently evaluated not reviewed unknown Array rs6586145 1492 10752 0.138765 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LIPF Pro348Thr P348T not reviewed Insufficiently evaluated not reviewed unknown Array rs17333991 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 4 Y 1 - 3 - - LIPG Gly26Ser G26S not reviewed Insufficiently evaluated not reviewed unknown Array rs9963243 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 1 - 10 - - LIPG Thr111Ile T111I not reviewed Insufficiently evaluated not reviewed unknown Array rs2000813 2459 10758 0.228574 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LIPG Cys311Tyr C311Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - LIPI Asp465Glu D465E not reviewed Insufficiently evaluated not reviewed unknown Array rs7278737 5378 10754 0.500093 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LIPI Glu452Lys E452K not reviewed Insufficiently evaluated not reviewed unknown Array rs2822432 4341 10746 0.403964 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LIPI Arg442Ser R442S not reviewed Insufficiently evaluated not reviewed unknown Array rs7283442 122 122 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LIPI Gly385Glu G385E not reviewed Insufficiently evaluated not reviewed unknown Array 153 10630 0.0143932 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LIPJ Glu159Gln E159Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10622 0.00254189 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LIPJ Phe200Val F200V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10728 0.00316928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - LIPJ Ile210Val I210V not reviewed Insufficiently evaluated not reviewed unknown Array rs1409136 8483 10744 0.789557 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LIPJ Tyr234His Y234H not reviewed Insufficiently evaluated not reviewed unknown Array 123 10746 0.0114461 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - LIPJ Asn251Lys N251K not reviewed Insufficiently evaluated not reviewed unknown Array 273 10758 0.0253765 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LIPK Ser36Asn S36N not reviewed Insufficiently evaluated not reviewed unknown Array rs55788049 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - LIPK Phe196Leu F196L not reviewed Insufficiently evaluated not reviewed unknown Array rs41284084 10 128 0.078125 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 1 N - - LIPK Met331Ile M331I not reviewed Insufficiently evaluated not reviewed unknown Array rs1214464 16 128 0.125 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.754 - - -1 - 0 N - - LIPK Ile391Thr I391T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - LIPM Leu229Phe L229F not reviewed Insufficiently evaluated not reviewed unknown Array rs61740492 167 3234 0.0516388 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LIPM Arg418Trp R418W not reviewed Insufficiently evaluated not reviewed unknown Array rs11202862 69 3234 0.0213358 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 1 - 3 - - LIPN Thr244Asn T244N not reviewed Insufficiently evaluated not reviewed unknown Array rs10788611 70 128 0.546875 37 0 54 0 0 - - - - - - - - - - - - - - - - 0.357 - - 1 - 0 N - - LITAF Ser138Gly S138G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LITAF Arg137Cys R137C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - LITAF Ser121Arg S121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.871 Y Y 3 - 4 N - - LITAF Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array rs4280262 1760 10758 0.163599 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - LIX1L Arg22Gln R22Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 7154 0.00866648 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LLGL1 Leu90Phe L90F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LLGL1 Ser148Gly S148G not reviewed Insufficiently evaluated not reviewed unknown Array rs2290505 8379 10758 0.778862 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LLGL1 Glu781Lys E781K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LLGL2 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array rs1671036 4536 10758 0.42164 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - LLGL2 Arg403Trp R403W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LLGL2 Phe479Leu F479L not reviewed Insufficiently evaluated not reviewed unknown Array rs1671021 5780 10754 0.537474 41 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LLGL2 Pro759Ser P759S not reviewed Insufficiently evaluated not reviewed unknown Array rs1661715 4107 10750 0.382047 33 0 45 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - LLGL2 Gly1001Ser G1001S not reviewed Insufficiently evaluated not reviewed unknown Array 144 10756 0.0133879 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LLGL2 Pro994Arg P994R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LMAN1 Met410Leu M410L not reviewed Insufficiently evaluated not reviewed unknown Array rs2298711 1093 10758 0.101599 12 0 12 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - -3 - 2 - 3 - - LMAN1 Val39Ala V39A not reviewed Insufficiently evaluated not reviewed unknown Array rs33926449 1094 10754 0.10173 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - LMAN1 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1043302 410 10758 0.0381112 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.058 Y - 0 - 1 N - - LMAN1L Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3803568 423 10756 0.0393269 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.409 - - 0 - 1 N - - LMAN1L Gly212Asp G212D not reviewed Insufficiently evaluated not reviewed unknown Array rs62621375 855 10758 0.0794757 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LMAN1L Ala407Val A407V not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - LMAN1L Arg456Gly R456G not reviewed Insufficiently evaluated not reviewed unknown Array rs74025851 315 10758 0.0292805 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - LMAN1L Arg516Met R516M not reviewed Insufficiently evaluated not reviewed unknown Array 1098 10758 0.102064 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 1 N - - LMBR1 Thr228Ala T228A not reviewed Insufficiently evaluated not reviewed unknown Array rs6957768 738 10758 0.0686001 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - LMBR1L Val369Leu V369L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - 0 - 0 N - - LMBRD1 Asp469Glu D469E not reviewed Insufficiently evaluated not reviewed unknown Array rs9354880 3364 10758 0.312698 28 0 36 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y -2 - 1 N - - LMBRD1 Phe377Ser F377S not reviewed Insufficiently evaluated not reviewed unknown Array rs73477459 4 10322 0.000387521 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 5 Y 3 N - - LMBRD2 Gln92Arg Q92R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - LMF1 Pro562Arg P562R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - LMF1 Gly36Asp G36D not reviewed Insufficiently evaluated not reviewed unknown Array 637 9696 0.0656972 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LMF2 Ser583Asn S583N not reviewed Insufficiently evaluated not reviewed unknown Array rs13056405 17 126 0.134921 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LMF2 Pro568Leu P568L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LMF2 Thr454Met T454M not reviewed Insufficiently evaluated not reviewed unknown Array rs8136495 13 110 0.118182 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LMF2 Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LMF2 Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LMLN Arg28Trp R28W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - LMLN Glu106Asp E106D not reviewed Insufficiently evaluated not reviewed unknown Array rs7373165 2439 10756 0.226757 24 0 32 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - LMNA Glu554Gln E554Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.07 Y Y -2 - 2 N - - LMO7 Val169Phe V169F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - LMO7 Leu328Phe L328F not reviewed Insufficiently evaluated not reviewed unknown Array rs2241913 612 7820 0.0782609 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LMO7 Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LMO7 Pro513Leu P513L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LMO7 Arg557Cys R557C not reviewed Insufficiently evaluated not reviewed unknown Array rs9593132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LMO7 Arg606Cys R606C not reviewed Insufficiently evaluated not reviewed unknown Array rs9593132 522 10758 0.048522 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LMO7 Val609Ile V609I not reviewed Insufficiently evaluated not reviewed unknown Array rs4884021 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LMO7 Val658Ile V658I not reviewed Insufficiently evaluated not reviewed unknown Array rs4884021 2662 10758 0.247444 38 0 44 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LMO7 Thr1005Ile T1005I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LMO7 Thr956Ile T956I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - LMO7 Met1113Thr M1113T not reviewed Insufficiently evaluated not reviewed unknown Array rs7986131 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMO7 Met1162Thr M1162T not reviewed Insufficiently evaluated not reviewed unknown Array rs7986131 7719 10758 0.717513 56 0 79 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LMO7 Pro1213Gln P1213Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - LMO7 Pro1262Gln P1262Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7988661 1396 10758 0.129764 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LMO7 Val1232Met V1232M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LMO7 Val1281Met V1281M not reviewed Insufficiently evaluated not reviewed unknown Array rs71434812 975 10758 0.0906302 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 0 N - - LMO7 Pro1234Arg P1234R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LMO7 Pro1283Arg P1283R not reviewed Insufficiently evaluated not reviewed unknown Array rs7988841 1155 10758 0.107362 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LMO7 Ser1329Leu S1329L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LMOD1 Leu587Ile L587I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LMOD1 Thr295Met T295M not reviewed Insufficiently evaluated not reviewed unknown Array rs2820312 2792 10082 0.276929 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LMOD2 Lys479Asn K479N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - LMTK2 Pro30Ala P30A not reviewed Insufficiently evaluated not reviewed unknown Array 282 7032 0.0401024 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 2 - 1 - 4 - - LMTK2 Ile693Thr I693T not reviewed Insufficiently evaluated not reviewed unknown Array rs56204700 221 10750 0.0205581 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - LMTK2 Leu780Met L780M not reviewed Insufficiently evaluated not reviewed unknown Array rs11765552 4306 10758 0.40026 16 0 22 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - LMTK2 Glu1412Lys E1412K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - 0 - 1 N - - LMTK3 Ser1088Asn S1088N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LMX1B Ser339Asn S339N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LMX1B Asp340Asn D340N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LNPEP Arg75Gln R75Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - LNPEP Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - LNPEP Val359Ile V359I not reviewed Insufficiently evaluated not reviewed unknown Array rs41276279 454 10758 0.0422012 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - LNPEP Val373Ile V373I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LNPEP Ala379Asp A379D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LNPEP Ala393Asp A393D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - LNPEP Ala749Thr A749T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303138 770 10758 0.0715746 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.688 - - 1 - 0 N - - LNPEP Ala763Thr A763T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303138 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - LNPEP Ile949Val I949V not reviewed Insufficiently evaluated not reviewed unknown Array rs11746232 803 10758 0.0746421 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LNPEP Ile963Val I963V not reviewed Insufficiently evaluated not reviewed unknown Array rs11746232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - LNPEP Ala1003Ser A1003S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - LNPEP Ala989Ser A989S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LNX1 Gln354Arg Q354R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LNX1 Gln450Arg Q450R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - LNX1 Asn157Ile N157I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LNX1 Asn253Ile N253I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - LNX1 Asn157Tyr N157Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LNX1 Asn253Tyr N253Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 1 N - - LNX2 Glu212Asp E212D not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.154 - - -2 - 0 N - - LNX2 Ser198Pro S198P not reviewed Insufficiently evaluated not reviewed unknown Array rs8002697 6360 10758 0.591188 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LOC100130311 Trp152Stop W152X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC100130932 Pro36Ser P36S not reviewed Insufficiently evaluated not reviewed unknown Array rs4926220 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC100130958 Thr16Ala T16A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC100130958 Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100130958 Pro210Thr P210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC100131897 Arg240His R240H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC100131897 Ser230Arg S230R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC100132247 Leu271Val L271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100132247 Leu355Pro L355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC100132247 Ala521Pro A521P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC100170229 Lys228Arg K228R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC100170229 Ser639Arg S639R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC100170229 Asp640Asn D640N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC100170229 Asp694Asn D694N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC100271715 Ser582Pro S582P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC126075 Val77Leu V77L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC126075 Cys278Ser C278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC150786 Gly115Arg G115R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC152118 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - LOC152118 Thr82Ile T82I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC153328 Thr102Met T102M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC196415 Leu131Phe L131F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC199800 Gly27Cys G27C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC199800 Ala50Glu A50E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC200030 Tyr661His Y661H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC200030 Arg271Leu R271L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC202051 Ser28Phe S28F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC255783 Arg79Leu R79L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC283999 Arg148His R148H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC284009 Thr147Ile T147I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC284009 Phe34Leu F34L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC284297 Gly536Ser G536S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC284297 Ala601Val A601V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC284297 Gly830Arg G830R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC284297 Leu976Pro L976P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC284297 Thr1182Ser T1182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC284297 Thr1183Met T1183M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC284297 His1186Gln H1186Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC284297 Met1274Ile M1274I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC284297 Pro1305Ala P1305A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC284297 Pro1456Ser P1456S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC284297 Gly1536Glu G1536E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC285550 Asp2His D2H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC285550 Ser443Asn S443N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC285550 His545Asn H545N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC285679 His271Gln H271Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC285679 Trp236Arg W236R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC285679 Ser214Asn S214N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC285679 Pro67Arg P67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC285679 Asp22His D22H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC286238 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array rs28550932 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC286238 Asn41Tyr N41Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28429833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC339047 Val270Leu V270L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC342346 Asp49Asn D49N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC342346 Val118Phe V118F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC342346 Ser204Phe S204F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC342346 Ile265Val I265V not reviewed Insufficiently evaluated not reviewed unknown Array rs1256768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC342346 Pro330Arg P330R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC342346 Asp486Val D486V not reviewed Insufficiently evaluated not reviewed unknown Array rs2450386 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC342346 Arg745Thr R745T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC342346 Ser1048Cys S1048C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC360030 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC375190 Glu38Gln E38Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC375190 Gly318Asp G318D not reviewed Insufficiently evaluated not reviewed unknown Array rs2288072 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC375337 Cys43Arg C43R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC375337 Pro88Gln P88Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC375337 Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC375337 Gln483Arg Q483R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC375337 Lys796Glu K796E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC375337 Cys822Phe C822F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC375337 Thr1318Ile T1318I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC375337 Gln1352Arg Q1352R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC387787 Thr190Ser T190S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC387787 Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC387885 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC388199 Thr92Ser T92S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC388199 Pro99Leu P99L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC388199 Pro249Leu P249L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC388199 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC388910 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC388910 Gly12Glu G12E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC388910 Glu101Lys E101K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC388931 Met355Thr M355T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC388946 Gln82Stop Q82X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC388946 Arg142Gln R142Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC388946 Glu154Lys E154K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC389257 Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC389257 Arg63Pro R63P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC389257 Pro70Ala P70A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC389257 Arg467Gln R467Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC389333 Val831Phe V831F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - LOC389333 Val763Ala V763A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC389333 Gln245Arg Q245R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC389333 Gly122Ser G122S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC389813 Ala623Asp A623D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC390594 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC390748 Gly214Asp G214D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC391343 Asp185His D185H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC391343 Met183Leu M183L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Asp168Glu D168E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC391343 Met155Leu M155L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Gly150Glu G150E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC391343 Met141Leu M141L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Met127Leu M127L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Gly122Glu G122E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC391343 Arg110Trp R110W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC391343 His104Gln H104Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC391343 His101Asp H101D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC391343 Met99Leu M99L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Gly94Glu G94E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC391343 Asp87His D87H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC391343 Met85Leu M85L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Asp70Glu D70E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC391343 Met57Leu M57L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Gly52Glu G52E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC391343 Met43Leu M43L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC391343 Gly38Glu G38E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC391343 His34Gln H34Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC391343 Arg26Trp R26W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC391343 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC392145 Arg35Gln R35Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC392145 Ala114Pro A114P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC392145 Thr130Ala T130A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC400696 Arg138Lys R138K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC400713 Val12Met V12M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC400713 Pro17Ser P17S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC400713 Glu38Gly E38G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC400713 Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC400713 Lys154Arg K154R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC401399 Pro826Leu P826L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC401399 Arg134Leu R134L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC401399 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC402644 Phe29Val F29V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC402644 Asp13Asn D13N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC440093 His39Pro H39P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC440093 Gly13Ser G13S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC440498 Lys55Asn K55N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC440563 Asn151Asp N151D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC440563 His145Arg H145R not reviewed Insufficiently evaluated not reviewed unknown Array rs28713604 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC440563 Pro134Leu P134L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC440563 Asp121Gly D121G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC441294 Asn394Asp N394D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC441294 Glu421Gly E421G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC441869 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC441956 Trp24Arg W24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC553158 Asn39Thr N39T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC553158 Pro298Leu P298L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC553158 Gly424Arg G424R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC553158 Arg426Leu R426L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC553158 Arg441Cys R441C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC643677 Glu2111Gln E2111Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC643677 Gln1887Pro Q1887P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC643677 Ala1822Pro A1822P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC643677 Asn1704His N1704H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC643677 Arg1070Ser R1070S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC643677 Leu1005Pro L1005P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC643677 Lys950Thr K950T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC650293 Ala97Glu A97E not reviewed Insufficiently evaluated not reviewed unknown Array rs3975564 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC650293 Phe110Leu F110L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC650293 His133Gln H133Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC650293 Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC650293 Trp173Cys W173C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC650293 Val183Phe V183F not reviewed Insufficiently evaluated not reviewed unknown Array rs9762741 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC650293 Leu185Ile L185I not reviewed Insufficiently evaluated not reviewed unknown Array rs9759877 1 0 1 0 0 - 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- - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC728358 Asp65Ala D65A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC728621 Gly146Val G146V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC728621 His772Asn H772N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC728661 Val312Ile V312I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC728819 Cys205Phe C205F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC729085 His227Tyr H227Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC729085 Gln460Arg Q460R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC729747 His520Asp H520D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC729920 Ser19Arg S19R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC729993 Met237Thr M237T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC729993 Ala273Gly A273G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC731220 Met412Thr M412T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC731220 Ala373Gly A373G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC731220 Ala373Ser A373S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC731220 His125Arg H125R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC731220 Gln53Leu Q53L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC91431 Ile393Val I393V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC91431 Ser390Leu S390L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC91431 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOH12CR1 Asp191Asn D191N not reviewed Insufficiently evaluated not reviewed unknown Array rs3751262 697 10758 0.064789 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.124 - - -1 - 0 N - - LONP1 Val641Ile V641I not reviewed Insufficiently evaluated not reviewed unknown Array rs34402166 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - LONP1 Arg241Gln R241Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11085147 705 10758 0.0655326 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - LONP1 Ala229Val A229V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LONP1 Glu87Asp E87D not reviewed Insufficiently evaluated not reviewed unknown Array rs34413649 61 9294 0.00656337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.187 - - -2 - 1 - 2 - - LONP1 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - LONP2 His534Leu H534L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LONP2 Ser825Asn S825N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - LONP2 Asp828His D828H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - LONP2 Asp828Ala D828A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - LONRF1 Ile265Leu I265L not reviewed Insufficiently evaluated not reviewed unknown Array rs1139354 584 9406 0.062088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LONRF1 Thr166Pro T166P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - LONRF2 Leu426Pro L426P not reviewed Insufficiently evaluated not reviewed unknown Array rs4851287 7638 10758 0.709983 56 0 88 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LONRF2 Asp110Glu D110E not reviewed Insufficiently evaluated not reviewed unknown Array 32 126 0.253968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LONRF2 Gln25His Q25H not reviewed Insufficiently evaluated not reviewed unknown Array 1475 4732 0.311708 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - LONRF3 Trp360Leu W360L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LONRF3 Trp401Leu W401L not reviewed Insufficiently evaluated not reviewed unknown Array 26 8761 0.0029677 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 5 Y 1 N - - LOR Ser29Gly S29G not reviewed Insufficiently evaluated not reviewed unknown Array rs6661601 2051 9600 0.213646 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LOR Tyr189Asp Y189D not reviewed Insufficiently evaluated not reviewed unknown Array 13 2800 0.00464286 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOR Gly245Arg G245R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOR Ser285Phe S285F not reviewed Insufficiently evaluated not reviewed unknown Array rs56816110 47 8100 0.00580247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - LOX Arg158Gln R158Q benign Insufficiently evaluated benign unknown Array rs1800449 1853 10742 0.1725 12 0 13 0 0 1 Y - - - - - - - - - - - Y - - 0.992 - - 0 - 3 N - - LOXHD1 Arg1084His R1084H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOXHD1 Arg2133His R2133H not reviewed Insufficiently evaluated not reviewed unknown Array rs74316327 203 3234 0.0627706 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LOXHD1 Arg434His R434H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOXHD1 Ala2036Val A2036V not reviewed Insufficiently evaluated not reviewed unknown Array rs1377016 974 3234 0.301175 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LOXHD1 Ala337Val A337V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXHD1 Ala987Val A987V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXHD1 Glu1623Gly E1623G not reviewed Insufficiently evaluated not reviewed unknown Array rs12606417 295 3234 0.0912183 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LOXHD1 Glu512Gly E512G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOXHD1 Arg1155Gly R1155G not reviewed Insufficiently evaluated not reviewed unknown Array rs1893566 2561 3234 0.791899 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LOXHD1 Arg44Gly R44G not reviewed Insufficiently evaluated not reviewed unknown Array rs1893566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOXHD1 Glu951Lys E951K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOXHD1 Val825Met V825M not reviewed Insufficiently evaluated not reviewed unknown Array 321 3234 0.0992579 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LOXHD1 Gly632Cys G632C not reviewed Insufficiently evaluated not reviewed unknown Array 48 3234 0.0148423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOXHD1 Gly626Cys G626C not reviewed Insufficiently evaluated not reviewed unknown Array 48 3234 0.0148423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOXHD1 Val363Ile V363I not reviewed Insufficiently evaluated not reviewed unknown Array rs10163657 245 3234 0.0757576 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LOXHD1 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 101 3234 0.0312307 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOXL1 Arg141Leu R141L benign Low clinical importance, Uncertain benign other Array rs1048661 2646 10340 0.255899 3 0 1 3 3 ! Y 0 Y 0 Y - - - - - - - Y - Y 0.998 - - 6 Y 3 N 0 0 Associated with exfoliative glaucoma & syndrome (XFG & XFS) in various populations, but with contradicting results (protective in Caucasians, pathogenic in Japanese). Based on this it seems the variation itself -- although it affects protein structure -- is not itself causing disease. Instead it is likely associated with other nearby causal variants. As such, it is evaluated as benign by GET-Evidence (which focuses on reporting causal variants). See detailed variant report for disease risk associations. LOXL1 Gly153Asp G153D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3825942 2331 10564 0.220655 2 0 1 1 1 - - - - - - - - - - - - - Y Y Y 0.135 - - 4 Y 2 N - - LOXL1 Ser159Ala S159A not reviewed Insufficiently evaluated not reviewed unknown Array 542 10616 0.051055 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - -1 - 1 N - - LOXL2 Met570Leu M570L not reviewed Insufficiently evaluated not reviewed unknown Array rs1063582 7976 10758 0.741402 54 0 82 0 0 - - - - - - - - - - - - - - - - 0.333 - - -3 - 0 N - - LOXL3 Ile615Phe I615F not reviewed Insufficiently evaluated not reviewed unknown Array rs17010021 353 10758 0.0328128 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.791 - - 2 - 1 N - - LOXL3 Gln296His Q296H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - LOXL3 Arg106Leu R106L not reviewed Insufficiently evaluated not reviewed unknown Array rs73949682 272 10758 0.0252835 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.081 - - 6 Y 0 N - - LOXL4 Asp672Gly D672G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - LOXL4 Ala657Thr A657T not reviewed Insufficiently evaluated not reviewed unknown Array rs74153530 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 0 N - - LOXL4 Glu489Lys E489K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LOXL4 Asp405Ala D405A not reviewed Insufficiently evaluated not reviewed unknown Array rs1983864 2676 10758 0.248745 24 0 31 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 1 N - - LOXL4 Arg379Cys R379C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - LOXL4 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33995374 1235 10752 0.114862 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - LOXL4 Arg136Ser R136S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - LPA Arg2016Cys R2016C not reviewed Insufficiently evaluated not reviewed unknown Array rs3124784 2788 10758 0.259156 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LPA Ile1891Met I1891M pathogenic Insufficiently evaluated pathogenic unknown Array rs3798220 173 10758 0.0160811 5 0 5 3 3 2 Y - - 2 Y - - 2 Y 4 - - - - - - - - -1 - 2 - 10 - - This variant strongly associated with an increase in Lp(a) lipoprotein levels, associated with an increased risk of coronary disease in a dominant or incomplete dominant manner. This variant is also referred to as I4399M in literature; this discrepancy is due to a highly variable number of kringle repeats in the protein (2-43), our version for inferring amino acid changes from genetic variants uses an assembly with 15 copies. LPA Gly1822Ala G1822A not reviewed Insufficiently evaluated not reviewed unknown Array rs41265936 240 10758 0.022309 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LPA Met1679Thr M1679T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801693 8003 10758 0.743912 47 0 78 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LPA Asn1657Lys N1657K not reviewed Insufficiently evaluated not reviewed unknown Array rs59566810 172 10300 0.016699 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LPA Pro1453Leu P1453L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LPA Pro1453Arg P1453R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LPA Thr1399Pro T1399P not reviewed Insufficiently evaluated not reviewed unknown Array rs41272110 1124 10726 0.104792 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LPA Leu1372Val L1372V not reviewed Insufficiently evaluated not reviewed unknown Array rs7765781 4072 10000 0.4072 38 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LPA Leu1358Val L1358V not reviewed Insufficiently evaluated not reviewed unknown Array rs7765803 4225 10476 0.403303 38 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LPAL2 Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array rs41267805 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 7 Y 0 N - - LPAR3 Val288Met V288M not reviewed Insufficiently evaluated not reviewed unknown Array rs58970370 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPAR4 Ile157Val I157V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - -4 - 1 N - - LPCAT1 Met427Thr M427T not reviewed Insufficiently evaluated not reviewed unknown Array rs35452723 2129 10758 0.197899 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.615 - - 2 - 0 N - - LPCAT1 Ala128Gly A128G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - LPCAT2 Met163Ile M163I not reviewed Insufficiently evaluated not reviewed unknown Array rs837550 6020 10758 0.559584 40 0 54 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LPCAT3 Ile217Thr I217T not reviewed Insufficiently evaluated not reviewed unknown Array rs1984564 2615 10758 0.243075 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LPHN1 Gly1260Ser G1260S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LPHN1 Gly1265Ser G1265S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LPHN1 Trp1059Stop W1059X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LPHN1 Trp1064Stop W1064X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LPHN1 Glu745Asp E745D not reviewed Insufficiently evaluated not reviewed unknown Array rs41276898 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LPHN1 Glu750Asp E750D not reviewed Insufficiently evaluated not reviewed unknown Array rs41276898 753 10758 0.0699944 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LPHN2 Pro456Ser P456S not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - LPHN2 Tyr1295Cys Y1295C not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LPHN3 Pro1462Leu P1462L not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LPIN1 Phe48Leu F48L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - LPIN1 Val494Met V494M not reviewed Insufficiently evaluated not reviewed unknown Array rs33997857 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 2 - 1 - - LPIN1 Pro610Ser P610S not reviewed Insufficiently evaluated not reviewed unknown Array rs4669781 413 10758 0.03839 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 3 - 2 - 2 - - LPIN3 Arg61Trp R61W not reviewed Insufficiently evaluated not reviewed unknown Array rs41277016 328 10758 0.0304889 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - LPIN3 Gln679His Q679H not reviewed Insufficiently evaluated not reviewed unknown Array rs12625565 3185 10758 0.296059 32 0 37 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LPO Thr105Ile T105I not reviewed Insufficiently evaluated not reviewed unknown Array rs8178318 309 10758 0.0287228 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - LPO Val338Met V338M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPO Val421Met V421M not reviewed Insufficiently evaluated not reviewed unknown Array rs2301870 1833 10758 0.170385 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LPP Thr146Ala T146A not reviewed Insufficiently evaluated not reviewed unknown Array rs35417432 645 10758 0.0599554 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LPP Ser259Pro S259P not reviewed Insufficiently evaluated not reviewed unknown Array rs35940579 168 10758 0.0156163 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - LPP Tyr346His Y346H not reviewed Insufficiently evaluated not reviewed unknown Array rs7645635 2208 10756 0.205281 22 0 33 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - LPPR2 Leu77Val L77V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPPR2 Thr278Ser T278S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LPPR2 Arg335His R335H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LPPR4 Gln2Lys Q2K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRAT Leu18Ile L18I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.035 Y Y -2 - 2 N - - LRBA Ser2809Leu S2809L not reviewed Insufficiently evaluated not reviewed unknown Array rs2290846 2050 10758 0.190556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRBA Ala2704Thr A2704T not reviewed Insufficiently evaluated not reviewed unknown Array rs3749574 2356 10758 0.219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRBA Thr2533Pro T2533P not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRBA Arg1997Cys R1997C not reviewed Insufficiently evaluated not reviewed unknown Array rs35879351 238 10758 0.0221231 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRBA Ala1090Gly A1090G not reviewed Insufficiently evaluated not reviewed unknown Array rs1782360 1233 10756 0.114634 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRCH1 Ser234Pro S234P not reviewed Insufficiently evaluated not reviewed unknown Array rs842381 10741 10758 0.99842 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRCH2 Glu261Lys E261K not reviewed Insufficiently evaluated not reviewed unknown Array 17 7277 0.00233613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - LRCH3 Pro284Leu P284L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LRCH3 Asp507Asn D507N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.208 - - -1 - 1 N - - LRCH3 Pro522Leu P522L not reviewed Insufficiently evaluated not reviewed unknown Array rs36078463 914 10758 0.08496 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - LRCH3 Ser702Gly S702G not reviewed Insufficiently evaluated not reviewed unknown Array rs73089368 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - LRCH4 Val642Met V642M not reviewed Insufficiently evaluated not reviewed unknown Array rs3197597 1089 10700 0.101776 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.595 - - 0 - 0 N - - LRCH4 Pro493Ser P493S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 3 - 1 N - - LRCH4 Pro338Ser P338S not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - LRDD Glu365Ala E365A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRDD Glu511Ala E511A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 3 - 2 N - - LRDD Gln185Arg Q185R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRDD Gln331Arg Q331R not reviewed Insufficiently evaluated not reviewed unknown Array rs10902221 4728 10750 0.439814 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRDD Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array rs61748610 310 10640 0.0291353 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 1 - 7 - - LRFN1 Arg664Trp R664W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.715 - - 7 Y 1 N - - LRFN2 Arg258Gln R258Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73732617 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - LRFN2 Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731040 1343 10758 0.124837 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRFN3 Ala14Val A14V not reviewed Insufficiently evaluated not reviewed unknown Array rs34933126 717 10458 0.06856 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRFN3 Ala549Ser A549S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10754 0.00464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - -1 - 1 N - - LRFN4 Val340Ala V340A not reviewed Insufficiently evaluated not reviewed unknown Array rs3741194 1815 10456 0.173585 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.272 - - 2 - 0 N - - LRG1 Pro133Ser P133S not reviewed Insufficiently evaluated not reviewed unknown Array rs966384 2767 10706 0.258453 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.278 - - 3 - 0 N - - LRG1 Gly64Ser G64S not reviewed Insufficiently evaluated not reviewed unknown Array rs7251081 1232 10758 0.114519 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRGUK Ile252Val I252V not reviewed Insufficiently evaluated not reviewed unknown Array rs35615395 303 10758 0.0281651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.846 - - -4 - 1 N - - LRGUK Asp302Tyr D302Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17167553 1362 10758 0.126603 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.872 - - 7 Y 1 N - - LRGUK Arg433Cys R433C not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LRGUK Arg552His R552H not reviewed Insufficiently evaluated not reviewed unknown Array rs34890031 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - LRGUK Ala661Val A661V not reviewed Insufficiently evaluated not reviewed unknown Array rs35149449 739 10758 0.0686931 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRGUK Met678Thr M678T not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 2 - 2 N - - LRIG1 Gln1053Pro Q1053P not reviewed Insufficiently evaluated not reviewed unknown Array rs2279290 1747 10758 0.162391 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 1 N - - LRIG1 Ala1050Thr A1050T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRIG1 Pro1031Arg P1031R not reviewed Insufficiently evaluated not reviewed unknown Array rs332374 815 10758 0.0757576 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 0 N - - LRIG1 Gly993Ala G993A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 1 - 2 - 4 - - LRIG1 Ala957Thr A957T not reviewed Insufficiently evaluated not reviewed unknown Array rs332373 885 10758 0.0822644 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRIG1 Gly926Ser G926S not reviewed Insufficiently evaluated not reviewed unknown Array rs9877201 1340 10758 0.124558 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRIG1 Met615Val M615V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306272 2520 10758 0.234244 27 0 40 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - LRIG1 Ala550Thr A550T not reviewed Insufficiently evaluated not reviewed unknown Array rs61751731 529 10758 0.0491727 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 0 N - - LRIG1 Lys249Arg K249R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRIG1 Leu26Val L26V not reviewed Insufficiently evaluated not reviewed unknown Array 5166 6506 0.794036 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - LRIG1 Leu24Val L24V not reviewed Insufficiently evaluated not reviewed unknown Array rs1403626 5340 6726 0.793934 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - LRIG2 Val469Ile V469I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731624 199 10758 0.0184979 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.16 - - -4 - 0 N - - LRIG2 Val491Phe V491F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - LRIG3 Glu498Lys E498K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIG3 Glu558Lys E558K not reviewed Insufficiently evaluated not reviewed unknown Array rs60376933 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - LRIT1 Ser591Gly S591G not reviewed Insufficiently evaluated not reviewed unknown Array rs3814211 417 10758 0.0387619 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.441 - - 2 - 1 N - - LRIT1 Arg555Gly R555G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - LRIT1 Ser419Thr S419T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - LRIT1 Pro389Thr P389T not reviewed Insufficiently evaluated not reviewed unknown Array rs12262099 2038 10758 0.18944 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.023 - - 4 Y 0 N - - LRIT2 Pro525Thr P525T not reviewed Insufficiently evaluated not reviewed unknown Array rs74145770 532 10758 0.0494516 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRIT2 Thr510Pro T510P not reviewed Insufficiently evaluated not reviewed unknown Array rs6585847 5950 10752 0.553385 47 0 64 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LRIT2 Val496Ala V496A not reviewed Insufficiently evaluated not reviewed unknown Array rs12217769 1895 10756 0.176181 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRIT2 Leu220Phe L220F not reviewed Insufficiently evaluated not reviewed unknown Array rs11200925 1916 10758 0.1781 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - LRIT2 Lys179Asn K179N not reviewed Insufficiently evaluated not reviewed unknown Array rs11200927 241 10758 0.0224019 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.827 - - 1 - 2 - 3 - - LRIT2 Cys28Tyr C28Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 3 - - LRIT3 Arg66Gly R66G not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 3 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - LRIT3 Pro124Thr P124T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745483 80 3234 0.0247372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 4 Y 1 N - - LRIT3 Ser130Asn S130N not reviewed Insufficiently evaluated not reviewed unknown Array rs4698797 1965 3234 0.607607 40 0 54 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - LRIT3 Leu144Phe L144F not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIT3 Met291Leu M291L not reviewed Insufficiently evaluated not reviewed unknown Array rs764205 6169 10758 0.573434 39 0 53 0 0 - - - - - - - - - - - - - - - - 0.205 - - -3 - 0 N - - LRIT3 Ala441Thr A441T not reviewed Insufficiently evaluated not reviewed unknown Array rs2347131 1882 10758 0.17494 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRIT3 Thr458Met T458M not reviewed Insufficiently evaluated not reviewed unknown Array rs2347132 1881 10758 0.174847 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRMP Ser63Leu S63L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRMP Leu141Val L141V not reviewed Insufficiently evaluated not reviewed unknown Array rs7969931 7663 10758 0.712307 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRMP Cys197Ser C197S not reviewed Insufficiently evaluated not reviewed unknown Array rs1908946 4595 10758 0.427124 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRMP Lys408Glu K408E not reviewed Insufficiently evaluated not reviewed unknown Array rs59195395 292 10756 0.0271476 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP1 Arg507His R507H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - LRP1 Gln2900Pro Q2900P not reviewed Insufficiently evaluated not reviewed unknown Array rs7397167 10635 10758 0.988567 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LRP1 Phe4413Ser F4413S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRP10 Ser215Pro S215P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - LRP11 Thr281Met T281M not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 1 - 3 - - LRP11 Leu211Arg L211R not reviewed Insufficiently evaluated not reviewed unknown Array rs61745766 496 10758 0.0461052 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - LRP11 Pro92Arg P92R not reviewed Insufficiently evaluated not reviewed unknown Array rs9322225 2390 7094 0.336904 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 1 N - - LRP1B Gln3734Lys Q3734K not reviewed Insufficiently evaluated not reviewed unknown Array rs35546150 443 10756 0.0411863 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRP1B Gly3622Ala G3622A not reviewed Insufficiently evaluated not reviewed unknown Array rs72990625 3 10732 0.000279537 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - LRP1B Arg2486Ser R2486S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 3 - 2 N - - LRP1B Gly1951Arg G1951R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - LRP1B Thr1909Ser T1909S not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - LRP1B Arg636Gln R636Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - LRP1B Gln48Arg Q48R not reviewed Insufficiently evaluated not reviewed unknown Array rs12990449 1925 10758 0.178937 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.508 - - 0 - 0 N - - LRP2 Met4601Ile M4601I not reviewed Insufficiently evaluated not reviewed unknown Array rs34564141 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.954 - Y -1 - 3 N - - LRP2 Ile4210Leu I4210L not reviewed Insufficiently evaluated not reviewed unknown Array rs4667591 6474 10758 0.601785 36 0 47 0 0 - - - - - - - - - - - - Y - - - 0.993 - Y -2 - 3 - 1 - - LRP2 Lys4094Glu K4094E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2075252 8595 10758 0.79894 50 0 80 2 2 - - - - - - - - - - - - Y - - Y - - Y 0 - 3 N 3 - - Associated with hearing loss with cisplatin. LRP2 Arg3888His R3888H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 1 - 3 N - - LRP2 Asp3789Asn D3789N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y -1 - 3 N - - LRP2 Ala2872Thr A2872T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228171 2581 10758 0.239914 21 0 24 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 - 2 - - LRP2 Arg2820Ser R2820S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.922 - Y 3 - 3 N - - LRP2 Asn2632Asp N2632D not reviewed Insufficiently evaluated not reviewed unknown Array rs17848169 298 10758 0.0277003 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.168 - Y -1 - 1 N - - LRP2 Pro2313Leu P2313L not reviewed Insufficiently evaluated not reviewed unknown Array rs73035708 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 7 Y 3 N - - LRP2 Ser1433Thr S1433T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.293 - Y -2 - 2 N - - LRP2 Gly669Asp G669D not reviewed Insufficiently evaluated not reviewed unknown Array rs34291900 265 10758 0.0246328 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 4 Y 3 N - - LRP2 Pro325Gln P325Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 4 Y 3 N - - LRP2 Gly259Arg G259R not reviewed Insufficiently evaluated not reviewed unknown Array rs34693334 598 10758 0.0555865 6 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 6 Y 1 N - - LRP2 Asn83Ser N83S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229263 3668 10758 0.340956 33 0 45 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 0 - 1 N - - LRP3 Val708Ala V708A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745974 8537 10376 0.822764 43 0 76 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - LRP4 Arg1646Gln R1646Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3816614 7088 10758 0.658859 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRP4 Ser1554Gly S1554G not reviewed Insufficiently evaluated not reviewed unknown Array rs2306029 4541 10758 0.422104 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRP4 Ala1203Val A1203V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306033 964 10758 0.0896077 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRP4 Ile1086Val I1086V not reviewed Insufficiently evaluated not reviewed unknown Array rs6485702 5536 10758 0.514594 33 0 49 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LRP4 Asn501His N501H not reviewed Insufficiently evaluated not reviewed unknown Array 342 10758 0.0317903 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP4 Gly333Arg G333R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744209 59 10758 0.00548429 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP4 Ile84Thr I84T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRP5 Lys88Arg K88R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y -3 - 2 N - - LRP5 Leu987Met L987M not reviewed Insufficiently evaluated not reviewed unknown Array rs61370283 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - LRP5 Ala1267Val A1267V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - LRP5 Ala1330Val A1330V pathogenic Low clinical importance, Uncertain pathogenic other Array rs3736228 1186 10746 0.110367 17 0 17 3 3 1 Y - - 3 Y 0 Y 2 Y 4 Y Y - Y Y - Y Y 2 - 4 N 10 0 0 In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density. LRP5L Glu59Lys E59K not reviewed Insufficiently evaluated not reviewed unknown Array rs58905020 551 10752 0.0512463 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.829 - - 0 - 0 N - - LRP6 Val1062Ile V1062I not reviewed Insufficiently evaluated not reviewed unknown Array rs2302685 9062 10758 0.84235 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LRP6 Val483Ile V483I not reviewed Insufficiently evaluated not reviewed unknown Array rs7975614 658 10758 0.0611638 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LRP8 Arg689Gln R689Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP8 Arg782Gln R782Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP8 Arg893Gln R893Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP8 Arg952Gln R952Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5174 3121 10758 0.29011 16 0 17 2 2 3 Y - - - - - - - - - - - Y - Y - - - 0 - 2 N - - LRP8 Ser617Stop S617X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRP8 Ser651Stop S651X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRP8 Ser821Stop S821X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRP8 Arg360Pro R360P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRP8 Arg401Pro R401P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRP8 Arg530Pro R530P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRP8 Met237Thr M237T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRP8 Met278Thr M278T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRP8 Met407Thr M407T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRP8 Leu167Arg L167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP8 Leu296Arg L296R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP8 Asp46Glu D46E not reviewed Insufficiently evaluated not reviewed unknown Array rs3820198 5625 10758 0.522867 44 0 69 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LRP8 Gln25Arg Q25R not reviewed Insufficiently evaluated not reviewed unknown Array rs4926972 3162 5094 0.62073 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRPAP1 Asp211Asn D211N not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - LRPAP1 Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array rs35108689 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.104 - - -4 - 0 N - - LRPPRC Val1124Gly V1124G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.589 Y - 8 Y 2 N - - LRPPRC Thr478Ala T478A not reviewed Insufficiently evaluated not reviewed unknown Array rs35035668 195 10758 0.018126 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 1 - 1 N - - LRRC1 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs9349688 749 10754 0.0696485 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.174 - - -4 - 0 N - - LRRC15 Leu286Pro L286P not reviewed Insufficiently evaluated not reviewed unknown Array rs13070515 108 128 0.84375 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRC15 Leu292Pro L292P not reviewed Insufficiently evaluated not reviewed unknown Array rs13070515 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC15 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs13060627 95 126 0.753968 50 0 76 0 0 - - - - - - - - - - - - - - - - 0.767 - - -4 - 0 N - - LRRC15 Ile270Val I270V not reviewed Insufficiently evaluated not reviewed unknown Array rs13060627 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRC15 Val37Met V37M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - LRRC15 Val43Met V43M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC16A Arg115Thr R115T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10140 0.00197239 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC16B Leu1022Met L1022M not reviewed Insufficiently evaluated not reviewed unknown Array rs10146906 5009 10758 0.465607 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - LRRC16B Gly1161Val G1161V not reviewed Insufficiently evaluated not reviewed unknown Array 499 10758 0.0463841 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 8 Y 2 N - - LRRC16B Arg1312Trp R1312W not reviewed Insufficiently evaluated not reviewed unknown Array rs62621245 259 10704 0.0241966 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.278 - - 7 Y 1 N - - LRRC17 Lys119Glu K119E not reviewed Insufficiently evaluated not reviewed unknown Array rs3800939 493 10758 0.0458264 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 1 - - LRRC17 Gly187Ala G187A not reviewed Insufficiently evaluated not reviewed unknown Array rs1057066 1421 10758 0.132088 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.114 - - 1 - 0 N - - LRRC17 Glu214Asp E214D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LRRC17 Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - LRRC18 Thr139Ile T139I not reviewed Insufficiently evaluated not reviewed unknown Array rs11101561 1365 10758 0.126882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 1 N - - LRRC18 Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array rs17772611 1505 10758 0.139896 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - LRRC18 Gly7Val G7V not reviewed Insufficiently evaluated not reviewed unknown Array rs7094610 2862 10758 0.266035 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - LRRC19 Thr282Met T282M not reviewed Insufficiently evaluated not reviewed unknown Array rs41272237 546 10758 0.0507529 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRRC2 Ala145Glu A145E not reviewed Insufficiently evaluated not reviewed unknown Array rs17078944 2914 10758 0.270868 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRRC2 Thr83Ala T83A not reviewed Insufficiently evaluated not reviewed unknown Array rs17286758 861 10758 0.0800335 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - LRRC2 Val32Ala V32A not reviewed Insufficiently evaluated not reviewed unknown Array rs28687398 923 10758 0.0857966 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRRC20 Arg147Gly R147G not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.446 - - 6 Y 1 N - - LRRC20 Arg91Gly R91G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC20 Arg97Gly R97G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC23 Asn65His N65H not reviewed Insufficiently evaluated not reviewed unknown Array rs2071072 3 10758 0.000278862 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.662 - - 0 - 1 N - - LRRC23 Arg124Leu R124L not reviewed Insufficiently evaluated not reviewed unknown Array rs2071073 508 10758 0.0472207 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - LRRC23 Val317Glu V317E not reviewed Insufficiently evaluated not reviewed unknown Array rs1057077 4288 10758 0.398587 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LRRC23 Glu276Gly E276G not reviewed Insufficiently evaluated not reviewed unknown Array rs710415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC24 Glu494Ala E494A not reviewed Insufficiently evaluated not reviewed unknown Array rs13277542 3092 9472 0.326436 9 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRRC24 Arg64His R64H not reviewed Insufficiently evaluated not reviewed unknown Array 182 8498 0.0214168 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC25 Pro294Ser P294S not reviewed Insufficiently evaluated not reviewed unknown Array rs6512265 7766 10758 0.721881 52 0 83 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - LRRC25 Pro234Thr P234T not reviewed Insufficiently evaluated not reviewed unknown Array rs34439430 221 10758 0.0205429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 3 - 1 - - LRRC26 Asp79Tyr D79Y not reviewed Insufficiently evaluated not reviewed unknown Array 41 7546 0.00543334 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - LRRC26 Gln27His Q27H not reviewed Insufficiently evaluated not reviewed unknown Array rs7019671 1842 6462 0.285051 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.933 - - -1 - 1 N - - LRRC26 Ser7Leu S7L not reviewed Insufficiently evaluated not reviewed unknown Array 280 5544 0.050505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRRC27 Arg195Cys R195C not reviewed Insufficiently evaluated not reviewed unknown Array rs2474329 1858 10758 0.172709 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LRRC28 Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array rs11857384 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - LRRC29 Gly117Ser G117S not reviewed Insufficiently evaluated not reviewed unknown Array rs34595673 1072 10752 0.0997024 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LRRC29 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - LRRC3 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735248 368 10692 0.0344183 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LRRC3 Pro184Leu P184L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - LRRC3 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LRRC31 Val327Met V327M not reviewed Insufficiently evaluated not reviewed unknown Array 7 9712 0.000720757 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 0 - 0 N - - LRRC31 Ala324Glu A324E not reviewed Insufficiently evaluated not reviewed unknown Array rs3732452 9 9742 0.000923834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC31 Thr211Met T211M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - LRRC31 Thr58Ile T58I not reviewed Insufficiently evaluated not reviewed unknown Array 49 9654 0.00507562 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - LRRC32 Ala407Thr A407T not reviewed Insufficiently evaluated not reviewed unknown Array 203 10752 0.0188802 4 0 4 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - LRRC32 Gly311Ala G311A not reviewed Insufficiently evaluated not reviewed unknown Array rs35130967 533 10754 0.049563 12 0 14 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - LRRC33 Thr25Pro T25P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 4 Y 0 N - - LRRC33 Ala529Pro A529P not reviewed Insufficiently evaluated not reviewed unknown Array rs62623661 1019 10758 0.0947202 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - LRRC33 Val630Met V630M not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - LRRC34 Ser337Thr S337T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - LRRC34 Leu241Ile L241I not reviewed Insufficiently evaluated not reviewed unknown Array rs10936600 2101 10756 0.195333 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 0 N - - LRRC36 Arg101Pro R101P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC36 Arg222Pro R222P not reviewed Insufficiently evaluated not reviewed unknown Array rs9922085 2185 10758 0.203105 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LRRC36 Gly388Ser G388S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC36 Gly509Ser G509S not reviewed Insufficiently evaluated not reviewed unknown Array rs8052655 2185 10758 0.203105 21 0 30 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 1 N - - LRRC37A Glu58Asp E58D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC37A Ala1255Thr A1255T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 1 - 0 N - - LRRC37A Trp1628Arg W1628R not reviewed Insufficiently evaluated not reviewed unknown Array 1 5506 0.00018162 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC37A Leu1653Met L1653M not reviewed Insufficiently evaluated not reviewed unknown Array rs273545 43 114 0.377193 13 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - LRRC37A2 Lys35Glu K35E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - LRRC37A2 Arg69Gln R69Q not reviewed Insufficiently evaluated not reviewed unknown Array 221 6738 0.0327991 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - 0 - 2 N - - LRRC37A2 Phe1141Leu F1141L not reviewed Insufficiently evaluated not reviewed unknown Array 4576 6120 0.747712 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 1 N - - LRRC37A2 Pro1378Leu P1378L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - LRRC37A2 Asn1385Lys N1385K not reviewed Insufficiently evaluated not reviewed unknown Array rs72628334 9656 10288 0.938569 5 0 8 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 1 N - - LRRC37A2 His1423Pro H1423P not reviewed Insufficiently evaluated not reviewed unknown Array rs273533 106 6548 0.0161881 11 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC37A2 Trp1628Arg W1628R not reviewed Insufficiently evaluated not reviewed unknown Array 7889 8954 0.881059 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRC37A3 Gly1590Ala G1590A not reviewed Insufficiently evaluated not reviewed unknown Array rs28532307 557 10758 0.0517754 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 1 N - - LRRC37A3 Lys1215Glu K1215E not reviewed Insufficiently evaluated not reviewed unknown Array rs9893710 1330 10748 0.123744 15 0 20 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 - 2 - - LRRC37A3 Val1130Ile V1130I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - -4 - 0 N - - LRRC37A3 Thr741Met T741M not reviewed Insufficiently evaluated not reviewed unknown Array 276 10194 0.0270747 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - LRRC37A3 Ser369Thr S369T not reviewed Insufficiently evaluated not reviewed unknown Array 3428 10098 0.339473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - -2 - 0 N - - LRRC37A3 His168Arg H168R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.304 - - 1 - 1 N - - LRRC37A3 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - LRRC37B Leu570Ile L570I not reviewed Insufficiently evaluated not reviewed unknown Array rs569874 3 110 0.0272727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC37B Ser625Pro S625P not reviewed Insufficiently evaluated not reviewed unknown Array 41 10308 0.00397749 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC37B Ala715Val A715V not reviewed Insufficiently evaluated not reviewed unknown Array 1271 10750 0.118233 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - LRRC37B Arg824Trp R824W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC37B Ile915Val I915V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRC37B Ile917Leu I917L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC39 Arg231Stop R231X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRRC40 Ile500Val I500V not reviewed Insufficiently evaluated not reviewed unknown Array 137 10740 0.0127561 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 1 - 3 - - LRRC41 Val609Ile V609I not reviewed Insufficiently evaluated not reviewed unknown Array rs11542623 1011 10758 0.0939766 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.832 - - -4 - 0 N - - LRRC43 Gln256Lys Q256K not reviewed Insufficiently evaluated not reviewed unknown Array rs11060094 1807 10602 0.17044 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LRRC43 Gln71Lys Q71K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC43 Tyr265His Y265H not reviewed Insufficiently evaluated not reviewed unknown Array 407 10606 0.0383745 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC43 Tyr80His Y80H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC43 Lys333Glu K333E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC43 Lys518Glu K518E not reviewed Insufficiently evaluated not reviewed unknown Array 96 9888 0.00970874 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - LRRC43 Pro353Leu P353L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC43 Pro538Leu P538L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9980 0.0002004 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - LRRC45 Ala365Val A365V not reviewed Insufficiently evaluated not reviewed unknown Array rs72861736 907 10666 0.0850366 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRRC46 Arg151Cys R151C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LRRC47 Val581Ile V581I not reviewed Insufficiently evaluated not reviewed unknown Array rs11547615 223 10758 0.0207288 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - LRRC47 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 8 8830 0.000906002 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - LRRC48 Arg191Trp R191W not reviewed Insufficiently evaluated not reviewed unknown Array rs4584886 3637 10408 0.349443 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRC49 Gln354Arg Q354R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - LRRC4B Val638Ala V638A not reviewed Insufficiently evaluated not reviewed unknown Array rs61751957 2173 9186 0.236556 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LRRC4B Gly6Ser G6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - LRRC50 Pro106Thr P106T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 4 Y 2 N - - LRRC50 Val210Met V210M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - LRRC50 His229Tyr H229Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35496754 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -1 - 0 N - - LRRC50 Lys393Arg K393R not reviewed Insufficiently evaluated not reviewed unknown Array rs17856705 4066 10756 0.378022 33 0 35 0 0 - - - - - - - - - - - - - - - - 0.683 - - -3 - 0 N - - LRRC50 Glu432Asp E432D not reviewed Insufficiently evaluated not reviewed unknown Array rs9972733 811 10758 0.0753858 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - LRRC50 Pro502Leu P502L not reviewed Insufficiently evaluated not reviewed unknown Array rs11644164 3234 10738 0.301173 30 0 31 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - LRRC50 Thr590Met T590M not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - LRRC50 Leu633Ser L633S not reviewed Insufficiently evaluated not reviewed unknown Array rs2288020 2941 10758 0.273378 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRRC50 Leu659Val L659V not reviewed Insufficiently evaluated not reviewed unknown Array rs2288021 1686 10756 0.15675 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LRRC50 Leu659Pro L659P not reviewed Insufficiently evaluated not reviewed unknown Array rs2288022 2904 10756 0.269989 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRC50 Ser675Thr S675T not reviewed Insufficiently evaluated not reviewed unknown Array rs2288023 2952 10758 0.2744 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LRRC52 Leu106Phe L106F not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC52 Asp209Glu D209E not reviewed Insufficiently evaluated not reviewed unknown Array rs17407838 1056 10758 0.0981595 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LRRC56 Glu254Asp E254D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - -2 - 0 N - - LRRC56 Thr285Met T285M not reviewed Insufficiently evaluated not reviewed unknown Array 44 10746 0.00409455 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - LRRC56 Arg300His R300H not reviewed Insufficiently evaluated not reviewed unknown Array rs4963198 6124 10742 0.570099 42 0 59 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - LRRC56 Arg467Gln R467Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12793222 2445 10756 0.227315 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - LRRC56 Arg507Gly R507G not reviewed Insufficiently evaluated not reviewed unknown Array rs10902170 8441 10740 0.78594 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRRC56 Asp523His D523H not reviewed Insufficiently evaluated not reviewed unknown Array rs10902171 8411 10748 0.782564 28 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRRC6 Ile466Thr I466T not reviewed Insufficiently evaluated not reviewed unknown Array rs9297853 1792 10758 0.166574 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 1 N - - LRRC6 Pro288His P288H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - LRRC6 Thr232Ile T232I not reviewed Insufficiently evaluated not reviewed unknown Array rs2293979 6070 10758 0.564231 44 0 66 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRRC61 Arg39Cys R39C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 8 Y 0 N - - LRRC61 Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array rs3735169 2720 10758 0.252835 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRC66 Pro465Ser P465S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - LRRC66 Gly342Ala G342A not reviewed Insufficiently evaluated not reviewed unknown Array rs17081784 298 9712 0.0306837 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - LRRC66 Arg138Cys R138C not reviewed Insufficiently evaluated not reviewed unknown Array rs58322494 58 9990 0.0058058 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.543 - - 8 Y 1 N - - LRRC66 Arg73Gly R73G not reviewed Insufficiently evaluated not reviewed unknown Array 14 9570 0.0014629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LRRC69 Thr64Ile T64I not reviewed Insufficiently evaluated not reviewed unknown Array rs11785003 1609 3228 0.498451 35 0 45 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - LRRC69 Asn116Lys N116K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - LRRC7 Asn293Ser N293S not reviewed Insufficiently evaluated not reviewed unknown Array rs72676879 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.502 - - 0 - 1 N - - LRRC7 Ile318Val I318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 1 - 1 - - LRRC70 Leu506Pro L506P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC8A Thr282Asn T282N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - LRRC8A Lys673Gln K673Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.397 - - -2 - 1 N - - LRRC8A Lys673Thr K673T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 3 - 2 N - - LRRC8B Asp288Asn D288N not reviewed Insufficiently evaluated not reviewed unknown Array rs17131746 273 10758 0.0253765 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - LRRC8B Arg469His R469H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - LRRC8C Asp205Gly D205G not reviewed Insufficiently evaluated not reviewed unknown Array rs474536 10578 10758 0.983268 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LRRC8C Asn468Ser N468S not reviewed Insufficiently evaluated not reviewed unknown Array rs12032393 1183 10758 0.109965 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - LRRC8D His543Gln H543Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.464 - - -1 - 1 N - - LRRC8E Glu181Gly E181G not reviewed Insufficiently evaluated not reviewed unknown Array rs2042919 2618 10752 0.24349 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRRC8E Met190Thr M190T not reviewed Insufficiently evaluated not reviewed unknown Array rs2115108 3453 10724 0.321988 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRRC8E Arg630Gln R630Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.543 - - 0 - 1 N - - LRRCC1 Gln34His Q34H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRCC1 Arg10Thr R10T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRCC1 His69Gln H69Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16913589 395 9564 0.0413007 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - LRRCC1 Cys90Tyr C90Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62525422 765 9544 0.0801551 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - LRRCC1 Arg179Gln R179Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 9512 0.00378469 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - LRRCC1 Arg86Gln R86Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRCC1 Thr117Ala T117A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRCC1 Thr210Ala T210A not reviewed Insufficiently evaluated not reviewed unknown Array rs3736038 1717 9532 0.18013 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LRRCC1 Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRCC1 Glu283Lys E283K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - LRRCC1 Met438Val M438V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRCC1 Met531Val M531V not reviewed Insufficiently evaluated not reviewed unknown Array 77 9580 0.00803758 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - LRRCC1 Lys520Asn K520N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRCC1 Lys613Asn K613N not reviewed Insufficiently evaluated not reviewed unknown Array rs6985225 346 9550 0.0362304 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - LRRCC1 Arg812Trp R812W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRCC1 Arg905Trp R905W not reviewed Insufficiently evaluated not reviewed unknown Array 10 9440 0.00105932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - LRRFIP1 Gln219Arg Q219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP1 Gln251Arg Q251R not reviewed Insufficiently evaluated not reviewed unknown Array rs3213869 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP1 Gln275Arg Q275R not reviewed Insufficiently evaluated not reviewed unknown Array 351 10758 0.0326269 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - LRRFIP1 Gln465Arg Q465R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP1 Met338Val M338V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP1 Met370Val M370V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744755 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRFIP1 Met394Val M394V not reviewed Insufficiently evaluated not reviewed unknown Array 462 10758 0.0429448 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.251 - - 0 - 1 N - - LRRFIP1 Asn362Ser N362S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP1 Asn394Ser N394S not reviewed Insufficiently evaluated not reviewed unknown Array rs2001301 21 128 0.164062 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRFIP1 Asn418Ser N418S not reviewed Insufficiently evaluated not reviewed unknown Array 1299 10758 0.120747 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - LRRFIP1 Lys577Glu K577E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - LRRFIP1 Lys609Glu K609E not reviewed Insufficiently evaluated not reviewed unknown Array rs3739041 10 106 0.0943396 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRFIP1 Lys633Glu K633E not reviewed Insufficiently evaluated not reviewed unknown Array 1090 10758 0.10132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - LRRFIP1 Pro589Leu P589L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRFIP1 Pro621Leu P621L not reviewed Insufficiently evaluated not reviewed unknown Array rs3739040 16 124 0.129032 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRFIP1 Pro645Leu P645L not reviewed Insufficiently evaluated not reviewed unknown Array 1098 10756 0.102083 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.066 - - 7 Y 0 N - - LRRFIP1 Arg634Thr R634T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRFIP1 Arg666Thr R666T not reviewed Insufficiently evaluated not reviewed unknown Array rs11680012 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRFIP1 Arg690Thr R690T not reviewed Insufficiently evaluated not reviewed unknown Array 350 10758 0.0325339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRFIP1 His727Asp H727D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRFIP1 His759Asp H759D not reviewed Insufficiently evaluated not reviewed unknown Array rs3739038 50 128 0.390625 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRRFIP1 His783Asp H783D not reviewed Insufficiently evaluated not reviewed unknown Array rs3739038 2958 10758 0.274958 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - LRRFIP2 Cys277Gly C277G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRFIP2 Cys301Gly C301G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRFIP2 Cys598Gly C598G not reviewed Insufficiently evaluated not reviewed unknown Array rs58970254 132 10758 0.0122699 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 1 N - - LRRFIP2 Tyr184Cys Y184C not reviewed Insufficiently evaluated not reviewed unknown Array rs36068826 233 10758 0.0216583 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - LRRIQ1 Ile29Asn I29N not reviewed Insufficiently evaluated not reviewed unknown Array rs7312075 718 10758 0.066741 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRIQ1 Cys83Tyr C83Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3765044 2159 10608 0.203526 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRRIQ1 Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRIQ1 Gly829Val G829V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRRIQ1 Ala912Thr A912T not reviewed Insufficiently evaluated not reviewed unknown Array rs17012533 2237 10758 0.207938 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRRIQ3 Ala558Val A558V not reviewed Insufficiently evaluated not reviewed unknown Array 308 9400 0.032766 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - LRRIQ3 Glu434Lys E434K not reviewed Insufficiently evaluated not reviewed unknown Array rs17094777 315 9556 0.0329636 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - LRRIQ3 His389Asp H389D not reviewed Insufficiently evaluated not reviewed unknown Array 49 9578 0.00511589 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - LRRIQ3 Gly263Glu G263E not reviewed Insufficiently evaluated not reviewed unknown Array rs74093612 110 9368 0.0117421 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - LRRIQ3 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array rs1340472 7726 9386 0.823141 25 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRRIQ3 Met129Ile M129I not reviewed Insufficiently evaluated not reviewed unknown Array rs17094900 352 10756 0.0327259 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.819 - - -1 - 1 N - - LRRIQ4 Gln35Glu Q35E not reviewed Insufficiently evaluated not reviewed unknown Array rs61738871 860 9768 0.0880426 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.256 - - -2 - 0 N - - LRRIQ4 Ser94Asn S94N not reviewed Insufficiently evaluated not reviewed unknown Array rs61754874 830 9966 0.0832832 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - LRRK1 Lys203Glu K203E not reviewed Insufficiently evaluated not reviewed unknown Array rs35985016 9 10238 0.000879077 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - LRRK1 Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10000 0.0032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRK1 Asp1105Asn D1105N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRK1 Ala1350Thr A1350T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10356 0.000965623 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRK1 Pro1796His P1796H not reviewed Insufficiently evaluated not reviewed unknown Array rs34876840 56 10094 0.00554785 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRK1 Gly1938Asp G1938D not reviewed Insufficiently evaluated not reviewed unknown Array rs2924835 2419 10318 0.234445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LRRK2 Arg50His R50H not reviewed Insufficiently evaluated not reviewed unknown Array rs2256408 10373 10758 0.964213 55 0 105 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - LRRK2 Ser231Pro S231P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - LRRK2 Asn551Lys N551K not reviewed Insufficiently evaluated not reviewed unknown Array rs7308720 1028 10754 0.0955923 13 0 14 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - LRRK2 Arg1398His R1398H not reviewed Insufficiently evaluated not reviewed unknown Array rs7133914 1002 10758 0.09314 14 0 14 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - LRRK2 Ser1647Thr S1647T not reviewed Insufficiently evaluated not reviewed unknown Array rs11564148 2767 10742 0.257587 16 0 16 2 2 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 7 - - LRRK2 Met2397Thr M2397T not reviewed Insufficiently evaluated not reviewed unknown Array rs3761863 6606 10756 0.614169 45 0 56 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 3 - - LRRN1 Leu395Val L395V not reviewed Insufficiently evaluated not reviewed unknown Array rs35362954 334 10758 0.0310467 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - LRRN1 Thr702Pro T702P not reviewed Insufficiently evaluated not reviewed unknown Array rs34611357 238 10758 0.0221231 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 1 - 3 - - LRRN2 Pro692Ser P692S not reviewed Insufficiently evaluated not reviewed unknown Array rs11588857 1796 10758 0.166946 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.713 - - 3 - 0 N - - LRRN2 Val639Ile V639I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRN2 Leu518Val L518V not reviewed Insufficiently evaluated not reviewed unknown Array rs3747631 1800 10758 0.167317 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRN2 Ser511Ile S511I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 0 N - - LRRN2 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array rs36012907 757 10750 0.0704186 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - LRRN2 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array rs3789044 1780 10718 0.166076 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRN3 Asp24Gly D24G not reviewed Insufficiently evaluated not reviewed unknown Array rs9942557 493 10758 0.0458264 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 4 - - LRRN4 Arg708Leu R708L not reviewed Insufficiently evaluated not reviewed unknown Array 188 10746 0.0174949 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - LRRN4 Ala672Thr A672T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10588 0.00434454 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - LRRN4 Ser451Gly S451G not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - LRRN4 Leu148Phe L148F not reviewed Insufficiently evaluated not reviewed unknown Array rs6117050 616 4918 0.125254 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - LRRN4 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array rs1884643 1072 5606 0.191224 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRRN4 Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array rs6107751 638 6006 0.106227 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.445 - - 7 Y 0 N - - LRRTM1 Gly338Ser G338S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734034 160 10758 0.0148727 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRTM1 Asn330Ser N330S not reviewed Insufficiently evaluated not reviewed unknown Array rs6733871 2932 10758 0.272541 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRTM1 Ile295Val I295V not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRTM3 Ile530Arg I530R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - LRSAM1 Ser183Leu S183L not reviewed Insufficiently evaluated not reviewed unknown Array 407 10758 0.0378323 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRSAM1 Asn318Asp N318D not reviewed Insufficiently evaluated not reviewed unknown Array rs1539567 7971 10754 0.741213 41 0 63 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LRSAM1 Glu320Lys E320K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - LRTM1 Gly252Ser G252S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRTM2 Asp161Asn D161N not reviewed Insufficiently evaluated not reviewed unknown Array rs41276696 308 10758 0.0286299 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - -1 - 3 - 1 - - LRWD1 Lys224Arg K224R not reviewed Insufficiently evaluated not reviewed unknown Array rs35310665 513 9996 0.0513205 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 0 N - - LRWD1 Cys316Arg C316R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - LSDP5 Arg306Trp R306W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LSDP5 Arg275Cys R275C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LSDP5 Cys255Arg C255R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LSDP5 Ala87Asp A87D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LSDP5 Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - LSG1 Lys267Glu K267E not reviewed Insufficiently evaluated not reviewed unknown Array rs1675953 6299 10758 0.585518 41 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LSG1 Leu92Pro L92P not reviewed Insufficiently evaluated not reviewed unknown Array rs34423045 616 10758 0.0572597 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - LSM12 Val173Leu V173L not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - LSM14A Asn249Ser N249S not reviewed Insufficiently evaluated not reviewed unknown Array rs73929373 1049 10758 0.0975088 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LSM14A Arg448Gln R448Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2274896 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.816 - - 0 - 1 N - - LSMD1 Leu13Pro L13P not reviewed Insufficiently evaluated not reviewed unknown Array rs8522 2811 10758 0.261294 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LSP1 Arg58Trp R58W not reviewed Insufficiently evaluated not reviewed unknown Array rs57352451 18 10754 0.0016738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 7 Y 0 N - - LSP1 Ala100Thr A100T not reviewed Insufficiently evaluated not reviewed unknown Array rs621679 3437 10512 0.32696 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LSP1 Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LSP1 Gln108Leu Q108L not reviewed Insufficiently evaluated not reviewed unknown Array rs11545725 1518 10246 0.148155 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.11 - - 5 Y 0 N - - LSP1 Gln46Leu Q46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LSR Ser295Asn S295N not reviewed Insufficiently evaluated not reviewed unknown Array rs34259399 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSR Ser344Asn S344N not reviewed Insufficiently evaluated not reviewed unknown Array rs34259399 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSR Ser363Asn S363N not reviewed Insufficiently evaluated not reviewed unknown Array rs34259399 1211 10758 0.112567 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LSR Gly450Arg G450R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LSR Gly499Arg G499R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - LSR Gly518Arg G518R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LSR Pro481His P481H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LSR Pro530His P530H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - LSR Pro549His P549H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 5 Y 2 N - - LSS Leu562Val L562V not reviewed Insufficiently evaluated not reviewed unknown Array rs2254524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSS Leu631Val L631V not reviewed Insufficiently evaluated not reviewed unknown Array rs2254524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSS Leu642Val L642V not reviewed Insufficiently evaluated not reviewed unknown Array rs2254524 8019 10758 0.745399 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LSS Arg542Gln R542Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSS Arg611Gln R611Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSS Arg622Gln R622Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735802 354 10758 0.0329057 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - LSS Arg534Trp R534W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LSS Arg603Trp R603W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LSS Arg614Trp R614W not reviewed Insufficiently evaluated not reviewed unknown Array rs35785446 577 10758 0.0536345 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 1 N - - LSS His230Arg H230R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LSS His299Arg H299R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LSS His310Arg H310R not reviewed Insufficiently evaluated not reviewed unknown Array rs34115287 1655 10756 0.153868 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LSS Thr207Met T207M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - LSS Thr276Met T276M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LSS Thr287Met T287M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 1 - - LSS Ala171Val A171V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - LSS Ala240Val A240V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - LSS Ala251Val A251V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735801 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - LSS Ile109Leu I109L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LSS Ile178Leu I178L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - LSS Ile189Leu I189L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.898 - - -2 - 2 N - - LSS Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSS Arg175Gln R175Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2839158 1700 10758 0.158022 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.934 - - 0 - 1 N - - LSS Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LST-3TM12 Pro107Leu P107L not reviewed Insufficiently evaluated not reviewed unknown Array rs12824121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LST-3TM12 Met129Ile M129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LST-3TM12 Val167Ala V167A not reviewed Insufficiently evaluated not reviewed unknown Array rs1546308 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LST-3TM12 Phe248Tyr F248Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11045676 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LST-3TM12 Tyr311Cys Y311C not reviewed Insufficiently evaluated not reviewed unknown Array rs11045681 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LST-3TM12 Ala338Thr A338T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LST-3TM12 Pro437Thr P437T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LST-3TM12 Phe454Leu F454L not reviewed Insufficiently evaluated not reviewed unknown Array rs11045699 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTA Cys13Arg C13R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229094 2056 7518 0.273477 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - LTA Gly34Arg G34R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 3 - 3 - - LTA His51Pro H51P not reviewed Insufficiently evaluated not reviewed unknown Array rs2229092 361 7524 0.0479798 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.01 - - 5 Y 0 N - - LTA Thr60Asn T60N not reviewed Insufficiently evaluated not reviewed unknown Array rs1041981 3038 7524 0.403775 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - LTA4H Glu481Asp E481D not reviewed Insufficiently evaluated not reviewed unknown Array rs45630739 260 10758 0.0241681 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - LTA4H Tyr74His Y74H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 0 N - - LTB Gly15Glu G15E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - LTB4R2 Ala77Val A77V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - 2 - 0 N - - LTB4R2 Asp196Gly D196G not reviewed Insufficiently evaluated not reviewed unknown Array 379 10576 0.0358359 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - LTB4R2 Glu381Gln E381Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10654 0.00600713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LTBP1 Glu246Lys E246K not reviewed Insufficiently evaluated not reviewed unknown Array rs35340726 284 10758 0.026399 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTBP1 His509Asn H509N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTBP1 His835Asn H835N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTBP1 Gly652Ala G652A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP1 Gly978Ala G978A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP1 Ser1267Phe S1267F not reviewed Insufficiently evaluated not reviewed unknown Array rs61751742 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTBP1 Ser941Phe S941F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTBP1 Val1053Ala V1053A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Val1379Ala V1379A not reviewed Insufficiently evaluated not reviewed unknown Array rs4422143 10757 10758 0.999907 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LTBP2 Gly1088Ser G1088S not reviewed Insufficiently evaluated not reviewed unknown Array rs61505039 34 10758 0.00316044 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP2 Pro319Gln P319Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2304707 947 10758 0.0880275 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LTBP2 Glu74Lys E74K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTBP3 Glu788Lys E788K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - LTBP3 Ala438Val A438V not reviewed Insufficiently evaluated not reviewed unknown Array rs11545200 589 10758 0.05475 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.294 - - 2 - 0 N - - LTBP4 Val127Ile V127I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LTBP4 Val157Ile V157I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LTBP4 Val194Ile V194I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303729 5094 9798 0.519902 35 0 53 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LTBP4 Arg406Cys R406C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTBP4 Arg436Cys R436C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTBP4 Arg473Cys R473C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTBP4 Arg568Gly R568G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LTBP4 Arg598Gly R598G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LTBP4 Arg635Gly R635G not reviewed Insufficiently evaluated not reviewed unknown Array rs33937741 297 10224 0.0290493 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LTBP4 Pro612Ala P612A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - LTBP4 Pro642Ala P642A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - LTBP4 Pro679Ala P679A not reviewed Insufficiently evaluated not reviewed unknown Array rs34299942 230 9972 0.0230646 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - LTBP4 Thr720Ala T720A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP4 Thr750Ala T750A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP4 Thr787Ala T787A not reviewed Insufficiently evaluated not reviewed unknown Array rs1131620 4860 10364 0.468931 33 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LTBP4 Thr753Ala T753A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP4 Thr783Ala T783A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP4 Thr820Ala T820A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051303 4809 10316 0.466169 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LTBP4 Arg1074Cys R1074C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTBP4 Arg1104Cys R1104C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTBP4 Arg1141Cys R1141C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTBP4 Thr1229Ile T1229I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LTBP4 Thr1259Ile T1259I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LTBP4 Thr1296Ile T1296I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LTBP4 Ile1433Phe I1433F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP4 Ile1463Phe I1463F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP4 Ile1500Phe I1500F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBR Ser146Phe S146F not reviewed Insufficiently evaluated not reviewed unknown Array rs41393248 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.684 - - 5 Y 2 - 1 - - LTBR Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array rs35681405 324 10758 0.0301171 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.048 - - -4 - 1 - 3 - - LTF Glu579Asp E579D not reviewed Insufficiently evaluated not reviewed unknown Array rs2073495 2767 10758 0.257204 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LTF Glu240Lys E240K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTF Ala193Val A193V not reviewed Insufficiently evaluated not reviewed unknown Array rs60938611 611 10758 0.0567949 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LTF Lys47Arg K47R not reviewed Insufficiently evaluated not reviewed unknown Array rs1126478 5389 10758 0.50093 42 0 67 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - LTF Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array rs1126477 4285 10758 0.398308 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LTK Glu633Lys E633K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTK Glu702Lys E702K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - LTK Glu763Lys E763K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTK Asp474Asn D474N not reviewed Insufficiently evaluated not reviewed unknown Array rs35932273 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 9 - - LTK Asp535Asn D535N not reviewed Insufficiently evaluated not reviewed unknown Array 226 10758 0.0210076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 9 - - LTK Pro227Leu P227L not reviewed Insufficiently evaluated not reviewed unknown Array 300 8186 0.0366479 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LTK Arg42Gln R42Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2305030 1078 10738 0.100391 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LTK Phe28Leu F28L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LUC7L Arg277Gln R277Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LUC7L2 Arg282Cys R282C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LUC7L2 Asp361Glu D361E not reviewed Insufficiently evaluated not reviewed unknown Array rs3757435 3 9858 0.000304321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LUZP1 Ser1034Asn S1034N not reviewed Insufficiently evaluated not reviewed unknown Array rs12066671 779 10758 0.0724112 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - LUZP1 Glu1025Ala E1025A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - LUZP1 Asp868Asn D868N not reviewed Insufficiently evaluated not reviewed unknown Array rs10799790 8888 10758 0.826176 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LUZP1 Thr491Ile T491I not reviewed Insufficiently evaluated not reviewed unknown Array rs35917050 367 10758 0.0341141 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - LUZP1 Gln461Lys Q461K not reviewed Insufficiently evaluated not reviewed unknown Array rs3765407 8101 10758 0.753021 51 0 78 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 0 N - - LUZP1 Gly458Ser G458S not reviewed Insufficiently evaluated not reviewed unknown Array rs477830 8263 10758 0.76808 51 0 82 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - LUZP1 Ser317Ala S317A not reviewed Insufficiently evaluated not reviewed unknown Array rs12091554 559 10758 0.0519613 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LUZP2 Glu308Gln E308Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7930185 3580 10758 0.332776 23 0 35 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - LUZP4 Pro14Ser P14S not reviewed Insufficiently evaluated not reviewed unknown Array rs10482480 121 8761 0.0138112 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - LVRN Leu54Ser L54S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LVRN Ile347Met I347M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LVRN Thr348Arg T348R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LVRN Leu689Phe L689F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LVRN Ile766Val I766V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LVRN Val936Ile V936I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LXN Thr134Met T134M not reviewed Insufficiently evaluated not reviewed unknown Array rs59718588 521 10756 0.0484381 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.045 - - 2 - 0 N - - LXN His53Arg H53R not reviewed Insufficiently evaluated not reviewed unknown Array rs8455 6378 10696 0.596298 42 0 59 0 0 - - - - - - - - - - - - - - - - 0.044 - - 1 - 0 N - - LY6D Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array rs2572925 3799 9596 0.395894 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LY6G5B Asp102Asn D102N not reviewed Insufficiently evaluated not reviewed unknown Array rs805267 745 7520 0.0990691 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.866 - - -1 - 1 N - - LY6G5B Arg176Cys R176C not reviewed Insufficiently evaluated not reviewed unknown Array rs9267532 618 7524 0.0821372 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 1 N - - LY6G5C Phe53Leu F53L not reviewed Insufficiently evaluated not reviewed unknown Array rs11575852 103 7524 0.0136895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LY6G6D Leu9Val L9V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LY6G6F Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array rs805295 1001 10758 0.093047 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - LY6G6F Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array rs9267547 1598 10758 0.148541 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.902 - - 1 - 1 N - - LY6G6F Arg167Lys R167K not reviewed Insufficiently evaluated not reviewed unknown Array rs2242653 961 7522 0.127759 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - LY6G6F Gly266Asp G266D not reviewed Insufficiently evaluated not reviewed unknown Array rs61740977 52 7518 0.00691673 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - LY6H Arg8Pro R8P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - LY6K Asn20His N20H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - LY75 Tyr1391His Y1391H not reviewed Insufficiently evaluated not reviewed unknown Array rs2059696 2441 10758 0.226901 19 0 27 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 1 N - - LY75 Lys1347Arg K1347R not reviewed Insufficiently evaluated not reviewed unknown Array rs17827158 1015 10758 0.0943484 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.895 - - -3 - 1 N - - LY75 Lys1321Asn K1321N not reviewed Insufficiently evaluated not reviewed unknown Array rs12692566 9129 10750 0.849209 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LY75 Tyr1033His Y1033H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - LY75 Asp884Ala D884A not reviewed Insufficiently evaluated not reviewed unknown Array rs3815875 330 10758 0.0306748 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - LY75 Asp807Glu D807E not reviewed Insufficiently evaluated not reviewed unknown Array rs3951216 4541 10758 0.422104 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LY75 Asp692Asn D692N not reviewed Insufficiently evaluated not reviewed unknown Array rs1397706 637 10758 0.0592117 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.519 - - -1 - 0 N - - LY75 Val666Ala V666A not reviewed Insufficiently evaluated not reviewed unknown Array rs34020639 132 10758 0.0122699 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - LY75 Asp504Asn D504N not reviewed Insufficiently evaluated not reviewed unknown Array 49 10754 0.00455644 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - LY75 Arg360Cys R360C not reviewed Insufficiently evaluated not reviewed unknown Array rs35675007 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - LY75 Glu268Asp E268D not reviewed Insufficiently evaluated not reviewed unknown Array rs2271381 2100 10758 0.195204 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - LY75 Trp20Arg W20R not reviewed Insufficiently evaluated not reviewed unknown Array rs35284483 136 10242 0.0132787 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LY9 Val468Ile V468I not reviewed Insufficiently evaluated not reviewed unknown Array rs74124285 476 10758 0.0442461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LY9 Met602Val M602V not reviewed Insufficiently evaluated not reviewed unknown Array rs509749 5746 10758 0.534114 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LY96 Arg56Gly R56G not reviewed Insufficiently evaluated not reviewed unknown Array rs6472812 10421 10722 0.971927 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LYAR His265Arg H265R not reviewed Insufficiently evaluated not reviewed unknown Array rs7376390 10753 10758 0.999535 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LYAR Gly243Asp G243D not reviewed Insufficiently evaluated not reviewed unknown Array rs41264703 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 4 Y 0 N - - LYAR Val178Met V178M not reviewed Insufficiently evaluated not reviewed unknown Array rs73087759 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYAR Asp151Tyr D151Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2272739 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - LYNX1 Thr29Met T29M not reviewed Insufficiently evaluated not reviewed unknown Array rs36031063 153 10756 0.0142246 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.193 - - 2 - 0 N - - LYNX1 Thr63Met T63M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LYPD1 Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array 38 9942 0.00382217 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LYPD1 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LYPD2 Ala7Val A7V not reviewed Insufficiently evaluated not reviewed unknown Array rs11775636 2040 10748 0.189803 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LYPD2 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11778314 1853 10750 0.172372 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.959 - - 0 - 1 N - - LYPD3 Thr247Lys T247K not reviewed Insufficiently evaluated not reviewed unknown Array rs28477226 333 10758 0.0309537 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - LYPD5 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array rs349053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYPD5 Asn167Ser N167S not reviewed Insufficiently evaluated not reviewed unknown Array rs349053 5545 10758 0.51543 32 0 45 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - LYPD5 Ala47Pro A47P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LYPD5 Ala90Pro A90P not reviewed Insufficiently evaluated not reviewed unknown Array rs11547806 6354 10750 0.59107 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LYPLA1 Pro153Ser P153S not reviewed Insufficiently evaluated not reviewed unknown Array rs11549448 354 10758 0.0329057 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 3 - - LYPLAL1 Ile131Met I131M not reviewed Insufficiently evaluated not reviewed unknown Array rs940570 10358 10756 0.962997 44 0 87 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LYPLAL1 Leu197Val L197V not reviewed Insufficiently evaluated not reviewed unknown Array rs34201999 200 10756 0.0185943 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - LYRM2 Lys46Glu K46E not reviewed Insufficiently evaluated not reviewed unknown Array rs34012596 1897 10756 0.176367 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - LYRM2 Thr10Lys T10K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - LYRM4 Ser11Ala S11A not reviewed Insufficiently evaluated not reviewed unknown Array rs2224391 4423 10594 0.4175 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.247 - - -1 - 0 N - - LYSMD2 Ile107Val I107V not reviewed Insufficiently evaluated not reviewed unknown Array rs3751593 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 3 - 2 - - LYSMD2 Ile16Val I16V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - LYSMD3 Met194Leu M194L not reviewed Insufficiently evaluated not reviewed unknown Array 169 9746 0.0173404 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LYSMD3 Ser150Tyr S150Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62375061 146 9590 0.0152242 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 1 N - - LYSMD4 Thr196Ser T196S not reviewed Insufficiently evaluated not reviewed unknown Array rs72760587 1085 10758 0.100855 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LYSMD4 Ala181Gly A181G not reviewed Insufficiently evaluated not reviewed unknown Array rs2061007 4879 10758 0.453523 33 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LYSMD4 Ala162Val A162V not reviewed Insufficiently evaluated not reviewed unknown Array rs8041078 1444 10758 0.134226 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LYSMD4 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array rs8041089 1316 10758 0.122328 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LYSMD4 Lys118Met K118M not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LYST Gly2804Asp G2804D not reviewed Insufficiently evaluated not reviewed unknown Array rs35333195 442 10758 0.0410857 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LYST Phe2598Tyr F2598Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34642241 272 10758 0.0252835 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y -4 - 4 N - - LYST Gln1949His Q1949H not reviewed Insufficiently evaluated not reviewed unknown Array rs6665568 697 10758 0.064789 12 0 13 0 0 1 Y - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - LYST Asp1330Ala D1330A not reviewed Insufficiently evaluated not reviewed unknown Array 434 10748 0.0403796 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - LYST Ser1017Asn S1017N not reviewed Insufficiently evaluated not reviewed unknown Array rs10465613 476 10758 0.0442461 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LYST Leu192Val L192V not reviewed Insufficiently evaluated not reviewed unknown Array rs7524261 489 10758 0.0454545 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LYST Arg159Lys R159K benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 0 Y - - 0 Y 0 Y - - - - Y - - - 0.99 Y Y -3 - 4 N 0 0 Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause Chediak-Higashi syndrome (a severe genetic disorder causing albinism, neuropathy, and life-threatening susceptibility to bacterial infections), but this disease is rare and there are many other genomes with rare missense polymorphisms. LYVE1 Thr214Ile T214I not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 2 - - LYVE1 Tyr169His Y169H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - LYVE1 Phe162Cys F162C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - LYVE1 Leu10His L10H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - LYVE1 Leu9Stop L9X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LYVE1 Leu9Met L9M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.31 - - -3 - 1 N - - LYZ Leu4Val L4V not reviewed Insufficiently evaluated not reviewed unknown Array rs58131341 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 2 - 10 - - LYZ Thr88Asn T88N not reviewed Insufficiently evaluated not reviewed unknown Array rs1800973 552 10758 0.0513107 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.923 Y - 1 - 3 - 6 - - LYZL1 Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array rs17851935 6550 10754 0.609076 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - LYZL1 Gln108Pro Q108P not reviewed Insufficiently evaluated not reviewed unknown Array rs3818551 2397 10758 0.222811 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LYZL1 Gly190Asp G190D not reviewed Insufficiently evaluated not reviewed unknown Array rs41289053 659 10758 0.0612567 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LYZL2 Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array rs2532753 106 10754 0.0098568 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LYZL6 Phe139Ser F139S not reviewed Insufficiently evaluated not reviewed unknown Array rs9754 1706 10758 0.15858 20 0 19 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LZTFL1 Ala269Ser A269S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LZTFL1 Asp246Asn D246N not reviewed Insufficiently evaluated not reviewed unknown Array rs1129183 714 10758 0.0663692 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.243 - - -1 - 0 N - - LZTFL1 Glu186Gly E186G not reviewed Insufficiently evaluated not reviewed unknown Array rs72876525 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - LZTS1 Leu475Val L475V not reviewed Insufficiently evaluated not reviewed unknown Array rs723874 660 10754 0.0613725 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - LZTS2 Pro317Ser P317S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - LZTS2 Ser320Leu S320L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.26 - - 6 Y 1 N - - LZTS2 Arg502Gly R502G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LZTS2 Glu503Val E503V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 5 Y 0 N - - LZTS2 Arg538Trp R538W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - M6PR Trp25Arg W25R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - M6PRBP1 Gln284Glu Q284E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - M6PRBP1 Val275Ala V275A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - M6PRBP1 Ile56Val I56V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAB21L2 Cys215Arg C215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - MACC1 Arg804Thr R804T not reviewed Insufficiently evaluated not reviewed unknown Array rs3735615 5644 10758 0.524633 44 0 65 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 1 N - - MACC1 His798Asp H798D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MACC1 Ser515Leu S515L not reviewed Insufficiently evaluated not reviewed unknown Array rs975263 2781 10758 0.258505 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.09 - - 6 Y 0 N - - MACC1 Ile37Ser I37S not reviewed Insufficiently evaluated not reviewed unknown Array 56 10752 0.00520833 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.773 - - 5 Y 1 N - - MACC1 Leu31Val L31V not reviewed Insufficiently evaluated not reviewed unknown Array rs4721888 643 10752 0.0598028 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MACF1 Arg27Ser R27S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MACF1 Lys1248Ile K1248I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MACF1 Leu1354Met L1354M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MACF1 Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array rs16826069 1756 10758 0.163227 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MACF1 Ala916Gly A916G not reviewed Insufficiently evaluated not reviewed unknown Array rs10047195 90 10758 0.00836587 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MACF1 Thr1120Met T1120M not reviewed Insufficiently evaluated not reviewed unknown Array rs74066749 359 10758 0.0333705 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MACF1 Lys1625Asn K1625N not reviewed Insufficiently evaluated not reviewed unknown Array rs41270807 1684 10708 0.157266 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MACF1 Lys1781Asn K1781N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10748 0.000558243 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Lys1948Glu K1948E not reviewed Insufficiently evaluated not reviewed unknown Array rs41270809 305 10758 0.028351 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Asp1612Val D1612V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MACF1 Asp2114Val D2114V not reviewed Insufficiently evaluated not reviewed unknown Array rs59084124 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MACF1 Met2290Val M2290V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Met2792Val M2792V not reviewed Insufficiently evaluated not reviewed unknown Array rs2296172 1727 10758 0.160532 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MACF1 Ala2465Ser A2465S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MACF1 Ala2967Ser A2967S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MACF1 Arg2523Gln R2523Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Arg3025Gln R3025Q not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 His3429Tyr H3429Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MACF1 His3931Tyr H3931Y not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MACF1 Ala4350Thr A4350T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Ala4852Thr A4852T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Ser4670Thr S4670T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MACF1 Ser5172Thr S5172T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MACF1 Arg5269Gln R5269Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Arg5777Gln R5777Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACROD1 Ser238Arg S238R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 1 - - MACROD1 Gly185Ser G185S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10630 0.00291627 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - MACROD1 Ala68Val A68V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - MACROD2 Thr58Ile T58I not reviewed Insufficiently evaluated not reviewed unknown Array rs2990505 2248 9400 0.239149 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.074 - - 3 - 0 N - - MACROD2 Thr100Met T100M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MACROD2 Thr335Met T335M not reviewed Insufficiently evaluated not reviewed unknown Array rs41275442 1506 10758 0.139989 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.722 - - 2 - 0 N - - MACROD2 Ser122Pro S122P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MACROD2 Ser357Pro S357P not reviewed Insufficiently evaluated not reviewed unknown Array rs62194199 26 10758 0.00241681 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAD1L1 Arg558His R558H not reviewed Insufficiently evaluated not reviewed unknown Array rs1801368 2878 10514 0.27373 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAD1L1 Arg400Trp R400W not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MADCAM1 Asp234Asn D234N not reviewed Insufficiently evaluated not reviewed unknown Array rs72970252 1463 10756 0.136017 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MADCAM1 Ser240Pro S240P not reviewed Insufficiently evaluated not reviewed unknown Array rs62130832 3504 10754 0.325832 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MADCAM1 Asp242Asn D242N not reviewed Insufficiently evaluated not reviewed unknown Array rs62130833 2884 10752 0.268229 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MADCAM1 Pro246Gln P246Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1063736 2292 10744 0.213328 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MADCAM1 Ser248Pro S248P not reviewed Insufficiently evaluated not reviewed unknown Array rs1140822 4062 10736 0.378353 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MADCAM1 Pro262Gln P262Q not reviewed Insufficiently evaluated not reviewed unknown Array 4289 10598 0.404699 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MADCAM1 Pro300His P300H not reviewed Insufficiently evaluated not reviewed unknown Array rs3745925 2123 10628 0.199755 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MADD Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 4 - - MADD Gly217Asp G217D not reviewed Insufficiently evaluated not reviewed unknown Array rs60183400 369 10758 0.0343001 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.292 Y - 4 Y 2 N - - MADD Arg327Stop R327X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 4 - 1 - - MADD Val751Met V751M not reviewed Insufficiently evaluated not reviewed unknown Array rs1051006 2426 10758 0.225507 25 0 26 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - MADD Arg765Gln R765Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3736101 881 10758 0.0818925 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - MADD Arg766Stop R766X not reviewed Insufficiently evaluated not reviewed unknown Array rs35233100 478 10758 0.0444321 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - MADD Glu884Lys E884K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MADD Glu904Lys E904K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.924 Y - 0 - 3 N - - MADD Glu927Lys E927K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.931 Y - 0 - 3 N - - MADD Glu947Lys E947K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.931 Y - 0 - 3 N - - MAEA Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAEA Arg271Gln R271Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.428 - - 0 - 1 N - - MAEL Ser41Ala S41A not reviewed Insufficiently evaluated not reviewed unknown Array rs11578336 2994 10744 0.278667 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAEL Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - MAEL Pro212His P212H not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.147 - - 5 Y 0 N - - MAF1 Gly236Arg G236R not reviewed Insufficiently evaluated not reviewed unknown Array rs11546144 9118 10726 0.850084 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MAFA Phe331Tyr F331Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.453 - - -4 - 1 N - - MAFK Met100Val M100V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - MAG Leu202Met L202M not reviewed Insufficiently evaluated not reviewed unknown Array rs36055167 40 10642 0.00375869 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.984 - Y -3 - 3 N - - MAG Val302Asp V302D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 - Y 8 Y 2 - 1 - - MAGEA1 Arg72Gln R72Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2008144 737 8761 0.0841228 18 0 28 0 0 - - - - - - - - - - - - - - - - 0.338 - - 0 - 0 N - - MAGEA1 Ala63Thr A63T not reviewed Insufficiently evaluated not reviewed unknown Array rs2233044 172 8761 0.0196325 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAGEA1 Thr32Ala T32A not reviewed Insufficiently evaluated not reviewed unknown Array rs2008160 2173 8761 0.248031 23 0 40 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MAGEA10 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array rs210586 8540 8761 0.974775 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MAGEA10 Arg166Lys R166K not reviewed Insufficiently evaluated not reviewed unknown Array rs210585 8208 8761 0.936879 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MAGEA11 Asp11Tyr D11Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAGEA11 Asp40Tyr D40Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73640691 224 8761 0.0255679 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - MAGEA4 Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array rs1047251 4945 8761 0.564433 38 0 64 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAGEA6 Pro148Leu P148L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MAGEA6 Ser152Ile S152I not reviewed Insufficiently evaluated not reviewed unknown Array rs7056365 1330 8759 0.151844 14 0 20 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 1 N - - MAGEA6 Arg234Thr R234T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.511 - - 3 - 1 N - - MAGEA6 Arg234Ser R234S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.822 - - 3 - 1 N - - MAGEA6 Glu235Asp E235D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.5 - - -2 - 1 N - - MAGEA8 Ser306Phe S306F not reviewed Insufficiently evaluated not reviewed unknown Array rs12010332 473 8759 0.0540016 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 4 - - MAGEB10 Pro40His P40H not reviewed Insufficiently evaluated not reviewed unknown Array rs73538232 325 8759 0.0371047 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - MAGEB10 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732282 325 8759 0.0371047 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - MAGEB10 Phe50Ser F50S not reviewed Insufficiently evaluated not reviewed unknown Array rs1368769 4576 8759 0.522434 31 0 53 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MAGEB10 Arg65Gln R65Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12557898 3377 8758 0.38559 22 0 38 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - MAGEB16 Leu38Phe L38F not reviewed Insufficiently evaluated not reviewed unknown Array rs1410961 4577 8169 0.560289 42 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGEB16 Cys128Tyr C128Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1410962 4463 7996 0.558154 42 0 78 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MAGEB16 His161Arg H161R not reviewed Insufficiently evaluated not reviewed unknown Array rs5973488 4646 8328 0.557877 42 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAGEB16 Met248Val M248V not reviewed Insufficiently evaluated not reviewed unknown Array rs4829390 1001 8652 0.115696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGEB16 Met248Lys M248K not reviewed Insufficiently evaluated not reviewed unknown Array rs4829391 979 8658 0.113075 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MAGEB16 Arg272Stop R272X not reviewed Insufficiently evaluated not reviewed unknown Array rs4829392 4805 8749 0.549206 41 0 76 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MAGEB18 Pro40Ser P40S not reviewed Insufficiently evaluated not reviewed unknown Array rs5944317 4880 8759 0.557141 39 0 71 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MAGEB2 Cys41Tyr C41Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 8757 0.000114194 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 3 - 1 - - MAGEB2 Glu61Lys E61K not reviewed Insufficiently evaluated not reviewed unknown Array rs2529541 8380 8719 0.961119 54 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGEB2 Thr103Ala T103A not reviewed Insufficiently evaluated not reviewed unknown Array rs7878409 190 8759 0.021692 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 1 N - - MAGEB3 Arg107His R107H not reviewed Insufficiently evaluated not reviewed unknown Array rs2071308 3550 8759 0.405297 32 0 52 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MAGEB3 Ile112Thr I112T not reviewed Insufficiently evaluated not reviewed unknown Array rs2071309 7841 8759 0.895194 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEB4 Ala50Gly A50G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.096 - - 1 - 0 N - - MAGEB6 Val144Ile V144I not reviewed Insufficiently evaluated not reviewed unknown Array 83 8759 0.00947597 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAGEB6 Gly155Ala G155A not reviewed Insufficiently evaluated not reviewed unknown Array rs73499811 421 8759 0.0480648 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - MAGEC1 Cys25Tyr C25Y not reviewed Insufficiently evaluated not reviewed unknown Array rs176036 1680 8761 0.191759 19 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MAGEC1 Thr151Ile T151I not reviewed Insufficiently evaluated not reviewed unknown Array rs176037 3323 8761 0.379295 16 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC1 Thr221Ser T221S not reviewed Insufficiently evaluated not reviewed unknown Array rs56097838 14 38 0.368421 11 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MAGEC1 Ser223Arg S223R not reviewed Insufficiently evaluated not reviewed unknown Array rs6634333 14 41 0.341463 11 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC1 Phe225Ser F225S not reviewed Insufficiently evaluated not reviewed unknown Array rs55909043 2052 8749 0.234541 11 0 19 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 1 - - MAGEC1 Ala229Pro A229P not reviewed Insufficiently evaluated not reviewed unknown Array 435 8750 0.0497143 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEC1 Pro232Leu P232L not reviewed Insufficiently evaluated not reviewed unknown Array 89 8746 0.0101761 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAGEC1 Pro239Ser P239S not reviewed Insufficiently evaluated not reviewed unknown Array rs176040 2797 8692 0.32179 15 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC1 Ser241Phe S241F not reviewed Insufficiently evaluated not reviewed unknown Array rs12558365 1779 8660 0.205427 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MAGEC1 Leu246Val L246V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGEC1 Phe252Ser F252S not reviewed Insufficiently evaluated not reviewed unknown Array 2428 7707 0.315038 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MAGEC1 Ser253Pro S253P not reviewed Insufficiently evaluated not reviewed unknown Array 2383 7552 0.315546 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC1 Ala264Pro A264P not reviewed Insufficiently evaluated not reviewed unknown Array rs176042 675 7982 0.0845653 11 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MAGEC1 Ser267Pro S267P not reviewed Insufficiently evaluated not reviewed unknown Array 3767 8162 0.461529 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC1 Ser267Phe S267F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAGEC1 Phe276Ser F276S not reviewed Insufficiently evaluated not reviewed unknown Array 424 8330 0.0509004 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 3 - - MAGEC1 Val281Leu V281L not reviewed Insufficiently evaluated not reviewed unknown Array rs176044 814 8459 0.0962289 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGEC1 Leu283Ile L283I not reviewed Insufficiently evaluated not reviewed unknown Array rs176045 4379 8663 0.505483 11 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MAGEC1 Pro288Ser P288S not reviewed Insufficiently evaluated not reviewed unknown Array 19 8726 0.0021774 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGEC1 Pro323Ser P323S not reviewed Insufficiently evaluated not reviewed unknown Array rs57166116 73 8746 0.00834667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGEC1 His327Gln H327Q not reviewed Insufficiently evaluated not reviewed unknown Array rs176047 5871 8745 0.671355 15 0 29 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAGEC1 Gln362His Q362H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAGEC1 Thr364Ala T364A not reviewed Insufficiently evaluated not reviewed unknown Array rs4824884 1466 8748 0.167581 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAGEC1 His397Gln H397Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 8757 0.00673747 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAGEC1 Pro404Ala P404A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEC1 Leu443Val L443V not reviewed Insufficiently evaluated not reviewed unknown Array rs62611966 725 8747 0.0828856 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGEC1 His467Gln H467Q not reviewed Insufficiently evaluated not reviewed unknown Array rs176048 2027 8754 0.231551 12 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAGEC1 Gln566Arg Q566R not reviewed Insufficiently evaluated not reviewed unknown Array rs58318084 892 8761 0.101815 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGEC1 His709Tyr H709Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56256227 771 8761 0.0880037 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 2 - - MAGEC3 Ser155Pro S155P not reviewed Insufficiently evaluated not reviewed unknown Array rs11095909 26 89 0.292135 17 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC3 Leu165Met L165M not reviewed Insufficiently evaluated not reviewed unknown Array rs11095910 25 92 0.271739 22 0 32 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MAGEC3 Ala307Thr A307T not reviewed Insufficiently evaluated not reviewed unknown Array rs176024 23 38 0.605263 20 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAGEC3 Ala328Thr A328T not reviewed Insufficiently evaluated not reviewed unknown Array rs176026 48 83 0.578313 36 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAGEC3 Asp624Glu D624E not reviewed Insufficiently evaluated not reviewed unknown Array rs73579873 2 91 0.021978 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.955 - - -2 - 2 N - - MAGEE1 Ala216Thr A216T not reviewed Insufficiently evaluated not reviewed unknown Array rs5982146 349 8699 0.0401196 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - MAGEE1 Glu339Asp E339D not reviewed Insufficiently evaluated not reviewed unknown Array rs7051260 1840 8749 0.21031 13 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MAGEE2 Glu120Stop E120X not reviewed Insufficiently evaluated not reviewed unknown Array rs1343879 263 8761 0.0300194 12 0 20 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAGEF1 Glu236Ala E236A not reviewed Insufficiently evaluated not reviewed unknown Array rs9872799 7210 10758 0.670199 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEF1 Ala66Ser A66S not reviewed Insufficiently evaluated not reviewed unknown Array rs10937187 6327 10756 0.58823 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAGEH1 Glu66Gly E66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAGEL2 Ala268Val A268V not reviewed Insufficiently evaluated not reviewed unknown Array 104 10668 0.00974878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEL2 Ala268Ser A268S not reviewed Insufficiently evaluated not reviewed unknown Array 104 10666 0.00975061 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAGI1 Gln338Lys Q338K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - MAGI1 Gln337Lys Q337K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - -2 - 0 N - - MAGI1 Asn230Ser N230S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742506 535 10758 0.0497304 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - MAGI2 Ala1318Ser A1318S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MAGI3 Tyr1119Ser Y1119S not reviewed Insufficiently evaluated not reviewed unknown Array rs72990405 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAGIX Ser17Gly S17G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGIX His112Arg H112R not reviewed Insufficiently evaluated not reviewed unknown Array rs5906744 8156 8165 0.998898 55 0 110 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - MAGIX His45Arg H45R not reviewed Insufficiently evaluated not reviewed unknown Array rs5906744 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAGIX Val106Leu V106L not reviewed Insufficiently evaluated not reviewed unknown Array rs5905720 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGIX Val173Leu V173L not reviewed Insufficiently evaluated not reviewed unknown Array rs5905720 8166 8174 0.999021 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAGIX Val97Leu V97L not reviewed Insufficiently evaluated not reviewed unknown Array rs5905720 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGIX Phe242Leu F242L not reviewed Insufficiently evaluated not reviewed unknown Array rs4824462 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGIX Phe247Leu F247L not reviewed Insufficiently evaluated not reviewed unknown Array rs4824462 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGIX Phe251Leu F251L not reviewed Insufficiently evaluated not reviewed unknown Array rs4824462 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGIX Phe323Leu F323L not reviewed Insufficiently evaluated not reviewed unknown Array rs4824462 84 84 1 52 0 104 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MAGMAS Gln114Lys Q114K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAK16 Gln277Arg Q277R not reviewed Insufficiently evaluated not reviewed unknown Array rs6468171 6946 10758 0.645659 51 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAL Ser132Pro S132P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 3 - 7 - - MAL Ser34Pro S34P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - MAL Ser76Pro S76P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 6 - - MAL Ser90Pro S90P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 8 - - MAL2 Gly92Asp G92D not reviewed Insufficiently evaluated not reviewed unknown Array rs2303398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MALL Glu118Gln E118Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -2 - 2 N - - MAMDC2 Ser294Asn S294N not reviewed Insufficiently evaluated not reviewed unknown Array rs1998972 9024 10758 0.838818 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAMDC2 Val646Ala V646A not reviewed Insufficiently evaluated not reviewed unknown Array rs35534839 188 10752 0.0174851 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 1 - 2 - - MAMDC4 Leu535Met L535M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -3 - 0 N - - MAMDC4 Glu669Lys E669K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10718 0.000373203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAMDC4 Trp908Gly W908G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275156 8185 10728 0.762957 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MAMDC4 Ala958Thr A958T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10670 9.372e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAMDC4 Pro1043His P1043H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - MAML1 Gly97Arg G97R not reviewed Insufficiently evaluated not reviewed unknown Array 60 3036 0.0197628 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.403 - - 6 Y 2 - 1 - - MAML1 Ser438Gly S438G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.426 - - 2 - 1 N - - MAML1 Ser583Asn S583N not reviewed Insufficiently evaluated not reviewed unknown Array rs41285557 373 10756 0.0346783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAML1 Ser1007Asn S1007N not reviewed Insufficiently evaluated not reviewed unknown Array rs6895902 3224 10754 0.299795 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAML2 Gln655Lys Q655K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAML2 Ile480Met I480M not reviewed Insufficiently evaluated not reviewed unknown Array rs61749251 148 10354 0.014294 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAML2 Ser185Thr S185T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9618 0.000207943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAML3 Pro1060His P1060H not reviewed Insufficiently evaluated not reviewed unknown Array rs61747885 1314 10740 0.122346 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MAML3 Pro1060Ser P1060S not reviewed Insufficiently evaluated not reviewed unknown Array rs4863506 104 10740 0.00968343 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MAML3 Ser288Pro S288P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAMLD1 His347Gln H347Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62641609 4 92 0.0434783 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAMLD1 Val505Ala V505A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740566 4 92 0.0434783 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAMSTR Pro286Ser P286S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAMSTR Pro389Ser P389S not reviewed Insufficiently evaluated not reviewed unknown Array rs73057542 98 10732 0.00913157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAN1B1 Asn59Ser N59S not reviewed Insufficiently evaluated not reviewed unknown Array rs968733 9624 10538 0.913266 42 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAN1B1 Glu184Asp E184D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAN1B1 Ala185Pro A185P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - MAN1B1 Pro201Leu P201L not reviewed Insufficiently evaluated not reviewed unknown Array rs73569515 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - MAN1B1 Gly477Arg G477R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10466 0.00429964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - MAN1C1 Val617Met V617M not reviewed Insufficiently evaluated not reviewed unknown Array rs79507311 104 10758 0.00966722 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - MAN2A1 Thr390Pro T390P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAN2A1 Asp615Glu D615E not reviewed Insufficiently evaluated not reviewed unknown Array 33 10752 0.0030692 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAN2A1 Val685Ala V685A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 1 - - MAN2A2 Thr93Met T93M not reviewed Insufficiently evaluated not reviewed unknown Array rs28446956 743 10758 0.0690649 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MAN2A2 Gln412Arg Q412R not reviewed Insufficiently evaluated not reviewed unknown Array rs2106673 3315 10758 0.308143 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAN2A2 Ser665Phe S665F not reviewed Insufficiently evaluated not reviewed unknown Array rs1266494 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAN2A2 Val995Met V995M not reviewed Insufficiently evaluated not reviewed unknown Array rs12909056 1632 10758 0.151701 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAN2A2 Arg1039His R1039H not reviewed Insufficiently evaluated not reviewed unknown Array rs52828316 547 10758 0.0508459 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAN2B1 Gly741Arg G741R not reviewed Insufficiently evaluated not reviewed unknown Array rs61234887 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 6 Y 4 N - - MAN2B1 Pro669Leu P669L benign Insufficiently evaluated benign unknown Array 8 10758 0.000743632 0 0 0 0 0 4 Y - - - - - - 0 Y - - Y - - - 0.96 Y Y 7 Y 4 N - - MAN2B1 Gln582Glu Q582E not reviewed Insufficiently evaluated not reviewed unknown Array rs59357922 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -2 - 2 N - - MAN2B1 Ala481Ser A481S not reviewed Insufficiently evaluated not reviewed unknown Array rs34544747 793 10758 0.0737126 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - MAN2B1 Asn413Ser N413S not reviewed Insufficiently evaluated not reviewed unknown Array rs35836657 886 10754 0.0823879 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.489 Y Y 0 - 2 N - - MAN2B1 Arg337Gln R337Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1133330 4014 10758 0.373118 33 0 40 0 0 3 Y - - - - - - - - - - Y - - - 0.027 Y Y 0 - 3 - 1 - - MAN2B1 Thr312Ile T312I not reviewed Insufficiently evaluated not reviewed unknown Array rs1054487 4922 10758 0.45752 41 0 55 0 0 3 Y - - - - - - - - - - Y - - - 0.045 Y Y 3 - 2 N - - MAN2B1 Leu278Val L278V not reviewed Insufficiently evaluated not reviewed unknown Array rs1054486 3456 10758 0.321249 36 0 41 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - MAN2B2 Gln243Pro Q243P not reviewed Insufficiently evaluated not reviewed unknown Array rs2301796 4172 10758 0.387804 36 0 43 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MAN2B2 Val320Met V320M not reviewed Insufficiently evaluated not reviewed unknown Array rs2301795 5251 10758 0.488102 39 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAN2B2 Met446Val M446V not reviewed Insufficiently evaluated not reviewed unknown Array rs2301790 5003 10758 0.465049 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAN2B2 Asn541Ser N541S not reviewed Insufficiently evaluated not reviewed unknown Array rs2301788 5448 10758 0.506414 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAN2B2 Gly624Arg G624R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733402 729 10758 0.0677635 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MAN2B2 Met671Thr M671T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733400 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAN2B2 Tyr676His Y676H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729247 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAN2B2 Arg681His R681H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733399 197 10758 0.018312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAN2B2 Arg886His R886H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAN2C1 Val960Ile V960I not reviewed Insufficiently evaluated not reviewed unknown Array rs3803466 36 10714 0.00336009 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MAN2C1 Ala954Thr A954T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 1 - 1 N - - MAN2C1 Arg818His R818H not reviewed Insufficiently evaluated not reviewed unknown Array rs58557444 51 10758 0.00474066 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.151 - - 1 - 1 - 1 - - MAN2C1 Arg768Gln R768Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.526 - - 0 - 1 N - - MAN2C1 Met336Thr M336T not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - MANBA Val828Ile V828I not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.968 Y - -4 - 3 N - - MANBA Thr701Met T701M not reviewed Insufficiently evaluated not reviewed unknown Array rs2866413 5934 10758 0.551589 45 0 61 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - MANBA Val253Ile V253I not reviewed Insufficiently evaluated not reviewed unknown Array rs227368 4125 10758 0.383436 27 0 34 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -4 - 2 - 1 - - MANEA Thr82Ile T82I not reviewed Insufficiently evaluated not reviewed unknown Array rs62417812 1062 10758 0.0987172 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - MANEA Arg177Cys R177C not reviewed Insufficiently evaluated not reviewed unknown Array rs62619206 509 10262 0.0496005 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - MANEA Phe344Ile F344I not reviewed Insufficiently evaluated not reviewed unknown Array rs35772543 686 10756 0.0637784 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 1 N - - MANEA Leu350Ser L350S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - MANEA Ile384Thr I384T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MANEA Arg457His R457H not reviewed Insufficiently evaluated not reviewed unknown Array 570 10752 0.0530134 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MANF Arg1Met R1M not reviewed Insufficiently evaluated not reviewed unknown Array rs13091931 6528 7052 0.925695 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MANSC1 Asp165Asn D165N not reviewed Insufficiently evaluated not reviewed unknown Array rs17375215 706 10758 0.0656256 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 1 N - - MANSC1 Leu141Val L141V not reviewed Insufficiently evaluated not reviewed unknown Array rs34668262 44 10758 0.00408998 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.191 - - 0 - 0 N - - MANSC1 Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array rs3741798 1131 10758 0.105131 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MAP1A Asp1245Asn D1245N not reviewed Insufficiently evaluated not reviewed unknown Array rs71471869 1607 10520 0.152757 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.979 - - -1 - 1 N - - MAP1A Asp1461Asn D1461N not reviewed Insufficiently evaluated not reviewed unknown Array rs2245715 2443 9636 0.253528 36 0 54 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 0 N - - MAP1A Ala1470Thr A1470T not reviewed Insufficiently evaluated not reviewed unknown Array rs62020612 1848 9650 0.191503 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - MAP1A Leu1621Val L1621V not reviewed Insufficiently evaluated not reviewed unknown Array 319 9770 0.032651 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - MAP1B Ile219Phe I219F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP1B Ile219Met I219M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP1B Ile594Val I594V not reviewed Insufficiently evaluated not reviewed unknown Array rs1866374 9354 10758 0.869492 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MAP1B Ala796Thr A796T not reviewed Insufficiently evaluated not reviewed unknown Array rs35473133 178 10754 0.016552 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP1B Glu869Gly E869G not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - MAP1B Pro1296Leu P1296L not reviewed Insufficiently evaluated not reviewed unknown Array rs34093016 134 10758 0.0124558 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP1B Glu1890Asp E1890D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP1B Ser1917Arg S1917R not reviewed Insufficiently evaluated not reviewed unknown Array rs13153166 358 10754 0.0332899 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP1D Gly14Val G14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAP1S Ser411Cys S411C not reviewed Insufficiently evaluated not reviewed unknown Array rs17710707 1222 9848 0.124086 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 0 N - - MAP1S Cys440Tyr C440Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12983721 1830 9786 0.187002 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 1 N - - MAP1S Ser640Phe S640F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - MAP1S Glu649Lys E649K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.556 - - 0 - 1 N - - MAP1S Asp1006His D1006H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10750 0.0064186 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - MAP2 Arg423Lys R423K not reviewed Insufficiently evaluated not reviewed unknown Array rs741006 1426 10758 0.132553 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MAP2K3 Thr10Ile T10I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP2K3 Thr39Ile T39I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.65 - - 3 - 1 N - - MAP2K3 Pro11Thr P11T not reviewed Insufficiently evaluated not reviewed unknown Array rs33911218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAP2K3 Pro40Thr P40T not reviewed Insufficiently evaluated not reviewed unknown Array rs33911218 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 1 N - - MAP2K3 Asp25Glu D25E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP2K3 Asp54Glu D54E not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP2K3 Arg26Thr R26T not reviewed Insufficiently evaluated not reviewed unknown Array rs36047035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - MAP2K3 Arg55Thr R55T not reviewed Insufficiently evaluated not reviewed unknown Array rs36047035 59 118 0.5 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAP2K3 Ser39Pro S39P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP2K3 Ser68Pro S68P not reviewed Insufficiently evaluated not reviewed unknown Array rs34105301 50 100 0.5 40 0 40 0 0 - - - - - - - - - - - - - - - - 0.029 - - 3 - 0 N - - MAP2K3 Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP2K3 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array rs2305873 2482 10754 0.230798 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAP2K3 Arg65Leu R65L not reviewed Insufficiently evaluated not reviewed unknown Array rs56067280 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP2K3 Arg94Leu R94L not reviewed Insufficiently evaluated not reviewed unknown Array rs56067280 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - MAP2K3 Arg67Trp R67W not reviewed Insufficiently evaluated not reviewed unknown Array rs56216806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP2K3 Arg96Trp R96W not reviewed Insufficiently evaluated not reviewed unknown Array rs56216806 64 128 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - MAP2K3 Gln102Stop Q102X not reviewed Insufficiently evaluated not reviewed unknown Array rs55796947 64 128 0.5 56 0 55 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MAP2K3 Gln73Stop Q73X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAP2K3 Leu186Trp L186W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAP2K3 Leu215Trp L215W not reviewed Insufficiently evaluated not reviewed unknown Array rs74575904 9 10758 0.000836586 33 0 33 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - MAP2K3 Thr193Met T193M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP2K3 Thr222Met T222M not reviewed Insufficiently evaluated not reviewed unknown Array rs58609466 3113 10758 0.289366 5 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - MAP2K3 Arg264His R264H not reviewed Insufficiently evaluated not reviewed unknown Array rs35206134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP2K3 Arg293His R293H not reviewed Insufficiently evaluated not reviewed unknown Array rs35206134 60 120 0.5 51 0 51 0 0 - - - - - - - - - - - - - - - - 0.338 - - 1 - 0 N - - MAP2K3 Val310Met V310M not reviewed Insufficiently evaluated not reviewed unknown Array rs2363198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP2K3 Val339Met V339M not reviewed Insufficiently evaluated not reviewed unknown Array rs2363198 51 102 0.5 43 0 43 0 0 - - - - - - - - - - - - - - - - 0.815 - - 0 - 0 N - - MAP2K5 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 7 Y 2 N - - MAP2K5 Arg125Gln R125Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - MAP3K1 Val591Phe V591F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP3K1 Val591Gly V591G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAP3K1 Ser592Cys S592C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP3K1 Asp806Asn D806N not reviewed Insufficiently evaluated not reviewed unknown Array rs702689 6216 9632 0.645349 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAP3K1 Val906Ile V906I not reviewed Insufficiently evaluated not reviewed unknown Array rs832582 7738 9740 0.794456 54 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MAP3K13 Glu44Lys E44K not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - MAP3K14 Ser902Stop S902X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAP3K14 Ser140Asn S140N not reviewed Insufficiently evaluated not reviewed unknown Array rs11574819 84 10108 0.00831025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - MAP3K15 Asn504His N504H not reviewed Insufficiently evaluated not reviewed unknown Array rs55787622 5 8761 0.000570711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP3K15 Ser468Leu S468L not reviewed Insufficiently evaluated not reviewed unknown Array rs56233219 112 8761 0.0127839 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP3K15 Gly261Arg G261R not reviewed Insufficiently evaluated not reviewed unknown Array 135 8761 0.0154092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - MAP3K4 Arg157His R157H not reviewed Insufficiently evaluated not reviewed unknown Array rs4559074 10416 10758 0.96821 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAP3K6 Gly1233Ala G1233A not reviewed Insufficiently evaluated not reviewed unknown Array rs17162549 1022 10758 0.0949991 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MAP3K6 Lys1024Glu K1024E not reviewed Insufficiently evaluated not reviewed unknown Array 138 10750 0.0128372 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP3K6 Asn622Lys N622K not reviewed Insufficiently evaluated not reviewed unknown Array rs35659744 2229 10470 0.212894 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - MAP3K6 Thr455Ile T455I not reviewed Insufficiently evaluated not reviewed unknown Array rs1138294 2996 10758 0.27849 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAP3K6 Asp200Tyr D200Y not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - MAP3K7IP2 Pro385Leu P385L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP3K7IP3 Trp394Arg W394R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP3K7IP3 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP3K9 His891Tyr H891Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746639 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP3K9 Tyr646Cys Y646C not reviewed Insufficiently evaluated not reviewed unknown Array rs34322726 172 10758 0.0159881 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - MAP3K9 Gly503Ser G503S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - MAP4 Val628Ile V628I not reviewed Insufficiently evaluated not reviewed unknown Array rs1137524 4172 10758 0.387804 35 0 40 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 1 N - - MAP4 Glu441Gln E441Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230169 556 10758 0.0516825 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 1 N - - MAP4 Ser427Tyr S427Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1060407 2675 10758 0.248652 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - MAP4 Thr216Met T216M not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - MAP4 Pro135Ser P135S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - MAP4 Arg23Gln R23Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11711953 602 10758 0.0559584 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - MAP4K1 Asn811Ser N811S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - MAP4K5 Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array 84 9624 0.00872818 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - MAP4K5 Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array rs12881869 486 9654 0.0503418 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 4 - - MAP6 Met543Ile M543I not reviewed Insufficiently evaluated not reviewed unknown Array rs35165133 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP6 Ile247Met I247M not reviewed Insufficiently evaluated not reviewed unknown Array rs12225010 703 1982 0.354692 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAP7 Arg558Trp R558W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 8514 10464 0.813647 51 0 78 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MAP7 Ser435Leu S435L not reviewed Insufficiently evaluated not reviewed unknown Array 60 10738 0.00558763 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP7 Met429Thr M429T not reviewed Insufficiently evaluated not reviewed unknown Array 125 10738 0.0116409 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP7 Gly341Asp G341D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAP7 Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7D1 Arg433Trp R433W not reviewed Insufficiently evaluated not reviewed unknown Array rs61737153 323 10736 0.0300857 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MAP7D1 Arg531Ser R531S not reviewed Insufficiently evaluated not reviewed unknown Array rs12563354 109 10720 0.0101679 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 1 - 3 - - MAP7D2 Asn182Ser N182S not reviewed Insufficiently evaluated not reviewed unknown Array rs34519770 4115 8761 0.469695 24 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAP7D3 Gln628Arg Q628R not reviewed Insufficiently evaluated not reviewed unknown Array rs2273221 3545 7647 0.46358 33 0 55 0 0 - - - - - - - - - - - - - - - - 0.365 - - 0 - 0 N - - MAP7D3 Lys559Arg K559R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - -3 - 0 N - - MAP7D3 Glu502Ala E502A not reviewed Insufficiently evaluated not reviewed unknown Array rs1055497 4327 8077 0.535719 38 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAP9 Asn601Asp N601D not reviewed Insufficiently evaluated not reviewed unknown Array rs2305050 6425 10758 0.59723 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAP9 Lys499Arg K499R not reviewed Insufficiently evaluated not reviewed unknown Array rs1058992 3487 10752 0.324312 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 1 N - - MAP9 Ala319Val A319V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - MAP9 Pro215Thr P215T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753569 434 10758 0.0403421 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - MAP9 Arg177Trp R177W not reviewed Insufficiently evaluated not reviewed unknown Array rs3733391 1647 10758 0.153095 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - MAP9 Met146Val M146V not reviewed Insufficiently evaluated not reviewed unknown Array rs34082815 702 10756 0.0652659 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 1 - - MAP9 Ile32Val I32V not reviewed Insufficiently evaluated not reviewed unknown Array rs73855411 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - -4 - 1 N - - MAPK11 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array rs33932986 178 10758 0.0165458 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 4 - - MAPK11 Ile259Met I259M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.225 - - -1 - 2 - 1 - - MAPK12 Thr103Met T103M not reviewed Insufficiently evaluated not reviewed unknown Array rs34422484 513 10756 0.0476943 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPK13 Ser261Pro S261P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - MAPK13 Ala300Thr A300T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MAPK15 Thr221Lys T221K not reviewed Insufficiently evaluated not reviewed unknown Array rs60732298 984 10758 0.0914668 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.925 - - 3 - 1 N - - MAPK15 Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array rs34410761 638 10014 0.0637108 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MAPK15 Gly425Glu G425E not reviewed Insufficiently evaluated not reviewed unknown Array rs35834318 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.469 - - 6 Y 1 N - - MAPK15 Val544Met V544M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK4 Val38Met V38M not reviewed Insufficiently evaluated not reviewed unknown Array rs3752087 3220 10404 0.309496 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAPK4 Pro454Ala P454A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPK6 Leu290Val L290V not reviewed Insufficiently evaluated not reviewed unknown Array rs35697691 698 10758 0.064882 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - MAPK8IP1 Cys62Stop C62X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAPK8IP1 Arg353Gln R353Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12295161 49 10598 0.00462351 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.454 - - 0 - 2 - 5 - - MAPK8IP2 Ser490Asn S490N not reviewed Insufficiently evaluated not reviewed unknown Array rs3219201 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK8IP2 Ser517Asn S517N not reviewed Insufficiently evaluated not reviewed unknown Array rs3219201 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK8IP2 Gly705Trp G705W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAPK8IP2 Gly732Trp G732W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAPK8IP2 Pro716Leu P716L not reviewed Insufficiently evaluated not reviewed unknown Array rs1140555 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAPK8IP2 Pro743Leu P743L not reviewed Insufficiently evaluated not reviewed unknown Array rs1140555 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAPK8IP2 Arg768Gln R768Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK8IP2 Arg795Gln R795Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK8IP3 Arg515Pro R515P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAPK8IP3 Arg521Pro R521P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - MAPK8IP3 Thr747Ala T747A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAPK8IP3 Thr753Ala T753A not reviewed Insufficiently evaluated not reviewed unknown Array rs2294619 2363 10308 0.229239 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAPKAP1 Gln176Lys Q176K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAPKAP1 Gln332Lys Q332K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAPKAP1 Gln368Lys Q368K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.361 - - -2 - 1 N - - MAPKAPK3 Arg282Cys R282C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - MAPKAPK5 Thr214Met T214M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - MAPKBP1 Leu307Val L307V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPKBP1 Leu313Val L313V not reviewed Insufficiently evaluated not reviewed unknown Array rs1201689 3998 10758 0.37163 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAPKBP1 Arg1234Pro R1234P not reviewed Insufficiently evaluated not reviewed unknown Array rs3959569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAPKBP1 Arg1240Pro R1240P not reviewed Insufficiently evaluated not reviewed unknown Array rs3959569 2673 10756 0.248512 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.303 - - 5 Y 0 N - - MAPT His147Tyr H147Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.824 Y Y -1 - 3 N - - MAPT Pro202Leu P202L not reviewed Insufficiently evaluated not reviewed unknown Array rs63750417 1759 10638 0.165351 10 0 11 0 0 3 Y - - - - - - - - - - Y - - - 0.994 Y Y 7 Y 3 N - - MAPT Asp285Asn D285N not reviewed Insufficiently evaluated not reviewed unknown Array rs62063786 1794 10758 0.16676 9 0 9 0 0 5 Y - - - - - - - - - - Y - - - 0.014 Y Y -1 - 3 - 3 - - MAPT Val289Ala V289A not reviewed Insufficiently evaluated not reviewed unknown Array rs62063787 1793 10758 0.166667 8 0 8 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - MAPT Ser318Leu S318L not reviewed Insufficiently evaluated not reviewed unknown Array rs73314997 641 10758 0.0595836 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.578 Y Y 6 Y 2 N - - MAPT Arg370Trp R370W benign Low clinical importance, Uncertain benign unknown Array rs17651549 1539 9894 0.155549 10 0 11 1 1 ! Y - - 5 Y - - - - - - Y - - - 0.996 Y Y 7 Y 4 Y 0 0 Probably benign. MAPT His441Tyr H441Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2258689 95 128 0.742188 51 0 78 0 0 3 Y - - - - - - - - - - Y - - - 0.985 Y Y -1 - 4 - 2 - - MAPT Ser447Pro S447P not reviewed Insufficiently evaluated not reviewed unknown Array rs10445337 1784 10758 0.16583 10 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 4 - - MARCH1 Ser74Asn S74N not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARCH10 His429Tyr H429Y not reviewed Insufficiently evaluated not reviewed unknown Array rs60472825 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.916 - - -1 - 2 N - - MARCH10 Pro400Leu P400L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.423 - - 7 Y 1 N - - MARCH10 Phe319Ser F319S not reviewed Insufficiently evaluated not reviewed unknown Array rs9891498 3456 10758 0.321249 34 0 40 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - MARCH10 Pro81Ser P81S not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.73 - - 3 - 1 N - - MARCH2 Ala54Thr A54T not reviewed Insufficiently evaluated not reviewed unknown Array rs1133893 2738 10758 0.254508 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MARCH2 Arg149Pro R149P not reviewed Insufficiently evaluated not reviewed unknown Array rs34099346 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MARCH2 Arg219Pro R219P not reviewed Insufficiently evaluated not reviewed unknown Array rs34099346 1118 10758 0.103923 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MARCH7 Gly379Ser G379S not reviewed Insufficiently evaluated not reviewed unknown Array rs13024801 693 10758 0.0644172 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MARCH8 Tyr266His Y266H not reviewed Insufficiently evaluated not reviewed unknown Array rs7908745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MARCH8 Asp119Asn D119N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MARCH8 Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MARCO Phe81Ser F81S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 10 - - MARCO Gly109Arg G109R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - MARCO Phe282Ser F282S not reviewed Insufficiently evaluated not reviewed unknown Array rs6761637 1478 10758 0.137386 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MARCO Gly325Val G325V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MARCO Glu511Asp E511D not reviewed Insufficiently evaluated not reviewed unknown Array rs61732822 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - -2 - 2 - 1 - - MARK1 Ala541Pro A541P not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARK2 Pro293Thr P293T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MARK2 Pro326Thr P326T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - MARK3 Phe331Ser F331S not reviewed Insufficiently evaluated not reviewed unknown Array rs10137161 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MARK3 Phe394Ser F394S not reviewed Insufficiently evaluated not reviewed unknown Array rs10137161 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MARK3 Phe410Ser F410S not reviewed Insufficiently evaluated not reviewed unknown Array rs10137161 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MARK3 Ser364Gly S364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARK3 Ser427Gly S427G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARK3 Ser443Gly S443G not reviewed Insufficiently evaluated not reviewed unknown Array rs56305318 488 10060 0.0485089 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARK3 Ala591Thr A591T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARK3 Ala645Thr A645T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARK3 Ala661Thr A661T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARK3 Ala676Thr A676T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARK3 Ala685Thr A685T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARS Thr227Ile T227I not reviewed Insufficiently evaluated not reviewed unknown Array rs73344082 22 10758 0.00204499 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.092 - - 3 - 0 N - - MARS Pro775Ala P775A not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MARS Pro776Ala P776A not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARS2 Lys494Stop K494X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MARVELD2 Thr33Ile T33I not reviewed Insufficiently evaluated not reviewed unknown Array rs1185246 4991 10758 0.463934 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MARVELD2 Asp96Glu D96E not reviewed Insufficiently evaluated not reviewed unknown Array rs73113102 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MARVELD2 Leu300Met L300M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - MARVELD3 Glu60Lys E60K not reviewed Insufficiently evaluated not reviewed unknown Array rs4788821 2588 9278 0.278939 19 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MARVELD3 Asn72Lys N72K not reviewed Insufficiently evaluated not reviewed unknown Array 26 9244 0.00281263 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARVELD3 Arg91Gln R91Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61753635 2340 9506 0.24616 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MARVELD3 Phe236Leu F236L not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARVELD3 Asp357Asn D357N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAS1L Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730668 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - MASP1 Val568Ala V568A not reviewed Insufficiently evaluated not reviewed unknown Array rs13322090 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MASP1 Arg576Met R576M not reviewed Insufficiently evaluated not reviewed unknown Array rs72549154 773 10756 0.0718669 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MASP1 Val518Ile V518I not reviewed Insufficiently evaluated not reviewed unknown Array rs73068950 36 10758 0.00334635 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MASP1 Gly426Glu G426E not reviewed Insufficiently evaluated not reviewed unknown Array rs28945068 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MASP1 Arg295Lys R295K not reviewed Insufficiently evaluated not reviewed unknown Array rs73886128 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MASP2 Thr613Ile T613I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MASP2 Arg439His R439H not reviewed Insufficiently evaluated not reviewed unknown Array rs12085877 355 10750 0.0330233 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - MASP2 Val377Ala V377A not reviewed Insufficiently evaluated not reviewed unknown Array rs2273346 633 10758 0.0588399 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MASP2 Asp371Tyr D371Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12711521 6698 10758 0.622606 33 0 54 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MASP2 Pro126Leu P126L not reviewed Insufficiently evaluated not reviewed unknown Array rs56392418 423 10758 0.0393196 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAST1 Asn350His N350H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MAST2 Asp388Glu D388E not reviewed Insufficiently evaluated not reviewed unknown Array rs11211247 7632 9648 0.791045 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MAST2 Ile659Met I659M not reviewed Insufficiently evaluated not reviewed unknown Array rs1707336 4250 9810 0.433231 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - MAST2 Lys1197Arg K1197R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052607 559 10096 0.0553685 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 1 - 5 - - MAST2 Arg1246Leu R1246L not reviewed Insufficiently evaluated not reviewed unknown Array rs56309943 1 10326 9.6842e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 2 - - MAST2 Val1304Met V1304M not reviewed Insufficiently evaluated not reviewed unknown Array rs33931638 581 10460 0.0555449 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 - 5 - - MAST2 Ala1463Thr A1463T not reviewed Insufficiently evaluated not reviewed unknown Array rs3737738 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 4 - - MAST2 Gly1468Ala G1468A not reviewed Insufficiently evaluated not reviewed unknown Array rs3737737 215 10096 0.0212956 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.491 - - 1 - 2 - 3 - - MAST2 Lys1673Arg K1673R not reviewed Insufficiently evaluated not reviewed unknown Array rs34070850 461 9946 0.0463503 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.036 - - -3 - 0 N - - MAST3 Gly861Ser G861S not reviewed Insufficiently evaluated not reviewed unknown Array rs8108738 4510 9802 0.46011 36 0 52 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 0 N - - MAST3 Asp1234Asn D1234N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - MAST4 Arg1435Pro R1435P not reviewed Insufficiently evaluated not reviewed unknown Array rs1705399 9585 9856 0.972504 42 0 78 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MAST4 Ser1674Asn S1674N not reviewed Insufficiently evaluated not reviewed unknown Array rs56337909 452 9876 0.0457675 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAST4 Trp1686Arg W1686R not reviewed Insufficiently evaluated not reviewed unknown Array rs55970008 450 9760 0.0461066 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAST4 His1997Leu H1997L not reviewed Insufficiently evaluated not reviewed unknown Array rs56118404 231 9572 0.0241329 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MASTL Thr337Lys T337K not reviewed Insufficiently evaluated not reviewed unknown Array rs36121140 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 3 - 1 N - - MASTL Pro620Ala P620A not reviewed Insufficiently evaluated not reviewed unknown Array rs3802526 659 10758 0.0612567 11 0 11 0 0 - - - - - - - - - - - - Y - - - 0.923 Y - 2 - 3 - 2 - - MAT2B Glu21Lys E21K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MATK Ala455Thr A455T not reviewed Insufficiently evaluated not reviewed unknown Array rs35351680 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATK Ala496Thr A496T not reviewed Insufficiently evaluated not reviewed unknown Array rs35351680 360 10606 0.033943 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATK Ala497Thr A497T not reviewed Insufficiently evaluated not reviewed unknown Array rs35351680 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATK Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MATN1 Lys449Gln K449Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56851503 94 10758 0.00873768 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.5 - - -2 - 1 N - - MATN1 Thr246Pro T246P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - 4 Y 0 N - - MATN2 Thr187Met T187M not reviewed Insufficiently evaluated not reviewed unknown Array rs2290472 1379 10658 0.129386 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 1 N - - MATN2 Lys356Glu K356E not reviewed Insufficiently evaluated not reviewed unknown Array rs1869609 6044 10268 0.588625 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MATN2 Val610Ile V610I not reviewed Insufficiently evaluated not reviewed unknown Array 74 9782 0.00756491 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MATN2 Thr855Met T855M not reviewed Insufficiently evaluated not reviewed unknown Array rs2255317 1073 9644 0.111261 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - MATN2 Val913Ile V913I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - MATN2 Val932Ile V932I not reviewed Insufficiently evaluated not reviewed unknown Array rs17831160 221 9556 0.0231268 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 3 - 4 - - MATN3 Ala228Val A228V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10096 0.00198098 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 2 - 2 N - - MATN4 Asn493Lys N493K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATN4 Asn534Lys N534K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATN4 Asn575Lys N575K not reviewed Insufficiently evaluated not reviewed unknown Array rs2233106 317 10758 0.0294664 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATN4 Gly440Ser G440S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MATN4 Gly481Ser G481S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MATN4 Gly522Ser G522S not reviewed Insufficiently evaluated not reviewed unknown Array rs2227275 2666 10758 0.247816 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MATN4 Arg164Ser R164S not reviewed Insufficiently evaluated not reviewed unknown Array rs2072788 2479 10322 0.240167 23 0 30 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MAVS Gln93Glu Q93E not reviewed Insufficiently evaluated not reviewed unknown Array rs17857295 2161 10758 0.200874 23 0 30 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 1 N - - MAVS Gln198Lys Q198K not reviewed Insufficiently evaluated not reviewed unknown Array rs7262903 1827 10758 0.169827 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 1 N - - MAVS Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array rs45437096 1300 10758 0.12084 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.036 - - 8 Y 0 N - - MAVS Ser409Phe S409F not reviewed Insufficiently evaluated not reviewed unknown Array rs7269320 2463 10758 0.228946 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.985 - - 5 Y 1 N - - MAVS Gly413Ser G413S not reviewed Insufficiently evaluated not reviewed unknown Array rs62640879 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MBD1 Pro345Ala P345A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MBD1 Pro352Ala P352A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MBD1 Pro378Ala P378A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MBD1 Pro401Ala P401A not reviewed Insufficiently evaluated not reviewed unknown Array rs125555 1902 10758 0.176799 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 1 N - - MBD3L1 Arg190Cys R190C not reviewed Insufficiently evaluated not reviewed unknown Array rs2972588 9686 10750 0.901023 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MBD3L2 Gly124Ser G124S not reviewed Insufficiently evaluated not reviewed unknown Array 769 2704 0.284393 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MBD4 Glu346Lys E346K not reviewed Insufficiently evaluated not reviewed unknown Array rs140693 116 10758 0.0107827 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MBD4 Ser342Pro S342P not reviewed Insufficiently evaluated not reviewed unknown Array rs2307289 466 10758 0.0433166 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MBD4 Ala273Thr A273T not reviewed Insufficiently evaluated not reviewed unknown Array rs10342 876 10758 0.0814278 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MBIP Arg22Ser R22S not reviewed Insufficiently evaluated not reviewed unknown Array rs3168891 9910 10758 0.921175 52 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MBIP Leu7His L7H not reviewed Insufficiently evaluated not reviewed unknown Array rs2899849 8499 10758 0.790017 46 0 78 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MBL2 Glu210Stop E210X not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - MBL2 Gly57Glu G57E pathogenic Insufficiently evaluated pathogenic recessive Array rs1800451 986 10758 0.0916527 9 0 10 5 5 5 Y - - 0 Y 0 Y 1 Y 1 Y Y Y - - 0.999 Y - 6 Y Mannose-Binding Lectin Deficiency 2 493 3 505 0.683 4 N 8 - - This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. The wild-type version of this gene is known as variant allele A, while this is called variant allele C. See R52C (variant D) and G54D (variant B). MBL2 Gly54Asp G54D pathogenic Low clinical importance, Likely pathogenic recessive Array rs1800450 1118 10758 0.103923 4 0 4 3 3 2 Y - - 5 Y 0 Y 2 Y 2 Y Y Y - - 0.994 Y - 4 Y Mannose-Binding Lectin Deficiency 39 454 6 500 7.159 4 N 8 0 1 This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele B. See R52C (variant D) and G57E (variant C). MBL2 Arg52Cys R52C pathogenic Low clinical importance, Likely pathogenic recessive Array rs5030737 523 10758 0.048615 5 0 5 3 3 2 Y - - 3 Y 0 Y 2 Y 0 Y Y Y - - 0.999 Y - 8 Y Mannose-Binding Lectin Deficiency 18 477 4 501 4.726 5 N 8 0 1 This variant is associated with mannose binding protein deficiency which leads to impaired complement system immune response to mannose-rich pathogens. Patients homozygous for this allele or compound heterozygous are likely to have increased susceptibility to infection, but Hellemann et al. report heterosis for intensive care outcomes in heterozygous subjects. The wild-type version of this gene is known as variant allele A, while this is called variant allele D. See G54D (variant B) and G57E (variant C). MBLAC1 Gly150Cys G150C not reviewed Insufficiently evaluated not reviewed unknown Array 217 9392 0.0231048 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - MBLAC2 Thr128Ala T128A not reviewed Insufficiently evaluated not reviewed unknown Array rs2162986 10686 10688 0.999813 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MBNL1 Gly230Cys G230C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MBNL1 Gly298Cys G298C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MBNL1 Gly316Cys G316C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.166 - - 7 Y 0 N - - MBOAT1 Ile450Val I450V not reviewed Insufficiently evaluated not reviewed unknown Array rs2065649 583 10758 0.0541922 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - MBOAT1 Thr370Met T370M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - 2 - 2 N - - MBOAT1 Tyr19Cys Y19C not reviewed Insufficiently evaluated not reviewed unknown Array rs61737148 827 10756 0.0768873 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MBOAT2 Thr501Ala T501A not reviewed Insufficiently evaluated not reviewed unknown Array rs16866827 422 10756 0.0392339 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - MBOAT4 Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - 1 - 2 N - - MBOAT4 Thr46Ala T46A not reviewed Insufficiently evaluated not reviewed unknown Array rs7813902 2995 3232 0.926671 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MBOAT4 Pro11Ser P11S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - MBP Gly181Ser G181S not reviewed Insufficiently evaluated not reviewed unknown Array 231 10758 0.0214724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - MBP Gly48Ser G48S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742988 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - MC1R Val60Leu V60L benign Insufficiently evaluated benign unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - MC1R Arg151Cys R151C benign Insufficiently evaluated benign unknown Array 0 0 0 1 1 - - - - - - - - - - - - - Y Y - - - - 8 Y 3 N - - The MC1R gene encodes for a receptor protein for a melanin-stimulating hormone, so it is involved in melanogenesis (melanin production). Polymorphisms of this gene have been shown to cause increased susceptibility of skin cells to UV damage. Arg151Cys has been associated with melanoma. MC1R Val156Leu V156L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 8 - - MC1R Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MC2R Phe278Cys F278C not reviewed Insufficiently evaluated not reviewed unknown Array rs28926182 259 10758 0.0240751 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 4 - 8 - - MC3R Val44Ile V44I not reviewed Insufficiently evaluated not reviewed unknown Array rs3827103 2159 10758 0.200688 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MC4R Val103Ile V103I protective Low clinical importance, Uncertain protective unknown Array rs2229616 174 10758 0.016174 2 0 2 1 1 - - - - 1 Y - - - - - - Y - - Y 0.014 Y - -4 - 3 N 10 0 0 This variant was associated with a reduced incidence of obesity in a large meta-analysis of more than 55,000 individuals. MC5R Phe209Leu F209L not reviewed Insufficiently evaluated not reviewed unknown Array rs2236700 29 128 0.226562 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - MCAM Glu89Gly E89G not reviewed Insufficiently evaluated not reviewed unknown Array rs34587557 401 10756 0.0372815 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - MCART2 Leu239Ile L239I not reviewed Insufficiently evaluated not reviewed unknown Array rs3859364 10745 10746 0.999907 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MCART2 Thr205Ala T205A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740879 165 10758 0.0153374 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MCART2 Glu171Asp E171D not reviewed Insufficiently evaluated not reviewed unknown Array 171 10754 0.0159011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - MCAT Ala303Gly A303G not reviewed Insufficiently evaluated not reviewed unknown Array rs13815 5880 10758 0.54657 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MCAT Gly164Arg G164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 3 - 1 - - MCAT Arg79Gly R79G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10676 0.00252904 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 6 Y 0 N - - MCC Pro486Leu P486L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 1 - 4 - - MCC Pro676Leu P676L not reviewed Insufficiently evaluated not reviewed unknown Array 127 10756 0.0118074 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - MCC Asn441Ser N441S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - MCC Asn631Ser N631S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MCC Lys190Arg K190R not reviewed Insufficiently evaluated not reviewed unknown Array rs6594681 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MCC Lys380Arg K380R not reviewed Insufficiently evaluated not reviewed unknown Array rs6594681 10679 10756 0.992841 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MCC Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10276 0.0020436 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCC Ser25Gly S25G not reviewed Insufficiently evaluated not reviewed unknown Array 5819 9418 0.617859 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MCCC1 His464Pro H464P not reviewed Insufficiently evaluated not reviewed unknown Array rs2270968 6283 10758 0.584031 34 0 51 0 0 2 Y - - - - - - - - - - Y - - - - Y - 5 Y 2 - 2 - - MCCC1 His464Leu H464L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.61 Y - 6 Y 2 N - - MCCD1 Glu42Lys E42K not reviewed Insufficiently evaluated not reviewed unknown Array rs2259435 1205 7524 0.160154 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MCCD1 Ser45Asn S45N not reviewed Insufficiently evaluated not reviewed unknown Array rs3093983 6357 7522 0.845121 33 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MCCD1 Glu93Asp E93D not reviewed Insufficiently evaluated not reviewed unknown Array 2 7514 0.000266169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MCEE Arg104Leu R104L not reviewed Insufficiently evaluated not reviewed unknown Array rs6748672 2036 10758 0.189255 18 0 19 0 0 2 Y - - - - - - - - - - Y - - - 0.003 Y Y 6 Y 2 N - - MCEE Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array rs11541017 2880 10758 0.267708 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - MCF2 Ile788Thr I788T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 3 - 2 N - - MCF2 Ile848Thr I848T not reviewed Insufficiently evaluated not reviewed unknown Array 105 8754 0.0119945 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - MCF2L Ala344Val A344V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCF2L Ala397Val A397V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCF2L2 Met1015Thr M1015T not reviewed Insufficiently evaluated not reviewed unknown Array rs35070271 1416 10758 0.131623 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.716 - - 2 - 0 N - - MCF2L2 Thr902Ala T902A not reviewed Insufficiently evaluated not reviewed unknown Array rs6804951 9422 10758 0.875813 56 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MCF2L2 Phe772Leu F772L not reviewed Insufficiently evaluated not reviewed unknown Array rs9826325 250 10758 0.0232385 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - MCF2L2 Ser593Asn S593N not reviewed Insufficiently evaluated not reviewed unknown Array rs61731401 288 10758 0.0267708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCF2L2 Asn414Asp N414D not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - MCF2L2 Gln378Leu Q378L not reviewed Insufficiently evaluated not reviewed unknown Array rs2293203 822 10758 0.0764083 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 1 N - - MCF2L2 Ile359Leu I359L not reviewed Insufficiently evaluated not reviewed unknown Array rs7639705 2885 10758 0.268173 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MCF2L2 Thr159Met T159M not reviewed Insufficiently evaluated not reviewed unknown Array rs12632177 428 10758 0.0397843 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCFD2 Ala139Val A139V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y - 2 - 3 N - - MCHR1 Asn32Asp N32D not reviewed Insufficiently evaluated not reviewed unknown Array rs133072 7053 10758 0.655605 47 0 71 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MCHR1 Gly103Arg G103R not reviewed Insufficiently evaluated not reviewed unknown Array rs11914085 452 10758 0.0420152 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCHR1 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45439291 32 10758 0.00297453 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.757 - - 0 - 1 N - - MCHR2 Arg152Gln R152Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62434070 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 0 - 2 N - - MCL1 Thr196Ala T196A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCL1 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - MCM10 Lys134Arg K134R not reviewed Insufficiently evaluated not reviewed unknown Array rs17152897 466 10758 0.0433166 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - MCM10 Ala194Pro A194P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCM10 Ala195Pro A195P not reviewed Insufficiently evaluated not reviewed unknown Array rs34630110 998 10758 0.0927682 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - MCM10 Thr540Ser T540S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MCM10 Thr541Ser T541S not reviewed Insufficiently evaluated not reviewed unknown Array rs7905784 1363 10758 0.126696 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MCM10 Arg608Trp R608W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCM10 Arg609Trp R609W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - MCM10 Arg629Gln R629Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCM10 Arg630Gln R630Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MCM10 Lys668Arg K668R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MCM10 Lys669Arg K669R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274110 1443 10758 0.134133 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.56 - - -3 - 0 N - - MCM2 Asp68Glu D68E not reviewed Insufficiently evaluated not reviewed unknown Array rs3087452 148 10758 0.0137572 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - MCM2 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array rs3087450 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 1 - 4 - - MCM3 Glu777Lys E777K not reviewed Insufficiently evaluated not reviewed unknown Array rs2230240 1973 10758 0.183398 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MCM3 Gly437Val G437V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MCM3AP Asp1449Glu D1449E not reviewed Insufficiently evaluated not reviewed unknown Array rs17183220 537 10758 0.0499163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - MCM3AP Val1062Met V1062M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MCM3AP Ser102Leu S102L not reviewed Insufficiently evaluated not reviewed unknown Array rs9975588 3566 10758 0.331474 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 1 N - - MCM4 Arg422Trp R422W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - MCM4 Leu650Met L650M not reviewed Insufficiently evaluated not reviewed unknown Array rs762679 9407 10758 0.874419 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MCM5 Gln645Pro Q645P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.826 - - 4 Y 1 N - - MCM7 Ala296Gly A296G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCM7 Ala472Gly A472G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - MCM7 Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCM7 Ile394Thr I394T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 3 - 1 N - - MCM7 Asn144Ser N144S not reviewed Insufficiently evaluated not reviewed unknown Array rs2070215 2245 10758 0.208682 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MCM7 Glu90Lys E90K not reviewed Insufficiently evaluated not reviewed unknown Array rs73395957 46 10758 0.00427589 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.09 - - 0 - 0 N - - MCM8 Gln63Lys Q63K not reviewed Insufficiently evaluated not reviewed unknown Array rs236110 2489 10758 0.231363 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.212 - - -2 - 0 N - - MCM8 Ala98Pro A98P not reviewed Insufficiently evaluated not reviewed unknown Array 51 10754 0.00474242 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - MCM8 Cys155Tyr C155Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58487183 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MCM8 Asn183Ser N183S not reviewed Insufficiently evaluated not reviewed unknown Array rs16991591 308 10758 0.0286299 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCM8 Ala276Pro A276P not reviewed Insufficiently evaluated not reviewed unknown Array rs61752028 46 10758 0.00427589 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCM8 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array rs35028990 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MCM8 Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array rs16991615 534 10758 0.0496375 4 0 4 0 0 - - - - - - - - - - - - - - Y - 0.028 - - 0 - 2 N 7 - - MCM8 Ser349Asn S349N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCM8 Ser365Asn S365N not reviewed Insufficiently evaluated not reviewed unknown Array rs28403619 46 10758 0.00427589 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCOLN1 Thr261Met T261M not reviewed Insufficiently evaluated not reviewed unknown Array rs73003348 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.06 Y Y 2 - 2 N - - MCOLN2 Met365Val M365V not reviewed Insufficiently evaluated not reviewed unknown Array rs17117841 365 10758 0.0339282 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCOLN2 Ala287Gly A287G not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCOLN3 Leu235Val L235V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - MCPH1 Arg171Ser R171S not reviewed Insufficiently evaluated not reviewed unknown Array rs2442513 8951 9686 0.924117 54 0 99 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 - 1 - - MCPH1 Ala212Thr A212T not reviewed Insufficiently evaluated not reviewed unknown Array rs2922828 132 9588 0.0137672 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.941 - Y 1 - 3 N - - MCPH1 Ile216Thr I216T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9558 0.000209248 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.986 - Y 3 - 3 N - - MCPH1 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs34121009 388 9678 0.0400909 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - MCPH1 Pro288His P288H not reviewed Insufficiently evaluated not reviewed unknown Array rs35590577 609 9524 0.0639437 8 0 8 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 5 Y 3 - 1 - - MCPH1 Asp314His D314H not reviewed Insufficiently evaluated not reviewed unknown Array rs930557 6589 9682 0.680541 48 0 70 0 0 - - - - - - - - - - - - Y - - - 0.136 - Y 3 - 2 - 1 - - MCPH1 Asp392Gly D392G not reviewed Insufficiently evaluated not reviewed unknown Array rs2515569 10043 10116 0.992784 56 0 111 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 - 1 - - MCPH1 Lys450Thr K450T not reviewed Insufficiently evaluated not reviewed unknown Array 16 9716 0.00164677 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.799 - Y 3 - 2 N - - MCPH1 Thr682Asn T682N not reviewed Insufficiently evaluated not reviewed unknown Array rs12674488 1313 10028 0.130933 15 0 15 0 0 - - - - - - - - - - - - Y - - - 0.993 - Y 1 - 2 N - - MCPH1 Ala761Val A761V not reviewed Insufficiently evaluated not reviewed unknown Array rs1057090 4256 10436 0.407819 42 0 58 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 1 N - - MCPH1 Ser801Gly S801G not reviewed Insufficiently evaluated not reviewed unknown Array rs45540031 20 10330 0.00193611 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.746 - Y 2 - 2 N - - MCPH1 Gly802Arg G802R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10304 0.000194099 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - MCPH1 Pro828Ser P828S not reviewed Insufficiently evaluated not reviewed unknown Array rs1057091 2598 9946 0.261211 26 0 32 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 1 N - - MCTP1 Arg391Lys R391K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MCTP1 Arg612Lys R612K not reviewed Insufficiently evaluated not reviewed unknown Array rs9885412 1184 10758 0.110058 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.426 - - -3 - 0 N - - MCTP2 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61737195 1072 10758 0.0996468 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 1 N - - MCTP2 Arg285Leu R285L not reviewed Insufficiently evaluated not reviewed unknown Array rs7178698 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCTP2 Leu809Pro L809P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCTP2 Leu864Pro L864P not reviewed Insufficiently evaluated not reviewed unknown Array rs35055745 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MDC1 Arg1883Gln R1883Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28994875 104 7524 0.0138224 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 3 - 2 - - MDC1 Ala1734Thr A1734T not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDC1 Thr1664Ser T1664S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - MDC1 Gln1545Arg Q1545R not reviewed Insufficiently evaluated not reviewed unknown Array rs17292678 476 10758 0.0442461 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.272 - - 0 - 1 N - - MDC1 Ser1540Pro S1540P not reviewed Insufficiently evaluated not reviewed unknown Array rs3130645 1476 10758 0.1372 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - MDC1 Val1524Leu V1524L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.583 - - 0 - 1 N - - MDC1 Glu1509Asp E1509D not reviewed Insufficiently evaluated not reviewed unknown Array rs3132589 514 10758 0.0477784 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 0 N - - MDC1 Met1316Thr M1316T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733213 491 10758 0.0456405 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MDC1 Pro1283Thr P1283T not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.766 - - 4 Y 1 N - - MDC1 Ser1180Pro S1180P not reviewed Insufficiently evaluated not reviewed unknown Array rs9461623 535 10758 0.0497304 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.212 - - 3 - 1 N - - MDC1 Arg1079Cys R1079C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - MDC1 Arg917Ser R917S not reviewed Insufficiently evaluated not reviewed unknown Array rs28986467 308 7520 0.0409574 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.226 - - 3 - 1 N - - MDC1 Glu717Asp E717D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - MDC1 Ile536Met I536M not reviewed Insufficiently evaluated not reviewed unknown Array rs58344693 103 7522 0.0136932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - MDC1 Pro386Leu P386L not reviewed Insufficiently evaluated not reviewed unknown Array rs28986465 415 7522 0.0551715 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - MDC1 Glu371Lys E371K not reviewed Insufficiently evaluated not reviewed unknown Array rs2075015 411 7520 0.0546543 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - MDC1 Arg268Lys R268K not reviewed Insufficiently evaluated not reviewed unknown Array rs9262152 795 7524 0.105662 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - MDC1 Arg179Cys R179C not reviewed Insufficiently evaluated not reviewed unknown Array rs28986464 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - MDC1 Leu122Val L122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - MDFIC Phe353Leu F353L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDGA1 Leu61Pro L61P not reviewed Insufficiently evaluated not reviewed unknown Array rs10947690 1764 10436 0.16903 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.863 - - 7 Y 1 N - - MDGA2 Val379Phe V379F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MDGA2 Val608Phe V608F not reviewed Insufficiently evaluated not reviewed unknown Array rs12590500 902 9636 0.0936073 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - MDGA2 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MDGA2 Met230Thr M230T not reviewed Insufficiently evaluated not reviewed unknown Array rs73248044 177 9632 0.0183762 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - MDH1B Thr515Ala T515A not reviewed Insufficiently evaluated not reviewed unknown Array rs2287632 1235 10742 0.114969 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - MDH1B Glu510Asp E510D not reviewed Insufficiently evaluated not reviewed unknown Array rs2287631 2902 10746 0.270054 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MDH1B Arg329Lys R329K not reviewed Insufficiently evaluated not reviewed unknown Array rs61744963 357 10756 0.0331908 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MDH2 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array rs17849553 3937 9874 0.398724 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MDH2 Lys301Arg K301R not reviewed Insufficiently evaluated not reviewed unknown Array 397 10758 0.0369028 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - MDK Arg57Leu R57L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 3 - 3 - - MDM1 Pro552Leu P552L not reviewed Insufficiently evaluated not reviewed unknown Array rs2306392 2637 10758 0.24512 23 0 30 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - MDM1 Leu513Arg L513R not reviewed Insufficiently evaluated not reviewed unknown Array rs73334528 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - MDM1 Arg489His R489H not reviewed Insufficiently evaluated not reviewed unknown Array rs2306393 8156 10758 0.758133 52 0 80 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MDM1 Val383Ile V383I not reviewed Insufficiently evaluated not reviewed unknown Array rs17224810 1741 10758 0.161833 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MDM1 Thr103Ile T103I not reviewed Insufficiently evaluated not reviewed unknown Array rs962976 7953 10758 0.739264 52 0 78 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - MDM2 Leu119Val L119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - MDM2 Leu266Val L266V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - MDM2 Leu268Val L268V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDM2 Leu276Val L276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDM2 Leu321Val L321V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDM4 Lys280Asn K280N not reviewed Insufficiently evaluated not reviewed unknown Array rs61748997 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 1 - 1 N - - MDM4 Lys336Glu K336E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 2 - 2 - - MDN1 Ala5471Ser A5471S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MDN1 Asn5251Lys N5251K not reviewed Insufficiently evaluated not reviewed unknown Array rs4707557 1058 10758 0.0983454 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MDN1 Asp4783Glu D4783E not reviewed Insufficiently evaluated not reviewed unknown Array rs36040566 1137 10758 0.105689 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - MDN1 Ile4720Thr I4720T not reviewed Insufficiently evaluated not reviewed unknown Array rs16882046 309 10758 0.0287228 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 1 - 2 - - MDN1 Arg4266Gly R4266G not reviewed Insufficiently evaluated not reviewed unknown Array rs41273327 274 10576 0.0259077 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - MDN1 Ala4167Thr A4167T not reviewed Insufficiently evaluated not reviewed unknown Array rs35509794 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 1 - 1 - - MDN1 Ala4044Ser A4044S not reviewed Insufficiently evaluated not reviewed unknown Array rs9353689 5664 10758 0.526492 42 0 62 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - MDN1 Ala3794Gly A3794G not reviewed Insufficiently evaluated not reviewed unknown Array rs34766278 1259 10758 0.117029 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.177 - - 1 - 0 N - - MDN1 His3423Tyr H3423Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9294445 5523 10758 0.513385 41 0 61 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 1 N - - MDN1 Glu3004Lys E3004K not reviewed Insufficiently evaluated not reviewed unknown Array rs12530146 842 10758 0.0782673 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - MDN1 Lys2772Arg K2772R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - MDN1 Arg2455Gln R2455Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - MDN1 Ile1586Val I1586V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - MDN1 Ser1559Asn S1559N not reviewed Insufficiently evaluated not reviewed unknown Array rs4140446 8817 10758 0.819576 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MDN1 Met1374Thr M1374T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - MDN1 Gly1040Cys G1040C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - MDN1 Ile660Val I660V not reviewed Insufficiently evaluated not reviewed unknown Array rs12110451 1970 10758 0.18312 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.057 - - -4 - 0 N - - MDN1 Phe440Val F440V not reviewed Insufficiently evaluated not reviewed unknown Array rs4707569 1855 10758 0.17243 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.045 - - 3 - 0 N - - MDN1 Gly287Ser G287S not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MDS1 Pro120Ser P120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ME2 Asn321His N321H not reviewed Insufficiently evaluated not reviewed unknown Array rs59409558 91 10752 0.00846354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - ME2 Gly450Glu G450E not reviewed Insufficiently evaluated not reviewed unknown Array rs649224 1602 10758 0.148912 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ME3 Lys324Asn K324N not reviewed Insufficiently evaluated not reviewed unknown Array rs1042780 3259 10758 0.302937 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ME3 Thr308Pro T308P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - MECP2 Glu397Lys E397K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - MECP2 Glu409Lys E409K not reviewed Insufficiently evaluated not reviewed unknown Array rs56268439 26 8682 0.0029947 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MECR Thr296Ala T296A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - MECR Thr372Ala T372A not reviewed Insufficiently evaluated not reviewed unknown Array rs60891833 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 1 - 1 - 1 - - MECR Phe20Leu F20L not reviewed Insufficiently evaluated not reviewed unknown Array rs1128400 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MECR Phe96Leu F96L not reviewed Insufficiently evaluated not reviewed unknown Array rs1128400 9167 10758 0.85211 50 0 86 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MED12L Gln401Pro Q401P not reviewed Insufficiently evaluated not reviewed unknown Array rs17290219 1072 10758 0.0996468 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - MED12L Asp610Tyr D610Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34501514 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - MED12L Arg1210Gln R1210Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3732765 2939 10758 0.273192 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - MED12L Arg1698Gln R1698Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 2 - - MED15 Pro567His P567H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MED15 Pro567Leu P567L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MED15 Pro607His P607H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - MED15 Pro607Leu P607L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MED15 Ala587Asp A587D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MED15 Ala627Asp A627D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - MED16 Glu874Lys E874K not reviewed Insufficiently evaluated not reviewed unknown Array rs13090 3456 10734 0.321968 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - MED16 His449Gln H449Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - MED16 Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - MED17 Glu69Asp E69D not reviewed Insufficiently evaluated not reviewed unknown Array rs2848477 5589 10132 0.551619 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MED17 Ile497Met I497M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MED23 Asn1280Asp N1280D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.433 - - -1 - 1 N - - MED23 Asn1286Asp N1286D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MED23 Thr695Ile T695I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.865 - - 3 - 2 N - - MED23 Thr701Ile T701I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MED25 Leu691Val L691V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - MED25 Leu691Ser L691S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 6 Y 1 N - - MED26 Ala379Gly A379G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - MED26 Leu32Val L32V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - MED26 Ser7Ala S7A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - -1 - 1 N - - MED30 Thr3Pro T3P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - 4 Y 1 N - - MED4 Glu12Gln E12Q not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MED9 Ala55Ser A55S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739282 238 10756 0.0221272 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.55 - - -1 - 1 N - - MEF2D Gly476Val G476V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10752 0.0014881 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - MEF2D Ser444Ala S444A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - -1 - 2 - 4 - - MEFV Arg408Gln R408Q pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs11466024 54 10758 0.00501952 4 0 4 2 2 1 Y - - 0 Y 0 Y 3 - 4 Y Y Y - - 0.993 Y Y 0 - Familial Mediterranean Fever 1 2 55 459 4.173 6 N 9 0 0 This variant is associated with Familial Mediterranean Fever, it has generally been reported in cis with other variants. Sugiura et al. conclude that this variant may be weakly involved with the disease. MEFV Pro369Ser P369S pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs11466023 55 10758 0.00511247 3 0 3 2 2 1 Y - - 0 Y 0 - 3 - 4 Y Y Y - - 0.995 Y Y 3 - Familial Mediterranean Fever 5 177 59 1187 0.568 6 N 10 0 0 Weak evidence associating this with familial mediterranean fever, but there is a fairly high frequency of this allele. This variant might cause increased susceptibility to the disease but there is not enough evidence to be significant. MEFV Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MEFV Arg202Gln R202Q pathogenic Insufficiently evaluated pathogenic recessive Array rs224222 1844 10364 0.177924 10 0 12 4 4 1 Y - - 2 Y 0 Y 1 Y 4 Y Y - - - 0.019 Y Y 0 - Familial Mediterranean Fever 33 248 83 1038 1.664 3 - 10 - - This variant may increase susceptibility to Familial Mediterranean Fever. MEFV Glu148Gln E148Q pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs3743930 127 10502 0.0120929 4 0 4 5 5 1 Y - - 0 Y ! - 3 Y 2 Y Y Y - - 0.852 Y Y -2 - Familial Mediterranean Fever 58 766 163 2639 1.226 6 N 10 1 0 Some reports believe this cause Familial Mediterranean Fever in a recessive manner with reduced penetrance (i.e. not all get the disease). However, these reports lack strong statistical significance; other studies argue the variant is not associated with the disease. MEGF10 Val206Ile V206I not reviewed Insufficiently evaluated not reviewed unknown Array rs3812054 1138 10758 0.105782 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MEGF10 Ala1062Pro A1062P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - MEGF10 Arg1072Lys R1072K not reviewed Insufficiently evaluated not reviewed unknown Array rs17164935 1509 10758 0.140268 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MEGF11 His317Arg H317R not reviewed Insufficiently evaluated not reviewed unknown Array rs333550 10607 10732 0.988353 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MEGF11 Ser95Asn S95N not reviewed Insufficiently evaluated not reviewed unknown Array rs16949528 1070 3234 0.33086 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MEGF6 Ala1483Thr A1483T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746548 466 10248 0.0454723 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - MEGF6 Gly1438Arg G1438R not reviewed Insufficiently evaluated not reviewed unknown Array rs61910697 176 10036 0.0175369 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - MEGF6 His1413Tyr H1413Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746168 1231 9844 0.125051 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - MEGF6 Trp1392Arg W1392R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742508 1257 10042 0.125174 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - MEGF6 Arg1364His R1364H not reviewed Insufficiently evaluated not reviewed unknown Array rs12075570 498 9692 0.0513826 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - MEGF6 Gly1137Ala G1137A not reviewed Insufficiently evaluated not reviewed unknown Array rs4648506 2218 10200 0.217451 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.292 - - 1 - 0 N - - MEGF6 Cys962Ser C962S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MEGF6 Arg916Leu R916L not reviewed Insufficiently evaluated not reviewed unknown Array rs7553399 6296 9914 0.635062 44 0 55 0 0 - - - - - - - - - - - - - - - - 0.114 - - 6 Y 0 N - - MEGF6 Pro898Leu P898L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742846 243 10384 0.0234014 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.039 - - 7 Y 0 N - - MEGF6 Ala877Thr A877T not reviewed Insufficiently evaluated not reviewed unknown Array rs56955077 2 10488 0.000190694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEGF6 Val809Ile V809I not reviewed Insufficiently evaluated not reviewed unknown Array rs61978585 51 10238 0.00498144 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MEGF6 Leu688Pro L688P not reviewed Insufficiently evaluated not reviewed unknown Array rs2821008 2214 10140 0.218343 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MEGF6 Pro587Leu P587L not reviewed Insufficiently evaluated not reviewed unknown Array rs947345 646 10126 0.0637962 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - MEGF6 Arg322Trp R322W not reviewed Insufficiently evaluated not reviewed unknown Array rs57542881 2 10346 0.000193311 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MEGF6 Ala313Val A313V not reviewed Insufficiently evaluated not reviewed unknown Array rs11585362 2097 10412 0.201402 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.389 - - 2 - 0 N - - MEGF6 Gly239Ser G239S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10264 0.000292283 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 2 - 2 N - - MEGF6 Ser131Gly S131G not reviewed Insufficiently evaluated not reviewed unknown Array rs2794340 8894 9814 0.906256 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MEGF6 Met115Thr M115T not reviewed Insufficiently evaluated not reviewed unknown Array rs7513275 1550 10026 0.154598 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MEGF8 Arg537Cys R537C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MEGF8 Lys1691Glu K1691E not reviewed Insufficiently evaluated not reviewed unknown Array rs1206038 920 10758 0.0855178 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MEGF8 Val2285Met V2285M not reviewed Insufficiently evaluated not reviewed unknown Array 195 10750 0.0181395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEGF9 Gly31Arg G31R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEI1 Gly768Asp G768D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737623 173 9884 0.017503 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MEIG1 Lys9Thr K9T not reviewed Insufficiently evaluated not reviewed unknown Array rs4750568 7031 10758 0.65356 43 0 62 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 1 N - - MELK Lys26Arg K26R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - -3 - 2 N - - MELK Thr348Ile T348I not reviewed Insufficiently evaluated not reviewed unknown Array rs55845414 146 10758 0.0135713 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 2 - 2 - - MELK Val540Ala V540A not reviewed Insufficiently evaluated not reviewed unknown Array rs62637654 53 10758 0.00492657 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MEMO1 Cys256Tyr C256Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEMO1 Cys279Tyr C279Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MEN1 Thr541Ala T541A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - MEN1 Thr546Ala T546A not reviewed Insufficiently evaluated not reviewed unknown Array rs2959656 9765 10758 0.907697 51 0 89 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - MEOX1 Ser27Leu S27L not reviewed Insufficiently evaluated not reviewed unknown Array rs9898682 1782 10618 0.167828 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.028 - - 6 Y 0 N - - MEOX1 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 73 10436 0.00699502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MEOX2 Ile287Leu I287L not reviewed Insufficiently evaluated not reviewed unknown Array rs2237493 336 10758 0.0312326 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MEP1A Val469Leu V469L not reviewed Insufficiently evaluated not reviewed unknown Array rs2274658 4703 10758 0.437163 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MEP1A Arg476Gly R476G not reviewed Insufficiently evaluated not reviewed unknown Array rs12197930 511 10758 0.0474995 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEP1A Arg518Gln R518Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62622418 381 10758 0.0354155 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEP1A Thr606Ser T606S not reviewed Insufficiently evaluated not reviewed unknown Array rs2297020 3197 10750 0.297395 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MEP1A Met634Val M634V not reviewed Insufficiently evaluated not reviewed unknown Array rs2297019 3391 10758 0.315207 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MEP1A Thr726Met T726M not reviewed Insufficiently evaluated not reviewed unknown Array rs1804211 2993 10758 0.278212 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MEP1B Ile116Met I116M not reviewed Insufficiently evaluated not reviewed unknown Array 123 9762 0.0125999 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - -1 - 2 N - - MEP1B Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10288 0.000291601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - MEP1B Ser546Pro S546P not reviewed Insufficiently evaluated not reviewed unknown Array rs233223 7157 9548 0.749581 44 0 74 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MEP1B Pro695Leu P695L not reviewed Insufficiently evaluated not reviewed unknown Array rs616114 3839 9842 0.390063 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MEPCE Gly27Glu G27E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - MEPCE Ser671Phe S671F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - MEPE Val330Ile V330I not reviewed Insufficiently evaluated not reviewed unknown Array rs17013285 1424 10758 0.132367 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 0 N - - MEPE Asn461Thr N461T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 1 - 1 N - - MERTK Ala282Thr A282T not reviewed Insufficiently evaluated not reviewed unknown Array rs7588635 520 10758 0.0483361 7 0 9 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 1 - 1 N - - MERTK Arg466Lys R466K not reviewed Insufficiently evaluated not reviewed unknown Array rs7604639 6836 10758 0.635434 43 0 65 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 3 - - MERTK Ile518Val I518V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230515 6835 10758 0.635341 44 0 67 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 5 - - MERTK Gln805His Q805H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.395 Y - -1 - 2 N - - MERTK Val870Ile V870I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230517 969 10758 0.0900725 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - MESDC1 Ser245Cys S245C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - MESDC2 Ser4Phe S4F not reviewed Insufficiently evaluated not reviewed unknown Array 56 10558 0.00530403 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - MESP1 Phe223Leu F223L not reviewed Insufficiently evaluated not reviewed unknown Array rs2305440 1472 7770 0.189447 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - 0 - 0 N - - MESP1 Glu104Ala E104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 3 - 1 N - - MESP1 Leu61Arg L61R not reviewed Insufficiently evaluated not reviewed unknown Array 291 4652 0.0625537 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MESP1 Ala53Pro A53P not reviewed Insufficiently evaluated not reviewed unknown Array rs6496598 3427 5238 0.654257 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MESP2 His102Gln H102Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.71 Y Y -1 - 3 N - - MESP2 Val138Met V138M not reviewed Insufficiently evaluated not reviewed unknown Array rs28462216 657 10302 0.063774 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - MET Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.96 Y - 2 - 4 - 10 - - METRN Arg274Cys R274C not reviewed Insufficiently evaluated not reviewed unknown Array rs61391312 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.517 - - 8 Y 1 N - - METRNL Thr112Met T112M not reviewed Insufficiently evaluated not reviewed unknown Array rs62074705 424 10758 0.0394125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - METRNL Gln142Arg Q142R not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - METRNL Ala178Ser A178S not reviewed Insufficiently evaluated not reviewed unknown Array rs72854240 808 10754 0.0751348 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - METT10D Ser479Asn S479N not reviewed Insufficiently evaluated not reviewed unknown Array 565 9894 0.0571053 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - METT11D1 Gly289Ala G289A not reviewed Insufficiently evaluated not reviewed unknown Array rs2297717 121 10758 0.0112474 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - METT11D1 Phe444Leu F444L not reviewed Insufficiently evaluated not reviewed unknown Array rs11538171 387 10758 0.0359732 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - METT5D1 Asn31Lys N31K not reviewed Insufficiently evaluated not reviewed unknown Array rs11553132 4271 10592 0.403229 41 0 64 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - METTL10 Gly8Ser G8S not reviewed Insufficiently evaluated not reviewed unknown Array 1260 9728 0.129523 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - METTL11B Ser150Pro S150P not reviewed Insufficiently evaluated not reviewed unknown Array rs6427235 1044 3234 0.32282 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - METTL12 Arg33His R33H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - METTL12 Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array 22 10632 0.00206922 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - METTL12 Gly125Ser G125S not reviewed Insufficiently evaluated not reviewed unknown Array rs11231181 2360 10046 0.234919 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - METTL13 Met105Val M105V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232816 3097 10758 0.287879 33 0 38 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - METTL13 Met19Val M19V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232816 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - METTL13 Met203Ile M203I not reviewed Insufficiently evaluated not reviewed unknown Array rs2232819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - METTL13 Met273Ile M273I not reviewed Insufficiently evaluated not reviewed unknown Array rs2232819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - METTL13 Met359Ile M359I not reviewed Insufficiently evaluated not reviewed unknown Array rs2232819 1509 10758 0.140268 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 1 N - - METTL2A Leu155Pro L155P not reviewed Insufficiently evaluated not reviewed unknown Array rs2319055 8706 10024 0.868516 52 0 100 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - METTL2B Val68Ile V68I not reviewed Insufficiently evaluated not reviewed unknown Array rs2288557 632 10758 0.058747 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - METTL2B Val266Ile V266I not reviewed Insufficiently evaluated not reviewed unknown Array rs2562741 10428 10752 0.969866 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - METTL2B Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73232665 339 10758 0.0315114 3 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - METTL3 His216Pro H216P not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.554 - - 5 Y 1 N - - METTL4 Val468Leu V468L not reviewed Insufficiently evaluated not reviewed unknown Array rs8084295 10513 10758 0.977226 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - METTL4 Gln310Lys Q310K not reviewed Insufficiently evaluated not reviewed unknown Array rs2677879 7332 10758 0.681539 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - METTL4 Glu230Asp E230D not reviewed Insufficiently evaluated not reviewed unknown Array rs34143130 1153 10756 0.107196 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - METTL4 Leu163Phe L163F not reviewed Insufficiently evaluated not reviewed unknown Array rs12606220 1125 10758 0.104573 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - METTL7A Ala134Thr A134T not reviewed Insufficiently evaluated not reviewed unknown Array rs28372674 168 10758 0.0156163 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - METTL7B Pro101Leu P101L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - METTL7B Pro126His P126H not reviewed Insufficiently evaluated not reviewed unknown Array 395 10758 0.0367169 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 5 Y 0 N - - METTL8 Cys229Trp C229W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MFAP1 Ala124Ser A124S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MFAP3L Val42Phe V42F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - MFF Ser7Cys S7C not reviewed Insufficiently evaluated not reviewed unknown Array 2828 10758 0.262874 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - 3 - 0 N - - MFF Ser7Ile S7I not reviewed Insufficiently evaluated not reviewed unknown Array 2817 10758 0.261852 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - 5 Y 0 N - - MFF Met324Thr M324T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - MFF Tyr325Stop Y325X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - MFGE8 Phe158Leu F158L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MFGE8 Leu76Met L76M not reviewed Insufficiently evaluated not reviewed unknown Array rs1878326 7555 10758 0.702268 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MFGE8 Arg3Ser R3S not reviewed Insufficiently evaluated not reviewed unknown Array rs4945 1114 4290 0.259674 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MFHAS1 Leu892Pro L892P not reviewed Insufficiently evaluated not reviewed unknown Array rs429433 10259 10758 0.953616 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MFI2 Gln283Lys Q283K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MFN1 Pro523Arg P523R not reviewed Insufficiently evaluated not reviewed unknown Array rs7637065 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MFN2 Pro456Leu P456L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 7 Y 3 - 2 - - MFNG Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - MFRP Arg257His R257H not reviewed Insufficiently evaluated not reviewed unknown Array rs61736238 353 10752 0.0328311 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MFRP Val136Met V136M not reviewed Insufficiently evaluated not reviewed unknown Array rs3814762 2616 10758 0.243168 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MFRP Ile119Val I119V not reviewed Insufficiently evaluated not reviewed unknown Array rs4639950 193 10758 0.0179401 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MFSD1 Pro24Ser P24S not reviewed Insufficiently evaluated not reviewed unknown Array rs28364680 1234 10702 0.115306 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MFSD1 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array rs3765083 6497 10758 0.603923 42 0 58 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MFSD2 Ala182Pro A182P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFSD2 Ala195Pro A195P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFSD3 Arg188Trp R188W not reviewed Insufficiently evaluated not reviewed unknown Array 63 9788 0.00643645 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - MFSD3 Gly292Arg G292R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 3 - 3 - - MFSD3 Arg345Cys R345C not reviewed Insufficiently evaluated not reviewed unknown Array rs73377627 58 10748 0.00539635 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.864 - - 8 Y 2 N - - MFSD4 Gly314Ala G314A not reviewed Insufficiently evaluated not reviewed unknown Array rs7526132 5791 10758 0.538297 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MFSD6 Ile54Thr I54T not reviewed Insufficiently evaluated not reviewed unknown Array rs73050072 84 10758 0.00780814 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MFSD6 Arg205Gly R205G not reviewed Insufficiently evaluated not reviewed unknown Array rs9646748 4693 10758 0.436233 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MFSD6L Ser554Leu S554L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - MFSD6L Ser505Arg S505R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - MFSD6L Cys504Trp C504W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - MFSD6L Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array rs2242373 2045 10758 0.190091 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.913 - - 1 - 1 N - - MFSD6L Gly399Ser G399S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFSD6L Ile339Thr I339T not reviewed Insufficiently evaluated not reviewed unknown Array rs34184531 2135 10758 0.198457 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - MFSD6L Pro214Thr P214T not reviewed Insufficiently evaluated not reviewed unknown Array rs17854013 2145 10758 0.199387 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.251 - - 4 Y 0 N - - MFSD7 Ser434Arg S434R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10130 0.0041461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MFSD8 Ala423Val A423V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733319 778 10758 0.0723183 14 0 14 0 0 - - - - - - - - - - - - Y - - - 0.177 Y Y 2 - 2 N - - MFSD8 Val321Ile V321I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -4 - 2 N - - MFSD9 Pro441Ala P441A not reviewed Insufficiently evaluated not reviewed unknown Array rs34977505 228 10756 0.0211975 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - MFSD9 Ala376Thr A376T not reviewed Insufficiently evaluated not reviewed unknown Array rs34096572 217 10758 0.020171 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MFSD9 Ile288Thr I288T not reviewed Insufficiently evaluated not reviewed unknown Array rs33993717 671 10758 0.0623722 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.672 - - 3 - 0 N - - MFSD9 Gly188Val G188V not reviewed Insufficiently evaluated not reviewed unknown Array rs55839709 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MGA Thr716Ser T716S not reviewed Insufficiently evaluated not reviewed unknown Array rs2178004 7104 9544 0.744342 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MGA Ser1259Phe S1259F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 5 Y 2 N - - MGA Tyr1453Cys Y1453C not reviewed Insufficiently evaluated not reviewed unknown Array 111 9780 0.0113497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 1 - - MGA Pro1572Ala P1572A not reviewed Insufficiently evaluated not reviewed unknown Array rs17677991 30 126 0.238095 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - MGA Val3070Ala V3070A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MGAM Ser542Leu S542L not reviewed Insufficiently evaluated not reviewed unknown Array rs10266732 752 9568 0.0785953 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.465 - - 6 Y 0 N - - MGAM Asn858Asp N858D not reviewed Insufficiently evaluated not reviewed unknown Array rs2960746 9816 9892 0.992317 48 0 96 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MGAM Leu1638Ile L1638I not reviewed Insufficiently evaluated not reviewed unknown Array rs9655651 97 9954 0.00974483 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 3 - 3 - - MGAT1 Leu435Pro L435P not reviewed Insufficiently evaluated not reviewed unknown Array rs634501 8260 10758 0.767801 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MGAT1 Arg223Gln R223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7726005 1295 10726 0.120735 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MGAT2 Thr324Ser T324S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -2 - 2 N - - MGAT4A Gly226Stop G226X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MGAT4A Gly98Stop G98X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MGAT4B Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MGAT4B Lys74Arg K74R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MGAT4B Thr27Ile T27I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MGAT4C Thr428Ser T428S not reviewed Insufficiently evaluated not reviewed unknown Array rs17855890 826 10756 0.0767943 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MGAT4C Thr375Ala T375A not reviewed Insufficiently evaluated not reviewed unknown Array rs34889924 23 10754 0.00213874 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - MGAT5B Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array rs571264 3094 10748 0.287868 31 0 40 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - MGAT5B Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MGC16385 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGC24975 Pro246Leu P246L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC24975 Pro248Leu P248L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC24975 Gln213Leu Q213L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MGC24975 Gln215Leu Q215L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MGC24975 Pro186Ala P186A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MGC24975 Pro188Ala P188A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MGC24975 Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC24975 Pro118Leu P118L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC24975 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC26647 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MGC26647 Asp48His D48H not reviewed Insufficiently evaluated not reviewed unknown Array rs2373396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGC70857 Thr10Ile T10I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGMT Leu115Phe L115F not reviewed Insufficiently evaluated not reviewed unknown Array rs12917 1455 10758 0.135248 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MGMT Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array 978 10756 0.090926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MGMT Lys209Arg K209R not reviewed Insufficiently evaluated not reviewed unknown Array 983 10758 0.0913739 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MGP Thr102Ala T102A not reviewed Insufficiently evaluated not reviewed unknown Array rs4236 4662 10758 0.433352 41 0 57 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MGP Val15Leu V15L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 1 - 2 - - MIA2 Ile141Met I141M not reviewed Insufficiently evaluated not reviewed unknown Array rs11845046 2094 10720 0.195336 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MIA2 Pro337Ser P337S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MIA2 Ser344Pro S344P not reviewed Insufficiently evaluated not reviewed unknown Array rs3825549 665 10758 0.0618145 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MIA2 Asp547His D547H not reviewed Insufficiently evaluated not reviewed unknown Array rs10134365 2977 10756 0.276776 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MIA3 Lys482Glu K482E not reviewed Insufficiently evaluated not reviewed unknown Array rs2936053 9679 9748 0.992922 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MIA3 Ala599Thr A599T not reviewed Insufficiently evaluated not reviewed unknown Array rs74145517 128 10148 0.0126133 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MIA3 Lys605Arg K605R not reviewed Insufficiently evaluated not reviewed unknown Array rs2936052 2107 10126 0.208078 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.051 - - -3 - 0 N - - MIA3 Glu881Gly E881G not reviewed Insufficiently evaluated not reviewed unknown Array rs2936051 2084 9832 0.211961 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 1 N - - MIA3 Glu1549Ala E1549A not reviewed Insufficiently evaluated not reviewed unknown Array 15 9810 0.00152905 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - MIB2 Phe15Leu F15L not reviewed Insufficiently evaluated not reviewed unknown Array rs7418389 6550 9762 0.670969 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MIB2 Met45Thr M45T not reviewed Insufficiently evaluated not reviewed unknown Array rs12755088 8535 9650 0.884456 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MIB2 Arg403Gln R403Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74047808 56 10240 0.00546875 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - MIB2 Ala582Val A582V not reviewed Insufficiently evaluated not reviewed unknown Array 126 10272 0.0122664 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MIB2 Ala584Thr A584T not reviewed Insufficiently evaluated not reviewed unknown Array 121 10356 0.011684 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MICA Trp37Gly W37G not reviewed Insufficiently evaluated not reviewed unknown Array rs1063630 648 3226 0.200868 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MICA Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array rs1063631 135 3234 0.041744 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MICA Tyr59Cys Y59C not reviewed Insufficiently evaluated not reviewed unknown Array rs1051786 1016 3234 0.314162 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MICA Leu145Val L145V not reviewed Insufficiently evaluated not reviewed unknown Array rs1051790 562 3234 0.173779 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MICA Val152Met V152M not reviewed Insufficiently evaluated not reviewed unknown Array rs1051792 1016 3234 0.314162 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MICA His179Leu H179L not reviewed Insufficiently evaluated not reviewed unknown Array rs3819268 79 3234 0.024428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - MICA Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array rs1051794 1016 3234 0.314162 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MICA Gly198Ser G198S not reviewed Insufficiently evaluated not reviewed unknown Array rs1131896 834 3234 0.257885 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MICA Val199Ile V199I not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - MICA Thr204Arg T204R not reviewed Insufficiently evaluated not reviewed unknown Array rs1131897 344 3234 0.10637 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MICA Ile236Thr I236T not reviewed Insufficiently evaluated not reviewed unknown Array rs1140700 1504 3228 0.465923 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MICA Arg274Gln R274Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1063635 1547 3234 0.478355 40 0 55 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - MICA Gly318Ala G318A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MICA Cys329Arg C329R not reviewed Insufficiently evaluated not reviewed unknown Array rs41554412 511 3234 0.158009 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MICA Pro347Thr P347T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MICA Ser374Arg S374R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MICA His384Arg H384R not reviewed Insufficiently evaluated not reviewed unknown Array rs1882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MICAL1 Ala672Glu A672E not reviewed Insufficiently evaluated not reviewed unknown Array rs35260632 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MICAL1 Ala758Glu A758E not reviewed Insufficiently evaluated not reviewed unknown Array rs9320288 5185 10758 0.481967 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MICAL1 Ala672Thr A672T not reviewed Insufficiently evaluated not reviewed unknown Array rs59056467 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MICAL1 Ala758Thr A758T not reviewed Insufficiently evaluated not reviewed unknown Array rs59056467 2433 10758 0.226157 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MICAL1 Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array rs4946977 869 10752 0.0808222 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MICAL2 Leu41Val L41V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - MICAL2 Tyr636Cys Y636C not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 6 Y 2 N - - MICAL2 Arg695Cys R695C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.128 - - 8 Y 0 N - - MICAL2 Arg1014Gln R1014Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MICAL2 Glu1077Lys E1077K not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.502 - - 0 - 1 N - - MICAL2 Arg1089Gln R1089Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2270515 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.944 - - 0 - 3 - 5 - - MICAL3 Pro1551Leu P1551L not reviewed Insufficiently evaluated not reviewed unknown Array 456 10004 0.0455818 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICAL3 Pro1286Leu P1286L not reviewed Insufficiently evaluated not reviewed unknown Array 91 9838 0.00924985 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICAL3 Thr1276Ile T1276I not reviewed Insufficiently evaluated not reviewed unknown Array 10 9878 0.00101235 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MICAL3 Gln1245Arg Q1245R not reviewed Insufficiently evaluated not reviewed unknown Array rs8135914 3242 9870 0.32847 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MICAL3 Arg1118His R1118H not reviewed Insufficiently evaluated not reviewed unknown Array 861 10490 0.0820782 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MICAL3 Asp1075Asn D1075N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10138 0.000887749 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MICAL3 Ala1055Val A1055V not reviewed Insufficiently evaluated not reviewed unknown Array 718 9996 0.0718287 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MICAL3 Met750Leu M750L not reviewed Insufficiently evaluated not reviewed unknown Array rs5992128 209 7812 0.0267537 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MICAL3 Met874Leu M874L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MICAL3 Pro11Ala P11A not reviewed Insufficiently evaluated not reviewed unknown Array rs11913706 640 7820 0.0818414 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - MICALCL Pro41Leu P41L not reviewed Insufficiently evaluated not reviewed unknown Array 160 9868 0.016214 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - MICALCL Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array rs10741578 4203 9856 0.426441 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MICALCL Tyr93Ser Y93S not reviewed Insufficiently evaluated not reviewed unknown Array rs12574273 217 10054 0.0215834 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - MICALCL Ala305Thr A305T not reviewed Insufficiently evaluated not reviewed unknown Array rs1493953 9181 9926 0.924945 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MICALCL Ser313Gly S313G not reviewed Insufficiently evaluated not reviewed unknown Array rs1493954 4007 9908 0.404421 42 0 56 0 0 - - - - - - - - - - - - - - - - 0.923 - - 2 - 1 N - - MICALCL Gly323Arg G323R not reviewed Insufficiently evaluated not reviewed unknown Array 22 9914 0.00221908 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MICALCL Asp369Glu D369E not reviewed Insufficiently evaluated not reviewed unknown Array rs3812753 505 9958 0.050713 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.813 - - -2 - 0 N - - MICALCL Thr471Pro T471P not reviewed Insufficiently evaluated not reviewed unknown Array rs3812754 3343 8296 0.402965 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.331 - - 4 Y 0 N - - MICALL1 Phe60Leu F60L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - MICALL1 Ala519Ser A519S not reviewed Insufficiently evaluated not reviewed unknown Array rs9610875 1921 10758 0.178565 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MICALL1 Pro583Leu P583L not reviewed Insufficiently evaluated not reviewed unknown Array rs2272829 543 10758 0.0504741 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.422 - - 7 Y 0 N - - MICALL1 Val657Leu V657L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - MICALL2 Pro896Leu P896L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736384 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICALL2 Arg663His R663H not reviewed Insufficiently evaluated not reviewed unknown Array rs4580937 1024 10718 0.0955402 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.749 - - 1 - 0 N - - MICALL2 Ala629Ser A629S not reviewed Insufficiently evaluated not reviewed unknown Array 297 10738 0.0276588 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - MICALL2 Lys623Arg K623R not reviewed Insufficiently evaluated not reviewed unknown Array rs61287564 1005 10744 0.0935406 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 0 N - - MICALL2 Ala480Pro A480P not reviewed Insufficiently evaluated not reviewed unknown Array rs12540098 2044 10758 0.189998 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MICALL2 Pro474Ser P474S not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - MICALL2 Thr430Ala T430A not reviewed Insufficiently evaluated not reviewed unknown Array rs61747084 753 10654 0.0706777 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.064 - - 1 - 0 N - - MICALL2 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 1006 10622 0.0947091 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MICB Arg64Cys R64C not reviewed Insufficiently evaluated not reviewed unknown Array 2 6730 0.000297176 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MICB Asn75Asp N75D not reviewed Insufficiently evaluated not reviewed unknown Array rs3131639 5462 6714 0.813524 56 0 94 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MICB Lys80Glu K80E not reviewed Insufficiently evaluated not reviewed unknown Array rs1065075 2225 6742 0.330021 31 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MICB Ile121Met I121M not reviewed Insufficiently evaluated not reviewed unknown Array rs3134900 1174 9844 0.11926 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MICB Asp136Asn D136N not reviewed Insufficiently evaluated not reviewed unknown Array rs1051788 3169 9766 0.324493 31 0 33 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MICB Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - MICB Thr238Ser T238S not reviewed Insufficiently evaluated not reviewed unknown Array 2 7088 0.000282167 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MICB Thr383Ala T383A not reviewed Insufficiently evaluated not reviewed unknown Array rs1065076 5278 6706 0.787056 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MID2 Ala378Asp A378D not reviewed Insufficiently evaluated not reviewed unknown Array 335 8758 0.0382507 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - MIER2 Ser485Gly S485G not reviewed Insufficiently evaluated not reviewed unknown Array rs35042658 451 10746 0.0419691 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - MIER3 Asn529Ser N529S not reviewed Insufficiently evaluated not reviewed unknown Array rs36017815 688 10758 0.0639524 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MIF4GD Glu194Lys E194K not reviewed Insufficiently evaluated not reviewed unknown Array rs61739324 584 10758 0.0542852 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MIIP Lys99Asn K99N not reviewed Insufficiently evaluated not reviewed unknown Array rs11553925 2415 10752 0.224609 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 0 N - - MIIP Pro142Ser P142S not reviewed Insufficiently evaluated not reviewed unknown Array rs11588712 1234 10748 0.114812 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 0 N - - MIIP Lys167Glu K167E not reviewed Insufficiently evaluated not reviewed unknown Array rs2295283 7949 10758 0.738892 49 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MINA Ala385Thr A385T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MINA Ala386Thr A386T not reviewed Insufficiently evaluated not reviewed unknown Array rs2172257 4707 10756 0.437616 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MINA Ile290Val I290V not reviewed Insufficiently evaluated not reviewed unknown Array rs60134263 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 1 - 1 - - MINA Val221Gly V221G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - MINA Pro201Leu P201L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 3 - - MINA Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MINK1 Met41Thr M41T not reviewed Insufficiently evaluated not reviewed unknown Array rs6502827 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MINK1 Ala365Val A365V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MINK1 Ser652Pro S652P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MINK1 Ser669Pro S669P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MINK1 Ser689Pro S689P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MINK1 Arg656Trp R656W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MINK1 Arg673Trp R673W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MINK1 Arg693Trp R693W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MINK1 Thr750Ala T750A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MINK1 Thr758Ala T758A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MINK1 Thr767Ala T767A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MINK1 Thr787Ala T787A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MIOX Cys235Tyr C235Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 6 Y 2 N - - MIPEP Ser488Gly S488G not reviewed Insufficiently evaluated not reviewed unknown Array rs7333040 10591 10758 0.984477 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MIPEP Arg453His R453H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 3 - - MIPEP Glu352Asp E352D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MIPEP Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11551114 1152 10726 0.107403 13 0 12 0 0 - - - - - - - - - - - - - - - - 0.21 - - 0 - 0 N - - MIPEP Asp207Asn D207N not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MIPEP Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array 11 9564 0.00115015 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.472 - - 8 Y 1 N - - MIPOL1 Gln141Leu Q141L not reviewed Insufficiently evaluated not reviewed unknown Array rs35870036 128 10756 0.0119003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - MITF Leu348Ile L348I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MITF Leu354Ile L354I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.907 Y - -2 - 3 N - - MITF Leu430Ile L430I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MITF Leu439Ile L439I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MITF Leu454Ile L454I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MITF Leu455Ile L455I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 3 - 1 - - MKI67 Lys2875Arg K2875R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MKI67 Lys3235Arg K3235R not reviewed Insufficiently evaluated not reviewed unknown Array rs35120165 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 1 N - - MKI67 Lys2857Glu K2857E not reviewed Insufficiently evaluated not reviewed unknown Array rs8473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Lys3217Glu K3217E not reviewed Insufficiently evaluated not reviewed unknown Array rs8473 5427 10758 0.504462 39 0 48 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - MKI67 Thr2790Ser T2790S not reviewed Insufficiently evaluated not reviewed unknown Array rs11106 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MKI67 Thr3150Ser T3150S not reviewed Insufficiently evaluated not reviewed unknown Array rs11106 4635 10758 0.430842 36 0 43 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MKI67 Glu2742Gly E2742G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MKI67 Glu3102Gly E3102G not reviewed Insufficiently evaluated not reviewed unknown Array rs34750407 866 10748 0.0805731 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 0 N - - MKI67 Gln2566Lys Q2566K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MKI67 Gln2926Lys Q2926K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729202 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MKI67 Gln2544Arg Q2544R not reviewed Insufficiently evaluated not reviewed unknown Array rs11016071 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Gln2904Arg Q2904R not reviewed Insufficiently evaluated not reviewed unknown Array rs11016071 2390 10758 0.22216 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MKI67 Thr2508Ser T2508S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - -2 - 2 N - - MKI67 Thr2868Ser T2868S not reviewed Insufficiently evaluated not reviewed unknown Array rs2071496 2077 10758 0.193066 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MKI67 Arg2485His R2485H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MKI67 Arg2845His R2845H not reviewed Insufficiently evaluated not reviewed unknown Array rs11016072 780 10758 0.0725042 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.863 - - 1 - 1 N - - MKI67 Ser2433Asn S2433N not reviewed Insufficiently evaluated not reviewed unknown Array rs10082533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Ser2793Asn S2793N not reviewed Insufficiently evaluated not reviewed unknown Array rs10082533 2374 10758 0.220673 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - MKI67 Arg2426Gln R2426Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Arg2786Gln R2786Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10764749 2075 10758 0.19288 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 1 N - - MKI67 Thr2421Ile T2421I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Thr2781Ile T2781I not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - 3 - 0 N - - MKI67 Asp2400Gly D2400G not reviewed Insufficiently evaluated not reviewed unknown Array rs10082391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MKI67 Asp2760Gly D2760G not reviewed Insufficiently evaluated not reviewed unknown Array rs10082391 2380 10758 0.221231 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.047 - - 4 Y 0 N - - MKI67 Thr2360Pro T2360P not reviewed Insufficiently evaluated not reviewed unknown Array rs1050767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MKI67 Thr2720Pro T2720P not reviewed Insufficiently evaluated not reviewed unknown Array rs1050767 2233 10758 0.207566 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 1 N - - MKI67 Pro2309Ser P2309S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Pro2669Ser P2669S not reviewed Insufficiently evaluated not reviewed unknown Array rs34126970 78 10758 0.00725042 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - MKI67 Arg2289His R2289H not reviewed Insufficiently evaluated not reviewed unknown Array rs12777740 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MKI67 Arg2649His R2649H not reviewed Insufficiently evaluated not reviewed unknown Array rs12777740 2232 10758 0.207474 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.458 - - 1 - 0 N - - MKI67 Pro2248Leu P2248L not reviewed Insufficiently evaluated not reviewed unknown Array rs1063535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MKI67 Pro2608Leu P2608L not reviewed Insufficiently evaluated not reviewed unknown Array rs1063535 5379 10758 0.5 38 0 47 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 1 N - - MKI67 Asp2219Val D2219V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MKI67 Asp2579Val D2579V not reviewed Insufficiently evaluated not reviewed unknown Array 571 10758 0.0530768 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MKI67 Leu2205Phe L2205F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Leu2565Phe L2565F not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.839 - - 0 - 1 N - - MKI67 Thr2029Arg T2029R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Thr2389Arg T2389R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729192 78 10758 0.00725042 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.058 - - 3 - 0 N - - MKI67 Asn2003Ser N2003S not reviewed Insufficiently evaluated not reviewed unknown Array rs7071768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Asn2363Ser N2363S not reviewed Insufficiently evaluated not reviewed unknown Array rs7071768 5383 10758 0.500372 39 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MKI67 Thr1977Asn T1977N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.103 - - 1 - 0 N - - MKI67 Thr2337Asn T2337N not reviewed Insufficiently evaluated not reviewed unknown Array rs7083622 776 10758 0.0721324 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MKI67 Pro1844Ala P1844A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MKI67 Pro2204Ala P2204A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729209 78 10758 0.00725042 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - MKI67 Ile1741Thr I1741T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Ile2101Thr I2101T not reviewed Insufficiently evaluated not reviewed unknown Array rs11016073 1739 10758 0.161647 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - MKI67 Glu1608Asp E1608D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MKI67 Glu1968Asp E1968D not reviewed Insufficiently evaluated not reviewed unknown Array rs61729186 78 10758 0.00725042 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 1 N - - MKI67 Pro1517Leu P1517L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MKI67 Pro1877Leu P1877L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738284 880 10758 0.0817996 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.25 - - 7 Y 0 N - - MKI67 Arg1516Gln R1516Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11591817 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 2 N - - MKI67 Arg1876Gln R1876Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11591817 2231 10758 0.207381 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 1 N - - MKI67 Gln1503Leu Q1503L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MKI67 Gln1863Leu Q1863L not reviewed Insufficiently evaluated not reviewed unknown Array rs35245002 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - MKI67 Arg1457Thr R1457T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Arg1817Thr R1817T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MKI67 Val1199Met V1199M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Val1559Met V1559M not reviewed Insufficiently evaluated not reviewed unknown Array rs7918199 881 10758 0.0818925 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.666 - - 0 - 0 N - - MKI67 Glu1043Val E1043V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MKI67 Glu1403Val E1403V not reviewed Insufficiently evaluated not reviewed unknown Array rs3740423 1401 10758 0.130229 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - MKI67 Thr1247Ile T1247I not reviewed Insufficiently evaluated not reviewed unknown Array rs4750685 879 10758 0.0817066 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 1 N - - MKI67 Thr887Ile T887I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Gly1226Val G1226V not reviewed Insufficiently evaluated not reviewed unknown Array rs41306015 789 10758 0.0733408 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - MKI67 Gly866Val G866V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MKI67 Leu1166Pro L1166P not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - MKI67 Leu806Pro L806P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MKI67 Lys1144Glu K1144E not reviewed Insufficiently evaluated not reviewed unknown Array rs41300566 790 10758 0.0734337 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - MKI67 Lys784Glu K784E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Gly1042Ser G1042S not reviewed Insufficiently evaluated not reviewed unknown Array rs2152143 2204 10758 0.204871 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.265 - - 2 - 0 N - - MKI67 Gly682Ser G682S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MKI67 Ala512Val A512V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MKI67 Ala872Val A872V not reviewed Insufficiently evaluated not reviewed unknown Array rs2853344 784 10758 0.072876 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MKI67 Leu494Val L494V not reviewed Insufficiently evaluated not reviewed unknown Array rs2240 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Leu854Val L854V not reviewed Insufficiently evaluated not reviewed unknown Array rs2240 2385 10758 0.221695 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MKI67 Arg472Gln R472Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Arg832Gln R832Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MKI67 Arg472Trp R472W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MKI67 Arg832Trp R832W not reviewed Insufficiently evaluated not reviewed unknown Array rs34916904 279 10758 0.0259342 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MKI67 Ile271Leu I271L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MKI67 Ile631Leu I631L not reviewed Insufficiently evaluated not reviewed unknown Array rs997983 980 10758 0.091095 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - MKI67 Glu137Asp E137D not reviewed Insufficiently evaluated not reviewed unknown Array rs11016076 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MKI67 Glu497Asp E497D not reviewed Insufficiently evaluated not reviewed unknown Array rs11016076 2426 10758 0.225507 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.903 - - -2 - 1 N - - MKI67 Trp238Arg W238R not reviewed Insufficiently evaluated not reviewed unknown Array rs7095325 2960 10758 0.275144 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MKI67 Arg123His R123H not reviewed Insufficiently evaluated not reviewed unknown Array rs41306644 95 10758 0.00883064 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MKI67 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array rs2071498 6572 10754 0.611121 45 0 66 0 0 - - - - - - - - - - - - - - - - 0.417 - - 0 - 0 N - - MKKS Gly532Val G532V not reviewed Insufficiently evaluated not reviewed unknown Array rs1545 1438 10758 0.133668 19 0 20 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y 8 Y 3 - 8 - - MKKS Arg517Cys R517C not reviewed Insufficiently evaluated not reviewed unknown Array rs1547 1438 10758 0.133668 19 0 20 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 8 Y 3 - 8 - - MKKS Ala488Thr A488T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734546 141 10758 0.0131065 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MKL1 Ser648Gly S648G not reviewed Insufficiently evaluated not reviewed unknown Array rs878756 5978 10758 0.55568 10 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MKL1 Thr485Met T485M not reviewed Insufficiently evaluated not reviewed unknown Array 127 10752 0.0118118 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - MKL2 Gly5Glu G5E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 8 - - MKL2 His288Gln H288Q not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MKL2 Ser398Pro S398P not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKNK2 Gln10Lys Q10K not reviewed Insufficiently evaluated not reviewed unknown Array rs3746101 465 9410 0.0494155 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 1 - 4 - - MKRN1 Val243Leu V243L not reviewed Insufficiently evaluated not reviewed unknown Array rs2272095 2029 10758 0.188604 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MKRN1 Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKRN2 Glu247Gln E247Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - MKS1 Arg463Gln R463Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 9878 0.00242964 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.092 Y Y 0 - 2 N - - MKX Ala318Gly A318G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - MLC1 Asn344Ser N344S not reviewed Insufficiently evaluated not reviewed unknown Array rs11568188 1105 10752 0.102772 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - MLC1 Val327Met V327M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.298 Y Y 0 - 3 N - - MLC1 Asn218Lys N218K benign Low clinical importance, Uncertain benign unknown Array rs41302601 31 10758 0.00288158 1 0 1 1 1 ! Y - - 1 Y - - - - - - Y - - - 0.995 Y Y 1 - 5 - 2 0 0 Probably benign. MLC1 Val200Phe V200F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 3 - 4 N - - MLC1 Cys171Phe C171F not reviewed Insufficiently evaluated not reviewed unknown Array rs6010260 1135 10758 0.105503 10 0 11 0 0 1 Y - - - - - - - - - - Y - - - 0.04 Y Y 4 Y 3 - 5 - - MLC1 Asn74Thr N74T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.24 Y Y 1 - 3 N - - MLF1 Ala118Thr A118T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MLF1 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array rs73024716 204 10758 0.0189626 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - MLF1 Pro201Thr P201T not reviewed Insufficiently evaluated not reviewed unknown Array rs15967 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MLF1 Pro226Thr P226T not reviewed Insufficiently evaluated not reviewed unknown Array rs15967 3752 10758 0.348764 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.023 - - 4 Y 0 N - - MLF1IP Ala279Thr A279T not reviewed Insufficiently evaluated not reviewed unknown Array rs34007339 544 10756 0.0505764 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MLF1IP Ile214Met I214M not reviewed Insufficiently evaluated not reviewed unknown Array rs4616798 2108 10752 0.196057 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MLF1IP Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 0 N - - MLF1IP Ile157Thr I157T not reviewed Insufficiently evaluated not reviewed unknown Array rs6552804 2107 10758 0.195854 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MLF1IP Gly16Ser G16S not reviewed Insufficiently evaluated not reviewed unknown Array rs902174 2017 10632 0.18971 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MLF1IP Pro9Ala P9A not reviewed Insufficiently evaluated not reviewed unknown Array rs876839 1043 9894 0.105417 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MLF2 Asp180Gly D180G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 4 Y 2 N - - MLH1 Val213Met V213M benign Low clinical importance, Uncertain benign dominant Array rs2308317 95 10758 0.00883064 2 0 2 5 3 0 Y 0 Y 0 Y - - 0 Y 0 Y Y - - - 0.003 Y Y 0 - MLH1-Related Hereditary Non-Polyposis Colon Cancer 0 1 1 53 0.000 3 - 2 0 0 Found segregating with non-polyposis colorectal cancer in a Portuguese family, but three later studies label it non-pathogenic. MLH1 Ile219Val I219V benign Low clinical importance, Uncertain benign dominant Array rs1799977 2580 10758 0.239822 28 0 32 8 6 0 Y 0 Y 0 Y - - 0 Y 0 Y Y - - - 0.003 Y Y -4 - MLH1-Related Hereditary Non-Polyposis Colon Cancer 16 144 9 141 1.741 3 - 10 0 0 Computational evidence, functional assays, and case/control studies suggest this variant is probably benign. MLH1 Gln701Lys Q701K benign Insufficiently evaluated benign dominant Array rs63750114 1 124 0.00806452 1 0 1 1 0 ! Y - - - - - - 0 Y 0 Y Y - - - 0.129 Y Y -2 - 2 N - - MLH3 Asp1073Asn D1073N not reviewed Insufficiently evaluated not reviewed unknown Array rs28756993 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 3 - 4 - - MLH3 Ser845Gly S845G not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 10 - - MLH3 Pro844Leu P844L not reviewed Insufficiently evaluated not reviewed unknown Array rs175080 4769 10758 0.443298 40 0 49 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - MLH3 Asn826Asp N826D not reviewed Insufficiently evaluated not reviewed unknown Array rs175081 10636 10758 0.98866 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MLH3 Val741Phe V741F pathogenic Insufficiently evaluated pathogenic other Array rs28756990 246 10758 0.0228667 1 0 1 2 2 - - - - 0 Y 2 Y - - - - - Y - - 0.024 - - 3 - 2 N 6 - - This variant is implicated in various familial cancers. MLH3 Met693Val M693V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLH3 Val420Ile V420I not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - MLKL Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34515646 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 3 - - MLL Glu1120Lys E1120K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - MLL2 Val3438Met V3438M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL2 Met3349Val M3349V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10446 0.000382921 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL2 Pro2400Ala P2400A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10324 9.6861e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLL2 Thr1246Met T1246M not reviewed Insufficiently evaluated not reviewed unknown Array 15 9812 0.00152874 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLL2 Pro1191Leu P1191L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10198 0.00058835 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MLL2 His769Tyr H769Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLL3 Gln3792Lys Q3792K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - -2 - 0 N - - MLL3 Ser3660Leu S3660L not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MLL3 Ser3547Pro S3547P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - MLL3 Thr2912Ile T2912I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - MLL3 Glu2686Ala E2686A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - MLL3 Leu2653Pro L2653P not reviewed Insufficiently evaluated not reviewed unknown Array rs61730547 111 10758 0.0103179 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MLL3 Pro2412Thr P2412T not reviewed Insufficiently evaluated not reviewed unknown Array rs13231116 210 10758 0.0195204 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MLL3 Gln1787Stop Q1787X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MLL3 Ser990Gly S990G not reviewed Insufficiently evaluated not reviewed unknown Array 512 10444 0.0490234 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - MLL3 Tyr987His Y987H not reviewed Insufficiently evaluated not reviewed unknown Array 3711 9380 0.395629 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 1 N - - MLL3 Arg973Gly R973G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MLL3 Asn942Thr N942T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - MLL3 Val919Leu V919L not reviewed Insufficiently evaluated not reviewed unknown Array 756 10720 0.0705224 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - MLL3 Gly908Cys G908C not reviewed Insufficiently evaluated not reviewed unknown Array 69 10748 0.0064198 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - MLL3 Arg894Gln R894Q not reviewed Insufficiently evaluated not reviewed unknown Array 158 10746 0.0147031 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MLL3 Pro860Ser P860S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - MLL3 Trp858Leu W858L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - MLL3 Gly838Ser G838S not reviewed Insufficiently evaluated not reviewed unknown Array 5036 10754 0.468291 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 1 N - - MLL3 Ser772Leu S772L not reviewed Insufficiently evaluated not reviewed unknown Array rs4024453 1434 10758 0.133296 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.45 - - 6 Y 0 N - - MLL3 Arg679Lys R679K not reviewed Insufficiently evaluated not reviewed unknown Array 3 18 0.166667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MLL3 Glu674Lys E674K not reviewed Insufficiently evaluated not reviewed unknown Array 4 8 0.5 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MLL3 Arg526Pro R526P not reviewed Insufficiently evaluated not reviewed unknown Array rs3735156 1842 10758 0.171221 17 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MLL3 Ile455Met I455M not reviewed Insufficiently evaluated not reviewed unknown Array rs77652527 313 10758 0.0290946 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - MLL3 Thr316Ser T316S not reviewed Insufficiently evaluated not reviewed unknown Array 6802 10758 0.632274 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 0 N - - MLL3 Leu291Phe L291F not reviewed Insufficiently evaluated not reviewed unknown Array rs56850341 1 2 0.5 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 1 N - - MLL4 Pro754Leu P754L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - MLL4 Pro1829Leu P1829L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MLL4 Asp2364Gly D2364G not reviewed Insufficiently evaluated not reviewed unknown Array rs231591 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MLL5 His1394Gln H1394Q not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - MLLT1 Ala297Thr A297T not reviewed Insufficiently evaluated not reviewed unknown Array 325 10710 0.0303455 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - MLLT10 Gly863Arg G863R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - MLLT10 Gly879Arg G879R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - MLLT4 Met502Val M502V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLLT4 Met517Val M517V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLLT4 Met518Val M518V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - MLLT4 Ala1607Val A1607V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT6 Val33Ile V33I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - MLLT6 Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT6 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array rs2241012 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - MLLT6 Asp806Glu D806E not reviewed Insufficiently evaluated not reviewed unknown Array rs62638660 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MLLT6 Ala1049Glu A1049E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLN Val15Ala V15A not reviewed Insufficiently evaluated not reviewed unknown Array rs2281820 6026 10758 0.560141 45 0 61 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MLPH Gln72Arg Q72R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLPH Leu153Pro L153P not reviewed Insufficiently evaluated not reviewed unknown Array rs3751109 2482 10756 0.230755 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MLPH Gly172Asp G172D not reviewed Insufficiently evaluated not reviewed unknown Array rs3751107 2488 10758 0.23127 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MLPH Thr289Ile T289I not reviewed Insufficiently evaluated not reviewed unknown Array rs11883500 2032 10756 0.188918 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MLPH His347Arg H347R not reviewed Insufficiently evaluated not reviewed unknown Array rs2292884 3860 10758 0.358803 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MLPH Val346Ala V346A not reviewed Insufficiently evaluated not reviewed unknown Array rs3817362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLPH Val374Ala V374A not reviewed Insufficiently evaluated not reviewed unknown Array rs3817362 3584 10758 0.333147 36 0 56 0 0 - - - - - - - - - - - - - - - - 0.048 - - 2 - 0 N - - MLPH Ala380Ser A380S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLPH Ala408Ser A408S not reviewed Insufficiently evaluated not reviewed unknown Array rs2271809 13 128 0.101562 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MLPH Pro423Ser P423S not reviewed Insufficiently evaluated not reviewed unknown Array rs58256353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLPH Pro451Ser P451S not reviewed Insufficiently evaluated not reviewed unknown Array rs58256353 690 10754 0.0641622 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.19 - - 3 - 0 N - - MLPH Ala554Val A554V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLPH Ala582Val A582V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 2 - 0 N - - MLX Gly37Arg G37R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - MLX Gln139Arg Q139R not reviewed Insufficiently evaluated not reviewed unknown Array rs665268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MLX Gln169Arg Q169R not reviewed Insufficiently evaluated not reviewed unknown Array rs665268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - MLX Gln223Arg Q223R not reviewed Insufficiently evaluated not reviewed unknown Array rs665268 2659 10758 0.247165 24 0 32 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 1 N - - MLXIP Glu396Gly E396G not reviewed Insufficiently evaluated not reviewed unknown Array rs7978353 4271 10158 0.420457 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MLXIP Asp414Asn D414N not reviewed Insufficiently evaluated not reviewed unknown Array 243 10262 0.0236796 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.665 - - -1 - 1 N - - MLXIPL Phe376Leu F376L not reviewed Insufficiently evaluated not reviewed unknown Array 1 8874 0.000112688 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - MLXIPL Ala358Val A358V not reviewed Insufficiently evaluated not reviewed unknown Array rs35332062 702 8156 0.0860716 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.345 - - 2 - 0 N - - MLXIPL Ser292Arg S292R not reviewed Insufficiently evaluated not reviewed unknown Array rs6948907 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 3 - 1 N - - MLXIPL Pro264His P264H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 5 Y 0 N - - MLXIPL Gln241His Q241H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3812316 997 10744 0.092796 7 0 7 0 0 - - - - - - - - - - - - - - Y Y 0.697 - - -1 - 2 N - - MLYCD Gly259Ala G259A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9848 0.000507717 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 1 - 1 N - - MLYCD Thr335Ser T335S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -2 - 1 N - - MLYCD Lys336Stop K336X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - MLYCD Lys336Thr K336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 3 - 1 N - - MLYCD Lys336Asn K336N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.098 Y - 1 - 1 N - - MMAA Gln363His Q363H not reviewed Insufficiently evaluated not reviewed unknown Array rs2270655 539 10758 0.0501022 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - MMAB Met239Lys M239K not reviewed Insufficiently evaluated not reviewed unknown Array rs9593 6433 10758 0.597974 44 0 60 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 9 - - MMAB Arg19His R19H not reviewed Insufficiently evaluated not reviewed unknown Array rs10774775 3297 10730 0.307269 4 0 5 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - MMACHC Asp60His D60H not reviewed Insufficiently evaluated not reviewed unknown Array rs6662272 296 10300 0.0287379 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.977 Y Y 3 - 4 N - - MMACHC Ile145Leu I145L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10198 0.00225534 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.56 Y Y -2 - 3 N - - MMACHC Ser271Gly S271G not reviewed Insufficiently evaluated not reviewed unknown Array rs35219601 415 9632 0.0430855 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.175 Y Y 2 - 2 N - - MMEL1 Met518Thr M518T not reviewed Insufficiently evaluated not reviewed unknown Array rs3748816 4886 10758 0.454174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MMEL1 Ile472Met I472M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 2 N - - MMP1 Val308Met V308M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MMP1 Val374Met V374M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.735 - - 0 - 2 - 1 - - MMP10 Gly65Arg G65R not reviewed Insufficiently evaluated not reviewed unknown Array rs17293607 1119 10758 0.104016 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MMP10 Arg53Lys R53K not reviewed Insufficiently evaluated not reviewed unknown Array rs486055 1172 10758 0.108942 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - MMP10 Leu4Val L4V not reviewed Insufficiently evaluated not reviewed unknown Array rs17435959 796 10758 0.0739914 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - MMP11 Ala38Val A38V not reviewed Insufficiently evaluated not reviewed unknown Array rs738792 8600 10714 0.802688 53 0 83 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MMP12 Gln279Arg Q279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - MMP13 Asp390Gly D390G not reviewed Insufficiently evaluated not reviewed unknown Array rs17860568 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.132 - - 4 Y 1 - 3 - - MMP14 Pro8Ser P8S not reviewed Insufficiently evaluated not reviewed unknown Array rs1042703 8956 10754 0.832806 56 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MMP14 Asp273Asn D273N not reviewed Insufficiently evaluated not reviewed unknown Array rs1042704 1545 10758 0.143614 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MMP14 Met355Ile M355I not reviewed Insufficiently evaluated not reviewed unknown Array rs17880989 172 10758 0.0159881 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MMP15 Gly609Arg G609R not reviewed Insufficiently evaluated not reviewed unknown Array rs3743563 1632 10756 0.151729 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - MMP16 Ile415Val I415V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MMP17 Ala129Gly A129G not reviewed Insufficiently evaluated not reviewed unknown Array rs4964883 234 10736 0.0217958 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - MMP17 Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array rs6598163 5028 10756 0.46746 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MMP17 Arg279His R279H not reviewed Insufficiently evaluated not reviewed unknown Array rs35466884 2400 10754 0.223173 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MMP17 Asp529Asn D529N not reviewed Insufficiently evaluated not reviewed unknown Array rs11835665 2199 10742 0.20471 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - MMP19 Arg475Trp R475W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - MMP19 Tyr360Cys Y360C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MMP2 Met359Ile M359I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MMP2 Met409Ile M409I not reviewed Insufficiently evaluated not reviewed unknown Array rs59727333 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.506 Y - -1 - 2 N - - MMP2 Ala397Val A397V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - MMP2 Ala447Val A447V not reviewed Insufficiently evaluated not reviewed unknown Array rs17859943 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MMP2 Val571Leu V571L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MMP2 Val621Leu V621L not reviewed Insufficiently evaluated not reviewed unknown Array rs16955280 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MMP20 Thr281Asn T281N not reviewed Insufficiently evaluated not reviewed unknown Array rs1784424 4366 10758 0.405838 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MMP20 Val275Ala V275A not reviewed Insufficiently evaluated not reviewed unknown Array rs1784423 4366 10758 0.405838 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MMP20 Ile169Leu I169L not reviewed Insufficiently evaluated not reviewed unknown Array rs17099008 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.541 - - -2 - 1 N - - MMP20 Lys18Thr K18T not reviewed Insufficiently evaluated not reviewed unknown Array rs2245803 6898 10758 0.641197 48 0 70 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MMP21 Ala454Val A454V not reviewed Insufficiently evaluated not reviewed unknown Array rs28381319 308 10758 0.0286299 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - MMP21 Val191Ala V191A not reviewed Insufficiently evaluated not reviewed unknown Array rs10901425 7664 9772 0.784282 13 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MMP24 Ala3Glu A3E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MMP25 Pro168Ala P168A not reviewed Insufficiently evaluated not reviewed unknown Array rs61747721 376 10758 0.0349507 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - MMP25 Asp226Asn D226N not reviewed Insufficiently evaluated not reviewed unknown Array rs61747718 421 10758 0.0391337 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.896 - - -1 - 2 N - - MMP25 Gly541Glu G541E not reviewed Insufficiently evaluated not reviewed unknown Array 1170 10406 0.112435 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 0 N - - MMP26 Lys43Glu K43E not reviewed Insufficiently evaluated not reviewed unknown Array rs2499953 1066 10758 0.099089 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.716 - - 0 - 0 N - - MMP26 Leu77Pro L77P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.343 - - 7 Y 1 N - - MMP26 Ile260Met I260M not reviewed Insufficiently evaluated not reviewed unknown Array rs16908114 234 10758 0.0217513 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - MMP27 Asp447Asn D447N not reviewed Insufficiently evaluated not reviewed unknown Array rs2509010 2403 10752 0.223493 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.012 - - -1 - 0 N - - MMP27 Trp304Leu W304L not reviewed Insufficiently evaluated not reviewed unknown Array rs35616217 63 10758 0.00585611 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 3 - 2 - - MMP27 Glu266Val E266V not reviewed Insufficiently evaluated not reviewed unknown Array rs1276286 4127 10758 0.383621 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MMP27 Met30Val M30V not reviewed Insufficiently evaluated not reviewed unknown Array rs2846707 7883 10758 0.732757 54 0 94 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - MMP27 Thr24Met T24M not reviewed Insufficiently evaluated not reviewed unknown Array rs1939015 8606 10758 0.799963 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MMP27 Arg22Trp R22W not reviewed Insufficiently evaluated not reviewed unknown Array rs12099177 1086 10758 0.100948 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 0 N - - MMP28 Gln495Arg Q495R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP28 Pro473Leu P473L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MMP28 Ala467Val A467V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MMP28 Pro154Leu P154L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MMP3 Lys45Glu K45E not reviewed Insufficiently evaluated not reviewed unknown Array rs679620 5896 10758 0.548057 47 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MMP7 Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs10502001 1727 10758 0.160532 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MMP8 Asn463Asp N463D not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - MMP8 Lys460Thr K460T not reviewed Insufficiently evaluated not reviewed unknown Array rs35866072 1119 10758 0.104016 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MMP8 Val436Ala V436A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 2 - - MMP8 Lys87Glu K87E not reviewed Insufficiently evaluated not reviewed unknown Array rs1940475 5926 10758 0.550846 48 0 77 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MMP8 Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array rs61747594 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - MMP8 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array rs3765620 6679 10758 0.62084 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MMP8 Ser3Cys S3C not reviewed Insufficiently evaluated not reviewed unknown Array rs17099450 534 10758 0.0496375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - MMP9 Ala20Val A20V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805088 179 10756 0.0166419 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - MMP9 Gln279Arg Q279R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17576 3726 10758 0.346347 28 0 33 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - MMP9 Arg574Pro R574P not reviewed Insufficiently evaluated not reviewed unknown Array rs2250889 9875 10758 0.917922 53 0 85 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MMP9 Arg668Gln R668Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17577 1263 9370 0.134792 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MMRN1 Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array rs1442138 947 10758 0.0880275 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MMRN1 Ser102Phe S102F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - MMRN1 Thr805Ala T805A not reviewed Insufficiently evaluated not reviewed unknown Array rs3756065 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - MMRN1 Gly883Asp G883D not reviewed Insufficiently evaluated not reviewed unknown Array rs12646270 354 10734 0.0329793 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - MMRN2 Val910Leu V910L not reviewed Insufficiently evaluated not reviewed unknown Array rs34587013 963 10758 0.0895148 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - MMRN2 His731Asp H731D not reviewed Insufficiently evaluated not reviewed unknown Array rs4934281 10079 10758 0.936884 14 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MMRN2 Arg590His R590H not reviewed Insufficiently evaluated not reviewed unknown Array 125 9366 0.0133461 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 2 N - - MMRN2 Arg270His R270H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 1 - 1 - - MMRN2 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array rs3750823 4128 10758 0.383714 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MMS19 Gly790Asp G790D not reviewed Insufficiently evaluated not reviewed unknown Array rs3740526 3685 10736 0.343238 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MMS19 Ala558Val A558V not reviewed Insufficiently evaluated not reviewed unknown Array rs12360068 323 10758 0.0300242 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.674 - - 2 - 1 N - - MMS19 Ala68Gly A68G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275586 10175 10756 0.945984 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MN1 Gln382His Q382H not reviewed Insufficiently evaluated not reviewed unknown Array 215 8462 0.0254077 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MNS1 Gln55Pro Q55P not reviewed Insufficiently evaluated not reviewed unknown Array rs1715919 886 10754 0.0823879 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.105 - - 4 Y 0 N - - MNS1 Cys10Tyr C10Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34807682 1301 10758 0.120933 16 0 21 0 0 - - - - - - - - - - - - - - - - 0.22 - - 6 Y 0 N - - MNT Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array 561 9444 0.0594028 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MOAP1 Gln292Arg Q292R not reviewed Insufficiently evaluated not reviewed unknown Array rs74075220 64 10758 0.00594906 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - MOAP1 Leu265Phe L265F not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.245 - - 0 - 1 N - - MOBKL2B Val175Glu V175E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MOBKL2C Ser113Phe S113F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 2 N - - MOBKL2C Ser165Phe S165F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MOBKL2C Met28Ile M28I not reviewed Insufficiently evaluated not reviewed unknown Array rs11211328 2687 10758 0.249768 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MOBKL2C Arg24Stop R24X not reviewed Insufficiently evaluated not reviewed unknown Array rs6671527 5354 10758 0.497676 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MOBKL2C Arg3His R3H not reviewed Insufficiently evaluated not reviewed unknown Array rs12029680 3592 10758 0.333891 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MOCOS Ser22Arg S22R not reviewed Insufficiently evaluated not reviewed unknown Array 472 8330 0.0566627 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 0 N - - MOCOS Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MOCOS Ser120Asn S120N not reviewed Insufficiently evaluated not reviewed unknown Array rs3744900 379 10758 0.0352296 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.508 - - 0 - 1 N - - MOCOS Thr170Ile T170I not reviewed Insufficiently evaluated not reviewed unknown Array rs623053 9796 10758 0.910578 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MOCOS Ser184Gly S184G not reviewed Insufficiently evaluated not reviewed unknown Array rs540967 10659 10758 0.990798 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MOCOS His225Arg H225R not reviewed Insufficiently evaluated not reviewed unknown Array rs623558 10659 10758 0.990798 56 0 110 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - MOCOS Val358Met V358M not reviewed Insufficiently evaluated not reviewed unknown Array rs678560 9711 10758 0.902677 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MOCOS Arg489Cys R489C not reviewed Insufficiently evaluated not reviewed unknown Array rs35980997 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - MOCOS His703Asn H703N not reviewed Insufficiently evaluated not reviewed unknown Array rs594445 2319 10758 0.215561 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 1 N - - MOCOS Val867Met V867M not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOCOS Val867Ala V867A not reviewed Insufficiently evaluated not reviewed unknown Array rs1057251 976 10758 0.0907232 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - MOCS1 Arg556His R556H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - MOCS1 Arg572His R572H not reviewed Insufficiently evaluated not reviewed unknown Array 185 10756 0.0171997 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - MOCS1 Arg436Leu R436L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - MOCS1 Arg452Leu R452L not reviewed Insufficiently evaluated not reviewed unknown Array rs11969206 413 10758 0.03839 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MOCS1 Pro374His P374H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - MOCS1 Pro390His P390H not reviewed Insufficiently evaluated not reviewed unknown Array rs11969769 367 10738 0.0341777 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - MOCS1 Leu239His L239H not reviewed Insufficiently evaluated not reviewed unknown Array rs7762875 730 10758 0.0678565 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - MOCS1 Ala233Val A233V not reviewed Insufficiently evaluated not reviewed unknown Array rs35825585 542 10758 0.0503811 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - MOCS2 Asp35Gly D35G not reviewed Insufficiently evaluated not reviewed unknown Array rs73094933 29 10758 0.00269567 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.205 Y - 4 Y 2 N - - MOCS3 Ser429Ala S429A not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - MOG Val171Leu V171L not reviewed Insufficiently evaluated not reviewed unknown Array rs2857766 1369 7522 0.181999 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MOG Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array rs3130253 7060 7522 0.93858 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MOGAT1 Ala13Thr A13T not reviewed Insufficiently evaluated not reviewed unknown Array rs35959734 492 9524 0.051659 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MOGAT1 Ser35Tyr S35Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - MOGAT1 Ile36Met I36M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - MOGAT1 Ser163Pro S163P not reviewed Insufficiently evaluated not reviewed unknown Array rs1868024 2455 9612 0.25541 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MOGAT2 Met9Val M9V not reviewed Insufficiently evaluated not reviewed unknown Array rs554202 47 128 0.367188 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MOGAT2 Thr35Ile T35I not reviewed Insufficiently evaluated not reviewed unknown Array rs35828061 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MOGAT3 Ser263Cys S263C not reviewed Insufficiently evaluated not reviewed unknown Array rs73408440 101 10756 0.00939011 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 1 N - - MOGAT3 Pro155Leu P155L not reviewed Insufficiently evaluated not reviewed unknown Array rs73408446 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MOGS Arg572Trp R572W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MOGS Arg678Trp R678W not reviewed Insufficiently evaluated not reviewed unknown Array rs13405869 253 9986 0.0253355 5 0 6 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - MOGS Arg400Gln R400Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MOGS Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.895 Y Y 0 - 4 N - - MOGS Pro187Ser P187S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MOGS Pro293Ser P293S not reviewed Insufficiently evaluated not reviewed unknown Array rs2268416 3294 9918 0.332123 31 0 49 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - MOGS Asp133Asn D133N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 4 - 1 - - MOGS Asp239Asn D239N not reviewed Insufficiently evaluated not reviewed unknown Array rs1063588 3064 10010 0.306094 38 0 57 0 0 3 Y - - - - - - - - - - Y - - - 0.031 Y Y -1 - 2 N - - MOGS Val62Met V62M not reviewed Insufficiently evaluated not reviewed unknown Array 385 9642 0.0399295 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.018 Y Y 0 - 2 N - - MON1B Glu19Gly E19G not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - MON1B Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MON2 Ala548Thr A548T not reviewed Insufficiently evaluated not reviewed unknown Array rs10219555 3935 10758 0.365774 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MON2 Thr939Pro T939P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MON2 Ile1385Val I1385V not reviewed Insufficiently evaluated not reviewed unknown Array rs11174549 958 10758 0.08905 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MORC1 His836Tyr H836Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2593943 4665 10758 0.433631 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MORC1 Ser767Asn S767N not reviewed Insufficiently evaluated not reviewed unknown Array rs2290057 1485 10756 0.138062 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MORC1 Met649Ile M649I not reviewed Insufficiently evaluated not reviewed unknown Array rs35421732 370 10756 0.0343994 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - -1 - 0 N - - MORC1 Met478Val M478V not reviewed Insufficiently evaluated not reviewed unknown Array rs3762697 1818 10758 0.168991 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 1 N - - MORC1 Phe470Ile F470I not reviewed Insufficiently evaluated not reviewed unknown Array rs4855576 9507 10758 0.883714 51 0 92 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MORC1 Lys322Met K322M not reviewed Insufficiently evaluated not reviewed unknown Array rs17225637 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - MORC2 Asn147Ser N147S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MORC4 Thr473Ile T473I not reviewed Insufficiently evaluated not reviewed unknown Array rs6622126 4998 8761 0.570483 44 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MORC4 Asn326Ser N326S not reviewed Insufficiently evaluated not reviewed unknown Array rs41304048 154 8761 0.0175779 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - MORF4 Asn192Asp N192D not reviewed Insufficiently evaluated not reviewed unknown Array rs11726970 22 128 0.171875 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MORF4 Asn147Tyr N147Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34402795 28 128 0.21875 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MORF4 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62342044 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MORF4L1 Asn152Ser N152S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MORF4L1 Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array rs73477676 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MORN1 Arg497Trp R497W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - MORN1 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729821 175 10652 0.0164288 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MORN2 Glu48Lys E48K not reviewed Insufficiently evaluated not reviewed unknown Array rs3099950 328 3234 0.101422 2 0 2 0 0 - - - - - - - - - - - - - - Y - - - - 0 - 2 N 1 - - MORN5 Gly86Ser G86S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MOS Ala105Ser A105S not reviewed Insufficiently evaluated not reviewed unknown Array rs35392772 10 126 0.0793651 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - MOSC1 Val96Leu V96L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - MOSC1 Thr165Ala T165A not reviewed Insufficiently evaluated not reviewed unknown Array rs2642438 8353 10758 0.776445 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MOSC2 Gly244Ser G244S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795535 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 3 - 2 - - MOV10L1 Thr18Ser T18S not reviewed Insufficiently evaluated not reviewed unknown Array rs12628964 1118 7446 0.150148 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MOV10L1 Met57Leu M57L not reviewed Insufficiently evaluated not reviewed unknown Array rs9617066 2277 10758 0.211656 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MOV10L1 Arg182Cys R182C not reviewed Insufficiently evaluated not reviewed unknown Array rs3810971 2254 10758 0.209518 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 1 N - - MOV10L1 Ile454Leu I454L not reviewed Insufficiently evaluated not reviewed unknown Array rs760749 1274 10758 0.118423 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - MOV10L1 Val650Ile V650I not reviewed Insufficiently evaluated not reviewed unknown Array rs2340601 2251 10758 0.20924 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.078 - - -4 - 0 N - - MOV10L1 Gln820Arg Q820R not reviewed Insufficiently evaluated not reviewed unknown Array rs2272837 2387 10758 0.221881 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MOV10L1 Ala1179Glu A1179E not reviewed Insufficiently evaluated not reviewed unknown Array rs2272843 1242 10758 0.115449 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MOXD1 Glu488Gln E488Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36075540 362 10758 0.0336494 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MPDU1 Ala229Thr A229T not reviewed Insufficiently evaluated not reviewed unknown Array rs10852891 1860 10758 0.172895 15 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - MPDZ Arg1879Lys R1879K not reviewed Insufficiently evaluated not reviewed unknown Array rs34605667 295 9814 0.0300591 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MPDZ Thr1604Ala T1604A not reviewed Insufficiently evaluated not reviewed unknown Array rs16930134 157 9600 0.0163542 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MPDZ Pro972Ser P972S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MPDZ Leu820Val L820V not reviewed Insufficiently evaluated not reviewed unknown Array 36 9772 0.00368399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MPDZ Pro788Thr P788T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9776 0.000102291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MPDZ Leu347Phe L347F not reviewed Insufficiently evaluated not reviewed unknown Array 27 10112 0.00267009 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPEG1 Pro552Leu P552L not reviewed Insufficiently evaluated not reviewed unknown Array rs7926933 842 9648 0.087272 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - MPEG1 Ala467Thr A467T not reviewed Insufficiently evaluated not reviewed unknown Array rs544864 2393 9866 0.24255 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - MPHOSPH10 Glu69Ala E69A not reviewed Insufficiently evaluated not reviewed unknown Array rs10199088 3560 10758 0.330917 35 0 40 0 0 - - - - - - - - - - - - - - - - 0.668 - - 3 - 0 N - - MPHOSPH10 Arg115His R115H not reviewed Insufficiently evaluated not reviewed unknown Array rs13010513 1933 10758 0.17968 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - MPHOSPH10 Glu229Asp E229D not reviewed Insufficiently evaluated not reviewed unknown Array rs1813160 3545 10758 0.329522 35 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MPHOSPH10 Leu425Met L425M not reviewed Insufficiently evaluated not reviewed unknown Array rs3732240 130 10758 0.012084 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.96 - - -3 - 2 N - - MPHOSPH10 Glu634Lys E634K not reviewed Insufficiently evaluated not reviewed unknown Array rs6574 2826 10752 0.262835 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 1 N - - MPHOSPH6 Asp134Gly D134G not reviewed Insufficiently evaluated not reviewed unknown Array rs34375324 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MPHOSPH6 Arg8Lys R8K not reviewed Insufficiently evaluated not reviewed unknown Array rs2303262 8733 10746 0.812674 40 0 74 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MPHOSPH8 Asp460Tyr D460Y not reviewed Insufficiently evaluated not reviewed unknown Array rs75390100 305 10758 0.028351 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - MPHOSPH9 Gly125Ser G125S not reviewed Insufficiently evaluated not reviewed unknown Array rs36121382 434 10752 0.0403646 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPL Lys39Asn K39N not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - MPL Val114Met V114M benign Insufficiently evaluated benign unknown Array rs12731981 240 10758 0.022309 3 0 3 2 2 - - - - - - - - - - - - Y - - - 0.796 Y - 0 - 3 - 2 - - A study in 2001 reported an association with Congenital Amegakaryocytic Thrombocytopenia, but a report in 2009 reclassified it as a benign polymorphism. MPN2 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPN2 Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPN2 Arg159His R159H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MPN2 Met204Val M204V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPN2 Ile224Asn I224N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MPND Val406Met V406M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPND Val426Met V426M not reviewed Insufficiently evaluated not reviewed unknown Array 16 9938 0.00160998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - MPO Val53Phe V53F not reviewed Insufficiently evaluated not reviewed unknown Array rs7208693 1191 10756 0.110729 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - MPP2 Val81Leu V81L not reviewed Insufficiently evaluated not reviewed unknown Array rs412849 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPP2 His80Gln H80Q not reviewed Insufficiently evaluated not reviewed unknown Array rs440755 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MPP3 Arg585Gly R585G not reviewed Insufficiently evaluated not reviewed unknown Array rs17742683 725 9904 0.0732027 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 Y - 6 Y 2 N - - MPP4 Val562Ile V562I not reviewed Insufficiently evaluated not reviewed unknown Array rs11894115 830 9668 0.0858502 13 0 15 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 0 N - - MPP4 Ser361Ala S361A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 - - -1 - 0 N - - MPP4 Gly44Ser G44S not reviewed Insufficiently evaluated not reviewed unknown Array rs6725443 9820 10116 0.970739 56 0 109 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 - 1 - - MPP5 Arg263His R263H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.336 - - 1 - 1 N - - MPP6 Gly299Stop G299X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MPP7 Lys322Arg K322R not reviewed Insufficiently evaluated not reviewed unknown Array rs2997211 9717 10758 0.903235 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MPPE1 Thr304Met T304M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10750 0.00260465 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPPE1 Ala268Pro A268P not reviewed Insufficiently evaluated not reviewed unknown Array rs662515 4571 10758 0.424893 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MPPE1 Glu216Asp E216D not reviewed Insufficiently evaluated not reviewed unknown Array rs61746954 86 10756 0.00799554 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MPRIP Ser189Ile S189I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MPRIP Pro327Gln P327Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3744137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MPRIP Val719Met V719M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPV17L2 Met72Val M72V not reviewed Insufficiently evaluated not reviewed unknown Array rs874628 2521 10222 0.246625 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.328 - - 0 - 0 N - - MPZL1 Pro14Ser P14S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 3 - 2 N - - MPZL2 Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - MPZL3 Val168Gly V168G not reviewed Insufficiently evaluated not reviewed unknown Array rs36102742 327 10758 0.030396 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - 8 Y 0 N - - MR1 His39Arg H39R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236410 1577 10758 0.146589 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 1 N - - MRAP Val50Met V50M not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.33 Y - 0 - 2 N - - MRAP Cys78Trp C78W not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 7 Y 3 N - - MRAP Pro95Leu P95L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.936 Y - 7 Y 3 N - - MRAP2 Ile47Thr I47T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - MRAP2 Ser185Cys S185C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.516 - - 3 - 1 N - - MRAS Ile136Ser I136S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.227 - - 5 Y 1 N - - MRC1 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MRC1 Ser396Gly S396G not reviewed Insufficiently evaluated not reviewed unknown Array rs1926736 6482 10416 0.622312 12 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MRC1 Thr399Ala T399A not reviewed Insufficiently evaluated not reviewed unknown Array rs71497223 1252 6216 0.201416 10 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRC1 Leu407Phe L407F not reviewed Insufficiently evaluated not reviewed unknown Array rs34284571 704 5510 0.127768 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MRC1L1 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MRC1L1 Ser396Gly S396G not reviewed Insufficiently evaluated not reviewed unknown Array rs1926736 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRC1L1 Thr399Ala T399A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRC1L1 Leu407Phe L407F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRC2 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array rs2014055 1341 10758 0.124651 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MRC2 His173Tyr H173Y not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MRC2 Arg546Trp R546W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MRC2 Arg1156His R1156H not reviewed Insufficiently evaluated not reviewed unknown Array rs2429387 8973 10750 0.834698 23 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRE11A Leu7Phe L7F not reviewed Insufficiently evaluated not reviewed unknown Array rs73517551 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 0 - 0 N - - MREG Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array rs1864253 5539 8222 0.67368 37 0 60 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MRGPRD Ile63Thr I63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 3 - 0 N - - MRGPRE Pro209Leu P209L not reviewed Insufficiently evaluated not reviewed unknown Array rs4405289 268 9904 0.0270598 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - MRGPRE Arg174Gln R174Q not reviewed Insufficiently evaluated not reviewed unknown Array 74 9828 0.00752951 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - MRGPRE Gly159Ser G159S not reviewed Insufficiently evaluated not reviewed unknown Array rs4391795 2882 10126 0.284614 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.617 - - 2 - 0 N - - MRGPRE Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array rs12295710 3576 9940 0.359759 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MRGPRF Gly202Asp G202D not reviewed Insufficiently evaluated not reviewed unknown Array 6 114 0.0526316 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 1 N - - MRGPRF Lys16Arg K16R not reviewed Insufficiently evaluated not reviewed unknown Array rs11544721 3271 10758 0.304053 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.161 - - -3 - 0 N - - MRGPRX1 Arg55Leu R55L not reviewed Insufficiently evaluated not reviewed unknown Array rs55954376 134 10742 0.0124744 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - MRGPRX1 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 1687 10742 0.157047 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - MRGPRX2 Arg140Cys R140C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MRGPRX2 Asn62Ser N62S not reviewed Insufficiently evaluated not reviewed unknown Array rs10833049 3653 10758 0.339561 32 0 42 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - MRGPRX2 Arg61Gly R61G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - MRGPRX2 Asn16His N16H not reviewed Insufficiently evaluated not reviewed unknown Array rs11024970 955 10758 0.0887711 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - MRGPRX3 Cys82Arg C82R not reviewed Insufficiently evaluated not reviewed unknown Array rs12291017 3019 10758 0.280628 27 0 39 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MRGPRX3 Asn169Asp N169D not reviewed Insufficiently evaluated not reviewed unknown Array rs4274188 7527 10758 0.699665 53 0 83 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MRGPRX3 Trp236Arg W236R not reviewed Insufficiently evaluated not reviewed unknown Array rs72863191 954 10758 0.0886782 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MRGPRX4 Phe8Leu F8L not reviewed Insufficiently evaluated not reviewed unknown Array rs2468774 2936 10758 0.272913 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MRGPRX4 Asn25Lys N25K not reviewed Insufficiently evaluated not reviewed unknown Array rs2445180 2937 10758 0.273006 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRGPRX4 Tyr54Cys Y54C not reviewed Insufficiently evaluated not reviewed unknown Array rs1869788 3408 10758 0.316788 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MRGPRX4 Leu83Ser L83S not reviewed Insufficiently evaluated not reviewed unknown Array rs2445179 10367 10758 0.963655 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MRGPRX4 Val142Met V142M not reviewed Insufficiently evaluated not reviewed unknown Array 406 10758 0.0377394 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRGPRX4 Ser150Phe S150F not reviewed Insufficiently evaluated not reviewed unknown Array rs73434269 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 5 Y 2 N - - MRGPRX4 Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array rs11024532 2404 10758 0.223462 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MRI1 Met188Val M188V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRI1 Met235Val M235V not reviewed Insufficiently evaluated not reviewed unknown Array rs35098252 337 10758 0.0313255 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - MRI1 Gly272Ala G272A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRI1 Gly319Ala G319A not reviewed Insufficiently evaluated not reviewed unknown Array rs10402855 758 10758 0.0704592 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MRM1 Pro98Ser P98S not reviewed Insufficiently evaluated not reviewed unknown Array rs60978234 60 10708 0.00560329 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.52 - - 3 - 1 N - - MRM1 Cys120Ser C120S not reviewed Insufficiently evaluated not reviewed unknown Array 351 10664 0.0329145 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - MRO Thr134Ala T134A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - 1 - 0 N - - MRO Thr148Ala T148A not reviewed Insufficiently evaluated not reviewed unknown Array rs2849233 3273 10758 0.304239 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRO Arg39Ser R39S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - MRO Arg53Ser R53S not reviewed Insufficiently evaluated not reviewed unknown Array rs4940019 4250 10758 0.395055 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRO Thr23Asn T23N not reviewed Insufficiently evaluated not reviewed unknown Array rs3813089 678 3234 0.209647 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRO Ala2Glu A2E not reviewed Insufficiently evaluated not reviewed unknown Array rs3813090 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - MRPL1 Ala4Gly A4G not reviewed Insufficiently evaluated not reviewed unknown Array 114 9866 0.0115548 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 1 - 1 - - MRPL10 Val125Ile V125I not reviewed Insufficiently evaluated not reviewed unknown Array rs16948568 3108 10758 0.288901 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MRPL10 Lys31Stop K31X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MRPL11 Gly32Arg G32R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - MRPL12 Ser105Pro S105P not reviewed Insufficiently evaluated not reviewed unknown Array rs11546280 14 128 0.109375 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRPL16 Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12787462 203 10758 0.0188697 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 1 - 2 - - MRPL18 Arg6Gln R6Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1128670 7221 10758 0.671221 44 0 65 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - MRPL18 Leu10Trp L10W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - MRPL18 Ser157Stop S157X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MRPL19 Pro28Ala P28A not reviewed Insufficiently evaluated not reviewed unknown Array rs11552948 239 9438 0.0253232 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPL19 Val105Ile V105I not reviewed Insufficiently evaluated not reviewed unknown Array rs41382847 64 9438 0.0067811 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - MRPL23 Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34134444 515 10758 0.0478714 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRPL23 Gly32Ser G32S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240197 462 10754 0.0429608 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - MRPL23 Ala34Val A34V not reviewed Insufficiently evaluated not reviewed unknown Array rs6512 89 10748 0.00828061 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 2 - 1 N - - MRPL23 Asp81Asn D81N not reviewed Insufficiently evaluated not reviewed unknown Array rs4930142 91 10756 0.00846039 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.149 - - -1 - 0 N - - MRPL23 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array rs12812 1224 10756 0.113797 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRPL23 Pro148Leu P148L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - MRPL28 Asp160Glu D160E not reviewed Insufficiently evaluated not reviewed unknown Array rs11557302 369 10758 0.0343001 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.569 - - -2 - 1 N - - MRPL28 Gly47Glu G47E not reviewed Insufficiently evaluated not reviewed unknown Array 100 10722 0.00932662 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 6 Y 0 N - - MRPL28 His27Tyr H27Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3194151 1342 10694 0.125491 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - MRPL3 Met261Thr M261T not reviewed Insufficiently evaluated not reviewed unknown Array rs2291381 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - MRPL30 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array rs1044575 6594 10758 0.612939 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRPL35 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array rs10901 3934 10758 0.365681 21 0 26 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - MRPL36 Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MRPL36 Gly32Arg G32R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - MRPL37 Leu322Val L322V not reviewed Insufficiently evaluated not reviewed unknown Array rs2275408 17 10758 0.00158022 5 0 8 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - MRPL37 Cys366Ser C366S not reviewed Insufficiently evaluated not reviewed unknown Array rs13571 7978 10758 0.741588 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRPL38 Ala260Pro A260P not reviewed Insufficiently evaluated not reviewed unknown Array 77 10754 0.00716013 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.722 - - 2 - 2 - 1 - - MRPL39 Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MRPL39 Ser31Pro S31P not reviewed Insufficiently evaluated not reviewed unknown Array rs3989369 9722 10758 0.9037 54 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRPL4 Met253Val M253V not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MRPL40 Leu11Pro L11P not reviewed Insufficiently evaluated not reviewed unknown Array rs1128399 684 10378 0.0659087 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.26 - - 7 Y 0 N - - MRPL40 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array rs7575 2366 10758 0.219929 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRPL44 Asn82Asp N82D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MRPL44 Thr138Ile T138I not reviewed Insufficiently evaluated not reviewed unknown Array rs11546406 575 10758 0.0534486 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 0 N - - MRPL45 Val15Phe V15F not reviewed Insufficiently evaluated not reviewed unknown Array rs9890011 58 58 1 23 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRPL45 Ser20Phe S20F not reviewed Insufficiently evaluated not reviewed unknown Array rs11559007 40 74 0.540541 20 0 32 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MRPL45 Gly298Val G298V not reviewed Insufficiently evaluated not reviewed unknown Array rs34749623 483 10758 0.0448968 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPL46 His106Tyr H106Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16941888 847 10758 0.0787321 10 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MRPL46 Ala36Val A36V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - MRPL47 Arg103His R103H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPL47 Arg213His R213H not reviewed Insufficiently evaluated not reviewed unknown Array rs10513762 873 10752 0.0811942 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRPL47 Cys10Gly C10G not reviewed Insufficiently evaluated not reviewed unknown Array rs2339844 879 10758 0.0817066 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MRPL48 Ala20Gly A20G not reviewed Insufficiently evaluated not reviewed unknown Array rs58792356 196 9564 0.0204935 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPL50 Asn151Ser N151S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MRPL50 Leu127Phe L127F not reviewed Insufficiently evaluated not reviewed unknown Array rs8131 500 10754 0.0464943 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - MRPL52 Gly5Val G5V not reviewed Insufficiently evaluated not reviewed unknown Array rs1135641 5487 10754 0.510229 38 0 46 0 0 - - - - - - - - - - - - - - - - 0.021 - - 8 Y 0 N - - MRPL52 Val18Ala V18A not reviewed Insufficiently evaluated not reviewed unknown Array rs4982685 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPL52 Val19Ala V19A not reviewed Insufficiently evaluated not reviewed unknown Array rs4982685 8970 10756 0.833953 27 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MRPL52 Ala34Gly A34G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - MRPL52 Ala35Gly A35G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.349 - - 1 - 1 N - - MRPL53 Ala4Ser A4S not reviewed Insufficiently evaluated not reviewed unknown Array rs1047911 3586 10756 0.333395 38 0 57 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MRPL55 Arg25His R25H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPL55 Arg61His R61H not reviewed Insufficiently evaluated not reviewed unknown Array rs74140967 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPL55 Arg24Cys R24C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 8 Y 0 N - - MRPL55 Arg60Cys R60C not reviewed Insufficiently evaluated not reviewed unknown Array rs822730 669 10758 0.0621863 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MRPL55 Gly39Ser G39S not reviewed Insufficiently evaluated not reviewed unknown Array 19 3232 0.00587871 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPL9 Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array 1074 10758 0.0998327 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MRPL9 Glu210Ala E210A not reviewed Insufficiently evaluated not reviewed unknown Array rs8480 5709 10758 0.530675 44 0 57 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRPL9 Glu67Gly E67G not reviewed Insufficiently evaluated not reviewed unknown Array rs7007 1361 10756 0.126534 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MRPS10 Val96Met V96M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - MRPS11 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array rs16941904 865 10758 0.0804053 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MRPS16 Tyr12His Y12H not reviewed Insufficiently evaluated not reviewed unknown Array rs7905009 628 10758 0.0583752 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - -1 - 2 N - - MRPS17 Ser111Thr S111T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MRPS18A Pro141Arg P141R not reviewed Insufficiently evaluated not reviewed unknown Array rs35480020 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - MRPS18B Arg215Leu R215L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - MRPS18B Pro230Ala P230A not reviewed Insufficiently evaluated not reviewed unknown Array rs34315095 405 7520 0.0538564 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 1 N - - MRPS2 Ala179Val A179V not reviewed Insufficiently evaluated not reviewed unknown Array rs34149047 95 10758 0.00883064 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.216 - - 2 - 1 N - - MRPS2 His294Arg H294R not reviewed Insufficiently evaluated not reviewed unknown Array rs3748199 1498 10746 0.139401 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRPS21 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4845 1352 10758 0.125674 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - MRPS22 Ile95Leu I95L not reviewed Insufficiently evaluated not reviewed unknown Array rs73866065 253 10758 0.0235174 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MRPS24 Ala105Gly A105G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - MRPS24 Trp97Arg W97R not reviewed Insufficiently evaluated not reviewed unknown Array rs670573 967 10758 0.0898866 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.035 - - 7 Y 0 N - - MRPS27 Gly284Asp G284D not reviewed Insufficiently evaluated not reviewed unknown Array rs3209157 3869 10758 0.359639 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MRPS30 Cys33Ser C33S not reviewed Insufficiently evaluated not reviewed unknown Array rs3747479 3490 10554 0.33068 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MRPS30 Cys33Phe C33F not reviewed Insufficiently evaluated not reviewed unknown Array rs3747479 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 1 - 4 - - MRPS30 Glu128Gln E128Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61754779 182 10736 0.0169523 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - MRPS30 Ile233Arg I233R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - MRPS31 Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array rs13508 1715 10758 0.159416 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.665 - - -1 - 0 N - - MRPS33 Arg13His R13H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740816 273 10758 0.0253765 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MRPS35 Leu6Ile L6I not reviewed Insufficiently evaluated not reviewed unknown Array rs35475802 271 10754 0.0251999 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MRPS35 Gly43Arg G43R not reviewed Insufficiently evaluated not reviewed unknown Array rs1127787 1263 10758 0.117401 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MRPS36 Ser56Tyr S56Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 5 Y 1 N - - MRPS7 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array rs8075276 7087 10748 0.659378 39 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MRPS9 Ser13Leu S13L not reviewed Insufficiently evaluated not reviewed unknown Array rs13399067 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - MRRF Ile159Leu I159L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - MRS2 Arg61Cys R61C not reviewed Insufficiently evaluated not reviewed unknown Array rs11695 1133 10730 0.105592 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - MRVI1 Thr211Ala T211A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRVI1 Thr293Ala T293A not reviewed Insufficiently evaluated not reviewed unknown Array 168 9880 0.017004 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRVI1 Ala70Thr A70T not reviewed Insufficiently evaluated not reviewed unknown Array rs2162044 9456 9800 0.964898 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MRVI1 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array rs4909945 7835 10152 0.771769 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MS4A10 Pro219Leu P219L not reviewed Insufficiently evaluated not reviewed unknown Array rs12419635 882 10758 0.0819855 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MS4A10 Val220Ala V220A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MS4A12 Gln71Stop Q71X not reviewed Insufficiently evaluated not reviewed unknown Array rs2298553 4897 10758 0.455196 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MS4A13 Gly3Asp G3D not reviewed Insufficiently evaluated not reviewed unknown Array rs55756397 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - MS4A13 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array rs10736706 10184 10758 0.946644 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MS4A13 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array rs6591595 8453 10736 0.787351 48 0 80 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MS4A14 Asn160Tyr N160Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7131283 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MS4A14 Asn177Tyr N177Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7131283 6883 10758 0.639803 43 0 65 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 1 N - - MS4A14 Gly567Arg G567R not reviewed Insufficiently evaluated not reviewed unknown Array rs3825020 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MS4A14 Gly584Arg G584R not reviewed Insufficiently evaluated not reviewed unknown Array rs3825020 6175 10758 0.573991 40 0 60 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - MS4A14 Gln595His Q595H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - MS4A14 Gln612His Q612H not reviewed Insufficiently evaluated not reviewed unknown Array rs73481226 270 10758 0.0250976 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 2 N - - MS4A15 Ser20Gly S20G not reviewed Insufficiently evaluated not reviewed unknown Array rs12363342 3465 10188 0.340106 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 1 N - - MS4A15 Leu47Arg L47R not reviewed Insufficiently evaluated not reviewed unknown Array rs1032939 3593 10074 0.356661 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MS4A2 Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array rs35033981 202 10758 0.0187767 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.797 - - 2 - 2 - 2 - - MS4A2 Ser178Ala S178A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.221 - - -1 - 1 N - - MS4A2 Asn211Lys N211K not reviewed Insufficiently evaluated not reviewed unknown Array rs535630 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 1 - 2 - - MS4A2 Glu237Gly E237G not reviewed Insufficiently evaluated not reviewed unknown Array rs569108 800 10758 0.0743633 15 0 19 0 0 - - - - - - - - - - - - - Y - - 0.983 - - 6 Y 3 N - - MS4A4A Lys33Glu K33E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MS4A4A Lys52Glu K52E not reviewed Insufficiently evaluated not reviewed unknown Array rs10750931 1784 10758 0.16583 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 1 N - - MS4A4A Met159Val M159V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MS4A4A Met178Val M178V not reviewed Insufficiently evaluated not reviewed unknown Array rs6591561 3221 10758 0.299405 30 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MS4A6A Asn150Ile N150I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MS4A6A Thr185Ser T185S not reviewed Insufficiently evaluated not reviewed unknown Array rs7232 2964 10758 0.275516 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.044 - - -2 - 0 N - - MS4A6E Ile6Val I6V not reviewed Insufficiently evaluated not reviewed unknown Array rs2304935 3343 10758 0.310745 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MS4A6E Thr10Ala T10A not reviewed Insufficiently evaluated not reviewed unknown Array rs2304934 3343 10758 0.310745 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 0 N - - MS4A6E Val47Phe V47F not reviewed Insufficiently evaluated not reviewed unknown Array rs2304933 3340 10758 0.310467 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 0 N - - MS4A7 Pro112His P112H not reviewed Insufficiently evaluated not reviewed unknown Array rs2233249 256 10756 0.0238007 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - MS4A7 Pro67His P67H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MS4A7 Thr119Ile T119I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - MS4A7 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSGN1 Glu80Asp E80D not reviewed Insufficiently evaluated not reviewed unknown Array rs34069439 53 126 0.420635 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MSGN1 His104Tyr H104Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35858730 53 128 0.414062 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MSH2 Asn127Ser N127S not reviewed Insufficiently evaluated not reviewed unknown Array rs17217772 290 10758 0.0269567 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.634 Y Y 0 - 4 - 10 - - MSH2 Gly322Asp G322D benign Low clinical importance, Likely benign unknown Array 119 10758 0.0110615 1 0 1 6 6 0 Y 3 Y 3 Y - - - - - - Y Y - - 0.065 Y Y 4 Y 4 N 10 0 1 Although other variants in this mismatch repair gene are associated with cancer, most publications dismiss this variant as a polymorphism (HapMap allele frequency of 1.6%). MSH3 Ile79Val I79V not reviewed Insufficiently evaluated not reviewed unknown Array rs1650697 5679 6112 0.929156 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MSH3 Gln949Arg Q949R not reviewed Insufficiently evaluated not reviewed unknown Array rs184967 9187 10758 0.853969 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MSH3 Ala1045Thr A1045T not reviewed Insufficiently evaluated not reviewed unknown Array rs26279 7432 10758 0.690835 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MSH4 Ala97Thr A97T not reviewed Insufficiently evaluated not reviewed unknown Array rs5745325 3265 10758 0.303495 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MSH4 Ser914Asn S914N not reviewed Insufficiently evaluated not reviewed unknown Array rs5745549 735 10756 0.068334 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MSH5 Pro29Ser P29S not reviewed Insufficiently evaluated not reviewed unknown Array rs2075789 610 9782 0.0623594 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MSH5 Leu85Phe L85F not reviewed Insufficiently evaluated not reviewed unknown Array rs28381349 307 7524 0.0408028 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSH5 Val206Phe V206F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - MSH5 Val223Phe V223F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - MSH5 Pro786Ser P786S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSH5 Pro787Ser P787S not reviewed Insufficiently evaluated not reviewed unknown Array rs1802127 599 10758 0.0556795 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MSH5 Pro803Ser P803S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSH6 Gly39Glu G39E not reviewed Insufficiently evaluated not reviewed unknown Array rs1042821 1793 9862 0.181809 13 0 14 3 3 1 Y - - - - - - - - - - Y - - - 0.873 Y Y 6 Y 4 - 10 - - MSH6 Leu396Val L396V not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 3 - 2 - - MSLN Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array rs9927389 551 10716 0.0514184 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MSLN Arg139His R139H not reviewed Insufficiently evaluated not reviewed unknown Array 664 10684 0.062149 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MSLN Asn402Asp N402D not reviewed Insufficiently evaluated not reviewed unknown Array rs73491255 579 10714 0.0540414 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MSLN Asn488Asp N488D not reviewed Insufficiently evaluated not reviewed unknown Array rs35317722 291 10716 0.0271557 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSLN Asn496Asp N496D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSLN Gly489Glu G489E not reviewed Insufficiently evaluated not reviewed unknown Array rs35935235 374 10714 0.0349076 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MSLN Gly497Glu G497E not reviewed Insufficiently evaluated not reviewed unknown Array rs35935235 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - MSLN Met593Val M593V not reviewed Insufficiently evaluated not reviewed unknown Array rs1135210 3425 10594 0.323296 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MSLN Met601Val M601V not reviewed Insufficiently evaluated not reviewed unknown Array rs1135210 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSLN Val612Ile V612I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10730 0.000186393 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MSLN Val620Ile V620I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MSLNL Thr1050Arg T1050R not reviewed Insufficiently evaluated not reviewed unknown Array rs74001006 605 10166 0.0595121 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MSLNL Pro959Leu P959L not reviewed Insufficiently evaluated not reviewed unknown Array 130 9998 0.0130026 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MSLNL Ser948Gly S948G not reviewed Insufficiently evaluated not reviewed unknown Array rs9746539 3379 10420 0.32428 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MSLNL Thr924Ser T924S not reviewed Insufficiently evaluated not reviewed unknown Array 1298 10590 0.122568 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MSLNL Thr833Ala T833A not reviewed Insufficiently evaluated not reviewed unknown Array rs12599339 2881 9868 0.291954 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MSLNL Asp814Val D814V not reviewed Insufficiently evaluated not reviewed unknown Array rs12599363 2272 9892 0.229681 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MSLNL Gln590Stop Q590X not reviewed Insufficiently evaluated not reviewed unknown Array 137 9658 0.0141851 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MSLNL Ser523Arg S523R not reviewed Insufficiently evaluated not reviewed unknown Array 290 9944 0.0291633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSLNL Arg458Trp R458W not reviewed Insufficiently evaluated not reviewed unknown Array rs73491269 1226 9862 0.124316 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MSLNL Gly392Asp G392D not reviewed Insufficiently evaluated not reviewed unknown Array 42 10030 0.00418744 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MSLNL Phe58Val F58V not reviewed Insufficiently evaluated not reviewed unknown Array rs3765330 459 10498 0.0437226 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSR1 Pro286Thr P286T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 4 Y 2 N - - MSR1 Pro275Ala P275A not reviewed Insufficiently evaluated not reviewed unknown Array rs3747531 758 10756 0.0704723 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 - 10 - - MSRB2 Glu46Gly E46G not reviewed Insufficiently evaluated not reviewed unknown Array rs2296466 15 9702 0.00154607 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.743 - - 6 Y 1 N - - MST1 Arg703Cys R703C not reviewed Insufficiently evaluated not reviewed unknown Array 2960 10758 0.275144 2 0 2 0 0 - Y - - - - - - - - - - - - Y - - - - 8 Y 1 N - - MST1 Arg653His R653H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MST1 Arg513Gly R513G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MST1 Arg493Leu R493L not reviewed Insufficiently evaluated not reviewed unknown Array 453 10754 0.0421239 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - MST1 Cys338Arg C338R not reviewed Insufficiently evaluated not reviewed unknown Array 306 10302 0.029703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MST1 Thr294Ser T294S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - -2 - 1 - 1 - - MST1 Lys157Gln K157Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MST1 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array 1576 10742 0.146714 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - MST150 Asn11Lys N11K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MST150 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MST150 Glu32Ala E32A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MST1R Arg1335Gly R1335G not reviewed Insufficiently evaluated not reviewed unknown Array rs1062633 6036 10758 0.561071 39 0 56 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - MST1R Ser1195Gly S1195G not reviewed Insufficiently evaluated not reviewed unknown Array rs7433231 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MST1R Val946Met V946M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 1 - 2 - - MST1R Gln523Arg Q523R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230590 6011 10758 0.558747 39 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MST1R Asn440Ser N440S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230592 290 10758 0.0269567 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 5 - - MST1R Arg322Gln R322Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230593 525 10758 0.0488009 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - MSTN Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array rs1805085 480 10758 0.044618 11 0 11 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 3 - 8 - - MSTO1 Ile421Val I421V not reviewed Insufficiently evaluated not reviewed unknown Array rs61375216 96 10758 0.00892359 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MSTO1 Lys529Arg K529R not reviewed Insufficiently evaluated not reviewed unknown Array 2358 10152 0.232269 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - MSX1 Lys15Thr K15T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MSX2 Met129Thr M129T not reviewed Insufficiently evaluated not reviewed unknown Array rs4242182 8105 10758 0.753393 48 0 80 0 0 0 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - MT1A Thr27Asn T27N not reviewed Insufficiently evaluated not reviewed unknown Array rs11640851 5617 10758 0.522123 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MT1A Lys51Arg K51R not reviewed Insufficiently evaluated not reviewed unknown Array rs8052394 1549 10758 0.143986 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MT1E Thr27Asn T27N not reviewed Insufficiently evaluated not reviewed unknown Array 36 10752 0.00334821 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 1 - 1 N - - MT1E Gly40Asp G40D not reviewed Insufficiently evaluated not reviewed unknown Array rs72818417 602 10758 0.0559584 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.056 - - 4 Y 0 N - - MT1F Lys56Asn K56N not reviewed Insufficiently evaluated not reviewed unknown Array rs73551702 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.126 - - 1 - 0 N - - MT1F Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MT1H Gly17Ser G17S not reviewed Insufficiently evaluated not reviewed unknown Array rs9934181 370 10758 0.034393 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MT1M Thr20Lys T20K not reviewed Insufficiently evaluated not reviewed unknown Array rs1827210 8221 10758 0.764175 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MT4 Tyr30Cys Y30C not reviewed Insufficiently evaluated not reviewed unknown Array rs666636 9397 10192 0.921998 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MT4 Trp31Arg W31R not reviewed Insufficiently evaluated not reviewed unknown Array rs666647 9460 10156 0.931469 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MT4 Gly48Asp G48D not reviewed Insufficiently evaluated not reviewed unknown Array rs11643815 1033 10742 0.0961646 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.734 - - 4 Y 0 N - - MTA1 Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array rs4983413 1811 10756 0.168371 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MTA1 Ala612Thr A612T not reviewed Insufficiently evaluated not reviewed unknown Array rs13707 9110 10750 0.847442 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTAP Val56Ile V56I not reviewed Insufficiently evaluated not reviewed unknown Array rs7023954 4508 10758 0.419037 40 0 52 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - MTBP Tyr183Cys Y183C not reviewed Insufficiently evaluated not reviewed unknown Array 268 10754 0.024921 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTBP Thr441Ala T441A not reviewed Insufficiently evaluated not reviewed unknown Array rs73705079 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - MTCH1 Gly255Glu G255E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTCH2 Lys300Arg K300R not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MTCH2 Pro290Ala P290A not reviewed Insufficiently evaluated not reviewed unknown Array rs1064608 2853 10758 0.265198 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - MTCH2 Phe237Ser F237S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - MTCH2 Gly11Asp G11D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.386 - - 4 Y 1 N - - MTCH2 Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - MTDH Thr317Ala T317A not reviewed Insufficiently evaluated not reviewed unknown Array rs17854374 491 10758 0.0456405 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 1 - 4 - - MTERF Ala294Thr A294T not reviewed Insufficiently evaluated not reviewed unknown Array rs10266424 4336 10758 0.403049 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTERF Ala231Thr A231T not reviewed Insufficiently evaluated not reviewed unknown Array rs17856025 187 10758 0.0173824 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTERFD1 Pro118Gln P118Q not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 4 Y 1 N - - MTERFD2 Leu339Val L339V not reviewed Insufficiently evaluated not reviewed unknown Array rs2240539 22 128 0.171875 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MTERFD2 Met189Thr M189T not reviewed Insufficiently evaluated not reviewed unknown Array rs2286323 12 128 0.09375 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 1 N - - MTERFD3 Ala81Gly A81G not reviewed Insufficiently evaluated not reviewed unknown Array rs35548605 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - MTERFD3 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array rs35305400 259 10758 0.0240751 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTERFD3 Leu14Val L14V not reviewed Insufficiently evaluated not reviewed unknown Array rs34238336 192 10758 0.0178472 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - MTF2 Cys140Ser C140S not reviewed Insufficiently evaluated not reviewed unknown Array rs2815427 10747 10758 0.998977 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MTF2 Arg302Lys R302K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -3 - 2 N - - MTF2 Asn546Ser N546S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - MTFMT Val5Ala V5A not reviewed Insufficiently evaluated not reviewed unknown Array 199 5604 0.0355104 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - MTG1 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array rs2255246 10721 10758 0.996561 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MTHFD1 Lys134Arg K134R not reviewed Insufficiently evaluated not reviewed unknown Array rs1950902 8936 10758 0.830638 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MTHFD1 Arg653Gln R653Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2236225 4043 10758 0.375813 30 0 40 1 1 3 Y - - - - - - - - - - - Y - Y 0.008 - - 0 - 2 N - - MTHFD1 Leu769Phe L769F not reviewed Insufficiently evaluated not reviewed unknown Array rs17857382 369 10758 0.0343001 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - MTHFD1L Arg347Lys R347K not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MTHFD2 Thr187Asn T187N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 1 - 0 N - - MTHFR Glu429Ala E429A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801131 2748 10758 0.255438 17 0 20 4 4 - Y - - - - - - - - - - Y - - Y 0.099 Y - 3 - 3 N 10 - - MTHFR Ala222Val A222V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801133 2925 10758 0.271891 41 0 45 16 16 3 Y - - - - - - - - - - Y - Y Y 0.858 Y - 2 - 4 Y 9 - - this is a.k.a. C677T and Rs1801133. Modulates toxicity of methotrexate in patients. MTHFS Thr202Ala T202A not reviewed Insufficiently evaluated not reviewed unknown Array rs8923 900 10758 0.0836587 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTHFS Val195Leu V195L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.461 - - 0 - 1 N - - MTHFS Ile68Met I68M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - -1 - 1 N - - MTHFSD Gly295Arg G295R not reviewed Insufficiently evaluated not reviewed unknown Array rs3751803 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - MTHFSD Gly314Arg G314R not reviewed Insufficiently evaluated not reviewed unknown Array rs3751803 106 118 0.898305 49 0 90 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MTHFSD Gly315Arg G315R not reviewed Insufficiently evaluated not reviewed unknown Array rs3751803 8680 9622 0.902099 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MTHFSD Ser276Cys S276C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MTHFSD Ser295Cys S295C not reviewed Insufficiently evaluated not reviewed unknown Array rs3751802 28 110 0.254545 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MTHFSD Ser296Cys S296C not reviewed Insufficiently evaluated not reviewed unknown Array rs3751802 1452 9636 0.150685 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MTHFSD Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTHFSD Ala243Thr A243T not reviewed Insufficiently evaluated not reviewed unknown Array rs3751801 12 124 0.0967742 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTHFSD Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array 781 10256 0.0761505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTHFSD Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MTHFSD Arg242Cys R242C not reviewed Insufficiently evaluated not reviewed unknown Array rs3751800 12 126 0.0952381 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MTHFSD Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array 774 10278 0.0753065 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - MTIF2 Val556Ile V556I not reviewed Insufficiently evaluated not reviewed unknown Array rs11357 7467 10754 0.694346 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MTIF2 Val205Leu V205L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTIF2 Thr59Asn T59N not reviewed Insufficiently evaluated not reviewed unknown Array rs1056445 7456 10758 0.693066 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTIF3 Phe243Leu F243L not reviewed Insufficiently evaluated not reviewed unknown Array rs1218825 10143 10758 0.942833 51 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MTL5 Cys223Arg C223R not reviewed Insufficiently evaluated not reviewed unknown Array rs12365708 880 10756 0.0818148 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - MTMR1 Val661Ile V661I not reviewed Insufficiently evaluated not reviewed unknown Array 22 8758 0.00251199 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - MTMR10 Arg648His R648H not reviewed Insufficiently evaluated not reviewed unknown Array rs6493352 1805 10010 0.18032 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTMR11 Gln459Pro Q459P not reviewed Insufficiently evaluated not reviewed unknown Array rs16836857 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MTMR11 Gln531Pro Q531P not reviewed Insufficiently evaluated not reviewed unknown Array 217 10758 0.020171 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - MTMR11 Glu128Asp E128D not reviewed Insufficiently evaluated not reviewed unknown Array rs41302101 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTMR11 Glu200Asp E200D not reviewed Insufficiently evaluated not reviewed unknown Array 578 10758 0.0537275 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.574 - - -2 - 0 N - - MTMR11 Met159Val M159V not reviewed Insufficiently evaluated not reviewed unknown Array rs11205303 3143 10758 0.292155 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MTMR11 Met87Val M87V not reviewed Insufficiently evaluated not reviewed unknown Array rs11205303 32 128 0.25 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MTMR14 Leu520Val L520V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTMR14 Leu580Val L580V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTMR14 Leu632Val L632V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.264 - - 0 - 1 N - - MTMR15 Gly233Glu G233E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTMR15 Asp442Val D442V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MTMR15 Trp529Cys W529C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTMR15 Asp735Gly D735G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MTMR15 Pro757Leu P757L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTMR2 Asn473Ser N473S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MTMR2 Asn545Ser N545S pathogenic Insufficiently evaluated pathogenic recessive Array rs558018 145 10758 0.0134783 4 0 4 1 1 - - - - - - - - - - - - Y - - - - Y Y 0 - Charcot-Marie-Tooth Neuropathy Type 4 1 181 0 187 INF 4 - 1 - - This variant, present in all versions, was found in one patient with autosomal recessive Charcot-Marie-Tooth type 4B, but the compounding variant was not found. MTMR2 Lys3Thr K3T not reviewed Insufficiently evaluated not reviewed unknown Array rs3824874 2499 10404 0.240196 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - MTMR3 Asn960Ser N960S not reviewed Insufficiently evaluated not reviewed unknown Array rs41278853 906 10758 0.0842164 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.478 - - 0 - 0 N - - MTMR4 Gly742Ser G742S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTMR4 Val297Gly V297G not reviewed Insufficiently evaluated not reviewed unknown Array rs2302189 3648 10756 0.33916 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.572 - - 8 Y 0 N - - MTMR4 Ser280Gly S280G not reviewed Insufficiently evaluated not reviewed unknown Array rs2302190 3040 10758 0.28258 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MTMR4 Leu170Val L170V not reviewed Insufficiently evaluated not reviewed unknown Array rs3744108 3651 10758 0.339375 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MTMR6 Met365Val M365V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MTMR6 Ile319Val I319V not reviewed Insufficiently evaluated not reviewed unknown Array rs7995033 6784 10758 0.630601 38 0 61 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MTMR6 Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array rs34885345 266 10758 0.0247258 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTMR6 Val69Leu V69L not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MTMR7 Gln559His Q559H not reviewed Insufficiently evaluated not reviewed unknown Array rs3764796 880 10758 0.0817996 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 2 - - MTMR7 Pro44Ala P44A not reviewed Insufficiently evaluated not reviewed unknown Array rs7388581 10647 10758 0.989682 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MTMR8 Leu670Met L670M not reviewed Insufficiently evaluated not reviewed unknown Array 23 8760 0.00262557 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MTMR8 Asn669Lys N669K not reviewed Insufficiently evaluated not reviewed unknown Array 24 8760 0.00273973 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTNR1A Phe277Val F277V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 3 - 2 N - - MTNR1A Ala266Val A266V not reviewed Insufficiently evaluated not reviewed unknown Array rs28383652 259 10758 0.0240751 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTNR1A Gly166Glu G166E not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 6 Y 1 - 4 - - MTNR1B Gly24Glu G24E not reviewed Insufficiently evaluated not reviewed unknown Array rs8192552 791 10466 0.0755781 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - MTNR1B Lys243Arg K243R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747139 1100 10758 0.102249 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MTOR Ala1748Pro A1748P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 2 - 2 N - - MTP18 Pro96Ala P96A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTPAP Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - MTPAP Arg162Cys R162C not reviewed Insufficiently evaluated not reviewed unknown Array rs1047991 2789 10758 0.259249 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MTPAP Gln128Lys Q128K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - MTR Arg52Gln R52Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12749581 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.136 Y Y 0 - 3 - 6 - - MTR Asp919Gly D919G protective Low clinical importance, Uncertain protective other Array rs1805087 2337 10758 0.217234 17 0 19 4 4 2 Y - - 2 Y - - 4 Y 3 Y Y - - Y 0.777 Y Y 4 Y 4 N 9 0 0 This variant was weakly associated with a protective effect vs. colorectal cancer, but only in individuals with low alcohol consumption. MTR Arg1164His R1164H not reviewed Insufficiently evaluated not reviewed unknown Array rs61736326 192 10754 0.0178538 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - MTRF1 Asn2Ser N2S not reviewed Insufficiently evaluated not reviewed unknown Array rs9532758 1031 10758 0.0958357 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MTRF1L Val214Ile V214I not reviewed Insufficiently evaluated not reviewed unknown Array rs3192723 2181 10758 0.202733 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MTRF1L Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3818123 7451 10758 0.692601 48 0 74 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - MTRF1L Thr38Ala T38A not reviewed Insufficiently evaluated not reviewed unknown Array rs3818125 5645 9014 0.626248 39 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTRF1L Trp12Leu W12L not reviewed Insufficiently evaluated not reviewed unknown Array 1 6090 0.000164203 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.533 - - 5 Y 1 N - - MTRR Ile22Met I22M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 2 2 1 Y - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 9 - - MTRR Ile49Met I49M pathogenic Low clinical importance, Likely pathogenic recessive Array rs1801394 4854 10758 0.451199 33 0 43 7 7 3 Y - - 3 Y 0 - 4 Y 2 Y Y - - Y - Y Y -1 - 4 N 5 0 1 This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V. MTRR Ser175Leu S175L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 9 - - MTRR Ser202Leu S202L not reviewed Insufficiently evaluated not reviewed unknown Array rs1532268 3533 10758 0.328407 24 0 26 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 2 - - MTRR Ser257Thr S257T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 10 - - MTRR Ser284Thr S284T benign Insufficiently evaluated benign unknown Array rs2303080 228 10758 0.0211935 8 0 8 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 4 - 3 - - While other variants in MTRR are associated with homocystinuria (among other diseases), GeneDx classifies this variant in ClinVar as probably benign. MTRR Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MTRR Thr313Met T313M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MTRR Tyr307Cys Y307C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MTRR Tyr334Cys Y334C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MTRR Leu333Val L333V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - MTRR Leu360Val L360V not reviewed Insufficiently evaluated not reviewed unknown Array rs10064631 538 10758 0.0500093 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - MTRR Val341Ile V341I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MTRR Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MTRR Lys350Arg K350R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 4 - 10 - - MTRR Lys377Arg K377R not reviewed Insufficiently evaluated not reviewed unknown Array rs162036 2235 10758 0.207752 25 0 29 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - MTRR Arg415Cys R415C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 5 - - MTRR Arg442Cys R442C not reviewed Insufficiently evaluated not reviewed unknown Array rs2287780 297 10758 0.0276074 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - MTRR Pro450Arg P450R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 8 - - MTRR Pro477Arg P477R not reviewed Insufficiently evaluated not reviewed unknown Array rs16879334 247 10756 0.0229639 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - MTRR His595Tyr H595Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 10 - - MTRR His622Tyr H622Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10380 1876 10758 0.174382 19 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - MTRR Gln626Stop Q626X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - MTRR Gln653Stop Q653X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - MTSS1 Thr725Ala T725A not reviewed Insufficiently evaluated not reviewed unknown Array rs3829037 2012 10758 0.187024 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTSS1L Met605Leu M605L not reviewed Insufficiently evaluated not reviewed unknown Array 242 10612 0.0228044 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MTSS1L Ala577Val A577V not reviewed Insufficiently evaluated not reviewed unknown Array 88 10678 0.00824124 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MTTP Asp53Glu D53E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.253 - - -2 - 1 N - - MTTP Glu98Asp E98D not reviewed Insufficiently evaluated not reviewed unknown Array rs2306986 959 10754 0.0891761 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MTTP Ile128Thr I128T not reviewed Insufficiently evaluated not reviewed unknown Array rs3816873 2862 10754 0.266134 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MTTP Asn166Ser N166S not reviewed Insufficiently evaluated not reviewed unknown Array rs3792683 922 10758 0.0857037 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - MTTP His297Gln H297Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2306985 5322 10758 0.494702 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MTTP Asp384Ala D384A benign Insufficiently evaluated benign recessive Array rs17029215 846 10758 0.0786391 5 0 5 3 1 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - This variant was found in an individual with familial hypobetalipoproteinemia as part of a compound heterozygote with G661A and with a background of homozygosity for ApoE2. MTTP Gly661Ser G661S not reviewed Insufficiently evaluated not reviewed unknown Array rs113337987 290 10758 0.0269567 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTUS1 Ile14Val I14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MTUS1 Lys453Thr K453T not reviewed Insufficiently evaluated not reviewed unknown Array rs17690844 656 9710 0.0675592 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MTUS1 Met418Arg M418R not reviewed Insufficiently evaluated not reviewed unknown Array 219 9758 0.0224431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 4 Y 2 N - - MTUS1 Thr207Ala T207A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733698 234 9838 0.0237853 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - MTUS1 Ala149Thr A149T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733701 283 9994 0.028317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTUS1 Cys148Arg C148R not reviewed Insufficiently evaluated not reviewed unknown Array rs3739407 7285 9978 0.730106 48 0 76 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 1 N - - MTUS1 Gln75Lys Q75K not reviewed Insufficiently evaluated not reviewed unknown Array rs61733703 99 9602 0.0103104 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 1 N - - MTX1 Thr63Ser T63S not reviewed Insufficiently evaluated not reviewed unknown Array rs760077 6678 10552 0.632866 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MTX3 Ser238Arg S238R not reviewed Insufficiently evaluated not reviewed unknown Array rs9293796 1072 9672 0.110835 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MTX3 Arg50Lys R50K not reviewed Insufficiently evaluated not reviewed unknown Array rs61998228 203 9576 0.0211988 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC13 Arg502Ser R502S not reviewed Insufficiently evaluated not reviewed unknown Array rs1127233 2842 10758 0.264176 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MUC13 Pro386Leu P386L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 7 Y 1 N - - MUC13 Ile99Thr I99T not reviewed Insufficiently evaluated not reviewed unknown Array rs4679392 4645 10758 0.431772 36 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC13 Phe62Ser F62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC13 Pro61Ser P61S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC13 Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array rs4679394 1245 10758 0.115728 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MUC15 Thr202Ile T202I not reviewed Insufficiently evaluated not reviewed unknown Array rs15783 77 128 0.601562 40 0 61 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - MUC15 Thr229Ile T229I not reviewed Insufficiently evaluated not reviewed unknown Array rs15783 6485 10758 0.602807 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC15 Asn139Ser N139S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - MUC15 Asn166Ser N166S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Val14466Leu V14466L not reviewed Insufficiently evaluated not reviewed unknown Array rs1035442 9308 10056 0.925617 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Ser14437Phe S14437F not reviewed Insufficiently evaluated not reviewed unknown Array 253 9154 0.0276382 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Tyr14334His Y14334H not reviewed Insufficiently evaluated not reviewed unknown Array 47 10066 0.00466918 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Tyr14238Cys Y14238C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Gln13957Lys Q13957K not reviewed Insufficiently evaluated not reviewed unknown Array rs3764556 3697 10468 0.353172 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Glu13891Stop E13891X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MUC16 Thr13585Ser T13585S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10328 0.00145236 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Gln13566Arg Q13566R not reviewed Insufficiently evaluated not reviewed unknown Array 265 10102 0.0262324 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Met13472Thr M13472T not reviewed Insufficiently evaluated not reviewed unknown Array rs12976122 6485 10038 0.646045 45 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Arg13341His R13341H not reviewed Insufficiently evaluated not reviewed unknown Array rs11085776 6918 10182 0.679434 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Thr13332Ile T13332I not reviewed Insufficiently evaluated not reviewed unknown Array rs11085777 3131 10146 0.308595 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 His13264Asn H13264N not reviewed Insufficiently evaluated not reviewed unknown Array 233 10188 0.02287 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Ser13197Arg S13197R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Ile13194Thr I13194T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Val13167Met V13167M not reviewed Insufficiently evaluated not reviewed unknown Array 2081 9864 0.210969 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Ile13066Thr I13066T not reviewed Insufficiently evaluated not reviewed unknown Array rs73005882 32 9970 0.00320963 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Ser12514Thr S12514T not reviewed Insufficiently evaluated not reviewed unknown Array rs12981679 7295 9924 0.735087 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Glu12448Lys E12448K not reviewed Insufficiently evaluated not reviewed unknown Array rs11882881 781 9790 0.0797753 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Thr12431Ser T12431S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Glu12331Lys E12331K not reviewed Insufficiently evaluated not reviewed unknown Array rs62118272 802 10006 0.0801519 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 His12304Leu H12304L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9808 0.000101957 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Glu12290Lys E12290K not reviewed Insufficiently evaluated not reviewed unknown Array rs67631215 3250 9616 0.337978 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Thr12140Met T12140M not reviewed Insufficiently evaluated not reviewed unknown Array rs56396897 2557 10462 0.244408 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Ser11585Arg S11585R not reviewed Insufficiently evaluated not reviewed unknown Array rs4804378 1464 9996 0.146459 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Gly11455Asp G11455D not reviewed Insufficiently evaluated not reviewed unknown Array rs10410169 2647 10108 0.261872 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC16 Ala11199Gly A11199G not reviewed Insufficiently evaluated not reviewed unknown Array rs10417358 2635 9936 0.265197 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Thr11179Ser T11179S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Ser11154Phe S11154F not reviewed Insufficiently evaluated not reviewed unknown Array rs10417600 2617 9796 0.26715 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC16 Ser11104Asn S11104N not reviewed Insufficiently evaluated not reviewed unknown Array rs56334501 1462 9830 0.148728 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Val11097Met V11097M not reviewed Insufficiently evaluated not reviewed unknown Array rs10854118 3960 9830 0.402848 42 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Ser10912Arg S10912R not reviewed Insufficiently evaluated not reviewed unknown Array rs2012761 946 9788 0.096649 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Pro10828Ser P10828S not reviewed Insufficiently evaluated not reviewed unknown Array rs12461007 2637 9968 0.264547 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Pro10668Thr P10668T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Arg10574His R10574H not reviewed Insufficiently evaluated not reviewed unknown Array rs56307190 1453 9696 0.149856 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Phe10169Leu F10169L not reviewed Insufficiently evaluated not reviewed unknown Array rs10410136 2600 9926 0.261938 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Thr10155Ile T10155I not reviewed Insufficiently evaluated not reviewed unknown Array rs11670318 2733 9858 0.277237 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Glu10153Gln E10153Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4804381 1472 9836 0.149654 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Leu10013Pro L10013P not reviewed Insufficiently evaluated not reviewed unknown Array rs1423051 9306 9868 0.943048 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC16 Ile9920Thr I9920T not reviewed Insufficiently evaluated not reviewed unknown Array rs1895364 8934 10048 0.889132 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Val9909Ile V9909I not reviewed Insufficiently evaluated not reviewed unknown Array rs2216662 4136 9950 0.415678 34 0 41 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC16 Tyr9899Phe Y9899F not reviewed Insufficiently evaluated not reviewed unknown Array rs12982113 3026 9898 0.305718 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC16 Asp9850Glu D9850E not reviewed Insufficiently evaluated not reviewed unknown Array rs12984471 3058 10140 0.301578 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Pro9608Ser P9608S not reviewed Insufficiently evaluated not reviewed unknown Array rs11878666 1568 10130 0.154788 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 His9513Gln H9513Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1833777 3730 10032 0.37181 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC16 Ala9502Thr A9502T not reviewed Insufficiently evaluated not reviewed unknown Array rs1833778 4228 10046 0.420864 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Lys9429Asn K9429N not reviewed Insufficiently evaluated not reviewed unknown Array rs12462651 863 10126 0.0852261 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Pro9422Leu P9422L not reviewed Insufficiently evaluated not reviewed unknown Array rs12459532 165 10146 0.0162626 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Gln9405Arg Q9405R not reviewed Insufficiently evaluated not reviewed unknown Array rs12710265 2805 10112 0.277393 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Gly9380Asp G9380D not reviewed Insufficiently evaluated not reviewed unknown Array rs12461695 848 10000 0.0848 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC16 Ile9213Thr I9213T not reviewed Insufficiently evaluated not reviewed unknown Array rs7508222 8860 9998 0.886177 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Asp9129Glu D9129E not reviewed Insufficiently evaluated not reviewed unknown Array rs12977368 2764 10044 0.275189 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Ala9121Thr A9121T not reviewed Insufficiently evaluated not reviewed unknown Array rs4804382 1568 9938 0.157778 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Val8969Met V8969M not reviewed Insufficiently evaluated not reviewed unknown Array rs11882256 2832 10038 0.282128 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Arg8844His R8844H not reviewed Insufficiently evaluated not reviewed unknown Array rs59168469 174 10174 0.0171024 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Pro8789Arg P8789R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10056 0.000994431 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Asp8344Ala D8344A not reviewed Insufficiently evaluated not reviewed unknown Array rs12978757 6202 10390 0.59692 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC16 Asn8301Thr N8301T not reviewed Insufficiently evaluated not reviewed unknown Array rs2547063 8944 9938 0.89998 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Ile8200Thr I8200T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10196 0.000980776 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Asp7923Ala D7923A not reviewed Insufficiently evaluated not reviewed unknown Array rs2547064 2314 10246 0.225844 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC16 Ser7415Gly S7415G not reviewed Insufficiently evaluated not reviewed unknown Array rs62118307 1041 10130 0.102764 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Thr7354Ala T7354A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Ile7272Val I7272V not reviewed Insufficiently evaluated not reviewed unknown Array rs1867691 2312 10096 0.229002 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC16 Thr7063Ala T7063A not reviewed Insufficiently evaluated not reviewed unknown Array rs17000770 3735 10006 0.373276 36 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Pro6858Thr P6858T not reviewed Insufficiently evaluated not reviewed unknown Array rs12609150 1592 10228 0.155651 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC16 Ser6504Tyr S6504Y not reviewed Insufficiently evaluated not reviewed unknown Array 32 9862 0.00324478 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Ser6358Pro S6358P not reviewed Insufficiently evaluated not reviewed unknown Array rs61732552 214 9742 0.0219667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Val6306Met V6306M not reviewed Insufficiently evaluated not reviewed unknown Array rs7250080 1262 10088 0.125099 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 His6152Gln H6152Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35092547 213 10434 0.020414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Ser5885Phe S5885F not reviewed Insufficiently evaluated not reviewed unknown Array rs1862458 1560 9968 0.156501 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC16 Phe5852Val F5852V not reviewed Insufficiently evaluated not reviewed unknown Array rs1862460 2047 9812 0.208622 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Ile5751Thr I5751T not reviewed Insufficiently evaluated not reviewed unknown Array rs1344572 9818 10224 0.96029 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 His5741Asp H5741D not reviewed Insufficiently evaluated not reviewed unknown Array rs1559172 8547 10310 0.829001 53 0 88 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Pro5682Thr P5682T not reviewed Insufficiently evaluated not reviewed unknown Array rs12150888 2410 10076 0.239182 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC16 Pro5537Ser P5537S not reviewed Insufficiently evaluated not reviewed unknown Array rs2547067 8372 9998 0.837367 54 0 91 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Gly5295Glu G5295E not reviewed Insufficiently evaluated not reviewed unknown Array 220 10136 0.0217048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Asn5228Ile N5228I not reviewed Insufficiently evaluated not reviewed unknown Array rs10422567 8341 9968 0.836778 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC16 Thr5177Ile T5177I not reviewed Insufficiently evaluated not reviewed unknown Array rs35346115 217 10052 0.0215877 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr5159Asn T5159N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Ser5045Pro S5045P not reviewed Insufficiently evaluated not reviewed unknown Array rs2121133 2256 9922 0.227374 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Ile4902Val I4902V not reviewed Insufficiently evaluated not reviewed unknown Array rs2591590 2311 10370 0.222854 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC16 Thr4824Met T4824M not reviewed Insufficiently evaluated not reviewed unknown Array rs17000816 1285 10316 0.124564 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Ala4520Thr A4520T not reviewed Insufficiently evaluated not reviewed unknown Array 245 9924 0.0246876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Pro4458Leu P4458L not reviewed Insufficiently evaluated not reviewed unknown Array rs72486387 1262 10188 0.123871 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC16 Thr4394Ile T4394I not reviewed Insufficiently evaluated not reviewed unknown Array rs10406209 2393 10212 0.234332 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 His4166Asn H4166N not reviewed Insufficiently evaluated not reviewed unknown Array rs2591591 2537 9994 0.253852 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Pro4142Leu P4142L not reviewed Insufficiently evaluated not reviewed unknown Array rs17000819 20 10160 0.0019685 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Thr4077Ser T4077S not reviewed Insufficiently evaluated not reviewed unknown Array rs2547068 2567 9946 0.258094 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Ile4034Phe I4034F not reviewed Insufficiently evaluated not reviewed unknown Array rs2591592 5511 10068 0.547378 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Glu3961Lys E3961K not reviewed Insufficiently evaluated not reviewed unknown Array rs17000836 1070 10266 0.104228 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Gly3826Glu G3826E not reviewed Insufficiently evaluated not reviewed unknown Array rs2591593 2674 10268 0.260421 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC16 Thr3788Ile T3788I not reviewed Insufficiently evaluated not reviewed unknown Array rs2547072 2658 10256 0.259165 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Thr3723Met T3723M not reviewed Insufficiently evaluated not reviewed unknown Array rs953551 2790 10026 0.278276 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Arg3573His R3573H not reviewed Insufficiently evaluated not reviewed unknown Array rs2591594 2732 10422 0.262138 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Val3530Ile V3530I not reviewed Insufficiently evaluated not reviewed unknown Array rs2547074 2763 10462 0.264099 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC16 Lys3506Thr K3506T not reviewed Insufficiently evaluated not reviewed unknown Array rs2547075 2733 10418 0.262334 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Arg3499Met R3499M not reviewed Insufficiently evaluated not reviewed unknown Array rs2547076 2717 10340 0.262766 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC16 Arg3417Gln R3417Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7254941 829 10162 0.0815784 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 His3359Gln H3359Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Ser3337Leu S3337L not reviewed Insufficiently evaluated not reviewed unknown Array rs1862462 2622 9966 0.263095 30 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC16 Pro3289Thr P3289T not reviewed Insufficiently evaluated not reviewed unknown Array rs73011014 1268 10180 0.124558 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC16 Ser3215Gly S3215G not reviewed Insufficiently evaluated not reviewed unknown Array rs2591597 2585 9878 0.261693 30 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC16 Ser3190Thr S3190T not reviewed Insufficiently evaluated not reviewed unknown Array rs2547065 5592 9800 0.570612 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC16 Ala3101Ser A3101S not reviewed Insufficiently evaluated not reviewed unknown Array rs17000871 1232 9922 0.124169 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC16 Thr2891Ile T2891I not reviewed Insufficiently evaluated not reviewed unknown Array rs7245949 3028 9782 0.309548 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Pro2881Ser P2881S not reviewed Insufficiently evaluated not reviewed unknown Array rs7245960 3048 9884 0.308377 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Met2786Ile M2786I not reviewed Insufficiently evaluated not reviewed unknown Array rs17000886 1442 9850 0.146396 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC16 Ser2675Leu S2675L not reviewed Insufficiently evaluated not reviewed unknown Array rs60106152 1031 9996 0.103141 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC16 Thr2506Ala T2506A not reviewed Insufficiently evaluated not reviewed unknown Array rs1609458 4846 10692 0.453236 32 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Thr2271Ala T2271A not reviewed Insufficiently evaluated not reviewed unknown Array rs11085805 1425 9810 0.14526 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Ser2058Pro S2058P not reviewed Insufficiently evaluated not reviewed unknown Array rs1574479 1445 10012 0.144327 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Ser1953Pro S1953P not reviewed Insufficiently evaluated not reviewed unknown Array rs1108380 1072 10362 0.103455 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Tyr1898Asp Y1898D not reviewed Insufficiently evaluated not reviewed unknown Array rs10402812 3067 9910 0.309485 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC16 Asn1890Lys N1890K not reviewed Insufficiently evaluated not reviewed unknown Array rs45611441 699 9918 0.0704779 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Leu1833Phe L1833F not reviewed Insufficiently evaluated not reviewed unknown Array rs4520945 1434 9988 0.143572 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC16 Lys1400Asn K1400N not reviewed Insufficiently evaluated not reviewed unknown Array rs1596798 10433 10436 0.999713 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 His1353Tyr H1353Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12611293 1543 10742 0.143642 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC16 Gly1302Glu G1302E not reviewed Insufficiently evaluated not reviewed unknown Array rs73495784 105 10184 0.0103103 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Lys1266Asn K1266N not reviewed Insufficiently evaluated not reviewed unknown Array rs1596797 8034 10428 0.770426 53 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Thr1162Ile T1162I not reviewed Insufficiently evaluated not reviewed unknown Array rs17000947 1470 10420 0.141075 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC16 Arg1015Gly R1015G not reviewed Insufficiently evaluated not reviewed unknown Array rs17000950 1443 10014 0.144098 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC16 Ser634Phe S634F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Thr545Ala T545A not reviewed Insufficiently evaluated not reviewed unknown Array rs17000957 1074 10248 0.104801 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC16 Arg344Lys R344K not reviewed Insufficiently evaluated not reviewed unknown Array rs73495785 1192 10234 0.116474 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MUC17 Gly144Asp G144D not reviewed Insufficiently evaluated not reviewed unknown Array 304 10758 0.028258 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Lys227Gln K227Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10229731 1919 10758 0.178379 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC17 Gly272Glu G272E not reviewed Insufficiently evaluated not reviewed unknown Array rs10259584 1614 10758 0.150028 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC17 Thr339Met T339M not reviewed Insufficiently evaluated not reviewed unknown Array rs4729645 20 10758 0.00185908 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Ala427Thr A427T not reviewed Insufficiently evaluated not reviewed unknown Array rs56103274 4124 10758 0.383343 32 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC17 Pro571Leu P571L not reviewed Insufficiently evaluated not reviewed unknown Array rs34834039 1451 10758 0.134876 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC17 Ser706Asn S706N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Thr707Ser T707S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 Val713Ala V713A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Asp714Val D714V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC17 Ala735Thr A735T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Pro738Gln P738Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Ser743Arg S743R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Met752Leu M752L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC17 Ser765Asn S765N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Thr838Ile T838I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Ser861Thr S861T not reviewed Insufficiently evaluated not reviewed unknown Array 1335 10758 0.124094 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC17 Gly863Glu G863E not reviewed Insufficiently evaluated not reviewed unknown Array 354 10758 0.0329057 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC17 Val872Ile V872I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC17 Gly920Arg G920R not reviewed Insufficiently evaluated not reviewed unknown Array rs61075804 1498 10758 0.139245 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC17 Arg942Ser R942S not reviewed Insufficiently evaluated not reviewed unknown Array rs10238201 415 10758 0.0385759 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Leu1003Phe L1003F not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - MUC17 Thr1006Ile T1006I not reviewed Insufficiently evaluated not reviewed unknown Array 1303 10758 0.121119 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.31 - - 3 - 0 N - - MUC17 Ser1010Thr S1010T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - MUC17 Asn1011Ser N1011S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - MUC17 Gly1040Glu G1040E not reviewed Insufficiently evaluated not reviewed unknown Array 826 10758 0.0767801 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 1 N - - MUC17 Pro1066Thr P1066T not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - MUC17 Ser1083Pro S1083P not reviewed Insufficiently evaluated not reviewed unknown Array rs10264727 1693 10758 0.157371 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - MUC17 Ser1097Arg S1097R not reviewed Insufficiently evaluated not reviewed unknown Array rs11769696 1417 10758 0.131716 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.897 - - 3 - 1 N - - MUC17 Val1106Met V1106M not reviewed Insufficiently evaluated not reviewed unknown Array 642 10758 0.0596765 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - MUC17 Ile1130Thr I1130T not reviewed Insufficiently evaluated not reviewed unknown Array rs4729647 9929 10752 0.923456 45 0 85 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - MUC17 Thr1159Ile T1159I not reviewed Insufficiently evaluated not reviewed unknown Array 291 10758 0.0270496 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.947 - - 3 - 2 N - - MUC17 Pro1225Ser P1225S not reviewed Insufficiently evaluated not reviewed unknown Array 434 10758 0.0403421 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Ser1242Thr S1242T not reviewed Insufficiently evaluated not reviewed unknown Array rs10265276 1914 10758 0.177914 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC17 Thr1256Ile T1256I not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Ser1277Ile S1277I not reviewed Insufficiently evaluated not reviewed unknown Array rs73402889 1056 10758 0.0981595 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC17 Thr1288Lys T1288K not reviewed Insufficiently evaluated not reviewed unknown Array 1085 10758 0.100855 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC17 Thr1291Ser T1291S not reviewed Insufficiently evaluated not reviewed unknown Array 1427 10758 0.132645 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC17 Thr1305Ser T1305S not reviewed Insufficiently evaluated not reviewed unknown Array 858 10758 0.0797546 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC17 Gly1307Ser G1307S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Val1309Met V1309M not reviewed Insufficiently evaluated not reviewed unknown Array 712 10758 0.0661833 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC17 Leu1348Pro L1348P not reviewed Insufficiently evaluated not reviewed unknown Array rs4269454 1933 10758 0.17968 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC17 Cys1375Arg C1375R not reviewed Insufficiently evaluated not reviewed unknown Array rs4367469 1903 10758 0.176892 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MUC17 Asn1390Thr N1390T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Ile1443Val I1443V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC17 Val1480Ala V1480A not reviewed Insufficiently evaluated not reviewed unknown Array rs7780935 1562 10754 0.145248 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC17 Ile1531Thr I1531T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 1 N - - MUC17 Thr1557Ala T1557A not reviewed Insufficiently evaluated not reviewed unknown Array rs74209688 2150 10758 0.199851 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC17 Thr1573Ala T1573A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Thr1686Ser T1686S not reviewed Insufficiently evaluated not reviewed unknown Array rs4992072 142 10758 0.0131995 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 Gly1688Glu G1688E not reviewed Insufficiently evaluated not reviewed unknown Array rs73168394 47 10758 0.00436884 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC17 Asn1717Thr N1717T not reviewed Insufficiently evaluated not reviewed unknown Array rs66496833 7 94 0.0744681 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC17 Thr1723Asn T1723N not reviewed Insufficiently evaluated not reviewed unknown Array rs71557228 7 92 0.076087 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC17 Ser1812Asn S1812N not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Pro1814Ser P1814S not reviewed Insufficiently evaluated not reviewed unknown Array rs73712042 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Ala1880Val A1880V not reviewed Insufficiently evaluated not reviewed unknown Array 573 10758 0.0532627 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC17 Glu1942Lys E1942K not reviewed Insufficiently evaluated not reviewed unknown Array rs73712043 386 10758 0.0358803 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Ala2081Asp A2081D not reviewed Insufficiently evaluated not reviewed unknown Array rs67473810 1453 10758 0.135062 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC17 Ala2096Thr A2096T not reviewed Insufficiently evaluated not reviewed unknown Array rs28593004 1863 10758 0.173173 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC17 Arg2159Gly R2159G not reviewed Insufficiently evaluated not reviewed unknown Array rs61382267 1931 10758 0.179494 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC17 Pro2221Arg P2221R not reviewed Insufficiently evaluated not reviewed unknown Array rs60369600 6611 10758 0.614519 44 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC17 Ser2352Gly S2352G not reviewed Insufficiently evaluated not reviewed unknown Array rs73712044 360 10758 0.0334635 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Ile2780Thr I2780T not reviewed Insufficiently evaluated not reviewed unknown Array 458 10758 0.042573 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Ser2785Ala S2785A not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC17 Thr2820Met T2820M not reviewed Insufficiently evaluated not reviewed unknown Array 535 10758 0.0497304 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Thr3056Met T3056M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Asp3072Val D3072V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC17 Thr3099Asn T3099N not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Pro3159Ser P3159S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Thr3206Ala T3206A not reviewed Insufficiently evaluated not reviewed unknown Array rs73712047 181 10758 0.0168247 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Ser3285Gly S3285G not reviewed Insufficiently evaluated not reviewed unknown Array rs35090328 1161 10758 0.10792 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC17 Ser3299Asn S3299N not reviewed Insufficiently evaluated not reviewed unknown Array rs35988443 1328 10758 0.123443 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC17 Ala3318Gly A3318G not reviewed Insufficiently evaluated not reviewed unknown Array rs59785679 342 10758 0.0317903 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Gly3932Arg G3932R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC17 Asp4312Asn D4312N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC17 Arg4333Gln R4333Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73168398 1158 10758 0.107641 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC17 Asp4334Asn D4334N not reviewed Insufficiently evaluated not reviewed unknown Array rs6946812 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - MUC2 Leu58Pro L58P not reviewed Insufficiently evaluated not reviewed unknown Array rs2856111 2020 10290 0.196307 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC2 Val116Met V116M not reviewed Insufficiently evaluated not reviewed unknown Array rs11825977 2084 10024 0.207901 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC2 Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array 133 10304 0.0129076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC2 Glu371Lys E371K not reviewed Insufficiently evaluated not reviewed unknown Array rs41521547 740 10338 0.0715806 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC2 Val457Ala V457A not reviewed Insufficiently evaluated not reviewed unknown Array rs41411848 2621 9962 0.2631 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC2 Glu470Gln E470Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41345745 2622 10036 0.261259 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC2 Ser562Thr S562T not reviewed Insufficiently evaluated not reviewed unknown Array rs57737240 2705 10200 0.265196 32 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC2 Lys592Gln K592Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11827830 290 9710 0.0298661 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Gly832Ser G832S not reviewed Insufficiently evaluated not reviewed unknown Array rs11245936 762 10500 0.0725714 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC2 Arg1043Cys R1043C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10322 0.00019376 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC2 Thr1207Ile T1207I not reviewed Insufficiently evaluated not reviewed unknown Array rs41389046 835 10350 0.0806763 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC2 Pro1440Ser P1440S not reviewed Insufficiently evaluated not reviewed unknown Array 7 7802 0.000897205 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC2 Thr1445Met T1445M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Pro1449Ser P1449S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC2 Pro1456Ser P1456S not reviewed Insufficiently evaluated not reviewed unknown Array 4 7836 0.000510464 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC2 Ser1459Thr S1459T not reviewed Insufficiently evaluated not reviewed unknown Array 713 7804 0.0913634 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC2 Thr1488Pro T1488P not reviewed Insufficiently evaluated not reviewed unknown Array 188 8354 0.0225042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Ala1512Thr A1512T not reviewed Insufficiently evaluated not reviewed unknown Array rs62637243 8 16 0.5 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC2 Thr1527Pro T1527P not reviewed Insufficiently evaluated not reviewed unknown Array 6 12 0.5 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC2 Pro1533Leu P1533L not reviewed Insufficiently evaluated not reviewed unknown Array 6 8074 0.000743126 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC2 Thr1555Ile T1555I not reviewed Insufficiently evaluated not reviewed unknown Array 74 9368 0.00789923 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC2 Thr1564Ser T1564S not reviewed Insufficiently evaluated not reviewed unknown Array rs56219745 3 6 0.5 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC2 Ser1583Thr S1583T not reviewed Insufficiently evaluated not reviewed unknown Array 13 9476 0.00137189 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Thr1587Ser T1587S not reviewed Insufficiently evaluated not reviewed unknown Array 47 9276 0.00506684 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Thr1606Pro T1606P not reviewed Insufficiently evaluated not reviewed unknown Array 148 8978 0.0164847 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Thr1626Ala T1626A not reviewed Insufficiently evaluated not reviewed unknown Array rs11245947 5739 9348 0.613928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC2 Pro1629Thr P1629T not reviewed Insufficiently evaluated not reviewed unknown Array 537 9332 0.0575439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC2 Ser1725Thr S1725T not reviewed Insufficiently evaluated not reviewed unknown Array 327 9788 0.0334083 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Thr1728Ser T1728S not reviewed Insufficiently evaluated not reviewed unknown Array 1200 9828 0.1221 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC2 Thr1744Pro T1744P not reviewed Insufficiently evaluated not reviewed unknown Array 67 10014 0.00669063 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Thr1744Ser T1744S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Thr1744Met T1744M not reviewed Insufficiently evaluated not reviewed unknown Array 1848 10028 0.184284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC2 Thr1748Ser T1748S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10108 0.00286901 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Ser1784Gly S1784G not reviewed Insufficiently evaluated not reviewed unknown Array rs56104295 224 10608 0.0211161 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Lys1786Gln K1786Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 10622 0.00433063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Val1790Leu V1790L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10656 0.00947823 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC2 Ala1801Pro A1801P not reviewed Insufficiently evaluated not reviewed unknown Array rs55641679 458 10654 0.0429885 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Gly1807Ser G1807S not reviewed Insufficiently evaluated not reviewed unknown Array 295 10692 0.0275907 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Gly2040Asp G2040D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Gln2180Lys Q2180K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Ser2489Gly S2489G not reviewed Insufficiently evaluated not reviewed unknown Array rs11245954 919 10424 0.0881619 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC20 Cys3Ser C3S not reviewed Insufficiently evaluated not reviewed unknown Array rs7627924 4090 9876 0.414135 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC20 Arg101Gly R101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC20 Arg136Gly R136G not reviewed Insufficiently evaluated not reviewed unknown Array 4876 10000 0.4876 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC20 Arg101Lys R101K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC20 Arg136Lys R136K not reviewed Insufficiently evaluated not reviewed unknown Array 5731 10010 0.572527 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MUC20 Ser113Ile S113I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC20 Ser148Ile S148I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10202 0.000294059 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC20 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC20 Ile258Val I258V not reviewed Insufficiently evaluated not reviewed unknown Array rs56769649 511 9618 0.0531295 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC20 Asp287His D287H not reviewed Insufficiently evaluated not reviewed unknown Array rs2688542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Asp322His D322H not reviewed Insufficiently evaluated not reviewed unknown Array rs2688542 6124 10670 0.573946 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC20 Ala299Thr A299T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC20 Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array rs9866681 890 10608 0.0838989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC20 Thr300Ile T300I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Thr335Ile T335I not reviewed Insufficiently evaluated not reviewed unknown Array rs3828411 871 10580 0.0823251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC20 Gly308Arg G308R not reviewed Insufficiently evaluated not reviewed unknown Array rs3828410 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC20 Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array rs3828410 1555 10454 0.148747 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC20 Ala374Thr A374T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC20 Ala409Thr A409T not reviewed Insufficiently evaluated not reviewed unknown Array 186 10204 0.0182281 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC20 Pro384Leu P384L not reviewed Insufficiently evaluated not reviewed unknown Array rs3828408 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC20 Pro419Leu P419L not reviewed Insufficiently evaluated not reviewed unknown Array rs3828408 2787 10202 0.273182 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC20 Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array rs3828406 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC20 Ala424Thr A424T not reviewed Insufficiently evaluated not reviewed unknown Array rs3828406 3364 10262 0.327811 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC20 Pro444Leu P444L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC20 Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array 163 10308 0.015813 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - MUC20 Val448Met V448M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC20 Val483Met V483M not reviewed Insufficiently evaluated not reviewed unknown Array rs113099255 966 10270 0.0940604 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC20 Ser465Cys S465C not reviewed Insufficiently evaluated not reviewed unknown Array rs3762739 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Ser500Cys S500C not reviewed Insufficiently evaluated not reviewed unknown Array rs3762739 1121 10054 0.111498 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC21 Val57Ala V57A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC21 Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC21 Ile62Asn I62N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC21 Val98Ala V98A not reviewed Insufficiently evaluated not reviewed unknown Array rs1634730 8108 10758 0.753672 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC21 Pro128Leu P128L not reviewed Insufficiently evaluated not reviewed unknown Array 337 10758 0.0313255 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC21 Asp139Glu D139E not reviewed Insufficiently evaluated not reviewed unknown Array 443 10758 0.0411787 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - MUC21 Glu244Asp E244D not reviewed Insufficiently evaluated not reviewed unknown Array 1234 10756 0.114727 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC21 Pro248Thr P248T not reviewed Insufficiently evaluated not reviewed unknown Array 931 10756 0.0865563 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC21 Gly253Ser G253S not reviewed Insufficiently evaluated not reviewed unknown Array 388 10758 0.0360662 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC21 Glu259Asp E259D not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC21 Ser265Ile S265I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC21 Gly268Ser G268S not reviewed Insufficiently evaluated not reviewed unknown Array 298 10758 0.0277003 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC21 Glu274Asp E274D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC21 Asp319Glu D319E not reviewed Insufficiently evaluated not reviewed unknown Array 492 10758 0.0457334 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC21 Ser328Gly S328G not reviewed Insufficiently evaluated not reviewed unknown Array 175 10752 0.016276 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC21 Thr353Ile T353I not reviewed Insufficiently evaluated not reviewed unknown Array rs41288689 1193 10754 0.110935 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC21 Ala360Val A360V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10748 0.00167473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC21 Glu379Asp E379D not reviewed Insufficiently evaluated not reviewed unknown Array 24 10742 0.00223422 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC21 Ser403Asn S403N not reviewed Insufficiently evaluated not reviewed unknown Array 401 10758 0.0372746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC21 Glu409Asp E409D not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC4 Ala1089Val A1089V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Ala1140Val A1140V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Ala5248Val A5248V not reviewed Insufficiently evaluated not reviewed unknown Array rs62284986 1732 10758 0.160996 14 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Gly1046Glu G1046E not reviewed Insufficiently evaluated not reviewed unknown Array rs6808605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC4 Gly5154Glu G5154E not reviewed Insufficiently evaluated not reviewed unknown Array rs6808605 1103 10758 0.102528 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC4 Gly995Glu G995E not reviewed Insufficiently evaluated not reviewed unknown Array rs6808605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC4 Leu4973Met L4973M not reviewed Insufficiently evaluated not reviewed unknown Array rs73079395 786 10758 0.0730619 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MUC4 Leu814Met L814M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC4 Leu865Met L865M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC4 Ala4693Ser A4693S not reviewed Insufficiently evaluated not reviewed unknown Array rs2246901 6835 10744 0.636169 41 0 62 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Ala534Ser A534S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC4 Ala585Ser A585S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC4 Asn215Lys N215K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Asn266Lys N266K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Asn4374Lys N4374K not reviewed Insufficiently evaluated not reviewed unknown Array rs2550240 3828 10758 0.355828 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Asn219Ser N219S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Asn4327Ser N4327S not reviewed Insufficiently evaluated not reviewed unknown Array 966 10758 0.0897936 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC4 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Ala212Thr A212T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Ala4320Thr A4320T not reviewed Insufficiently evaluated not reviewed unknown Array rs2293232 1736 10758 0.161368 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Met150Ile M150I not reviewed Insufficiently evaluated not reviewed unknown Array rs2259102 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC4 Met201Ile M201I not reviewed Insufficiently evaluated not reviewed unknown Array rs2259102 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC4 Met4309Ile M4309I not reviewed Insufficiently evaluated not reviewed unknown Array rs2259102 9384 10758 0.872281 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Gly37Asp G37D not reviewed Insufficiently evaluated not reviewed unknown Array rs2259292 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC4 Gly4196Asp G4196D not reviewed Insufficiently evaluated not reviewed unknown Array rs2259292 6267 10758 0.582543 48 0 64 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC4 Gly88Asp G88D not reviewed Insufficiently evaluated not reviewed unknown Array rs2259292 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC4 Pro4135Ser P4135S not reviewed Insufficiently evaluated not reviewed unknown Array rs2688513 8933 10198 0.875956 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 His4093Gln H4093Q not reviewed Insufficiently evaluated not reviewed unknown Array 5487 10238 0.535945 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Gly4046Ala G4046A not reviewed Insufficiently evaluated not reviewed unknown Array 225 2636 0.0853566 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Ala4038Thr A4038T not reviewed Insufficiently evaluated not reviewed unknown Array 700 2976 0.235215 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Ser3960Pro S3960P not reviewed Insufficiently evaluated not reviewed unknown Array rs2432533 156 2594 0.0601388 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 1 - - MUC4 Arg3947Thr R3947T not reviewed Insufficiently evaluated not reviewed unknown Array 66 2340 0.0282051 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Leu3937Ile L3937I not reviewed Insufficiently evaluated not reviewed unknown Array 210 2586 0.0812065 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Pro3890His P3890H not reviewed Insufficiently evaluated not reviewed unknown Array 201 2824 0.0711756 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 2 - - MUC4 Ala3886Val A3886V not reviewed Insufficiently evaluated not reviewed unknown Array 658 2940 0.22381 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Pro3874His P3874H not reviewed Insufficiently evaluated not reviewed unknown Array 583 2986 0.195244 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC4 Arg3772Gly R3772G not reviewed Insufficiently evaluated not reviewed unknown Array rs9882363 1966 2118 0.928234 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC4 Pro3712Ser P3712S not reviewed Insufficiently evaluated not reviewed unknown Array 80 2186 0.0365965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Leu3634Pro L3634P not reviewed Insufficiently evaluated not reviewed unknown Array 2043 3182 0.642049 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC4 Pro3568Ser P3568S not reviewed Insufficiently evaluated not reviewed unknown Array 1851 3178 0.582442 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Ala3406Thr A3406T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Gly3381Asp G3381D not reviewed Insufficiently evaluated not reviewed unknown Array 248 3170 0.0782334 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC4 His3357Asp H3357D not reviewed Insufficiently evaluated not reviewed unknown Array 16 3170 0.00504732 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Val3313Leu V3313L not reviewed Insufficiently evaluated not reviewed unknown Array 386 3198 0.1207 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC4 Pro3234Ser P3234S not reviewed Insufficiently evaluated not reviewed unknown Array rs55917029 109 3220 0.0338509 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Val3177Ala V3177A not reviewed Insufficiently evaluated not reviewed unknown Array 1474 3126 0.471529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Thr2990Ala T2990A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Pro2960Ser P2960S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Ala2958Thr A2958T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 His2957Asp H2957D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Ser2880Pro S2880P not reviewed Insufficiently evaluated not reviewed unknown Array rs28542401 1775 3130 0.567093 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Asp2851Val D2851V not reviewed Insufficiently evaluated not reviewed unknown Array 360 3118 0.115459 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MUC4 Ser2682Phe S2682F not reviewed Insufficiently evaluated not reviewed unknown Array 110 3078 0.0357375 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Ser2560Pro S2560P not reviewed Insufficiently evaluated not reviewed unknown Array 1109 3214 0.345053 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Ala2542Thr A2542T not reviewed Insufficiently evaluated not reviewed unknown Array rs413807 1210 3204 0.377653 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Thr2463Ile T2463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Asn2437Asp N2437D not reviewed Insufficiently evaluated not reviewed unknown Array 713 3180 0.224214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Ser2374Pro S2374P not reviewed Insufficiently evaluated not reviewed unknown Array 2675 3172 0.843316 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 His2354Pro H2354P not reviewed Insufficiently evaluated not reviewed unknown Array 325 3164 0.102718 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC4 Ala2350Thr A2350T not reviewed Insufficiently evaluated not reviewed unknown Array 36 3108 0.011583 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 His2349Asp H2349D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Thr2347Ser T2347S not reviewed Insufficiently evaluated not reviewed unknown Array 19 3038 0.00625411 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC4 Pro2342Leu P2342L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Thr2334Ala T2334A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Asp2333His D2333H not reviewed Insufficiently evaluated not reviewed unknown Array 26 2854 0.00911002 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Ala2329Val A2329V not reviewed Insufficiently evaluated not reviewed unknown Array 150 2838 0.0528541 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Leu2326Pro L2326P not reviewed Insufficiently evaluated not reviewed unknown Array 208 2838 0.073291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC4 Pro2322His P2322H not reviewed Insufficiently evaluated not reviewed unknown Array 120 2766 0.0433839 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Pro2320Ser P2320S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Val2281Ala V2281A not reviewed Insufficiently evaluated not reviewed unknown Array 1 3170 0.000315457 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Leu2246Pro L2246P not reviewed Insufficiently evaluated not reviewed unknown Array 15 3210 0.0046729 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Ser2245Gly S2245G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Pro2224Leu P2224L not reviewed Insufficiently evaluated not reviewed unknown Array rs391928 592 3178 0.186281 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC4 Ser2213Gly S2213G not reviewed Insufficiently evaluated not reviewed unknown Array 1114 3228 0.345105 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Pro2208Ser P2208S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Pro2192Ser P2192S not reviewed Insufficiently evaluated not reviewed unknown Array 19 3080 0.00616883 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Ser2160Pro S2160P not reviewed Insufficiently evaluated not reviewed unknown Array 24 3058 0.00784827 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Ala2158Thr A2158T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 His2157Asp H2157D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Thr2150Ala T2150A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Asp2141His D2141H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Leu2098Pro L2098P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Leu2082Pro L2082P not reviewed Insufficiently evaluated not reviewed unknown Array 74 3180 0.0232704 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Pro2080His P2080H not reviewed Insufficiently evaluated not reviewed unknown Array 709 3182 0.222816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - MUC4 Ala2078Thr A2078T not reviewed Insufficiently evaluated not reviewed unknown Array 142 3188 0.044542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 His2077Asp H2077D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Val2057Ala V2057A not reviewed Insufficiently evaluated not reviewed unknown Array 16 3184 0.00502513 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Asp2046Ala D2046A not reviewed Insufficiently evaluated not reviewed unknown Array 42 3204 0.0131086 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Gln2045His Q2045H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC4 Arg1792His R1792H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Arg1696Cys R1696C not reviewed Insufficiently evaluated not reviewed unknown Array rs62282501 569 3214 0.177038 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MUC4 Thr1690Ser T1690S not reviewed Insufficiently evaluated not reviewed unknown Array 253 3214 0.0787181 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Gly1644Arg G1644R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC4 Ser1591Thr S1591T not reviewed Insufficiently evaluated not reviewed unknown Array 922 3194 0.288666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Thr1478Asn T1478N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Pro1376Leu P1376L not reviewed Insufficiently evaluated not reviewed unknown Array 36 376 0.0957447 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC4 Thr1150Ala T1150A not reviewed Insufficiently evaluated not reviewed unknown Array 894 3076 0.290637 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Gly1148Ala G1148A not reviewed Insufficiently evaluated not reviewed unknown Array 77 3074 0.0250488 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Val1145Ile V1145I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - MUC4 Ser1136Pro S1136P not reviewed Insufficiently evaluated not reviewed unknown Array 13 2330 0.0055794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Thr1131Ile T1131I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Pro1120Leu P1120L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Thr1118Ala T1118A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - MUC4 Val1113Ala V1113A not reviewed Insufficiently evaluated not reviewed unknown Array 14 3082 0.0045425 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Thr1110Ser T1110S not reviewed Insufficiently evaluated not reviewed unknown Array 503 2996 0.167891 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Ser1104Pro S1104P not reviewed Insufficiently evaluated not reviewed unknown Array 69 2980 0.0231544 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Val1091Asp V1091D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC4 Ser1054Thr S1054T not reviewed Insufficiently evaluated not reviewed unknown Array 99 3212 0.0308219 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC4 Phe1046Leu F1046L not reviewed Insufficiently evaluated not reviewed unknown Array rs71617321 1879 3134 0.599553 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC4 Val1038Ala V1038A not reviewed Insufficiently evaluated not reviewed unknown Array 876 3234 0.270872 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - MUC4 Glu1033Ala E1033A not reviewed Insufficiently evaluated not reviewed unknown Array 17 3232 0.0052599 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - MUC4 Glu953Gln E953Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13095016 8179 10616 0.770441 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Thr945Ser T945S not reviewed Insufficiently evaluated not reviewed unknown Array rs2641776 10175 10606 0.959363 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Thr910Ala T910A not reviewed Insufficiently evaluated not reviewed unknown Array rs56943541 73 10340 0.00705996 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - MUC4 Gln909Glu Q909E not reviewed Insufficiently evaluated not reviewed unknown Array rs55697302 872 10334 0.0843817 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Ala716Thr A716T not reviewed Insufficiently evaluated not reviewed unknown Array rs3749331 1568 10514 0.149134 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Thr525Ala T525A not reviewed Insufficiently evaluated not reviewed unknown Array rs2177336 8197 9954 0.823488 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Ser491Pro S491P not reviewed Insufficiently evaluated not reviewed unknown Array rs11923648 461 10094 0.0456707 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MUC4 Thr398Ile T398I not reviewed Insufficiently evaluated not reviewed unknown Array rs1106502 8139 9868 0.824787 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Thr377Ile T377I not reviewed Insufficiently evaluated not reviewed unknown Array rs1104760 8171 9914 0.824188 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Phe300Val F300V not reviewed Insufficiently evaluated not reviewed unknown Array rs882605 8320 10068 0.826381 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Thr181Ile T181I not reviewed Insufficiently evaluated not reviewed unknown Array rs729593 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MUC4 Ala41Pro A41P not reviewed Insufficiently evaluated not reviewed unknown Array rs3107764 5123 9960 0.514357 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Arg5His R5H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 7 - - MUC5AC Ser221Arg S221R not reviewed Insufficiently evaluated not reviewed unknown Array rs35783651 860 4586 0.187527 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC5AC Val497Met V497M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Val497Ala V497A not reviewed Insufficiently evaluated not reviewed unknown Array rs28403537 3637 3752 0.96935 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Glu660Gly E660G not reviewed Insufficiently evaluated not reviewed unknown Array rs2672785 2317 9986 0.232025 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC5AC Arg677Trp R677W not reviewed Insufficiently evaluated not reviewed unknown Array rs2075853 914 9792 0.0933415 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC5AC Arg1548Gly R1548G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5AC Asp1568Asn D1568N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10468 9.5529e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC5AC Ala1741Val A1741V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10428 0.00316456 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Arg2094His R2094H not reviewed Insufficiently evaluated not reviewed unknown Array rs10835639 291 10452 0.0278416 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Pro2150Ala P2150A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Thr2455Met T2455M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10664 0.00525131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Ser2576Gly S2576G not reviewed Insufficiently evaluated not reviewed unknown Array 284 10708 0.0265222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Ala2718Thr A2718T not reviewed Insufficiently evaluated not reviewed unknown Array rs34739266 1168 10382 0.112502 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5AC Arg2849Pro R2849P not reviewed Insufficiently evaluated not reviewed unknown Array 2998 10130 0.295953 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC5AC Leu2876Pro L2876P not reviewed Insufficiently evaluated not reviewed unknown Array rs4963031 6213 10446 0.594773 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC5AC Thr2915Arg T2915R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Thr3237Ile T3237I not reviewed Insufficiently evaluated not reviewed unknown Array 152 10198 0.0149049 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Thr3248Ser T3248S not reviewed Insufficiently evaluated not reviewed unknown Array 272 10334 0.0263209 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5AC Ala3418Gly A3418G not reviewed Insufficiently evaluated not reviewed unknown Array 219 10054 0.0217824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Thr3565Met T3565M not reviewed Insufficiently evaluated not reviewed unknown Array rs4046507 233 10290 0.0226433 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Glu3578Lys E3578K not reviewed Insufficiently evaluated not reviewed unknown Array 46 10422 0.00441374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Gln3579Leu Q3579L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10432 9.5858e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5AC Ala3582Thr A3582T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Ala3587Thr A3587T not reviewed Insufficiently evaluated not reviewed unknown Array 279 10486 0.0266069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Phe3655Ser F3655S not reviewed Insufficiently evaluated not reviewed unknown Array rs55813014 2986 10226 0.292001 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC5AC Thr3734Met T3734M not reviewed Insufficiently evaluated not reviewed unknown Array rs60268710 2665 10102 0.263809 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Ala3764Gly A3764G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Thr3867Ala T3867A not reviewed Insufficiently evaluated not reviewed unknown Array rs71469864 6601 9838 0.67097 32 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5AC Arg3996Cys R3996C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC5AC Arg3996Pro R3996P not reviewed Insufficiently evaluated not reviewed unknown Array 4536 10332 0.439024 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC5AC Pro4023Leu P4023L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5AC Ser4028Gly S4028G not reviewed Insufficiently evaluated not reviewed unknown Array 5345 10172 0.525462 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Arg4062Thr R4062T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Gly4063Ala G4063A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Thr4097Met T4097M not reviewed Insufficiently evaluated not reviewed unknown Array 7 9618 0.000727802 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Thr4210Met T4210M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10174 0.000196579 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Lys4223Glu K4223E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Thr4230Met T4230M not reviewed Insufficiently evaluated not reviewed unknown Array rs71469876 1201 10142 0.118418 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Thr4291Ile T4291I not reviewed Insufficiently evaluated not reviewed unknown Array 2387 9114 0.261905 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC5AC Val4437Ile V4437I not reviewed Insufficiently evaluated not reviewed unknown Array rs59902608 3197 10174 0.314232 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC5AC Thr4564Arg T4564R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Thr4599Met T4599M not reviewed Insufficiently evaluated not reviewed unknown Array 9 9488 0.000948566 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Gly4658Arg G4658R not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5AC Ser4836Phe S4836F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5AC Ala4877Gly A4877G not reviewed Insufficiently evaluated not reviewed unknown Array rs2943517 3826 9788 0.390887 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5AC Pro4913Leu P4913L not reviewed Insufficiently evaluated not reviewed unknown Array rs2943516 4005 10256 0.390503 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC5AC Ser5218Ile S5218I not reviewed Insufficiently evaluated not reviewed unknown Array rs56368888 55 10572 0.00520242 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5AC Leu5516Pro L5516P not reviewed Insufficiently evaluated not reviewed unknown Array rs56232219 272 10548 0.0257869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5AC Ala5576Thr A5576T not reviewed Insufficiently evaluated not reviewed unknown Array 284 10272 0.027648 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Gly5688Val G5688V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC5AC Val5771Met V5771M not reviewed Insufficiently evaluated not reviewed unknown Array rs55657020 242 10516 0.0230126 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Glu5809Asp E5809D not reviewed Insufficiently evaluated not reviewed unknown Array 246 9930 0.0247734 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5B Glu34Gly E34G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5B Arg51Trp R51W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5B Arg892Gly R892G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5B Asp912Asn D912N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC5B Ala1051Val A1051V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Arg1404His R1404H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Pro1460Ala P1460A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Thr1765Met T1765M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ser1886Gly S1886G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ala2028Thr A2028T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Asn2177Ser N2177S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MUC5B Arg2214Pro R2214P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5B Leu2241Pro L2241P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5B Thr2280Arg T2280R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5B Thr2602Ile T2602I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5B Thr2613Ser T2613S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5B Ala2838Gly A2838G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr2985Met T2985M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Glu2998Lys E2998K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5B Gln2999Leu Q2999L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5B Ala3002Thr A3002T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Ala3007Thr A3007T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Phe3075Ser F3075S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5B Thr3154Met T3154M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ala3184Gly A3184G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr3287Ala T3287A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Arg3471Cys R3471C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC5B Arg3471Pro R3471P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5B Pro3498Leu P3498L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5B Ser3503Gly S3503G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Arg3537Thr R3537T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5B Gly3538Ala G3538A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr3572Met T3572M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Thr3685Met T3685M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Lys3698Glu K3698E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5B Thr3705Met T3705M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Thr3766Ile T3766I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5B Val3912Ile V3912I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC5B Ile3951Thr I3951T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5B Thr3955Asn T3955N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr4094Arg T4094R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5B Thr4129Met T4129M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Gly4188Arg G4188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5B Ser4366Phe S4366F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5B Ala4407Gly A4407G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Pro4443Leu P4443L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5B Thr4709Pro T4709P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC5B Ser4899Ile S4899I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5B Leu5184Pro L5184P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5B Ala5244Thr A5244T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Gly5356Val G5356V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC5B Val5439Met V5439M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5B Glu5477Asp E5477D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC6 Met2064Ile M2064I not reviewed Insufficiently evaluated not reviewed unknown Array rs73403291 526 10686 0.0492233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 Ala2054Val A2054V not reviewed Insufficiently evaluated not reviewed unknown Array 236 10734 0.0219862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC6 Pro2049Leu P2049L not reviewed Insufficiently evaluated not reviewed unknown Array 454 10746 0.0422483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC6 Val2046Ile V2046I not reviewed Insufficiently evaluated not reviewed unknown Array 4444 10740 0.41378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC6 Ala2033Ser A2033S not reviewed Insufficiently evaluated not reviewed unknown Array 2082 10742 0.193819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC6 Thr2030Ala T2030A not reviewed Insufficiently evaluated not reviewed unknown Array 2799 10744 0.260518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC6 Ile2026Thr I2026T not reviewed Insufficiently evaluated not reviewed unknown Array 2002 10738 0.186441 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Val2009Ile V2009I not reviewed Insufficiently evaluated not reviewed unknown Array rs33988517 16 32 0.5 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC6 Phe1978Ile F1978I not reviewed Insufficiently evaluated not reviewed unknown Array rs35469308 2 4 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC6 Pro1971Ser P1971S not reviewed Insufficiently evaluated not reviewed unknown Array 2904 10756 0.269989 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Thr1964Ile T1964I not reviewed Insufficiently evaluated not reviewed unknown Array 4458 10754 0.414543 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Pro1963Thr P1963T not reviewed Insufficiently evaluated not reviewed unknown Array 2891 10750 0.26893 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 1 N - - MUC6 Ser1958Thr S1958T not reviewed Insufficiently evaluated not reviewed unknown Array rs34053383 6 12 0.5 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC6 Lys1941Asn K1941N not reviewed Insufficiently evaluated not reviewed unknown Array rs76461263 2881 10740 0.26825 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC6 Asn1937Thr N1937T not reviewed Insufficiently evaluated not reviewed unknown Array rs74788171 1701 10738 0.158409 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC6 Pro1919His P1919H not reviewed Insufficiently evaluated not reviewed unknown Array rs77885750 329 10722 0.0306846 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC6 Thr1911Met T1911M not reviewed Insufficiently evaluated not reviewed unknown Array 4505 10716 0.420399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC6 Pro1906Leu P1906L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC6 Pro1873Gln P1873Q not reviewed Insufficiently evaluated not reviewed unknown Array 3958 10732 0.368804 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC6 Met1872Thr M1872T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10732 0.00149087 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC6 Thr1861Ala T1861A not reviewed Insufficiently evaluated not reviewed unknown Array rs56238842 52 104 0.5 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC6 Ile1857Thr I1857T not reviewed Insufficiently evaluated not reviewed unknown Array rs35840539 4754 10686 0.444881 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Ser1842Pro S1842P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC6 Val1840Ile V1840I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC6 His1833Gln H1833Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35330958 4806 10742 0.447403 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC6 Pro1832Ser P1832S not reviewed Insufficiently evaluated not reviewed unknown Array 888 10746 0.0826354 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - 3 - 0 N - - MUC6 Tyr1826Asp Y1826D not reviewed Insufficiently evaluated not reviewed unknown Array 6 14 0.428571 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC6 Thr1807Ser T1807S not reviewed Insufficiently evaluated not reviewed unknown Array 2451 10754 0.227915 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC6 Thr1806Ser T1806S not reviewed Insufficiently evaluated not reviewed unknown Array 4806 10752 0.446987 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC6 Pro1794Thr P1794T not reviewed Insufficiently evaluated not reviewed unknown Array rs35549382 3416 10752 0.317708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC6 Asn1772Lys N1772K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Ser1768Asn S1768N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC6 Ser1768Thr S1768T not reviewed Insufficiently evaluated not reviewed unknown Array 2664 10742 0.247999 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC6 Ser1763Pro S1763P not reviewed Insufficiently evaluated not reviewed unknown Array 2825 10740 0.263035 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Val1761Ala V1761A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC6 Ser1736Ala S1736A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10668 0.0024372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 Ser1708Pro S1708P not reviewed Insufficiently evaluated not reviewed unknown Array 13 10728 0.00121178 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC6 Ala1706Val A1706V not reviewed Insufficiently evaluated not reviewed unknown Array 61 10730 0.005685 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC6 Ala1704Pro A1704P not reviewed Insufficiently evaluated not reviewed unknown Array 3311 10732 0.308517 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC6 Asn1686Ser N1686S not reviewed Insufficiently evaluated not reviewed unknown Array 78 10748 0.00725716 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC6 Leu1685Phe L1685F not reviewed Insufficiently evaluated not reviewed unknown Array 3354 10748 0.312058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC6 Leu1673Pro L1673P not reviewed Insufficiently evaluated not reviewed unknown Array rs36101709 4605 10744 0.428611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC6 Met1648Thr M1648T not reviewed Insufficiently evaluated not reviewed unknown Array 4676 10748 0.435058 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC6 Ala1640Ser A1640S not reviewed Insufficiently evaluated not reviewed unknown Array 4511 10742 0.41994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC6 His1607Leu H1607L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 Lys1597Gln K1597Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10751676 56 10580 0.00529301 18 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC6 Phe1585Ile F1585I not reviewed Insufficiently evaluated not reviewed unknown Array rs12787400 43 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC6 Pro1578Ser P1578S not reviewed Insufficiently evaluated not reviewed unknown Array rs10736904 34 68 0.5 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Asn1562Thr N1562T not reviewed Insufficiently evaluated not reviewed unknown Array rs10902269 1863 10644 0.175028 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC6 Arg1555Gly R1555G not reviewed Insufficiently evaluated not reviewed unknown Array rs77004617 465 10588 0.0439176 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 Arg1553Gly R1553G not reviewed Insufficiently evaluated not reviewed unknown Array rs57449597 268 10564 0.0253692 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 His1534Leu H1534L not reviewed Insufficiently evaluated not reviewed unknown Array rs10902270 1 28 0.0357143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - MUC6 His1534Tyr H1534Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 His1528Gln H1528Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12422096 1 34 0.0294118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 His1513Gln H1513Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 His1513Pro H1513P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC6 Ile1502Met I1502M not reviewed Insufficiently evaluated not reviewed unknown Array rs73403297 4366 10656 0.409722 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC6 Pro1501Thr P1501T not reviewed Insufficiently evaluated not reviewed unknown Array 9 48 0.1875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC6 Asn1476Ile N1476I not reviewed Insufficiently evaluated not reviewed unknown Array rs7396383 7877 10638 0.740459 17 0 34 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC6 Thr1461Ile T1461I not reviewed Insufficiently evaluated not reviewed unknown Array 1956 10726 0.182361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Val1447Ile V1447I not reviewed Insufficiently evaluated not reviewed unknown Array 87 10702 0.00812932 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC6 Glu1440Gln E1440Q not reviewed Insufficiently evaluated not reviewed unknown Array 4881 10634 0.458999 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC6 Asn1179Ser N1179S not reviewed Insufficiently evaluated not reviewed unknown Array rs113451874 382 10326 0.036994 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC6 Arg1054His R1054H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Val619Met V619M not reviewed Insufficiently evaluated not reviewed unknown Array rs7481521 4735 10364 0.45687 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC6 Leu511Pro L511P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10372 0.00086772 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC6 Glu431Lys E431K not reviewed Insufficiently evaluated not reviewed unknown Array rs59763899 448 10078 0.0444533 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC6 Gly395Arg G395R not reviewed Insufficiently evaluated not reviewed unknown Array rs11604757 877 10334 0.0848655 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC6 Val115Ile V115I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC7 Asn80Lys N80K not reviewed Insufficiently evaluated not reviewed unknown Array rs6826961 2724 10758 0.253207 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC7 Pro179Thr P179T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC7 Leu249Pro L249P not reviewed Insufficiently evaluated not reviewed unknown Array rs78564790 352 10750 0.0327442 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC7 Asp321Asn D321N not reviewed Insufficiently evaluated not reviewed unknown Array rs41436144 397 10758 0.0369028 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.903 - - -1 - 2 N - - MUDENG Val6Met V6M not reviewed Insufficiently evaluated not reviewed unknown Array rs34722917 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUDENG Glu379Asp E379D not reviewed Insufficiently evaluated not reviewed unknown Array rs10140245 543 10756 0.0504835 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - MUM1 Gly220Arg G220R not reviewed Insufficiently evaluated not reviewed unknown Array rs3826942 7855 10758 0.730154 50 0 72 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUM1 Ser354Phe S354F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUPCDH Ala634Glu A634E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUPCDH Ala828Glu A828E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUPCDH Gly633Val G633V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUPCDH Gly827Val G827V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUPCDH Cys508Ser C508S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUPCDH Cys702Ser C702S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUPCDH Ala493Thr A493T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUPCDH Ala687Thr A687T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUPCDH Ser622Phe S622F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUPCDH Pro521Ser P521S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUPCDH Ala367Thr A367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUPCDH Arg357Ser R357S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MURC Ser78Leu S78L not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - 6 Y 0 N - - MUS81 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs13817 5757 10402 0.553451 29 0 38 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 1 N - - MUS81 Ser115Phe S115F not reviewed Insufficiently evaluated not reviewed unknown Array rs34381357 165 10740 0.0153631 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.267 - - 5 Y 1 N - - MUS81 Arg180Pro R180P not reviewed Insufficiently evaluated not reviewed unknown Array rs659857 5603 10758 0.520822 37 0 38 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - MUS81 Leu189Phe L189F not reviewed Insufficiently evaluated not reviewed unknown Array rs2298447 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 1 - 6 - - MUS81 Arg350Trp R350W not reviewed Insufficiently evaluated not reviewed unknown Array rs34891773 251 10758 0.0233315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 7 Y 3 - 3 - - MUS81 Val399Leu V399L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.401 - - 0 - 1 N - - MUSK Thr100Met T100M benign Low clinical importance, Uncertain benign unknown Array rs35142681 239 10208 0.023413 2 0 2 0 0 0 Y - - 4 Y - - - - - - Y - - - 0.488 Y Y 2 - 4 Y 0 0 Probably benign. MUSK Ser159Gly S159G not reviewed Insufficiently evaluated not reviewed unknown Array rs35176182 1110 9468 0.117237 10 0 10 0 0 1 Y - - - - - - - - - - Y - - - 0.001 Y Y 2 - 3 - 3 - - MUSK Asn664Ser N664S not reviewed Insufficiently evaluated not reviewed unknown Array rs55963442 101 10452 0.00966322 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.44 Y Y 0 - 3 N - - MUSK Val829Leu V829L not reviewed Insufficiently evaluated not reviewed unknown Array rs578430 993 10242 0.0969537 16 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - MUSTN1 Asp20Glu D20E not reviewed Insufficiently evaluated not reviewed unknown Array rs6787916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUT Ile671Val I671V not reviewed Insufficiently evaluated not reviewed unknown Array rs8589 6536 10758 0.607548 35 0 47 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - MUT Arg532His R532H not reviewed Insufficiently evaluated not reviewed unknown Array rs1141321 3364 10758 0.312698 22 0 25 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - MUT Ala499Thr A499T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229385 1127 10752 0.104818 15 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 3 - - MUTYH Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 6 - - MUTYH Arg507Gln R507Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3219497 130 10758 0.012084 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 0 - 3 N - - MUTYH Arg520Gln R520Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.026 Y - 0 - 2 - 1 - - MUTYH Arg531Gln R531Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.021 Y - 0 - 2 - 1 - - MUTYH Arg534Gln R534Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MUTYH Gly475Glu G475E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MUTYH Gly476Glu G476E not reviewed Insufficiently evaluated not reviewed unknown Array rs3219494 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MUTYH Gly489Glu G489E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MUTYH Gly500Glu G500E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.257 Y - 6 Y 2 N - - MUTYH Gly503Glu G503E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MUTYH Gln310His Q310H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MUTYH Gln311His Q311H not reviewed Insufficiently evaluated not reviewed unknown Array rs3219489 2720 10754 0.252929 29 0 34 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - -1 - 1 N - - MUTYH Gln324His Q324H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 10 - - MUTYH Gln335His Q335H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - -1 - 2 - 3 - - MUTYH Gln338His Q338H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MUTYH Gly11Asp G11D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - MUTYH Gly25Asp G25D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 4 Y 2 - 8 - - MUTYH Val22Met V22M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.931 Y - 0 - 4 - 10 - - MUTYH Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array rs3219484 554 10758 0.0514966 10 0 11 0 0 1 Y - - - - - - - - - - Y - - - - Y - 0 - 1 N - - MUTYH Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 7 Y 2 - 8 - - MUTYH Pro4Leu P4L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MVD Ala238Val A238V not reviewed Insufficiently evaluated not reviewed unknown Array rs60803836 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MVK Ser52Asn S52N not reviewed Insufficiently evaluated not reviewed unknown Array rs7957619 1275 10758 0.118516 10 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 10 - - MVK Val80Ile V80I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 4 - - MVP Asp262Asn D262N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - -1 - 0 N - - MX1 Arg60Gln R60Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 8 - - MX1 Val379Ile V379I not reviewed Insufficiently evaluated not reviewed unknown Array rs469390 5798 10758 0.538948 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MX2 Met83Thr M83T not reviewed Insufficiently evaluated not reviewed unknown Array rs56680307 651 10758 0.0605131 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - MXD3 Arg188Trp R188W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - MXRA5 Arg2782Leu R2782L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MXRA5 Glu2700Asp E2700D not reviewed Insufficiently evaluated not reviewed unknown Array rs2240240 1495 8755 0.17076 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MXRA5 Leu2531Val L2531V not reviewed Insufficiently evaluated not reviewed unknown Array rs1726208 121 6061 0.0199637 36 0 63 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MXRA5 Gly2000Ser G2000S not reviewed Insufficiently evaluated not reviewed unknown Array rs1635242 5813 8761 0.663509 40 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MXRA5 Pro1665Ser P1665S not reviewed Insufficiently evaluated not reviewed unknown Array rs1974522 4145 8761 0.473119 29 0 50 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 1 N - - MXRA5 Gly1394Asp G1394D not reviewed Insufficiently evaluated not reviewed unknown Array rs1726199 6036 8761 0.688962 43 0 81 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MXRA5 Ala1128Val A1128V not reviewed Insufficiently evaluated not reviewed unknown Array rs1635246 5051 8761 0.576532 38 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MXRA5 Ile824Val I824V not reviewed Insufficiently evaluated not reviewed unknown Array rs5983119 6393 8761 0.729711 45 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MXRA5 Val764Leu V764L not reviewed Insufficiently evaluated not reviewed unknown Array rs5983120 301 8761 0.0343568 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 2 - 3 - - MXRA5 Leu609Phe L609F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.227 - - 0 - 1 N - - MXRA5 Glu581Val E581V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - MXRA7 Glu36Gly E36G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYADML2 Trp229Arg W229R not reviewed Insufficiently evaluated not reviewed unknown Array rs62077244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYADML2 Ser116Pro S116P not reviewed Insufficiently evaluated not reviewed unknown Array rs4796856 1812 2972 0.60969 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYB Leu315Gln L315Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - MYB Glu423Ala E423A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYB Glu473Ala E473A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MYB Glu505Ala E505A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 3 - 1 - - MYB Glu508Ala E508A not reviewed Insufficiently evaluated not reviewed unknown Array rs73555746 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - MYB Glu613Ala E613A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYB Glu626Ala E626A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MYB Glu629Ala E629A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBBP1A Arg1130His R1130H not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - MYBBP1A Ala1123Pro A1123P not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYBBP1A Val1069Met V1069M not reviewed Insufficiently evaluated not reviewed unknown Array rs73972683 251 10758 0.0233315 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MYBBP1A His958Pro H958P not reviewed Insufficiently evaluated not reviewed unknown Array rs879797 348 10758 0.032348 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYBBP1A His680Tyr H680Y not reviewed Insufficiently evaluated not reviewed unknown Array rs899440 808 10756 0.0751209 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.906 - - -1 - 1 N - - MYBBP1A Glu612Lys E612K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MYBBP1A Ala588Thr A588T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYBBP1A Arg570His R570H not reviewed Insufficiently evaluated not reviewed unknown Array rs56716962 76 10758 0.00706451 4 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - MYBBP1A Lys529Arg K529R not reviewed Insufficiently evaluated not reviewed unknown Array rs73337533 308 10758 0.0286299 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - MYBBP1A Gln8Glu Q8E not reviewed Insufficiently evaluated not reviewed unknown Array rs3809849 2321 10730 0.216309 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYBL2 Ser191Asn S191N not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBL2 Asn341Ser N341S not reviewed Insufficiently evaluated not reviewed unknown Array rs6017146 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - MYBL2 Ser427Gly S427G not reviewed Insufficiently evaluated not reviewed unknown Array rs2070235 1646 10758 0.153002 14 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MYBL2 Val595Met V595M not reviewed Insufficiently evaluated not reviewed unknown Array rs7660 221 10756 0.0205467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBL2 Arg682Trp R682W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MYBPC1 His481Gln H481Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3817552 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBPC1 His506Gln H506Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3817552 1532 10758 0.142406 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYBPC1 Glu676Stop E676X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYBPC1 Glu701Stop E701X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYBPC2 Thr171Met T171M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731791 304 9792 0.0310458 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYBPC2 Ala179Ser A179S not reviewed Insufficiently evaluated not reviewed unknown Array rs35209148 487 10258 0.0474751 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBPC2 Asp282Asn D282N not reviewed Insufficiently evaluated not reviewed unknown Array rs35951152 491 10184 0.0482129 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBPC2 Val489Ile V489I not reviewed Insufficiently evaluated not reviewed unknown Array rs34051416 132 10268 0.0128555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYBPC2 Val624Ile V624I not reviewed Insufficiently evaluated not reviewed unknown Array rs25665 1641 10348 0.158581 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MYBPC2 Ala629Thr A629T not reviewed Insufficiently evaluated not reviewed unknown Array rs35215508 431 10364 0.0415863 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYBPC2 Arg1089His R1089H not reviewed Insufficiently evaluated not reviewed unknown Array rs25667 1455 10438 0.139395 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYBPC2 Arg1121Trp R1121W not reviewed Insufficiently evaluated not reviewed unknown Array 64 10466 0.00611504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYBPC2 Glu1136Lys E1136K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBPC3 Ala1097Thr A1097T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MYBPC3 Gln850Stop Q850X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - MYBPC3 Val158Met V158M benign Insufficiently evaluated benign unknown Array rs3729986 656 10084 0.0650536 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 5 - - Cardiogenomics database lists this as a benign polymorphism. MYBPH Ala147Thr A147T not reviewed Insufficiently evaluated not reviewed unknown Array rs60470214 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - MYBPH Ala114Gly A114G not reviewed Insufficiently evaluated not reviewed unknown Array rs2642531 2723 10756 0.253161 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - MYBPHL His312Tyr H312Y not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBPHL Asp269Asn D269N not reviewed Insufficiently evaluated not reviewed unknown Array rs629001 9217 10758 0.856758 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYBPHL Arg102Gln R102Q not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYCBP2 Asn2593Ser N2593S not reviewed Insufficiently evaluated not reviewed unknown Array rs34474844 315 10758 0.0292805 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - MYCBP2 Gln2199Stop Q2199X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYCBP2 Ala1881Ser A1881S not reviewed Insufficiently evaluated not reviewed unknown Array rs35887505 228 10758 0.0211935 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.535 - - -1 - 1 N - - MYCBP2 Ile1460Val I1460V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYCBPAP Ser173Asn S173N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYCBPAP Glu228Asp E228D not reviewed Insufficiently evaluated not reviewed unknown Array rs8064455 3321 10758 0.308701 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYCBPAP Arg296Cys R296C not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYCBPAP Ala424Thr A424T not reviewed Insufficiently evaluated not reviewed unknown Array rs1380657 8449 10758 0.785369 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYCBPAP Met516Val M516V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYCBPAP Arg702Trp R702W not reviewed Insufficiently evaluated not reviewed unknown Array rs61753813 307 10758 0.0285369 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYCBPAP Arg725Trp R725W not reviewed Insufficiently evaluated not reviewed unknown Array rs9890721 4799 10758 0.446087 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYCBPAP Arg777Thr R777T not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYCBPAP Val855Met V855M not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYCBPAP Ser947Arg S947R not reviewed Insufficiently evaluated not reviewed unknown Array rs1133818 8461 10758 0.786484 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYCL1 Thr362Ser T362S not reviewed Insufficiently evaluated not reviewed unknown Array rs3134614 9747 10758 0.906023 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYCL1 Gly232Cys G232C not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYCT1 Asp47Ala D47A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 5 Y 1 N - - MYCT1 Gly119Ser G119S not reviewed Insufficiently evaluated not reviewed unknown Array rs17710008 1328 10758 0.123443 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 5 - - MYEF2 Ser465Gly S465G not reviewed Insufficiently evaluated not reviewed unknown Array rs36075490 496 10756 0.0461138 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYEF2 Gln426Arg Q426R not reviewed Insufficiently evaluated not reviewed unknown Array rs2470103 10752 10758 0.999442 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYEF2 Ala91Thr A91T not reviewed Insufficiently evaluated not reviewed unknown Array rs8023906 10664 10756 0.991447 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYEOV Val159Ala V159A not reviewed Insufficiently evaluated not reviewed unknown Array rs7103126 3928 10758 0.365124 37 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYEOV Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11539762 1147 10758 0.106618 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYEOV Met219Val M219V not reviewed Insufficiently evaluated not reviewed unknown Array rs17856376 2164 10758 0.201153 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYEOV Gly271Arg G271R not reviewed Insufficiently evaluated not reviewed unknown Array rs11228610 1371 10758 0.12744 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MYEOV Pro284Thr P284T not reviewed Insufficiently evaluated not reviewed unknown Array rs12274095 556 10752 0.0517113 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MYEOV2 Gly180Arg G180R not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYH1 Arg1693Trp R1693W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - MYH1 Met688Val M688V not reviewed Insufficiently evaluated not reviewed unknown Array rs73974725 293 10758 0.0272355 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.752 - - 0 - 1 N - - MYH11 Asn1899Ser N1899S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MYH11 Asn1906Ser N1906S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MYH11 Val1289Ala V1289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - MYH11 Val1296Ala V1296A not reviewed Insufficiently evaluated not reviewed unknown Array rs16967510 492 10758 0.0457334 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MYH11 Ala1234Thr A1234T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 3 - - MYH11 Ala1241Thr A1241T not reviewed Insufficiently evaluated not reviewed unknown Array rs16967494 2230 10758 0.207288 20 0 20 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - MYH11 Ser453Ala S453A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MYH11 Ser460Ala S460A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MYH11 Ser339Arg S339R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MYH11 Ser346Arg S346R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MYH13 His1862Arg H1862R not reviewed Insufficiently evaluated not reviewed unknown Array rs3744550 995 10510 0.0946717 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYH13 Arg1294Gln R1294Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17690195 1214 10050 0.120796 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYH13 Asp1076Glu D1076E not reviewed Insufficiently evaluated not reviewed unknown Array rs2074876 1106 9606 0.115136 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYH13 Met1071Val M1071V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074877 6176 9624 0.641729 42 0 57 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - MYH14 Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - MYH14 Ile276Val I276V not reviewed Insufficiently evaluated not reviewed unknown Array rs55645295 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - MYH14 Asp1055Glu D1055E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MYH14 Asp1063Glu D1063E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MYH14 Asp1096Glu D1096E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MYH15 Arg1748Gln R1748Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10088 0.004659 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - MYH15 Val1365Ile V1365I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYH15 Thr1125Ala T1125A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3900940 2307 9548 0.241621 14 0 15 1 1 - - - - - - - - - - - - - - - Y 0.007 - - 1 - 1 N - - MYH15 Thr949Ile T949I not reviewed Insufficiently evaluated not reviewed unknown Array rs12638212 426 9988 0.0426512 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - MYH15 Glu819Lys E819K not reviewed Insufficiently evaluated not reviewed unknown Array 42 9892 0.00424585 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.455 - - 0 - 1 N - - MYH15 Ser572Leu S572L not reviewed Insufficiently evaluated not reviewed unknown Array 29 9676 0.00299711 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - MYH15 His504Tyr H504Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9868484 6791 9504 0.714541 46 0 71 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - MYH15 Arg454Gln R454Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4299484 2206 10010 0.22038 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - MYH2 Asn605Ser N605S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.605 Y - 0 - 2 N - - MYH3 Ala1752Thr A1752T not reviewed Insufficiently evaluated not reviewed unknown Array rs34393601 253 10758 0.0235174 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - MYH3 Thr1313Ile T1313I not reviewed Insufficiently evaluated not reviewed unknown Array rs35230241 273 10758 0.0253765 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MYH3 Ala1192Thr A1192T not reviewed Insufficiently evaluated not reviewed unknown Array rs2285477 7700 10758 0.715746 51 0 77 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - MYH3 Arg1137Cys R1137C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - MYH3 Ala1003Val A1003V not reviewed Insufficiently evaluated not reviewed unknown Array rs34088014 254 10758 0.0236103 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.019 Y - 2 - 1 N - - MYH4 Lys1911Glu K1911E not reviewed Insufficiently evaluated not reviewed unknown Array rs3744554 4219 10758 0.392173 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYH4 Arg1845Cys R1845C not reviewed Insufficiently evaluated not reviewed unknown Array rs61521510 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - MYH4 Asp1802Gly D1802G not reviewed Insufficiently evaluated not reviewed unknown Array rs2277649 3433 10758 0.319111 28 0 39 0 0 - - - - - - - - - - - - - - - - 0.587 - - 4 Y 0 N - - MYH4 Lys1795Thr K1795T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - MYH4 Glu1209Lys E1209K not reviewed Insufficiently evaluated not reviewed unknown Array rs11651295 3707 10758 0.344581 30 0 45 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - MYH4 Ile1106Met I1106M not reviewed Insufficiently evaluated not reviewed unknown Array rs917361 4242 10758 0.394311 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYH4 Thr883Met T883M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 2 - - MYH4 Ala594Thr A594T not reviewed Insufficiently evaluated not reviewed unknown Array rs12949680 601 10758 0.0558654 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYH4 Gly256Asp G256D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.193 - - 4 Y 0 N - - MYH6 Ala1183Thr A1183T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - MYH6 Ala1130Thr A1130T not reviewed Insufficiently evaluated not reviewed unknown Array rs28730771 886 10662 0.0830989 5 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 - 3 - - MYH6 Val1101Ala V1101A not reviewed Insufficiently evaluated not reviewed unknown Array rs365990 4958 10758 0.460866 37 0 53 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 - 2 - - MYH6 Gly56Arg G56R not reviewed Insufficiently evaluated not reviewed unknown Array rs28711516 891 10758 0.0828221 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 - 2 - - MYH7B Ala25Thr A25T not reviewed Insufficiently evaluated not reviewed unknown Array rs11906160 1649 10598 0.155595 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYH7B Pro70Thr P70T not reviewed Insufficiently evaluated not reviewed unknown Array rs17092199 288 10604 0.0271596 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - MYH7B Arg890Cys R890C not reviewed Insufficiently evaluated not reviewed unknown Array 106 10254 0.0103374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYH7B Lys1007Glu K1007E not reviewed Insufficiently evaluated not reviewed unknown Array rs2425015 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYH7B Lys1552Asn K1552N not reviewed Insufficiently evaluated not reviewed unknown Array rs3746435 1736 10192 0.17033 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYH7B Ala1934Val A1934V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746160 92 10742 0.00856451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH8 Glu1838Ala E1838A not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.595 Y - 3 - 2 N - - MYH8 Trp1692Arg W1692R not reviewed Insufficiently evaluated not reviewed unknown Array rs8069834 6802 10756 0.632391 41 0 66 0 0 3 Y - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - MYH8 Thr1500Met T1500M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - MYH8 Glu1353Gln E1353Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.715 Y - -2 - 2 N - - MYH8 Ala904Gly A904G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 1 N - - MYH8 Val894Ile V894I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.424 Y - -4 - 2 N - - MYH8 Ala636Val A636V not reviewed Insufficiently evaluated not reviewed unknown Array rs34693726 604 10758 0.0561443 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - MYH8 Glu577Asp E577D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.064 Y - -2 - 1 N - - MYH8 Asn565Asp N565D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.406 Y - -1 - 2 N - - MYH9 Glu1693Gly E1693G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.885 Y Y 6 Y 4 N - - MYH9 Ile1626Val I1626V not reviewed Insufficiently evaluated not reviewed unknown Array rs2269529 1647 10758 0.153095 19 0 24 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 10 - - MYH9 Arg1400Trp R1400W benign Low clinical importance, Uncertain benign unknown Array 16 10758 0.00148726 0 0 0 1 1 ! Y 0 Y 0 Y 1 Y - - - - Y - - - 0.986 Y Y 7 Y 5 - 2 0 0 Probably a rare nonpathogenic polymorphism. MYL10 Asp177Asn D177N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - MYL10 Gly24Glu G24E not reviewed Insufficiently evaluated not reviewed unknown Array rs73415223 16 760 0.0210526 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 2 N - - MYL5 Thr86Ile T86I not reviewed Insufficiently evaluated not reviewed unknown Array rs61748885 75 10748 0.00697804 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - MYL5 Phe88Ser F88S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10746 0.00642099 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 4 - - MYL5 Met111Leu M111L not reviewed Insufficiently evaluated not reviewed unknown Array rs73792337 119 9918 0.0119984 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - MYL5 Glu123Val E123V not reviewed Insufficiently evaluated not reviewed unknown Array 73 9884 0.00738567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - MYL6 Val145Leu V145L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MYLIP Asn342Ser N342S not reviewed Insufficiently evaluated not reviewed unknown Array rs9370867 6635 10758 0.61675 48 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYLK Val1243Gly V1243G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYLK Val1312Gly V1312G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.468 - - 8 Y 1 N - - MYLK Thr1016Ala T1016A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYLK Thr1085Ala T1085A not reviewed Insufficiently evaluated not reviewed unknown Array 713 10758 0.0662763 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - MYLK Glu1066Gln E1066Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 1 N - - MYLK Glu997Gln E997Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYLK Asp845Glu D845E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYLK Asp914Glu D914E not reviewed Insufficiently evaluated not reviewed unknown Array rs3732487 552 10758 0.0513107 12 0 16 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - MYLK Leu792Pro L792P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYLK Leu861Pro L861P not reviewed Insufficiently evaluated not reviewed unknown Array rs3732486 1101 10758 0.102342 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYLK Val640Met V640M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - MYLK Val709Met V709M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYLK Leu496Val L496V not reviewed Insufficiently evaluated not reviewed unknown Array rs9833275 10743 10758 0.998606 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYLK Val261Ala V261A not reviewed Insufficiently evaluated not reviewed unknown Array rs3796164 1711 10758 0.159044 25 0 33 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - MYLK Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array rs9840993 9367 10758 0.870701 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYLK Pro21His P21H not reviewed Insufficiently evaluated not reviewed unknown Array rs28497577 2030 10758 0.188697 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - MYLK3 Val180Leu V180L not reviewed Insufficiently evaluated not reviewed unknown Array rs28407821 4881 10758 0.453709 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 1 N - - MYLK4 Thr126Met T126M not reviewed Insufficiently evaluated not reviewed unknown Array rs34953021 828 10758 0.076966 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - MYLK4 Gly50Arg G50R not reviewed Insufficiently evaluated not reviewed unknown Array rs2296356 1161 10758 0.10792 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - MYO10 Ser1663Thr S1663T not reviewed Insufficiently evaluated not reviewed unknown Array rs25901 7322 9716 0.753602 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYO10 Val1395Met V1395M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10352 0.000676197 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO10 Arg700Gln R700Q not reviewed Insufficiently evaluated not reviewed unknown Array rs26740 609 10294 0.0591607 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO10 Arg324Trp R324W not reviewed Insufficiently evaluated not reviewed unknown Array rs11750538 5227 9830 0.53174 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYO10 His148Tyr H148Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7737765 1551 10566 0.146792 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYO10 Val32Ile V32I not reviewed Insufficiently evaluated not reviewed unknown Array rs17707947 59 10094 0.00584506 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO15A Ala595Thr A595T not reviewed Insufficiently evaluated not reviewed unknown Array rs2955365 2979 8804 0.338369 21 0 31 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - MYO15A Trp718Gly W718G not reviewed Insufficiently evaluated not reviewed unknown Array rs2955367 866 4934 0.175517 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - MYO15A Pro894Ser P894S not reviewed Insufficiently evaluated not reviewed unknown Array 27 7044 0.00383305 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MYO15A Pro1687Leu P1687L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10264 0.000389711 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MYO15A Cys1977Arg C1977R not reviewed Insufficiently evaluated not reviewed unknown Array rs854777 8085 10038 0.805439 3 0 5 0 0 2 Y - - - - - - - - - - Y - - - - Y - 8 Y 1 N - - MYO15A Gly2018Arg G2018R not reviewed Insufficiently evaluated not reviewed unknown Array 1257 10246 0.122682 2 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - MYO15A Ala2490Thr A2490T not reviewed Insufficiently evaluated not reviewed unknown Array 378 10134 0.0373002 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - MYO15A Tyr2682Phe Y2682F not reviewed Insufficiently evaluated not reviewed unknown Array rs712270 3350 9750 0.34359 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 2 - - MYO15A Ser2907Thr S2907T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MYO16 Asp181Glu D181E not reviewed Insufficiently evaluated not reviewed unknown Array rs911973 249 10758 0.0231456 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - MYO16 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array rs41308564 246 10758 0.0228667 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - MYO16 Val339Ile V339I not reviewed Insufficiently evaluated not reviewed unknown Array rs405397 309 10758 0.0287228 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - MYO16 Met385Thr M385T not reviewed Insufficiently evaluated not reviewed unknown Array rs16973313 1406 10758 0.130693 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - MYO16 Pro831Ala P831A not reviewed Insufficiently evaluated not reviewed unknown Array rs3825491 3901 10758 0.362614 34 0 42 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 1 N - - MYO16 Ile1171Met I1171M not reviewed Insufficiently evaluated not reviewed unknown Array rs157024 1382 10758 0.128463 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYO18A Ala958Val A958V not reviewed Insufficiently evaluated not reviewed unknown Array rs8076604 4250 9908 0.428946 47 0 65 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 1 N - - MYO18A His384Tyr H384Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28556759 202 10348 0.0195207 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - MYO18B Ile3Met I3M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734946 1502 10710 0.140243 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - MYO18B Ser25Leu S25L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9724 0.000102838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - MYO18B Gly44Glu G44E not reviewed Insufficiently evaluated not reviewed unknown Array rs133885 5618 9770 0.575026 47 0 73 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MYO18B Ile123Ser I123S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.109 - - 5 Y 0 N - - MYO18B Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array rs13058434 612 9880 0.0619433 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - MYO18B Arg324Ser R324S not reviewed Insufficiently evaluated not reviewed unknown Array rs58746292 120 9958 0.0120506 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.959 - - 3 - 2 N - - MYO18B Trp547Cys W547C not reviewed Insufficiently evaluated not reviewed unknown Array rs3859866 9951 10172 0.978274 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYO18B Trp661Arg W661R not reviewed Insufficiently evaluated not reviewed unknown Array rs5761170 10037 10324 0.972201 51 0 98 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYO18B Ser925Leu S925L not reviewed Insufficiently evaluated not reviewed unknown Array rs9624909 2066 9932 0.208015 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.419 - - 6 Y 0 N - - MYO18B His1119Gln H1119Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5761268 6404 9984 0.641426 47 0 67 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MYO18B Ser1444Thr S1444T not reviewed Insufficiently evaluated not reviewed unknown Array rs33928909 361 10526 0.034296 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYO18B Gln2347Arg Q2347R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236005 3471 9860 0.352028 35 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO18B Gly2395Ala G2395A not reviewed Insufficiently evaluated not reviewed unknown Array rs6004901 906 9952 0.091037 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MYO18B Gly2513Ser G2513S not reviewed Insufficiently evaluated not reviewed unknown Array rs7284177 682 10218 0.066745 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 3 - - MYO18B Arg2532Gln R2532Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34875296 255 10062 0.0253429 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - MYO19 Leu663Phe L663F not reviewed Insufficiently evaluated not reviewed unknown Array rs2306590 32 128 0.25 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO19 Cys478Arg C478R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743158 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYO19 Arg386Trp R386W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10110 0.00326409 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MYO19 Asn176Ser N176S not reviewed Insufficiently evaluated not reviewed unknown Array rs2306595 372 9988 0.0372447 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - MYO1A Glu1009Ala E1009A not reviewed Insufficiently evaluated not reviewed unknown Array 236 10758 0.0219372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 3 - 0 N - - MYO1A Val999Met V999M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.747 - - 0 - 1 N - - MYO1A Thr996Ile T996I not reviewed Insufficiently evaluated not reviewed unknown Array rs17119344 916 10758 0.0851459 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - MYO1A Asn362Lys N362K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MYO1C Lys823Asn K823N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO1C Lys839Asn K839N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO1C Lys858Asn K858N not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO1C Gln791Arg Q791R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1C Gln807Arg Q807R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1C Gln826Arg Q826R not reviewed Insufficiently evaluated not reviewed unknown Array rs9905106 8316 10516 0.790795 27 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO1C Val760Ile V760I not reviewed Insufficiently evaluated not reviewed unknown Array rs8081370 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO1C Val776Ile V776I not reviewed Insufficiently evaluated not reviewed unknown Array rs8081370 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO1C Val795Ile V795I not reviewed Insufficiently evaluated not reviewed unknown Array rs8081370 9686 10348 0.936026 34 0 65 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MYO1C Ala367Val A367V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO1C Ala383Val A383V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO1C Ala402Val A402V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO1D Arg771His R771H not reviewed Insufficiently evaluated not reviewed unknown Array rs7215958 275 10758 0.0255624 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MYO1G Gln861Arg Q861R not reviewed Insufficiently evaluated not reviewed unknown Array rs7792760 9481 10758 0.881298 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO1G Met489Thr M489T not reviewed Insufficiently evaluated not reviewed unknown Array rs3735485 9472 10756 0.880625 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYO1G Ser104Arg S104R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MYO1G Val49Met V49M not reviewed Insufficiently evaluated not reviewed unknown Array rs61739531 2075 10758 0.19288 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - MYO1H Ser37Arg S37R not reviewed Insufficiently evaluated not reviewed unknown Array rs11611277 1603 10260 0.156238 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYO1H His705Tyr H705Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34725387 7 128 0.0546875 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - MYO1H Arg783Trp R783W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - 7 Y 2 N - - MYO1H Leu1011Pro L1011P not reviewed Insufficiently evaluated not reviewed unknown Array rs3825393 86 128 0.671875 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYO3A Glu22Asp E22D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.04 Y - -2 - 1 N - - MYO3A Thr178Ile T178I not reviewed Insufficiently evaluated not reviewed unknown Array rs33968748 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 3 - 3 N - - MYO3A Arg319His R319H not reviewed Insufficiently evaluated not reviewed unknown Array rs3824700 5245 10758 0.487544 38 0 54 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - MYO3A Ile348Val I348V not reviewed Insufficiently evaluated not reviewed unknown Array rs3824699 7318 10758 0.680238 54 0 88 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - MYO3A Val369Ile V369I not reviewed Insufficiently evaluated not reviewed unknown Array rs35379457 7114 10758 0.661275 44 0 53 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - MYO3A Ala520Val A520V not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.058 Y - 2 - 1 N - - MYO3A Ala833Ser A833S not reviewed Insufficiently evaluated not reviewed unknown Array rs33947968 713 10758 0.0662763 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - -1 - 2 N - - MYO3A Ser956Asn S956N not reviewed Insufficiently evaluated not reviewed unknown Array rs3758449 5599 10758 0.52045 41 0 61 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - MYO3A Thr1284Ser T1284S not reviewed Insufficiently evaluated not reviewed unknown Array rs3740231 4254 10758 0.395427 34 0 48 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -2 - 1 N - - MYO3A Arg1313Ser R1313S not reviewed Insufficiently evaluated not reviewed unknown Array rs1999240 6051 10758 0.562465 50 0 79 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 2 - - MYO3B Lys309Glu K309E not reviewed Insufficiently evaluated not reviewed unknown Array rs4668246 2934 9592 0.30588 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO3B Glu583Lys E583K not reviewed Insufficiently evaluated not reviewed unknown Array 76 9800 0.0077551 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MYO3B Val770Ile V770I not reviewed Insufficiently evaluated not reviewed unknown Array rs6736609 8297 9812 0.845597 53 0 88 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MYO3B Glu773Gly E773G not reviewed Insufficiently evaluated not reviewed unknown Array rs33962844 2575 9800 0.262755 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - MYO3B Arg1082Lys R1082K not reviewed Insufficiently evaluated not reviewed unknown Array rs10185178 9036 9858 0.916616 51 0 94 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MYO3B Val1110Ile V1110I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO3B Val1137Ile V1137I not reviewed Insufficiently evaluated not reviewed unknown Array rs34546065 269 9836 0.0273485 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO5A Arg1320Ser R1320S not reviewed Insufficiently evaluated not reviewed unknown Array 306 10000 0.0306 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO5A Arg1246Cys R1246C not reviewed Insufficiently evaluated not reviewed unknown Array rs1058219 1487 10166 0.146272 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MYO5A Ser974Ile S974I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYO5A Met627Thr M627T not reviewed Insufficiently evaluated not reviewed unknown Array rs16964944 554 10218 0.054218 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYO5A Glu362Asp E362D not reviewed Insufficiently evaluated not reviewed unknown Array rs1724577 9148 10046 0.910611 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYO5B Gln1742Glu Q1742E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYO5B Lys1683Arg K1683R not reviewed Insufficiently evaluated not reviewed unknown Array rs9950781 63 10066 0.00625869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MYO5B Ile1657Phe I1657F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO5B Glu1625Stop E1625X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYO5B Leu1500Ile L1500I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10286 9.7219e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYO5B Glu1414Lys E1414K not reviewed Insufficiently evaluated not reviewed unknown Array 6 9904 0.000605815 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO5B Gly1321Glu G1321E not reviewed Insufficiently evaluated not reviewed unknown Array rs1942418 503 9798 0.051337 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MYO5B Arg918His R918H not reviewed Insufficiently evaluated not reviewed unknown Array rs2298624 1014 10202 0.0993923 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYO5B Pro598Leu P598L not reviewed Insufficiently evaluated not reviewed unknown Array 66 10038 0.00657501 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO5B Lys307Asn K307N not reviewed Insufficiently evaluated not reviewed unknown Array rs17659179 452 10082 0.0448324 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO5B Ile296Val I296V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO5B Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array rs1815930 9869 10098 0.977322 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYO5B Cys10Gly C10G not reviewed Insufficiently evaluated not reviewed unknown Array rs16951438 168 9640 0.0174274 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - MYO5C Lys1262Asn K1262N not reviewed Insufficiently evaluated not reviewed unknown Array rs73404874 135 9762 0.0138291 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - MYO5C Glu1075Lys E1075K not reviewed Insufficiently evaluated not reviewed unknown Array rs3825801 747 9774 0.0764273 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MYO5C Val1052Ile V1052I not reviewed Insufficiently evaluated not reviewed unknown Array rs62623565 436 9856 0.044237 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO5C Lys960Glu K960E not reviewed Insufficiently evaluated not reviewed unknown Array rs55753304 159 9502 0.0167333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO5C Ala783Thr A783T not reviewed Insufficiently evaluated not reviewed unknown Array rs55712142 76 10332 0.00735579 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - MYO5C Arg172Cys R172C not reviewed Insufficiently evaluated not reviewed unknown Array rs55686434 374 10450 0.0357895 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 3 - 4 - - MYO6 Asn854Ser N854S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYO6 Asp879Asn D879N not reviewed Insufficiently evaluated not reviewed unknown Array rs60970824 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MYO7A Leu16Ser L16S not reviewed Insufficiently evaluated not reviewed unknown Array rs1052030 4839 10298 0.469897 40 0 59 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 1 - - MYO7A His1029Arg H1029R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10394 0.00144314 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 1 - 4 N - - MYO7A Arg1347Cys R1347C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - MYO7A Ser1628Cys S1628C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MYO7A Ser1666Cys S1666C not reviewed Insufficiently evaluated not reviewed unknown Array rs2276288 6188 10518 0.588325 40 0 65 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 6 - - MYO7A Leu1916Ile L1916I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - MYO7A Leu1954Ile L1954I not reviewed Insufficiently evaluated not reviewed unknown Array rs948962 5659 10314 0.548672 46 0 67 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - MYO7A Asp2102Asn D2102N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MYO7A Asp2142Asn D2142N not reviewed Insufficiently evaluated not reviewed unknown Array rs1132036 254 10000 0.0254 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.385 Y Y -1 - 4 - 2 - - MYO7B Gly21Ser G21S not reviewed Insufficiently evaluated not reviewed unknown Array rs2404991 4005 10112 0.396064 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYO7B Leu1152Val L1152V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744148 755 8708 0.0867019 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - MYO7B Ala1167Val A1167V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745260 55 8848 0.00621609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.504 - - 2 - 1 N - - MYO7B Glu1647Asp E1647D not reviewed Insufficiently evaluated not reviewed unknown Array rs13025959 1552 10448 0.148545 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.136 - - -2 - 0 N - - MYO7B Asp1946Asn D1946N not reviewed Insufficiently evaluated not reviewed unknown Array rs61748909 134 10334 0.0129669 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - MYO7B Gln2105Arg Q2105R not reviewed Insufficiently evaluated not reviewed unknown Array rs11686946 1626 10020 0.162275 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 1 N - - MYO9A Leu2540Val L2540V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MYO9A Ile2390Val I2390V not reviewed Insufficiently evaluated not reviewed unknown Array rs2291280 7 10758 0.000650678 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - MYO9A Ser2178Thr S2178T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYO9A Glu2152Lys E2152K not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO9A His1805Gln H1805Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2306575 197 10758 0.018312 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO9A Pro1476Arg P1476R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - MYO9A Gly1193Glu G1193E not reviewed Insufficiently evaluated not reviewed unknown Array rs2415129 9933 10758 0.923313 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MYO9A Arg1086His R1086H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO9A Val1067Met V1067M not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO9B Glu559Asp E559D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYO9B Glu915Asp E915D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYO9B Ser1011Ala S1011A not reviewed Insufficiently evaluated not reviewed unknown Array rs1545620 5183 9770 0.530502 44 0 70 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYO9B Val1693Ala V1693A not reviewed Insufficiently evaluated not reviewed unknown Array rs7248508 4950 10222 0.48425 34 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOC Lys398Arg K398R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - -3 - 2 - 10 - - MYOCD Leu220Pro L220P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYOCD Leu316Pro L316P not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYOCD Gln551His Q551H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYOCD Gln647His Q647H not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - MYOD1 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOF Arg1770Gln R1770Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYOF Arg1783Gln R1783Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11594445 511 9686 0.0527566 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - MYOF Pro1526Ser P1526S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYOF Pro1539Ser P1539S not reviewed Insufficiently evaluated not reviewed unknown Array rs61861290 127 10270 0.0123661 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - MYOF Arg1386Cys R1386C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYOF Arg1399Cys R1399C not reviewed Insufficiently evaluated not reviewed unknown Array rs11187393 428 9946 0.0430324 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.468 - - 8 Y 1 N - - MYOF Ser1220Thr S1220T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYOF Ser1233Thr S1233T not reviewed Insufficiently evaluated not reviewed unknown Array rs34777013 13 9682 0.0013427 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MYOF Tyr1185Phe Y1185F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYOF Tyr1198Phe Y1198F not reviewed Insufficiently evaluated not reviewed unknown Array rs12256834 469 9516 0.0492854 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYOF Val1123Ile V1123I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYOF Val1136Ile V1136I not reviewed Insufficiently evaluated not reviewed unknown Array rs36032890 259 9614 0.0269399 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.051 - - -4 - 0 N - - MYOG Val80Met V80M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MYOM1 Asp1312Asn D1312N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - MYOM1 Asp1408Asn D1408N not reviewed Insufficiently evaluated not reviewed unknown Array rs3765623 522 9664 0.0540149 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 5 - - MYOM1 Ile864Thr I864T not reviewed Insufficiently evaluated not reviewed unknown Array rs1071600 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYOM1 Ile960Thr I960T not reviewed Insufficiently evaluated not reviewed unknown Array rs1071600 1778 9924 0.179162 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYOM1 Gly341Ala G341A not reviewed Insufficiently evaluated not reviewed unknown Array rs8099021 7520 10072 0.746624 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYOM1 Thr215Met T215M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230165 838 10160 0.0824803 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOM1 Ser181Pro S181P not reviewed Insufficiently evaluated not reviewed unknown Array rs1962519 3432 10076 0.340611 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYOM1 Val22Leu V22L not reviewed Insufficiently evaluated not reviewed unknown Array rs1662316 1001 10432 0.0959548 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYOM2 Ser87Ile S87I not reviewed Insufficiently evaluated not reviewed unknown Array rs35022521 223 10758 0.0207288 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYOM2 Arg159Trp R159W not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYOM2 Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array rs17064618 840 10758 0.0780814 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOM2 Ala219Val A219V not reviewed Insufficiently evaluated not reviewed unknown Array rs34823600 102 10758 0.00948132 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOM2 Val321Leu V321L not reviewed Insufficiently evaluated not reviewed unknown Array rs2272720 3389 10758 0.315021 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYOM2 Val363Ile V363I not reviewed Insufficiently evaluated not reviewed unknown Array rs34316994 329 10758 0.0305819 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - MYOM2 Lys539Asn K539N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYOM2 Gly665Arg G665R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYOM2 Val701Ile V701I not reviewed Insufficiently evaluated not reviewed unknown Array rs35335787 462 10758 0.0429448 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYOM2 Thr776Met T776M not reviewed Insufficiently evaluated not reviewed unknown Array rs2294066 1483 10758 0.137851 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOM2 Ala786Thr A786T not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYOM2 Gly794Trp G794W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYOM2 Asn869Ser N869S not reviewed Insufficiently evaluated not reviewed unknown Array rs968381 4696 10758 0.436512 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYOM2 Pro998Gln P998Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYOM2 Val1168Ala V1168A not reviewed Insufficiently evaluated not reviewed unknown Array rs17854780 949 10758 0.0882134 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOM2 Glu1440Lys E1440K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYOM3 Lys1432Arg K1432R not reviewed Insufficiently evaluated not reviewed unknown Array rs59805085 419 10452 0.040088 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MYOM3 Glu1233Lys E1233K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - MYOM3 Arg1124Gln R1124Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16829071 2130 10082 0.211268 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYOM3 Ile1066Thr I1066T not reviewed Insufficiently evaluated not reviewed unknown Array rs12145360 1508 10054 0.14999 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MYOM3 Phe1041Leu F1041L not reviewed Insufficiently evaluated not reviewed unknown Array rs16829083 111 9850 0.011269 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 2 - 2 - - MYOM3 Asp892Ala D892A not reviewed Insufficiently evaluated not reviewed unknown Array rs36077733 97 10082 0.00962111 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 3 - 1 - - MYOM3 Pro853Ser P853S not reviewed Insufficiently evaluated not reviewed unknown Array rs35446243 1468 9938 0.147716 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.098 - - 3 - 0 N - - MYOM3 Arg775Gln R775Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12082295 256 9996 0.0256102 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.334 - - 0 - 1 N - - MYOM3 Gly662Arg G662R not reviewed Insufficiently evaluated not reviewed unknown Array rs4320729 3092 10158 0.304391 26 0 35 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - MYOM3 Asp528Gly D528G not reviewed Insufficiently evaluated not reviewed unknown Array rs4393101 9611 9820 0.978717 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MYOM3 Gln435Arg Q435R not reviewed Insufficiently evaluated not reviewed unknown Array rs6700245 1777 10236 0.173603 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.721 - - 0 - 0 N - - MYOM3 Met344Thr M344T not reviewed Insufficiently evaluated not reviewed unknown Array rs4233050 4555 9946 0.457973 39 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOM3 Ser295Leu S295L not reviewed Insufficiently evaluated not reviewed unknown Array rs74061490 226 9914 0.022796 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.318 - - 6 Y 1 N - - MYOM3 Thr266Met T266M not reviewed Insufficiently evaluated not reviewed unknown Array rs6678540 3865 9802 0.394307 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYOM3 Asp258His D258H not reviewed Insufficiently evaluated not reviewed unknown Array rs4319261 4661 9718 0.479625 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYOT Gln50Arg Q50R not reviewed Insufficiently evaluated not reviewed unknown Array rs34717730 286 10758 0.0265849 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 0 - 4 N - - MYOT Lys74Gln K74Q benign Insufficiently evaluated benign recessive Array rs6890689 10601 10758 0.985406 80 0 159 2 2 2 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - The A allele is associated with myotilinopathy. It was found in two individuals, one of whom involved weakness of the pectoralis muscles. MYOT Asp217Glu D217E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - MYOT Asp401Glu D401E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y -2 - 4 N - - MYOZ3 Ser161Pro S161P not reviewed Insufficiently evaluated not reviewed unknown Array rs194134 10642 10758 0.989217 49 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MYOZ3 Thr209Asn T209N not reviewed Insufficiently evaluated not reviewed unknown Array rs7737542 1100 10758 0.102249 15 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYPN Val393Ala V393A not reviewed Insufficiently evaluated not reviewed unknown Array rs11596653 1341 10758 0.124651 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MYPN Glu467Lys E467K not reviewed Insufficiently evaluated not reviewed unknown Array rs74143030 529 10758 0.0491727 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.15 - - 0 - 0 N - - MYPN Phe628Leu F628L not reviewed Insufficiently evaluated not reviewed unknown Array rs10823148 4216 10758 0.391894 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - MYPN Ser691Asn S691N not reviewed Insufficiently evaluated not reviewed unknown Array rs10997975 4205 10758 0.390872 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYPN Ser707Asn S707N not reviewed Insufficiently evaluated not reviewed unknown Array rs7916821 4204 10758 0.390779 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MYPN Ser803Arg S803R not reviewed Insufficiently evaluated not reviewed unknown Array rs3814182 5621 10758 0.522495 42 0 55 0 0 - - - - - - - - - - - - - - - - 0.097 - - 3 - 0 N - - MYPN Pro1135Thr P1135T not reviewed Insufficiently evaluated not reviewed unknown Array rs7079481 4353 10758 0.404629 32 0 41 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - MYRIP Ala312Thr A312T not reviewed Insufficiently evaluated not reviewed unknown Array rs59923220 878 10758 0.0816137 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYRIP Pro365Leu P365L not reviewed Insufficiently evaluated not reviewed unknown Array rs55785561 637 10758 0.0592117 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.889 - - 7 Y 1 N - - MYRIP Pro673Ser P673S not reviewed Insufficiently evaluated not reviewed unknown Array rs34800524 662 10758 0.0615356 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - MYSM1 Glu825Lys E825K not reviewed Insufficiently evaluated not reviewed unknown Array rs232777 2243 9448 0.237405 29 0 33 0 0 - - - - - - - - - - - - - - - - 0.641 - - 0 - 0 N - - MYSM1 Thr264Ala T264A not reviewed Insufficiently evaluated not reviewed unknown Array rs12139511 5652 9536 0.592701 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYSM1 Cys200Ser C200S not reviewed Insufficiently evaluated not reviewed unknown Array rs17118103 1089 9678 0.112523 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - MYST1 Ile454Met I454M not reviewed Insufficiently evaluated not reviewed unknown Array rs17855606 2340 10396 0.225087 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYST3 Val1193Ile V1193I not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYST3 Leu134Ser L134S not reviewed Insufficiently evaluated not reviewed unknown Array rs3824276 890 10758 0.0827291 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MYST4 Ala1217Ser A1217S not reviewed Insufficiently evaluated not reviewed unknown Array rs57372986 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 1 - 2 - - MYST4 Val1499Ile V1499I not reviewed Insufficiently evaluated not reviewed unknown Array rs3740321 274 10758 0.0254694 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 0 N - - MZF1 Lys471Asn K471N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MZF1 Ile331Val I331V not reviewed Insufficiently evaluated not reviewed unknown Array rs4756 3757 10720 0.350466 30 0 41 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MZF1 Arg130Gln R130Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3752111 256 10384 0.0246533 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MZF1 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - MZF1 Arg51His R51H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752109 2300 10754 0.213874 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - N-PAC His459Gln H459Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - N4BP2 Ser101Ile S101I not reviewed Insufficiently evaluated not reviewed unknown Array rs17511668 1772 10758 0.164715 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - N4BP2 Glu118Lys E118K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748746 706 10758 0.0656256 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.565 - - 0 - 0 N - - N4BP2 Met196Val M196V not reviewed Insufficiently evaluated not reviewed unknown Array rs10014170 346 10740 0.032216 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 1 - 3 - - N4BP2 Ala277Pro A277P not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - N4BP2 Asp611Asn D611N not reviewed Insufficiently evaluated not reviewed unknown Array rs794001 7836 10510 0.745576 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - N4BP2 Met882Ile M882I not reviewed Insufficiently evaluated not reviewed unknown Array 256 10756 0.0238007 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - N4BP2 Ser1353Arg S1353R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748749 709 10758 0.0659044 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - N4BP2 Thr1587Ala T1587A not reviewed Insufficiently evaluated not reviewed unknown Array rs2271395 397 10758 0.0369028 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 1 N - - N4BP2L2 Asn544Ser N544S not reviewed Insufficiently evaluated not reviewed unknown Array rs3742318 1967 9562 0.20571 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - N4BP2L2 Tyr272His Y272H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - N4BP3 Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3812082 1731 10608 0.163179 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - N6AMT1 Lys138Arg K138R not reviewed Insufficiently evaluated not reviewed unknown Array rs2205446 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - N6AMT1 Lys166Arg K166R not reviewed Insufficiently evaluated not reviewed unknown Array rs2205446 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - N6AMT1 Lys118Arg K118R not reviewed Insufficiently evaluated not reviewed unknown Array rs2205447 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - N6AMT1 Lys146Arg K146R not reviewed Insufficiently evaluated not reviewed unknown Array rs2205447 120 120 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - N6AMT1 Ala61Ser A61S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735765 1352 10758 0.125674 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - N6AMT1 Asn34Asp N34D not reviewed Insufficiently evaluated not reviewed unknown Array rs1997607 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - N6AMT1 Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735766 431 10746 0.0401079 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - NAAA Phe334Leu F334L not reviewed Insufficiently evaluated not reviewed unknown Array rs6823734 7319 9558 0.765746 46 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NAAA Ser225Asn S225N not reviewed Insufficiently evaluated not reviewed unknown Array rs61735952 378 10050 0.0376119 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAAA Arg153His R153H not reviewed Insufficiently evaluated not reviewed unknown Array rs73825584 142 9644 0.0147242 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - NAAA Val151Ile V151I not reviewed Insufficiently evaluated not reviewed unknown Array rs4859571 1806 9646 0.187228 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NAALAD2 Val101Ile V101I not reviewed Insufficiently evaluated not reviewed unknown Array rs11018879 292 10758 0.0271426 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - NAALAD2 Glu181Gly E181G not reviewed Insufficiently evaluated not reviewed unknown Array 547 10758 0.0508459 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.073 - - 6 Y 0 N - - NAALAD2 Thr187Ile T187I not reviewed Insufficiently evaluated not reviewed unknown Array 295 10756 0.0274266 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.668 - - 3 - 1 N - - NAALAD2 Val204Ala V204A not reviewed Insufficiently evaluated not reviewed unknown Array rs73543373 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 2 N - - NAALAD2 Thr379Ala T379A not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - NAALAD2 Ile446Val I446V not reviewed Insufficiently evaluated not reviewed unknown Array rs10830430 1835 10746 0.170761 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NAALADL1 Val385Ile V385I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - NAALADL2 Gly68Ser G68S not reviewed Insufficiently evaluated not reviewed unknown Array rs9823911 3436 9750 0.35241 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NAALADL2 Ile128Met I128M not reviewed Insufficiently evaluated not reviewed unknown Array rs9836841 3825 9568 0.39977 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NAALADL2 Met194Thr M194T not reviewed Insufficiently evaluated not reviewed unknown Array rs4371530 6671 9550 0.698534 47 0 70 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NAALADL2 Pro385Ser P385S not reviewed Insufficiently evaluated not reviewed unknown Array rs6802937 9721 9726 0.999486 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NAALADL2 Pro622Arg P622R not reviewed Insufficiently evaluated not reviewed unknown Array rs9866564 6837 9440 0.724258 52 0 89 0 0 - - - - - - - - - - - - - - - - 0.797 - - 5 Y 0 N - - NAALADL2 Leu677Ser L677S not reviewed Insufficiently evaluated not reviewed unknown Array rs9826737 9496 9954 0.953988 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NACA Leu1841Pro L1841P not reviewed Insufficiently evaluated not reviewed unknown Array rs2958149 6061 7820 0.775064 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NACA Ser1795Thr S1795T not reviewed Insufficiently evaluated not reviewed unknown Array rs2926747 4653 7820 0.595013 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NACA Phe405Ser F405S not reviewed Insufficiently evaluated not reviewed unknown Array rs2926743 6068 7820 0.775959 56 0 95 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NACA Val336Glu V336E not reviewed Insufficiently evaluated not reviewed unknown Array rs2958127 4396 7820 0.562148 46 0 69 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NACA Lys149Glu K149E not reviewed Insufficiently evaluated not reviewed unknown Array rs17118953 643 7820 0.0822251 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - NACA2 Arg197Stop R197X not reviewed Insufficiently evaluated not reviewed unknown Array rs17610181 1301 10758 0.120933 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - NACA2 Thr174Arg T174R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739273 1301 10758 0.120933 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 0 N - - NACA2 Val64Ile V64I not reviewed Insufficiently evaluated not reviewed unknown Array rs17531723 1235 10758 0.114798 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - NACAD Cys1152Phe C1152F not reviewed Insufficiently evaluated not reviewed unknown Array rs3735493 495 3232 0.153156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NACAD Asp1105Glu D1105E not reviewed Insufficiently evaluated not reviewed unknown Array rs10243185 1506 3234 0.465677 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NACAD Ala1019Val A1019V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740895 968 3234 0.29932 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.366 - - 2 - 0 N - - NACAD Gly913Ser G913S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NACAD Pro897Ser P897S not reviewed Insufficiently evaluated not reviewed unknown Array 587 2356 0.249151 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NACAD Ser894Leu S894L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NACAD Pro865Leu P865L not reviewed Insufficiently evaluated not reviewed unknown Array rs10276874 91 862 0.105568 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - NACAD Pro857Ser P857S not reviewed Insufficiently evaluated not reviewed unknown Array 19 236 0.0805085 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - NACAD Ser854Leu S854L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 1 - - NACAD Ala841Val A841V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NACAD Ile825Leu I825L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - NACAD Pro817Ser P817S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - NACAD Ser814Leu S814L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - NACAD Ile785Leu I785L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - NACAD Ser774Leu S774L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - NACAD Ser707Pro S707P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - NACAD Asp692Glu D692E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - -2 - 2 N - - NACAD Ala681Val A681V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 2 - 0 N - - NACAD Ser667Pro S667P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACAD Leu665Ile L665I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - -2 - 1 N - - NACAD Glu652Asp E652D not reviewed Insufficiently evaluated not reviewed unknown Array 572 2356 0.242784 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NACAD Val641Ala V641A not reviewed Insufficiently evaluated not reviewed unknown Array 214 3016 0.0709549 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NACAD Lys591Glu K591E not reviewed Insufficiently evaluated not reviewed unknown Array rs7777835 2211 3234 0.683673 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NACAD Val498Ala V498A not reviewed Insufficiently evaluated not reviewed unknown Array rs3735494 1176 3234 0.363636 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NACAD Asp438Glu D438E not reviewed Insufficiently evaluated not reviewed unknown Array rs3735495 1056 3234 0.326531 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NACAD Asp296Asn D296N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - -1 - 2 N - - NACAD Pro112Leu P112L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - NACAD Leu111Arg L111R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - NACAD Glu98Val E98V not reviewed Insufficiently evaluated not reviewed unknown Array 49 3224 0.0151985 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 2 N - - NACAD Ala84Val A84V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NACAD Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 2736 0.00511696 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.204 - - 0 - 1 N - - NACC2 Ala486Thr A486T not reviewed Insufficiently evaluated not reviewed unknown Array rs7043846 276 10356 0.0266512 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NADK Asn262Lys N262K not reviewed Insufficiently evaluated not reviewed unknown Array rs4751 3370 10758 0.313255 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.489 - - 1 - 0 N - - NADSYN1 Val74Leu V74L not reviewed Insufficiently evaluated not reviewed unknown Array rs2276360 6840 10758 0.635806 47 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NADSYN1 Thr155Asn T155N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - NADSYN1 Gln204His Q204H not reviewed Insufficiently evaluated not reviewed unknown Array rs7950441 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NADSYN1 Pro297Leu P297L not reviewed Insufficiently evaluated not reviewed unknown Array rs7121106 865 10758 0.0804053 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - NADSYN1 Arg381Trp R381W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.666 - - 7 Y 1 N - - NAE1 Ser101Phe S101F not reviewed Insufficiently evaluated not reviewed unknown Array rs363212 69 10754 0.00641622 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.258 - - 5 Y 2 - 3 - - NAE1 Ser12Phe S12F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - NAE1 Ser95Phe S95F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - NAF1 Leu368Val L368V not reviewed Insufficiently evaluated not reviewed unknown Array rs4691895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAF1 Ile162Val I162V not reviewed Insufficiently evaluated not reviewed unknown Array rs4691896 8352 10758 0.776352 48 0 78 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NAF1 Ser89Leu S89L not reviewed Insufficiently evaluated not reviewed unknown Array 42 9650 0.00435233 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAGLU Arg737Gly R737G benign Insufficiently evaluated benign recessive Array rs86312 9089 10758 0.84486 49 0 90 1 1 1 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - NAGPA Thr465Ile T465I not reviewed Insufficiently evaluated not reviewed unknown Array rs7188856 2911 10756 0.27064 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NAGPA Ser28Leu S28L not reviewed Insufficiently evaluated not reviewed unknown Array 82 9660 0.00848861 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAIP Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array rs61757629 213 10750 0.019814 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NALCN Gly1652Glu G1652E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - NANOG Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NANOG Lys82Asn K82N not reviewed Insufficiently evaluated not reviewed unknown Array rs2889551 5002 10746 0.465476 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NANOS1 Ser79Thr S79T not reviewed Insufficiently evaluated not reviewed unknown Array 122 4874 0.0250308 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NANS Glu68Asp E68D not reviewed Insufficiently evaluated not reviewed unknown Array rs1058446 2467 10758 0.229318 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NAP1L3 Pro224Ala P224A not reviewed Insufficiently evaluated not reviewed unknown Array rs1045686 5319 8761 0.607122 44 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NAP1L3 Ser64Gly S64G not reviewed Insufficiently evaluated not reviewed unknown Array 95 7397 0.012843 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - NAP5 Pro1578Gln P1578Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NAP5 Val1403Ala V1403A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - NAP5 Pro1260Gln P1260Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NAP5 Pro1224Ser P1224S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAP5 Asn1093Tyr N1093Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NAP5 Ile977Thr I977T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAP5 Val937Ile V937I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAP5 Val604Met V604M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAP5 Ser600Thr S600T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAPEPLD Asp389Asn D389N not reviewed Insufficiently evaluated not reviewed unknown Array rs3181009 9210 10754 0.856426 52 0 92 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - NAPEPLD Ser152Ala S152A not reviewed Insufficiently evaluated not reviewed unknown Array rs12540583 1030 10758 0.0957427 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NAPSA Ala310Thr A310T not reviewed Insufficiently evaluated not reviewed unknown Array rs11670727 422 10758 0.0392266 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - NAPSA Ile40Thr I40T not reviewed Insufficiently evaluated not reviewed unknown Array rs676314 4336 10758 0.403049 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NAPSA Ser22Ala S22A not reviewed Insufficiently evaluated not reviewed unknown Array rs73932472 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NARFL His444Arg H444R not reviewed Insufficiently evaluated not reviewed unknown Array rs7188554 679 10750 0.0631628 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NARFL Val38Met V38M not reviewed Insufficiently evaluated not reviewed unknown Array rs8045850 246 10758 0.0228667 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 3 - - NARG1L Asn335Ser N335S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NARG1L Glu344Gly E344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NARG1L Pro653Thr P653T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NARS2 Asn87Thr N87T not reviewed Insufficiently evaluated not reviewed unknown Array rs10501429 8494 10758 0.789552 51 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NASP Pro411Leu P411L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NASP Pro750Leu P750L not reviewed Insufficiently evaluated not reviewed unknown Array rs72883665 69 10758 0.00641383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 7 Y 1 N - - NASP Pro752Leu P752L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAT1 Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4986782 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - NAT1 Arg249Gln R249Q not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAT10 Tyr389His Y389H not reviewed Insufficiently evaluated not reviewed unknown Array rs2957516 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAT10 Tyr461His Y461H not reviewed Insufficiently evaluated not reviewed unknown Array rs2957516 10730 10758 0.997397 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NAT10 Ala911Thr A911T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAT10 Ala983Thr A983T not reviewed Insufficiently evaluated not reviewed unknown Array rs36006049 74 10758 0.0068786 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAT14 Ala187Val A187V not reviewed Insufficiently evaluated not reviewed unknown Array 1373 9320 0.147318 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - NAT15 Val26Leu V26L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - NAT2 Arg64Gln R64Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801279 301 10758 0.0279792 10 0 10 0 0 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - NAT2 Ile114Thr I114T pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs1801280 4283 10758 0.398122 28 0 34 1 1 2 Y - - - - - - - - - - - Y - Y - - - 3 - 2 N - - NAT2 Arg197Gln R197Q pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs1799930 3031 10758 0.281744 26 0 28 1 1 - - - - - - - - - - - - - Y - Y - - - 0 - 2 N - - This allele characterizes the NAT2*6A haplotype which causes slow acetylation. NAT2 Pro228Leu P228L not reviewed Insufficiently evaluated not reviewed unknown Array rs45518335 23 10756 0.00213834 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 8 - - NAT2 Arg268Lys R268K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1208 6249 10756 0.580978 48 0 73 1 1 - - - - - - - - - - - - - - - Y - - - -3 - 1 N - - NAT2 Val280Met V280M not reviewed Insufficiently evaluated not reviewed unknown Array rs56393504 111 10708 0.0103661 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - NAT2 Gly286Glu G286E pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs1799931 247 10654 0.0231838 7 0 7 1 1 - - - - - - - - - - - - - Y - Y - - - 6 Y 3 N - - This variant represents the NAT2*7B haplotytype. NAT5 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - NAT6 Arg244Trp R244W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - NAT6 Ser111Phe S111F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - NAT8 Phe143Ser F143S not reviewed Insufficiently evaluated not reviewed unknown Array rs13538 3464 10758 0.321993 26 0 36 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NAT8B Gly112Ala G112A not reviewed Insufficiently evaluated not reviewed unknown Array rs2001490 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAT8B Arg23Gly R23G not reviewed Insufficiently evaluated not reviewed unknown Array rs2012574 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAT8B Tyr9His Y9H not reviewed Insufficiently evaluated not reviewed unknown Array rs6748684 297 10656 0.0278716 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAT9 Ala81Thr A81T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAT9 Gln78Arg Q78R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.551 - - 0 - 1 N - - NAT9 Cys56Arg C56R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305213 1291 10758 0.120004 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NAV1 Gln250His Q250H not reviewed Insufficiently evaluated not reviewed unknown Array rs74136656 88 10516 0.0083682 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - NAV1 Ser1270Leu S1270L not reviewed Insufficiently evaluated not reviewed unknown Array rs2820289 590 10758 0.0548429 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - NAV1 His1287Asp H1287D not reviewed Insufficiently evaluated not reviewed unknown Array rs2292822 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAV1 Ile1615Thr I1615T not reviewed Insufficiently evaluated not reviewed unknown Array rs74136675 701 10758 0.0651608 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NAV2 Arg109Lys R109K not reviewed Insufficiently evaluated not reviewed unknown Array rs6483617 4678 10758 0.434839 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NAV2 Arg45Lys R45K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NAV2 Gln404His Q404H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAV2 Gln468His Q468H not reviewed Insufficiently evaluated not reviewed unknown Array rs16937251 234 10758 0.0217513 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAV2 Glu1018Asp E1018D not reviewed Insufficiently evaluated not reviewed unknown Array rs3802799 1580 10758 0.146867 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NAV2 Glu104Asp E104D not reviewed Insufficiently evaluated not reviewed unknown Array rs3802799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAV2 Glu954Asp E954D not reviewed Insufficiently evaluated not reviewed unknown Array rs3802799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAV2 Pro1054Ala P1054A not reviewed Insufficiently evaluated not reviewed unknown Array rs3802800 9561 10758 0.888734 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NAV2 Pro140Ala P140A not reviewed Insufficiently evaluated not reviewed unknown Array rs3802800 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - NAV2 Pro990Ala P990A not reviewed Insufficiently evaluated not reviewed unknown Array rs3802800 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAV2 Ala1313Thr A1313T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAV2 Ala1377Thr A1377T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAV2 Ala463Thr A463T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAV2 Val1379Ile V1379I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAV2 Val2251Ile V2251I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAV2 Val2315Ile V2315I not reviewed Insufficiently evaluated not reviewed unknown Array rs35891966 495 10758 0.0460123 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAV2 Val2318Ile V2318I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAV3 Thr45Ala T45A not reviewed Insufficiently evaluated not reviewed unknown Array rs10735309 9487 9746 0.973425 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NAV3 Ala495Val A495V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAV3 Asp971Glu D971E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAV3 Ser1168Thr S1168T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - -2 - 1 N - - NAV3 Gly1706Glu G1706E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - 6 Y 0 N - - NBAS Ala2271Val A2271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - NBAS Ala2074Thr A2074T not reviewed Insufficiently evaluated not reviewed unknown Array rs6710817 967 10758 0.0898866 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NBAS Cys1453Trp C1453W not reviewed Insufficiently evaluated not reviewed unknown Array rs34962722 257 10758 0.0238892 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - NBAS Cys1009Ser C1009S not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NBAS Arg1004Gln R1004Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16862653 679 10758 0.0631158 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - NBAS Val949Leu V949L not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBAS Gly703Ala G703A not reviewed Insufficiently evaluated not reviewed unknown Array rs57920974 100 10726 0.00932314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - NBAS Lys655Arg K655R not reviewed Insufficiently evaluated not reviewed unknown Array rs4668909 5619 10756 0.522406 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NBAS Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array rs13029846 5899 10758 0.548336 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NBAS Gln44Glu Q44E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NBEA Pro210Ser P210S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBEA Ser1502Gly S1502G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBEA Ile2501Val I2501V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NBEAL1 Leu2221Pro L2221P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - NBEAL1 Leu931Pro L931P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBEAL1 Ile1040Val I1040V not reviewed Insufficiently evaluated not reviewed unknown Array rs4675323 106 126 0.84127 49 0 84 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NBEAL1 Ile2330Val I2330V not reviewed Insufficiently evaluated not reviewed unknown Array rs4675323 8490 9508 0.892932 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NBEAL2 Arg447His R447H not reviewed Insufficiently evaluated not reviewed unknown Array rs17079425 218 10282 0.0212021 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - NBEAL2 Arg511Gly R511G not reviewed Insufficiently evaluated not reviewed unknown Array rs11720139 2983 9824 0.303644 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.778 - - 6 Y 0 N - - NBEAL2 Ser2054Phe S2054F not reviewed Insufficiently evaluated not reviewed unknown Array rs2305637 1281 10002 0.128074 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 1 N - - NBN Glu185Gln E185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1805794 3063 10758 0.284718 39 0 51 3 3 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 10 - - NBPF1 Gln1127Glu Q1127E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NBPF1 Thr1089Ser T1089S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NBPF1 Cys1075Tyr C1075Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56400463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBPF1 Ala1064Val A1064V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBPF1 Arg1040Stop R1040X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - NBPF1 Lys850Gln K850Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NBPF1 Asp712His D712H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 3 - 2 - - NBPF1 Asn666Ser N666S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF1 Cys663Arg C663R not reviewed Insufficiently evaluated not reviewed unknown Array rs61772339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NBPF1 Asn602Tyr N602Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61772344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF1 Ile562Met I562M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBPF1 Thr239Ala T239A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBPF1 Ser216Gly S216G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBPF1 Lys135Glu K135E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - NBPF10 Pro7His P7H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF10 Asn37Ser N37S not reviewed Insufficiently evaluated not reviewed unknown Array rs12565078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7526045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Asp134Tyr D134Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6663523 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF10 Ile291Met I291M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBPF10 Phe632Leu F632L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Leu670Trp L670W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF10 Thr717Ile T717I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBPF10 Gly1360Glu G1360E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBPF10 Asn1444Asp N1444D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBPF10 His2865Arg H2865R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBPF10 Lys3072Glu K3072E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Asp3217Tyr D3217Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF10 Pro3486Arg P3486R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF10 Glu3514Lys E3514K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Glu3555Ala E3555A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBPF11 Tyr661His Y661H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBPF11 Arg271Leu R271L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBPF14 Ile861Val I861V not reviewed Insufficiently evaluated not reviewed unknown Array 115 10138 0.0113435 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NBPF14 Arg646Cys R646C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - NBPF14 Val576Leu V576L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF14 Leu574Trp L574W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF14 Arg571Cys R571C not reviewed Insufficiently evaluated not reviewed unknown Array 559 2008 0.278386 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NBPF14 Gln464Leu Q464L not reviewed Insufficiently evaluated not reviewed unknown Array 154 3940 0.0390863 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF14 Asn333Asp N333D not reviewed Insufficiently evaluated not reviewed unknown Array 63 4290 0.0146853 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBPF14 Ser176Pro S176P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - NBPF15 Ser616Leu S616L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10754 0.00418449 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NBPF15 Tyr618Phe Y618F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10690 0.00112254 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - -4 - 1 N - - NBPF15 Tyr633Stop Y633X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10692 0.000374111 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NBPF16 Ser616Leu S616L not reviewed Insufficiently evaluated not reviewed unknown Array 392 4018 0.097561 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - NBPF16 Tyr618Phe Y618F not reviewed Insufficiently evaluated not reviewed unknown Array 354 3878 0.0912842 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - -4 - 1 N - - NBPF16 Tyr633Stop Y633X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NBPF16 Asp449Gly D449G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NBPF16 Gln533Leu Q533L not reviewed Insufficiently evaluated not reviewed unknown Array 50 552 0.0905797 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - NBPF16 Asn592Ser N592S not reviewed Insufficiently evaluated not reviewed unknown Array 1746 8130 0.21476 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NBPF20 Val3Gly V3G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NBPF20 Ile68Thr I68T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - NBPF20 Gln92Arg Q92R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - NBPF20 Arg167Stop R167X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NBPF20 Ser195Arg S195R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBPF20 Arg215Trp R215W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF20 Pro324Ala P324A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBPF20 Leu748His L748H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBPF20 Ser943Gly S943G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBPF3 Arg41Pro R41P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF3 Tyr114Cys Y114C not reviewed Insufficiently evaluated not reviewed unknown Array rs1827293 4725 10758 0.439208 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - NBPF3 Glu141Asp E141D not reviewed Insufficiently evaluated not reviewed unknown Array rs72872292 702 10758 0.0652538 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - NBPF3 Asn180Ser N180S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - NBPF3 Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16825377 356 10758 0.0330917 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - NBPF3 Gln212Glu Q212E not reviewed Insufficiently evaluated not reviewed unknown Array rs72872297 703 10758 0.0653467 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 1 N - - NBPF3 Glu398Asp E398D not reviewed Insufficiently evaluated not reviewed unknown Array rs72874208 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 1 - 1 - - NBPF3 Phe429Cys F429C not reviewed Insufficiently evaluated not reviewed unknown Array rs3820294 46 124 0.370968 30 0 30 0 0 - - - - - - - - - - - - - - - - 0.426 - - 4 Y 0 N - - NBPF3 Glu430Gly E430G not reviewed Insufficiently evaluated not reviewed unknown Array rs3820292 47 124 0.379032 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NBPF3 Asp444Glu D444E not reviewed Insufficiently evaluated not reviewed unknown Array rs56119644 1223 10276 0.119015 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - NBPF3 Leu459Val L459V not reviewed Insufficiently evaluated not reviewed unknown Array rs12034222 1312 10144 0.129338 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NBPF3 Lys548Asn K548N not reviewed Insufficiently evaluated not reviewed unknown Array 658 1262 0.521395 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NBPF4 Gln494Arg Q494R not reviewed Insufficiently evaluated not reviewed unknown Array 425 3234 0.131416 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NBPF6 Ala617Thr A617T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBPF6 Ala646Thr A646T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBPF7 Lys255Glu K255E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - NBPF7 Arg134Trp R134W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.388 - - 7 Y 1 N - - NBPF7 Ile40Met I40M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - NBR1 Pro348Thr P348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NBR1 Glu349Stop E349X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NBR1 His923Arg H923R not reviewed Insufficiently evaluated not reviewed unknown Array rs8482 2408 7816 0.308086 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NCAM1 Phe7Ser F7S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NCAM1 Trp541Gly W541G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCAM1 Trp551Gly W551G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCAM1 Arg569Stop R569X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NCAM1 Arg579Stop R579X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NCAM2 Asp347Asn D347N not reviewed Insufficiently evaluated not reviewed unknown Array rs35654962 147 9772 0.015043 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - NCAM2 Leu350Pro L350P not reviewed Insufficiently evaluated not reviewed unknown Array rs232518 3461 9726 0.35585 34 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NCAN Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - NCAN Asp704Glu D704E not reviewed Insufficiently evaluated not reviewed unknown Array rs2228602 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 3 - 1 - - NCAPD2 Val23Leu V23L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753197 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - NCAPD2 Gln83Glu Q83E not reviewed Insufficiently evaluated not reviewed unknown Array rs714774 8549 10758 0.794664 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NCAPD2 Thr635Pro T635P not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - 4 Y 1 N - - NCAPD2 Val797Met V797M not reviewed Insufficiently evaluated not reviewed unknown Array rs10849482 1886 10758 0.175311 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - NCAPD2 Pro836Leu P836L not reviewed Insufficiently evaluated not reviewed unknown Array rs73259178 138 10758 0.0128277 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - NCAPD2 Thr1321Ser T1321S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240871 1514 10758 0.140732 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NCAPD3 His1407Gln H1407Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35943668 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - -1 - 1 N - - NCAPD3 Lys1359Gln K1359Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58640467 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.707 - - -2 - 1 N - - NCAPD3 Pro1298Leu P1298L not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - NCAPD3 Ser1034Arg S1034R not reviewed Insufficiently evaluated not reviewed unknown Array rs7927108 323 10758 0.0300242 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - NCAPD3 Gly576Asp G576D not reviewed Insufficiently evaluated not reviewed unknown Array rs73603039 74 10758 0.0068786 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - NCAPD3 Ile42Thr I42T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 3 - 1 N - - NCAPG Val180Ala V180A not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - NCAPG Met581Ile M581I not reviewed Insufficiently evaluated not reviewed unknown Array rs3795243 1288 10758 0.119725 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.183 - - -1 - 0 N - - NCAPG Thr851Ala T851A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NCAPG2 Asp952Glu D952E not reviewed Insufficiently evaluated not reviewed unknown Array 1 9670 0.000103412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.88 - - -2 - 2 N - - NCAPG2 Glu867Asp E867D not reviewed Insufficiently evaluated not reviewed unknown Array rs3214000 1 9530 0.000104931 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - NCAPG2 Tyr389His Y389H not reviewed Insufficiently evaluated not reviewed unknown Array 41 9614 0.00426461 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - NCAPG2 Glu84Lys E84K not reviewed Insufficiently evaluated not reviewed unknown Array 65 9642 0.00674134 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 1 N - - NCAPH Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NCAPH Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -1 - 0 N - - NCAPH Val539Ala V539A not reviewed Insufficiently evaluated not reviewed unknown Array rs2305935 3407 10758 0.316695 30 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NCBP1 Ser338Asn S338N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NCBP1 Arg630His R630H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCCRP1 Asn115His N115H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - NCF1 Gly99Ser G99S not reviewed Insufficiently evaluated not reviewed unknown Array rs10614 5024 10218 0.491681 3 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - NCF2 Val297Ala V297A not reviewed Insufficiently evaluated not reviewed unknown Array rs35937854 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 2 - 1 - - NCF2 Lys181Arg K181R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274064 4660 10758 0.433166 40 0 58 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 4 - - NCF4 Leu272Pro L272P not reviewed Insufficiently evaluated not reviewed unknown Array rs2075939 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCK1 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 1 - 4 - - NCK1 Gly258Arg G258R not reviewed Insufficiently evaluated not reviewed unknown Array rs72978714 244 10758 0.0226808 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCK2 Thr351Ser T351S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NCKAP1 Leu1007Phe L1007F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCKAP1 Leu1013Phe L1013F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCKAP1L Asp66His D66H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCKAP1L Ser402Leu S402L not reviewed Insufficiently evaluated not reviewed unknown Array rs2270581 835 10758 0.0776167 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NCKIPSD Lys598Arg K598R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NCKIPSD Lys605Arg K605R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NCL His700Gln H700Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - NCL Asp255Glu D255E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NCL Glu254Asp E254D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NCLN Glu214Asp E214D not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - -2 - 2 - 2 - - NCLN Lys551Arg K551R not reviewed Insufficiently evaluated not reviewed unknown Array rs2288949 837 10756 0.077817 15 0 21 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NCOA2 Glu1038Lys E1038K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - NCOA2 Pro827Ser P827S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9936 0.000100644 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - NCOA3 Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array rs6094752 579 10758 0.0538204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.269 - - 8 Y 0 N - - NCOA3 Met1243Leu M1243L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NCOA3 Met1247Leu M1247L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.879 - - -3 - 2 N - - NCOA3 Met1243Lys M1243K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCOA3 Met1247Lys M1247K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 4 Y 1 N - - NCOA4 Phe8Val F8V not reviewed Insufficiently evaluated not reviewed unknown Array rs10761581 1366 3234 0.422387 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NCOA4 Thr229Ile T229I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCOA4 Thr245Ile T245I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCOA6 Asn955Ser N955S not reviewed Insufficiently evaluated not reviewed unknown Array rs17092079 748 10758 0.0695297 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 0 N - - NCOA7 Ser388Ala S388A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NCOA7 Ser399Ala S399A not reviewed Insufficiently evaluated not reviewed unknown Array rs6919947 5123 10758 0.476204 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NCOA7 Asn564His N564H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOA7 Asn575His N575H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOA7 Asp931Glu D931E not reviewed Insufficiently evaluated not reviewed unknown Array rs1567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NCOA7 Asp942Glu D942E not reviewed Insufficiently evaluated not reviewed unknown Array rs1567 1856 10758 0.172523 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NCOR1 Gly838Ala G838A not reviewed Insufficiently evaluated not reviewed unknown Array rs61320754 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - NCOR1 Ala816Thr A816T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOR1 Glu191Lys E191K not reviewed Insufficiently evaluated not reviewed unknown Array 43 10754 0.00399851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NCOR1 Arg190Stop R190X not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NCOR1 Gly150Arg G150R not reviewed Insufficiently evaluated not reviewed unknown Array 2003 10758 0.186187 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - NCOR1 Tyr20Ser Y20S not reviewed Insufficiently evaluated not reviewed unknown Array 1144 10758 0.106339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - NCOR1 Gly5Val G5V not reviewed Insufficiently evaluated not reviewed unknown Array 1993 10758 0.185257 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 8 Y 1 N - - NCOR2 Ala2434Thr A2434T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOR2 Ala2496Thr A2496T not reviewed Insufficiently evaluated not reviewed unknown Array 37 8394 0.00440791 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOR2 Ser2295Gly S2295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - NCOR2 Ser2311Gly S2311G not reviewed Insufficiently evaluated not reviewed unknown Array 55 9970 0.00551655 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - NCOR2 Ala1690Thr A1690T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOR2 Ala1706Thr A1706T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229840 1535 10672 0.143834 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NCOR2 Leu1246Phe L1246F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOR2 Leu1262Phe L1262F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCR1 Lys82Gln K82Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2278428 729 10758 0.0677635 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.211 - - -2 - 0 N - - NCR1 Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array rs73619955 8 10758 0.000743632 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NCR1 Met152Val M152V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - 0 - 1 N - - NCR2 Met75Val M75V not reviewed Insufficiently evaluated not reviewed unknown Array rs9471577 1295 10758 0.120376 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NCR2 Ser139Pro S139P not reviewed Insufficiently evaluated not reviewed unknown Array rs2236369 5093 10758 0.473415 40 0 53 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 0 N - - NCR2 Gly161Arg G161R not reviewed Insufficiently evaluated not reviewed unknown Array rs34456049 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 1 - 1 - - NCR2 Ile218Lys I218K not reviewed Insufficiently evaluated not reviewed unknown Array rs2273961 679 10758 0.0631158 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.143 - - 6 Y 0 N - - NCR2 Met223Val M223V not reviewed Insufficiently evaluated not reviewed unknown Array rs2273962 7515 10758 0.69855 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NCR3 Leu140Phe L140F not reviewed Insufficiently evaluated not reviewed unknown Array 62 7522 0.00824249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 1 - 1 - - NCR3 Ala103Thr A103T not reviewed Insufficiently evaluated not reviewed unknown Array rs11575840 117 7524 0.0155502 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - NCRNA00153 His139Gln H139Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NCRNA00153 Met236Thr M236T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCRNA00168 Glu108Gly E108G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NDC80 Glu348Asp E348D not reviewed Insufficiently evaluated not reviewed unknown Array rs12456560 1062 10758 0.0987172 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.505 - - -2 - 0 N - - NDC80 Ala605Pro A605P not reviewed Insufficiently evaluated not reviewed unknown Array rs1983346 2193 10724 0.204495 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NDFIP2 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array rs55887763 534 10758 0.0496375 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NDOR1 Arg30Gly R30G not reviewed Insufficiently evaluated not reviewed unknown Array rs113809617 1116 10436 0.106938 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 1 N - - NDOR1 Arg316Cys R316C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NDOR1 Arg350Cys R350C not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 8 Y 1 N - - NDOR1 Val488Ile V488I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NDOR1 Val515Ile V515I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NDOR1 Val522Ile V522I not reviewed Insufficiently evaluated not reviewed unknown Array rs62587579 424 10758 0.0394125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - NDOR1 Val531Ile V531I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NDRG1 Met67Val M67V not reviewed Insufficiently evaluated not reviewed unknown Array rs2233319 105 10758 0.00976018 3 0 3 0 0 1 Y - - - - - - - - - - Y - - - 0.837 Y Y 0 - 4 - 1 - - NDRG2 Pro180Leu P180L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NDRG2 Pro194Leu P194L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.787 - - 7 Y 1 N - - NDRG2 Thr43Ile T43I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NDRG2 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 3 - 0 N - - NDRG3 Leu137Phe L137F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDRG3 Leu149Phe L149F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.944 - - 0 - 2 N - - NDST2 Asp812Gly D812G not reviewed Insufficiently evaluated not reviewed unknown Array rs73274599 75 10758 0.00697156 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NDST2 Pro562Ser P562S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - NDST4 Glu392Lys E392K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - NDST4 Arg12Gln R12Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35181627 137 10756 0.0127371 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - NDUFA10 Glu238Lys E238K not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - NDUFA10 Ala2Gly A2G not reviewed Insufficiently evaluated not reviewed unknown Array 620 7232 0.0857301 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 1 N - - NDUFA4L2 Ser5Arg S5R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NDUFA6 Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array rs1801311 4181 10758 0.388641 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NDUFA7 Pro66Ala P66A not reviewed Insufficiently evaluated not reviewed unknown Array rs2288415 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.809 - - 2 - 2 - 10 - - NDUFAB1 Asn101Asp N101D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NDUFAF1 Ala314Gly A314G not reviewed Insufficiently evaluated not reviewed unknown Array rs12900702 1503 10758 0.13971 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 1 N - - NDUFAF1 Ile186Met I186M not reviewed Insufficiently evaluated not reviewed unknown Array rs34979001 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - NDUFAF1 Glu176Lys E176K not reviewed Insufficiently evaluated not reviewed unknown Array rs35227875 344 10758 0.0319762 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 2 - 2 - - NDUFAF1 Arg31Leu R31L not reviewed Insufficiently evaluated not reviewed unknown Array rs3204853 2006 10756 0.186501 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - NDUFAF1 Arg9His R9H not reviewed Insufficiently evaluated not reviewed unknown Array rs1899 2406 10748 0.223856 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.153 - - 1 - 0 N - - NDUFB8 Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - NDUFB9 Pro146Ser P146S not reviewed Insufficiently evaluated not reviewed unknown Array rs10195 957 10758 0.0889571 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NDUFC1 Glu68Gln E68Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72939460 5 10726 0.000466157 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.788 - - -2 - 1 N - - NDUFC1 Pro23Ser P23S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - NDUFC2 Leu46Val L46V not reviewed Insufficiently evaluated not reviewed unknown Array rs534418 1734 10598 0.163616 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NDUFS1 Asp194Asn D194N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.387 Y - -1 - 2 N - - NDUFS2 Pro20Thr P20T not reviewed Insufficiently evaluated not reviewed unknown Array rs11538340 784 10752 0.0729167 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - NDUFS2 Pro39Ala P39A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - NDUFS2 Asp40Asn D40N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.478 - - -1 - 1 N - - NDUFS6 Thr107Pro T107P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - NDUFS6 Thr107Lys T107K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - NDUFS7 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array rs1142530 5784 10750 0.538047 24 0 30 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 7 Y 2 - 3 - - NDUFV1 Glu445Lys E445K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 0 - 1 N - - NDUFV2 Val29Ala V29A not reviewed Insufficiently evaluated not reviewed unknown Array rs906807 8592 10752 0.799107 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NDUFV2 Gly73Ser G73S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - NDUFV2 Val134Ala V134A not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.081 - - 2 - 0 N - - NDUFV3 Pro4Arg P4R not reviewed Insufficiently evaluated not reviewed unknown Array 5 7108 0.000703432 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NDUFV3 Ala29Ser A29S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NDUFV3 Arg200Stop R200X not reviewed Insufficiently evaluated not reviewed unknown Array rs4148974 435 10756 0.0404425 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NDUFV3 Asp415Asn D415N not reviewed Insufficiently evaluated not reviewed unknown Array rs10595 6880 10758 0.639524 43 0 65 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NEB Ile6534Val I6534V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061305 4322 10236 0.422235 35 0 45 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - NEB Ala6277Pro A6277P not reviewed Insufficiently evaluated not reviewed unknown Array rs7575451 6060 9610 0.630593 51 0 75 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - NEB Ser5302Cys S5302C not reviewed Insufficiently evaluated not reviewed unknown Array 91 9674 0.00940666 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NEB Asp5018Val D5018V not reviewed Insufficiently evaluated not reviewed unknown Array rs2288200 381 9784 0.0389411 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NEB Leu5008Pro L5008P not reviewed Insufficiently evaluated not reviewed unknown Array 5 9728 0.00051398 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - NEB Arg4389Thr R4389T not reviewed Insufficiently evaluated not reviewed unknown Array rs2288210 6203 9578 0.64763 50 0 76 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - NEB Lys4203Arg K4203R not reviewed Insufficiently evaluated not reviewed unknown Array rs73967567 43 10038 0.00428372 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - NEB Ala4156Val A4156V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NEB Ser3875Thr S3875T not reviewed Insufficiently evaluated not reviewed unknown Array rs35227368 315 9780 0.0322086 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - NEB Trp3348Cys W3348C not reviewed Insufficiently evaluated not reviewed unknown Array rs10172023 2750 10196 0.269714 26 0 32 0 0 - Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - NEB Ser2912Pro S2912P not reviewed Insufficiently evaluated not reviewed unknown Array rs6713162 2894 9708 0.298105 34 0 51 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - NEB Arg2773Gln R2773Q not reviewed Insufficiently evaluated not reviewed unknown Array 226 9688 0.0233278 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NEB Lys2613Asn K2613N not reviewed Insufficiently evaluated not reviewed unknown Array rs13013209 3604 10278 0.350652 18 0 23 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - NEB His1991Tyr H1991Y not reviewed Insufficiently evaluated not reviewed unknown Array 375 9546 0.0392835 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NEB Val1491Met V1491M not reviewed Insufficiently evaluated not reviewed unknown Array rs7426114 6876 10418 0.660012 39 0 61 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - NEB Val1479Ile V1479I not reviewed Insufficiently evaluated not reviewed unknown Array rs34577613 1963 10392 0.188895 24 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - NEB Glu1469Asp E1469D not reviewed Insufficiently evaluated not reviewed unknown Array rs34800215 302 10272 0.0294003 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - NEB Tyr1301His Y1301H not reviewed Insufficiently evaluated not reviewed unknown Array rs6711382 8159 9952 0.819835 49 0 85 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 1 - - NEB Lys1027Asn K1027N not reviewed Insufficiently evaluated not reviewed unknown Array rs6735208 6918 9870 0.700912 46 0 70 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - NEBL Thr728Ala T728A not reviewed Insufficiently evaluated not reviewed unknown Array rs71535732 15 10758 0.00139431 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - NEBL Val686Ala V686A not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.513 - - 2 - 1 N - - NEBL Asn654Lys N654K not reviewed Insufficiently evaluated not reviewed unknown Array rs4748728 879 10758 0.0817066 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 0 N - - NEBL Val538Leu V538L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 2 - 1 - - NEBL Ala219Asp A219D not reviewed Insufficiently evaluated not reviewed unknown Array rs2296610 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 3 - 5 - - NEBL Gln187His Q187H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 3 - 2 - - NEBL Lys60Asn K60N not reviewed Insufficiently evaluated not reviewed unknown Array rs41277374 57 10750 0.00530232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - NECAB2 Pro219Leu P219L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 7 Y 2 N - - NECAB2 Thr235Ser T235S not reviewed Insufficiently evaluated not reviewed unknown Array rs2292324 2298 10758 0.213608 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NECAB2 Leu353Val L353V not reviewed Insufficiently evaluated not reviewed unknown Array rs2271298 3196 10758 0.297081 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NECAB3 Pro254Leu P254L not reviewed Insufficiently evaluated not reviewed unknown Array rs17124890 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 3 - - NECAB3 His250Gln H250Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73259860 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NECAP2 Leu11Val L11V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NECAP2 Leu37Val L37V not reviewed Insufficiently evaluated not reviewed unknown Array 153 10754 0.0142273 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - NECAP2 Asp12Gly D12G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NECAP2 Asp38Gly D38G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - NEDD4 Thr380Ile T380I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - NEDD4 Thr727Ile T727I not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - NEDD4 Asn279Ser N279S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303579 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEDD4 Asn626Ser N626S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303579 7928 10758 0.73694 51 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NEDD4 Arg260Gln R260Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2303580 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEDD4 Arg607Gln R607Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2303580 7928 10758 0.73694 51 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NEDD4 Gly451Ala G451A not reviewed Insufficiently evaluated not reviewed unknown Array rs60811367 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - NEDD4 Asn407His N407H not reviewed Insufficiently evaluated not reviewed unknown Array rs62043855 1404 10758 0.130508 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NEDD4 His308Tyr H308Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73416291 285 10756 0.0264968 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NEDD4 Gly166Ser G166S not reviewed Insufficiently evaluated not reviewed unknown Array rs12593255 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEDD4 Met33Val M33V not reviewed Insufficiently evaluated not reviewed unknown Array rs1912403 687 10756 0.0638713 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 7 - - NEDD4L Ala2Glu A2E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - NEDD4L Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEDD9 Tyr164Stop Y164X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NEDD9 Pro136Gln P136Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34265420 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - NEFH Glu463Lys E463K not reviewed Insufficiently evaluated not reviewed unknown Array rs59371099 750 10758 0.0697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NEFH Pro575Ser P575S not reviewed Insufficiently evaluated not reviewed unknown Array rs6006164 98 10758 0.0091095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEFH Pro595Ser P595S not reviewed Insufficiently evaluated not reviewed unknown Array rs6006165 97 10758 0.00901654 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEFH Pro615Leu P615L not reviewed Insufficiently evaluated not reviewed unknown Array rs5763269 2138 10758 0.198736 16 0 16 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - NEFH Glu805Ala E805A not reviewed Insufficiently evaluated not reviewed unknown Array rs165602 1528 10756 0.14206 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NEFM Gly336Ser G336S not reviewed Insufficiently evaluated not reviewed dominant Array 5 10750 0.000465116 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - This variant was found in one autosomal dominant early-onset Parkinson disease patient with three asymptomatic siblings harboring the variant; penetrance is therefore 25% at age 44 NEFM Pro439Thr P439T not reviewed Insufficiently evaluated not reviewed unknown Array rs196864 9450 10758 0.878416 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NEFM Pro63Thr P63T not reviewed Insufficiently evaluated not reviewed unknown Array rs196864 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NEFM Val453Leu V453L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEFM Val77Leu V77L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEFM Pro349Gln P349Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - NEFM Pro725Gln P725Q pathogenic Insufficiently evaluated pathogenic other Array rs196863 65 10690 0.00608045 2 0 2 1 1 2 Y - - 0 Y - - 4 Y 4 Y - - - - - - - 4 Y 2 - 5 - - This variant was implicated as a susceptibility factor for Parkinson's Disease, but asymptomatic individuals point to it having a very low OR. NEFM Ala401Glu A401E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEFM Ala777Glu A777E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEIL1 Ala164Ser A164S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.58 - - -1 - 1 N - - NEIL1 Asp252Asn D252N not reviewed Insufficiently evaluated not reviewed unknown Array rs5745926 62 10758 0.00576315 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 1 - 10 - - NEIL2 Arg103Gln R103Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8191613 274 10758 0.0254694 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEIL2 Arg42Gln R42Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEIL2 Arg141Leu R141L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEIL2 Arg196Leu R196L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEIL2 Arg257Leu R257L not reviewed Insufficiently evaluated not reviewed unknown Array rs8191664 104 10758 0.00966722 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NEIL3 Arg38Cys R38C not reviewed Insufficiently evaluated not reviewed unknown Array rs34007209 1303 10722 0.121526 9 0 11 1 1 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 0 N - - This variant was seen as a compound heterozygote (with R15) in three patients with colorectal adenomas. NEIL3 His286Arg H286R not reviewed Insufficiently evaluated not reviewed unknown Array rs34193982 1174 10758 0.109128 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.061 - - 1 - 0 N - - NEIL3 Ile346Val I346V not reviewed Insufficiently evaluated not reviewed unknown Array rs17064676 304 10758 0.028258 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NEIL3 Pro443Leu P443L not reviewed Insufficiently evaluated not reviewed unknown Array rs13112358 7937 10758 0.737777 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NEIL3 Gln471His Q471H not reviewed Insufficiently evaluated not reviewed unknown Array rs13112390 8270 10758 0.76873 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NEIL3 Gly520Arg G520R not reviewed Insufficiently evaluated not reviewed unknown Array rs1876268 10212 10758 0.949247 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NEK1 Glu724Gly E724G not reviewed Insufficiently evaluated not reviewed unknown Array rs34099167 962 9468 0.101605 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - NEK1 Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array rs34540355 426 9646 0.0441634 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 1 - 3 - - NEK10 Asn659Ser N659S not reviewed Insufficiently evaluated not reviewed unknown Array rs55833401 352 10758 0.0327198 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - NEK10 Leu513Ser L513S not reviewed Insufficiently evaluated not reviewed unknown Array rs10510592 1883 7820 0.240793 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NEK11 Glu451Lys E451K not reviewed Insufficiently evaluated not reviewed unknown Array rs35409692 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - NEK11 Glu488Val E488V not reviewed Insufficiently evaluated not reviewed unknown Array rs3738000 5957 10758 0.553727 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NEK11 Val562Ala V562A not reviewed Insufficiently evaluated not reviewed unknown Array rs16836266 1439 10758 0.133761 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NEK2 Asn354Ser N354S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230489 1536 10758 0.142777 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - NEK3 Arg344Gln R344Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 9676 0.00475403 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - NEK3 Arg361Gln R361Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK4 Arg830Cys R830C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NEK4 Phe567Leu F567L not reviewed Insufficiently evaluated not reviewed unknown Array rs34986855 284 10758 0.026399 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK4 Thr357Ile T357I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230537 165 10758 0.0153374 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - NEK4 Pro225Ala P225A not reviewed Insufficiently evaluated not reviewed unknown Array rs1029871 3381 10758 0.314278 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 1 N - - NEK5 Asp550Tyr D550Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55776590 204 10754 0.0189697 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.627 - - 7 Y 1 N - - NEK5 Pro334Gln P334Q not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 4 Y 2 N - - NEK5 Lys255Gln K255Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34756139 930 10758 0.0864473 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.78 - - -2 - 0 N - - NEK5 His233Arg H233R not reviewed Insufficiently evaluated not reviewed unknown Array rs56369842 169 10758 0.0157092 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - NEK8 Val303Met V303M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - NEK9 Pro828Thr P828T not reviewed Insufficiently evaluated not reviewed unknown Array rs36014869 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 4 Y 2 N - - NEK9 Gly755Ser G755S not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - NEK9 Pro751Leu P751L not reviewed Insufficiently evaluated not reviewed unknown Array 150 10742 0.0139639 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 7 Y 1 N - - NEK9 Arg429His R429H not reviewed Insufficiently evaluated not reviewed unknown Array rs10146482 4620 10758 0.429448 36 0 44 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NEK9 Gly43Ala G43A not reviewed Insufficiently evaluated not reviewed unknown Array 95 8916 0.010655 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NELL1 Arg82Gln R82Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8176785 6470 10758 0.601413 38 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NELL1 Val287Ile V287I not reviewed Insufficiently evaluated not reviewed unknown Array rs11820003 286 10758 0.0265849 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - NELL1 Pro311Leu P311L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - 7 Y 0 N - - NELL1 Cys327Gly C327G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NELL1 Arg354Trp R354W not reviewed Insufficiently evaluated not reviewed unknown Array rs8176786 396 10758 0.0368098 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 10 - - NELL1 Glu382Asp E382D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - NELL1 Arg468His R468H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - NELL2 Asn346Asp N346D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - NELL2 Asn347Asp N347D not reviewed Insufficiently evaluated not reviewed unknown Array rs17574839 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 5 - - NELL2 Asn370Asp N370D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - NELL2 Asn397Asp N397D not reviewed Insufficiently evaluated not reviewed unknown Array 540 10754 0.0502139 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 5 - - NELL2 Arg256Gln R256Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NELL2 Arg257Gln R257Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - NELL2 Arg280Gln R280Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NELL2 Arg307Gln R307Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NELL2 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - NELL2 Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - NELL2 Val5Ile V5I not reviewed Insufficiently evaluated not reviewed unknown Array rs2658973 3 126 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 6 - - NENF Val100Ile V100I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.344 - - -4 - 1 N - - NEO1 Arg1130Cys R1130C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NES Gly1479Ser G1479S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 2 - 0 N - - NES Ser1466Gly S1466G not reviewed Insufficiently evaluated not reviewed unknown Array rs74118730 138 10758 0.0128277 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.312 - - 2 - 1 N - - NES Gly1407Arg G1407R not reviewed Insufficiently evaluated not reviewed unknown Array rs74118731 111 10748 0.0103275 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 2 N - - NES Pro1275Leu P1275L not reviewed Insufficiently evaluated not reviewed unknown Array rs3748570 7079 10758 0.658022 50 0 73 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NES Arg1133Ser R1133S not reviewed Insufficiently evaluated not reviewed unknown Array rs17393797 169 10758 0.0157092 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.914 - - 3 - 2 N - - NES Pro1101Leu P1101L not reviewed Insufficiently evaluated not reviewed unknown Array rs2886443 5918 10688 0.553705 46 0 62 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 1 N - - NES Ser1016Asn S1016N not reviewed Insufficiently evaluated not reviewed unknown Array rs2365718 835 10758 0.0776167 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - NES Val815Ile V815I not reviewed Insufficiently evaluated not reviewed unknown Array rs951781 2871 10758 0.266871 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.055 - - -4 - 0 N - - NES Leu791Ile L791I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NES Asp621Val D621V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - NES Val130Ala V130A not reviewed Insufficiently evaluated not reviewed unknown Array rs4278369 7676 7690 0.998179 11 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NET1 Ala475Val A475V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - NET1 Ala529Val A529V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 3 0 4 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - NETO1 Val511Ile V511I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NETO1 Val512Ile V512I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - -4 - 1 N - - NETO1 Ser480Asn S480N not reviewed Insufficiently evaluated not reviewed unknown Array rs922999 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NETO1 Ser481Asn S481N not reviewed Insufficiently evaluated not reviewed unknown Array rs922999 10651 10758 0.990054 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NETO1 Val476Ile V476I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - NETO1 Val477Ile V477I not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.74 - - -4 - 2 - 1 - - NEU1 Gly88Ala G88A not reviewed Insufficiently evaluated not reviewed unknown Array rs34712643 225 7520 0.0299202 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.962 Y - 1 - 3 N - - NEU2 Ser11Arg S11R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233384 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEU2 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2233385 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 10 - - NEU2 His168Asn H168N not reviewed Insufficiently evaluated not reviewed unknown Array rs2233391 29 126 0.230159 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.877 - - 0 - 1 N - - NEU3 Arg48Gln R48Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7115499 671 10098 0.0664488 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - NEU4 Gly313Arg G313R not reviewed Insufficiently evaluated not reviewed unknown Array rs11545301 2941 10348 0.28421 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NEURL Arg98Cys R98C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NEURL Gly270Ser G270S not reviewed Insufficiently evaluated not reviewed unknown Array rs11191737 787 4640 0.169612 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NEURL Arg349Gly R349G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - NEURL2 Glu211Lys E211K not reviewed Insufficiently evaluated not reviewed unknown Array rs35342327 329 10740 0.0306331 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 3 - 2 - - NEURL4 Arg1404His R1404H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEURL4 Arg1406His R1406H not reviewed Insufficiently evaluated not reviewed unknown Array rs34688574 387 10044 0.0385305 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.912 - - 1 - 2 N - - NEURL4 Arg1370Gln R1370Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEURL4 Arg1372Gln R1372Q not reviewed Insufficiently evaluated not reviewed unknown Array 186 10402 0.0178812 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.115 - - 0 - 0 N - - NEURL4 Gln1017His Q1017H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NEURL4 Gln1019His Q1019H not reviewed Insufficiently evaluated not reviewed unknown Array rs3809813 1011 10384 0.0973613 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.6 - - -1 - 0 N - - NEURL4 Ala736Gly A736G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.743 - - 1 - 1 N - - NEURL4 Val554Leu V554L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 0 - 1 N - - NEURL4 Pro214His P214H not reviewed Insufficiently evaluated not reviewed unknown Array rs11655578 1537 9882 0.155535 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NEUROD1 Pro197His P197H benign Low clinical importance, Uncertain benign undefined Array rs8192556 216 10758 0.0200781 3 0 3 1 1 ! Y - - 0 Y - - - - - - Y - - - 1.0 Y - 5 Y 4 - 3 0 0 Tentatively presumed benign. Other disruptive mutations in this gene have been reported to cause type 2 diabetes in a dominant manner, but this was found in a PGP participant who does not report having the disease. NEUROD1 Thr45Ala T45A not reviewed Insufficiently evaluated not reviewed unknown Array rs1801262 7231 10758 0.672151 52 0 82 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 3 - - NEUROD2 Cys193Tyr C193Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NEUROD2 Arg4Cys R4C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - NEUROD4 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEUROD4 Lys68Thr K68T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 7 - - NEUROG3 Phe199Ser F199S not reviewed Insufficiently evaluated not reviewed unknown Array rs4536103 5468 9352 0.584688 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NEXN Gly245Arg G245R not reviewed Insufficiently evaluated not reviewed unknown Array rs1166698 1491 9482 0.157245 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - NEXN Met317Leu M317L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NF1 Glu1089Lys E1089K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 5 - 1 - - NFAM1 Asn187Lys N187K not reviewed Insufficiently evaluated not reviewed unknown Array rs17003048 380 10758 0.0353226 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFASC Thr153Met T153M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - NFASC Thr159Met T159M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.584 - - 2 - 2 - 6 - - NFASC Asn379His N379H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFASC Asn385His N385H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - NFASC Asn396His N396H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFASC Arg528Lys R528K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NFASC Arg534Lys R534K not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - -3 - 0 N - - NFASC Arg545Lys R545K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NFASC Ile560Val I560V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NFASC Ile566Val I566V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - -4 - 2 N - - NFASC Ile577Val I577V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - NFASC Ile971Met I971M not reviewed Insufficiently evaluated not reviewed unknown Array rs2802808 2035 7806 0.260697 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NFASC Ala987Thr A987T not reviewed Insufficiently evaluated not reviewed unknown Array 31 7614 0.00407145 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFAT5 Leu1415Val L1415V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFAT5 Leu1491Val L1491V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - NFAT5 Leu1508Val L1508V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFAT5 Leu1509Val L1509V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFATC1 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10748 0.00111649 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFATC1 Val210Met V210M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - NFATC1 Asp284Asn D284N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10742 0.000558555 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NFATC1 Asp297Asn D297N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - NFATC1 Cys279Gly C279G not reviewed Insufficiently evaluated not reviewed unknown Array rs754093 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NFATC1 Cys738Gly C738G not reviewed Insufficiently evaluated not reviewed unknown Array rs754093 3964 10752 0.368676 22 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NFATC1 Cys751Gly C751G not reviewed Insufficiently evaluated not reviewed unknown Array rs754093 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - NFATC2IP Thr190Pro T190P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - NFATC3 Pro105Thr P105T not reviewed Insufficiently evaluated not reviewed unknown Array rs73612692 66 10758 0.00613497 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.688 - - 4 Y 1 N - - NFATC3 Pro136Leu P136L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230094 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.813 - - 7 Y 2 - 3 - - NFATC3 Arg138Trp R138W not reviewed Insufficiently evaluated not reviewed unknown Array rs62636652 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - NFATC4 Gly160Ala G160A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229309 50 126 0.396825 25 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NFATC4 Gly223Ala G223A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229309 4631 10582 0.43763 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NFATC4 Asp714Gly D714G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFATC4 Asp777Gly D777G not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFATC4 Ser800Pro S800P not reviewed Insufficiently evaluated not reviewed unknown Array rs7149586 62 128 0.484375 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NFATC4 Ser863Pro S863P not reviewed Insufficiently evaluated not reviewed unknown Array rs7149586 5728 10758 0.532441 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NFE2L2 Lys196Arg K196R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NFE2L2 Lys203Arg K203R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NFE2L2 Lys219Arg K219R not reviewed Insufficiently evaluated not reviewed unknown Array rs60132461 10 9660 0.0010352 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.502 - - -3 - 1 N - - NFE2L3 Glu230Gly E230G not reviewed Insufficiently evaluated not reviewed unknown Array rs73683257 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NFE2L3 Lys617Thr K617T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - NFIC Pro157Leu P157L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10726 0.000559388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NFIC Pro166Leu P166L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NFIC Thr256Ser T256S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NFIC Thr265Ser T265S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - NFIC Ala408Ser A408S not reviewed Insufficiently evaluated not reviewed unknown Array rs10412720 529 10758 0.0491727 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NFIC Ala417Ser A417S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NFKB1 Met507Val M507V not reviewed Insufficiently evaluated not reviewed unknown Array rs4648072 197 10758 0.018312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFKB2 Glu14Lys E14K not reviewed Insufficiently evaluated not reviewed unknown Array rs45581936 36 9776 0.00368249 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 1 - - NFKBIB Arg339Trp R339W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.65 - - 7 Y 2 - 3 - - NFKBID Val29Ala V29A not reviewed Insufficiently evaluated not reviewed unknown Array rs8113704 1761 9896 0.177951 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NFKBIE Val194Ala V194A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233434 424 10038 0.0422395 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 7 - - NFKBIE Pro175Leu P175L not reviewed Insufficiently evaluated not reviewed unknown Array rs2233433 273 10208 0.0267437 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - NFKBIE His95Gln H95Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28362857 128 7622 0.0167935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - NFKBIL1 Arg186Cys R186C not reviewed Insufficiently evaluated not reviewed unknown Array rs3130062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NFKBIL1 Arg201Cys R201C not reviewed Insufficiently evaluated not reviewed unknown Array rs3130062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NFKBIL1 Arg209Cys R209C not reviewed Insufficiently evaluated not reviewed unknown Array rs3130062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NFKBIL1 Arg224Cys R224C not reviewed Insufficiently evaluated not reviewed unknown Array rs3130062 7152 7518 0.951317 47 0 90 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NFKBIL1 Arg206Gln R206Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFKBIL1 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFKBIL1 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFKBIL1 Arg244Gln R244Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - 0 - 2 N - - NFKBIL2 Pro1305Leu P1305L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NFKBIL2 Ser1172Gly S1172G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFKBIL2 Ala714Val A714V not reviewed Insufficiently evaluated not reviewed unknown Array rs7830832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFKBIL2 Gly493Ser G493S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229315 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFRKB Arg145Gln R145Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFRKB Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFU1 Lys197Asn K197N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFU1 Lys221Asn K221N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFU1 Lys80Asn K80N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFU1 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs4453725 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFU1 Met25Lys M25K not reviewed Insufficiently evaluated not reviewed unknown Array rs4453725 4102 10758 0.381298 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NFX1 Thr816Ala T816A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFX1 Pro859Leu P859L not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - NFXL1 Arg432Cys R432C not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NFXL1 Pro246Leu P246L not reviewed Insufficiently evaluated not reviewed unknown Array rs12651301 3413 10758 0.317252 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - NGDN Lys308Ile K308I not reviewed Insufficiently evaluated not reviewed unknown Array rs17093050 150 10758 0.0139431 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NGEF Leu146Pro L146P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - NGEF Leu54Pro L54P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NGEF Met111Thr M111T not reviewed Insufficiently evaluated not reviewed unknown Array rs4973588 9349 10758 0.869028 54 0 98 0 0 - - - - - - - - - - - - - - - - 0.276 - - 2 - 0 N - - NGF Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array rs6330 3985 10758 0.370422 34 0 41 0 0 - - - - - - - - - - - - Y - - - 0.123 Y - 2 - 2 - 4 - - NGFR Ser205Leu S205L not reviewed Insufficiently evaluated not reviewed unknown Array rs2072446 425 10758 0.0395055 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - NGRN Leu102Phe L102F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - NGRN Leu174Phe L174F not reviewed Insufficiently evaluated not reviewed unknown Array rs11073922 756 10758 0.0702733 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NHEDC1 Ala473Val A473V not reviewed Insufficiently evaluated not reviewed unknown Array 3644 10454 0.348575 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 1 N - - NHEDC1 Lys440Stop K440X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NHEDC1 Arg305Stop R305X not reviewed Insufficiently evaluated not reviewed unknown Array 610 9386 0.0649904 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - NHEDC1 Gln33His Q33H not reviewed Insufficiently evaluated not reviewed unknown Array rs2715591 10693 10738 0.995809 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NHEDC2 Pro415Ala P415A not reviewed Insufficiently evaluated not reviewed unknown Array rs72943528 150 10758 0.0139431 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 0 N - - NHEDC2 Phe357Cys F357C not reviewed Insufficiently evaluated not reviewed unknown Array rs2276976 1039 10758 0.0965793 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - NHEDC2 Thr92Ala T92A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NHEJ1 Gln256Leu Q256L not reviewed Insufficiently evaluated not reviewed unknown Array rs35270667 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 3 - 2 - - NHEJ1 Ala14Thr A14T not reviewed Insufficiently evaluated not reviewed unknown Array rs34689457 487 10758 0.0452686 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.962 - - 1 - 3 - 2 - - NHLRC1 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array rs10949483 3527 10522 0.335202 27 0 36 0 0 3 Y - - - - - - - - - - Y - - - 0.992 Y Y 7 Y 4 - 1 - - NHLRC2 Val314Ile V314I not reviewed Insufficiently evaluated not reviewed unknown Array rs7913176 2547 10758 0.236754 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.132 - - -4 - 0 N - - NHLRC2 Glu562Lys E562K not reviewed Insufficiently evaluated not reviewed unknown Array rs74157540 397 10754 0.0369165 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NHP2 Val64Met V64M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 0 - 4 N - - NHS Ala230Thr A230T not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.455 - - 1 - 2 - 1 - - NHS Ala53Thr A53T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - NHS Phe1163Leu F1163L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NHS Phe1319Leu F1319L not reviewed Insufficiently evaluated not reviewed unknown Array rs3747295 2731 8761 0.311722 28 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NHSL1 Phe124Val F124V not reviewed Insufficiently evaluated not reviewed unknown Array 46 3234 0.0142239 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NHSL2 Thr535Ile T535I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NIACR1 Met317Ile M317I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIACR2 Ile346Met I346M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIACR2 Ile317Met I317M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIACR2 His253Arg H253R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NIACR2 Phe198Leu F198L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIACR2 Thr173Pro T173P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NID1 Gln1246Arg Q1246R not reviewed Insufficiently evaluated not reviewed unknown Array rs3213190 2527 10758 0.234895 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NID1 Thr1226Ile T1226I not reviewed Insufficiently evaluated not reviewed unknown Array rs6662744 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.058 - - 3 - 1 - 2 - - NID1 Gln807His Q807H not reviewed Insufficiently evaluated not reviewed unknown Array rs3738531 1096 10758 0.101878 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.935 - - -1 - 1 N - - NID1 Arg335His R335H not reviewed Insufficiently evaluated not reviewed unknown Array rs34406281 238 10758 0.0221231 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - NID1 Arg302His R302H not reviewed Insufficiently evaluated not reviewed unknown Array 279 10758 0.0259342 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - NID1 Val246Ile V246I not reviewed Insufficiently evaluated not reviewed unknown Array rs10733133 5317 10758 0.494237 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NID2 Arg866Gln R866Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28507587 254 10758 0.0236103 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 1 - 3 - - NID2 Arg830Gln R830Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7144523 120 10758 0.0111545 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.162 - - 0 - 0 N - - NID2 Gly760Val G760V not reviewed Insufficiently evaluated not reviewed unknown Array rs2273430 10015 10758 0.930935 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NID2 Pro716Leu P716L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - NID2 Ser656Pro S656P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742536 8700 10758 0.808701 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NID2 Glu602Asp E602D not reviewed Insufficiently evaluated not reviewed unknown Array rs61747585 531 10758 0.0493586 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.401 - - -2 - 1 N - - NID2 Pro529Ser P529S not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 3 - 4 - - NID2 Gly453Asp G453D not reviewed Insufficiently evaluated not reviewed unknown Array rs2101919 7154 10758 0.664993 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NID2 Pro354His P354H not reviewed Insufficiently evaluated not reviewed unknown Array rs35657569 721 10758 0.0670199 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.249 - - 5 Y 0 N - - NID2 Ile342Asn I342N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - NID2 Pro22Gln P22Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3920038 7953 10756 0.739401 35 0 58 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NIF3L1 Arg25His R25H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NIF3L1 Leu278Phe L278F not reviewed Insufficiently evaluated not reviewed unknown Array rs7917 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIF3L1 Thr297Ile T297I not reviewed Insufficiently evaluated not reviewed unknown Array rs7917 43 128 0.335938 31 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NIF3L1 Thr324Ile T324I not reviewed Insufficiently evaluated not reviewed unknown Array rs7917 3239 9750 0.332205 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NIN Gln1934Glu Q1934E not reviewed Insufficiently evaluated not reviewed unknown Array rs2295847 880 10756 0.0818148 10 0 15 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - NIN Gln1940Glu Q1940E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NIN Arg1878His R1878H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - NIN Arg1884His R1884H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NIN Thr1871Pro T1871P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - NIN Thr1877Pro T1877P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NIN Ser1837Thr S1837T not reviewed Insufficiently evaluated not reviewed unknown Array 258 10758 0.0239822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - NIN Ser1843Thr S1843T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - NIN Glu1622Asp E1622D not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NIN Glu1628Asp E1628D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NIN Arg1613Cys R1613C not reviewed Insufficiently evaluated not reviewed unknown Array rs61755995 5 10758 0.00046477 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - NIN Arg1619Cys R1619C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NIN Gly1320Glu G1320E not reviewed Insufficiently evaluated not reviewed unknown Array rs2073347 8524 10758 0.792341 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NIN Gly1326Glu G1326E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NIN Gln1125Pro Q1125P not reviewed Insufficiently evaluated not reviewed unknown Array rs12882191 8694 10758 0.808143 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NIN Gln1131Pro Q1131P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NIN Pro1111Ala P1111A not reviewed Insufficiently evaluated not reviewed unknown Array rs2236316 2140 10758 0.198922 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - NIN Pro1117Ala P1117A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NIN His691Arg H691R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 1 - 1 - - NIN His697Arg H697R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - NINJ1 Ala110Asp A110D not reviewed Insufficiently evaluated not reviewed unknown Array rs2275848 8265 10758 0.768265 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NINL Arg1366His R1366H not reviewed Insufficiently evaluated not reviewed unknown Array rs17857107 1073 10758 0.0997397 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - NINL Glu1363Gly E1363G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NINL Asp1077Asn D1077N not reviewed Insufficiently evaluated not reviewed unknown Array rs35666277 491 10758 0.0456405 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - NINL Glu973Lys E973K not reviewed Insufficiently evaluated not reviewed unknown Array rs428801 304 10732 0.0283265 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 3 - - NINL Arg969Gly R969G not reviewed Insufficiently evaluated not reviewed unknown Array rs6115193 1198 10670 0.112277 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NINL Cys790Arg C790R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - NINL Thr618Met T618M not reviewed Insufficiently evaluated not reviewed unknown Array rs35054550 243 10758 0.0225878 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - NINL Thr296Ala T296A not reviewed Insufficiently evaluated not reviewed unknown Array rs379538 304 10758 0.028258 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.172 - - 1 - 1 - 3 - - NINL Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array rs13044759 320 10758 0.0297453 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.084 - - 7 Y 0 N - - NIPAL1 Ile324Val I324V not reviewed Insufficiently evaluated not reviewed unknown Array rs13116684 2262 10758 0.210262 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 1 N - - NIPAL1 Asn381Ser N381S not reviewed Insufficiently evaluated not reviewed unknown Array rs73149642 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIPAL2 Thr165Pro T165P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NIPAL4 Arg213Gly R213G not reviewed Insufficiently evaluated not reviewed unknown Array rs6860507 4578 10206 0.44856 38 0 52 0 0 1 Y - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - NIPBL Asn674Ser N674S not reviewed Insufficiently evaluated not reviewed unknown Array rs3822471 1250 10758 0.116193 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 0 - 3 - 5 - - NIPSNAP3A Arg100Gln R100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2274870 84 126 0.666667 51 0 74 0 0 - - - - - - - - - - - - - - - - 0.735 - - 0 - 0 N - - NIPSNAP3A Thr150Ser T150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - NIPSNAP3B Val75Leu V75L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NIPSNAP3B Ala94Pro A94P not reviewed Insufficiently evaluated not reviewed unknown Array rs10761084 1545 10758 0.143614 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 1 N - - NIPSNAP3B Lys154Glu K154E not reviewed Insufficiently evaluated not reviewed unknown Array rs3739740 173 10758 0.0160811 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - NIPSNAP3B Ala159Gly A159G not reviewed Insufficiently evaluated not reviewed unknown Array rs3739741 1540 10758 0.143149 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.871 - - 1 - 1 N - - NISCH Val299Ile V299I not reviewed Insufficiently evaluated not reviewed unknown Array rs9856575 10599 10758 0.98522 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NISCH Ala1056Val A1056V not reviewed Insufficiently evaluated not reviewed unknown Array rs887515 7348 10734 0.684554 22 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NIT1 Phe4Val F4V not reviewed Insufficiently evaluated not reviewed unknown Array rs41270017 986 10758 0.0916527 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NIT1 Val281Met V281M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - NKAIN3 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array rs4739003 1533 10300 0.148835 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - NKAIN3 Ala164Ser A164S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - NKAIN4 Pro188Leu P188L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NKAIN4 Cys151Gly C151G not reviewed Insufficiently evaluated not reviewed unknown Array rs872808 3328 9246 0.359939 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NKAIN4 Ala131Asp A131D not reviewed Insufficiently evaluated not reviewed unknown Array rs2236194 1314 9174 0.143231 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NKAIN4 Arg110Leu R110L not reviewed Insufficiently evaluated not reviewed unknown Array 56 9436 0.00593472 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NKAIN4 Lys91Gln K91Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1129659 4156 10752 0.386533 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NKAPL Ala84Val A84V not reviewed Insufficiently evaluated not reviewed unknown Array rs73402526 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NKAPL Tyr96Cys Y96C not reviewed Insufficiently evaluated not reviewed unknown Array rs12000 3587 10758 0.333426 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NKAPL Thr152Asn T152N not reviewed Insufficiently evaluated not reviewed unknown Array rs1635 1409 10758 0.130972 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NKAPL His162Tyr H162Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9461446 481 10758 0.0447109 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NKAPL Ile285Thr I285T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - NKAPL Glu398Gly E398G not reviewed Insufficiently evaluated not reviewed unknown Array rs1679709 8837 10758 0.821435 54 0 85 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NKPD1 Arg566Gly R566G not reviewed Insufficiently evaluated not reviewed unknown Array rs28469095 4 102 0.0392157 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NKPD1 Arg575Gly R575G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NKPD1 Gln515Glu Q515E not reviewed Insufficiently evaluated not reviewed unknown Array rs4803799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - NKPD1 Gln524Glu Q524E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NKPD1 His320Gln H320Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12460007 2 80 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 1 - 1 - - NKPD1 His329Gln H329Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - NKPD1 Ser184Asn S184N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 0 - 1 N - - NKPD1 Ser193Asn S193N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NKTR Arg239Stop R239X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NKTR Val271Gly V271G not reviewed Insufficiently evaluated not reviewed unknown Array rs35726114 217 10758 0.020171 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - NKTR Leu861Val L861V not reviewed Insufficiently evaluated not reviewed unknown Array rs33969824 1930 10740 0.179702 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NKTR Ser935Leu S935L not reviewed Insufficiently evaluated not reviewed unknown Array rs35770315 306 10758 0.0284439 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NKX1-2 Ala271Glu A271E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NKX1-2 Leu156Val L156V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NKX2-3 Pro145Thr P145T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10328 0.00290473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.759 - - 4 Y 1 N - - NKX3-2 Asp165His D165H not reviewed Insufficiently evaluated not reviewed unknown Array 8 8746 0.000914703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 3 - 3 - 3 - - NKX6-2 Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array rs2804003 10266 10728 0.956935 29 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NLE1 Val148Gly V148G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NLE1 Val440Gly V440G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - NLE1 Ser142Asn S142N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - NLE1 Ser434Asn S434N not reviewed Insufficiently evaluated not reviewed unknown Array rs2306512 40 10758 0.00371816 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 2 - 3 - - NLE1 Tyr114His Y114H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - NLE1 Tyr406His Y406H not reviewed Insufficiently evaluated not reviewed unknown Array rs2306513 40 10752 0.00372024 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.907 - - -1 - 3 - 3 - - NLE1 Arg169Lys R169K not reviewed Insufficiently evaluated not reviewed unknown Array rs7215209 8289 10758 0.770496 50 0 92 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NLE1 Pro6Ala P6A not reviewed Insufficiently evaluated not reviewed unknown Array rs1471615 8605 8724 0.986359 31 0 62 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NLGN2 Pro86Leu P86L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NLGN2 Ala755Val A755V not reviewed Insufficiently evaluated not reviewed unknown Array 178 9704 0.018343 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NLGN4X Gly657Trp G657W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - NLN Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array rs34339013 280 10758 0.0260271 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLN Lys372Arg K372R not reviewed Insufficiently evaluated not reviewed unknown Array rs6863012 704 10758 0.0654397 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - NLN Pro704Ser P704S not reviewed Insufficiently evaluated not reviewed unknown Array rs6860508 940 10758 0.0873768 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 1 N - - NLRC3 Val567Met V567M not reviewed Insufficiently evaluated not reviewed unknown Array rs8057436 385 10416 0.0369624 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRC3 Pro434Leu P434L not reviewed Insufficiently evaluated not reviewed unknown Array 452 10190 0.0443572 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRC3 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732418 325 9778 0.0332379 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 1 - 1 - - NLRC5 Lys146Asn K146N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - NLRC5 Pro191Leu P191L not reviewed Insufficiently evaluated not reviewed unknown Array 1476 10758 0.1372 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - NLRC5 Pro453Leu P453L not reviewed Insufficiently evaluated not reviewed unknown Array rs9938543 1307 10758 0.121491 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - NLRC5 Cys500Arg C500R not reviewed Insufficiently evaluated not reviewed unknown Array rs28438857 1396 10758 0.129764 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - NLRC5 His857Arg H857R not reviewed Insufficiently evaluated not reviewed unknown Array rs3995818 64 10758 0.00594906 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.602 - - 1 - 1 N - - NLRC5 Asn907Asp N907D not reviewed Insufficiently evaluated not reviewed unknown Array rs71380435 10631 10758 0.988195 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NLRC5 Gln1105Lys Q1105K not reviewed Insufficiently evaluated not reviewed unknown Array rs289723 2342 10758 0.217698 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.116 - - -2 - 0 N - - NLRC5 Asp1257Asn D1257N not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.116 - - -1 - 0 N - - NLRC5 Val1455Ala V1455A not reviewed Insufficiently evaluated not reviewed unknown Array rs7190199 821 10758 0.0763153 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - NLRC5 Gln1466Arg Q1466R not reviewed Insufficiently evaluated not reviewed unknown Array rs7185320 810 10758 0.0752928 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - NLRP1 Arg1292Cys R1292C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NLRP1 Arg1322Cys R1322C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NLRP1 Arg1336Cys R1336C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NLRP1 Arg1366Cys R1366C not reviewed Insufficiently evaluated not reviewed unknown Array rs2137722 512 10042 0.0509859 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.159 - - 8 Y 0 N - - NLRP1 Val1211Leu V1211L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Val1241Leu V1241L not reviewed Insufficiently evaluated not reviewed unknown Array rs11653832 687 10758 0.0638595 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NLRP1 Val1245Leu V1245L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Ser1181Asn S1181N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Ser1211Asn S1211N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NLRP1 Ser1215Asn S1215N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Met1154Val M1154V not reviewed Insufficiently evaluated not reviewed unknown Array rs11651270 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Met1184Val M1184V not reviewed Insufficiently evaluated not reviewed unknown Array rs11651270 5148 10758 0.478528 43 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NLRP1 Met1188Val M1188V not reviewed Insufficiently evaluated not reviewed unknown Array rs11651270 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Met1089Val M1089V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Met1119Val M1119V not reviewed Insufficiently evaluated not reviewed unknown Array rs35596958 665 10758 0.0618145 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NLRP1 Met1123Val M1123V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Val1029Met V1029M not reviewed Insufficiently evaluated not reviewed unknown Array rs2301582 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Val1059Met V1059M not reviewed Insufficiently evaluated not reviewed unknown Array rs2301582 3266 10758 0.303588 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - NLRP1 Val1063Met V1063M not reviewed Insufficiently evaluated not reviewed unknown Array rs2301582 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP1 Thr965Ile T965I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP1 Thr995Ile T995I not reviewed Insufficiently evaluated not reviewed unknown Array rs34733791 659 10758 0.0612567 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 0 N - - NLRP1 Thr878Met T878M not reviewed Insufficiently evaluated not reviewed unknown Array rs11657747 539 10758 0.0501022 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.384 - - 2 - 0 N - - NLRP1 Val803Ile V803I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 0 N - - NLRP1 Thr782Ser T782S not reviewed Insufficiently evaluated not reviewed unknown Array rs52795654 769 10758 0.0714817 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NLRP1 Ile601Phe I601F not reviewed Insufficiently evaluated not reviewed unknown Array rs73973843 302 10758 0.0280721 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.852 - - 2 - 2 N - - NLRP1 Gln533His Q533H not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - NLRP1 Arg404Gln R404Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3744718 14 10758 0.00130136 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - NLRP1 Thr246Ser T246S not reviewed Insufficiently evaluated not reviewed unknown Array rs11651595 518 10758 0.0481502 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP1 Leu155His L155H not reviewed Insufficiently evaluated not reviewed unknown Array rs12150220 3547 10758 0.329708 18 0 21 0 0 3 Y - - - - - - - - - - - Y - - 0.064 - - 6 Y 2 N - - NLRP10 Arg243Trp R243W not reviewed Insufficiently evaluated not reviewed unknown Array rs59039403 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - NLRP11 Arg907Gln R907Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73616926 16 10758 0.00148726 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - NLRP11 Cys792Gly C792G not reviewed Insufficiently evaluated not reviewed unknown Array 307 10758 0.0285369 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NLRP11 Pro438Leu P438L not reviewed Insufficiently evaluated not reviewed unknown Array rs12461110 2722 10758 0.253021 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.669 - - 7 Y 0 N - - NLRP11 Asn233Asp N233D not reviewed Insufficiently evaluated not reviewed unknown Array rs59244027 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.595 - - -1 - 2 - 2 - - NLRP11 Ala188Ser A188S not reviewed Insufficiently evaluated not reviewed unknown Array rs299163 10260 10758 0.953709 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NLRP11 Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 2 N - - NLRP12 Thr143Ser T143S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP12 Thr860Ser T860S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - -2 - 1 N - - NLRP12 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - NLRP12 Arg451His R451H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.291 - - 1 - 1 N - - NLRP12 Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NLRP12 Gly39Val G39V not reviewed Insufficiently evaluated not reviewed unknown Array rs34436714 2877 10758 0.267429 28 0 36 0 0 - - - - - - - - - - - - - - - - 0.468 - - 8 Y 0 N - - NLRP13 Asn930His N930H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745385 3 128 0.0234375 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.289 - - 0 - 1 N - - NLRP13 Asn781Ser N781S not reviewed Insufficiently evaluated not reviewed unknown Array rs17711239 13 128 0.101562 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 0 N - - NLRP13 Val573Ile V573I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 0 N - - NLRP13 Gln247Arg Q247R not reviewed Insufficiently evaluated not reviewed unknown Array rs303997 88 128 0.6875 46 0 69 0 0 - - - - - - - - - - - - - - - - 0.221 - - 0 - 0 N - - NLRP13 Thr230Met T230M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - NLRP13 Gln26Arg Q26R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 0 - 2 N - - NLRP14 Asn48Thr N48T not reviewed Insufficiently evaluated not reviewed unknown Array rs12801277 10362 10758 0.96319 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NLRP14 Arg55Gln R55Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61063081 1837 10758 0.170757 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 1 N - - NLRP14 Lys92Arg K92R not reviewed Insufficiently evaluated not reviewed unknown Array rs16921697 257 10758 0.0238892 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - NLRP14 Lys108Stop K108X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NLRP14 Gly242Asp G242D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - NLRP14 Thr397Ile T397I not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - NLRP14 Glu808Lys E808K not reviewed Insufficiently evaluated not reviewed unknown Array rs10839708 5488 10758 0.510132 48 0 61 0 0 - - - - - - - - - - - - - - - - 0.069 - - 0 - 0 N - - NLRP14 Leu1010Phe L1010F not reviewed Insufficiently evaluated not reviewed unknown Array rs17280682 1845 10758 0.1715 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 1 N - - NLRP2 Thr221Met T221M not reviewed Insufficiently evaluated not reviewed unknown Array rs17699678 808 10758 0.0751069 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - NLRP2 Met227Leu M227L not reviewed Insufficiently evaluated not reviewed unknown Array rs73607913 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - -3 - 2 N - - NLRP2 Arg364Lys R364K not reviewed Insufficiently evaluated not reviewed unknown Array rs41514352 776 10758 0.0721324 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.367 - - -3 - 0 N - - NLRP2 Asp492Asn D492N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10752 0.00167411 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - -1 - 0 N - - NLRP2 Thr529Ala T529A not reviewed Insufficiently evaluated not reviewed unknown Array rs34804158 2174 10758 0.202082 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NLRP2 Ala561Thr A561T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735086 75 10758 0.00697156 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NLRP2 Gly884Arg G884R not reviewed Insufficiently evaluated not reviewed unknown Array rs59779270 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 3 - 2 - - NLRP2 Leu974Val L974V not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 0 - 2 N - - NLRP2 Glu1032Val E1032V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735075 112 10758 0.0104109 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.482 - - 5 Y 1 N - - NLRP2 Ala1052Glu A1052E not reviewed Insufficiently evaluated not reviewed unknown Array rs1043673 4190 10758 0.389478 39 0 47 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - NLRP3 Cys279Trp C279W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - NLRP4 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array rs441827 4201 10758 0.3905 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NLRP4 Glu323Ala E323A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - NLRP4 Pro390Leu P390L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 1 - 4 - - NLRP4 Arg708His R708H not reviewed Insufficiently evaluated not reviewed unknown Array rs12462372 375 10756 0.0348643 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NLRP4 Gln925Leu Q925L not reviewed Insufficiently evaluated not reviewed unknown Array rs302453 2112 10758 0.196319 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - NLRP5 Glu187Asp E187D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP5 Ser900Arg S900R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP5 Met912Thr M912T not reviewed Insufficiently evaluated not reviewed unknown Array rs16986899 2511 10402 0.241396 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NLRP5 Ala1097Thr A1097T not reviewed Insufficiently evaluated not reviewed unknown Array rs3103057 9666 10110 0.956083 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NLRP5 Ser1108Cys S1108C not reviewed Insufficiently evaluated not reviewed unknown Array rs12462795 1233 10156 0.121406 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NLRP5 Val1181Ile V1181I not reviewed Insufficiently evaluated not reviewed unknown Array rs10409555 3088 9958 0.310102 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NLRP5 Arg1195Gln R1195Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36118060 1196 9850 0.121421 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NLRP6 Met163Leu M163L not reviewed Insufficiently evaluated not reviewed unknown Array rs6421985 43 62 0.693548 17 0 30 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NLRP6 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - NLRP6 Pro244Ala P244A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - NLRP6 Tyr361Phe Y361F not reviewed Insufficiently evaluated not reviewed unknown Array rs7482965 83 116 0.715517 43 0 43 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NLRP6 Pro519Thr P519T not reviewed Insufficiently evaluated not reviewed unknown Array 3 116 0.0258621 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - NLRP6 Pro587Leu P587L not reviewed Insufficiently evaluated not reviewed unknown Array rs57520048 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.743 - - 7 Y 1 N - - NLRP6 Val792Ala V792A not reviewed Insufficiently evaluated not reviewed unknown Array rs74044411 6 118 0.0508475 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.194 - - 2 - 0 N - - NLRP7 Val671Ile V671I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - NLRP7 Val699Ile V699I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 2 - - NLRP7 Lys511Arg K511R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743949 366 10758 0.0340212 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.02 Y - -3 - 2 - 2 - - NLRP7 Gly487Glu G487E not reviewed Insufficiently evaluated not reviewed unknown Array rs775881 1575 10758 0.146403 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 - 3 - - NLRP7 Ala481Thr A481T not reviewed Insufficiently evaluated not reviewed unknown Array rs61747414 1263 10758 0.117401 9 0 9 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 2 - - NLRP7 Trp367Stop W367X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - NLRP7 Val319Ile V319I not reviewed Insufficiently evaluated not reviewed unknown Array rs775882 3206 10758 0.298011 26 0 33 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 2 - 2 - - NLRP7 Leu311Ile L311I not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - -2 - 1 N - - NLRP7 Gln310Arg Q310R not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - 0 - 1 N - - NLRP8 Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array rs306507 6756 10758 0.627998 54 0 77 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 0 N - - NLRP8 Val48Met V48M not reviewed Insufficiently evaluated not reviewed unknown Array 60 10756 0.00557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.209 - - 0 - 1 N - - NLRP8 Leu64Phe L64F not reviewed Insufficiently evaluated not reviewed unknown Array rs61195059 859 10758 0.0798476 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.327 - - 0 - 0 N - - NLRP8 Val116Leu V116L not reviewed Insufficiently evaluated not reviewed unknown Array rs306506 6812 10758 0.633203 54 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NLRP8 Ala234Thr A234T not reviewed Insufficiently evaluated not reviewed unknown Array rs11880691 631 10758 0.058654 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 0 N - - NLRP8 Gln268Arg Q268R not reviewed Insufficiently evaluated not reviewed unknown Array rs7259764 906 10758 0.0842164 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 1 N - - NLRP8 Gln367Glu Q367E not reviewed Insufficiently evaluated not reviewed unknown Array rs11880748 110 10758 0.0102249 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.535 - - -2 - 2 - 1 - - NLRP8 Ala543Val A543V not reviewed Insufficiently evaluated not reviewed unknown Array rs41391053 237 10758 0.0220301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - NLRP8 Arg651Trp R651W not reviewed Insufficiently evaluated not reviewed unknown Array rs41481648 1015 10758 0.0943484 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.884 - - 7 Y 1 N - - NLRP8 Arg690Cys R690C not reviewed Insufficiently evaluated not reviewed unknown Array rs6509975 94 10758 0.00873768 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NLRP8 Val782Ala V782A not reviewed Insufficiently evaluated not reviewed unknown Array rs306496 6354 10758 0.59063 51 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NLRP8 Gln865Arg Q865R not reviewed Insufficiently evaluated not reviewed unknown Array rs61740015 688 10758 0.0639524 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NLRP8 Ala919Val A919V not reviewed Insufficiently evaluated not reviewed unknown Array rs58799997 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - NLRP8 Lys937Arg K937R not reviewed Insufficiently evaluated not reviewed unknown Array rs306481 5453 10758 0.506879 40 0 51 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - NLRP9 Ala822Val A822V not reviewed Insufficiently evaluated not reviewed unknown Array rs73933317 208 10754 0.0193416 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - NLRP9 Ile42Met I42M not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - NLRX1 Ser14Pro S14P not reviewed Insufficiently evaluated not reviewed unknown Array rs11828801 171 10758 0.0158951 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRX1 Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array rs60612369 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NLRX1 Pro63Ser P63S not reviewed Insufficiently evaluated not reviewed unknown Array rs643423 6125 10758 0.569344 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NLRX1 Tyr330Asp Y330D not reviewed Insufficiently evaluated not reviewed unknown Array 476 10758 0.0442461 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRX1 Ala793Glu A793E not reviewed Insufficiently evaluated not reviewed unknown Array rs4245191 6191 10758 0.575479 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NMB Met120Ile M120I not reviewed Insufficiently evaluated not reviewed unknown Array rs17598561 781 10758 0.0725971 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NMB Pro73Thr P73T not reviewed Insufficiently evaluated not reviewed unknown Array rs1051168 2048 10750 0.190512 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.362 - - 4 Y 0 N - - NMBR Leu390Met L390M not reviewed Insufficiently evaluated not reviewed unknown Array rs7453944 907 10758 0.0843094 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NMBR Arg310Trp R310W not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NME3 Thr18Pro T18P not reviewed Insufficiently evaluated not reviewed unknown Array 50 9122 0.00548125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NME6 Glu165Lys E165K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NME7 Leu323Met L323M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NME7 Leu359Met L359M not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -3 - 2 N - - NMI Ser16Leu S16L not reviewed Insufficiently evaluated not reviewed unknown Array rs1048135 3521 10710 0.328758 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NMNAT1 Glu121Stop E121X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NMNAT2 Glu200Gly E200G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NMNAT2 Glu205Gly E205G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 6 Y 1 N - - NMNAT3 Arg146Gly R146G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NMS Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs59029020 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - NMS Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 3 - 10 - - NMS Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array rs13411940 2543 10758 0.236382 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.457 - - 3 - 0 N - - NMS Leu97Arg L97R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - NMT1 Ala231Glu A231E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 3 - 2 N - - NMT2 Leu443Arg L443R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.245 - - 6 Y 1 N - - NMU Phe148Leu F148L not reviewed Insufficiently evaluated not reviewed unknown Array rs12108463 505 10746 0.0469942 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - NMU Ala19Glu A19E not reviewed Insufficiently evaluated not reviewed unknown Array 244 7670 0.0318123 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 1 - 10 - - NMUR1 Gln294Pro Q294P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - NMUR2 Ala395Thr A395T not reviewed Insufficiently evaluated not reviewed unknown Array rs1363422 10732 10758 0.997583 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NMUR2 Met388Val M388V not reviewed Insufficiently evaluated not reviewed unknown Array rs4958531 1496 10758 0.139059 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NMUR2 Pro383Leu P383L not reviewed Insufficiently evaluated not reviewed unknown Array rs4958532 1496 10758 0.139059 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 1 N - - NMUR2 Phe315Leu F315L not reviewed Insufficiently evaluated not reviewed unknown Array rs1895245 1496 10758 0.139059 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 1 N - - NMUR2 Ser298Thr S298T not reviewed Insufficiently evaluated not reviewed unknown Array rs4958535 1497 10758 0.139152 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NNAT Ala7Gly A7G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NNT Lys63Arg K63R not reviewed Insufficiently evaluated not reviewed unknown Array rs35201656 350 10758 0.0325339 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.97 - - -3 - 2 N - - NNT Leu663Phe L663F not reviewed Insufficiently evaluated not reviewed unknown Array rs41271083 343 10758 0.0318832 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.809 - - 0 - 1 N - - NNT Thr1062Met T1062M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - NOB1 Asn256Asp N256D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - NOB1 Arg231Gln R231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3811348 4668 10758 0.43391 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NOBOX Gly482Ser G482S not reviewed Insufficiently evaluated not reviewed unknown Array rs2525702 9 76 0.118421 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NOBOX Asp452Asn D452N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NOBOX Arg117Trp R117W not reviewed Insufficiently evaluated not reviewed unknown Array rs7800847 6 126 0.047619 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOC2L Arg693Gln R693Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 0 - 2 N - - NOC2L Asn510His N510H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 0 - 1 N - - NOC2L Ile300Val I300V not reviewed Insufficiently evaluated not reviewed unknown Array rs3748597 9955 10754 0.925702 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NOC2L Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array rs3828049 513 10756 0.0476943 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - NOC3L Glu751Gly E751G not reviewed Insufficiently evaluated not reviewed unknown Array rs57550068 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - NOC3L Asn747Ser N747S not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NOC3L Ala695Thr A695T not reviewed Insufficiently evaluated not reviewed unknown Array rs17517578 1560 10758 0.145008 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NOC3L Lys658Thr K658T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.755 - - 3 - 1 N - - NOC3L Thr655Ser T655S not reviewed Insufficiently evaluated not reviewed unknown Array rs12259382 340 10758 0.0316044 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.548 - - -2 - 1 N - - NOC3L Glu472Ala E472A not reviewed Insufficiently evaluated not reviewed unknown Array rs3758526 1449 10754 0.134741 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 1 N - - NOC3L Pro444Arg P444R not reviewed Insufficiently evaluated not reviewed unknown Array rs11187895 698 10674 0.0653925 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.061 - - 5 Y 0 N - - NOC3L Pro194Leu P194L not reviewed Insufficiently evaluated not reviewed unknown Array rs12572897 1430 10754 0.132974 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.183 - - 7 Y 0 N - - NOC3L Ile161Val I161V not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.542 - - -4 - 1 N - - NOC3L Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOC4L Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - NOD1 Leu916Arg L916R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - NOD1 Arg447His R447H not reviewed Insufficiently evaluated not reviewed unknown Array rs2975634 281 10758 0.0261201 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.218 - - 1 - 1 N - - NOD1 Glu266Lys E266K not reviewed Insufficiently evaluated not reviewed unknown Array rs2075820 3090 10758 0.287228 25 0 32 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - NOD2 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array rs34684955 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 2 - 8 - - NOD2 Pro268Ser P268S not reviewed Insufficiently evaluated not reviewed unknown Array rs2066842 2123 10756 0.197378 13 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 10 - - NOD2 Asn289Ser N289S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y - 0 - 4 - 9 - - NOD2 Ser431Leu S431L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.17 Y - 6 Y 2 - 10 - - NOD2 Arg702Trp R702W pathogenic Low clinical importance, Likely pathogenic other Array rs2066844 360 10752 0.0334821 2 0 2 3 3 2 Y - - 4 Y 0 - 4 Y 3 Y Y Y - - 0.97 Y - 7 Y Crohn Disease 98 808 9 197 2.655 5 N 10 0 1 NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn's disease in European populations, but not in Korean or Japanese groups. NOD2 Arg790Trp R790W pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.791 Y - 7 Y 3 - 6 - - This variant was seen as a compound heterozygote with p.Leu1007fs in a patient with severe Crohn's disease. NOD2 Val793Met V793M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.058 Y - 0 - 2 - 10 - - NOD2 Gly908Arg G908R pathogenic Low clinical importance, Likely pathogenic undefined Array 115 10758 0.0106897 0 0 0 2 2 2 Y - - 3 Y 0 - 3 Y 4 - Y Y - - 0.508 Y - 6 Y 4 N 10 0 1 This variant is associated with an increased susceptibility to Crohn's disease and other inflammatory bowel diseases (IBD). Assuming an overall prevalence of 0.5% for IBD, this variant implies an increased attributable risk of 2% (5x increased risk, for an overall risk of 2.5% of IBD for people with this variant). NOD2 Val955Ile V955I not reviewed Insufficiently evaluated not reviewed unknown Array rs5743291 732 10758 0.0680424 6 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 2 - 10 - - NODAL His165Arg H165R not reviewed Insufficiently evaluated not reviewed unknown Array rs1904589 5756 10758 0.535044 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 0 N - - NOL10 Asp635Asn D635N not reviewed Insufficiently evaluated not reviewed unknown Array rs2287059 2383 10756 0.221551 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.266 - - -1 - 0 N - - NOL11 Val115Ala V115A not reviewed Insufficiently evaluated not reviewed unknown Array rs2291284 16 10758 0.00148726 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - NOL4 Lys431Stop K431X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOL6 Gly519Val G519V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 8 Y 2 N - - NOL8 Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array rs41277645 50 9536 0.00524329 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 0 N - - NOL9 Ser58Ala S58A not reviewed Insufficiently evaluated not reviewed unknown Array rs6693391 5882 6146 0.957045 20 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NOL9 Trp50Arg W50R not reviewed Insufficiently evaluated not reviewed unknown Array rs6693400 4489 4630 0.969546 10 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NOL9 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array rs4908923 5898 7616 0.774422 38 0 63 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 1 N - - NOLC1 Glu95Gly E95G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NOLC1 Gln141Lys Q141K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NOLC1 Gly412Val G412V not reviewed Insufficiently evaluated not reviewed unknown Array rs11191224 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NOLC1 Ser456Pro S456P not reviewed Insufficiently evaluated not reviewed unknown Array rs1049455 2288 10756 0.212718 22 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NOM1 Arg24Gly R24G not reviewed Insufficiently evaluated not reviewed unknown Array rs6969990 969 8378 0.11566 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NOM1 His122Pro H122P not reviewed Insufficiently evaluated not reviewed unknown Array rs6952214 1052 8452 0.124468 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - NOM1 Ala278Glu A278E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747373 1938 10746 0.180346 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.312 - - 3 - 0 N - - NOM1 Arg779His R779H not reviewed Insufficiently evaluated not reviewed unknown Array rs2302445 5625 10758 0.522867 45 0 62 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - NOM1 Val804Leu V804L not reviewed Insufficiently evaluated not reviewed unknown Array rs2302443 5768 10758 0.536159 49 0 64 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NOM1 Val812Met V812M not reviewed Insufficiently evaluated not reviewed unknown Array rs12919 6078 10758 0.564975 51 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NOMO1 Asn726Lys N726K not reviewed Insufficiently evaluated not reviewed unknown Array 1603 10756 0.149033 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NOMO1 Val1075Ile V1075I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -4 - 2 N - - NOMO1 Glu1153Gly E1153G not reviewed Insufficiently evaluated not reviewed unknown Array 4557 10750 0.423907 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.565 - - 6 Y 0 N - - NOMO1 Arg1190Gln R1190Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - NOMO1 Arg1195Gly R1195G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NOMO1 Ala1196Val A1196V not reviewed Insufficiently evaluated not reviewed unknown Array 4342 10746 0.404057 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - NOMO2 Ser225Asn S225N not reviewed Insufficiently evaluated not reviewed unknown Array 252 10752 0.0234375 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NONO Ala288Val A288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - NONO Ala377Val A377V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 2 - 1 N - - NOP14 Pro752Leu P752L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 7 Y 2 - 1 - - NOP14 Gln716Arg Q716R not reviewed Insufficiently evaluated not reviewed unknown Array rs1054090 5225 10758 0.485685 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NOP14 Thr558Ala T558A not reviewed Insufficiently evaluated not reviewed unknown Array 273 10750 0.0253953 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - NOP14 Leu380Ser L380S not reviewed Insufficiently evaluated not reviewed unknown Array rs2515960 5306 10758 0.493214 42 0 56 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NOP14 Met272Lys M272K not reviewed Insufficiently evaluated not reviewed unknown Array rs61747144 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - NOP2 Arg257Gln R257Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 9904 0.00292811 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - NOP56 Ile121Val I121V not reviewed Insufficiently evaluated not reviewed unknown Array rs2273137 746 10758 0.0693437 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - NOP56 Ala456Val A456V not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - NOP56 Met475Thr M475T not reviewed Insufficiently evaluated not reviewed unknown Array rs6753 3817 10600 0.360094 37 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NOP56 Val576Ala V576A not reviewed Insufficiently evaluated not reviewed unknown Array rs5856 3426 10550 0.324739 35 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NOS2 Ser608Leu S608L not reviewed Insufficiently evaluated not reviewed unknown Array rs2297518 1814 10758 0.168619 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - NOS2 Leu586Val L586V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - NOS2 Arg221Trp R221W not reviewed Insufficiently evaluated not reviewed unknown Array rs3730017 839 10758 0.0779885 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.637 - - 7 Y 0 N - - NOS3 Asp298Glu D298E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799983 8047 10742 0.749116 52 0 86 1 1 - - - - - - - - - - - - Y - - Y - - - -2 - 2 N 8 - - NOS3 Cys602Tyr C602Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - NOS3 Arg665His R665H not reviewed Insufficiently evaluated not reviewed unknown Array rs7792133 69 10758 0.00641383 5 0 6 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 2 - 1 - - NOS3 Leu876Pro L876P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - NOSTRIN Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - NOSTRIN Arg167Gln R167Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73969974 372 10214 0.0364206 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - NOSTRIN Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOSTRIN Gly395Glu G395E not reviewed Insufficiently evaluated not reviewed unknown Array rs479661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NOSTRIN Gly473Glu G473E not reviewed Insufficiently evaluated not reviewed unknown Array rs479661 8377 9666 0.866646 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NOTCH1 Pro2133Ser P2133S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10332 0.00474255 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - NOTCH1 Asn1421Ser N1421S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9824 0.000305374 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - NOTCH1 Pro1256Leu P1256L not reviewed Insufficiently evaluated not reviewed unknown Array 60 10298 0.00582637 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - NOTCH2 Ile1689Phe I1689F not reviewed Insufficiently evaluated not reviewed unknown Array rs60854092 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.135 Y Y 2 - 2 N - - NOTCH2 Gly1386Arg G1386R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y 6 Y 4 N - - NOTCH2 Asn506Ser N506S not reviewed Insufficiently evaluated not reviewed unknown Array rs73004269 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 0 - 4 N - - NOTCH2 Cys19Trp C19W not reviewed Insufficiently evaluated not reviewed unknown Array rs11810554 2924 9148 0.319633 5 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - NOTCH2NL Ser67Pro S67P not reviewed Insufficiently evaluated not reviewed unknown Array 1304 10758 0.121212 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - NOTCH2NL Pro113Leu P113L not reviewed Insufficiently evaluated not reviewed unknown Array 1438 10756 0.133693 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - NOTCH2NL Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array 210 10756 0.019524 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - NOTCH2NL Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array 3988 10758 0.370701 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 1 N - - NOTCH2NL Ser181Arg S181R not reviewed Insufficiently evaluated not reviewed unknown Array 2426 10758 0.225507 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - NOTCH2NL Pro188His P188H not reviewed Insufficiently evaluated not reviewed unknown Array 1725 10758 0.160346 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 1 N - - NOTCH3 Ala2223Val A2223V not reviewed Insufficiently evaluated not reviewed unknown Array rs1044009 7511 10282 0.7305 46 0 73 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - NOTCH3 Val1952Gly V1952G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 8 Y 4 N - - NOTCH3 Val1952Met V1952M benign Low clinical importance, Uncertain benign unknown Array 84 10758 0.00780814 1 0 1 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.859 Y Y 0 - 4 N 0 0 Probably benign. NOTCH3 Val1183Met V1183M not reviewed Insufficiently evaluated not reviewed unknown Array rs10408676 974 10756 0.0905541 12 0 15 1 1 - - - - - - - - - - - - Y - - - 0.053 Y Y 0 - 3 - 1 - - NOTCH3 Arg1143Cys R1143C not reviewed Insufficiently evaluated not reviewed unknown Array rs60373464 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.838 Y Y 8 Y 3 N - - NOTCH3 His1133Gln H1133Q benign Low clinical importance, Uncertain benign unknown Array 142 10758 0.0131995 1 0 1 1 1 ! Y - - 4 Y - - - - - - Y - - - 0.953 Y Y -1 - 4 N 0 0 Probably benign. NOTCH3 Ala1020Pro A1020P benign Low clinical importance, Likely benign undefined Array rs35769976 1202 10748 0.111835 16 0 21 3 3 2 Y - - 4 Y 0 Y - - - - Y Y - - 0.003 Y Y 2 - CADASIL 2 0 42 285 INF 4 N 3 0 1 Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data. NOTCH4 Gly1121Arg G1121R not reviewed Insufficiently evaluated not reviewed unknown Array 2 7490 0.000267022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.574 - - 6 Y 1 N - - NOTCH4 Gly942Arg G942R not reviewed Insufficiently evaluated not reviewed unknown Array rs17604492 190 7514 0.0252861 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NOTCH4 Gly924Ser G924S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - NOTCH4 Cys815Gly C815G not reviewed Insufficiently evaluated not reviewed unknown Array 20 7458 0.00268168 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NOTCH4 Thr320Ala T320A not reviewed Insufficiently evaluated not reviewed unknown Array rs422951 2956 7524 0.392876 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NOTCH4 Asp272Gly D272G not reviewed Insufficiently evaluated not reviewed unknown Array rs71556915 3030 10758 0.281651 29 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NOTCH4 Lys117Gln K117Q not reviewed Insufficiently evaluated not reviewed unknown Array rs915894 3949 10758 0.367076 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NOTO Arg5Thr R5T not reviewed Insufficiently evaluated not reviewed unknown Array 316 2304 0.137153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NOV Arg42Gln R42Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2279112 3760 10510 0.357755 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NOX1 Arg378Lys R378K not reviewed Insufficiently evaluated not reviewed unknown Array rs35404864 244 8761 0.0278507 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.174 - - -3 - 1 - 2 - - NOX1 Asp360Asn D360N not reviewed Insufficiently evaluated not reviewed unknown Array rs34688635 164 8761 0.0187193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - NOX3 Gln345Lys Q345K not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - NOX3 Thr171Lys T171K not reviewed Insufficiently evaluated not reviewed unknown Array rs3749930 559 10758 0.0519613 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - NOX4 Met291Ile M291I not reviewed Insufficiently evaluated not reviewed unknown Array rs317139 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NOX4 Met315Ile M315I not reviewed Insufficiently evaluated not reviewed unknown Array rs317139 10692 10758 0.993865 55 0 109 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - NOX5 Pro125Ala P125A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOX5 Trp282Stop W282X not reviewed Insufficiently evaluated not reviewed unknown Array rs34406284 309 10758 0.0287228 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOX5 Gly353Cys G353C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOX5 Leu362Phe L362F not reviewed Insufficiently evaluated not reviewed unknown Array rs12907196 4537 10758 0.421733 23 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NOX5 Leu388Pro L388P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOX5 Leu389Phe L389F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOX5 Arg558His R558H not reviewed Insufficiently evaluated not reviewed unknown Array rs2277552 429 10758 0.0398773 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NOXA1 Asp6Glu D6E not reviewed Insufficiently evaluated not reviewed unknown Array 556 8948 0.0621368 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.334 - - -2 - 0 N - - NOXA1 Leu137Ile L137I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10696 0.0039267 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 1 N - - NOXA1 Arg176Trp R176W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - NOXA1 Pro286Leu P286L not reviewed Insufficiently evaluated not reviewed unknown Array rs34155071 2598 10676 0.24335 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.037 - - 7 Y 0 N - - NOXA1 Asp333Gly D333G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - NOXA1 Leu351His L351H not reviewed Insufficiently evaluated not reviewed unknown Array 53 10468 0.00506305 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NOXO1 Leu152Phe L152F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOXO1 Leu153Phe L153F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOXO1 Leu158Phe L158F not reviewed Insufficiently evaluated not reviewed unknown Array rs61729118 867 10718 0.080892 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 0 N - - NOXO1 Arg39His R39H not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - NP Gly51Ser G51S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 2 - 10 - - NPAS1 Gly390Glu G390E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.698 - - 6 Y 1 N - - NPAS2 Arg389Gln R389Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPAS2 Thr394Ala T394A not reviewed Insufficiently evaluated not reviewed unknown Array rs2305160 8032 10758 0.746607 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NPAS2 Ser471Leu S471L not reviewed Insufficiently evaluated not reviewed unknown Array rs11541353 1611 10758 0.149749 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NPAS2 Ala690Thr A690T not reviewed Insufficiently evaluated not reviewed unknown Array rs58728948 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPAS3 Ala520Pro A520P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPAS3 Ala539Pro A539P not reviewed Insufficiently evaluated not reviewed unknown Array rs12434716 1820 10758 0.169176 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NPAS4 Ala264Pro A264P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPAS4 Gln265Lys Q265K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.583 - - -2 - 1 N - - NPAS4 Met317Leu M317L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - NPAS4 Ser394Thr S394T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - NPAS4 Gln500Lys Q500K not reviewed Insufficiently evaluated not reviewed unknown Array rs71457718 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.536 - - -2 - 1 N - - NPAT Arg1294Leu R1294L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - NPAT Leu1036Ile L1036I not reviewed Insufficiently evaluated not reviewed unknown Array rs35303872 269 9590 0.0280501 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - NPAT Asn999Lys N999K not reviewed Insufficiently evaluated not reviewed unknown Array rs34052882 670 9534 0.0702748 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 - 3 - - NPAT Val608Ala V608A not reviewed Insufficiently evaluated not reviewed unknown Array rs35095430 226 9550 0.0236649 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NPAT Val575Ile V575I not reviewed Insufficiently evaluated not reviewed unknown Array rs2070661 5637 9456 0.596129 42 0 59 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NPAT Leu540Phe L540F not reviewed Insufficiently evaluated not reviewed unknown Array rs4144901 1108 9432 0.117472 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 0 N - - NPBWR1 Tyr135Phe Y135F not reviewed Insufficiently evaluated not reviewed unknown Array rs33977775 4 124 0.0322581 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NPBWR1 Arg319Cys R319C not reviewed Insufficiently evaluated not reviewed unknown Array rs36068168 3 116 0.0258621 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NPBWR2 Pro313Ser P313S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - NPBWR2 Gln206Arg Q206R not reviewed Insufficiently evaluated not reviewed unknown Array rs4809401 14 122 0.114754 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NPC1 Arg1266Gln R1266Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1805084 1065 10758 0.0989961 16 0 18 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 10 - - NPC1 Ala1187Val A1187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y 2 - 3 - 2 - - NPC1 Ile858Val I858V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805082 4786 10758 0.444878 38 0 49 0 0 4 Y - - - - - - - - - - Y - - - 0.061 Y Y -4 - 3 - 10 - - NPC1 Met642Ile M642I not reviewed Insufficiently evaluated not reviewed unknown Array rs1788799 7935 10758 0.737591 35 0 54 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 1 - - NPC1 Thr511Met T511M not reviewed Insufficiently evaluated not reviewed unknown Array rs13381670 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.422 Y Y 2 - 4 - 2 - - NPC1 Pro434Ser P434S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731962 163 10758 0.0151515 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 3 - 2 N - - NPC1 His215Arg H215R protective Low clinical importance, Likely protective other Array rs1805081 3181 10758 0.295687 21 0 24 3 3 2 Y - - 4 Y - - 3 - - - Y - Y Y - Y Y 1 - 4 N 10 0 1 This variant is associated with a reduced risk of obesity, with an additive effect of -0.084 BMI per allele (an average of 0.54 pounds less, per allele, in a 5'6" individual). NPC1 Asn86Thr N86T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.054 Y Y 1 - 2 N - - NPC1L1 Ser868Asn S868N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPC1L1 Asn387Ser N387S not reviewed Insufficiently evaluated not reviewed unknown Array 443 10758 0.0411787 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPDC1 Ala323Thr A323T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPEPL1 Arg76Ser R76S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPEPL1 Gly279Arg G279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NPEPL1 Pro513Arg P513R not reviewed Insufficiently evaluated not reviewed unknown Array rs6026468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NPEPPS Arg267Cys R267C not reviewed Insufficiently evaluated not reviewed unknown Array rs3968300 8 80 0.1 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - NPFF Trp88Arg W88R not reviewed Insufficiently evaluated not reviewed unknown Array rs35822762 226 10758 0.0210076 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - 7 Y 0 N - - NPFFR1 Arg345Ser R345S not reviewed Insufficiently evaluated not reviewed unknown Array 6 122 0.0491803 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - NPFFR1 Ile143Leu I143L not reviewed Insufficiently evaluated not reviewed unknown Array rs3812694 26 122 0.213115 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NPFFR2 Glu26Lys E26K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - NPFFR2 Thr221Ile T221I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPFFR2 Thr224Ile T224I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPFFR2 Thr323Ile T323I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734660 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - NPHP1 Pro39Thr P39T not reviewed Insufficiently evaluated not reviewed unknown Array rs33958626 293 10758 0.0272355 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.052 Y Y 4 Y 2 N - - NPHP4 Pro1160Leu P1160L not reviewed Insufficiently evaluated not reviewed unknown Array rs113445782 137 10120 0.0135375 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.439 Y - 7 Y 2 N - - NPHP4 Arg740His R740H not reviewed Insufficiently evaluated not reviewed unknown Array rs34248917 243 9982 0.0243438 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 2 - 2 - - NPHP4 Thr29Met T29M not reviewed Insufficiently evaluated not reviewed unknown Array rs12142270 424 10184 0.0416339 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 2 - 3 N - - NPHS1 Asn1077Ser N1077S not reviewed Insufficiently evaluated not reviewed unknown Array rs4806213 1143 10758 0.106247 10 0 11 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 3 - 5 - - NPHS1 Arg408Gln R408Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33950747 483 10758 0.0448968 4 0 4 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 4 - 9 - - NPHS1 Glu117Lys E117K not reviewed Insufficiently evaluated not reviewed unknown Array rs3814995 2443 10758 0.227087 21 0 27 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 0 - 3 - 8 - - NPHS1 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array rs73928330 38 10504 0.00361767 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - NPIP Leu313Phe L313F not reviewed Insufficiently evaluated not reviewed unknown Array 1366 6058 0.225487 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NPIPL3 Leu271Val L271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPIPL3 Leu355Pro L355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NPIPL3 Pro521Thr P521T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NPIPL3 Arg588Gln R588Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPL Ser61Leu S61L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 1 - 2 - - NPM2 Asp194Gly D194G not reviewed Insufficiently evaluated not reviewed unknown Array 249 10756 0.0231499 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - NPNT Gln159His Q159H not reviewed Insufficiently evaluated not reviewed unknown Array rs35132891 3801 10758 0.353318 38 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NPNT Ile234Val I234V not reviewed Insufficiently evaluated not reviewed unknown Array rs4340795 9126 10758 0.848299 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NPNT Glu434Lys E434K not reviewed Insufficiently evaluated not reviewed unknown Array rs58193089 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPNT Gly473Ser G473S not reviewed Insufficiently evaluated not reviewed unknown Array rs35613262 349 10758 0.032441 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - NPPA Val32Met V32M not reviewed Insufficiently evaluated not reviewed unknown Array rs5063 556 10758 0.0516825 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 10 - - NPPC Gln44Arg Q44R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - NPR1 Cys118Gly C118G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NPR1 Tyr120His Y120H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - NPR1 Arg939Gln R939Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35240348 1221 10744 0.113645 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NPR3 Asn521Asp N521D not reviewed Insufficiently evaluated not reviewed unknown Array rs2270915 1687 9528 0.177057 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NPS Ser14Leu S14L not reviewed Insufficiently evaluated not reviewed unknown Array rs990310 1107 9832 0.112592 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NPS Val75Leu V75L not reviewed Insufficiently evaluated not reviewed unknown Array rs4751440 976 9630 0.10135 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.55 - - 0 - 0 N - - NPSR1 Asn107Ile N107I not reviewed Insufficiently evaluated not reviewed unknown Array rs324981 5265 10758 0.489403 43 0 53 0 0 2 Y - - - - - - - - - - - Y - - - - - 7 Y 2 N - - NPSR1 Arg122Gln R122Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35436513 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 3 - 2 - - NPSR1 Ser241Arg S241R not reviewed Insufficiently evaluated not reviewed unknown Array rs727162 2461 10758 0.22876 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - NPSR1 Gln344Arg Q344R not reviewed Insufficiently evaluated not reviewed unknown Array rs6972158 3928 10758 0.365124 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NPSR1 Arg347His R347H not reviewed Insufficiently evaluated not reviewed unknown Array rs28480169 7 124 0.0564516 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NPSR1 Arg360Stop R360X not reviewed Insufficiently evaluated not reviewed unknown Array rs72496124 24 124 0.193548 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - NPTX1 Pro388Ser P388S not reviewed Insufficiently evaluated not reviewed unknown Array rs73432807 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - NPTX2 Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array 33 5782 0.00570737 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NPTX2 Thr210Pro T210P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - NPTX2 Gly329Stop G329X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NPVF Asp42Gly D42G not reviewed Insufficiently evaluated not reviewed unknown Array rs877834 1715 10728 0.159862 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - NPVF Ile32Met I32M not reviewed Insufficiently evaluated not reviewed unknown Array rs886354 10178 10740 0.947672 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NPW Pro88Ser P88S not reviewed Insufficiently evaluated not reviewed unknown Array rs2286471 1014 8066 0.125713 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 1 N - - NPW Glu100Gln E100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11248906 1264 8758 0.144325 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - NPW Asp149Ala D149A not reviewed Insufficiently evaluated not reviewed unknown Array rs2286472 3844 9788 0.392726 28 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NPY Leu7Pro L7P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs16139 297 10758 0.0276074 4 0 3 2 2 - - - - - - - - - - - - - Y - Y 0.137 - - 7 Y 2 N - - NQO1 Pro149Ser P149S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800566 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NQO1 Pro153Ser P153S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800566 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NQO1 Pro187Ser P187S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800566 2121 10758 0.197156 24 0 25 2 2 3 Y - - - - - - - - - - - Y - Y 0.215 - - 3 - 2 N - - NQO1 Arg139Trp R139W not reviewed Insufficiently evaluated not reviewed unknown Array rs1131341 324 10758 0.0301171 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.946 - - 7 Y 3 - 10 - - NQO2 Lys16Arg K16R not reviewed Insufficiently evaluated not reviewed unknown Array rs28383623 478 10758 0.0444321 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NQO2 Leu47Phe L47F not reviewed Insufficiently evaluated not reviewed unknown Array rs1143684 9092 10758 0.845138 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR0B2 Gly171Ala G171A not reviewed Insufficiently evaluated not reviewed unknown Array rs6659176 797 10758 0.0740844 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.907 - - 1 - 1 N - - NR0B2 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.728 - - 8 Y 2 - 1 - - NR1D1 Asn344Thr N344T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 1 - 2 N - - NR1D2 Leu311Met L311M not reviewed Insufficiently evaluated not reviewed unknown Array rs4858097 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NR1D2 Leu386Met L386M not reviewed Insufficiently evaluated not reviewed unknown Array rs4858097 126 126 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NR1H2 Lys172Gln K172Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.711 - - -2 - 2 - 1 - - NR1H2 Glu176Gln E176Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 54 0.037037 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NR1I2 Pro27Ser P27S not reviewed Insufficiently evaluated not reviewed unknown Array rs12721613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR1I2 Pro66Ser P66S not reviewed Insufficiently evaluated not reviewed unknown Array rs12721613 483 10758 0.0448968 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR1I2 Ala333Thr A333T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - NR1I2 Ala370Thr A370T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 1 - 10 - - NR1I2 Ala409Thr A409T not reviewed Insufficiently evaluated not reviewed unknown Array rs35761343 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - NR2E3 Glu140Gly E140G not reviewed Insufficiently evaluated not reviewed unknown Array rs1805020 134 10074 0.0133016 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 8 - - NR2E3 Met163Thr M163T not reviewed Insufficiently evaluated not reviewed unknown Array rs1805021 150 9546 0.0157134 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 7 - - NR2E3 Val302Ile V302I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10050 9.9502e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 6 - - NR2F6 Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - NR2F6 Pro132Ala P132A not reviewed Insufficiently evaluated not reviewed unknown Array 21 1356 0.0154867 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.54 - - 2 - 1 N - - NR3C1 Val658Ile V658I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -4 - 0 N - - NR3C1 Val659Ile V659I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NR3C2 Asn256Ser N256S not reviewed Insufficiently evaluated not reviewed unknown Array rs72645685 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - NR3C2 Val180Ile V180I not reviewed Insufficiently evaluated not reviewed unknown Array rs5522 9672 10758 0.899052 54 0 99 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 2 - - NR4A1 Leu26Val L26V not reviewed Insufficiently evaluated not reviewed unknown Array rs1882118 829 10758 0.0770589 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - NR4A1 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - NR4A2 Arg548Cys R548C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 8 Y 3 N - - NR4A2 Asn99Asp N99D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - NR4A3 Ser240Gly S240G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR4A3 Ser251Gly S251G not reviewed Insufficiently evaluated not reviewed unknown Array rs12344570 1135 3850 0.294805 16 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NR5A1 Val223Met V223M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NR5A1 Gly146Ala G146A not reviewed Insufficiently evaluated not reviewed unknown Array rs1110061 2605 10574 0.246359 26 0 41 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 10 - - NR5A2 Arg287Pro R287P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR5A2 Arg333Pro R333P not reviewed Insufficiently evaluated not reviewed unknown Array rs61755054 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - NR5A2 Arg494Ile R494I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR5A2 Arg540Ile R540I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - NRAP Arg1531Cys R1531C not reviewed Insufficiently evaluated not reviewed unknown Array rs1885434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Arg1566Cys R1566C not reviewed Insufficiently evaluated not reviewed unknown Array rs1885434 3956 10758 0.367726 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 1 N - - NRAP Met1302Thr M1302T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRAP Met1337Thr M1337T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.154 - - 2 - 0 N - - NRAP Asp1208Val D1208V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Asp1243Val D1243V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - 8 Y 1 N - - NRAP Ile1148Val I1148V not reviewed Insufficiently evaluated not reviewed unknown Array rs10749138 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NRAP Ile1183Val I1183V not reviewed Insufficiently evaluated not reviewed unknown Array rs10749138 4676 10758 0.434653 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NRAP Met1022Val M1022V not reviewed Insufficiently evaluated not reviewed unknown Array rs34523503 115 10758 0.0106897 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - NRAP Met987Val M987V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRAP Asp931Gly D931G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRAP Asp966Gly D966G not reviewed Insufficiently evaluated not reviewed unknown Array 707 10758 0.0657185 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.127 - - 4 Y 0 N - - NRAP Ala905Thr A905T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRAP Ala940Thr A940T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 1 N - - NRAP Arg849Cys R849C not reviewed Insufficiently evaluated not reviewed unknown Array rs868738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Arg884Cys R884C not reviewed Insufficiently evaluated not reviewed unknown Array rs868738 2820 10758 0.26213 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 1 N - - NRAP Pro734Thr P734T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRAP Pro769Thr P769T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - NRAP Ala639Val A639V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRAP Ala674Val A674V not reviewed Insufficiently evaluated not reviewed unknown Array rs2286735 2955 10758 0.274679 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NRAP Asn484Ile N484I not reviewed Insufficiently evaluated not reviewed unknown Array rs2270182 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NRAP Asn519Ile N519I not reviewed Insufficiently evaluated not reviewed unknown Array rs2270182 3278 10758 0.304703 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 1 N - - NRAP Ser455Leu S455L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRAP Ser490Leu S490L not reviewed Insufficiently evaluated not reviewed unknown Array rs3189030 2675 10758 0.248652 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.092 - - 6 Y 0 N - - NRAP Asp449Asn D449N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NRAP Asp484Asn D484N not reviewed Insufficiently evaluated not reviewed unknown Array rs11196400 2024 10758 0.188139 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - NRAP Gln360Arg Q360R not reviewed Insufficiently evaluated not reviewed unknown Array rs3127106 5646 10758 0.524819 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NRAP Ala344Thr A344T not reviewed Insufficiently evaluated not reviewed unknown Array rs3121478 5643 10758 0.52454 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NRAP Ala282Thr A282T not reviewed Insufficiently evaluated not reviewed unknown Array rs2275799 3312 10758 0.307864 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NRAP Tyr249Cys Y249C not reviewed Insufficiently evaluated not reviewed unknown Array rs2185913 2240 10758 0.208217 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - NRAP Val208Ala V208A not reviewed Insufficiently evaluated not reviewed unknown Array rs2154028 9352 10758 0.869307 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NRAP Gln186Glu Q186E not reviewed Insufficiently evaluated not reviewed unknown Array rs35049661 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 1 - 3 - - NRBP1 Ser310Phe S310F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - NRCAM Ala1164Thr A1164T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRCAM Ala1285Thr A1285T not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - NRCAM Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRCAM Arg1118Trp R1118W not reviewed Insufficiently evaluated not reviewed unknown Array 2 9722 0.000205718 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - NRCAM Gly1101Cys G1101C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - 7 Y 0 N - - NRCAM Pro539Ala P539A not reviewed Insufficiently evaluated not reviewed unknown Array rs6958498 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRCAM Pro545Ala P545A not reviewed Insufficiently evaluated not reviewed unknown Array rs6958498 7411 10758 0.688883 45 0 67 0 0 - - - - - - - - - - - - - - - - 0.119 - - 2 - 0 N - - NRD1 Glu154Asp E154D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NRD1 Glu150Val E150V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NRG1 Gly58Arg G58R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRG1 Arg253Gln R253Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3924999 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3924999 3317 10758 0.308329 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 1 N - - NRG1 Gly46Arg G46R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 9 - - NRG1 Val133Leu V133L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - NRG1 Met135Thr M135T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRG1 Met286Thr M286T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRG1 Met289Thr M289T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - NRG1 Met294Thr M294T not reviewed Insufficiently evaluated not reviewed unknown Array rs10503929 1362 10758 0.126603 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NRG1 Glu212Lys E212K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Glu363Lys E363K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Glu366Lys E366K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.692 - - 0 - 1 N - - NRG1 Glu371Lys E371K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731510 458 10758 0.042573 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Arg321Gln R321Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Arg338Gln R338Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Arg542Gln R542Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Arg545Gln R545Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - NRG1 Arg550Gln R550Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73672606 314 10758 0.0291876 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Pro600His P600H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NRG1 Pro603His P603H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - NRG1 Pro608His P608H not reviewed Insufficiently evaluated not reviewed unknown Array rs73672607 578 10758 0.0537275 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NRG1 Gly613Val G613V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRG1 Gly616Val G616V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - NRG1 Gly621Val G621V not reviewed Insufficiently evaluated not reviewed unknown Array 117 10756 0.0108776 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRG1 Arg554Ser R554S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRG1 Arg571Ser R571S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRG1 Arg588Ser R588S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRG2 Arg563His R563H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRG2 Arg569His R569H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - NRG2 Arg571His R571H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRG2 Arg577His R577H not reviewed Insufficiently evaluated not reviewed unknown Array 368 10758 0.0342071 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRG2 Arg323Gln R323Q not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 2 N - - NRG3 Asn552Lys N552K not reviewed Insufficiently evaluated not reviewed unknown Array rs17101193 989 10758 0.0919316 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NRG4 Val37Ile V37I not reviewed Insufficiently evaluated not reviewed unknown Array rs74024031 197 10758 0.018312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NRGN Gly25Asp G25D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRIP1 Asn567Ser N567S not reviewed Insufficiently evaluated not reviewed unknown Array rs9975169 311 10758 0.0289087 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - NRIP1 Tyr315Phe Y315F not reviewed Insufficiently evaluated not reviewed unknown Array rs2228507 98 10758 0.0091095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 8 - - NRIP2 Arg76Stop R76X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NRIP2 Pro39Arg P39R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735301 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.287 - - 5 Y 1 N - - NRIP3 Cys182Ser C182S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - NRK Val358Met V358M not reviewed Insufficiently evaluated not reviewed unknown Array rs209373 2549 7157 0.356155 27 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NRK Thr1326Ile T1326I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRK Leu1489Phe L1489F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRM Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array rs61572689 20 10758 0.00185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.9 - - 8 Y 2 N - - NRN1L Glu89Ala E89A not reviewed Insufficiently evaluated not reviewed unknown Array rs73593844 701 10758 0.0651608 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 1 N - - NRN1L Glu129Lys E129K not reviewed Insufficiently evaluated not reviewed unknown Array rs73594554 1623 10756 0.150893 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 1 N - - NRN1L Pro149Ser P149S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10740 0.0066108 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRP1 Val733Ile V733I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228638 863 10758 0.0802194 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NRP1 Val179Ala V179A not reviewed Insufficiently evaluated not reviewed unknown Array rs7079053 10752 10758 0.999442 36 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NRP2 Arg123Lys R123K not reviewed Insufficiently evaluated not reviewed unknown Array rs849541 10351 10758 0.962168 55 0 104 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - NRSN2 Leu41Val L41V not reviewed Insufficiently evaluated not reviewed unknown Array rs11556643 1440 10758 0.133854 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.375 - - 0 - 0 N - - NRSN2 Glu160Gln E160Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35731713 115 10758 0.0106897 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.738 - - -2 - 2 - 2 - - NRTN Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array 232 6558 0.0353766 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.235 - Y 1 - 2 N - - NRXN2 Arg1268His R1268H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRXN2 Arg1338His R1338H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - NRXN2 Arg292His R292H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRXN2 Leu81Gln L81Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12273892 857 7766 0.110353 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.609 - - 5 Y 0 N - - NSBP1 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NSD1 Val345Leu V345L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NSD1 Val614Leu V614L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733875 1094 10758 0.101692 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 6 - - NSD1 Ser457Pro S457P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NSD1 Ser726Pro S726P not reviewed Insufficiently evaluated not reviewed unknown Array rs28932178 1388 10758 0.12902 24 0 27 0 0 - - - - - - 5 Y - - - - Y - - - 0.92 Y Y 3 - 4 - 7 - - NSD1 Pro1961Ser P1961S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NSD1 Pro2230Ser P2230S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.818 Y Y 3 - 3 N - - NSD1 Met1981Ile M1981I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NSD1 Met2250Ile M2250I not reviewed Insufficiently evaluated not reviewed unknown Array rs35848863 567 10758 0.052705 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.168 Y Y -1 - 3 - 4 - - NSD1 Met1992Thr M1992T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NSD1 Met2261Thr M2261T not reviewed Insufficiently evaluated not reviewed unknown Array rs34165241 567 10758 0.052705 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 3 - 4 - - NSD1 Ala2277Thr A2277T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NSD1 Ala2546Thr A2546T benign Low clinical importance, Uncertain benign unknown Array 273 10748 0.0254001 2 0 2 2 2 0 Y - - 4 Y - - - - - - Y - - - 0.458 Y Y 1 - 4 - 3 0 0 Benign, reported as a polymorphism. NSFL1C Asp179Asn D179N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - -1 - 2 N - - NSFL1C Asp259Asn D259N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NSFL1C Asp290Asn D290N not reviewed Insufficiently evaluated not reviewed unknown Array rs9575 3927 10758 0.365031 33 0 47 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - NSL1 Met254Val M254V not reviewed Insufficiently evaluated not reviewed unknown Array rs15702 7258 10758 0.674661 44 0 66 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NSL1 Ser4Phe S4F not reviewed Insufficiently evaluated not reviewed unknown Array rs17856201 1892 10740 0.176164 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - NSMAF Tyr626Cys Y626C not reviewed Insufficiently evaluated not reviewed unknown Array rs2228505 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NSMAF Tyr657Cys Y657C not reviewed Insufficiently evaluated not reviewed unknown Array 231 10756 0.0214764 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NSMAF Ile17Ser I17S not reviewed Insufficiently evaluated not reviewed unknown Array 201 3036 0.0662055 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NSMCE1 Asn47Ser N47S not reviewed Insufficiently evaluated not reviewed unknown Array rs17856580 1717 10090 0.170168 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NSMCE1 Thr38Arg T38R not reviewed Insufficiently evaluated not reviewed unknown Array rs7195194 909 10422 0.0872193 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NSUN2 Pro760Gln P760Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744358 710 10758 0.0659974 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - NSUN2 Val627Ile V627I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303708 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NSUN4 Leu18Phe L18F not reviewed Insufficiently evaluated not reviewed unknown Array rs41293277 2582 10754 0.240097 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NSUN4 Thr51Ala T51A not reviewed Insufficiently evaluated not reviewed unknown Array rs3737744 2986 10758 0.277561 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.057 - - 1 - 0 N - - NSUN4 Ile325Thr I325T not reviewed Insufficiently evaluated not reviewed unknown Array rs13374337 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.3 - - 3 - 2 - 4 - - NSUN4 Ile365Val I365V not reviewed Insufficiently evaluated not reviewed unknown Array rs9865 1168 10758 0.10857 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - NSUN5B Pro73Ala P73A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NSUN5B Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NSUN5B Lys123Gln K123Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NSUN5C Lys279Arg K279R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NSUN5C Lys303Arg K303R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NSUN7 Ser308Ala S308A not reviewed Insufficiently evaluated not reviewed unknown Array rs2437323 8881 10756 0.825679 54 0 84 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NSUN7 Phe339Ser F339S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - NSUN7 Lys341Asn K341N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - NSUN7 Ile342Thr I342T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - NSUN7 Gly343Stop G343X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NSUN7 Thr622Ala T622A not reviewed Insufficiently evaluated not reviewed unknown Array rs4861066 1028 3234 0.317873 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - NSUN7 Lys650Glu K650E not reviewed Insufficiently evaluated not reviewed unknown Array rs2261167 2941 3234 0.9094 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NSUN7 Val686Gly V686G not reviewed Insufficiently evaluated not reviewed unknown Array rs59965987 32 3234 0.00989487 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - NT5C1B Arg190Met R190M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NT5C1B Arg250Met R250M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - NT5C1B Arg127Gln R127Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NT5C1B Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742608 1202 10564 0.113783 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NT5C2 Gln136Arg Q136R not reviewed Insufficiently evaluated not reviewed unknown Array rs12262171 13 10748 0.00120953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - NT5C2 Lys47Asn K47N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10732 9.3179e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 1 - 2 N - - NT5C2 Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array rs10883841 1178 10758 0.1095 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - NT5C3 Asp283Gly D283G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NT5C3 Asp322Gly D322G not reviewed Insufficiently evaluated not reviewed unknown Array 114 10756 0.0105987 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 4 Y 1 N - - NT5C3L Ser205Cys S205C not reviewed Insufficiently evaluated not reviewed unknown Array rs1046404 8167 10758 0.759156 50 0 85 0 0 - - - - - - - - - - - - - - - - 0.725 - - 3 - 0 N - - NT5C3L Ala201Val A201V not reviewed Insufficiently evaluated not reviewed unknown Array rs1046403 8167 10758 0.759156 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NT5DC2 Ser128Arg S128R not reviewed Insufficiently evaluated not reviewed unknown Array 973 10758 0.0904443 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 0 N - - NT5DC2 Ser91Arg S91R not reviewed Insufficiently evaluated not reviewed unknown Array rs35920544 15 128 0.117188 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - NT5DC2 Val46Ala V46A not reviewed Insufficiently evaluated not reviewed unknown Array 346 1284 0.26947 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NT5E Thr376Ala T376A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229523 8362 10758 0.777282 54 0 92 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NT5E Met379Thr M379T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229524 1837 10758 0.170757 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - NT5E Phe421Tyr F421Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -4 - 2 N - - NT5M Arg208His R208H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10746 0.00316397 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 1 - 1 N - - NTAN1 Ser287Pro S287P not reviewed Insufficiently evaluated not reviewed unknown Array rs1135999 2911 10758 0.270589 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NTAN1 His283Asn H283N not reviewed Insufficiently evaluated not reviewed unknown Array rs1136001 2940 10758 0.273285 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NTF3 Gly76Glu G76E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NTF3 Gly89Glu G89E not reviewed Insufficiently evaluated not reviewed unknown Array rs1805149 723 10758 0.0672058 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NTF3 Lys79Asn K79N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - NTF3 Lys92Asn K92N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - NTF3 Ser80Ala S80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -1 - 0 N - - NTF3 Ser93Ala S93A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NTNG2 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NTNG2 Thr346Ala T346A not reviewed Insufficiently evaluated not reviewed unknown Array rs4962173 10715 10746 0.997115 15 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NTRK1 Arg55His R55H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NTRK1 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 3 - 1 - - NTRK1 Arg408Gln R408Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - NTRK1 Arg438Gln R438Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NTRK1 Arg444Gln R444Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56320207 126 10758 0.0117122 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y 0 - 3 - 1 - - NTRK1 His568Tyr H568Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NTRK1 His598Tyr H598Y pathogenic Low clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 1 1 Y 0 - 0 - 0 - 1 - 0 - Y - - - - Y Y -1 - 4 - 7 0 0 This variant is presumed benign. It was found in combination with a more serious upstream nonsense mutation (i.e. this variant was not even translated to protein) in a single case of congenital pain insensitivity -- that other mutation was implicated in causing disease. NTRK1 His604Tyr H604Y benign Low clinical importance, Uncertain benign unknown Array rs6336 464 10758 0.0431307 2 0 2 3 3 ! Y - - 0 Y - - - - - - Y - - - 0.999 Y Y -1 - 5 - 5 0 0 Various databases and papers treat this variant as a non-pathogenic polymorphism, although it is fairly uncommon and is computational methods predict it to be damaging. NTRK1 Gly577Val G577V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - NTRK1 Gly607Val G607V benign Insufficiently evaluated benign recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 7 - - This variant is found in cis with Q9X and H598Y and they are found in a homozygous fashion in one Italian with congenital pain insensitivity. None of the mutations are found in 100 controls and authors presume that Q9X is the causative mutation. NTRK1 Gly613Val G613V benign Low clinical importance, Uncertain benign unknown Array rs6339 462 10758 0.0429448 2 0 2 3 3 1 Y - - 3 Y - - - - - - Y - - - 0.004 Y Y 8 Y 3 - 2 0 0 Also called G607V, this variant has been reported as a nonpathogenic polymorphism. NTRK3 Val571Gly V571G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - NTS Cys11Trp C11W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 10 - - NTSR1 Thr58Ile T58I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10754 0.00195276 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - NTSR1 Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10752 0.00716146 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - NTSR1 Arg388Cys R388C not reviewed Insufficiently evaluated not reviewed unknown Array rs73918681 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - NTSR2 Pro388Leu P388L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753869 1066 10758 0.099089 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - NTSR2 Arg282Lys R282K not reviewed Insufficiently evaluated not reviewed unknown Array rs34764121 279 10758 0.0259342 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.858 - - -3 - 3 - 2 - - NTSR2 Ala54Val A54V not reviewed Insufficiently evaluated not reviewed unknown Array rs6432225 6841 6954 0.98375 15 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NUAK1 Pro543Arg P543R not reviewed Insufficiently evaluated not reviewed unknown Array rs3741883 1861 10758 0.172988 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 1 N - - NUAK2 Ala516Val A516V not reviewed Insufficiently evaluated not reviewed unknown Array rs35070935 643 10754 0.0597917 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NUAK2 Glu143Lys E143K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NUB1 Pro227Gln P227Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 4 Y 0 N - - NUBP1 Met103Arg M103R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 4 Y 2 N - - NUBP2 Gly24Trp G24W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NUBP2 Gly186Arg G186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NUBP2 Thr200Ala T200A not reviewed Insufficiently evaluated not reviewed unknown Array rs57822546 1090 10756 0.101339 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NUBPL Gly26Val G26V not reviewed Insufficiently evaluated not reviewed unknown Array 41 9868 0.00415484 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - NUBPL Arg226His R226H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.802 - - 1 - 1 N - - NUCB1 Met338Val M338V not reviewed Insufficiently evaluated not reviewed unknown Array rs35456905 58 10758 0.00539134 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.78 - - 0 - 2 - 2 - - NUCB2 Gln338Glu Q338E not reviewed Insufficiently evaluated not reviewed unknown Array rs757081 2270 9442 0.240415 19 0 27 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NUDCD1 Asn397Ser N397S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDCD1 Asn426Ser N426S not reviewed Insufficiently evaluated not reviewed unknown Array rs11550169 737 10748 0.0685709 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUDCD1 Asn365His N365H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDCD1 Asn394His N394H not reviewed Insufficiently evaluated not reviewed unknown Array rs34660136 736 10748 0.0684779 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 0 N - - NUDCD1 Ile240Val I240V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NUDCD1 Ile269Val I269V not reviewed Insufficiently evaluated not reviewed unknown Array rs2980618 3583 10756 0.333116 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NUDCD1 Leu223Phe L223F not reviewed Insufficiently evaluated not reviewed unknown Array rs2980619 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDCD1 Leu252Phe L252F not reviewed Insufficiently evaluated not reviewed unknown Array rs2980619 6930 10756 0.644292 41 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUDCD3 Lys290Glu K290E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - NUDCD3 Arg235Cys R235C not reviewed Insufficiently evaluated not reviewed unknown Array rs11550029 1465 10758 0.136178 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - NUDCD3 Thr3Pro T3P not reviewed Insufficiently evaluated not reviewed unknown Array rs307007 2424 10390 0.233301 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NUDT1 Val106Met V106M not reviewed Insufficiently evaluated not reviewed unknown Array rs4866 116 10758 0.0107827 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - NUDT1 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - NUDT12 Ile235Val I235V not reviewed Insufficiently evaluated not reviewed unknown Array rs34468716 1024 10756 0.0952027 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NUDT13 Gly81Asp G81D not reviewed Insufficiently evaluated not reviewed unknown Array rs34284214 362 10758 0.0336494 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 1 - 3 - - NUDT17 Gly281Val G281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - NUDT18 Tyr59Cys Y59C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NUDT19 Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array 85 10130 0.00839092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - NUDT19 Arg142Gln R142Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8108621 1784 10156 0.17566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - NUDT22 Gly36Cys G36C not reviewed Insufficiently evaluated not reviewed unknown Array rs2286612 1503 10758 0.13971 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.053 - - 7 Y 0 N - - NUDT22 Gln227Arg Q227R not reviewed Insufficiently evaluated not reviewed unknown Array rs633561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDT22 Gln260Arg Q260R not reviewed Insufficiently evaluated not reviewed unknown Array rs633561 10122 10758 0.940881 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUDT22 Leu230Pro L230P not reviewed Insufficiently evaluated not reviewed unknown Array rs633557 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NUDT22 Leu263Pro L263P not reviewed Insufficiently evaluated not reviewed unknown Array rs633557 10215 10758 0.949526 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NUDT6 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1048201 1476 10758 0.1372 17 0 18 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - NUDT6 Arg40Gln R40Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1048201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDT6 Cys114Arg C114R not reviewed Insufficiently evaluated not reviewed unknown Array rs12648093 6119 10118 0.604764 41 0 62 0 0 - - - - - - - - - - - - - - - - 0.036 - - 8 Y 0 N - - NUDT7 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array rs308925 1526 10218 0.149344 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - NUDT7 Asp116His D116H not reviewed Insufficiently evaluated not reviewed unknown Array 152 10112 0.0150316 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.374 - - 3 - 1 N - - NUDT7 Glu181Gly E181G not reviewed Insufficiently evaluated not reviewed unknown Array rs16946429 525 9856 0.053267 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - NUDT7 Thr192Lys T192K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - NUDT9 Asn265Asp N265D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NUDT9 Asn315Asp N315D not reviewed Insufficiently evaluated not reviewed unknown Array rs56760389 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - NUF2 Ser229Leu S229L not reviewed Insufficiently evaluated not reviewed unknown Array rs11802875 1654 10404 0.158977 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.923 - - 6 Y 1 N - - NUF2 Ser239Arg S239R not reviewed Insufficiently evaluated not reviewed unknown Array rs16852767 238 10550 0.0225592 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NUFIP1 Ser36Arg S36R not reviewed Insufficiently evaluated not reviewed unknown Array rs1140993 6210 10734 0.578535 37 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NUMA1 Val1825Met V1825M not reviewed Insufficiently evaluated not reviewed unknown Array rs7949430 294 10758 0.0273285 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUMA1 Arg1681Cys R1681C not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 2 N - - NUMA1 Ala794Gly A794G not reviewed Insufficiently evaluated not reviewed unknown Array rs3750913 280 10758 0.0260271 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 1 N - - NUMA1 Arg443Gln R443Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34335618 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - NUMA1 Lys242Arg K242R not reviewed Insufficiently evaluated not reviewed unknown Array rs34239655 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - -3 - 3 - 2 - - NUMB Gly536Asp G536D not reviewed Insufficiently evaluated not reviewed unknown Array rs17781919 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NUMB Gly547Asp G547D not reviewed Insufficiently evaluated not reviewed unknown Array rs17781919 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NUMB Gly584Asp G584D not reviewed Insufficiently evaluated not reviewed unknown Array rs17781919 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NUMB Gly595Asp G595D not reviewed Insufficiently evaluated not reviewed unknown Array rs17781919 307 10758 0.0285369 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - NUMBL Ala519Thr A519T not reviewed Insufficiently evaluated not reviewed unknown Array rs73546875 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - NUP107 Arg118His R118H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 1 N - - NUP133 Leu1134Val L1134V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.797 - - 0 - 1 N - - NUP133 Ser827Asn S827N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NUP133 Gln406Arg Q406R not reviewed Insufficiently evaluated not reviewed unknown Array rs1065674 3480 10758 0.32348 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUP133 Ile294Val I294V not reviewed Insufficiently evaluated not reviewed unknown Array rs11805194 2419 10758 0.224856 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - NUP133 Ser152Asn S152N not reviewed Insufficiently evaluated not reviewed unknown Array 331 10758 0.0307678 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NUP153 Ser1214Asn S1214N not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP153 Thr1202Ala T1202A not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUP153 Ser836Cys S836C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744976 1169 10758 0.108663 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NUP153 Ala827Thr A827T not reviewed Insufficiently evaluated not reviewed unknown Array rs2274136 8162 10758 0.758691 47 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NUP153 Pro821Leu P821L not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - NUP153 Asn402Lys N402K not reviewed Insufficiently evaluated not reviewed unknown Array rs6906499 3002 10758 0.279048 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NUP153 Ile248Val I248V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228375 2277 10758 0.211656 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NUP155 Ser927Gly S927G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP155 Ser986Gly S986G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.573 - - 2 - 1 N - - NUP160 Thr351Ala T351A not reviewed Insufficiently evaluated not reviewed unknown Array rs3816605 3804 10758 0.353597 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NUP188 Asp1280Gly D1280G not reviewed Insufficiently evaluated not reviewed unknown Array rs73624835 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - NUP205 Met373Thr M373T not reviewed Insufficiently evaluated not reviewed unknown Array rs58392569 257 10758 0.0238892 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP205 Met373Ile M373I not reviewed Insufficiently evaluated not reviewed unknown Array 256 10758 0.0237962 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NUP205 Arg980Cys R980C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NUP205 Glu1356Gln E1356Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7810767 10580 10758 0.983454 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NUP210 Val1787Met V1787M not reviewed Insufficiently evaluated not reviewed unknown Array rs354478 5554 10758 0.516267 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUP210 Leu1752Ser L1752S not reviewed Insufficiently evaluated not reviewed unknown Array rs354479 8485 10758 0.788715 51 0 88 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NUP210 Arg1528Trp R1528W not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - NUP210 Ile1187Val I1187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NUP210 Pro821Ala P821A not reviewed Insufficiently evaluated not reviewed unknown Array rs2280085 1911 10756 0.177668 16 0 15 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - NUP210 Arg786Leu R786L not reviewed Insufficiently evaluated not reviewed unknown Array rs2280084 7047 10744 0.655901 43 0 69 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NUP210 Ala755Val A755V not reviewed Insufficiently evaluated not reviewed unknown Array rs6795271 3328 10758 0.309351 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NUP210 Ile608Val I608V not reviewed Insufficiently evaluated not reviewed unknown Array rs3732671 7053 10758 0.655605 40 0 65 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NUP210 Ala297Thr A297T not reviewed Insufficiently evaluated not reviewed unknown Array rs7628051 6611 10758 0.614519 39 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NUP210L Ile1734Val I1734V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NUP210L Ile1886Val I1886V not reviewed Insufficiently evaluated not reviewed unknown Array rs61738945 220 9638 0.0228263 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NUP210L Val1491Ile V1491I not reviewed Insufficiently evaluated not reviewed unknown Array rs11264875 2402 10154 0.236557 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 0 N - - NUP210L Arg247His R247H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9468 0.000211237 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - NUP214 Ala109Val A109V not reviewed Insufficiently evaluated not reviewed unknown Array rs58363837 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP214 Pro574Ser P574S not reviewed Insufficiently evaluated not reviewed unknown Array rs103612 7236 10758 0.672616 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NUP214 Gly1592Ala G1592A not reviewed Insufficiently evaluated not reviewed unknown Array rs28594669 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - NUP43 His65Tyr H65Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61748673 238 10758 0.0221231 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 2 N - - NUP50 Arg17Cys R17C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NUP50 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NUP54 Asn250Ser N250S not reviewed Insufficiently evaluated not reviewed unknown Array rs61750814 1860 10758 0.172895 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.228 - - 0 - 0 N - - NUP62 Ser283Thr S283T not reviewed Insufficiently evaluated not reviewed unknown Array rs1062798 3354 10748 0.312058 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NUP62 Thr235Ser T235S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 2 N - - NUP62 Ile225Val I225V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 1 - 1 - - NUP62 Gly139Ser G139S not reviewed Insufficiently evaluated not reviewed unknown Array rs3745489 194 10758 0.0180331 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - NUP62 Ser131Phe S131F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 2 N - - NUP62CL Ile177Thr I177T not reviewed Insufficiently evaluated not reviewed unknown Array rs1298577 3403 8761 0.388426 34 0 59 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NUP93 Gly285Arg G285R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NUP93 Glu779Lys E779K not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP98 Gln1142Glu Q1142E not reviewed Insufficiently evaluated not reviewed unknown Array rs35404087 963 10758 0.0895148 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NUPL1 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array rs12871898 4256 10756 0.395686 27 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NUPL1 Asn101Ser N101S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUPL1 Asn113Ser N113S not reviewed Insufficiently evaluated not reviewed unknown Array rs61756128 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUPL1 Ser154Pro S154P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - NUPL1 Ser166Pro S166P not reviewed Insufficiently evaluated not reviewed unknown Array rs12871608 346 10758 0.0321621 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 3 - 2 - 2 - - NUPL2 Pro107Arg P107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - NUPL2 Asp391Asn D391N not reviewed Insufficiently evaluated not reviewed unknown Array rs13243961 737 10758 0.0685072 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.686 - - -1 - 0 N - - NUS1 Ala227Gly A227G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUSAP1 Thr33Ala T33A not reviewed Insufficiently evaluated not reviewed unknown Array rs7178634 70 9614 0.00728105 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - NUSAP1 Thr33Asn T33N not reviewed Insufficiently evaluated not reviewed unknown Array rs7178777 34 9612 0.00353725 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUSAP1 Asp100Gly D100G not reviewed Insufficiently evaluated not reviewed unknown Array rs36124939 142 10166 0.0139681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 4 Y 2 N - - NVL Ser732Phe S732F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NVL Ser838Phe S838F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - NVL Ile673Val I673V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NVL Ile779Val I779V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - NVL Ala366Ser A366S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NVL Ala472Ser A472S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - NWD1 Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array rs73928631 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - NWD1 Leu76Phe L76F not reviewed Insufficiently evaluated not reviewed unknown Array rs11668502 860 10758 0.0799405 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - NWD1 Ala83Thr A83T not reviewed Insufficiently evaluated not reviewed unknown Array rs706764 10752 10758 0.999442 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NWD1 Gln190Arg Q190R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NWD1 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733271 857 10756 0.0796765 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NWD1 Asp342Asn D342N not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - NWD1 Arg346Gln R346Q not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NWD1 Gln765Glu Q765E not reviewed Insufficiently evaluated not reviewed unknown Array rs773930 2072 10758 0.192601 23 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NWD1 Asn791Ile N791I not reviewed Insufficiently evaluated not reviewed unknown Array rs2608737 10757 10758 0.999907 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NWD1 His800Arg H800R not reviewed Insufficiently evaluated not reviewed unknown Array rs2608738 2198 10758 0.204313 18 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NWD1 Asp1406Val D1406V not reviewed Insufficiently evaluated not reviewed unknown Array rs11671361 2064 10758 0.191857 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NXF1 Asp3Glu D3E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 1 - 4 - - NXF5 Arg354Trp R354W not reviewed Insufficiently evaluated not reviewed unknown Array 164 8761 0.0187193 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - NXF5 Arg248Gln R248Q not reviewed Insufficiently evaluated not reviewed unknown Array 521 8433 0.0617811 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 1 - 1 - - NXNL1 Thr178Ile T178I not reviewed Insufficiently evaluated not reviewed unknown Array 31 9918 0.00312563 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - NXNL1 Asn162Ser N162S not reviewed Insufficiently evaluated not reviewed unknown Array rs10408265 293 10466 0.0279954 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - OAF His210Arg H210R not reviewed Insufficiently evaluated not reviewed unknown Array rs2508489 8307 10728 0.774329 37 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OAF Arg217His R217H not reviewed Insufficiently evaluated not reviewed unknown Array rs2508490 7581 10756 0.704816 38 0 57 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OAS1 Gly162Ser G162S not reviewed Insufficiently evaluated not reviewed unknown Array rs1131454 4858 10758 0.451571 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OAS1 Ala352Thr A352T not reviewed Insufficiently evaluated not reviewed unknown Array rs1131476 7945 10758 0.73852 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OAS1 Asp354Gly D354G not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 4 - - OAS1 Arg361Thr R361T not reviewed Insufficiently evaluated not reviewed unknown Array rs1051042 7944 10758 0.738427 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OAS1 Leu386Phe L386F not reviewed Insufficiently evaluated not reviewed unknown Array rs34354934 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - OAS1 Gly397Arg G397R not reviewed Insufficiently evaluated not reviewed unknown Array rs2660 102 128 0.796875 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OAS2 Ser163Arg S163R not reviewed Insufficiently evaluated not reviewed unknown Array rs1293767 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OAS3 Arg18Lys R18K not reviewed Insufficiently evaluated not reviewed unknown Array rs1859330 5784 9318 0.620734 49 0 71 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OAS3 Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array 148 9732 0.0152076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - OAS3 Arg378Lys R378K not reviewed Insufficiently evaluated not reviewed unknown Array rs45519442 54 9976 0.00541299 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OAS3 Ser381Arg S381R not reviewed Insufficiently evaluated not reviewed unknown Array rs2285933 2918 10022 0.291159 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OAS3 Arg844Stop R844X not reviewed Insufficiently evaluated not reviewed unknown Array rs61942233 128 10104 0.0126683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - OASL Val348Met V348M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - OAZ3 Leu101Pro L101P not reviewed Insufficiently evaluated not reviewed unknown Array rs2495397 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OAZ3 Leu146Pro L146P not reviewed Insufficiently evaluated not reviewed unknown Array rs2495397 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OBFC1 Ser265Arg S265R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - OBFC1 Ser248Cys S248C not reviewed Insufficiently evaluated not reviewed unknown Array rs10786775 8841 10758 0.821807 48 0 86 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OBFC1 Thr151Ala T151A not reviewed Insufficiently evaluated not reviewed unknown Array rs2487999 8841 10758 0.821807 51 0 92 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - OBP2A Arg118His R118H not reviewed Insufficiently evaluated not reviewed unknown Array rs72766542 353 10758 0.0328128 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OBP2A Arg123Cys R123C not reviewed Insufficiently evaluated not reviewed unknown Array rs72766543 2112 10758 0.196319 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OBP2A Tyr124His Y124H not reviewed Insufficiently evaluated not reviewed unknown Array rs72766544 2215 10758 0.205893 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OBP2A Gly130Ala G130A not reviewed Insufficiently evaluated not reviewed unknown Array rs55695858 2450 10758 0.227738 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - OBP2A Pro133Ser P133S not reviewed Insufficiently evaluated not reviewed unknown Array rs3178137 2558 10758 0.237777 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - OBP2A Met159Thr M159T not reviewed Insufficiently evaluated not reviewed unknown Array rs2853652 8291 10756 0.770826 34 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OBP2A Leu168Pro L168P not reviewed Insufficiently evaluated not reviewed unknown Array rs3178142 416 10348 0.040201 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OBP2B Arg137Leu R137L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - OBP2B Arg137Trp R137W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 1 - 1 - - OBSCN Gln502Arg Q502R not reviewed Insufficiently evaluated not reviewed unknown Array rs1771487 6602 10520 0.627567 35 0 53 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - OBSCN Ala908Thr A908T not reviewed Insufficiently evaluated not reviewed unknown Array rs1771480 3870 10402 0.372044 27 0 28 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - OBSCN Gly1295Glu G1295E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - OBSCN Glu1373Stop E1373X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OBSCN Val1508Asp V1508D not reviewed Insufficiently evaluated not reviewed unknown Array rs7532342 104 104 1 43 0 86 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - OBSCN Ala1532Val A1532V not reviewed Insufficiently evaluated not reviewed unknown Array rs453140 2768 10432 0.265337 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - OBSCN Ala1601Thr A1601T not reviewed Insufficiently evaluated not reviewed unknown Array rs55706639 109 10414 0.0104667 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - OBSCN Asp2106Glu D2106E not reviewed Insufficiently evaluated not reviewed unknown Array rs1188721 7825 10594 0.738626 45 0 75 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - OBSCN Phe2116Leu F2116L not reviewed Insufficiently evaluated not reviewed unknown Array rs1188722 7397 10464 0.7069 35 0 53 0 0 - - - - - - - - - - - - - - - - 0.182 - - 0 - 0 N - - OBSCN Ala2150Val A2150V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 2 - 1 N - - OBSCN Arg2529Gln R2529Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3795783 186 10376 0.017926 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - OBSCN Val2720Met V2720M not reviewed Insufficiently evaluated not reviewed unknown Array rs1188697 2995 10104 0.296417 29 0 41 0 0 - - - - - - - - - - - - - - - - 0.839 - - 0 - 0 N - - OBSCN Arg2812Trp R2812W not reviewed Insufficiently evaluated not reviewed unknown Array rs3795785 269 9990 0.0269269 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - OBSCN Gly2813Arg G2813R not reviewed Insufficiently evaluated not reviewed unknown Array 13 9954 0.00130601 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - OBSCN Ala3300Thr A3300T not reviewed Insufficiently evaluated not reviewed unknown Array rs437129 3088 10212 0.302389 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.552 - - 1 - 0 N - - OBSCN Glu3372Asp E3372D not reviewed Insufficiently evaluated not reviewed unknown Array 247 10252 0.0240929 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.632 - - -2 - 1 N - - OBSCN Ser3373Cys S3373C not reviewed Insufficiently evaluated not reviewed unknown Array 241 10250 0.0235122 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 3 - 3 - 6 - - OBSCN Gly4039Arg G4039R not reviewed Insufficiently evaluated not reviewed unknown Array rs435776 3888 10702 0.363297 19 0 26 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 1 N - - OBSCN His4381Arg H4381R not reviewed Insufficiently evaluated not reviewed unknown Array rs1150912 7737 10284 0.752334 41 0 69 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 1 N - - OBSCN Cys4450Arg C4450R not reviewed Insufficiently evaluated not reviewed unknown Array rs1188732 7666 10294 0.744706 49 0 83 0 0 - - - - - - - - - - - - - - - - 0.907 - - 8 Y 1 N - - OBSCN His4489Gln H4489Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61825301 1701 10430 0.163087 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 0 N - - OBSCN Arg4516Trp R4516W not reviewed Insufficiently evaluated not reviewed unknown Array rs11810627 3402 9098 0.373928 24 0 34 0 0 - - - - - - - - - - - - - - - - 0.65 - - 7 Y 0 N - - OBSCN Arg4534His R4534H not reviewed Insufficiently evaluated not reviewed unknown Array rs4653942 2619 10230 0.256012 16 0 22 0 0 - - - - - - - - - - - - - - - - 0.515 - - 1 - 0 N - - OBSCN Ser4642Cys S4642C not reviewed Insufficiently evaluated not reviewed unknown Array rs1188729 7777 10414 0.746783 48 0 83 0 0 - - - - - - - - - - - - - - - - 0.058 - - 3 - 0 N - - OBSCN Arg4662Cys R4662C not reviewed Insufficiently evaluated not reviewed unknown Array rs3795800 189 10502 0.0179966 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.838 - - 8 Y 1 N - - OBSCN Gly4666Ser G4666S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795801 2055 10470 0.196275 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.467 - - 2 - 0 N - - OBSCN Asp4962Gly D4962G not reviewed Insufficiently evaluated not reviewed unknown Array rs373610 7849 10608 0.739913 48 0 79 0 0 - - - - - - - - - - - - - - - - 0.467 - - 4 Y 0 N - - OBSCN Arg5016Gln R5016Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56249237 6 9834 0.000610128 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - OBSCN Leu5269Val L5269V not reviewed Insufficiently evaluated not reviewed unknown Array rs369909 3934 10006 0.393164 29 0 40 0 0 - - - - - - - - - - - - - - - - 0.032 - - 0 - 0 N - - OBSCN Thr5446Ile T5446I not reviewed Insufficiently evaluated not reviewed unknown Array 3 9746 0.000307818 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.247 - - 3 - 1 N - - OBSCN Ile5543Ser I5543S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 5 Y 0 N - - OBSCN Thr5544Ser T5544S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - OBSCN Arg5575His R5575H not reviewed Insufficiently evaluated not reviewed unknown Array rs3795809 1044 10194 0.102413 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.276 - - 1 - 0 N - - OBSCN Arg5693Met R5693M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10204 0.00137201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 4 Y 0 N - - OBSCN Gln5891Glu Q5891E not reviewed Insufficiently evaluated not reviewed unknown Array rs1188710 5445 9934 0.548118 41 0 60 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - OBSCN Arg6535His R6535H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OBSCN Pro6271Ser P6271S not reviewed Insufficiently evaluated not reviewed unknown Array rs35155240 809 9740 0.0830595 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.402 - - 3 - 0 N - - OBSCN Arg6805Trp R6805W not reviewed Insufficiently evaluated not reviewed unknown Array 454 10238 0.0443446 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.65 - - 7 Y 1 N - - OBSCN Phe6825Val F6825V not reviewed Insufficiently evaluated not reviewed unknown Array 75 9868 0.00760032 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - OBSCN Gly7059Ser G7059S not reviewed Insufficiently evaluated not reviewed unknown Array 120 9730 0.012333 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 1 N - - OBSCN Ala7172Val A7172V not reviewed Insufficiently evaluated not reviewed unknown Array rs500049 5676 10230 0.554839 44 0 65 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - OBSCN Arg7417Thr R7417T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 3 - 0 N - - OBSCN Arg7724His R7724H not reviewed Insufficiently evaluated not reviewed unknown Array rs56174824 878 10200 0.0860784 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.515 - - 1 - 0 N - - OBSCN Tyr7735Phe Y7735F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10154 0.00128028 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - -4 - 0 N - - OBSCN Val7807Ile V7807I not reviewed Insufficiently evaluated not reviewed unknown Array 179 10668 0.0167792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - OBSL1 Arg1767Gln R1767Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59332477 4093 9734 0.420485 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OBSL1 Gln1578Arg Q1578R not reviewed Insufficiently evaluated not reviewed unknown Array rs10932814 9875 10266 0.961913 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OBSL1 Glu1365Asp E1365D not reviewed Insufficiently evaluated not reviewed unknown Array rs1983210 7438 10594 0.702096 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OBSL1 Pro860Ser P860S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OBSL1 Arg723Lys R723K not reviewed Insufficiently evaluated not reviewed unknown Array rs1039898 8437 10202 0.826995 54 0 89 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OBSL1 Arg368Cys R368C not reviewed Insufficiently evaluated not reviewed unknown Array rs35009641 381 9936 0.0383454 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OC90 Ser147Gly S147G not reviewed Insufficiently evaluated not reviewed unknown Array rs7386782 7425 10176 0.729658 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - OC90 Asn144Asp N144D not reviewed Insufficiently evaluated not reviewed unknown Array rs7386783 7392 10128 0.729858 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - OCA2 His615Arg H615R benign Low clinical importance, Likely benign other Array rs1800414 7 10758 0.000650678 7 0 11 2 2 2 Y - - 4 Y - - - - - - Y - - - 0.998 Y Y 1 - 5 - 10 0 1 Associated with lighter skin pigmentation in East Asian populations. OCA2 Ala481Thr A481T pathogenic Low clinical importance, Uncertain pathogenic recessive Array 16 10758 0.00148726 2 0 3 5 5 1 Y 1 Y 0 Y 0 Y 3 - 1 - Y Y - - 0.961 Y Y 1 - 6 N 9 0 0 This variant is associated with lower melanin production and may result in less pigmentation in skin or eyes. The variant is suggested to play a role in oculocutaneous albinism when combined with more severe variants, but these findings lack statistical significance. OCA2 Ile370Thr I370T pathogenic Insufficiently evaluated pathogenic recessive Array 45 10758 0.00418293 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.3 Y Y 3 - 4 - 4 - - OCA2 Arg305Trp R305W benign Low clinical importance, Likely benign unknown Array rs1800401 877 10758 0.0815207 6 0 6 2 2 2 Y - - 4 Y - - - - - - Y Y - - 0.961 Y Y 7 Y 5 N 9 0 1 This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). OCA2 Pro241Arg P241R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305253 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 5 Y 2 N - - OCA2 Gly27Arg G27R pathogenic Insufficiently evaluated pathogenic recessive Array 64 10738 0.00596014 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.024 Y Y 6 Y Oculocutaneous Albinism Type 2 1 7 0 100 INF 3 - 7 - - This variant was seen as a compound heterozygote (with S736L) in an Ashkenazi Jewish individual with oculocutaneous albinism type II. The residue is not conserved in mouse. OCEL1 Arg42Leu R42L not reviewed Insufficiently evaluated not reviewed unknown Array rs10425488 657 9160 0.0717249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 6 Y 1 N - - OCEL1 Ala109Gly A109G not reviewed Insufficiently evaluated not reviewed unknown Array rs891203 1772 10758 0.164715 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.289 - - 1 - 0 N - - OCIAD2 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7676916 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 3 - 2 - - OCLN Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array rs28562785 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 1 - 1 - - OCLN Lys504Asn K504N not reviewed Insufficiently evaluated not reviewed unknown Array rs2666626 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - OCLN Gln208Glu Q208E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ODAM Ile222Thr I222T not reviewed Insufficiently evaluated not reviewed unknown Array rs3196714 2738 10752 0.25465 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - ODF1 Ser216Asn S216N not reviewed Insufficiently evaluated not reviewed unknown Array rs2916569 7078 10756 0.658051 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ODF1 Asn225Ser N225S not reviewed Insufficiently evaluated not reviewed unknown Array rs62523272 661 10580 0.0624764 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ODF1 Ser228Asn S228N not reviewed Insufficiently evaluated not reviewed unknown Array rs11992195 439 10730 0.0409133 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ODF1 Phe243Leu F243L not reviewed Insufficiently evaluated not reviewed unknown Array rs11995900 908 10758 0.0844023 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ODF2L Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ODF2L Arg438Cys R438C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ODF2L Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array rs12032435 24 10758 0.0022309 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ODF2L Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ODF3 Val190Met V190M not reviewed Insufficiently evaluated not reviewed unknown Array rs73386625 40 10724 0.00372995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ODF3 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array rs72878024 679 10614 0.0639721 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - ODF3L1 Pro41Leu P41L not reviewed Insufficiently evaluated not reviewed unknown Array rs55905564 2211 10758 0.205521 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - ODF3L1 Thr171Ser T171S not reviewed Insufficiently evaluated not reviewed unknown Array 292 10758 0.0271426 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ODF3L2 Ala273Ser A273S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10696 0.00495512 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - ODF3L2 Ala212Thr A212T not reviewed Insufficiently evaluated not reviewed unknown Array 323 9774 0.0330469 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ODF3L2 Val135Ala V135A not reviewed Insufficiently evaluated not reviewed unknown Array rs34551779 3184 8746 0.364052 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - ODF4 Trp34Arg W34R not reviewed Insufficiently evaluated not reviewed unknown Array rs12943505 2378 10758 0.221045 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 1 N - - ODF4 Arg77Cys R77C not reviewed Insufficiently evaluated not reviewed unknown Array rs73250854 1324 10758 0.123071 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 1 N - - ODF4 Val98Met V98M not reviewed Insufficiently evaluated not reviewed unknown Array rs12601097 6895 10756 0.641038 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ODF4 Tyr139Cys Y139C not reviewed Insufficiently evaluated not reviewed unknown Array rs12936935 6899 10758 0.64129 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ODZ1 Met632Val M632V not reviewed Insufficiently evaluated not reviewed unknown Array rs16999334 461 8761 0.0526196 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.436 - - 0 - 0 N - - ODZ1 Met371Thr M371T not reviewed Insufficiently evaluated not reviewed unknown Array rs2213591 794 8761 0.0906289 10 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ODZ3 Pro1580Ala P1580A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - ODZ3 Val2577Met V2577M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - ODZ4 Gln2667Arg Q2667R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10498 0.0039055 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.506 - - 0 - 1 N - - ODZ4 Asn1689Lys N1689K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 1 - 0 N - - ODZ4 Asn1492Thr N1492T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.886 - - 1 - 2 N - - ODZ4 Ile1361Val I1361V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10318 0.00096918 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - ODZ4 Pro523Arg P523R not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ODZ4 Val396Ile V396I not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 4 - - OFCC1 Thr145Ile T145I not reviewed Insufficiently evaluated not reviewed unknown Array rs9477211 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.774 - - 3 - 1 N - - OFCC1 Ser131Asn S131N not reviewed Insufficiently evaluated not reviewed unknown Array rs56839110 15 128 0.117188 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 0 N - - OFCC1 Lys28Glu K28E not reviewed Insufficiently evaluated not reviewed unknown Array rs73720669 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - OFCC1 Ser21Leu S21L not reviewed Insufficiently evaluated not reviewed unknown Array rs9477310 12 128 0.09375 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.048 - - 6 Y 0 N - - OFD1 Lys422Glu K422E not reviewed Insufficiently evaluated not reviewed unknown Array rs61746932 68 8760 0.00776256 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.741 Y Y 0 - 3 N - - OGDH His3Tyr H3Y not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - -1 - 2 N - - OGDHL Ala731Thr A731T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGDHL Ala883Thr A883T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGDHL Ala940Thr A940T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGDHL Thr428Met T428M not reviewed Insufficiently evaluated not reviewed unknown Array rs11101224 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OGDHL Thr580Met T580M not reviewed Insufficiently evaluated not reviewed unknown Array rs11101224 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OGDHL Thr637Met T637M not reviewed Insufficiently evaluated not reviewed unknown Array rs11101224 2324 10758 0.216025 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OGFOD1 Pro173Ser P173S not reviewed Insufficiently evaluated not reviewed unknown Array rs34883368 380 10758 0.0353226 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - OGFR Gly466Ala G466A not reviewed Insufficiently evaluated not reviewed unknown Array rs56931115 72 10712 0.00672143 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.162 - - 1 - 0 N - - OGFR Ser525Arg S525R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.301 - - 3 - 1 N - - OGFR Glu556Lys E556K not reviewed Insufficiently evaluated not reviewed unknown Array 1267 9218 0.137448 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OGFR Ser557Thr S557T not reviewed Insufficiently evaluated not reviewed unknown Array 1215 9006 0.13491 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OGFR Glu576Lys E576K not reviewed Insufficiently evaluated not reviewed unknown Array rs35813009 1802 8256 0.218266 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OGFR Ser577Thr S577T not reviewed Insufficiently evaluated not reviewed unknown Array rs6122315 2720 8496 0.320151 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OGFR Ser585Arg S585R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10030 0.00109671 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OGFRL1 Ser47Pro S47P not reviewed Insufficiently evaluated not reviewed unknown Array 696 6880 0.101163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OGFRL1 Val448Glu V448E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OGG1 Gly308Glu G308E not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 3 - 4 - - OGG1 Pro332Ala P332A not reviewed Insufficiently evaluated not reviewed unknown Array rs1052133 2310 10758 0.214724 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OGG1 Ser326Cys S326C not reviewed Insufficiently evaluated not reviewed unknown Array rs1052133 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - OIP5 Ala61Pro A61P not reviewed Insufficiently evaluated not reviewed unknown Array rs35123814 134 10650 0.0125822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - OLA1 Tyr254Cys Y254C not reviewed Insufficiently evaluated not reviewed unknown Array rs11558990 1796 10756 0.166977 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - OLA1 Tyr96Cys Y96C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OLAH Pro80Ser P80S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OLAH Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - OLAH Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OLFM2 Thr127Met T127M not reviewed Insufficiently evaluated not reviewed unknown Array rs11556087 1896 10758 0.176241 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - OLFM2 Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2303100 4384 10758 0.407511 22 0 28 0 0 - - - - - - - - - - - - - - - - 0.583 - - 0 - 0 N - - OLFM4 Ser36Pro S36P not reviewed Insufficiently evaluated not reviewed unknown Array rs35790097 1179 10758 0.109593 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OLFM4 Asn336Thr N336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OLFML1 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - OLFML1 Glu113Val E113V not reviewed Insufficiently evaluated not reviewed unknown Array rs12805648 1713 10758 0.15923 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OLFML1 Ala259Thr A259T not reviewed Insufficiently evaluated not reviewed unknown Array rs12803046 254 10758 0.0236103 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - OLFML2A Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10180 0.00127701 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OLFML2A Thr309Ala T309A not reviewed Insufficiently evaluated not reviewed unknown Array rs7874348 7839 10758 0.728667 51 0 83 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OLFML2A Ala365Gly A365G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OLFML2A Ala393Val A393V not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - OLFML2A Asp539Asn D539N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.361 - - -1 - 1 N - - OLFML2B Trp470Arg W470R not reviewed Insufficiently evaluated not reviewed unknown Array rs2499836 7084 10758 0.658487 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OLFML2B Pro289Leu P289L not reviewed Insufficiently evaluated not reviewed unknown Array rs4656343 455 10758 0.0422941 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - OLFML2B Tyr10Cys Y10C not reviewed Insufficiently evaluated not reviewed unknown Array rs12130792 1089 10758 0.101227 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OLIG1 Ser45Thr S45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.579 - - -2 - 1 N - - OLIG3 Ser267Pro S267P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10002 0.00019996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - OLIG3 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OLR1 Lys167Asn K167N not reviewed Insufficiently evaluated not reviewed unknown Array rs11053646 1442 10758 0.13404 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.301 - - 1 - 0 N - - OMA1 Asp365Tyr D365Y not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OMA1 Ile329Leu I329L not reviewed Insufficiently evaluated not reviewed unknown Array rs17117678 1389 10758 0.129113 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.19 - - -2 - 0 N - - OMA1 Phe211Cys F211C not reviewed Insufficiently evaluated not reviewed unknown Array rs17117699 120 10758 0.0111545 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.989 - - 4 Y 2 N - - OMA1 Pro117Leu P117L not reviewed Insufficiently evaluated not reviewed unknown Array rs17117720 91 10758 0.00845882 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - OMA1 Asn67Lys N67K not reviewed Insufficiently evaluated not reviewed unknown Array rs34466938 347 10758 0.0322551 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 2 N - - OMD Ser221Asn S221N not reviewed Insufficiently evaluated not reviewed unknown Array rs34860658 386 10758 0.0358803 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OMG Val435Ala V435A not reviewed Insufficiently evaluated not reviewed unknown Array rs16972169 108 10758 0.010039 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - OMG Gly21Asp G21D not reviewed Insufficiently evaluated not reviewed unknown Array rs11080149 944 10758 0.0877487 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.101 - - 4 Y 0 N - - OOEP Val92Ala V92A not reviewed Insufficiently evaluated not reviewed unknown Array rs496530 4854 9932 0.488723 46 0 62 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OOEP Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array rs2280286 330 10550 0.0312796 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - OPA1 Val109Gly V109G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 8 Y 4 N - - OPA1 Ser158Asn S158N not reviewed Insufficiently evaluated not reviewed unknown Array rs7624750 5338 10754 0.496373 39 0 55 0 0 3 Y - - - - - - - - - - Y - - - 0.002 Y Y 0 - 3 - 4 - - OPALIN Asp44Tyr D44Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OPALIN Asp57Tyr D57Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OPALIN Asp67Tyr D67Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.201 - - 7 Y 1 N - - OPHN1 Val39Ile V39I not reviewed Insufficiently evaluated not reviewed unknown Array rs41303733 499 8761 0.056957 6 0 9 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - -4 - 2 - 3 - - OPLAH Ser284Arg S284R not reviewed Insufficiently evaluated not reviewed unknown Array rs3935209 1974 9850 0.200406 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OPLAH Gly148Ala G148A not reviewed Insufficiently evaluated not reviewed unknown Array 22 10082 0.00218211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OPN1LW Ile111Val I111V not reviewed Insufficiently evaluated not reviewed unknown Array 770 8671 0.0888017 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - OPN1LW Leu153Met L153M not reviewed Insufficiently evaluated not reviewed unknown Array rs713 97 8030 0.0120797 9 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - OPN1LW Val171Met V171M not reviewed Insufficiently evaluated not reviewed unknown Array 1317 8439 0.156061 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - OPN1LW Ser180Ala S180A not reviewed Insufficiently evaluated not reviewed unknown Array rs949431 1064 8418 0.126396 5 0 10 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 3 - 4 - - OPN1LW Met236Val M236V not reviewed Insufficiently evaluated not reviewed unknown Array rs1065426 1713 8704 0.196806 8 0 13 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - OPN1MW Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array 771 2283 0.337714 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - OPN1MW Ile178Val I178V not reviewed Insufficiently evaluated not reviewed unknown Array 560 1889 0.296453 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - OPN1MW2 Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OPN1MW2 Ile178Val I178V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OPN1SW Arg61Cys R61C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - OPN3 Met256Ile M256I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - OPN3 Val183Ile V183I not reviewed Insufficiently evaluated not reviewed unknown Array rs2273712 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OPN4 Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array rs2675703 1096 10758 0.101878 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.894 - - 7 Y 1 N - - OPN4 Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array 544 10758 0.050567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OPN4 Thr394Ile T394I not reviewed Insufficiently evaluated not reviewed unknown Array rs1079610 92 128 0.71875 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OPN4 Thr405Ile T405I not reviewed Insufficiently evaluated not reviewed unknown Array rs1079610 7396 10728 0.689411 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OPRD1 Cys27Phe C27F not reviewed Insufficiently evaluated not reviewed unknown Array rs1042114 8471 9230 0.917768 13 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OPRL1 Val230Ile V230I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OPRM1 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - OPRM1 Gln57Stop Q57X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OPRM1 Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array rs1799972 716 10242 0.0699082 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OPRM1 Ala99Val A99V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OPRM1 Asn133Asp N133D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - -1 - 2 N - - OPRM1 Asn40Asp N40D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799971 957 10018 0.0955281 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - Better clinical outcome with ethanol and naltrexone. OPRM1 Val175Met V175M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OPRM1 Val82Met V82M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OPRM1 Ser147Cys S147C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10492 0.00543271 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPRM1 Ser240Cys S240C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPRM1 Ser47Cys S47C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPRM1 Ser66Cys S66C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPRM1 Gln402His Q402H not reviewed Insufficiently evaluated not reviewed unknown Array rs540825 8174 9966 0.820189 55 0 97 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OPRM1 Gln411Stop Q411X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 2 N - - OPTC Glu171Lys E171K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OPTC Leu268Pro L268P not reviewed Insufficiently evaluated not reviewed unknown Array 811 10758 0.0753858 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OPTN Lys322Glu K322E not reviewed Insufficiently evaluated not reviewed unknown Array rs523747 10662 10758 0.991076 56 0 111 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 5 - - OPTN Arg545Gln R545Q benign Low clinical importance, Uncertain benign dominant Array rs28939689 3 10756 0.000278914 1 0 1 5 5 0 Y 0 - - - 0 - 0 Y - - Y Y - - 0.003 Y - 0 - 3 N 9 0 0 Originally, the variant was believed to be associated with adult-onset primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) after it was found in three individuals in a 2002 study. An additional study in 2005 observed the variant in 6 POAG patients. Further investigation, however, has found the variant to be a non-disease causing polymorphism. OR10A2 His43Arg H43R not reviewed Insufficiently evaluated not reviewed unknown Array rs3930075 3436 10758 0.31939 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.107 - - 1 - 0 N - - OR10A2 Ala134Thr A134T not reviewed Insufficiently evaluated not reviewed unknown Array rs2741764 2828 10758 0.262874 20 0 26 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - OR10A2 His207Arg H207R not reviewed Insufficiently evaluated not reviewed unknown Array rs10839631 3432 10758 0.319018 24 0 26 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR10A2 Ile240Thr I240T not reviewed Insufficiently evaluated not reviewed unknown Array rs10839632 2847 10758 0.26464 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR10A2 Lys258Thr K258T not reviewed Insufficiently evaluated not reviewed unknown Array rs7926083 3433 10758 0.319111 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 1 N - - OR10A3 Trp162Ser W162S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR10A3 Tyr132His Y132H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - OR10A3 Phe20Val F20V not reviewed Insufficiently evaluated not reviewed unknown Array rs16934214 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.616 - - 3 - 1 N - - OR10A4 Leu206Pro L206P not reviewed Insufficiently evaluated not reviewed unknown Array rs2595453 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.858 - - 7 Y 3 - 7 - - OR10A4 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array rs7938371 25 128 0.195312 18 0 25 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - OR10A4 Leu246Phe L246F not reviewed Insufficiently evaluated not reviewed unknown Array rs16919049 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.3 - - 0 - 0 N - - OR10A4 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10839635 37 126 0.293651 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.815 - - 0 - 0 N - - OR10A5 Phe29Ser F29S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - OR10A5 Lys41Met K41M not reviewed Insufficiently evaluated not reviewed unknown Array rs7949377 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR10A5 Thr241Met T241M not reviewed Insufficiently evaluated not reviewed unknown Array rs60000441 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - OR10A6 Leu287Pro L287P not reviewed Insufficiently evaluated not reviewed unknown Array rs4758258 104 126 0.825397 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR10A6 Phe168Ser F168S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.953 - - 5 Y 2 N - - OR10A6 Val140Gly V140G not reviewed Insufficiently evaluated not reviewed unknown Array rs7933807 53 126 0.420635 30 0 40 0 0 - - - - - - - - - - - - - - - - 0.954 - - 8 Y 1 N - - OR10A6 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array rs7928451 53 128 0.414062 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10AD1 Tyr279His Y279H not reviewed Insufficiently evaluated not reviewed unknown Array rs11168459 2470 10758 0.229597 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 1 N - - OR10AD1 Trp198Arg W198R not reviewed Insufficiently evaluated not reviewed unknown Array 848 10758 0.0788251 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR10AD1 Ser177Asn S177N not reviewed Insufficiently evaluated not reviewed unknown Array 845 10758 0.0785462 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR10AD1 Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17224674 652 10758 0.0606061 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.324 - - 0 - 0 N - - OR10AD1 Thr9Pro T9P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 4 Y 1 N - - OR10AD1 Val8Ala V8A not reviewed Insufficiently evaluated not reviewed unknown Array rs17122812 1797 10758 0.167038 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.529 - - 2 - 0 N - - OR10AG1 Thr141Ile T141I not reviewed Insufficiently evaluated not reviewed unknown Array rs61896165 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR10AG1 Met97Ile M97I not reviewed Insufficiently evaluated not reviewed unknown Array rs61896167 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - OR10AG1 Met31Thr M31T not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - OR10AG1 Met28Thr M28T not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10C1 Gln55Stop Q55X not reviewed Insufficiently evaluated not reviewed unknown Array rs17184009 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR10C1 Phe60Leu F60L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074469 16 128 0.125 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - OR10C1 Arg89Ser R89S not reviewed Insufficiently evaluated not reviewed unknown Array rs11755182 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.714 - - 3 - 0 N - - OR10C1 Met100Val M100V not reviewed Insufficiently evaluated not reviewed unknown Array rs17177632 11 128 0.0859375 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - OR10C1 Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array rs17177639 6 124 0.0483871 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 6 - - OR10C1 Arg138Trp R138W not reviewed Insufficiently evaluated not reviewed unknown Array rs17177646 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 3 - 4 - - OR10C1 Gly145Arg G145R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - OR10C1 Pro160Ser P160S not reviewed Insufficiently evaluated not reviewed unknown Array rs2074468 20 128 0.15625 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR10C1 Pro174Gln P174Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2074466 12 128 0.09375 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - OR10C1 Met246Val M246V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074464 71 128 0.554688 37 0 52 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR10C1 Met246Leu M246L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074464 11 128 0.0859375 4 0 7 0 0 - - - - - - - - - - - - - - - - 0.361 - - -3 - 0 N - - OR10C1 Met310Arg M310R not reviewed Insufficiently evaluated not reviewed unknown Array rs11968123 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - OR10G2 Ala277Val A277V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10G2 Arg209Gly R209G not reviewed Insufficiently evaluated not reviewed unknown Array rs12894405 54 122 0.442623 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR10G2 Arg187Pro R187P not reviewed Insufficiently evaluated not reviewed unknown Array rs35963889 44 126 0.349206 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR10G2 His136Arg H136R not reviewed Insufficiently evaluated not reviewed unknown Array rs10138694 50 114 0.438596 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR10G2 Arg85Leu R85L not reviewed Insufficiently evaluated not reviewed unknown Array rs41314525 27 128 0.210938 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - OR10G2 Leu67Phe L67F not reviewed Insufficiently evaluated not reviewed unknown Array rs10146821 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR10G2 Pro57Leu P57L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - OR10G3 Val251Met V251M not reviewed Insufficiently evaluated not reviewed unknown Array rs34162196 5 128 0.0390625 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.349 - - 0 - 1 N - - OR10G3 Ser73Gly S73G not reviewed Insufficiently evaluated not reviewed unknown Array rs17792778 93 128 0.726562 51 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10G3 Val49Leu V49L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - 0 - 2 - 1 - - OR10G4 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array rs11219407 43 120 0.358333 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10G4 Leu24Pro L24P not reviewed Insufficiently evaluated not reviewed unknown Array rs547068 18 104 0.173077 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR10G4 Met134Val M134V not reviewed Insufficiently evaluated not reviewed unknown Array rs1893766 42 110 0.381818 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - OR10G4 Gly146Ser G146S not reviewed Insufficiently evaluated not reviewed unknown Array rs503223 7 72 0.0972222 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10G4 Val195Glu V195E not reviewed Insufficiently evaluated not reviewed unknown Array rs4084209 80 116 0.689655 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR10G4 Arg235Gly R235G not reviewed Insufficiently evaluated not reviewed unknown Array rs4936880 51 120 0.425 35 0 45 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 1 N - - OR10G4 Lys295Gln K295Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4936881 54 128 0.421875 38 0 48 0 0 - - - - - - - - - - - - - - - - 0.119 - - -2 - 0 N - - OR10G7 Leu204Ile L204I not reviewed Insufficiently evaluated not reviewed unknown Array rs59358830 207 10756 0.0192451 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR10G7 Gln172Arg Q172R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - OR10G7 Thr136Ser T136S not reviewed Insufficiently evaluated not reviewed unknown Array rs513591 388 10756 0.0360729 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR10G7 Asn133Ser N133S not reviewed Insufficiently evaluated not reviewed unknown Array rs472442 392 10756 0.0364448 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10G7 Thr90Ala T90A not reviewed Insufficiently evaluated not reviewed unknown Array rs470208 5 10756 0.000464856 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10G7 Ile28Val I28V not reviewed Insufficiently evaluated not reviewed unknown Array rs11219420 3398 10754 0.315975 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR10G7 Gly20Ala G20A not reviewed Insufficiently evaluated not reviewed unknown Array rs3894199 1942 10756 0.18055 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR10G7 Pro19Gln P19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4998340 1640 10756 0.152473 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.033 - - 4 Y 0 N - - OR10G7 Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array rs3894198 2005 10756 0.186408 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 4 - - OR10G7 Thr13Met T13M not reviewed Insufficiently evaluated not reviewed unknown Array rs11827843 653 10756 0.0607103 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 4 - - OR10G7 Thr5Ser T5S not reviewed Insufficiently evaluated not reviewed unknown Array rs3894197 7066 10756 0.656936 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR10G8 Tyr122Cys Y122C not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - OR10G8 Cys140Tyr C140Y not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR10G8 Thr196Ile T196I not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR10G9 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 12 98 0.122449 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10G9 Ile28Val I28V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR10G9 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array rs28734900 22 120 0.183333 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR10G9 Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array rs11535718 27 120 0.225 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR10G9 Met134Val M134V not reviewed Insufficiently evaluated not reviewed unknown Array rs12366219 27 120 0.225 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.165 - - 0 - 0 N - - OR10G9 Gln172Arg Q172R not reviewed Insufficiently evaluated not reviewed unknown Array rs11219413 33 124 0.266129 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR10G9 Tyr176Cys Y176C not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - OR10G9 Val200Leu V200L not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - OR10G9 Ile202Phe I202F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.277 - - 2 - 1 N - - OR10G9 Leu204Val L204V not reviewed Insufficiently evaluated not reviewed unknown Array 6 80 0.075 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR10G9 His228Arg H228R not reviewed Insufficiently evaluated not reviewed unknown Array rs12221656 28 108 0.259259 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR10H1 Cys204Gly C204G not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR10H1 Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745313 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10H1 Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array rs4808382 217 10752 0.0201823 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10H1 Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array rs4808383 1890 10758 0.175683 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 0 N - - OR10H2 Leu40Gln L40Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4569397 3515 10754 0.326855 25 0 37 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - OR10H2 Arg131Cys R131C not reviewed Insufficiently evaluated not reviewed unknown Array rs61731561 420 10758 0.0390407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 8 Y 0 N - - OR10H2 Ser171Phe S171F not reviewed Insufficiently evaluated not reviewed unknown Array rs1806931 503 10758 0.0467559 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 1 N - - OR10H2 Val200Leu V200L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - OR10H2 Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733113 419 10758 0.0389478 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.817 - - -4 - 1 N - - OR10H3 Arg7Ser R7S not reviewed Insufficiently evaluated not reviewed unknown Array rs1966357 92 128 0.71875 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR10H3 Leu14Ile L14I not reviewed Insufficiently evaluated not reviewed unknown Array rs2240227 14 128 0.109375 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 1 N - - OR10H3 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array rs11670007 42 128 0.328125 24 0 36 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR10H3 Val224Met V224M not reviewed Insufficiently evaluated not reviewed unknown Array rs2240228 23 128 0.179688 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR10H3 Ser293Asn S293N not reviewed Insufficiently evaluated not reviewed unknown Array rs2240229 22 128 0.171875 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 1 N - - OR10H4 Asn100Lys N100K not reviewed Insufficiently evaluated not reviewed unknown Array rs16980994 43 128 0.335938 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - OR10H4 His144Arg H144R not reviewed Insufficiently evaluated not reviewed unknown Array rs16980822 43 128 0.335938 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - OR10H4 Arg236Trp R236W not reviewed Insufficiently evaluated not reviewed unknown Array rs61732447 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR10H4 Thr281Ala T281A not reviewed Insufficiently evaluated not reviewed unknown Array rs11880184 43 128 0.335938 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.715 - - 1 - 0 N - - OR10H5 Gly140Ser G140S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754880 1 116 0.00862069 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - OR10H5 Arg144Leu R144L not reviewed Insufficiently evaluated not reviewed unknown Array rs61754873 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR10H5 Ala224Asp A224D not reviewed Insufficiently evaluated not reviewed unknown Array rs61745514 3 80 0.0375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.157 - - 5 Y 0 N - - OR10H5 Ser268Tyr S268Y not reviewed Insufficiently evaluated not reviewed unknown Array rs67455341 20 42 0.47619 11 0 16 0 0 - - - - - - - - - - - - - - - - 0.547 - - 5 Y 0 N - - OR10J1 Met62Ile M62I not reviewed Insufficiently evaluated not reviewed unknown Array rs10908722 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - OR10J1 Ile103Met I103M not reviewed Insufficiently evaluated not reviewed unknown Array rs12048482 69 128 0.539062 41 0 57 0 0 - - - - - - - - - - - - - - - - 0.971 - - -1 - 1 N - - OR10J1 Met112Ile M112I not reviewed Insufficiently evaluated not reviewed unknown Array rs12118628 13 128 0.101562 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.851 - - -1 - 1 N - - OR10J1 Thr121Ile T121I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - OR10J1 Cys264Stop C264X not reviewed Insufficiently evaluated not reviewed unknown Array rs12409540 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR10J3 Glu319Gly E319G not reviewed Insufficiently evaluated not reviewed unknown Array rs58037016 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - OR10J3 Gly270Arg G270R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - OR10J3 Gln235Arg Q235R not reviewed Insufficiently evaluated not reviewed unknown Array rs11265165 29 128 0.226562 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR10J3 Ile222Met I222M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - OR10J5 Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array rs35393723 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - OR10J5 Tyr199Phe Y199F not reviewed Insufficiently evaluated not reviewed unknown Array rs56786307 4 128 0.03125 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR10K1 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OR10K1 Gly193Ser G193S not reviewed Insufficiently evaluated not reviewed unknown Array rs41273489 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10K2 Pro210Arg P210R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - OR10K2 Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array rs12240099 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10K2 Asp180Asn D180N not reviewed Insufficiently evaluated not reviewed unknown Array rs73019729 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - OR10K2 Gly143Val G143V not reviewed Insufficiently evaluated not reviewed unknown Array rs73019731 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - 8 Y 0 N - - OR10K2 Leu39Arg L39R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - OR10P1 Pro88Leu P88L not reviewed Insufficiently evaluated not reviewed unknown Array rs10876838 39 128 0.304688 23 0 30 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - OR10P1 Val200Met V200M not reviewed Insufficiently evaluated not reviewed unknown Array rs7970885 38 128 0.296875 23 0 30 0 0 - - - - - - - - - - - - - - - - 0.747 - - 0 - 0 N - - OR10P1 Ile215Phe I215F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - OR10Q1 Arg191Cys R191C not reviewed Insufficiently evaluated not reviewed unknown Array rs11229301 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 1 N - - OR10Q1 Glu12Asp E12D not reviewed Insufficiently evaluated not reviewed unknown Array rs4245219 119 128 0.929688 52 0 97 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR10R2 Met28Val M28V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739693 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.861 - - 0 - 3 - 1 - - OR10R2 Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array rs3820678 27 128 0.210938 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - OR10R2 Glu216Gly E216G not reviewed Insufficiently evaluated not reviewed unknown Array rs6679056 70 128 0.546875 46 0 63 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 1 N - - OR10R2 Leu239Phe L239F not reviewed Insufficiently evaluated not reviewed unknown Array rs1418843 63 128 0.492188 43 0 58 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - OR10R2 Ala262Thr A262T not reviewed Insufficiently evaluated not reviewed unknown Array rs62642485 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.94 - - 1 - 2 N - - OR10R2 Thr299Met T299M not reviewed Insufficiently evaluated not reviewed unknown Array rs62642486 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - OR10S1 Val309Ala V309A not reviewed Insufficiently evaluated not reviewed unknown Array rs55944888 1477 10758 0.137293 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 1 N - - OR10S1 Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array rs17759447 127 10758 0.0118052 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10S1 Lys93Arg K93R not reviewed Insufficiently evaluated not reviewed unknown Array rs17686210 2452 10758 0.227923 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.05 - - -3 - 0 N - - OR10S1 Gly63Ser G63S not reviewed Insufficiently evaluated not reviewed unknown Array rs17759513 2382 10758 0.221417 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - OR10T2 Val239Ala V239A not reviewed Insufficiently evaluated not reviewed unknown Array rs34465440 41 128 0.320312 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10T2 Ile137Met I137M not reviewed Insufficiently evaluated not reviewed unknown Array rs6662382 39 128 0.304688 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR10T2 Cys98Tyr C98Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61818749 12 128 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - OR10T2 Phe95Leu F95L not reviewed Insufficiently evaluated not reviewed unknown Array rs61818750 12 128 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 0 N - - OR10T2 Phe65Leu F65L not reviewed Insufficiently evaluated not reviewed unknown Array rs41488350 12 128 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 0 N - - OR10V1 Gln123Arg Q123R not reviewed Insufficiently evaluated not reviewed unknown Array rs499033 10087 10758 0.937628 50 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR10V1 Val117Ala V117A not reviewed Insufficiently evaluated not reviewed unknown Array rs472177 1918 10758 0.178286 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10W1 Arg263Gln R263Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10792156 4730 10758 0.439673 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR10W1 Cys245Ser C245S not reviewed Insufficiently evaluated not reviewed unknown Array rs56302613 566 10758 0.052612 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.965 - - 3 - 1 N - - OR10W1 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7111538 567 10758 0.052705 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 0 N - - OR10X1 Ile301Thr I301T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - OR10X1 Val263Met V263M not reviewed Insufficiently evaluated not reviewed unknown Array rs73016227 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - OR10X1 Thr90Met T90M not reviewed Insufficiently evaluated not reviewed unknown Array rs863361 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - OR10X1 Trp66Stop W66X not reviewed Insufficiently evaluated not reviewed unknown Array rs863362 74 128 0.578125 45 0 63 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR10X1 Ile60Thr I60T not reviewed Insufficiently evaluated not reviewed unknown Array rs863363 75 128 0.585938 46 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR10Z1 Leu82Phe L82F not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - OR10Z1 Met276Thr M276T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - OR10Z1 Asn294Thr N294T not reviewed Insufficiently evaluated not reviewed unknown Array rs857685 30 128 0.234375 21 0 26 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - OR11A1 Ala165Thr A165T not reviewed Insufficiently evaluated not reviewed unknown Array rs9257857 879 7518 0.116919 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR11A1 Met80Thr M80T not reviewed Insufficiently evaluated not reviewed unknown Array rs61978565 399 7520 0.0530585 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.248 - - 2 - 0 N - - OR11G2 Ile99Asn I99N not reviewed Insufficiently evaluated not reviewed unknown Array rs4981822 60 128 0.46875 38 0 45 0 0 - - - - - - - - - - - - - - - - 0.635 - - 7 Y 0 N - - OR11G2 Val116Ile V116I not reviewed Insufficiently evaluated not reviewed unknown Array rs4981088 61 128 0.476562 38 0 46 0 0 - - - - - - - - - - - - - - - - 0.058 - - -4 - 0 N - - OR11G2 Gln138Lys Q138K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -2 - 2 N - - OR11G2 Gly230Ser G230S not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR11H1 Val263Leu V263L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - OR11H1 Val262Leu V262L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 0 - 0 N - - OR11H1 Ala252Val A252V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - OR11H12 Phe27Leu F27L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - OR11H12 Arg143Leu R143L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.179 - - 6 Y 0 N - - OR11H12 Tyr233Stop Y233X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR11H4 Thr301Ser T301S not reviewed Insufficiently evaluated not reviewed unknown Array rs17277270 13 128 0.101562 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR11H6 Ser7Tyr S7Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10140652 12 128 0.09375 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - OR11H6 Leu32Val L32V not reviewed Insufficiently evaluated not reviewed unknown Array rs9323693 12 128 0.09375 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - OR11H6 Ile107Thr I107T not reviewed Insufficiently evaluated not reviewed unknown Array rs12891553 55 128 0.429688 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR11H6 Arg146His R146H not reviewed Insufficiently evaluated not reviewed unknown Array rs17106351 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - OR11H6 Leu195Phe L195F not reviewed Insufficiently evaluated not reviewed unknown Array rs17211285 55 128 0.429688 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR11H6 Tyr236His Y236H not reviewed Insufficiently evaluated not reviewed unknown Array rs17277221 55 128 0.429688 37 0 49 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 1 N - - OR11H6 Val243Leu V243L not reviewed Insufficiently evaluated not reviewed unknown Array rs61993884 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 1 N - - OR11H6 Cys259Arg C259R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277228 55 128 0.429688 37 0 49 0 0 - - - - - - - - - - - - - - - - 0.975 - - 8 Y 1 N - - OR11L1 Arg171Pro R171P not reviewed Insufficiently evaluated not reviewed unknown Array rs10888255 8917 10758 0.828872 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR11L1 Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array rs10888256 9118 10758 0.847555 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR11L1 Phe117Leu F117L not reviewed Insufficiently evaluated not reviewed unknown Array rs4607924 9116 10758 0.847369 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR11L1 Gly108Ser G108S not reviewed Insufficiently evaluated not reviewed unknown Array rs10888257 8918 10758 0.828964 54 0 99 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - OR12D2 Leu11Pro L11P not reviewed Insufficiently evaluated not reviewed unknown Array 6 7522 0.00079766 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR12D2 Val47Phe V47F not reviewed Insufficiently evaluated not reviewed unknown Array rs9257834 2697 7522 0.358548 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR12D2 Leu56Pro L56P not reviewed Insufficiently evaluated not reviewed unknown Array rs4987411 2678 7522 0.356022 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR12D2 Cys70Tyr C70Y not reviewed Insufficiently evaluated not reviewed unknown Array rs36210740 28 7518 0.00372439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR12D2 Ser104Phe S104F not reviewed Insufficiently evaluated not reviewed unknown Array rs3128853 7302 7520 0.971011 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR12D2 Phe113Leu F113L not reviewed Insufficiently evaluated not reviewed unknown Array rs2073154 2695 7518 0.358473 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR12D2 Leu120Arg L120R not reviewed Insufficiently evaluated not reviewed unknown Array rs2073153 2696 7522 0.358415 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR12D2 Ser121Cys S121C not reviewed Insufficiently evaluated not reviewed unknown Array rs2073152 1715 7522 0.227998 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR12D2 Val132Gly V132G not reviewed Insufficiently evaluated not reviewed unknown Array rs11752608 42 7520 0.00558511 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - OR12D2 Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array rs2073151 2700 7524 0.358852 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR12D2 Ser242Pro S242P not reviewed Insufficiently evaluated not reviewed unknown Array rs61742210 70 7522 0.00930604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR12D3 Tyr277His Y277H not reviewed Insufficiently evaluated not reviewed unknown Array rs9380122 507 7522 0.0674023 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.204 - - -1 - 0 N - - OR12D3 Thr97Ile T97I not reviewed Insufficiently evaluated not reviewed unknown Array rs3749971 494 7518 0.065709 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.056 - - 3 - 0 N - - OR13A1 Ala318Val A318V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 2 - 1 N - - OR13A1 Ile226Val I226V not reviewed Insufficiently evaluated not reviewed unknown Array rs73281136 183 10758 0.0170106 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR13C2 Lys301Glu K301E not reviewed Insufficiently evaluated not reviewed unknown Array rs10156474 54 128 0.421875 30 0 45 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 0 N - - OR13C2 Ser160Thr S160T not reviewed Insufficiently evaluated not reviewed unknown Array rs1851716 41 102 0.401961 23 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR13C2 Leu23His L23H not reviewed Insufficiently evaluated not reviewed unknown Array rs10991326 8 72 0.111111 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.813 - - 6 Y 0 N - - OR13C2 Ser18Phe S18F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 5 Y 1 N - - OR13C3 Met258Thr M258T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.083 - - 2 - 0 N - - OR13C3 Gly32Cys G32C not reviewed Insufficiently evaluated not reviewed unknown Array rs41304943 1183 10756 0.109985 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.015 - - 7 Y 0 N - - OR13C5 His309Pro H309P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 5 Y 3 - 1 - - OR13C5 Met290Thr M290T not reviewed Insufficiently evaluated not reviewed unknown Array rs1851725 53 128 0.414062 30 0 44 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - OR13C5 Ile282Val I282V not reviewed Insufficiently evaluated not reviewed unknown Array rs1523678 53 128 0.414062 30 0 45 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR13C5 Pro262Leu P262L not reviewed Insufficiently evaluated not reviewed unknown Array rs7852858 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 2 - - OR13C5 Met258Thr M258T not reviewed Insufficiently evaluated not reviewed unknown Array rs1851724 71 128 0.554688 38 0 61 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - OR13C5 Ser229Thr S229T not reviewed Insufficiently evaluated not reviewed unknown Array rs73508187 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 0 N - - OR13C5 Asn195Ser N195S not reviewed Insufficiently evaluated not reviewed unknown Array rs6479259 18 128 0.140625 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 1 N - - OR13C5 Cys189Tyr C189Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4117966 42 124 0.33871 26 0 34 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - OR13C5 Asn128Ser N128S not reviewed Insufficiently evaluated not reviewed unknown Array rs1851723 14 120 0.116667 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 0 N - - OR13C5 Val117Met V117M not reviewed Insufficiently evaluated not reviewed unknown Array rs2417534 50 122 0.409836 27 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR13C5 Leu86Val L86V not reviewed Insufficiently evaluated not reviewed unknown Array rs4629933 69 128 0.539062 35 0 56 0 0 - - - - - - - - - - - - - - - - 0.752 - - 0 - 0 N - - OR13C5 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array rs7025570 69 128 0.539062 35 0 56 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - OR13C5 Leu69Met L69M not reviewed Insufficiently evaluated not reviewed unknown Array rs57169158 41 84 0.488095 21 0 37 0 0 - - - - - - - - - - - - - - - - 0.618 - - -3 - 0 N - - OR13C5 Phe32Leu F32L not reviewed Insufficiently evaluated not reviewed unknown Array rs6479260 7 66 0.106061 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR13C5 Ser18Phe S18F not reviewed Insufficiently evaluated not reviewed unknown Array rs1851722 14 118 0.118644 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - OR13C8 Ala19Asp A19D not reviewed Insufficiently evaluated not reviewed unknown Array rs7026705 70 128 0.546875 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR13C9 Phe197Leu F197L not reviewed Insufficiently evaluated not reviewed unknown Array rs10761054 15 128 0.117188 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 1 N - - OR13C9 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - OR13C9 Thr91Ser T91S not reviewed Insufficiently evaluated not reviewed unknown Array rs993658 40 126 0.31746 24 0 31 0 0 - - - - - - - - - - - - - - - - 0.865 - - -2 - 1 N - - OR13C9 Val36Ala V36A not reviewed Insufficiently evaluated not reviewed unknown Array rs61322228 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR13C9 Glu24Asp E24D not reviewed Insufficiently evaluated not reviewed unknown Array rs2900373 52 128 0.40625 30 0 43 0 0 - - - - - - - - - - - - - - - - 0.502 - - -2 - 0 N - - OR13D1 Phe21Leu F21L not reviewed Insufficiently evaluated not reviewed unknown Array rs10991359 18 128 0.140625 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR13D1 Val47Met V47M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR13D1 Leu64Val L64V not reviewed Insufficiently evaluated not reviewed unknown Array rs13294411 7 126 0.0555556 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 - 4 - - OR13D1 Gln191His Q191H not reviewed Insufficiently evaluated not reviewed unknown Array rs10820709 57 128 0.445312 39 0 51 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 1 N - - OR13D1 Ser277Leu S277L not reviewed Insufficiently evaluated not reviewed unknown Array rs10761073 86 128 0.671875 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR13D1 Val279Leu V279L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - OR13F1 Phe18Ser F18S not reviewed Insufficiently evaluated not reviewed unknown Array rs7049042 108 128 0.84375 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR13F1 Met101Val M101V not reviewed Insufficiently evaluated not reviewed unknown Array rs1403812 108 128 0.84375 51 0 90 0 0 - - - - - - - - - - - - - - - - 0.927 - - 0 - 1 N - - OR13F1 Val134Ile V134I not reviewed Insufficiently evaluated not reviewed unknown Array rs1403811 108 128 0.84375 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR13F1 Thr254Met T254M not reviewed Insufficiently evaluated not reviewed unknown Array rs7030820 77 126 0.611111 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.328 - - 2 - 0 N - - OR13F1 Ile270Thr I270T not reviewed Insufficiently evaluated not reviewed unknown Array rs7847413 26 128 0.203125 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.093 - - 3 - 0 N - - OR13F1 Ile270Met I270M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.786 - - -1 - 1 N - - OR13G1 Lys231Asn K231N not reviewed Insufficiently evaluated not reviewed unknown Array rs61995673 128 10758 0.0118981 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - OR13G1 Arg224Cys R224C not reviewed Insufficiently evaluated not reviewed unknown Array rs28446289 3651 10758 0.339375 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.772 - - 8 Y 0 N - - OR13G1 Met146Leu M146L not reviewed Insufficiently evaluated not reviewed unknown Array rs28556931 3661 10758 0.340305 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.974 - - -3 - 1 N - - OR13G1 Ile132Val I132V not reviewed Insufficiently evaluated not reviewed unknown Array rs1151640 3607 10758 0.335285 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR13G1 His128Arg H128R not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.333 - - 1 - 1 N - - OR13G1 Ile89Ser I89S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742803 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - OR13G1 Lys46Ile K46I not reviewed Insufficiently evaluated not reviewed unknown Array rs28711149 3650 10758 0.339282 31 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR13H1 Tyr266Ser Y266S not reviewed Insufficiently evaluated not reviewed unknown Array rs655415 67 92 0.728261 44 0 81 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR13H1 Arg298Gln R298Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57328754 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 1 - 1 - - OR13J1 His133Arg H133R not reviewed Insufficiently evaluated not reviewed unknown Array rs7044405 89 128 0.695312 48 0 73 0 0 - - - - - - - - - - - - - - - - 0.031 - - 1 - 0 N - - OR14A16 Ile238Thr I238T not reviewed Insufficiently evaluated not reviewed unknown Array rs6695283 10745 10758 0.998792 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR14A16 Val172Ala V172A not reviewed Insufficiently evaluated not reviewed unknown Array rs74152818 274 10758 0.0254694 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.668 - - 2 - 1 N - - OR14A16 Ser163Phe S163F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 5 Y 0 N - - OR14A16 Tyr149Cys Y149C not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR14A16 Leu30Phe L30F not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - OR14C36 Gln141Arg Q141R not reviewed Insufficiently evaluated not reviewed unknown Array rs28448343 20 128 0.15625 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 1 N - - OR14C36 Gly225Arg G225R not reviewed Insufficiently evaluated not reviewed unknown Array rs28377739 65 128 0.507812 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR14C36 Asp231Tyr D231Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28545014 65 128 0.507812 35 0 47 0 0 - - - - - - - - - - - - - - - - 0.847 - - 7 Y 0 N - - OR14C36 Arg305Ile R305I not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.061 - - 7 Y 0 N - - OR14I1 Tyr216Cys Y216C not reviewed Insufficiently evaluated not reviewed unknown Array rs55871516 1365 10758 0.126882 18 0 20 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - OR14I1 Ser170Asn S170N not reviewed Insufficiently evaluated not reviewed unknown Array rs2000390 8072 10758 0.750325 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR14I1 Leu84Met L84M not reviewed Insufficiently evaluated not reviewed unknown Array rs41311583 1344 10758 0.12493 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.043 - - -3 - 0 N - - OR14I1 Asp50Asn D50N not reviewed Insufficiently evaluated not reviewed unknown Array rs4509608 7949 10758 0.738892 44 0 68 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 1 N - - OR14I1 Val36Ala V36A not reviewed Insufficiently evaluated not reviewed unknown Array rs4462184 9676 10758 0.899424 36 0 66 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR14J1 Met7Thr M7T not reviewed Insufficiently evaluated not reviewed unknown Array rs9257694 53 128 0.414062 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - OR1A1 Arg122Stop R122X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR1A1 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array rs4375699 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR1A1 Val233Met V233M not reviewed Insufficiently evaluated not reviewed unknown Array rs17762735 19 128 0.148438 16 0 15 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - OR1A1 Thr245Lys T245K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - OR1A1 Thr277Met T277M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737301 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR1A1 Pro285Ser P285S not reviewed Insufficiently evaluated not reviewed unknown Array rs769427 44 128 0.34375 27 0 31 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 0 N - - OR1A2 Ala110Glu A110E not reviewed Insufficiently evaluated not reviewed unknown Array rs59497198 320 10758 0.0297453 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR1A2 Thr163Ile T163I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OR1A2 Leu244Phe L244F not reviewed Insufficiently evaluated not reviewed unknown Array rs56058341 319 10758 0.0296524 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - OR1A2 Gly256Cys G256C not reviewed Insufficiently evaluated not reviewed unknown Array rs2241091 2966 10758 0.275702 26 0 35 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 1 N - - OR1A2 Arg260Cys R260C not reviewed Insufficiently evaluated not reviewed unknown Array rs2469791 2587 10758 0.240472 18 0 19 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - OR1A2 Trp293Cys W293C not reviewed Insufficiently evaluated not reviewed unknown Array rs12150427 3037 10758 0.282302 26 0 35 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - OR1B1 Val314Gly V314G not reviewed Insufficiently evaluated not reviewed unknown Array rs1556189 92 116 0.793103 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR1B1 Cys263Trp C263W not reviewed Insufficiently evaluated not reviewed unknown Array rs1476858 97 128 0.757812 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR1B1 Ala230Thr A230T not reviewed Insufficiently evaluated not reviewed unknown Array rs1476859 33 128 0.257812 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR1B1 Arg192Stop R192X not reviewed Insufficiently evaluated not reviewed unknown Array rs1476860 24 128 0.1875 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR1B1 Leu149Ser L149S not reviewed Insufficiently evaluated not reviewed unknown Array rs1536929 90 128 0.703125 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR1B1 Asp54Glu D54E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -2 - 2 N - - OR1B1 Val13Phe V13F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - OR1D2 Thr240Ile T240I not reviewed Insufficiently evaluated not reviewed unknown Array rs4300683 24 128 0.1875 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - OR1D2 Val214Met V214M not reviewed Insufficiently evaluated not reviewed unknown Array rs55803944 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1D2 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array rs73300984 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - OR1D2 Phe31Tyr F31Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9916628 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.828 - - -4 - 2 - 3 - - OR1D2 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array rs769423 10 128 0.078125 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR1D4 Arg308Ser R308S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR1D5 Arg290Ser R290S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR1E1 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 243 10758 0.0225878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - OR1E1 Cys27Arg C27R not reviewed Insufficiently evaluated not reviewed unknown Array rs41333251 153 10714 0.0142804 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - 8 Y 0 N - - OR1E2 Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - OR1E2 Ser146Thr S146T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - OR1E2 Met145Val M145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - OR1E2 Leu138Pro L138P not reviewed Insufficiently evaluated not reviewed unknown Array rs73296096 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR1E2 Cys27Arg C27R not reviewed Insufficiently evaluated not reviewed unknown Array rs41333251 88 126 0.698413 46 0 76 0 0 - - - - - - - - - - - - - - - - 0.041 - - 8 Y 0 N - - OR1F1 Pro58Ala P58A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731432 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.453 - - 2 - 1 N - - OR1F1 Tyr60His Y60H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731433 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - OR1F1 Phe75Ser F75S not reviewed Insufficiently evaluated not reviewed unknown Array rs1834026 47 128 0.367188 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR1F1 Thr209Asn T209N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - 1 - 1 N - - OR1G1 Gln88His Q88H not reviewed Insufficiently evaluated not reviewed unknown Array rs9892491 753 10758 0.0699944 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.018 - - -1 - 0 N - - OR1I1 Glu8Lys E8K not reviewed Insufficiently evaluated not reviewed unknown Array rs73522019 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - OR1I1 Ile50Phe I50F not reviewed Insufficiently evaluated not reviewed unknown Array rs59166286 20 128 0.15625 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.17 - - 2 - 0 N - - OR1I1 Pro139Arg P139R not reviewed Insufficiently evaluated not reviewed unknown Array rs8104843 78 126 0.619048 40 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR1I1 Met163Leu M163L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.811 - - -3 - 1 N - - OR1I1 Gly189Cys G189C not reviewed Insufficiently evaluated not reviewed unknown Array rs73008811 20 128 0.15625 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR1I1 Phe211Leu F211L not reviewed Insufficiently evaluated not reviewed unknown Array rs8108721 78 126 0.619048 41 0 61 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - OR1I1 His244Tyr H244Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73008812 20 128 0.15625 14 0 16 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 1 N - - OR1I1 Tyr252Ser Y252S not reviewed Insufficiently evaluated not reviewed unknown Array rs8105737 59 128 0.460938 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - OR1I1 Ile282Phe I282F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 2 - 2 N - - OR1I1 Ile292Thr I292T not reviewed Insufficiently evaluated not reviewed unknown Array rs16980312 20 128 0.15625 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - OR1I1 Gly302Arg G302R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - OR1J1 Asn318Ser N318S not reviewed Insufficiently evaluated not reviewed unknown Array rs1962091 81 128 0.632812 41 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR1J1 Cys235Stop C235X not reviewed Insufficiently evaluated not reviewed unknown Array rs45579335 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR1J1 Ile221Thr I221T not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - OR1J1 Thr137Ser T137S not reviewed Insufficiently evaluated not reviewed unknown Array rs73567906 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR1J2 Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array rs41277120 15 128 0.117188 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.675 - - 1 - 0 N - - OR1J2 Arg165Gln R165Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4836891 10 128 0.078125 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - OR1J2 Ala275Val A275V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 1 N - - OR1K1 Trp271Arg W271R not reviewed Insufficiently evaluated not reviewed unknown Array rs7046603 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 4 - - OR1L1 Ile115Met I115M not reviewed Insufficiently evaluated not reviewed unknown Array rs73571128 13 128 0.101562 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR1L1 Ser145Gly S145G not reviewed Insufficiently evaluated not reviewed unknown Array rs70157 22 128 0.171875 15 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR1L1 Arg285Cys R285C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR1L1 Leu308Val L308V not reviewed Insufficiently evaluated not reviewed unknown Array rs237620 11 128 0.0859375 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR1L3 Arg25Lys R25K not reviewed Insufficiently evaluated not reviewed unknown Array rs61100236 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR1L3 Val106Ala V106A not reviewed Insufficiently evaluated not reviewed unknown Array rs16912096 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR1L3 Asn121Asp N121D not reviewed Insufficiently evaluated not reviewed unknown Array rs16912099 16 128 0.125 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR1L3 Arg138Cys R138C not reviewed Insufficiently evaluated not reviewed unknown Array rs61480152 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 8 Y 2 N - - OR1L3 Leu204Gln L204Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.418 - - 5 Y 1 N - - OR1L3 Val279Ala V279A not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.485 - - 2 - 0 N - - OR1L3 Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 1 N - - OR1L4 Gly234Arg G234R not reviewed Insufficiently evaluated not reviewed unknown Array rs2215530 9122 10758 0.847927 50 0 86 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - OR1L6 Gln59Lys Q59K not reviewed Insufficiently evaluated not reviewed unknown Array rs10760252 115 128 0.898438 51 0 94 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - OR1L6 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array rs73571194 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - OR1L6 Cys186Tyr C186Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4838012 111 126 0.880952 49 0 91 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - OR1L6 Ile251Thr I251T not reviewed Insufficiently evaluated not reviewed unknown Array rs10985760 111 128 0.867188 50 0 91 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 1 N - - OR1L6 Arg257Gln R257Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72616640 111 128 0.867188 48 0 88 0 0 - - - - - - - - - - - - - - - - 0.155 - - 0 - 0 N - - OR1L6 Met259Ile M259I not reviewed Insufficiently evaluated not reviewed unknown Array rs10818741 111 128 0.867188 49 0 89 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR1L6 Val260Leu V260L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - OR1L6 Gly270Arg G270R not reviewed Insufficiently evaluated not reviewed unknown Array rs28670025 107 120 0.891667 47 0 88 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - OR1L8 Arg211Pro R211P not reviewed Insufficiently evaluated not reviewed unknown Array rs10739614 6838 10758 0.63562 53 0 88 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR1L8 Val207Leu V207L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - OR1L8 Ile206Leu I206L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR1L8 Thr27Pro T27P not reviewed Insufficiently evaluated not reviewed unknown Array rs10985704 6133 10758 0.570087 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR1L8 Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.569 - - 0 - 1 N - - OR1N1 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58226717 314 10758 0.0291876 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - OR1N1 Pro18Ser P18S not reviewed Insufficiently evaluated not reviewed unknown Array rs10818708 6142 10758 0.570924 47 0 76 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR1N2 Trp37Arg W37R not reviewed Insufficiently evaluated not reviewed unknown Array rs1831370 70 128 0.546875 44 0 58 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - OR1N2 Phe194Leu F194L not reviewed Insufficiently evaluated not reviewed unknown Array rs41297203 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - OR1N2 Arg237Cys R237C not reviewed Insufficiently evaluated not reviewed unknown Array rs41316976 11 128 0.0859375 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - OR1N2 Val244Gly V244G not reviewed Insufficiently evaluated not reviewed unknown Array rs1341044 106 126 0.84127 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR1N2 Thr301Met T301M not reviewed Insufficiently evaluated not reviewed unknown Array rs1411272 79 126 0.626984 46 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR1Q1 Gln24Arg Q24R not reviewed Insufficiently evaluated not reviewed unknown Array rs972925 100 128 0.78125 51 0 78 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR1Q1 Ile163Met I163M not reviewed Insufficiently evaluated not reviewed unknown Array rs1329957 111 128 0.867188 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR1Q1 Thr240Ala T240A not reviewed Insufficiently evaluated not reviewed unknown Array rs727913 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - OR1S1 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array rs1966836 83 128 0.648438 43 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR1S1 Ile123Thr I123T not reviewed Insufficiently evaluated not reviewed unknown Array rs1966835 68 128 0.53125 41 0 59 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - OR1S1 His135Arg H135R not reviewed Insufficiently evaluated not reviewed unknown Array rs1966834 68 128 0.53125 41 0 59 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR1S1 Asn183Asp N183D not reviewed Insufficiently evaluated not reviewed unknown Array rs61763008 68 128 0.53125 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR1S1 Leu206Met L206M not reviewed Insufficiently evaluated not reviewed unknown Array rs2867400 66 126 0.52381 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR1S1 Ser227Ile S227I not reviewed Insufficiently evaluated not reviewed unknown Array rs2903566 67 128 0.523438 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR1S1 Val238Ala V238A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 2 - 1 N - - OR1S1 Lys316Glu K316E not reviewed Insufficiently evaluated not reviewed unknown Array rs61755192 15 126 0.119048 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 0 N - - OR1S2 Thr268Ile T268I not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2A1 Thr73Ala T73A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2A1 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2A12 Ser264Asn S264N not reviewed Insufficiently evaluated not reviewed unknown Array rs34947817 14 128 0.109375 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2A12 Leu279Phe L279F not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR2A14 Ser133Ile S133I not reviewed Insufficiently evaluated not reviewed unknown Array rs2961160 72 128 0.5625 42 0 59 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR2A14 Pro158His P158H not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2A14 Ser164Arg S164R not reviewed Insufficiently evaluated not reviewed unknown Array rs2961161 75 128 0.585938 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2A14 Met259Val M259V not reviewed Insufficiently evaluated not reviewed unknown Array rs59781893 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - OR2A2 Gln5Lys Q5K not reviewed Insufficiently evaluated not reviewed unknown Array rs10230228 11 114 0.0964912 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.038 - - -2 - 0 N - - OR2A2 Arg171Trp R171W not reviewed Insufficiently evaluated not reviewed unknown Array rs73728207 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR2A2 Leu210Pro L210P not reviewed Insufficiently evaluated not reviewed unknown Array rs10252253 19 128 0.148438 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - OR2A2 Phe280Leu F280L not reviewed Insufficiently evaluated not reviewed unknown Array rs2961149 53 128 0.414062 31 0 42 0 0 - - - - - - - - - - - - - - - - 0.046 - - 0 - 0 N - - OR2A25 Ser75Asn S75N not reviewed Insufficiently evaluated not reviewed unknown Array rs6951485 86 128 0.671875 45 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2A25 Val82Ala V82A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731397 16 128 0.125 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2A25 Ala209Pro A209P not reviewed Insufficiently evaluated not reviewed unknown Array rs2961135 80 128 0.625 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2A4 Val250Phe V250F not reviewed Insufficiently evaluated not reviewed unknown Array rs2527383 46 86 0.534884 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2A42 Thr67Ala T67A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2A42 Arg68Cys R68C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2A5 Glu10Asp E10D not reviewed Insufficiently evaluated not reviewed unknown Array rs61739955 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - OR2A5 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array rs2961144 41 128 0.320312 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - OR2A5 Ala202Ser A202S not reviewed Insufficiently evaluated not reviewed unknown Array rs6464573 41 128 0.320312 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR2A5 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array rs6464574 35 128 0.273438 25 0 26 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR2A7 Thr239Ser T239S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -2 - 2 N - - OR2AE1 Ser286Pro S286P not reviewed Insufficiently evaluated not reviewed unknown Array rs73403577 817 10758 0.0759435 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2AE1 Leu267Val L267V not reviewed Insufficiently evaluated not reviewed unknown Array rs17161997 1576 10758 0.146496 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2AE1 Tyr217Cys Y217C not reviewed Insufficiently evaluated not reviewed unknown Array rs60737583 818 10758 0.0760364 10 0 14 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 1 N - - OR2AE1 Ile77Thr I77T not reviewed Insufficiently evaluated not reviewed unknown Array rs2572023 6768 10758 0.629113 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2AG1 Asn42Ser N42S not reviewed Insufficiently evaluated not reviewed unknown Array rs11826041 467 10758 0.0434096 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.653 - - 0 - 1 N - - OR2AG1 Leu114Pro L114P not reviewed Insufficiently evaluated not reviewed unknown Array 468 10758 0.0435025 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR2AG1 Leu135Val L135V not reviewed Insufficiently evaluated not reviewed unknown Array rs74057919 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - OR2AG1 His183Pro H183P not reviewed Insufficiently evaluated not reviewed unknown Array rs74057920 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2AG1 Val187Leu V187L not reviewed Insufficiently evaluated not reviewed unknown Array rs2659880 2822 10758 0.262316 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2AG1 Pro262Thr P262T not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - OR2AG1 Arg299Gly R299G not reviewed Insufficiently evaluated not reviewed unknown Array rs2659879 2815 10758 0.261666 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2AG1 Arg299Trp R299W not reviewed Insufficiently evaluated not reviewed unknown Array rs2659879 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 2 - 2 - - OR2AG2 Arg299Gly R299G not reviewed Insufficiently evaluated not reviewed unknown Array rs7924459 2220 10758 0.206358 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2AG2 Arg87Leu R87L not reviewed Insufficiently evaluated not reviewed unknown Array rs11828782 3097 10758 0.287879 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - OR2AG2 Arg54Pro R54P not reviewed Insufficiently evaluated not reviewed unknown Array rs10839616 2811 10758 0.261294 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 1 N - - OR2AG2 Tyr28Cys Y28C not reviewed Insufficiently evaluated not reviewed unknown Array rs7102536 9178 10758 0.853133 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2AK2 Gly31Asp G31D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - OR2AK2 Ser99Asn S99N not reviewed Insufficiently evaluated not reviewed unknown Array rs6664332 40 128 0.3125 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2AK2 Leu188Phe L188F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - OR2AK2 Val203Met V203M not reviewed Insufficiently evaluated not reviewed unknown Array rs4478844 56 128 0.4375 26 0 38 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 1 N - - OR2AK2 Arg285Trp R285W not reviewed Insufficiently evaluated not reviewed unknown Array rs74153220 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - OR2AK2 Ala290Thr A290T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - OR2B11 Asp300Gly D300G not reviewed Insufficiently evaluated not reviewed unknown Array rs12070953 16 128 0.125 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 1 N - - OR2B11 Thr293Ile T293I not reviewed Insufficiently evaluated not reviewed unknown Array rs12065526 16 128 0.125 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2B11 Gly223Asp G223D not reviewed Insufficiently evaluated not reviewed unknown Array rs4925663 40 128 0.3125 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.889 - - 4 Y 1 N - - OR2B11 Phe210Leu F210L not reviewed Insufficiently evaluated not reviewed unknown Array rs73140586 15 128 0.117188 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - OR2B11 Val198Met V198M not reviewed Insufficiently evaluated not reviewed unknown Array rs6695302 111 128 0.867188 50 0 86 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2B11 Asn179Asp N179D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - OR2B11 Ile130Ser I130S not reviewed Insufficiently evaluated not reviewed unknown Array rs11583410 52 128 0.40625 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 1 N - - OR2B2 Ala300Ser A300S not reviewed Insufficiently evaluated not reviewed unknown Array rs34788973 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2B2 Ala183Pro A183P not reviewed Insufficiently evaluated not reviewed unknown Array rs9368537 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2B2 Ile39Thr I39T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742093 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2B3 Thr38Ser T38S not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - OR2B6 Val117Ile V117I not reviewed Insufficiently evaluated not reviewed unknown Array rs7767176 8 128 0.0625 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - OR2B6 Gln270Arg Q270R not reviewed Insufficiently evaluated not reviewed unknown Array rs9380030 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2C1 Gly16Ser G16S not reviewed Insufficiently evaluated not reviewed unknown Array rs1218762 3202 10758 0.297639 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2C1 Pro58Ser P58S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2C1 Cys149Trp C149W not reviewed Insufficiently evaluated not reviewed unknown Array rs1218763 10735 10758 0.997862 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2C1 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2C1 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array rs11648783 3205 10758 0.297918 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2C1 Gly312Asp G312D not reviewed Insufficiently evaluated not reviewed unknown Array 119 10744 0.0110759 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2C3 Leu289Val L289V not reviewed Insufficiently evaluated not reviewed unknown Array rs6702693 1507 10758 0.140082 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.684 - - 0 - 0 N - - OR2C3 His177Gln H177Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58515573 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - OR2C3 Arg129Ser R129S not reviewed Insufficiently evaluated not reviewed unknown Array rs34220133 1373 10758 0.127626 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 1 N - - OR2C3 Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array rs6657127 10737 10758 0.998048 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2C3 Ile30Leu I30L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - OR2C3 Thr20Ala T20A not reviewed Insufficiently evaluated not reviewed unknown Array rs6697472 10462 10758 0.972486 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2D2 Arg220Gly R220G not reviewed Insufficiently evaluated not reviewed unknown Array rs60116285 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - OR2D2 Met202Thr M202T not reviewed Insufficiently evaluated not reviewed unknown Array rs2741804 47 128 0.367188 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2D2 Ile163Met I163M not reviewed Insufficiently evaluated not reviewed unknown Array rs1965207 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2D2 Ile163Thr I163T not reviewed Insufficiently evaluated not reviewed unknown Array rs1965208 117 128 0.914062 43 0 75 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2D2 Ser148Pro S148P not reviewed Insufficiently evaluated not reviewed unknown Array rs1965209 17 128 0.132812 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2D2 Phe107Cys F107C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2D2 His84Tyr H84Y not reviewed Insufficiently evaluated not reviewed unknown Array rs57896484 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - OR2D3 Leu82Ile L82I not reviewed Insufficiently evaluated not reviewed unknown Array rs10839658 66 128 0.515625 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.982 - - -2 - 1 N - - OR2D3 Arg155Trp R155W not reviewed Insufficiently evaluated not reviewed unknown Array rs12806437 15 128 0.117188 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - OR2D3 Ser164Phe S164F not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - OR2D3 Trp165Ser W165S not reviewed Insufficiently evaluated not reviewed unknown Array rs10839659 30 128 0.234375 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - OR2F1 Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array rs73464587 567 10752 0.0527344 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.883 - - 1 - 1 N - - OR2F1 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array rs2072164 766 10758 0.0712028 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.971 - - 8 Y 2 - 4 - - OR2F1 His137Arg H137R not reviewed Insufficiently evaluated not reviewed unknown Array rs2072165 2083 10758 0.193623 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.179 - - 1 - 0 N - - OR2F1 Thr240Met T240M not reviewed Insufficiently evaluated not reviewed unknown Array rs73464588 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - OR2F2 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744352 54 128 0.421875 33 0 46 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR2F2 Thr170Ala T170A not reviewed Insufficiently evaluated not reviewed unknown Array rs13229174 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - OR2F2 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740239 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR2F2 Tyr278His Y278H not reviewed Insufficiently evaluated not reviewed unknown Array rs13235235 27 128 0.210938 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - OR2G2 Pro24Ala P24A not reviewed Insufficiently evaluated not reviewed unknown Array rs12737801 15 128 0.117188 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 1 N - - OR2G2 Val120Leu V120L not reviewed Insufficiently evaluated not reviewed unknown Array rs1151687 75 128 0.585938 39 0 57 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - OR2G2 Met150Val M150V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732336 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - OR2G2 Leu167Pro L167P not reviewed Insufficiently evaluated not reviewed unknown Array rs10925085 38 128 0.296875 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.849 - - 7 Y 0 N - - OR2G2 Arg236Gly R236G not reviewed Insufficiently evaluated not reviewed unknown Array rs869111 45 128 0.351562 29 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2G2 Arg286His R286H not reviewed Insufficiently evaluated not reviewed unknown Array rs74152638 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 1 - 0 N - - OR2G3 Pro21Ser P21S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751929 3 128 0.0234375 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OR2G3 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748963 10 128 0.078125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - OR2G3 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array rs56795889 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - OR2G3 Lys229Ile K229I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744523 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.8 - - 6 Y 2 - 1 - - OR2G3 Val258Met V258M not reviewed Insufficiently evaluated not reviewed unknown Array rs12072304 4 128 0.03125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2G3 Ile289Val I289V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730407 38 128 0.296875 26 0 26 0 0 - - - - - - - - - - - - - - - - 0.948 - - -4 - 1 N - - OR2G6 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array rs58955396 343 10758 0.0318832 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 3 - - OR2G6 Met105Leu M105L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - OR2G6 Gly152Ser G152S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - OR2G6 Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - -4 - 2 N - - OR2G6 Met258Leu M258L not reviewed Insufficiently evaluated not reviewed unknown Array rs9330305 1820 10758 0.169176 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.991 - - -3 - 1 N - - OR2H1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 7524 0.000132908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - OR2H1 Met57Ile M57I not reviewed Insufficiently evaluated not reviewed unknown Array 38 7524 0.00505051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - OR2H1 Asp63Asn D63N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732184 324 7524 0.0430622 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2H2 Leu30Phe L30F not reviewed Insufficiently evaluated not reviewed unknown Array rs3129034 5418 7524 0.720096 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2H2 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array rs1233387 1969 7522 0.261765 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2H2 Gly150Ala G150A not reviewed Insufficiently evaluated not reviewed unknown Array 5 7520 0.000664893 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2H2 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 7524 0.00186071 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2J2 Val30Gly V30G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2J2 Tyr74His Y74H not reviewed Insufficiently evaluated not reviewed unknown Array rs3116855 42 128 0.328125 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR2J2 Thr111Ala T111A not reviewed Insufficiently evaluated not reviewed unknown Array rs3129157 124 128 0.96875 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2J2 Val146Ala V146A not reviewed Insufficiently evaluated not reviewed unknown Array rs3116856 51 128 0.398438 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2J2 Thr218Ala T218A not reviewed Insufficiently evaluated not reviewed unknown Array rs3130743 42 128 0.328125 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2J2 Lys312Met K312M not reviewed Insufficiently evaluated not reviewed unknown Array rs41270632 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2J3 Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array rs28757581 35 128 0.273438 20 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2J3 Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3749977 48 126 0.380952 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2J3 Ile228Val I228V not reviewed Insufficiently evaluated not reviewed unknown Array rs3130764 102 128 0.796875 49 0 84 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR2J3 Val240Ala V240A not reviewed Insufficiently evaluated not reviewed unknown Array 5 120 0.0416667 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2J3 Met261Ile M261I not reviewed Insufficiently evaluated not reviewed unknown Array rs3130765 97 128 0.757812 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR2K2 Gly278Arg G278R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748723 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2K2 Phe237Ser F237S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2K2 Thr146Met T146M not reviewed Insufficiently evaluated not reviewed unknown Array rs73656223 3 124 0.0241935 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2K2 Thr146Ala T146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2K2 Leu105Phe L105F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2K2 Val29Ile V29I not reviewed Insufficiently evaluated not reviewed unknown Array rs73531578 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR2L13 Arg265His R265H not reviewed Insufficiently evaluated not reviewed unknown Array rs45577033 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 1 - 1 - - OR2L13 Leu273Arg L273R not reviewed Insufficiently evaluated not reviewed unknown Array rs74153072 692 10758 0.0643242 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - OR2L13 Met283Val M283V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.432 - - 0 - 1 N - - OR2L2 Val259Leu V259L not reviewed Insufficiently evaluated not reviewed unknown Array rs6658141 3564 10758 0.331288 29 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2L2 Ser309Stop S309X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR2L3 Ile39Thr I39T not reviewed Insufficiently evaluated not reviewed unknown Array rs6666048 2001 10752 0.186105 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - OR2L3 Pro78Leu P78L not reviewed Insufficiently evaluated not reviewed unknown Array rs6658227 2002 10758 0.186094 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 1 N - - OR2L3 Ser104Leu S104L not reviewed Insufficiently evaluated not reviewed unknown Array rs6658256 3107 10758 0.288808 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2L3 Met139Val M139V not reviewed Insufficiently evaluated not reviewed unknown Array rs55937620 1692 10758 0.157278 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2L3 Gly196Cys G196C not reviewed Insufficiently evaluated not reviewed unknown Array 2602 10748 0.242092 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2L3 Val255Phe V255F not reviewed Insufficiently evaluated not reviewed unknown Array rs6697812 643 10752 0.0598028 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2L8 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array rs57818366 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - OR2L8 Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR2L8 Gly196Cys G196C not reviewed Insufficiently evaluated not reviewed unknown Array rs4925788 7242 10724 0.675308 39 0 67 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2L8 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array rs34851853 6192 10704 0.578475 37 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2L8 Tyr217Cys Y217C not reviewed Insufficiently evaluated not reviewed unknown Array rs4925583 8058 10758 0.749024 34 0 57 0 0 - - - - - - - - - - - - - - - - 0.309 - - 6 Y 0 N - - OR2L8 His226Arg H226R not reviewed Insufficiently evaluated not reviewed unknown Array rs4925792 8208 10758 0.762967 37 0 63 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - OR2L8 Tyr289Stop Y289X not reviewed Insufficiently evaluated not reviewed unknown Array rs10888281 7960 10754 0.74019 23 0 39 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR2L8 Lys294Arg K294R not reviewed Insufficiently evaluated not reviewed unknown Array rs10888282 9882 10754 0.918914 20 0 39 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - OR2L8 Thr301Lys T301K not reviewed Insufficiently evaluated not reviewed unknown Array rs74155337 442 10746 0.0411316 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2M2 Arg220Gly R220G not reviewed Insufficiently evaluated not reviewed unknown Array rs4244171 74 128 0.578125 41 0 56 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - OR2M2 Cys235Arg C235R not reviewed Insufficiently evaluated not reviewed unknown Array rs4916104 72 128 0.5625 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR2M4 Pro262Gln P262Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 3 - 1 - - OR2M5 Pro138Thr P138T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - 4 Y 0 N - - OR2M5 Met144Thr M144T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.059 - - 2 - 0 N - - OR2M5 Ala162Glu A162E not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2M5 Met228Val M228V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - OR2M5 Lys303Glu K303E not reviewed Insufficiently evaluated not reviewed unknown Array rs73141283 9 128 0.0703125 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - OR2M7 Gly229Arg G229R not reviewed Insufficiently evaluated not reviewed unknown Array rs74153159 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.134 - - 6 Y 0 N - - OR2M7 Cys202Tyr C202Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR2M7 Asp191Asn D191N not reviewed Insufficiently evaluated not reviewed unknown Array rs4916129 50 124 0.403226 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - OR2M7 Cys178Phe C178F not reviewed Insufficiently evaluated not reviewed unknown Array rs4916130 98 128 0.765625 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2M7 Val78Ala V78A not reviewed Insufficiently evaluated not reviewed unknown Array rs7555310 91 128 0.710938 49 0 72 0 0 - - - - - - - - - - - - - - - - 0.845 - - 2 - 0 N - - OR2M7 Met72Ile M72I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.851 - - -1 - 2 N - - OR2M7 Met72Lys M72K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - OR2M7 Ser36Leu S36L not reviewed Insufficiently evaluated not reviewed unknown Array rs61999307 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR2M7 Phe35Leu F35L not reviewed Insufficiently evaluated not reviewed unknown Array rs7555424 89 126 0.706349 48 0 70 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 1 N - - OR2M7 Leu13Ile L13I not reviewed Insufficiently evaluated not reviewed unknown Array rs62000388 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR2S2 Met143Val M143V not reviewed Insufficiently evaluated not reviewed unknown Array rs2233564 3784 10758 0.351738 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR2S2 Arg123His R123H not reviewed Insufficiently evaluated not reviewed unknown Array 296 10758 0.0275144 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 1 N - - OR2S2 Arg17Gly R17G not reviewed Insufficiently evaluated not reviewed unknown Array rs2233558 4017 10758 0.373397 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2T1 His25Arg H25R not reviewed Insufficiently evaluated not reviewed unknown Array rs28599722 45 128 0.351562 23 0 32 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR2T1 Cys177Phe C177F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - OR2T1 Cys177Trp C177W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR2T1 Asn178Thr N178T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 1 - 2 N - - OR2T1 Thr308Ser T308S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736252 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - -2 - 2 - 2 - - OR2T1 Arg363Thr R363T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - OR2T10 Leu301Phe L301F not reviewed Insufficiently evaluated not reviewed unknown Array rs61732484 10 126 0.0793651 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - OR2T10 Tyr220Phe Y220F not reviewed Insufficiently evaluated not reviewed unknown Array rs28733753 10 126 0.0793651 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR2T10 Met199Thr M199T not reviewed Insufficiently evaluated not reviewed unknown Array rs28664620 12 126 0.0952381 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 0 N - - OR2T10 Arg26Cys R26C not reviewed Insufficiently evaluated not reviewed unknown Array rs28405936 10 126 0.0793651 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR2T11 Gln309Arg Q309R not reviewed Insufficiently evaluated not reviewed unknown Array rs1892442 9856 10412 0.9466 51 0 97 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR2T11 Pro226Arg P226R not reviewed Insufficiently evaluated not reviewed unknown Array rs28555577 805 10406 0.0773592 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR2T11 Met203Arg M203R not reviewed Insufficiently evaluated not reviewed unknown Array 70 10408 0.00672559 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - OR2T11 Cys119Arg C119R not reviewed Insufficiently evaluated not reviewed unknown Array rs1892443 9375 10410 0.900576 50 0 94 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR2T11 Ile88Thr I88T not reviewed Insufficiently evaluated not reviewed unknown Array rs34397542 805 10406 0.0773592 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2T12 Arg301Leu R301L not reviewed Insufficiently evaluated not reviewed unknown Array rs6667171 92 124 0.741935 46 0 74 0 0 - - - - - - - - - - - - - - - - 0.018 - - 6 Y 0 N - - OR2T12 Lys296Asn K296N not reviewed Insufficiently evaluated not reviewed unknown Array rs11204625 15 126 0.119048 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.95 - - 1 - 1 N - - OR2T12 Ala231Gly A231G not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - OR2T12 Thr104Ser T104S not reviewed Insufficiently evaluated not reviewed unknown Array rs12137982 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - -2 - 0 N - - OR2T12 Met69Val M69V not reviewed Insufficiently evaluated not reviewed unknown Array rs6678138 78 96 0.8125 34 0 59 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - OR2T12 Arg55Thr R55T not reviewed Insufficiently evaluated not reviewed unknown Array rs12745228 25 52 0.480769 11 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2T12 Arg55Gly R55G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.407 - - 6 Y 1 N - - OR2T12 Trp49Arg W49R not reviewed Insufficiently evaluated not reviewed unknown Array rs28409263 3 62 0.0483871 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - OR2T12 Ala41Ser A41S not reviewed Insufficiently evaluated not reviewed unknown Array rs12135684 6 86 0.0697674 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR2T2 Leu104Phe L104F not reviewed Insufficiently evaluated not reviewed unknown Array rs36008363 2276 10758 0.211563 38 0 40 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR2T2 His267Tyr H267Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - OR2T27 Val238Gly V238G not reviewed Insufficiently evaluated not reviewed unknown Array 5 118 0.0423729 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.766 - - 8 Y 1 N - - OR2T27 Gly235Arg G235R not reviewed Insufficiently evaluated not reviewed unknown Array rs1782239 3 76 0.0394737 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR2T27 Tyr218His Y218H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR2T27 Ser215Leu S215L not reviewed Insufficiently evaluated not reviewed unknown Array 16 118 0.135593 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - OR2T27 Asp155Asn D155N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.661 - - -1 - 1 N - - OR2T27 Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2T27 Val134Asp V134D not reviewed Insufficiently evaluated not reviewed unknown Array rs1782240 8 44 0.181818 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.045 - - 8 Y 0 N - - OR2T27 Tyr120Cys Y120C not reviewed Insufficiently evaluated not reviewed unknown Array rs61834488 23 52 0.442308 13 0 20 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - OR2T27 Lys45Met K45M not reviewed Insufficiently evaluated not reviewed unknown Array rs28533004 10 26 0.384615 10 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2T27 Leu36Val L36V not reviewed Insufficiently evaluated not reviewed unknown Array rs1782242 48 50 0.96 26 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2T29 Lys35Met K35M not reviewed Insufficiently evaluated not reviewed unknown Array 6306 9564 0.659348 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2T29 Gln18Arg Q18R not reviewed Insufficiently evaluated not reviewed unknown Array rs1629363 6240 10632 0.586907 30 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2T3 Met64Thr M64T not reviewed Insufficiently evaluated not reviewed unknown Array 340 9870 0.0344478 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.765 - - 2 - 1 N - - OR2T3 Asp95Tyr D95Y not reviewed Insufficiently evaluated not reviewed unknown Array 636 10724 0.0593062 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2T3 Met204Thr M204T not reviewed Insufficiently evaluated not reviewed unknown Array rs1770110 100 10338 0.00967305 8 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 4 - - OR2T3 Ser247Phe S247F not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - OR2T3 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2T3 Met277Val M277V not reviewed Insufficiently evaluated not reviewed unknown Array 994 10756 0.0924135 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - 0 - 0 N - - OR2T3 Arg298Cys R298C not reviewed Insufficiently evaluated not reviewed unknown Array 1025 10742 0.0954198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 1 N - - OR2T33 Gly297Ala G297A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - OR2T33 Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array rs10888338 11 20 0.55 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - OR2T33 Arg141Lys R141K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - OR2T33 Trp49Arg W49R not reviewed Insufficiently evaluated not reviewed unknown Array 2 8 0.25 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - OR2T33 Leu30Pro L30P not reviewed Insufficiently evaluated not reviewed unknown Array rs74155265 5 110 0.0454545 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.906 - - 7 Y 2 N - - OR2T34 Arg267Pro R267P not reviewed Insufficiently evaluated not reviewed unknown Array rs1770107 10335 10480 0.986164 26 0 52 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR2T34 Ser247Phe S247F not reviewed Insufficiently evaluated not reviewed unknown Array 1787 10716 0.16676 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 5 Y 0 N - - OR2T34 Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array 1364 10718 0.127263 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR2T34 Met202Thr M202T not reviewed Insufficiently evaluated not reviewed unknown Array rs1770111 795 10600 0.075 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - OR2T34 Phe183Ser F183S not reviewed Insufficiently evaluated not reviewed unknown Array 1036 10678 0.0970219 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - OR2T35 Gly323Asp G323D not reviewed Insufficiently evaluated not reviewed unknown Array 2170 7376 0.294197 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2T35 Leu261Gln L261Q not reviewed Insufficiently evaluated not reviewed unknown Array 8528 10334 0.825237 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - OR2T35 Tyr104Phe Y104F not reviewed Insufficiently evaluated not reviewed unknown Array 2589 7306 0.354366 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -4 - 1 N - - OR2T35 Val31Ile V31I not reviewed Insufficiently evaluated not reviewed unknown Array rs1782218 3790 5204 0.728286 51 0 98 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR2T4 Asn31Ser N31S not reviewed Insufficiently evaluated not reviewed unknown Array rs57795102 872 10620 0.0821092 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 2 - - OR2T4 Leu47Met L47M not reviewed Insufficiently evaluated not reviewed unknown Array 617 10756 0.0573633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 - 1 - - OR2T4 Cys60Ser C60S not reviewed Insufficiently evaluated not reviewed unknown Array rs28491677 917 10758 0.0852389 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.066 - - 3 - 0 N - - OR2T4 Gly73Glu G73E not reviewed Insufficiently evaluated not reviewed unknown Array 940 10758 0.0873768 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - OR2T4 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 1902 10758 0.176799 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2T4 His86Tyr H86Y not reviewed Insufficiently evaluated not reviewed unknown Array 1614 10758 0.150028 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.1 - - -1 - 0 N - - OR2T4 Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array rs28655275 988 10754 0.0918728 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2T4 Ile253Leu I253L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 3 - 1 - - OR2T4 Ile253Phe I253F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 3 - 1 - - OR2T4 Gly259Arg G259R not reviewed Insufficiently evaluated not reviewed unknown Array rs28718027 2021 10758 0.18786 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2T4 Pro300Ser P300S not reviewed Insufficiently evaluated not reviewed unknown Array rs28698997 2042 10758 0.189812 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - OR2T4 Tyr322Cys Y322C not reviewed Insufficiently evaluated not reviewed unknown Array rs74153570 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR2T5 Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array rs1770043 6881 9366 0.734679 16 0 28 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR2T5 Arg24Stop R24X not reviewed Insufficiently evaluated not reviewed unknown Array 469 10746 0.0436441 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR2T5 Lys41Met K41M not reviewed Insufficiently evaluated not reviewed unknown Array 2366 10632 0.222536 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2T5 Gly45Glu G45E not reviewed Insufficiently evaluated not reviewed unknown Array 2234 10730 0.208201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - OR2T5 Glu200Lys E200K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - OR2T6 Glu3Lys E3K not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR2T6 Asn21Asp N21D not reviewed Insufficiently evaluated not reviewed unknown Array rs7417616 2756 10758 0.256181 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR2T6 Cys23Gly C23G not reviewed Insufficiently evaluated not reviewed unknown Array rs6587467 8123 10758 0.755066 46 0 76 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2T6 Glu89Lys E89K not reviewed Insufficiently evaluated not reviewed unknown Array rs61736246 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2T6 Ser243Ala S243A not reviewed Insufficiently evaluated not reviewed unknown Array rs954475 2691 10758 0.250139 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 1 N - - OR2T6 Val273Asp V273D not reviewed Insufficiently evaluated not reviewed unknown Array rs56967655 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 8 Y 1 N - - OR2T8 Gly39Ser G39S not reviewed Insufficiently evaluated not reviewed unknown Array rs11204563 17 70 0.242857 12 0 17 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - OR2T8 Trp49Arg W49R not reviewed Insufficiently evaluated not reviewed unknown Array rs11204564 41 44 0.931818 22 0 39 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - OR2T8 Val69Met V69M not reviewed Insufficiently evaluated not reviewed unknown Array rs28575687 11 116 0.0948276 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2T8 Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2T8 Pro103Leu P103L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR2T8 Asn143Thr N143T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2T8 Leu144Met L144M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR2T8 Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2T8 Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array rs61857492 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - OR2T8 Thr179Ala T179A not reviewed Insufficiently evaluated not reviewed unknown Array rs4584426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - OR2T8 Met197Arg M197R not reviewed Insufficiently evaluated not reviewed unknown Array rs34508376 5 54 0.0925926 3 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 1 N - - OR2T8 Ala221Ser A221S not reviewed Insufficiently evaluated not reviewed unknown Array rs4362017 4 52 0.0769231 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR2T8 Ala231Gly A231G not reviewed Insufficiently evaluated not reviewed unknown Array rs4595394 15 64 0.234375 9 0 15 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 1 N - - OR2T8 Asp269Asn D269N not reviewed Insufficiently evaluated not reviewed unknown Array rs4590708 33 108 0.305556 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - OR2T8 Arg311His R311H not reviewed Insufficiently evaluated not reviewed unknown Array rs58882030 5 128 0.0390625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2V2 Val106Leu V106L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 3 - 1 - - OR2V2 His221Arg H221R not reviewed Insufficiently evaluated not reviewed unknown Array rs2546423 77 128 0.601562 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - OR2W1 Asp296Asn D296N not reviewed Insufficiently evaluated not reviewed unknown Array rs35771565 1330 7524 0.176768 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 0 N - - OR2W1 Met81Val M81V not reviewed Insufficiently evaluated not reviewed unknown Array rs34892006 350 7524 0.0465178 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - OR2W3 Asp70Glu D70E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - OR2W3 Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array rs61750779 15 128 0.117188 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - OR2W3 Thr148Ala T148A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2W3 Arg179Cys R179C not reviewed Insufficiently evaluated not reviewed unknown Array rs10888267 47 128 0.367188 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR2W3 Val190Ile V190I not reviewed Insufficiently evaluated not reviewed unknown Array rs12135078 42 128 0.328125 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - OR2W3 Glu196Asp E196D not reviewed Insufficiently evaluated not reviewed unknown Array rs12139390 68 128 0.53125 32 0 50 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 1 N - - OR2W3 Met272Lys M272K not reviewed Insufficiently evaluated not reviewed unknown Array rs11204545 61 128 0.476562 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2W3 Met275Thr M275T not reviewed Insufficiently evaluated not reviewed unknown Array rs11204546 62 128 0.484375 34 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2W5 Tyr123Stop Y123X not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR2W5 Pro208Ser P208S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2W5 Trp312Cys W312C not reviewed Insufficiently evaluated not reviewed unknown Array rs74152606 555 10758 0.0515895 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2Y1 Arg268His R268H not reviewed Insufficiently evaluated not reviewed unknown Array rs61735555 233 10758 0.0216583 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - OR2Y1 Arg233Cys R233C not reviewed Insufficiently evaluated not reviewed unknown Array rs61736842 229 10758 0.0212865 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.054 - - 8 Y 0 N - - OR2Y1 Val200Leu V200L not reviewed Insufficiently evaluated not reviewed unknown Array rs10464105 9913 10758 0.921454 53 0 97 0 0 - - - - - - - - - - - - - - - - 0.784 - - 0 - 0 N - - OR2Y1 Val154Met V154M not reviewed Insufficiently evaluated not reviewed unknown Array 195 10758 0.018126 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - OR2Y1 Arg128Cys R128C not reviewed Insufficiently evaluated not reviewed unknown Array rs11960429 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 3 - 4 - - OR2Y1 His65Tyr H65Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61737927 260 10758 0.0241681 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - OR2Y1 Phe61Tyr F61Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73815111 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - OR2Y1 Arg54Trp R54W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - OR2Z1 Arg138Cys R138C not reviewed Insufficiently evaluated not reviewed unknown Array rs58741481 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.964 - - 8 Y 3 - 2 - - OR2Z1 Leu250Ile L250I not reviewed Insufficiently evaluated not reviewed unknown Array rs73489595 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - OR3A1 Arg125Gln R125Q not reviewed Insufficiently evaluated not reviewed unknown Array rs703903 4920 10758 0.457334 38 0 58 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - OR3A1 Lys92Stop K92X not reviewed Insufficiently evaluated not reviewed unknown Array rs7218125 234 10758 0.0217513 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - OR3A2 Leu196Val L196V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734039 239 10754 0.0222243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 0 - 1 N - - OR3A2 Leu190Val L190V not reviewed Insufficiently evaluated not reviewed unknown Array rs9901356 1847 10752 0.171782 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.716 - - 0 - 0 N - - OR3A2 His185Asp H185D not reviewed Insufficiently evaluated not reviewed unknown Array 160 10712 0.0149365 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 2 N - - OR3A2 Glu20Lys E20K not reviewed Insufficiently evaluated not reviewed unknown Array 208 10668 0.0194976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - OR3A3 Thr48Ile T48I not reviewed Insufficiently evaluated not reviewed unknown Array rs227789 63 76 0.828947 29 0 56 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR3A3 Leu132Phe L132F not reviewed Insufficiently evaluated not reviewed unknown Array rs61422980 16 66 0.242424 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR3A3 Met287Val M287V not reviewed Insufficiently evaluated not reviewed unknown Array rs12939997 8 128 0.0625 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR3A3 Lys317Glu K317E not reviewed Insufficiently evaluated not reviewed unknown Array rs227787 29 122 0.237705 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4A15 Pro26Ser P26S not reviewed Insufficiently evaluated not reviewed unknown Array rs1425193 27 128 0.210938 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - OR4A15 Trp177Gly W177G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 7 Y 2 N - - OR4A15 Ala287Val A287V not reviewed Insufficiently evaluated not reviewed unknown Array rs7927370 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4A15 Pro312Ser P312S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.765 - - 3 - 1 N - - OR4A16 Leu188Ile L188I not reviewed Insufficiently evaluated not reviewed unknown Array rs11229158 49 128 0.382812 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR4A16 Lys303Met K303M not reviewed Insufficiently evaluated not reviewed unknown Array rs10896659 49 128 0.382812 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR4A47 Ile104Leu I104L not reviewed Insufficiently evaluated not reviewed unknown Array rs7103557 57 128 0.445312 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR4A47 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array rs7103992 53 124 0.427419 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4A47 Ala192Asp A192D not reviewed Insufficiently evaluated not reviewed unknown Array rs7103932 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - OR4A47 Ser236Pro S236P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4A47 Thr237Asn T237N not reviewed Insufficiently evaluated not reviewed unknown Array rs73464794 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR4A5 Glu296Lys E296K not reviewed Insufficiently evaluated not reviewed unknown Array 79 10740 0.00735568 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4A5 Thr285Arg T285R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.675 - - 3 - 1 N - - OR4A5 Leu219Gln L219Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35083184 1044 10756 0.0970621 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.175 - - 5 Y 0 N - - OR4A5 Tyr161Cys Y161C not reviewed Insufficiently evaluated not reviewed unknown Array rs61890334 623 10758 0.0579104 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.13 - - 6 Y 0 N - - OR4A5 Lys23Asn K23N not reviewed Insufficiently evaluated not reviewed unknown Array rs56302591 1005 10756 0.0934362 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - OR4A5 Phe15Ile F15I not reviewed Insufficiently evaluated not reviewed unknown Array rs61890335 444 10750 0.0413023 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.478 - - 2 - 1 N - - OR4A5 Asn6Ser N6S not reviewed Insufficiently evaluated not reviewed unknown Array rs10902343 1309 10742 0.121858 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - OR4B1 Val47Ile V47I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731419 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - OR4B1 Cys63Tyr C63Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11606506 33 128 0.257812 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR4B1 Ile219Val I219V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731414 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.976 - - -4 - 2 N - - OR4B1 Thr237Asn T237N not reviewed Insufficiently evaluated not reviewed unknown Array rs12292056 13 128 0.101562 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 1 N - - OR4B1 Thr274Lys T274K not reviewed Insufficiently evaluated not reviewed unknown Array rs7130086 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 1 N - - OR4B1 Thr274Met T274M not reviewed Insufficiently evaluated not reviewed unknown Array rs7130086 4 128 0.03125 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - OR4C11 Arg258His R258H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.192 - - 1 - 0 N - - OR4C11 Ser240Thr S240T not reviewed Insufficiently evaluated not reviewed unknown Array rs7114415 5 118 0.0423729 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - OR4C11 Met192Thr M192T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 2 - 0 N - - OR4C11 Gln157Stop Q157X not reviewed Insufficiently evaluated not reviewed unknown Array 5 118 0.0423729 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR4C11 Leu15Ile L15I not reviewed Insufficiently evaluated not reviewed unknown Array rs11230346 25 114 0.219298 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 0 N - - OR4C11 Pro8Thr P8T not reviewed Insufficiently evaluated not reviewed unknown Array rs491160 9 114 0.0789474 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR4C12 Val283Leu V283L not reviewed Insufficiently evaluated not reviewed unknown Array rs4598671 67 128 0.523438 35 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4C13 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array rs28378220 10 128 0.078125 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR4C13 Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array rs28662375 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR4C13 Ile276Val I276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - OR4C15 Leu14His L14H not reviewed Insufficiently evaluated not reviewed unknown Array rs17581532 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4C15 Ala106Asp A106D not reviewed Insufficiently evaluated not reviewed unknown Array rs17496724 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4C15 Leu214Ile L214I not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - OR4C15 Asn228His N228H not reviewed Insufficiently evaluated not reviewed unknown Array rs61919569 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4C15 Val253Ile V253I not reviewed Insufficiently evaluated not reviewed unknown Array rs12790125 21 128 0.164062 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR4C15 Leu275Ser L275S not reviewed Insufficiently evaluated not reviewed unknown Array rs17581700 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4C15 Arg286Cys R286C not reviewed Insufficiently evaluated not reviewed unknown Array rs12225462 17 128 0.132812 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR4C15 Glu346Stop E346X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR4C16 Gln17Stop Q17X not reviewed Insufficiently evaluated not reviewed unknown Array rs1459101 31 128 0.242188 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR4C16 Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array rs12800642 22 128 0.171875 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR4C16 Leu34Trp L34W not reviewed Insufficiently evaluated not reviewed unknown Array 5 122 0.0409836 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.45 - - 5 Y 1 N - - OR4C16 Ser46Thr S46T not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR4C16 Thr76Ala T76A not reviewed Insufficiently evaluated not reviewed unknown Array rs557590 112 128 0.875 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4C16 Glu189Asp E189D not reviewed Insufficiently evaluated not reviewed unknown Array rs61916568 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR4C16 Leu259Pro L259P not reviewed Insufficiently evaluated not reviewed unknown Array rs559449 63 128 0.492188 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4C16 Lys288Arg K288R not reviewed Insufficiently evaluated not reviewed unknown Array rs56111016 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR4C3 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array rs72911451 20 84 0.238095 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4C3 Thr17Ser T17S not reviewed Insufficiently evaluated not reviewed unknown Array 7 122 0.057377 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR4C3 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C3 Ala20Glu A20E not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C3 Asp29Glu D29E not reviewed Insufficiently evaluated not reviewed unknown Array rs72911452 61 128 0.476562 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR4C3 Gln32His Q32H not reviewed Insufficiently evaluated not reviewed unknown Array 63 128 0.492188 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR4C3 Phe38Val F38V not reviewed Insufficiently evaluated not reviewed unknown Array 63 128 0.492188 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4C3 Gln49His Q49H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4C3 Ser100Phe S100F not reviewed Insufficiently evaluated not reviewed unknown Array rs73463994 28 56 0.5 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR4C3 Val142Leu V142L not reviewed Insufficiently evaluated not reviewed unknown Array 29 118 0.245763 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4C3 Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array 24 122 0.196721 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4C3 Asn157Tyr N157Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4C3 Asn157Ser N157S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4C3 Trp174Stop W174X not reviewed Insufficiently evaluated not reviewed unknown Array rs72473368 61 126 0.484127 48 0 48 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR4C3 Pro192Leu P192L not reviewed Insufficiently evaluated not reviewed unknown Array rs73464001 50 100 0.5 41 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4C3 Ala203Val A203V not reviewed Insufficiently evaluated not reviewed unknown Array rs73465905 56 112 0.5 46 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR4C3 Glu211Gly E211G not reviewed Insufficiently evaluated not reviewed unknown Array 37 102 0.362745 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR4C3 Ala213Gly A213G not reviewed Insufficiently evaluated not reviewed unknown Array 36 106 0.339623 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4C3 Cys259Arg C259R not reviewed Insufficiently evaluated not reviewed unknown Array rs73465910 24 60 0.4 20 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR4C3 Val272Phe V272F not reviewed Insufficiently evaluated not reviewed unknown Array rs73465911 36 80 0.45 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4C3 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4C3 His285Leu H285L not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4C3 Thr289Ile T289I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C3 Pro291Ser P291S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C45 Arg287Ser R287S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C45 Pro283Arg P283R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4C45 Pro283Ser P283S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C45 Phe249Cys F249C not reviewed Insufficiently evaluated not reviewed unknown Array rs7941588 99 124 0.798387 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR4C45 Ile241Thr I241T not reviewed Insufficiently evaluated not reviewed unknown Array rs73453179 26 72 0.361111 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4C45 Arg229Leu R229L not reviewed Insufficiently evaluated not reviewed unknown Array 5 92 0.0543478 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR4C45 Arg228His R228H not reviewed Insufficiently evaluated not reviewed unknown Array 7 90 0.0777778 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4C45 Val210Asp V210D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR4C45 Met208Ile M208I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4C45 Asn170Asp N170D not reviewed Insufficiently evaluated not reviewed unknown Array rs73453180 47 102 0.460784 37 0 37 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR4C45 Pro134Ser P134S not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C45 Ser132Thr S132T not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR4C45 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR4C45 Ile107Thr I107T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C45 Glu103Ala E103A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C45 Lys84Asn K84N not reviewed Insufficiently evaluated not reviewed unknown Array rs73453188 28 58 0.482759 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4C45 Asn77Ile N77I not reviewed Insufficiently evaluated not reviewed unknown Array rs73453191 18 44 0.409091 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4C45 Cys68Tyr C68Y not reviewed Insufficiently evaluated not reviewed unknown Array rs72896825 2 104 0.0192308 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4C45 Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array 2 72 0.0277778 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4C45 Ile5Thr I5T not reviewed Insufficiently evaluated not reviewed unknown Array rs12420054 21 46 0.456522 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4C46 Ser60Phe S60F not reviewed Insufficiently evaluated not reviewed unknown Array rs11246606 25 126 0.198413 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR4C46 Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array rs61890419 8 128 0.0625 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4C46 His120Arg H120R not reviewed Insufficiently evaluated not reviewed unknown Array 18 128 0.140625 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - OR4C46 Leu185Ile L185I not reviewed Insufficiently evaluated not reviewed unknown Array rs61890422 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 2 N - - OR4C46 Leu211Phe L211F not reviewed Insufficiently evaluated not reviewed unknown Array 18 128 0.140625 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR4C46 Cys238Arg C238R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - OR4C46 Ser240Phe S240F not reviewed Insufficiently evaluated not reviewed unknown Array rs11246607 49 122 0.401639 28 0 40 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 1 N - - OR4C46 Cys252Tyr C252Y not reviewed Insufficiently evaluated not reviewed unknown Array rs72486126 48 120 0.4 27 0 39 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 1 N - - OR4C46 Lys288Arg K288R not reviewed Insufficiently evaluated not reviewed unknown Array rs11246609 74 116 0.637931 38 0 61 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR4C6 Ile133Thr I133T not reviewed Insufficiently evaluated not reviewed unknown Array rs11230600 31 128 0.242188 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.845 - - 3 - 0 N - - OR4C6 Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - OR4D1 Leu174Ile L174I not reviewed Insufficiently evaluated not reviewed unknown Array rs7218964 29 128 0.226562 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR4D1 Tyr218Stop Y218X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR4D10 Glu231Stop E231X not reviewed Insufficiently evaluated not reviewed unknown Array 539 10758 0.0501022 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR4D11 Asp84Tyr D84Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - OR4D11 Phe197Leu F197L not reviewed Insufficiently evaluated not reviewed unknown Array rs7120079 3173 10758 0.294943 32 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4D2 Arg21Gln R21Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73323532 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - OR4D2 Leu29Ile L29I not reviewed Insufficiently evaluated not reviewed unknown Array rs60994383 23 128 0.179688 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - OR4D2 Leu187Phe L187F not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 1 N - - OR4D2 Arg290Lys R290K not reviewed Insufficiently evaluated not reviewed unknown Array rs73993621 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.07 - - -3 - 0 N - - OR4D5 Arg233Cys R233C not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 6 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OR4D6 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array rs1453544 17 128 0.132812 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 1 N - - OR4D6 Asp96Gly D96G not reviewed Insufficiently evaluated not reviewed unknown Array rs1453543 110 128 0.859375 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR4D6 Phe102Ser F102S not reviewed Insufficiently evaluated not reviewed unknown Array rs17153770 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 1 N - - OR4D6 Asp111Ala D111A not reviewed Insufficiently evaluated not reviewed unknown Array rs17500380 6 128 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 3 - 2 - - OR4D6 Ser151Thr S151T not reviewed Insufficiently evaluated not reviewed unknown Array rs1453542 22 128 0.171875 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR4D6 Met263Thr M263T not reviewed Insufficiently evaluated not reviewed unknown Array rs1453541 32 128 0.25 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR4D9 Gln159Arg Q159R not reviewed Insufficiently evaluated not reviewed unknown Array rs17501584 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - OR4D9 Thr219Met T219M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4E2 Val118Met V118M not reviewed Insufficiently evaluated not reviewed unknown Array rs2874103 103 128 0.804688 49 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4E2 Ile185Val I185V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -4 - 2 N - - OR4E2 Gln234Arg Q234R not reviewed Insufficiently evaluated not reviewed unknown Array rs970382 99 124 0.798387 47 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4E2 Ser241Leu S241L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732411 24 128 0.1875 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - OR4F15 Ile45Thr I45T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737907 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.543 - - 3 - 2 - 1 - - OR4F4 Leu123Ile L123I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - OR4F5 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array rs2691305 5942 7722 0.76949 45 0 85 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4K1 Arg89His R89H not reviewed Insufficiently evaluated not reviewed unknown Array rs12885778 3636 10756 0.338044 36 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4K1 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3916626 400 10758 0.0371816 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4K1 Ser263Arg S263R not reviewed Insufficiently evaluated not reviewed unknown Array rs34608158 2099 10758 0.195111 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - OR4K1 Arg304Cys R304C not reviewed Insufficiently evaluated not reviewed unknown Array rs34394400 2692 10758 0.250232 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.32 - - 8 Y 0 N - - OR4K1 Arg304His R304H not reviewed Insufficiently evaluated not reviewed unknown Array rs2792146 4011 10758 0.372839 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4K13 Gln292Lys Q292K not reviewed Insufficiently evaluated not reviewed unknown Array rs17277025 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - OR4K14 Leu145Arg L145R not reviewed Insufficiently evaluated not reviewed unknown Array rs17308108 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 1 N - - OR4K14 Met119Val M119V not reviewed Insufficiently evaluated not reviewed unknown Array rs7157076 18 128 0.140625 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 1 N - - OR4K15 Asn89Ser N89S not reviewed Insufficiently evaluated not reviewed unknown Array rs4060024 44 116 0.37931 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.537 - - 0 - 0 N - - OR4K15 Glu112Val E112V not reviewed Insufficiently evaluated not reviewed unknown Array rs3861512 23 128 0.179688 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.076 - - 5 Y 0 N - - OR4K15 Ser117Ala S117A not reviewed Insufficiently evaluated not reviewed unknown Array rs3861513 23 128 0.179688 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 1 N - - OR4K15 Ala255Glu A255E not reviewed Insufficiently evaluated not reviewed unknown Array rs10135246 21 124 0.169355 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - OR4K15 Leu304Pro L304P not reviewed Insufficiently evaluated not reviewed unknown Array rs2153466 50 124 0.403226 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4K15 Ile310Met I310M not reviewed Insufficiently evaluated not reviewed unknown Array rs10135467 23 128 0.179688 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.979 - - -1 - 1 N - - OR4K15 Arg314Ser R314S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OR4K17 Leu3Val L3V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4K17 Lys159Asn K159N not reviewed Insufficiently evaluated not reviewed unknown Array rs8005245 4251 10758 0.395148 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR4K2 His54Leu H54L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.606 - - 6 Y 1 N - - OR4K2 Asn307Ile N307I not reviewed Insufficiently evaluated not reviewed unknown Array rs12883767 3579 10748 0.332992 34 0 37 0 0 - - - - - - - - - - - - - - - - 0.36 - - 7 Y 0 N - - OR4K5 His105Pro H105P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - OR4K5 Val281Ile V281I not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR4K5 Arg319Lys R319K not reviewed Insufficiently evaluated not reviewed unknown Array rs17242341 12 126 0.0952381 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.873 - - -3 - 1 N - - OR4L1 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array rs1958715 4699 10754 0.436954 41 0 57 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR4L1 Gly16Val G16V not reviewed Insufficiently evaluated not reviewed unknown Array rs45584133 748 10758 0.0695297 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.893 - - 8 Y 1 N - - OR4L1 Met40Val M40V not reviewed Insufficiently evaluated not reviewed unknown Array rs1958716 4713 10758 0.438093 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4L1 Arg52Ser R52S not reviewed Insufficiently evaluated not reviewed unknown Array rs1959630 10445 10758 0.970905 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4L1 Met101Lys M101K not reviewed Insufficiently evaluated not reviewed unknown Array rs2775253 3566 10758 0.331474 37 0 49 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 1 N - - OR4L1 Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array rs2775254 3631 10758 0.337516 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 1 N - - OR4L1 Ile160Thr I160T not reviewed Insufficiently evaluated not reviewed unknown Array rs45585336 902 10758 0.0838446 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - OR4M1 Thr116Ile T116I not reviewed Insufficiently evaluated not reviewed unknown Array rs2635535 25 116 0.215517 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.098 - - 3 - 0 N - - OR4M1 Gly232Asp G232D not reviewed Insufficiently evaluated not reviewed unknown Array rs2815960 23 110 0.209091 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - OR4M2 Phe94Leu F94L not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 1 N - - OR4M2 Gly96Glu G96E not reviewed Insufficiently evaluated not reviewed unknown Array rs1835183 74 124 0.596774 46 0 57 0 0 - - - - - - - - - - - - - - - - 0.548 - - 6 Y 0 N - - OR4M2 Arg128Stop R128X not reviewed Insufficiently evaluated not reviewed unknown Array 4 118 0.0338983 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR4M2 Ser202Cys S202C not reviewed Insufficiently evaluated not reviewed unknown Array 6 122 0.0491803 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.935 - - 3 - 2 N - - OR4M2 Phe225Leu F225L not reviewed Insufficiently evaluated not reviewed unknown Array rs491208 114 126 0.904762 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4M2 Thr235Ser T235S not reviewed Insufficiently evaluated not reviewed unknown Array rs28678403 5 124 0.0403226 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.347 - - -2 - 1 N - - OR4M2 Met239Val M239V not reviewed Insufficiently evaluated not reviewed unknown Array rs12593418 19 116 0.163793 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR4M2 Arg284His R284H not reviewed Insufficiently evaluated not reviewed unknown Array rs4087943 54 118 0.457627 40 0 48 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR4N2 Thr7Arg T7R not reviewed Insufficiently evaluated not reviewed unknown Array rs72663752 8 126 0.0634921 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - OR4N2 Ile76Thr I76T not reviewed Insufficiently evaluated not reviewed unknown Array rs2801164 38 102 0.372549 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - OR4N2 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 8 124 0.0645161 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 1 N - - OR4N2 Pro133Ser P133S not reviewed Insufficiently evaluated not reviewed unknown Array rs2318279 38 128 0.296875 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4N2 Val135Leu V135L not reviewed Insufficiently evaluated not reviewed unknown Array rs17114261 22 126 0.174603 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - OR4N4 Leu61Phe L61F not reviewed Insufficiently evaluated not reviewed unknown Array rs535034 29 102 0.284314 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4N4 Ala78Pro A78P not reviewed Insufficiently evaluated not reviewed unknown Array rs62006708 18 122 0.147541 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR4N4 Leu86Phe L86F not reviewed Insufficiently evaluated not reviewed unknown Array rs2808136 27 118 0.228814 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4N4 Val117Leu V117L not reviewed Insufficiently evaluated not reviewed unknown Array rs12438969 36 128 0.28125 27 0 28 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 1 N - - OR4N4 Ala119Asp A119D not reviewed Insufficiently evaluated not reviewed unknown Array rs62006709 24 126 0.190476 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - OR4N4 Cys132Tyr C132Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4N4 Tyr142Cys Y142C not reviewed Insufficiently evaluated not reviewed unknown Array rs62006710 15 116 0.12931 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - OR4N4 Leu198Ile L198I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.767 - - -2 - 1 N - - OR4N4 Arg226His R226H not reviewed Insufficiently evaluated not reviewed unknown Array rs74002754 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - OR4N4 Met259Ile M259I not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4N4 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - OR4N4 Asp311Asn D311N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4N5 Ala125Thr A125T not reviewed Insufficiently evaluated not reviewed unknown Array rs74033809 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 1 - 0 N - - OR4N5 His131Arg H131R not reviewed Insufficiently evaluated not reviewed unknown Array rs55660957 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 1 - 0 N - - OR4N5 Asn191Asp N191D not reviewed Insufficiently evaluated not reviewed unknown Array rs10131326 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - OR4N5 Ser234Thr S234T not reviewed Insufficiently evaluated not reviewed unknown Array rs10140908 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - OR4N5 Cys260Arg C260R not reviewed Insufficiently evaluated not reviewed unknown Array rs10134472 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - OR4N5 Arg290His R290H not reviewed Insufficiently evaluated not reviewed unknown Array rs10141025 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - OR4P4 Tyr63Stop Y63X not reviewed Insufficiently evaluated not reviewed unknown Array 23 118 0.194915 13 0 21 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR4P4 Arg231Cys R231C not reviewed Insufficiently evaluated not reviewed unknown Array rs61896975 5 118 0.0423729 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.272 - - 8 Y 1 N - - OR4P4 Ile243Met I243M not reviewed Insufficiently evaluated not reviewed unknown Array rs57403436 6 118 0.0508475 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR4P4 Tyr285Asp Y285D not reviewed Insufficiently evaluated not reviewed unknown Array rs73469483 5 118 0.0423729 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR4Q3 His52Tyr H52Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - OR4Q3 Leu105Ile L105I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 2 N - - OR4Q3 Met119Val M119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - OR4Q3 Thr135Ala T135A not reviewed Insufficiently evaluated not reviewed unknown Array rs17210864 13 124 0.104839 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - OR4Q3 Phe238Leu F238L not reviewed Insufficiently evaluated not reviewed unknown Array rs12896533 88 128 0.6875 50 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4S1 Met116Thr M116T not reviewed Insufficiently evaluated not reviewed unknown Array rs35930119 3 126 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - OR4S1 Asn289Asp N289D not reviewed Insufficiently evaluated not reviewed unknown Array rs61730866 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR4S2 Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array 264 10298 0.025636 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4S2 Phe105Ser F105S not reviewed Insufficiently evaluated not reviewed unknown Array rs11230541 1985 10290 0.192906 19 0 28 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - OR4S2 Val195Gly V195G not reviewed Insufficiently evaluated not reviewed unknown Array rs7949664 564 10300 0.0547573 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - OR4S2 Leu213Gln L213Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10270 0.006037 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 5 Y 1 N - - OR4X1 Arg144Gly R144G not reviewed Insufficiently evaluated not reviewed unknown Array rs1503193 121 122 0.991803 50 0 99 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR4X1 Pro165Leu P165L not reviewed Insufficiently evaluated not reviewed unknown Array rs16905753 28 128 0.21875 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.283 - - 7 Y 0 N - - OR4X1 Phe191Ile F191I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - 2 - 2 N - - OR4X1 Phe191Ser F191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - OR4X1 Phe192Ile F192I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - OR4X1 Ser225Asn S225N not reviewed Insufficiently evaluated not reviewed unknown Array rs61746892 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - OR4X1 Tyr273Stop Y273X not reviewed Insufficiently evaluated not reviewed unknown Array rs10838851 77 126 0.611111 43 0 64 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR4X1 Pro282Ser P282S not reviewed Insufficiently evaluated not reviewed unknown Array rs10838852 44 128 0.34375 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - OR4X2 Tyr27Stop Y27X not reviewed Insufficiently evaluated not reviewed unknown Array rs7120775 1924 10758 0.178844 21 0 23 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR51A2 Trp311Arg W311R not reviewed Insufficiently evaluated not reviewed unknown Array rs55827480 43 86 0.5 25 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR51A2 Lys289Asn K289N not reviewed Insufficiently evaluated not reviewed unknown Array rs2570573 49 86 0.569767 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR51A2 Gly267Arg G267R not reviewed Insufficiently evaluated not reviewed unknown Array rs56066301 50 104 0.480769 25 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR51A2 Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR51A2 Glu235Gln E235Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2570571 20 76 0.263158 8 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR51A2 Ser218Phe S218F not reviewed Insufficiently evaluated not reviewed unknown Array rs55889636 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.396 - - 5 Y 1 N - - OR51A2 Ser167Asn S167N not reviewed Insufficiently evaluated not reviewed unknown Array 24 60 0.4 14 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51A2 Arg166Thr R166T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 3 - 0 N - - OR51A2 Met120Val M120V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR51A2 Thr94Ile T94I not reviewed Insufficiently evaluated not reviewed unknown Array rs2595985 49 118 0.415254 28 0 42 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51A2 Gly59Glu G59E not reviewed Insufficiently evaluated not reviewed unknown Array rs1817206 75 124 0.604839 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR51A2 Lys52Asn K52N not reviewed Insufficiently evaluated not reviewed unknown Array rs35318834 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - OR51A2 Gly45Cys G45C not reviewed Insufficiently evaluated not reviewed unknown Array rs28482315 106 112 0.946429 45 0 86 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR51A4 Thr288Met T288M not reviewed Insufficiently evaluated not reviewed unknown Array rs28698374 100 106 0.943396 44 0 84 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR51A4 Arg267Gly R267G not reviewed Insufficiently evaluated not reviewed unknown Array rs2595988 6 110 0.0545455 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.24 - - 6 Y 1 - 5 - - OR51A4 Leu227Pro L227P not reviewed Insufficiently evaluated not reviewed unknown Array rs28673258 11 56 0.196429 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.614 - - 7 Y 0 N - - OR51A4 Asn167Ser N167S not reviewed Insufficiently evaluated not reviewed unknown Array rs2595987 5 88 0.0568182 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51A4 Arg142Ser R142S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 3 - 2 N - - OR51A4 Gly45Cys G45C not reviewed Insufficiently evaluated not reviewed unknown Array rs3845246 90 96 0.9375 42 0 79 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR51A7 Glu8Lys E8K not reviewed Insufficiently evaluated not reviewed unknown Array rs11034596 11 128 0.0859375 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR51A7 Met81Thr M81T not reviewed Insufficiently evaluated not reviewed unknown Array rs7108225 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 0 N - - OR51A7 Val196Ala V196A not reviewed Insufficiently evaluated not reviewed unknown Array rs7108654 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.87 - - 2 - 3 - 3 - - OR51B2 Ser312Arg S312R not reviewed Insufficiently evaluated not reviewed unknown Array rs11036814 1271 10758 0.118145 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51B2 Pro283Ser P283S not reviewed Insufficiently evaluated not reviewed unknown Array rs11036815 3141 10758 0.291969 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51B2 Cys209Ser C209S not reviewed Insufficiently evaluated not reviewed unknown Array rs7937237 9465 10758 0.87981 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51B2 Leu134Phe L134F not reviewed Insufficiently evaluated not reviewed unknown Array rs10837814 5706 10758 0.530396 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B2 Cys120Arg C120R not reviewed Insufficiently evaluated not reviewed unknown Array rs7952293 9468 10758 0.880089 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR51B2 Trp2Gly W2G not reviewed Insufficiently evaluated not reviewed unknown Array 73 10742 0.00679575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR51B4 Phe191Leu F191L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51B4 His173Asn H173N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51B4 Met147Thr M147T not reviewed Insufficiently evaluated not reviewed unknown Array rs10837771 49 128 0.382812 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR51B4 Val36Ile V36I not reviewed Insufficiently evaluated not reviewed unknown Array rs7118113 84 128 0.65625 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR51B5 Leu220Phe L220F not reviewed Insufficiently evaluated not reviewed unknown Array rs7120319 704 10758 0.0654397 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.072 - - 0 - 0 N - - OR51B5 Arg194Gln R194Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743611 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR51B5 Pro160Leu P160L not reviewed Insufficiently evaluated not reviewed unknown Array rs4910551 4159 10758 0.386596 33 0 38 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - OR51B5 Val154Ile V154I not reviewed Insufficiently evaluated not reviewed unknown Array rs12273630 1400 10758 0.130136 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - OR51B5 Ile102Thr I102T not reviewed Insufficiently evaluated not reviewed unknown Array rs11036912 4170 10758 0.387619 33 0 38 0 0 - - - - - - - - - - - - - - - - 0.908 - - 3 - 1 N - - OR51B5 Arg88Gly R88G not reviewed Insufficiently evaluated not reviewed unknown Array rs57900141 1468 10758 0.136457 15 0 17 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - OR51B5 Thr78Lys T78K not reviewed Insufficiently evaluated not reviewed unknown Array rs57273781 1382 10758 0.128463 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.283 - - 3 - 0 N - - OR51B5 Gly5Ser G5S not reviewed Insufficiently evaluated not reviewed unknown Array rs11036913 3695 10662 0.346558 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR51B6 Lys5Thr K5T not reviewed Insufficiently evaluated not reviewed unknown Array rs4910755 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51B6 Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array rs4910756 23 128 0.179688 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B6 Ile90Thr I90T not reviewed Insufficiently evaluated not reviewed unknown Array rs7483122 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51B6 Cys120Arg C120R not reviewed Insufficiently evaluated not reviewed unknown Array 17 128 0.132812 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR51B6 Thr123Ala T123A not reviewed Insufficiently evaluated not reviewed unknown Array rs5006889 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR51B6 Arg125His R125H not reviewed Insufficiently evaluated not reviewed unknown Array rs7479477 31 128 0.242188 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR51B6 Ser126Asn S126N not reviewed Insufficiently evaluated not reviewed unknown Array rs5006888 78 128 0.609375 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B6 Thr131Ile T131I not reviewed Insufficiently evaluated not reviewed unknown Array rs5006887 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51B6 Arg145Gly R145G not reviewed Insufficiently evaluated not reviewed unknown Array rs5006886 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR51B6 Ser169Ala S169A not reviewed Insufficiently evaluated not reviewed unknown Array rs5006885 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR51B6 Leu172Phe L172F not reviewed Insufficiently evaluated not reviewed unknown Array rs5006884 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B6 Phe192Leu F192L not reviewed Insufficiently evaluated not reviewed unknown Array rs5006883 23 128 0.179688 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B6 Val254Leu V254L not reviewed Insufficiently evaluated not reviewed unknown Array rs7106330 19 128 0.148438 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B6 Ser275Arg S275R not reviewed Insufficiently evaluated not reviewed unknown Array rs5024042 31 128 0.242188 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51D1 Ile89Val I89V not reviewed Insufficiently evaluated not reviewed unknown Array rs905871 16 128 0.125 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR51D1 Arg135His R135H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745314 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR51E1 Lys167Gln K167Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR51F1 Asp294Tyr D294Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1030726 42 128 0.328125 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR51F1 Ala251Val A251V not reviewed Insufficiently evaluated not reviewed unknown Array rs17324609 15 128 0.117188 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR51F1 Ser226Phe S226F not reviewed Insufficiently evaluated not reviewed unknown Array rs1030723 26 128 0.203125 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR51F1 His225Arg H225R not reviewed Insufficiently evaluated not reviewed unknown Array rs11033793 24 128 0.1875 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR51F1 Val156Ile V156I not reviewed Insufficiently evaluated not reviewed unknown Array rs74052100 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR51F1 Arg67Met R67M not reviewed Insufficiently evaluated not reviewed unknown Array rs11033800 42 128 0.328125 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR51F1 Phe66Ser F66S not reviewed Insufficiently evaluated not reviewed unknown Array rs11033801 42 128 0.328125 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR51F1 Thr13Ala T13A not reviewed Insufficiently evaluated not reviewed unknown Array rs17324812 18 126 0.142857 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR51F2 Asp84Gly D84G not reviewed Insufficiently evaluated not reviewed unknown Array rs35003053 17 128 0.132812 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.989 - - 4 Y 1 N - - OR51F2 Val262Leu V262L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - OR51G1 Gln303His Q303H not reviewed Insufficiently evaluated not reviewed unknown Array rs57920748 3 128 0.0234375 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - OR51G1 Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51G1 Ile195Thr I195T not reviewed Insufficiently evaluated not reviewed unknown Array rs12796015 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51G1 Tyr125Ser Y125S not reviewed Insufficiently evaluated not reviewed unknown Array rs1378739 83 128 0.648438 47 0 69 0 0 - - - - - - - - - - - - - - - - 0.967 - - 5 Y 1 N - - OR51G1 Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array rs34742470 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 1 N - - OR51G1 Ser114Leu S114L not reviewed Insufficiently evaluated not reviewed unknown Array rs10836954 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR51G1 Glu113Lys E113K not reviewed Insufficiently evaluated not reviewed unknown Array rs35264256 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 - 1 - - OR51G1 Met112Val M112V not reviewed Insufficiently evaluated not reviewed unknown Array rs35666095 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 1 - 1 - - OR51G2 Pro165Ser P165S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747513 496 10758 0.0461052 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - OR51G2 Glu96Gln E96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12419598 942 10758 0.0875627 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.292 - - -2 - 0 N - - OR51G2 Ala94Glu A94E not reviewed Insufficiently evaluated not reviewed unknown Array rs16907312 1877 10758 0.174475 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - OR51G2 Arg58His R58H not reviewed Insufficiently evaluated not reviewed unknown Array rs60718970 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - OR51I1 Gly304Ala G304A not reviewed Insufficiently evaluated not reviewed unknown Array 11 128 0.0859375 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - OR51I1 Ala252Ser A252S not reviewed Insufficiently evaluated not reviewed unknown Array rs1498486 51 128 0.398438 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.278 - - -1 - 0 N - - OR51I1 Thr214Ala T214A not reviewed Insufficiently evaluated not reviewed unknown Array rs60832895 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR51I1 Val164Leu V164L not reviewed Insufficiently evaluated not reviewed unknown Array rs11037445 22 128 0.171875 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51I1 Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array rs16930982 10 128 0.078125 6 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - OR51I1 Gln15Stop Q15X not reviewed Insufficiently evaluated not reviewed unknown Array rs16930998 10 128 0.078125 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR51I2 Met59Thr M59T not reviewed Insufficiently evaluated not reviewed unknown Array rs74049540 9 128 0.0703125 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 1 N - - OR51I2 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array rs10450603 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 3 - 2 - - OR51I2 Thr134Ala T134A not reviewed Insufficiently evaluated not reviewed unknown Array rs12577167 18 128 0.140625 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.361 - - 1 - 0 N - - OR51I2 Arg151Pro R151P not reviewed Insufficiently evaluated not reviewed unknown Array rs16931292 12 126 0.0952381 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - OR51I2 Arg263His R263H not reviewed Insufficiently evaluated not reviewed unknown Array rs11037502 13 128 0.101562 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - OR51L1 Thr196Ile T196I not reviewed Insufficiently evaluated not reviewed unknown Array rs10768448 39 128 0.304688 29 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51L1 Ala207Val A207V not reviewed Insufficiently evaluated not reviewed unknown Array rs10768450 39 128 0.304688 29 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR51L1 Asn241Tyr N241Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61729748 2 128 0.015625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - OR51L1 Ile281Met I281M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734126 11 126 0.0873016 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - OR51M1 His102Gln H102Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1498467 87 128 0.679688 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR51M1 Leu135Phe L135F not reviewed Insufficiently evaluated not reviewed unknown Array rs1498468 87 128 0.679688 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51M1 Ile204Thr I204T not reviewed Insufficiently evaluated not reviewed unknown Array rs1498469 90 128 0.703125 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51M1 Pro256His P256H not reviewed Insufficiently evaluated not reviewed unknown Array rs9783355 90 128 0.703125 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR51M1 Leu257Arg L257R not reviewed Insufficiently evaluated not reviewed unknown Array rs2736531 43 128 0.335938 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR51M1 Lys317Asn K317N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51M1 Phe318Leu F318L not reviewed Insufficiently evaluated not reviewed unknown Array rs10768906 90 128 0.703125 49 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51Q1 Thr146Ile T146I not reviewed Insufficiently evaluated not reviewed unknown Array rs10838092 44 126 0.349206 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR51Q1 Cys153Arg C153R not reviewed Insufficiently evaluated not reviewed unknown Array rs10838093 45 128 0.351562 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - OR51Q1 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array rs10838094 45 128 0.351562 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR51Q1 Arg178His R178H not reviewed Insufficiently evaluated not reviewed unknown Array rs10838095 45 128 0.351562 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR51Q1 Tyr180Ser Y180S not reviewed Insufficiently evaluated not reviewed unknown Array rs58283839 11 128 0.0859375 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - OR51Q1 Leu204Phe L204F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - OR51Q1 Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array rs2736586 45 128 0.351562 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51Q1 Arg236Stop R236X not reviewed Insufficiently evaluated not reviewed unknown Array rs2647574 43 124 0.346774 29 0 36 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR51Q1 Phe308Ser F308S not reviewed Insufficiently evaluated not reviewed unknown Array rs2647573 44 126 0.349206 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR51S1 Leu264Phe L264F not reviewed Insufficiently evaluated not reviewed unknown Array rs12361955 45 128 0.351562 33 0 41 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR51S1 Leu216Ser L216S not reviewed Insufficiently evaluated not reviewed unknown Array rs57238061 12 128 0.09375 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 1 N - - OR51S1 Tyr186Cys Y186C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR51S1 Leu178Arg L178R not reviewed Insufficiently evaluated not reviewed unknown Array rs7117260 74 128 0.578125 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR51S1 Gln60Glu Q60E not reviewed Insufficiently evaluated not reviewed unknown Array rs11602499 37 128 0.289062 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR51S1 Ile57Asn I57N not reviewed Insufficiently evaluated not reviewed unknown Array rs12417164 19 128 0.148438 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 1 N - - OR51S1 Thr52Ser T52S not reviewed Insufficiently evaluated not reviewed unknown Array rs35918613 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.536 - - -2 - 0 N - - OR51V1 Leu267Phe L267F not reviewed Insufficiently evaluated not reviewed unknown Array rs61736992 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - OR51V1 Ser233Leu S233L not reviewed Insufficiently evaluated not reviewed unknown Array rs7933549 6 128 0.046875 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.292 - - 6 Y 1 N - - OR51V1 Phe163Leu F163L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR51V1 Ser161Asn S161N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732434 3 128 0.0234375 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - OR51V1 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs11512276 35 128 0.273438 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 1 N - - OR51V1 Gly96Trp G96W not reviewed Insufficiently evaluated not reviewed unknown Array rs11512276 48 128 0.375 23 0 31 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 1 N - - OR51V1 Pro62Leu P62L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - OR51V1 Leu36Phe L36F not reviewed Insufficiently evaluated not reviewed unknown Array rs11036212 83 128 0.648438 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR52A1 Ser272Pro S272P not reviewed Insufficiently evaluated not reviewed unknown Array rs10768611 126 128 0.984375 53 0 104 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR52A1 Val151Leu V151L not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR52A4 Thr303Ala T303A not reviewed Insufficiently evaluated not reviewed unknown Array rs10837374 8322 10758 0.773564 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52A4 Cys277Arg C277R not reviewed Insufficiently evaluated not reviewed unknown Array rs4426129 8208 10758 0.762967 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR52A4 Tyr180Ser Y180S not reviewed Insufficiently evaluated not reviewed unknown Array rs10837375 8204 10758 0.762595 52 0 81 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR52A4 Asp87Gly D87G not reviewed Insufficiently evaluated not reviewed unknown Array rs7947334 4206 10758 0.390965 40 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR52A5 Ile306Val I306V not reviewed Insufficiently evaluated not reviewed unknown Array rs74051326 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52A5 Arg303Cys R303C not reviewed Insufficiently evaluated not reviewed unknown Array rs74051330 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - OR52A5 Ile158Thr I158T not reviewed Insufficiently evaluated not reviewed unknown Array rs73396832 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52A5 Pro2Leu P2L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR52B2 Phe105Tyr F105Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16909422 9 128 0.0703125 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 3 - - OR52B4 Ile216Thr I216T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732898 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - OR52B6 Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array rs1077126 62 128 0.484375 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52B6 Leu111His L111H not reviewed Insufficiently evaluated not reviewed unknown Array rs2341432 82 126 0.650794 42 0 69 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR52B6 Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array rs2341433 62 128 0.484375 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52B6 His170Arg H170R not reviewed Insufficiently evaluated not reviewed unknown Array rs2341434 81 126 0.642857 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52B6 Leu275Ile L275I not reviewed Insufficiently evaluated not reviewed unknown Array rs74053516 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR52B6 Val288Ile V288I not reviewed Insufficiently evaluated not reviewed unknown Array rs10769086 113 128 0.882812 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52D1 Arg154Cys R154C not reviewed Insufficiently evaluated not reviewed unknown Array rs7935144 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 4 - - OR52D1 Ala206Val A206V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - OR52D1 Asp213Glu D213E not reviewed Insufficiently evaluated not reviewed unknown Array rs7924754 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 3 - 4 - - OR52D1 Tyr221Phe Y221F not reviewed Insufficiently evaluated not reviewed unknown Array rs7950082 16 128 0.125 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 1 N - - OR52D1 Ile251Thr I251T not reviewed Insufficiently evaluated not reviewed unknown Array rs7101919 27 128 0.210938 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - OR52E2 Arg264Cys R264C not reviewed Insufficiently evaluated not reviewed unknown Array rs2500052 67 128 0.523438 42 0 56 0 0 - - - - - - - - - - - - - - - - 0.536 - - 8 Y 0 N - - OR52E2 His174Arg H174R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746343 27 128 0.210938 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - OR52E2 Arg167Trp R167W not reviewed Insufficiently evaluated not reviewed unknown Array rs11035396 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - OR52E2 Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - OR52E2 Asn5Ser N5S not reviewed Insufficiently evaluated not reviewed unknown Array rs16909440 39 128 0.304688 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - OR52E4 Val176Ile V176I not reviewed Insufficiently evaluated not reviewed unknown Array rs4758168 99 128 0.773438 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52E4 Arg184Met R184M not reviewed Insufficiently evaluated not reviewed unknown Array rs4757986 99 128 0.773438 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR52E4 Phe227Leu F227L not reviewed Insufficiently evaluated not reviewed unknown Array rs11823828 45 128 0.351562 30 0 38 0 0 - - - - - - - - - - - - - - - - 0.844 - - 0 - 0 N - - OR52E4 Arg228His R228H not reviewed Insufficiently evaluated not reviewed unknown Array rs4757987 54 128 0.421875 39 0 49 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR52E4 Phe257Leu F257L not reviewed Insufficiently evaluated not reviewed unknown Array rs11823842 45 128 0.351562 30 0 38 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR52E6 Met199Arg M199R not reviewed Insufficiently evaluated not reviewed unknown Array rs10742809 40 128 0.3125 31 0 34 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - OR52E6 Ile159Val I159V not reviewed Insufficiently evaluated not reviewed unknown Array rs4357719 50 128 0.390625 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52E6 Trp133Arg W133R not reviewed Insufficiently evaluated not reviewed unknown Array rs10838719 47 128 0.367188 36 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR52E6 Ser95Pro S95P not reviewed Insufficiently evaluated not reviewed unknown Array rs4592451 50 128 0.390625 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 0 N - - OR52E6 Cys64Phe C64F not reviewed Insufficiently evaluated not reviewed unknown Array rs4495918 50 128 0.390625 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR52E6 Phe48Leu F48L not reviewed Insufficiently evaluated not reviewed unknown Array rs10769272 50 128 0.390625 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR52E6 Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array rs4362173 50 128 0.390625 35 0 43 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52E8 Leu292Phe L292F not reviewed Insufficiently evaluated not reviewed unknown Array rs61059077 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - OR52E8 Ile33Phe I33F not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - OR52H1 Met283Thr M283T not reviewed Insufficiently evaluated not reviewed unknown Array rs7934354 19 128 0.148438 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.769 - - 2 - 0 N - - OR52H1 Cys242Arg C242R not reviewed Insufficiently evaluated not reviewed unknown Array rs1995158 115 128 0.898438 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR52H1 Gly235Cys G235C not reviewed Insufficiently evaluated not reviewed unknown Array rs1995157 55 128 0.429688 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR52H1 His130Arg H130R not reviewed Insufficiently evaluated not reviewed unknown Array rs1566275 115 128 0.898438 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52H1 Cys105Phe C105F not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - OR52H1 Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array rs10769054 56 128 0.4375 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52H1 Val45Ala V45A not reviewed Insufficiently evaluated not reviewed unknown Array rs56291963 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - OR52I1 Thr41Ile T41I not reviewed Insufficiently evaluated not reviewed unknown Array rs2010722 112 128 0.875 49 0 88 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR52I1 Gly45Stop G45X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR52I1 Leu201Val L201V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - OR52I1 Gly246Val G246V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 2 N - - OR52I1 Ala265Val A265V not reviewed Insufficiently evaluated not reviewed unknown Array rs61997187 7 128 0.0546875 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR52I2 Leu25Pro L25P not reviewed Insufficiently evaluated not reviewed unknown Array rs7128702 17 128 0.132812 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR52I2 Ile67Thr I67T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744242 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR52I2 Ile74Leu I74L not reviewed Insufficiently evaluated not reviewed unknown Array rs12793957 19 120 0.158333 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - OR52I2 Thr167Met T167M not reviewed Insufficiently evaluated not reviewed unknown Array rs1847632 31 100 0.31 16 0 22 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - OR52J3 Thr77Ala T77A not reviewed Insufficiently evaluated not reviewed unknown Array rs2500016 64 128 0.5 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52J3 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array rs2500017 64 128 0.5 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52J3 Gln141Leu Q141L not reviewed Insufficiently evaluated not reviewed unknown Array rs2500018 64 128 0.5 41 0 53 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR52J3 Cys181Tyr C181Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58664826 13 128 0.101562 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR52J3 Val226Ile V226I not reviewed Insufficiently evaluated not reviewed unknown Array rs17350764 29 128 0.226562 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR52J3 Arg228Cys R228C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - OR52J3 Arg303Stop R303X not reviewed Insufficiently evaluated not reviewed unknown Array rs2500019 14 128 0.109375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR52K1 Gln52Arg Q52R not reviewed Insufficiently evaluated not reviewed unknown Array rs96489 3979 10758 0.369864 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR52K1 Arg153Trp R153W not reviewed Insufficiently evaluated not reviewed unknown Array rs331510 2143 10758 0.199201 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - OR52K2 Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array rs331537 2382 10758 0.221417 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 1 N - - OR52K2 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array rs7934336 1354 10758 0.12586 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - OR52L1 Trp297Arg W297R not reviewed Insufficiently evaluated not reviewed unknown Array rs4237768 8447 10410 0.811431 56 0 94 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - OR52L1 Lys183Thr K183T not reviewed Insufficiently evaluated not reviewed unknown Array rs4354673 7111 10080 0.705456 48 0 77 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - OR52L1 Cys161Arg C161R not reviewed Insufficiently evaluated not reviewed unknown Array rs4436524 7560 10186 0.742195 45 0 75 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - OR52L1 Cys161Ser C161S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 2 - 5 - - OR52L1 Cys140Arg C140R not reviewed Insufficiently evaluated not reviewed unknown Array rs4436525 7722 10254 0.753072 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR52L1 Ser130Leu S130L not reviewed Insufficiently evaluated not reviewed unknown Array rs61750896 1120 10422 0.107465 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 1 N - - OR52L1 Ala96Val A96V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - 2 - 3 - 1 - - OR52L1 Asp88Asn D88N not reviewed Insufficiently evaluated not reviewed unknown Array rs4501959 1473 10444 0.141038 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 1 N - - OR52M1 Ser9Leu S9L not reviewed Insufficiently evaluated not reviewed unknown Array rs7112010 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 6 - - OR52M1 Arg298His R298H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - OR52M1 Ser305Arg S305R not reviewed Insufficiently evaluated not reviewed unknown Array rs2657167 47 128 0.367188 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR52N1 His269Arg H269R not reviewed Insufficiently evaluated not reviewed unknown Array 7 124 0.0564516 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - OR52N1 Phe247Ile F247I not reviewed Insufficiently evaluated not reviewed unknown Array rs7934670 116 120 0.966667 49 0 95 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR52N1 Arg167Cys R167C not reviewed Insufficiently evaluated not reviewed unknown Array rs7948009 66 128 0.515625 33 0 51 0 0 - - - - - - - - - - - - - - - - 0.073 - - 8 Y 0 N - - OR52N1 Cys125Tyr C125Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10769224 45 128 0.351562 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR52N1 Thr108Ile T108I not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.242 - - 3 - 0 N - - OR52N1 Ala101Thr A101T not reviewed Insufficiently evaluated not reviewed unknown Array rs10742787 45 128 0.351562 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52N1 Thr79Asn T79N not reviewed Insufficiently evaluated not reviewed unknown Array rs12365487 15 128 0.117188 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.634 - - 1 - 0 N - - OR52N2 Glu23Gly E23G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - OR52N2 Gly46Arg G46R not reviewed Insufficiently evaluated not reviewed unknown Array rs73394370 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - OR52N2 Pro60Ser P60S not reviewed Insufficiently evaluated not reviewed unknown Array rs73394373 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.457 - - 3 - 0 N - - OR52N2 Ala121Thr A121T not reviewed Insufficiently evaluated not reviewed unknown Array rs73394377 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.817 - - 1 - 0 N - - OR52N2 Met228Thr M228T not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.468 - - 2 - 0 N - - OR52N2 Ser249Ala S249A not reviewed Insufficiently evaluated not reviewed unknown Array rs8181529 69 128 0.539062 43 0 56 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR52N2 Val255Gly V255G not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.672 - - 8 Y 1 N - - OR52N2 His264Arg H264R not reviewed Insufficiently evaluated not reviewed unknown Array rs8181512 60 128 0.46875 39 0 52 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - OR52N2 Asn273Lys N273K not reviewed Insufficiently evaluated not reviewed unknown Array rs62621415 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR52N4 Thr106Ile T106I not reviewed Insufficiently evaluated not reviewed unknown Array rs7936512 10193 10758 0.947481 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR52N4 Leu167Arg L167R not reviewed Insufficiently evaluated not reviewed unknown Array rs7394584 9852 10730 0.918173 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR52N4 Arg172Stop R172X not reviewed Insufficiently evaluated not reviewed unknown Array rs4910844 2199 10700 0.205514 18 0 20 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR52N4 Trp209Gly W209G not reviewed Insufficiently evaluated not reviewed unknown Array rs12363178 1836 10656 0.172297 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR52N4 Asn218Ile N218I not reviewed Insufficiently evaluated not reviewed unknown Array rs7396938 9806 10630 0.922484 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR52N5 Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array rs12360738 17 122 0.139344 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - OR52R1 Ser324Ala S324A not reviewed Insufficiently evaluated not reviewed unknown Array rs2053116 60 128 0.46875 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR52R1 Asn280Tyr N280Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6578533 60 128 0.46875 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR52R1 Arg278His R278H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR52R1 Ile276Val I276V not reviewed Insufficiently evaluated not reviewed unknown Array rs73403015 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR52R1 Ile208Thr I208T not reviewed Insufficiently evaluated not reviewed unknown Array rs7941731 60 128 0.46875 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR52R1 Phe167Leu F167L not reviewed Insufficiently evaluated not reviewed unknown Array rs17327254 11 128 0.0859375 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR52R1 Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR52R1 Ser79Cys S79C not reviewed Insufficiently evaluated not reviewed unknown Array rs73403017 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52R1 Asn7Ser N7S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR52W1 Leu87Pro L87P not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR52W1 His239Arg H239R not reviewed Insufficiently evaluated not reviewed unknown Array rs10839531 84 128 0.65625 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52W1 His239Pro H239P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - OR52W1 Ser248Phe S248F not reviewed Insufficiently evaluated not reviewed unknown Array rs73392966 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR52W1 Leu254Gln L254Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11040799 75 128 0.585938 37 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR52W1 Thr266Ala T266A not reviewed Insufficiently evaluated not reviewed unknown Array rs325609 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR56A3 Met51Thr M51T not reviewed Insufficiently evaluated not reviewed unknown Array rs1840178 70 128 0.546875 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR56A4 Ile247Val I247V not reviewed Insufficiently evaluated not reviewed unknown Array rs11040249 18 128 0.140625 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR56A5 Pro273Leu P273L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - OR56A5 Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array rs7114672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR56A5 Val104Leu V104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR56B1 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - -4 - 2 N - - OR56B1 Cys106Arg C106R not reviewed Insufficiently evaluated not reviewed unknown Array rs7397032 8561 10758 0.79578 48 0 78 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - OR56B1 Leu214Phe L214F not reviewed Insufficiently evaluated not reviewed unknown Array rs62621167 438 10758 0.0407139 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR56B4 His250Tyr H250Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58431577 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR56B4 Pro277Ser P277S not reviewed Insufficiently evaluated not reviewed unknown Array rs1462983 57 128 0.445312 29 0 41 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 1 N - - OR5A1 Asp183Asn D183N not reviewed Insufficiently evaluated not reviewed unknown Array rs6591536 6489 10758 0.603179 45 0 65 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 1 N - - OR5A2 Pro172Leu P172L not reviewed Insufficiently evaluated not reviewed unknown Array rs1453547 19 128 0.148438 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - OR5A2 Phe103Leu F103L not reviewed Insufficiently evaluated not reviewed unknown Array rs17153691 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 3 - - OR5AC2 Asn53Lys N53K not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR5AC2 Ala97Pro A97P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - OR5AC2 Met200Ile M200I not reviewed Insufficiently evaluated not reviewed unknown Array rs4518168 58 126 0.460317 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR5AK2 Gly4Val G4V not reviewed Insufficiently evaluated not reviewed unknown Array rs10896563 18 128 0.140625 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - OR5AK2 Ser43Thr S43T not reviewed Insufficiently evaluated not reviewed unknown Array rs12420424 5 128 0.0390625 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR5AK2 Met92Ile M92I not reviewed Insufficiently evaluated not reviewed unknown Array rs2853083 94 128 0.734375 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR5AK2 His176Arg H176R not reviewed Insufficiently evaluated not reviewed unknown Array rs62001000 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR5AN1 Gly162Ala G162A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR5AN1 Leu289Phe L289F not reviewed Insufficiently evaluated not reviewed unknown Array rs7941190 84 128 0.65625 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 1 N - - OR5AP2 Ala105Thr A105T not reviewed Insufficiently evaluated not reviewed unknown Array rs11606499 1986 10758 0.184607 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR5AR1 Gln19Stop Q19X not reviewed Insufficiently evaluated not reviewed unknown Array rs11228710 68 126 0.539683 38 0 56 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR5AR1 Cys169Tyr C169Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 6 Y 2 N - - OR5AR1 Ile225Val I225V not reviewed Insufficiently evaluated not reviewed unknown Array rs56067375 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.148 - - -4 - 0 N - - OR5AS1 Cys73Phe C73F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR5AS1 Arg122Leu R122L not reviewed Insufficiently evaluated not reviewed unknown Array rs12224086 14 128 0.109375 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - OR5AS1 Glu306Gly E306G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 0 N - - OR5AS1 Tyr310Cys Y310C not reviewed Insufficiently evaluated not reviewed unknown Array rs17600939 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5AU1 Val335Met V335M not reviewed Insufficiently evaluated not reviewed unknown Array rs61755187 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5AU1 Ile299Val I299V not reviewed Insufficiently evaluated not reviewed unknown Array rs7145814 96 128 0.75 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR5AU1 Asn274Lys N274K not reviewed Insufficiently evaluated not reviewed unknown Array rs57985939 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR5AU1 Pro234Leu P234L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734144 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR5AU1 Ser194Leu S194L not reviewed Insufficiently evaluated not reviewed unknown Array rs59120409 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - OR5AU1 Ala170Val A170V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744073 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - OR5AU1 Leu117Phe L117F not reviewed Insufficiently evaluated not reviewed unknown Array rs4982419 87 126 0.690476 44 0 68 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 1 N - - OR5AU1 Val80Met V80M not reviewed Insufficiently evaluated not reviewed unknown Array rs17102042 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5B12 Cys141Tyr C141Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 6 Y 2 N - - OR5B12 Cys141Arg C141R not reviewed Insufficiently evaluated not reviewed unknown Array rs4938895 108 128 0.84375 40 0 80 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - OR5B12 Asp87Glu D87E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - OR5B17 Tyr308Cys Y308C not reviewed Insufficiently evaluated not reviewed unknown Array rs4127353 101 128 0.789062 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5B17 Tyr257His Y257H not reviewed Insufficiently evaluated not reviewed unknown Array rs55810057 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - OR5B17 Ile244Thr I244T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741322 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR5B17 Leu80Ile L80I not reviewed Insufficiently evaluated not reviewed unknown Array rs4939208 97 126 0.769841 49 0 83 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR5B17 Asn17Ser N17S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741317 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR5B2 Lys307Asn K307N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR5B2 Val208Ala V208A not reviewed Insufficiently evaluated not reviewed unknown Array rs10466659 20 128 0.15625 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR5B2 Met200Thr M200T not reviewed Insufficiently evaluated not reviewed unknown Array rs4298923 55 126 0.436508 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.048 - - 2 - 0 N - - OR5B2 Thr192Ser T192S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - OR5B21 Tyr309Cys Y309C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - OR5B21 Ser272Tyr S272Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58454093 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 3 - 2 - - OR5B3 Lys296Arg K296R not reviewed Insufficiently evaluated not reviewed unknown Array rs12279895 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - OR5B3 Gly247Ala G247A not reviewed Insufficiently evaluated not reviewed unknown Array rs11229409 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR5B3 Ile198Val I198V not reviewed Insufficiently evaluated not reviewed unknown Array rs11229410 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR5B3 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array rs11229411 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - OR5B3 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array rs12280114 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.186 - - 0 - 0 N - - OR5B3 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR5B3 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array rs12284790 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR5B3 Trp49Arg W49R not reviewed Insufficiently evaluated not reviewed unknown Array rs11229413 30 128 0.234375 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 0 N - - OR5C1 Ala14Ser A14S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - OR5D13 Cys62Tyr C62Y not reviewed Insufficiently evaluated not reviewed unknown Array rs297118 122 126 0.968254 52 0 101 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5D13 Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array rs11230983 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.07 - - 1 - 0 N - - OR5D13 Arg236Leu R236L not reviewed Insufficiently evaluated not reviewed unknown Array rs7124871 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.355 - - 6 Y 1 N - - OR5D14 Met2Val M2V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5D14 Val32Gly V32G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.206 - - 8 Y 2 - 2 - - OR5D14 Gln102Leu Q102L not reviewed Insufficiently evaluated not reviewed unknown Array 17 122 0.139344 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - OR5D14 Gly191Ser G191S not reviewed Insufficiently evaluated not reviewed unknown Array rs68042892 17 128 0.132812 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR5D14 Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array rs67863827 11 126 0.0873016 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - OR5D14 Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array rs61896309 5 122 0.0409836 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.093 - - 1 - 0 N - - OR5D14 Ser249Ala S249A not reviewed Insufficiently evaluated not reviewed unknown Array rs297054 118 122 0.967213 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR5D14 Thr272Lys T272K not reviewed Insufficiently evaluated not reviewed unknown Array rs61896310 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - OR5D14 Leu290Pro L290P not reviewed Insufficiently evaluated not reviewed unknown Array rs297055 33 128 0.257812 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 1 N - - OR5D16 Met82Thr M82T not reviewed Insufficiently evaluated not reviewed unknown Array rs62001008 7 128 0.0546875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - OR5D16 Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array rs6591700 19 128 0.148438 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR5D16 Ser277Phe S277F not reviewed Insufficiently evaluated not reviewed unknown Array rs61896326 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.174 - - 5 Y 0 N - - OR5D18 Tyr36Cys Y36C not reviewed Insufficiently evaluated not reviewed unknown Array rs7948629 5 128 0.0390625 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - OR5D18 Val118Met V118M not reviewed Insufficiently evaluated not reviewed unknown Array rs11231180 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 1 - 5 - - OR5D18 Asn136Asp N136D not reviewed Insufficiently evaluated not reviewed unknown Array rs297081 120 120 1 49 0 98 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - OR5D18 His270Arg H270R not reviewed Insufficiently evaluated not reviewed unknown Array rs55832853 26 126 0.206349 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 1 N - - OR5F1 Ser294Asn S294N not reviewed Insufficiently evaluated not reviewed unknown Array rs2449134 125 128 0.976562 53 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5F1 Met284Thr M284T not reviewed Insufficiently evaluated not reviewed unknown Array rs66470326 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - OR5F1 Ala274Val A274V not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - OR5F1 Cys255Ser C255S not reviewed Insufficiently evaluated not reviewed unknown Array rs58625186 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR5F1 Thr192Ala T192A not reviewed Insufficiently evaluated not reviewed unknown Array rs35607186 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - OR5H1 Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.66 - - 1 - 1 N - - OR5H1 Ile153Leu I153L not reviewed Insufficiently evaluated not reviewed unknown Array rs9845327 56 102 0.54902 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR5H1 Thr181Ile T181I not reviewed Insufficiently evaluated not reviewed unknown Array rs9826076 30 54 0.555556 19 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5H1 Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array rs72926074 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR5H1 Ser230Thr S230T not reviewed Insufficiently evaluated not reviewed unknown Array rs9849637 28 128 0.21875 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.972 - - -2 - 1 N - - OR5H14 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR5H14 Gly64Arg G64R not reviewed Insufficiently evaluated not reviewed unknown Array rs4241468 6306 10758 0.586168 45 0 62 0 0 - - - - - - - - - - - - - - - - 0.956 - - 6 Y 1 N - - OR5H14 Asn65Asp N65D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 1 N - - OR5H14 Gly152Arg G152R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR5H14 Tyr189Cys Y189C not reviewed Insufficiently evaluated not reviewed unknown Array rs4857076 6816 10744 0.634401 46 0 69 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5H14 Met234Ile M234I not reviewed Insufficiently evaluated not reviewed unknown Array 352 10756 0.0327259 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - OR5H14 Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array 344 10756 0.0319821 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.476 - - 1 - 1 N - - OR5H14 Asn294Lys N294K not reviewed Insufficiently evaluated not reviewed unknown Array 328 10742 0.0305344 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - OR5H14 Ala299Val A299V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10742 0.00186185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5H15 Phe85Ser F85S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - OR5H15 Val108Ile V108I not reviewed Insufficiently evaluated not reviewed unknown Array rs4133320 66 126 0.52381 45 0 58 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - OR5H15 Ser148Thr S148T not reviewed Insufficiently evaluated not reviewed unknown Array rs4133321 52 106 0.490566 38 0 48 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - OR5H15 Thr167Ser T167S not reviewed Insufficiently evaluated not reviewed unknown Array rs4133322 9 36 0.25 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.111 - - -2 - 0 N - - OR5H15 Gln207Lys Q207K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - OR5H15 Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array rs13082608 32 124 0.258065 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - OR5H15 Val299Leu V299L not reviewed Insufficiently evaluated not reviewed unknown Array rs72487748 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR5H2 Glu16Gln E16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72487753 1427 10758 0.132645 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - OR5H2 Ile230Val I230V not reviewed Insufficiently evaluated not reviewed unknown Array rs16839214 1427 10758 0.132645 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR5H2 Phe282Ser F282S not reviewed Insufficiently evaluated not reviewed unknown Array rs72934925 91 10756 0.00846039 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - OR5H2 Ile286Val I286V not reviewed Insufficiently evaluated not reviewed unknown Array rs16839611 4005 10756 0.37235 40 0 57 0 0 - - - - - - - - - - - - - - - - 0.719 - - -4 - 0 N - - OR5H6 Ala46Glu A46E not reviewed Insufficiently evaluated not reviewed unknown Array rs4241472 731 10756 0.0679621 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - OR5H6 Ser88Trp S88W not reviewed Insufficiently evaluated not reviewed unknown Array rs2173236 33 128 0.257812 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR5H6 Ser88Leu S88L not reviewed Insufficiently evaluated not reviewed unknown Array rs2173236 6901 10758 0.641476 26 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5H6 Leu130Ile L130I not reviewed Insufficiently evaluated not reviewed unknown Array 258 10752 0.0239955 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - OR5H6 Thr133Ser T133S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR5H6 Ala145Pro A145P not reviewed Insufficiently evaluated not reviewed unknown Array rs9289564 7954 10754 0.739632 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR5H6 Ser179Leu S179L not reviewed Insufficiently evaluated not reviewed unknown Array rs16846784 855 10752 0.0795201 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5H6 Gln191Lys Q191K not reviewed Insufficiently evaluated not reviewed unknown Array rs58475490 842 10752 0.078311 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - OR5H6 Cys195Arg C195R not reviewed Insufficiently evaluated not reviewed unknown Array rs9853887 7112 10748 0.661704 31 0 42 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - OR5H6 Thr272Ala T272A not reviewed Insufficiently evaluated not reviewed unknown Array rs9853906 7421 10756 0.689941 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR5H6 Asp285Asn D285N not reviewed Insufficiently evaluated not reviewed unknown Array rs9871143 4836 10756 0.44961 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 0 N - - OR5I1 Val306Ile V306I not reviewed Insufficiently evaluated not reviewed unknown Array rs9665861 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR5I1 Ser114Ala S114A not reviewed Insufficiently evaluated not reviewed unknown Array rs57139368 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - -1 - 2 N - - OR5I1 Phe76Ser F76S not reviewed Insufficiently evaluated not reviewed unknown Array rs9666086 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR5I1 Leu50Ser L50S not reviewed Insufficiently evaluated not reviewed unknown Array rs4367963 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 1 N - - OR5I1 Arg6Gly R6G not reviewed Insufficiently evaluated not reviewed unknown Array rs17597625 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR5K1 Phe62Leu F62L not reviewed Insufficiently evaluated not reviewed unknown Array 557 10756 0.0517851 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5K2 His176Asn H176N not reviewed Insufficiently evaluated not reviewed unknown Array rs59427166 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR5K2 Tyr218Stop Y218X not reviewed Insufficiently evaluated not reviewed unknown Array rs55639376 15 116 0.12931 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR5K3 Gly44Asp G44D not reviewed Insufficiently evaluated not reviewed unknown Array rs13068323 29 126 0.230159 23 0 24 0 0 - - - - - - - - - - - - - - - - 0.954 - - 4 Y 1 N - - OR5K3 Val67Ala V67A not reviewed Insufficiently evaluated not reviewed unknown Array rs58422508 5 128 0.0390625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5K3 Cys122Arg C122R not reviewed Insufficiently evaluated not reviewed unknown Array rs57067643 5 128 0.0390625 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR5K3 Phe177Leu F177L not reviewed Insufficiently evaluated not reviewed unknown Array rs73854830 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR5K3 Gly266Ala G266A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - OR5K4 Asp89Asn D89N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - OR5K4 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array rs9822460 37 128 0.289062 26 0 28 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR5L1 Ile46Phe I46F not reviewed Insufficiently evaluated not reviewed unknown Array rs2869020 269 10756 0.0250093 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.324 - - 2 - 2 - 4 - - OR5L1 Arg54Trp R54W not reviewed Insufficiently evaluated not reviewed unknown Array rs34961497 1019 10756 0.0947378 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.483 - - 7 Y 0 N - - OR5L1 Val117Met V117M not reviewed Insufficiently evaluated not reviewed unknown Array rs59122940 312 10756 0.0290071 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 1 - - OR5L1 Ser287Pro S287P not reviewed Insufficiently evaluated not reviewed unknown Array rs12790505 1158 10756 0.107661 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5L2 Val59Met V59M not reviewed Insufficiently evaluated not reviewed unknown Array rs56711116 1152 10756 0.107103 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5L2 Met81Arg M81R not reviewed Insufficiently evaluated not reviewed unknown Array rs17148058 310 10756 0.0288211 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 3 - 4 - - OR5L2 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR5L2 Arg141Pro R141P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.299 - - 5 Y 1 N - - OR5M1 Ser282Thr S282T not reviewed Insufficiently evaluated not reviewed unknown Array rs4939078 2551 9584 0.266173 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 1 N - - OR5M10 Ile313Thr I313T not reviewed Insufficiently evaluated not reviewed unknown Array rs10896488 1631 9516 0.171396 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5M10 Thr206Asn T206N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR5M10 Val69Leu V69L not reviewed Insufficiently evaluated not reviewed unknown Array rs10792043 5797 9910 0.584965 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.396 - - 0 - 0 N - - OR5M11 Ser171Asn S171N not reviewed Insufficiently evaluated not reviewed unknown Array rs628524 76 128 0.59375 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5M11 Tyr126Stop Y126X not reviewed Insufficiently evaluated not reviewed unknown Array rs17547284 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 1 - - OR5M3 Leu84Phe L84F not reviewed Insufficiently evaluated not reviewed unknown Array rs605734 19 128 0.148438 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5M3 Asn3Ser N3S not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5M9 Lys270Arg K270R not reviewed Insufficiently evaluated not reviewed unknown Array rs1945237 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - -3 - 1 N - - OR5M9 Pro253Leu P253L not reviewed Insufficiently evaluated not reviewed unknown Array rs61902868 11 128 0.0859375 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR5M9 Leu224Pro L224P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.785 - - 7 Y 1 N - - OR5M9 Gln184Lys Q184K not reviewed Insufficiently evaluated not reviewed unknown Array rs61902869 11 128 0.0859375 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR5M9 Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array rs61902871 17 128 0.132812 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR5P2 Asn318Asp N318D not reviewed Insufficiently evaluated not reviewed unknown Array rs7949771 3105 10590 0.293201 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.45 - - -1 - 0 N - - OR5P2 Cys213Ser C213S not reviewed Insufficiently evaluated not reviewed unknown Array 3116 10586 0.294351 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5P2 Val212Ile V212I not reviewed Insufficiently evaluated not reviewed unknown Array 3117 10584 0.294501 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR5P2 Val190Ile V190I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR5P2 Tyr145Cys Y145C not reviewed Insufficiently evaluated not reviewed unknown Array rs73406604 3116 10580 0.294518 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.5 - - 6 Y 0 N - - OR5P2 Gly7Arg G7R not reviewed Insufficiently evaluated not reviewed unknown Array rs1482804 1118 10572 0.105751 9 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - OR5P3 Ile307Met I307M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734816 3 120 0.025 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR5P3 Phe193Leu F193L not reviewed Insufficiently evaluated not reviewed unknown Array rs73406693 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - OR5P3 Pro58Ala P58A not reviewed Insufficiently evaluated not reviewed unknown Array rs60467657 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 3 - 1 - - OR5R1 Ala274Val A274V not reviewed Insufficiently evaluated not reviewed unknown Array rs998544 46 128 0.359375 32 0 44 0 0 - - - - - - - - - - - - - - - - 0.738 - - 2 - 0 N - - OR5R1 Ala186Thr A186T not reviewed Insufficiently evaluated not reviewed unknown Array rs61901985 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 1 - 0 N - - OR5R1 Phe184Leu F184L not reviewed Insufficiently evaluated not reviewed unknown Array rs7930678 45 128 0.351562 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5R1 Ile162Thr I162T not reviewed Insufficiently evaluated not reviewed unknown Array rs12785840 16 128 0.125 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.609 - - 3 - 0 N - - OR5R1 Ser128Gly S128G not reviewed Insufficiently evaluated not reviewed unknown Array rs7933772 45 128 0.351562 25 0 35 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - OR5R1 Cys122Arg C122R not reviewed Insufficiently evaluated not reviewed unknown Array rs6591324 91 128 0.710938 46 0 78 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR5R1 Asp121Gly D121G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 2 N - - OR5R1 Cys103Tyr C103Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7123108 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 1 N - - OR5R1 Ile7Thr I7T not reviewed Insufficiently evaluated not reviewed unknown Array rs7931261 45 128 0.351562 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5T1 Ser164Gly S164G not reviewed Insufficiently evaluated not reviewed unknown Array rs12360890 3356 10758 0.311954 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR5T2 His309Asp H309D not reviewed Insufficiently evaluated not reviewed unknown Array rs7121880 8 128 0.0625 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 1 N - - OR5T2 Leu238Val L238V not reviewed Insufficiently evaluated not reviewed unknown Array rs12221615 14 128 0.109375 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR5T2 Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array rs62621278 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.661 - - 3 - 2 - 1 - - OR5T2 Ala195Thr A195T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - OR5T2 Thr125Met T125M not reviewed Insufficiently evaluated not reviewed unknown Array rs7122514 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - OR5T2 Val87Leu V87L not reviewed Insufficiently evaluated not reviewed unknown Array rs10791893 108 128 0.84375 51 0 91 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5T2 Thr64Ile T64I not reviewed Insufficiently evaluated not reviewed unknown Array rs11227599 25 128 0.195312 19 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5T2 Ser21Tyr S21Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3919907 27 128 0.210938 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 0 N - - OR5T3 Trp84Gly W84G not reviewed Insufficiently evaluated not reviewed unknown Array rs17150243 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 3 - 3 - - OR5T3 Ile125Thr I125T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR5T3 Ile190Thr I190T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746551 8 128 0.0625 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5T3 Lys314Glu K314E not reviewed Insufficiently evaluated not reviewed unknown Array rs73474358 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - OR5V1 Gly233Arg G233R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742983 12 128 0.09375 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 1 N - - OR5V1 Leu23Trp L23W not reviewed Insufficiently evaluated not reviewed unknown Array rs6930033 25 128 0.195312 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.243 - - 5 Y 0 N - - OR5W2 Phe310Tyr F310Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34573569 3 72 0.0416667 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - OR5W2 Leu304Val L304V not reviewed Insufficiently evaluated not reviewed unknown Array rs62639688 6 122 0.0491803 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR5W2 Phe215Leu F215L not reviewed Insufficiently evaluated not reviewed unknown Array rs17596422 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR5W2 Arg189Cys R189C not reviewed Insufficiently evaluated not reviewed unknown Array rs2457239 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR5W2 Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array rs61749302 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - OR5W2 Met160Thr M160T not reviewed Insufficiently evaluated not reviewed unknown Array rs17596519 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR5W2 His65Arg H65R not reviewed Insufficiently evaluated not reviewed unknown Array rs12419022 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.333 - - 1 - 0 N - - OR5W2 Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array rs17511797 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR6A2 Ala259Thr A259T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - 1 - 1 N - - OR6A2 Ala208Val A208V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741823 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 2 N - - OR6A2 Ile50Val I50V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741824 264 10758 0.0245399 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - OR6A2 Ala22Val A22V not reviewed Insufficiently evaluated not reviewed unknown Array rs7122644 2789 10758 0.259249 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR6B1 Ala117Thr A117T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10644 0.00103345 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR6B1 Arg128Cys R128C not reviewed Insufficiently evaluated not reviewed unknown Array rs28532725 225 10642 0.0211426 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 3 - 1 - - OR6B1 Arg143Cys R143C not reviewed Insufficiently evaluated not reviewed unknown Array rs7787378 903 10600 0.0851887 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR6B2 Cys179Arg C179R not reviewed Insufficiently evaluated not reviewed unknown Array rs10187574 27 100 0.27 20 0 22 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - OR6B2 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array rs10176036 11 80 0.1375 10 0 11 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - OR6B3 Cys234Tyr C234Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12465491 30 122 0.245902 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - OR6B3 Arg131Cys R131C not reviewed Insufficiently evaluated not reviewed unknown Array rs34599221 56 84 0.666667 32 0 57 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - OR6B3 Thr48Ile T48I not reviewed Insufficiently evaluated not reviewed unknown Array rs13030992 62 128 0.484375 40 0 60 0 0 - - - - - - - - - - - - - - - - 0.685 - - 3 - 0 N - - OR6C1 Cys130Tyr C130Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7132431 102 128 0.796875 49 0 84 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR6C1 His165Asp H165D not reviewed Insufficiently evaluated not reviewed unknown Array rs7132347 103 128 0.804688 49 0 85 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR6C1 Thr222Ile T222I not reviewed Insufficiently evaluated not reviewed unknown Array rs7132600 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 1 N - - OR6C1 Val246Ile V246I not reviewed Insufficiently evaluated not reviewed unknown Array rs7132916 103 128 0.804688 49 0 85 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR6C2 Leu209Pro L209P not reviewed Insufficiently evaluated not reviewed unknown Array rs11171467 1643 10758 0.152724 13 0 12 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 1 N - - OR6C2 Lys259Arg K259R not reviewed Insufficiently evaluated not reviewed unknown Array rs73339457 337 10756 0.0313313 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.01 - - -3 - 0 N - - OR6C2 Val266Glu V266E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - OR6C2 Ala298Val A298V not reviewed Insufficiently evaluated not reviewed unknown Array rs74092333 319 10756 0.0296579 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - OR6C3 Ser69Leu S69L not reviewed Insufficiently evaluated not reviewed unknown Array rs4318060 16 128 0.125 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR6C3 Thr88Ser T88S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - OR6C3 Met133Thr M133T not reviewed Insufficiently evaluated not reviewed unknown Array rs11835321 9 128 0.0703125 7 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - OR6C3 Asp164Tyr D164Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73324778 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.587 - - 7 Y 1 N - - OR6C4 Ile37Val I37V not reviewed Insufficiently evaluated not reviewed unknown Array rs7313899 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR6C4 Ser70Phe S70F not reviewed Insufficiently evaluated not reviewed unknown Array rs58154171 5 126 0.0396825 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR6C4 Met83Thr M83T not reviewed Insufficiently evaluated not reviewed unknown Array rs11835716 17 128 0.132812 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.095 - - 2 - 0 N - - OR6C6 Thr190Ile T190I not reviewed Insufficiently evaluated not reviewed unknown Array rs11171402 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 0 N - - OR6C6 Thr188Arg T188R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - 3 - 2 N - - OR6C6 Thr55Met T55M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - OR6C6 Leu41Ser L41S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - OR6C65 Thr222Ala T222A not reviewed Insufficiently evaluated not reviewed unknown Array rs7971073 90 128 0.703125 45 0 72 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 0 N - - OR6C68 Ala50Thr A50T not reviewed Insufficiently evaluated not reviewed unknown Array rs7133698 80 128 0.625 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR6C68 Ala78Val A78V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR6C68 Phe115Ile F115I not reviewed Insufficiently evaluated not reviewed unknown Array rs7304753 30 128 0.234375 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR6C68 Ala303Gly A303G not reviewed Insufficiently evaluated not reviewed unknown Array rs56760228 12 126 0.0952381 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR6C68 Arg314Leu R314L not reviewed Insufficiently evaluated not reviewed unknown Array rs12579181 35 108 0.324074 20 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR6C70 Gly271Stop G271X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR6C70 Lys233Asn K233N not reviewed Insufficiently evaluated not reviewed unknown Array rs60683621 30 128 0.234375 16 0 21 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - OR6C70 Leu181Pro L181P not reviewed Insufficiently evaluated not reviewed unknown Array rs10747756 108 128 0.84375 51 0 91 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR6C70 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array rs58920821 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR6C74 Arg2Gly R2G not reviewed Insufficiently evaluated not reviewed unknown Array rs7301705 31 128 0.242188 23 0 23 0 0 - - - - - - - - - - - - - - - - 0.033 - - 6 Y 0 N - - OR6C74 Phe31Ser F31S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 5 Y 0 N - - OR6C74 Leu61Phe L61F not reviewed Insufficiently evaluated not reviewed unknown Array rs11171388 11 128 0.0859375 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - OR6C74 Arg62Stop R62X not reviewed Insufficiently evaluated not reviewed unknown Array rs4522268 33 128 0.257812 25 0 25 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR6C74 Tyr75Cys Y75C not reviewed Insufficiently evaluated not reviewed unknown Array rs4388990 33 128 0.257812 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR6C74 Gly86Asp G86D not reviewed Insufficiently evaluated not reviewed unknown Array rs6581025 30 124 0.241935 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.885 - - 4 Y 1 N - - OR6C75 Ser36Arg S36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 3 - 0 N - - OR6C76 Val23Ile V23I not reviewed Insufficiently evaluated not reviewed unknown Array rs74092309 5 128 0.0390625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR6C76 Ile80Met I80M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6C76 Ala297Val A297V not reviewed Insufficiently evaluated not reviewed unknown Array rs73327795 5 126 0.0396825 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR6F1 Phe215Leu F215L not reviewed Insufficiently evaluated not reviewed unknown Array rs2282316 3866 10758 0.35936 37 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR6F1 Pro159Ala P159A not reviewed Insufficiently evaluated not reviewed unknown Array rs6665599 2188 10758 0.203384 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.687 - - 2 - 0 N - - OR6F1 Phe28Ser F28S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730470 1062 10758 0.0987172 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.822 - - 5 Y 0 N - - OR6F1 Leu13Pro L13P not reviewed Insufficiently evaluated not reviewed unknown Array rs60303431 245 10758 0.0227737 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 7 Y 0 N - - OR6K2 Arg236Cys R236C not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 8 Y 2 N - - OR6K2 Ile159Phe I159F not reviewed Insufficiently evaluated not reviewed unknown Array rs6686179 453 10758 0.0421082 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.908 - - 2 - 2 N - - OR6K3 Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array rs857702 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR6K3 Pro264Leu P264L not reviewed Insufficiently evaluated not reviewed unknown Array rs28568406 50 128 0.390625 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR6K3 Pro244Ser P244S not reviewed Insufficiently evaluated not reviewed unknown Array rs857703 35 128 0.273438 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.189 - - 3 - 0 N - - OR6K3 Gly168Asp G168D not reviewed Insufficiently evaluated not reviewed unknown Array rs73030055 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - OR6K3 Gln159His Q159H not reviewed Insufficiently evaluated not reviewed unknown Array rs857704 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - OR6K3 Gly20Arg G20R not reviewed Insufficiently evaluated not reviewed unknown Array rs857705 31 126 0.246032 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR6K6 Glu39Asp E39D not reviewed Insufficiently evaluated not reviewed unknown Array rs16840974 406 10758 0.0377394 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - OR6K6 His49Tyr H49Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16840976 933 10758 0.0867262 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR6K6 Gly80Asp G80D not reviewed Insufficiently evaluated not reviewed unknown Array rs16840980 933 10758 0.0867262 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR6K6 Gln128Arg Q128R not reviewed Insufficiently evaluated not reviewed unknown Array rs74122455 931 10758 0.0865403 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - OR6K6 Ser134Leu S134L not reviewed Insufficiently evaluated not reviewed unknown Array rs16840991 929 10758 0.0863543 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 1 N - - OR6K6 Arg159Cys R159C not reviewed Insufficiently evaluated not reviewed unknown Array rs16841001 1164 10758 0.108199 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.054 - - 8 Y 0 N - - OR6K6 Cys197Arg C197R not reviewed Insufficiently evaluated not reviewed unknown Array rs16841009 933 10758 0.0867262 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - OR6K6 Pro211Leu P211L not reviewed Insufficiently evaluated not reviewed unknown Array rs16841017 932 10758 0.0866332 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - OR6K6 Arg247Gln R247Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16841038 935 10758 0.0869121 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.526 - - 0 - 0 N - - OR6K6 His261Arg H261R not reviewed Insufficiently evaluated not reviewed unknown Array rs16841042 539 10758 0.0501022 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR6K6 Lys320Arg K320R not reviewed Insufficiently evaluated not reviewed unknown Array rs16841045 931 10758 0.0865403 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR6M1 Thr276Lys T276K not reviewed Insufficiently evaluated not reviewed unknown Array rs4936845 36 128 0.28125 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - OR6M1 Arg231His R231H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR6M1 Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 0 N - - OR6M1 Arg224Cys R224C not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.981 - - 8 Y 1 N - - OR6M1 Lys194Asn K194N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - OR6N1 Arg293His R293H not reviewed Insufficiently evaluated not reviewed unknown Array rs857824 81 128 0.632812 49 0 73 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - OR6N1 Gln261Arg Q261R not reviewed Insufficiently evaluated not reviewed unknown Array rs857825 81 128 0.632812 49 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR6N1 Phe245Leu F245L not reviewed Insufficiently evaluated not reviewed unknown Array rs857826 81 128 0.632812 49 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR6N1 Ile194Thr I194T not reviewed Insufficiently evaluated not reviewed unknown Array rs857827 81 128 0.632812 49 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR6N1 Thr91Ile T91I not reviewed Insufficiently evaluated not reviewed unknown Array rs7521578 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - OR6N1 Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array rs1864346 25 128 0.195312 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR6N2 Ile250Val I250V not reviewed Insufficiently evaluated not reviewed unknown Array rs41273541 22 128 0.171875 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR6N2 Ala204Val A204V not reviewed Insufficiently evaluated not reviewed unknown Array rs12027473 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - OR6P1 Arg261Trp R261W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR6Q1 Asp100Gly D100G not reviewed Insufficiently evaluated not reviewed unknown Array rs921135 52 128 0.40625 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR6Q1 Tyr173Cys Y173C not reviewed Insufficiently evaluated not reviewed unknown Array rs2513726 52 128 0.40625 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR6Q1 Gly316Ala G316A not reviewed Insufficiently evaluated not reviewed unknown Array rs1374570 51 128 0.398438 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR6S1 Arg296Cys R296C not reviewed Insufficiently evaluated not reviewed unknown Array rs17114309 451 10758 0.0419223 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR6S1 Arg237His R237H not reviewed Insufficiently evaluated not reviewed unknown Array rs17277522 4750 10758 0.441532 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR6S1 Val156Ile V156I not reviewed Insufficiently evaluated not reviewed unknown Array rs11622969 5723 10758 0.531976 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR6S1 Thr42Ile T42I not reviewed Insufficiently evaluated not reviewed unknown Array rs11622794 5818 10758 0.540807 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR6S1 Val36Leu V36L not reviewed Insufficiently evaluated not reviewed unknown Array rs45443395 356 10758 0.0330917 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6T1 Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array rs7937317 8 128 0.0625 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR6T1 Arg64Trp R64W not reviewed Insufficiently evaluated not reviewed unknown Array rs6590021 8 128 0.0625 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR6T1 Ile23Thr I23T not reviewed Insufficiently evaluated not reviewed unknown Array rs6590022 8 128 0.0625 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR6V1 Leu164Pro L164P not reviewed Insufficiently evaluated not reviewed unknown Array rs61736210 5 128 0.0390625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.973 - - 7 Y 2 N - - OR6V1 Ser237Phe S237F not reviewed Insufficiently evaluated not reviewed unknown Array rs10245778 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 1 N - - OR6V1 Arg269Lys R269K not reviewed Insufficiently evaluated not reviewed unknown Array rs7791886 5 128 0.0390625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.042 - - -3 - 0 N - - OR6X1 Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - OR6X1 Thr190Asn T190N not reviewed Insufficiently evaluated not reviewed unknown Array rs12364099 9 126 0.0714286 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 1 N - - OR6X1 Asn3His N3H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - OR6Y1 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array rs41273491 27 128 0.210938 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - OR6Y1 Thr104Ile T104I not reviewed Insufficiently evaluated not reviewed unknown Array rs55665765 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OR6Y1 Ala27Gly A27G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR6Y1 Thr2Ile T2I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR7A10 Ile225Leu I225L not reviewed Insufficiently evaluated not reviewed unknown Array rs11880955 2101 10758 0.195297 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.803 - - -2 - 0 N - - OR7A10 Gln183Glu Q183E not reviewed Insufficiently evaluated not reviewed unknown Array rs9305052 322 10758 0.0299312 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - OR7A10 Met151Thr M151T not reviewed Insufficiently evaluated not reviewed unknown Array rs12972670 1791 10758 0.166481 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - OR7A10 Leu44Ile L44I not reviewed Insufficiently evaluated not reviewed unknown Array rs12985894 1785 10752 0.166016 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - OR7A10 Leu36Pro L36P not reviewed Insufficiently evaluated not reviewed unknown Array rs28540032 312 10758 0.0290017 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.965 - - 7 Y 2 N - - OR7A17 Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array rs13345394 6 128 0.046875 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.032 - - 1 - 0 N - - OR7A17 Ile221Val I221V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - -4 - 2 N - - OR7A17 Ala69Ser A69S not reviewed Insufficiently evaluated not reviewed unknown Array rs10404119 32 128 0.25 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR7A17 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array rs10405129 33 128 0.257812 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.543 - - 3 - 0 N - - OR7A5 His269Leu H269L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.823 - - 6 Y 1 N - - OR7A5 Glu173Lys E173K not reviewed Insufficiently evaluated not reviewed unknown Array rs56284724 177 10758 0.0164529 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - OR7A5 Arg122Gln R122Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - 0 - 2 N - - OR7C1 Val247Leu V247L not reviewed Insufficiently evaluated not reviewed unknown Array rs73004304 24 128 0.1875 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.353 - - 0 - 0 N - - OR7C1 Ser210Pro S210P not reviewed Insufficiently evaluated not reviewed unknown Array rs16979912 34 128 0.265625 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR7C1 Glu171Lys E171K not reviewed Insufficiently evaluated not reviewed unknown Array rs10415312 52 0 101 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR7C1 Thr170Ile T170I not reviewed Insufficiently evaluated not reviewed unknown Array rs62122646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 3 - 2 N - - OR7C1 Val126Ile V126I not reviewed Insufficiently evaluated not reviewed unknown Array rs10415562 91 126 0.722222 47 0 76 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - OR7C1 Ser99Gly S99G not reviewed Insufficiently evaluated not reviewed unknown Array rs17230134 25 128 0.195312 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.842 - - 2 - 0 N - - OR7C2 Thr118Met T118M not reviewed Insufficiently evaluated not reviewed unknown Array rs8113325 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - OR7C2 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array rs11883178 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - OR7C2 Val228Leu V228L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR7C2 Val228Ala V228A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 1 - 1 - - OR7C2 Ala230Ser A230S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - OR7C2 Lys294Arg K294R not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR7D2 Val247Ile V247I not reviewed Insufficiently evaluated not reviewed unknown Array rs61739064 192 10758 0.0178472 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 1 - 2 - - OR7D4 Thr133Met T133M not reviewed Insufficiently evaluated not reviewed unknown Array rs5020278 1602 10758 0.148912 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR7D4 Arg88Trp R88W not reviewed Insufficiently evaluated not reviewed unknown Array rs61729907 1601 10758 0.148819 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.482 - - 7 Y 0 N - - OR7D4 Thr38Met T38M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - OR7D4 Leu17Phe L17F not reviewed Insufficiently evaluated not reviewed unknown Array rs57568862 4 10756 0.000371885 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - OR7E24 Ile64Val I64V not reviewed Insufficiently evaluated not reviewed unknown Array 147 10752 0.0136719 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.907 - - -4 - 3 - 1 - - OR7E24 Ser193Phe S193F not reviewed Insufficiently evaluated not reviewed unknown Array rs12980833 669 9964 0.0671417 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 1 N - - OR7E24 Pro242Ser P242S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240928 3975 9940 0.399899 37 0 59 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR7G1 Tyr252Cys Y252C not reviewed Insufficiently evaluated not reviewed unknown Array rs2195951 3156 10758 0.293363 35 0 45 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - OR7G1 Trp141Cys W141C not reviewed Insufficiently evaluated not reviewed unknown Array rs2217657 5194 10758 0.482803 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR7G1 Pro129Thr P129T not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - OR7G1 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array rs6511874 3194 10758 0.296895 37 0 48 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - OR7G2 Phe302Val F302V not reviewed Insufficiently evaluated not reviewed unknown Array rs4804401 41 128 0.320312 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR7G2 Val284Ala V284A not reviewed Insufficiently evaluated not reviewed unknown Array rs12610094 50 128 0.390625 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR7G2 Pro196Leu P196L not reviewed Insufficiently evaluated not reviewed unknown Array rs7247751 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR7G3 Arg122Stop R122X not reviewed Insufficiently evaluated not reviewed unknown Array rs17001893 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR7G3 Met29Val M29V not reviewed Insufficiently evaluated not reviewed unknown Array rs10414255 54 122 0.442623 35 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR8A1 Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array rs61756691 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.18 - - -4 - 0 N - - OR8A1 Thr133Arg T133R not reviewed Insufficiently evaluated not reviewed unknown Array rs55861866 26 128 0.203125 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 1 N - - OR8A1 Ala142Asp A142D not reviewed Insufficiently evaluated not reviewed unknown Array rs61750763 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 2 N - - OR8A1 Ser218Leu S218L not reviewed Insufficiently evaluated not reviewed unknown Array rs12792184 99 128 0.773438 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR8A1 Thr320Met T320M not reviewed Insufficiently evaluated not reviewed unknown Array rs59034440 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - OR8B12 Ser238Asn S238N not reviewed Insufficiently evaluated not reviewed unknown Array rs61747005 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - OR8B12 Met97Lys M97K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743861 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 4 Y 2 N - - OR8B12 His55Tyr H55Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR8B2 Ser273Phe S273F not reviewed Insufficiently evaluated not reviewed unknown Array rs503220 28 94 0.297872 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR8B2 Thr208Met T208M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8B2 Thr205Ile T205I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8B2 Leu164Phe L164F not reviewed Insufficiently evaluated not reviewed unknown Array rs886202 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8B2 Arg100Gln R100Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8B2 Asn94Tyr N94Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8B2 Thr47Ile T47I not reviewed Insufficiently evaluated not reviewed unknown Array rs71491826 2 40 0.05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8B2 Ile34Val I34V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR8B2 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array rs530740 14 78 0.179487 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR8B2 Arg24Trp R24W not reviewed Insufficiently evaluated not reviewed unknown Array rs530765 14 76 0.184211 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR8B2 His20Arg H20R not reviewed Insufficiently evaluated not reviewed unknown Array rs28373946 35 38 0.921053 18 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8B3 Cys212Phe C212F not reviewed Insufficiently evaluated not reviewed unknown Array rs73612851 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR8B3 Met114Ile M114I not reviewed Insufficiently evaluated not reviewed unknown Array rs530992 21 96 0.21875 18 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR8B3 Leu45Stop L45X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR8B3 Val34Ile V34I not reviewed Insufficiently evaluated not reviewed unknown Array rs653057 38 84 0.452381 21 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR8B3 Gln24Arg Q24R not reviewed Insufficiently evaluated not reviewed unknown Array rs61910862 23 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8B3 His20Arg H20R not reviewed Insufficiently evaluated not reviewed unknown Array rs507335 79 84 0.940476 34 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8B4 Gln185His Q185H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - -1 - 1 N - - OR8B4 Cys178Arg C178R not reviewed Insufficiently evaluated not reviewed unknown Array rs4057749 43 128 0.335938 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - OR8B4 Cys140Phe C140F not reviewed Insufficiently evaluated not reviewed unknown Array rs7116575 25 128 0.195312 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - OR8B4 Tyr131His Y131H not reviewed Insufficiently evaluated not reviewed unknown Array rs4057750 41 128 0.320312 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 1 N - - OR8B4 Glu22Gly E22G not reviewed Insufficiently evaluated not reviewed unknown Array rs10750270 37 128 0.289062 29 0 32 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 0 N - - OR8B8 Gly155Val G155V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - OR8B8 Cys97Tyr C97Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR8B8 Ile77Asn I77N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - OR8D1 Ser254Phe S254F not reviewed Insufficiently evaluated not reviewed unknown Array rs57552127 23 128 0.179688 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 1 N - - OR8D1 Ile201Thr I201T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - OR8D1 Leu194Pro L194P not reviewed Insufficiently evaluated not reviewed unknown Array rs4936919 37 128 0.289062 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.134 - - 7 Y 0 N - - OR8D1 Cys127Trp C127W not reviewed Insufficiently evaluated not reviewed unknown Array rs7107539 35 128 0.273438 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - OR8D2 Pro263Leu P263L not reviewed Insufficiently evaluated not reviewed unknown Array rs2466620 40 126 0.31746 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.285 - - 7 Y 0 N - - OR8D2 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array rs2512219 42 128 0.328125 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.573 - - 1 - 0 N - - OR8D2 Arg20Cys R20C not reviewed Insufficiently evaluated not reviewed unknown Array rs61735123 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - OR8D4 Leu55Arg L55R not reviewed Insufficiently evaluated not reviewed unknown Array rs17127947 26 128 0.203125 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 1 N - - OR8D4 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array rs17127950 26 128 0.203125 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.883 - - -4 - 1 N - - OR8D4 Phe102Val F102V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - OR8D4 Cys120Tyr C120Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10750250 109 128 0.851562 37 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR8D4 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array rs61907183 12 128 0.09375 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 1 N - - OR8D4 Arg133Lys R133K not reviewed Insufficiently evaluated not reviewed unknown Array rs7926767 84 126 0.666667 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR8D4 Phe200Leu F200L not reviewed Insufficiently evaluated not reviewed unknown Array rs10790610 35 126 0.277778 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.093 - - 0 - 0 N - - OR8D4 Phe205Ser F205S not reviewed Insufficiently evaluated not reviewed unknown Array rs12270203 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 5 Y 1 N - - OR8D4 Ser239Asn S239N not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.786 - - 0 - 1 N - - OR8D4 Leu283Pro L283P not reviewed Insufficiently evaluated not reviewed unknown Array rs7942047 110 128 0.859375 51 0 86 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR8D4 Arg298Lys R298K not reviewed Insufficiently evaluated not reviewed unknown Array rs7927385 85 128 0.664062 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR8G1 Ala247Val A247V not reviewed Insufficiently evaluated not reviewed unknown Array rs4482039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8G2 Ser6Cys S6C not reviewed Insufficiently evaluated not reviewed unknown Array rs10893172 56 126 0.444444 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR8G2 Leu43Pro L43P not reviewed Insufficiently evaluated not reviewed unknown Array rs11219508 53 124 0.427419 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR8G2 Ile84Leu I84L not reviewed Insufficiently evaluated not reviewed unknown Array rs2466615 77 128 0.601562 43 0 70 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR8G2 Ile163Val I163V not reviewed Insufficiently evaluated not reviewed unknown Array rs2466614 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR8G2 Arg242His R242H not reviewed Insufficiently evaluated not reviewed unknown Array rs7946182 57 128 0.445312 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8G2 Gly284Arg G284R not reviewed Insufficiently evaluated not reviewed unknown Array rs2466613 64 126 0.507936 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR8G2 Val294Ile V294I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - OR8G5 Ser88Phe S88F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8G5 Cys96Tyr C96Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2512168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8G5 Leu165Val L165V not reviewed Insufficiently evaluated not reviewed unknown Array rs11219544 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8G5 Gly239Glu G239E not reviewed Insufficiently evaluated not reviewed unknown Array rs2512167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8G5 Thr314Ala T314A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8G5 Met319Val M319V not reviewed Insufficiently evaluated not reviewed unknown Array rs10893192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8H1 Ser214Phe S214F not reviewed Insufficiently evaluated not reviewed unknown Array rs61888286 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.481 - - 5 Y 0 N - - OR8H1 Glu22Val E22V not reviewed Insufficiently evaluated not reviewed unknown Array rs17540861 7 124 0.0564516 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.376 - - 5 Y 0 N - - OR8H1 Gly2Ser G2S not reviewed Insufficiently evaluated not reviewed unknown Array rs11600896 4 126 0.031746 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8H2 Ile47Leu I47L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729740 22 118 0.186441 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - OR8H2 Ala105Val A105V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750923 5 122 0.0409836 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8H2 His120Tyr H120Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2512961 121 128 0.945312 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR8H2 Tyr169Cys Y169C not reviewed Insufficiently evaluated not reviewed unknown Array rs2449148 121 128 0.945312 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR8H2 Asp170Tyr D170Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.898 - - 7 Y 2 N - - OR8H2 Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - OR8H2 Tyr259His Y259H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731255 7 124 0.0564516 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.097 - - -1 - 0 N - - OR8H2 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array rs1842696 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR8H3 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751933 1028 10758 0.0955568 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR8H3 Cys103Phe C103F not reviewed Insufficiently evaluated not reviewed unknown Array rs61746202 617 10758 0.0573527 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR8H3 Pro137Ser P137S not reviewed Insufficiently evaluated not reviewed unknown Array rs1842691 10726 10752 0.997582 57 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR8H3 Leu142Pro L142P not reviewed Insufficiently evaluated not reviewed unknown Array rs61743852 624 10758 0.0580033 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - OR8H3 Val158Leu V158L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743838 625 10758 0.0580963 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - OR8H3 Asp170Tyr D170Y not reviewed Insufficiently evaluated not reviewed unknown Array rs78856925 4 10758 0.000371816 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.83 - - 7 Y 1 N - - OR8H3 Ile201Val I201V not reviewed Insufficiently evaluated not reviewed unknown Array rs17531522 626 10758 0.0581893 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - OR8H3 Thr254Ile T254I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743026 614 10758 0.0570738 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 1 N - - OR8H3 Met255Val M255V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743031 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.837 - - 0 - 1 N - - OR8H3 Arg293Ile R293I not reviewed Insufficiently evaluated not reviewed unknown Array rs61747871 613 10754 0.057002 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - OR8H3 Arg295Lys R295K not reviewed Insufficiently evaluated not reviewed unknown Array rs11606538 632 10754 0.0587688 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR8I2 Cys110Ser C110S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8I2 Ile124Val I124V not reviewed Insufficiently evaluated not reviewed unknown Array rs17603011 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR8I2 Lys139Asn K139N not reviewed Insufficiently evaluated not reviewed unknown Array rs17150021 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 4 - - OR8I2 Gln234Pro Q234P not reviewed Insufficiently evaluated not reviewed unknown Array rs61887096 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.907 - - 4 Y 1 N - - OR8I2 Tyr289Stop Y289X not reviewed Insufficiently evaluated not reviewed unknown Array rs61887097 2 120 0.0166667 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR8J1 Gly36Val G36V not reviewed Insufficiently evaluated not reviewed unknown Array rs7927015 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR8J1 Met114Leu M114L not reviewed Insufficiently evaluated not reviewed unknown Array rs7942730 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - -3 - 1 N - - OR8J1 Tyr120Cys Y120C not reviewed Insufficiently evaluated not reviewed unknown Array rs10896290 35 128 0.273438 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.058 - - 6 Y 0 N - - OR8J1 Tyr151His Y151H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - -1 - 2 N - - OR8J1 Ile228Met I228M not reviewed Insufficiently evaluated not reviewed unknown Array rs62001032 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - OR8J3 Asp271Glu D271E not reviewed Insufficiently evaluated not reviewed unknown Array rs17150102 14 128 0.109375 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 1 N - - OR8J3 Tyr123His Y123H not reviewed Insufficiently evaluated not reviewed unknown Array rs11227321 14 128 0.109375 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.154 - - -1 - 0 N - - OR8J3 Asn57Thr N57T not reviewed Insufficiently evaluated not reviewed unknown Array rs1947924 9 128 0.0703125 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8J3 Met39Ile M39I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742348 14 128 0.109375 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - OR8K1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs1905055 93 128 0.726562 48 0 81 0 0 - - - - - - - - - - - - - - - - 0.338 - - 2 - 0 N - - OR8K1 Met21Val M21V not reviewed Insufficiently evaluated not reviewed unknown Array rs10896271 48 128 0.375 34 0 46 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - OR8K1 Pro27Thr P27T not reviewed Insufficiently evaluated not reviewed unknown Array rs10896272 47 128 0.367188 33 0 45 0 0 - - - - - - - - - - - - - - - - 0.104 - - 4 Y 0 N - - OR8K1 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array rs17614327 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8K1 Ile219Thr I219T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - OR8K3 Leu122Arg L122R not reviewed Insufficiently evaluated not reviewed unknown Array rs960193 93 128 0.726562 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR8K5 Met118Val M118V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746523 7 128 0.0546875 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 1 N - - OR8K5 Glu11Lys E11K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR8S1 Met48Val M48V not reviewed Insufficiently evaluated not reviewed unknown Array rs2731073 115 128 0.898438 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR8S1 Leu82Pro L82P not reviewed Insufficiently evaluated not reviewed unknown Array rs71439450 68 128 0.53125 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 1 N - - OR8S1 Cys127Arg C127R not reviewed Insufficiently evaluated not reviewed unknown Array rs2705143 28 128 0.21875 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.974 - - 8 Y 1 N - - OR8S1 Arg128Cys R128C not reviewed Insufficiently evaluated not reviewed unknown Array rs12425460 68 128 0.53125 42 0 56 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - OR8S1 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array rs12425518 32 128 0.25 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR8S1 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array rs61941963 15 128 0.117188 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - OR8S1 Leu283Val L283V not reviewed Insufficiently evaluated not reviewed unknown Array rs59116841 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 1 - - OR8S1 Ala350Pro A350P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - OR8U1 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8U1 His20Arg H20R not reviewed Insufficiently evaluated not reviewed unknown Array rs11228166 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8U1 Thr99Ala T99A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8U1 Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR8U1 Ser112Cys S112C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8U1 Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array rs17150411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR8U1 Phe200Leu F200L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8U1 Met206Val M206V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8U1 Ser223Phe S223F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8U1 Tyr290Cys Y290C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8U1 Gln293Arg Q293R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8U8 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 181 9632 0.0187915 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8U8 His20Arg H20R not reviewed Insufficiently evaluated not reviewed unknown Array rs11228165 3248 9760 0.332787 40 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8U8 Thr99Ala T99A not reviewed Insufficiently evaluated not reviewed unknown Array 68 10334 0.00658022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8U8 Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array rs12788990 1090 10408 0.104727 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR8U8 Ser112Cys S112C not reviewed Insufficiently evaluated not reviewed unknown Array rs10791961 4787 10408 0.459935 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR8U8 Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array rs17150411 2531 10408 0.243178 32 0 32 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - OR8U8 Phe200Leu F200L not reviewed Insufficiently evaluated not reviewed unknown Array rs4990121 48 124 0.387097 42 0 42 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - OR8U8 Met206Val M206V not reviewed Insufficiently evaluated not reviewed unknown Array 250 10278 0.0243238 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.336 - - 0 - 1 N - - OR8U8 Ser223Phe S223F not reviewed Insufficiently evaluated not reviewed unknown Array rs79705206 3 10230 0.000293255 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8U8 Gln276Arg Q276R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8U8 Ser278Leu S278L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8U8 Ile291Val I291V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR8U8 Thr296Met T296M not reviewed Insufficiently evaluated not reviewed unknown Array rs11228759 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR9A2 Val293Asp V293D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 8 Y 1 N - - OR9A2 Arg53His R53H not reviewed Insufficiently evaluated not reviewed unknown Array rs9885986 979 10758 0.091002 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - OR9G1 Val28Leu V28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR9G1 Cys53Arg C53R not reviewed Insufficiently evaluated not reviewed unknown Array rs532637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR9G1 Cys53Tyr C53Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR9G1 Phe61Val F61V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G1 Thr62Ala T62A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR9G1 Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array rs2865520 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G1 Thr83Ile T83I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G1 Cys98Gly C98G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR9G1 Tyr112Cys Y112C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR9G1 Val117Met V117M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR9G1 Ala132Val A132V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR9G1 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array rs11228733 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR9G1 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array rs11228735 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR9G1 Gly193Cys G193C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - OR9G1 Met197Leu M197L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR9G1 Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR9G1 Lys231Gln K231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12420076 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR9G1 Tyr233His Y233H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR9G1 Tyr233Cys Y233C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR9G1 Ala259Ser A259S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR9G1 Val279Glu V279E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR9G1 Phe281Leu F281L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR9G1 Leu286Pro L286P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR9G4 Val222Ala V222A not reviewed Insufficiently evaluated not reviewed unknown Array rs513873 27 128 0.210938 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 1 N - - OR9G4 Asn206Asp N206D not reviewed Insufficiently evaluated not reviewed unknown Array rs577576 126 128 0.984375 53 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR9G4 Phe43Ser F43S not reviewed Insufficiently evaluated not reviewed unknown Array rs11228763 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 1 N - - OR9G9 Val28Leu V28L not reviewed Insufficiently evaluated not reviewed unknown Array rs36184181 33 114 0.289474 26 0 26 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR9G9 Cys53Arg C53R not reviewed Insufficiently evaluated not reviewed unknown Array rs532637 35 114 0.307018 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR9G9 Cys53Tyr C53Y not reviewed Insufficiently evaluated not reviewed unknown Array rs532635 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR9G9 Phe61Val F61V not reviewed Insufficiently evaluated not reviewed unknown Array rs3975155 80 126 0.634921 51 0 65 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 0 N - - OR9G9 Thr62Ala T62A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - OR9G9 Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array rs2865520 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G9 Thr83Ile T83I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741560 27 66 0.409091 25 0 25 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - OR9G9 Cys98Gly C98G not reviewed Insufficiently evaluated not reviewed unknown Array rs11228732 22 94 0.234043 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 0 N - - OR9G9 Tyr112Cys Y112C not reviewed Insufficiently evaluated not reviewed unknown Array rs4990194 55 116 0.474138 43 0 42 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - OR9G9 Val117Met V117M not reviewed Insufficiently evaluated not reviewed unknown Array rs591369 56 116 0.482759 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR9G9 Ala132Val A132V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - OR9G9 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array rs11228733 16 36 0.444444 17 0 16 0 0 - - - - - - - - - - - - - - - - 0.109 - - 8 Y 0 N - - OR9G9 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array rs11228735 30 70 0.428571 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR9G9 Gly193Cys G193C not reviewed Insufficiently evaluated not reviewed unknown Array rs12421330 11 112 0.0982143 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.02 - - 7 Y 0 N - - OR9G9 Met197Leu M197L not reviewed Insufficiently evaluated not reviewed unknown Array 35 104 0.336538 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OR9G9 Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR9G9 Lys231Gln K231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12420076 38 106 0.358491 30 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR9G9 Tyr233His Y233H not reviewed Insufficiently evaluated not reviewed unknown Array rs10896516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR9G9 Tyr233Cys Y233C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR9G9 Ala259Ser A259S not reviewed Insufficiently evaluated not reviewed unknown Array rs7121276 15 112 0.133929 16 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR9G9 Val279Glu V279E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 5 Y 2 N - - OR9G9 Phe281Leu F281L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - OR9G9 Leu286Pro L286P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR9I1 Val213Ile V213I not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.166 - - -4 - 0 N - - OR9I1 Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array rs59849756 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.719 - - 0 - 2 - 1 - - OR9I1 Thr161Asn T161N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - OR9K2 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array rs12303066 48 128 0.375 35 0 37 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - OR9K2 Glu103Ala E103A not reviewed Insufficiently evaluated not reviewed unknown Array rs7305779 48 128 0.375 35 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR9K2 Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array rs7306491 48 128 0.375 35 0 37 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - OR9Q1 Ala83Thr A83T not reviewed Insufficiently evaluated not reviewed unknown Array 250 10758 0.0232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - OR9Q2 Cys179Arg C179R not reviewed Insufficiently evaluated not reviewed unknown Array rs34337292 28 128 0.21875 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - ORAI1 Ser220Gly S220G not reviewed Insufficiently evaluated not reviewed unknown Array rs3741596 10 126 0.0793651 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ORAOV1 Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array rs56107468 234 10738 0.0217918 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - ORC1L Met816Thr M816T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ORC1L Thr466Met T466M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - ORC1L Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ORC1L Ser269Leu S269L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ORC3L Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ORC4L Leu202Val L202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORC4L Asn78Ser N78S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORM1 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 6248 10712 0.583271 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ORM2 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 1 - 2 - - ORM2 Val99Ala V99A not reviewed Insufficiently evaluated not reviewed unknown Array rs2636889 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 1 N - - ORM2 Val106Ile V106I not reviewed Insufficiently evaluated not reviewed unknown Array 6 124 0.0483871 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - OSBP2 Thr482Arg T482R not reviewed Insufficiently evaluated not reviewed unknown Array 54 9920 0.00544355 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - OSBPL10 Asn254Asp N254D not reviewed Insufficiently evaluated not reviewed unknown Array rs2290532 3502 10758 0.325525 22 0 36 0 0 - - - - - - - - - - - - - - - - 0.192 - - -1 - 0 N - - OSBPL1A Arg602Lys R602K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 2 N - - OSBPL1A Arg89Lys R89K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OSBPL1A Asn165Lys N165K not reviewed Insufficiently evaluated not reviewed unknown Array rs34907319 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OSBPL2 His167Pro H167P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSBPL2 His179Pro H179P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - OSBPL2 His167Gln H167Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OSBPL2 His179Gln H179Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - OSBPL5 Ala706Thr A706T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL5 Ala774Thr A774T not reviewed Insufficiently evaluated not reviewed unknown Array rs2277301 1952 10756 0.18148 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OSBPL5 Arg270Pro R270P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSBPL5 Arg338Pro R338P not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSBPL6 Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array 420 10758 0.0390407 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSBPL6 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35032920 5 126 0.0396825 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - OSBPL7 Ser587Pro S587P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OSBPL7 Thr156Ile T156I not reviewed Insufficiently evaluated not reviewed unknown Array rs35437144 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - OSBPL9 Ala190Thr A190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL9 Ala25Thr A25T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSCAR Tyr214Ser Y214S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSCAR Tyr225Ser Y225S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSCAR Tyr229Ser Y229S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSCAR Arg229Trp R229W not reviewed Insufficiently evaluated not reviewed unknown Array rs1110643 58 10134 0.00572331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - OSCAR Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSCAR Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSCAR Arg192His R192H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742142 636 10540 0.0603416 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OSCAR Ala140Gly A140G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSCAR Ala151Gly A151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - OSCAR Ala155Gly A155G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - OSCAR Ile101Ser I101S not reviewed Insufficiently evaluated not reviewed unknown Array rs1657535 115 128 0.898438 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OSCAR Ile86Ser I86S not reviewed Insufficiently evaluated not reviewed unknown Array rs1657535 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSCAR Ile97Ser I97S not reviewed Insufficiently evaluated not reviewed unknown Array rs1657535 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSGIN1 Pro6Leu P6L not reviewed Insufficiently evaluated not reviewed unknown Array rs4782865 5435 10758 0.505205 32 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OSGIN1 Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSGIN1 Asn34Thr N34T not reviewed Insufficiently evaluated not reviewed unknown Array rs28555129 6819 9696 0.70328 42 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OSGIN1 Met57Leu M57L not reviewed Insufficiently evaluated not reviewed unknown Array rs2244899 9165 10632 0.86202 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OSGIN1 Leu59Val L59V not reviewed Insufficiently evaluated not reviewed unknown Array rs2244898 9168 10638 0.861816 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OSGIN2 Tyr101His Y101H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - OSGIN2 Tyr145His Y145H not reviewed Insufficiently evaluated not reviewed unknown Array rs35542900 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OSM Thr9Met T9M not reviewed Insufficiently evaluated not reviewed unknown Array rs5763919 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.708 - - 2 - 2 - 10 - - OSMR His187Gln H187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34675408 1050 10758 0.0976018 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.117 - - -1 - 0 N - - OSMR Glu527Lys E527K not reviewed Insufficiently evaluated not reviewed unknown Array rs10941412 2061 10758 0.191578 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - OSMR Asp553Asn D553N not reviewed Insufficiently evaluated not reviewed unknown Array rs2278329 127 10758 0.0118052 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 1 - 5 - - OSMR Trp561Cys W561C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OSMR Ile691Met I691M not reviewed Insufficiently evaluated not reviewed unknown Array rs73083385 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.855 - - -1 - 2 N - - OSMR Pro936Ser P936S not reviewed Insufficiently evaluated not reviewed unknown Array rs3749737 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 8 - - OSR1 Glu258Gln E258Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 Y - -2 - 1 N - - OSTALPHA Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OSTCL Ile54Val I54V not reviewed Insufficiently evaluated not reviewed unknown Array rs3127158 1093 10758 0.101599 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OSTCL Asn50Asp N50D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OSTCL Tyr47Asn Y47N not reviewed Insufficiently evaluated not reviewed unknown Array 337 10758 0.0313255 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSTM1 Leu52Phe L52F not reviewed Insufficiently evaluated not reviewed unknown Array rs9480830 275 10544 0.0260812 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.036 Y - 0 - 1 N - - OTC Lys46Arg K46R benign Insufficiently evaluated benign unknown Array rs1800321 2571 8758 0.29356 29 0 43 1 0 1 Y - - - - - - - - - - Y Y - - 0.008 Y - -3 - 3 N 8 - - Other variants in this gene are thought to be causative for ornithine transcarbamylase deficiency, a rare X-linked metabolic disorder. However, Grompe et al. (1989) concluded that this is a polymorphism, and other groups in ClinVar have supported this finding. OTOA Phe15Tyr F15Y not reviewed Insufficiently evaluated not reviewed unknown Array 386 10758 0.0358803 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OTOA Thr461Pro T461P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - OTOA Thr706Pro T706P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - OTOA Thr785Pro T785P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - OTOF Arg1086Gln R1086Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OTOF Arg1163Gln R1163Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OTOF Arg1853Gln R1853Q not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.155 Y Y 0 - 2 N - - OTOF Pro1646Ser P1646S not reviewed Insufficiently evaluated not reviewed unknown Array rs17005371 1733 10758 0.161089 15 0 21 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 3 - 2 N - - OTOF Pro879Ser P879S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OTOF Pro956Ser P956S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OTOF Asn1203Ser N1203S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740776 213 10758 0.0197992 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.037 Y Y 0 - 2 N - - OTOF Asn456Ser N456S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OTOF Asn513Ser N513S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OTOF Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - OTOF Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array rs61744348 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.914 Y Y 7 Y 4 N - - OTOF Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array rs13031859 3928 10756 0.365192 23 0 27 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 8 Y 3 - 2 - - OTOF Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array rs1879761 39 10758 0.00362521 5 0 7 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 2 - 2 N - - OTOF Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10692 0.00673401 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 0 - 5 - 1 - - OTOL1 Glu470Ala E470A not reviewed Insufficiently evaluated not reviewed unknown Array rs3921595 74 128 0.578125 37 0 58 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 1 N - - OTOP1 Ala601Thr A601T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - OTOP1 Pro592Ala P592A not reviewed Insufficiently evaluated not reviewed unknown Array 1487 10758 0.138223 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - OTOP1 Lys493Thr K493T not reviewed Insufficiently evaluated not reviewed unknown Array rs34666677 884 10758 0.0821714 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - OTOP1 Asp309Glu D309E not reviewed Insufficiently evaluated not reviewed unknown Array rs2916414 7185 10758 0.667875 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OTOP1 Ile241Val I241V not reviewed Insufficiently evaluated not reviewed unknown Array 212 10758 0.0197063 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - OTOP1 His205Asp H205D not reviewed Insufficiently evaluated not reviewed unknown Array rs57982980 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - OTOP1 Trp106Stop W106X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OTOP1 Trp106Arg W106R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OTOP1 Lys56Arg K56R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10388 0.000577589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - OTOP1 Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array 323 9346 0.0345602 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OTOP2 Ala206Thr A206T not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OTOP2 Gly465Trp G465W not reviewed Insufficiently evaluated not reviewed unknown Array rs6501741 52 110 0.472727 31 0 43 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - OTOP2 Thr522Arg T522R not reviewed Insufficiently evaluated not reviewed unknown Array rs35589289 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.695 - - 3 - 2 - 1 - - OTOP3 Arg64Gln R64Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7210616 41 84 0.488095 22 0 33 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OTOP3 Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9890664 78 122 0.639344 45 0 70 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OTOP3 Ser199Pro S199P not reviewed Insufficiently evaluated not reviewed unknown Array rs1542752 114 128 0.890625 52 0 99 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OTOP3 Leu477Val L477V not reviewed Insufficiently evaluated not reviewed unknown Array rs35131040 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.381 - - 0 - 1 N - - OTOR Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs17686437 346 10758 0.0321621 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.946 - - 2 - 3 - 10 - - OTOR Leu31Pro L31P not reviewed Insufficiently evaluated not reviewed unknown Array rs6135876 1503 10758 0.13971 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 1 N - - OTP Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 1 - 10 - - OTUD3 Gly288Asp G288D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - OTUD3 Ala333Thr A333T not reviewed Insufficiently evaluated not reviewed unknown Array rs10916668 456 9884 0.0461352 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - OTUD4 Ile578Met I578M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OTUD4 Ile579Met I579M not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OTUD4 Pro532Gln P532Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OTUD4 Pro533Gln P533Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OTUD7A Ala872Thr A872T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OTUD7A Ser753Gly S753G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OTUD7A Val481Leu V481L not reviewed Insufficiently evaluated not reviewed unknown Array rs76704217 382 10726 0.0356144 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - OVCH1 Ala881Pro A881P not reviewed Insufficiently evaluated not reviewed unknown Array rs1347570 5727 9700 0.590412 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OVCH1 Ser672Phe S672F not reviewed Insufficiently evaluated not reviewed unknown Array rs11050243 1972 9922 0.19875 24 0 34 0 0 - - - - - - - - - - - - - - - - 0.02 - - 5 Y 0 N - - OVCH1 Leu557Val L557V not reviewed Insufficiently evaluated not reviewed unknown Array rs35183403 247 9626 0.0256597 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - OVCH1 Thr444Ile T444I not reviewed Insufficiently evaluated not reviewed unknown Array rs7975356 7785 9744 0.798953 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OVCH1 Lys330Glu K330E not reviewed Insufficiently evaluated not reviewed unknown Array rs3847680 5833 9572 0.609382 47 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OVCH1 Trp228Gly W228G not reviewed Insufficiently evaluated not reviewed unknown Array rs967181 4028 9848 0.409017 39 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OVCH1 Arg133Cys R133C not reviewed Insufficiently evaluated not reviewed unknown Array rs10843438 4491 9548 0.47036 33 0 47 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - OVCH1 Thr103Ile T103I not reviewed Insufficiently evaluated not reviewed unknown Array rs72640150 18 9520 0.00189076 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.184 - - 3 - 0 N - - OVCH2 Trp556Stop W556X not reviewed Insufficiently evaluated not reviewed unknown Array rs4509745 54 128 0.421875 35 0 46 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - OVCH2 Thr539Ile T539I not reviewed Insufficiently evaluated not reviewed unknown Array rs4633461 27 128 0.210938 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.555 - - 3 - 0 N - - OVCH2 Gln526His Q526H not reviewed Insufficiently evaluated not reviewed unknown Array rs4519083 27 128 0.210938 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OVCH2 Gly413Arg G413R not reviewed Insufficiently evaluated not reviewed unknown Array rs3925027 2 128 0.015625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OVCH2 Asn410Tyr N410Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4528317 118 128 0.921875 51 0 98 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OVCH2 Gly381Glu G381E not reviewed Insufficiently evaluated not reviewed unknown Array rs3925028 2 128 0.015625 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - OVCH2 Pro292Ser P292S not reviewed Insufficiently evaluated not reviewed unknown Array rs10839849 98 128 0.765625 44 0 79 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - OVCH2 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array rs12289558 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - OVCH2 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7927138 43 128 0.335938 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OVGP1 Glu676Gln E676Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7825 5612 10756 0.521755 51 0 75 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OVGP1 His604Gln H604Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10067 2015 10758 0.187302 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.932 - - -1 - 1 N - - OVGP1 Pro585Ala P585A not reviewed Insufficiently evaluated not reviewed unknown Array rs74109536 331 10758 0.0307678 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - OVGP1 Ser536Gly S536G not reviewed Insufficiently evaluated not reviewed unknown Array rs3767609 2727 10598 0.257313 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OVGP1 Thr533Ser T533S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742558 488 10668 0.0457443 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - OVGP1 Gly528Ser G528S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10586 0.00538447 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - OVGP1 Thr518Ser T518S not reviewed Insufficiently evaluated not reviewed unknown Array rs45455292 1354 10732 0.126165 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - OVGP1 Tyr514His Y514H not reviewed Insufficiently evaluated not reviewed unknown Array rs1126656 2699 10734 0.251444 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OVGP1 Ser511Pro S511P not reviewed Insufficiently evaluated not reviewed unknown Array rs56294468 2661 10734 0.247904 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OVGP1 Met479Val M479V not reviewed Insufficiently evaluated not reviewed unknown Array rs3767607 921 10758 0.0856107 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 1 N - - OVGP1 Met477Thr M477T not reviewed Insufficiently evaluated not reviewed unknown Array rs2485319 5691 10758 0.529002 51 0 76 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - OVGP1 Asp332Glu D332E not reviewed Insufficiently evaluated not reviewed unknown Array rs17027633 441 10758 0.0409927 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 3 - 4 - - OVOL2 Lys26Glu K26E not reviewed Insufficiently evaluated not reviewed unknown Array rs73252035 156 10750 0.0145116 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OXA1L Trp31Arg W31R not reviewed Insufficiently evaluated not reviewed unknown Array rs73586409 65 10758 0.00604201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - OXA1L Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array rs8572 8277 10758 0.769381 44 0 79 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OXA1L Val151Ile V151I not reviewed Insufficiently evaluated not reviewed unknown Array rs17619 1354 10758 0.12586 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OXCT1 Thr58Met T58M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.86 Y - 2 - 4 - 1 - - OXCT2 Asp494Asn D494N not reviewed Insufficiently evaluated not reviewed unknown Array 210 10756 0.019524 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - -1 - 1 N - - OXCT2 Glu480Gly E480G not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OXCT2 Leu285Arg L285R not reviewed Insufficiently evaluated not reviewed unknown Array rs230321 1701 10712 0.158794 18 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OXCT2 Leu38Pro L38P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OXER1 Leu407Val L407V not reviewed Insufficiently evaluated not reviewed unknown Array rs2278586 2350 10758 0.218442 27 0 30 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 0 N - - OXER1 Ala368Val A368V not reviewed Insufficiently evaluated not reviewed unknown Array 301 10756 0.0279844 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OXER1 Met40Ile M40I not reviewed Insufficiently evaluated not reviewed unknown Array rs34142793 226 10758 0.0210076 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 3 - 1 - - OXGR1 Glu277Asp E277D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - -2 - 0 N - - OXNAD1 Ser64Ala S64A not reviewed Insufficiently evaluated not reviewed unknown Array rs842274 4323 10758 0.40184 35 0 48 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - OXNAD1 Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array rs6777976 1859 10758 0.172802 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.013 - - 8 Y 0 N - - OXSR1 Thr304Ile T304I not reviewed Insufficiently evaluated not reviewed unknown Array rs6599079 2184 10738 0.20339 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OXSR1 Ala412Ser A412S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OXTR Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array rs4686302 1123 10756 0.104407 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - P11 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - P11 Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - P2RX3 Ala71Thr A71T not reviewed Insufficiently evaluated not reviewed unknown Array rs34572680 336 10758 0.0312326 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P2RX3 Ala383Val A383V not reviewed Insufficiently evaluated not reviewed unknown Array rs2276038 3176 10756 0.295277 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - P2RX4 Ser242Gly S242G not reviewed Insufficiently evaluated not reviewed unknown Array rs25644 1284 10758 0.119353 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - P2RX5 Glu372Lys E372K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - P2RX5 Glu397Lys E397K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748727 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - P2RX6 Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - P2RX6 Arg216His R216H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - P2RX6 Arg242His R242H not reviewed Insufficiently evaluated not reviewed unknown Array rs2277838 1447 10758 0.134505 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 3 - - P2RX7 Val76Ala V76A not reviewed Insufficiently evaluated not reviewed unknown Array rs17525809 535 10758 0.0497304 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - P2RX7 Arg117Trp R117W not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - P2RX7 Tyr155His Y155H not reviewed Insufficiently evaluated not reviewed unknown Array rs208294 6453 10758 0.599833 45 0 57 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - P2RX7 Arg270His R270H not reviewed Insufficiently evaluated not reviewed unknown Array rs7958311 2638 10758 0.245213 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - P2RX7 Leu320Pro L320P not reviewed Insufficiently evaluated not reviewed unknown Array rs73403850 58 10758 0.00539134 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - P2RX7 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs1718119 4486 10758 0.416992 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - P2RX7 Thr357Ser T357S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230911 1129 10758 0.104945 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - P2RX7 Pro430Arg P430R not reviewed Insufficiently evaluated not reviewed unknown Array rs10160951 550 10758 0.0511247 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - P2RX7 Ala433Val A433V not reviewed Insufficiently evaluated not reviewed unknown Array rs28360459 435 10758 0.040435 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - P2RX7 Gln460Arg Q460R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230912 1358 10758 0.126232 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - P2RX7 Glu496Ala E496A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751143 1603 10758 0.149005 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - P2RX7 His521Gln H521Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230913 523 10758 0.048615 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - P2RX7 Val522Ile V522I not reviewed Insufficiently evaluated not reviewed unknown Array rs34219304 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - P2RX7 Asn568Ile N568I not reviewed Insufficiently evaluated not reviewed unknown Array rs1653624 10490 10664 0.983683 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - P2RX7 Pro582Leu P582L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10618 0.00150688 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - P2RY10 Asn3His N3H not reviewed Insufficiently evaluated not reviewed unknown Array rs6618868 257 8761 0.0293346 8 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - P2RY11 Ala87Thr A87T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P2RY11 Ala361Thr A361T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P2RY12 Glu330Gly E330G not reviewed Insufficiently evaluated not reviewed unknown Array rs16846673 276 10758 0.0256553 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - P2RY13 Thr179Met T179M not reviewed Insufficiently evaluated not reviewed unknown Array rs1466684 9414 10758 0.87507 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - P2RY14 Pro301Leu P301L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 7 Y 2 N - - P2RY2 Tyr33Stop Y33X not reviewed Insufficiently evaluated not reviewed unknown Array rs73538722 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - P2RY2 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array rs2511241 9915 10758 0.92164 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - P2RY2 Ala156Pro A156P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - P2RY2 Pro167Thr P167T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - P2RY2 Arg312Ser R312S not reviewed Insufficiently evaluated not reviewed unknown Array rs3741156 1870 10758 0.173824 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - P2RY2 Arg334Cys R334C not reviewed Insufficiently evaluated not reviewed unknown Array rs1626154 1477 10756 0.137319 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 1 N - - P2RY2 Ser359Pro S359P not reviewed Insufficiently evaluated not reviewed unknown Array 340 10680 0.0318352 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - P2RY4 Pro352Thr P352T not reviewed Insufficiently evaluated not reviewed unknown Array rs72628860 357 8755 0.0407767 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - P2RY4 Ile247Val I247V not reviewed Insufficiently evaluated not reviewed unknown Array rs56217451 368 8761 0.0420043 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - P2RY4 Ser234Ala S234A not reviewed Insufficiently evaluated not reviewed unknown Array rs3829709 1007 8761 0.114941 13 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - P2RY4 Asn178Thr N178T not reviewed Insufficiently evaluated not reviewed unknown Array rs1152187 2901 8761 0.331127 26 0 41 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - P2RY4 Val168Met V168M not reviewed Insufficiently evaluated not reviewed unknown Array rs1152186 647 8761 0.07385 5 0 8 0 0 - - - - - - - - - - - - - - - - 0.491 - - 0 - 0 N - - P2RY5 Trp307Cys W307C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - P2RY5 Lys213Thr K213T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - P4HA2 Thr451Lys T451K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - P4HA3 Arg419Trp R419W not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.026 - - 7 Y 0 N - - P4HA3 Asp400Asn D400N not reviewed Insufficiently evaluated not reviewed unknown Array rs2282488 1407 10758 0.130786 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.092 - - -1 - 0 N - - P4HTM Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - P704P Pro434Thr P434T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - P704P Ile365Met I365M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PA2G4 Gly42Ser G42S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 2 - 2 N - - PAAF1 Cys139Ser C139S not reviewed Insufficiently evaluated not reviewed unknown Array rs2067912 608 10758 0.0565161 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.587 - - 3 - 0 N - - PAAF1 Ala209Gly A209G not reviewed Insufficiently evaluated not reviewed unknown Array rs3741138 1075 10758 0.0999256 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - PAAF1 Gly218Asp G218D not reviewed Insufficiently evaluated not reviewed unknown Array rs73549976 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - PABPC1 Leu597Pro L597P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PABPC1 Leu593Val L593V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - PABPC1 Met584Ile M584I not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - PABPC1 Gly579Ser G579S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 2 - 2 N - - PABPC1 Gln558Glu Q558E not reviewed Insufficiently evaluated not reviewed unknown Array 1144 10758 0.106339 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -2 - 1 N - - PABPC1 Val517Leu V517L not reviewed Insufficiently evaluated not reviewed unknown Array 2773 10758 0.257762 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PABPC1 Arg506Cys R506C not reviewed Insufficiently evaluated not reviewed unknown Array 3499 10758 0.325246 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 8 Y 1 N - - PABPC1 Val505Ile V505I not reviewed Insufficiently evaluated not reviewed unknown Array 3807 10758 0.353876 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PABPC1 Arg475Gln R475Q not reviewed Insufficiently evaluated not reviewed unknown Array 2362 10758 0.219558 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PABPC1 Ile454Thr I454T not reviewed Insufficiently evaluated not reviewed unknown Array 2344 10758 0.217884 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - PABPC1 Arg287Gly R287G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 2 N - - PABPC1 Arg278Cys R278C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - PABPC1 Thr147Met T147M not reviewed Insufficiently evaluated not reviewed unknown Array 1153 10758 0.107176 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - PABPC1 His144Arg H144R not reviewed Insufficiently evaluated not reviewed unknown Array 1019 10758 0.0947202 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - PABPC1L Ser212Ala S212A not reviewed Insufficiently evaluated not reviewed unknown Array rs2075960 1733 7820 0.221611 24 0 25 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - PABPC1L Asp303Asn D303N not reviewed Insufficiently evaluated not reviewed unknown Array 1 7820 0.000127877 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - PABPC1L Arg517Gln R517Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73296580 94 7820 0.0120205 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PABPC1L2B Ser181Tyr S181Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PABPC3 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - PABPC3 Pro191Thr P191T not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PABPC3 Ile195Val I195V not reviewed Insufficiently evaluated not reviewed unknown Array 4 120 0.0333333 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - PABPC3 Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array rs74040928 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 1 - 1 N - - PABPC3 Lys231Glu K231E not reviewed Insufficiently evaluated not reviewed unknown Array rs78826513 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 0 - 1 N - - PABPC3 Thr319Ile T319I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 3 - 1 N - - PABPC3 Cys339Tyr C339Y not reviewed Insufficiently evaluated not reviewed unknown Array rs58174040 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 1 - - PABPC3 Glu345Stop E345X not reviewed Insufficiently evaluated not reviewed unknown Array 4 74 0.0540541 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PABPC3 Lys444Met K444M not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PABPC3 Ser446Gly S446G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PABPC3 Ile448Thr I448T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PABPC3 Gly451Ala G451A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PABPC3 Val484Met V484M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PABPC3 Arg487Cys R487C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.513 - - 8 Y 1 N - - PABPC3 Gly574Glu G574E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - PABPC4L His370Pro H370P not reviewed Insufficiently evaluated not reviewed unknown Array rs11099273 1191 3234 0.368275 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PABPC4L Val192Ile V192I not reviewed Insufficiently evaluated not reviewed unknown Array rs10009368 1210 3234 0.37415 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PABPC4L Ile76Val I76V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PACS2 Ala166Val A166V not reviewed Insufficiently evaluated not reviewed unknown Array 195 10756 0.0181294 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PACS2 Thr185Ala T185A not reviewed Insufficiently evaluated not reviewed unknown Array rs8010888 1517 10758 0.141011 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PACS2 Asp577Asn D577N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - -1 - 2 N - - PACS2 Asp581Asn D581N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PACS2 Pro710Leu P710L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PACS2 Pro714Leu P714L not reviewed Insufficiently evaluated not reviewed unknown Array 417 10722 0.038892 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PACSIN2 Arg314Trp R314W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10318 9.6918e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PACSIN2 Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array rs35383004 218 10310 0.0211445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PACSIN3 Ala61Val A61V not reviewed Insufficiently evaluated not reviewed unknown Array rs7106654 1109 10758 0.103086 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.6 - - 2 - 0 N - - PADI1 Ile430Asn I430N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PADI3 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array rs3750300 973 10758 0.0904443 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PADI3 Val171Met V171M not reviewed Insufficiently evaluated not reviewed unknown Array rs2272629 711 10758 0.0660904 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.38 - - 0 - 0 N - - PADI3 Ile526Phe I526F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 2 - 0 N - - PADI4 Gly55Ser G55S not reviewed Insufficiently evaluated not reviewed unknown Array rs11203366 5853 10758 0.54406 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PADI4 Val74Ala V74A not reviewed Insufficiently evaluated not reviewed unknown Array rs57969340 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - PADI4 Val82Ala V82A not reviewed Insufficiently evaluated not reviewed unknown Array rs11203367 5942 10758 0.552333 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PADI4 Gly112Ala G112A not reviewed Insufficiently evaluated not reviewed unknown Array rs874881 5682 10758 0.528165 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - PADI4 Arg131Thr R131T not reviewed Insufficiently evaluated not reviewed unknown Array rs12733102 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - PADI4 Gly242Ser G242S not reviewed Insufficiently evaluated not reviewed unknown Array rs41265995 187 10758 0.0173824 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PADI4 Asp260Asn D260N not reviewed Insufficiently evaluated not reviewed unknown Array rs35903413 1005 10758 0.0934189 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 1 - 3 - - PADI4 Ser275Phe S275F not reviewed Insufficiently evaluated not reviewed unknown Array rs1748020 737 10758 0.0685072 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 0 N - - PADI4 Tyr309Cys Y309C not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 3 - 2 - - PADI4 His471Pro H471P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - PADI6 Arg207Gln R207Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61766772 457 9822 0.0465282 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PADI6 Arg384Stop R384X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PAEP Gln126Lys Q126K not reviewed Insufficiently evaluated not reviewed unknown Array rs3748210 1369 10624 0.128859 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - PAF1 Arg498Cys R498C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PAGE2 Leu5Val L5V not reviewed Insufficiently evaluated not reviewed unknown Array rs1845444 8043 8718 0.922574 52 0 101 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAGE3 Asn35Asp N35D not reviewed Insufficiently evaluated not reviewed unknown Array rs4826381 7075 8761 0.807556 43 0 84 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PAH Tyr414Cys Y414C pathogenic High clinical importance, pathogenic recessive Array 4 10758 0.000371816 0 0 0 6 6 3 Y 2 Y 5 Y - - 3 - 5 - Y Y - - 1.0 Y Y 6 Y 6 N 10 2 2 This recessive variant has reduced PAH enzyme activity. It is associated with mild PKU (especially when compound heterozygous with more deleterious PAH mutations) and mild hyperphenylalaninemia. PAH Arg176Gln R176Q pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.176 Y Y 0 - 3 - 4 - - Hyperphenylalaninemia PAH Asn167Ser N167S pathogenic Insufficiently evaluated pathogenic recessive Array 59 10758 0.00548429 3 0 2 1 1 1 Y - - 0 Y 0 Y 4 Y 4 Y Y - - - 0.239 Y Y 0 - Phenylalanine Hydroxylase Deficiency 1 39 0 51 INF 4 - 5 - - This variant was implicated in Phenylketonuria after it was seen in a heterozygous fashion in one individual. PAICS Ser141Cys S141C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 1 - 2 - - PAICS Ser148Cys S148C not reviewed Insufficiently evaluated not reviewed unknown Array 424 9596 0.0441851 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - PAK1 Thr541Lys T541K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PAK1IP1 Val376Ile V376I not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAK2 Ser2Cys S2C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PAK2 Ser20Arg S20R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - PAK2 Lys128Arg K128R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - -3 - 1 N - - PAK6 Met76Val M76V not reviewed Insufficiently evaluated not reviewed unknown Array rs2412504 1504 10712 0.140403 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAK6 His215Arg H215R not reviewed Insufficiently evaluated not reviewed unknown Array rs3743135 1553 10706 0.145059 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PAK6 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61739745 106 10746 0.00986413 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - PAK6 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743137 964 10758 0.0896077 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.805 - - 7 Y 0 N - - PAK7 Ser511Asn S511N not reviewed Insufficiently evaluated not reviewed unknown Array rs2297345 5109 10758 0.474902 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAK7 Asp334His D334H not reviewed Insufficiently evaluated not reviewed unknown Array rs58486349 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - PALB2 Glu672Gln E672Q benign Low clinical importance, Uncertain benign unknown Array rs45532440 263 10758 0.0244469 1 0 1 1 1 0 Y - - 4 Y 0 Y - - - - Y - - - 0.952 Y Y -2 - 5 - 2 0 0 Probably benign. PALB2 Pro661Leu P661L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 7 Y 4 N - - PALB2 Gln559Arg Q559R not reviewed Insufficiently evaluated not reviewed unknown Array rs152451 1457 10758 0.135434 9 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - PALB2 Asp498Tyr D498Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 7 Y 4 N - - PALB2 Leu337Ser L337S not reviewed Insufficiently evaluated not reviewed unknown Array rs45494092 157 10756 0.0145965 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.761 Y Y 6 Y 4 - 2 - - PALB2 Ile309Val I309V not reviewed Insufficiently evaluated not reviewed unknown Array rs3809683 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PALB2 Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array rs57605939 247 10758 0.0229597 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.357 Y Y 7 Y 3 N - - PALLD Met224Thr M224T not reviewed Insufficiently evaluated not reviewed unknown Array rs7655494 3014 10758 0.280164 27 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PALLD Met224Lys M224K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 4 - - PALLD Met224Ile M224I not reviewed Insufficiently evaluated not reviewed unknown Array rs7671781 3012 10758 0.279978 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PALLD Thr425Asn T425N not reviewed Insufficiently evaluated not reviewed unknown Array rs62333891 1186 10758 0.110244 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 0 N - - PALLD His558Gln H558Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - -1 - 2 N - - PALLD Phe559Ile F559I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - PALLD Phe559Tyr F559Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -4 - 1 N - - PALM Thr107Ala T107A not reviewed Insufficiently evaluated not reviewed unknown Array rs1050457 5673 10726 0.528902 26 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PALM2-AKAP2 Lys513Gln K513Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4978872 9254 10748 0.860997 10 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PALM2-AKAP2 Pro631Thr P631T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PALM2-AKAP2 Leu792Ser L792S not reviewed Insufficiently evaluated not reviewed unknown Array rs914358 5374 10758 0.499535 41 0 56 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PALM2-AKAP2 Ala844Glu A844E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PALM2-AKAP2 Ala881Val A881V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735424 369 10758 0.0343001 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PALM3 Ala440Thr A440T not reviewed Insufficiently evaluated not reviewed unknown Array 102 3234 0.0315399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PALM3 Thr412Arg T412R not reviewed Insufficiently evaluated not reviewed unknown Array 263 3234 0.0813234 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PALMD Glu459Asp E459D not reviewed Insufficiently evaluated not reviewed unknown Array rs35317701 327 10758 0.030396 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - PALMD Thr537Ala T537A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10668 0.000187476 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - PAM Ser432Trp S432W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAM Ser539Trp S539W not reviewed Insufficiently evaluated not reviewed unknown Array 62 10756 0.00576422 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - PAMR1 Gln542Arg Q542R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736408 2213 10758 0.205707 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAMR1 Gln559Arg Q559R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736408 18 128 0.140625 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAN2 Leu631Met L631M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - -3 - 1 - 1 - - PAN2 Ile179Leu I179L not reviewed Insufficiently evaluated not reviewed unknown Array rs1918496 8867 10758 0.824224 47 0 82 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PANK1 Trp47Arg W47R not reviewed Insufficiently evaluated not reviewed unknown Array 28 6644 0.00421433 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - PANK2 Arg94Pro R94P not reviewed Insufficiently evaluated not reviewed unknown Array rs71647827 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.783 Y Y 5 Y 4 - 2 - - PANK2 Leu111Gln L111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71647828 411 9654 0.042573 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.26 Y Y 5 Y 3 N - - PANK2 Gly126Ala G126A not reviewed Insufficiently evaluated not reviewed unknown Array rs3737084 7456 7936 0.939516 12 0 20 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 3 - - PANK3 Glu36Lys E36K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.066 - - 0 - 0 N - - PANK4 Leu690Val L690V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PANK4 Gln684Arg Q684R not reviewed Insufficiently evaluated not reviewed unknown Array rs2494620 3994 10736 0.372019 25 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PANK4 Ala547Val A547V not reviewed Insufficiently evaluated not reviewed unknown Array rs7535528 2908 10754 0.270411 18 0 26 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PANX1 Gln5His Q5H not reviewed Insufficiently evaluated not reviewed unknown Array rs1138800 7539 10758 0.700781 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PANX1 Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PANX1 Ala86Gly A86G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PANX1 Ile272Val I272V not reviewed Insufficiently evaluated not reviewed unknown Array rs12793348 1100 10758 0.102249 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PANX1 Glu390Asp E390D not reviewed Insufficiently evaluated not reviewed unknown Array 406 10758 0.0377394 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAOX Val285Ile V285I not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - PAOX Phe316Ser F316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PAOX Glu325Lys E325K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAOX Arg409Lys R409K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748925 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PAOX Gln457Glu Q457E not reviewed Insufficiently evaluated not reviewed unknown Array rs1046175 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAPD5 Gln414His Q414H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - PAPD5 Gln461His Q461H not reviewed Insufficiently evaluated not reviewed unknown Array 20 9788 0.00204332 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - PAPL Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PAPL Pro279Leu P279L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAPLN Ser33Gly S33G not reviewed Insufficiently evaluated not reviewed unknown Array rs2280792 1598 10716 0.149123 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PAPLN Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array rs741842 1077 10758 0.100112 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.065 - - 1 - 0 N - - PAPLN Asp313Asn D313N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PAPLN Asn329His N329H not reviewed Insufficiently evaluated not reviewed unknown Array rs17126331 671 10758 0.0623722 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAPLN Arg595Trp R595W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAPLN Ala646Thr A646T not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PAPLN Met666Arg M666R not reviewed Insufficiently evaluated not reviewed unknown Array rs177389 6654 10758 0.618516 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PAPLN Met666Thr M666T not reviewed Insufficiently evaluated not reviewed unknown Array rs177389 17 126 0.134921 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PAPLN Arg726Trp R726W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAPLN Arg785Cys R785C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740318 90 10704 0.00840807 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PAPLN Pro910Leu P910L not reviewed Insufficiently evaluated not reviewed unknown Array rs73306834 145 10758 0.0134783 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAPLN Ala1087Thr A1087T not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PAPLN Thr1174Met T1174M not reviewed Insufficiently evaluated not reviewed unknown Array rs4903104 1500 10756 0.139457 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PAPOLB Lys84Arg K84R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750010 1612 9980 0.161523 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PAPOLB Asn19Lys N19K not reviewed Insufficiently evaluated not reviewed unknown Array rs3750009 4565 9848 0.463546 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PAPPA Phe99Leu F99L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PAPPA Ala678Pro A678P not reviewed Insufficiently evaluated not reviewed unknown Array rs34371232 126 10758 0.0117122 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAPPA Ser1224Tyr S1224Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7020782 6201 10758 0.576408 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PAPPA Pro1317Leu P1317L not reviewed Insufficiently evaluated not reviewed unknown Array rs60642076 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAPPA Cys1415Phe C1415F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAPPA2 Thr171Ser T171S not reviewed Insufficiently evaluated not reviewed unknown Array rs36112782 225 10260 0.0219298 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - PAPPA2 Val823Glu V823E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 5 Y 1 N - - PAPSS1 Pro559Ser P559S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.421 - - 3 - 1 N - - PAPSS2 Met281Leu M281L not reviewed Insufficiently evaluated not reviewed unknown Array rs45624631 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - PAPSS2 Val291Met V291M not reviewed Insufficiently evaluated not reviewed unknown Array rs45467596 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 1 - 4 - - PAPSS2 Val296Met V296M not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - PAQR5 Ser11Asn S11N not reviewed Insufficiently evaluated not reviewed unknown Array rs73440972 841 10758 0.0781744 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAQR6 Glu263Lys E263K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAQR7 Leu328Ile L328I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - PAQR7 Ile327Ser I327S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PAQR7 Gly272Arg G272R not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PAQR7 Val227Met V227M not reviewed Insufficiently evaluated not reviewed unknown Array rs55948644 763 10758 0.070924 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PAQR9 Ile161Thr I161T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - PAQR9 Asp36Asn D36N not reviewed Insufficiently evaluated not reviewed unknown Array 106 10144 0.0104495 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 0 N - - PARD3 Ser801Asn S801N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARD3 Pro697Ala P697A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARD3B Leu165Pro L165P not reviewed Insufficiently evaluated not reviewed unknown Array rs1510765 5754 9430 0.61018 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PARD3B Arg192Lys R192K not reviewed Insufficiently evaluated not reviewed unknown Array rs2289025 5707 9560 0.596967 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PARD3B Thr866Ile T866I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARD3B Thr873Ile T873I not reviewed Insufficiently evaluated not reviewed unknown Array rs10185378 1039 9976 0.10415 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PARD3B Pro1044His P1044H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PARD3B Pro1076His P1076H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PARD3B Pro1083His P1083H not reviewed Insufficiently evaluated not reviewed unknown Array 194 9964 0.0194701 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PARD6B Thr108Met T108M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730982 268 10758 0.0249117 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.954 - - 2 - 2 N - - PARD6B Asp366Gly D366G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 2 N - - PARG Lys648Gln K648Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.698 - - -2 - 1 N - - PARG Arg645Stop R645X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PARG Ile282Thr I282T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARG His242Asp H242D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARG Leu138Pro L138P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PARK2 Asp245Asn D245N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PARK2 Asp366Asn D366N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PARK2 Asp394Asn D394N not reviewed Insufficiently evaluated not reviewed unknown Array rs1801334 343 10758 0.0318832 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -1 - 3 - 5 - - PARK2 Val231Leu V231L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PARK2 Val352Leu V352L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PARK2 Val380Leu V380L not reviewed Insufficiently evaluated not reviewed unknown Array rs1801582 1916 10758 0.1781 16 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 9 - - PARK2 Ser167Asn S167N not reviewed Insufficiently evaluated not reviewed unknown Array rs1801474 436 10758 0.040528 12 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - PARK2 Pro153Arg P153R pathogenic Insufficiently evaluated pathogenic recessive Array rs55654276 54 10758 0.00501952 2 0 2 2 2 - - - - - - - - - - - - Y - - - 0.899 Y Y 5 Y Parkin Type of Juvenile Parkinson Disease 1 56 0 57 INF 5 - 2 - - This variant was implicated in Parkinson's Disease in two individuals. PARK2 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 1 - 5 - 5 - - PARK7 Arg156Trp R156W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - PARL Val212Leu V212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARL Val262Leu V262L not reviewed Insufficiently evaluated not reviewed unknown Array rs3732581 5235 10756 0.486705 36 0 49 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - PARN Val503Ile V503I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PARN Val564Ile V564I not reviewed Insufficiently evaluated not reviewed unknown Array 75 9738 0.00770179 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PARP1 Pro956Ser P956S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PARP1 Val762Ala V762A not reviewed Insufficiently evaluated not reviewed unknown Array rs1136410 1322 10758 0.122885 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 1 N - - PARP1 Val408Gly V408G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.187 - - 8 Y 0 N - - PARP1 Pro377Ser P377S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 1 - 6 - - PARP1 Val334Ile V334I not reviewed Insufficiently evaluated not reviewed unknown Array rs3219057 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 9 - - PARP10 Val630Ala V630A not reviewed Insufficiently evaluated not reviewed unknown Array rs11544989 7280 10652 0.68344 43 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PARP10 Ser507Gly S507G not reviewed Insufficiently evaluated not reviewed unknown Array 1076 10752 0.100074 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.914 - - 2 - 1 N - - PARP10 Leu395Pro L395P not reviewed Insufficiently evaluated not reviewed unknown Array rs11136343 4797 10758 0.445901 36 0 48 0 0 - - - - - - - - - - - - - - - - 0.263 - - 7 Y 0 N - - PARP10 Gln326Stop Q326X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PARP10 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array rs11136344 5211 10758 0.484384 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PARP12 Asp657Val D657V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.23 - - 8 Y 1 N - - PARP12 Val463Met V463M not reviewed Insufficiently evaluated not reviewed unknown Array rs35456446 542 10758 0.0503811 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.867 - - 0 - 1 N - - PARP12 Val293Ile V293I not reviewed Insufficiently evaluated not reviewed unknown Array rs34111764 1342 10758 0.124744 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - PARP14 Arg450Lys R450K not reviewed Insufficiently evaluated not reviewed unknown Array rs11719086 1974 9610 0.205411 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PARP14 Asp488Asn D488N not reviewed Insufficiently evaluated not reviewed unknown Array rs16833413 97 9620 0.0100832 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - PARP14 Ala561Glu A561E not reviewed Insufficiently evaluated not reviewed unknown Array rs13093808 784 9548 0.0821114 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PARP14 Thr631Ala T631A not reviewed Insufficiently evaluated not reviewed unknown Array rs7632072 565 9588 0.0589278 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - PARP15 Val42Met V42M not reviewed Insufficiently evaluated not reviewed unknown Array rs1875272 798 3234 0.246753 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PARP15 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array rs7632426 369 3234 0.1141 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PARP15 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array rs59971113 19 3234 0.00587508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARP15 Arg103Lys R103K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PARP15 Arg337Lys R337K not reviewed Insufficiently evaluated not reviewed unknown Array rs6793271 920 10756 0.0855337 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PARP15 Ala287Thr A287T not reviewed Insufficiently evaluated not reviewed unknown Array rs34383355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 2 N - - PARP15 Ala521Thr A521T not reviewed Insufficiently evaluated not reviewed unknown Array rs34383355 220 10758 0.0204499 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP15 Gly394Arg G394R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PARP15 Gly628Arg G628R not reviewed Insufficiently evaluated not reviewed unknown Array rs12489170 1376 10758 0.127905 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PARP2 Asp222Gly D222G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 7 - - PARP2 Asp235Gly D235G not reviewed Insufficiently evaluated not reviewed unknown Array 154 9622 0.016005 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - 4 Y 2 - 9 - - PARP3 His100Arg H100R not reviewed Insufficiently evaluated not reviewed unknown Array rs28547534 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PARP3 His107Arg H107R not reviewed Insufficiently evaluated not reviewed unknown Array rs28547534 10230 10308 0.992433 47 0 94 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PARP3 Gln269Arg Q269R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP3 Gln276Arg Q276R not reviewed Insufficiently evaluated not reviewed unknown Array rs323870 501 10218 0.0490311 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP3 Gly385Ser G385S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PARP3 Gly392Ser G392S not reviewed Insufficiently evaluated not reviewed unknown Array 166 10320 0.0160853 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARP4 Ala1656Pro A1656P not reviewed Insufficiently evaluated not reviewed unknown Array rs7571 4748 10758 0.441346 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PARP4 Gln1634Leu Q1634L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PARP4 Ile1564Thr I1564T not reviewed Insufficiently evaluated not reviewed unknown Array rs1372085 10017 10758 0.931121 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PARP4 Leu1550Pro L1550P not reviewed Insufficiently evaluated not reviewed unknown Array rs1822135 9997 10758 0.929262 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PARP4 Ser1459Tyr S1459Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45439895 9989 10754 0.928864 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PARP4 Ser1394Ala S1394A not reviewed Insufficiently evaluated not reviewed unknown Array rs9511259 10020 10758 0.9314 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PARP4 Ala1361Glu A1361E not reviewed Insufficiently evaluated not reviewed unknown Array rs62000386 290 10758 0.0269567 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARP4 Ala1331Thr A1331T not reviewed Insufficiently evaluated not reviewed unknown Array rs1050114 630 10758 0.0585611 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PARP4 Pro1328Thr P1328T not reviewed Insufficiently evaluated not reviewed unknown Array rs1050112 4375 10758 0.406674 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PARP4 Gly1280Arg G1280R not reviewed Insufficiently evaluated not reviewed unknown Array rs13428 4377 10758 0.40686 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PARP4 Gly1265Ala G1265A not reviewed Insufficiently evaluated not reviewed unknown Array rs1050110 4388 10758 0.407883 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PARP4 Arg1108Cys R1108C not reviewed Insufficiently evaluated not reviewed unknown Array rs9318554 9258 10758 0.860569 49 0 86 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PARP4 Leu1080Arg L1080R not reviewed Insufficiently evaluated not reviewed unknown Array rs9318558 9993 10752 0.929408 44 0 84 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PARP4 Val1065Ala V1065A not reviewed Insufficiently evaluated not reviewed unknown Array rs7334587 6016 10758 0.559212 17 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PARP4 Gln1059Arg Q1059R not reviewed Insufficiently evaluated not reviewed unknown Array 2464 10758 0.229039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PARP4 Ile1039Thr I1039T not reviewed Insufficiently evaluated not reviewed unknown Array 3259 10758 0.302937 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PARP4 Gly1022Val G1022V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PARP4 Val1012Ile V1012I not reviewed Insufficiently evaluated not reviewed unknown Array rs9581043 1861 10758 0.172988 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PARP4 Lys991Arg K991R not reviewed Insufficiently evaluated not reviewed unknown Array rs34689435 150 10758 0.0139431 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - PARP4 Met936Thr M936T not reviewed Insufficiently evaluated not reviewed unknown Array rs4770684 10022 10758 0.931586 42 0 79 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PARP4 Met936Val M936V not reviewed Insufficiently evaluated not reviewed unknown Array rs1130943 664 10758 0.0617215 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PARP4 Ala899Thr A899T not reviewed Insufficiently evaluated not reviewed unknown Array rs2275660 7318 10758 0.680238 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PARP4 Ser873Asn S873N not reviewed Insufficiently evaluated not reviewed unknown Array rs7140044 2052 10758 0.190742 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PARP4 Lys509Arg K509R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PARP4 His490Gln H490Q not reviewed Insufficiently evaluated not reviewed unknown Array 905 10758 0.0841234 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PARP4 Phe215Tyr F215Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9318600 1321 10756 0.122815 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PARP4 Ser122Asn S122N not reviewed Insufficiently evaluated not reviewed unknown Array rs9578751 1167 10758 0.108477 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PARP4 Leu118Val L118V not reviewed Insufficiently evaluated not reviewed unknown Array rs61652090 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP4 Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array rs35200240 338 10758 0.0314185 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - PARP8 Pro503Ser P503S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PARP9 Thr616Ala T616A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - PARP9 Thr651Ala T651A not reviewed Insufficiently evaluated not reviewed unknown Array rs6780543 242 10758 0.0224949 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 4 - - PARP9 Tyr493Cys Y493C not reviewed Insufficiently evaluated not reviewed unknown Array rs9851180 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PARP9 Tyr528Cys Y528C not reviewed Insufficiently evaluated not reviewed unknown Array rs9851180 5761 10758 0.535508 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PARP9 Ile482Val I482V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PARP9 Ile517Val I517V not reviewed Insufficiently evaluated not reviewed unknown Array rs28365795 1539 10758 0.143056 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.978 - - -4 - 1 N - - PARP9 Thr295Met T295M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARP9 Thr330Met T330M not reviewed Insufficiently evaluated not reviewed unknown Array rs72960494 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.802 - - 2 - 1 N - - PARP9 Arg111Lys R111K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - -3 - 1 N - - PARP9 Arg76Lys R76K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PARP9 Ser21Leu S21L not reviewed Insufficiently evaluated not reviewed unknown Array rs34006803 952 10758 0.0884923 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.87 - - 6 Y 1 N - - PARS2 Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array rs2270004 1569 10758 0.145845 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PARS2 Arg28Ser R28S not reviewed Insufficiently evaluated not reviewed unknown Array rs11577368 1271 10758 0.118145 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 0 N - - PARVB Trp37Arg W37R not reviewed Insufficiently evaluated not reviewed unknown Array rs1007863 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PARVB Pro52Arg P52R not reviewed Insufficiently evaluated not reviewed unknown Array rs34476853 219 10758 0.0203569 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 3 - 5 - - PARVB Pro85Arg P85R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 5 - - PARVB Val58Ala V58A not reviewed Insufficiently evaluated not reviewed unknown Array rs1983609 8864 10758 0.823945 53 0 97 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PARVB Val91Ala V91A not reviewed Insufficiently evaluated not reviewed unknown Array rs1983609 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARVB Asp128Ala D128A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PARVB Asp95Ala D95A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - PARVG Gln318Stop Q318X not reviewed Insufficiently evaluated not reviewed unknown Array rs73428406 47 10758 0.00436884 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PASD1 Lys76Thr K76T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - PASD1 Gln213Stop Q213X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - PASD1 Gln213Glu Q213E not reviewed Insufficiently evaluated not reviewed unknown Array rs5924658 1641 8761 0.187307 13 0 20 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 0 N - - PASD1 Met258Val M258V not reviewed Insufficiently evaluated not reviewed unknown Array 34 8761 0.00388083 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PASK Phe1266Cys F1266C not reviewed Insufficiently evaluated not reviewed unknown Array rs1131293 2525 10758 0.234709 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PASK Val1210Met V1210M not reviewed Insufficiently evaluated not reviewed unknown Array rs10167000 509 10758 0.0473136 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PASK Tyr899His Y899H not reviewed Insufficiently evaluated not reviewed unknown Array 211 10758 0.0196133 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 3 - 1 - - PASK Val878Met V878M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.559 - - 0 - 1 N - - PASK Thr850Met T850M not reviewed Insufficiently evaluated not reviewed unknown Array rs73112175 273 10758 0.0253765 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.034 - - 2 - 1 - 1 - - PASK Pro844Gln P844Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36082918 454 10758 0.0422012 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.374 - - 4 Y 2 - 3 - - PASK Gly725Asp G725D not reviewed Insufficiently evaluated not reviewed unknown Array rs2005771 35 10758 0.00325339 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 1 - 6 - - PASK Val694Met V694M not reviewed Insufficiently evaluated not reviewed unknown Array rs6727226 271 10758 0.0251906 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 3 - 6 - - PASK Leu514Ser L514S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240543 37 10758 0.0034393 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 7 - - PASK Val250Ile V250I not reviewed Insufficiently evaluated not reviewed unknown Array rs1470414 3157 10758 0.293456 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PASK Met220Val M220V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PATE1 Val46Ile V46I not reviewed Insufficiently evaluated not reviewed unknown Array rs537916 3339 10758 0.310374 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.55 - - -4 - 0 N - - PATE1 Gln47Arg Q47R not reviewed Insufficiently evaluated not reviewed unknown Array rs2114084 3438 10758 0.319576 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 1 N - - PATE4 Cys90Gly C90G not reviewed Insufficiently evaluated not reviewed unknown Array 302 3234 0.0933828 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PATL1 Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.361 - - -4 - 1 N - - PATL2 Met88Val M88V not reviewed Insufficiently evaluated not reviewed unknown Array rs8026845 3217 3234 0.994743 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PATZ1 Glu639Asp E639D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PATZ1 Glu685Asp E685D not reviewed Insufficiently evaluated not reviewed unknown Array rs2240424 261 10758 0.024261 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.711 - - -2 - 1 N - - PAWR Ile199Met I199M not reviewed Insufficiently evaluated not reviewed unknown Array rs2307223 2516 10758 0.233872 30 0 48 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PAWR Pro78Arg P78R not reviewed Insufficiently evaluated not reviewed unknown Array rs8176805 115 1572 0.0731552 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - PAX4 His321Pro H321P not reviewed Insufficiently evaluated not reviewed unknown Array rs712701 8277 10754 0.769667 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PAX4 His321Leu H321L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 9 - - PAX4 Arg192His R192H not reviewed Insufficiently evaluated not reviewed unknown Array rs2233580 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - PAX7 Arg484Lys R484K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PAX7 Arg486Lys R486K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PAX9 Ala240Pro A240P not reviewed Insufficiently evaluated not reviewed unknown Array rs4904210 3321 10674 0.31113 36 0 42 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 6 - - PAXIP1 Met1013Val M1013V not reviewed Insufficiently evaluated not reviewed unknown Array rs3501 2130 10090 0.2111 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PBK Asn107Ser N107S not reviewed Insufficiently evaluated not reviewed unknown Array rs3779620 1655 10758 0.153839 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PBK Lys87Met K87M not reviewed Insufficiently evaluated not reviewed unknown Array rs62001048 189 10754 0.0175749 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - PBLD His257Arg H257R not reviewed Insufficiently evaluated not reviewed unknown Array rs4142048 2525 10758 0.234709 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PBLD Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PBLD Arg17Cys R17C not reviewed Insufficiently evaluated not reviewed unknown Array rs12359690 480 10758 0.044618 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - PBOV1 Ile73Thr I73T not reviewed Insufficiently evaluated not reviewed unknown Array rs6927706 1054 10758 0.0979736 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PBOV1 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73774688 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PBRM1 Leu1188Arg L1188R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PBRM1 Leu1195Arg L1195R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PBRM1 Leu1220Arg L1220R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - PBRM1 Lys849Gln K849Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PBRM1 Lys881Gln K881Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.723 - - -2 - 1 N - - PBX1 Gly21Ser G21S not reviewed Insufficiently evaluated not reviewed unknown Array 1424 9954 0.143058 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PBX4 Thr154Met T154M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - PBXIP1 Leu404Gln L404Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 5 Y 2 N - - PBXIP1 Gly357Asp G357D not reviewed Insufficiently evaluated not reviewed unknown Array rs2061690 3799 10758 0.353133 34 0 53 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PCBP4 Val167Ile V167I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCBP4 Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PCBP4 Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCBP4 Gly164Ser G164S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCBP4 Gly198Ser G198S not reviewed Insufficiently evaluated not reviewed unknown Array rs323872 517 10752 0.0480841 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCBP4 Gly219Ser G219S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCCA Trp533Leu W533L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - PCCA Trp559Leu W559L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 - 1 - - PCCB Cys291Tyr C291Y not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.954 Y - 6 Y 3 N - - PCDH1 Gly903Ser G903S not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH1 His25Pro H25P not reviewed Insufficiently evaluated not reviewed unknown Array rs12515587 3260 10750 0.303256 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PCDH1 Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array rs12517385 71 10746 0.00660711 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDH10 Ile45Met I45M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.353 - - -1 - 1 N - - PCDH11X Thr420Asn T420N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - PCDH11X Thr486Met T486M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PCDH11X Met491Thr M491T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - PCDH11X Lys500Glu K500E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDH11X Cys517Arg C517R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCDH11X Asn576Lys N576K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.909 - - 1 - 2 N - - PCDH11X Ser678Tyr S678Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 5 Y 2 N - - PCDH11X Cys680Tyr C680Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDH11X Thr790Ile T790I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH11X Lys849Met K849M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - PCDH11X Phe885Val F885V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 3 - 10 - - PCDH11X Ser958Leu S958L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 6 Y 0 N - - PCDH11X Lys980Asn K980N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 3 - 10 - - PCDH11X Arg1018Gln R1018Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 8761 0.00604954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 1 - 3 - - PCDH11Y Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH11Y Val906Phe V906F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH11Y Val917Phe V917F not reviewed Insufficiently evaluated not reviewed unknown Array rs2524543 19 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH11Y Asn1001Lys N1001K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PCDH11Y Asn1012Lys N1012K not reviewed Insufficiently evaluated not reviewed unknown Array rs2563389 19 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PCDH11Y Val1187Ala V1187A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PCDH11Y Gly1221Ala G1221A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDH11Y Ser1253Pro S1253P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH11Y Asn1280Asp N1280D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDH11Y Ala1320Thr A1320T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - PCDH12 Gly1176Ser G1176S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - PCDH12 Arg1175Ser R1175S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PCDH12 Pro879Ala P879A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737138 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PCDH12 Ser640Asn S640N not reviewed Insufficiently evaluated not reviewed unknown Array rs164515 2402 10758 0.223276 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDH12 His385Asn H385N not reviewed Insufficiently evaluated not reviewed unknown Array rs164075 6826 10758 0.634505 52 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDH15 Gln1656Pro Q1656P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PCDH15 Gln1661Pro Q1661P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PCDH15 Glu1618Ala E1618A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ile1834Val I1834V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Ile1863Val I1863V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Ile1880Val I1880V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Ile1883Val I1883V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Ile1900Val I1900V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Ile1903Val I1903V not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - PCDH15 Ile1905Val I1905V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Ile1910Val I1910V not reviewed Insufficiently evaluated not reviewed unknown Array 471 10758 0.0437814 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Pro1718Ser P1718S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.965 Y Y 3 - 4 N - - PCDH15 Pro1747Ser P1747S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Pro1764Ser P1764S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Pro1767Ser P1767S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Pro1784Ser P1784S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Pro1787Ser P1787S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Pro1789Ser P1789S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Pro1794Ser P1794S not reviewed Insufficiently evaluated not reviewed unknown Array rs61862390 93 10728 0.0086689 1 0 1 0 0 0 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1562Glu A1562E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1591Glu A1591E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1608Glu A1608E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1611Glu A1611E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1628Glu A1628E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1631Glu A1631E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 3 - 2 N - - PCDH15 Ala1633Glu A1633E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ala1638Glu A1638E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Gln1271Lys Q1271K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Gln1305Lys Q1305K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Gln1320Lys Q1320K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Gln1342Lys Q1342K pathogenic Insufficiently evaluated pathogenic recessive Array rs61731387 1 124 0.00806452 1 0 1 1 1 - - - - - - - - - - - - Y - - - 0.997 Y Y -2 - Usher Syndrome Type 1F 1 113 0 100 INF 5 - 3 - - This variant was found as a compound heterozygote (together with T1867del) in a Caucasian individual with Usher syndrome type I. PCDH15 Gln1347Lys Q1347K not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Gln1354Lys Q1354K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Tyr1110Stop Y1110X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 3 Y 0 - 0 - 0 - 4 - 1 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. PCDH15 Tyr1144Stop Y1144X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 3 Y 0 - 0 - 0 - 4 - 1 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. PCDH15 Tyr1159Stop Y1159X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 3 Y 0 - 0 - 0 - 4 - 1 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. PCDH15 Tyr1181Stop Y1181X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 3 Y 0 - 0 - 0 - 4 - 1 - Y - - - - Y Y 10 Y 5 - 1 - - This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. PCDH15 Tyr1186Stop Y1186X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 3 Y 0 - 0 - 0 - 4 - 1 - Y - - - - Y Y 10 Y 4 N - - This is a nonsense mutation which eliminates the terminal ~40% of this protein. There are no reports regarding this variant. Other mutations in this gene are associated with causing Usher syndrome and deafness in a recessive manner, but all variants in OMIM occur on amino acids preceding this one (closest is 647). Based on the severity of a nonsense mutation and the associations of this gene with severe disease, we tentatively classify this as pathogenic and recessive. PCDH15 Tyr1193Stop Y1193X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PCDH15 Arg858Gln R858Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Arg892Gln R892Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Arg907Gln R907Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Arg929Gln R929Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2135720 24 128 0.1875 19 0 21 0 0 - - - - - - - - - - - - Y - - - 0.54 Y Y 0 - 3 - 2 - - PCDH15 Arg934Gln R934Q not reviewed Insufficiently evaluated not reviewed unknown Array 2251 10758 0.20924 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - PCDH15 Arg941Gln R941Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Asn600Ser N600S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Asn615Ser N615S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Asn637Ser N637S benign Low clinical importance, Uncertain benign unknown Array rs61731389 6 124 0.0483871 3 0 3 1 1 0 Y - - 4 Y - - - - - - Y - - - 0.909 Y Y 0 - 5 Y 0 0 Probably non-pathogenic. Found in a gene associated with Usher syndrome and predicted damaging by Polyphen 2, but 5% allele frequency in controls strongly contradicts any severe high penetrance effect. PCDH15 Asn642Ser N642S not reviewed Insufficiently evaluated not reviewed unknown Array 341 10758 0.0316973 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Asn649Ser N649S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCDH15 Asp398Ala D398A not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PCDH15 Asp413Ala D413A not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PCDH15 Asp435Ala D435A not reviewed Insufficiently evaluated not reviewed unknown Array rs4935502 31 128 0.242188 20 0 29 0 0 5 Y - - - - - - - - - - Y - - - 0.971 Y Y 5 Y 4 - 2 - - PCDH15 Asp440Ala D440A not reviewed Insufficiently evaluated not reviewed unknown Array rs4935502 1413 10758 0.131344 4 0 5 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - PCDH15 Gly343Ser G343S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Gly358Ser G358S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Gly380Ser G380S not reviewed Insufficiently evaluated not reviewed unknown Array rs10825269 29 128 0.226562 22 0 29 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 2 - - PCDH15 Gly385Ser G385S not reviewed Insufficiently evaluated not reviewed unknown Array 2529 10758 0.235081 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - PCDH15 Ser19Ala S19A not reviewed Insufficiently evaluated not reviewed unknown Array rs11004439 2347 10758 0.218163 19 0 21 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y -1 - 3 - 4 - - PCDH20 Ile534Val I534V not reviewed Insufficiently evaluated not reviewed unknown Array rs35945287 75 10758 0.00697156 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDH20 Ser39Arg S39R not reviewed Insufficiently evaluated not reviewed unknown Array rs3812874 512 10756 0.0476013 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH21 His53Gln H53Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PCDH21 Arg162Ser R162S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH21 Ala243Val A243V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH21 Pro812Ser P812S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDH24 Val424Ala V424A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH24 Val457Ile V457I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDH24 Met465Leu M465L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCDH24 Leu766Pro L766P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDH24 Leu842Val L842V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDH24 Thr1011Asn T1011N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDH24 Thr1128Met T1128M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH24 Leu1164Met L1164M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCDH8 Trp7Arg W7R not reviewed Insufficiently evaluated not reviewed unknown Array rs3742301 2053 10754 0.190906 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 1 N - - PCDHA1 Ser434Pro S434P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA1 Ala479Val A479V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA1 Val549Met V549M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA1 Leu666Phe L666F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA1 Tyr718Cys Y718C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA1 Tyr732Cys Y732C not reviewed Insufficiently evaluated not reviewed unknown Array rs2240696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA1 Cys759Phe C759F not reviewed Insufficiently evaluated not reviewed unknown Array rs2240695 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA10 Ser439Arg S439R not reviewed Insufficiently evaluated not reviewed unknown Array rs251362 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA10 Ser490Tyr S490Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHA10 Val585Gly V585G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCDHA10 Thr639Ala T639A not reviewed Insufficiently evaluated not reviewed unknown Array rs630162 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA10 Tyr697Asp Y697D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHA10 Phe808Leu F808L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA10 Phe831Ile F831I not reviewed Insufficiently evaluated not reviewed unknown Array rs62384480 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA12 Asp598Gly D598G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA12 Ala618Thr A618T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA12 Val707Glu V707E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHA13 Gly72Arg G72R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA2 Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array rs9686540 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA2 Val106Leu V106L not reviewed Insufficiently evaluated not reviewed unknown Array rs11167600 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA2 Pro676Arg P676R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHA2 Pro764Leu P764L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - PCDHA3 Pro61Gln P61Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA3 Ser286Leu S286L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA3 Ile289Thr I289T not reviewed Insufficiently evaluated not reviewed unknown Array rs3733709 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA3 Ile318Val I318V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHA3 Ser440Arg S440R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA3 Ser440Ile S440I not reviewed Insufficiently evaluated not reviewed unknown Array rs7701755 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHA3 Cys759Tyr C759Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2240694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA3 Thr819Ala T819A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PCDHA4 Glu55Asp E55D not reviewed Insufficiently evaluated not reviewed unknown Array rs11167605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHA4 Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA4 Gly72Arg G72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PCDHA4 Gly73Asp G73D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA4 Phe133Ile F133I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA4 Pro184Ser P184S not reviewed Insufficiently evaluated not reviewed unknown Array rs3822346 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA4 Ile298Val I298V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHA4 Ala731Thr A731T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA5 Leu20Phe L20F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA5 Lys39Ile K39I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA5 Thr353Asn T353N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA5 Ala691Val A691V not reviewed Insufficiently evaluated not reviewed unknown Array rs4141841 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA6 Ser417Arg S417R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA6 Leu585Val L585V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA7 Arg138Lys R138K not reviewed Insufficiently evaluated not reviewed unknown Array rs10067182 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCDHA8 Pro61Gln P61Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA8 Phe64Leu F64L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA8 Ser78Asn S78N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA8 Arg417Ser R417S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA8 Ile508Met I508M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHA8 Ala519Ser A519S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHA8 Pro543Gln P543Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA8 Asn561Ser N561S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA8 Lys579Glu K579E not reviewed Insufficiently evaluated not reviewed unknown Array rs6580012 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA8 Ala691Glu A691E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA9 Ser28Arg S28R not reviewed Insufficiently evaluated not reviewed unknown Array rs251353 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA9 Phe64Leu F64L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PCDHA9 Asp111Glu D111E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHA9 Leu336Val L336V not reviewed Insufficiently evaluated not reviewed unknown Array rs251354 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA9 Gly430Arg G430R not reviewed Insufficiently evaluated not reviewed unknown Array rs251355 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA9 Ala452Glu A452E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA9 Glu501Gln E501Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHA9 Val712Phe V712F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA9 Lys764Gln K764Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35021536 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHA9 Lys764Thr K764T not reviewed Insufficiently evaluated not reviewed unknown Array rs369639 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHAC1 Val467Met V467M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHAC1 Pro492Ser P492S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHAC1 Leu498Val L498V not reviewed Insufficiently evaluated not reviewed unknown Array rs246074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHAC1 Ala715Ser A715S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHAC1 Pro735Leu P735L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHB1 Lys719Ile K719I not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - PCDHB10 Thr213Arg T213R not reviewed Insufficiently evaluated not reviewed unknown Array rs2907323 1329 10758 0.123536 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.885 - - 3 - 2 - 1 - - PCDHB10 Ile413Ser I413S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHB10 Pro492Arg P492R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 1 - 1 - - PCDHB10 Arg543Ser R543S not reviewed Insufficiently evaluated not reviewed unknown Array rs17844658 4736 10732 0.441297 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PCDHB10 Arg639Ser R639S not reviewed Insufficiently evaluated not reviewed unknown Array 186 9916 0.0187576 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.502 - - 3 - 1 N - - PCDHB10 Ser750Asn S750N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741452 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PCDHB11 Gln4Arg Q4R not reviewed Insufficiently evaluated not reviewed unknown Array rs3756323 2109 10758 0.19604 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB11 Arg7His R7H not reviewed Insufficiently evaluated not reviewed unknown Array rs917535 794 10758 0.0738055 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDHB11 Leu205Arg L205R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHB11 Thr452Ser T452S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739365 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - PCDHB11 Asp528Glu D528E not reviewed Insufficiently evaluated not reviewed unknown Array rs799834 5493 10758 0.510597 30 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PCDHB12 Thr8Asn T8N not reviewed Insufficiently evaluated not reviewed unknown Array rs73791825 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB12 Asn274Ser N274S not reviewed Insufficiently evaluated not reviewed unknown Array rs58362260 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - PCDHB12 Thr420Ile T420I not reviewed Insufficiently evaluated not reviewed unknown Array rs2910327 1589 10758 0.147704 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - PCDHB12 Val727Met V727M not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - PCDHB12 His750Arg H750R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738374 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB12 Lys763Glu K763E not reviewed Insufficiently evaluated not reviewed unknown Array rs2910006 5115 10758 0.47546 32 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB13 Thr152Ala T152A not reviewed Insufficiently evaluated not reviewed unknown Array rs2860678 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB13 Val163Ile V163I not reviewed Insufficiently evaluated not reviewed unknown Array rs2860677 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHB13 Gly259Ser G259S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 1 - - PCDHB13 Arg471Gly R471G not reviewed Insufficiently evaluated not reviewed unknown Array rs2910329 4936 10750 0.459163 17 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PCDHB13 Val550Leu V550L not reviewed Insufficiently evaluated not reviewed unknown Array 1069 10750 0.0994419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB13 Val644Ile V644I not reviewed Insufficiently evaluated not reviewed unknown Array rs17844615 1031 8290 0.124367 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.985 - - -4 - 1 N - - PCDHB14 Leu257Phe L257F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - PCDHB14 Ala448Thr A448T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731253 232 10758 0.0215653 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - PCDHB14 Val473Ile V473I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10754 0.00520736 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PCDHB14 Arg496Pro R496P not reviewed Insufficiently evaluated not reviewed unknown Array rs61997246 952 10758 0.0884923 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PCDHB14 Pro672Arg P672R not reviewed Insufficiently evaluated not reviewed unknown Array 211 10536 0.0200266 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.038 - - 5 Y 0 N - - PCDHB15 His177Tyr H177Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - -1 - 0 N - - PCDHB15 Ser474Arg S474R not reviewed Insufficiently evaluated not reviewed unknown Array rs618506 1717 10738 0.159899 12 0 17 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - PCDHB15 Arg494Gln R494Q not reviewed Insufficiently evaluated not reviewed unknown Array rs618096 6841 10758 0.635899 43 0 70 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PCDHB15 Ala570Val A570V not reviewed Insufficiently evaluated not reviewed unknown Array 1353 10446 0.129523 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - PCDHB15 Arg625Leu R625L not reviewed Insufficiently evaluated not reviewed unknown Array 634 10494 0.0604155 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - PCDHB15 Pro669Leu P669L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PCDHB15 Gln680Glu Q680E not reviewed Insufficiently evaluated not reviewed unknown Array 212 10726 0.0197651 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - PCDHB16 Arg202Gln R202Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743469 525 10758 0.0488009 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - PCDHB16 Leu208Val L208V not reviewed Insufficiently evaluated not reviewed unknown Array rs28398442 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 1 - 1 - - PCDHB16 Gly224Arg G224R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 6 Y 2 N - - PCDHB16 Val347Leu V347L not reviewed Insufficiently evaluated not reviewed unknown Array rs28664170 2109 10758 0.19604 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB16 Thr482Ile T482I not reviewed Insufficiently evaluated not reviewed unknown Array rs17844646 1711 10714 0.159698 12 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PCDHB16 Ala508Thr A508T not reviewed Insufficiently evaluated not reviewed unknown Array rs56327450 1764 10494 0.168096 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDHB16 Arg525Gln R525Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743500 67 8406 0.0079705 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB16 Ser543Arg S543R not reviewed Insufficiently evaluated not reviewed unknown Array rs702386 73 8650 0.00843931 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - PCDHB16 Ser596Leu S596L not reviewed Insufficiently evaluated not reviewed unknown Array 119 9756 0.0121976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - PCDHB16 Gln638His Q638H not reviewed Insufficiently evaluated not reviewed unknown Array rs17844664 1282 10192 0.125785 12 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PCDHB16 Arg652Cys R652C not reviewed Insufficiently evaluated not reviewed unknown Array rs13176519 1604 10398 0.15426 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - PCDHB16 Ala710Val A710V not reviewed Insufficiently evaluated not reviewed unknown Array rs17844666 1712 10714 0.159791 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PCDHB2 Ile58Met I58M not reviewed Insufficiently evaluated not reviewed unknown Array rs73269902 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHB2 Asn380Lys N380K not reviewed Insufficiently evaluated not reviewed unknown Array rs73793576 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PCDHB2 Ala450Asp A450D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.634 - - 5 Y 1 N - - PCDHB2 Ala536Thr A536T not reviewed Insufficiently evaluated not reviewed unknown Array rs17844376 2037 10758 0.189347 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDHB3 Ile142Thr I142T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - PCDHB3 Glu207Lys E207K not reviewed Insufficiently evaluated not reviewed unknown Array rs12515688 1999 10758 0.185815 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.555 - - 0 - 0 N - - PCDHB3 Arg414Ser R414S not reviewed Insufficiently evaluated not reviewed unknown Array rs3733699 2012 10758 0.187024 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - PCDHB3 Ile454Thr I454T not reviewed Insufficiently evaluated not reviewed unknown Array rs17844392 572 10756 0.0531796 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - PCDHB3 Thr534Ala T534A not reviewed Insufficiently evaluated not reviewed unknown Array rs13157538 182 10754 0.0169239 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 1 - 2 - - PCDHB3 Gly594Ser G594S not reviewed Insufficiently evaluated not reviewed unknown Array 370 9932 0.0372533 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 2 - - PCDHB4 Pro255Ser P255S not reviewed Insufficiently evaluated not reviewed unknown Array 1892 10758 0.175869 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - PCDHB4 Pro255Leu P255L not reviewed Insufficiently evaluated not reviewed unknown Array 1894 10758 0.176055 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.161 - - 7 Y 0 N - - PCDHB4 Ala421Thr A421T not reviewed Insufficiently evaluated not reviewed unknown Array rs3776099 563 10758 0.0523331 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDHB4 Gln484Arg Q484R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10728 0.00260999 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PCDHB4 Thr553Ala T553A not reviewed Insufficiently evaluated not reviewed unknown Array rs246669 1977 10736 0.184147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDHB4 Leu639Ile L639I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10286 0.000388878 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.477 - - -2 - 1 N - - PCDHB4 Arg651Cys R651C not reviewed Insufficiently evaluated not reviewed unknown Array rs17844417 501 10110 0.0495549 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.01 - - 8 Y 1 - 1 - - PCDHB5 Tyr87His Y87H not reviewed Insufficiently evaluated not reviewed unknown Array rs73271731 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHB5 Ile156Thr I156T not reviewed Insufficiently evaluated not reviewed unknown Array rs17096901 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB5 Ser720Pro S720P not reviewed Insufficiently evaluated not reviewed unknown Array rs400562 8704 10748 0.809825 36 0 64 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PCDHB5 Leu773Val L773V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB6 Gly41Asp G41D not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.761 - - 4 Y 1 N - - PCDHB6 Val231Ile V231I not reviewed Insufficiently evaluated not reviewed unknown Array rs3776096 1798 10758 0.167131 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - PCDHB6 Leu232Phe L232F not reviewed Insufficiently evaluated not reviewed unknown Array rs10076554 165 10758 0.0153374 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - PCDHB6 Ala294Ser A294S not reviewed Insufficiently evaluated not reviewed unknown Array rs35620136 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHB6 Val446Ala V446A not reviewed Insufficiently evaluated not reviewed unknown Array rs246707 24 24 1 10 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PCDHB6 Leu610Pro L610P not reviewed Insufficiently evaluated not reviewed unknown Array 708 10106 0.0700574 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PCDHB6 His636Gln H636Q not reviewed Insufficiently evaluated not reviewed unknown Array rs246703 6161 10354 0.595036 44 0 63 0 0 - - - - - - - - - - - - - - - - 0.393 - - -1 - 0 N - - PCDHB6 Gly776Asp G776D not reviewed Insufficiently evaluated not reviewed unknown Array rs17844444 1554 10758 0.144451 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PCDHB7 Gly57Arg G57R not reviewed Insufficiently evaluated not reviewed unknown Array rs28470552 796 10758 0.0739914 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PCDHB7 Glu187Lys E187K not reviewed Insufficiently evaluated not reviewed unknown Array rs17096946 769 10758 0.0714817 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PCDHB7 Val389Leu V389L not reviewed Insufficiently evaluated not reviewed unknown Array rs2910313 6520 10758 0.606061 48 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB7 Gly471Arg G471R not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 6 Y 1 N - - PCDHB7 Ala501Thr A501T not reviewed Insufficiently evaluated not reviewed unknown Array rs17844455 2054 10758 0.190928 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - PCDHB7 Ser568Gly S568G not reviewed Insufficiently evaluated not reviewed unknown Array rs13170917 67 10712 0.00625467 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - PCDHB7 Gln638His Q638H not reviewed Insufficiently evaluated not reviewed unknown Array rs1811238 631 10616 0.0594386 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PCDHB7 Val689Leu V689L not reviewed Insufficiently evaluated not reviewed unknown Array rs1811237 2286 10740 0.212849 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 0 N - - PCDHB7 Val690Leu V690L not reviewed Insufficiently evaluated not reviewed unknown Array 577 10742 0.0537144 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - PCDHB7 Arg716Trp R716W not reviewed Insufficiently evaluated not reviewed unknown Array rs2910314 1233 10750 0.114698 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 1 N - - PCDHB7 Ala717Val A717V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - PCDHB7 Pro786Ser P786S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB8 Glu169Lys E169K not reviewed Insufficiently evaluated not reviewed unknown Array rs61742706 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PCDHB8 Lys199Asn K199N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - 1 - 1 N - - PCDHB8 Glu244Gln E244Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2950844 10 126 0.0793651 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PCDHB8 Lys305Glu K305E not reviewed Insufficiently evaluated not reviewed unknown Array rs3733694 17 128 0.132812 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 0 N - - PCDHB8 Ala322Val A322V not reviewed Insufficiently evaluated not reviewed unknown Array rs7700833 8 128 0.0625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 1 N - - PCDHB8 Gly569Ser G569S not reviewed Insufficiently evaluated not reviewed unknown Array 1 36 0.0277778 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHB8 Arg579Trp R579W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.154 - - 7 Y 0 N - - PCDHB8 Gln639His Q639H not reviewed Insufficiently evaluated not reviewed unknown Array rs2740582 31 82 0.378049 17 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PCDHB8 Leu661Val L661V not reviewed Insufficiently evaluated not reviewed unknown Array rs2697541 55 62 0.887097 24 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB8 Ser745Asn S745N not reviewed Insufficiently evaluated not reviewed unknown Array rs17096961 15 120 0.125 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB8 Phe767Leu F767L not reviewed Insufficiently evaluated not reviewed unknown Array rs2740583 22 126 0.174603 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - PCDHB9 Arg124Ser R124S not reviewed Insufficiently evaluated not reviewed unknown Array rs2740588 1696 10724 0.15815 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PCDHB9 Ala151Gly A151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB9 Ser185Gly S185G not reviewed Insufficiently evaluated not reviewed unknown Array rs17844512 1747 10758 0.162391 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PCDHB9 Ala239Val A239V not reviewed Insufficiently evaluated not reviewed unknown Array rs11167743 4192 10758 0.389664 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PCDHB9 His496Arg H496R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGA1 Val152Ile V152I not reviewed Insufficiently evaluated not reviewed unknown Array rs2472647 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHGA1 Asp187Asn D187N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHGA1 His248Pro H248P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGA1 Thr778Ala T778A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGA10 Ile89Val I89V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHGA11 Phe104Leu F104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGA11 Asn546Tyr N546Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGA11 Ser816Tyr S816Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGA12 Ala559Glu A559E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGA12 Leu705Met L705M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCDHGA2 Asn429Ile N429I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGA2 Asp595Asn D595N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHGA2 Leu660Val L660V not reviewed Insufficiently evaluated not reviewed unknown Array rs35592458 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGA2 Phe806Leu F806L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGA3 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array rs11575947 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGA3 Ile154Leu I154L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHGA3 Ala743Val A743V not reviewed Insufficiently evaluated not reviewed unknown Array rs7736541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA4 Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGA4 Arg641Lys R641K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCDHGA6 Gln751Lys Q751K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHGA7 Pro23Thr P23T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHGA7 Glu188Gly E188G not reviewed Insufficiently evaluated not reviewed unknown Array rs2072315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHGA7 Thr239Met T239M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA8 Leu16Arg L16R not reviewed Insufficiently evaluated not reviewed unknown Array rs726684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHGA8 Asp234Val D234V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCDHGB2 Pro26Arg P26R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGB2 Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array rs13171859 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHGB2 Ala120Thr A120T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGB2 Arg679Pro R679P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGB2 Lys687Glu K687E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGB3 Val28Ala V28A not reviewed Insufficiently evaluated not reviewed unknown Array rs6860609 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGB3 Asn389Lys N389K not reviewed Insufficiently evaluated not reviewed unknown Array rs2240697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGB3 Pro579Thr P579T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHGB3 Arg635Ser R635S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGB4 Val232Glu V232E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGB5 Gly188Ser G188S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGB5 Asn554His N554H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGB6 Pro684Ser P684S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGB6 Ala722Thr A722T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGB6 Ser775Ala S775A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHGB7 Val405Leu V405L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGB7 Tyr418Stop Y418X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PCDHGB7 Val420Ala V420A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGB7 Asp426His D426H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGB7 Gly428Ser G428S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGB7 Gly485Arg G485R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHGC4 Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGC5 Asp570Gly D570G not reviewed Insufficiently evaluated not reviewed unknown Array rs2074912 1998 10758 0.185722 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PCDHGC5 Asp768His D768H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGC5 Glu873Gly E873G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDP1 Val351Ile V351I not reviewed Insufficiently evaluated not reviewed unknown Array rs2272058 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDP1 Met509Ile M509I not reviewed Insufficiently evaluated not reviewed unknown Array rs11686014 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCF11 Pro263Thr P263T not reviewed Insufficiently evaluated not reviewed unknown Array rs57047054 683 9598 0.0711607 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PCF11 Gly961Cys G961C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9780 0.000306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.76 - - 7 Y 1 N - - PCGF1 Arg240His R240H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PCGF1 Ile236Leu I236L not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - PCGF6 Pro170Leu P170L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - PCK1 Val184Leu V184L not reviewed Insufficiently evaluated not reviewed unknown Array rs707555 9715 10758 0.903049 54 0 96 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - PCK1 Ile267Val I267V not reviewed Insufficiently evaluated not reviewed unknown Array rs8192708 1055 10758 0.0980666 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.167 Y - -4 - 2 - 2 - - PCK1 Glu276Lys E276K not reviewed Insufficiently evaluated not reviewed unknown Array rs11552145 1570 10758 0.145938 10 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - PCK1 Arg436His R436H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - PCK2 Gln121Pro Q121P not reviewed Insufficiently evaluated not reviewed unknown Array rs3021119 128 128 1 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 - 1 - - PCK2 Met283Thr M283T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PCK2 Arg521His R521H not reviewed Insufficiently evaluated not reviewed unknown Array rs35618680 964 10758 0.0896077 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - PCLO Ser4814Ala S4814A not reviewed Insufficiently evaluated not reviewed unknown Array rs2522833 3151 9832 0.320484 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PCLO Gln3960Arg Q3960R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCLO Glu2925Asp E2925D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCLO Ala2804Thr A2804T not reviewed Insufficiently evaluated not reviewed unknown Array rs976714 2965 10206 0.290515 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCLO Thr2671Pro T2671P not reviewed Insufficiently evaluated not reviewed unknown Array rs10261848 579 9738 0.0594578 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PCLO Val2475Ile V2475I not reviewed Insufficiently evaluated not reviewed unknown Array rs10954696 2906 9918 0.293003 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PCLO Arg2330Gln R2330Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17148149 719 9616 0.0747712 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCLO Leu2294Pro L2294P not reviewed Insufficiently evaluated not reviewed unknown Array rs10487647 723 9648 0.0749378 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PCLO Phe2220Leu F2220L not reviewed Insufficiently evaluated not reviewed unknown Array rs10487648 1079 9580 0.11263 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCLO Asp1121Gly D1121G not reviewed Insufficiently evaluated not reviewed unknown Array rs28680905 498 10154 0.0490447 9 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCLO Ser814Thr S814T not reviewed Insufficiently evaluated not reviewed unknown Array rs2877 6659 9622 0.69206 48 0 84 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PCLO Ser531Pro S531P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCLO Ser520Pro S520P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCLO Ser501Pro S501P not reviewed Insufficiently evaluated not reviewed unknown Array rs6972461 2436 9880 0.246559 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PCLO Gln375His Q375H not reviewed Insufficiently evaluated not reviewed unknown Array 294 9996 0.0294118 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCLO Asp287Gly D287G not reviewed Insufficiently evaluated not reviewed unknown Array rs61741659 2038 10298 0.197903 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PCLO Pro229Leu P229L not reviewed Insufficiently evaluated not reviewed unknown Array 28 9846 0.00284379 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCM1 Asn159Ser N159S not reviewed Insufficiently evaluated not reviewed unknown Array rs41364448 7877 9670 0.814581 51 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCM1 Ala176Asp A176D not reviewed Insufficiently evaluated not reviewed unknown Array rs2285302 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 5 Y 3 - 2 - - PCM1 Met597Val M597V not reviewed Insufficiently evaluated not reviewed unknown Array rs208753 8044 9850 0.81665 50 0 83 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PCM1 Ala691Ser A691S not reviewed Insufficiently evaluated not reviewed unknown Array rs17635381 1060 9706 0.109211 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PCM1 Thr1543Ile T1543I not reviewed Insufficiently evaluated not reviewed unknown Array rs370429 654 9840 0.0664634 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.369 - - 3 - 0 N - - PCMT1 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array rs4816 5579 10756 0.518687 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PCMTD1 Glu328Lys E328K not reviewed Insufficiently evaluated not reviewed unknown Array 1270 10758 0.118052 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PCMTD1 Asn312Ile N312I not reviewed Insufficiently evaluated not reviewed unknown Array rs12335014 5299 10758 0.492564 11 0 15 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - PCMTD1 Ser302Arg S302R not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - PCMTD1 Asn286Thr N286T not reviewed Insufficiently evaluated not reviewed unknown Array rs62506083 4821 10758 0.448132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - PCMTD1 Val281Ala V281A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PCMTD1 Arg253Cys R253C not reviewed Insufficiently evaluated not reviewed unknown Array 4505 10758 0.418758 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 8 Y 0 N - - PCMTD1 Arg252Stop R252X not reviewed Insufficiently evaluated not reviewed unknown Array 1744 10758 0.162112 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PCMTD1 Arg248His R248H not reviewed Insufficiently evaluated not reviewed unknown Array 467 10758 0.0434096 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - PCNT His237Gln H237Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34500739 596 10758 0.0554006 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.088 - - -1 - 0 N - - PCNT Thr539Ile T539I not reviewed Insufficiently evaluated not reviewed unknown Array rs2249060 1265 10758 0.117587 17 0 22 0 0 - - - - - - - - - - - - Y - - - 0.009 - - 3 - 0 N - - PCNT Gly704Glu G704E not reviewed Insufficiently evaluated not reviewed unknown Array rs2839223 9613 10758 0.893568 50 0 90 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 0 N - - PCNT Thr879Ala T879A not reviewed Insufficiently evaluated not reviewed unknown Array rs2839227 2814 10712 0.262696 31 0 40 0 0 - - - - - - - - - - - - Y - - - 0.707 - - 1 - 0 N - - PCNT Val1038Ala V1038A not reviewed Insufficiently evaluated not reviewed unknown Array rs6518289 9499 10758 0.882971 50 0 88 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 0 N - - PCNT Arg1163Cys R1163C not reviewed Insufficiently evaluated not reviewed unknown Array rs7279204 1155 10758 0.107362 15 0 19 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 8 Y 1 N - - PCNT Arg1429Cys R1429C not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 8 Y 2 N - - PCNT Pro1524Arg P1524R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.16 - - 5 Y 0 N - - PCNT Ile1639Val I1639V not reviewed Insufficiently evaluated not reviewed unknown Array rs6518291 3421 10758 0.317996 33 0 43 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 0 N - - PCNT Asn1841Ser N1841S not reviewed Insufficiently evaluated not reviewed unknown Array rs35940413 2629 10756 0.244422 20 0 22 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - PCNT Arg1953His R1953H not reviewed Insufficiently evaluated not reviewed unknown Array rs34268261 525 10540 0.0498102 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.014 - - 1 - 0 N - - PCNT Arg1960Gln R1960Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34813667 203 10648 0.0190646 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.543 - - 0 - 1 N - - PCNT Gly2049Ser G2049S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 2 - 0 N - - PCNT Leu2097Pro L2097P not reviewed Insufficiently evaluated not reviewed unknown Array rs2839245 2170 10758 0.20171 21 0 23 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 7 Y 0 N - - PCNT His2125Pro H2125P not reviewed Insufficiently evaluated not reviewed unknown Array rs35978208 2163 10758 0.20106 21 0 23 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 0 N - - PCNT Met2188Arg M2188R not reviewed Insufficiently evaluated not reviewed unknown Array rs1044998 2166 10758 0.201339 21 0 23 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 0 N - - PCNT Trp2239Arg W2239R not reviewed Insufficiently evaluated not reviewed unknown Array rs35346764 2074 10718 0.193506 20 0 22 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 7 Y 0 N - - PCNT Pro2274Leu P2274L not reviewed Insufficiently evaluated not reviewed unknown Array rs2070425 2266 9970 0.227282 25 0 32 0 0 - - - - - - - - - - - - Y - - - 0.012 - - 7 Y 0 N - - PCNT Gln2361Arg Q2361R not reviewed Insufficiently evaluated not reviewed unknown Array rs7277175 2169 10758 0.201617 20 0 22 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 0 - 0 N - - PCNT Pro2377Leu P2377L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735814 490 10758 0.0455475 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.012 - - 7 Y 0 N - - PCNT Ala2549Thr A2549T not reviewed Insufficiently evaluated not reviewed unknown Array rs2839256 2154 10726 0.20082 21 0 23 0 0 - - - - - - - - - - - - Y - - - 0.009 - - 1 - 0 N - - PCNT Glu2550Lys E2550K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 - - 0 - 2 N - - PCNT Arg2625Gln R2625Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8131693 755 10758 0.0701803 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.065 - - 0 - 0 N - - PCNT Gln2659His Q2659H not reviewed Insufficiently evaluated not reviewed unknown Array rs2070426 5138 10684 0.480906 40 0 55 0 0 - - - - - - - - - - - - Y - - - 0.849 - - -1 - 0 N - - PCNT Arg2753His R2753H not reviewed Insufficiently evaluated not reviewed unknown Array rs743346 568 10758 0.0527979 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 1 - 1 N - - PCNT Gln2792Arg Q2792R not reviewed Insufficiently evaluated not reviewed unknown Array rs2073376 7460 10758 0.693437 50 0 78 0 0 - - - - - - - - - - - - Y - - - 0.006 - - 0 - 0 N - - PCNT Ala2891Thr A2891T not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PCNT Ala2903Thr A2903T not reviewed Insufficiently evaluated not reviewed unknown Array rs35147998 646 10758 0.0600483 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.085 - - 1 - 0 N - - PCNT Thr3005Met T3005M not reviewed Insufficiently evaluated not reviewed unknown Array rs60078675 222 10758 0.0206358 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.994 - - 2 - 2 N - - PCNT Ser3091Gly S3091G not reviewed Insufficiently evaluated not reviewed unknown Array rs4818842 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.312 - - 2 - 1 N - - PCNT Arg3236Gln R3236Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 - - 0 - 0 N - - PCNT Arg3245Ser R3245S not reviewed Insufficiently evaluated not reviewed unknown Array rs2073380 1809 10758 0.168154 19 0 24 0 0 - - - - - - - - - - - - Y - - - 0.657 - - 3 - 0 N - - PCNT Gly3266Asp G3266D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 4 Y 0 N - - PCNXL2 Ala2091Val A2091V not reviewed Insufficiently evaluated not reviewed unknown Array 280 10422 0.0268662 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCNXL2 Arg1984Gln R1984Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41309639 2409 10204 0.236084 24 0 26 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - PCNXL2 Ser1901Asn S1901N not reviewed Insufficiently evaluated not reviewed unknown Array rs56231757 2379 10190 0.233464 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCNXL2 Ser311Arg S311R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - PCNXL2 Arg135Stop R135X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PCNXL2 Asn121Ser N121S not reviewed Insufficiently evaluated not reviewed unknown Array 89 9886 0.00900263 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 2 N - - PCNXL2 Arg117Lys R117K not reviewed Insufficiently evaluated not reviewed unknown Array rs1033325 2829 9514 0.297351 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PCNXL3 Gln258Arg Q258R not reviewed Insufficiently evaluated not reviewed unknown Array rs1151489 9984 10024 0.99601 54 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCNXL3 Ser458Cys S458C not reviewed Insufficiently evaluated not reviewed unknown Array rs1193851 3260 9652 0.337754 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - PCNXL3 Pro1500Arg P1500R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 5 Y 2 N - - PCNXL3 Arg1564Gln R1564Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10154 0.000393933 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - PCNXL3 Arg1917Gln R1917Q not reviewed Insufficiently evaluated not reviewed unknown Array 265 9440 0.028072 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - PCOLCE2 Pro292Thr P292T not reviewed Insufficiently evaluated not reviewed unknown Array rs17554211 861 10758 0.0800335 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PCOLCE2 Val280Ala V280A not reviewed Insufficiently evaluated not reviewed unknown Array rs35692900 517 10758 0.0480573 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PCP4L1 Lys61Arg K61R not reviewed Insufficiently evaluated not reviewed unknown Array 144 9844 0.0146282 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -3 - 0 N - - PCSK1 Ser690Thr S690T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6235 2530 10758 0.235174 20 0 24 2 2 - - - - - - - - - - - - Y - - Y 0.061 Y - -2 - 3 N 10 - - PCSK1 Gln665Glu Q665E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6234 2659 10758 0.247165 21 0 25 1 1 - - - - - - - - - - - - Y - - Y - Y - -2 - 3 N 10 - - PCSK1 Asn221Asp N221D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6232 384 10758 0.0356944 7 0 7 3 3 - - - - - - - - - - - - Y Y - Y 0.006 Y - -1 - 3 N 9 - - PCSK1 Arg80Gln R80Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.13 Y - 0 - 2 - 2 - - PCSK4 Cys649Phe C649F not reviewed Insufficiently evaluated not reviewed unknown Array 58 9840 0.00589431 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - PCSK4 Ala456Val A456V not reviewed Insufficiently evaluated not reviewed unknown Array 384 10136 0.0378848 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - PCSK4 Thr267Met T267M not reviewed Insufficiently evaluated not reviewed unknown Array 419 10740 0.039013 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - PCSK4 Met129Ile M129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.599 - - -1 - 1 N - - PCSK4 Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array 279 10744 0.025968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCSK4 Pro21Ser P21S not reviewed Insufficiently evaluated not reviewed unknown Array rs73516829 651 10330 0.0630203 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 0 N - - PCSK6 Trp832Gly W832G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCSK6 Trp845Gly W845G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCSK6 Ser570Phe S570F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCSK6 Cys502Arg C502R not reviewed Insufficiently evaluated not reviewed unknown Array rs1058260 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCSK6 Glu465Lys E465K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCSK6 Gly455Ser G455S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCSK6 Val93Leu V93L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCSK6 Gly35Cys G35C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCSK6 Gly35Ser G35S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCSK7 Arg711Gln R711Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - PCSK7 Ala107Asp A107D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCSK7 Pro106Leu P106L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCSK9 Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array rs11583680 1027 10654 0.0963957 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 7 - - PCSK9 Arg93Cys R93C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.973 Y - 8 Y 4 - 7 - - PCSK9 Tyr142Stop Y142X protective Moderate clinical importance, protective dominant Array rs67608943 14 10758 0.00130136 2 0 2 2 2 3 Y 1 Y 4 Y - - 4 Y 4 Y Y Y - - - Y - 10 Y 5 N 10 1 2 This rare protective variant is found in African Americans and is associated with a greatly decreased risk of coronary heart disease (~80-90% lower risk than average) and with a 30-40% reduction in LDL levels. PCSK9 Arg237Trp R237W protective Low clinical importance, Uncertain protective dominant Array 11 10756 0.00102268 1 0 1 5 5 2 Y - - 0 Y - - 2 Y 0 Y Y - - - 0.994 Y - 7 Y 4 Y 0 0 Reported to cause hypocholesterolemia (a protective effect), but observations had no statistical significance and contradicting evidence exists. PCSK9 Ala443Thr A443T not reviewed Insufficiently evaluated not reviewed unknown Array rs28362263 303 10758 0.0281651 4 0 6 2 2 0 Y - - 0 Y ! Y - - - - Y - - - - Y - 1 - Familial Hypercholesterolemia, Autosomal Dominant, 3 1 129 0 340 INF 3 - 10 - - This variant was found in one female with hypercholesterolemia, but her daughter was symptomatic without the variant present. Later studies show that this variant correlates with lower LDL-C levels in African Americans. PCSK9 Val474Ile V474I not reviewed Insufficiently evaluated not reviewed unknown Array rs562556 8793 10758 0.817345 47 0 81 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 3 - - PCSK9 Gln619Pro Q619P not reviewed Insufficiently evaluated not reviewed unknown Array 42 10718 0.00391864 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 4 Y 2 - 3 - - PCSK9 Gly670Glu G670E benign Low clinical importance, Uncertain benign unknown Array rs505151 9556 10758 0.888269 36 0 69 1 1 3 - - - 5 Y - - - - - - Y - - - - Y - 6 Y 2 - 1 0 0 This variant is likely benign. PCTK1 Val282Gly V282G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCTK1 Val288Gly V288G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCTK1 Gln471Leu Q471L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCTK1 Gln477Leu Q477L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCTK3 Gly67Arg G67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCTP Glu10Ala E10A not reviewed Insufficiently evaluated not reviewed unknown Array rs12941739 737 8992 0.0819617 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.803 - - 3 - 0 N - - PCTP Cys63Tyr C63Y not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PCYOX1 Ser149Phe S149F not reviewed Insufficiently evaluated not reviewed unknown Array rs2706762 1183 10758 0.109965 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PCYOX1 Ile270Val I270V not reviewed Insufficiently evaluated not reviewed unknown Array rs72904344 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - PCYOX1L Ala5Pro A5P not reviewed Insufficiently evaluated not reviewed unknown Array rs2291814 416 2178 0.191001 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PCYOX1L Ala278Val A278V not reviewed Insufficiently evaluated not reviewed unknown Array rs73795989 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - PCYOX1L Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array rs35552800 439 10758 0.0408068 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCYOX1L Glu390Asp E390D not reviewed Insufficiently evaluated not reviewed unknown Array rs4705336 1474 10758 0.137014 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.148 - - -2 - 0 N - - PDCD1 Ala215Val A215V not reviewed Insufficiently evaluated not reviewed unknown Array rs2227982 132 10758 0.0122699 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PDCD11 Ala623Ser A623S not reviewed Insufficiently evaluated not reviewed unknown Array rs11598673 576 10758 0.0535415 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PDCD11 Leu1216Phe L1216F not reviewed Insufficiently evaluated not reviewed unknown Array rs2986014 4434 10758 0.412158 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDCD11 Val1292Ile V1292I not reviewed Insufficiently evaluated not reviewed unknown Array rs73330626 151 10758 0.0140361 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - PDCD11 Asp1871Ala D1871A not reviewed Insufficiently evaluated not reviewed unknown Array rs7831 3699 10758 0.343837 25 0 32 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - PDCD1LG2 Phe229Ser F229S not reviewed Insufficiently evaluated not reviewed unknown Array rs7854303 10745 10758 0.998792 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PDCD1LG2 Ile241Thr I241T not reviewed Insufficiently evaluated not reviewed unknown Array rs7854413 2733 10758 0.254043 30 0 38 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 1 N - - PDCD2 Pro116Thr P116T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PDCD2 Pro69Arg P69R not reviewed Insufficiently evaluated not reviewed unknown Array 140 9442 0.0148274 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - PDCD4 Ile25Val I25V not reviewed Insufficiently evaluated not reviewed unknown Array rs7081726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDCD4 Ile36Val I36V not reviewed Insufficiently evaluated not reviewed unknown Array rs7081726 9871 10758 0.91755 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PDCD5 Glu16Lys E16K not reviewed Insufficiently evaluated not reviewed unknown Array 48 10420 0.00460652 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.232 - - 0 - 1 N - - PDCD6IP Ala309Thr A309T not reviewed Insufficiently evaluated not reviewed unknown Array rs3792594 35 126 0.277778 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDCD6IP Val378Ile V378I not reviewed Insufficiently evaluated not reviewed unknown Array rs3203777 44 126 0.349206 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.052 - - -4 - 0 N - - PDCD6IP Gly429Ser G429S not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - PDCD6IP Asn550Ser N550S not reviewed Insufficiently evaluated not reviewed unknown Array rs9813017 16 128 0.125 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDCD6IP Ser730Leu S730L not reviewed Insufficiently evaluated not reviewed unknown Array rs1127732 18 124 0.145161 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PDCD7 Pro87Leu P87L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDCL Ser97Pro S97P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - PDE10A Arg486Gln R486Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PDE10A Arg496Gln R496Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Met434Val M434V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Met520Val M520V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Met628Val M628V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Met878Val M878V not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - PDE11A Arg423Gly R423G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE11A Arg509Gly R509G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE11A Arg617Gly R617G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE11A Arg867Gly R867G not reviewed Insufficiently evaluated not reviewed unknown Array rs61306957 295 10758 0.0274215 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 10 - - PDE11A Arg360His R360H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE11A Arg446His R446H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE11A Arg554His R554H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE11A Arg804His R804H not reviewed Insufficiently evaluated not reviewed unknown Array 168 10748 0.0156308 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 10 - - PDE11A Leu194Trp L194W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE11A Leu444Trp L444W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 5 Y 2 N - - PDE11A Leu86Trp L86W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE11A Arg202Cys R202C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.048 - - 8 Y 0 N - - PDE11A Arg184Gln R184Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6433711 10686 10758 0.993307 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDE11A Thr51Ile T51I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE12 Arg23Trp R23W not reviewed Insufficiently evaluated not reviewed unknown Array rs2241988 3787 10720 0.353265 30 0 36 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 1 N - - PDE12 Gly188Glu G188E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 6 Y 1 N - - PDE1A Ser475Pro S475P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE2A Thr215Ile T215I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE2A Thr217Ile T217I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE2A Thr224Ile T224I not reviewed Insufficiently evaluated not reviewed unknown Array rs341047 869 10690 0.0812909 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.357 - - 3 - 0 N - - PDE3A Asp12Asn D12N not reviewed Insufficiently evaluated not reviewed unknown Array rs12305038 2866 8914 0.321517 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.065 - - -1 - 0 N - - PDE4A Met158Val M158V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4A Met336Val M336V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PDE4A Met371Val M371V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4A Met397Val M397V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PDE4A Ala497Glu A497E not reviewed Insufficiently evaluated not reviewed unknown Array rs1051738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4A Ala675Glu A675E not reviewed Insufficiently evaluated not reviewed unknown Array rs1051738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4A Ala710Glu A710E not reviewed Insufficiently evaluated not reviewed unknown Array rs1051738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4A Ala736Glu A736E not reviewed Insufficiently evaluated not reviewed unknown Array rs1051738 2316 10758 0.215282 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - PDE4B Leu262Phe L262F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4B Leu419Phe L419F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4B Leu434Phe L434F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 0 - 2 N - - PDE4C Arg238Gln R238Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Arg312Gln R312Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Arg344Gln R344Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229228 3189 10758 0.296431 19 0 18 0 0 - - - - - - - - - - - - - - - - 0.428 - - 0 - 0 N - - PDE4C Arg238Trp R238W not reviewed Insufficiently evaluated not reviewed unknown Array rs11879710 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDE4C Arg312Trp R312W not reviewed Insufficiently evaluated not reviewed unknown Array rs11879710 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDE4C Arg344Trp R344W not reviewed Insufficiently evaluated not reviewed unknown Array rs11879710 250 10758 0.0232385 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PDE4DIP Thr2297Ala T2297A not reviewed Insufficiently evaluated not reviewed unknown Array 568 10758 0.0527979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDE4DIP Arg2291Gln R2291Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3851873 1 2 0.5 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PDE4DIP Asp1910Glu D1910E not reviewed Insufficiently evaluated not reviewed unknown Array rs1613780 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PDE4DIP Arg1867Cys R1867C not reviewed Insufficiently evaluated not reviewed unknown Array rs1620560 63 126 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - PDE4DIP Ala1757Thr A1757T not reviewed Insufficiently evaluated not reviewed unknown Array rs1628310 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PDE4DIP Ala1742Ser A1742S not reviewed Insufficiently evaluated not reviewed unknown Array rs1698605 59 118 0.5 48 0 48 0 0 - - - - - - - - - - - - - - - - 0.728 - - -1 - 0 N - - PDE4DIP Val1736Glu V1736E not reviewed Insufficiently evaluated not reviewed unknown Array rs1778159 59 118 0.5 47 0 47 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - PDE4DIP Leu1727Pro L1727P not reviewed Insufficiently evaluated not reviewed unknown Array rs1778158 49 102 0.480392 39 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PDE4DIP His1598Arg H1598R not reviewed Insufficiently evaluated not reviewed unknown Array rs1778155 3092 10750 0.287628 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - PDE4DIP Arg1504Gln R1504Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2762875 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4DIP Lys1454Glu K1454E not reviewed Insufficiently evaluated not reviewed unknown Array rs1778120 1339 10758 0.124466 23 0 23 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 1 N - - PDE4DIP Trp1396Arg W1396R not reviewed Insufficiently evaluated not reviewed unknown Array rs2798901 6553 10758 0.609128 55 0 69 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PDE4DIP Val1371Ile V1371I not reviewed Insufficiently evaluated not reviewed unknown Array 590 10758 0.0548429 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PDE4DIP Lys1359Glu K1359E not reviewed Insufficiently evaluated not reviewed unknown Array rs1747958 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - PDE4DIP Lys1266Glu K1266E not reviewed Insufficiently evaluated not reviewed unknown Array rs12568796 2138 10752 0.198847 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 1 N - - PDE4DIP Ser1205Pro S1205P not reviewed Insufficiently evaluated not reviewed unknown Array rs2762877 164 10750 0.0152558 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PDE4DIP Ala1066Thr A1066T not reviewed Insufficiently evaluated not reviewed unknown Array rs1698647 64 128 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - PDE4DIP Phe1013Ile F1013I not reviewed Insufficiently evaluated not reviewed unknown Array rs1698624 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PDE4DIP Met783Ile M783I not reviewed Insufficiently evaluated not reviewed unknown Array rs34169189 1191 10744 0.110853 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 0 N - - PDE4DIP Met946Ile M946I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE4DIP Cys708Arg C708R not reviewed Insufficiently evaluated not reviewed unknown Array rs1628172 8872 10758 0.824689 56 0 100 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - PDE4DIP Cys871Arg C871R not reviewed Insufficiently evaluated not reviewed unknown Array rs1628172 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDE4DIP Arg681His R681H not reviewed Insufficiently evaluated not reviewed unknown Array rs1629011 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - PDE4DIP Arg844His R844H not reviewed Insufficiently evaluated not reviewed unknown Array rs1629011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE4DIP Arg622Stop R622X not reviewed Insufficiently evaluated not reviewed unknown Array rs1778111 63 126 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PDE4DIP Arg785Stop R785X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDE4DIP Trp560Stop W560X not reviewed Insufficiently evaluated not reviewed unknown Array rs1698683 3516 10750 0.32707 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PDE4DIP Trp723Stop W723X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDE4DIP Ser536Thr S536T not reviewed Insufficiently evaluated not reviewed unknown Array rs1747930 64 128 0.5 56 0 57 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 1 N - - PDE4DIP Ser699Thr S699T not reviewed Insufficiently evaluated not reviewed unknown Array rs1747930 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDE4DIP His482Arg H482R not reviewed Insufficiently evaluated not reviewed unknown Array rs1698681 63 126 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDE4DIP His645Arg H645R not reviewed Insufficiently evaluated not reviewed unknown Array rs1698681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE4DIP Glu410Val E410V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061308 64 128 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - PDE4DIP Glu573Val E573V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE4DIP Arg295His R295H not reviewed Insufficiently evaluated not reviewed unknown Array rs2455994 3631 10754 0.337642 29 0 29 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PDE4DIP Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array rs2455994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE4DIP Arg295Cys R295C not reviewed Insufficiently evaluated not reviewed unknown Array 235 10754 0.0218523 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 1 - 1 - - PDE4DIP Arg458Cys R458C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDE4DIP Ser275Leu S275L not reviewed Insufficiently evaluated not reviewed unknown Array rs1359300 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - 0.419 - - 6 Y 0 N - - PDE4DIP Ser438Leu S438L not reviewed Insufficiently evaluated not reviewed unknown Array rs1359300 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE4DIP Lys257Glu K257E not reviewed Insufficiently evaluated not reviewed unknown Array rs2147326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4DIP Gln250Arg Q250R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PDE4DIP Thr208Ala T208A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE4DIP Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PDE4DIP Ile108Leu I108L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - PDE4DIP Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE4DIP Leu83Gln L83Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE4DIP Arg43Pro R43P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE4DIP Asn28Ser N28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4DIP Arg187Lys R187K not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PDE4DIP Arg171Lys R171K not reviewed Insufficiently evaluated not reviewed unknown Array 1537 10758 0.14287 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 1 N - - PDE4DIP Arg308Lys R308K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PDE4DIP Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - PDE4DIP Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE4DIP Ile186Thr I186T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4DIP Ile49Thr I49T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.344 - - 3 - 1 N - - PDE4DIP Arg162Leu R162L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE4DIP Arg25Leu R25L not reviewed Insufficiently evaluated not reviewed unknown Array rs1664022 64 128 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - PDE4DIP Ser158Ile S158I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE4DIP Ser21Ile S21I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - PDE4DIP Leu142Ile L142I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDE4DIP Asp84Gly D84G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - PDE4DIP Trp60Stop W60X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDE4DIP Ser59Thr S59T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDE4DIP Pro30Ser P30S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4DIP Pro30Thr P30T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - PDE5A Glu119Val E119V not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE5A Glu67Val E67V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE5A Glu77Val E77V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE5A Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE5A Ala51Val A51V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE5A Ala93Val A93V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733526 8358 10758 0.77691 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PDE6A Thr717Pro T717P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PDE6A Phe450Ser F450S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - PDE6A Asn216Ser N216S not reviewed Insufficiently evaluated not reviewed unknown Array rs10057110 462 10758 0.0429448 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 5 - - PDE6B Arg9Gln R9Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PDE6B Asp49Tyr D49Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.032 Y - 7 Y 1 N - - PDE6B Tyr219His Y219H benign Insufficiently evaluated benign recessive Array 59 10758 0.00548429 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.007 Y - -1 - 2 - 3 - - This variant was seen in a screen of 92 individuals with retinitis pigmentosa. It did not cosegregate with disease. PDE6B Val320Ile V320I not reviewed Insufficiently evaluated not reviewed unknown Array rs10902758 10746 10758 0.998885 56 0 112 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - PDE6B Val41Ile V41I not reviewed Insufficiently evaluated not reviewed unknown Array rs10902758 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - PDE6B Gly128Arg G128R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - PDE6B Gly407Arg G407R not reviewed Insufficiently evaluated not reviewed unknown Array rs60635284 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 6 Y 3 N - - PDE6C Asp157Glu D157E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10722 0.00158552 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.319 - - -2 - 1 N - - PDE6C Ser270Thr S270T not reviewed Insufficiently evaluated not reviewed unknown Array rs701865 4203 10758 0.390686 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PDE6C Glu699Ala E699A not reviewed Insufficiently evaluated not reviewed unknown Array rs12261131 258 10758 0.0239822 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - PDE7A Gly50Glu G50E not reviewed Insufficiently evaluated not reviewed unknown Array rs11557049 507 10758 0.0471277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 8 - - PDE7A Gly76Glu G76E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 6 Y 1 - 8 - - PDE7B Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PDE7B Ser449Arg S449R not reviewed Insufficiently evaluated not reviewed unknown Array 139 10230 0.0135875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - PDE8A Leu55Val L55V not reviewed Insufficiently evaluated not reviewed unknown Array rs11540803 245 5094 0.0480958 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - PDE8A Val161Leu V161L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - 0 - 1 N - - PDE8A Lys249Glu K249E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE8A Lys295Glu K295E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - PDE8A Asn355Ser N355S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE8A Asn401Ser N401S not reviewed Insufficiently evaluated not reviewed unknown Array rs62019510 280 10758 0.0260271 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - PDE9A Met343Arg M343R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met353Arg M353R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met400Arg M400R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met426Arg M426R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met432Arg M432R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 2 N - - PDE9A Met433Arg M433R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met458Arg M458R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met459Arg M459R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met474Arg M474R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met493Arg M493R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met500Arg M500R not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met507Arg M507R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met519Arg M519R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE9A Met534Arg M534R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - PDE9A Met560Arg M560R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 4 Y 0 N - - PDF Trp11Arg W11R not reviewed Insufficiently evaluated not reviewed unknown Array rs8057004 900 4356 0.206612 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PDGFD Ile184Val I184V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDGFD Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array rs35045740 477 10758 0.0443391 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDGFRA Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - PDGFRA Arg346Met R346M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.09 Y - 4 Y 1 N - - PDGFRA Ser478Pro S478P not reviewed Insufficiently evaluated not reviewed unknown Array rs35597368 1557 10758 0.14473 20 0 23 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 7 - - PDGFRA Arg817His R817H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - PDGFRB Arg991His R991H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - PDGFRB Thr464Met T464M not reviewed Insufficiently evaluated not reviewed unknown Array 326 10758 0.030303 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 2 - 2 - - PDGFRB Ile29Phe I29F not reviewed Insufficiently evaluated not reviewed unknown Array rs17110944 777 10758 0.0722253 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PDGFRL His13Asn H13N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.593 - - 0 - 1 N - - PDGFRL Met69Thr M69T not reviewed Insufficiently evaluated not reviewed unknown Array rs35704589 127 10758 0.0118052 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PDGFRL Val193Ala V193A not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.769 - - 2 - 1 N - - PDHA1 Met282Leu M282L benign Insufficiently evaluated benign unknown Array rs2229137 11 8761 0.00125556 4 0 4 1 1 - - - - - - - - - - - - Y Y - - 0.535 Y - -3 - 4 N 2 - - Claimed to cause X-linked pyruvate dehydrogenase deficiency (causing early onset severe encephalopathy and lactic acidosis) -- unusually in a female carrier who was hypothesized to be symptomatic due to X inactivation of the other, functional copy of the gene. However, this variant is very common in east asian ethnicities, strongly contradicting a pathogenic hypothesis. PDHA2 Arg376Gly R376G not reviewed Insufficiently evaluated not reviewed unknown Array rs17024795 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 6 - - PDHX Gly5Ser G5S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDHX Glu28Gly E28G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDHX Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array rs1049306 2247 10758 0.208868 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PDHX Arg24Gly R24G not reviewed Insufficiently evaluated not reviewed unknown Array rs11539201 251 10758 0.0233315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 6 Y 1 - 3 - - PDHX Thr101Ala T101A not reviewed Insufficiently evaluated not reviewed unknown Array rs11539202 2618 10758 0.243354 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.381 - - 1 - 0 N - - PDHX Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDIA2 Thr119Arg T119R not reviewed Insufficiently evaluated not reviewed unknown Array rs45614840 964 10568 0.0912188 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 1 N - - PDIA2 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array rs419949 1831 10224 0.179088 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PDIA2 Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array rs2685127 1261 10178 0.123895 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 0 N - - PDIA2 Ala316Val A316V not reviewed Insufficiently evaluated not reviewed unknown Array rs45459806 136 10602 0.0128278 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - PDIA2 Pro382Ala P382A not reviewed Insufficiently evaluated not reviewed unknown Array rs45529833 362 9704 0.0373042 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - PDIA2 Arg388Gln R388Q not reviewed Insufficiently evaluated not reviewed unknown Array rs400037 2255 9776 0.230667 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PDIA2 Gly460Ser G460S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10440 0.00249042 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PDIA2 Asp483Val D483V not reviewed Insufficiently evaluated not reviewed unknown Array rs45585539 34 9610 0.00353798 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - PDIA2 Pro502Ser P502S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048786 1243 9452 0.131507 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - PDIA3 Arg119Lys R119K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - PDIA4 Tyr604Stop Y604X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDIA6 Lys214Arg K214R not reviewed Insufficiently evaluated not reviewed unknown Array rs4807 2455 10758 0.228202 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.65 - - -3 - 0 N - - PDILT Gly529Glu G529E not reviewed Insufficiently evaluated not reviewed unknown Array rs9652588 5030 10758 0.467559 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PDILT Arg527Lys R527K not reviewed Insufficiently evaluated not reviewed unknown Array rs9652589 5086 10758 0.472764 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PDILT Leu475Arg L475R not reviewed Insufficiently evaluated not reviewed unknown Array rs4500734 256 10758 0.0237962 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - PDILT Pro415Ser P415S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PDILT Ala26Thr A26T not reviewed Insufficiently evaluated not reviewed unknown Array rs9926580 3581 10758 0.332869 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDK1 Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.567 - - 7 Y 1 N - - PDK4 Asp109Gly D109G not reviewed Insufficiently evaluated not reviewed unknown Array rs34898343 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.928 - - 4 Y 3 - 2 - - PDLIM1 Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array rs2296961 2818 10758 0.261945 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDLIM2 Thr266Pro T266P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDLIM2 Tyr305Ser Y305S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - PDLIM3 Thr197Ile T197I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDLIM3 Thr245Ile T245I not reviewed Insufficiently evaluated not reviewed unknown Array rs62347360 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - PDLIM4 Val184Ile V184I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10748 0.00325642 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 2 - - PDLIM4 Gly259Cys G259C not reviewed Insufficiently evaluated not reviewed unknown Array rs4877 949 10640 0.0891917 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PDLIM4 Ala225Val A225V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDLIM5 Ser136Phe S136F not reviewed Insufficiently evaluated not reviewed unknown Array rs2452600 2682 10758 0.249303 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PDLIM5 Val206Ile V206I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDLIM5 Val226Ile V226I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDLIM5 Ala236Thr A236T not reviewed Insufficiently evaluated not reviewed unknown Array rs966845 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDLIM5 Ala345Thr A345T not reviewed Insufficiently evaluated not reviewed unknown Array rs966845 10699 10758 0.994516 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDLIM5 Thr272Ala T272A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDLIM5 Thr381Ala T381A not reviewed Insufficiently evaluated not reviewed unknown Array rs7690296 3645 10758 0.338818 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDLIM5 Ser383Asn S383N not reviewed Insufficiently evaluated not reviewed unknown Array rs13107595 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDLIM5 Ser492Asn S492N not reviewed Insufficiently evaluated not reviewed unknown Array rs13107595 10581 10758 0.983547 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDLIM7 Ala292Thr A292T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDLIM7 Ala326Thr A326T not reviewed Insufficiently evaluated not reviewed unknown Array rs2306764 720 10754 0.0669518 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDLIM7 Ala40Val A40V not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - PDP2 Val423Met V423M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 3 - 1 - - PDPN Ala105Gly A105G not reviewed Insufficiently evaluated not reviewed unknown Array rs2486188 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDPN Ala223Gly A223G not reviewed Insufficiently evaluated not reviewed unknown Array rs2486188 10416 10758 0.96821 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDPR Tyr110His Y110H not reviewed Insufficiently evaluated not reviewed unknown Array rs2549532 2353 9754 0.241234 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PDPR Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array rs10852462 3920 9834 0.398617 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - PDPR Val375Leu V375L not reviewed Insufficiently evaluated not reviewed unknown Array rs59034887 1372 10008 0.13709 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - PDPR Tyr640Phe Y640F not reviewed Insufficiently evaluated not reviewed unknown Array 862 9684 0.0890128 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - -4 - 0 N - - PDPR Asn662Lys N662K not reviewed Insufficiently evaluated not reviewed unknown Array rs62050978 544 10442 0.0520973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - PDS5B Phe1120Leu F1120L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - PDSS1 Phe136Cys F136C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.911 Y - 4 Y 3 N - - PDSS2 Arg4Pro R4P not reviewed Insufficiently evaluated not reviewed unknown Array rs3734676 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.62 Y - 5 Y 2 N - - PDSS2 Phe3Leu F3L not reviewed Insufficiently evaluated not reviewed unknown Array rs3734675 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PDXDC1 Ile82Met I82M not reviewed Insufficiently evaluated not reviewed unknown Array rs11549900 2131 10758 0.198085 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PDXDC1 Pro301Leu P301L not reviewed Insufficiently evaluated not reviewed unknown Array rs4985162 1806 10752 0.167969 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PDXDC1 Leu428Val L428V not reviewed Insufficiently evaluated not reviewed unknown Array 490 10758 0.0455475 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - PDYN Asn41Asp N41D not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.837 - - -1 - 1 N - - PDZD2 Arg215Gln R215Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - PDZD2 Arg511Cys R511C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PDZD2 Glu1178Gly E1178G not reviewed Insufficiently evaluated not reviewed unknown Array rs57158698 453 10754 0.0421239 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - PDZD2 Ser1208Asn S1208N not reviewed Insufficiently evaluated not reviewed unknown Array rs61745726 1067 10758 0.099182 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - PDZD2 Gln1258Lys Q1258K not reviewed Insufficiently evaluated not reviewed unknown Array rs3101878 304 10758 0.028258 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.421 - - -2 - 1 N - - PDZD2 Thr1274Ala T1274A not reviewed Insufficiently evaluated not reviewed unknown Array rs157496 2860 10758 0.265849 31 0 33 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PDZD2 Thr1334Arg T1334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 0 N - - PDZD2 Asp1343Glu D1343E not reviewed Insufficiently evaluated not reviewed unknown Array rs12520467 8 10756 0.00074377 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -2 - 3 - 3 - - PDZD2 Ala1406Val A1406V not reviewed Insufficiently evaluated not reviewed unknown Array rs73061717 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - PDZD2 Thr1425Met T1425M not reviewed Insufficiently evaluated not reviewed unknown Array rs36097367 443 10758 0.0411787 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 3 - 3 - - PDZD2 Ala1649Val A1649V not reviewed Insufficiently evaluated not reviewed unknown Array rs3101873 303 10758 0.0281651 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - PDZD2 Arg2247Gln R2247Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10066063 845 10758 0.0785462 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - PDZD2 Ser2592Tyr S2592Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.743 - - 5 Y 1 N - - PDZD3 Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1815811 6029 10758 0.56042 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDZD8 Arg897Gln R897Q not reviewed Insufficiently evaluated not reviewed unknown Array rs363294 426 10758 0.0395984 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - PDZRN3 Ala783Val A783V not reviewed Insufficiently evaluated not reviewed unknown Array rs3205537 2743 10758 0.254973 22 0 28 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - PDZRN3 His722Gln H722Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60164307 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PDZRN3 Gly239Arg G239R not reviewed Insufficiently evaluated not reviewed unknown Array 3 6968 0.000430539 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - PDZRN4 Arg92His R92H not reviewed Insufficiently evaluated not reviewed unknown Array rs35577124 723 10758 0.0672058 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDZRN4 Gly171Ser G171S not reviewed Insufficiently evaluated not reviewed unknown Array rs285584 2033 10758 0.188976 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PEAR1 Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - PEAR1 Ser234Pro S234P not reviewed Insufficiently evaluated not reviewed unknown Array rs1952294 10510 10758 0.976947 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PEAR1 Ser381Phe S381F not reviewed Insufficiently evaluated not reviewed unknown Array 217 9770 0.0222108 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - PEAR1 Asn848Lys N848K not reviewed Insufficiently evaluated not reviewed unknown Array rs822442 1638 10758 0.152259 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PEAR1 Arg885His R885H not reviewed Insufficiently evaluated not reviewed unknown Array rs11264581 1549 10758 0.143986 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PEAR1 Asn903Asp N903D not reviewed Insufficiently evaluated not reviewed unknown Array rs12137505 3825 10758 0.355549 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PEAR1 Asn903Ser N903S not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PEBP1 Asn95Ser N95S not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - PEBP4 Gln221Pro Q221P not reviewed Insufficiently evaluated not reviewed unknown Array rs61732772 557 9934 0.0560701 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 0 N - - PEBP4 Glu211Gly E211G not reviewed Insufficiently evaluated not reviewed unknown Array rs1047406 2960 9980 0.296593 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - PEBP4 Lys125Glu K125E not reviewed Insufficiently evaluated not reviewed unknown Array rs1129474 5533 9978 0.55452 44 0 61 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - PECAM1 Arg579Gly R579G not reviewed Insufficiently evaluated not reviewed unknown Array rs1131012 43 128 0.335938 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PECAM1 Ser472Asn S472N not reviewed Insufficiently evaluated not reviewed unknown Array rs12953 43 128 0.335938 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PECAM1 Leu125Val L125V pharmacogenetic Low clinical importance, Likely pharmacogenetic other Array rs668 73 128 0.570312 45 0 63 1 1 1 Y 0 - 4 Y 0 - 3 Y 4 Y - Y - - - - - 0 - 2 N 0 1 Mismatched genotypes in this variant between donor and recipient is associated with causing graft vs. host disease in bone marrow transplants. PECI Val218Met V218M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PECI Val355Met V355M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PECI Ala177Val A177V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PECI Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs7166 3204 10758 0.297825 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PECI Thr107Ala T107A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PECI Met17Ile M17I not reviewed Insufficiently evaluated not reviewed unknown Array rs3177253 2221 10758 0.206451 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PECR Phe297Leu F297L not reviewed Insufficiently evaluated not reviewed unknown Array rs9288513 1566 10758 0.145566 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PECR Ser266Gly S266G not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 2 - 1 N - - PECR Glu149Lys E149K not reviewed Insufficiently evaluated not reviewed unknown Array rs1429148 1227 10758 0.114055 15 0 22 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - PEG10 Ser605Tyr S605Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PEG10 Thr705Ile T705I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PEG3 Arg1450His R1450H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 Arg1452His R1452H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 Arg1576His R1576H not reviewed Insufficiently evaluated not reviewed unknown Array rs34051133 1072 10758 0.0996468 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 1 N - - PEG3 Ala1330Val A1330V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - PEG3 Ala1332Val A1332V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - PEG3 Ala1456Val A1456V not reviewed Insufficiently evaluated not reviewed unknown Array rs34831553 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - PEG3 Asn821Ser N821S not reviewed Insufficiently evaluated not reviewed unknown Array rs35851866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PEG3 Asn823Ser N823S not reviewed Insufficiently evaluated not reviewed unknown Array rs35851866 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - PEG3 Asn947Ser N947S not reviewed Insufficiently evaluated not reviewed unknown Array rs35851866 267 10758 0.0248187 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.665 - - 0 - 1 N - - PEG3 Pro637Leu P637L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PEG3 Pro639Leu P639L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PEG3 Pro763Leu P763L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - PEG3 Glu498Gly E498G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - PEG3 Glu500Gly E500G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - PEG3 Glu624Gly E624G not reviewed Insufficiently evaluated not reviewed unknown Array rs36016896 176 10758 0.0163599 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 3 - 3 - - PEG3 His470Arg H470R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PEG3 His472Arg H472R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 His596Arg H596R not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PEG3 Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 3 - 1 - - PEG3 Arg287Gln R287Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - PEG3 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array rs2191432 8 10758 0.000743632 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEG3 Ile97Val I97V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.871 - - -4 - 2 N - - PELI3 Val263Met V263M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PELI3 Val287Met V287M not reviewed Insufficiently evaluated not reviewed unknown Array rs34989499 30 10710 0.00280112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 1 - 2 - - PELO Leu221Met L221M not reviewed Insufficiently evaluated not reviewed unknown Array rs1499280 9756 10758 0.90686 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PELO Lys239Arg K239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - -3 - 0 N - - PELP1 Thr1126Ser T1126S not reviewed Insufficiently evaluated not reviewed unknown Array rs9436 1789 10524 0.169992 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PELP1 Glu949Asp E949D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PEMT Val175Met V175M not reviewed Insufficiently evaluated not reviewed unknown Array rs7946 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - PEMT Val212Met V212M not reviewed Insufficiently evaluated not reviewed unknown Array rs7946 6530 10710 0.609711 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PEMT Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array rs897453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PEMT Val95Ile V95I not reviewed Insufficiently evaluated not reviewed unknown Array rs897453 3643 10758 0.338632 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PEMT Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 0 N - - PEMT Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PENK Phe45Ser F45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PEPD Leu435Phe L435F not reviewed Insufficiently evaluated not reviewed unknown Array rs17570 2822 9848 0.286556 24 0 32 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 - 1 - - PEPD Arg388His R388H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230062 3 9804 0.000305997 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 1 - 2 N - - PEPD Glu170Val E170V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748998 130 10140 0.0128205 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - PEPD Arg148Cys R148C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734505 101 10370 0.00973963 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 - - 8 Y 0 N - - PER1 Val1027Ile V1027I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10730 0.00242311 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - PER1 Ala962Pro A962P not reviewed Insufficiently evaluated not reviewed unknown Array rs2585405 9200 10752 0.855655 13 0 21 0 0 - - - - - - - - - - - - - - - - 0.212 - - 2 - 0 N - - PER1 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 2 - 0 N - - PER2 Gly1244Glu G1244E not reviewed Insufficiently evaluated not reviewed unknown Array rs934945 1502 10758 0.139617 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PER2 Ser1236Leu S1236L not reviewed Insufficiently evaluated not reviewed unknown Array rs73088906 14 10758 0.00130136 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PER2 Val1205Met V1205M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - PER2 Phe876Leu F876L not reviewed Insufficiently evaluated not reviewed unknown Array 90 10754 0.00836898 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - PER2 Ala828Thr A828T not reviewed Insufficiently evaluated not reviewed unknown Array rs55704277 372 10748 0.0346111 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PER3 Ala18Ser A18S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - PER3 Val639Gly V639G not reviewed Insufficiently evaluated not reviewed unknown Array rs10462020 1714 10758 0.159323 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PER3 Arg741Trp R741W not reviewed Insufficiently evaluated not reviewed unknown Array rs35687686 60 10642 0.00563804 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - PER3 Leu827Pro L827P not reviewed Insufficiently evaluated not reviewed unknown Array rs228696 10340 10758 0.961145 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PER3 Pro856Ala P856A not reviewed Insufficiently evaluated not reviewed unknown Array rs228697 848 10758 0.0788251 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PER3 Ser919Leu S919L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PER3 Ser1012Leu S1012L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - PER3 Met1028Thr M1028T not reviewed Insufficiently evaluated not reviewed unknown Array rs2640909 2594 10758 0.241123 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PER3 His1149Arg H1149R not reviewed Insufficiently evaluated not reviewed unknown Array rs10462021 1716 10758 0.159509 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PERP Pro143Arg P143R not reviewed Insufficiently evaluated not reviewed unknown Array rs648802 5893 10758 0.547778 44 0 61 0 0 - - - - - - - - - - - - - - - - 0.839 - - 5 Y 0 N - - PERP Gly42Val G42V not reviewed Insufficiently evaluated not reviewed unknown Array 90 10682 0.00842539 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PERP Ala24Ser A24S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10640 0.00441729 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 1 - 1 - - PES1 Thr264Ser T264S not reviewed Insufficiently evaluated not reviewed unknown Array rs42942 625 10758 0.0580963 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PET112L Tyr294Cys Y294C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.907 - - 6 Y 2 N - - PET112L Val120Gly V120G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PET112L Ala30Asp A30D not reviewed Insufficiently evaluated not reviewed unknown Array rs11556167 1665 10758 0.154769 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - PET112L Arg7His R7H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - PEX1 Ile696Met I696M pathogenic High clinical importance, Uncertain pathogenic recessive Array rs35996821 291 10756 0.0270547 2 0 2 1 1 ! Y - - 0 Y - - 5 Y 1 - Y - - - - Y Y -1 - 4 - 2 2 0 Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner. PEX1 Ala381Asp A381D not reviewed Insufficiently evaluated not reviewed unknown Array rs73404416 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y 5 Y 2 N - - PEX10 Gly140Arg G140R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10724 0.000279746 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PEX11G Leu216Phe L216F not reviewed Insufficiently evaluated not reviewed unknown Array rs11668511 235 10596 0.0221782 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 3 - 1 - - PEX11G Trp205Stop W205X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PEX11G Cys91Trp C91W not reviewed Insufficiently evaluated not reviewed unknown Array rs2303146 4542 10710 0.42409 40 0 49 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PEX12 Leu245Ile L245I not reviewed Insufficiently evaluated not reviewed unknown Array rs12941376 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PEX14 Ser70Ala S70A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y -1 - 4 N - - PEX14 Val159Met V159M not reviewed Insufficiently evaluated not reviewed unknown Array rs74052157 279 10758 0.0259342 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.366 Y Y 0 - 3 N - - PEX16 His345Pro H345P not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PEX16 Val116Ile V116I not reviewed Insufficiently evaluated not reviewed unknown Array rs10742772 128 128 1 56 0 112 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - PEX16 Val103Met V103M not reviewed Insufficiently evaluated not reviewed unknown Array rs11553094 219 10758 0.0203569 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PEX26 Tyr109His Y109H pathogenic High clinical importance, Uncertain pathogenic recessive Array rs45567240 31 10758 0.00288158 1 0 1 0 0 2 Y - - 0 Y - - 5 Y 1 - Y - - - 0.999 Y Y -1 - 4 N 2 0 Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving peroxisome dysfunction (neonatal adrenoleukodystrophy, infantile refsum disease, and Zellweger syndrome). PEX26 Leu153Val L153V not reviewed Insufficiently evaluated not reviewed recessive Array rs12484657 143 10758 0.0132924 1 0 1 2 2 - - - - - - - - - - - - Y - - - 0.988 Y Y 0 - 5 - 1 - - This variant was found in cis with R288fs366X in a female with Infantile Refsum Disorder. Functional assays showed this combination to have a mild phenotype. PEX3 Gln82Arg Q82R not reviewed Insufficiently evaluated not reviewed unknown Array rs35220041 54 10756 0.00502045 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.288 Y Y 0 - 3 N - - PEX5 Met235Thr M235T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PEX5 Met272Thr M272T not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PEX5 Met287Thr M287T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PEX5 Arg296His R296H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PEX5 Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array rs59209175 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PEX5 Arg333His R333H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.869 Y Y 1 - 4 N - - PEX5 Arg348His R348H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PEX6 Ala956Val A956V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PEX6 Pro939Gln P939Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1129187 4629 10758 0.430284 25 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 - 1 - - PEX6 Ala809Val A809V not reviewed Insufficiently evaluated not reviewed unknown Array rs35830695 870 10758 0.08087 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 3 - - PEX6 Val778Met V778M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PFAS Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array rs9891699 7507 10758 0.697806 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PFAS Pro367Leu P367L not reviewed Insufficiently evaluated not reviewed unknown Array rs4791641 4446 10758 0.413274 36 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PFAS Leu621Pro L621P not reviewed Insufficiently evaluated not reviewed unknown Array rs11078738 7377 10758 0.685722 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PFAS Ile834Thr I834T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PFAS Ala1225Thr A1225T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10748 0.00558243 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PFKFB1 Leu27Arg L27R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PFKFB2 Val458Gly V458G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PFKM Arg100Gln R100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228500 1836 10758 0.170664 16 0 17 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 0 - 2 - 2 - - PFKP Glu526Gly E526G not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 6 Y 0 N - - PGA3 Lys2Arg K2R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10756 0.00576422 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - PGAM2 Gly97Asp G97D pathogenic Insufficiently evaluated pathogenic dominant Array 1 128 0.0078125 2 0 1 1 1 4 Y - - 2 Y 0 Y 2 Y 3 Y Y Y - - 0.996 Y - 4 Y Phosphoglycerate Mutase Deficiency 1 0 0 20 INF 5 N 2 - - This variant was implicated in a dominant fashion for causing Phosphoglycerate Mutase Deficiency in single Japanese family but had conflicting evidence -- two heterozygotes were asymptomatic. This is labeled as dominant, but disease-causing mutations in this gene are generally recessive. PGAM5 Pro242Leu P242L not reviewed Insufficiently evaluated not reviewed unknown Array rs12423651 278 10758 0.0258412 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PGAM5 Leu252Val L252V not reviewed Insufficiently evaluated not reviewed unknown Array rs17855393 410 10758 0.0381112 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PGAP1 Asn792Ser N792S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PGBD1 Gly244Glu G244E not reviewed Insufficiently evaluated not reviewed unknown Array rs3800324 755 10758 0.0701803 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PGBD1 Gln248Glu Q248E not reviewed Insufficiently evaluated not reviewed unknown Array rs3800325 2315 10758 0.215189 20 0 28 0 0 - - - - - - - - - - - - - - - - 0.151 - - -2 - 0 N - - PGBD1 Pro256Leu P256L not reviewed Insufficiently evaluated not reviewed unknown Array rs3800326 394 10758 0.0366239 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PGBD1 Asn398Ser N398S not reviewed Insufficiently evaluated not reviewed unknown Array rs33932084 824 10758 0.0765942 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - PGBD1 Met592Ile M592I not reviewed Insufficiently evaluated not reviewed unknown Array rs16893917 754 10758 0.0700874 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.027 - - -1 - 0 N - - PGBD1 Ile678Val I678V not reviewed Insufficiently evaluated not reviewed unknown Array rs1997660 5336 10758 0.496003 40 0 64 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PGBD1 His806Asp H806D not reviewed Insufficiently evaluated not reviewed unknown Array rs6456811 2310 10758 0.214724 20 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PGBD2 Val105Ile V105I not reviewed Insufficiently evaluated not reviewed unknown Array rs74157349 334 10758 0.0310467 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PGBD2 Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - PGBD2 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGBD2 Leu316Val L316V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - PGBD2 Leu65Val L65V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGBD3 Arg382Lys R382K not reviewed Insufficiently evaluated not reviewed unknown Array rs4253072 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PGBD4 Thr65Ile T65I not reviewed Insufficiently evaluated not reviewed unknown Array rs73374372 253 10758 0.0235174 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGBD4 Arg556Gln R556Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGBD4 Thr581Lys T581K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGBD4 Lys582Glu K582E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGBD5 Val127Met V127M not reviewed Insufficiently evaluated not reviewed unknown Array rs2009265 1622 10758 0.150772 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.052 - - 0 - 0 N - - PGBD5 Ser116Ala S116A not reviewed Insufficiently evaluated not reviewed unknown Array rs74143198 1597 10758 0.148448 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.43 - - -1 - 0 N - - PGBD5 Leu99Val L99V not reviewed Insufficiently evaluated not reviewed unknown Array rs74143202 957 10758 0.0889571 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - PGD Met22Ile M22I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PGD Asp246Asn D246N not reviewed Insufficiently evaluated not reviewed unknown Array rs2229688 336 10758 0.0312326 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PGGT1B Ile103Val I103V not reviewed Insufficiently evaluated not reviewed unknown Array rs34918686 214 10756 0.0198959 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PGLS Pro67Leu P67L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.566 - - 7 Y 1 N - - PGLS Gln230Glu Q230E not reviewed Insufficiently evaluated not reviewed unknown Array rs73922227 60 10740 0.00558659 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - -2 - 0 N - - PGLYRP2 Arg476Trp R476W not reviewed Insufficiently evaluated not reviewed unknown Array rs2304200 611 10618 0.0575438 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - PGLYRP2 His464Tyr H464Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61734899 189 10652 0.0177431 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - PGLYRP2 Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34440547 2024 10748 0.188314 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - PGLYRP2 Met270Lys M270K not reviewed Insufficiently evaluated not reviewed unknown Array rs892145 4087 10758 0.379903 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.2 - - 4 Y 0 N - - PGLYRP2 Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs733731 3988 10758 0.370701 37 0 47 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PGLYRP2 Thr46Ala T46A not reviewed Insufficiently evaluated not reviewed unknown Array rs3813135 3986 10758 0.370515 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PGLYRP3 Gly126Ser G126S not reviewed Insufficiently evaluated not reviewed unknown Array rs843971 4183 10758 0.388827 43 0 50 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 1 N - - PGLYRP3 Ala84Pro A84P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - PGLYRP3 Arg68Trp R68W not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.742 - - 7 Y 1 N - - PGLYRP3 Ala35Thr A35T not reviewed Insufficiently evaluated not reviewed unknown Array rs55991125 439 10756 0.0408144 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PGLYRP4 Asp301Asn D301N not reviewed Insufficiently evaluated not reviewed unknown Array rs35347202 190 10758 0.0176613 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PGLYRP4 Val213Ile V213I not reviewed Insufficiently evaluated not reviewed unknown Array rs12063091 900 10758 0.0836587 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PGLYRP4 Ser205Arg S205R not reviewed Insufficiently evaluated not reviewed unknown Array rs73014502 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - PGLYRP4 Gly192Val G192V not reviewed Insufficiently evaluated not reviewed unknown Array rs3006448 8870 10758 0.824503 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PGLYRP4 Ile13Leu I13L not reviewed Insufficiently evaluated not reviewed unknown Array rs3006458 8706 10758 0.809258 50 0 79 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PGLYRP4 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array rs12096209 1131 10758 0.105131 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PGM1 Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array rs855314 1894 10758 0.176055 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.839 - - -4 - 0 N - - PGM1 Arg221Cys R221C not reviewed Insufficiently evaluated not reviewed unknown Array rs1126728 2436 10758 0.226436 26 0 29 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - PGM1 Tyr420His Y420H not reviewed Insufficiently evaluated not reviewed unknown Array rs11208257 1961 10758 0.182283 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PGM1 Val501Ile V501I not reviewed Insufficiently evaluated not reviewed unknown Array rs6676290 550 10758 0.0511247 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PGM2 Glu488Asp E488D not reviewed Insufficiently evaluated not reviewed unknown Array rs10001580 804 10756 0.074749 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PGM2L1 Asn608Ile N608I not reviewed Insufficiently evaluated not reviewed unknown Array rs36014178 424 10758 0.0394125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.09 - - 7 Y 1 - 3 - - PGM2L1 Val531Ile V531I not reviewed Insufficiently evaluated not reviewed unknown Array rs592644 7678 10756 0.713834 55 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PGM2L1 Leu14Pro L14P not reviewed Insufficiently evaluated not reviewed unknown Array rs12049823 1494 10758 0.138873 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PGM3 Asp466Asn D466N not reviewed Insufficiently evaluated not reviewed unknown Array rs473267 3807 10758 0.353876 34 0 47 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - PGM3 Arg174Leu R174L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 6 Y 1 N - - PGM5 Asp529Asn D529N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.517 - - -1 - 1 N - - PGP Glu5Lys E5K not reviewed Insufficiently evaluated not reviewed unknown Array 41 848 0.0483491 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 2 - 10 - - PGR Val660Leu V660L not reviewed Insufficiently evaluated not reviewed unknown Array rs1042838 1259 10758 0.117029 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PGR Ala444Ser A444S not reviewed Insufficiently evaluated not reviewed unknown Array rs11571150 200 7630 0.0262123 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PGR Val355Ala V355A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PGR Ser344Thr S344T not reviewed Insufficiently evaluated not reviewed unknown Array rs3740753 1103 10374 0.106324 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.15 - - -2 - 0 N - - PHACTR2 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PHACTR2 Pro165Ser P165S not reviewed Insufficiently evaluated not reviewed unknown Array rs2073214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHACTR2 Pro176Ser P176S not reviewed Insufficiently evaluated not reviewed unknown Array rs2073214 1838 9804 0.187475 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PHACTR3 Pro176Leu P176L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHACTR3 Pro217Leu P217L not reviewed Insufficiently evaluated not reviewed unknown Array rs73598372 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - PHACTR4 Leu380Ile L380I not reviewed Insufficiently evaluated not reviewed unknown Array rs61785974 2782 9706 0.286627 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - PHACTR4 Leu390Ile L390I not reviewed Insufficiently evaluated not reviewed unknown Array rs61785974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHAX Asp64Asn D64N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - PHAX Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array rs3734173 328 10758 0.0304889 6 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PHAX Ser164Tyr S164Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61747689 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.239 - - 5 Y 1 N - - PHC1 Gln59Stop Q59X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PHC1 Pro448Leu P448L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHC1 Gln467Lys Q467K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10592 0.000283232 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHC1 Thr693Ala T693A not reviewed Insufficiently evaluated not reviewed unknown Array rs1049925 3840 10758 0.356944 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PHC1 Pro781Ser P781S not reviewed Insufficiently evaluated not reviewed unknown Array 235 10758 0.0218442 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHC1 Asp880Glu D880E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHC2 Val475Met V475M not reviewed Insufficiently evaluated not reviewed unknown Array rs12026290 1853 10758 0.172244 17 0 23 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PHC2 Pro254Ser P254S not reviewed Insufficiently evaluated not reviewed unknown Array rs10914692 1410 10756 0.13109 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - PHC2 Ala145Val A145V not reviewed Insufficiently evaluated not reviewed unknown Array rs41265897 286 10758 0.0265849 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - PHC3 Arg849His R849H not reviewed Insufficiently evaluated not reviewed unknown Array 4 9756 0.000410004 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF1 Arg304Lys R304K not reviewed Insufficiently evaluated not reviewed unknown Array rs3116713 10071 10758 0.936141 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PHF1 Arg379Lys R379K not reviewed Insufficiently evaluated not reviewed unknown Array 115 10660 0.010788 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PHF10 Arg214Trp R214W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHF10 Arg216Trp R216W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PHF11 Asp12Tyr D12Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHF11 Asp51Tyr D51Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 7 Y 2 N - - PHF12 Pro396Ser P396S not reviewed Insufficiently evaluated not reviewed unknown Array rs73266406 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.141 - - 3 - 0 N - - PHF14 Lys115Arg K115R not reviewed Insufficiently evaluated not reviewed unknown Array rs218966 6258 9128 0.685583 48 0 78 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PHF14 Ser225Cys S225C not reviewed Insufficiently evaluated not reviewed unknown Array 220 10412 0.0211295 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHF15 Gly614Arg G614R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.735 - - 6 Y 1 N - - PHF15 Arg645Lys R645K not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - PHF17 Asn662Ser N662S not reviewed Insufficiently evaluated not reviewed unknown Array rs6855813 292 10758 0.0271426 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHF2 Val449Ile V449I not reviewed Insufficiently evaluated not reviewed unknown Array rs10992837 181 10754 0.0168309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PHF2 Arg749His R749H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF20 Val605Met V605M not reviewed Insufficiently evaluated not reviewed unknown Array rs17431878 1041 10758 0.0967652 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PHF20 Asp611Glu D611E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - PHF21A Arg347His R347H not reviewed Insufficiently evaluated not reviewed unknown Array rs3736508 310 10758 0.0288158 11 0 16 0 0 - - - - - - - - - - - - - - - - 0.521 - - 1 - 1 N - - PHF21A Arg348His R348H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF21B Thr478Ile T478I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHF21B Thr520Ile T520I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - PHF3 Lys148Arg K148R not reviewed Insufficiently evaluated not reviewed unknown Array rs41271581 70 10756 0.006508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - PHF3 Ala854Thr A854T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF7 Lys211Glu K211E not reviewed Insufficiently evaluated not reviewed unknown Array rs35944133 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PHIP Thr1529Pro T1529P not reviewed Insufficiently evaluated not reviewed unknown Array rs61022448 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PHIP Leu1093Pro L1093P not reviewed Insufficiently evaluated not reviewed unknown Array rs9350797 2882 10758 0.267894 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PHIP Val927Gly V927G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.577 - - 8 Y 1 N - - PHIP Thr874Ile T874I not reviewed Insufficiently evaluated not reviewed unknown Array rs11547228 822 10758 0.0764083 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.792 - - 3 - 0 N - - PHIP Val663Gly V663G not reviewed Insufficiently evaluated not reviewed unknown Array rs7747479 10024 10758 0.931772 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PHKB Ile367Thr I367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.547 Y - 3 - 2 N - - PHKB Ile374Thr I374T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 3 - 4 - 1 - - PHKB Pro518His P518H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - PHKB Pro525His P525H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 5 Y 3 N - - PHKB Tyr763Cys Y763C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PHKB Tyr770Cys Y770C not reviewed Insufficiently evaluated not reviewed unknown Array rs16945474 886 10758 0.0823573 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.479 Y - 6 Y 2 - 10 - - PHKB Arg1034Trp R1034W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PHKB Arg1041Trp R1041W not reviewed Insufficiently evaluated not reviewed unknown Array 111 10752 0.0103237 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.385 Y - 7 Y 2 N - - PHLDB1 Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734531 380 10758 0.0353226 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - PHLDB2 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - PHLDB2 Arg197Gln R197Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHLDB2 Ser529Thr S529T not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHLDB2 Ser556Thr S556T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - PHLDB2 Pro898Ser P898S not reviewed Insufficiently evaluated not reviewed unknown Array rs3749298 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHLDB2 Pro925Ser P925S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHLDB2 Pro941Ser P941S not reviewed Insufficiently evaluated not reviewed unknown Array 720 10758 0.0669269 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - PHLDB3 Ala150Pro A150P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PHLPP1 Glu265Asp E265D not reviewed Insufficiently evaluated not reviewed unknown Array 48 9588 0.00500626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHLPP1 Tyr897Cys Y897C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PHLPP1 Tyr897Stop Y897X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PHLPP1 Gly898Cys G898C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHLPP2 Arg1312Gln R1312Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733124 940 10758 0.0873768 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PHLPP2 Leu1016Ser L1016S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733127 1215 10758 0.112939 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.41 - - 6 Y 0 N - - PHOSPHO2 Lys206Glu K206E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 1 - 2 - - PHOX2A Ala45Ser A45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.012 - Y -1 - 1 N - - PHPT1 Phe20Leu F20L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PHRF1 Ser361Asn S361N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PHRF1 Gly741Arg G741R not reviewed Insufficiently evaluated not reviewed unknown Array 33 9638 0.00342395 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PHRF1 Ser1167Leu S1167L not reviewed Insufficiently evaluated not reviewed unknown Array 183 10566 0.0173197 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - PHRF1 Val1448Ala V1448A not reviewed Insufficiently evaluated not reviewed unknown Array rs11246212 8373 9696 0.863552 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PHRF1 Pro1465Arg P1465R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PHRF1 Asp1466Asn D1466N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PHRF1 Ala1546Val A1546V not reviewed Insufficiently evaluated not reviewed unknown Array 285 9898 0.0287937 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PHTF2 Arg346His R346H not reviewed Insufficiently evaluated not reviewed unknown Array rs848486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHTF2 Arg350His R350H not reviewed Insufficiently evaluated not reviewed unknown Array rs848486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHYH Pro29Ser P29S benign Low clinical importance, Uncertain benign undefined Array rs28938169 1671 10758 0.155326 6 0 6 2 2 1 Y - - 3 Y 0 - 0 - 0 - Y Y - - 0.006 Y Y 3 - Refsum Disease 6 65 10 182 1.680 4 N 5 0 0 Probably benign. This variant was implicated as causing Refsum Disease in a recessive manner, but a subsequent publication noted that all instances were linked with other explanatory mutations. The high allele frequency of this variant in the population (7-13%) contradicts a pathogenic hypothesis. PHYHD1 Val177Met V177M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHYHD1 Val198Met V198M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 0 - 0 N - - PHYHD1 Glu193Gly E193G not reviewed Insufficiently evaluated not reviewed unknown Array rs2273866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PHYHIP Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.521 - - 1 - 1 N - - PHYHIPL Val316Leu V316L not reviewed Insufficiently evaluated not reviewed unknown Array rs2452505 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHYHIPL Val342Leu V342L not reviewed Insufficiently evaluated not reviewed unknown Array rs2452505 7908 10758 0.735081 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PI16 Phe7Cys F7C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - PI16 Thr50Pro T50P not reviewed Insufficiently evaluated not reviewed unknown Array rs1405069 5733 10758 0.532906 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PI16 Val288Ala V288A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PI16 Leu416Val L416V not reviewed Insufficiently evaluated not reviewed unknown Array rs16889318 769 10758 0.0714817 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 0 N - - PI3 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array rs41282752 315 10758 0.0292805 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 1 - 10 - - PI3 Thr17Met T17M not reviewed Insufficiently evaluated not reviewed unknown Array rs17333103 1689 10758 0.156999 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PI3 Thr25Pro T25P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - PI3 Thr34Pro T34P not reviewed Insufficiently evaluated not reviewed unknown Array rs2664581 1755 10758 0.163134 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PI4K2B Glu6Lys E6K not reviewed Insufficiently evaluated not reviewed unknown Array 482 8152 0.0591266 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - PI4K2B Ser78Pro S78P not reviewed Insufficiently evaluated not reviewed unknown Array rs313549 2803 4004 0.70005 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PI4KA Lys1711Thr K1711T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PI4KA Lys521Thr K521T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PI4KA Arg1283Gln R1283Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PI4KA Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PI4KA Ala1181Gly A1181G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PI4KA Leu1180Val L1180V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.572 - - 0 - 1 N - - PIAS1 Thr628Ser T628S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIAS3 Ser616Phe S616F not reviewed Insufficiently evaluated not reviewed unknown Array rs72995955 15 10742 0.00139639 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.099 - - 5 Y 1 - 1 - - PIAS4 Pro77Leu P77L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.095 - - 7 Y 0 N - - PIAS4 Ala463Thr A463T not reviewed Insufficiently evaluated not reviewed unknown Array 123 10728 0.0114653 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PIBF1 Ile167Val I167V not reviewed Insufficiently evaluated not reviewed unknown Array rs1372000 3551 10754 0.330203 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PICALM Leu188Ile L188I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - -2 - 2 N - - PICK1 Ser77Ala S77A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - -1 - 1 N - - PIF1 Ile640Asn I640N not reviewed Insufficiently evaluated not reviewed unknown Array rs17802279 4388 10758 0.407883 39 0 44 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PIF1 Arg615Gln R615Q not reviewed Insufficiently evaluated not reviewed unknown Array 184 10754 0.0171099 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - PIF1 Arg491Gln R491Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61128222 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - PIF1 Glu49Stop E49X not reviewed Insufficiently evaluated not reviewed unknown Array 24 3704 0.00647948 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PIGA Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array rs34422225 274 8761 0.031275 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 7 Y 0 N - - PIGB Met162Thr M162T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290344 847 9640 0.0878631 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PIGB Trp299Leu W299L not reviewed Insufficiently evaluated not reviewed unknown Array rs678892 4545 9692 0.468943 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PIGC Pro266Ser P266S not reviewed Insufficiently evaluated not reviewed unknown Array rs1063412 4478 10758 0.416248 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - PIGG Ser55Tyr S55Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34120878 151 10758 0.0140361 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - PIGG Arg450His R450H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIGG Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array rs13115344 2054 10758 0.190928 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - PIGG Cys602Arg C602R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PIGG Cys610Arg C610R not reviewed Insufficiently evaluated not reviewed unknown Array rs7666425 2128 10758 0.197806 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PIGG Val691Ile V691I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PIGG Val699Ile V699I not reviewed Insufficiently evaluated not reviewed unknown Array rs13114026 1679 10758 0.15607 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - PIGG Val723Ile V723I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PIGG Val731Ile V731I not reviewed Insufficiently evaluated not reviewed unknown Array rs34916638 410 10758 0.0381112 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - PIGG Ile873Thr I873T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIGG Ile881Thr I881T not reviewed Insufficiently evaluated not reviewed unknown Array rs34623004 2089 10758 0.194181 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PIGG Phe924Ser F924S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PIGG Phe932Ser F932S not reviewed Insufficiently evaluated not reviewed unknown Array rs1127410 2092 10758 0.19446 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PIGK Thr16Ala T16A not reviewed Insufficiently evaluated not reviewed unknown Array rs12723684 1944 10756 0.180736 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PIGM Phe365Leu F365L not reviewed Insufficiently evaluated not reviewed unknown Array rs12409352 1377 10758 0.127998 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 0 N - - PIGN Ile746Met I746M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIGN Ile470Leu I470L not reviewed Insufficiently evaluated not reviewed unknown Array rs3862712 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIGN His229Asp H229D not reviewed Insufficiently evaluated not reviewed unknown Array rs9320001 7437 9424 0.789155 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PIGO Ala675Pro A675P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 2 - 0 N - - PIGP Arg112Ser R112S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIGP Arg136Ser R136S not reviewed Insufficiently evaluated not reviewed unknown Array rs2276231 25 10758 0.00232385 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.76 - - 3 - 1 N - - PIGP Ala119Glu A119E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - PIGP Ala95Glu A95E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PIGP Ile66Val I66V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PIGP Ile90Val I90V not reviewed Insufficiently evaluated not reviewed unknown Array rs73901833 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PIGP Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array rs2507733 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIGP Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array rs73200245 2355 10758 0.218907 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PIGQ Thr14Ala T14A not reviewed Insufficiently evaluated not reviewed unknown Array rs2071979 4669 10756 0.434083 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIGQ Cys97Phe C97F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - PIGQ Gly523Ser G523S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PIGQ Cys592Arg C592R not reviewed Insufficiently evaluated not reviewed unknown Array rs1045277 4659 10758 0.433073 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PIGQ Cys668Arg C668R not reviewed Insufficiently evaluated not reviewed unknown Array rs710924 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PIGQ Cys668Tyr C668Y not reviewed Insufficiently evaluated not reviewed unknown Array rs710925 4418 10748 0.411053 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PIGR Ala580Val A580V pathogenic Low clinical importance, Likely pathogenic other Array rs291102 2663 10758 0.247537 27 0 39 1 1 1 Y - - 4 Y 0 Y 4 - 2 - - Y - - 0.001 - - 2 - 2 N 0 1 In a Japanese study, this variant was associated with an increased risk for immunoglobulin A nephropathy (IgAN), a rare disease. The chances of having this disease, even with this variant, is less than 0.1%. PIGR Thr555Ile T555I not reviewed Insufficiently evaluated not reviewed unknown Array rs7542760 773 10758 0.0718535 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 1 N - - PIGR Gly365Ser G365S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275531 4017 10756 0.373466 30 0 36 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - PIGR Val346Ile V346I not reviewed Insufficiently evaluated not reviewed unknown Array rs12748810 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - -4 - 2 - 3 - - PIGS Gly343Ser G343S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 2 - 3 - 1 - - PIGS Arg253His R253H not reviewed Insufficiently evaluated not reviewed unknown Array rs34669811 245 10758 0.0227737 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 1 - 3 - - PIGT Asp257Ala D257A not reviewed Insufficiently evaluated not reviewed unknown Array rs61753669 213 10758 0.0197992 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - PIGU Gly333Glu G333E not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 1 - - PIGW Asn126Asp N126D not reviewed Insufficiently evaluated not reviewed unknown Array rs72818370 410 10758 0.0381112 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.059 - - -1 - 0 N - - PIGX Val149Ala V149A not reviewed Insufficiently evaluated not reviewed unknown Array rs73072734 69 10756 0.00641502 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PIGZ Met487Ile M487I not reviewed Insufficiently evaluated not reviewed unknown Array rs17855662 567 10758 0.052705 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.974 - - -1 - 1 N - - PIGZ Val417Ala V417A not reviewed Insufficiently evaluated not reviewed unknown Array rs1147238 2405 10756 0.223596 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - PIGZ Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4916589 6543 10750 0.608651 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PIGZ Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array rs71611508 6249 10758 0.58087 44 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIGZ Pro150Leu P150L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIGZ Ala79Thr A79T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIGZ Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 7 Y 0 N - - PIH1D1 Pro287Leu P287L not reviewed Insufficiently evaluated not reviewed unknown Array rs7462 3320 10758 0.308608 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PIH1D1 Asp230Glu D230E not reviewed Insufficiently evaluated not reviewed unknown Array rs34198213 200 10758 0.0185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - -2 - 3 - 2 - - PIH1D1 Val224Ile V224I not reviewed Insufficiently evaluated not reviewed unknown Array rs13394 8737 10758 0.81214 54 0 92 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PIH1D1 Gly10Glu G10E not reviewed Insufficiently evaluated not reviewed unknown Array rs2293013 7701 10758 0.715839 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PIH1D1 Met9Leu M9L not reviewed Insufficiently evaluated not reviewed unknown Array rs2293012 7702 10758 0.715932 47 0 69 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - PIH1D2 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array rs1425917 779 10758 0.0724112 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.294 - - 2 - 0 N - - PIH1D2 Ala102Asp A102D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - PIK3AP1 Lys638Arg K638R not reviewed Insufficiently evaluated not reviewed unknown Array rs12784975 1870 10758 0.173824 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PIK3AP1 Ala83Ser A83S not reviewed Insufficiently evaluated not reviewed unknown Array rs3748229 4110 10758 0.382041 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PIK3AP1 Glu21Lys E21K not reviewed Insufficiently evaluated not reviewed unknown Array rs17112076 1415 10750 0.131628 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PIK3AP1 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array rs73334383 117 10600 0.0110377 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - PIK3C2A Thr1415Ala T1415A not reviewed Insufficiently evaluated not reviewed unknown Array rs11604561 1279 10758 0.118888 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PIK3C2A Ser586Asn S586N not reviewed Insufficiently evaluated not reviewed unknown Array 92 10756 0.00855337 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3C2A Glu568Ala E568A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - 3 - 0 N - - PIK3C2B Thr1621Ser T1621S not reviewed Insufficiently evaluated not reviewed unknown Array rs61758020 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIK3C2B Met1223Leu M1223L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PIK3C2B Ser1043Arg S1043R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIK3C2B Pro715His P715H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PIK3C2B Cys691Trp C691W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIK3C2G Asp138Glu D138E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIK3C2G Pro146Leu P146L not reviewed Insufficiently evaluated not reviewed unknown Array rs11044004 3659 9466 0.386541 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PIK3C2G Pro911Leu P911L not reviewed Insufficiently evaluated not reviewed unknown Array rs12312266 2781 9494 0.292922 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PIK3C3 Pro775Ser P775S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.261 - - 3 - 1 N - - PIK3CA Gln60Lys Q60K not reviewed Insufficiently evaluated not reviewed unknown Array 2 9486 0.000210837 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 9 - - PIK3CA Ile391Met I391M not reviewed Insufficiently evaluated not reviewed unknown Array rs3729680 1058 9652 0.109615 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PIK3CG Ser442Tyr S442Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17847825 859 10758 0.0798476 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.886 - - 5 Y 1 N - - PIK3CG Thr857Ala T857A not reviewed Insufficiently evaluated not reviewed unknown Array rs28763991 577 10758 0.0536345 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIK3IP1 Thr251Ser T251S not reviewed Insufficiently evaluated not reviewed unknown Array rs2040533 8579 10758 0.797453 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PIK3IP1 Gly65Ser G65S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10470 0.000764087 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 2 N - - PIK3R1 Met26Ile M26I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIK3R1 Met326Ile M326I not reviewed Insufficiently evaluated not reviewed unknown Array rs3730089 2564 10758 0.238334 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PIK3R1 Met56Ile M56I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIK3R2 Arg16Cys R16C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - PIK3R2 Ser234Arg S234R not reviewed Insufficiently evaluated not reviewed unknown Array rs2241088 556 578 0.961938 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PIK3R2 Ser313Pro S313P not reviewed Insufficiently evaluated not reviewed unknown Array rs1011320 10254 10750 0.95386 52 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PIK3R3 Asn283Lys N283K not reviewed Insufficiently evaluated not reviewed unknown Array rs785467 7740 10758 0.719465 50 0 73 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIK3R4 Leu699Val L699V not reviewed Insufficiently evaluated not reviewed unknown Array rs56369596 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.433 - - 0 - 2 - 2 - - PIKFYVE Met617Val M617V not reviewed Insufficiently evaluated not reviewed unknown Array rs16840913 398 10758 0.0369957 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.744 - - 0 - 1 N - - PIKFYVE Ser696Asn S696N not reviewed Insufficiently evaluated not reviewed unknown Array rs10932258 10663 10748 0.992092 55 0 110 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - PIKFYVE Leu932Ser L932S not reviewed Insufficiently evaluated not reviewed unknown Array rs2363468 9897 10758 0.919967 56 0 102 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 0 N - - PIKFYVE Gln995Leu Q995L not reviewed Insufficiently evaluated not reviewed unknown Array rs893254 9896 10758 0.919874 52 0 94 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 0 N - - PIKFYVE Thr998Ser T998S not reviewed Insufficiently evaluated not reviewed unknown Array rs893253 9907 10758 0.920896 54 0 98 0 0 - - - - - - - - - - - - Y - - - - - - -2 - 0 N - - PIKFYVE Ser1033Ala S1033A not reviewed Insufficiently evaluated not reviewed unknown Array rs999890 1502 10758 0.139617 10 0 12 0 0 - - - - - - - - - - - - Y - - - 0.92 - - -1 - 1 N - - PIKFYVE Gln1183Lys Q1183K not reviewed Insufficiently evaluated not reviewed unknown Array rs1529979 9896 10758 0.919874 56 0 102 0 0 - - - - - - - - - - - - Y - - - - - - -2 - 0 N - - PILRA Arg78Gly R78G not reviewed Insufficiently evaluated not reviewed unknown Array rs1859788 8004 10758 0.744004 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PILRA Ser206Leu S206L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - PILRA Ser279Leu S279L not reviewed Insufficiently evaluated not reviewed unknown Array rs34266222 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 6 Y 1 - 3 - - PIM1 Pro311Thr P311T not reviewed Insufficiently evaluated not reviewed unknown Array rs36084391 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PIM3 Val300Ala V300A not reviewed Insufficiently evaluated not reviewed unknown Array rs4077129 8117 10734 0.756195 46 0 74 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PIN4 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6525589 7362 8761 0.840315 51 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PIN4 Ser18Arg S18R not reviewed Insufficiently evaluated not reviewed unknown Array rs7058353 7363 8761 0.840429 51 0 93 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PINK1 Ala340Thr A340T not reviewed Insufficiently evaluated not reviewed unknown Array rs3738136 410 10758 0.0381112 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - PINK1 Ala383Thr A383T not reviewed Insufficiently evaluated not reviewed unknown Array rs45515602 2 10758 0.000185908 2 0 1 1 1 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 7 - - PINK1 Asn521Thr N521T not reviewed Insufficiently evaluated not reviewed unknown Array rs1043424 2897 10758 0.269288 26 0 30 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 9 - - PINX1 Ser254Cys S254C not reviewed Insufficiently evaluated not reviewed unknown Array rs1078543 18 124 0.145161 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 0 N - - PINX1 Asp75Asn D75N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - -1 - 1 - 1 - - PION Val649Ile V649I not reviewed Insufficiently evaluated not reviewed unknown Array rs17151692 1063 9998 0.106321 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PION Asp484His D484H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - PION Gly305Glu G305E not reviewed Insufficiently evaluated not reviewed unknown Array rs1527263 3638 10758 0.338167 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PION Ile158Thr I158T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9514 0.000210216 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PION His47Arg H47R not reviewed Insufficiently evaluated not reviewed unknown Array rs6949654 8183 9142 0.8951 50 0 93 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIP Gln79His Q79H not reviewed Insufficiently evaluated not reviewed unknown Array rs73170678 1078 10756 0.100223 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PIP4K2A Asn251Ser N251S not reviewed Insufficiently evaluated not reviewed unknown Array rs10828317 2655 10756 0.246839 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PIP4K2A Asp139Asn D139N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - PIP4K2B Gly185Ser G185S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - PIP5K1A Pro445Leu P445L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIP5K1A Pro472Leu P472L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIP5K1A Pro485Leu P485L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIP5K1B Ala415Thr A415T not reviewed Insufficiently evaluated not reviewed unknown Array rs55897616 545 10758 0.05066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PIP5K1C Pro659Ser P659S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10724 0.00335696 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIP5K1C Ser539Pro S539P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 3 - 1 N - - PIPOX Glu99Lys E99K not reviewed Insufficiently evaluated not reviewed unknown Array rs58011977 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PIPOX Arg211Cys R211C not reviewed Insufficiently evaluated not reviewed unknown Array rs7213119 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.842 - - 8 Y 2 - 5 - - PIR Asp232Asn D232N not reviewed Insufficiently evaluated not reviewed unknown Array 85 8761 0.00970209 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 1 - - PISD Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array rs57725422 156 10758 0.0145008 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PITPNC1 Val204Ala V204A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.465 - - 2 - 1 N - - PITPNM1 Cys576Arg C576R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PITPNM2 Glu1072Asp E1072D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - PITPNM2 Leu661Met L661M not reviewed Insufficiently evaluated not reviewed unknown Array rs55813219 531 10758 0.0493586 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PITPNM2 Arg312Gln R312Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - PITPNM3 Arg292Trp R292W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - PITPNM3 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs3809835 3400 10758 0.316044 28 0 32 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - PITPNM3 Pro17Ser P17S not reviewed Insufficiently evaluated not reviewed unknown Array rs28493751 934 10758 0.0868191 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - PITRM1 Gln1037Arg Q1037R not reviewed Insufficiently evaluated not reviewed unknown Array rs6901 7271 10174 0.714665 47 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PITRM1 Pro969Leu P969L not reviewed Insufficiently evaluated not reviewed unknown Array rs2279218 14 10140 0.00138067 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - PITRM1 Val963Ile V963I not reviewed Insufficiently evaluated not reviewed unknown Array rs17849904 585 10066 0.0581164 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.089 - - -4 - 1 - 2 - - PITRM1 Leu883Phe L883F not reviewed Insufficiently evaluated not reviewed unknown Array rs71477812 70 9582 0.00730536 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PITRM1 Thr876Met T876M not reviewed Insufficiently evaluated not reviewed unknown Array rs35046873 97 10036 0.00966521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.534 - - 2 - 1 N - - PITRM1 Val621Ile V621I not reviewed Insufficiently evaluated not reviewed unknown Array rs2388556 1579 10252 0.154019 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.782 - - -4 - 0 N - - PITRM1 Phe618Leu F618L not reviewed Insufficiently evaluated not reviewed unknown Array rs41305673 358 10194 0.0351187 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PITRM1 Gln516His Q516H not reviewed Insufficiently evaluated not reviewed unknown Array rs3765101 535 10316 0.0518612 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 5 - - PITRM1 Ala397Val A397V not reviewed Insufficiently evaluated not reviewed unknown Array rs3182535 6718 9850 0.68203 41 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PITRM1 Ile328Val I328V not reviewed Insufficiently evaluated not reviewed unknown Array rs4242746 3558 5172 0.687935 44 0 73 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PITRM1 Phe169Ser F169S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814596 1690 9668 0.174803 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.939 - - 5 Y 1 N - - PITRM1 Leu145Val L145V not reviewed Insufficiently evaluated not reviewed unknown Array rs9423502 451 9522 0.047364 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - PITRM1 Gln8Arg Q8R not reviewed Insufficiently evaluated not reviewed unknown Array rs11818724 343 9168 0.0374127 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PITX1 Gly299Ala G299A not reviewed Insufficiently evaluated not reviewed unknown Array rs479632 2319 10758 0.215561 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PITX2 Ala135Thr A135T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - PITX2 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - PITX2 Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PIWIL1 Arg527Lys R527K not reviewed Insufficiently evaluated not reviewed unknown Array rs1106042 496 10754 0.0461224 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PIWIL2 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - PIWIL2 Ala518Gly A518G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PIWIL2 Glu564Val E564V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PIWIL2 Glu564Asp E564D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PIWIL2 Gly630Ser G630S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - PIWIL3 Arg878Cys R878C not reviewed Insufficiently evaluated not reviewed unknown Array rs61733498 282 10758 0.026213 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - PIWIL3 Val471Ile V471I not reviewed Insufficiently evaluated not reviewed unknown Array rs11703684 2036 10758 0.189255 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PIWIL3 Val418Met V418M not reviewed Insufficiently evaluated not reviewed unknown Array rs1892723 10079 10758 0.936884 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PIWIL3 Cys412Arg C412R not reviewed Insufficiently evaluated not reviewed unknown Array rs1892722 6661 10758 0.619167 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PIWIL3 Pro375Ser P375S not reviewed Insufficiently evaluated not reviewed unknown Array rs1475853 321 10758 0.0298383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.856 - - 3 - 3 - 5 - - PIWIL3 Leu324Val L324V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - PIWIL3 Tyr274His Y274H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -1 - 0 N - - PIWIL3 Pro186Leu P186L not reviewed Insufficiently evaluated not reviewed unknown Array rs61083377 133 10758 0.0123629 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PIWIL3 Arg173Cys R173C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - PIWIL3 Gln126Glu Q126E not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - PIWIL3 Arg10Gln R10Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.9 - - 0 - 2 N - - PIWIL3 Arg8Cys R8C not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 8 Y 0 N - - PIWIL4 Gln327Leu Q327L not reviewed Insufficiently evaluated not reviewed unknown Array rs11020845 358 10758 0.0332776 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - PIWIL4 Met355Val M355V not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - PIWIL4 Ala370Pro A370P not reviewed Insufficiently evaluated not reviewed unknown Array rs57607909 2596 10758 0.241309 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PIWIL4 Thr486Asn T486N not reviewed Insufficiently evaluated not reviewed unknown Array 306 10758 0.0284439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIWIL4 Cys505Phe C505F not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - 4 Y 1 N - - PJA1 Glu418Asp E418D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PJA1 Glu551Asp E551D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PJA1 Glu606Asp E606D not reviewed Insufficiently evaluated not reviewed unknown Array rs11539157 1437 8761 0.164022 10 0 17 0 0 - - - - - - - - - - - - - - - - 0.166 - - -2 - 0 N - - PJA1 Ser244Asn S244N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PJA1 Ser377Asn S377N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PJA1 Ser432Asn S432N not reviewed Insufficiently evaluated not reviewed unknown Array rs5937160 1578 8743 0.180487 13 0 22 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - PJA2 Ala705Thr A705T not reviewed Insufficiently evaluated not reviewed unknown Array rs246105 2272 10756 0.211231 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PJA2 Ala402Thr A402T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PJA2 Gln297Arg Q297R not reviewed Insufficiently evaluated not reviewed unknown Array rs1045706 4762 10756 0.44273 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PJA2 Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1 Ala4058Val A4058V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 5 - - PKD1 Ala4059Val A4059V benign Low clinical importance, Likely benign unknown Array rs3209986 610 10694 0.0570413 6 0 5 1 1 0 Y - - 5 Y - - - - - - Y - - - 0.779 Y Y 2 - 3 - 2 0 1 Probably benign. PKD1 Ile4044Val I4044V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 4 - 8 - - PKD1 Ile4045Val I4045V not reviewed Insufficiently evaluated not reviewed unknown Array rs10960 3351 10722 0.312535 20 0 25 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 2 - - PKD1 Ala3511Val A3511V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - PKD1 Ala3512Val A3512V not reviewed Insufficiently evaluated not reviewed unknown Array rs34197769 1021 10738 0.0950829 14 0 15 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 3 - 2 - - PKD1 Thr3509Met T3509M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 5 - - PKD1 Thr3510Met T3510M not reviewed Insufficiently evaluated not reviewed unknown Array rs45478794 60 10734 0.00558971 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 2 - 5 - 3 - - PKD1 Arg3183Gln R3183Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - PKD1 Phe3066Leu F3066L not reviewed Insufficiently evaluated not reviewed unknown Array rs9935834 1652 10268 0.160888 6 0 5 0 0 1 Y - - - - - - - - - - Y - - - 0.996 Y Y 0 - 4 - 1 - - PKD1 Glu2966Asp E2966D pathogenic Insufficiently evaluated pathogenic dominant Array rs13337123 583 10730 0.0543336 5 0 6 1 1 2 Y - - 0 - - - 4 Y 1 Y Y - - - 0.899 Y Y -2 - 3 N - - This variant was found in three unrelated cases of polycystic kidney disease. PKD1 Arg2732Gln R2732Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - PKD1 Arg2516His R2516H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - PKD1 Ser1679Arg S1679R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.891 Y Y 3 - 4 N - - PKD1 Ala1447Val A1447V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PKD1 Arg1351Trp R1351W benign Insufficiently evaluated benign dominant Array rs55840049 44 10724 0.00410295 1 0 1 2 2 - - - - - - - - - - - - Y - - - 0.995 Y Y 7 Y 5 - 2 - - The variant was found in 1/82 individuals with polycystic disease, but later reports declare it a benign polymorphism. PKD1 Thr938Met T938M not reviewed Insufficiently evaluated not reviewed unknown Array 724 10588 0.0683793 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.532 Y Y 2 - 2 N - - PKD1 Arg739Gln R739Q not reviewed Insufficiently evaluated not reviewed unknown Array rs40433 1490 1704 0.874413 9 0 18 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - PKD1L1 Ala2685Thr A2685T not reviewed Insufficiently evaluated not reviewed unknown Array rs13231277 1664 10758 0.154676 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - PKD1L1 Leu2603Phe L2603F not reviewed Insufficiently evaluated not reviewed unknown Array rs59848490 166 10758 0.0154304 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 3 - 2 - - PKD1L1 Arg2458Gln R2458Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73692834 1309 10748 0.12179 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 1 N - - PKD1L1 Glu2410Lys E2410K not reviewed Insufficiently evaluated not reviewed unknown Array rs2290386 1303 10758 0.121119 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.156 - - 0 - 0 N - - PKD1L1 Pro2021Leu P2021L not reviewed Insufficiently evaluated not reviewed unknown Array rs66755489 1941 10758 0.180424 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - PKD1L1 Arg1922Trp R1922W not reviewed Insufficiently evaluated not reviewed unknown Array rs76100363 1404 10758 0.130508 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PKD1L1 Thr1683Ala T1683A not reviewed Insufficiently evaluated not reviewed unknown Array rs73331766 213 10758 0.0197992 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.356 - - 1 - 1 N - - PKD1L1 Arg1347Gln R1347Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - PKD1L1 Pro1278Gln P1278Q not reviewed Insufficiently evaluated not reviewed unknown Array rs78833972 762 10758 0.070831 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 1 N - - PKD1L1 Lys1272Glu K1272E not reviewed Insufficiently evaluated not reviewed unknown Array rs1470859 9380 10758 0.871909 40 0 61 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PKD1L1 Arg1053Pro R1053P not reviewed Insufficiently evaluated not reviewed unknown Array rs10274334 5689 10758 0.528816 46 0 63 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PKD1L1 Phe988Leu F988L not reviewed Insufficiently evaluated not reviewed unknown Array rs57109564 2 10758 0.000185908 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.863 - - 0 - 2 N - - PKD1L1 Val894Ile V894I not reviewed Insufficiently evaluated not reviewed unknown Array rs56100904 1159 10758 0.107734 11 0 15 0 0 - - - - - - - - - - - - - - - - 0.109 - - -4 - 0 N - - PKD1L1 Ala824Thr A824T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PKD1L1 Asp812Asn D812N not reviewed Insufficiently evaluated not reviewed unknown Array rs17131915 198 10758 0.0184049 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - PKD1L1 Val312Phe V312F not reviewed Insufficiently evaluated not reviewed unknown Array rs2686817 5296 10758 0.492285 48 0 57 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - PKD1L2 Asp2376Gly D2376G not reviewed Insufficiently evaluated not reviewed unknown Array rs1869348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD1L2 Val2209Gly V2209G not reviewed Insufficiently evaluated not reviewed unknown Array rs4889238 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PKD1L2 Pro2139Ser P2139S not reviewed Insufficiently evaluated not reviewed unknown Array rs4889241 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L2 Thr2129Met T2129M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L2 Phe2118Leu F2118L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Ala2055Thr A2055T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Pro2046Leu P2046L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Gln2036Arg Q2036R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Met1867Val M1867V not reviewed Insufficiently evaluated not reviewed unknown Array rs12918619 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Gly1848Arg G1848R not reviewed Insufficiently evaluated not reviewed unknown Array rs4889244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKD1L2 Ala1739Val A1739V not reviewed Insufficiently evaluated not reviewed unknown Array rs35941327 1031 9986 0.103245 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PKD1L2 Gln1701His Q1701H not reviewed Insufficiently evaluated not reviewed unknown Array rs7194136 4295 9878 0.434805 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PKD1L2 Tyr1699Cys Y1699C not reviewed Insufficiently evaluated not reviewed unknown Array rs66463064 661 9892 0.0668217 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PKD1L2 Ser1665Tyr S1665Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7192948 653 10090 0.0647175 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PKD1L2 Met1645Val M1645V not reviewed Insufficiently evaluated not reviewed unknown Array rs9921748 1055 9772 0.107962 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Asp1632Gly D1632G not reviewed Insufficiently evaluated not reviewed unknown Array rs9921812 678 9676 0.0700703 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PKD1L2 Gln1616Arg Q1616R not reviewed Insufficiently evaluated not reviewed unknown Array rs9921827 1063 9708 0.109497 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Lys1575Stop K1575X not reviewed Insufficiently evaluated not reviewed unknown Array rs59980974 731 10038 0.0728233 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PKD1L2 Val1505Met V1505M not reviewed Insufficiently evaluated not reviewed unknown Array rs34444956 1051 9908 0.106076 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Thr1406Met T1406M not reviewed Insufficiently evaluated not reviewed unknown Array rs8050904 334 10412 0.0320784 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L2 Ile1331Val I1331V not reviewed Insufficiently evaluated not reviewed unknown Array rs9938333 1437 10618 0.135336 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKD1L2 Asn1330Asp N1330D not reviewed Insufficiently evaluated not reviewed unknown Array rs1453325 48 0 93 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PKD1L2 Ser1326Pro S1326P not reviewed Insufficiently evaluated not reviewed unknown Array rs1453324 8797 10600 0.829906 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PKD1L2 Gly1268Ser G1268S not reviewed Insufficiently evaluated not reviewed unknown Array rs72628271 1960 9994 0.196118 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PKD1L2 Leu1255Phe L1255F not reviewed Insufficiently evaluated not reviewed unknown Array rs59878884 580 10046 0.0577344 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Ile1114Val I1114V not reviewed Insufficiently evaluated not reviewed unknown Array rs74029003 89 10434 0.00852981 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKD1L2 Thr1048Ala T1048A not reviewed Insufficiently evaluated not reviewed unknown Array rs12931217 6862 10126 0.677661 36 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKD1L2 Met1042Val M1042V not reviewed Insufficiently evaluated not reviewed unknown Array rs12931227 2314 10224 0.22633 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Arg1040Stop R1040X not reviewed Insufficiently evaluated not reviewed unknown Array rs12925771 2206 10236 0.215514 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PKD1L2 Leu1036Pro L1036P not reviewed Insufficiently evaluated not reviewed unknown Array rs12926898 1702 10248 0.166081 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 2 - - PKD1L2 Gln999His Q999H not reviewed Insufficiently evaluated not reviewed unknown Array rs35292101 3588 10104 0.355107 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PKD1L2 Arg998Cys R998C not reviewed Insufficiently evaluated not reviewed unknown Array rs34504526 3584 10112 0.35443 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PKD1L2 Ala863Val A863V not reviewed Insufficiently evaluated not reviewed unknown Array rs12596941 1654 10182 0.162444 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PKD1L2 Gly785Cys G785C not reviewed Insufficiently evaluated not reviewed unknown Array rs9935113 1924 10226 0.188148 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKD1L2 Arg744Trp R744W not reviewed Insufficiently evaluated not reviewed unknown Array 172 9866 0.0174336 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Leu711Pro L711P not reviewed Insufficiently evaluated not reviewed unknown Array rs4889261 8007 9930 0.806344 47 0 80 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKD1L2 Arg636His R636H not reviewed Insufficiently evaluated not reviewed unknown Array rs13339342 1539 10306 0.14933 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKD1L2 Ser557Thr S557T not reviewed Insufficiently evaluated not reviewed unknown Array rs74029025 439 9650 0.0454922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKD1L2 Pro512Leu P512L not reviewed Insufficiently evaluated not reviewed unknown Array rs7205673 7552 10014 0.754144 51 0 88 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKD1L2 Ile506Val I506V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734110 558 10046 0.0555445 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKD1L2 Thr492Ala T492A not reviewed Insufficiently evaluated not reviewed unknown Array 163 10128 0.016094 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Leu462Val L462V not reviewed Insufficiently evaluated not reviewed unknown Array rs9934856 176 10072 0.0174742 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PKD1L2 Lys416Gln K416Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7194871 7791 9952 0.782858 52 0 92 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PKD1L2 Asn407Ser N407S not reviewed Insufficiently evaluated not reviewed unknown Array rs9937169 188 9944 0.0189059 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Val331Met V331M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10672 0.000749625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Val308Gly V308G not reviewed Insufficiently evaluated not reviewed unknown Array rs28689661 178 10610 0.0167766 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PKD1L2 Pro301Ala P301A not reviewed Insufficiently evaluated not reviewed unknown Array rs11150369 3443 9754 0.352983 31 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PKD1L2 Leu276Phe L276F not reviewed Insufficiently evaluated not reviewed unknown Array 68 10042 0.00677156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Glu262Asp E262D not reviewed Insufficiently evaluated not reviewed unknown Array 21 10012 0.00209748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKD1L2 Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array rs6420424 4782 10372 0.461049 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKD1L2 Asn236Ser N236S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Glu221Gly E221G not reviewed Insufficiently evaluated not reviewed unknown Array rs6564838 8039 10394 0.773427 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PKD1L2 Gln220Stop Q220X not reviewed Insufficiently evaluated not reviewed unknown Array rs7499011 2995 10392 0.288202 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PKD1L2 Gly205Arg G205R not reviewed Insufficiently evaluated not reviewed unknown Array rs34719852 500 10124 0.0493876 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKD1L2 Val183Ile V183I not reviewed Insufficiently evaluated not reviewed unknown Array rs12933806 1912 9936 0.192432 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKD1L2 Leu173Ser L173S not reviewed Insufficiently evaluated not reviewed unknown Array rs8060294 3460 9918 0.348861 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PKD1L2 Val169Met V169M not reviewed Insufficiently evaluated not reviewed unknown Array rs36099350 432 9960 0.0433735 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Cys162Ser C162S not reviewed Insufficiently evaluated not reviewed unknown Array rs35970134 487 9988 0.0487585 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L2 Val156Ile V156I not reviewed Insufficiently evaluated not reviewed unknown Array rs35528333 472 9988 0.0472567 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKD1L2 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array rs73593138 645 10382 0.0621268 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKD1L2 Gly129Asp G129D not reviewed Insufficiently evaluated not reviewed unknown Array rs7185774 2777 10308 0.269402 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PKD1L2 Gln120Leu Q120L not reviewed Insufficiently evaluated not reviewed unknown Array rs7191351 5864 10158 0.577279 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PKD1L2 Lys77Asn K77N not reviewed Insufficiently evaluated not reviewed unknown Array rs9934272 2772 10204 0.271658 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKD1L2 Trp73Arg W73R not reviewed Insufficiently evaluated not reviewed unknown Array rs9924371 6473 10212 0.633862 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKD1L2 Val20Ala V20A not reviewed Insufficiently evaluated not reviewed unknown Array rs9924530 6482 10210 0.634868 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PKD1L3 Arg1717Stop R1717X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PKD1L3 Val1571Ile V1571I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKD1L3 Ser1176Arg S1176R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L3 Val903Ile V903I not reviewed Insufficiently evaluated not reviewed unknown Array rs9921412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKD1L3 Arg789Stop R789X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PKD1L3 Thr669Ser T669S not reviewed Insufficiently evaluated not reviewed unknown Array rs35259348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKD1L3 Val593Met V593M not reviewed Insufficiently evaluated not reviewed unknown Array rs9925415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L3 His571Gln H571Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1559401 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PKD1L3 Thr429Ser T429S not reviewed Insufficiently evaluated not reviewed unknown Array rs7185272 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKD1L3 Lys274Glu K274E not reviewed Insufficiently evaluated not reviewed unknown Array rs12708923 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L3 Ser211Pro S211P not reviewed Insufficiently evaluated not reviewed unknown Array rs4788591 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L3 Ile120Phe I120F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L3 Pro26Gln P26Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD2 Arg28Pro R28P not reviewed Insufficiently evaluated not reviewed unknown Array 22 222 0.0990991 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.62 Y Y 5 Y 3 - 8 - - PKD2 Ala190Thr A190T benign Insufficiently evaluated benign dominant Array 8 2660 0.00300752 4 0 5 2 2 - - - - - - - - - - - - Y - - - 0.137 Y Y 1 - 3 - 4 - - Reported causative for polycystic kidney disease, but later reports claim that it is benign. PKD2 Ile452Val I452V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PKD2L1 Arg681Leu R681L not reviewed Insufficiently evaluated not reviewed unknown Array rs6584356 732 10758 0.0680424 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.387 - - 6 Y 0 N - - PKD2L1 Lys656Glu K656E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD2L1 Arg407Stop R407X not reviewed Insufficiently evaluated not reviewed unknown Array rs7904983 629 10758 0.0584681 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PKD2L1 Val393Ile V393I not reviewed Insufficiently evaluated not reviewed unknown Array rs2278842 1120 10758 0.104109 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.244 - - -4 - 0 N - - PKD2L1 Arg378Trp R378W not reviewed Insufficiently evaluated not reviewed unknown Array rs7909153 629 10758 0.0584681 10 0 13 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - PKD2L1 Arg278Gln R278Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17112895 542 10758 0.0503811 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.829 - - 0 - 0 N - - PKD2L2 Val404Ile V404I not reviewed Insufficiently evaluated not reviewed unknown Array rs1880458 6983 9522 0.733354 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKD2L2 Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array 38 9450 0.00402116 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD2L2 Leu507Pro L507P not reviewed Insufficiently evaluated not reviewed unknown Array rs12187140 9242 9440 0.979025 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKDREJ Val1729Ile V1729I not reviewed Insufficiently evaluated not reviewed unknown Array rs9626829 381 10758 0.0354155 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKDREJ Ile1147Met I1147M not reviewed Insufficiently evaluated not reviewed unknown Array rs36125344 1016 10758 0.0944413 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - PKDREJ Ile1099Val I1099V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKDREJ Asn1091Ser N1091S not reviewed Insufficiently evaluated not reviewed unknown Array rs6008384 3243 10758 0.30145 24 0 34 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PKDREJ Lys1052Thr K1052T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PKDREJ Lys1052Glu K1052E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKDREJ Val993Ala V993A not reviewed Insufficiently evaluated not reviewed unknown Array rs34798212 645 10758 0.0599554 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PKDREJ Thr992Pro T992P not reviewed Insufficiently evaluated not reviewed unknown Array rs7291444 2697 10758 0.250697 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - PKDREJ Thr992Ser T992S not reviewed Insufficiently evaluated not reviewed unknown Array rs7291444 10 128 0.078125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PKDREJ Leu914Pro L914P not reviewed Insufficiently evaluated not reviewed unknown Array rs6519993 3236 10758 0.300799 24 0 34 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKDREJ Asn890Ser N890S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 1 N - - PKDREJ Arg528Gln R528Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6008394 341 10758 0.0316973 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - PKDREJ His81Arg H81R not reviewed Insufficiently evaluated not reviewed unknown Array 341 2800 0.121786 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PKDREJ Val12Leu V12L not reviewed Insufficiently evaluated not reviewed unknown Array 95 1912 0.0496862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKHD1 Gln4048Arg Q4048R not reviewed Insufficiently evaluated not reviewed unknown Array rs9381994 5640 10758 0.524261 50 0 67 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 3 - - PKHD1 Val3960Ile V3960I benign Low clinical importance, Likely benign unknown Array rs34548196 138 10758 0.0128277 3 0 2 1 1 1 Y - - 4 Y - - - - - - Y - - - - Y Y -4 - 4 - 1 0 1 Probably benign, reported as a nonpathogenic polymorphism found in controls. PKHD1 Ile3905Asn I3905N benign Low clinical importance, Likely benign unknown Array rs2661488 523 10758 0.048615 5 0 4 0 0 0 Y - - 5 Y - - - - - - Y - - - - Y Y 7 Y 4 Y 0 1 Presumed benign, allele frequency contradicts severe pathogenic effect. PKHD1 Gln3899Arg Q3899R not reviewed Insufficiently evaluated not reviewed unknown Array rs4715227 5617 10758 0.522123 50 0 66 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 4 - - PKHD1 Val3837Ile V3837I not reviewed Insufficiently evaluated not reviewed unknown Array rs9474034 578 10758 0.0537275 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - PKHD1 Ser3435Asn S3435N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PKHD1 Val3193Ile V3193I not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - PKHD1 Ala2579Val A2579V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PKHD1 Leu1870Val L1870V not reviewed Insufficiently evaluated not reviewed unknown Array rs2435322 10246 10758 0.952408 55 0 108 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - PKHD1 Ala1262Val A1262V not reviewed Insufficiently evaluated not reviewed unknown Array rs9296669 4184 10758 0.38892 34 0 45 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 2 - - PKHD1 Asn830Ser N830S not reviewed Insufficiently evaluated not reviewed unknown Array rs62406032 533 10758 0.0495445 6 0 6 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 5 - - PKHD1 Arg760Cys R760C not reviewed Insufficiently evaluated not reviewed unknown Array rs9370096 4156 10758 0.386317 33 0 44 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 1 - - PKHD1 Ser647Arg S647R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PKHD1 Lys626Arg K626R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - PKHD1L1 Trp373Cys W373C not reviewed Insufficiently evaluated not reviewed unknown Array rs16879428 117 9696 0.0120668 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - PKHD1L1 Tyr440His Y440H not reviewed Insufficiently evaluated not reviewed unknown Array rs964307 2611 9504 0.274726 32 0 40 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 1 N - - PKHD1L1 His923Arg H923R not reviewed Insufficiently evaluated not reviewed unknown Array rs4735133 5695 9538 0.597085 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKHD1L1 Tyr943His Y943H not reviewed Insufficiently evaluated not reviewed unknown Array rs16879534 865 9496 0.091091 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PKHD1L1 Ala957Glu A957E not reviewed Insufficiently evaluated not reviewed unknown Array rs35375999 119 10022 0.0118739 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 1 - - PKHD1L1 Thr1192Ala T1192A not reviewed Insufficiently evaluated not reviewed unknown Array rs10093885 2333 9616 0.242616 27 0 30 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PKHD1L1 Pro1430Leu P1430L not reviewed Insufficiently evaluated not reviewed unknown Array 32 9650 0.00331606 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 7 Y 2 N - - PKHD1L1 Arg1514Ser R1514S not reviewed Insufficiently evaluated not reviewed unknown Array rs1673408 5262 9748 0.539803 48 0 67 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PKHD1L1 Val1607Ile V1607I not reviewed Insufficiently evaluated not reviewed unknown Array rs73700891 159 9610 0.0165453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - PKHD1L1 Tyr1638Cys Y1638C not reviewed Insufficiently evaluated not reviewed unknown Array rs72687015 2041 9868 0.20683 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.467 - - 6 Y 0 N - - PKHD1L1 Val1965Leu V1965L not reviewed Insufficiently evaluated not reviewed unknown Array rs1673407 6049 10220 0.591879 49 0 77 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PKHD1L1 Ala2086Thr A2086T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKHD1L1 His3050Gln H3050Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1783147 3414 9562 0.357038 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PKHD1L1 Val3080Ile V3080I not reviewed Insufficiently evaluated not reviewed unknown Array rs10441509 448 9508 0.0471182 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.399 - - -4 - 1 N - - PKHD1L1 Ile3411Val I3411V not reviewed Insufficiently evaluated not reviewed unknown Array rs16879659 430 9394 0.0457739 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.98 - - -4 - 2 N - - PKHD1L1 Asp3607Glu D3607E not reviewed Insufficiently evaluated not reviewed unknown Array rs9774677 497 9614 0.0516954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 1 - - PKHD1L1 Leu3862Phe L3862F not reviewed Insufficiently evaluated not reviewed unknown Array rs16879693 276 9496 0.0290649 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKHD1L1 Val4220Ile V4220I not reviewed Insufficiently evaluated not reviewed unknown Array rs1783174 2090 10086 0.207218 34 0 48 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - PKLR Leu230Phe L230F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PKLR Leu261Phe L261F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 0 - 1 N - - PKN1 Gly539Arg G539R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKN1 Gly545Arg G545R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKN1 Ile718Val I718V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKN1 Ile724Val I724V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230539 1673 10276 0.162807 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKN1 Val901Ile V901I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKN1 Val907Ile V907I not reviewed Insufficiently evaluated not reviewed unknown Array rs10846 842 10554 0.0797802 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKN2 Ile85Val I85V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PKN2 Gln655Arg Q655R not reviewed Insufficiently evaluated not reviewed unknown Array 74 9436 0.00784231 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 1 - 4 - - PKN3 Asp337His D337H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PKN3 Gly450Ser G450S not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKNOX2 Glu454Lys E454K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - PKP1 Ile196Val I196V not reviewed Insufficiently evaluated not reviewed unknown Array rs35507614 1265 10758 0.117587 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PKP1 Arg202His R202H not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - PKP1 Gly415Asp G415D not reviewed Insufficiently evaluated not reviewed unknown Array rs1626370 17 128 0.132812 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.239 - - 4 Y 0 N - - PKP1 Ala442Val A442V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - PKP1 Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array rs10920171 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.688 - - 2 - 2 - 3 - - PKP1 Arg445Cys R445C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PKP1 Arg466Cys R466C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 8 Y 0 N - - PKP1 Cys446Arg C446R not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PKP1 Cys467Arg C467R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - PKP2 Phe376Ser F376S not reviewed Insufficiently evaluated not reviewed unknown Array rs56869013 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PKP2 Leu366Pro L366P benign Low clinical importance, Uncertain benign unknown Array rs1046116 2380 10758 0.221231 18 0 19 1 1 1 Y 0 - 0 - 0 - - - - - Y - - - - Y Y 7 Y 3 Y 0 0 This variant is a benign polymorphism. PKP2 Ala264Val A264V not reviewed Insufficiently evaluated not reviewed unknown Array rs62001016 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PKP2 His180Tyr H180Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PKP2 His180Asn H180N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PKP2 Ser70Ile S70I not reviewed Insufficiently evaluated not reviewed unknown Array 194 10278 0.0188753 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 3 - - PKP2 Asp26Asn D26N benign Low clinical importance, Likely benign undefined Array 50 10296 0.00485625 1 0 1 2 2 2 Y - - 5 Y - - - - - - Y - - - - Y Y -1 - Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos 1 21 10 353 1.681 4 - 9 0 1 Probably benign. This variant has been classified as a rare polymorphism, although other variants in this gene have been implicated in causing autosomal dominant arrhythmogenic right ventricular dysplasia (which can cause sudden death at an early age). PKP3 Gly139Glu G139E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 1 N - - PKP3 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array rs73400573 206 10576 0.0194781 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PKP3 Pro188Thr P188T not reviewed Insufficiently evaluated not reviewed unknown Array 167 10620 0.015725 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKP3 Arg755Gln R755Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10702 0.00196225 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.584 - - 0 - 1 N - - PLA1A Ser23Ile S23I not reviewed Insufficiently evaluated not reviewed unknown Array rs11929241 305 10758 0.028351 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLA1A Gly172Arg G172R not reviewed Insufficiently evaluated not reviewed unknown Array rs57578038 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - 6 Y 0 N - - PLA1A Asn222Thr N222T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PLA1A Ser284Asn S284N not reviewed Insufficiently evaluated not reviewed unknown Array rs2692622 505 10758 0.0469418 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - PLA1A Lys452Glu K452E not reviewed Insufficiently evaluated not reviewed unknown Array rs72957048 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - PLA2G12A Cys131Arg C131R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PLA2G2C Gln140Arg Q140R not reviewed Insufficiently evaluated not reviewed unknown Array rs6426616 6446 10080 0.639484 50 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLA2G2C Arg36Stop R36X not reviewed Insufficiently evaluated not reviewed unknown Array rs12139100 1981 9970 0.198696 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PLA2G2D Ser91Pro S91P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - PLA2G2D Ser80Gly S80G not reviewed Insufficiently evaluated not reviewed unknown Array rs584367 7477 10758 0.695018 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLA2G2E Arg118His R118H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729970 965 10758 0.0897007 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PLA2G3 Arg378Gln R378Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2232183 2173 10728 0.202554 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PLA2G3 Ser322Arg S322R not reviewed Insufficiently evaluated not reviewed unknown Array rs2072193 583 10758 0.0541922 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - PLA2G3 Glu251Lys E251K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - PLA2G3 Leu157Val L157V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074735 610 10758 0.056702 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 1 N - - PLA2G3 Glu116Gln E116Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2074734 799 10758 0.0742703 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - PLA2G3 Ser70Ala S70A not reviewed Insufficiently evaluated not reviewed unknown Array rs2232176 8051 10758 0.748373 51 0 84 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLA2G4A Ile637Val I637V not reviewed Insufficiently evaluated not reviewed unknown Array rs28395831 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PLA2G4A Arg651Lys R651K not reviewed Insufficiently evaluated not reviewed unknown Array rs2307198 10601 10758 0.985406 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PLA2G4B Arg191Cys R191C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLA2G4C Thr360Pro T360P not reviewed Insufficiently evaluated not reviewed unknown Array rs11564620 1533 10758 0.142499 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PLA2G4C Thr370Pro T370P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLA2G4C Ser203Pro S203P not reviewed Insufficiently evaluated not reviewed unknown Array rs156631 5294 10758 0.492099 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLA2G4C Ser213Pro S213P not reviewed Insufficiently evaluated not reviewed unknown Array rs156631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLA2G4C Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array rs11564538 512 10758 0.0475925 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - PLA2G4C Pro161Leu P161L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - PLA2G4C Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303744 2961 10758 0.275237 30 0 43 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLA2G4C Ile153Val I153V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLA2G4C Ala38Pro A38P not reviewed Insufficiently evaluated not reviewed unknown Array rs2307279 2100 10758 0.195204 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLA2G4C Ala48Pro A48P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLA2G4C Glu21Lys E21K not reviewed Insufficiently evaluated not reviewed unknown Array rs11564522 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PLA2G4C Glu31Lys E31K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PLA2G4D Arg807Gln R807Q not reviewed Insufficiently evaluated not reviewed unknown Array rs750051 960 10758 0.0892359 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 1 N - - PLA2G4D Arg783Gln R783Q not reviewed Insufficiently evaluated not reviewed unknown Array rs750052 967 10758 0.0898866 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PLA2G4D Ala649Gly A649G not reviewed Insufficiently evaluated not reviewed unknown Array rs17690899 904 10756 0.0840461 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLA2G4D Lys639Gln K639Q not reviewed Insufficiently evaluated not reviewed unknown Array 844 10758 0.0784532 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLA2G4D Tyr627Cys Y627C not reviewed Insufficiently evaluated not reviewed unknown Array 944 10756 0.087765 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLA2G4D Arg601His R601H not reviewed Insufficiently evaluated not reviewed unknown Array 960 10754 0.0892691 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PLA2G4D Arg573Trp R573W not reviewed Insufficiently evaluated not reviewed unknown Array rs17747505 969 10756 0.0900893 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PLA2G4D Gly489Cys G489C not reviewed Insufficiently evaluated not reviewed unknown Array rs72489212 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - PLA2G4D Ser434Thr S434T not reviewed Insufficiently evaluated not reviewed unknown Array rs4924618 3151 10750 0.293116 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - PLA2G4D Arg333Trp R333W not reviewed Insufficiently evaluated not reviewed unknown Array rs56985825 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - PLA2G4D Pro275Arg P275R not reviewed Insufficiently evaluated not reviewed unknown Array rs11635685 3074 10758 0.285741 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PLA2G4D Ser52Leu S52L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - PLA2G4D Pro10Thr P10T not reviewed Insufficiently evaluated not reviewed unknown Array 918 10758 0.0853318 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.11 - - 4 Y 0 N - - PLA2G4E Asp583Asn D583N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLA2G4E Asn371Ser N371S not reviewed Insufficiently evaluated not reviewed unknown Array rs4924595 447 10210 0.0437806 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PLA2G4E Lys263Asn K263N not reviewed Insufficiently evaluated not reviewed unknown Array rs59786885 152 9834 0.0154566 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4E Lys262Glu K262E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLA2G4E His184Tyr H184Y not reviewed Insufficiently evaluated not reviewed unknown Array rs59021651 144 9932 0.0144986 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLA2G4E Cys5Arg C5R not reviewed Insufficiently evaluated not reviewed unknown Array rs9920802 3448 9690 0.355831 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PLA2G4F Pro799Arg P799R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 2 N - - PLA2G4F His773Tyr H773Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.372 - - -1 - 1 N - - PLA2G4F Met740Val M740V not reviewed Insufficiently evaluated not reviewed unknown Array rs1356410 7801 10758 0.725135 55 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLA2G4F Leu252Val L252V not reviewed Insufficiently evaluated not reviewed unknown Array rs73403546 1767 10758 0.16425 16 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLA2G4F Gly30Val G30V not reviewed Insufficiently evaluated not reviewed unknown Array rs636604 477 10704 0.0445628 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.127 - - 8 Y 0 N - - PLA2G7 Val379Ala V379A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051931 8426 10758 0.783231 51 0 82 0 0 - - - - - - - - - - - - - - - - 0.816 - - 2 - 0 N - - PLA2G7 Val279Phe V279F pathogenic Insufficiently evaluated pathogenic recessive Array rs16874954 3 128 0.0234375 2 0 3 4 4 3 Y 1 Y 5 Y 3 Y 1 Y 0 Y - Y - - 0.975 - - 3 - 4 N - - This variant causes PAF acetylhydrolase deficiency and affects 4% of Japanese. It is associated with heightened risk of stroke and asthma and lower risk for cardiovascular disease. PLA2G7 Ile198Thr I198T not reviewed Insufficiently evaluated not reviewed unknown Array rs1805018 1135 10758 0.105503 19 0 23 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 3 - 2 N - - PLA2G7 Lys191Asn K191N not reviewed Insufficiently evaluated not reviewed unknown Array rs45454695 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - PLA2G7 Arg92His R92H not reviewed Insufficiently evaluated not reviewed unknown Array rs1805017 2871 10758 0.266871 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLA2R1 Ser1337Leu S1337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - PLA2R1 Gln1336His Q1336H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.786 - - -1 - 1 N - - PLA2R1 Gly1106Ser G1106S not reviewed Insufficiently evaluated not reviewed unknown Array rs3828323 3824 10758 0.355456 23 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLA2R1 Ala370Glu A370E not reviewed Insufficiently evaluated not reviewed unknown Array rs34916310 56 10758 0.00520543 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 1 - 2 - - PLA2R1 His300Asp H300D not reviewed Insufficiently evaluated not reviewed unknown Array rs35771982 3807 10758 0.353876 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLA2R1 Met292Val M292V not reviewed Insufficiently evaluated not reviewed unknown Array rs3749117 3892 10758 0.361777 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.291 - - 0 - 0 N - - PLAC1L Gly16Ser G16S not reviewed Insufficiently evaluated not reviewed unknown Array 367 10758 0.0341141 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PLAC4 Gln142His Q142H not reviewed Insufficiently evaluated not reviewed unknown Array 2261 10510 0.215128 15 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLAC4 His98Gln H98Q not reviewed Insufficiently evaluated not reviewed unknown Array 1519 10640 0.142763 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLAC8L1 Thr172Ala T172A not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - PLAC8L1 Ser29Thr S29T not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - PLAC8L1 Cys11Ser C11S not reviewed Insufficiently evaluated not reviewed unknown Array rs12187913 2169 10756 0.201655 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLAG1 Pro376Thr P376T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLAG1 Pro458Thr P458T not reviewed Insufficiently evaluated not reviewed unknown Array rs35883156 1429 10758 0.132831 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - PLAG1 Lys11Met K11M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLAG1 Lys93Met K93M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.441 - - 4 Y 1 N - - PLAGL1 Thr175Ala T175A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLAGL1 Thr227Ala T227A not reviewed Insufficiently evaluated not reviewed unknown Array rs17847328 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLAGL1 Ala141Ser A141S not reviewed Insufficiently evaluated not reviewed unknown Array rs17847327 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLAGL1 Ala89Ser A89S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLAT Arg515Stop R515X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - PLAT Arg561Stop R561X not reviewed Insufficiently evaluated not reviewed unknown Array rs1804182 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - PLAT Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - PLAT Ala195Val A195V not reviewed Insufficiently evaluated not reviewed unknown Array rs61231575 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.216 - - 2 - 2 - 1 - - PLAU Val15Leu V15L not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - PLAU Leu124Pro L124P not reviewed Insufficiently evaluated not reviewed unknown Array rs2227564 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLAU Leu141Pro L141P not reviewed Insufficiently evaluated not reviewed unknown Array rs2227564 9056 10758 0.841792 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PLAU Lys214Gln K214Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLAU Lys231Gln K231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2227567 553 10758 0.0514036 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLAU Arg265His R265H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PLAU Arg282His R282H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PLAUR Leu272Pro L272P not reviewed Insufficiently evaluated not reviewed unknown Array rs4760 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLAUR Leu317Pro L317P not reviewed Insufficiently evaluated not reviewed unknown Array rs4760 1163 10758 0.108106 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.26 - - 7 Y 0 N - - PLAUR Lys175Arg K175R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLAUR Lys220Arg K220R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302524 1916 10758 0.1781 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.035 - - -3 - 0 N - - PLAUR Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array rs399145 386 10758 0.0358803 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.146 - - 1 - 1 - 10 - - PLB1 Val149Leu V149L not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PLB1 Val212Leu V212L not reviewed Insufficiently evaluated not reviewed unknown Array rs6753929 2301 10758 0.213887 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.951 - - 0 - 1 N - - PLB1 Met331Ile M331I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 1 - 1 - - PLB1 Tyr340Cys Y340C not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PLB1 Arg445Gln R445Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PLB1 Val559Ile V559I not reviewed Insufficiently evaluated not reviewed unknown Array rs72863353 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - PLB1 Phe656Ser F656S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - PLB1 Thr680Met T680M not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.974 - - 2 - 2 N - - PLB1 Asn687Lys N687K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PLB1 Gln698His Q698H not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.243 - - -1 - 1 N - - PLB1 Met708Val M708V not reviewed Insufficiently evaluated not reviewed unknown Array rs11681826 2672 10758 0.248373 27 0 29 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PLB1 His879Asp H879D not reviewed Insufficiently evaluated not reviewed unknown Array rs7601771 6175 10758 0.573991 54 0 82 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLB1 Arg882Cys R882C not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - PLB1 Arg882His R882H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PLB1 Asn904Tyr N904Y not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 5 Y 2 N - - PLB1 Ala987Val A987V not reviewed Insufficiently evaluated not reviewed unknown Array rs34289907 880 10758 0.0817996 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.131 - - 2 - 0 N - - PLB1 Ala1257Val A1257V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PLB1 Ala1318Val A1318V not reviewed Insufficiently evaluated not reviewed unknown Array rs2199619 2709 10758 0.251813 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 1 N - - PLB1 Pro1323Thr P1323T not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - PLB1 Gln1326His Q1326H not reviewed Insufficiently evaluated not reviewed unknown Array rs73924323 82 10758 0.00762223 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - PLBD1 Pro534Ala P534A not reviewed Insufficiently evaluated not reviewed unknown Array rs1600 5660 10758 0.52612 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLBD1 Val377Ala V377A not reviewed Insufficiently evaluated not reviewed unknown Array rs2287541 576 10758 0.0535415 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLBD1 Val265Ile V265I not reviewed Insufficiently evaluated not reviewed unknown Array rs7957558 9499 10758 0.882971 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLBD1 Pro26Gln P26Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1141509 354 3548 0.0997745 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PLBD2 Gln54Pro Q54P not reviewed Insufficiently evaluated not reviewed unknown Array rs7965471 5962 9246 0.644819 35 0 56 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PLBD2 Arg354Cys R354C not reviewed Insufficiently evaluated not reviewed unknown Array rs56935204 13 10758 0.0012084 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PLBD2 Arg492Cys R492C not reviewed Insufficiently evaluated not reviewed unknown Array rs12425042 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLBD2 Arg524Cys R524C not reviewed Insufficiently evaluated not reviewed unknown Array rs12425042 1287 10758 0.119632 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.746 - - 8 Y 0 N - - PLCB1 Ile1039Thr I1039T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PLCB2 Glu1095Gly E1095G not reviewed Insufficiently evaluated not reviewed unknown Array rs936212 38 10016 0.00379393 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCB2 Thr471Ile T471I not reviewed Insufficiently evaluated not reviewed unknown Array 17 9796 0.0017354 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCB2 Phe336Ile F336I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCB2 Asn86Lys N86K not reviewed Insufficiently evaluated not reviewed unknown Array rs57020474 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCB3 Arg483His R483H not reviewed Insufficiently evaluated not reviewed unknown Array rs12146487 1330 10710 0.124183 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - PLCB3 Ser845Leu S845L not reviewed Insufficiently evaluated not reviewed unknown Array rs35169799 523 10758 0.048615 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.068 - - 6 Y 0 N - - PLCB3 Val949Met V949M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10516 0.00256752 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - PLCB3 Gly1013Val G1013V not reviewed Insufficiently evaluated not reviewed unknown Array rs61757725 26 10756 0.00241725 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLCB4 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array rs6077510 5509 10752 0.51237 37 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLCB4 Arg894Lys R894K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLCD1 Arg257His R257H not reviewed Insufficiently evaluated not reviewed unknown Array rs933135 4 124 0.0322581 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCD1 Arg278His R278H not reviewed Insufficiently evaluated not reviewed unknown Array 131 10754 0.0121815 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCD1 Asp231Asn D231N not reviewed Insufficiently evaluated not reviewed unknown Array rs61755441 7 128 0.0546875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLCD1 Asp252Asn D252N not reviewed Insufficiently evaluated not reviewed unknown Array 573 10758 0.0532627 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLCD3 Ala715Thr A715T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCD3 Ala327Val A327V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10442 0.00354338 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCE1 Arg548Leu R548L not reviewed Insufficiently evaluated not reviewed unknown Array rs17417407 1735 10184 0.170365 20 0 21 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 3 - 1 - - PLCE1 Ala643Ser A643S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10414 0.00144037 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.715 Y - -1 - 2 N - - PLCE1 Lys895Asn K895N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.105 Y - 1 - 1 N - - PLCE1 Arg1575Pro R1575P not reviewed Insufficiently evaluated not reviewed unknown Array rs2274224 4621 9714 0.475705 46 0 61 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 - 1 - - PLCE1 Thr1777Ile T1777I not reviewed Insufficiently evaluated not reviewed unknown Array rs3765524 3246 10098 0.32145 40 0 46 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 2 - - PLCE1 Pro1890Leu P1890L not reviewed Insufficiently evaluated not reviewed unknown Array rs58539480 134 10090 0.0132805 4 0 4 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - PLCE1 His1927Arg H1927R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274223 3214 10106 0.318029 37 0 45 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 2 - 1 - - PLCG1 Ile813Thr I813T not reviewed Insufficiently evaluated not reviewed unknown Array rs753381 7248 10758 0.673731 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLCG1 Gly874Glu G874E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCG2 Met28Leu M28L not reviewed Insufficiently evaluated not reviewed unknown Array 105 10134 0.0103612 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 2 N - - PLCG2 Arg268Trp R268W not reviewed Insufficiently evaluated not reviewed unknown Array rs17537869 493 10088 0.0488699 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - PLCG2 Pro522Arg P522R not reviewed Insufficiently evaluated not reviewed unknown Array rs72824905 61 9736 0.00626541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - PLCG2 Val934Ile V934I not reviewed Insufficiently evaluated not reviewed unknown Array rs73598710 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - PLCG2 Phe1028Val F1028V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PLCH1 Val1566Phe V1566F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCH1 Val1604Phe V1604F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - PLCH1 Met1198Val M1198V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCH1 Met1236Val M1236V not reviewed Insufficiently evaluated not reviewed unknown Array 265 10758 0.0246328 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - PLCH1 Asp1055Asn D1055N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLCH1 Asp1093Asn D1093N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PLCH2 Gly28Ala G28A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCL1 Val569Ile V569I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 2 N - - PLCL1 Val667Ile V667I not reviewed Insufficiently evaluated not reviewed unknown Array rs1064213 4540 10754 0.422168 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.974 Y - -4 - 2 N - - PLCL1 Tyr725Phe Y725F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 2 N - - PLCL1 Tyr823Phe Y823F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.214 Y - -4 - 2 N - - PLCL2 Val17Ala V17A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCL2 Thr29Ala T29A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCL2 Ser31Ala S31A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLCL2 Ser37Ala S37A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLCL2 Glu881Gly E881G not reviewed Insufficiently evaluated not reviewed unknown Array rs4602367 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCL2 Asn1121Lys N1121K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCXD1 Gly305Val G305V not reviewed Insufficiently evaluated not reviewed unknown Array 672 10750 0.0625116 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.941 - - 8 Y 1 N - - PLCXD2 Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array rs61756476 7 10758 0.000650678 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PLCXD2 Cys215Arg C215R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - 8 Y 2 N - - PLCXD2 Thr336Ile T336I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCZ1 Ser500Leu S500L not reviewed Insufficiently evaluated not reviewed unknown Array rs10505830 396 10754 0.0368235 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 5 - - PLCZ1 Leu174Phe L174F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PLD1 Thr952Ala T952A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PLD1 Thr990Ala T990A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.092 - - 1 - 0 N - - PLD1 Val782Met V782M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PLD1 Val820Met V820M not reviewed Insufficiently evaluated not reviewed unknown Array rs2287579 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 0 - 1 - 2 - - PLD1 Ala622Ser A622S not reviewed Insufficiently evaluated not reviewed unknown Array rs2290480 1921 10758 0.178565 21 0 25 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 - 2 - - PLD2 Arg172Cys R172C not reviewed Insufficiently evaluated not reviewed unknown Array rs2286672 594 10758 0.0552147 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PLD2 Thr577Ile T577I not reviewed Insufficiently evaluated not reviewed unknown Array rs1052748 4039 10758 0.375442 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLD2 Glu632Gly E632G not reviewed Insufficiently evaluated not reviewed unknown Array rs17854914 1115 10758 0.103644 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 0 N - - PLD2 Gly821Ser G821S not reviewed Insufficiently evaluated not reviewed unknown Array rs3764897 2132 10758 0.198178 17 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLD2 Pro837Leu P837L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - PLD2 Asn867Ser N867S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 1 - - PLD3 Arg267Trp R267W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PLD4 Cys16Arg C16R not reviewed Insufficiently evaluated not reviewed unknown Array rs894037 258 9918 0.0260133 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 3 - 1 - - PLD4 Glu27Gln E27Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2841280 3530 9546 0.369788 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - PLD4 Gly368Ser G368S not reviewed Insufficiently evaluated not reviewed unknown Array 214 10138 0.0211087 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC1 Met3997Ile M3997I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Met4007Ile M4007I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Met4015Ile M4015I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Met4029Ile M4029I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Met4033Ile M4033I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Met4056Ile M4056I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Met4166Ile M4166I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PLEC1 Asp3835His D3835H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Asp3845His D3845H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Asp3853His D3853H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Asp3867His D3867H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Asp3871His D3871H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Asp3894His D3894H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Asp4004His D4004H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Gly3738Ser G3738S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Gly3748Ser G3748S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Gly3756Ser G3756S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Gly3770Ser G3770S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Gly3774Ser G3774S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Gly3797Ser G3797S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Gly3907Ser G3907S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Pro3704Leu P3704L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Pro3714Leu P3714L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Pro3722Leu P3722L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Pro3736Leu P3736L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Pro3740Leu P3740L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Pro3763Leu P3763L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Pro3873Leu P3873L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEC1 Gly3289Arg G3289R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Gly3299Arg G3299R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Gly3307Arg G3307R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Gly3321Arg G3321R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Gly3325Arg G3325R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Gly3348Arg G3348R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Gly3458Arg G3458R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PLEC1 Ala3002Val A3002V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala3012Val A3012V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala3020Val A3020V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala3034Val A3034V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala3038Val A3038V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala3061Val A3061V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala3171Val A3171V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Val2993Ile V2993I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Val3003Ile V3003I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Val3011Ile V3011I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Val3025Ile V3025I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Val3029Ile V3029I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Val3052Ile V3052I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Val3162Ile V3162I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLEC1 Asp2908Glu D2908E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Asp2918Glu D2918E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Asp2926Glu D2926E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Asp2940Glu D2940E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Asp2944Glu D2944E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Asp2967Glu D2967E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Asp3077Glu D3077E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PLEC1 Arg2800His R2800H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2810His R2810H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2818His R2818H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2832His R2832H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2836His R2836H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2859His R2859H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2969His R2969H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg2639Gln R2639Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg2649Gln R2649Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg2657Gln R2657Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg2671Gln R2671Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg2675Gln R2675Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg2698Gln R2698Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg2808Gln R2808Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Ser2622Pro S2622P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Ser2632Pro S2632P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Ser2640Pro S2640P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Ser2654Pro S2654P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Ser2658Pro S2658P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Ser2681Pro S2681P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Ser2791Pro S2791P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Val2534Met V2534M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Val2544Met V2544M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Val2552Met V2552M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Val2566Met V2566M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Val2570Met V2570M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Val2593Met V2593M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Val2703Met V2703M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Ala2073Val A2073V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2083Val A2083V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2091Val A2091V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2105Val A2105V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2109Val A2109V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2132Val A2132V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2242Val A2242V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2025Val A2025V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2035Val A2035V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2043Val A2043V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2057Val A2057V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2061Val A2061V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2084Val A2084V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala2194Val A2194V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 His1290Arg H1290R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 His1300Arg H1300R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 His1308Arg H1308R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 His1322Arg H1322R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 His1326Arg H1326R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 His1349Arg H1349R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 His1459Arg H1459R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Arg1217Gln R1217Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg1227Gln R1227Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg1235Gln R1235Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg1249Gln R1249Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg1253Gln R1253Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg1276Gln R1276Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Arg1386Gln R1386Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Ala818Thr A818T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala828Thr A828T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala836Thr A836T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala850Thr A850T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala854Thr A854T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala877Thr A877T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala987Thr A987T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala472Val A472V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala482Val A482V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala504Val A504V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala508Val A508V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala531Val A531V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Ala641Val A641V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEK Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array rs17035364 565 10758 0.0525191 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 10 - - PLEK Lys97Asn K97N not reviewed Insufficiently evaluated not reviewed unknown Array rs3816281 2891 10758 0.26873 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLEK Arg340Lys R340K not reviewed Insufficiently evaluated not reviewed unknown Array rs1063479 8515 10758 0.791504 50 0 90 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PLEK2 Ser217Cys S217C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 2 N - - PLEK2 Arg205His R205H not reviewed Insufficiently evaluated not reviewed unknown Array rs57113671 22 10758 0.00204499 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PLEKHA1 Thr320Ala T320A not reviewed Insufficiently evaluated not reviewed unknown Array rs1045216 7208 10758 0.670013 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLEKHA4 Gly749Val G749V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEKHA4 Gly742Val G742V not reviewed Insufficiently evaluated not reviewed unknown Array rs35965411 785 10726 0.0731867 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.894 - - 8 Y 1 N - - PLEKHA4 Thr714Ala T714A not reviewed Insufficiently evaluated not reviewed unknown Array rs34460869 814 10754 0.0756928 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - PLEKHA4 Ile37Val I37V not reviewed Insufficiently evaluated not reviewed unknown Array rs506425 5056 10758 0.469976 33 0 47 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLEKHA5 Asp4Asn D4N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - PLEKHA5 Thr1033Pro T1033P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHA5 Thr1044Pro T1044P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHA6 Arg837Lys R837K not reviewed Insufficiently evaluated not reviewed unknown Array rs10900562 5660 10734 0.527296 45 0 63 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PLEKHA6 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array rs10900571 6587 10758 0.612289 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLEKHA7 Ser689Arg S689R not reviewed Insufficiently evaluated not reviewed unknown Array rs61133161 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 3 - 2 - - PLEKHA7 Arg346His R346H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHA7 Arg315Trp R315W not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.771 - - 7 Y 1 N - - PLEKHA7 Gln279Arg Q279R not reviewed Insufficiently evaluated not reviewed unknown Array rs369819 135 10758 0.0125488 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.222 - - 0 - 1 N - - PLEKHA7 Ala248Val A248V not reviewed Insufficiently evaluated not reviewed unknown Array rs16933529 745 10758 0.0692508 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLEKHA9 Asp360His D360H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHA9 Asp360Asn D360N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEKHA9 Ser204Asn S204N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHA9 Leu38Ser L38S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHG1 Pro72Ser P72S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - PLEKHG1 Ala715Thr A715T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG1 Val1071Ala V1071A not reviewed Insufficiently evaluated not reviewed unknown Array rs17080410 380 10758 0.0353226 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - PLEKHG1 Gly1081Glu G1081E not reviewed Insufficiently evaluated not reviewed unknown Array rs61742396 378 10758 0.0351366 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHG1 Leu1321Ser L1321S not reviewed Insufficiently evaluated not reviewed unknown Array rs17054318 379 10758 0.0352296 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - PLEKHG1 Gln1377Pro Q1377P not reviewed Insufficiently evaluated not reviewed unknown Array rs58786678 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 3 - 2 - - PLEKHG2 Thr540Ile T540I not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 1 - 3 - - PLEKHG2 Ile622Val I622V not reviewed Insufficiently evaluated not reviewed unknown Array rs16973407 776 10758 0.0721324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLEKHG2 Arg647His R647H not reviewed Insufficiently evaluated not reviewed unknown Array rs10407035 1554 10758 0.144451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PLEKHG2 Pro675Leu P675L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - PLEKHG2 Arg992Lys R992K not reviewed Insufficiently evaluated not reviewed unknown Array rs31726 5656 10758 0.525748 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.474 - - -3 - 0 N - - PLEKHG2 Ser1317Phe S1317F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - PLEKHG2 Pro1329Ala P1329A not reviewed Insufficiently evaluated not reviewed unknown Array rs31728 5607 9618 0.582969 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 1 N - - PLEKHG3 Arg390Gln R390Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG3 Arg980Trp R980W not reviewed Insufficiently evaluated not reviewed unknown Array rs229649 12 124 0.0967742 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 3 - - PLEKHG4 Met137Ile M137I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743439 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.147 Y - -1 - 1 N - - PLEKHG4 Thr331Ile T331I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PLEKHG4 Thr412Ile T412I not reviewed Insufficiently evaluated not reviewed unknown Array rs11860295 2588 10754 0.240655 21 0 33 0 0 - - - - - - - - - - - - Y - - - 0.294 Y - 3 - 1 N - - PLEKHG4 Asp444Gly D444G not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PLEKHG4 Asp525Gly D525G not reviewed Insufficiently evaluated not reviewed unknown Array rs8044843 2978 10754 0.27692 21 0 32 0 0 3 Y - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - PLEKHG4 Arg749His R749H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.39 Y - 1 - 2 N - - PLEKHG4 Arg830His R830H not reviewed Insufficiently evaluated not reviewed unknown Array rs3868142 2565 10758 0.238427 21 0 33 0 0 - - - - - - - - - - - - Y - - - 0.795 Y - 1 - 1 N - - PLEKHG4 Arg1064His R1064H not reviewed Insufficiently evaluated not reviewed unknown Array rs56077142 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 1 - 3 N - - PLEKHG4 Arg983His R983H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PLEKHG4 Ser1009Thr S1009T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PLEKHG4 Ser1090Thr S1090T not reviewed Insufficiently evaluated not reviewed unknown Array rs17680862 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.07 Y - -2 - 1 N - - PLEKHG4B Val37Ala V37A not reviewed Insufficiently evaluated not reviewed unknown Array rs12516846 1957 10446 0.187344 7 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - PLEKHG4B Ala72Thr A72T not reviewed Insufficiently evaluated not reviewed unknown Array rs12523402 674 10630 0.0634055 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 1 - 1 - - PLEKHG4B Gly131Cys G131C not reviewed Insufficiently evaluated not reviewed unknown Array rs73022563 857 10644 0.0805148 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - PLEKHG4B Gly149Ser G149S not reviewed Insufficiently evaluated not reviewed unknown Array rs11949577 2007 10752 0.186663 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLEKHG4B Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array rs13436090 2226 10746 0.207147 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.166 - - 1 - 0 N - - PLEKHG4B Ala660Val A660V not reviewed Insufficiently evaluated not reviewed unknown Array rs3810869 30 10684 0.00280794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.275 - - 2 - 2 - 1 - - PLEKHG4B Thr669Pro T669P not reviewed Insufficiently evaluated not reviewed unknown Array rs29674 10677 10682 0.999532 54 0 104 0 0 - - - - - - - - - - - - - - - - 0.257 - - 4 Y 0 N - - PLEKHG4B Arg671Gly R671G not reviewed Insufficiently evaluated not reviewed unknown Array rs3810867 4325 10684 0.404811 31 0 40 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - PLEKHG4B Arg1076Gln R1076Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4956987 4482 10758 0.41662 22 0 28 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - PLEKHG4B Arg1146Gly R1146G not reviewed Insufficiently evaluated not reviewed unknown Array rs12519352 4439 10758 0.412623 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - PLEKHG5 Met440Val M440V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG5 Met496Val M496V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740145 655 10736 0.0610097 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.795 - - 0 - 0 N - - PLEKHG5 Met517Val M517V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG5 Ala414Thr A414T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG5 Ala470Thr A470T not reviewed Insufficiently evaluated not reviewed unknown Array 721 10704 0.067358 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLEKHG5 Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG5 Ala340Val A340V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHG5 Ala396Val A396V not reviewed Insufficiently evaluated not reviewed unknown Array rs72861528 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - PLEKHG5 Ala417Val A417V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHG5 Thr238Ser T238S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEKHG5 Thr294Ser T294S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741379 2758 10182 0.27087 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLEKHG5 Thr315Ser T315S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEKHG6 Ala35Thr A35T not reviewed Insufficiently evaluated not reviewed unknown Array rs740842 6258 10758 0.581707 39 0 50 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PLEKHG7 Met212Thr M212T not reviewed Insufficiently evaluated not reviewed unknown Array rs924326 5455 10758 0.507065 51 0 76 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - PLEKHG7 Gln279Lys Q279K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - -2 - 1 N - - PLEKHG7 Gln279Arg Q279R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - PLEKHG7 Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PLEKHH1 Gln113Leu Q113L not reviewed Insufficiently evaluated not reviewed unknown Array rs3825723 1205 10172 0.118462 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 1 N - - PLEKHH1 Pro257His P257H not reviewed Insufficiently evaluated not reviewed unknown Array rs45616031 202 9872 0.0204619 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - PLEKHH1 Arg322Gln R322Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2236235 1565 9984 0.156751 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 1 N - - PLEKHH1 Thr430Ala T430A not reviewed Insufficiently evaluated not reviewed unknown Array rs3825725 2349 9898 0.237321 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PLEKHH1 His735Arg H735R not reviewed Insufficiently evaluated not reviewed unknown Array rs11158685 4691 10232 0.458464 39 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLEKHH1 Ser846Phe S846F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - PLEKHH1 Arg1348Stop R1348X not reviewed Insufficiently evaluated not reviewed unknown Array 81 9888 0.00819175 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLEKHH2 Pro481Thr P481T not reviewed Insufficiently evaluated not reviewed unknown Array rs17031297 275 10758 0.0255624 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.074 - - 4 Y 0 N - - PLEKHH2 Pro481Leu P481L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - PLEKHH2 His773Asn H773N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 0 - 1 N - - PLEKHH2 His773Arg H773R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHH2 His1056Pro H1056P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.837 - - 5 Y 1 N - - PLEKHH2 Arg1069Lys R1069K not reviewed Insufficiently evaluated not reviewed unknown Array rs2278358 1495 10758 0.138966 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - PLEKHH2 Asn1217Ser N1217S not reviewed Insufficiently evaluated not reviewed unknown Array rs17031368 884 10758 0.0821714 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.136 - - 0 - 0 N - - PLEKHH3 Gly684Ser G684S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHH3 Pro594Leu P594L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHH3 Gln547His Q547H not reviewed Insufficiently evaluated not reviewed unknown Array rs8071056 3889 3968 0.980091 17 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLEKHM1 Leu344Ile L344I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.032 Y - -2 - 1 N - - PLEKHM2 Ile32Thr I32T not reviewed Insufficiently evaluated not reviewed unknown Array rs12091750 3810 10102 0.377153 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLEKHM3 Asn532Ile N532I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - PLEKHM3 Thr256Met T256M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10034 0.00149492 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 2 - 1 N - - PLEKHM3 His182Arg H182R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.698 - - 1 - 1 N - - PLEKHN1 Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array rs28499371 92 10042 0.00916152 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.181 - - 2 - 1 - 2 - - PLEKHN1 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHN1 Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHN1 Pro384Leu P384L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10708 0.00149421 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHN1 Pro396Leu P396L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHN1 Arg391His R391H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9894 0.000101071 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PLEKHN1 Ala447Thr A447T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHN1 Ala482Thr A482T not reviewed Insufficiently evaluated not reviewed unknown Array rs56185812 256 10730 0.0238583 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHN1 Arg452Pro R452P not reviewed Insufficiently evaluated not reviewed unknown Array rs3829740 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEKHN1 Arg487Pro R487P not reviewed Insufficiently evaluated not reviewed unknown Array rs3829740 7003 10732 0.652534 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PLEKHN1 Ser476Pro S476P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHN1 Ser511Pro S511P not reviewed Insufficiently evaluated not reviewed unknown Array rs3829738 2090 10730 0.194781 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLEKHO1 Pro21Ala P21A not reviewed Insufficiently evaluated not reviewed unknown Array rs2306235 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHO1 Ile308Leu I308L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PLEKHO2 Pro290Ser P290S not reviewed Insufficiently evaluated not reviewed unknown Array rs2010875 1655 10756 0.153868 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - PLEKHO2 Gly306Ser G306S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PLEKHO2 Met346Ile M346I not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 1 N - - PLG Lys38Glu K38E not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 2 - 2 - - PLG Asp472Asn D472N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4252125 2809 10758 0.261108 19 0 20 1 1 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - PLG Ala494Val A494V not reviewed Insufficiently evaluated not reviewed unknown Array rs4252128 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.418 - - 2 - 2 - 8 - - PLIN Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN Pro194Ala P194A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLK3 Pro36His P36H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 5 Y 0 N - - PLK4 Ser232Thr S232T not reviewed Insufficiently evaluated not reviewed unknown Array rs3811740 7714 10758 0.717048 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLK4 Glu830Asp E830D not reviewed Insufficiently evaluated not reviewed unknown Array rs17012739 7717 10758 0.717327 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLOD1 Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array rs7551175 3038 10758 0.282394 21 0 28 1 1 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 4 - - PLOD1 Ala120Ser A120S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273285 1624 10758 0.150957 10 0 11 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y -1 - 2 N - - PLOD1 Thr268Ala T268A not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLOD3 Thr629Met T629M not reviewed Insufficiently evaluated not reviewed unknown Array rs74498833 98 10758 0.0091095 4 0 4 0 0 1 Y - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - PLP1 Pro176Leu P176L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLP1 Pro211Leu P211L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 5 - 1 - - PLS1 Ser216Leu S216L not reviewed Insufficiently evaluated not reviewed unknown Array rs35435507 538 10758 0.0500093 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLSCR1 His262Tyr H262Y not reviewed Insufficiently evaluated not reviewed unknown Array rs343320 610 10758 0.056702 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - PLSCR2 Arg183Ser R183S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - PLSCR3 Val293Ile V293I not reviewed Insufficiently evaluated not reviewed unknown Array rs3744549 7421 10022 0.740471 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLSCR4 Ile155Val I155V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061409 2974 10758 0.276445 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLSCR4 Asn34Ser N34S not reviewed Insufficiently evaluated not reviewed unknown Array rs3762685 3720 10758 0.345789 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLTP Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLTP Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - PLTP Ser78Pro S78P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 2 - - PLVAP Met377Leu M377L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - -3 - 0 N - - PLXDC1 Arg462His R462H not reviewed Insufficiently evaluated not reviewed unknown Array rs75117355 630 10758 0.0585611 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - PLXDC1 Asp336Tyr D336Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PLXDC2 Thr196Lys T196K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - PLXDC2 Val396Ile V396I not reviewed Insufficiently evaluated not reviewed unknown Array rs3817405 7413 10758 0.689069 48 0 70 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLXDC2 Ile458Val I458V not reviewed Insufficiently evaluated not reviewed unknown Array rs2778979 9758 10758 0.907046 53 0 94 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLXNA1 Ala706Thr A706T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNA1 Val1384Met V1384M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXNA2 Val1536Met V1536M not reviewed Insufficiently evaluated not reviewed unknown Array rs34457681 219 10758 0.0203569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXNA2 Trp845Stop W845X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLXNA2 Ala805Ser A805S not reviewed Insufficiently evaluated not reviewed unknown Array 180 10754 0.016738 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLXNA2 Glu369Gly E369G not reviewed Insufficiently evaluated not reviewed unknown Array rs4844658 1454 10758 0.135155 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLXNA2 Ala267Thr A267T not reviewed Insufficiently evaluated not reviewed unknown Array rs3748735 1731 10758 0.160904 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLXNA2 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2782948 3340 10484 0.318581 31 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLXNA3 Asp863Glu D863E not reviewed Insufficiently evaluated not reviewed unknown Array rs5945430 3272 8761 0.373473 27 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLXNA3 Val970Leu V970L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PLXNA3 Arg1266Cys R1266C not reviewed Insufficiently evaluated not reviewed unknown Array rs73573407 1 92 0.0108696 3 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PLXNA3 Gly1334Glu G1334E not reviewed Insufficiently evaluated not reviewed unknown Array 96 8750 0.0109714 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 6 Y 1 N - - PLXNA4 Val505Ile V505I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10478 0.00171789 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - PLXNA4 Gly460Asp G460D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLXNA4 Met458Ile M458I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLXNA4 Met458Val M458V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXNA4 Glu475Ala E475A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNB1 Val1487Met V1487M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PLXNB1 Val1287Gly V1287G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - PLXNB1 Ser753Leu S753L not reviewed Insufficiently evaluated not reviewed unknown Array rs35592743 171 10744 0.0159159 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 6 Y 2 - 3 - - PLXNB2 Pro1310Leu P1310L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10076 0.000496228 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 7 Y 0 N - - PLXNB2 Ile823Val I823V not reviewed Insufficiently evaluated not reviewed unknown Array rs11547731 6783 9872 0.687095 37 0 56 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 1 N - - PLXNB2 Thr812Ala T812A not reviewed Insufficiently evaluated not reviewed unknown Array 382 9838 0.038829 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 1 - 1 N - - PLXNB2 Asn759Asp N759D not reviewed Insufficiently evaluated not reviewed unknown Array 1100 9806 0.112176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.813 - - -1 - 0 N - - PLXNB2 Lys318Glu K318E not reviewed Insufficiently evaluated not reviewed unknown Array rs28379706 4494 9948 0.451749 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLXNB2 Ala220Val A220V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10496 0.00628811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.253 - - 2 - 1 N - - PLXNB2 Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNB3 Trp517Gly W517G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PLXNB3 Val598Ile V598I not reviewed Insufficiently evaluated not reviewed unknown Array rs2266879 42 92 0.456522 31 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLXNB3 Glu670Lys E670K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - PLXNB3 Glu1156Asp E1156D not reviewed Insufficiently evaluated not reviewed unknown Array rs6643791 59 75 0.786667 35 0 64 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - PLXNB3 Met1535Thr M1535T not reviewed Insufficiently evaluated not reviewed unknown Array rs5987155 50 61 0.819672 32 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLXNC1 Arg614Ser R614S not reviewed Insufficiently evaluated not reviewed unknown Array 745 10758 0.0692508 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - PLXNC1 Val1132Ile V1132I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.344 - - -4 - 1 N - - PLXND1 Ser1542Asn S1542N not reviewed Insufficiently evaluated not reviewed unknown Array rs2713625 10754 10756 0.999814 45 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLXND1 Leu1412Val L1412V not reviewed Insufficiently evaluated not reviewed unknown Array rs2625973 2807 10756 0.260971 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLXND1 His894Arg H894R not reviewed Insufficiently evaluated not reviewed unknown Array rs2625962 10521 10626 0.990119 57 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLXND1 Met870Val M870V not reviewed Insufficiently evaluated not reviewed unknown Array rs2255703 5252 10754 0.488376 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLXND1 Thr755Ala T755A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10744 0.00241996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXND1 Pro617Ser P617S not reviewed Insufficiently evaluated not reviewed unknown Array rs2285372 473 10758 0.0439673 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXND1 Gly531Ser G531S not reviewed Insufficiently evaluated not reviewed unknown Array rs2301572 616 10744 0.0573343 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLXND1 Glu501Lys E501K not reviewed Insufficiently evaluated not reviewed unknown Array rs72990040 45 10748 0.00418682 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PM20D1 Ile380Thr I380T not reviewed Insufficiently evaluated not reviewed unknown Array rs1361754 5157 10758 0.479364 32 0 41 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PM20D1 Gly346Arg G346R not reviewed Insufficiently evaluated not reviewed unknown Array rs11240573 849 10756 0.0789327 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - PM20D1 Gly287Arg G287R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.74 - - 6 Y 1 N - - PM20D1 Ile237Thr I237T not reviewed Insufficiently evaluated not reviewed unknown Array rs7518979 2236 10758 0.207845 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.908 - - 3 - 1 N - - PM20D1 Arg153Trp R153W not reviewed Insufficiently evaluated not reviewed unknown Array rs1104899 2539 10758 0.23601 25 0 27 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - PM20D1 Ile149Val I149V not reviewed Insufficiently evaluated not reviewed unknown Array rs1891460 9938 10758 0.923778 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PM20D1 His33Tyr H33Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11540014 746 10758 0.0693437 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PM20D2 His80Arg H80R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 1 - 1 N - - PMCH Arg145Met R145M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PMEPA1 Glu128Asp E128D not reviewed Insufficiently evaluated not reviewed unknown Array rs41314918 1063 10740 0.0989758 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PMEPA1 Glu78Asp E78D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PMEPA1 Glu93Asp E93D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PMEPA1 Arg25Trp R25W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PMEPA1 Arg40Trp R40W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PMEPA1 Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PMEPA1 Arg3Ser R3S not reviewed Insufficiently evaluated not reviewed unknown Array 20 9460 0.00211416 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PMF1 Gln75Arg Q75R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052053 5093 10758 0.473415 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PMF1 Met137Ile M137I not reviewed Insufficiently evaluated not reviewed unknown Array rs1052067 2555 10758 0.237498 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 1 N - - PMFBP1 Lys768Asn K768N not reviewed Insufficiently evaluated not reviewed unknown Array rs16973716 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PMFBP1 Lys913Asn K913N not reviewed Insufficiently evaluated not reviewed unknown Array rs16973716 4987 10758 0.463562 44 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PMFBP1 Thr505Lys T505K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PMFBP1 Thr650Lys T650K not reviewed Insufficiently evaluated not reviewed unknown Array rs34832584 1279 10758 0.118888 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PMFBP1 Glu193Lys E193K not reviewed Insufficiently evaluated not reviewed unknown Array rs35370634 1274 10758 0.118423 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 1 N - - PMFBP1 Glu48Lys E48K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - PMFBP1 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array rs217180 680 10758 0.0632088 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PMFBP1 Ala27Thr A27T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PML Arg625Cys R625C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PML Arg673Cys R673C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PML Ser724Gly S724G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PML Ser772Gly S772G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PML Gly732Val G732V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PML Gly780Val G780V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PML Ala754Pro A754P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PML Ala802Pro A802P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PML Arg777His R777H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PML Arg825His R825H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - PML Phe645Leu F645L not reviewed Insufficiently evaluated not reviewed unknown Array rs5742915 3632 10758 0.337609 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PML Ala858Val A858V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PMM1 Phe181Leu F181L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMM2 Glu197Ala E197A benign Insufficiently evaluated benign dominant Array 201 10758 0.0186838 0 0 0 3 0 - - - - - - - - - - - - Y - - - 0.012 Y Y 3 - 3 - 10 - - Association with Congenital disorders of glycosylation type Ia was claimed in 2000, but reports in 2004 and 2005 claim that it is benign. PMM2 Met212Val M212V not reviewed Insufficiently evaluated not reviewed unknown Array rs3743808 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.557 Y Y 0 - 3 N - - PMM2 Asn216Ser N216S pathogenic Insufficiently evaluated pathogenic recessive Array 1 128 0.0078125 1 0 1 1 1 - - - - - - - - - - - - Y - - - 0.232 Y Y 0 - 4 - 2 - - PMP2 Ile50Thr I50T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.527 - - 3 - 1 N - - PMPCB Leu10Val L10V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMPCB Leu35Ser L35S not reviewed Insufficiently evaluated not reviewed unknown Array rs62622397 940 10758 0.0873768 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PMPCB Glu396Asp E396D not reviewed Insufficiently evaluated not reviewed unknown Array rs3087615 678 10758 0.0630229 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - PMS1 Arg147Lys R147K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PMS1 Val543Ile V543I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - PMS1 Val582Ile V582I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PMS2 Lys541Glu K541E not reviewed Insufficiently evaluated not reviewed unknown Array rs41534544 9396 10752 0.873884 54 0 96 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - PMS2 Thr511Met T511M not reviewed Insufficiently evaluated not reviewed unknown Array 293 10758 0.0272355 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - PMS2 Thr511Ala T511A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228007 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 3 - 2 - - PMS2 Thr485Lys T485K not reviewed Insufficiently evaluated not reviewed unknown Array rs1805323 359 10758 0.0333705 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 4 - - PMS2 Pro470Ser P470S benign Low clinical importance, Likely benign unknown Array rs1805321 4033 10758 0.374884 34 0 38 1 1 1 Y - - 5 Y - - - - - - Y - - - 0.006 Y Y 3 - 3 - 4 0 1 Benign, common variant. PMS2L3 Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PMS2L3 Arg23Trp R23W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - PMVK Val125Met V125M not reviewed Insufficiently evaluated not reviewed unknown Array rs16836525 753 10758 0.0699944 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PMVK Val11Ile V11I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - -4 - 2 N - - PNCK Arg306Pro R306P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PNCK Arg372Pro R372P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PNKD Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PNKD Arg152Gln R152Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73990423 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - PNKD Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PNKD Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.162 Y Y 0 - 3 - 1 - - PNKD Val169Gly V169G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PNKD Val193Gly V193G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 8 Y 4 N - - PNKP Arg513Trp R513W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PNLDC1 Glu156Ala E156A not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 1 N - - PNLDC1 Glu162Gly E162G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - PNLIP Tyr58His Y58H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.768 - - -1 - 1 N - - PNLIP Ile186Thr I186T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.359 - - 3 - 1 N - - PNLIPRP1 Asn61Asp N61D not reviewed Insufficiently evaluated not reviewed unknown Array rs11197744 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - PNLIPRP1 Gly397Ser G397S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - PNLIPRP1 Glu414Asp E414D not reviewed Insufficiently evaluated not reviewed unknown Array rs2305204 551 10758 0.0512177 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PNLIPRP1 Leu461Pro L461P not reviewed Insufficiently evaluated not reviewed unknown Array rs1049125 1507 10758 0.140082 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - PNLIPRP2 Arg51Ser R51S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNLIPRP2 Glu358Gly E358G not reviewed Insufficiently evaluated not reviewed unknown Array rs4751995 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PNLIPRP2 Gln387Arg Q387R not reviewed Insufficiently evaluated not reviewed unknown Array rs10885997 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNLIPRP3 Phe332Leu F332L not reviewed Insufficiently evaluated not reviewed unknown Array rs7077408 1558 10754 0.144876 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PNLIPRP3 Val381Ile V381I not reviewed Insufficiently evaluated not reviewed unknown Array rs10736251 10333 10758 0.960495 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PNLIPRP3 Arg382Gly R382G not reviewed Insufficiently evaluated not reviewed unknown Array rs1897519 10355 10758 0.962539 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PNLIPRP3 Phe450Tyr F450Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2116286 488 10758 0.0453616 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.744 - - -4 - 1 N - - PNMA1 Gln117His Q117H not reviewed Insufficiently evaluated not reviewed unknown Array rs35585529 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.289 - - -1 - 1 N - - PNMA2 Arg283Cys R283C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - PNMA2 Glu186Lys E186K not reviewed Insufficiently evaluated not reviewed unknown Array rs2233701 1164 10758 0.108199 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 1 N - - PNMA3 Val377Ala V377A not reviewed Insufficiently evaluated not reviewed unknown Array rs6526155 7770 8758 0.887189 52 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PNMA3 Gly382Ser G382S not reviewed Insufficiently evaluated not reviewed unknown Array rs36042591 248 8760 0.0283105 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.686 - - 2 - 2 - 2 - - PNMA6A Arg375Leu R375L not reviewed Insufficiently evaluated not reviewed unknown Array rs4828604 47 67 0.701493 25 0 47 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PNMAL1 Cys97Tyr C97Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7248888 905 10758 0.0841234 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.08 - - 6 Y 0 N - - PNMAL2 Ala599Ser A599S not reviewed Insufficiently evaluated not reviewed unknown Array 962 7794 0.123428 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 1 - - PNMAL2 Val401Ile V401I not reviewed Insufficiently evaluated not reviewed unknown Array rs3745790 1004 9832 0.102116 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.445 - - -4 - 0 N - - PNMAL2 Gly163Ser G163S not reviewed Insufficiently evaluated not reviewed unknown Array rs4803967 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 2 N - - PNN Thr441Ser T441S not reviewed Insufficiently evaluated not reviewed unknown Array rs2180792 10126 10758 0.941253 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PNN Ser671Gly S671G not reviewed Insufficiently evaluated not reviewed unknown Array rs13021 1056 10758 0.0981595 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - PNO1 Arg11Gly R11G not reviewed Insufficiently evaluated not reviewed unknown Array rs2044693 7939 10744 0.738924 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PNO1 Gly71Ala G71A not reviewed Insufficiently evaluated not reviewed unknown Array rs7590838 317 10758 0.0294664 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - PNOC Ala118Gly A118G not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 1 - 2 - - PNPLA1 Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA1 Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA1 Ala231Thr A231T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - PNPLA1 Glu193Gly E193G not reviewed Insufficiently evaluated not reviewed unknown Array rs34598813 14 128 0.109375 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PNPLA1 Glu202Gly E202G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PNPLA1 Glu288Gly E288G not reviewed Insufficiently evaluated not reviewed unknown Array rs34598813 872 10758 0.081056 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.79 - - 6 Y 0 N - - PNPLA1 Leu294Pro L294P not reviewed Insufficiently evaluated not reviewed unknown Array rs59882043 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA1 Leu303Pro L303P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA1 Leu389Pro L389P not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA1 Pro328His P328H not reviewed Insufficiently evaluated not reviewed unknown Array rs12199580 44 126 0.349206 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PNPLA1 Pro337His P337H not reviewed Insufficiently evaluated not reviewed unknown Array rs12199580 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PNPLA1 Pro423His P423H not reviewed Insufficiently evaluated not reviewed unknown Array rs12199580 3854 10758 0.358245 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - PNPLA1 Thr395Met T395M not reviewed Insufficiently evaluated not reviewed unknown Array rs12197079 28 128 0.21875 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PNPLA1 Thr404Met T404M not reviewed Insufficiently evaluated not reviewed unknown Array rs12197079 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNPLA1 Thr490Met T490M not reviewed Insufficiently evaluated not reviewed unknown Array rs12197079 3200 10758 0.297453 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PNPLA1 Ser427Pro S427P not reviewed Insufficiently evaluated not reviewed unknown Array rs4713956 77 128 0.601562 44 0 66 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PNPLA1 Ser436Pro S436P not reviewed Insufficiently evaluated not reviewed unknown Array rs4713956 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA1 Ser522Pro S522P not reviewed Insufficiently evaluated not reviewed unknown Array rs4713956 7080 10758 0.658115 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PNPLA1 Lys431Asn K431N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA1 Lys440Asn K440N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA1 Lys526Asn K526N not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - PNPLA2 Leu481Pro L481P not reviewed Insufficiently evaluated not reviewed unknown Array rs1138693 4997 7082 0.705592 33 0 48 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - PNPLA3 Cys99Gly C99G not reviewed Insufficiently evaluated not reviewed unknown Array rs2076213 854 10758 0.0793828 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PNPLA3 Gly115Cys G115C not reviewed Insufficiently evaluated not reviewed unknown Array rs2076212 1529 10758 0.142127 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PNPLA3 Ile148Met I148M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs738409 2110 10758 0.196133 24 0 27 1 1 - - - - - - - - - - - - - - - Y 0.778 - - -1 - 1 N - - PNPLA3 Pro426Leu P426L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA3 Lys434Glu K434E not reviewed Insufficiently evaluated not reviewed unknown Array rs2294918 7345 10758 0.682748 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PNPLA3 Ser453Ile S453I not reviewed Insufficiently evaluated not reviewed unknown Array rs6006460 384 10758 0.0356944 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - PNPLA3 Ser453Arg S453R not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 1 - 1 - - PNPLA5 His427Tyr H427Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - PNPLA5 Trp286Arg W286R not reviewed Insufficiently evaluated not reviewed unknown Array rs739231 3600 10758 0.334635 38 0 48 0 0 - - - - - - - - - - - - - - - - 0.01 - - 7 Y 0 N - - PNPLA5 Leu228Arg L228R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - PNPLA5 Thr218Ile T218I not reviewed Insufficiently evaluated not reviewed unknown Array rs62621223 304 10758 0.028258 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - PNPLA5 Thr200Ile T200I not reviewed Insufficiently evaluated not reviewed unknown Array rs10428037 314 10758 0.0291876 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PNPLA5 Leu140Phe L140F not reviewed Insufficiently evaluated not reviewed unknown Array rs2071883 1306 10748 0.121511 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PNPLA6 Ala364Pro A364P not reviewed Insufficiently evaluated not reviewed unknown Array rs17854645 1893 10758 0.175962 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PNPLA7 Trp1055Arg W1055R not reviewed Insufficiently evaluated not reviewed unknown Array rs1891627 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA7 Trp1080Arg W1080R not reviewed Insufficiently evaluated not reviewed unknown Array rs1891627 10685 10702 0.998412 25 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PNPLA7 Asp1050Asn D1050N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PNPLA7 Asp1075Asn D1075N not reviewed Insufficiently evaluated not reviewed unknown Array rs4962237 755 10754 0.0702064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PNPLA7 Leu1018Met L1018M not reviewed Insufficiently evaluated not reviewed unknown Array rs35177111 755 10758 0.0701803 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PNPLA7 Leu993Met L993M not reviewed Insufficiently evaluated not reviewed unknown Array rs35177111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PNPLA7 Pro908Leu P908L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA7 Pro933Leu P933L not reviewed Insufficiently evaluated not reviewed unknown Array rs3812499 9 10532 0.000854538 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA7 His902Arg H902R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA7 His927Arg H927R not reviewed Insufficiently evaluated not reviewed unknown Array rs73567240 772 10390 0.0743022 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PNPLA7 Val824Met V824M not reviewed Insufficiently evaluated not reviewed unknown Array rs34938599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Val849Met V849M not reviewed Insufficiently evaluated not reviewed unknown Array rs34938599 407 10752 0.0378534 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Val803Ala V803A not reviewed Insufficiently evaluated not reviewed unknown Array rs1891630 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNPLA7 Val828Ala V828A not reviewed Insufficiently evaluated not reviewed unknown Array rs1891630 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PNPLA7 Val486Ala V486A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNPLA7 Val511Ala V511A not reviewed Insufficiently evaluated not reviewed unknown Array 77 10696 0.00719895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNPLA7 Glu408Lys E408K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Glu433Lys E433K not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 His405Asp H405D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA7 His430Asp H430D not reviewed Insufficiently evaluated not reviewed unknown Array rs55782802 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA7 Glu368Asp E368D not reviewed Insufficiently evaluated not reviewed unknown Array rs3750379 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PNPLA7 Glu393Asp E393D not reviewed Insufficiently evaluated not reviewed unknown Array rs3750379 765 10684 0.0716024 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PNPLA7 Gln364Glu Q364E not reviewed Insufficiently evaluated not reviewed unknown Array rs3750378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PNPLA7 Gln389Glu Q389E not reviewed Insufficiently evaluated not reviewed unknown Array rs3750378 770 10662 0.0722191 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PNPLA7 Arg323Gln R323Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Arg348Gln R348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11137410 1394 10758 0.129578 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PNPLA7 Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA7 Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array rs12788 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA8 Val263Leu V263L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPT1 Asn590Asp N590D not reviewed Insufficiently evaluated not reviewed unknown Array rs7594497 1685 10754 0.156686 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PNPT1 Met572Val M572V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - PNPT1 Ile121Val I121V not reviewed Insufficiently evaluated not reviewed unknown Array rs782572 4805 10758 0.446644 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PNRC1 Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array 103 10756 0.00957605 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - PODN Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - PODN Arg32His R32H not reviewed Insufficiently evaluated not reviewed unknown Array rs1288386 3520 10400 0.338462 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.822 - - 1 - 0 N - - PODN Ala39Val A39V not reviewed Insufficiently evaluated not reviewed unknown Array rs17107831 577 10518 0.0548583 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PODN Leu102Met L102M not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PODN Glu106Gln E106Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58592078 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PODN Val520Ala V520A not reviewed Insufficiently evaluated not reviewed unknown Array rs1288389 7943 10712 0.741505 23 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PODNL1 Arg351Gln R351Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - PODNL1 Arg440Gln R440Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10488 0.00104882 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PODNL1 Arg442Gln R442Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - PODNL1 Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - 1 - 2 N - - PODNL1 Arg403His R403H not reviewed Insufficiently evaluated not reviewed unknown Array 283 10096 0.0280309 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PODNL1 Arg405His R405H not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - PODNL1 Arg311Trp R311W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 2 N - - PODNL1 Arg400Trp R400W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10022 0.00329275 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - PODNL1 Arg402Trp R402W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.832 - - 7 Y 1 N - - PODXL Asp401Glu D401E not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PODXL Asp433Glu D433E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PODXL Val326Ile V326I not reviewed Insufficiently evaluated not reviewed unknown Array rs3212298 402 10758 0.0373675 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PODXL Val358Ile V358I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PODXL Pro266Ala P266A not reviewed Insufficiently evaluated not reviewed unknown Array rs35893129 593 10758 0.0551218 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PODXL Pro298Ala P298A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PODXL Ser194Leu S194L not reviewed Insufficiently evaluated not reviewed unknown Array rs12670788 3781 10758 0.351459 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PODXL Thr126Pro T126P not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - PODXL Gly112Ser G112S not reviewed Insufficiently evaluated not reviewed unknown Array rs3735035 3773 10758 0.350716 34 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PODXL2 Pro255Leu P255L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PODXL2 Leu306Val L306V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - PODXL2 Arg423Pro R423P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - POF1B Met349Leu M349L not reviewed Insufficiently evaluated not reviewed unknown Array rs363774 7269 8761 0.8297 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - POF1B Arg329Gln R329Q pathogenic Low clinical importance, Uncertain pathogenic recessive Array 35 8761 0.00399498 1 0 1 3 3 1 Y 2 Y 0 Y 2 Y 3 - 1 - - Y - - 0.991 - - 0 - 4 N 9 0 0 This variant was implicated in premature ovarian failure with an etiology of primary amenorrhea in a Lebanese family. The expression of POF1B R329Q has been shown to lead to ciliogenetic and cystogenetic problems because of improper cilia positioning and mitotic activity. The mutant form of the variant can bind F-actin, a protein critical for a cell's cytoskeletal structure, and hinder one of the protein's main functions, which is to assist in the regulation of epithelial polarity. POF1B Arg315His R315H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - POF1B Gln214Arg Q214R not reviewed Insufficiently evaluated not reviewed unknown Array rs60768249 383 8761 0.0437165 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - POFUT1 Met251Val M251V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - POFUT1 Leu322Phe L322F not reviewed Insufficiently evaluated not reviewed unknown Array rs17268666 459 10758 0.0426659 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POFUT2 Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POGK Val126Ile V126I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POGZ Glu1312Asp E1312D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POGZ Glu1365Asp E1365D not reviewed Insufficiently evaluated not reviewed unknown Array rs35198305 218 10758 0.020264 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - POGZ Arg564Gln R564Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POGZ Arg617Gln R617Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72996036 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - POL3S Pro406Ala P406A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POL3S Leu324Val L324V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POL3S Gln30Arg Q30R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLA1 Met725Val M725V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - POLA2 Phe337Ser F337S not reviewed Insufficiently evaluated not reviewed unknown Array rs55765473 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POLA2 Gly583Arg G583R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs487989 1656 10758 0.153932 15 0 15 1 1 2 Y - - - - - - - - - - - - - Y 0.024 - - 6 Y 1 N - - POLD1 Arg119His R119H not reviewed Insufficiently evaluated not reviewed unknown Array rs1726801 1599 10750 0.148744 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLD2 Phe299Ser F299S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - POLDIP2 Arg322His R322H not reviewed Insufficiently evaluated not reviewed unknown Array rs13469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLDIP2 Gln27Pro Q27P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLDIP2 Pro9Ala P9A not reviewed Insufficiently evaluated not reviewed unknown Array rs4795429 78 78 1 30 0 60 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POLDIP3 Ser339Cys S339C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLDIP3 Ser368Cys S368C not reviewed Insufficiently evaluated not reviewed unknown Array rs60359379 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - POLDIP3 Ala16Val A16V not reviewed Insufficiently evaluated not reviewed unknown Array rs28627172 1865 10758 0.173359 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - POLE Thr2273Ser T2273S not reviewed Insufficiently evaluated not reviewed unknown Array rs73481453 52 10758 0.00483361 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POLE Phe2258Ser F2258S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - POLE Ala2056Thr A2056T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - POLE Asn1396Ser N1396S not reviewed Insufficiently evaluated not reviewed unknown Array rs5744934 1484 10758 0.137944 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.484 - - 0 - 0 N - - POLE Pro697Arg P697R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 5 Y 2 - 1 - - POLE Arg260Gln R260Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5744752 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.522 - - 0 - 1 N - - POLE Ala252Val A252V not reviewed Insufficiently evaluated not reviewed unknown Array rs5744751 807 10758 0.0750139 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - POLE Ala31Ser A31S not reviewed Insufficiently evaluated not reviewed unknown Array rs34047482 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - POLE4 Gly17Val G17V not reviewed Insufficiently evaluated not reviewed unknown Array rs12366 3004 9198 0.326593 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - POLG Gln1236His Q1236H pathogenic Low clinical importance, Uncertain pathogenic other Array rs3087374 626 10758 0.0581893 3 0 3 2 2 1 Y 1 Y 0 Y - - 3 Y - - Y - - - 0.937 Y - -1 - 3 - 8 0 0 Generally a nonpathogenic polymorphism, but may have a modifier effect that increases severity when combined in cis with other pathogenic variants. POLG Phe1092Leu F1092L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - POLG Gly923Arg G923R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 6 Y 3 N - - POLG Gly517Val G517V pathogenic Insufficiently evaluated pathogenic other Array 59 10758 0.00548429 0 0 0 5 5 3 Y - - 1 Y 0 Y 5 - 1 - Y - - - 0.025 Y - 8 Y POLG-Related Disorders 13 633 1 974 20.003 2 - 9 - - This variant has been associated with POLG-related neuropathy/ataxia, but recent reports contradict the originally published hypothesis of dominant pathogenic effect. It has been seen heterozygously in healthy relatives of affected individiuals; it may be a modifier gene or act in a recessive manner, or it may be a benign polymorphism. POLG Gln43Arg Q43R not reviewed Insufficiently evaluated not reviewed unknown Array 65 9188 0.00707444 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 4 - - POLG Arg42Gln R42Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 3 - - POLG2 Ala169Thr A169T not reviewed Insufficiently evaluated not reviewed unknown Array rs1427463 3187 10758 0.296245 27 0 37 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - POLH Met14Val M14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 0 - 3 N - - POLH Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.037 - Y 2 - 1 N - - POLH Glu82Asp E82D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 - Y -2 - 3 N - - POLH Met595Val M595V not reviewed Insufficiently evaluated not reviewed unknown Array 249 10758 0.0231456 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 - Y 0 - 2 - 8 - - POLH Met647Leu M647L not reviewed Insufficiently evaluated not reviewed unknown Array rs6941583 1340 10758 0.124558 11 0 14 0 0 - - - - - - - - - - - - Y - - - 0.073 - Y -3 - 2 - 1 - - POLI Phe532Ser F532S not reviewed Insufficiently evaluated not reviewed unknown Array 269 10756 0.0250093 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 10 - - POLI Ala731Thr A731T not reviewed Insufficiently evaluated not reviewed unknown Array rs8305 8397 10754 0.780826 53 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLK Gly403Asp G403D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - POLL Arg438Trp R438W not reviewed Insufficiently evaluated not reviewed unknown Array rs3730477 1899 10758 0.17652 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - POLN Arg425Cys R425C not reviewed Insufficiently evaluated not reviewed unknown Array rs9328764 2664 10756 0.247676 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - POLN Gly336Ser G336S not reviewed Insufficiently evaluated not reviewed unknown Array rs10011549 2790 10756 0.25939 30 0 42 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - POLN Pro315Ser P315S not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 3 - 2 - 5 - - POLN Met310Leu M310L not reviewed Insufficiently evaluated not reviewed unknown Array rs10018786 2786 10758 0.25897 30 0 42 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - POLQ Ala2547Val A2547V not reviewed Insufficiently evaluated not reviewed unknown Array rs2306211 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLQ Leu2538Val L2538V not reviewed Insufficiently evaluated not reviewed unknown Array rs3218634 1204 10758 0.111917 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POLQ Gln2513Arg Q2513R not reviewed Insufficiently evaluated not reviewed unknown Array rs1381057 7172 10758 0.666667 49 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POLQ Ala2304Val A2304V not reviewed Insufficiently evaluated not reviewed unknown Array rs532411 1217 10758 0.113125 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POLQ Pro2014Leu P2014L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLQ Arg1723Cys R1723C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - POLQ His1545Gln H1545Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3218652 173 10732 0.01612 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLQ His1201Arg H1201R not reviewed Insufficiently evaluated not reviewed unknown Array rs3218651 1420 10758 0.131995 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLQ Asn1130Tyr N1130Y not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POLQ Thr982Arg T982R not reviewed Insufficiently evaluated not reviewed unknown Array rs3218649 6441 10752 0.599051 44 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POLQ Ala581Val A581V not reviewed Insufficiently evaluated not reviewed unknown Array rs487848 1217 10758 0.113125 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POLQ Val310Gly V310G not reviewed Insufficiently evaluated not reviewed unknown Array rs55748151 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - POLQ Asp250Ala D250A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POLQ His225Tyr H225Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73857907 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLQ Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLQ Arg66Ile R66I not reviewed Insufficiently evaluated not reviewed unknown Array rs702017 10632 10756 0.988472 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - POLR1A Glu1622Lys E1622K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLR1A Ile1608Met I1608M not reviewed Insufficiently evaluated not reviewed unknown Array rs35093541 139 10096 0.0137678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLR1A Gly1437Asp G1437D not reviewed Insufficiently evaluated not reviewed unknown Array rs72932596 119 10446 0.0113919 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLR1A Arg1387Gln R1387Q not reviewed Insufficiently evaluated not reviewed unknown Array rs78239085 57 9824 0.00580212 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLR1A Ala1141Thr A1141T not reviewed Insufficiently evaluated not reviewed unknown Array rs34892520 970 9868 0.0982975 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLR1A Ile815Val I815V not reviewed Insufficiently evaluated not reviewed unknown Array rs34302587 128 9996 0.0128051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - POLR1A His652Gln H652Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72934521 121 9856 0.0122768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLR1A Lys364Glu K364E not reviewed Insufficiently evaluated not reviewed unknown Array rs35239368 1070 9586 0.111621 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POLR1A Ala248Thr A248T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR1A Pro150Ala P150A not reviewed Insufficiently evaluated not reviewed unknown Array rs4832242 7629 9672 0.788772 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POLR1B Ser239Leu S239L not reviewed Insufficiently evaluated not reviewed unknown Array rs1545133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR1B Ser295Leu S295L not reviewed Insufficiently evaluated not reviewed unknown Array rs1545133 5740 10758 0.533556 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - POLR1C Gly334Arg G334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR1E Val356Met V356M not reviewed Insufficiently evaluated not reviewed unknown Array rs7867180 821 10758 0.0763153 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POLR1E Arg383Lys R383K not reviewed Insufficiently evaluated not reviewed unknown Array rs10814571 2234 10758 0.207659 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - POLR2A Ala1835Thr A1835T not reviewed Insufficiently evaluated not reviewed unknown Array rs4344809 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLR2E Ser44Phe S44F benign Insufficiently evaluated benign unknown Array rs12459404 10757 10758 0.999907 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - POLR2J2 Lys28Asn K28N not reviewed Insufficiently evaluated not reviewed unknown Array 417 6424 0.0649128 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLR3A Arg582His R582H not reviewed Insufficiently evaluated not reviewed unknown Array rs34588967 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR3A Lys575Met K575M not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLR3A Phe98Cys F98C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLR3B Glu200Ala E200A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLR3B Glu258Ala E258A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLR3B Thr682Ala T682A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR3B Thr740Ala T740A not reviewed Insufficiently evaluated not reviewed unknown Array rs17038460 561 10758 0.0521472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POLR3C Lys198Glu K198E not reviewed Insufficiently evaluated not reviewed unknown Array rs35933200 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - POLR3E Ala116Val A116V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - POLR3F Lys140Asn K140N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - POLR3F Pro278Ser P278S not reviewed Insufficiently evaluated not reviewed unknown Array rs4814752 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 1 - 3 - - POLR3K Ser24Ala S24A not reviewed Insufficiently evaluated not reviewed unknown Array rs183360 106 106 1 44 0 88 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - POLRMT Val919Ile V919I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - -4 - 1 N - - POLRMT Val713Leu V713L not reviewed Insufficiently evaluated not reviewed unknown Array rs10421235 511 8802 0.058055 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 3 - - POLRMT Glu555Ala E555A not reviewed Insufficiently evaluated not reviewed unknown Array rs2238549 4292 9654 0.444583 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POLRMT Phe400Leu F400L not reviewed Insufficiently evaluated not reviewed unknown Array rs41553913 581 10758 0.0540063 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.182 - - 0 - 0 N - - POLRMT Met109Ile M109I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - POLS Val73Met V73M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - POLS Ala400Val A400V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POM121 Ser367Asn S367N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POM121 Pro460Ser P460S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POM121 His639Pro H639P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POM121 Pro699Leu P699L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POM121 Ala706Thr A706T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POM121 Val752Ile V752I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POM121 Tyr756His Y756H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POM121 Ala791Thr A791T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POM121 Thr857Ala T857A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POM121 Thr889Ile T889I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POM121 Ser901Gly S901G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POM121C Pro478Leu P478L not reviewed Insufficiently evaluated not reviewed unknown Array 2389 6518 0.366523 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - POM121C Pro302Thr P302T not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POM121C Ser294Leu S294L not reviewed Insufficiently evaluated not reviewed unknown Array 1852 10758 0.172151 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - POM121C Val8Leu V8L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10750 0.000744186 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POM121L12 Ala3Ser A3S not reviewed Insufficiently evaluated not reviewed unknown Array rs72598684 2040 9916 0.205728 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - POM121L12 Pro21Thr P21T not reviewed Insufficiently evaluated not reviewed unknown Array rs10229800 1228 10104 0.121536 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - POM121L12 Thr59Ser T59S not reviewed Insufficiently evaluated not reviewed unknown Array 364 9966 0.0365242 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POM121L12 Gln64Glu Q64E not reviewed Insufficiently evaluated not reviewed unknown Array rs11238247 4094 9894 0.413786 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - POM121L12 Gly122Ala G122A not reviewed Insufficiently evaluated not reviewed unknown Array 85 9972 0.00852387 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POM121L12 Pro144Ser P144S not reviewed Insufficiently evaluated not reviewed unknown Array rs73357087 1475 9784 0.150756 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POM121L12 Gly292Asp G292D not reviewed Insufficiently evaluated not reviewed unknown Array 28 10060 0.0027833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POMGNT1 Met623Val M623V not reviewed Insufficiently evaluated not reviewed unknown Array rs6659553 10114 10758 0.940138 56 0 102 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - POMGNT1 Asp556Asn D556N pathogenic Insufficiently evaluated pathogenic recessive Array 86 10758 0.00799405 1 0 1 3 3 2 Y 1 Y ! Y 1 Y 3 Y 1 Y Y - - - 0.882 Y - -1 - Muscle-Eye-Brain Disease 1 91 0 100 INF 3 N - - This variant was seen in a number of individuals with late onset limb-girdle muscular dystrophy, but it appears to be a weak penetrance. Later evidence point to it being a benign polymorphism. POMGNT1 Val504Ile V504I not reviewed Insufficiently evaluated not reviewed unknown Array rs17102066 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - POMGNT1 Ile307Met I307M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.479 Y - -1 - 2 N - - POMT1 Met118Leu M118L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -3 - 1 N - - POMT1 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - -3 - 3 N - - POMT1 Met64Leu M64L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - POMT1 Gln251Stop Q251X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 4 - 1 - - POMT1 Gln251Arg Q251R not reviewed Insufficiently evaluated not reviewed unknown Array rs2296949 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - POMT1 Val188Ile V188I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - POMT1 Val251Ile V251I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - POMT1 Val305Ile V305I not reviewed Insufficiently evaluated not reviewed unknown Array rs4740164 389 10758 0.0361591 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - POMT1 Val327Ile V327I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 2 - 2 - - POMT1 Asp294Glu D294E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - POMT1 Asp357Glu D357E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - POMT1 Asp411Glu D411E not reviewed Insufficiently evaluated not reviewed unknown Array rs11243406 408 10758 0.0379253 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - POMT1 Asp433Glu D433E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - -2 - 4 - 1 - - POMT2 Pro696Thr P696T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10556 0.000378931 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - POMZP3 Val178Met V178M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - POMZP3 Arg176His R176H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10722 0.000652863 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - POMZP3 Cys157Ser C157S not reviewed Insufficiently evaluated not reviewed unknown Array rs73365247 749 10736 0.0697653 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POMZP3 Leu153Pro L153P not reviewed Insufficiently evaluated not reviewed unknown Array rs1134609 4431 10708 0.413803 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - POMZP3 Leu8Val L8V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PON1 Gln192Arg Q192R not reviewed Insufficiently evaluated not reviewed unknown Array rs662 4431 10758 0.41188 40 0 58 1 1 3 Y - - - - - - - - - - - Y - - - - - 0 - 2 N - - PON1 Arg160Gly R160G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - PON1 Leu55Met L55M not reviewed Insufficiently evaluated not reviewed unknown Array rs854560 3284 10758 0.305261 20 0 25 11 11 - - - - - - - - - - - - - Y - - - - - -3 - 2 N - - PON2 Ser299Cys S299C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PON2 Ser311Cys S311C not reviewed Insufficiently evaluated not reviewed unknown Array rs7493 2651 10758 0.246421 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PON2 Ala136Gly A136G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PON2 Ala148Gly A148G not reviewed Insufficiently evaluated not reviewed unknown Array rs12026 2645 10758 0.245864 28 0 32 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 2 N - - POPDC2 Val29Ile V29I not reviewed Insufficiently evaluated not reviewed unknown Array rs4688023 4279 10758 0.39775 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - POR Ala503Val A503V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1057868 2376 10156 0.23395 30 0 39 3 2 - - - - - - - - - - - - Y - - Y - Y Y 2 - 4 N 10 - - POSTN Val729Met V729M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POSTN Val757Met V757M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POSTN Val759Met V759M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POSTN Val814Met V814M not reviewed Insufficiently evaluated not reviewed unknown Array rs9547952 852 10758 0.0791969 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POTEA Gly155Asp G155D not reviewed Insufficiently evaluated not reviewed unknown Array 46 10752 0.00427827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - POTEA Ser263Stop S263X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POTEA Ser309Stop S309X not reviewed Insufficiently evaluated not reviewed unknown Array rs73575237 264 10356 0.0254925 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POTEA Cys291Trp C291W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POTEA Cys337Trp C337W not reviewed Insufficiently evaluated not reviewed unknown Array rs73677934 511 10490 0.0487131 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.163 - - 7 Y 0 N - - POTEA Leu397Met L397M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POTEA Leu443Met L443M not reviewed Insufficiently evaluated not reviewed unknown Array rs73561413 250 9616 0.0259983 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.159 - - -3 - 0 N - - POTEA His424Pro H424P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POTEA His470Pro H470P not reviewed Insufficiently evaluated not reviewed unknown Array rs73677971 469 9530 0.049213 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - POTEB Ala568Thr A568T not reviewed Insufficiently evaluated not reviewed unknown Array rs1828868 70 126 0.555556 53 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POTEB Met535Lys M535K not reviewed Insufficiently evaluated not reviewed unknown Array rs1828869 28 46 0.608696 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - POTEB Arg524His R524H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - POTEB Lys511Glu K511E not reviewed Insufficiently evaluated not reviewed unknown Array rs1949282 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEB Gly487Glu G487E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.427 - - 6 Y 1 N - - POTEB Asn457Ser N457S not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - POTEB Gln286Glu Q286E not reviewed Insufficiently evaluated not reviewed unknown Array rs2445603 1 14 0.0714286 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - POTEB Glu250Gly E250G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - POTEB Ala230Val A230V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - POTEB Asn88Asp N88D not reviewed Insufficiently evaluated not reviewed unknown Array rs2458862 3 28 0.107143 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - POTEB Cys68Arg C68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 3 - 3 - - POTEB Cys64Trp C64W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - POTEB Met43Val M43V not reviewed Insufficiently evaluated not reviewed unknown Array rs2605913 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEC Met528Val M528V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEC Lys506Gln K506Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POTEC Arg477Gln R477Q not reviewed Insufficiently evaluated not reviewed unknown Array 356 3120 0.114103 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POTEC Cys221Arg C221R not reviewed Insufficiently evaluated not reviewed unknown Array rs7505568 466 3234 0.144094 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - POTEC Met166Ile M166I not reviewed Insufficiently evaluated not reviewed unknown Array 109 3234 0.0337044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POTEC Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POTEC His86Asp H86D not reviewed Insufficiently evaluated not reviewed unknown Array rs45469098 1367 3234 0.422696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POTEC His30Pro H30P not reviewed Insufficiently evaluated not reviewed unknown Array rs9807633 555 3234 0.171614 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - POTEC Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array rs28535987 3061 3232 0.947092 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POTED Arg58Gly R58G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - POTED Cys72Tyr C72Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - POTED Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array rs6517869 5 22 0.227273 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POTED Ile135Val I135V not reviewed Insufficiently evaluated not reviewed unknown Array rs6517870 60 80 0.75 27 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - POTED His244Tyr H244Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56121372 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - POTED Gln286Glu Q286E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - POTED Val300Ala V300A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POTED Met535Val M535V not reviewed Insufficiently evaluated not reviewed unknown Array 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEE Asn249Ser N249S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - POTEE Glu250Lys E250K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - POTEE Glu378Asp E378D not reviewed Insufficiently evaluated not reviewed unknown Array rs71345518 33 304 0.108553 5 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - POTEF Tyr918Phe Y918F not reviewed Insufficiently evaluated not reviewed unknown Array 7874 10108 0.778987 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - POTEF His896Arg H896R not reviewed Insufficiently evaluated not reviewed unknown Array rs2599793 2528 9164 0.275862 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POTEF Gln169Lys Q169K not reviewed Insufficiently evaluated not reviewed unknown Array 155 7244 0.021397 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POTEF Ser113Gly S113G not reviewed Insufficiently evaluated not reviewed unknown Array 4560 10616 0.42954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POTEG Gly47Glu G47E not reviewed Insufficiently evaluated not reviewed unknown Array 542 9160 0.0591703 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - POTEG Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array 392 10748 0.0364719 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POTEG Pro434Thr P434T not reviewed Insufficiently evaluated not reviewed unknown Array 158 1396 0.113181 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - POTEH Ser12Phe S12F not reviewed Insufficiently evaluated not reviewed unknown Array 601 7504 0.0800906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 1 N - - POU2F2 Gly163Arg G163R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - POU2F3 His152Arg H152R not reviewed Insufficiently evaluated not reviewed unknown Array rs7110845 7404 10758 0.688232 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POU2F3 Arg355Gln R355Q not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POU2F3 Arg390Lys R390K not reviewed Insufficiently evaluated not reviewed unknown Array rs2282537 1192 10758 0.110801 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - POU3F4 Gly237Ala G237A not reviewed Insufficiently evaluated not reviewed unknown Array rs5921978 7787 8761 0.888825 52 0 54 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - POU4F1 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array 37 10736 0.00344635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POU4F2 Ile40Thr I40T not reviewed Insufficiently evaluated not reviewed unknown Array rs13152799 1020 10456 0.0975516 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POU4F2 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POU5F1 Arg1Met R1M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POU5F1 Pro65Leu P65L not reviewed Insufficiently evaluated not reviewed unknown Array 3 7476 0.000401284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - POU5F1 Val30Ile V30I not reviewed Insufficiently evaluated not reviewed unknown Array rs41257954 58 6838 0.00848201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.217 - - -4 - 1 N - - POU5F1B Gly176Glu G176E not reviewed Insufficiently evaluated not reviewed unknown Array rs6998061 1136 3234 0.351268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - POU5F1B Lys182Thr K182T not reviewed Insufficiently evaluated not reviewed unknown Array rs13273814 494 3234 0.152752 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - POU5F1B Asn214Asp N214D not reviewed Insufficiently evaluated not reviewed unknown Array rs13274084 300 3234 0.0927644 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - POU5F1B Glu238Gln E238Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7002225 1381 3154 0.437857 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - POU6F2 Pro199Leu P199L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074936 1643 10746 0.152894 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - POU6F2 Gln234His Q234H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10674 0.000187371 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PP8961 Arg55Thr R55T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPA1 Thr6Ser T6S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 7 - - PPA2 Lys116Asn K116N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPA2 Lys180Asn K180N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPA2 Lys253Asn K253N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPA2 Lys264Asn K264N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPA2 Lys282Asn K282N not reviewed Insufficiently evaluated not reviewed unknown Array rs13787 3706 10750 0.344744 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PPA2 Thr22Ala T22A not reviewed Insufficiently evaluated not reviewed unknown Array 177 10730 0.0164958 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 2 - - PPAN Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPAN Leu192Arg L192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPAN Gln408Arg Q408R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPAN-P2RY11 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PPAN-P2RY11 Leu192Arg L192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 6 Y 2 N - - PPAN-P2RY11 Gln408Arg Q408R not reviewed Insufficiently evaluated not reviewed unknown Array rs11559188 530 10756 0.0492748 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PPAN-P2RY11 Ala507Thr A507T not reviewed Insufficiently evaluated not reviewed unknown Array rs3745601 1213 10752 0.112816 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PPAN-P2RY11 Ala781Thr A781T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPAP2A Ile69Val I69V not reviewed Insufficiently evaluated not reviewed unknown Array rs71622181 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPAP2C Ala124Val A124V not reviewed Insufficiently evaluated not reviewed unknown Array rs1138439 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPAP2C Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array rs1138439 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPAP2C Ala201Val A201V not reviewed Insufficiently evaluated not reviewed unknown Array rs1138439 4760 10758 0.442461 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPAPDC2 Ser7Gly S7G not reviewed Insufficiently evaluated not reviewed unknown Array rs34250374 493 7452 0.0661567 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPAPDC2 Gly69Ser G69S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 2 - 2 N - - PPAPDC2 Ser293Arg S293R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - PPAPDC3 Thr174Met T174M not reviewed Insufficiently evaluated not reviewed unknown Array rs2966332 6989 10756 0.649777 46 0 65 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PPARA Phe126Tyr F126Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 2 N - - PPARA Leu162Val L162V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800206 485 10758 0.0450827 4 0 4 6 6 - - 2 - - - - - - - 1 - - Y - - 0.013 - - 0 - 2 N - - May be associated with the development of stage C heart failure. PPARA Val227Ala V227A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - PPARG Pro12Ala P12A not reviewed Moderate clinical importance, Uncertain not reviewed undefined Array rs1801282 954 10758 0.0886782 6 0 6 3 3 3 Y 1 - 2 - 1 - 3 Y 2 Y Y - Y Y 0.979 Y - 2 - Diabetes Mellitus with Acanthosis Nigricans and Hypertension 0 0 0 0 - 4 N 10 - - PPARG His449Asn H449N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PPARG His477Asn H477N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - PPARGC1A Thr612Met T612M not reviewed Insufficiently evaluated not reviewed unknown Array rs3736265 620 10758 0.0576315 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPARGC1A Gly482Ser G482S not reviewed Insufficiently evaluated not reviewed unknown Array rs8192678 2825 10758 0.262595 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPARGC1B Gly31Arg G31R not reviewed Insufficiently evaluated not reviewed unknown Array rs45518035 78 10758 0.00725042 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPARGC1B Ala203Pro A203P not reviewed Insufficiently evaluated not reviewed unknown Array rs7732671 1181 10758 0.109779 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPARGC1B Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45520937 332 10752 0.030878 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPARGC1B Val279Ile V279I not reviewed Insufficiently evaluated not reviewed unknown Array rs17572019 692 10758 0.0643242 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 6 - - PPARGC1B Arg292Ser R292S not reviewed Insufficiently evaluated not reviewed unknown Array rs11959820 911 10758 0.0846812 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PPARGC1B Pro714Leu P714L not reviewed Insufficiently evaluated not reviewed unknown Array rs45509002 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPBPL1 Ser71Asn S71N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPCDC Ile78Met I78M not reviewed Insufficiently evaluated not reviewed unknown Array rs2304899 8996 10758 0.836215 48 0 83 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PPEF1 Gly381Ser G381S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPEF1 Gly415Ser G415S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPEF1 Gly443Ser G443S not reviewed Insufficiently evaluated not reviewed unknown Array rs11796620 405 8761 0.0462276 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - PPEF1 Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPEF1 Arg520His R520H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPEF1 Arg548His R548H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPEF2 Arg608Gln R608Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PPEF2 Arg608Leu R608L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - PPEF2 Ala596Val A596V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - PPEF2 Ser575Cys S575C not reviewed Insufficiently evaluated not reviewed unknown Array rs17000961 1499 10758 0.139338 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - PPEF2 Arg553Lys R553K not reviewed Insufficiently evaluated not reviewed unknown Array rs34155925 1500 10758 0.139431 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.669 - - -3 - 0 N - - PPEF2 Met481Leu M481L not reviewed Insufficiently evaluated not reviewed unknown Array rs6858658 10745 10758 0.998792 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PPEF2 Val394Leu V394L not reviewed Insufficiently evaluated not reviewed unknown Array rs34097437 373 10756 0.0346783 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - PPEF2 Glu172Lys E172K not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PPEF2 Arg118Ser R118S not reviewed Insufficiently evaluated not reviewed unknown Array rs28436183 1566 10758 0.145566 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 1 N - - PPEF2 Ser76Thr S76T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.629 - - -2 - 1 N - - PPEF2 Ile74Thr I74T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPFIA1 Val71Ile V71I not reviewed Insufficiently evaluated not reviewed unknown Array rs546502 2059 10758 0.191392 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PPFIA1 Pro151Ser P151S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 3 - 1 N - - PPFIA2 Ala1119Thr A1119T not reviewed Insufficiently evaluated not reviewed unknown Array rs56241008 139 9828 0.0141433 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPFIA2 Asn462Thr N462T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPFIA3 Ala563Ser A563S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303053 5209 10738 0.4851 45 0 59 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PPFIA4 Ala319Ser A319S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPFIA4 Gly650Ser G650S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPFIBP1 Leu95Arg L95R not reviewed Insufficiently evaluated not reviewed unknown Array rs73294067 246 10758 0.0228667 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 6 Y 1 N - - PPFIBP1 Val148Leu V148L not reviewed Insufficiently evaluated not reviewed unknown Array rs2194816 10686 10758 0.993307 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPFIBP2 Thr636Ser T636S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - -2 - 1 N - - PPFIBP2 Arg658Gly R658G not reviewed Insufficiently evaluated not reviewed unknown Array rs4758209 10740 10758 0.998327 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PPFIBP2 Met797Thr M797T not reviewed Insufficiently evaluated not reviewed unknown Array 1005 10758 0.0934189 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PPHLN1 Gln341Pro Q341P not reviewed Insufficiently evaluated not reviewed unknown Array rs1669885 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPIAL4G Phe112Leu F112L not reviewed Insufficiently evaluated not reviewed unknown Array rs6604511 1862 7714 0.241379 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.663 - - 0 - 0 N - - PPIAL4G Gln24Leu Q24L not reviewed Insufficiently evaluated not reviewed unknown Array rs6604516 277 7814 0.0354492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPIC Asn190Ser N190S not reviewed Insufficiently evaluated not reviewed unknown Array rs451195 2757 10758 0.256274 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PPID Gly335Glu G335E not reviewed Insufficiently evaluated not reviewed unknown Array rs17843956 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPID Leu302Ile L302I not reviewed Insufficiently evaluated not reviewed unknown Array rs9410 3471 10756 0.322704 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PPIE Glu204Lys E204K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPIE Glu270Lys E270K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.155 - - 0 - 0 N - - PPIE Glu282Gly E282G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPIF Pro137Leu P137L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - 7 Y 2 N - - PPIG Asp445Glu D445E not reviewed Insufficiently evaluated not reviewed unknown Array rs1050354 6654 10658 0.62432 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PPIG Asn699Asp N699D not reviewed Insufficiently evaluated not reviewed unknown Array rs8207 2928 10754 0.272271 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PPIL2 Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array rs73382365 38 10754 0.00353357 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 1 N - - PPIL3 Asp146Glu D146E not reviewed Insufficiently evaluated not reviewed unknown Array rs7562391 2284 10758 0.212307 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PPIL3 Asp150Glu D150E not reviewed Insufficiently evaluated not reviewed unknown Array rs7562391 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPIL5 Ile96Asn I96N not reviewed Insufficiently evaluated not reviewed unknown Array rs17121605 2642 10750 0.245767 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PPIL5 Thr136Ala T136A not reviewed Insufficiently evaluated not reviewed unknown Array rs34947556 170 10754 0.0158081 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.296 - - 1 - 1 N - - PPIL5 Arg229Trp R229W not reviewed Insufficiently evaluated not reviewed unknown Array rs7148147 2469 10758 0.229504 26 0 28 0 0 - - - - - - - - - - - - - - - - 0.904 - - 7 Y 1 N - - PPIL6 His110Arg H110R not reviewed Insufficiently evaluated not reviewed unknown Array rs9398200 282 10758 0.026213 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - PPIL6 His78Arg H78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPL Gln1573Glu Q1573E not reviewed Insufficiently evaluated not reviewed unknown Array rs2037912 4324 10758 0.401933 27 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PPL Ala1007Val A1007V not reviewed Insufficiently evaluated not reviewed unknown Array rs2075639 669 10756 0.0621978 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPL Leu998Arg L998R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPL Glu936Gln E936Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744956 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPL Arg819Ser R819S not reviewed Insufficiently evaluated not reviewed unknown Array rs2734742 10006 10758 0.930099 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PPL Gln665Arg Q665R not reviewed Insufficiently evaluated not reviewed unknown Array rs74003543 19 10428 0.00182202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPL His631Tyr H631Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34936263 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPL Arg589Gln R589Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1049205 4334 10758 0.402863 26 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPL Leu335Met L335M not reviewed Insufficiently evaluated not reviewed unknown Array rs35340520 583 10758 0.0541922 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PPL Glu327Lys E327K not reviewed Insufficiently evaluated not reviewed unknown Array rs74003551 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPL Arg251His R251H not reviewed Insufficiently evaluated not reviewed unknown Array rs61734749 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPM1B Arg319Gln R319Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 0 - 1 N - - PPM1B Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPM1B Glu125Asp E125D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPM1B Glu412Asp E412D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - -2 - 1 N - - PPM1F Leu420Arg L420R not reviewed Insufficiently evaluated not reviewed unknown Array rs2070507 338 10758 0.0314185 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - PPM1F Ala260Val A260V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730100 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPM1F Arg132Cys R132C not reviewed Insufficiently evaluated not reviewed unknown Array rs9610645 1067 10720 0.0995336 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PPM1J Arg408Gln R408Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35570703 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - 0 - 2 N - - PPM1J Ile291Thr I291T not reviewed Insufficiently evaluated not reviewed unknown Array 226 10758 0.0210076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - PPM1J Val272Gly V272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 8 Y 1 N - - PPM1J Val236Ile V236I not reviewed Insufficiently evaluated not reviewed unknown Array rs10857971 10346 10758 0.961703 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PPM1J Leu213Phe L213F not reviewed Insufficiently evaluated not reviewed unknown Array rs34611728 1008 10758 0.0936977 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - PPM1J Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 7 Y 0 N - - PPM1K Arg210Gln R210Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PPOX Leu78Phe L78F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 0 - 3 N - - PPOX Pro256Arg P256R benign Low clinical importance, Uncertain benign recessive Array 78 10756 0.00725177 0 0 0 2 2 1 Y 1 Y 1 Y - - - - - - Y Y - - 0.381 Y - 5 Y 4 N 7 0 0 This variant has 0.7% allele frequency in HapMap and occurs in a heme biosynthesis gene. Other variants in this gene are implicated in causing porphyria in a recessive manner, but this variant is considered a polymorphism and retains normal function in a eukaryotic expression system. PPOX Arg304His R304H not reviewed Insufficiently evaluated not reviewed unknown Array rs36013429 483 10758 0.0448968 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 6 - - PPP1R12B Pro599Thr P599T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP1R12C Pro590Thr P590T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - PPP1R13B Gly561Ala G561A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R14C Thr10Ala T10A not reviewed Insufficiently evaluated not reviewed unknown Array 710 2744 0.258746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PPP1R15A Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array rs564196 2805 10742 0.261125 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - PPP1R15A Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array rs3786734 484 10750 0.0450233 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - PPP1R15A Asp115Gly D115G not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - PPP1R15A Val199Ala V199A not reviewed Insufficiently evaluated not reviewed unknown Array rs611251 2801 10758 0.260364 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 1 N - - PPP1R15A Arg251Pro R251P not reviewed Insufficiently evaluated not reviewed unknown Array rs557806 3373 10758 0.313534 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PPP1R15A Lys277Glu K277E not reviewed Insufficiently evaluated not reviewed unknown Array rs610308 5250 10758 0.488009 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPP1R15A Gly312Ser G312S not reviewed Insufficiently evaluated not reviewed unknown Array rs11541192 2323 10758 0.215932 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.458 - - 2 - 0 N - - PPP1R15A Ala316Pro A316P not reviewed Insufficiently evaluated not reviewed unknown Array rs556052 5104 10758 0.474438 34 0 49 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - PPP1R15A Glu442Lys E442K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 2 - 1 - - PPP1R15A Arg476Ser R476S not reviewed Insufficiently evaluated not reviewed unknown Array rs35087747 1768 10758 0.164343 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PPP1R15A Lys488Glu K488E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - PPP1R15A Thr597Ala T597A not reviewed Insufficiently evaluated not reviewed unknown Array rs500079 3966 10754 0.368793 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PPP1R15B Glu363Gly E363G not reviewed Insufficiently evaluated not reviewed unknown Array rs2089891 710 10756 0.0660097 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - PPP1R15B Asn308Ser N308S not reviewed Insufficiently evaluated not reviewed unknown Array rs3014626 10408 10758 0.967466 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPP1R16B Ala270Gly A270G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - PPP1R1A Glu109Gly E109G not reviewed Insufficiently evaluated not reviewed unknown Array rs1249958 9509 9796 0.970702 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PPP1R1B Arg160His R160H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R1B Arg196His R196H not reviewed Insufficiently evaluated not reviewed unknown Array rs35797948 456 10758 0.0423871 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R2 Lys18Arg K18R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -3 - 1 N - - PPP1R3A Gln1115Arg Q1115R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R3A Asp905Tyr D905Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1799999 1452 10756 0.134994 17 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PPP1R3A Arg883Ser R883S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800000 32 10756 0.00297508 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP1R3A Leu882His L882H not reviewed Insufficiently evaluated not reviewed unknown Array rs2974938 10411 10756 0.967925 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PPP1R3A Arg627Lys R627K not reviewed Insufficiently evaluated not reviewed unknown Array rs35067467 392 10758 0.036438 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - PPP1R3A Asn476Lys N476K not reviewed Insufficiently evaluated not reviewed unknown Array rs2974944 10707 10750 0.996 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PPP1R3A Val451Met V451M not reviewed Insufficiently evaluated not reviewed unknown Array rs2974942 10432 10756 0.969877 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPP1R3B Ser41Arg S41R not reviewed Insufficiently evaluated not reviewed unknown Array rs61756425 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - PPP1R3D Asp107Asn D107N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PPP1R3F Phe351Ser F351S not reviewed Insufficiently evaluated not reviewed unknown Array rs17148347 837 8761 0.095537 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PPP1R3G Pro280Gln P280Q not reviewed Insufficiently evaluated not reviewed unknown Array rs436556 2581 3230 0.799071 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PPP1R9A Met331Val M331V not reviewed Insufficiently evaluated not reviewed unknown Array rs10230714 1496 10758 0.139059 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPP1R9A Glu449Lys E449K not reviewed Insufficiently evaluated not reviewed unknown Array rs73423007 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R9A Gly805Ala G805A not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R9B Arg622Gln R622Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R9B Arg355Gln R355Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R2D Gly131Ser G131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP2R2D Arg325Gln R325Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34473884 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R3A Asp67Asn D67N not reviewed Insufficiently evaluated not reviewed unknown Array rs57374999 137 10758 0.0127347 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PPP2R3A Asp67Gly D67G not reviewed Insufficiently evaluated not reviewed unknown Array rs9814557 2623 10758 0.243819 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - PPP2R3A Ala171Ser A171S not reviewed Insufficiently evaluated not reviewed unknown Array rs6779903 3820 10758 0.355085 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PPP2R3A Ser260Arg S260R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - PPP2R3A Ser642Gly S642G not reviewed Insufficiently evaluated not reviewed unknown Array rs17197552 2915 10756 0.271012 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PPP2R3A Pro695Leu P695L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 7 Y 1 - 3 - - PPP2R3A Pro74Leu P74L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 1 - 3 - - PPP2R3A Asp124Asn D124N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP2R3A Asp745Asn D745N not reviewed Insufficiently evaluated not reviewed unknown Array rs16843645 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PPP2R3B Ala120Val A120V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP2R3B Ala519Val A519V not reviewed Insufficiently evaluated not reviewed unknown Array rs71541971 2617 10656 0.245589 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.365 - - 2 - 0 N - - PPP2R4 Ser280Leu S280L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP2R4 Ser322Leu S322L not reviewed Insufficiently evaluated not reviewed unknown Array rs2480452 576 10758 0.0535415 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PPP2R4 Ser357Leu S357L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PPP2R5C Ala476Pro A476P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP2R5C Ala515Pro A515P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742424 33 126 0.261905 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPP3CC Ala501Val A501V not reviewed Insufficiently evaluated not reviewed unknown Array rs28764007 144 10756 0.0133879 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP4R1 Ala797Thr A797T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP4R1 Ala814Thr A814T not reviewed Insufficiently evaluated not reviewed unknown Array rs73395775 78 10320 0.00755814 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP4R1 Ser576Asn S576N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP4R1 Ser593Asn S593N not reviewed Insufficiently evaluated not reviewed unknown Array rs2306134 1631 9656 0.168911 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPRC1 Arg159Trp R159W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - PPRC1 Ser536Gly S536G not reviewed Insufficiently evaluated not reviewed unknown Array rs17114388 42 10758 0.00390407 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - PPRC1 Val822Ile V822I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731871 1058 10758 0.0983454 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PPT1 Gln176His Q176H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PPT1 Gln279His Q279H not reviewed Insufficiently evaluated not reviewed unknown Array rs72937434 280 10758 0.0260271 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.089 Y Y -1 - 2 N - - PPT1 Ile134Thr I134T not reviewed Insufficiently evaluated not reviewed unknown Array rs1800205 370 10758 0.034393 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - PPT2 Cys11Trp C11W not reviewed Insufficiently evaluated not reviewed unknown Array rs3134604 6767 7506 0.901545 38 0 69 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PPT2 Cys5Trp C5W not reviewed Insufficiently evaluated not reviewed unknown Array rs3134604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPT2 Ala34Glu A34E not reviewed Insufficiently evaluated not reviewed unknown Array rs3096696 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - PPT2 Ala40Glu A40E not reviewed Insufficiently evaluated not reviewed unknown Array rs3096696 1486 7512 0.197817 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PPT2 Phe153Val F153V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PPT2 Phe159Val F159V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPY Glu78Gly E78G not reviewed Insufficiently evaluated not reviewed unknown Array rs7215698 476 9854 0.0483053 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - PPYR1 Ala99Ser A99S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229967 2953 10758 0.274493 30 0 29 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - PPYR1 Cys201Tyr C201Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PPYR1 Arg236Cys R236C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PPYR1 Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array rs3824733 2450 10758 0.227738 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.332 - - 8 Y 0 N - - PPYR1 Val276Met V276M not reviewed Insufficiently evaluated not reviewed unknown Array rs1936339 147 10758 0.0136642 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - PQLC2 Ser16Asn S16N not reviewed Insufficiently evaluated not reviewed unknown Array rs12140547 823 10758 0.0765012 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PQLC2 Gly108Asp G108D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PQLC2 Gly173Asp G173D not reviewed Insufficiently evaluated not reviewed unknown Array rs41264079 844 10754 0.0784824 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - PRAGMIN Gly1222Ser G1222S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRAGMIN Ala1111Thr A1111T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAGMIN Val1039Met V1039M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRAGMIN Ser576Cys S576C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAGMIN Pro567Leu P567L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAGMIN Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRAGMIN Asp247Tyr D247Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAGMIN Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRAGMIN Arg137Gly R137G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRAGMIN Leu122Ile L122I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRAM1 Pro454Ser P454S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAM1 Glu75Gln E75Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4990821 4004 9562 0.418741 15 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRAM1 Pro73Gln P73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4239541 4026 9602 0.419288 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRAM1 Lys57Gln K57Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4804305 2182 9914 0.220093 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRAM1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs968502 2837 9848 0.288079 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PRAME Trp7Arg W7R not reviewed Insufficiently evaluated not reviewed unknown Array rs2266988 6772 10758 0.629485 45 0 73 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - PRAMEF1 Val54Met V54M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10752 0.00427827 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - PRAMEF1 Trp98Arg W98R not reviewed Insufficiently evaluated not reviewed unknown Array 760 10748 0.0707108 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 1 N - - PRAMEF1 Leu105Stop L105X not reviewed Insufficiently evaluated not reviewed unknown Array 1487 10758 0.138223 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PRAMEF1 Glu110Gly E110G not reviewed Insufficiently evaluated not reviewed unknown Array 1556 10758 0.144637 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 6 Y 0 N - - PRAMEF1 Cys138Arg C138R not reviewed Insufficiently evaluated not reviewed unknown Array 1043 10756 0.0969691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - PRAMEF1 Arg213His R213H not reviewed Insufficiently evaluated not reviewed unknown Array rs1063769 3145 10758 0.292341 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRAMEF1 Pro218Ser P218S not reviewed Insufficiently evaluated not reviewed unknown Array rs1769774 3024 10758 0.281093 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PRAMEF1 Asn233Thr N233T not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF1 Gln252Glu Q252E not reviewed Insufficiently evaluated not reviewed unknown Array rs1063776 9395 10756 0.873466 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRAMEF1 Tyr329Phe Y329F not reviewed Insufficiently evaluated not reviewed unknown Array 92 10750 0.00855814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRAMEF1 Lys352Glu K352E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRAMEF1 Ala372Gly A372G not reviewed Insufficiently evaluated not reviewed unknown Array rs1063795 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF1 Arg386Ser R386S not reviewed Insufficiently evaluated not reviewed unknown Array rs1052908 2244 10746 0.208822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRAMEF1 Ile391Met I391M not reviewed Insufficiently evaluated not reviewed unknown Array 205 10748 0.0190733 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRAMEF1 Ala393Val A393V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10748 0.0105136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 2 - 1 - - PRAMEF1 Phe430Leu F430L not reviewed Insufficiently evaluated not reviewed unknown Array 3750 10756 0.348643 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - PRAMEF1 Ser462Stop S462X not reviewed Insufficiently evaluated not reviewed unknown Array 666 10356 0.0643105 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PRAMEF1 Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array 4056 10276 0.394706 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - PRAMEF10 Asn459Thr N459T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF10 Gly402Arg G402R not reviewed Insufficiently evaluated not reviewed unknown Array 35 1148 0.0304878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRAMEF10 His336Asn H336N not reviewed Insufficiently evaluated not reviewed unknown Array 11 318 0.0345912 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PRAMEF10 Thr306Ala T306A not reviewed Insufficiently evaluated not reviewed unknown Array 5 164 0.0304878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PRAMEF10 Asp302His D302H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAMEF10 Tyr290Cys Y290C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRAMEF10 Asp260Val D260V not reviewed Insufficiently evaluated not reviewed unknown Array 280 9868 0.0283745 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 8 Y 1 N - - PRAMEF10 Trp253Stop W253X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRAMEF10 Glu246Val E246V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 5 Y 0 N - - PRAMEF10 Arg245His R245H not reviewed Insufficiently evaluated not reviewed unknown Array 157 9880 0.0158907 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PRAMEF10 His144Arg H144R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - PRAMEF10 Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array 4 78 0.0512821 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRAMEF10 Ser63Arg S63R not reviewed Insufficiently evaluated not reviewed unknown Array 4 88 0.0454545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAMEF10 Leu52Met L52M not reviewed Insufficiently evaluated not reviewed unknown Array 324 9814 0.0330141 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - -3 - 1 N - - PRAMEF11 Ser360Asn S360N not reviewed Insufficiently evaluated not reviewed unknown Array 10 3232 0.00309406 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - PRAMEF11 Lys175Asn K175N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF11 Glu103Gly E103G not reviewed Insufficiently evaluated not reviewed unknown Array rs2994114 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRAMEF12 Thr53Lys T53K not reviewed Insufficiently evaluated not reviewed unknown Array rs17346571 252 10758 0.0234244 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAMEF12 Met157Thr M157T not reviewed Insufficiently evaluated not reviewed unknown Array rs1812242 7890 10758 0.733408 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRAMEF12 Ser317Gly S317G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - PRAMEF12 Glu347Asp E347D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - PRAMEF12 Glu394Gly E394G not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.482 - - 6 Y 1 N - - PRAMEF12 Asn395Lys N395K not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - PRAMEF14 Met343Arg M343R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.817 - - 4 Y 1 N - - PRAMEF16 Ser320Thr S320T not reviewed Insufficiently evaluated not reviewed unknown Array 47 8506 0.00552551 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - -2 - 1 N - - PRAMEF17 Glu338Gln E338Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 4200 0.00261905 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - PRAMEF18 Ser427Leu S427L not reviewed Insufficiently evaluated not reviewed unknown Array 8913 8982 0.992318 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRAMEF19 Ser427Leu S427L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRAMEF2 Arg33Ser R33S not reviewed Insufficiently evaluated not reviewed unknown Array rs9661554 1260 10748 0.117231 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - PRAMEF2 Thr53Met T53M not reviewed Insufficiently evaluated not reviewed unknown Array 83 10746 0.0077238 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.351 - - 2 - 1 N - - PRAMEF2 Trp59Stop W59X not reviewed Insufficiently evaluated not reviewed unknown Array 108 10748 0.0100484 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRAMEF2 Val67Gly V67G not reviewed Insufficiently evaluated not reviewed unknown Array rs3204790 1647 10748 0.153238 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRAMEF2 Thr72Arg T72R not reviewed Insufficiently evaluated not reviewed unknown Array rs9659529 1289 10748 0.119929 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - PRAMEF2 Leu73Phe L73F not reviewed Insufficiently evaluated not reviewed unknown Array rs45443899 1656 10748 0.154075 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 0 N - - PRAMEF2 Glu83Lys E83K not reviewed Insufficiently evaluated not reviewed unknown Array rs9728577 356 10748 0.0331224 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PRAMEF2 Trp98Arg W98R not reviewed Insufficiently evaluated not reviewed unknown Array 69 10716 0.00643897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 2 N - - PRAMEF2 Leu122Val L122V not reviewed Insufficiently evaluated not reviewed unknown Array 345 10752 0.0320871 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - PRAMEF2 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - 1 - 0 N - - PRAMEF2 Ile204Met I204M not reviewed Insufficiently evaluated not reviewed unknown Array rs3204798 408 10742 0.0379818 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRAMEF2 Glu211Stop E211X not reviewed Insufficiently evaluated not reviewed unknown Array 407 10740 0.0378957 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRAMEF2 Lys223Arg K223R not reviewed Insufficiently evaluated not reviewed unknown Array 1286 10740 0.119739 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.556 - - -3 - 0 N - - PRAMEF2 Tyr225Cys Y225C not reviewed Insufficiently evaluated not reviewed unknown Array rs3204805 1603 10738 0.149283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRAMEF2 Cys235Gly C235G not reviewed Insufficiently evaluated not reviewed unknown Array 1592 10756 0.14801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRAMEF2 Asn297His N297H not reviewed Insufficiently evaluated not reviewed unknown Array 65 10748 0.00604764 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 1 N - - PRAMEF2 Thr301Ala T301A not reviewed Insufficiently evaluated not reviewed unknown Array rs12139546 1298 10748 0.120767 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 0 N - - PRAMEF2 Ala368Thr A368T not reviewed Insufficiently evaluated not reviewed unknown Array 49 10748 0.00455899 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - PRAMEF2 Cys375Arg C375R not reviewed Insufficiently evaluated not reviewed unknown Array rs17039307 2716 10744 0.252792 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRAMEF2 Cys375Tyr C375Y not reviewed Insufficiently evaluated not reviewed unknown Array 1788 10744 0.166418 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 6 Y 0 N - - PRAMEF2 Phe444Val F444V not reviewed Insufficiently evaluated not reviewed unknown Array 516 10400 0.0496154 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAMEF20 Asp83Asn D83N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10672 0.000562218 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - -1 - 0 N - - PRAMEF21 Asp83Asn D83N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRAMEF22 Leu107Met L107M not reviewed Insufficiently evaluated not reviewed unknown Array 549 6246 0.0878963 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PRAMEF22 Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array 235 4652 0.0505159 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRAMEF22 Tyr270Asn Y270N not reviewed Insufficiently evaluated not reviewed unknown Array 2062 2342 0.880444 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PRAMEF4 Ile436Asn I436N not reviewed Insufficiently evaluated not reviewed unknown Array 144 7030 0.0204836 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAMEF4 Gly423Ser G423S not reviewed Insufficiently evaluated not reviewed unknown Array 138 7464 0.0184887 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRAMEF4 Asn383His N383H not reviewed Insufficiently evaluated not reviewed unknown Array 524 7422 0.0706009 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRAMEF4 Phe380Ile F380I not reviewed Insufficiently evaluated not reviewed unknown Array 919 7430 0.123688 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRAMEF4 Phe300Val F300V not reviewed Insufficiently evaluated not reviewed unknown Array 292 7158 0.0407935 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAMEF4 Tyr229Stop Y229X not reviewed Insufficiently evaluated not reviewed unknown Array 1 6994 0.000142979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRAMEF4 Tyr165His Y165H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRAMEF4 Arg144Lys R144K not reviewed Insufficiently evaluated not reviewed unknown Array 1718 7218 0.238016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PRAMEF4 Asp85Glu D85E not reviewed Insufficiently evaluated not reviewed unknown Array 1222 10708 0.11412 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRAMEF6 Gln144Arg Q144R not reviewed Insufficiently evaluated not reviewed unknown Array 22 244 0.0901639 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - PRAMEF6 Cys124Ser C124S not reviewed Insufficiently evaluated not reviewed unknown Array 3888 7518 0.517159 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 1 N - - PRAMEF7 Val346Ala V346A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRAMEF7 Gly422Val G422V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRAMEF7 Lys438Asn K438N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF7 Pro440Leu P440L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAMEF8 Val346Ala V346A not reviewed Insufficiently evaluated not reviewed unknown Array 1976 10724 0.18426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRAMEF8 Gly422Val G422V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRAMEF8 Lys438Asn K438N not reviewed Insufficiently evaluated not reviewed unknown Array 60 9302 0.00645023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF8 Pro440Leu P440L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAMEF8 Gln181Lys Q181K not reviewed Insufficiently evaluated not reviewed unknown Array rs113549705 124 126 0.984127 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRAP1 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array rs34275172 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PRAP1 Gly81Ser G81S not reviewed Insufficiently evaluated not reviewed unknown Array rs34780987 15 128 0.117188 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 1 N - - PRAP1 His101Arg H101R not reviewed Insufficiently evaluated not reviewed unknown Array rs4369319 123 126 0.97619 52 0 101 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRAP1 His92Arg H92R not reviewed Insufficiently evaluated not reviewed unknown Array rs4369319 10649 10758 0.989868 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRAP1 Pro107Leu P107L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10756 0.00939011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - PRAP1 Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array rs34073525 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - PRB1 Ser123Ala S123A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRB1 Ser143Ala S143A not reviewed Insufficiently evaluated not reviewed unknown Array 5909 10618 0.556508 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRB1 Ser276Ala S276A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRB1 Ser212Pro S212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRB1 Pro123Gln P123Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB1 Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRB2 Pro274Ser P274S not reviewed Insufficiently evaluated not reviewed unknown Array 4531 10148 0.446492 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - PRB2 Ala235Val A235V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10750 0.00725581 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRB2 Gln233Arg Q233R not reviewed Insufficiently evaluated not reviewed unknown Array rs34305575 1941 10752 0.180525 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRB2 Arg109Gln R109Q not reviewed Insufficiently evaluated not reviewed unknown Array 3076 10758 0.285927 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRB2 Gly70Val G70V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10580 0.0073724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRB3 Pro228Gln P228Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Pro228Ser P228S not reviewed Insufficiently evaluated not reviewed unknown Array 953 6918 0.137757 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRB3 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 1 8170 0.000122399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRB3 Pro207Gln P207Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 8598 0.000930448 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Pro186Gln P186Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 9650 0.00031088 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 His179Arg H179R not reviewed Insufficiently evaluated not reviewed unknown Array rs704222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRB3 Pro165Gln P165Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Pro165Ser P165S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRB3 Pro144Gln P144Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 7034 0.001706 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Pro144Ser P144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRB3 Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 290 7802 0.03717 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PRB3 Pro123Ser P123S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRB3 Gln102Pro Q102P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Pro81Gln P81Q not reviewed Insufficiently evaluated not reviewed unknown Array 200 10610 0.0188501 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Arg60Pro R60P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10740 0.000372439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRB3 Pro53Arg P53R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - PRB3 Thr50Pro T50P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB3 Arg49Gly R49G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRB3 Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRB3 Arg40Pro R40P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10598 0.000283072 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRB4 Ala209Pro A209P not reviewed Insufficiently evaluated not reviewed unknown Array rs1052808 8334 10758 0.774679 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRB4 Arg122Gly R122G not reviewed Insufficiently evaluated not reviewed unknown Array rs11054244 1544 10758 0.143521 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRB4 Pro116His P116H not reviewed Insufficiently evaluated not reviewed unknown Array 3294 10758 0.306191 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PRB4 Thr113Pro T113P not reviewed Insufficiently evaluated not reviewed unknown Array 1957 10754 0.181979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRB4 Gln90His Q90H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRB4 Pro71Thr P71T not reviewed Insufficiently evaluated not reviewed unknown Array rs12308381 1914 10758 0.177914 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRB4 Arg39Stop R39X not reviewed Insufficiently evaluated not reviewed unknown Array rs71455375 1414 10730 0.13178 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PRC1 Tyr511Cys Y511C not reviewed Insufficiently evaluated not reviewed unknown Array rs12911192 569 10758 0.0528909 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PRC1 Ala187Glu A187E not reviewed Insufficiently evaluated not reviewed unknown Array rs7172758 10717 10758 0.996189 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRC1 His21Asp H21D not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 3 - 1 N - - PRCC Pro136Ser P136S not reviewed Insufficiently evaluated not reviewed unknown Array rs11264542 1412 10340 0.136557 11 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 1 - - PRCP Glu112Asp E112D not reviewed Insufficiently evaluated not reviewed unknown Array rs2298668 1722 10758 0.160067 23 0 24 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - PRCP Glu133Asp E133D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM1 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 480 10758 0.044618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM1 Asp203Glu D203E not reviewed Insufficiently evaluated not reviewed unknown Array 1759 10758 0.163506 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRDM1 Asp69Glu D69E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM1 Arg152Pro R152P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - PRDM1 Arg286Pro R286P not reviewed Insufficiently evaluated not reviewed unknown Array 198 10758 0.0184049 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - PRDM1 Tyr247His Y247H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRDM1 Tyr381His Y381H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRDM1 His263Pro H263P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRDM1 His397Pro H397P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRDM1 Pro688Thr P688T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM1 Pro822Thr P822T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10740 0.00148976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM10 Thr483Ala T483A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM10 Thr487Ala T487A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM10 Thr569Ala T569A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM10 Thr573Ala T573A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241571 4463 10758 0.414854 40 0 49 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRDM10 Thr59Ser T59S not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM10 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array rs11221912 1714 10758 0.159323 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRDM11 Lys200Glu K200E not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM11 Glu283Lys E283K not reviewed Insufficiently evaluated not reviewed unknown Array rs60636528 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM11 Arg285Ser R285S not reviewed Insufficiently evaluated not reviewed unknown Array rs35090414 689 10752 0.0640811 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRDM13 Gly342Trp G342W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM13 Ala421Thr A421T not reviewed Insufficiently evaluated not reviewed unknown Array 63 7400 0.00851351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM14 Lys244Glu K244E not reviewed Insufficiently evaluated not reviewed unknown Array rs3750228 1515 10758 0.140825 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - PRDM14 Gly189Glu G189E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - PRDM15 Ser1152Pro S1152P not reviewed Insufficiently evaluated not reviewed unknown Array rs3850706 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM15 Ser1481Pro S1481P not reviewed Insufficiently evaluated not reviewed unknown Array rs3850706 10705 10758 0.995073 37 0 74 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRDM15 Thr1047Ser T1047S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM15 Thr1376Ser T1376S not reviewed Insufficiently evaluated not reviewed unknown Array rs2236695 70 10758 0.00650678 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - PRDM15 Asn250Ile N250I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM15 Asn579Ile N579I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 7 Y 1 N - - PRDM15 Asn250Tyr N250Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRDM15 Asn579Tyr N579Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 5 Y 1 N - - PRDM15 Leu249Arg L249R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRDM15 Leu578Arg L578R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - PRDM15 Thr145Ile T145I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM15 Thr474Ile T474I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - PRDM15 Pro347Leu P347L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PRDM15 Pro176Ser P176S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM15 Arg114Trp R114W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM16 Ser533Pro S533P not reviewed Insufficiently evaluated not reviewed unknown Array rs870124 8673 9864 0.879258 56 0 101 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRDM16 Pro633Leu P633L not reviewed Insufficiently evaluated not reviewed unknown Array rs2493292 1576 10492 0.15021 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRDM16 Glu1153Ala E1153A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM2 Asp283Glu D283E not reviewed Insufficiently evaluated not reviewed unknown Array rs2076324 3438 10758 0.319576 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - PRDM2 Asp82Glu D82E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM2 Ala503Pro A503P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM2 Ala704Pro A704P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PRDM2 Gln198Arg Q198R not reviewed Insufficiently evaluated not reviewed unknown Array rs1046331 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM5 Ile425Val I425V not reviewed Insufficiently evaluated not reviewed unknown Array 112 10756 0.0104128 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.819 - - -4 - 1 N - - PRDM6 Pro64Ala P64A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM6 Ala259Val A259V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 2 - 0 N - - PRDM6 Ala291Thr A291T not reviewed Insufficiently evaluated not reviewed unknown Array 330 3232 0.102104 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 1 - 1 - - PRDM6 Ser588Asn S588N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - 0 - 1 N - - PRDM7 Asn435Lys N435K not reviewed Insufficiently evaluated not reviewed unknown Array rs7206111 833 10758 0.0774307 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRDM7 Thr135Lys T135K not reviewed Insufficiently evaluated not reviewed unknown Array rs7206111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM7 Arg279Stop R279X not reviewed Insufficiently evaluated not reviewed unknown Array rs74034320 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRDM7 Arg73Stop R73X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRDM7 Pro244Leu P244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM7 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM7 Arg131Lys R131K not reviewed Insufficiently evaluated not reviewed unknown Array rs2078478 1333 9652 0.138106 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PRDM7 Asp90Glu D90E not reviewed Insufficiently evaluated not reviewed unknown Array rs12925933 5281 9742 0.542086 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRDM9 Arg113Cys R113C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9746 0.000307818 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRDM9 Thr597Ser T597S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM9 Arg619Trp R619W not reviewed Insufficiently evaluated not reviewed unknown Array 1 8842 0.000113096 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM9 Thr625Ser T625S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM9 Arg629Thr R629T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM9 Arg647Trp R647W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM9 Thr653Ser T653S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM9 Arg657Thr R657T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM9 Thr681Ser T681S not reviewed Insufficiently evaluated not reviewed unknown Array rs71578786 5663 7302 0.775541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRDM9 Thr709Ser T709S not reviewed Insufficiently evaluated not reviewed unknown Array 256 9232 0.0277296 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM9 Arg737Ser R737S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10216 0.00254503 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM9 Arg758Ser R758S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10566 0.00113572 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM9 Asp759Asn D759N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRDM9 Asn790His N790H not reviewed Insufficiently evaluated not reviewed unknown Array 665 10730 0.0619758 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRDM9 Glu801Asp E801D not reviewed Insufficiently evaluated not reviewed unknown Array 275 10718 0.0256578 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM9 Glu829Asp E829D not reviewed Insufficiently evaluated not reviewed unknown Array 246 10640 0.0231203 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDX2 Arg91Trp R91W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PRDX5 Tyr33Cys Y33C not reviewed Insufficiently evaluated not reviewed unknown Array rs7938623 10032 10750 0.933209 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRELID2 Asn58Ser N58S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRELID2 Asn87Ser N87S not reviewed Insufficiently evaluated not reviewed unknown Array rs9324996 356 10758 0.0330917 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRELID2 Asn99Ser N99S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PRELP Gly33Arg G33R not reviewed Insufficiently evaluated not reviewed unknown Array rs41313926 70 10756 0.006508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 1 - 2 - - PRELP Asn348His N348H not reviewed Insufficiently evaluated not reviewed unknown Array rs9439 233 10758 0.0216583 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PREP Val706Ile V706I not reviewed Insufficiently evaluated not reviewed unknown Array rs1051484 3459 10758 0.321528 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PREPL Asn524Ser N524S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PREPL Asn528Ser N528S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PREPL Asn590Ser N590S not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - PREPL Leu313Phe L313F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - PREPL Arg131His R131H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PREX1 Ser1559Thr S1559T not reviewed Insufficiently evaluated not reviewed unknown Array rs3936192 859 10758 0.0798476 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - PREX1 Lys1340Glu K1340E not reviewed Insufficiently evaluated not reviewed unknown Array rs2664521 10363 10554 0.981903 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PREX1 Val1240Ile V1240I not reviewed Insufficiently evaluated not reviewed unknown Array rs16993997 1544 10758 0.143521 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PREX1 Ala1118Thr A1118T not reviewed Insufficiently evaluated not reviewed unknown Array rs6012504 1628 10758 0.151329 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PREX1 Gln786His Q786H not reviewed Insufficiently evaluated not reviewed unknown Array rs41283558 1543 10756 0.143455 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - PREX1 Val659Met V659M not reviewed Insufficiently evaluated not reviewed unknown Array rs55904123 1619 10758 0.150493 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PREX1 Ile639Val I639V not reviewed Insufficiently evaluated not reviewed unknown Array rs62621889 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - PREX2 Arg1394Trp R1394W not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PREX2 Ser1488Leu S1488L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753704 124 10758 0.0115263 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - PRF1 Arg4His R4H pathogenic Low clinical importance, Uncertain pathogenic dominant Array rs35418374 291 10664 0.0272881 3 0 3 2 2 1 Y - - 0 Y - - 4 - 2 - Y Y - - 0.545 Y Y 1 - Aplastic Anemia 1 74 21 1135 0.730 5 N 7 0 0 This rare variant was reported seen in an individual with acquired aplastic anemia, but the frequency of this allele in controls indicates is no different from the cases, indicating this is likely a polymorphism without dramatic functional effect. PRG2 His206Tyr H206Y not reviewed Insufficiently evaluated not reviewed unknown Array rs536455 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRG2 Thr531Ala T531A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRG2 Ile193Thr I193T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRG3 Tyr146His Y146H not reviewed Insufficiently evaluated not reviewed unknown Array rs34108746 595 10758 0.0553077 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.277 - - -1 - 1 - 1 - - PRG3 Ile109Thr I109T not reviewed Insufficiently evaluated not reviewed unknown Array rs540687 10255 10758 0.953244 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRG3 Cys3Arg C3R not reviewed Insufficiently evaluated not reviewed unknown Array rs669661 10246 10756 0.952585 55 0 105 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - PRG4 Arg139Trp R139W not reviewed Insufficiently evaluated not reviewed unknown Array rs2273779 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - PRG4 Arg180Trp R180W not reviewed Insufficiently evaluated not reviewed unknown Array rs2273779 3210 10746 0.298716 15 0 18 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 7 Y 2 - 2 - - PRG4 Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Thr145Met T145M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 - - 2 - 2 N - - PRG4 Thr197Met T197M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Thr238Met T238M not reviewed Insufficiently evaluated not reviewed unknown Array 397 10758 0.0369028 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.841 - - 2 - 1 N - - PRG4 Thr470Ala T470A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Thr511Ala T511A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Thr563Ala T563A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Thr604Ala T604A not reviewed Insufficiently evaluated not reviewed unknown Array rs61831150 3223 10756 0.299647 10 0 13 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 0 N - - PRG4 Lys488Glu K488E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Lys529Glu K529E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Lys581Glu K581E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Lys622Glu K622E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Thr491Ala T491A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Thr532Ala T532A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Thr584Ala T584A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Thr625Ala T625A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - PRG4 Cys612Ser C612S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Cys653Ser C653S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Cys705Ser C705S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Cys746Ser C746S not reviewed Insufficiently evaluated not reviewed unknown Array rs68069719 128 128 1 54 0 108 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 0 N - - PRG4 Gly675Glu G675E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - PRG4 Gly716Glu G716E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - PRG4 Gly768Glu G768E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - PRG4 Gly809Glu G809E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - PRG4 Thr687Ile T687I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Thr728Ile T728I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Thr780Ile T780I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Thr821Ile T821I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Ala772Val A772V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Ala813Val A813V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Ala865Val A865V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Ala906Val A906V not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Arg1012Cys R1012C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Arg1053Cys R1053C not reviewed Insufficiently evaluated not reviewed unknown Array rs61729245 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Arg919Cys R919C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Arg960Cys R960C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Asn1037Ser N1037S not reviewed Insufficiently evaluated not reviewed unknown Array rs10158395 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Asn1089Ser N1089S not reviewed Insufficiently evaluated not reviewed unknown Array rs10158395 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Asn1130Ser N1130S not reviewed Insufficiently evaluated not reviewed unknown Array rs10158395 586 10758 0.0544711 12 0 13 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - PRG4 Asn996Ser N996S not reviewed Insufficiently evaluated not reviewed unknown Array rs10158395 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PRG4 Thr1162Met T1162M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Thr1203Met T1203M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Thr1255Met T1255M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Thr1296Met T1296M not reviewed Insufficiently evaluated not reviewed unknown Array rs12134934 486 10758 0.0451757 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - PRG4 Val1198Asp V1198D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Val1239Asp V1239D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Val1291Asp V1291D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRG4 Val1332Asp V1332D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRH1 Arg119Cys R119C not reviewed Insufficiently evaluated not reviewed unknown Array rs61914782 1541 10546 0.146122 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRH1 Leu42Ile L42I not reviewed Insufficiently evaluated not reviewed unknown Array rs28607516 2264 10692 0.211747 34 0 55 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRH2 Asn66Asp N66D not reviewed Insufficiently evaluated not reviewed unknown Array rs1049112 264 10632 0.0248307 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRH2 Gln163Lys Q163K not reviewed Insufficiently evaluated not reviewed unknown Array rs74062407 490 10652 0.0460008 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRHOXNB Arg114Ser R114S not reviewed Insufficiently evaluated not reviewed unknown Array rs9579139 1148 6476 0.17727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - 3 - 0 N - - PRHOXNB Gln57Pro Q57P not reviewed Insufficiently evaluated not reviewed unknown Array rs3897926 3179 9696 0.327867 26 0 34 0 0 - - - - - - - - - - - - - - - - 0.033 - - 4 Y 0 N - - PRIC285 Val2072Ile V2072I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRIC285 Val2641Ile V2641I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRIC285 Thr1601Met T1601M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRIC285 Thr2170Met T2170M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRIC285 Gln1480Glu Q1480E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRIC285 Gln2049Glu Q2049E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRIC285 Pro1447Leu P1447L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRIC285 Pro2016Leu P2016L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRIC285 Thr1335Met T1335M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRIC285 Thr1904Met T1904M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRIC285 Thr1320Ala T1320A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Thr1889Ala T1889A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Leu1252Arg L1252R not reviewed Insufficiently evaluated not reviewed unknown Array rs3810486 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRIC285 Leu1821Arg L1821R not reviewed Insufficiently evaluated not reviewed unknown Array rs3810486 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRIC285 Arg1083Gln R1083Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3827022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg1652Gln R1652Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3827022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg1422Gln R1422Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg853Gln R853Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg1381Lys R1381K not reviewed Insufficiently evaluated not reviewed unknown Array rs3810487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRIC285 Arg812Lys R812K not reviewed Insufficiently evaluated not reviewed unknown Array rs3810487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRIC285 Val1308Leu V1308L not reviewed Insufficiently evaluated not reviewed unknown Array rs310631 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Val739Leu V739L not reviewed Insufficiently evaluated not reviewed unknown Array rs310631 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 His1123Arg H1123R not reviewed Insufficiently evaluated not reviewed unknown Array rs310632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 His554Arg H554R not reviewed Insufficiently evaluated not reviewed unknown Array rs310632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Ser219Asn S219N not reviewed Insufficiently evaluated not reviewed unknown Array rs438363 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Ser788Asn S788N not reviewed Insufficiently evaluated not reviewed unknown Array rs438363 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PRIC285 Arg584Gln R584Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Ala502Thr A502T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Ser338Leu S338L not reviewed Insufficiently evaluated not reviewed unknown Array rs6090457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRIC285 Ala284Val A284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRICKLE1 Glu185Stop E185X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - PRICKLE1 Val125Ala V125A not reviewed Insufficiently evaluated not reviewed unknown Array rs34837068 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 2 - 1 N - - PRIM1 Asp5Ala D5A not reviewed Insufficiently evaluated not reviewed unknown Array rs2277339 1225 9900 0.123737 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.913 - - 5 Y 1 N - - PRIM2 Glu181Lys E181K not reviewed Insufficiently evaluated not reviewed unknown Array rs5011403 62 124 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRIM2 Asp204Gly D204G not reviewed Insufficiently evaluated not reviewed unknown Array rs6913546 63 126 0.5 55 0 55 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRIM2 Ser259Gly S259G not reviewed Insufficiently evaluated not reviewed unknown Array rs927192 48 96 0.5 40 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRIM2 Leu286Pro L286P not reviewed Insufficiently evaluated not reviewed unknown Array rs80081867 4320 9800 0.440816 52 0 52 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRIM2 Tyr287Cys Y287C not reviewed Insufficiently evaluated not reviewed unknown Array rs9476080 64 128 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRIM2 His289Arg H289R not reviewed Insufficiently evaluated not reviewed unknown Array rs9476081 64 128 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRIM2 Cys302Arg C302R not reviewed Insufficiently evaluated not reviewed unknown Array rs62398997 62 124 0.5 54 0 54 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRIM2 Val310Gly V310G not reviewed Insufficiently evaluated not reviewed unknown Array rs77436138 17 80 0.2125 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRIM2 Val310Asp V310D not reviewed Insufficiently evaluated not reviewed unknown Array rs77436138 23 80 0.2875 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRIM2 Thr323Ala T323A not reviewed Insufficiently evaluated not reviewed unknown Array rs62398998 64 128 0.5 56 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRIM2 Gln325Stop Q325X not reviewed Insufficiently evaluated not reviewed unknown Array rs62398999 60 122 0.491803 52 0 52 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - PRIM2 Asp342Gly D342G not reviewed Insufficiently evaluated not reviewed unknown Array rs9885913 3664 9964 0.367724 47 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRIM2 Tyr345Cys Y345C not reviewed Insufficiently evaluated not reviewed unknown Array rs9885916 4506 9982 0.451413 48 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRIM2 Arg350Cys R350C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRIM2 Gly435Asp G435D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRIM2 His446Gln H446Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRIM2 Arg453Ser R453S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRIM2 Ser465Pro S465P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRKAA1 Met162Val M162V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRKAA1 Met177Val M177V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRKAA2 Asn152Lys N152K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - PRKAB2 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - PRKACG His268Asp H268D not reviewed Insufficiently evaluated not reviewed unknown Array rs3730386 3184 10758 0.295966 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRKAG1 Ala167Glu A167E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRKAG1 Ala251Glu A251E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PRKAG2 Gly101Arg G101R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PRKAG2 Gly145Arg G145R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.707 Y - 6 Y 2 N - - PRKAG2 Gly100Ser G100S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.569 Y - 2 - 3 - 3 - - PRKAG2 Gly56Ser G56S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PRKAG3 Arg340Trp R340W not reviewed Insufficiently evaluated not reviewed unknown Array rs33985460 452 10758 0.0420152 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.128 - - 7 Y 0 N - - PRKAG3 Leu153Val L153V not reviewed Insufficiently evaluated not reviewed unknown Array rs35050588 438 10758 0.0407139 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PRKAG3 Pro71Ala P71A not reviewed Insufficiently evaluated not reviewed unknown Array rs692243 1546 10758 0.143707 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 0 N - - PRKCA Val568Ile V568I not reviewed Insufficiently evaluated not reviewed unknown Array rs6504459 10542 10758 0.979922 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRKCDBP Leu158Pro L158P not reviewed Insufficiently evaluated not reviewed unknown Array rs1051992 5238 10736 0.487891 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRKCDBP Arg8Pro R8P not reviewed Insufficiently evaluated not reviewed unknown Array rs2682123 9687 10310 0.939573 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PRKCE Ala654Thr A654T not reviewed Insufficiently evaluated not reviewed unknown Array rs35777875 107 9226 0.0115977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PRKCG Ser687Gly S687G not reviewed Insufficiently evaluated not reviewed unknown Array 102 10756 0.00948308 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 2 - 4 N - - PRKCH Val374Ile V374I pathogenic Insufficiently evaluated pathogenic unknown Array rs2230500 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - PRKCQ Val624Met V624M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 1 N - - PRKCQ Ser479Cys S479C not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - PRKCQ Pro330Leu P330L not reviewed Insufficiently evaluated not reviewed unknown Array rs2236379 3095 10758 0.287693 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRKCSH Ala291Thr A291T not reviewed Insufficiently evaluated not reviewed unknown Array rs11557488 1709 10756 0.158888 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 2 - - PRKCSH Pro510Leu P510L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PRKCSH Pro513Leu P513L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.687 Y - 7 Y 2 N - - PRKCZ Tyr126Asp Y126D not reviewed Insufficiently evaluated not reviewed unknown Array 2180 10758 0.20264 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 1 N - - PRKD1 His891Arg H891R not reviewed Insufficiently evaluated not reviewed unknown Array rs45582934 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PRKD1 Met341Leu M341L not reviewed Insufficiently evaluated not reviewed unknown Array rs45460991 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRKD1 Ser239Leu S239L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRKD2 Val678Ala V678A not reviewed Insufficiently evaluated not reviewed unknown Array rs314665 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKD2 Val835Ala V835A not reviewed Insufficiently evaluated not reviewed unknown Array rs314665 10750 10758 0.999256 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRKD2 Ala366Val A366V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKD2 Ala523Val A523V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKD2 Gly336Ala G336A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PRKD2 Gly493Ala G493A not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.877 - - 1 - 2 N - - PRKD3 Leu445Ile L445I not reviewed Insufficiently evaluated not reviewed unknown Array rs55912911 200 10728 0.0186428 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRKD3 Arg153Ser R153S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - PRKD3 Asn42Asp N42D not reviewed Insufficiently evaluated not reviewed unknown Array rs11896614 500 10758 0.046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.565 - - -1 - 1 N - - PRKDC Ser3561Arg S3561R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRKDC Arg1253His R1253H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRKDC Met333Ile M333I not reviewed Insufficiently evaluated not reviewed unknown Array rs8178017 302 9542 0.0316495 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - PRKG1 Asp484Ala D484A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PRKG1 Asp499Ala D499A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRKG1 Asp484Glu D484E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - PRKG1 Asp499Glu D499E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRKG1 Leu485Ile L485I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - -2 - 2 N - - PRKG1 Leu500Ile L500I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - PRKRA Ile201Asn I201N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - 7 Y 1 N - - PRKRA Ile215Asn I215N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PRKRA Ile226Asn I226N not reviewed Insufficiently evaluated not reviewed unknown Array 904 10758 0.0840305 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.966 Y - 7 Y 2 N - - PRKRA Pro102Leu P102L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PRKRA Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PRKRA Pro127Leu P127L not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 4 - 1 - - PRKRA Ile105Thr I105T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 3 - 1 N - - PRKRA Ile80Thr I80T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PRKRA Ile94Thr I94T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PRKRIP1 Ser7Ala S7A not reviewed Insufficiently evaluated not reviewed unknown Array rs6951185 607 10538 0.0576011 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 2 - - PRKRIR Arg709Lys R709K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - PRKRIR His532Asn H532N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - PRKRIR Tyr462Cys Y462C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 1 - 1 - - PRKRIR Ser361Phe S361F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 5 Y 0 N - - PRKRIR Arg78Gln R78Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10756 0.00232428 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.718 - - 0 - 1 N - - PRKX Val43Ala V43A not reviewed Insufficiently evaluated not reviewed unknown Array rs3752362 4612 8326 0.553927 19 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRL Ser85Thr S85T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 1 - 5 - - PRLHR Pro305Leu P305L not reviewed Insufficiently evaluated not reviewed unknown Array rs8192524 347 10758 0.0322551 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 7 Y 2 - 4 - - PRLHR Ile283Val I283V not reviewed Insufficiently evaluated not reviewed unknown Array rs1613448 10507 10728 0.9794 18 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRLR Ile100Val I100V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228482 634 10758 0.0589329 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRM3 Arg100Gln R100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs429744 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRM3 His86Gln H86Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRMT10 Val775Ile V775I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10752 0.00102306 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - -4 - 1 N - - PRMT10 Ser483Gly S483G not reviewed Insufficiently evaluated not reviewed unknown Array rs17023638 269 10758 0.0250046 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRMT10 Ala388Gly A388G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.257 - - 1 - 1 N - - PRMT10 Glu226Lys E226K not reviewed Insufficiently evaluated not reviewed unknown Array rs73853975 527 10758 0.0489868 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.208 - - 0 - 1 N - - PRMT2 Asp206Val D206V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PRMT3 Ser431Asn S431N not reviewed Insufficiently evaluated not reviewed unknown Array rs6483700 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRMT3 Ser446Asn S446N not reviewed Insufficiently evaluated not reviewed unknown Array rs6483700 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PRMT3 Ser508Asn S508N not reviewed Insufficiently evaluated not reviewed unknown Array rs6483700 10757 10758 0.999907 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRMT3 Lys433Arg K433R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRMT3 Lys448Arg K448R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRMT3 Lys510Arg K510R not reviewed Insufficiently evaluated not reviewed unknown Array 680 10758 0.0632088 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.899 - - -3 - 1 N - - PRMT6 Ala194Val A194V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232016 1517 10006 0.151609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRND Thr174Met T174M not reviewed Insufficiently evaluated not reviewed unknown Array rs2245220 5798 10750 0.539349 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRNP Met129Val M129V protective Low clinical importance, protective other Array rs1799990 3653 10758 0.339561 24 0 28 2 2 3 Y - - 5 Y - - 4 - 1 - Y Y Y Y 0.628 Y Y 0 - 4 Y 9 0 2 This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. PRNP Glu219Lys E219K protective Low clinical importance, Uncertain protective other Array 0 0 0 3 2 1 Y 1 Y 5 Y 0 - 1 Y - - Y Y - - - Y Y 0 - 5 N 10 0 0 Protection from sporadic Creutzfeldt-Jakob disease, possibly only in the heterozygous form. PROCR Ser219Gly S219G not reviewed Insufficiently evaluated not reviewed unknown Array rs867186 1071 10758 0.0995538 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.588 - - 2 - 0 N - - PRODH Leu581Val L581V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PRODH Arg521Gln R521Q not reviewed Insufficiently evaluated not reviewed unknown Array rs450046 9713 10744 0.904039 56 0 99 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - PRODH Arg431His R431H pathogenic Insufficiently evaluated pathogenic recessive Array rs2904552 858 10752 0.0797991 3 0 3 2 2 2 Y 1 Y 0 Y 0 Y 1 Y 0 - Y Y - - - Y - 1 - Hyperprolinemia, Type I 9 54 12 56 0.778 3 N 9 - - This variant is associated with type I hyperprolinemia and leads to a reduction of POX activity to 60% of wildtype. PRODH Thr275Asn T275N not reviewed Insufficiently evaluated not reviewed unknown Array rs5747933 338 10758 0.0314185 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 2 - - PRODH Trp185Arg W185R not reviewed Insufficiently evaluated not reviewed unknown Array rs4819756 7265 10758 0.675311 43 0 73 0 0 3 Y - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - PRODH Pro30Ser P30S not reviewed Insufficiently evaluated not reviewed unknown Array 320 3286 0.0973828 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 2 - - PRODH Pro19Gln P19Q not reviewed Insufficiently evaluated not reviewed unknown Array 1364 3958 0.344618 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 - 1 - - PRODH2 Asn276Ser N276S not reviewed Insufficiently evaluated not reviewed unknown Array rs73594420 953 10338 0.0921842 12 0 13 0 0 - - - - - - - - - - - - Y - - - 0.153 Y - 0 - 1 N - - PRODH2 Pro91Arg P91R not reviewed Insufficiently evaluated not reviewed unknown Array rs3848666 1287 10758 0.119632 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.243 Y - 5 Y 2 - 1 - - PROK1 Arg48Trp R48W not reviewed Insufficiently evaluated not reviewed unknown Array rs62623571 244 10758 0.0226808 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PROK1 Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array rs7514102 4359 10758 0.405187 37 0 48 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PROK2 Pro111Gln P111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60239864 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 4 Y 4 N - - PROK2 Pro90Gln P90Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PROKR1 Ser40Gly S40G not reviewed Insufficiently evaluated not reviewed unknown Array rs7570797 22 128 0.171875 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PROKR1 Ile379Val I379V not reviewed Insufficiently evaluated not reviewed unknown Array rs34715748 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PROKR2 Arg268Cys R268C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 8 Y 5 - 8 - - PROM2 Arg315His R315H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10750 0.00260465 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PROM2 Gln508Arg Q508R not reviewed Insufficiently evaluated not reviewed unknown Array rs12992066 8606 10758 0.799963 45 0 77 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PROM2 Gly513Ser G513S not reviewed Insufficiently evaluated not reviewed unknown Array rs72819488 1085 10758 0.100855 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 0 N - - PROM2 Arg807Cys R807C not reviewed Insufficiently evaluated not reviewed unknown Array rs35884217 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - PROP1 Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array rs1800197 2566 10756 0.238565 21 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 5 - - PROP1 Asn20Ser N20S not reviewed Insufficiently evaluated not reviewed unknown Array rs7445271 10752 10756 0.999628 47 0 94 1 1 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - PROS1 Pro76Leu P76L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - PROX2 Cys540Trp C540W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PROX2 Asp189Asn D189N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - PROZ Arg295His R295H not reviewed Insufficiently evaluated not reviewed unknown Array rs3024772 274 10758 0.0254694 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.884 - - 1 - 3 - 5 - - PRPF19 Arg93Pro R93P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PRPF40B Thr849Ala T849A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRPF40B Thr862Ala T862A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - PRPF4B Ile83Val I83V not reviewed Insufficiently evaluated not reviewed unknown Array rs9503893 7499 10758 0.697063 52 0 76 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRPF8 Ser2057Phe S2057F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - PRPH2 Asp338Gly D338G not reviewed Insufficiently evaluated not reviewed unknown Array rs434102 8325 10758 0.773843 49 0 73 0 0 1 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 - 1 - - PRPH2 Arg310Lys R310K not reviewed Insufficiently evaluated not reviewed unknown Array rs425876 10014 10758 0.930842 56 0 103 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 2 - - PRPH2 Gln304Glu Q304E not reviewed Insufficiently evaluated not reviewed unknown Array rs390659 8329 10758 0.774215 51 0 77 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 1 - - PRPS1L1 Glu279Asp E279D not reviewed Insufficiently evaluated not reviewed unknown Array rs3800962 3828 10754 0.355961 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRPS1L1 Arg196Gln R196Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.408 - - 0 - 1 N - - PRR12 Arg997Gln R997Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR12 His1334Arg H1334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR14 Pro359Leu P359L not reviewed Insufficiently evaluated not reviewed unknown Array rs3747481 3337 10744 0.310592 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - PRR14 Thr397Ala T397A not reviewed Insufficiently evaluated not reviewed unknown Array rs73536441 306 10708 0.0285768 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR15 Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.242 - - 0 - 1 N - - PRR15 Pro115Ser P115S not reviewed Insufficiently evaluated not reviewed unknown Array rs10271996 4085 10666 0.382993 37 0 48 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - PRR15 Pro124His P124H not reviewed Insufficiently evaluated not reviewed unknown Array 538 10614 0.0506878 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 - 1 - - PRR16 Val25Gly V25G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRR16 Pro87Thr P87T not reviewed Insufficiently evaluated not reviewed unknown Array rs17853861 1368 10758 0.127161 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRR16 Thr120Ala T120A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR18 Cys136Ser C136S not reviewed Insufficiently evaluated not reviewed unknown Array rs7757150 8079 10254 0.787888 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRR19 Ala189Val A189V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PRR21 Ser380Ala S380A not reviewed Insufficiently evaluated not reviewed unknown Array rs6728493 43 122 0.352459 31 0 46 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PRR21 Lys342Met K342M not reviewed Insufficiently evaluated not reviewed unknown Array rs6732185 55 88 0.625 27 0 44 0 0 - - - - - - - - - - - - - - - - 0.235 - - 4 Y 0 N - - PRR21 Met314Thr M314T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - PRR21 Cys305Arg C305R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - PRR21 Met286Thr M286T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - PRR21 Cys277Arg C277R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - PRR21 Leu266Ile L266I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - PRR21 Leu266Val L266V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PRR21 Arg263Trp R263W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - PRR21 Cys249Arg C249R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRR21 Arg247Pro R247P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRR21 Cys221Trp C221W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRR21 Pro219His P219H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRR21 Thr216Met T216M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR21 Met202Thr M202T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR21 Cys193Arg C193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRR21 Pro159Ser P159S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRR21 Leu154Val L154V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 0 - 0 N - - PRR21 Met118Thr M118T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 2 N - - PRR21 Cys109Arg C109R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - PRR21 Arg95Leu R95L not reviewed Insufficiently evaluated not reviewed unknown Array rs72993513 3 60 0.05 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - PRR21 Met90Thr M90T not reviewed Insufficiently evaluated not reviewed unknown Array 2 54 0.037037 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - PRR21 Ser86Gly S86G not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - PRR21 Ser77Ala S77A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - -1 - 0 N - - PRR21 Met76Thr M76T not reviewed Insufficiently evaluated not reviewed unknown Array rs73107451 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 2 N - - PRR21 Cys67Arg C67R not reviewed Insufficiently evaluated not reviewed unknown Array rs73107452 1 62 0.016129 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 8 Y 1 N - - PRR21 Ser61Pro S61P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - PRR21 Gly58Ser G58S not reviewed Insufficiently evaluated not reviewed unknown Array rs10439373 29 64 0.453125 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 1 N - - PRR21 Arg53Trp R53W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - PRR21 Met48Thr M48T not reviewed Insufficiently evaluated not reviewed unknown Array rs62184587 1 62 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - 2 - 2 N - - PRR21 Ile42Thr I42T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - PRR3 Gly40Ser G40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR3 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array rs3888778 181 6460 0.0280186 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - PRR3 Arg66Trp R66W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - PRR3 Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array 31 6512 0.00476044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 3 - 2 - - PRR4 Gln120Arg Q120R not reviewed Insufficiently evaluated not reviewed unknown Array rs1047699 7146 10026 0.712747 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRR4 Gln133Arg Q133R not reviewed Insufficiently evaluated not reviewed unknown Array rs1047699 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR4 Arg109Gln R109Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1063193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR4 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1063193 4631 10126 0.457338 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRR5 Asn39Thr N39T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR5 Asn48Thr N48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR5 Val148Met V148M not reviewed Insufficiently evaluated not reviewed unknown Array rs36082900 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array rs36082900 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Val243Met V243M not reviewed Insufficiently evaluated not reviewed unknown Array rs36082900 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Glu282Lys E282K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Glu291Lys E291K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5L Ala41Thr A41T not reviewed Insufficiently evaluated not reviewed unknown Array rs330261 8795 10758 0.817531 49 0 87 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 1 N - - PRR5L Thr139Ala T139A not reviewed Insufficiently evaluated not reviewed unknown Array rs62621409 294 10758 0.0273285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - PRR5L Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PRR5L Pro202Ser P202S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRR5L Pro330Ser P330S not reviewed Insufficiently evaluated not reviewed unknown Array rs11033639 628 10756 0.058386 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PRRG2 Gly116Cys G116C not reviewed Insufficiently evaluated not reviewed unknown Array rs2288920 2845 10740 0.264898 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRRG2 Thr177Ser T177S not reviewed Insufficiently evaluated not reviewed unknown Array 387 7060 0.0548159 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.897 - - -2 - 1 N - - PRRG3 Asn153Ser N153S not reviewed Insufficiently evaluated not reviewed unknown Array rs4323608 7873 8760 0.898744 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRRG4 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array rs61889489 658 10758 0.0611638 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PRRG4 Glu33Lys E33K not reviewed Insufficiently evaluated not reviewed unknown Array rs33962176 1111 10758 0.103272 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PRRG4 Pro176Gln P176Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34139105 818 10758 0.0760364 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.78 - - 4 Y 0 N - - PRRT2 Pro138Ala P138A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.151 - - 2 - 0 N - - PRRT2 Asp147His D147H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRRT3 Asn811Ser N811S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9790 0.000102145 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - PRRT3 Arg334Gly R334G not reviewed Insufficiently evaluated not reviewed unknown Array rs59465469 3807 9864 0.385949 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRRT3 Leu233Phe L233F not reviewed Insufficiently evaluated not reviewed unknown Array rs55847233 4204 10668 0.394076 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRRT3 Ser213Pro S213P not reviewed Insufficiently evaluated not reviewed unknown Array rs55847610 3996 10418 0.383567 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRRT3 Gln138Glu Q138E not reviewed Insufficiently evaluated not reviewed unknown Array rs279601 9975 10170 0.980826 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRRT3 Ser124Phe S124F not reviewed Insufficiently evaluated not reviewed unknown Array rs73118392 488 10172 0.0479748 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 1 N - - PRRT3 Gly98Trp G98W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - PRRX1 Arg62Gln R62Q not reviewed Insufficiently evaluated not reviewed unknown Array 143 10750 0.0133023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - PRRX1 Ser104Gly S104G not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 2 - 1 N - - PRSS12 Arg833Gln R833Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17594503 503 10758 0.0467559 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - PRSS12 Ala606Ser A606S not reviewed Insufficiently evaluated not reviewed unknown Array rs28661939 1502 10758 0.139617 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PRSS12 Gly175Asp G175D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.109 - - 4 Y 0 N - - PRSS12 Pro147Leu P147L not reviewed Insufficiently evaluated not reviewed unknown Array rs72903215 21 10740 0.00195531 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PRSS12 Arg55Thr R55T not reviewed Insufficiently evaluated not reviewed unknown Array 5632 10124 0.556302 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PRSS16 Ser104Ile S104I not reviewed Insufficiently evaluated not reviewed unknown Array rs5030965 783 10758 0.072783 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.487 - - 5 Y 0 N - - PRSS2 Thr8Ile T8I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRSS22 Gly53Val G53V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - PRSS23 Phe150Tyr F150Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - PRSS27 Glu200Lys E200K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.915 - - 0 - 2 N - - PRSS27 Thr154Met T154M not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.188 - - 2 - 0 N - - PRSS3 Arg29Lys R29K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRSS3 Val25Ile V25I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRSS3 Val82Ile V82I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.269 - - -4 - 1 N - - PRSS3 Thr131Ala T131A not reviewed Insufficiently evaluated not reviewed unknown Array rs855581 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS3 Thr188Ala T188A not reviewed Insufficiently evaluated not reviewed unknown Array rs855581 10008 10758 0.930284 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRSS33 Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array rs7202954 564 6952 0.0811277 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRSS35 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs504593 9939 10758 0.923871 54 0 103 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PRSS36 Arg761Lys R761K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729752 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - PRSS36 Gly74Arg G74R not reviewed Insufficiently evaluated not reviewed unknown Array 55 10690 0.005145 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRSS7 Ala913Val A913V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRSS7 Tyr828Cys Y828C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - PRSS7 Pro732Ser P732S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRSS7 Val602Ile V602I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRSS7 Glu134Gln E134Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRSS7 Lys77Arg K77R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRSSL1 Ala153Val A153V not reviewed Insufficiently evaluated not reviewed unknown Array rs72618588 634 10746 0.0589987 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PRSSL1 Pro143Leu P143L not reviewed Insufficiently evaluated not reviewed unknown Array rs8102982 10674 10738 0.99404 52 0 103 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRTG Ile1062Leu I1062L not reviewed Insufficiently evaluated not reviewed unknown Array rs1438914 766 9440 0.0811441 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - PRTG Val826Leu V826L not reviewed Insufficiently evaluated not reviewed unknown Array rs10518816 263 9740 0.0270021 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - PRTG Thr246Arg T246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 3 - 0 N - - PRTG Thr236Ala T236A not reviewed Insufficiently evaluated not reviewed unknown Array rs16976466 1451 9648 0.150394 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PRTG Pro13Ser P13S not reviewed Insufficiently evaluated not reviewed unknown Array 26 6696 0.00388292 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PRTN3 Val119Ile V119I not reviewed Insufficiently evaluated not reviewed unknown Array rs351111 4863 10752 0.452288 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - PRUNE Cys135Tyr C135Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56805474 361 10758 0.0335564 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRUNE Gly397Ser G397S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRUNE2 Asn2721Ser N2721S not reviewed Insufficiently evaluated not reviewed unknown Array rs4745571 1060 7820 0.13555 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - PRUNE2 Ser2618Gly S2618G not reviewed Insufficiently evaluated not reviewed unknown Array rs561970 5833 7820 0.745908 54 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRUNE2 Pro2520Ser P2520S not reviewed Insufficiently evaluated not reviewed unknown Array rs73650279 123 7820 0.0157289 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRUNE2 Ser2511Pro S2511P not reviewed Insufficiently evaluated not reviewed unknown Array rs620552 5826 7820 0.745013 54 0 88 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRUNE2 Leu2365Phe L2365F not reviewed Insufficiently evaluated not reviewed unknown Array rs3739524 1489 7820 0.190409 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRUNE2 Ala2184Thr A2184T not reviewed Insufficiently evaluated not reviewed unknown Array rs512110 5931 7820 0.75844 55 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRUNE2 Gln2115Glu Q2115E not reviewed Insufficiently evaluated not reviewed unknown Array rs2077181 1113 7820 0.142327 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRUNE2 Thr1972Ala T1972A not reviewed Insufficiently evaluated not reviewed unknown Array rs517634 5851 7820 0.74821 54 0 87 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRUNE2 His1708Asn H1708N not reviewed Insufficiently evaluated not reviewed unknown Array rs683866 4347 7820 0.555882 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRUNE2 Ala1545Val A1545V not reviewed Insufficiently evaluated not reviewed unknown Array 21 7820 0.00268542 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRUNE2 Cys1506Arg C1506R not reviewed Insufficiently evaluated not reviewed unknown Array rs680775 5847 7820 0.747698 52 0 89 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRUNE2 Thr1004Met T1004M not reviewed Insufficiently evaluated not reviewed unknown Array rs530978 3976 7820 0.50844 34 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRUNE2 Lys928Glu K928E not reviewed Insufficiently evaluated not reviewed unknown Array rs41289953 298 7820 0.0381074 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRUNE2 Asn817Asp N817D not reviewed Insufficiently evaluated not reviewed unknown Array rs557352 4195 7820 0.536445 38 0 56 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRUNE2 Met745Ile M745I not reviewed Insufficiently evaluated not reviewed unknown Array rs11145017 1110 7820 0.141944 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRX Gly1132Arg G1132R not reviewed Insufficiently evaluated not reviewed unknown Array rs268674 10279 10758 0.955475 55 0 106 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 2 - - PRX Pro1083Arg P1083R not reviewed Insufficiently evaluated not reviewed unknown Array rs3745202 1403 10758 0.130415 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.793 Y Y 5 Y 3 - 8 - - PRX Glu1073Gly E1073G not reviewed Insufficiently evaluated not reviewed unknown Array rs61733451 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.27 Y Y 6 Y 3 N - - PRX Ile921Met I921M not reviewed Insufficiently evaluated not reviewed unknown Array rs268673 3917 10758 0.364101 24 0 31 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 6 - - PRX Val882Ala V882A not reviewed Insufficiently evaluated not reviewed unknown Array rs268671 6547 10758 0.60857 41 0 59 0 0 4 Y - - - - - - - - - - Y - - - 0.014 Y Y 2 - 3 - 2 - - PRX Ala406Thr A406T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 1 - 3 - 7 - - PRX Pro351Ser P351S not reviewed Insufficiently evaluated not reviewed unknown Array rs73933276 242 10742 0.0225284 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.679 Y Y 3 - 3 N - - PRX Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10050 0.00318408 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.545 Y Y 1 - 3 N - - PSAPL1 Cys476Phe C476F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSAPL1 Ala471Val A471V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSAPL1 Ile434Thr I434T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSAPL1 Thr388Met T388M not reviewed Insufficiently evaluated not reviewed unknown Array rs6843370 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSAPL1 Thr299Met T299M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSAPL1 Thr270Met T270M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSAPL1 Ala17Pro A17P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSCA Thr1Met T1M not reviewed Insufficiently evaluated not reviewed unknown Array rs2294008 4182 10002 0.418116 30 0 40 0 0 - - - - - - - - - - - - - - Y - - - - 2 - 1 N - - PSD3 Ala301Thr A301T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSD3 Ala835Thr A835T not reviewed Insufficiently evaluated not reviewed unknown Array rs10094973 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSD3 Gly349Val G349V not reviewed Insufficiently evaluated not reviewed unknown Array 110 10162 0.0108246 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PSD3 Pro293Leu P293L not reviewed Insufficiently evaluated not reviewed unknown Array rs13263453 1352 9966 0.135661 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - PSD3 Thr186Met T186M not reviewed Insufficiently evaluated not reviewed unknown Array rs59018241 4213 9608 0.438489 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - PSD3 Thr186Pro T186P not reviewed Insufficiently evaluated not reviewed unknown Array rs7003060 2660 9610 0.276795 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PSD3 Ala140Val A140V not reviewed Insufficiently evaluated not reviewed unknown Array rs59099976 34 9674 0.00351458 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - PSD4 Gly83Arg G83R not reviewed Insufficiently evaluated not reviewed unknown Array rs1562277 477 10758 0.0443391 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSD4 Gly197Arg G197R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 6 Y 1 N - - PSD4 Ser233Pro S233P not reviewed Insufficiently evaluated not reviewed unknown Array rs12472091 257 10758 0.0238892 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - PSD4 Gly269Ala G269A not reviewed Insufficiently evaluated not reviewed unknown Array rs4849167 4761 10758 0.442554 45 0 57 0 0 - - - - - - - - - - - - - - - - 0.656 - - 1 - 0 N - - PSD4 Lys701Asn K701N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - PSEN2 Arg62His R62H not reviewed Insufficiently evaluated not reviewed unknown Array rs58973334 156 10758 0.0145008 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - PSG1 Ile319Val I319V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PSG1 Leu30Pro L30P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSG1 Arg12His R12H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PSG11 Asn142Asp N142D not reviewed Insufficiently evaluated not reviewed unknown Array rs10414166 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG11 Asn264Asp N264D not reviewed Insufficiently evaluated not reviewed unknown Array rs10414166 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG11 Ser103Pro S103P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG11 Val101Ala V101A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSG11 Val83Ile V83I not reviewed Insufficiently evaluated not reviewed unknown Array rs2471952 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PSG11 Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG2 Arg304His R304H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSG2 Leu236Phe L236F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG2 Ser186Asn S186N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG2 Gln179Leu Q179L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSG2 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG3 Ser405Ile S405I not reviewed Insufficiently evaluated not reviewed unknown Array 419 10758 0.0389478 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - PSG3 Met189Val M189V not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PSG3 Leu30Ser L30S not reviewed Insufficiently evaluated not reviewed unknown Array rs12185496 5659 10756 0.526125 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PSG3 Leu23Ser L23S not reviewed Insufficiently evaluated not reviewed unknown Array rs11559136 6674 10750 0.620837 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PSG3 Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array rs11880551 2002 7520 0.266223 14 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSG4 Pro242Arg P242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - PSG4 Pro335Arg P335R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSG4 Val286Ala V286A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - PSG4 Lys267Glu K267E not reviewed Insufficiently evaluated not reviewed unknown Array rs1058718 92 126 0.730159 43 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSG4 Ser240Pro S240P not reviewed Insufficiently evaluated not reviewed unknown Array rs3859474 67 120 0.558333 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PSG4 Ser177Arg S177R not reviewed Insufficiently evaluated not reviewed unknown Array rs73548061 3 118 0.0254237 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG4 His123Leu H123L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSG4 Leu75Val L75V not reviewed Insufficiently evaluated not reviewed unknown Array rs3170216 21 120 0.175 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSG4 Arg12Leu R12L not reviewed Insufficiently evaluated not reviewed unknown Array rs11883277 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSG4 Gln11His Q11H not reviewed Insufficiently evaluated not reviewed unknown Array rs11883278 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG5 Phe279Ser F279S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10748 0.00716412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.342 - - 5 Y 1 N - - PSG5 Thr232Ser T232S not reviewed Insufficiently evaluated not reviewed unknown Array rs1135901 2552 10746 0.237484 20 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PSG5 Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array rs1058285 7206 10746 0.670575 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PSG5 Arg195Gln R195Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17856402 1896 10702 0.177163 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - PSG5 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array rs5013158 78 10750 0.00725581 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.095 - - 3 - 1 - 2 - - PSG5 Asn154Lys N154K not reviewed Insufficiently evaluated not reviewed unknown Array rs1058259 2551 10748 0.237346 18 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PSG5 Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array rs8107936 6932 10744 0.645197 32 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSG6 Glu362Gln E362Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PSG6 Gly316Ser G316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSG6 Met188Arg M188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSG6 Pro157Arg P157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSG6 Val100Ala V100A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSG6 Arg97Stop R97X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PSG6 His85Asp H85D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG7 Ile337Phe I337F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSG7 His65Tyr H65Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7245978 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG8 Ser253Pro S253P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PSG8 Ser375Pro S375P not reviewed Insufficiently evaluated not reviewed unknown Array rs1058779 47 10756 0.00436965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PSG8 Gln193Pro Q193P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSG8 Gln315Pro Q315P not reviewed Insufficiently evaluated not reviewed unknown Array rs11879884 549 10754 0.0510508 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PSG8 Asn126Ser N126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG8 Asn248Ser N248S not reviewed Insufficiently evaluated not reviewed unknown Array 125 10756 0.0116214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PSG8 Gln114Arg Q114R not reviewed Insufficiently evaluated not reviewed unknown Array rs77134863 373 10756 0.0346783 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG8 Ile88Arg I88R not reviewed Insufficiently evaluated not reviewed unknown Array 1904 10756 0.177017 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PSG8 Gly86Ser G86S not reviewed Insufficiently evaluated not reviewed unknown Array 755 10756 0.0701934 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PSG8 Ile38Thr I38T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10756 0.0052064 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PSG8 Thr10Ile T10I not reviewed Insufficiently evaluated not reviewed unknown Array 2668 7524 0.354599 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 - 1 - - PSG9 Arg313Gln R313Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12977717 1743 10612 0.164248 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - PSG9 Gly285Arg G285R not reviewed Insufficiently evaluated not reviewed unknown Array rs2355447 325 10610 0.0306315 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSG9 Arg127Stop R127X not reviewed Insufficiently evaluated not reviewed unknown Array rs60850122 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - PSG9 Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array rs8101191 1194 10758 0.110987 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSG9 Leu4Phe L4F not reviewed Insufficiently evaluated not reviewed unknown Array rs73037706 758 10758 0.0704592 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSKH2 Ile336Val I336V not reviewed Insufficiently evaluated not reviewed unknown Array rs16876805 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.931 - - -4 - 2 N - - PSKH2 Ala176Ser A176S not reviewed Insufficiently evaluated not reviewed unknown Array rs6998760 37 128 0.289062 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PSKH2 Gln132Arg Q132R not reviewed Insufficiently evaluated not reviewed unknown Array rs16879427 18 128 0.140625 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSMB1 Pro11Ala P11A not reviewed Insufficiently evaluated not reviewed unknown Array rs12717 3831 10756 0.356173 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PSMB11 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array rs34457782 50 10614 0.00471076 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 3 - 2 - - PSMB3 Met34Leu M34L not reviewed Insufficiently evaluated not reviewed unknown Array rs4907 862 10758 0.0801264 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - PSMB4 Ile234Thr I234T not reviewed Insufficiently evaluated not reviewed unknown Array rs4603 1540 10758 0.143149 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.336 - - 3 - 0 N - - PSMB5 Arg24Cys R24C not reviewed Insufficiently evaluated not reviewed unknown Array rs11543947 719 10758 0.066834 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 1 N - - PSMB6 Pro107Ala P107A not reviewed Insufficiently evaluated not reviewed unknown Array rs2304974 87 10758 0.008087 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PSMB7 Val39Ala V39A not reviewed Insufficiently evaluated not reviewed unknown Array rs4574 5337 10758 0.496096 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PSMB8 Gln49Lys Q49K not reviewed Insufficiently evaluated not reviewed unknown Array rs2071543 952 7516 0.126663 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 7 - - PSMB9 Val37Gly V37G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PSMB9 Val47Gly V47G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PSMB9 Arg50His R50H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSMB9 Arg60His R60H not reviewed Insufficiently evaluated not reviewed unknown Array rs17587 29 126 0.230159 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PSMC3IP Tyr151Asn Y151N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSMC3IP Tyr163Asn Y163N not reviewed Insufficiently evaluated not reviewed unknown Array rs2292754 389 10758 0.0361591 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.04 - - 5 Y 0 N - - PSMD1 Glu164Ala E164A not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - PSMD1 Pro886Ser P886S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.861 - - 3 - 2 N - - PSMD12 Lys335Arg K335R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PSMD12 Lys355Arg K355R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -3 - 0 N - - PSMD13 Asn13Ser N13S not reviewed Insufficiently evaluated not reviewed unknown Array rs1045288 8525 10758 0.792434 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSMD13 Glu54Gly E54G not reviewed Insufficiently evaluated not reviewed unknown Array rs10902112 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSMD13 Asn55Asp N55D not reviewed Insufficiently evaluated not reviewed unknown Array rs7107362 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSMD13 Cys57Tyr C57Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSMD13 Arg62Trp R62W not reviewed Insufficiently evaluated not reviewed unknown Array rs7116130 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSMD13 Ala66Thr A66T not reviewed Insufficiently evaluated not reviewed unknown Array rs7128029 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSMD2 Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array rs11545172 385 10758 0.0357873 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSMD2 Glu313Asp E313D not reviewed Insufficiently evaluated not reviewed unknown Array rs11545169 1247 10758 0.115914 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PSMD5 Glu21Gly E21G not reviewed Insufficiently evaluated not reviewed unknown Array rs2297575 41 10714 0.00382677 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSMD5 Ala17Ser A17S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10708 0.00308181 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSMD9 Val17Ala V17A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230681 9241 10740 0.860428 43 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PSMD9 Ser46Arg S46R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSMD9 Val67Leu V67L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSMD9 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array rs2291116 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - PSMD9 Arg134Trp R134W not reviewed Insufficiently evaluated not reviewed unknown Array rs1177573 454 10758 0.0422012 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSMD9 Glu197Gly E197G not reviewed Insufficiently evaluated not reviewed unknown Array rs14259 2286 10758 0.212493 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PSME2 His89Pro H89P not reviewed Insufficiently evaluated not reviewed unknown Array rs7146672 10678 10758 0.992564 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PSME4 Ser1371Thr S1371T not reviewed Insufficiently evaluated not reviewed unknown Array rs805408 2876 10758 0.267336 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PSME4 Ile872Val I872V not reviewed Insufficiently evaluated not reviewed unknown Array 385 10744 0.035834 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - PSMF1 Phe36Cys F36C not reviewed Insufficiently evaluated not reviewed unknown Array rs1803415 8822 10758 0.820041 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PSMF1 His174Arg H174R not reviewed Insufficiently evaluated not reviewed unknown Array rs2235587 1192 10758 0.110801 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - PSMG2 Arg180His R180H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PSMG4 Trp99Arg W99R not reviewed Insufficiently evaluated not reviewed unknown Array rs4959786 2311 3234 0.714595 40 0 65 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PSMG4 Gly104Arg G104R not reviewed Insufficiently evaluated not reviewed unknown Array rs4959787 2299 3234 0.710884 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PSMG4 Leu112Phe L112F not reviewed Insufficiently evaluated not reviewed unknown Array rs4959788 1456 3234 0.450216 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSMG4 Leu112Pro L112P not reviewed Insufficiently evaluated not reviewed unknown Array rs4959789 1609 3234 0.497526 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PSORS1C1 Pro24Thr P24T not reviewed Insufficiently evaluated not reviewed unknown Array rs1265097 866 7524 0.115098 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PSORS1C1 Glu34Lys E34K not reviewed Insufficiently evaluated not reviewed unknown Array rs1265096 345 7524 0.0458533 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - PSORS1C1 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs9263726 1105 7524 0.146863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PSORS1C1 Pro43Ser P43S not reviewed Insufficiently evaluated not reviewed unknown Array rs9501057 497 7524 0.0660553 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PSORS1C1 Pro133Leu P133L not reviewed Insufficiently evaluated not reviewed unknown Array rs1063646 1252 7524 0.166401 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PSORS1C2 Pro84Ser P84S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSORS1C2 Leu83Pro L83P not reviewed Insufficiently evaluated not reviewed unknown Array rs2233952 6792 7390 0.91908 54 0 101 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PSPC1 Met492Val M492V not reviewed Insufficiently evaluated not reviewed unknown Array 4330 9922 0.436404 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 1 N - - PSPH Val217Ala V217A not reviewed Insufficiently evaluated not reviewed unknown Array rs73343752 91 10758 0.00845882 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSPH Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 1437 10758 0.133575 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PSPH Arg27Ser R27S not reviewed Insufficiently evaluated not reviewed unknown Array 1873 10758 0.174103 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PSRC1 Leu309Pro L309P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 7 Y 0 N - - PSRC1 Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PSRC1 Arg312Gln R312Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 0 - 3 - 2 - - PSTK Gly206Arg G206R not reviewed Insufficiently evaluated not reviewed unknown Array rs3736582 7366 10758 0.6847 46 0 67 0 0 - - - - - - - - - - - - - - - - 0.019 - - 6 Y 0 N - - PSTPIP1 Gly258Ala G258A not reviewed Insufficiently evaluated not reviewed unknown Array rs34240327 112 10372 0.0107983 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 1 N - - PSTPIP2 Asn322Asp N322D not reviewed Insufficiently evaluated not reviewed unknown Array rs2276199 2833 10758 0.263339 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTAFR Ala224Asp A224D not reviewed Insufficiently evaluated not reviewed unknown Array rs5938 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 5 Y 1 - 7 - - PTCD1 Asp336Tyr D336Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PTCD2 Ile335Val I335V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PTCD3 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array rs13393659 484 10758 0.0449898 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - PTCD3 Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - PTCD3 Asn243Lys N243K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.78 - - 1 - 1 N - - PTCD3 Ser681Gly S681G not reviewed Insufficiently evaluated not reviewed unknown Array rs2241433 12 10758 0.00111545 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTCH1 Pro1164Leu P1164L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PTCH1 Pro1249Leu P1249L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PTCH1 Pro1314Leu P1314L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.091 Y Y 7 Y 2 N - - PTCH1 Pro1315Leu P1315L benign Low clinical importance, Uncertain benign unknown Array rs357564 3100 10462 0.29631 33 0 42 1 1 ! Y - - 5 Y - - - - - - Y - - - 0.999 Y Y 7 Y 4 Y 0 0 Common polymorphism, presumed benign. PTCH1 Pro1131Leu P1131L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PTCH1 Pro1216Leu P1216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PTCH1 Pro1281Leu P1281L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PTCH1 Pro1282Leu P1282L not reviewed Insufficiently evaluated not reviewed unknown Array rs2227968 87 10582 0.00822151 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 7 Y 3 - 2 - - PTCH1 Thr1044Ser T1044S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PTCH1 Thr1129Ser T1129S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PTCH1 Thr1194Ser T1194S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PTCH1 Thr1195Ser T1195S not reviewed Insufficiently evaluated not reviewed unknown Array rs2236405 436 10610 0.0410933 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y -2 - 3 - 5 - - 94 chromosomes studied, and found 4% het for this variant. Concluded that it is a benign polymorphism as of 9/2003. PTCH2 Thr988Met T988M not reviewed Insufficiently evaluated not reviewed unknown Array rs11573590 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 - 6 - - PTCH2 Arg811His R811H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - PTCH2 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - PTCHD2 Gly39Arg G39R not reviewed Insufficiently evaluated not reviewed unknown Array rs41274528 1438 9630 0.149325 17 0 23 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - PTCHD2 Ala52Val A52V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744896 14 9732 0.00143855 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTCHD2 Thr147Met T147M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736678 68 10010 0.00679321 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PTCHD2 Gly182Ser G182S not reviewed Insufficiently evaluated not reviewed unknown Array rs2817580 4894 9744 0.502258 29 0 42 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PTCHD2 Ala431Thr A431T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - 1 - 0 N - - PTCHD2 Ala650Thr A650T not reviewed Insufficiently evaluated not reviewed unknown Array rs2072994 4596 10106 0.454779 25 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PTCHD2 Gly661Ala G661A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072993 1367 10144 0.134759 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - PTCHD2 Ala851Val A851V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750329 147 10134 0.0145056 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - PTCHD3 Ile584Met I584M not reviewed Insufficiently evaluated not reviewed unknown Array rs1638630 10328 10758 0.96003 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTCHD3 Met521Thr M521T not reviewed Insufficiently evaluated not reviewed unknown Array rs2505327 6782 10756 0.630532 40 0 62 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTCHD3 Asp473Gly D473G not reviewed Insufficiently evaluated not reviewed unknown Array rs2429485 6775 10758 0.629764 40 0 62 0 0 - - - - - - - - - - - - - - - - 0.849 - - 4 Y 0 N - - PTCHD3 Cys407Gly C407G not reviewed Insufficiently evaluated not reviewed unknown Array rs2484180 4509 10758 0.41913 32 0 43 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - PTCHD3 Cys407Arg C407R not reviewed Insufficiently evaluated not reviewed unknown Array rs2484180 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PTCHD3 Gly234Asp G234D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTCHD3 Val209Ile V209I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - PTCHD3 Gln186Lys Q186K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - PTCHD3 Leu152Pro L152P not reviewed Insufficiently evaluated not reviewed unknown Array rs6482626 2876 10758 0.267336 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 1 N - - PTCRA Val106Ile V106I not reviewed Insufficiently evaluated not reviewed unknown Array rs9471966 3128 10758 0.29076 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - PTCRA Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array rs36111725 578 10174 0.0568115 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - PTDSS2 Trp128Leu W128L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - PTDSS2 Ala423Val A423V not reviewed Insufficiently evaluated not reviewed unknown Array rs61742833 820 10758 0.0762223 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTF1A His55Arg H55R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PTF1A Ser263Pro S263P not reviewed Insufficiently evaluated not reviewed unknown Array rs7918487 5459 10758 0.507436 46 0 73 0 0 - - - - - - - - - - - - Y - - - 0.981 Y - 3 - 2 N - - PTGDR Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array rs41311442 121 10756 0.0112495 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 3 - 2 - - PTGDR Tyr177Stop Y177X not reviewed Insufficiently evaluated not reviewed unknown Array rs41407349 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PTGER1 Leu126Pro L126P not reviewed Insufficiently evaluated not reviewed unknown Array 2 6936 0.00028835 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 7 Y 2 N - - PTGER3 Ser375Pro S375P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTGER3 Thr319Met T319M not reviewed Insufficiently evaluated not reviewed unknown Array rs13306020 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - PTGER4 Val294Ile V294I not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTGES2 Arg107His R107H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - PTGES2 Arg298His R298H not reviewed Insufficiently evaluated not reviewed unknown Array rs13283456 1548 10758 0.143893 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 10 - - PTGFRN Ser277Thr S277T not reviewed Insufficiently evaluated not reviewed unknown Array rs71483896 7063 10754 0.656779 57 0 59 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PTGFRN Arg430Gln R430Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34625170 289 10758 0.0268637 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - PTGFRN Ser736Thr S736T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - -2 - 2 N - - PTGFRN Val837Ile V837I not reviewed Insufficiently evaluated not reviewed unknown Array rs10801922 4257 10758 0.395706 42 0 53 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PTGIR Ser319Trp S319W not reviewed Insufficiently evaluated not reviewed unknown Array rs28590598 349 10758 0.032441 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.778 - - 7 Y 2 - 1 - - PTGIR Arg258Cys R258C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 8 Y 0 N - - PTGIR Arg212Cys R212C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 61 10216 0.00597103 0 0 0 1 1 - - - - - - - - - - - - - - - Y 0.989 - - 8 Y 4 N 10 - - PTGIR Gly27Ser G27S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - PTGR1 Ala27Ser A27S not reviewed Insufficiently evaluated not reviewed unknown Array rs1053959 6352 10758 0.590444 49 0 66 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTGS1 Trp8Arg W8R not reviewed Insufficiently evaluated not reviewed unknown Array rs1236913 10193 10758 0.947481 49 0 93 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PTGS1 Pro17Leu P17L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3842787 969 10756 0.0900893 6 0 6 2 2 - - - - - - - - - - - - - - - Y - - - 7 Y 1 N - - PTGS1 Leu237Met L237M not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 10 - - PTGS2 Val511Ala V511A not reviewed Insufficiently evaluated not reviewed unknown Array rs5273 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTH1R Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.338 - - 1 - 1 N - - PTK2 Glu118Lys E118K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - PTK2 Glu140Lys E140K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTK2 His115Tyr H115Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - -1 - 2 N - - PTK2 His137Tyr H137Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTK2B Asn544His N544H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.308 - - 0 - 1 N - - PTK2B Lys796Thr K796T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTK2B Lys838Thr K838T not reviewed Insufficiently evaluated not reviewed unknown Array rs751019 4326 10758 0.402119 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PTK7 Glu615Asp E615D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTK7 Glu689Asp E689D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTK7 Glu705Asp E705D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTK7 Glu745Asp E745D not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - PTK7 Arg1038Gln R1038Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34865794 328 10758 0.0304889 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.322 - - 0 - 2 - 3 - - PTK7 Arg908Gln R908Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PTK7 Arg982Gln R982Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PTK7 Arg998Gln R998Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PTOV1 Ile252Val I252V not reviewed Insufficiently evaluated not reviewed unknown Array rs59595912 732 10758 0.0680424 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PTP4A2 Gln76Lys Q76K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPDC1 Gly102Ala G102A not reviewed Insufficiently evaluated not reviewed unknown Array rs73518278 79 10758 0.00734337 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPDC1 Gly50Ala G50A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.245 - - 1 - 1 N - - PTPDC1 His530Leu H530L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.376 - - 6 Y 1 N - - PTPDC1 His582Leu H582L not reviewed Insufficiently evaluated not reviewed unknown Array rs73518294 218 10758 0.020264 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPLA His227Tyr H227Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1053926 2877 10746 0.267728 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PTPLA Val70Phe V70F not reviewed Insufficiently evaluated not reviewed unknown Array rs11254692 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPLA Glu64Lys E64K not reviewed Insufficiently evaluated not reviewed unknown Array rs7895850 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPLA Glu64Gln E64Q not reviewed Insufficiently evaluated not reviewed unknown Array 278 6578 0.0422621 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPLAD2 Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array rs2298260 2567 9500 0.270211 35 0 47 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PTPLB Thr7Ser T7S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN11 Ser189Ala S189A not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.657 Y Y -1 - 3 N - - PTPN11 Tyr197Stop Y197X pathogenic High clinical importance, Uncertain pathogenic recessive Array 373 10758 0.0346719 0 0 0 4 4 3 Y 1 Y 0 Y 0 Y 5 Y 0 Y Y - - - - Y Y 10 Y 4 N 2 0 This variant has been seen in a couple Illumina-based genomes but may be a sequencing error (a duplicate Complete Genomics sequencing of PGP4 has a high-confidence matching reference at this position). This nonsense mutation is not described in literature, but other variants in this gene are associated with Noonan syndrome and LEOPARD syndrome. This is unlikely to cause Noonan syndrome, which is caused by gain-of-function. LEOPARD syndrome is caused by dominant negative variants through binding-site competition displacing wild-type function. We believe a nonsense variant would disrupt function without blocking binding - such loss of function in mice is recessive and embryonic lethal, and so we mark this variant as recessive. The possibility that human infants survive to term with early lethality leads us to mark this as a potentially very severe effect. PTPN11 Arg512Stop R512X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PTPN12 Val192Ile V192I not reviewed Insufficiently evaluated not reviewed unknown Array rs9640663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN12 Val203Ile V203I not reviewed Insufficiently evaluated not reviewed unknown Array rs9640663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN12 Val322Ile V322I not reviewed Insufficiently evaluated not reviewed unknown Array rs9640663 7210 10758 0.670199 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PTPN12 Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - PTPN12 Ile352Val I352V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN12 Ile471Val I471V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN12 Thr443Ala T443A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN12 Thr454Ala T454A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - PTPN12 Thr573Ala T573A not reviewed Insufficiently evaluated not reviewed unknown Array rs3750050 1873 10758 0.174103 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - PTPN12 Glu576Lys E576K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN12 Glu587Lys E587K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN12 Glu706Lys E706K not reviewed Insufficiently evaluated not reviewed unknown Array rs2230602 590 10754 0.0548633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PTPN13 Cys324Tyr C324Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - PTPN13 Phe1165Leu F1165L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN13 Phe1337Leu F1337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN13 Phe1356Leu F1356L not reviewed Insufficiently evaluated not reviewed unknown Array rs10033029 960 9436 0.101738 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - PTPN13 Val1270Phe V1270F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPN13 Val1442Phe V1442F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPN13 Val1461Phe V1461F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - PTPN13 Val1466Phe V1466F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPN13 Ile1331Met I1331M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230600 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPN13 Ile1503Met I1503M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230600 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPN13 Ile1522Met I1522M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230600 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -1 - 0 N - - PTPN13 Ile1527Met I1527M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230600 1179 9518 0.123871 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTPN13 Glu1434Lys E1434K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN13 Glu1606Lys E1606K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN13 Glu1625Lys E1625K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 0 - 1 N - - PTPN13 Glu1630Lys E1630K not reviewed Insufficiently evaluated not reviewed unknown Array rs12500797 932 10016 0.0930511 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTPN13 Tyr1890Asp Y1890D not reviewed Insufficiently evaluated not reviewed unknown Array rs989902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPN13 Tyr2062Asp Y2062D not reviewed Insufficiently evaluated not reviewed unknown Array rs989902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPN13 Tyr2081Asp Y2081D not reviewed Insufficiently evaluated not reviewed unknown Array rs989902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPN13 Tyr2086Asp Y2086D not reviewed Insufficiently evaluated not reviewed unknown Array rs989902 5158 9580 0.538413 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PTPN13 Thr2140Ala T2140A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN13 Thr2312Ala T2312A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN13 Thr2331Ala T2331A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.607 - - 1 - 1 N - - PTPN13 Thr2336Ala T2336A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN14 Arg877Gln R877Q not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN14 Thr536Met T536M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN14 Val505Phe V505F not reviewed Insufficiently evaluated not reviewed unknown Array rs12239356 622 10758 0.0578174 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PTPN14 His360Pro H360P not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - PTPN14 Arg293Trp R293W not reviewed Insufficiently evaluated not reviewed unknown Array rs57950654 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPN14 Glu189Gly E189G not reviewed Insufficiently evaluated not reviewed unknown Array 267 10758 0.0248187 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPN14 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN2 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PTPN2 Thr171Lys T171K not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PTPN2 Asp67Glu D67E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - PTPN20A Thr21Ala T21A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PTPN20A Thr30Ala T30A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 1 - 1 N - - PTPN20B Thr21Ala T21A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PTPN20B Thr30Ala T30A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN21 Val936Ala V936A not reviewed Insufficiently evaluated not reviewed unknown Array rs2274736 4313 10758 0.400911 45 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTPN21 Leu385Phe L385F not reviewed Insufficiently evaluated not reviewed unknown Array rs2401751 3796 10758 0.352854 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTPN22 Arg680Gln R680Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10754 0.0016738 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN22 Trp620Arg W620R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2476601 10051 10758 0.934281 47 0 86 1 1 2 Y - - - - - - - - - - - - Y Y - - - 7 Y 2 N - - PTPN23 Ala944Thr A944T not reviewed Insufficiently evaluated not reviewed unknown Array 3732 10756 0.346969 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PTPN3 Asp431Asn D431N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PTPN3 Asp476Asn D476N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PTPN3 Asp587Asn D587N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PTPN3 Asp632Asn D632N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - PTPN3 Asp718Asn D718N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PTPN3 Asp763Asn D763N not reviewed Insufficiently evaluated not reviewed unknown Array rs10116806 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PTPN3 Glu237Gln E237Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN3 Glu282Gln E282Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN3 Glu393Gln E393Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN3 Glu438Gln E438Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN3 Glu524Gln E524Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN3 Glu569Gln E569Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59324117 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN3 Ala90Pro A90P not reviewed Insufficiently evaluated not reviewed unknown Array rs3793524 4155 10758 0.386224 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTPN4 Thr924Ser T924S not reviewed Insufficiently evaluated not reviewed unknown Array rs3189128 588 10754 0.0546773 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PTPN5 Pro138Ala P138A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN5 Pro170Ala P170A not reviewed Insufficiently evaluated not reviewed unknown Array rs4757707 3101 10758 0.288251 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTPN7 Arg305Gln R305Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - PTPN7 Arg344Gln R344Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN7 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PTPRA Pro109Leu P109L not reviewed Insufficiently evaluated not reviewed unknown Array rs1178027 2766 10758 0.257111 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PTPRB Thr1157Met T1157M not reviewed Insufficiently evaluated not reviewed unknown Array rs2304821 882 10150 0.0868966 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTPRB Thr939Met T939M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRB Asp415Glu D415E not reviewed Insufficiently evaluated not reviewed unknown Array rs2165627 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRB Asp633Glu D633E not reviewed Insufficiently evaluated not reviewed unknown Array rs2165627 1330 10130 0.131293 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PTPRB Ser127Gly S127G not reviewed Insufficiently evaluated not reviewed unknown Array rs2465811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRB Ser345Gly S345G not reviewed Insufficiently evaluated not reviewed unknown Array rs2465811 3021 9662 0.312668 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTPRB Arg312Lys R312K not reviewed Insufficiently evaluated not reviewed unknown Array rs2252784 4677 9740 0.480185 39 0 54 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PTPRB Arg94Lys R94K not reviewed Insufficiently evaluated not reviewed unknown Array rs2252784 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PTPRB Asp57Asn D57N not reviewed Insufficiently evaluated not reviewed unknown Array rs2584021 1081 10162 0.106377 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTPRC Thr191Ala T191A not reviewed Insufficiently evaluated not reviewed unknown Array rs4915154 67 10758 0.00622792 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PTPRC Asn188Ser N188S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRC Asn301Ser N301S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRC Asn349Ser N349S not reviewed Insufficiently evaluated not reviewed unknown Array 94 10472 0.00897632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRC Pro1046Leu P1046L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRC Pro1159Leu P1159L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRC Pro1207Leu P1207L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.189 - - 7 Y 0 N - - PTPRCAP Gly128Glu G128E not reviewed Insufficiently evaluated not reviewed unknown Array rs60969594 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 2 - - PTPRD Arg982Cys R982C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRD Arg986Cys R986C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRD Arg995Cys R995C not reviewed Insufficiently evaluated not reviewed unknown Array rs35929428 744 10758 0.0691578 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - PTPRD Thr906Asn T906N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Thr910Asn T910N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Thr919Asn T919N not reviewed Insufficiently evaluated not reviewed unknown Array rs73426355 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Pro854Leu P854L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - PTPRD Pro858Leu P858L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRD Pro867Leu P867L not reviewed Insufficiently evaluated not reviewed unknown Array rs73426359 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - PTPRD Thr768Ala T768A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Thr781Ala T781A not reviewed Insufficiently evaluated not reviewed unknown Array 229 10758 0.0212865 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PTPRD Gln434Glu Q434E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRD Gln444Glu Q444E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRD Gln447Glu Q447E not reviewed Insufficiently evaluated not reviewed unknown Array rs10977171 358 10758 0.0332776 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.117 - - -2 - 0 N - - PTPRG Tyr92His Y92H not reviewed Insufficiently evaluated not reviewed unknown Array rs62620047 1296 10758 0.120468 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTPRG Gly574Ser G574S not reviewed Insufficiently evaluated not reviewed unknown Array rs2292245 1599 10590 0.150991 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTPRG Gln639Arg Q639R not reviewed Insufficiently evaluated not reviewed unknown Array rs9870460 253 10740 0.0235568 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PTPRG Gly838Ser G838S not reviewed Insufficiently evaluated not reviewed unknown Array rs72878145 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRH Ile1076Val I1076V not reviewed Insufficiently evaluated not reviewed unknown Array rs2288419 3047 10758 0.283231 37 0 46 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 1 N - - PTPRH Glu1012Ala E1012A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - PTPRH Gly951Asp G951D not reviewed Insufficiently evaluated not reviewed unknown Array rs61734259 1121 10758 0.104202 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - PTPRH Gly831Asp G831D not reviewed Insufficiently evaluated not reviewed unknown Array rs36092369 178 10758 0.0165458 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 4 Y 0 N - - PTPRH Lys823Glu K823E not reviewed Insufficiently evaluated not reviewed unknown Array rs890870 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTPRH Lys781Asn K781N not reviewed Insufficiently evaluated not reviewed unknown Array rs2288523 2254 10758 0.209518 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - PTPRH Arg704Trp R704W not reviewed Insufficiently evaluated not reviewed unknown Array rs73619559 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - PTPRH Leu543Phe L543F not reviewed Insufficiently evaluated not reviewed unknown Array rs16986309 1310 10758 0.12177 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PTPRH His348Tyr H348Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2288515 5915 10758 0.549823 40 0 47 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 1 N - - PTPRH Gly270Glu G270E not reviewed Insufficiently evaluated not reviewed unknown Array rs61734256 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 1 - - PTPRH Val243Ile V243I not reviewed Insufficiently evaluated not reviewed unknown Array rs45535035 1872 10758 0.17401 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - PTPRH Asp232Asn D232N not reviewed Insufficiently evaluated not reviewed unknown Array 251 10758 0.0233315 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 3 - 2 - - PTPRJ Gln276Pro Q276P not reviewed Insufficiently evaluated not reviewed other Array rs1566734 1596 10758 0.148355 15 0 18 2 2 1 Y - - - - - - - - - - - Y - - 0.007 - - 4 Y 2 N - - This variant is associated with susceptibility to various cancers. PTPRJ Arg326Gln R326Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1503185 2112 10758 0.196319 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PTPRJ Arg418His R418H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 1 - 1 - - PTPRJ Pro445Leu P445L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 3 - 2 - - PTPRJ Arg712Trp R712W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRJ Glu872Asp E872D not reviewed Insufficiently evaluated not reviewed unknown Array rs4752904 4611 10758 0.428611 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - PTPRK Leu312Arg L312R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRM Ser39Arg S39R not reviewed Insufficiently evaluated not reviewed unknown Array rs35224276 249 10758 0.0231456 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRM Thr1016Pro T1016P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRM Thr1029Pro T1029P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRN Ser419Arg S419R not reviewed Insufficiently evaluated not reviewed unknown Array rs35314717 401 10758 0.0372746 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - PTPRN2 Gln387Lys Q387K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRN2 Gln404Lys Q404K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - PTPRN2 Asp367Asn D367N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPRN2 Asp384Asn D384N not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - PTPRN2 Arg355His R355H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRN2 Arg372His R372H not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PTPRN2 Val326Met V326M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PTPRN2 Val343Met V343M not reviewed Insufficiently evaluated not reviewed unknown Array rs3752368 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 2 - 3 - - PTPRN2 Ser308Asn S308N not reviewed Insufficiently evaluated not reviewed unknown Array rs1130499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRN2 Ser325Asn S325N not reviewed Insufficiently evaluated not reviewed unknown Array rs1130499 3729 10758 0.346626 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.438 - - 0 - 0 N - - PTPRN2 Ser230Gly S230G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - PTPRN2 Ser247Gly S247G not reviewed Insufficiently evaluated not reviewed unknown Array rs73745196 244 10758 0.0226808 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRN2 Arg196His R196H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRN2 Arg213His R213H not reviewed Insufficiently evaluated not reviewed unknown Array rs1130496 3687 10754 0.342849 32 0 40 0 0 - - - - - - - - - - - - - - - - 0.802 - - 1 - 0 N - - PTPRN2 Ser191Pro S191P not reviewed Insufficiently evaluated not reviewed unknown Array rs1130495 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.354 - - 3 - 1 N - - PTPRN2 Ser208Pro S208P not reviewed Insufficiently evaluated not reviewed unknown Array rs1130495 9287 10758 0.863265 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PTPRN2 Gly167Arg G167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PTPRN2 Gly184Arg G184R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 3 - 1 - - PTPRN2 Ser123Thr S123T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - -2 - 1 N - - PTPRN2 Ser140Thr S140T not reviewed Insufficiently evaluated not reviewed unknown Array rs3800855 2326 10758 0.216211 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.849 - - -2 - 0 N - - PTPRO Asn370Lys N370K not reviewed Insufficiently evaluated not reviewed unknown Array rs61754411 200 10752 0.0186012 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRO Val443Ile V443I not reviewed Insufficiently evaluated not reviewed unknown Array rs71459181 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRO Glu753Gly E753G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRQ Thr17Ile T17I not reviewed Insufficiently evaluated not reviewed unknown Array rs60216135 221 3232 0.0683787 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PTPRQ Thr33Ile T33I not reviewed Insufficiently evaluated not reviewed unknown Array 70 3234 0.021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRQ Thr210Ser T210S not reviewed Insufficiently evaluated not reviewed unknown Array 19 3234 0.00587508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRQ Arg259Gln R259Q not reviewed Insufficiently evaluated not reviewed unknown Array 142 3234 0.0439085 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRQ Val473Asp V473D not reviewed Insufficiently evaluated not reviewed unknown Array rs10778752 2902 3234 0.897341 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PTPRQ Gln619Lys Q619K not reviewed Insufficiently evaluated not reviewed unknown Array rs11114486 1753 3208 0.546446 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PTPRQ Val647Gly V647G not reviewed Insufficiently evaluated not reviewed unknown Array rs7965277 1051 3230 0.325387 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PTPRQ Val658Ala V658A not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRQ Ile842Val I842V not reviewed Insufficiently evaluated not reviewed unknown Array 85 3212 0.0264633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRQ Phe884Leu F884L not reviewed Insufficiently evaluated not reviewed unknown Array rs6539524 1211 3234 0.374459 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTPRQ Ala906Pro A906P not reviewed Insufficiently evaluated not reviewed unknown Array 145 3234 0.0448361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRQ Tyr915Cys Y915C not reviewed Insufficiently evaluated not reviewed unknown Array 22 3234 0.00680272 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRQ Asn1030Asp N1030D not reviewed Insufficiently evaluated not reviewed unknown Array rs17713202 547 3226 0.16956 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTPRQ Glu1796Lys E1796K not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRQ Arg1916Lys R1916K not reviewed Insufficiently evaluated not reviewed unknown Array 47 3234 0.0145331 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - PTPRR Val141Ile V141I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRR Val386Ile V386I not reviewed Insufficiently evaluated not reviewed unknown Array rs35387004 659 10758 0.0612567 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PTPRR Lys314Arg K314R not reviewed Insufficiently evaluated not reviewed unknown Array rs3803036 6981 10758 0.648912 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PTPRR Lys69Arg K69R not reviewed Insufficiently evaluated not reviewed unknown Array rs3803036 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PTPRR Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array rs73341069 146 10756 0.0135738 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PTPRS Cys1010Arg C1010R not reviewed Insufficiently evaluated not reviewed unknown Array rs4807697 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRS Cys1014Arg C1014R not reviewed Insufficiently evaluated not reviewed unknown Array rs4807697 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRS Cys1419Arg C1419R not reviewed Insufficiently evaluated not reviewed unknown Array rs4807697 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRS Cys1457Arg C1457R not reviewed Insufficiently evaluated not reviewed unknown Array rs4807697 10748 10758 0.99907 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PTPRS Arg618Leu R618L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRS Arg631Leu R631L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - PTPRS Val449Ile V449I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRS Val453Ile V453I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRS Val462Ile V462I not reviewed Insufficiently evaluated not reviewed unknown Array rs73545312 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - PTPRS Ser348Phe S348F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRS Ser352Phe S352F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRS Ser361Phe S361F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - PTPRS Ser348Thr S348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRS Ser352Thr S352T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRS Ser361Thr S361T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - PTPRT Val933Leu V933L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRT Val952Leu V952L not reviewed Insufficiently evaluated not reviewed unknown Array rs73909220 174 10354 0.0168051 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRT Ala813Thr A813T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRT Ala832Thr A832T not reviewed Insufficiently evaluated not reviewed unknown Array rs61749502 247 10234 0.0241352 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRT Ala29Pro A29P not reviewed Insufficiently evaluated not reviewed unknown Array rs2867655 1226 1494 0.820616 6 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PTPRU Glu509Gly E509G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRU Asn930Ser N930S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRU Asn940Ser N940S not reviewed Insufficiently evaluated not reviewed unknown Array rs2235937 2509 10758 0.233222 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTPRU Arg1192Pro R1192P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRU Arg1198Pro R1198P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRU Arg1202Pro R1202P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRZ1 Ile3Ser I3S not reviewed Insufficiently evaluated not reviewed unknown Array rs740965 1233 10758 0.114612 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 1 N - - PTPRZ1 Arg6Leu R6L not reviewed Insufficiently evaluated not reviewed unknown Array rs11980387 384 10758 0.0356944 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 1 N - - PTPRZ1 Arg920Cys R920C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.513 - - 8 Y 1 N - - PTPRZ1 Gly1346Asp G1346D not reviewed Insufficiently evaluated not reviewed unknown Array rs57428996 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRZ1 Asp1384Asn D1384N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732005 774 10758 0.0719465 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PTPRZ1 Asp1426Gly D1426G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - 4 Y 1 N - - PTPRZ1 Gly1433Asp G1433D not reviewed Insufficiently evaluated not reviewed unknown Array rs1147504 6873 10758 0.638873 47 0 82 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PTPRZ1 Ser1606Ala S1606A not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - -1 - 2 N - - PTRH1 Pro214Leu P214L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PTTG2 Arg44Pro R44P not reviewed Insufficiently evaluated not reviewed unknown Array rs6811863 85 128 0.664062 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PTX3 Ala48Asp A48D not reviewed Insufficiently evaluated not reviewed unknown Array rs3816527 6637 10458 0.634634 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PTX3 Ala290Val A290V not reviewed Insufficiently evaluated not reviewed unknown Array rs35415718 419 10758 0.0389478 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PURA Gly34Ser G34S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PURB Ala201Val A201V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PUS10 Lys42Glu K42E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - PUS3 Glu460Asp E460D not reviewed Insufficiently evaluated not reviewed unknown Array rs3088241 5005 10758 0.465235 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PUS3 Gln341His Q341H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PUS3 Ala46Ser A46S not reviewed Insufficiently evaluated not reviewed unknown Array rs549990 7130 10758 0.662763 46 0 72 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PUS3 Tyr3Asp Y3D not reviewed Insufficiently evaluated not reviewed unknown Array rs622756 8623 10758 0.801543 49 0 84 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PUS7L Lys264Glu K264E not reviewed Insufficiently evaluated not reviewed unknown Array rs1057190 2717 10758 0.252556 21 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PUS7L Ile92Met I92M not reviewed Insufficiently evaluated not reviewed unknown Array rs33999797 303 10758 0.0281651 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PUSL1 Arg103Gln R103Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12094447 176 9838 0.0178898 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - PUSL1 Arg197Trp R197W not reviewed Insufficiently evaluated not reviewed unknown Array rs34738574 487 10390 0.046872 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - PUSL1 Leu217Val L217V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - PVR Ala15Glu A15E not reviewed Insufficiently evaluated not reviewed unknown Array 1 9948 0.000100522 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 1 - 10 - - PVR Ala67Thr A67T not reviewed Insufficiently evaluated not reviewed unknown Array rs1058402 561 10758 0.0521472 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PVR Pro193Ala P193A not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.748 - - 2 - 1 N - - PVR Ile340Met I340M not reviewed Insufficiently evaluated not reviewed unknown Array rs203710 10575 10758 0.982989 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PVR Arg391Ser R391S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PVRIG Glu18Stop E18X not reviewed Insufficiently evaluated not reviewed unknown Array rs7786505 2373 10732 0.221114 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PVRIG Asn81Asp N81D not reviewed Insufficiently evaluated not reviewed unknown Array rs2906645 8195 10738 0.763178 37 0 60 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PVRIG Pro280Ser P280S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PVRL1 Ser447Leu S447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 2 - - PVRL1 Pro395Ser P395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PVRL1 Val361Gly V361G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - PVRL1 Arg350Met R350M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PVRL2 Pro87Thr P87T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 4 Y 2 N - - PVRL2 Val374Ala V374A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - PVRL3 Asp532Glu D532E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - -2 - 0 N - - PVRL4 Leu146Met L146M not reviewed Insufficiently evaluated not reviewed unknown Array 143 10254 0.0139458 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - PVRL4 Pro104Thr P104T not reviewed Insufficiently evaluated not reviewed unknown Array rs35434391 781 10688 0.0730726 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - PVRL4 Phe53Leu F53L not reviewed Insufficiently evaluated not reviewed unknown Array rs3737786 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 3 - 5 - - PWP1 Ile378Val I378V not reviewed Insufficiently evaluated not reviewed unknown Array rs74918182 187 10758 0.0173824 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PWP2 Asp25Asn D25N not reviewed Insufficiently evaluated not reviewed unknown Array rs2020945 6923 10758 0.643521 42 0 62 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - PWP2 Val73Ala V73A not reviewed Insufficiently evaluated not reviewed unknown Array rs58851899 2 10756 0.000185942 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.474 - - 2 - 1 N - - PWP2 Glu319Asp E319D not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PWP2 Asn574Asp N574D not reviewed Insufficiently evaluated not reviewed unknown Array rs34880744 104 10758 0.00966722 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PWWP2A Glu128Gly E128G not reviewed Insufficiently evaluated not reviewed unknown Array rs56806495 239 9018 0.0265025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - PWWP2B Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array rs11146363 5980 10276 0.581939 29 0 46 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PWWP2B Arg98Gly R98G not reviewed Insufficiently evaluated not reviewed unknown Array rs10747057 5558 9426 0.589646 12 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PWWP2B Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array 183 10606 0.0172544 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.878 - - 0 - 2 N - - PXDN Ser602Leu S602L not reviewed Insufficiently evaluated not reviewed unknown Array rs73910815 67 10262 0.00652894 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PXDN Ile101Met I101M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - -1 - 1 N - - PXDNL Asp1452Glu D1452E not reviewed Insufficiently evaluated not reviewed unknown Array rs1052704 3420 9708 0.352287 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PXDNL Ser1438Cys S1438C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - 3 - 0 N - - PXDNL Arg1399Lys R1399K not reviewed Insufficiently evaluated not reviewed unknown Array rs7827446 3465 9892 0.350283 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PXDNL Arg1305Ser R1305S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 3 - 2 N - - PXDNL Asn1039Ser N1039S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10198 0.00647186 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - PXDNL Met981Val M981V not reviewed Insufficiently evaluated not reviewed unknown Array rs2977020 8246 10190 0.809225 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PXDNL Pro740Ser P740S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10058 0.00517001 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - PXDNL Arg391Gln R391Q not reviewed Insufficiently evaluated not reviewed unknown Array 126 10386 0.0121317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PXDNL Ile343Thr I343T not reviewed Insufficiently evaluated not reviewed unknown Array rs7833909 1534 9946 0.154233 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.418 - - 3 - 0 N - - PXK Cys425Arg C425R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 8 Y 2 N - - PXK Lys481Arg K481R not reviewed Insufficiently evaluated not reviewed unknown Array rs56384862 3099 10758 0.288065 27 0 30 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - PXK Ala535Val A535V not reviewed Insufficiently evaluated not reviewed unknown Array rs34579268 3427 10758 0.318554 29 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PXMP2 Asn180His N180H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PXMP3 Cys184Arg C184R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PXMP4 Val204Ile V204I not reviewed Insufficiently evaluated not reviewed unknown Array rs910397 5748 10758 0.5343 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PXN Ser73Gly S73G not reviewed Insufficiently evaluated not reviewed unknown Array rs4767884 8088 9722 0.831928 50 0 94 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PYCARD Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PYCARD Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - PYCRL Lys162Asn K162N not reviewed Insufficiently evaluated not reviewed unknown Array 4330 10754 0.402641 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PYCRL Val117Met V117M not reviewed Insufficiently evaluated not reviewed unknown Array rs2242089 1937 10758 0.180052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PYDC2 Gln81Arg Q81R not reviewed Insufficiently evaluated not reviewed unknown Array rs293833 87 128 0.679688 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PYGB Tyr91Cys Y91C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 3 - 1 - - PYGB Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array rs73341199 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - PYGB Ala303Ser A303S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228976 1616 10758 0.150214 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 1 N - - PYGB Ile336Thr I336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.938 - - 3 - 2 N - - PYGB Asp502Asn D502N not reviewed Insufficiently evaluated not reviewed unknown Array rs2227891 1608 10750 0.149581 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - PYGL Asn845Ser N845S not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.302 Y Y 0 - 3 N - - PYGL Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array rs946616 1142 10758 0.106154 11 0 13 0 0 - - - - - - - - - - - - Y - - - 0.336 Y Y -4 - 2 N - - PYGM Ile762Met I762M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - PYGM Ala670Val A670V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y 2 - 4 N - - PYGM Arg414Gly R414G not reviewed Insufficiently evaluated not reviewed unknown Array rs11231866 659 10730 0.0614166 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 6 Y 3 - 2 - - PYGO1 Pro299His P299H not reviewed Insufficiently evaluated not reviewed unknown Array rs11858624 597 10758 0.0554936 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PYHIN1 Pro169Arg P169R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PYHIN1 Pro178Arg P178R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - PYROXD1 Ala204Thr A204T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PYROXD2 Ala533Thr A533T not reviewed Insufficiently evaluated not reviewed unknown Array rs2296441 3503 10758 0.325618 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PYROXD2 Met461Thr M461T not reviewed Insufficiently evaluated not reviewed unknown Array rs2147896 5382 10758 0.500279 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PYROXD2 Leu240Stop L240X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PYROXD2 Thr25Met T25M not reviewed Insufficiently evaluated not reviewed unknown Array rs61738534 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - PYROXD2 Arg22Gly R22G not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 6 Y 1 N - - PYY Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array rs61612861 321 10754 0.0298494 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 9 - - PYY Thr72Arg T72R not reviewed Insufficiently evaluated not reviewed unknown Array rs1058046 6344 10752 0.59003 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PYY Arg37Gly R37G not reviewed Insufficiently evaluated not reviewed unknown Array rs229969 98 98 1 44 0 86 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PZP Ile1443Asn I1443N not reviewed Insufficiently evaluated not reviewed unknown Array rs10842971 2617 10758 0.243261 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PZP Thr1205Pro T1205P not reviewed Insufficiently evaluated not reviewed unknown Array rs2377741 10523 10758 0.978156 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PZP Thr1003Met T1003M not reviewed Insufficiently evaluated not reviewed unknown Array rs57006764 1787 10758 0.166109 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PZP Asn857Ser N857S not reviewed Insufficiently evaluated not reviewed unknown Array rs3213831 4575 10758 0.425265 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PZP Ser755Ala S755A not reviewed Insufficiently evaluated not reviewed unknown Array rs73246398 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PZP Arg642His R642H not reviewed Insufficiently evaluated not reviewed unknown Array rs60479172 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PZP Leu379Val L379V not reviewed Insufficiently evaluated not reviewed unknown Array rs12230214 2641 10758 0.245492 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - QARS Asn285Ser N285S not reviewed Insufficiently evaluated not reviewed unknown Array rs11539148 452 10758 0.0420152 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - QARS Lys158Glu K158E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - QDPR Glu196Asp E196D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - QPCT Arg54Trp R54W not reviewed Insufficiently evaluated not reviewed unknown Array rs2255991 263 10758 0.0244469 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.937 - - 7 Y 2 N - - QPCT His360Pro H360P not reviewed Insufficiently evaluated not reviewed unknown Array rs4670696 268 10758 0.0249117 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - QPCTL Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array 309 10758 0.0287228 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - QPCTL Val349Ile V349I not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - QPCTL Glu357Lys E357K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.811 - - 0 - 1 N - - QPRT Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303255 1457 10560 0.137973 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - QPRT Thr195Ala T195A not reviewed Insufficiently evaluated not reviewed unknown Array rs9932770 10739 10752 0.998791 53 0 105 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - QRFP Glu80Gly E80G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 6 Y 1 N - - QRFPR Arg371Trp R371W not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.227 - - 7 Y 1 N - - QRFPR Leu344Ser L344S not reviewed Insufficiently evaluated not reviewed unknown Array rs2302310 1727 10756 0.160562 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - QRFPR His149Gln H149Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11947418 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 3 - 3 - - QRFPR Phe61Val F61V not reviewed Insufficiently evaluated not reviewed unknown Array rs17438900 1835 10758 0.170571 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - QRICH1 Asn771Ser N771S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729488 801 10758 0.0744562 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - QRICH1 Val216Met V216M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - QRICH2 Pro1571Leu P1571L not reviewed Insufficiently evaluated not reviewed unknown Array rs73350377 1402 10758 0.130322 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - QRICH2 Ala1486Val A1486V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 2 - 1 N - - QRICH2 Leu1464Pro L1464P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - QRICH2 Glu1036Gln E1036Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2279052 3872 10758 0.359918 35 0 46 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 1 N - - QRICH2 His974Arg H974R not reviewed Insufficiently evaluated not reviewed unknown Array rs2279053 4512 10758 0.419409 41 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - QRICH2 His906Tyr H906Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2279054 3770 10758 0.350437 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 1 N - - QRICH2 Gly741Asp G741D not reviewed Insufficiently evaluated not reviewed unknown Array rs73352309 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - QRICH2 His683Arg H683R not reviewed Insufficiently evaluated not reviewed unknown Array rs3826286 4559 10758 0.423778 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 1 N - - QRICH2 Gly634Ser G634S not reviewed Insufficiently evaluated not reviewed unknown Array 2073 10748 0.192873 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 1 N - - QRICH2 Ile630Thr I630T not reviewed Insufficiently evaluated not reviewed unknown Array 1434 9972 0.143803 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - QRICH2 Ile630Val I630V not reviewed Insufficiently evaluated not reviewed unknown Array 1443 9974 0.144676 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - QRICH2 His581Gln H581Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - QRICH2 His581Asp H581D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - QRICH2 Gln486Pro Q486P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - QRICH2 Leu202Ser L202S not reviewed Insufficiently evaluated not reviewed unknown Array rs6501880 4425 10758 0.411322 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - QRICH2 Ala69Val A69V not reviewed Insufficiently evaluated not reviewed unknown Array rs73996306 890 10758 0.0827291 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - QRSL1 Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array rs36016898 1112 10758 0.103365 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - QRSL1 Lys209Thr K209T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - QRSL1 Asn263Ser N263S not reviewed Insufficiently evaluated not reviewed unknown Array rs34221917 380 10758 0.0353226 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - QRSL1 Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - QSER1 Val385Ile V385I not reviewed Insufficiently evaluated not reviewed unknown Array rs1022586 9280 9550 0.971728 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - QSER1 Asn409His N409H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - QSER1 Asn409Ile N409I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.739 - - 7 Y 1 N - - QSER1 Tyr410Stop Y410X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - QSER1 Gln644Arg Q644R not reviewed Insufficiently evaluated not reviewed unknown Array rs2297781 647 9640 0.0671162 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 1 N - - QSER1 Asn1018Ser N1018S not reviewed Insufficiently evaluated not reviewed unknown Array rs7940077 9473 9744 0.972188 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - QSK Pro1078Arg P1078R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - Y - - - 5 Y 2 N - - QSK Asp1040Glu D1040E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - QSK Ala705Thr A705T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - QSOX1 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 71 7068 0.0100453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - QSOX1 Asn114Ser N114S not reviewed Insufficiently evaluated not reviewed unknown Array rs3894211 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - 0 - 1 - 3 - - QSOX1 Gly200Ala G200A not reviewed Insufficiently evaluated not reviewed unknown Array rs17855475 1587 10758 0.147518 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 1 N - - QSOX1 Ala214Val A214V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - QSOX1 His399Tyr H399Y not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - QSOX1 His444Arg H444R not reviewed Insufficiently evaluated not reviewed unknown Array rs12371 719 10758 0.066834 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 4 - - QSOX1 Asn591His N591H not reviewed Insufficiently evaluated not reviewed unknown Array rs3738115 69 10758 0.00641383 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - QSOX1 Arg605Pro R605P not reviewed Insufficiently evaluated not reviewed unknown Array rs16855466 236 10758 0.0219372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.352 - - 5 Y 2 - 2 - - QSOX2 Ala340Thr A340T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - QSOX2 Lys126Glu K126E not reviewed Insufficiently evaluated not reviewed unknown Array rs12380852 972 10758 0.0903514 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - QTRTD1 Lys402Arg K402R not reviewed Insufficiently evaluated not reviewed unknown Array rs34402903 402 10758 0.0373675 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - R3HCC1 Val120Met V120M not reviewed Insufficiently evaluated not reviewed unknown Array rs2272761 1752 3234 0.541744 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - R3HCC1 Leu176Arg L176R not reviewed Insufficiently evaluated not reviewed unknown Array rs13530 1756 3234 0.542981 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - R3HDM1 Met270Val M270V not reviewed Insufficiently evaluated not reviewed unknown Array rs961360 1973 10758 0.183398 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.578 - - 0 - 0 N - - R3HDM1 Gln632Pro Q632P not reviewed Insufficiently evaluated not reviewed unknown Array rs2305165 1028 10758 0.0955568 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 1 N - - R3HDM2 Arg922Cys R922C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - R3HDM2 Met562Ile M562I not reviewed Insufficiently evaluated not reviewed unknown Array rs73338188 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.117 - - -1 - 0 N - - RAB11FIP1 Met1185Thr M1185T not reviewed Insufficiently evaluated not reviewed unknown Array rs71519993 7986 10758 0.742331 51 0 50 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAB11FIP1 Met514Thr M514T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB11FIP1 Met551Thr M551T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB11FIP1 Ala768Val A768V not reviewed Insufficiently evaluated not reviewed unknown Array rs16887092 1143 10758 0.106247 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAB11FIP1 Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB11FIP1 Ala651Val A651V not reviewed Insufficiently evaluated not reviewed unknown Array rs12541651 6546 10758 0.608477 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAB11FIP1 Gln622Lys Q622K not reviewed Insufficiently evaluated not reviewed unknown Array rs7341564 4205 10758 0.390872 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RAB11FIP1 Ile602Thr I602T not reviewed Insufficiently evaluated not reviewed unknown Array rs73673899 269 10758 0.0250046 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - RAB11FIP2 Asn430Ile N430I not reviewed Insufficiently evaluated not reviewed unknown Array rs58533443 204 10758 0.0189626 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAB13 Gly181Ser G181S not reviewed Insufficiently evaluated not reviewed unknown Array 309 10758 0.0287228 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB15 Glu176Gly E176G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 0 N - - RAB15 Gly173Val G173V not reviewed Insufficiently evaluated not reviewed unknown Array rs35179634 1461 10758 0.135806 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RAB17 Leu191Pro L191P not reviewed Insufficiently evaluated not reviewed unknown Array rs2280289 3468 10758 0.322365 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RAB17 Ser184Gly S184G not reviewed Insufficiently evaluated not reviewed unknown Array rs34311889 1405 10758 0.1306 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - RAB17 Val19Ala V19A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751112 3087 10758 0.286949 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - RAB18 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array rs11015859 365 10758 0.0339282 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB19 Ser72Gly S72G not reviewed Insufficiently evaluated not reviewed unknown Array rs73735243 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB19 Tyr199His Y199H not reviewed Insufficiently evaluated not reviewed unknown Array rs2948386 20 128 0.15625 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RAB21 Ser55Stop S55X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAB23 Gly207Ser G207S not reviewed Insufficiently evaluated not reviewed unknown Array rs1040461 1235 10758 0.114798 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAB27B Gln187Glu Q187E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAB2B Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAB35 Val188Ala V188A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - RAB35 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10340 0.000193423 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAB36 Asn308Asp N308D not reviewed Insufficiently evaluated not reviewed unknown Array rs5759612 5524 10758 0.513478 47 0 64 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RAB3B Leu212Val L212V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB3D Val64Ile V64I not reviewed Insufficiently evaluated not reviewed unknown Array rs3969860 729 10758 0.0677635 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 1 - 4 - - RAB3GAP1 Asn598Ser N598S not reviewed Insufficiently evaluated not reviewed unknown Array rs10445686 1232 10758 0.114519 14 0 18 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - RAB3GAP1 Pro934Ala P934A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 2 - 3 N - - RAB3GAP2 Ile1354Val I1354V not reviewed Insufficiently evaluated not reviewed unknown Array rs59190330 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - RAB3GAP2 Thr863Ala T863A not reviewed Insufficiently evaluated not reviewed unknown Array rs12045447 560 10758 0.0520543 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - RAB3GAP2 Thr313Ile T313I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RAB3IL1 His323Tyr H323Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3815045 178 10750 0.0165581 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - RAB3IL1 Thr26Ala T26A not reviewed Insufficiently evaluated not reviewed unknown Array rs34281659 431 10572 0.0407681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RAB40A Ser224Phe S224F not reviewed Insufficiently evaluated not reviewed unknown Array rs61735524 805 8761 0.0918845 10 0 14 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 1 N - - RAB40A His45Leu H45L not reviewed Insufficiently evaluated not reviewed unknown Array rs1180895 1766 8761 0.201575 11 0 16 0 0 - - - - - - - - - - - - - - - - 0.907 - - 6 Y 1 N - - RAB40AL Arg23Ser R23S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745030 1316 8760 0.150228 16 0 26 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RAB40AL Ser28Gly S28G not reviewed Insufficiently evaluated not reviewed unknown Array rs61745026 1113 8759 0.127069 16 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAB40B Gln264Pro Q264P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 4 Y 2 N - - RAB40B Pro263Arg P263R not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RAB40C Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array 314 10746 0.0292202 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB41 Ser190Phe S190F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.238 - - 5 Y 1 N - - RAB6A Val92Phe V92F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - RAB6A Val91Phe V91F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - RAB6C Ala159Thr A159T not reviewed Insufficiently evaluated not reviewed unknown Array rs4662674 6023 10752 0.560175 12 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RAB8A Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RAB9B Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RABEP1 Ser499Arg S499R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 3 - 1 N - - RABEP1 Ser499Asn S499N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - RABEP1 Met628Ile M628I not reviewed Insufficiently evaluated not reviewed unknown Array rs61735455 352 9628 0.03656 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - RABEPK His73Tyr H73Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16927965 1522 10758 0.141476 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.607 - - -1 - 0 N - - RABEPK Ser95Cys S95C not reviewed Insufficiently evaluated not reviewed unknown Array rs34991596 430 10758 0.0399703 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - RABEPK Pro129Gln P129Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - RABGAP1L Ser277Gly S277G not reviewed Insufficiently evaluated not reviewed unknown Array rs7339904 793 10758 0.0737126 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 2 - - RABGGTA Thr420Ala T420A not reviewed Insufficiently evaluated not reviewed unknown Array rs729421 5133 10624 0.483151 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RABL2A Leu119Phe L119F not reviewed Insufficiently evaluated not reviewed unknown Array 190 10748 0.0176777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - RABL2B Asp44Ala D44A not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - RABL3 Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array rs59155676 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - RABL4 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAD1 Glu281Gly E281G not reviewed Insufficiently evaluated not reviewed unknown Array rs1805327 596 10754 0.0554212 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.063 - Y 6 Y 2 - 2 - - RAD1 Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 3 - 3 N - - RAD17 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAD17 Val295Ile V295I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAD17 Val381Ile V381I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAD17 Val392Ile V392I not reviewed Insufficiently evaluated not reviewed unknown Array rs73113070 165 10756 0.0153403 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - RAD17 Ala369Thr A369T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD17 Ala448Thr A448T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD17 Ala534Thr A534T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD17 Ala545Thr A545T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 1 - 0 N - - RAD17 Leu381Arg L381R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAD17 Leu460Arg L460R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAD17 Leu546Arg L546R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - RAD17 Leu557Arg L557R not reviewed Insufficiently evaluated not reviewed unknown Array rs1045051 2578 10758 0.239636 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 1 N - - RAD18 Ile307Val I307V not reviewed Insufficiently evaluated not reviewed unknown Array rs45569933 254 10748 0.0236323 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RAD18 Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array rs373572 7579 10744 0.705417 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RAD18 Glu6Ala E6A not reviewed Insufficiently evaluated not reviewed unknown Array 44 10754 0.0040915 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 3 - 3 - 2 - - RAD21 Asp414Glu D414E not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAD21 Ala107Val A107V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAD21 Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD21L1 Cys90Arg C90R not reviewed Insufficiently evaluated not reviewed unknown Array rs450739 1788 3234 0.552876 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RAD21L1 Ile152Leu I152L not reviewed Insufficiently evaluated not reviewed unknown Array rs203534 1869 3224 0.579715 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RAD21L1 His423Pro H423P not reviewed Insufficiently evaluated not reviewed unknown Array 268 3234 0.0828695 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RAD23A Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array rs73505386 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 6 Y 0 N - - RAD23A Thr131Ala T131A not reviewed Insufficiently evaluated not reviewed unknown Array rs11558955 568 10758 0.0527979 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RAD23B Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805329 1469 10758 0.13655 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RAD50 Gly330Ala G330A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - RAD50 Gly469Ala G469A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 1 - 2 - - RAD50 Arg1027Ile R1027I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - 7 Y 0 N - - RAD50 Arg888Ile R888I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAD50 Leu1073Phe L1073F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - RAD50 Leu934Phe L934F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD51AP1 Lys68Gln K68Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34810644 275 10756 0.0255671 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.656 - - -2 - 1 N - - RAD51AP1 Val241Ala V241A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAD51AP1 Val258Ala V258A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAD51AP1 Gly294Arg G294R not reviewed Insufficiently evaluated not reviewed unknown Array rs73255448 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAD51AP1 Gly311Arg G311R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - RAD51AP2 Gly1037Asp G1037D not reviewed Insufficiently evaluated not reviewed unknown Array rs834514 4938 9560 0.516527 37 0 56 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 1 N - - RAD51AP2 Arg976His R976H not reviewed Insufficiently evaluated not reviewed unknown Array rs17314548 306 9462 0.0323399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - RAD51AP2 Val876Leu V876L not reviewed Insufficiently evaluated not reviewed unknown Array rs17380212 302 9410 0.0320935 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.242 - - 0 - 1 N - - RAD51AP2 Lys855Met K855M not reviewed Insufficiently evaluated not reviewed unknown Array 2 9450 0.00021164 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - 4 Y 1 N - - RAD51AP2 Thr531Ile T531I not reviewed Insufficiently evaluated not reviewed unknown Array rs62130403 233 9136 0.0255035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - RAD51C Gly162Glu G162E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - RAD51C Thr287Ala T287A not reviewed Insufficiently evaluated not reviewed unknown Array rs28363317 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 10 - - RAD51L1 Glu135Lys E135K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - RAD51L1 Ser250Ala S250A not reviewed Insufficiently evaluated not reviewed unknown Array rs33929366 111 10756 0.0103198 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.381 - - -1 - 2 - 4 - - RAD51L3 Ala190Thr A190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - RAD51L3 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD51L3 Ala78Thr A78T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD51L3 Arg165Gln R165Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD51L3 Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD51L3 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD52 Arg396Cys R396C not reviewed Insufficiently evaluated not reviewed unknown Array 9 9918 0.000907441 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 8 Y 2 N - - RAD52 Gly125Cys G125C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RAD54B Asn674Lys N674K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 1 - 0 N - - RAD54L Arg534Cys R534C not reviewed Insufficiently evaluated not reviewed unknown Array rs28363240 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 3 - 2 - - RAD9A Lys220Gln K220Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - -2 - 2 N - - RADIL Asp992Asn D992N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RADIL Thr968Ala T968A not reviewed Insufficiently evaluated not reviewed unknown Array rs3816854 787 10016 0.0785743 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RADIL Leu938Pro L938P not reviewed Insufficiently evaluated not reviewed unknown Array rs6966329 2778 9670 0.28728 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RADIL Ser886Gly S886G not reviewed Insufficiently evaluated not reviewed unknown Array rs414035 8763 8810 0.994665 48 0 96 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RADIL Arg733Gln R733Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10488 0.000190694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RADIL His412Asp H412D not reviewed Insufficiently evaluated not reviewed unknown Array rs2292498 2260 10066 0.224518 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RADIL Asp239Asn D239N not reviewed Insufficiently evaluated not reviewed unknown Array rs3763384 2326 10206 0.227905 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RADIL Arg189Trp R189W not reviewed Insufficiently evaluated not reviewed unknown Array 6 9978 0.000601322 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RADIL Gly85Val G85V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RAET1E Val237Leu V237L not reviewed Insufficiently evaluated not reviewed unknown Array rs2342767 4498 10758 0.418107 40 0 59 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 1 N - - RAET1E Phe233Leu F233L not reviewed Insufficiently evaluated not reviewed unknown Array rs73782115 459 10758 0.0426659 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.703 - - 0 - 1 N - - RAET1E Arg194Gly R194G not reviewed Insufficiently evaluated not reviewed unknown Array rs57292884 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 2 - - RAET1E Thr142Ile T142I not reviewed Insufficiently evaluated not reviewed unknown Array rs9371533 5814 10758 0.540435 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RAET1E Ala141Thr A141T not reviewed Insufficiently evaluated not reviewed unknown Array rs9383921 3559 10758 0.330824 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RAET1E Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array rs6925151 3207 10758 0.298104 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - RAET1E Tyr82Asn Y82N not reviewed Insufficiently evaluated not reviewed unknown Array rs2151910 8816 10758 0.819483 54 0 94 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - RAET1E Arg12His R12H not reviewed Insufficiently evaluated not reviewed unknown Array rs9383583 1788 10758 0.166202 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 0 N - - RAET1E Arg2Stop R2X not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAET1G Thr70Arg T70R not reviewed Insufficiently evaluated not reviewed unknown Array rs9397449 1332 10758 0.123815 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - RAET1G Ser68Asn S68N not reviewed Insufficiently evaluated not reviewed unknown Array rs73782146 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAET1G Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 156 10710 0.0145658 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 2 N - - RAET1L Thr147Ile T147I not reviewed Insufficiently evaluated not reviewed unknown Array rs2282236 42 128 0.328125 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RAET1L Leu121Pro L121P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 7 Y 2 N - - RAET1L Tyr113Stop Y113X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAET1L Leu106Arg L106R not reviewed Insufficiently evaluated not reviewed unknown Array rs1555696 27 102 0.264706 13 0 20 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - RAET1L Met85Thr M85T not reviewed Insufficiently evaluated not reviewed unknown Array rs3734727 96 118 0.813559 41 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAET1L Val74Ile V74I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RAET1L Arg26Gly R26G not reviewed Insufficiently evaluated not reviewed unknown Array rs1543547 58 128 0.453125 33 0 47 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - RAG1 His249Arg H249R not reviewed Insufficiently evaluated not reviewed unknown Array rs3740955 5043 10758 0.468767 43 0 61 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 2 - - RAG1 Lys820Arg K820R not reviewed Insufficiently evaluated not reviewed unknown Array rs2227973 1186 10758 0.110244 16 0 19 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - -3 - 2 - 10 - - RAG1 Asp887Asn D887N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.019 Y - -1 - 1 N - - RAG2 Glu293Gly E293G not reviewed Insufficiently evaluated not reviewed unknown Array rs16929093 376 10758 0.0349507 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - RAGE Gln398Arg Q398R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236493 3252 10758 0.302287 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RAGE Lys230Arg K230R not reviewed Insufficiently evaluated not reviewed unknown Array rs34965156 606 10758 0.0563302 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - RAGE Ile218Val I218V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAGE Arg94Stop R94X not reviewed Insufficiently evaluated not reviewed unknown Array rs34931752 612 10756 0.0568985 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - RAI1 Gly90Ala G90A not reviewed Insufficiently evaluated not reviewed unknown Array rs3803763 4441 10710 0.414659 34 0 44 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - RAI1 Pro165Thr P165T not reviewed Insufficiently evaluated not reviewed unknown Array rs11649804 3649 10758 0.339189 23 0 33 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 4 Y 4 - 2 - - RAI1 Ala381Val A381V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.47 Y Y 2 - 3 N - - RAI1 Pro1471Leu P1471L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y 7 Y 2 N - - RAI1 Pro1477His P1477H not reviewed Insufficiently evaluated not reviewed unknown Array rs73297817 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.861 Y Y 5 Y 4 N - - RAI14 Ala36Thr A36T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - RAI14 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array rs17521570 965 10758 0.0897007 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - RAI14 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAI14 Val470Leu V470L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - RAI14 Val491Leu V491L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - RAI14 Val499Leu V499L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 1 - 4 - - RAI14 Val502Leu V502L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - RAI14 Ala841Ser A841S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048944 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAI14 Ala862Ser A862S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048944 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAI14 Ala870Ser A870S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048944 4623 10738 0.430527 39 0 48 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RAI14 Ala873Ser A873S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048944 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAI2 Gly272Ser G272S not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAI2 Met252Val M252V not reviewed Insufficiently evaluated not reviewed unknown Array rs6527818 8757 8761 0.999543 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RALB Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RALGDS Gly658Ser G658S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RALGDS Gly713Ser G713S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10554 0.000473754 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RALGPS1 Ser290Asn S290N not reviewed Insufficiently evaluated not reviewed unknown Array rs55918931 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RALGPS1 Gly383Cys G383C not reviewed Insufficiently evaluated not reviewed unknown Array rs57728614 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 7 Y 0 N - - RALGPS2 Asn89His N89H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RALY Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RALY Val139Met V139M not reviewed Insufficiently evaluated not reviewed unknown Array rs35191085 85 10758 0.0079011 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - RALY Gly215Ser G215S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RALY Gly231Ser G231S not reviewed Insufficiently evaluated not reviewed unknown Array rs11538302 1780 10200 0.17451 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAMP2 Gly20Arg G20R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 2 N - - RAMP3 Trp56Arg W56R not reviewed Insufficiently evaluated not reviewed unknown Array rs2074654 537 10758 0.0499163 9 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 8 - - RANBP17 Tyr760Stop Y760X not reviewed Insufficiently evaluated not reviewed unknown Array rs73323469 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RANBP2 His777Arg H777R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748146 232 10706 0.0216701 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - RANBP2 Thr1576Ser T1576S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - -2 - 1 N - - RANBP2 Glu2496Val E2496V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - RANBP2 Asn2557Ser N2557S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10752 0.00213914 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RANBP2 Gly2692Asp G2692D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RANBP3L Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array rs16902872 18 124 0.145161 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 1 N - - RANBP3L Ala296Val A296V not reviewed Insufficiently evaluated not reviewed unknown Array 990 10758 0.0920245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RANBP3L Ala111Asp A111D not reviewed Insufficiently evaluated not reviewed unknown Array rs35433829 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - RANBP3L Ala136Asp A136D not reviewed Insufficiently evaluated not reviewed unknown Array 175 10756 0.01627 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RANBP3L Thr92Pro T92P not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RANBP3L Thr70Arg T70R not reviewed Insufficiently evaluated not reviewed unknown Array rs1035480 9517 10756 0.884808 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RANBP6 Gln1077Leu Q1077L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RANBP6 Met388Leu M388L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -3 - 2 N - - RANBP9 Thr688Ile T688I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - RANBP9 Met547Thr M547T not reviewed Insufficiently evaluated not reviewed unknown Array rs35960848 93 10754 0.00864794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RANBP9 Val335Met V335M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - RANBP9 Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RANGRF Glu91Gly E91G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - RAP1GAP Arg567His R567H not reviewed Insufficiently evaluated not reviewed unknown Array rs61014678 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - RAP1GAP Arg593His R593H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAP1GAP Arg631His R631H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAP1GAP Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array rs2275363 52 128 0.40625 38 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RAP1GAP Ala171Thr A171T not reviewed Insufficiently evaluated not reviewed unknown Array rs2275363 4588 10758 0.426473 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RAPGEF3 Leu618Gln L618Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAPGEF3 Leu660Gln L660Q not reviewed Insufficiently evaluated not reviewed unknown Array 378 10756 0.0351432 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.04 - - 5 Y 0 N - - RAPGEF3 Cys475Tyr C475Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAPGEF3 Cys517Tyr C517Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61709815 306 10758 0.0284439 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.147 - - 6 Y 0 N - - RAPGEF3 Gly332Ser G332S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAPGEF3 Gly374Ser G374S not reviewed Insufficiently evaluated not reviewed unknown Array rs12422983 1443 10758 0.134133 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 0 N - - RAPGEF3 Val218Gly V218G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RAPGEF3 Val260Gly V260G not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RAPGEF3 Arg151Gly R151G not reviewed Insufficiently evaluated not reviewed unknown Array rs2016123 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAPGEF3 Arg193Gly R193G not reviewed Insufficiently evaluated not reviewed unknown Array rs2016123 10648 10650 0.999812 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RAPGEF3 Ala16Pro A16P not reviewed Insufficiently evaluated not reviewed unknown Array rs11168230 3081 10664 0.288916 34 0 41 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - RAPGEF4 Thr167Lys T167K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - RAPGEF4 Thr23Lys T23K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAPGEF4 Asn179Thr N179T not reviewed Insufficiently evaluated not reviewed unknown Array rs57766910 14 9496 0.0014743 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - RAPGEF4 Asn35Thr N35T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAPGEF6 Gln1452Arg Q1452R not reviewed Insufficiently evaluated not reviewed unknown Array rs1291602 9491 10758 0.882227 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RAPGEF6 Gln1006Stop Q1006X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAPH1 Arg600Gln R600Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - RAPSN Arg205Gln R205Q not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.852 Y Y 0 - 4 N - - RAPSN Phe81Leu F81L not reviewed Insufficiently evaluated not reviewed unknown Array rs57878668 203 10756 0.0188732 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.23 Y Y 0 - 4 - 1 - - RAPSN Arg58Cys R58C benign Low clinical importance, Uncertain benign unknown Array rs34312154 837 10758 0.0778026 5 0 5 1 1 ! Y - - 5 Y - - 0 - - - Y - - - 0.995 Y Y 8 Y 4 - 2 0 0 Reported as non-pathogenic polymorphism. RARB Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RARB Arg238His R238H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RARG Ser416Leu S416L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RARG Ser427Leu S427L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229774 801 10758 0.0744562 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - RARRES1 Trp204Arg W204R not reviewed Insufficiently evaluated not reviewed unknown Array rs59436905 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RARRES1 Asp158Val D158V not reviewed Insufficiently evaluated not reviewed unknown Array rs11919919 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 3 - 4 - - RARRES1 Ile93Leu I93L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - RARRES1 Asp42Gly D42G not reviewed Insufficiently evaluated not reviewed unknown Array rs7621322 431 3350 0.128657 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RARRES1 Leu31Phe L31F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - RARRES1 Trp12Cys W12C not reviewed Insufficiently evaluated not reviewed unknown Array 265 2550 0.103922 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 1 N - - RARRES2 Leu72Arg L72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - RARS Val3Ile V3I not reviewed Insufficiently evaluated not reviewed unknown Array rs244903 6536 10544 0.619879 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RARS Ser122Phe S122F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.112 - - 5 Y 0 N - - RARS Val328Ile V328I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10742 0.00316515 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RARS Phe397Tyr F397Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61744940 1284 10758 0.119353 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.157 - - -4 - 0 N - - RARS2 Ile331Val I331V not reviewed Insufficiently evaluated not reviewed unknown Array rs3757370 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - RARS2 Lys52Ile K52I not reviewed Insufficiently evaluated not reviewed unknown Array rs73496064 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - RASA2 Gln708His Q708H not reviewed Insufficiently evaluated not reviewed unknown Array rs61750362 672 10758 0.0624651 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RASA3 Thr779Arg T779R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RASA3 Ser766Leu S766L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RASA3 Val577Met V577M not reviewed Insufficiently evaluated not reviewed unknown Array rs74116414 248 10750 0.0230698 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASAL1 Arg321His R321H not reviewed Insufficiently evaluated not reviewed unknown Array rs1284879 8240 10758 0.765942 52 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RASAL1 Ala93Val A93V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RASAL1 Thr58Met T58M not reviewed Insufficiently evaluated not reviewed unknown Array rs34598602 479 10758 0.044525 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - RASAL1 Val11Leu V11L not reviewed Insufficiently evaluated not reviewed unknown Array rs7960087 323 10740 0.0300745 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - RASAL3 Ala606Thr A606T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 1 - 1 N - - RASD1 Cys278Arg C278R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RASEF Arg262Cys R262C not reviewed Insufficiently evaluated not reviewed unknown Array rs4146960 5457 10748 0.507722 41 0 52 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - RASGEF1A Val242Ile V242I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RASGEF1A Val191Ile V191I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RASGEF1A Gln21Arg Q21R not reviewed Insufficiently evaluated not reviewed unknown Array rs73256069 37 10746 0.00344314 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - RASGEF1B Arg249Trp R249W not reviewed Insufficiently evaluated not reviewed unknown Array rs72876523 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.482 - - 7 Y 1 N - - RASGRF2 Ser753Pro S753P not reviewed Insufficiently evaluated not reviewed unknown Array rs34193571 625 10758 0.0580963 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RASGRF2 Val811Ala V811A not reviewed Insufficiently evaluated not reviewed unknown Array rs73128805 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RASGRP2 Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - RASGRP3 Gly557Arg G557R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RASGRP3 Gly558Arg G558R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RASGRP4 Glu431Lys E431K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASGRP4 Glu523Lys E523K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASGRP4 Glu528Lys E528K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASGRP4 Glu551Lys E551K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASGRP4 Glu586Lys E586K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASGRP4 Glu606Lys E606K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASGRP4 Glu620Lys E620K not reviewed Insufficiently evaluated not reviewed unknown Array rs34377632 475 9898 0.0479895 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - RASGRP4 Ala247Val A247V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RASGRP4 Ala310Val A310V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RASGRP4 Ala330Val A330V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RASGRP4 Ala344Val A344V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RASGRP4 Ile18Thr I18T not reviewed Insufficiently evaluated not reviewed unknown Array rs892055 4143 9798 0.422841 44 0 55 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RASIP1 Ala951Ser A951S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - -1 - 1 N - - RASIP1 Arg601Cys R601C not reviewed Insufficiently evaluated not reviewed unknown Array rs2287922 2816 7838 0.359275 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.977 - - 8 Y 1 N - - RASL10A Ala188Pro A188P not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.441 - - 2 - 1 N - - RASL12 Val172Met V172M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 0 - 0 N - - RASSF1 Ala133Ser A133S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RASSF1 Ala137Ser A137S not reviewed Insufficiently evaluated not reviewed unknown Array rs2073498 785 10758 0.072969 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RASSF1 Ala63Ser A63S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RASSF1 Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RASSF1 Lys21Gln K21Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4688725 351 8148 0.0430781 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RASSF10 Gln302His Q302H not reviewed Insufficiently evaluated not reviewed unknown Array rs4323847 230 10140 0.0226824 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - RASSF10 Cys571Ser C571S not reviewed Insufficiently evaluated not reviewed unknown Array rs55909156 725 9940 0.0729376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RASSF3 Arg232His R232H not reviewed Insufficiently evaluated not reviewed unknown Array rs74098110 390 10758 0.0362521 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - RASSF4 Arg88Gly R88G not reviewed Insufficiently evaluated not reviewed unknown Array rs870957 2472 10758 0.229782 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RASSF4 Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57185992 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - RASSF5 Arg150Cys R150C not reviewed Insufficiently evaluated not reviewed unknown Array 214 9130 0.0234392 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.534 - - 8 Y 1 N - - RASSF5 Arg250Met R250M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RASSF5 Arg403Met R403M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - RASSF6 Ala274Gly A274G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASSF6 Ala306Gly A306G not reviewed Insufficiently evaluated not reviewed unknown Array rs17804499 471 10758 0.0437814 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.725 - - 1 - 1 N - - RASSF6 Ser131Pro S131P not reviewed Insufficiently evaluated not reviewed unknown Array rs12507775 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RASSF6 Ser163Pro S163P not reviewed Insufficiently evaluated not reviewed unknown Array rs12507775 3058 10756 0.284306 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - RASSF6 Leu27Pro L27P not reviewed Insufficiently evaluated not reviewed unknown Array rs72863093 156 10758 0.0145008 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.121 - - 7 Y 0 N - - RASSF7 Pro89Ala P89A not reviewed Insufficiently evaluated not reviewed unknown Array rs2242183 427 10758 0.0396914 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - RASSF7 Arg156Gln R156Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2242182 284 10268 0.0276587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASSF8 Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RASSF9 Ala285Thr A285T not reviewed Insufficiently evaluated not reviewed unknown Array rs7397266 605 9612 0.0629422 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RAVER1 Gly411Ser G411S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAVER2 Val430Leu V430L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732605 190 9568 0.0198579 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAX Asp44Glu D44E not reviewed Insufficiently evaluated not reviewed unknown Array rs2271733 1737 7584 0.229035 15 0 16 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -2 - 3 - 3 - - RAX2 Pro52Leu P52L not reviewed Insufficiently evaluated not reviewed unknown Array 141 10730 0.0131407 2 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - RB1 Leu158Phe L158F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.308 Y Y 0 - 3 N - - RB1CC1 Met234Thr M234T not reviewed Insufficiently evaluated not reviewed unknown Array rs17337252 4371 10758 0.406302 38 0 58 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RB1CC1 Asp221Asn D221N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - RBAK Gly229Glu G229E not reviewed Insufficiently evaluated not reviewed unknown Array rs35352738 500 10758 0.046477 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - RBBP4 Lys180Arg K180R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RBBP4 Lys214Arg K214R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RBBP4 Lys215Arg K215R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RBKS Val19Ala V19A not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.506 - - 2 - 1 N - - RBKS Val15Gly V15G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - RBL1 Ala771Val A771V not reviewed Insufficiently evaluated not reviewed unknown Array rs35814596 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBL2 Tyr210Cys Y210C not reviewed Insufficiently evaluated not reviewed unknown Array rs17800727 2332 10756 0.216809 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - RBL2 Glu607Gly E607G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - RBL2 Ser929Arg S929R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 3 - 2 N - - RBM10 Ala553Pro A553P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM10 Ala631Pro A631P not reviewed Insufficiently evaluated not reviewed unknown Array 118 8761 0.0134688 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM11 Leu116Val L116V not reviewed Insufficiently evaluated not reviewed unknown Array rs409782 7584 9432 0.804071 56 0 95 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RBM11 His233Arg H233R not reviewed Insufficiently evaluated not reviewed unknown Array rs7280643 1325 9872 0.134218 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 1 N - - RBM12B Asn864His N864H not reviewed Insufficiently evaluated not reviewed unknown Array rs16916188 409 9504 0.0430345 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM12B His709Gln H709Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 9640 0.00145228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBM14 Ser194Thr S194T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 1 N - - RBM14 Thr455Ser T455S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10722 0.000279798 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RBM19 Arg921Gln R921Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2075387 2573 10758 0.239171 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RBM19 Leu794Phe L794F not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM19 Thr665Ser T665S not reviewed Insufficiently evaluated not reviewed unknown Array rs2290787 15 124 0.120968 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RBM19 Thr665Ala T665A not reviewed Insufficiently evaluated not reviewed unknown Array rs2290787 881 10758 0.0818925 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RBM19 Ile623Thr I623T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290788 1848 10758 0.171779 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RBM19 His609Arg H609R not reviewed Insufficiently evaluated not reviewed unknown Array rs2290789 1934 10758 0.179773 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RBM19 Gln602Glu Q602E not reviewed Insufficiently evaluated not reviewed unknown Array rs7299217 10696 10758 0.994237 46 0 92 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RBM19 Ala534Thr A534T not reviewed Insufficiently evaluated not reviewed unknown Array rs62621126 261 10758 0.024261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBM19 Pro434Leu P434L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBM19 Lys259Arg K259R not reviewed Insufficiently evaluated not reviewed unknown Array rs10850256 2142 10758 0.199108 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RBM19 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RBM20 Trp768Ser W768S not reviewed Insufficiently evaluated not reviewed unknown Array rs1417635 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBM20 Glu1223Gln E1223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs942077 2535 3234 0.783859 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RBM23 Phe394Leu F394L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM23 Phe412Leu F412L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM23 Phe428Leu F428L not reviewed Insufficiently evaluated not reviewed unknown Array rs1127066 2371 10126 0.23415 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.606 - - 0 - 0 N - - RBM23 Asp150Asn D150N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - RBM23 Asp168Asn D168N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - RBM23 Asp184Asn D184N not reviewed Insufficiently evaluated not reviewed unknown Array 111 9804 0.0113219 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - -1 - 2 - 3 - - RBM24 Val137Ile V137I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10710 0.000933706 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - RBM24 Val79Ile V79I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RBM24 Val92Ile V92I not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RBM28 Ser712Leu S712L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - RBM28 Trp188Leu W188L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - RBM28 Asp187Gly D187G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - RBM28 Asn94Thr N94T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733108 400 10752 0.0372024 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.665 - - 1 - 2 - 1 - - RBM33 Thr574Ala T574A not reviewed Insufficiently evaluated not reviewed unknown Array rs3735576 3364 10042 0.334993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RBM4 Ser266Phe S266F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RBM42 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - RBM43 Lys60Asn K60N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - RBM45 Arg218Gly R218G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 6 Y 0 N - - RBM46 Ile126Met I126M not reviewed Insufficiently evaluated not reviewed unknown Array rs79167802 128 10758 0.0118981 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - RBM46 Asn406Lys N406K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - RBM47 Met496Val M496V not reviewed Insufficiently evaluated not reviewed unknown Array rs278981 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM47 Met565Val M565V not reviewed Insufficiently evaluated not reviewed unknown Array rs278981 8015 10758 0.745027 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RBM47 Pro451Gln P451Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBM47 Pro520Gln P520Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - RBM47 Tyr371Phe Y371F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -4 - 2 N - - RBM5 Lys163Asn K163N not reviewed Insufficiently evaluated not reviewed unknown Array rs56783610 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 3 - 2 - - RBM7 Arg190His R190H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - RBM9 Thr367Met T367M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM9 Thr370Met T370M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM9 His8Gln H8Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBMS1 Glu249Asp E249D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - RBMS1 Glu249Val E249V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 5 Y 2 N - - RBMS1 Glu249Stop E249X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RBMS2 Asp105Tyr D105Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - RBMX Gly379Arg G379R not reviewed Insufficiently evaluated not reviewed unknown Array rs72615484 1634 8722 0.187342 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RBMX Tyr357His Y357H not reviewed Insufficiently evaluated not reviewed unknown Array 5 59 0.0847458 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RBMX Arg339Gly R339G not reviewed Insufficiently evaluated not reviewed unknown Array 6 51 0.117647 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - RBMX Ser337Asn S337N not reviewed Insufficiently evaluated not reviewed unknown Array rs35899675 1513 8761 0.172697 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 1 N - - RBMX Arg324Pro R324P not reviewed Insufficiently evaluated not reviewed unknown Array 1396 8756 0.159434 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - RBMX Gly158Val G158V not reviewed Insufficiently evaluated not reviewed unknown Array 598 8761 0.068257 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 8 Y 0 N - - RBMX Gly115Arg G115R not reviewed Insufficiently evaluated not reviewed unknown Array 101 8761 0.0115284 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - RBMX Lys9Asn K9N not reviewed Insufficiently evaluated not reviewed unknown Array 251 8761 0.0286497 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.339 - - 1 - 1 N - - RBMX2 Asp176Ala D176A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - RBMXL2 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array rs11041170 2492 10750 0.231814 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RBMXL2 Thr134Ala T134A not reviewed Insufficiently evaluated not reviewed unknown Array 3025 3092 0.978331 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RBMXL3 Pro145Arg P145R not reviewed Insufficiently evaluated not reviewed unknown Array rs62601527 261 2243 0.116362 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RBMXL3 Asp278Asn D278N not reviewed Insufficiently evaluated not reviewed unknown Array rs62601529 92 2482 0.0370669 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBMXL3 Ala313Thr A313T not reviewed Insufficiently evaluated not reviewed unknown Array 316 2482 0.127317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RBMXL3 Gly412Ser G412S not reviewed Insufficiently evaluated not reviewed unknown Array rs55718100 306 2471 0.123837 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RBMXL3 Gly466Arg G466R not reviewed Insufficiently evaluated not reviewed unknown Array rs12857270 1666 2482 0.671233 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RBMXL3 Ala640Asp A640D not reviewed Insufficiently evaluated not reviewed unknown Array 315 2482 0.126914 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RBMXL3 Arg723Cys R723C not reviewed Insufficiently evaluated not reviewed unknown Array rs5946294 2357 2482 0.949637 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RBMXL3 Arg778His R778H not reviewed Insufficiently evaluated not reviewed unknown Array 25 2482 0.0100725 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBMXL3 Arg794His R794H not reviewed Insufficiently evaluated not reviewed unknown Array rs80194951 311 2482 0.125302 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RBP1 Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array rs2071386 311 3212 0.0968244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RBP2 Asp114Gly D114G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - RBP3 Arg346His R346H not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - RBP3 Ala263Ser A263S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.657 - - -1 - 1 N - - RBP5 Met115Leu M115L not reviewed Insufficiently evaluated not reviewed unknown Array rs2290237 3430 10758 0.318832 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RBP5 Gly113Arg G113R not reviewed Insufficiently evaluated not reviewed unknown Array rs34814371 405 10758 0.0376464 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.728 - - 6 Y 1 N - - RBP5 Glu70Gln E70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7969705 696 10758 0.064696 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.107 - - -2 - 0 N - - RBP5 Asp19Asn D19N not reviewed Insufficiently evaluated not reviewed unknown Array rs10963 1521 10758 0.141383 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - RBPJL Ser444Arg S444R not reviewed Insufficiently evaluated not reviewed unknown Array rs35220957 159 10734 0.0148127 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBPJL Val481Ala V481A not reviewed Insufficiently evaluated not reviewed unknown Array rs34078698 179 10756 0.0166419 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBPMS Ser190Ile S190I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RBPMS2 Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RC3H1 Pro935Ala P935A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741479 400 10758 0.0371816 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.168 - - 2 - 0 N - - RCAN3 Thr236Asn T236N not reviewed Insufficiently evaluated not reviewed unknown Array rs16829813 280 10758 0.0260271 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - RCBTB1 Ala24Val A24V not reviewed Insufficiently evaluated not reviewed unknown Array rs4942848 6209 10758 0.577152 39 0 53 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - RCBTB2 Asn241Ser N241S not reviewed Insufficiently evaluated not reviewed unknown Array rs73479239 44 10758 0.00408998 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - RCC2 Leu234Val L234V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.52 - - 0 - 1 N - - RCCD1 Ala8Ser A8S not reviewed Insufficiently evaluated not reviewed unknown Array rs4932380 667 9776 0.0682283 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - RCCD1 Leu105Met L105M not reviewed Insufficiently evaluated not reviewed unknown Array 72 9624 0.0074813 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RCHY1 Phe93Leu F93L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - RCN3 Arg250Trp R250W not reviewed Insufficiently evaluated not reviewed unknown Array rs34654230 1200 10752 0.111607 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 1 N - - RCOR2 Thr514Ala T514A not reviewed Insufficiently evaluated not reviewed unknown Array rs320108 4555 4726 0.963817 17 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RCSD1 Ala32Ser A32S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RD3 Arg156Leu R156L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 6 Y 4 N - - RDH10 Cys108Gly C108G not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - RDH11 Ile210Val I210V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RDH12 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17852293 1279 10758 0.118888 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.941 Y Y 0 - 4 - 9 - - RDH13 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RDH13 Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 452 10068 0.0448947 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.308 - - 1 - 1 N - - RDH13 Asn21Lys N21K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RDH13 Asn92Lys N92K not reviewed Insufficiently evaluated not reviewed unknown Array 458 10070 0.0454816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RDH16 Thr73Ser T73S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742012 210 10758 0.0195204 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.18 - - -2 - 0 N - - RDH8 His136Gln H136Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1122206 2099 10758 0.195111 21 0 26 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 1 N - - RDH8 Met202Thr M202T not reviewed Insufficiently evaluated not reviewed unknown Array rs1644731 5496 10758 0.510876 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RDH8 Tyr277His Y277H not reviewed Insufficiently evaluated not reviewed unknown Array rs45503592 97 10758 0.00901654 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.358 - - -1 - 1 N - - RDM1 Cys127Trp C127W not reviewed Insufficiently evaluated not reviewed unknown Array rs2251660 2619 10758 0.243447 28 0 30 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - RDM1 His32Arg H32R not reviewed Insufficiently evaluated not reviewed unknown Array rs2280786 185 10758 0.0171965 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.212 - - 1 - 1 N - - RDM1 Ser13Asn S13N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - REC8 Pro185Leu P185L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RECK Val275Ile V275I not reviewed Insufficiently evaluated not reviewed unknown Array rs16932912 811 10758 0.0753858 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.551 - - -4 - 0 N - - RECK Pro498Ser P498S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - RECK Lys588Asn K588N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 2 N - - RECQL Lys544Met K544M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RECQL Lys487Thr K487T not reviewed Insufficiently evaluated not reviewed unknown Array 188 10756 0.0174786 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RECQL Trp172Stop W172X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RECQL Ser165Cys S165C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RECQL Val102Ile V102I not reviewed Insufficiently evaluated not reviewed unknown Array rs1065751 519 10758 0.0482432 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 7 - - RECQL4 Arg1178Trp R1178W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - RECQL4 Leu1043Pro L1043P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - RECQL4 Glu267Asp E267D not reviewed Insufficiently evaluated not reviewed unknown Array rs4244612 3856 9956 0.387304 31 0 39 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - RECQL4 Ser92Pro S92P not reviewed Insufficiently evaluated not reviewed unknown Array rs2721190 9873 9918 0.995463 53 0 100 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - RECQL5 Ser815Leu S815L not reviewed Insufficiently evaluated not reviewed unknown Array 110 9856 0.0111607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RECQL5 Arg654Trp R654W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RECQL5 Asp480Gly D480G not reviewed Insufficiently evaluated not reviewed unknown Array rs820196 2024 10180 0.198821 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RECQL5 Cys272Phe C272F not reviewed Insufficiently evaluated not reviewed unknown Array 451 10758 0.0419223 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - REEP1 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - REEP6 Val90Leu V90L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - REEP6 Ala150Asp A150D not reviewed Insufficiently evaluated not reviewed unknown Array rs2271412 1 10756 9.2971e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.038 - - 5 Y 1 - 1 - - REG1B Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array rs62640880 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.142 - - -4 - 0 N - - REG1B Arg44His R44H not reviewed Insufficiently evaluated not reviewed unknown Array rs62640882 296 10758 0.0275144 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - REG3G Ala83Ser A83S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - REG4 Asn135His N135H not reviewed Insufficiently evaluated not reviewed unknown Array rs34996202 313 10758 0.0290946 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 1 - 3 - - REG4 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - REG4 Pro87Leu P87L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RELB Thr485Met T485M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RELL1 Asp50Asn D50N not reviewed Insufficiently evaluated not reviewed unknown Array 7 9902 0.000706927 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RELL1 Ala10Ser A10S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -1 - 0 N - - RELL2 Leu133Ile L133I not reviewed Insufficiently evaluated not reviewed unknown Array rs14251 4872 10758 0.452872 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RELL2 Gly196Arg G196R not reviewed Insufficiently evaluated not reviewed unknown Array rs17855844 1873 10758 0.174103 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.614 - - 6 Y 0 N - - RELL2 Gln283Glu Q283E not reviewed Insufficiently evaluated not reviewed unknown Array rs11742646 1893 10756 0.175995 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 1 N - - RELN Gly3244Ser G3244S not reviewed Insufficiently evaluated not reviewed unknown Array rs73714410 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 2 - 1 N - - RELN Ala2371Thr A2371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - RELN Ala1574Thr A1574T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.807 - - 1 - 1 N - - RELN Leu997Val L997V not reviewed Insufficiently evaluated not reviewed unknown Array rs362691 1032 10758 0.0959286 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 0 N - - RELN Thr139Ser T139S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.194 - - -2 - 0 N - - RELT Ile224Thr I224T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - REM1 His28Arg H28R not reviewed Insufficiently evaluated not reviewed unknown Array rs1006459 5178 10758 0.481316 35 0 54 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - REM1 Arg45Trp R45W not reviewed Insufficiently evaluated not reviewed unknown Array rs59730832 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.873 - - 7 Y 3 - 2 - - REM1 Lys253Glu K253E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - REM2 Gly96Ala G96A not reviewed Insufficiently evaluated not reviewed unknown Array rs8014119 1131 10660 0.106098 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - RENBP Phe369Tyr F369Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - RENBP Phe369Ile F369I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - RENBP Asp284Gly D284G not reviewed Insufficiently evaluated not reviewed unknown Array 438 8761 0.0499943 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 4 Y 1 - 9 - - RENBP Ala280Asp A280D not reviewed Insufficiently evaluated not reviewed unknown Array 363 8761 0.0414336 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - REP15 Glu57Asp E57D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - REP15 Asn101Asp N101D not reviewed Insufficiently evaluated not reviewed unknown Array rs929948 10450 10758 0.97137 44 0 50 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - REP15 Glu206Asp E206D not reviewed Insufficiently evaluated not reviewed unknown Array rs12819160 1401 10758 0.130229 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - REPIN1 Arg34Gly R34G not reviewed Insufficiently evaluated not reviewed unknown Array rs10237887 523 9920 0.0527218 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - REPIN1 Leu14Pro L14P not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - REPIN1 Leu71Pro L71P not reviewed Insufficiently evaluated not reviewed unknown Array rs3735165 3573 9662 0.369799 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - REPIN1 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array rs17173702 1993 10444 0.190827 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - REPIN1 Arg92His R92H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 1 - 2 N - - REPIN1 Ala154Val A154V not reviewed Insufficiently evaluated not reviewed unknown Array rs17173703 1953 10446 0.186962 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - REPIN1 Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - REPS1 Val690Ile V690I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - REPS1 Val716Ile V716I not reviewed Insufficiently evaluated not reviewed unknown Array 1769 10758 0.164436 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RERE His253Asn H253N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RERE His807Asn H807N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RERGL Met163Val M163V not reviewed Insufficiently evaluated not reviewed unknown Array rs941048 1304 10758 0.121212 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - RESP18 Ala175Thr A175T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731895 91 3234 0.0281385 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RESP18 Glu53Lys E53K not reviewed Insufficiently evaluated not reviewed unknown Array rs2385405 1234 3222 0.382992 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RESP18 Glu30Asp E30D not reviewed Insufficiently evaluated not reviewed unknown Array rs2385404 1241 3222 0.385164 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - REST Asp139Gly D139G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - REST Val626Ile V626I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228991 719 10730 0.0670084 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - REST Glu692Asp E692D not reviewed Insufficiently evaluated not reviewed unknown Array rs2227902 831 10758 0.0772448 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - REST Lys762Gln K762Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2227903 815 10758 0.0757576 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - REST Pro797Leu P797L not reviewed Insufficiently evaluated not reviewed unknown Array rs3796529 2262 10758 0.210262 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RET Ala247Asp A247D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 2 - - RET Asp489Asn D489N not reviewed Insufficiently evaluated not reviewed unknown Array rs9282834 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -1 - 3 - 7 - - RET Gly691Ser G691S not reviewed Insufficiently evaluated not reviewed unknown Array rs1799939 1681 10758 0.156256 14 0 15 2 2 - - - - - - - - - - - - Y - - - 0.16 Y Y 2 - 3 - 10 - - RETNLB Thr92Pro T92P not reviewed Insufficiently evaluated not reviewed unknown Array 1063 10758 0.0988102 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 1 N - - RETNLB Ala77Gly A77G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - RETNLB Cys76Trp C76W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RETNLB Asp37Asn D37N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - -1 - 1 N - - RETNLB Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array rs11708527 2568 10758 0.238706 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 1 N - - RETNLB Ser5Phe S5F not reviewed Insufficiently evaluated not reviewed unknown Array rs34125628 425 10758 0.0395055 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.342 - - 5 Y 1 N - - RETSAT Arg604Trp R604W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 7 Y 0 N - - RETSAT Pro559Thr P559T not reviewed Insufficiently evaluated not reviewed unknown Array rs13384912 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 1 - 3 - - RETSAT Gly536Arg G536R not reviewed Insufficiently evaluated not reviewed unknown Array rs28418594 755 10758 0.0701803 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - RETSAT Ala533Val A533V not reviewed Insufficiently evaluated not reviewed unknown Array rs4832169 1975 10758 0.183584 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.266 - - 2 - 0 N - - RETSAT Ala432Val A432V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - REV1 Asn373Ser N373S not reviewed Insufficiently evaluated not reviewed unknown Array rs3087399 1794 10758 0.16676 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - REV1 Phe257Ser F257S not reviewed Insufficiently evaluated not reviewed unknown Array rs3087386 6490 10758 0.603272 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - REV1 Val138Met V138M not reviewed Insufficiently evaluated not reviewed unknown Array rs3087403 3000 10758 0.278862 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - REV3L Val3064Ile V3064I not reviewed Insufficiently evaluated not reviewed unknown Array rs3204953 1158 10758 0.107641 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.417 - - -4 - 0 N - - REV3L Arg1970His R1970H not reviewed Insufficiently evaluated not reviewed unknown Array rs3218606 98 10758 0.0091095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 10 - - REV3L Pro1791Ser P1791S not reviewed Insufficiently evaluated not reviewed unknown Array rs17539651 428 10758 0.0397843 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 4 - - REV3L Asp1360Ala D1360A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - REV3L Thr1224Ile T1224I not reviewed Insufficiently evaluated not reviewed unknown Array rs462779 7369 10756 0.685106 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - REV3L Ser1220Leu S1220L not reviewed Insufficiently evaluated not reviewed unknown Array rs3218600 348 10756 0.032354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 6 Y 2 - 10 - - REV3L Tyr1156Cys Y1156C not reviewed Insufficiently evaluated not reviewed unknown Array rs458017 650 10756 0.0604314 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - REV3L His1082Leu H1082L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - REV3L Phe405Tyr F405Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61756665 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -4 - 2 N - - REXO1 Arg1186Ser R1186S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10690 9.3545e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.191 - - 3 - 0 N - - REXO1 Arg1005Trp R1005W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - REXO1 Ser886Gly S886G not reviewed Insufficiently evaluated not reviewed unknown Array rs2396359 3386 10746 0.315094 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - REXO1 Ser856Thr S856T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -2 - 2 N - - REXO1 Ser759Pro S759P not reviewed Insufficiently evaluated not reviewed unknown Array rs4807145 8186 10756 0.761064 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - REXO1 Glu642Lys E642K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 1 - 1 - - REXO1 Val408Ala V408A not reviewed Insufficiently evaluated not reviewed unknown Array rs10415018 1881 10684 0.176058 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - REXO1 Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10586 0.00604572 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - REXO1 Ser39Pro S39P not reviewed Insufficiently evaluated not reviewed unknown Array rs12984809 2401 2900 0.827931 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - REXO4 Thr283Ala T283A not reviewed Insufficiently evaluated not reviewed unknown Array rs2285486 679 10758 0.0631158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 1 - 2 - 1 - - REXO4 Arg141Lys R141K not reviewed Insufficiently evaluated not reviewed unknown Array rs6597630 1289 10758 0.119818 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RFC1 Ile598Val I598V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 1 - 4 - - RFC1 Gln208His Q208H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - RFFL Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array rs34747500 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RFK Ile1Met I1M not reviewed Insufficiently evaluated not reviewed unknown Array rs2490582 10467 10476 0.999141 34 0 68 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RFNG His288Gln H288Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12948507 7038 10758 0.654211 46 0 67 0 0 - - - - - - - - - - - - - - - - 0.384 - - -1 - 0 N - - RFNG His288Arg H288R not reviewed Insufficiently evaluated not reviewed unknown Array 332 10758 0.0308608 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.384 - - 1 - 1 N - - RFPL1 Ser93Ile S93I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - RFPL1 Trp94Arg W94R not reviewed Insufficiently evaluated not reviewed unknown Array rs16987627 2113 10758 0.196412 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RFPL1 Met127Thr M127T not reviewed Insufficiently evaluated not reviewed unknown Array rs3804076 3424 10758 0.318275 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - RFPL1 Phe137Ile F137I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - RFPL1 Leu138Phe L138F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 0 - 2 N - - RFPL1 Arg148Stop R148X not reviewed Insufficiently evaluated not reviewed unknown Array rs16987628 186 10758 0.0172895 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - RFPL1 Glu161Lys E161K not reviewed Insufficiently evaluated not reviewed unknown Array rs60550593 83 10758 0.00771519 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - RFPL1 Gln243Stop Q243X not reviewed Insufficiently evaluated not reviewed unknown Array rs12484086 1946 10756 0.180922 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - RFPL1 Val311Phe V311F not reviewed Insufficiently evaluated not reviewed unknown Array rs61734571 184 10758 0.0171035 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.825 - - 3 - 1 N - - RFPL2 Val258Ile V258I not reviewed Insufficiently evaluated not reviewed unknown Array rs136467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RFPL2 Val287Ile V287I not reviewed Insufficiently evaluated not reviewed unknown Array rs136467 61 120 0.508333 33 0 49 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RFPL2 Val348Ile V348I not reviewed Insufficiently evaluated not reviewed unknown Array rs136467 3970 10472 0.379106 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RFPL2 Arg251Cys R251C not reviewed Insufficiently evaluated not reviewed unknown Array rs136468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RFPL2 Arg280Cys R280C not reviewed Insufficiently evaluated not reviewed unknown Array rs136468 62 120 0.516667 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RFPL2 Arg341Cys R341C not reviewed Insufficiently evaluated not reviewed unknown Array rs136468 4305 10682 0.403014 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - RFPL2 Ser234Gly S234G not reviewed Insufficiently evaluated not reviewed unknown Array rs136470 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RFPL2 Ser263Gly S263G not reviewed Insufficiently evaluated not reviewed unknown Array rs136470 64 126 0.507936 37 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RFPL2 Ser324Gly S324G not reviewed Insufficiently evaluated not reviewed unknown Array rs136470 5273 10758 0.490147 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - RFPL2 Thr200Ser T200S not reviewed Insufficiently evaluated not reviewed unknown Array rs136472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFPL2 Thr229Ser T229S not reviewed Insufficiently evaluated not reviewed unknown Array rs71326515 66 126 0.52381 37 0 56 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RFPL2 Thr290Ser T290S not reviewed Insufficiently evaluated not reviewed unknown Array rs136472 5354 10754 0.497861 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RFPL2 Gln125His Q125H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - RFPL2 Gln154His Q154H not reviewed Insufficiently evaluated not reviewed unknown Array rs56240743 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 3 - - RFPL2 Gln215His Q215H not reviewed Insufficiently evaluated not reviewed unknown Array 624 10758 0.0580033 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 1 - 3 - - RFPL2 Cys141Tyr C141Y not reviewed Insufficiently evaluated not reviewed unknown Array rs136478 5037 10758 0.46821 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.86 - - 6 Y 1 N - - RFPL2 Cys51Tyr C51Y not reviewed Insufficiently evaluated not reviewed unknown Array rs136478 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RFPL2 Cys80Tyr C80Y not reviewed Insufficiently evaluated not reviewed unknown Array rs136478 49 128 0.382812 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RFPL2 Gly134Glu G134E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - RFPL2 Gly44Glu G44E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RFPL2 Gly73Glu G73E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RFPL2 Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array rs8135276 1528 10758 0.142034 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RFPL2 Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array rs8135276 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFPL2 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array rs8135276 13 106 0.122642 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RFPL2 Arg50Cys R50C not reviewed Insufficiently evaluated not reviewed unknown Array rs108211 4366 7820 0.558312 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - RFPL3 Gln15His Q15H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RFPL3 Thr29Ala T29A not reviewed Insufficiently evaluated not reviewed unknown Array rs57676160 533 10758 0.0495445 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFPL3 Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFPL3 Met54Thr M54T not reviewed Insufficiently evaluated not reviewed unknown Array rs16987625 564 10758 0.0524261 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RFPL3 Met83Thr M83T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RFPL3 Leu110Met L110M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RFPL3 Leu81Met L81M not reviewed Insufficiently evaluated not reviewed unknown Array rs9621427 1100 10758 0.102249 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RFPL3 Asp126Asn D126N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - RFPL3 Asp97Asn D97N not reviewed Insufficiently evaluated not reviewed unknown Array rs9619258 263 10758 0.0244469 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - RFPL3 Tyr152Cys Y152C not reviewed Insufficiently evaluated not reviewed unknown Array rs61747109 824 10754 0.0766227 11 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 5 - - RFPL3 Tyr181Cys Y181C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - RFPL3 Glu170Gln E170Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFPL3 Glu199Gln E199Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFPL3 Arg251Cys R251C not reviewed Insufficiently evaluated not reviewed unknown Array 4167 10758 0.38734 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RFPL3 Arg280Cys R280C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RFPL4A Ala137Thr A137T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFPL4B Gly234Asp G234D not reviewed Insufficiently evaluated not reviewed unknown Array rs11153361 2330 10758 0.216583 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RFT1 Ala326Gly A326G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.548 Y Y 1 - 3 N - - RFT1 Tyr262Asp Y262D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - RFT1 Ala185Thr A185T not reviewed Insufficiently evaluated not reviewed unknown Array rs35221142 590 10758 0.0548429 11 0 12 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 1 - 3 N - - RFTN1 Val421Ile V421I not reviewed Insufficiently evaluated not reviewed unknown Array rs11554130 2655 10758 0.246793 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.235 - - -4 - 0 N - - RFTN1 Glu248Lys E248K not reviewed Insufficiently evaluated not reviewed unknown Array rs34276015 390 10758 0.0362521 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 1 - - RFTN1 Val231Gly V231G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RFTN2 Val76Ala V76A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 2 N - - RFWD3 Ile564Val I564V not reviewed Insufficiently evaluated not reviewed unknown Array rs7193541 4890 10758 0.454545 37 0 48 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - RFWD3 Thr90Asn T90N not reviewed Insufficiently evaluated not reviewed unknown Array rs8058922 7827 10758 0.727552 55 0 87 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RFX1 Thr370Ala T370A not reviewed Insufficiently evaluated not reviewed unknown Array rs2305780 5853 10620 0.55113 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - RFX2 Phe330Val F330V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RFX2 Phe355Val F355V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RFX2 His166Pro H166P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RFX2 Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array rs2288846 2404 10758 0.223462 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RFX4 Ser604Ala S604A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - RFX4 Ser698Ala S698A not reviewed Insufficiently evaluated not reviewed unknown Array rs17038766 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - RFX5 Glu456Gly E456G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - RFX5 Pro409Arg P409R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233854 1244 10758 0.115635 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 1 - 5 - - RFX6 Ala17Glu A17E not reviewed Insufficiently evaluated not reviewed unknown Array 325 10752 0.0302269 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RFX6 His443Tyr H443Y not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RFX6 Gly790Glu G790E not reviewed Insufficiently evaluated not reviewed unknown Array rs57924353 12 10752 0.00111607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - RFX6 Arg829Pro R829P not reviewed Insufficiently evaluated not reviewed unknown Array rs57748743 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RFX7 Asn1117His N1117H not reviewed Insufficiently evaluated not reviewed unknown Array rs7170589 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RFXANK Glu48Asp E48D not reviewed Insufficiently evaluated not reviewed unknown Array rs34282046 435 10758 0.040435 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - RFXANK Gln228Glu Q228E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - RFXANK Gln251Glu Q251E not reviewed Insufficiently evaluated not reviewed unknown Array rs1802498 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 1 - 4 - - RG9MTD1 Pro56Arg P56R not reviewed Insufficiently evaluated not reviewed unknown Array rs3762735 1403 9636 0.1456 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - RG9MTD2 Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - RG9MTD3 Glu88Asp E88D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - -2 - 2 N - - RGAG1 Ile50Met I50M not reviewed Insufficiently evaluated not reviewed unknown Array 45 8761 0.0051364 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGAG1 Trp1200Arg W1200R not reviewed Insufficiently evaluated not reviewed unknown Array 254 8761 0.0289921 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - RGAG4 Ser420Arg S420R not reviewed Insufficiently evaluated not reviewed unknown Array rs6624595 544 8470 0.0642267 13 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RGL1 Ala351Thr A351T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGL1 Asp398Asn D398N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGL3 Arg615Cys R615C not reviewed Insufficiently evaluated not reviewed unknown Array rs2291516 13 112 0.116071 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - RGL3 Arg621Cys R621C not reviewed Insufficiently evaluated not reviewed unknown Array rs2291516 1121 10746 0.104318 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RGL3 Pro541Leu P541L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGL3 Ala164Val A164V not reviewed Insufficiently evaluated not reviewed unknown Array rs160838 6494 10758 0.603644 50 0 72 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - RGL3 Pro162His P162H not reviewed Insufficiently evaluated not reviewed unknown Array rs167479 4344 10758 0.403793 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - RGL4 Gln24Arg Q24R not reviewed Insufficiently evaluated not reviewed unknown Array rs738786 5333 10758 0.495724 45 0 60 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 0 N - - RGL4 Arg37Cys R37C not reviewed Insufficiently evaluated not reviewed unknown Array rs17003394 835 10758 0.0776167 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RGL4 His241Tyr H241Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2070446 8421 10758 0.782766 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RGL4 Glu297Lys E297K not reviewed Insufficiently evaluated not reviewed unknown Array rs17003398 118 10756 0.0109706 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 2 - - RGL4 Val378Ala V378A not reviewed Insufficiently evaluated not reviewed unknown Array rs1007298 8176 10756 0.760134 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RGL4 Ser405Leu S405L not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - RGMA Ala431Val A431V not reviewed Insufficiently evaluated not reviewed unknown Array rs4778078 2154 9694 0.222199 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RGMA Asp415Glu D415E not reviewed Insufficiently evaluated not reviewed unknown Array rs4238485 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RGMA Ala156Gly A156G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGMB Ser63Arg S63R not reviewed Insufficiently evaluated not reviewed unknown Array rs2662263 2399 2420 0.991322 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RGNEF Trp225Arg W225R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGNEF Pro284Gln P284Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RGNEF Ser544Leu S544L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - RGNEF Arg585Lys R585K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RGNEF Ser632Asn S632N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGNEF His780Asn H780N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGNEF His1640Gln H1640Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1478453 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGPD1 Val1260Leu V1260L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD2 Val517Leu V517L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD3 Glu1287Lys E1287K not reviewed Insufficiently evaluated not reviewed unknown Array 667 3072 0.217122 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RGPD3 Thr1210Ala T1210A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGPD3 Glu115Lys E115K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD3 Asp111Asn D111N not reviewed Insufficiently evaluated not reviewed unknown Array 2243 3234 0.693568 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RGPD3 Arg10Gln R10Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD4 Arg364Cys R364C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RGPD4 Leu518Phe L518F not reviewed Insufficiently evaluated not reviewed unknown Array 26 3234 0.00803958 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD4 Cys525Trp C525W not reviewed Insufficiently evaluated not reviewed unknown Array rs55695893 66 3234 0.0204082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGPD4 Arg528Gly R528G not reviewed Insufficiently evaluated not reviewed unknown Array 2092 3234 0.646877 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RGPD4 Ala580Ser A580S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGPD4 Glu1166Gly E1166G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RGR Ser241Phe S241F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 - 3 - - RGR Ser245Phe S245F not reviewed Insufficiently evaluated not reviewed unknown Array rs61730895 331 10758 0.0307678 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - RGS11 Met406Thr M406T not reviewed Insufficiently evaluated not reviewed unknown Array rs739999 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS11 Met427Thr M427T not reviewed Insufficiently evaluated not reviewed unknown Array rs739999 2658 10756 0.247118 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RGS11 Lys394Arg K394R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RGS11 Lys415Arg K415R not reviewed Insufficiently evaluated not reviewed unknown Array rs57268939 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - RGS11 Arg361His R361H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGS11 Arg382His R382H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10742 0.0013033 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.568 - - 1 - 1 N - - RGS11 Val346Ile V346I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RGS11 Val367Ile V367I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10736 0.00130402 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RGS11 Val330Met V330M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGS11 Val351Met V351M not reviewed Insufficiently evaluated not reviewed unknown Array rs9806942 859 10750 0.079907 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 1 N - - RGS11 Gly280Arg G280R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RGS11 Gly301Arg G301R not reviewed Insufficiently evaluated not reviewed unknown Array rs73486213 176 10654 0.0165196 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.538 - - 6 Y 1 N - - RGS11 Ala30Val A30V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS11 Ala51Val A51V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - RGS12 Ile225Val I225V not reviewed Insufficiently evaluated not reviewed unknown Array rs7679941 460 10758 0.0427589 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - RGS12 Ile238Val I238V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -4 - 1 N - - RGS12 Met277Leu M277L not reviewed Insufficiently evaluated not reviewed unknown Array rs16844152 424 10758 0.0394125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.073 - - -3 - 1 - 3 - - RGS12 Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS12 Val460Met V460M not reviewed Insufficiently evaluated not reviewed unknown Array 504 10754 0.0468663 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - RGS12 Arg633Gln R633Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61748736 424 10758 0.0394125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.913 - - 0 - 2 N - - RGS12 Pro48Ser P48S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RGS12 Pro696Ser P696S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - RGS12 Ala1444Val A1444V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - RGS12 Ala796Val A796V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS13 Leu150Phe L150F not reviewed Insufficiently evaluated not reviewed unknown Array rs16834603 493 10758 0.0458264 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 5 - - RGS14 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 9652 0.0056983 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - RGS16 His137Arg H137R not reviewed Insufficiently evaluated not reviewed unknown Array rs1144566 10506 10758 0.976576 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RGS22 His943Tyr H943Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3133711 29 9664 0.00300083 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 3 - - RGS22 Lys388Asn K388N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - 1 - 1 N - - RGS22 Glu274Asp E274D not reviewed Insufficiently evaluated not reviewed unknown Array rs73702154 409 9502 0.0430436 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - RGS3 Leu7Phe L7F not reviewed Insufficiently evaluated not reviewed unknown Array 24 452 0.0530973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - RGS3 Arg129Lys R129K not reviewed Insufficiently evaluated not reviewed unknown Array rs16933949 590 10326 0.0571373 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.177 - - -3 - 1 - 2 - - RGS3 Arg130Gln R130Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41305473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGS3 Arg528Gln R528Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41305473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGS3 Arg809Gln R809Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41305473 1391 10758 0.129299 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RGS3 Phe43Leu F43L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGS3 Arg64Trp R64W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGS3 Tyr106Cys Y106C not reviewed Insufficiently evaluated not reviewed unknown Array rs12341266 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RGS3 Cys110Trp C110W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGS4 Val143Ile V143I not reviewed Insufficiently evaluated not reviewed unknown Array rs73018737 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RGS4 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RGS4 Val46Ile V46I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RGS7BP Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array rs889248 9237 10758 0.858617 56 0 92 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RGS8 Asn3Ser N3S not reviewed Insufficiently evaluated not reviewed unknown Array rs680277 1824 10758 0.169548 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RGS9 Ser255Leu S255L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - RGS9 Ser258Leu S258L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10160 0.00147638 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 4 - - RGS9BP Ala96Ser A96S not reviewed Insufficiently evaluated not reviewed unknown Array rs259290 4705 7398 0.635983 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.25 - - -1 - 0 N - - RGS9BP Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array rs35413309 201 9194 0.0218621 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - RGSL1 Asp23Asn D23N not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGSL1 Trp256Cys W256C not reviewed Insufficiently evaluated not reviewed unknown Array 211 3234 0.0652443 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RGSL1 Ile683Val I683V not reviewed Insufficiently evaluated not reviewed unknown Array rs7535533 1091 3234 0.337353 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RGSL1 Ser987Phe S987F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RHAG Val270Ile V270I pathogenic Insufficiently evaluated pathogenic recessive Array rs16879498 414 10758 0.038483 3 0 3 1 1 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - This variant was found as a compound heterozygote (with G280R) in a Japanese individual with Rhnull disorder. RHAG Trp222Leu W222L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RHBDD1 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array rs35731955 594 10758 0.0552147 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RHBDD1 Glu128Lys E128K not reviewed Insufficiently evaluated not reviewed unknown Array rs35327472 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - RHBDD3 Trp289Stop W289X not reviewed Insufficiently evaluated not reviewed unknown Array 88 10756 0.00818148 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RHBDF1 Phe710Ser F710S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RHBDF1 Arg265Trp R265W not reviewed Insufficiently evaluated not reviewed unknown Array rs3213511 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 3 - 3 - - RHBDF1 Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array 35 10694 0.00327286 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RHBDF2 Met562Val M562V not reviewed Insufficiently evaluated not reviewed unknown Array 286 10750 0.0266047 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHBDF2 Met591Val M591V not reviewed Insufficiently evaluated not reviewed unknown Array rs73998915 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RHBDF2 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 248 10758 0.0230526 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - RHBDF2 Ala249Thr A249T not reviewed Insufficiently evaluated not reviewed unknown Array rs34814954 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 2 - 1 - - RHBDF2 Pro179Leu P179L not reviewed Insufficiently evaluated not reviewed unknown Array rs3744045 8489 10758 0.789087 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RHBDF2 Pro208Leu P208L not reviewed Insufficiently evaluated not reviewed unknown Array rs3744045 97 128 0.757812 44 0 77 0 0 - - - - - - - - - - - - - - - - 0.057 - - 7 Y 0 N - - RHBDF2 Ala67Ser A67S not reviewed Insufficiently evaluated not reviewed unknown Array rs3809694 32 92 0.347826 18 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RHBDF2 Ser10Arg S10R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHBDL1 Gln30Stop Q30X not reviewed Insufficiently evaluated not reviewed unknown Array 36 10094 0.00356647 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - RHBDL1 Arg400Gln R400Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - RHBDL2 Leu273Met L273M not reviewed Insufficiently evaluated not reviewed unknown Array rs2147914 3916 10758 0.364008 23 0 31 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - RHBDL2 Val190Gly V190G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 8 Y 1 N - - RHBDL2 Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72938840 249 10758 0.0231456 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.11 - - 0 - 0 N - - RHBDL3 Val255Met V255M not reviewed Insufficiently evaluated not reviewed unknown Array rs4795690 1743 10758 0.162019 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RHBDL3 His288Asp H288D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - RHBG Gly76Asp G76D not reviewed Insufficiently evaluated not reviewed unknown Array rs2245623 3999 10758 0.371723 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RHBG Val143Asp V143D not reviewed Insufficiently evaluated not reviewed unknown Array rs11586833 2157 10376 0.207884 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RHBG Gly315Arg G315R not reviewed Insufficiently evaluated not reviewed unknown Array rs3748569 4708 10272 0.458333 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RHCE Val163Ala V163A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - RHCE Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RHCE Val314Ala V314A not reviewed Insufficiently evaluated not reviewed unknown Array rs1132768 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RHCE Leu245Val L245V not reviewed Insufficiently evaluated not reviewed unknown Array rs1053361 811 10758 0.0753858 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RHCE Ala226Pro A226P not reviewed Insufficiently evaluated not reviewed unknown Array rs609320 1517 10758 0.141011 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RHCE Ala85Gly A85G not reviewed Insufficiently evaluated not reviewed unknown Array 203 9594 0.0211591 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - RHCE Cys16Trp C16W not reviewed Insufficiently evaluated not reviewed unknown Array rs586178 2718 10672 0.254685 26 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RHCG Arg202Cys R202C not reviewed Insufficiently evaluated not reviewed unknown Array rs17807723 1105 10758 0.102714 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.14 - - 8 Y 0 N - - RHD Gly263Arg G263R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 1 - 8 - - RHD Lys267Met K267M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 6 - - RHD Met379Thr M379T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740966 202 3700 0.0545946 46 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - RHD Gly385Ala G385A not reviewed Insufficiently evaluated not reviewed unknown Array 15 9624 0.0015586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 10 - - RHEB Arg161Stop R161X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RHEBL1 Glu133Stop E133X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RHOBTB1 His499Gln H499Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - RHOBTB3 Asn262Asp N262D not reviewed Insufficiently evaluated not reviewed unknown Array rs34899 4384 10758 0.407511 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RHOD Cys134Arg C134R not reviewed Insufficiently evaluated not reviewed unknown Array rs4930409 10756 10758 0.999814 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RHOJ Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RHOT2 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array rs11557858 2629 10740 0.244786 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RHOT2 Ala203Val A203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RHOT2 Arg245Gln R245Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1139897 1849 10704 0.172739 15 0 20 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - RHOT2 Arg425Cys R425C not reviewed Insufficiently evaluated not reviewed unknown Array rs3177338 5175 10738 0.481933 39 0 59 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 1 N - - RHOT2 Leu520Phe L520F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10724 0.000279746 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - RHOT2 Ala533Thr A533T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745203 211 10728 0.0196682 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RHOXF1 Arg172His R172H not reviewed Insufficiently evaluated not reviewed unknown Array rs2301977 12 8761 0.00136971 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - RHOXF2 Cys151Arg C151R not reviewed Insufficiently evaluated not reviewed unknown Array rs40785 28 5502 0.00508906 22 0 42 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - RHOXF2 Asp93Asn D93N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RHOXF2 Arg151Cys R151C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RHOXF2 Leu176Phe L176F not reviewed Insufficiently evaluated not reviewed unknown Array 28 7541 0.00371304 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - RHOXF2 Asp235Gly D235G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RHOXF2B Cys151Arg C151R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RHOXF2B Asp93Asn D93N not reviewed Insufficiently evaluated not reviewed unknown Array rs40786 2 85 0.0235294 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RHOXF2B Arg151Cys R151C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - RHOXF2B Leu176Phe L176F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - RHOXF2B Asp235Gly D235G not reviewed Insufficiently evaluated not reviewed unknown Array 15 762 0.019685 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RHPN2 Arg518Cys R518C not reviewed Insufficiently evaluated not reviewed unknown Array 255 10758 0.0237033 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RHPN2 Ser506Leu S506L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - 6 Y 0 N - - RHPN2 Tyr454Asp Y454D not reviewed Insufficiently evaluated not reviewed unknown Array 269 10758 0.0250046 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - RHPN2 Gln384Arg Q384R not reviewed Insufficiently evaluated not reviewed unknown Array 2994 10758 0.278305 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 1 N - - RHPN2 Gln378Stop Q378X not reviewed Insufficiently evaluated not reviewed unknown Array 1987 10758 0.1847 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - RHPN2 Ala342Pro A342P not reviewed Insufficiently evaluated not reviewed unknown Array rs28407794 199 10758 0.0184979 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.216 - - 2 - 1 N - - RHPN2 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28626308 611 10758 0.0567949 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 1 N - - RIBC1 Pro116Thr P116T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 4 Y 2 N - - RIBC2 Arg180Cys R180C not reviewed Insufficiently evaluated not reviewed unknown Array rs2142661 20 126 0.15873 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.862 - - 8 Y 1 N - - RIBC2 Phe195Leu F195L not reviewed Insufficiently evaluated not reviewed unknown Array rs1022478 50 90 0.555556 26 0 36 0 0 - - - - - - - - - - - - - - - - 0.653 - - 0 - 0 N - - RIBC2 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2072770 7 12 0.583333 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RIC3 Asp170Asn D170N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIC3 Asp351Asn D351N not reviewed Insufficiently evaluated not reviewed unknown Array rs11826236 911 10758 0.0846812 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RIC3 Pro135Ser P135S not reviewed Insufficiently evaluated not reviewed unknown Array rs73411617 436 10758 0.040528 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.293 - - 3 - 1 N - - RIC3 Cys130Tyr C130Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55990541 712 10758 0.0661833 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.232 - - 6 Y 0 N - - RIC3 Gly121Ala G121A not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 2 N - - RICS Ser1498Thr S1498T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RICS Ser1847Thr S1847T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RICS Lys337Ile K337I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RICTOR Pro1668Leu P1668L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.78 - - 7 Y 1 N - - RICTOR Ser837Phe S837F not reviewed Insufficiently evaluated not reviewed unknown Array rs2043112 3898 10758 0.362335 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - RIF1 Gly836Ser G836S not reviewed Insufficiently evaluated not reviewed unknown Array rs2444263 6825 10758 0.634412 52 0 76 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RIF1 Val1362Met V1362M not reviewed Insufficiently evaluated not reviewed unknown Array rs2123465 6820 10754 0.634183 51 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIF1 Val1862Ile V1862I not reviewed Insufficiently evaluated not reviewed unknown Array rs2444258 817 10758 0.0759435 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - RIF1 Asn2021Tyr N2021Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2444257 7359 10758 0.684049 53 0 82 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RIF1 Leu2418Val L2418V not reviewed Insufficiently evaluated not reviewed unknown Array rs1065177 7338 10756 0.682224 54 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIF1 Glu2443Asp E2443D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - -2 - 1 N - - RILP Arg281Gln R281Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34982553 661 10756 0.0614541 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - RILP Ala81Thr A81T not reviewed Insufficiently evaluated not reviewed unknown Array rs9909321 268 6030 0.0444444 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - RILP Gly20Glu G20E not reviewed Insufficiently evaluated not reviewed unknown Array 7 9242 0.000757411 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 3 - 1 - - RIMBP2 Gly827Arg G827R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 0 N - - RIMBP2 Val691Ile V691I not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RIMBP3 Asn1536His N1536H not reviewed Insufficiently evaluated not reviewed unknown Array rs9618840 44 54 0.814815 18 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIMBP3 Arg1513Cys R1513C not reviewed Insufficiently evaluated not reviewed unknown Array 5 2782 0.00179727 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RIMBP3 Arg1484Lys R1484K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RIMBP3 Ser1314Tyr S1314Y not reviewed Insufficiently evaluated not reviewed unknown Array rs468996 4 32 0.125 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RIMBP3 Pro1307Thr P1307T not reviewed Insufficiently evaluated not reviewed unknown Array 208 7892 0.0263558 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RIMBP3 Cys1136Ser C1136S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMBP3 Asp1091Glu D1091E not reviewed Insufficiently evaluated not reviewed unknown Array 831 8922 0.0931405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RIMBP3 Glu882Asp E882D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIMBP3 Lys437Glu K437E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIMBP3B Glu437Stop E437X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RIMBP3B Glu1091Asp E1091D not reviewed Insufficiently evaluated not reviewed unknown Array rs468588 66 98 0.673469 29 0 57 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RIMBP3B Ile1550Thr I1550T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMBP3C Glu437Stop E437X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RIMBP3C Glu1091Asp E1091D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIMBP3C Ile1550Thr I1550T not reviewed Insufficiently evaluated not reviewed unknown Array rs484252 60 60 1 29 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RIMKLB Asn63Ser N63S not reviewed Insufficiently evaluated not reviewed unknown Array rs61999314 212 9664 0.0219371 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - RIMS1 Ser248Leu S248L not reviewed Insufficiently evaluated not reviewed unknown Array 128 10284 0.0124465 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 6 Y 1 N - - RIMS1 Gly401Ser G401S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - 2 - 1 N - - RIMS1 Ala570Thr A570T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.651 Y - 1 - 2 N - - RIMS1 Arg1371Leu R1371L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.386 Y - 6 Y 2 N - - RIMS2 His96Arg H96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIN1 Arg703Gln R703Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 0 - 1 N - - RIN1 Arg238Gln R238Q not reviewed Insufficiently evaluated not reviewed unknown Array 322 10758 0.0299312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - RIN1 Ala79Thr A79T not reviewed Insufficiently evaluated not reviewed unknown Array 322 9730 0.0330935 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - RIN2 Ser197Thr S197T not reviewed Insufficiently evaluated not reviewed unknown Array rs3803981 1459 9844 0.148212 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RIN3 His215Arg H215R not reviewed Insufficiently evaluated not reviewed unknown Array rs3829947 5660 10758 0.52612 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RIN3 Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array 1489 10752 0.138486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RIN3 Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array rs3742717 1862 10758 0.173081 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RIN3 Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74074811 536 10758 0.0498234 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIN3 Pro477Ser P477S not reviewed Insufficiently evaluated not reviewed unknown Array rs74074812 482 10758 0.0448039 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIN3 Gly613Ala G613A not reviewed Insufficiently evaluated not reviewed unknown Array rs12434929 488 10758 0.0453616 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RING1 Glu335Gly E335G not reviewed Insufficiently evaluated not reviewed unknown Array 206 10718 0.01922 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RINL Arg329Gln R329Q not reviewed Insufficiently evaluated not reviewed unknown Array rs113728915 781 10412 0.0750096 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - RINL Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array rs8110393 5962 9034 0.659951 35 0 61 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - RINT1 Ser40Cys S40C not reviewed Insufficiently evaluated not reviewed unknown Array rs11556986 2192 10758 0.203755 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - RINT1 His613Tyr H613Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -1 - 0 N - - RIOK1 Arg114Gln R114Q not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - RIOK1 Leu295Ile L295I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.244 - - -2 - 1 N - - RIOK1 Leu54Ile L54I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIOK1 Leu295Stop L295X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RIOK1 Leu54Stop L54X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RIOK1 Val134Ile V134I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - RIOK1 Val375Ile V375I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.272 - - -4 - 2 - 2 - - RIOK2 Asn397Ser N397S not reviewed Insufficiently evaluated not reviewed unknown Array rs12188395 919 10758 0.0854248 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIOK2 Thr394Ile T394I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - RIOK2 Gly349Arg G349R not reviewed Insufficiently evaluated not reviewed unknown Array rs160632 6159 10758 0.572504 48 0 61 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RIOK2 Arg155His R155H not reviewed Insufficiently evaluated not reviewed unknown Array rs34916955 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 3 - - RIOK2 Ser96Cys S96C not reviewed Insufficiently evaluated not reviewed unknown Array rs2544773 3285 10758 0.305354 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 1 N - - RIOK3 His398Tyr H398Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - -1 - 0 N - - RIOK3 Arg441Gln R441Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - RIPK2 Ile259Thr I259T not reviewed Insufficiently evaluated not reviewed unknown Array rs2230801 851 10758 0.0791039 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 1 N - - RIPK3 Pro492Gln P492Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3212254 1173 10758 0.109035 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RIPK3 Thr300Met T300M not reviewed Insufficiently evaluated not reviewed unknown Array rs34106261 716 10758 0.0665551 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RIPK3 Glu260Val E260V not reviewed Insufficiently evaluated not reviewed unknown Array rs7153640 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - RIPK4 Pro701Ser P701S not reviewed Insufficiently evaluated not reviewed unknown Array rs35537517 72 10756 0.00669394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIPK4 Met666Val M666V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746891 10549 10756 0.980755 47 0 92 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIPK4 Ala12Gly A12G not reviewed Insufficiently evaluated not reviewed unknown Array 1801 10728 0.167878 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RLF Ser260Cys S260C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - RLF Pro867His P867H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - RLF Asp924Gly D924G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - RLF Leu927Val L927V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - RLF Gly957Asp G957D not reviewed Insufficiently evaluated not reviewed unknown Array rs35042446 241 10758 0.0224019 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - RLF Ile1521Met I1521M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RLF Arg1622Cys R1622C not reviewed Insufficiently evaluated not reviewed unknown Array rs61738846 626 10758 0.0581893 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 0 N - - RLF Pro1629Leu P1629L not reviewed Insufficiently evaluated not reviewed unknown Array rs34123123 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - 7 Y 1 - 2 - - RLF Gln1685Glu Q1685E not reviewed Insufficiently evaluated not reviewed unknown Array rs34141181 444 10758 0.0412716 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - RLF Glu1784Asp E1784D not reviewed Insufficiently evaluated not reviewed unknown Array rs10889205 2251 10758 0.20924 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RLIM Ser617Thr S617T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - RLN1 Asp142Glu D142E not reviewed Insufficiently evaluated not reviewed unknown Array rs57702698 148 10758 0.0137572 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.945 - - -2 - 2 N - - RLN2 Leu106Phe L106F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RLN2 Val73Leu V73L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - RLN3 Gly112Val G112V not reviewed Insufficiently evaluated not reviewed unknown Array rs78161395 1332 10758 0.123815 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.215 - - 8 Y 0 N - - RLTPR Gly845Asp G845D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 4 Y 2 N - - RLTPR Asp857Val D857V not reviewed Insufficiently evaluated not reviewed unknown Array 54 9896 0.00545675 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - RMI1 Asn455Ser N455S not reviewed Insufficiently evaluated not reviewed unknown Array rs1982151 7313 10718 0.68231 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RMND1 Thr132Met T132M not reviewed Insufficiently evaluated not reviewed unknown Array rs3734800 1290 10758 0.119911 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 0 N - - RMND1 Ser42Ile S42I not reviewed Insufficiently evaluated not reviewed unknown Array rs11550103 1099 10758 0.102157 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - RNASE10 Glu36Asp E36D not reviewed Insufficiently evaluated not reviewed unknown Array rs74037153 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - RNASE11 Thr74Ser T74S not reviewed Insufficiently evaluated not reviewed unknown Array rs35818240 919 10758 0.0854248 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RNASE11 Ser21Asn S21N not reviewed Insufficiently evaluated not reviewed unknown Array rs60929188 172 10758 0.0159881 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - RNASE11 Pro5Ser P5S not reviewed Insufficiently evaluated not reviewed unknown Array rs17113756 580 10758 0.0539134 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RNASE3 Thr124Arg T124R not reviewed Insufficiently evaluated not reviewed unknown Array rs2073342 6716 10732 0.625792 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RNASE4 Thr16Ser T16S not reviewed Insufficiently evaluated not reviewed unknown Array rs3748338 1150 10758 0.106897 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.489 - - -2 - 0 N - - RNASE4 Val103Ile V103I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - RNASE6 Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1045922 2283 10758 0.212214 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - RNASE7 Val21Met V21M not reviewed Insufficiently evaluated not reviewed unknown Array rs73585979 22 10756 0.00204537 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.551 - - 0 - 1 N - - RNASE7 Ala103Pro A103P not reviewed Insufficiently evaluated not reviewed unknown Array rs1263872 9219 10758 0.856944 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RNASE7 His116Tyr H116Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1243469 9191 10758 0.854341 56 0 95 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RNASE8 Pro10Ser P10S not reviewed Insufficiently evaluated not reviewed unknown Array rs12437266 38 70 0.542857 20 0 28 0 0 - - - - - - - - - - - - - - - - 0.22 - - 3 - 0 N - - RNASE9 Ser204Pro S204P not reviewed Insufficiently evaluated not reviewed unknown Array rs1243647 8582 10758 0.797732 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RNASE9 Ser209Pro S209P not reviewed Insufficiently evaluated not reviewed unknown Array rs1243647 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNASE9 Phe148Ser F148S not reviewed Insufficiently evaluated not reviewed unknown Array rs12590446 6541 10758 0.608013 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RNASE9 Phe153Ser F153S not reviewed Insufficiently evaluated not reviewed unknown Array rs12590446 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RNASE9 Arg68His R68H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.072 - - 1 - 0 N - - RNASE9 Arg73His R73H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNASE9 Lys41Thr K41T not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNASE9 Lys46Thr K46T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNASEH2A Leu202Ser L202S not reviewed Insufficiently evaluated not reviewed unknown Array rs7247284 768 10758 0.0713887 7 0 8 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - RNASEH2A Asp205Glu D205E not reviewed Insufficiently evaluated not reviewed unknown Array rs62619782 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y -2 - 2 N - - RNASEL Asp541Glu D541E not reviewed Insufficiently evaluated not reviewed unknown Array rs627928 5108 10758 0.474809 34 0 45 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 10 - - RNASEL Arg462Gln R462Q pathogenic Low clinical importance, Uncertain pathogenic other Array rs486907 2991 10758 0.278026 19 0 22 4 4 1 Y - - 2 Y 0 Y 4 - 4 - Y Y - - 0.964 Y - 0 - 4 N 10 0 0 Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases. RNASEN Ser321Leu S321L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RND1 Pro195Thr P195T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 4 Y 0 N - - RNF10 Arg65His R65H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - RNF111 Asn9Lys N9K not reviewed Insufficiently evaluated not reviewed unknown Array rs2899642 3571 10754 0.332062 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF111 Thr467Met T467M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF111 Ala627Val A627V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 2 - 2 N - - RNF112 Leu595Pro L595P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF112 Phe628Leu F628L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF113B Lys200Arg K200R not reviewed Insufficiently evaluated not reviewed unknown Array rs41300600 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - -3 - 2 N - - RNF113B Val92Met V92M not reviewed Insufficiently evaluated not reviewed unknown Array rs16955011 993 10756 0.0923206 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - RNF121 Asp20Glu D20E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10320 0.000678294 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF123 Arg255Cys R255C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RNF123 Arg387Gln R387Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35620248 464 10758 0.0431307 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - RNF123 Arg854His R854H not reviewed Insufficiently evaluated not reviewed unknown Array rs34823813 784 10758 0.072876 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 1 N - - RNF123 Gly1199Ala G1199A not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - RNF125 Arg165Gln R165Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61749945 1011 10758 0.0939766 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 0 N - - RNF126 Val68Met V68M not reviewed Insufficiently evaluated not reviewed unknown Array rs2285751 555 10756 0.0515991 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - RNF130 Thr246Ala T246A not reviewed Insufficiently evaluated not reviewed unknown Array 61 10756 0.00567125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - 1 - 0 N - - RNF133 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs71574716 310 10692 0.0289936 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - RNF135 Ala51Gly A51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - RNF135 His71Gln H71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7225888 1234 7612 0.162112 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - RNF135 Ser108Pro S108P not reviewed Insufficiently evaluated not reviewed unknown Array rs7211440 1049 6808 0.154083 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RNF135 Ser176Cys S176C not reviewed Insufficiently evaluated not reviewed unknown Array rs60501934 61 10758 0.0056702 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RNF138 Lys81Arg K81R not reviewed Insufficiently evaluated not reviewed unknown Array rs7229690 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - RNF144A Thr4Ala T4A not reviewed Insufficiently evaluated not reviewed unknown Array rs364891 8782 10758 0.816323 53 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF145 Leu118Phe L118F not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 0 - 1 N - - RNF145 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF149 Asp356Glu D356E not reviewed Insufficiently evaluated not reviewed unknown Array rs13151 8660 10758 0.804982 48 0 81 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - RNF149 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.342 - - -4 - 1 N - - RNF149 Ser9Gly S9G not reviewed Insufficiently evaluated not reviewed unknown Array rs11123868 3515 8316 0.422679 8 0 13 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - RNF150 Pro159Ser P159S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744460 257 10746 0.0239159 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - RNF151 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62038784 367 9920 0.036996 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - RNF157 Glu596Val E596V not reviewed Insufficiently evaluated not reviewed unknown Array rs59053255 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 3 - 2 - - RNF157 Thr476Ile T476I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - RNF157 Gly208Arg G208R not reviewed Insufficiently evaluated not reviewed unknown Array rs11539879 409 10758 0.0380182 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 2 N - - RNF157 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - RNF160 Ala859Val A859V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF160 Val807Ile V807I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF160 Gly611Cys G611C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF160 Ser573Gly S573G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF160 Ala546Val A546V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - RNF160 Glu508Asp E508D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF160 Leu449Ser L449S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF160 Gln418His Q418H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF167 Val347Leu V347L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - RNF168 Pro401Gln P401Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3796129 5511 10758 0.51227 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.662 - - 4 Y 0 N - - RNF17 Ile167Val I167V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF17 Lys346Asn K346N not reviewed Insufficiently evaluated not reviewed unknown Array rs1451568 2312 10758 0.21491 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - RNF17 Asn367Ser N367S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748313 180 10758 0.0167317 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF17 Ser501Gly S501G not reviewed Insufficiently evaluated not reviewed unknown Array 61 10754 0.00567231 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - RNF17 Ala542Ser A542S not reviewed Insufficiently evaluated not reviewed unknown Array rs34134354 126 10758 0.0117122 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - RNF17 His667Arg H667R not reviewed Insufficiently evaluated not reviewed unknown Array rs9511451 2506 10752 0.233073 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - RNF17 Asn1110Lys N1110K not reviewed Insufficiently evaluated not reviewed unknown Array rs3783082 1306 10750 0.121488 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF17 Glu1380Lys E1380K not reviewed Insufficiently evaluated not reviewed unknown Array rs9507425 2507 10750 0.233209 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.541 - - 0 - 0 N - - RNF17 Ser1459Asn S1459N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - RNF17 Asp1620Tyr D1620Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73461182 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - RNF175 Ile322Asn I322N not reviewed Insufficiently evaluated not reviewed unknown Array rs2405432 9423 9748 0.96666 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RNF175 Ile315Met I315M not reviewed Insufficiently evaluated not reviewed unknown Array rs1339 1526 9830 0.155239 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.855 - - -1 - 1 N - - RNF175 Leu307Phe L307F not reviewed Insufficiently evaluated not reviewed unknown Array rs1337 1477 9824 0.150346 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - RNF175 Met159Val M159V not reviewed Insufficiently evaluated not reviewed unknown Array rs10517577 1712 9852 0.173772 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.395 - - 0 - 0 N - - RNF175 Glu21Lys E21K not reviewed Insufficiently evaluated not reviewed unknown Array 87 4262 0.020413 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RNF181 Tyr118His Y118H not reviewed Insufficiently evaluated not reviewed unknown Array rs6643 1818 10758 0.168991 27 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RNF183 Gln114Arg Q114R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750534 3672 9988 0.367641 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF183 Ala82Thr A82T not reviewed Insufficiently evaluated not reviewed unknown Array rs3750533 3888 10568 0.367903 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF186 Pro208Thr P208T not reviewed Insufficiently evaluated not reviewed unknown Array rs35541730 228 10758 0.0211935 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - 4 Y 2 N - - RNF186 Glu139Gln E139Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 104 0.0480769 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.902 - - -2 - 2 N - - RNF186 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs1541185 2498 10758 0.232199 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 0 N - - RNF187 Pro91Arg P91R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 5 Y 1 N - - RNF19B Pro56Thr P56T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNF2 Pro52Leu P52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RNF20 Glu591Asp E591D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF207 Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array rs12070387 791 10738 0.0736636 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RNF207 Ala421Thr A421T not reviewed Insufficiently evaluated not reviewed unknown Array rs12073329 1324 10638 0.124459 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF207 His426Pro H426P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.944 - - 5 Y 2 N - - RNF207 Arg539Cys R539C not reviewed Insufficiently evaluated not reviewed unknown Array rs55823245 147 10074 0.014592 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 3 - 1 - - RNF207 Asn573Ser N573S not reviewed Insufficiently evaluated not reviewed unknown Array rs709209 4751 10518 0.451702 35 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF207 Gly603Ala G603A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs846111 1919 9656 0.198737 17 0 20 0 0 - - - - - - - - - - - - - - Y Y 0.006 - - 1 - 2 N - - RNF212 Asn3Ser N3S not reviewed Insufficiently evaluated not reviewed unknown Array 214 10724 0.0199552 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Ser407Asn S407N not reviewed Insufficiently evaluated not reviewed unknown Array rs9674961 7090 10758 0.659044 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF213 Arg1018His R1018H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF213 Cys1081Arg C1081R not reviewed Insufficiently evaluated not reviewed unknown Array rs61600413 1234 10758 0.114705 13 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RNF213 Val1911Leu V1911L not reviewed Insufficiently evaluated not reviewed unknown Array rs35332090 1667 10758 0.154954 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF213 Glu1988Gly E1988G not reviewed Insufficiently evaluated not reviewed unknown Array rs61740658 923 10758 0.0857966 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RNF213 Thr2241Asn T2241N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF213 Leu2356Ile L2356I not reviewed Insufficiently evaluated not reviewed unknown Array 576 10758 0.0535415 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RNF213 Leu2455Phe L2455F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Ala2662Val A2662V not reviewed Insufficiently evaluated not reviewed unknown Array rs61747138 229 10758 0.0212865 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 His2764Arg H2764R not reviewed Insufficiently evaluated not reviewed unknown Array rs12944088 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - RNF213 Lys2805Glu K2805E not reviewed Insufficiently evaluated not reviewed unknown Array rs12944385 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Val3101Ile V3101I not reviewed Insufficiently evaluated not reviewed unknown Array rs8072774 1681 10758 0.156256 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RNF213 Glu3257Ala E3257A not reviewed Insufficiently evaluated not reviewed unknown Array rs61429875 753 10758 0.0699944 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RNF214 Ser516Pro S516P not reviewed Insufficiently evaluated not reviewed unknown Array 19 9846 0.00192972 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 2 N - - RNF215 Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array rs5749088 2103 10758 0.195482 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF216 Gly156Ala G156A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RNF216 Gly213Ala G213A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF217 Val89Ile V89I not reviewed Insufficiently evaluated not reviewed unknown Array rs475076 288 10758 0.0267708 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RNF217 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array rs73580047 61 10758 0.0056702 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.448 - - 1 - 1 N - - RNF219 Asp479Asn D479N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10754 0.00204575 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - RNF220 Ser442Arg S442R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - RNF222 Ala133Thr A133T not reviewed Insufficiently evaluated not reviewed unknown Array rs12601362 550 2748 0.200146 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RNF222 Pro114Ser P114S not reviewed Insufficiently evaluated not reviewed unknown Array rs12601265 2272 2862 0.79385 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RNF25 Arg426Trp R426W not reviewed Insufficiently evaluated not reviewed unknown Array rs59377638 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RNF25 Gly102Cys G102C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.386 - - 7 Y 1 N - - RNF26 Glu360Asp E360D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - -2 - 0 N - - RNF31 Val1036Leu V1036L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10166 0.00698406 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF31 Val1061Ile V1061I not reviewed Insufficiently evaluated not reviewed unknown Array rs2277484 20 9768 0.0020475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 1 N - - RNF32 Ile257Thr I257T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF32 Arg259Gln R259Q not reviewed Insufficiently evaluated not reviewed unknown Array 226 10758 0.0210076 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RNF32 Arg288Gln R288Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302148 579 10758 0.0538204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 0 N - - RNF32 His291Gln H291Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302147 4225 10758 0.392731 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - RNF32 Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array rs2302146 4224 10758 0.392638 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 0 N - - RNF39 Glu338Gly E338G not reviewed Insufficiently evaluated not reviewed unknown Array 98 7086 0.0138301 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF39 Ala304Glu A304E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2301753 1294 7478 0.173041 20 0 24 1 1 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - RNF39 Gly263Cys G263C not reviewed Insufficiently evaluated not reviewed unknown Array rs11753382 596 5802 0.102723 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RNF39 Ala245Thr A245T not reviewed Insufficiently evaluated not reviewed unknown Array rs2301752 181 5264 0.0343845 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF39 Ser203Pro S203P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2074479 1327 7524 0.176369 25 0 30 1 1 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - RNF40 Gln615Arg Q615R not reviewed Insufficiently evaluated not reviewed unknown Array rs7195142 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF43 Pro686Arg P686R not reviewed Insufficiently evaluated not reviewed unknown Array rs9652855 1358 10758 0.126232 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 0 N - - RNF43 Leu418Met L418M not reviewed Insufficiently evaluated not reviewed unknown Array rs2526374 3995 10758 0.371352 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - RNF43 Ala365Thr A365T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10678 0.0001873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF43 Pro231Leu P231L not reviewed Insufficiently evaluated not reviewed unknown Array rs2680701 1609 10758 0.149563 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 1 N - - RNF43 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array rs2257205 1444 10758 0.134226 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 1 N - - RNF43 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array rs3744093 3496 10758 0.324967 31 0 42 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RNF44 Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744235 30 10758 0.00278862 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 1 - - RNF44 Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744391 28 10702 0.00261633 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF6 Ser623Asn S623N not reviewed Insufficiently evaluated not reviewed unknown Array rs17083436 630 10758 0.0585611 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF6 Gly207Cys G207C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 7 Y 0 N - - RNF6 Ile164Thr I164T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - RNF6 Asn48Ser N48S not reviewed Insufficiently evaluated not reviewed unknown Array rs3910433 164 10758 0.0152445 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - RNFT1 Val371Gly V371G not reviewed Insufficiently evaluated not reviewed unknown Array rs73318983 3 9730 0.000308324 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - RNFT1 Val349Phe V349F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - RNFT1 Pro9Ser P9S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNGTT Gly262Asp G262D not reviewed Insufficiently evaluated not reviewed unknown Array 64 10756 0.00595017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - RNGTT Gly17Ala G17A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.856 - - 1 - 2 N - - RNH1 Leu450Arg L450R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.91 - - 6 Y 2 N - - RNH1 Pro170Leu P170L not reviewed Insufficiently evaluated not reviewed unknown Array rs17585 1308 10756 0.121607 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 2 - 5 - - RNLS Ile93Val I93V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 0 N - - RNLS Glu37Asp E37D not reviewed Insufficiently evaluated not reviewed unknown Array rs2296545 5070 10758 0.471277 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - RNMTL1 Ala8Ser A8S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273454 1838 10754 0.170913 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RNMTL1 Gly45Glu G45E not reviewed Insufficiently evaluated not reviewed unknown Array rs2249542 2163 10758 0.20106 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - RNPEP Asn340Lys N340K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - RNPEP Val579Ile V579I not reviewed Insufficiently evaluated not reviewed unknown Array rs3820439 2924 10758 0.271798 25 0 26 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ROBO1 Glu1433Asp E1433D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ROBO1 Glu1488Asp E1488D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ROBO1 Glu1494Asp E1494D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ROBO1 Glu1533Asp E1533D not reviewed Insufficiently evaluated not reviewed unknown Array rs36055689 124 10302 0.0120365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ROBO2 Ala12Glu A12E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 3 - - ROBO2 Lys495Asn K495N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ROBO2 Asn515Ile N515I not reviewed Insufficiently evaluated not reviewed unknown Array 53 9668 0.005482 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.788 Y - 7 Y 2 N - - ROBO3 Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10302 0.000679479 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - ROBO3 Arg416His R416H not reviewed Insufficiently evaluated not reviewed unknown Array rs3862618 812 10480 0.0774809 8 0 10 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 1 - 1 N - - ROBO3 Gly618Ser G618S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10542 0.000379434 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.464 Y - 2 - 2 N - - ROBO3 Pro868Leu P868L not reviewed Insufficiently evaluated not reviewed unknown Array rs55706177 747 7976 0.093656 9 0 11 0 0 2 Y - - - - - - - - - - Y - - - 0.074 Y - 7 Y 1 N - - ROBO4 Pro718Leu P718L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - ROBO4 Arg669Gln R669Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4408324 209 10758 0.0194274 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - ROBO4 Ser592Asn S592N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROBO4 Leu563Phe L563F not reviewed Insufficiently evaluated not reviewed unknown Array rs59946255 244 10758 0.0226808 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROBO4 Arg380Cys R380C not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ROBO4 Gln293Pro Q293P not reviewed Insufficiently evaluated not reviewed unknown Array rs60888551 593 10690 0.0554724 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ROBO4 Val264Gly V264G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ROBO4 Gln54Arg Q54R not reviewed Insufficiently evaluated not reviewed unknown Array rs59648931 3672 10756 0.341391 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ROCK1 Thr773Ser T773S not reviewed Insufficiently evaluated not reviewed unknown Array 106 10752 0.00985863 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ROCK2 Thr431Asn T431N not reviewed Insufficiently evaluated not reviewed unknown Array rs2230774 4252 9408 0.451956 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ROM1 Gly118Ala G118A not reviewed Insufficiently evaluated not reviewed unknown Array rs1799959 10094 10758 0.938278 50 0 91 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 1 - 2 - 1 - - ROMO1 Gly9Arg G9R not reviewed Insufficiently evaluated not reviewed unknown Array rs73905935 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ROMO1 Gly68Cys G68C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - ROPN1B Leu197Val L197V not reviewed Insufficiently evaluated not reviewed unknown Array rs60516581 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.172 - - 0 - 0 N - - ROR1 Thr518Met T518M not reviewed Insufficiently evaluated not reviewed unknown Array rs7527017 2615 10758 0.243075 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - ROR2 Val819Ile V819I not reviewed Insufficiently evaluated not reviewed unknown Array rs10761129 7572 10750 0.704372 50 0 82 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 5 - - ROR2 Asn751Asp N751D not reviewed Insufficiently evaluated not reviewed unknown Array rs73504470 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y -1 - 2 N - - ROR2 Gly695Arg G695R not reviewed Insufficiently evaluated not reviewed unknown Array rs34431454 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - ROR2 His349Asp H349D not reviewed Insufficiently evaluated not reviewed unknown Array rs55983376 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 3 - 2 N - - ROR2 Thr245Ala T245A not reviewed Insufficiently evaluated not reviewed unknown Array rs10820900 7296 10756 0.678319 25 0 35 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 3 - - ROS1 Asn2240Lys N2240K not reviewed Insufficiently evaluated not reviewed unknown Array rs210968 197 10758 0.018312 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 3 - 4 - - ROS1 Ser2229Cys S2229C not reviewed Insufficiently evaluated not reviewed unknown Array rs619203 2133 10758 0.198271 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ROS1 Lys2228Gln K2228Q not reviewed Insufficiently evaluated not reviewed unknown Array rs529156 2133 10758 0.198271 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ROS1 Asp2213Glu D2213E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ROS1 Asp2213Asn D2213N not reviewed Insufficiently evaluated not reviewed unknown Array rs529038 2109 10758 0.19604 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ROS1 Glu1902Lys E1902K not reviewed Insufficiently evaluated not reviewed unknown Array rs9489124 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 1 - 4 - - ROS1 Tyr1353Ser Y1353S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 2 - - ROS1 Arg1311Gln R1311Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - ROS1 Ile537Met I537M not reviewed Insufficiently evaluated not reviewed unknown Array rs28639589 429 10758 0.0398773 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 1 - 2 - - ROS1 Arg167Gln R167Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2243380 728 10758 0.0676706 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 1 N - - ROS1 Thr145Pro T145P not reviewed Insufficiently evaluated not reviewed unknown Array rs1998206 1583 10758 0.147146 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 1 N - - RP1 Thr373Ile T373I pathogenic High clinical importance, Uncertain pathogenic recessive Array 128 10756 0.0119003 3 0 2 2 2 2 Y - - 0 Y 2 Y 4 Y 1 - Y Y - - 0.972 Y - 3 - Retinitis Pigmentosa, Autosomal Dominant 2 151 0 100 INF 5 N 2 2 0 Reported to cause recessive retinitis pigmentosa in some Pakistani families. Because it is unclear whether these families have some common ancestry, and because there may be an uncharacterized linked variant, this pathogenic effect of this variant is considered uncertain. RP1 Arg872His R872H not reviewed Insufficiently evaluated not reviewed unknown Array rs444772 2528 10738 0.235426 21 0 22 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 10 - - RP1 Asn985Tyr N985Y benign Low clinical importance, Uncertain benign undefined Array rs2293869 3751 10758 0.348671 21 0 29 2 2 ! Y - - 4 Y - - - - - - Y Y - - 0.958 Y - 5 Y 4 N 7 0 0 Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant. RP1 Gly1522Asp G1522D not reviewed Insufficiently evaluated not reviewed unknown Array 59 10748 0.00548939 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.94 Y - 4 Y 3 N - - RP1 Ala1670Thr A1670T not reviewed Insufficiently evaluated not reviewed unknown Array rs446227 2195 10758 0.204034 21 0 22 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 2 - 2 - - RP1 Ser1691Pro S1691P not reviewed Insufficiently evaluated not reviewed unknown Array rs414352 2663 10758 0.247537 23 0 24 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 7 - - RP1 Cys2033Tyr C2033Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61739567 3379 10756 0.31415 16 0 24 0 0 - - - - - - - - - - - - Y - - - 0.957 Y - 6 Y 3 - 5 - - RP1L1 Gly2285Arg G2285R not reviewed Insufficiently evaluated not reviewed unknown Array rs55642448 3748 9930 0.377442 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RP1L1 Glu2240Gln E2240Q not reviewed Insufficiently evaluated not reviewed unknown Array 201 9834 0.0204393 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RP1L1 Pro2225Leu P2225L not reviewed Insufficiently evaluated not reviewed unknown Array 201 9718 0.0206833 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RP1L1 Pro2199Leu P2199L not reviewed Insufficiently evaluated not reviewed unknown Array 392 9668 0.0405461 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RP1L1 Glu2171Lys E2171K not reviewed Insufficiently evaluated not reviewed unknown Array rs4354268 4312 9736 0.442892 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RP1L1 Glu2140Lys E2140K not reviewed Insufficiently evaluated not reviewed unknown Array rs72494282 1205 9734 0.123793 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RP1L1 Gln2088His Q2088H not reviewed Insufficiently evaluated not reviewed unknown Array rs11778341 1162 9962 0.116643 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RP1L1 Glu2070Val E2070V not reviewed Insufficiently evaluated not reviewed unknown Array rs11782670 1131 10224 0.110622 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RP1L1 Glu1992Gln E1992Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9992 0.00020016 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RP1L1 Thr1954Ala T1954A not reviewed Insufficiently evaluated not reviewed unknown Array rs11783478 5340 10264 0.520265 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RP1L1 Ala1946Glu A1946E not reviewed Insufficiently evaluated not reviewed unknown Array rs11785822 9454 10240 0.923242 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RP1L1 Asp1889Val D1889V not reviewed Insufficiently evaluated not reviewed unknown Array rs28446662 1961 9928 0.197522 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RP1L1 Glu1882Asp E1882D not reviewed Insufficiently evaluated not reviewed unknown Array 159 9898 0.0160639 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RP1L1 Ala1840Gly A1840G not reviewed Insufficiently evaluated not reviewed unknown Array 363 9890 0.0367037 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RP1L1 Gly1816Asp G1816D not reviewed Insufficiently evaluated not reviewed unknown Array 389 10390 0.0374398 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RP1L1 Ala1709Val A1709V not reviewed Insufficiently evaluated not reviewed unknown Array rs13267180 4538 10132 0.447888 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RP1L1 Glu1636Lys E1636K not reviewed Insufficiently evaluated not reviewed unknown Array 24 9966 0.00240819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RP1L1 Pro1495Arg P1495R not reviewed Insufficiently evaluated not reviewed unknown Array rs4841399 2440 9958 0.245029 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RP1L1 Ala1483Val A1483V not reviewed Insufficiently evaluated not reviewed unknown Array rs62490855 1181 10000 0.1181 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RP1L1 Arg1467Ser R1467S not reviewed Insufficiently evaluated not reviewed unknown Array rs4840498 9639 10144 0.950217 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RP1L1 Glu1340Gly E1340G not reviewed Insufficiently evaluated not reviewed unknown Array rs9657518 1827 9874 0.185031 33 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RP1L1 Gly1335Val G1335V not reviewed Insufficiently evaluated not reviewed unknown Array rs74366179 1407 9884 0.142351 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RP1L1 Gly1335Arg G1335R not reviewed Insufficiently evaluated not reviewed unknown Array rs61503212 1103 9878 0.111662 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RP1L1 Ala1319Gly A1319G not reviewed Insufficiently evaluated not reviewed unknown Array rs4840501 3420 9892 0.345734 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RP1L1 Ala1319Thr A1319T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RP1L1 Gly1185Glu G1185E not reviewed Insufficiently evaluated not reviewed unknown Array 13 10460 0.00124283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RP1L1 Arg1146Trp R1146W not reviewed Insufficiently evaluated not reviewed unknown Array rs4840502 7231 10236 0.706428 47 0 72 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RP1L1 Thr927Asn T927N not reviewed Insufficiently evaluated not reviewed unknown Array 184 9958 0.0184776 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RP1L1 Arg860Trp R860W not reviewed Insufficiently evaluated not reviewed unknown Array rs62490856 973 9070 0.107277 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RP1L1 Leu792Pro L792P not reviewed Insufficiently evaluated not reviewed unknown Array rs35602868 4677 9888 0.472998 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RP1L1 Ser564Cys S564C not reviewed Insufficiently evaluated not reviewed unknown Array 85 10428 0.00815113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RP1L1 Gly514Ser G514S not reviewed Insufficiently evaluated not reviewed unknown Array rs74990397 4368 9822 0.444716 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RP1L1 Arg493Gln R493Q not reviewed Insufficiently evaluated not reviewed unknown Array 185 9760 0.0189549 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RP1L1 Ala487Val A487V not reviewed Insufficiently evaluated not reviewed unknown Array 714 9760 0.0731557 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RP1L1 Pro284Leu P284L not reviewed Insufficiently evaluated not reviewed unknown Array 41 9896 0.00414309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RP1L1 Asn282His N282H not reviewed Insufficiently evaluated not reviewed unknown Array 202 9936 0.0203301 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RP1L1 His222Pro H222P not reviewed Insufficiently evaluated not reviewed unknown Array rs4388421 1527 9840 0.155183 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RP1L1 Thr112Ser T112S not reviewed Insufficiently evaluated not reviewed unknown Array rs6601495 1830 9832 0.186127 22 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RP9 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - RPA1 Thr351Ala T351A not reviewed Insufficiently evaluated not reviewed unknown Array rs5030755 858 10758 0.0797546 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RPA4 Ala33Thr A33T not reviewed Insufficiently evaluated not reviewed unknown Array rs2642219 3653 8761 0.416962 35 0 53 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - RPAIN Asn103Lys N103K not reviewed Insufficiently evaluated not reviewed unknown Array rs12761 2770 10758 0.257483 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RPAIN Ser149Gly S149G not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPAP1 Arg881His R881H not reviewed Insufficiently evaluated not reviewed unknown Array rs61748721 455 10758 0.0422941 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RPAP1 Gln825Glu Q825E not reviewed Insufficiently evaluated not reviewed unknown Array rs8027526 10447 10758 0.971091 43 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RPAP1 Arg549Cys R549C not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RPAP1 Glu506Lys E506K not reviewed Insufficiently evaluated not reviewed unknown Array rs1200345 5905 10758 0.548894 44 0 57 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 1 N - - RPAP1 Arg429Gln R429Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2289741 710 10758 0.0659974 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RPAP1 Val320Met V320M not reviewed Insufficiently evaluated not reviewed unknown Array rs61753586 486 10758 0.0451757 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP1 Lys165Met K165M not reviewed Insufficiently evaluated not reviewed unknown Array rs2297382 1739 10758 0.161647 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - RPE Gln52Lys Q52K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - RPE65 Ala434Val A434V not reviewed Insufficiently evaluated not reviewed unknown Array rs34627040 274 10758 0.0254694 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y 2 - 3 - 6 - - RPGR Val1144Ile V1144I not reviewed Insufficiently evaluated not reviewed unknown Array rs12688514 552 8759 0.0630209 11 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - RPGR Gly566Glu G566E not reviewed Insufficiently evaluated not reviewed unknown Array rs1801688 790 8759 0.0901929 5 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - RPGR Ile431Val I431V not reviewed Insufficiently evaluated not reviewed unknown Array rs62635003 485 8759 0.0553716 3 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - RPGR Arg425Lys R425K not reviewed Insufficiently evaluated not reviewed unknown Array rs1801687 779 8759 0.0889371 5 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - RPGRIP1 Pro96Gln P96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1040904 422 9650 0.0437306 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 4 Y 3 - 1 - - RPGRIP1 Lys192Glu K192E not reviewed Insufficiently evaluated not reviewed unknown Array rs6571751 4714 9756 0.48319 34 0 44 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 3 - - RPGRIP1 Ala547Ser A547S benign Low clinical importance, Uncertain benign other Array rs10151259 2257 9720 0.232202 22 0 25 2 2 2 Y - - 1 Y ! Y - - - - Y Y - - 0.03 Y Y -1 - 4 N 4 0 0 Probably benign. Implicated in causing autosomal recessive cone-rod dystrophy, but a later report found the same incidence in controls and concludes it is not causal. RPGRIP1 Arg598Gln R598Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74034910 140 9908 0.01413 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 0 - 4 N - - RPGRIP1 Glu1033Gln E1033Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3748361 2534 9664 0.26221 23 0 27 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 - 4 - - RPGRIP1 Gly1240Glu G1240E not reviewed Insufficiently evaluated not reviewed unknown Array rs34725281 204 9666 0.0211049 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.31 Y Y 6 Y 3 N - - RPGRIP1L Asp1184Asn D1184N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - RPGRIP1L Asp1264Asn D1264N not reviewed Insufficiently evaluated not reviewed unknown Array rs3213758 445 10758 0.0413646 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - RPGRIP1L Thr1143Ser T1143S not reviewed Insufficiently evaluated not reviewed unknown Array rs73607968 24 502 0.0478088 12 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - RPGRIP1L Gly1025Ser G1025S not reviewed Insufficiently evaluated not reviewed unknown Array rs2111119 1200 10758 0.111545 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - RPGRIP1L Gly991Ser G991S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - RPGRIP1L Arg744Gln R744Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302677 275 10758 0.0255624 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 0 - 4 N - - RPGRIP1L Arg709Leu R709L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - RPGRIP1L Arg444His R444H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.754 Y Y 1 - 3 N - - RPH3A Gln289His Q289H not reviewed Insufficiently evaluated not reviewed unknown Array rs2189473 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPH3A Gln293His Q293H not reviewed Insufficiently evaluated not reviewed unknown Array 369 10426 0.0353923 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - -1 - 1 N - - RPH3A Leu590Arg L590R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RPH3A Leu594Arg L594R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - RPH3AL Leu225Ile L225I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - RPH3AL Ser208Gly S208G not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 2 - 2 N - - RPIA Ser76Phe S76F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.486 Y - 5 Y 3 - 1 - - RPL10 Asn202Ser N202S not reviewed Insufficiently evaluated not reviewed unknown Array rs72616476 5641 8664 0.651085 36 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RPL10A Pro59His P59H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - RPL10L Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array rs61745038 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RPL13 Ala112Thr A112T not reviewed Insufficiently evaluated not reviewed unknown Array rs9930567 1666 10758 0.154861 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RPL14 Lys23Arg K23R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RPL17 Arg61Leu R61L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 6 Y 1 N - - RPL21 Thr68Pro T68P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 4 Y 0 N - - RPL22L1 Val97Phe V97F not reviewed Insufficiently evaluated not reviewed unknown Array 68 9592 0.00708924 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 3 - 3 - - RPL3 His273Pro H273P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPL3 His322Pro H322P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RPL32 Lys64Gln K64Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RPL3L Pro291Leu P291L not reviewed Insufficiently evaluated not reviewed unknown Array rs34265469 428 10756 0.0397917 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RPL7 Gln110Glu Q110E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -2 - 2 N - - RPL7A Ala7Val A7V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - RPLP0 Glu306Asp E306D not reviewed Insufficiently evaluated not reviewed unknown Array rs60656828 14 10742 0.0013033 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.901 - - -2 - 2 N - - RPP21 Gln77His Q77H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPP21 Gln149Lys Q149K not reviewed Insufficiently evaluated not reviewed unknown Array rs974963 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RPP30 His231Pro H231P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPP38 Ala181Gly A181G not reviewed Insufficiently evaluated not reviewed unknown Array rs15772 4478 10758 0.416248 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RPP38 Ser202Arg S202R not reviewed Insufficiently evaluated not reviewed unknown Array rs12249258 454 10758 0.0422012 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RPP38 Arg250Gly R250G not reviewed Insufficiently evaluated not reviewed unknown Array rs34040166 617 10752 0.0573847 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 2 - - RPP40 Val314Ile V314I not reviewed Insufficiently evaluated not reviewed unknown Array rs12332997 375 10758 0.0348578 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RPP40 Ser224Asn S224N not reviewed Insufficiently evaluated not reviewed unknown Array rs62385118 481 10758 0.0447109 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPRD2 Met351Val M351V not reviewed Insufficiently evaluated not reviewed unknown Array rs41273537 852 9912 0.0859564 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RPRD2 Leu1428Phe L1428F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - RPS12 Asp13Val D13V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RPS19BP1 Pro22Ser P22S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPS2 Arg194Ser R194S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.372 - - 3 - 1 N - - RPS3A Gln157Pro Q157P not reviewed Insufficiently evaluated not reviewed unknown Array 27 10698 0.00252384 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 4 Y 2 N - - RPS6KA1 Lys335Thr K335T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPS6KA1 Lys344Thr K344T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229712 1843 10758 0.171314 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RPS6KA2 Thr34Ala T34A not reviewed Insufficiently evaluated not reviewed unknown Array rs943687 10120 10758 0.940695 53 0 99 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RPS6KA2 Glu32Gly E32G not reviewed Insufficiently evaluated not reviewed unknown Array rs9347162 6222 10758 0.57836 37 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RPS6KA4 Ala287Val A287V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736650 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - RPS6KA4 Ser752Ala S752A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPS6KA4 Ser758Ala S758A not reviewed Insufficiently evaluated not reviewed unknown Array rs17857342 1579 8468 0.186467 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RPS6KB2 Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array rs55987642 402 9918 0.0405324 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RPS6KB2 Ala420Val A420V not reviewed Insufficiently evaluated not reviewed unknown Array rs13859 5145 9788 0.525644 41 0 62 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RPS6KC1 Ala534Pro A534P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPS6KC1 Ala546Pro A546P not reviewed Insufficiently evaluated not reviewed unknown Array rs35281247 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - RPS6KC1 Ala664Pro A664P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPS6KC1 Ala676Pro A676P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 2 - 1 N - - RPS6KC1 Leu841Phe L841F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPS6KC1 Leu853Phe L853F not reviewed Insufficiently evaluated not reviewed unknown Array rs34080597 376 10758 0.0349507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPS6KL1 Met218Thr M218T not reviewed Insufficiently evaluated not reviewed unknown Array rs59159618 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPS6KL1 Pro121Leu P121L not reviewed Insufficiently evaluated not reviewed unknown Array rs2286913 2913 10756 0.270826 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - RPS6KL1 Arg21Gln R21Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7156590 3464 10758 0.321993 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 1 N - - RPTN Glu707Gly E707G not reviewed Insufficiently evaluated not reviewed unknown Array 792 7820 0.101279 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.426 - - 6 Y 0 N - - RPTN Ser485Phe S485F not reviewed Insufficiently evaluated not reviewed unknown Array rs72696940 796 7820 0.10179 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.738 - - 5 Y 0 N - - RPTN His246Leu H246L not reviewed Insufficiently evaluated not reviewed unknown Array 3 7820 0.000383631 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RPTN Lys163Arg K163R not reviewed Insufficiently evaluated not reviewed unknown Array 349 7798 0.0447551 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - RPTN Ser161Pro S161P not reviewed Insufficiently evaluated not reviewed unknown Array 268 7784 0.0344296 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.743 - - 3 - 1 N - - RPTN Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array 18 7820 0.00230179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - RPUSD1 Gly270Cys G270C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745562 144 10448 0.0137825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - RPUSD1 Leu247Pro L247P not reviewed Insufficiently evaluated not reviewed unknown Array rs3751672 336 10752 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 3 - 3 - - RPUSD1 Glu124Gln E124Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10722 0.000279798 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 1 - 2 - - RPUSD3 Thr160Ser T160S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RPUSD3 Thr175Ser T175S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - RPUSD4 Glu155Asp E155D not reviewed Insufficiently evaluated not reviewed unknown Array rs34809853 196 10758 0.018219 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.235 - - -2 - 1 N - - RPUSD4 Gln44Arg Q44R not reviewed Insufficiently evaluated not reviewed unknown Array rs2282580 3251 10758 0.302194 33 0 41 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 1 N - - RPUSD4 Pro4Ser P4S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10744 0.0014892 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - RRAD Gln66Pro Q66P not reviewed Insufficiently evaluated not reviewed unknown Array 280 9842 0.0284495 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 4 Y 2 - 5 - - RRAS Arg128Trp R128W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RRBP1 Arg936Lys R936K not reviewed Insufficiently evaluated not reviewed unknown Array rs2229887 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - RRBP1 Arg891Leu R891L not reviewed Insufficiently evaluated not reviewed unknown Array rs1132274 1325 10754 0.12321 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RRBP1 Ala778Thr A778T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RRBP1 Ser766Leu S766L not reviewed Insufficiently evaluated not reviewed unknown Array rs11960 5723 10758 0.531976 29 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RRBP1 His666Tyr H666Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61733413 148 10756 0.0137598 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RRBP1 Cys624Arg C624R not reviewed Insufficiently evaluated not reviewed unknown Array 461 10758 0.0428518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RRBP1 Leu610His L610H not reviewed Insufficiently evaluated not reviewed unknown Array rs6034867 10753 10754 0.999907 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RRBP1 Val337Met V337M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RREB1 Thr90Ala T90A not reviewed Insufficiently evaluated not reviewed unknown Array rs73374662 100 10758 0.00929541 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RREB1 Gly195Arg G195R not reviewed Insufficiently evaluated not reviewed unknown Array rs1334576 4069 10758 0.37823 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RREB1 Gly783Val G783V not reviewed Insufficiently evaluated not reviewed unknown Array rs9502564 3847 10400 0.369904 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RREB1 Arg1155Gln R1155Q not reviewed Insufficiently evaluated not reviewed unknown Array 113 10562 0.0106987 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RREB1 Asp1171Asn D1171N not reviewed Insufficiently evaluated not reviewed unknown Array rs9379084 849 10600 0.0800943 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RREB1 Gly1384Arg G1384R not reviewed Insufficiently evaluated not reviewed unknown Array rs2281833 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RREB1 Gly1439Arg G1439R not reviewed Insufficiently evaluated not reviewed unknown Array rs2281833 1029 10070 0.102185 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RREB1 Leu1467Pro L1467P not reviewed Insufficiently evaluated not reviewed unknown Array rs2256596 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.774 - - 7 Y 1 N - - RREB1 Leu1522Pro L1522P not reviewed Insufficiently evaluated not reviewed unknown Array rs2256596 7778 10570 0.735856 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RREB1 Ser1499Tyr S1499Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 1 N - - RREB1 Ser1554Tyr S1554Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35742417 1903 10758 0.176892 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 1 N - - RRM2 Ala48Ser A48S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RRN3 Ser199Leu S199L not reviewed Insufficiently evaluated not reviewed unknown Array 2627 10758 0.24419 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.742 - - 6 Y 0 N - - RRP1 Pro268Leu P268L not reviewed Insufficiently evaluated not reviewed unknown Array rs58028593 282 10162 0.0277504 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - RRP1 Lys326Arg K326R not reviewed Insufficiently evaluated not reviewed unknown Array rs915770 2274 10218 0.222548 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.047 - - -3 - 0 N - - RRP12 Arg1220Gln R1220Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RRP12 Arg1281Gln R1281Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1048445 2542 10758 0.236289 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RRP12 Gly1084Ser G1084S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275580 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RRP12 Gly1145Ser G1145S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275580 5010 10758 0.4657 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RRP12 Glu800Lys E800K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RRP12 Glu861Lys E861K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - RRP15 Ala32Val A32V not reviewed Insufficiently evaluated not reviewed unknown Array rs34358288 423 10758 0.0393196 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RRP15 Val188Ala V188A not reviewed Insufficiently evaluated not reviewed unknown Array rs58534239 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 2 - 1 N - - RRP1B Met5Val M5V not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - RRP1B Glu248Lys E248K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.461 - - 0 - 1 N - - RRP1B Ala304Ser A304S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - RRP1B Leu436Pro L436P not reviewed Insufficiently evaluated not reviewed unknown Array rs9306160 7573 10744 0.704859 42 0 74 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RRP1B Gly504Asp G504D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737067 651 10736 0.0606371 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - RRP7A Ala243Thr A243T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731241 501 10758 0.04657 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RRP7A Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 1 N - - RRP7A Val88Ile V88I not reviewed Insufficiently evaluated not reviewed unknown Array rs11553441 1246 10758 0.115821 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.676 - - -4 - 0 N - - RRP7A Val85Ile V85I not reviewed Insufficiently evaluated not reviewed unknown Array rs1812240 745 10758 0.0692508 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - RRP7A Leu75Met L75M not reviewed Insufficiently evaluated not reviewed unknown Array rs8139383 1162 10756 0.108033 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.541 - - -3 - 0 N - - RRP8 Ala145Pro A145P not reviewed Insufficiently evaluated not reviewed unknown Array rs11040934 285 10756 0.0264968 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - RRP8 Pro25Ser P25S not reviewed Insufficiently evaluated not reviewed unknown Array rs2659860 210 10730 0.0195713 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - RRP9 Gln124His Q124H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - RRS1 Gln116His Q116H not reviewed Insufficiently evaluated not reviewed unknown Array rs34077648 188 10576 0.0177761 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - RRS1 Arg191Leu R191L not reviewed Insufficiently evaluated not reviewed unknown Array rs3739336 299 10708 0.027923 3 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RSAD1 Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290862 7646 10758 0.710727 40 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RSAD1 Leu126Ser L126S not reviewed Insufficiently evaluated not reviewed unknown Array rs2290861 7645 10758 0.710634 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RSAD1 Glu354Gln E354Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9891176 492 10758 0.0457334 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - RSBN1L Val45Ile V45I not reviewed Insufficiently evaluated not reviewed unknown Array 267 9702 0.0275201 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RSBN1L Tyr458Stop Y458X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RSBN1L Cys728Tyr C728Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 9910 0.000100908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RSC1A1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs35040685 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - RSC1A1 Phe62Leu F62L not reviewed Insufficiently evaluated not reviewed unknown Array rs3766163 33 128 0.257812 22 0 31 0 0 - - - - - - - - - - - - - - - - 0.29 - - 0 - 0 N - - RSF1 Glu756Gln E756Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - RSF1 Ser543Phe S543F not reviewed Insufficiently evaluated not reviewed unknown Array rs72947646 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - RSF1 Ser475Pro S475P not reviewed Insufficiently evaluated not reviewed unknown Array rs7950873 1878 10758 0.174568 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - RSF1 Glu304Asp E304D not reviewed Insufficiently evaluated not reviewed unknown Array rs58758035 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 2 - - RSHL1 Ala632Val A632V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RSHL1 Val316Ile V316I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RSHL1 Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RSL1D1 Ala313Val A313V not reviewed Insufficiently evaluated not reviewed unknown Array rs73509758 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - RSL1D1 Gln308Stop Q308X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RSL1D1 Ser11Phe S11F not reviewed Insufficiently evaluated not reviewed unknown Array rs73509779 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RSPH10B Phe533Cys F533C not reviewed Insufficiently evaluated not reviewed unknown Array rs2711185 8349 10648 0.784091 44 0 86 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RSPH10B Ile226Thr I226T not reviewed Insufficiently evaluated not reviewed unknown Array 945 8160 0.115809 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RSPH10B Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10626 0.000846979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RSPH10B Ser71Thr S71T not reviewed Insufficiently evaluated not reviewed unknown Array rs2711191 5 10570 0.000473036 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RSPH10B Thr765Met T765M not reviewed Insufficiently evaluated not reviewed unknown Array rs2528353 210 9172 0.0228958 12 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RSPH10B2 Phe533Cys F533C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RSPH10B2 Ile226Thr I226T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RSPH10B2 Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RSPH10B2 Ser71Thr S71T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RSPH10B2 Thr765Met T765M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RSPH3 Gly518Asp G518D not reviewed Insufficiently evaluated not reviewed unknown Array rs3756987 1118 10758 0.103923 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RSPH3 Met439Thr M439T not reviewed Insufficiently evaluated not reviewed unknown Array rs768994 844 10728 0.0786726 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - RSPH3 Arg213Gln R213Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34582178 1118 10758 0.103923 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RSPH3 Asn201Ser N201S not reviewed Insufficiently evaluated not reviewed unknown Array rs16889320 894 10758 0.0831009 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.89 - - 0 - 1 N - - RSPH3 Pro155Arg P155R not reviewed Insufficiently evaluated not reviewed unknown Array rs61750776 579 10758 0.0538204 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.194 - - 5 Y 0 N - - RSPH4A Thr149Ser T149S not reviewed Insufficiently evaluated not reviewed unknown Array rs13213314 946 10758 0.0879346 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.013 - Y -2 - 1 N - - RSPH4A Glu377Lys E377K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y 0 - 3 N - - RSPH4A Glu381Asp E381D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 - Y -2 - 1 N - - RSPH4A Glu509Asp E509D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.924 - Y -2 - 3 N - - RSPH4A Arg556His R556H not reviewed Insufficiently evaluated not reviewed unknown Array rs6927567 1793 10758 0.166667 18 0 20 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 1 - 2 N - - RSPH4A Leu589Pro L589P not reviewed Insufficiently evaluated not reviewed unknown Array rs784133 7536 10758 0.700502 47 0 77 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 1 N - - RSPH4A Asn627His N627H not reviewed Insufficiently evaluated not reviewed unknown Array rs9488991 1243 10758 0.115542 17 0 17 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 0 - 2 N - - RSPH4A Ala700Val A700V not reviewed Insufficiently evaluated not reviewed unknown Array rs9488992 355 10758 0.0329987 4 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - RSPH9 Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array rs16896629 681 10758 0.0633017 10 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - RSPO1 Lys162Gln K162Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36043533 403 9904 0.0406906 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.982 - - -2 - 2 N - - RSPO2 Lys219Ile K219I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.689 - - 6 Y 1 N - - RSPO2 Leu186Pro L186P not reviewed Insufficiently evaluated not reviewed unknown Array rs601558 5051 10758 0.469511 30 0 44 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RSPO4 Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6140807 203 10018 0.0202635 10 0 11 0 0 - - - - - - - - - - - - Y - - - 0.01 - - 0 - 0 N - - RSPRY1 Ala320Asp A320D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - RSPRY1 Ile418Val I418V not reviewed Insufficiently evaluated not reviewed unknown Array rs58714624 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - RSU1 Met30Val M30V not reviewed Insufficiently evaluated not reviewed unknown Array rs11539866 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - RTDR1 Arg212Cys R212C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 8 Y 0 N - - RTDR1 Thr42Met T42M not reviewed Insufficiently evaluated not reviewed unknown Array rs35211242 1223 10758 0.113683 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - RTEL1 Thr434Met T434M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10746 0.000651405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTEL1 Arg684Gln R684Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35640778 135 10726 0.0125862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTEL1 Ala929Thr A929T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736615 295 10732 0.0274879 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTEL1 Glu941Asp E941D not reviewed Insufficiently evaluated not reviewed unknown Array rs61736614 363 10734 0.0338178 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RTEL1 Pro1034His P1034H not reviewed Insufficiently evaluated not reviewed unknown Array 162 10650 0.0152113 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RTEL1 Gln1042His Q1042H not reviewed Insufficiently evaluated not reviewed unknown Array rs3208008 8768 10608 0.826546 46 0 82 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RTF1 Asp61Glu D61E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - RTF1 Gln247Lys Q247K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RTF1 Thr422Lys T422K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RTKN2 His462Arg H462R not reviewed Insufficiently evaluated not reviewed unknown Array rs3125734 5918 10758 0.550102 42 0 57 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 0 N - - RTKN2 Gln456His Q456H not reviewed Insufficiently evaluated not reviewed unknown Array rs73281918 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 1 N - - RTKN2 Ala288Thr A288T not reviewed Insufficiently evaluated not reviewed unknown Array rs61850830 916 10758 0.0851459 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - RTL1 Arg1215His R1215H not reviewed Insufficiently evaluated not reviewed unknown Array 44 7770 0.0056628 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTL1 Ala1182Ser A1182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RTL1 Asn1061Ser N1061S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTL1 Ala852Thr A852T not reviewed Insufficiently evaluated not reviewed unknown Array 42 3234 0.012987 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTL1 Glu848Gln E848Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11623267 681 3234 0.210575 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RTN1 Pro519Leu P519L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - RTN1 Pro99Leu P99L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RTN1 Ile357Val I357V not reviewed Insufficiently evaluated not reviewed unknown Array rs35707243 187 10732 0.0174245 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - RTN1 Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTN1 Gly247Glu G247E not reviewed Insufficiently evaluated not reviewed unknown Array rs35645652 309 10758 0.0287228 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - 6 Y 1 - 3 - - RTN2 Gln99Stop Q99X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RTN3 Ala6Glu A6E not reviewed Insufficiently evaluated not reviewed unknown Array rs11551944 1250 10678 0.117063 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RTN3 Glu164Gly E164G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.544 - - 6 Y 1 N - - RTN3 Val452Ala V452A not reviewed Insufficiently evaluated not reviewed unknown Array rs542998 7416 10758 0.689347 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RTN4 Ile718Thr I718T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RTN4 Ile924Thr I924T not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RTN4 Thr244Met T244M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTN4 Thr450Met T450M not reviewed Insufficiently evaluated not reviewed unknown Array rs72912565 205 10756 0.0190591 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - RTN4 Ser234Asn S234N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - RTN4 Ser440Asn S440N not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - RTN4 Asp151Val D151V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RTN4 Asp357Val D357V not reviewed Insufficiently evaluated not reviewed unknown Array rs11677099 176 10752 0.016369 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RTN4 Pro77Ala P77A not reviewed Insufficiently evaluated not reviewed unknown Array 81 7504 0.0107942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTP1 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array rs57195580 338 10752 0.031436 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RTP1 Gln229Glu Q229E not reviewed Insufficiently evaluated not reviewed unknown Array rs6764714 5229 10758 0.486057 27 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RTP2 Gly100Ser G100S not reviewed Insufficiently evaluated not reviewed unknown Array rs11927120 1960 10688 0.183383 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 1 N - - RTP2 Gln82Arg Q82R not reviewed Insufficiently evaluated not reviewed unknown Array rs11707167 4949 10754 0.460201 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 1 N - - RTP2 Asn34Ser N34S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754877 1938 10758 0.180145 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RTP4 Thr79Ile T79I not reviewed Insufficiently evaluated not reviewed unknown Array rs1047584 2358 10758 0.219186 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 0 N - - RTP4 Thr131Met T131M not reviewed Insufficiently evaluated not reviewed unknown Array rs3821812 3242 10758 0.301357 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RTP4 Ser168Asn S168N not reviewed Insufficiently evaluated not reviewed unknown Array rs35224605 233 10758 0.0216583 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 4 - - RTP4 Cys169Tyr C169Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1533594 8349 10758 0.776074 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RTP4 Ala204Asp A204D not reviewed Insufficiently evaluated not reviewed unknown Array rs3926263 2821 10758 0.262223 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RTTN Phe1761Ser F1761S not reviewed Insufficiently evaluated not reviewed unknown Array rs4891392 7881 9822 0.802382 44 0 76 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - RTTN Met1617Thr M1617T not reviewed Insufficiently evaluated not reviewed unknown Array rs35409908 134 9890 0.013549 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.544 - - 2 - 1 N - - RTTN Thr1398Met T1398M not reviewed Insufficiently evaluated not reviewed unknown Array 38 9744 0.00389984 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - RTTN Glu1397Ala E1397A not reviewed Insufficiently evaluated not reviewed unknown Array 1 9740 0.000102669 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 3 - 1 N - - RTTN Asn278Ser N278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTTN Lys245Arg K245R not reviewed Insufficiently evaluated not reviewed unknown Array rs17082206 820 9680 0.0847107 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RTTN Phe241Leu F241L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - RTTN Asp212Ala D212A not reviewed Insufficiently evaluated not reviewed unknown Array 32 9516 0.00336276 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 3 - 1 - - RTTN Ser126Ala S126A not reviewed Insufficiently evaluated not reviewed unknown Array rs3911730 6974 9560 0.729498 38 0 67 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RUFY1 Ala131Asp A131D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.575 - - 5 Y 1 N - - RUFY1 Ala23Asp A23D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RUFY1 His190Gln H190Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - RUFY1 His298Gln H298Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6879322 72 10756 0.00669394 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - -1 - 3 - 2 - - RUFY1 Cys243Phe C243F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RUFY1 Cys351Phe C351F not reviewed Insufficiently evaluated not reviewed unknown Array 51 10756 0.00474154 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.44 - - 4 Y 1 N - - RUFY2 Arg9Trp R9W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RUFY3 Phe104Leu F104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - RUFY3 Phe164Leu F164L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RUNDC1 Trp160Arg W160R not reviewed Insufficiently evaluated not reviewed unknown Array rs1708875 8412 8996 0.935082 41 0 78 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RUNX1 Gln308His Q308H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - RUNX1 Gln335His Q335H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - RUNX3 Ile18Asn I18N not reviewed Insufficiently evaluated not reviewed unknown Array rs6672420 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RUSC1 Ser171Ala S171A not reviewed Insufficiently evaluated not reviewed unknown Array rs74118445 200 10308 0.0194024 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.82 - - -1 - 1 N - - RUSC1 Val24Ala V24A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RUSC1 Val493Ala V493A not reviewed Insufficiently evaluated not reviewed unknown Array rs35826120 224 10758 0.0208217 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RUSC1 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RUSC2 Thr73Ala T73A not reviewed Insufficiently evaluated not reviewed unknown Array rs1535422 10278 10758 0.955382 51 0 99 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RUSC2 Pro654Leu P654L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 2 - 3 - - RUSC2 Glu806Lys E806K not reviewed Insufficiently evaluated not reviewed unknown Array rs41277053 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - RUSC2 Thr1082Pro T1082P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - RWDD2B Arg254Cys R254C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.693 - - 8 Y 1 N - - RWDD3 Val47Ala V47A not reviewed Insufficiently evaluated not reviewed unknown Array rs259358 9569 9702 0.986291 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RWDD3 Asn86Lys N86K not reviewed Insufficiently evaluated not reviewed unknown Array rs2296308 8103 9860 0.821805 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RWDD3 Ser240Stop S240X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RWDD4A Ile124Leu I124L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RXFP2 Asn260Ser N260S not reviewed Insufficiently evaluated not reviewed unknown Array rs73163317 71 10754 0.00660219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - RXFP2 Ile604Val I604V not reviewed Insufficiently evaluated not reviewed unknown Array rs17076657 1558 10758 0.144822 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - RXFP3 Trp50Arg W50R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - RXFP3 Val331Ile V331I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.916 - - -4 - 2 N - - RXFP4 Leu329Ser L329S not reviewed Insufficiently evaluated not reviewed unknown Array rs2152051 116 124 0.935484 50 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RXRG Val246Ile V246I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - -4 - 0 N - - RYR1 Ser1342Gly S1342G not reviewed Insufficiently evaluated not reviewed dominant Array rs34694816 386 9994 0.0386232 4 0 6 1 1 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 3 - - This variant is associated with malignant hyperthermia (central core disease). The allelic frequency is quite high, however, and it is the subject of ongoing research. RYR1 Val1614Ala V1614A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.583 Y Y 2 - 3 N - - RYR1 Pro1632Ser P1632S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10628 0.00573956 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 5 - 2 - - RYR1 Glu3578Gln E3578Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - RYR1 Glu3583Gln E3583Q not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.583 Y Y -2 - 3 N - - RYR1 Pro4496Leu P4496L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - RYR1 Pro4501Leu P4501L not reviewed Insufficiently evaluated not reviewed unknown Array rs73933023 64 10746 0.0059557 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - RYR1 Ala4611Asp A4611D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - RYR1 Ala4616Asp A4616D not reviewed Insufficiently evaluated not reviewed unknown Array rs59468283 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - RYR2 Ser1400Gly S1400G not reviewed Insufficiently evaluated not reviewed unknown Array rs56229512 168 9770 0.0171955 3 0 3 0 0 1 Y - - - - - - - - - - Y - - - 0.012 Y Y 2 - 2 N - - RYR2 Gly1885Glu G1885E benign Low clinical importance, Likely benign recessive Array rs41315858 180 10046 0.0179176 3 0 3 2 2 0 - 0 Y 5 Y 0 Y - Y - Y Y - - - - Y Y 6 Y 4 - 10 0 1 Hypothesized to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1886S. However, this variant is quite common (2.4% in Europeans), as is G1886S (3.1% in Europeans), and about 1 in 700 are compound heterozygous. This is highly discordant with a disease prevalence of 1 in 2500 to 5000, and notably G1886S is reported in ClinVar as benign. We should consider the original hypothesis disproven. RYR2 Gly1886Ser G1886S pathogenic High clinical importance, Uncertain pathogenic recessive Array rs3766871 616 10042 0.0613424 10 0 12 2 2 1 Y 1 Y 2 Y 0 Y 4 Y 3 Y Y - - - - Y Y 2 - 3 - 10 2 0 Reported to cause arrhythmogenic right ventricular cardiomyopathy when compound heterozygous with G1885E, although this finding is weakened after correcting for multiple hypotheses and it is unclear what penetrance such a genotype might have, if it is causal. RYR2 Gln2958Arg Q2958R not reviewed Insufficiently evaluated not reviewed unknown Array rs34967813 2178 9718 0.22412 29 0 37 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 8 - - RYR3 Arg458Gln R458Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 9964 0.000501806 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RYR3 Val494Ile V494I not reviewed Insufficiently evaluated not reviewed unknown Array rs2077268 1561 9848 0.158509 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RYR3 Ile731Val I731V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229116 1966 10408 0.188893 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RYR3 Arg1641Cys R1641C not reviewed Insufficiently evaluated not reviewed unknown Array rs4780144 8655 9994 0.86602 52 0 93 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - RYR3 Gly2270Glu G2270E not reviewed Insufficiently evaluated not reviewed unknown Array rs6495228 8705 10186 0.854604 53 0 89 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RYR3 Thr4752Asn T4752N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - S100A2 Ser61Asn S61N not reviewed Insufficiently evaluated not reviewed unknown Array rs1047325 1827 10758 0.169827 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - S100A3 Arg3Lys R3K not reviewed Insufficiently evaluated not reviewed unknown Array rs36022742 1636 10758 0.152073 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.037 - - -3 - 0 N - - S100A5 Asp72Gly D72G not reviewed Insufficiently evaluated not reviewed unknown Array rs3795393 618 10758 0.0574456 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - S100A5 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs7529714 215 10758 0.0199851 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - S100A7 Glu28Asp E28D not reviewed Insufficiently evaluated not reviewed unknown Array rs3014837 10332 10758 0.960402 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - S100A7 Lys19Gln K19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72708760 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - -2 - 0 N - - S100A7A Arg23His R23H not reviewed Insufficiently evaluated not reviewed unknown Array rs55985140 280 10758 0.0260271 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 2 N - - S100A7A Glu28Asp E28D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - S100A7A Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array rs3006414 2251 10758 0.20924 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - S100A7L2 Asn53Asp N53D not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - S100A7L2 Gly6Val G6V not reviewed Insufficiently evaluated not reviewed unknown Array rs10888561 7168 10758 0.666295 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - S100PBP Gly105Glu G105E not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - S100Z Glu23Ala E23A not reviewed Insufficiently evaluated not reviewed unknown Array rs1320308 6436 9946 0.647094 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.883 - - 3 - 1 N - - S1PR1 Ala11Asp A11D not reviewed Insufficiently evaluated not reviewed unknown Array rs61734752 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - S1PR3 Arg243Gln R243Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34075341 419 10758 0.0389478 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - S1PR4 Val342Ile V342I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - S1PR4 Arg365Leu R365L not reviewed Insufficiently evaluated not reviewed unknown Array rs3746072 61 10466 0.0058284 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.257 - - 6 Y 1 N - - SAA1 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SAA1 Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array rs71469387 5640 10670 0.528585 40 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SAA1 Val75Ala V75A not reviewed Insufficiently evaluated not reviewed unknown Array rs1136747 5824 10652 0.546752 44 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SAA1 Lys121Arg K121R not reviewed Insufficiently evaluated not reviewed unknown Array rs61745680 451 10758 0.0419223 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SAA2 Arg89His R89H not reviewed Insufficiently evaluated not reviewed unknown Array rs2468844 8625 10758 0.801729 47 0 78 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SAA2 Val75Ala V75A not reviewed Insufficiently evaluated not reviewed unknown Array rs71469388 2857 10758 0.26557 7 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SAA2 Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array rs71469387 2609 10758 0.242517 7 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SAA4 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - SAA4 Cys89Tyr C89Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2460827 9652 10758 0.897193 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SAAL1 Ile315Val I315V not reviewed Insufficiently evaluated not reviewed unknown Array rs35525096 1139 10758 0.105875 16 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SAAL1 Gly42Glu G42E not reviewed Insufficiently evaluated not reviewed unknown Array 230 10752 0.0213914 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SAC3D1 Arg94Cys R94C not reviewed Insufficiently evaluated not reviewed unknown Array 1646 7244 0.227223 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SAC3D1 Leu109Arg L109R not reviewed Insufficiently evaluated not reviewed unknown Array rs12271134 6651 6660 0.998649 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SAC3D1 Thr135Ala T135A not reviewed Insufficiently evaluated not reviewed unknown Array rs10792456 3064 3210 0.954517 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SACM1L Tyr434Phe Y434F not reviewed Insufficiently evaluated not reviewed unknown Array rs1468542 6968 10758 0.647704 42 0 59 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - SACS Asn4573His N4573H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.924 Y Y 0 - 4 N - - SACS Val3369Ala V3369A not reviewed Insufficiently evaluated not reviewed unknown Array rs17078605 2197 10756 0.204258 25 0 25 0 0 3 Y - - - - - - - - - - Y - - - 0.769 Y Y 2 - 2 N - - SACS Arg2112Ser R2112S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - SACS Ala694Thr A694T not reviewed Insufficiently evaluated not reviewed unknown Array rs17325713 272 10758 0.0252835 5 0 5 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SACS Asn232Lys N232K not reviewed Insufficiently evaluated not reviewed unknown Array rs2031640 928 10756 0.0862774 9 0 10 1 1 1 Y - - - - - - - - - - Y - - - 0.98 Y Y 1 - 3 N - - SAFB2 Pro943His P943H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SAFB2 Gly402Ser G402S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SAG Ile76Val I76V not reviewed Insufficiently evaluated not reviewed unknown Array rs7565275 699 10504 0.0665461 9 0 9 0 0 - - - - - - - - - - - - Y - - - 0.436 Y - -4 - 2 - 4 - - SAG Val403Ile V403I not reviewed Insufficiently evaluated not reviewed unknown Array rs1046974 3077 10102 0.304593 23 0 28 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - SAG Val403Ala V403A not reviewed Insufficiently evaluated not reviewed unknown Array rs1046976 1313 10104 0.129949 16 0 16 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - SAGE1 Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - SAGE1 Ile268Phe I268F not reviewed Insufficiently evaluated not reviewed unknown Array 29 8761 0.00331012 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SAGE1 Leu805Ser L805S not reviewed Insufficiently evaluated not reviewed unknown Array rs4829799 1944 8761 0.221892 10 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SALL1 Val1178Ile V1178I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SALL1 Val1275Ile V1275I not reviewed Insufficiently evaluated not reviewed unknown Array rs4614723 10633 10758 0.988381 4 0 8 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 3 - - SALL1 Ser159Gly S159G not reviewed Insufficiently evaluated not reviewed unknown Array 572 10694 0.0534879 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 3 - - SALL1 Ser62Gly S62G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - SALL1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SALL1 Met98Val M98V not reviewed Insufficiently evaluated not reviewed unknown Array rs28643388 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - SALL2 Glu906Asp E906D not reviewed Insufficiently evaluated not reviewed unknown Array rs61736009 613 10758 0.0569809 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SALL2 Gly746Arg G746R not reviewed Insufficiently evaluated not reviewed unknown Array rs1263810 2915 10758 0.270961 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SALL2 Pro167Thr P167T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10672 0.000937031 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SALL2 Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array rs1263811 8731 10758 0.811582 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SALL2 Ser75Cys S75C not reviewed Insufficiently evaluated not reviewed unknown Array rs2242527 1200 10758 0.111545 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SALL3 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SALL3 Pro91His P91H not reviewed Insufficiently evaluated not reviewed unknown Array rs35091814 1094 10610 0.10311 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SALL3 Ala185Ser A185S not reviewed Insufficiently evaluated not reviewed unknown Array 66 8940 0.00738255 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SALL3 Ala185Val A185V not reviewed Insufficiently evaluated not reviewed unknown Array 54 8928 0.00604839 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SALL3 Ala411Gly A411G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - 1 - 0 N - - SALL3 Thr533Ala T533A not reviewed Insufficiently evaluated not reviewed unknown Array rs7240860 7295 10544 0.691863 28 0 47 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 1 N - - SALL3 Leu593Val L593V not reviewed Insufficiently evaluated not reviewed unknown Array rs2447437 7108 8634 0.823257 45 0 74 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SALL3 Pro818Leu P818L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 7 Y 2 N - - SALL3 Val853Ala V853A not reviewed Insufficiently evaluated not reviewed unknown Array rs35578880 399 10754 0.0371025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - 2 - 1 N - - SALL3 Arg953Cys R953C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10618 0.000282539 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SALL4 Ile798Leu I798L not reviewed Insufficiently evaluated not reviewed unknown Array rs6091375 996 10758 0.0925823 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 3 - 3 - - SALL4 Ala728Pro A728P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737142 297 10758 0.0276074 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SALL4 Leu507Arg L507R not reviewed Insufficiently evaluated not reviewed dominant Array rs6126344 3023 10758 0.281 31 0 37 1 1 1 Y - - - - - - 3 Y 3 Y Y - - - 0.125 Y Y 6 Y 3 - 1 - - Although the exact function of the SALL4 protein is unknown, mutations in the SALL4 gene have been associated with Okihiro syndrome, acro-renal-ocular syndrome, and IVIC syndrome. Most SALL4-related disorders are autosomal dominant. SALL4 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 3 - 1 - - SAMD1 Glu234Asp E234D not reviewed Insufficiently evaluated not reviewed unknown Array rs8062 15 128 0.117188 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SAMD10 Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10678 0.00580633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - SAMD11 His78Tyr H78Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9988179 85 10728 0.00792319 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 3 - 3 - - SAMD11 Trp343Arg W343R not reviewed Insufficiently evaluated not reviewed unknown Array rs6672356 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SAMD14 Val155Gly V155G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 8 Y 1 N - - SAMD4B Thr508Ile T508I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 3 - 2 N - - SAMD5 Ala50Pro A50P not reviewed Insufficiently evaluated not reviewed unknown Array rs71547193 476 10702 0.0444777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.085 - - 2 - 0 N - - SAMD7 Glu220Asp E220D not reviewed Insufficiently evaluated not reviewed unknown Array rs10513680 1359 10758 0.126325 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 1 N - - SAMD9 Lys894Glu K894E not reviewed Insufficiently evaluated not reviewed unknown Array 257 10748 0.0239114 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAMD9 Val549Leu V549L not reviewed Insufficiently evaluated not reviewed unknown Array rs10279499 1232 10756 0.114541 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 1 N - - SAMD9 Thr479Met T479M not reviewed Insufficiently evaluated not reviewed unknown Array rs78564070 590 10756 0.0548531 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - SAMD9 Asn449Ser N449S not reviewed Insufficiently evaluated not reviewed unknown Array rs10239435 660 10758 0.0613497 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - SAMD9 Ile143Thr I143T not reviewed Insufficiently evaluated not reviewed unknown Array rs6969691 1920 10758 0.178472 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SAMD9 Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 182 10756 0.0169208 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - SAMD9L Asn1516Thr N1516T not reviewed Insufficiently evaluated not reviewed unknown Array rs10282508 1086 10758 0.100948 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SAMD9L Gly1137Ala G1137A not reviewed Insufficiently evaluated not reviewed unknown Array rs17165111 421 10758 0.0391337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SAMD9L Arg638His R638H not reviewed Insufficiently evaluated not reviewed unknown Array rs73710963 70 10752 0.00651042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SAMD9L Arg406Gln R406Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73710964 378 10756 0.0351432 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - SAMD9L Phe289Ser F289S not reviewed Insufficiently evaluated not reviewed unknown Array rs2073793 96 10756 0.00892525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 5 Y 2 N - - SAMD9L Ser96Pro S96P not reviewed Insufficiently evaluated not reviewed unknown Array rs60838691 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - SAMD9L Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - SAMHD1 Ser614Phe S614F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - SAMHD1 Pro34Ala P34A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAMHD1 Ser33Tyr S33Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 5 Y 0 N - - SAMHD1 Ser33Ala S33A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SAMM50 Asp110Gly D110G not reviewed Insufficiently evaluated not reviewed unknown Array rs3761472 1751 10758 0.162763 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SAMM50 Arg267Gln R267Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAMM50 Ile345Val I345V not reviewed Insufficiently evaluated not reviewed unknown Array rs8418 7300 10758 0.678565 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SAMSN1 Lys121Thr K121T not reviewed Insufficiently evaluated not reviewed unknown Array rs60792423 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - SAPS1 Glu188Lys E188K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAPS2 Leu152Gln L152Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SAPS2 Glu406Gln E406Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SAPS2 Asp606Glu D606E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SAPS2 Arg705Lys R705K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SAPS2 Ala806Pro A806P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAPS2 Ala848Thr A848T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAPS3 Ala762Val A762V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SARDH Ala819Thr A819T not reviewed Insufficiently evaluated not reviewed unknown Array 160 10552 0.015163 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SARDH Met648Val M648V not reviewed Insufficiently evaluated not reviewed unknown Array rs886016 5588 10758 0.519427 45 0 61 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - SARDH Arg614His R614H not reviewed Insufficiently evaluated not reviewed unknown Array rs2073817 3078 9408 0.327168 36 0 42 0 0 - - - - - - - - - - - - Y - - - 0.057 Y - 1 - 2 - 2 - - SARDH Glu490Lys E490K not reviewed Insufficiently evaluated not reviewed unknown Array rs61745310 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - SARDH Ala333Val A333V not reviewed Insufficiently evaluated not reviewed unknown Array rs35664470 72 10758 0.00669269 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 2 - 1 - - SARM1 Arg23Pro R23P not reviewed Insufficiently evaluated not reviewed unknown Array rs7212814 10 10 1 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SARM1 Trp183Arg W183R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SARM1 Trp183Cys W183C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SARM1 Val184Gly V184G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SARM1 Phe266Ser F266S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SARM1 Phe266Leu F266L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SARNP Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SARS2 Thr35Ala T35A not reviewed Insufficiently evaluated not reviewed unknown Array rs34264048 717 10758 0.0666481 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SART1 Gly485Ala G485A not reviewed Insufficiently evaluated not reviewed unknown Array rs660118 3192 10524 0.303307 24 0 36 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 1 N - - SART3 Arg623Cys R623C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - SART3 Asp23Glu D23E not reviewed Insufficiently evaluated not reviewed unknown Array rs2072579 1901 10758 0.176706 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SART3 Pro20Ser P20S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SASH1 Arg303Pro R303P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 5 Y 2 N - - SASH1 Gln884Arg Q884R not reviewed Insufficiently evaluated not reviewed unknown Array rs208696 6741 10758 0.626603 43 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SASH1 Arg1089Gln R1089Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - SASH3 Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - 2 - 2 N - - SASS6 Ala260Val A260V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SASS6 Ala259Val A259V not reviewed Insufficiently evaluated not reviewed unknown Array rs13375867 3260 10758 0.30303 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SAT2 Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array rs13894 804 10758 0.0747351 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.037 - - 8 Y 0 N - - SATB1 Asp708Val D708V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.355 - - 8 Y 1 N - - SATB2 Ile474Leu I474L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SATL1 Trp92Arg W92R not reviewed Insufficiently evaluated not reviewed unknown Array rs10126146 66 92 0.717391 42 0 74 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SATL1 Met84Val M84V not reviewed Insufficiently evaluated not reviewed unknown Array rs66539671 9 92 0.0978261 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SBF2 Arg1679Cys R1679C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y 8 Y 2 N - - SBF2 Gln1216Glu Q1216E not reviewed Insufficiently evaluated not reviewed unknown Array rs12574508 868 10758 0.0806841 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y -2 - 2 N - - SBF2 Glu679Lys E679K not reviewed Insufficiently evaluated not reviewed unknown Array rs7102464 829 10758 0.0770589 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - SBK2 Leu325Val L325V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.139 - - 0 - 0 N - - SBK2 Ala298Pro A298P not reviewed Insufficiently evaluated not reviewed unknown Array rs620251 20 22 0.909091 9 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SBK2 Cys72Arg C72R not reviewed Insufficiently evaluated not reviewed unknown Array rs310453 106 120 0.883333 46 0 87 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SBK2 Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array rs56353414 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SBNO1 Glu1196Lys E1196K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SBNO1 Ser728Asn S728N not reviewed Insufficiently evaluated not reviewed unknown Array rs1060105 19 128 0.148438 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - SBNO2 Pro637Ser P637S not reviewed Insufficiently evaluated not reviewed unknown Array rs2302110 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SBNO2 Pro694Ser P694S not reviewed Insufficiently evaluated not reviewed unknown Array rs2302110 1583 9636 0.16428 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SBSN Gly8Ser G8S not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - SC4MOL Ile203Thr I203T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SC4MOL Ile72Thr I72T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SC65 Gln186Arg Q186R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCAF1 Thr420Pro T420P not reviewed Insufficiently evaluated not reviewed unknown Array rs7251334 3631 3652 0.99425 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SCAF1 Thr895Ala T895A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745470 106 10756 0.00985496 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.774 - - 1 - 1 N - - SCAMP2 Pro74His P74H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SCAMP2 Thr70Ser T70S not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - -2 - 0 N - - SCAMP3 Ile274Thr I274T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCAMP3 Ile300Thr I300T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCAMP3 Ser238Cys S238C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCAMP3 Ser264Cys S264C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCAND3 Gln465Lys Q465K not reviewed Insufficiently evaluated not reviewed unknown Array rs41270593 689 10758 0.0640454 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - SCAP Val798Ile V798I not reviewed Insufficiently evaluated not reviewed unknown Array rs12487736 4944 10616 0.465712 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SCAPER Pro1089Thr P1089T not reviewed Insufficiently evaluated not reviewed unknown Array rs1607017 2360 9558 0.246914 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SCAPER Pro843Thr P843T not reviewed Insufficiently evaluated not reviewed unknown Array rs1607017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCAPER Trp257Arg W257R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCAPER Trp503Arg W503R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCAPER Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs3812908 2751 9468 0.290558 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 1 N - - SCARA3 Arg423Gln R423Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3735754 8 10758 0.000743632 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 4 - - SCARA3 Phe467Leu F467L not reviewed Insufficiently evaluated not reviewed unknown Array rs17057523 745 10750 0.0693023 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.734 - - 0 - 0 N - - SCARA5 Asp316His D316H not reviewed Insufficiently evaluated not reviewed unknown Array rs17058207 1049 10330 0.101549 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SCARB1 Ser312Tyr S312Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - SCARB1 Val135Ile V135I not reviewed Insufficiently evaluated not reviewed unknown Array rs5891 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 1 - 10 - - SCARB1 Gly2Ser G2S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4238001 816 10032 0.0813397 2 0 1 1 0 - - - - - - - - - - - - - - - Y 0.937 - - 2 - 2 N - - Higher responsiveness to fenofibrate. SCARB2 Val396Ile V396I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228380 271 10758 0.0251906 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCARB2 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73826386 81 10754 0.00753208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - 0 - 1 N - - SCARF1 Arg726Lys R726K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCARF1 Arg812Lys R812K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729426 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -3 - 0 N - - SCARF1 Gly662Val G662V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - SCARF1 Gly748Val G748V not reviewed Insufficiently evaluated not reviewed unknown Array rs3760460 508 10752 0.047247 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.207 - - 8 Y 2 - 3 - - SCARF1 Gly581Ser G581S not reviewed Insufficiently evaluated not reviewed unknown Array rs4790250 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCARF1 Gly667Ser G667S not reviewed Insufficiently evaluated not reviewed unknown Array rs4790250 9797 10616 0.922852 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCARF1 Arg576Trp R576W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SCARF1 Arg662Trp R662W not reviewed Insufficiently evaluated not reviewed unknown Array rs8072430 205 10380 0.0197495 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 3 - - SCARF1 Glu553Asp E553D not reviewed Insufficiently evaluated not reviewed unknown Array rs3744644 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCARF1 Glu639Asp E639D not reviewed Insufficiently evaluated not reviewed unknown Array rs3744644 9900 10756 0.920417 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SCARF1 Gly540Ser G540S not reviewed Insufficiently evaluated not reviewed unknown Array rs36108564 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCARF1 Gly626Ser G626S not reviewed Insufficiently evaluated not reviewed unknown Array rs36108564 1099 10758 0.102157 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - SCARF1 Arg532Lys R532K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCARF1 Arg618Lys R618K not reviewed Insufficiently evaluated not reviewed unknown Array rs35455643 317 10758 0.0294664 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.818 - - -3 - 1 N - - SCARF1 Ala339Val A339V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCARF1 Ala425Val A425V not reviewed Insufficiently evaluated not reviewed unknown Array rs2272011 6162 10756 0.57289 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCARF1 Ser373Thr S373T not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - SCARF1 Glu307Lys E307K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10748 0.000744324 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - SCARF1 Glu304Lys E304K not reviewed Insufficiently evaluated not reviewed unknown Array rs35403201 60 10746 0.00558347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - SCARF1 Arg267His R267H not reviewed Insufficiently evaluated not reviewed unknown Array rs73289306 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SCARF1 Glu38Ala E38A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 3 - 0 N - - SCARF2 Ala832Gly A832G not reviewed Insufficiently evaluated not reviewed unknown Array 5010 7704 0.650312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SCARF2 Ala837Gly A837G not reviewed Insufficiently evaluated not reviewed unknown Array rs874101 22 54 0.407407 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SCARF2 Ala814Gly A814G not reviewed Insufficiently evaluated not reviewed unknown Array 1816 6332 0.286797 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SCARF2 Ala819Gly A819G not reviewed Insufficiently evaluated not reviewed unknown Array 1 12 0.0833333 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SCARF2 Val773Leu V773L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCARF2 Val778Leu V778L not reviewed Insufficiently evaluated not reviewed unknown Array rs70944210 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCARF2 Asp772Glu D772E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCARF2 Asp777Glu D777E not reviewed Insufficiently evaluated not reviewed unknown Array rs759611 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCARF2 Thr425Ser T425S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241230 965 10758 0.0897007 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SCARF2 Pro174Ser P174S not reviewed Insufficiently evaluated not reviewed unknown Array 594 5632 0.105469 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SCCPDH Gly418Arg G418R not reviewed Insufficiently evaluated not reviewed unknown Array rs7779 576 10758 0.0535415 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.943 - - 6 Y 1 N - - SCD Met224Leu M224L not reviewed Insufficiently evaluated not reviewed unknown Array rs2234970 4348 10758 0.404164 41 0 58 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 7 - - SCD5 Leu246Met L246M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCD5 Glu197Gln E197Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3733227 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCEL Arg366Lys R366K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCEL Arg386Lys R386K not reviewed Insufficiently evaluated not reviewed unknown Array rs2274016 1048 10754 0.0974521 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SCEL Lys438Arg K438R not reviewed Insufficiently evaluated not reviewed unknown Array rs8002725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCEL Lys460Arg K460R not reviewed Insufficiently evaluated not reviewed unknown Array rs8002725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCEL Lys480Arg K480R not reviewed Insufficiently evaluated not reviewed unknown Array rs8002725 2382 10758 0.221417 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SCFD1 Lys63Arg K63R not reviewed Insufficiently evaluated not reviewed unknown Array rs229150 5088 10756 0.473038 44 0 66 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - SCFD1 Met307Thr M307T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCFD1 Met374Thr M374T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.614 - - 2 - 1 N - - SCFD2 Leu512Ser L512S not reviewed Insufficiently evaluated not reviewed unknown Array rs7675987 3427 10758 0.318554 27 0 31 0 0 - - - - - - - - - - - - - - - - 0.58 - - 6 Y 0 N - - SCFD2 Leu80Pro L80P not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCG2 Asp232Gly D232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SCG2 Tyr61His Y61H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 8 - - SCGB1C1 Arg5Cys R5C not reviewed Insufficiently evaluated not reviewed unknown Array rs7951297 2778 10532 0.263768 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SCGB1C1 Ile70Arg I70R not reviewed Insufficiently evaluated not reviewed unknown Array rs2294081 61 122 0.5 38 0 38 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SCGB1D2 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232950 3230 10758 0.300242 35 0 50 0 0 - - - - - - - - - - - - - - - - 0.845 - - 7 Y 0 N - - SCGB2A2 Asn68Lys N68K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - SCGBL Ala95Gly A95G not reviewed Insufficiently evaluated not reviewed unknown Array rs61741628 170 10682 0.0159146 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCHIP1 Arg107Ser R107S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10740 0.00698324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCIN His61Arg H61R not reviewed Insufficiently evaluated not reviewed unknown Array rs2240572 1460 3234 0.451453 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SCIN Ala196Pro A196P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCIN Ala443Pro A443P not reviewed Insufficiently evaluated not reviewed unknown Array rs35083013 169 10132 0.0166798 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.082 - - 2 - 0 N - - SCLT1 Arg503Lys R503K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - SCLT1 Ser441Cys S441C not reviewed Insufficiently evaluated not reviewed unknown Array rs10028124 7995 10754 0.743444 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SCLY Lys52Glu K52E not reviewed Insufficiently evaluated not reviewed unknown Array rs7597367 971 10758 0.0902584 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SCLY Ala175Thr A175T not reviewed Insufficiently evaluated not reviewed unknown Array rs3210400 3306 10758 0.307306 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SCLY Phe276Ser F276S not reviewed Insufficiently evaluated not reviewed unknown Array rs35637307 320 10758 0.0297453 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SCMH1 Ile113Val I113V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCMH1 Ile66Val I66V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCML2 Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array rs73454384 1 92 0.0108696 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - -4 - 2 N - - SCML4 Phe255Ser F255S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 5 Y 0 N - - SCML4 Arg126Gln R126Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6934505 1425 10756 0.132484 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - SCN10A Met1713Val M1713V not reviewed Insufficiently evaluated not reviewed unknown Array rs6599241 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SCN10A Leu1092Pro L1092P not reviewed Insufficiently evaluated not reviewed unknown Array rs12632942 2359 10758 0.219279 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SCN10A Val1073Ala V1073A not reviewed Insufficiently evaluated not reviewed unknown Array rs6795970 7559 10758 0.70264 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCN10A Pro1045Thr P1045T not reviewed Insufficiently evaluated not reviewed unknown Array rs73062575 246 10756 0.022871 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCN10A Ile962Val I962V not reviewed Insufficiently evaluated not reviewed unknown Array rs57326399 2243 10758 0.208496 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SCN10A Ser509Pro S509P not reviewed Insufficiently evaluated not reviewed unknown Array rs7630989 972 10758 0.0903514 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SCN10A Ile206Met I206M not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCN11A Thr1609Ile T1609I not reviewed Insufficiently evaluated not reviewed unknown Array rs72869687 400 10758 0.0371816 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - SCN11A Val909Ile V909I not reviewed Insufficiently evaluated not reviewed unknown Array rs33985936 2210 10758 0.205429 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SCN11A Gly481Glu G481E not reviewed Insufficiently evaluated not reviewed unknown Array rs13059805 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.803 - - 6 Y 1 N - - SCN1A Ile1944Thr I1944T not reviewed Insufficiently evaluated not reviewed unknown Array rs35735053 101 10756 0.00939011 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SCN1A Ala1056Thr A1056T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298771 7785 10756 0.723782 49 0 78 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 - 3 - - SCN1B Leu210Pro L210P not reviewed Insufficiently evaluated not reviewed unknown Array rs55742440 2409 5924 0.406651 34 0 48 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - SCN1B Ser248Arg S248R not reviewed Insufficiently evaluated not reviewed unknown Array rs67701503 687 5530 0.124231 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - SCN1B Arg250Thr R250T not reviewed Insufficiently evaluated not reviewed unknown Array rs67486287 641 5534 0.115829 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - SCN2A Arg19Lys R19K not reviewed Insufficiently evaluated not reviewed unknown Array rs17183814 627 10758 0.0582822 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.956 Y - -3 - 3 - 10 - - SCN3A Asp1754Asn D1754N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - SCN3A Asp1803Asn D1803N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - -1 - 2 - 4 - - SCN3A Thr217Ile T217I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - SCN3A Thr217Ala T217A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - SCN3A Arg216Leu R216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SCN4A Asn1376Asp N1376D not reviewed Insufficiently evaluated not reviewed unknown Array rs2058194 6477 10758 0.602064 49 0 70 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 - 2 - - SCN4A Ala874Gly A874G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SCN4A Val730Met V730M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.334 Y Y 0 - 3 N - - SCN4A Ser524Gly S524G not reviewed Insufficiently evaluated not reviewed unknown Array rs6504191 9632 10520 0.915589 56 0 105 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 3 - - SCN4B Leu181Pro L181P not reviewed Insufficiently evaluated not reviewed unknown Array rs61065977 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.127 Y - 7 Y 1 N - - SCN4B Leu47Pro L47P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SCN4B Leu71Pro L71P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SCN5A His558Arg H558R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1805124 2542 10350 0.245604 31 0 34 3 3 1 Y - - 2 Y - - - - - - Y - - Y - Y Y 1 - 4 N 10 - - SCN7A Met958Ile M958I not reviewed Insufficiently evaluated not reviewed unknown Array rs6738031 7173 9494 0.75553 53 0 89 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SCN7A Tyr562Cys Y562C not reviewed Insufficiently evaluated not reviewed unknown Array 7 9498 0.000736997 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SCN7A Ile407Val I407V not reviewed Insufficiently evaluated not reviewed unknown Array rs11888208 1458 9478 0.15383 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SCN7A Thr41Asn T41N not reviewed Insufficiently evaluated not reviewed unknown Array rs7565062 6707 9534 0.703482 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SCN8A Asp990Glu D990E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 Y Y -2 - 4 N - - SCN8A Asp991His D991H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 Y Y 3 - 4 N - - SCN9A Trp1150Arg W1150R benign Insufficiently evaluated benign dominant Array rs6746030 8347 9508 0.877892 56 0 97 2 2 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 1 - - The Trp variant was initially reported causative in a sporadic case of primary erythermalgia, but it was later determined to be a benign polymorphism. SCN9A Ser490Asn S490N not reviewed Insufficiently evaluated not reviewed unknown Array rs58022607 407 9614 0.0423341 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.296 Y Y 0 - 4 - 1 - - SCN9A Ile228Met I228M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10740 0.00111732 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.841 Y Y -1 - 3 N - - SCN9A Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array 55 9610 0.0057232 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 1 - 4 N - - SCNN1A Thr663Ala T663A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228576 96 124 0.774194 46 0 73 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 10 - - SCNN1A Thr686Ala T686A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SCNN1A Thr722Ala T722A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228576 7881 10250 0.768878 3 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - SCNN1A Cys618Phe C618F not reviewed Insufficiently evaluated not reviewed unknown Array rs3741913 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 4 - 2 - - SCNN1A Cys641Phe C641F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - SCNN1A Cys677Phe C677F not reviewed Insufficiently evaluated not reviewed unknown Array 342 10748 0.0318199 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - SCNN1A Val573Ile V573I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 10 - - SCNN1A Val596Ile V596I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SCNN1A Val632Ile V632I not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SCNN1A Glu404Stop E404X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - SCNN1A Glu427Stop E427X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - SCNN1A Glu463Stop E463X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - SCNN1A Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array rs11542844 36 112 0.321429 22 0 31 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 1 - - SCNN1A Ala357Thr A357T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SCNN1A Ala393Thr A393T not reviewed Insufficiently evaluated not reviewed unknown Array 1905 10758 0.177078 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - SCNN1D Gln74Arg Q74R not reviewed Insufficiently evaluated not reviewed unknown Array 153 3228 0.0473978 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCNN1D Arg180Pro R180P not reviewed Insufficiently evaluated not reviewed unknown Array rs11260579 10 80 0.125 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.133 - - 5 Y 0 N - - SCNN1D Arg246Pro R246P not reviewed Insufficiently evaluated not reviewed unknown Array 951 10726 0.0886631 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SCNN1D Ala246Val A246V not reviewed Insufficiently evaluated not reviewed unknown Array rs74046669 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SCNN1D Ala312Val A312V not reviewed Insufficiently evaluated not reviewed unknown Array 317 10680 0.0296816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCNN1D Glu380Gln E380Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228579 27 108 0.25 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - SCNN1D Glu446Gln E446Q not reviewed Insufficiently evaluated not reviewed unknown Array 974 9974 0.0976539 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SCNN1D Arg444Gln R444Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.426 - - 0 - 1 N - - SCNN1D Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 10726 0.00550065 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCNN1D Lys461Arg K461R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - -3 - 0 N - - SCNN1D Lys527Arg K527R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10708 0.000840493 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCNN1D Ala472Thr A472T not reviewed Insufficiently evaluated not reviewed unknown Array rs13306651 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - SCNN1D Ala538Thr A538T not reviewed Insufficiently evaluated not reviewed unknown Array 171 10692 0.0159933 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SCNN1D Gly562Ser G562S not reviewed Insufficiently evaluated not reviewed unknown Array rs6690013 7 110 0.0636364 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SCNN1D Gly628Ser G628S not reviewed Insufficiently evaluated not reviewed unknown Array 618 10528 0.0587006 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCNN1D Pro593Leu P593L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730205 3 118 0.0254237 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.509 - - 7 Y 1 N - - SCNN1D Pro659Leu P659L not reviewed Insufficiently evaluated not reviewed unknown Array 197 10590 0.0186025 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCNN1D Gly606Arg G606R not reviewed Insufficiently evaluated not reviewed unknown Array rs609805 9 124 0.0725806 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - SCNN1D Gly672Arg G672R not reviewed Insufficiently evaluated not reviewed unknown Array 582 10592 0.0549471 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SCO1 Ile263Val I263V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.095 Y - -4 - 1 N - - SCO1 Pro58Ser P58S not reviewed Insufficiently evaluated not reviewed unknown Array rs1802083 538 10480 0.0513359 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - SCO2 Ala259Val A259V not reviewed Insufficiently evaluated not reviewed unknown Array rs8139305 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.078 Y - 2 - 1 N - - SCO2 Arg20Pro R20P not reviewed Insufficiently evaluated not reviewed unknown Array rs140523 6744 10714 0.629457 45 0 61 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 - 3 - - SCOC Val42Leu V42L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - SCRIB Gly980Arg G980R not reviewed Insufficiently evaluated not reviewed unknown Array rs11542374 869 10450 0.0831579 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 0 N - - SCRIB Val674Glu V674E not reviewed Insufficiently evaluated not reviewed unknown Array rs10098508 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - SCRIB Pro422Leu P422L not reviewed Insufficiently evaluated not reviewed unknown Array rs6558394 6226 10742 0.579594 38 0 54 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - SCRIB Lys313Thr K313T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SCRIB Asp93Ala D93A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - SCRN1 Ser235Cys S235C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCRN1 Ser303Cys S303C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCRN1 Ser323Cys S323C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCRN1 Ser235Thr S235T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCRN1 Ser303Thr S303T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCRN1 Ser323Thr S323T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCRN1 Ser121Asn S121N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCRN1 Ser189Asn S189N not reviewed Insufficiently evaluated not reviewed unknown Array rs35960711 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCRN1 Ser209Asn S209N not reviewed Insufficiently evaluated not reviewed unknown Array 696 10758 0.064696 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SCRN2 Gln330Arg Q330R not reviewed Insufficiently evaluated not reviewed unknown Array rs34480825 236 10746 0.0219617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - SCRN2 Met323Val M323V not reviewed Insufficiently evaluated not reviewed unknown Array rs7350974 10584 10732 0.986209 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SCRN2 Glu273Gln E273Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35901087 288 10758 0.0267708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - SCRN2 Lys103Arg K103R not reviewed Insufficiently evaluated not reviewed unknown Array rs17856536 306 10758 0.0284439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - SCRN3 Asp18Asn D18N not reviewed Insufficiently evaluated not reviewed unknown Array rs10497410 1771 10758 0.164622 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SCRN3 Glu58Stop E58X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCRN3 Gln415His Q415H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCRT1 Ser133Ala S133A not reviewed Insufficiently evaluated not reviewed unknown Array 3254 3418 0.952019 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SCRT2 Ala22Val A22V not reviewed Insufficiently evaluated not reviewed unknown Array 732 10446 0.0700747 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - SCUBE1 Ser648Pro S648P not reviewed Insufficiently evaluated not reviewed unknown Array rs138993 6540 10758 0.60792 36 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SCUBE1 Ala461Ser A461S not reviewed Insufficiently evaluated not reviewed unknown Array 80 10744 0.00744602 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SCUBE1 Gly398Arg G398R not reviewed Insufficiently evaluated not reviewed unknown Array rs129415 8349 10754 0.776362 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SCUBE1 Thr225Met T225M not reviewed Insufficiently evaluated not reviewed unknown Array rs73420094 294 10758 0.0273285 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCUBE2 Thr791Ser T791S not reviewed Insufficiently evaluated not reviewed unknown Array rs3751057 997 10758 0.0926752 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 1 N - - SCUBE2 His712Gln H712Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7395988 10732 10758 0.997583 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SCUBE2 Thr591Met T591M not reviewed Insufficiently evaluated not reviewed unknown Array rs3751055 1228 10758 0.114148 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - SCUBE2 Leu25Pro L25P not reviewed Insufficiently evaluated not reviewed unknown Array 133 2086 0.0637584 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - SCUBE3 Thr231Ala T231A not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - SCUBE3 Ser468Pro S468P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCUBE3 Glu848Gly E848G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SCYL1 Val125Met V125M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10020 0.00499002 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - SCYL2 Val65Phe V65F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - SCYL2 Pro357Leu P357L not reviewed Insufficiently evaluated not reviewed unknown Array rs33968174 908 10750 0.0844651 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.846 - - 7 Y 0 N - - SCYL2 Thr716Ser T716S not reviewed Insufficiently evaluated not reviewed unknown Array rs56391464 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.255 - - -2 - 1 N - - SCYL2 Gln792Stop Q792X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCYL3 Ala633Thr A633T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCYL3 Ala687Thr A687T not reviewed Insufficiently evaluated not reviewed unknown Array rs55788990 346 10758 0.0321621 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SCYL3 Gln567Arg Q567R not reviewed Insufficiently evaluated not reviewed unknown Array rs4656197 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCYL3 Gln621Arg Q621R not reviewed Insufficiently evaluated not reviewed unknown Array rs4656197 6774 10758 0.629671 52 0 74 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - SDAD1 Val660Ile V660I not reviewed Insufficiently evaluated not reviewed unknown Array rs17001276 227 10758 0.0211006 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SDAD1 Ser575Cys S575C not reviewed Insufficiently evaluated not reviewed unknown Array rs2242471 3679 10758 0.341978 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - SDAD1 Ala490Asp A490D not reviewed Insufficiently evaluated not reviewed unknown Array rs34627298 781 10758 0.0725971 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SDC1 Val225Met V225M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.636 - - 0 - 1 N - - SDC1 Leu136Gln L136Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10205485 10368 10756 0.963927 54 0 103 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SDC2 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array rs3816208 586 10758 0.0544711 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.874 - - 1 - 1 N - - SDC2 Ser71Thr S71T not reviewed Insufficiently evaluated not reviewed unknown Array rs1042381 2682 10758 0.249303 33 0 39 0 0 - - - - - - - - - - - - - - - - 0.292 - - -2 - 0 N - - SDC3 Thr329Ile T329I not reviewed Insufficiently evaluated not reviewed unknown Array rs2282440 96 10758 0.00892359 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.484 - - 3 - 1 N - - SDC3 Asp303Asn D303N not reviewed Insufficiently evaluated not reviewed unknown Array rs4949184 2464 10758 0.229039 19 0 28 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - SDC3 Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array rs2491132 1627 10756 0.151264 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SDC4 Leu159Pro L159P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - SDC4 Phe12Leu F12L not reviewed Insufficiently evaluated not reviewed unknown Array rs4458268 2898 10578 0.273965 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SDCBP Thr257Ala T257A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SDCBP Thr262Ala T262A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SDCBP Thr263Ala T263A not reviewed Insufficiently evaluated not reviewed unknown Array rs3739325 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SDCBP2 Arg138Cys R138C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SDCBP2 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array rs1048621 2532 10758 0.23536 20 0 23 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - SDCBP2 Val182Met V182M not reviewed Insufficiently evaluated not reviewed unknown Array rs2273959 4982 10758 0.463097 30 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SDCBP2 Val97Met V97M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG1 Ser257Cys S257C not reviewed Insufficiently evaluated not reviewed unknown Array rs3100906 9946 10756 0.924693 55 0 105 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - SDCCAG1 Glu218Gln E218Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - SDCCAG10 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG10 Pro256Ala P256A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDCCAG3 Val355Ile V355I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - SDCCAG3 Val405Ile V405I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - SDCCAG3 Val428Ile V428I not reviewed Insufficiently evaluated not reviewed unknown Array rs17855450 292 9640 0.0302905 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 1 - 2 - - SDCCAG3 Val306Met V306M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG3 Val356Met V356M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG3 Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array rs1131992 1003 10084 0.0994645 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SDCCAG3 Arg231Gln R231Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG3 Arg281Gln R281Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG3 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3812577 915 9752 0.0938269 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - SDCCAG3 Pro144Leu P144L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SDCCAG3 Pro167Leu P167L not reviewed Insufficiently evaluated not reviewed unknown Array 24 9968 0.0024077 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - SDCCAG3 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SDCCAG3 Leu134Val L134V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG3 Leu157Val L157V not reviewed Insufficiently evaluated not reviewed unknown Array 52 9774 0.00532024 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.491 - - 0 - 1 N - - SDCCAG3 Leu84Val L84V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG3 Ser100Trp S100W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SDCCAG3 Ser123Trp S123W not reviewed Insufficiently evaluated not reviewed unknown Array 1 9762 0.000102438 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - SDCCAG3 Ser50Trp S50W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SDCCAG8 Glu378Asp E378D not reviewed Insufficiently evaluated not reviewed unknown Array rs2275155 2871 10758 0.266871 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - SDF2L1 Ala33Thr A33T not reviewed Insufficiently evaluated not reviewed unknown Array 164 9650 0.0169948 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SDF2L1 Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array rs73166641 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SDF4 Arg323Gln R323Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDHA Asp38Val D38V not reviewed Insufficiently evaluated not reviewed unknown Array rs34635677 339 10758 0.0315114 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - SDHA Asp49Gly D49G not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - SDHA Ser456Leu S456L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 3 N - - SDHA Ala466Thr A466T not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 1 - 1 N - - SDHA Tyr629Phe Y629F not reviewed Insufficiently evaluated not reviewed unknown Array rs34482117 795 10354 0.0767819 7 0 9 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 2 - 2 - - SDHA Cys654Gly C654G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - SDHA Val657Ile V657I not reviewed Insufficiently evaluated not reviewed unknown Array rs6962 2101 10758 0.195297 16 0 19 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - -4 - 2 - 2 - - SDHAF1 Cys90Ser C90S not reviewed Insufficiently evaluated not reviewed unknown Array rs7249826 88 88 1 38 0 74 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - SDHAF1 Pro112Ser P112S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9302 0.000537518 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 3 - 1 N - - SDK1 Arg140His R140H not reviewed Insufficiently evaluated not reviewed unknown Array 297 10758 0.0276074 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SDK1 Asp197Glu D197E not reviewed Insufficiently evaluated not reviewed unknown Array 364 10758 0.0338353 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SDK1 Asp1016Asn D1016N not reviewed Insufficiently evaluated not reviewed unknown Array rs11978101 3233 10758 0.300521 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SDK1 Thr1020Met T1020M not reviewed Insufficiently evaluated not reviewed unknown Array rs61586368 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - SDK1 Arg1191Trp R1191W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SDK1 His128Arg H128R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SDK1 His1641Arg H1641R not reviewed Insufficiently evaluated not reviewed unknown Array rs671694 8504 10758 0.790482 53 0 92 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SDK1 Gln1706Pro Q1706P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 2 N - - SDK1 Gln193Pro Q193P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SDK1 Pro673Leu P673L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SDK1 Arg674Cys R674C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SDK2 Thr1553Met T1553M not reviewed Insufficiently evaluated not reviewed unknown Array 689 10758 0.0640454 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - SDK2 Leu1545Val L1545V not reviewed Insufficiently evaluated not reviewed unknown Array rs2270716 343 10758 0.0318832 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDK2 Arg1014Lys R1014K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SDK2 Thr526Asn T526N not reviewed Insufficiently evaluated not reviewed unknown Array rs1105353 2224 10758 0.20673 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SDK2 Arg360Cys R360C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SDK2 Gly276Ser G276S not reviewed Insufficiently evaluated not reviewed unknown Array 42 3234 0.012987 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDPR Pro209His P209H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - SDPR Glu130Asp E130D not reviewed Insufficiently evaluated not reviewed unknown Array rs35012125 278 10758 0.0258412 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.314 - - -2 - 1 N - - SDR16C6 Thr318Pro T318P not reviewed Insufficiently evaluated not reviewed unknown Array 986 3234 0.304886 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SDR16C6 Ser221Thr S221T not reviewed Insufficiently evaluated not reviewed unknown Array 1135 3234 0.350959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SDR16C6 Thr148Ser T148S not reviewed Insufficiently evaluated not reviewed unknown Array 72 3234 0.0222635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SDR16C6 Phe59Ser F59S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SDR39U1 Gln270Arg Q270R not reviewed Insufficiently evaluated not reviewed unknown Array rs1043831 8064 10128 0.796209 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SDR39U1 Leu232Phe L232F not reviewed Insufficiently evaluated not reviewed unknown Array rs3211056 8167 10260 0.796004 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SDR39U1 Ile79Leu I79L not reviewed Insufficiently evaluated not reviewed unknown Array rs71419887 7546 9594 0.786533 51 0 53 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SDR42E1 Pro185Leu P185L not reviewed Insufficiently evaluated not reviewed unknown Array rs74029334 43 10066 0.00427181 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - SDR42E1 Lys96Glu K96E not reviewed Insufficiently evaluated not reviewed unknown Array rs16956174 2033 10136 0.200572 22 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SDR42E1 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 164 10108 0.0162248 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 1 N - - SDR42E1 Ser10Thr S10T not reviewed Insufficiently evaluated not reviewed unknown Array rs6564956 1050 9632 0.109012 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SDR9C7 Arg231Gln R231Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - 0 - 1 N - - SDR9C7 Leu19Val L19V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDS Ala230Ser A230S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 2 - - SDSL Gly108Ala G108A not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - SDSL Glu188Lys E188K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SEBOX Leu206Ser L206S not reviewed Insufficiently evaluated not reviewed unknown Array rs9910163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEBOX Leu207Ser L207S not reviewed Insufficiently evaluated not reviewed unknown Array rs9910163 8724 10392 0.839492 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SEBOX Ile32Thr I32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEC11A Phe85Leu F85L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - 0 - 0 N - - SEC14L1 Thr154Pro T154P not reviewed Insufficiently evaluated not reviewed unknown Array rs673918 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEC14L1 Thr188Pro T188P not reviewed Insufficiently evaluated not reviewed unknown Array rs673918 10612 10758 0.986429 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SEC14L2 Arg11Lys R11K not reviewed Insufficiently evaluated not reviewed unknown Array rs757660 2909 10056 0.28928 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SEC14L3 Tyr342Cys Y342C not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.6 - - 6 Y 1 N - - SEC14L3 Asp335Glu D335E not reviewed Insufficiently evaluated not reviewed unknown Array rs2240345 7481 10758 0.695389 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SEC14L3 Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array rs2269961 2339 10758 0.21742 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - SEC14L3 Ile103Thr I103T not reviewed Insufficiently evaluated not reviewed unknown Array rs4820853 3883 10758 0.360941 34 0 45 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - SEC14L3 Arg63Trp R63W not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SEC14L4 Glu211Lys E211K not reviewed Insufficiently evaluated not reviewed unknown Array rs17738527 1991 10758 0.185072 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 1 N - - SEC14L4 Val200Met V200M not reviewed Insufficiently evaluated not reviewed unknown Array rs17738540 2029 10758 0.188604 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.198 - - 0 - 0 N - - SEC14L4 Arg124Gly R124G not reviewed Insufficiently evaluated not reviewed unknown Array rs9606739 2048 10758 0.19037 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.22 - - 6 Y 0 N - - SEC14L4 Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SEC14L4 Ser3Gly S3G not reviewed Insufficiently evaluated not reviewed unknown Array rs9608956 2405 10568 0.227574 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SEC16A Pro1901Leu P1901L not reviewed Insufficiently evaluated not reviewed unknown Array 108 10388 0.0103966 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SEC16A Val1062Ala V1062A not reviewed Insufficiently evaluated not reviewed unknown Array rs7022785 468 9828 0.047619 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC16A Arg1039Cys R1039C not reviewed Insufficiently evaluated not reviewed unknown Array rs3812594 1964 9770 0.201024 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SEC16A Ser1022Arg S1022R not reviewed Insufficiently evaluated not reviewed unknown Array 101 9834 0.0102705 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEC16A Thr997Ala T997A not reviewed Insufficiently evaluated not reviewed unknown Array rs73670288 222 9870 0.0224924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEC16B Ala929Ser A929S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745560 2469 10032 0.246112 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SEC16B Ser873Asn S873N not reviewed Insufficiently evaluated not reviewed unknown Array rs3813649 2358 9764 0.241499 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SEC16B Pro864Ala P864A not reviewed Insufficiently evaluated not reviewed unknown Array rs591120 4286 9838 0.435658 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SEC16B Gln845His Q845H not reviewed Insufficiently evaluated not reviewed unknown Array rs7522194 1965 10112 0.194324 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.958 - - -1 - 1 N - - SEC16B Gly730Arg G730R not reviewed Insufficiently evaluated not reviewed unknown Array rs943762 940 9756 0.096351 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 3 - - SEC16B Ile385Val I385V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10102 0.00673134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - SEC16B His292Arg H292R not reviewed Insufficiently evaluated not reviewed unknown Array rs12040910 8501 10508 0.809003 54 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SEC22B Asp71Tyr D71Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEC22B Thr82Lys T82K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEC22B Arg108Gln R108Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEC22B Cys130Arg C130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SEC22B Arg132Stop R132X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SEC22B His190Arg H190R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEC23A Leu211Val L211V not reviewed Insufficiently evaluated not reviewed unknown Array rs8018720 9023 10758 0.838725 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEC23B His489Gln H489Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2273526 1287 10758 0.119632 12 0 14 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 1 N - - SEC23IP Ser189Asn S189N not reviewed Insufficiently evaluated not reviewed unknown Array rs36069446 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SEC23IP Ala241Ser A241S not reviewed Insufficiently evaluated not reviewed unknown Array rs34157476 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - SEC23IP Asp325Gly D325G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 4 Y 1 N - - SEC23IP Lys644Glu K644E not reviewed Insufficiently evaluated not reviewed unknown Array rs2475298 7614 10758 0.707752 50 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEC24A Pro305Ala P305A not reviewed Insufficiently evaluated not reviewed unknown Array 129 9736 0.0132498 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - SEC24A Gln1089His Q1089H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.911 - - -1 - 2 N - - SEC24B Ser702Ala S702A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEC24B Ser737Ala S737A not reviewed Insufficiently evaluated not reviewed unknown Array 11 9558 0.00115087 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEC24D Ala234Thr A234T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEC24D Met42Thr M42T not reviewed Insufficiently evaluated not reviewed unknown Array rs10029206 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.154 - - 2 - 1 - 2 - - SEC24D Tyr29Cys Y29C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SEC31A Pro1016Leu P1016L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SEC31A Pro1031Leu P1031L not reviewed Insufficiently evaluated not reviewed unknown Array rs34982573 70 10758 0.00650678 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SEC31A Pro917Leu P917L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEC31A Pro992Leu P992L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEC31B Ala1169Ser A1169S not reviewed Insufficiently evaluated not reviewed unknown Array rs2298075 2402 10758 0.223276 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SEC31B Tyr1111His Y1111H not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - SEC31B Met719Thr M719T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.132 - - 2 - 0 N - - SEC31B Val504Met V504M not reviewed Insufficiently evaluated not reviewed unknown Array rs41290542 286 10758 0.0265849 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SEC31B Pro372Ser P372S not reviewed Insufficiently evaluated not reviewed unknown Array rs2295772 2293 10758 0.213144 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SEC31B Ser332Ala S332A not reviewed Insufficiently evaluated not reviewed unknown Array rs2295774 1864 10758 0.173266 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 1 N - - SEC31B Leu129Phe L129F not reviewed Insufficiently evaluated not reviewed unknown Array rs3793706 2478 10758 0.23034 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEC31B Val89Ala V89A not reviewed Insufficiently evaluated not reviewed unknown Array rs3763695 2286 10758 0.212493 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SEC63 Thr676Ile T676I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733388 198 10758 0.0184049 3 0 2 0 0 - - - - - - - - - - - - Y - - - 0.288 Y - 3 - 2 N - - SEC63 Val556Ile V556I not reviewed Insufficiently evaluated not reviewed unknown Array rs17854547 368 10758 0.0342071 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - -4 - 1 N - - SECISBP2 Phe143Leu F143L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - SECISBP2 Gln428Glu Q428E not reviewed Insufficiently evaluated not reviewed unknown Array rs45452691 449 10758 0.0417364 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.629 - - -2 - 1 N - - SECISBP2L Glu951Asp E951D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SECISBP2L Pro871Ala P871A not reviewed Insufficiently evaluated not reviewed unknown Array rs34895054 2023 10758 0.188046 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SECISBP2L Val665Leu V665L not reviewed Insufficiently evaluated not reviewed unknown Array rs11854184 1800 10758 0.167317 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SECTM1 Tyr244Asp Y244D not reviewed Insufficiently evaluated not reviewed unknown Array rs61738919 733 10758 0.0681353 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SECTM1 Gln14Arg Q14R not reviewed Insufficiently evaluated not reviewed unknown Array rs73999868 588 10752 0.0546875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - SECTM1 His11Pro H11P not reviewed Insufficiently evaluated not reviewed unknown Array rs73999869 590 10750 0.0548837 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SEH1L Gly340Arg G340R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - SEH1L Thr342Asn T342N not reviewed Insufficiently evaluated not reviewed unknown Array rs6505776 7798 10756 0.724991 37 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SEL1L2 His687Gln H687Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2073290 1837 9768 0.188063 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.087 - - -1 - 0 N - - SEL1L2 Leu374Arg L374R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - SEL1L2 Arg75Cys R75C not reviewed Insufficiently evaluated not reviewed unknown Array rs41275404 909 9318 0.0975531 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 1 N - - SELE Leu575Phe L575F not reviewed Insufficiently evaluated not reviewed unknown Array rs5355 368 10758 0.0342071 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - SELE His468Tyr H468Y not reviewed Insufficiently evaluated not reviewed unknown Array rs5368 933 10758 0.0867262 12 0 11 0 0 - - - - - - - - - - - - - Y - - 0.088 - - -1 - 2 N - - SELE Glu421Gln E421Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5366 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.528 - - -2 - 2 - 7 - - SELE Arg389Cys R389C not reviewed Insufficiently evaluated not reviewed unknown Array rs73041408 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.14 - - 8 Y 0 N - - SELE Gln257Pro Q257P not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 1 - 5 - - SELENBP1 Glu367Lys E367K not reviewed Insufficiently evaluated not reviewed unknown Array rs72710112 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SELL Pro213Ser P213S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229569 1505 9592 0.156902 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - SELL Phe193Leu F193L not reviewed Insufficiently evaluated not reviewed unknown Array rs1131498 2202 9742 0.226032 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.679 - - 0 - 0 N - - SELO Val3Ala V3A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SELO Thr167Asn T167N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SELP Thr790Met T790M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SELP Thr756Pro T756P not reviewed Insufficiently evaluated not reviewed unknown Array rs6136 816 10758 0.0758505 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 9 - - SELP Val640Leu V640L not reviewed Insufficiently evaluated not reviewed unknown Array rs6133 2901 10758 0.26966 23 0 34 0 0 - Y - - - - - - - - - - - Y - - - - - 0 - 2 N - - SELP Asp603Asn D603N not reviewed Insufficiently evaluated not reviewed unknown Array rs6127 6975 10758 0.648355 48 0 82 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SELP Ser331Asn S331N not reviewed Insufficiently evaluated not reviewed unknown Array rs6131 2462 10758 0.228853 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SELP Thr274Ile T274I not reviewed Insufficiently evaluated not reviewed unknown Array rs3917724 342 10758 0.0317903 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SELP Val209Met V209M not reviewed Insufficiently evaluated not reviewed unknown Array rs6125 530 10758 0.0492657 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SELP Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SELPLG Pro298Leu P298L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SELPLG Met264Val M264V not reviewed Insufficiently evaluated not reviewed unknown Array rs7300972 1159 10758 0.107734 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SELPLG Pro236Ser P236S not reviewed Insufficiently evaluated not reviewed unknown Array rs8179142 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - SELPLG Met62Ile M62I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228315 1466 10758 0.136271 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SELV Lys284Arg K284R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SEMA3A Trp3Cys W3C not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 1 - 10 - - SEMA3B Ser510Leu S510L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA3B Ser511Leu S511L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA3D Lys701Gln K701Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7800072 3657 10758 0.339933 33 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SEMA3D Lys10Gln K10Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - SEMA3E Arg208Pro R208P not reviewed Insufficiently evaluated not reviewed unknown Array rs61729612 1182 10758 0.109872 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - SEMA3F Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array rs61751940 539 10756 0.0501116 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SEMA3F Gln123Arg Q123R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - SEMA3F Leu503Met L503M not reviewed Insufficiently evaluated not reviewed unknown Array rs1046956 6804 10758 0.63246 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SEMA4A Ala676Val A676V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 2 - 1 N - - SEMA4B Met163Ile M163I not reviewed Insufficiently evaluated not reviewed unknown Array rs4932305 1264 10306 0.122647 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SEMA4B Ala580Val A580V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10166 0.000393468 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEMA4B Ser797Ala S797A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751655 6972 9752 0.71493 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SEMA4C Ser535Tyr S535Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.499 - - 5 Y 1 N - - SEMA4C Val529Met V529M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SEMA4D Met722Val M722V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA4D Arg713Lys R713K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SEMA4D Ser731Asn S731N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA4D Leu728Phe L728F not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - SEMA4D Ala515Val A515V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - SEMA4D Ala327Thr A327T not reviewed Insufficiently evaluated not reviewed unknown Array rs11526468 2235 10758 0.207752 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.632 - - 1 - 0 N - - SEMA4D Ala72Thr A72T not reviewed Insufficiently evaluated not reviewed unknown Array rs13284404 341 10758 0.0316973 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - SEMA4F Val353Ala V353A not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.271 - - 2 - 1 N - - SEMA4F Ser735Asn S735N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.449 - - 0 - 1 N - - SEMA4G Ser698Phe S698F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEMA4G Arg713His R713H not reviewed Insufficiently evaluated not reviewed unknown Array rs41291464 268 10758 0.0249117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA5A Thr698Pro T698P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - SEMA5A Arg48Trp R48W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.465 - - 7 Y 1 N - - SEMA5B Asp1028Gly D1028G not reviewed Insufficiently evaluated not reviewed unknown Array rs2303983 8002 10758 0.743819 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SEMA5B Gly888Arg G888R not reviewed Insufficiently evaluated not reviewed unknown Array 88 10748 0.00818757 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA5B Val840Asp V840D not reviewed Insufficiently evaluated not reviewed unknown Array rs2276782 7483 9596 0.779804 26 0 39 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SEMA5B Ile598Thr I598T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEMA5B Asp587Glu D587E not reviewed Insufficiently evaluated not reviewed unknown Array rs34037493 319 10758 0.0296524 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SEMA5B Ile220Thr I220T not reviewed Insufficiently evaluated not reviewed unknown Array rs2276774 1674 10758 0.155605 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SEMA6A Glu538Gly E538G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10070 0.00148957 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SEMA6A Tyr518His Y518H not reviewed Insufficiently evaluated not reviewed unknown Array rs34966 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SEMA6C Arg893Trp R893W not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SEMA6C Arg543Thr R543T not reviewed Insufficiently evaluated not reviewed unknown Array rs74127528 288 10758 0.0267708 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.712 - - 3 - 1 N - - SEMA6C Thr455Pro T455P not reviewed Insufficiently evaluated not reviewed unknown Array rs4971007 8603 10756 0.799833 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SEMA6C Arg252Gly R252G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SEMA6D Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SEMA6D Asn307Ser N307S not reviewed Insufficiently evaluated not reviewed unknown Array rs3743279 841 10758 0.0781744 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SEMA6D Ser478Asn S478N not reviewed Insufficiently evaluated not reviewed unknown Array rs532598 4519 10758 0.42006 43 0 55 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEMA7A Ser115Thr S115T not reviewed Insufficiently evaluated not reviewed unknown Array rs16968733 384 10758 0.0356944 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 1 - 6 - - SEMG1 Ser79Thr S79T not reviewed Insufficiently evaluated not reviewed unknown Array rs2301366 51 128 0.398438 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SEMG1 Ser193Asn S193N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SEMG1 Ser312Arg S312R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 1 - - SEMG2 Gln43Lys Q43K not reviewed Insufficiently evaluated not reviewed unknown Array 1626 10758 0.151143 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SEMG2 Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array 254 10758 0.0236103 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMG2 Ser274Asn S274N not reviewed Insufficiently evaluated not reviewed unknown Array 1799 10758 0.167224 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEMG2 His279Tyr H279Y not reviewed Insufficiently evaluated not reviewed unknown Array 494 10758 0.0459193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEMG2 Gly368Arg G368R not reviewed Insufficiently evaluated not reviewed unknown Array 565 10758 0.0525191 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SENP1 Ser80Gly S80G not reviewed Insufficiently evaluated not reviewed unknown Array 35 9450 0.0037037 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.586 - - 2 - 1 N - - SENP2 Thr301Lys T301K not reviewed Insufficiently evaluated not reviewed unknown Array rs6762208 4211 10758 0.39143 39 0 47 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SENP5 Leu340Phe L340F not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SENP5 Gly350Asp G350D not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SENP6 Thr121Met T121M not reviewed Insufficiently evaluated not reviewed unknown Array rs17414086 2549 9584 0.265964 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 0 N - - SENP6 Arg1065Gln R1065Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.646 - - 0 - 1 N - - SENP6 Arg1072Gln R1072Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73458808 2 9570 0.000208986 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SENP6 Tyr1099Cys Y1099C not reviewed Insufficiently evaluated not reviewed unknown Array rs9250 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SENP6 Tyr1106Cys Y1106C not reviewed Insufficiently evaluated not reviewed unknown Array rs9250 2578 9682 0.266267 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SENP7 Asp572Tyr D572Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SENP7 Asp637Tyr D637Y not reviewed Insufficiently evaluated not reviewed unknown Array rs57002332 227 10756 0.0211045 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SENP7 Gln547His Q547H not reviewed Insufficiently evaluated not reviewed unknown Array rs2433031 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SENP7 Gln612His Q612H not reviewed Insufficiently evaluated not reviewed unknown Array rs2433031 3446 10756 0.320379 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SENP7 His362Arg H362R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SENP7 His427Arg H427R not reviewed Insufficiently evaluated not reviewed unknown Array rs72940349 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SENP7 Lys79Gln K79Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6809436 1091 10758 0.101413 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - SENP7 Arg4Lys R4K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -3 - 0 N - - SENP8 Thr207Ala T207A not reviewed Insufficiently evaluated not reviewed unknown Array rs930871 10186 10758 0.94683 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SEPN1 Cys108Tyr C108Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7349185 7883 10000 0.7883 4 0 6 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - SEPN1 Cys142Tyr C142Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SEPN1 Asn468Lys N468K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - SEPN1 Asn502Lys N502K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - SEPN1 Arg548Gln R548Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPN1 Arg582Gln R582Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPP1 Ala234Thr A234T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPP1 Ala264Thr A264T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPSECS Lys373Asn K373N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPSECS Lys451Asn K451N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPSECS Lys452Asn K452N not reviewed Insufficiently evaluated not reviewed unknown Array rs2302566 835 10756 0.0776311 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SEPT10 Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEPT10 Glu156Lys E156K not reviewed Insufficiently evaluated not reviewed unknown Array 71 9794 0.00724934 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 0 - 2 N - - SEPT10 Asn102Ile N102I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 7 Y 0 N - - SEPT10 Asn79Ile N79I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEPT10 Asn102Tyr N102Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - SEPT10 Asn79Tyr N79Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEPT11 Thr227Pro T227P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 4 Y 1 N - - SEPT12 Gln167Arg Q167R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEPT12 Gln213Arg Q213R not reviewed Insufficiently evaluated not reviewed unknown Array rs6500633 206 10758 0.0191485 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - SEPT14 Glu276Lys E276K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SEPT3 Ile133Phe I133F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - SEPT4 Glu292Val E292V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEPT4 Glu311Val E311V not reviewed Insufficiently evaluated not reviewed unknown Array rs17741424 967 10758 0.0898866 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.856 - - 5 Y 1 N - - SEPT6 Ser146Phe S146F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 5 Y 0 N - - SEPT8 Arg24Gln R24Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEPT8 Arg84Gln R84Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10596 0.00141563 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - SEPT9 Pro127Leu P127L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - 0.004 Y Y 7 Y 2 N - - SEPT9 Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SEPT9 Pro145Leu P145L not reviewed Insufficiently evaluated not reviewed unknown Array rs34587622 856 10590 0.080831 10 0 11 0 0 5 Y - - - - - - - - - - Y - - - 0.926 Y Y 7 Y 4 - 1 - - SEPT9 Met325Val M325V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPT9 Met412Val M412V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPT9 Met464Val M464V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPT9 Met558Val M558V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPT9 Met569Val M569V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SEPT9 Met576Val M576V not reviewed Insufficiently evaluated not reviewed unknown Array rs2627223 9350 10474 0.892687 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - SERGEF Gly457Glu G457E not reviewed Insufficiently evaluated not reviewed unknown Array rs10788 1394 10758 0.129578 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.824 - - 6 Y 0 N - - SERGEF Lys429Glu K429E not reviewed Insufficiently evaluated not reviewed unknown Array rs1528 1403 10758 0.130415 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERHL Ser46Asn S46N not reviewed Insufficiently evaluated not reviewed unknown Array rs926333 133 5088 0.0261399 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SERHL2 Ser184Arg S184R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - SERHL2 Cys306Arg C306R not reviewed Insufficiently evaluated not reviewed unknown Array rs137055 2332 10758 0.216769 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.419 - - 8 Y 0 N - - SERINC2 Gly303Ser G303S not reviewed Insufficiently evaluated not reviewed unknown Array rs34728687 909 10758 0.0844953 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SERINC2 Arg450His R450H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERINC5 Cys100Ser C100S not reviewed Insufficiently evaluated not reviewed unknown Array rs55928876 306 9668 0.0316508 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SERPINA1 Glu400Asp E400D not reviewed Insufficiently evaluated not reviewed unknown Array rs1303 2240 10758 0.208217 19 0 19 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 3 - 2 - - SERPINA1 Glu366Lys E366K pathogenic High clinical importance, pathogenic recessive Array 126 10758 0.0117122 1 1 1 5 5 2 Y 1 Y 5 Y 5 Y 4 Y 3 Y Y - - - 1.0 Y Y 0 - 5 - 4 2 2 This is also called the "Pi Z" or "Z" allele. When homozygous (acting in a recessive manner) this variant is the major cause of severe alpha-1-antitrypsin deficiency (95% of cases) which often leads to emphysema or chronic obstructive pulmonary disease (COPD) and liver disease in adults and children. Heterozygosity for this variant may also be associated with increased rate of lung or liver problems, especially when combined with another variant with reduced function (compound heterozygous). SERPINA1 Glu288Val E288V pathogenic Low clinical importance, pathogenic recessive Array rs17580 328 10758 0.0304889 4 1 4 7 6 3 Y 1 Y 5 Y - - 2 Y 3 - Y - - - 0.995 Y Y 5 Y 5 - 8 0 2 This variant represents the PiS variant in alpha-1-antitrypsin deficiency where a homozygous individual has 60% enzymatic activity. This variant alone is unlikely to much effect, but 3-4% of heterozygotes are compound heterozygous with the more severe PiZ variant, which is associated with an increased risk of emphysema and COPD. SERPINA1 Val237Ala V237A not reviewed Insufficiently evaluated not reviewed unknown Array rs6647 3513 10758 0.326548 28 0 43 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - SERPINA1 Arg125His R125H not reviewed Insufficiently evaluated not reviewed unknown Array rs709932 1301 10758 0.120933 13 0 14 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 3 - 3 - - SERPINA10 Gly271Ser G271S not reviewed Insufficiently evaluated not reviewed unknown Array rs2232708 389 10758 0.0361591 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 7 - - SERPINA10 Thr161Ser T161S not reviewed Insufficiently evaluated not reviewed unknown Array rs2232700 2020 10758 0.187767 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SERPINA10 Ser61Gly S61G not reviewed Insufficiently evaluated not reviewed unknown Array rs941591 2645 10758 0.245864 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SERPINA10 Lys46Arg K46R not reviewed Insufficiently evaluated not reviewed unknown Array rs941590 5764 10758 0.535787 43 0 67 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SERPINA11 Thr406Ser T406S not reviewed Insufficiently evaluated not reviewed unknown Array rs17752285 354 10758 0.0329057 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SERPINA11 Glu230Ala E230A not reviewed Insufficiently evaluated not reviewed unknown Array rs1885137 3415 10758 0.317438 20 0 26 0 0 - - - - - - - - - - - - - - - - 0.339 - - 3 - 0 N - - SERPINA12 Ile394Val I394V not reviewed Insufficiently evaluated not reviewed unknown Array rs34519784 229 10758 0.0212865 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - -4 - 2 N - - SERPINA12 Met240Val M240V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SERPINA12 Gln142Lys Q142K not reviewed Insufficiently evaluated not reviewed unknown Array rs17090972 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - SERPINA3 Arg3Lys R3K not reviewed Insufficiently evaluated not reviewed unknown Array rs56871159 576 10758 0.0535415 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.738 - - -3 - 0 N - - SERPINA3 Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array rs4934 4315 10758 0.401097 36 0 51 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 0 N - - SERPINA3 Lys237Arg K237R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SERPINA4 Trp254Gly W254G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SERPINA5 Ala55Val A55V not reviewed Insufficiently evaluated not reviewed unknown Array rs6118 2566 10758 0.23852 29 0 38 0 0 - - - - - - - - - - - - - - - - 0.527 - - 2 - 0 N - - SERPINA5 Ser64Asn S64N not reviewed Insufficiently evaluated not reviewed unknown Array rs6115 7995 10758 0.743168 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINA5 Lys105Glu K105E not reviewed Insufficiently evaluated not reviewed unknown Array rs6119 2575 10758 0.239357 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINA6 Ser246Ala S246A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228541 4681 10758 0.435118 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SERPINA7 Leu303Phe L303F not reviewed Insufficiently evaluated not reviewed unknown Array rs1804495 1046 8761 0.119393 12 0 16 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 0 N - - SERPINA7 Ala211Thr A211T not reviewed Insufficiently evaluated not reviewed unknown Array rs2234036 6 8761 0.000684853 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 6 - - SERPINA7 Val8Phe V8F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737031 45 8759 0.00513757 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINA9 Val248Ala V248A not reviewed Insufficiently evaluated not reviewed unknown Array rs11628722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SERPINA9 Val348Ala V348A not reviewed Insufficiently evaluated not reviewed unknown Array rs11628722 6876 9564 0.718946 44 0 70 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SERPINA9 Pro241Leu P241L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINA9 Pro341Leu P341L not reviewed Insufficiently evaluated not reviewed unknown Array 55 9626 0.00571369 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINA9 Arg210Ile R210I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINA9 Arg310Ile R310I not reviewed Insufficiently evaluated not reviewed unknown Array rs28618118 2530 10100 0.250495 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SERPINA9 His154Gln H154Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINA9 His254Gln H254Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28583900 2519 10094 0.249554 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SERPINA9 Pro136Leu P136L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINA9 Pro236Leu P236L not reviewed Insufficiently evaluated not reviewed unknown Array rs17090921 2477 9830 0.251984 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SERPINA9 Gln102Stop Q102X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SERPINA9 Gln202Stop Q202X not reviewed Insufficiently evaluated not reviewed unknown Array 173 9710 0.0178167 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SERPINA9 Gln111Glu Q111E not reviewed Insufficiently evaluated not reviewed unknown Array rs12879019 1557 10548 0.147611 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SERPINA9 Ser83Gly S83G not reviewed Insufficiently evaluated not reviewed unknown Array rs59773088 896 10416 0.0860215 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SERPINA9 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array rs45438596 343 10128 0.0338665 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINA9 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array rs4905204 495 10082 0.0490974 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SERPINA9 Pro41Leu P41L not reviewed Insufficiently evaluated not reviewed unknown Array rs45438398 919 10058 0.0913701 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SERPINB1 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array rs34825616 152 10758 0.014129 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.534 - - 2 - 2 - 3 - - SERPINB10 Ser3Ala S3A not reviewed Insufficiently evaluated not reviewed unknown Array rs17072097 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINB10 Ile41Met I41M not reviewed Insufficiently evaluated not reviewed unknown Array rs8097425 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINB10 Ile99Thr I99T not reviewed Insufficiently evaluated not reviewed unknown Array rs724558 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINB10 Gly135Asp G135D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SERPINB10 Pro140Ser P140S not reviewed Insufficiently evaluated not reviewed unknown Array rs9967382 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINB10 Ala186Val A186V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SERPINB10 Arg246Cys R246C not reviewed Insufficiently evaluated not reviewed unknown Array rs963075 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SERPINB10 Asp360Asn D360N not reviewed Insufficiently evaluated not reviewed unknown Array rs35453062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINB11 Glu51Ala E51A not reviewed Insufficiently evaluated not reviewed unknown Array rs1395268 7893 9664 0.816743 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SERPINB11 Thr148Met T148M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SERPINB11 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERPINB11 Trp188Arg W188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINB11 Thr293Ile T293I not reviewed Insufficiently evaluated not reviewed unknown Array rs1395266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINB11 Ser303Pro S303P not reviewed Insufficiently evaluated not reviewed unknown Array rs1395267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINB12 His59Tyr H59Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 1 - - SERPINB12 Lys227Glu K227E not reviewed Insufficiently evaluated not reviewed unknown Array rs35582068 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - SERPINB12 Asn289Thr N289T not reviewed Insufficiently evaluated not reviewed unknown Array rs35352345 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.162 - - 1 - 0 N - - SERPINB12 Ser294Leu S294L not reviewed Insufficiently evaluated not reviewed unknown Array rs61751994 9 128 0.0703125 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - SERPINB12 Ala362Thr A362T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - SERPINB12 Arg373Gln R373Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56812375 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - SERPINB13 Gly293Ser G293S not reviewed Insufficiently evaluated not reviewed unknown Array rs1020694 9045 10758 0.84077 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SERPINB2 Asn120Asp N120D not reviewed Insufficiently evaluated not reviewed unknown Array rs6098 2919 10758 0.271333 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SERPINB2 Gly384Arg G384R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 6 Y 2 N - - SERPINB2 Asn404Lys N404K not reviewed Insufficiently evaluated not reviewed unknown Array rs6103 2916 10758 0.271054 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SERPINB2 Ser413Cys S413C not reviewed Insufficiently evaluated not reviewed unknown Array rs6104 2908 10758 0.27031 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SERPINB3 Glu362Lys E362K not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 0 - 0 N - - SERPINB3 Thr357Ala T357A not reviewed Insufficiently evaluated not reviewed unknown Array rs1065205 917 10758 0.0852389 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SERPINB3 Pro356Ser P356S not reviewed Insufficiently evaluated not reviewed unknown Array rs73962331 596 10758 0.0554006 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SERPINB3 Gly351Ala G351A not reviewed Insufficiently evaluated not reviewed unknown Array rs3180227 1434 10758 0.133296 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SERPINB3 Arg279Pro R279P not reviewed Insufficiently evaluated not reviewed unknown Array rs61748838 625 10758 0.0580963 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SERPINB3 Asp240Asn D240N not reviewed Insufficiently evaluated not reviewed unknown Array rs61733410 362 10758 0.0336494 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.749 - - -1 - 1 N - - SERPINB4 Asn25Ser N25S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINB5 Ser176Pro S176P not reviewed Insufficiently evaluated not reviewed unknown Array rs2289519 7984 10758 0.742145 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SERPINB5 Val187Leu V187L not reviewed Insufficiently evaluated not reviewed unknown Array rs2289520 2486 10758 0.231084 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINB5 Ile319Val I319V not reviewed Insufficiently evaluated not reviewed unknown Array rs1455555 4335 10758 0.402956 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SERPINB6 Met90Val M90V not reviewed Insufficiently evaluated not reviewed unknown Array rs2295769 2345 10758 0.217977 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINB7 Asn61Asp N61D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - SERPINB7 Arg266Gln R266Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17782413 2075 10758 0.19288 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 0 N - - SERPINB7 Thr268Ile T268I not reviewed Insufficiently evaluated not reviewed unknown Array rs61735186 764 10758 0.0710169 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 0 N - - SERPINB8 Arg68Gln R68Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1944270 4069 10758 0.37823 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINB8 Thr304Ala T304A not reviewed Insufficiently evaluated not reviewed unknown Array rs3169983 1440 10758 0.133854 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SERPINB8 His359Arg H359R not reviewed Insufficiently evaluated not reviewed unknown Array rs3826616 5669 10758 0.526957 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SERPINB9 Met343Val M343V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729675 223 10758 0.0207288 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SERPINE1 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array rs6092 903 10758 0.0839375 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 2 - 3 - - SERPINE1 Val17Ile V17I not reviewed Insufficiently evaluated not reviewed unknown Array rs6090 328 10758 0.0304889 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - SERPINE3 Asp143Asn D143N not reviewed Insufficiently evaluated not reviewed unknown Array 197 10140 0.019428 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 1 - 2 - - SERPINF1 Ala56Gly A56G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERPINF1 Thr72Met T72M not reviewed Insufficiently evaluated not reviewed unknown Array rs1136287 7664 10758 0.7124 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SERPINF1 Pro132Arg P132R not reviewed Insufficiently evaluated not reviewed unknown Array rs1804145 244 10758 0.0226808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - SERPINF1 Ile150Val I150V not reviewed Insufficiently evaluated not reviewed unknown Array rs62640873 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SERPINF2 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array rs2070862 2479 10758 0.230433 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - SERPINF2 Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array rs2070863 2131 10614 0.200773 16 0 15 0 0 - - - - - - - - - - - - - - - - 0.311 - - 7 Y 0 N - - SERPINF2 Arg434Lys R434K not reviewed Insufficiently evaluated not reviewed unknown Array rs1057335 2032 10758 0.188883 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SERPINF2 Pro451Ser P451S not reviewed Insufficiently evaluated not reviewed unknown Array rs57360598 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 3 - 2 - - SERPING1 Val56Ala V56A not reviewed Insufficiently evaluated not reviewed unknown Array rs11546660 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - SERPING1 Val480Met V480M not reviewed Insufficiently evaluated not reviewed unknown Array rs4926 2363 10758 0.21965 17 0 21 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 2 - 3 - - SERPINI1 Phe7Leu F7L not reviewed Insufficiently evaluated not reviewed unknown Array rs33917740 1359 10758 0.126325 12 0 14 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 0 - 0 N - - SERPINI2 Glu148Gly E148G not reviewed Insufficiently evaluated not reviewed unknown Array rs9841174 4021 10756 0.373838 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.956 - - 6 Y 1 N - - SERPINI2 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array rs17246389 2134 10754 0.198438 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 0 N - - SERTAD1 Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array rs268687 6677 10698 0.624135 27 0 41 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SETBP1 Ala222Thr A222T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SETBP1 Val231Leu V231L not reviewed Insufficiently evaluated not reviewed unknown Array rs11082414 2034 10758 0.189069 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SETBP1 Val1101Ile V1101I not reviewed Insufficiently evaluated not reviewed unknown Array rs3744825 1060 10758 0.0985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - SETBP1 Pro1130Thr P1130T not reviewed Insufficiently evaluated not reviewed unknown Array rs1064204 1025 10758 0.0952779 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 4 Y 0 N - - SETBP1 Val1377Leu V1377L not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - SETD1A Ser356Thr S356T not reviewed Insufficiently evaluated not reviewed unknown Array 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.242 - - -2 - 1 N - - SETD1A Pro1136Leu P1136L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10436 0.00680337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETD1B Val243Leu V243L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETD1B Pro367Leu P367L not reviewed Insufficiently evaluated not reviewed unknown Array 20 3226 0.00619963 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETD2 Pro1962Leu P1962L not reviewed Insufficiently evaluated not reviewed unknown Array rs4082155 5062 10758 0.470534 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - SETD2 Met1080Ile M1080I not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.803 - - -1 - 1 N - - SETD2 Ser1076Thr S1076T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - SETD2 Thr928Arg T928R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - SETD2 Glu902Gln E902Q not reviewed Insufficiently evaluated not reviewed unknown Array 798 10758 0.0741774 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - -2 - 1 N - - SETD2 Ala848Val A848V not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - SETD2 Ala356Gly A356G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - SETD3 Gly306Arg G306R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - SETD4 Lys404Asn K404N not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SETD4 Ile387Val I387V not reviewed Insufficiently evaluated not reviewed unknown Array rs2835239 465 10756 0.0432317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.347 - - -4 - 1 N - - SETD5 Thr1308Ile T1308I not reviewed Insufficiently evaluated not reviewed unknown Array rs11542009 813 9784 0.0830949 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.792 - - 3 - 0 N - - SETD5 Thr1372Asn T1372N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.251 - - 1 - 1 N - - SETD5 Thr1372Ile T1372I not reviewed Insufficiently evaluated not reviewed unknown Array rs62246321 27 10442 0.00258571 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.799 - - 3 - 1 N - - SETD5 Arg1387Gln R1387Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - SETD6 Ala421Val A421V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SETD6 Ala445Val A445V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.062 - - 2 - 0 N - - SETD8 Pro60Leu P60L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETD8 Lys121Arg K121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SETD8 Gly122Arg G122R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SETD8 Cys302Arg C302R not reviewed Insufficiently evaluated not reviewed unknown Array rs61955126 5 16 0.3125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SETD8 Leu332Pro L332P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETDB1 Ala1090Val A1090V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SETDB2 Glu105Gly E105G not reviewed Insufficiently evaluated not reviewed unknown Array rs7998427 7717 10744 0.718261 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SETDB2 Glu117Gly E117G not reviewed Insufficiently evaluated not reviewed unknown Array rs7998427 93 128 0.726562 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SETDB2 Lys396Ile K396I not reviewed Insufficiently evaluated not reviewed unknown Array 374 10748 0.0347972 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SETDB2 Lys408Ile K408I not reviewed Insufficiently evaluated not reviewed unknown Array rs73491278 4 128 0.03125 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - SETDB2 Val461Met V461M not reviewed Insufficiently evaluated not reviewed unknown Array rs2057413 8423 10756 0.783098 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SETDB2 Val473Met V473M not reviewed Insufficiently evaluated not reviewed unknown Array rs2057413 105 128 0.820312 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SETMAR Pro44Ser P44S not reviewed Insufficiently evaluated not reviewed unknown Array 292 10432 0.0279908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SETMAR Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array rs6801634 1375 10758 0.127812 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SETMAR Asp238Ala D238A not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SETX Ser2612Gly S2612G not reviewed Insufficiently evaluated not reviewed unknown Array rs3739927 811 10758 0.0753858 15 0 19 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 2 - - SETX Ile2587Val I2587V not reviewed Insufficiently evaluated not reviewed unknown Array rs1056899 4842 10758 0.450084 20 0 28 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - SETX Leu2402Pro L2402P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SETX Thr1855Ala T1855A not reviewed Insufficiently evaluated not reviewed unknown Array rs2296871 3331 10758 0.30963 35 0 52 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - SETX Ile1386Val I1386V not reviewed Insufficiently evaluated not reviewed unknown Array rs543573 7435 10758 0.691114 39 0 60 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - SETX Gly1252Arg G1252R not reviewed Insufficiently evaluated not reviewed unknown Array rs1183768 7427 10758 0.69037 39 0 60 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - SETX Asp1192Glu D1192E not reviewed Insufficiently evaluated not reviewed unknown Array rs1185193 8497 10758 0.789831 44 0 74 0 0 - Y - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - SETX Phe1152Cys F1152C not reviewed Insufficiently evaluated not reviewed unknown Array rs3739922 414 10758 0.038483 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SETX Pro1061Leu P1061L not reviewed Insufficiently evaluated not reviewed unknown Array rs12352982 186 10758 0.0172895 4 0 4 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SETX Ala660Gly A660G not reviewed Insufficiently evaluated not reviewed unknown Array rs882709 1241 10756 0.115377 20 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - SEZ6 Met806Thr M806T not reviewed Insufficiently evaluated not reviewed unknown Array rs12941884 1452 9918 0.1464 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SEZ6 Thr546Ala T546A not reviewed Insufficiently evaluated not reviewed unknown Array rs1976165 3200 10388 0.308048 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SEZ6 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10486 0.000286095 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.319 - - 0 - 1 N - - SEZ6L Trp185Leu W185L not reviewed Insufficiently evaluated not reviewed unknown Array rs137203 913 10758 0.0848671 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - SEZ6L Met430Ile M430I not reviewed Insufficiently evaluated not reviewed unknown Array rs663048 2824 10758 0.262502 17 0 22 0 0 - - - - - - - - - - - - - - - - 0.712 - - -1 - 0 N - - SEZ6L2 Asp404Asn D404N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEZ6L2 Asp448Asn D448N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEZ6L2 Asp518Asn D518N not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - SEZ6L2 Thr238Asn T238N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEZ6L2 Thr282Asn T282N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEZ6L2 Thr352Asn T352N not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - SEZ6L2 Arg74Pro R74P not reviewed Insufficiently evaluated not reviewed unknown Array rs11649499 9288 10564 0.879212 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SF3A1 Leu720Arg L720R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SF3A1 Leu785Arg L785R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.357 - - 6 Y 1 N - - SF3A1 Ala687Glu A687E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SF3A1 Ala752Glu A752E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.602 - - 3 - 1 N - - SF3A2 Gly453Ser G453S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SF3B2 Leu279Arg L279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SF3B3 Arg128Gly R128G not reviewed Insufficiently evaluated not reviewed unknown Array 1299 10758 0.120747 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - SF4 Arg290His R290H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFI1 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array rs16989698 142 10048 0.0141322 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 2 - - SFI1 Lys186Stop K186X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SFI1 Tyr322His Y322H not reviewed Insufficiently evaluated not reviewed unknown Array rs5753700 9501 10136 0.937352 52 0 100 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SFI1 Trp330Arg W330R not reviewed Insufficiently evaluated not reviewed unknown Array rs16989291 631 10116 0.0623764 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - SFI1 Arg518Gln R518Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2006771 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFI1 Arg549Gln R549Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2006771 4719 10506 0.449172 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - SFI1 Arg654Cys R654C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SFI1 Arg685Cys R685C not reviewed Insufficiently evaluated not reviewed unknown Array rs35047625 21 9980 0.00210421 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SFI1 Arg729His R729H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFI1 Arg760His R760H not reviewed Insufficiently evaluated not reviewed unknown Array rs9621295 691 10634 0.0649803 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - SFI1 Arg957His R957H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFI1 Arg988His R988H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - SFI1 Leu1056Pro L1056P not reviewed Insufficiently evaluated not reviewed unknown Array rs12171042 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SFI1 Leu1087Pro L1087P not reviewed Insufficiently evaluated not reviewed unknown Array rs12171042 3210 10138 0.316631 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SFMBT1 Arg454Cys R454C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 8 Y 2 N - - SFRP2 Ala45Val A45V not reviewed Insufficiently evaluated not reviewed unknown Array rs4643790 2282 10758 0.212121 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - SFRP4 Arg340Lys R340K not reviewed Insufficiently evaluated not reviewed unknown Array rs1802074 2625 10758 0.244004 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SFRP4 Pro320Thr P320T not reviewed Insufficiently evaluated not reviewed unknown Array rs1802073 4650 10758 0.432236 51 0 71 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SFRP5 Gly7Ala G7A not reviewed Insufficiently evaluated not reviewed unknown Array 1187 1738 0.682969 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SFRS12 Leu458Phe L458F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS12 Leu574Phe L574F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS14 Gln722Arg Q722R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS14 Gly206Ser G206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFRS15 Asp1036Glu D1036E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SFRS15 Asp1043Glu D1043E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SFRS15 Asp1058Glu D1058E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - SFRS15 Thr585Pro T585P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SFRS15 Thr600Pro T600P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SFRS16 Lys174Glu K174E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS16 Arg376Ser R376S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFRS16 Arg397Ser R397S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFRS17A Leu22Phe L22F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS17A Pro500Ala P500A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFRS17A Lys670Thr K670T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFRS2IP Arg847His R847H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFRS2IP Phe657Tyr F657Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SFRS4 Gly356Ser G356S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFRS4 Gly338Ala G338A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFRS4 Glu253Asp E253D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SFRS8 Leu421Pro L421P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SFT2D1 Val125Gly V125G not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.095 - - 8 Y 0 N - - SFT2D1 Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array rs11551053 381 10758 0.0354155 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SFT2D3 Arg38Gly R38G not reviewed Insufficiently evaluated not reviewed unknown Array rs10206957 1197 4538 0.263773 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SFTA2 Asn37Ser N37S not reviewed Insufficiently evaluated not reviewed unknown Array rs3131787 1240 7522 0.16485 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SFTPA2 Gln223Lys Q223K not reviewed Insufficiently evaluated not reviewed unknown Array rs1965708 2739 10750 0.254791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 2 - - SFTPA2 Thr9Asn T9N not reviewed Insufficiently evaluated not reviewed unknown Array rs1059046 2170 10644 0.203871 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - SFTPA2B Gln223Lys Q223K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SFTPA2B Thr9Asn T9N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFTPB Thr131Ile T131I not reviewed Insufficiently evaluated not reviewed unknown Array rs1130866 6464 10758 0.600855 48 0 65 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - SFTPC Tyr122Asn Y122N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - SFTPC Tyr122Ser Y122S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - SFTPC Ile123Val I123V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SFTPC Thr138Asn T138N not reviewed Insufficiently evaluated not reviewed unknown Array rs4715 2065 9896 0.20867 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 7 - - SFTPC Ser186Asn S186N not reviewed Insufficiently evaluated not reviewed unknown Array rs1124 2660 10186 0.261143 19 0 21 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 7 - - SFTPD Glu309Lys E309K not reviewed Insufficiently evaluated not reviewed unknown Array rs4469829 450 10758 0.0418293 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SFTPD Ser290Thr S290T not reviewed Insufficiently evaluated not reviewed unknown Array rs3088308 598 10758 0.0555865 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - SFTPD Thr180Ala T180A not reviewed Insufficiently evaluated not reviewed unknown Array rs2243639 7691 10758 0.71491 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SFTPD Gln80Stop Q80X not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SFTPD Met31Thr M31T not reviewed Insufficiently evaluated not reviewed unknown Array rs721917 4423 10758 0.411136 37 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SFXN2 Ile117Val I117V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SFXN2 Met146Ile M146I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.175 - - -1 - 0 N - - SFXN3 Asn300Lys N300K not reviewed Insufficiently evaluated not reviewed unknown Array rs57571683 145 10758 0.0134783 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFXN5 Glu68Gly E68G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - 6 Y 1 N - - SGCD Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45559835 469 9624 0.0487323 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SGCD Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - SGCE Ser432Arg S432R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SGCE Asn168His N168H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SGCG Asn287Ser N287S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800354 8833 10758 0.821063 55 0 98 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - SGCZ Ser214Thr S214T not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SGEF Val29Leu V29L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGEF Leu60Phe L60F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGEF Leu60Pro L60P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SGEF Phe203Ser F203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SGIP1 Glu112Gln E112Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17490057 470 10758 0.0436884 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.337 - - -2 - 1 N - - SGIP1 Lys131Arg K131R not reviewed Insufficiently evaluated not reviewed unknown Array rs7526812 2404 10758 0.223462 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.337 - - -3 - 0 N - - SGIP1 Pro320Leu P320L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 3 - 1 - - SGK1 Asn100Ile N100I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SGK1 Asn167Ile N167I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SGK1 Asn72Ile N72I not reviewed Insufficiently evaluated not reviewed unknown Array rs73560810 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - SGK1 Asn86Ile N86I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SGK1 Ala8Gly A8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 9 - - SGK196 Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGK2 Ser12Thr S12T not reviewed Insufficiently evaluated not reviewed unknown Array rs33969356 453 10758 0.0421082 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SGK269 Ser1542Thr S1542T not reviewed Insufficiently evaluated not reviewed unknown Array rs1867780 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SGK269 Arg1071Lys R1071K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SGK269 Ser792Ile S792I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SGK269 Ser768Ala S768A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SGK269 Asn318Asp N318D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SGK493 Tyr344Cys Y344C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SGMS1 Lys46Asn K46N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SGMS2 Thr230Met T230M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SGOL1 Gln322Pro Q322P not reviewed Insufficiently evaluated not reviewed unknown Array rs9868701 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SGOL2 Gly9Asp G9D not reviewed Insufficiently evaluated not reviewed unknown Array rs1036533 477 9430 0.0505832 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.486 - - 4 Y 0 N - - SGOL2 Ile496Val I496V not reviewed Insufficiently evaluated not reviewed unknown Array rs17448235 1454 9472 0.153505 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.423 - - -4 - 0 N - - SGOL2 Asn660Ser N660S not reviewed Insufficiently evaluated not reviewed unknown Array rs17532665 1135 9420 0.120488 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 1 N - - SGOL2 Glu1011Gln E1011Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - -2 - 0 N - - SGOL2 Ile1099Thr I1099T not reviewed Insufficiently evaluated not reviewed unknown Array rs11896759 24 9546 0.00251414 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.362 - - 3 - 2 - 3 - - SGOL2 His1143Arg H1143R not reviewed Insufficiently evaluated not reviewed unknown Array rs16833776 357 9570 0.0373041 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 3 - - SGPL1 Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array rs12770335 1105 10758 0.102714 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SGPP1 Tyr433Phe Y433F not reviewed Insufficiently evaluated not reviewed unknown Array rs74058052 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - SGSH Arg456His R456H not reviewed Insufficiently evaluated not reviewed unknown Array rs7503034 3154 10758 0.293177 30 0 34 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 4 - - SGSH Ala434Val A434V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 1 N - - SGSH Met372Ile M372I not reviewed Insufficiently evaluated not reviewed unknown Array rs58786455 258 10758 0.0239822 5 0 5 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - -1 - 3 N - - SGSH Val361Ile V361I not reviewed Insufficiently evaluated not reviewed unknown Array rs9894254 868 10758 0.0806841 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.049 Y - -4 - 1 N - - SGSH Leu357Phe L357F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 0 - 1 N - - SGSH Ala214Asp A214D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - SGSM1 Thr686Pro T686P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SGSM1 Thr741Pro T741P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SGSM1 Thr747Pro T747P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SGSM1 Thr802Pro T802P not reviewed Insufficiently evaluated not reviewed unknown Array rs6004350 961 10526 0.0912977 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SGSM1 Arg757Lys R757K not reviewed Insufficiently evaluated not reviewed unknown Array rs2073201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SGSM1 Arg812Lys R812K not reviewed Insufficiently evaluated not reviewed unknown Array rs2073201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SGSM1 Arg818Lys R818K not reviewed Insufficiently evaluated not reviewed unknown Array rs2073201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SGSM1 Arg873Lys R873K not reviewed Insufficiently evaluated not reviewed unknown Array rs2073201 567 10580 0.0535917 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - SGSM2 Ser37Thr S37T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - SGSM2 Cys79Ser C79S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733095 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 3 - 1 N - - SGSM2 His87Gln H87Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - -1 - 0 N - - SGSM2 Arg226Trp R226W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - 7 Y 1 N - - SGSM2 Arg238Lys R238K not reviewed Insufficiently evaluated not reviewed unknown Array rs745400 5101 10748 0.4746 31 0 46 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - SGSM2 Arg374Gln R374Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2248821 5274 10758 0.49024 35 0 51 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SGSM2 Ala443Val A443V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SGSM2 Ala457Thr A457T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SGSM2 Ala775Val A775V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SGSM2 Ala820Val A820V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744995 503 10758 0.0467559 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SGSM3 Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73420601 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - SH2B1 Thr484Ala T484A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7498665 3694 10758 0.343372 21 0 22 0 0 - - - - - - - - - - - - - - Y Y - - - 1 - 2 N - - SH2B1 Asp639Glu D639E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - -2 - 0 N - - SH2B1 Gly724Arg G724R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH2B2 Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SH2B3 Arg80Cys R80C not reviewed Insufficiently evaluated not reviewed unknown Array 51 6920 0.00736994 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SH2B3 Phe182Leu F182L not reviewed Insufficiently evaluated not reviewed unknown Array rs7972796 366 7110 0.0514768 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SH2B3 Pro242Ser P242S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - SH2B3 Trp262Arg W262R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3184504 6818 10758 0.633761 54 0 89 1 1 2 Y - - - - - - - - - - - - Y Y - - - 7 Y 2 N - - SH2B3 Arg508Gln R508Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 0 - 2 N - - SH2D1B Asn122Lys N122K not reviewed Insufficiently evaluated not reviewed unknown Array rs34001279 954 10758 0.0886782 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 1 N - - SH2D2A Asn52Ser N52S not reviewed Insufficiently evaluated not reviewed unknown Array rs926103 5945 10756 0.552715 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SH2D3A Ala555Val A555V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729851 141 10498 0.0134311 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH2D3A Asp223Gly D223G not reviewed Insufficiently evaluated not reviewed unknown Array rs12608960 1030 10758 0.0957427 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SH2D3A Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62125124 303 10758 0.0281651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SH2D3A Asn32Asp N32D not reviewed Insufficiently evaluated not reviewed unknown Array rs7258236 3053 10752 0.283947 32 0 36 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SH2D3C Ser181Gly S181G not reviewed Insufficiently evaluated not reviewed unknown Array rs35019975 895 10758 0.0831939 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SH2D3C Ser24Gly S24G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 2 - 1 N - - SH2D3C Leu23Phe L23F not reviewed Insufficiently evaluated not reviewed unknown Array rs10760500 4956 10758 0.46068 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.693 - - 0 - 0 N - - SH2D4A Glu168Val E168V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - SH2D4A Glu209Gly E209G not reviewed Insufficiently evaluated not reviewed unknown Array rs35647122 326 10758 0.030303 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.968 - - 6 Y 2 N - - SH2D4A Glu216Gly E216G not reviewed Insufficiently evaluated not reviewed unknown Array rs4921637 2639 10758 0.245306 33 0 37 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 1 N - - SH2D4A Gly263Ala G263A not reviewed Insufficiently evaluated not reviewed unknown Array rs877386 302 10758 0.0280721 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH2D4A Ser275Asn S275N not reviewed Insufficiently evaluated not reviewed unknown Array rs34608771 2704 10758 0.251348 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SH2D4B Leu131Pro L131P not reviewed Insufficiently evaluated not reviewed unknown Array rs12257493 117 10758 0.0108756 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - SH2D4B Leu82Pro L82P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - SH2D4B Ala104Ser A104S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH2D4B Ala153Ser A153S not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH2D4B Arg178Cys R178C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SH2D4B Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.715 - - 8 Y 1 N - - SH2D4B His189Arg H189R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH2D4B His238Arg H238R not reviewed Insufficiently evaluated not reviewed unknown Array rs7075840 3360 10742 0.312791 37 0 46 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 1 N - - SH2D4B Asp251Glu D251E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SH2D4B Asp299Glu D299E not reviewed Insufficiently evaluated not reviewed unknown Array rs17107368 1396 10758 0.129764 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SH2D4B Val254Ile V254I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SH2D4B Val302Ile V302I not reviewed Insufficiently evaluated not reviewed unknown Array 296 10758 0.0275144 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SH2D6 Val157Glu V157E not reviewed Insufficiently evaluated not reviewed unknown Array rs72936701 41 10756 0.00381183 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.486 - - 5 Y 1 N - - SH2D6 Cys168Tyr C168Y not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - 6 Y 0 N - - SH2D7 Met137Thr M137T not reviewed Insufficiently evaluated not reviewed unknown Array rs2289524 4667 10344 0.451179 21 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SH2D7 Arg206Trp R206W not reviewed Insufficiently evaluated not reviewed unknown Array rs12593575 2078 10134 0.205052 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SH3BGR Asp23Glu D23E not reviewed Insufficiently evaluated not reviewed unknown Array rs11575939 2225 10758 0.206823 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SH3BGR Asp50Asn D50N not reviewed Insufficiently evaluated not reviewed unknown Array rs6517549 10520 10758 0.977877 51 0 100 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SH3BGR Val188Ala V188A not reviewed Insufficiently evaluated not reviewed unknown Array rs9974333 5442 10758 0.505856 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SH3BGR Val77Ala V77A not reviewed Insufficiently evaluated not reviewed unknown Array rs9974333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3BGR Glu118Gly E118G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH3BGR Glu229Gly E229G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH3BGR Gly119Glu G119E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH3BGR Gly230Glu G230E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH3BGRL2 Lys19Gln K19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61348674 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SH3BP1 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 2 - - SH3BP1 Ala465Thr A465T not reviewed Insufficiently evaluated not reviewed unknown Array rs73422755 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3BP1 Pro511Leu P511L not reviewed Insufficiently evaluated not reviewed unknown Array rs929038 569 10758 0.0528909 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.662 - - 7 Y 0 N - - SH3BP1 Pro521Thr P521T not reviewed Insufficiently evaluated not reviewed unknown Array rs12170939 1385 10754 0.128789 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SH3BP4 Met155Thr M155T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731644 2135 10758 0.198457 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SH3BP4 Pro169Ala P169A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SH3BP4 Met178Leu M178L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - SH3BP4 Ala197Thr A197T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731646 1693 10758 0.157371 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SH3BP4 Ala347Ser A347S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - SH3BP4 Leu359Pro L359P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - 7 Y 0 N - - SH3BP4 Asn471Ser N471S not reviewed Insufficiently evaluated not reviewed unknown Array rs73995756 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH3BP4 Asn780Ser N780S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH3D19 Arg379His R379H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3D19 Arg415His R415H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3D19 Arg438His R438H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - SH3D19 Met378Thr M378T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3D19 Met414Thr M414T not reviewed Insufficiently evaluated not reviewed unknown Array 690 10754 0.0641622 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 2 - 0 N - - SH3D19 Leu373Pro L373P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 7 Y 1 N - - SH3D19 Leu409Pro L409P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - SH3D19 Ile112Met I112M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - SH3D20 Pro213Arg P213R not reviewed Insufficiently evaluated not reviewed unknown Array rs2959953 7272 10136 0.717443 31 0 45 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SH3D20 Ala117Thr A117T not reviewed Insufficiently evaluated not reviewed unknown Array 118 998 0.118236 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SH3PXD2A Gly786Arg G786R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SH3PXD2B Pro826Leu P826L not reviewed Insufficiently evaluated not reviewed unknown Array rs73317796 110 10756 0.0102269 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SH3PXD2B Asp515Asn D515N not reviewed Insufficiently evaluated not reviewed unknown Array rs62621449 102 10758 0.00948132 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - SH3RF1 Lys876Asn K876N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - SH3RF1 Lys876Ile K876I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SH3RF1 Lys876Gln K876Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - -2 - 2 N - - SH3RF1 Pro663Ser P663S not reviewed Insufficiently evaluated not reviewed unknown Array rs3811813 1051 10758 0.0976947 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SH3RF2 Arg267Cys R267C not reviewed Insufficiently evaluated not reviewed unknown Array rs758037 5989 10758 0.556702 46 0 67 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 1 N - - SH3RF2 Trp592Arg W592R not reviewed Insufficiently evaluated not reviewed unknown Array rs2962525 10575 10758 0.982989 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SH3RF2 Val687Ile V687I not reviewed Insufficiently evaluated not reviewed unknown Array rs11435 1117 10758 0.10383 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SH3RF2 Gly710Ala G710A not reviewed Insufficiently evaluated not reviewed unknown Array rs1056149 6205 10758 0.57678 50 0 72 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SH3RF3 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array rs34609468 726 3670 0.19782 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - SH3TC1 Asp291Asn D291N not reviewed Insufficiently evaluated not reviewed unknown Array rs1281138 242 10758 0.0224949 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH3TC1 Leu437Pro L437P not reviewed Insufficiently evaluated not reviewed unknown Array rs1281145 10409 10758 0.967559 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SH3TC1 Ala508Thr A508T not reviewed Insufficiently evaluated not reviewed unknown Array rs34994651 660 10728 0.0615213 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SH3TC1 Arg785Cys R785C not reviewed Insufficiently evaluated not reviewed unknown Array rs1281149 6318 10754 0.587502 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SH3TC1 Gly820Arg G820R not reviewed Insufficiently evaluated not reviewed unknown Array 184 10748 0.0171195 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH3TC1 Ala1076Pro A1076P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3TC1 Leu1088Met L1088M not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SH3TC2 Asn897Lys N897K not reviewed Insufficiently evaluated not reviewed unknown Array rs73795753 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - SH3TC2 Ala468Ser A468S not reviewed Insufficiently evaluated not reviewed unknown Array rs6875902 2598 10758 0.241495 24 0 26 0 0 4 Y - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - SH3TC2 Gly171Glu G171E not reviewed Insufficiently evaluated not reviewed unknown Array rs17722293 141 10758 0.0131065 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 6 Y 2 N - - SHANK1 Val1504Ala V1504A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745521 5338 6148 0.86825 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SHANK1 Pro1024His P1024H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SHANK1 Asp897Glu D897E not reviewed Insufficiently evaluated not reviewed unknown Array rs41275782 665 10752 0.061849 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SHANK1 Asp200Gly D200G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SHANK2 Arg1064Stop R1064X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SHANK2 Arg747Gly R747G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SHANK2 Val336Ile V336I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SHANK3 Ile245Thr I245T not reviewed Insufficiently evaluated not reviewed unknown Array rs9616915 4873 10168 0.479249 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SHARPIN Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10242 0.00322203 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SHARPIN Pro294Ser P294S not reviewed Insufficiently evaluated not reviewed unknown Array rs34674752 338 10396 0.0325125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - SHARPIN Ser282Thr S282T not reviewed Insufficiently evaluated not reviewed unknown Array rs11541804 618 10538 0.0586449 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.86 - - -2 - 1 N - - SHARPIN Ser17Phe S17F not reviewed Insufficiently evaluated not reviewed unknown Array rs34173062 155 3152 0.0491751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SHB Asn451Thr N451T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - SHB Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 8 5410 0.00147874 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHBG Asp241Asn D241N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SHBG Asp338Asn D338N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SHBG Asp356Asn D356N not reviewed Insufficiently evaluated not reviewed unknown Array rs6259 997 10758 0.0926752 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - SHC1 Met300Val M300V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHC1 Met410Val M410V not reviewed Insufficiently evaluated not reviewed unknown Array rs8191979 741 10758 0.068879 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SHC1 Ala205Val A205V not reviewed Insufficiently evaluated not reviewed unknown Array rs8191981 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 1 - 6 - - SHC1 Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - SHC2 Thr478Met T478M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SHC2 Gly110Ala G110A not reviewed Insufficiently evaluated not reviewed unknown Array 1096 1204 0.910299 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SHCBP1 Met60Arg M60R not reviewed Insufficiently evaluated not reviewed unknown Array rs11545690 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.58 - - 4 Y 1 N - - SHCBP1 Met21Thr M21T not reviewed Insufficiently evaluated not reviewed unknown Array rs6598679 10429 10628 0.981276 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SHD Gly138Ser G138S not reviewed Insufficiently evaluated not reviewed unknown Array rs2287714 395 10758 0.0367169 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHD Asn270Ser N270S not reviewed Insufficiently evaluated not reviewed unknown Array rs888930 4690 10754 0.436117 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SHF Asn349Thr N349T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHF Pro299Leu P299L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SHF Arg288Stop R288X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SHF Ala177Pro A177P not reviewed Insufficiently evaluated not reviewed unknown Array rs1632144 10660 10738 0.992736 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SHF Ile90Val I90V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - SHF Ser64Leu S64L not reviewed Insufficiently evaluated not reviewed unknown Array 496 10096 0.0491284 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SHF Trp46Ser W46S not reviewed Insufficiently evaluated not reviewed unknown Array rs62026667 738 10036 0.0735353 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SHISA2 Val216Met V216M not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - SHISA2 Gly60Asp G60D not reviewed Insufficiently evaluated not reviewed unknown Array 838 8676 0.0965883 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.469 - - 4 Y 0 N - - SHISA3 Trp13Cys W13C not reviewed Insufficiently evaluated not reviewed unknown Array rs11733156 2503 10524 0.237837 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SHISA3 Ser236Ile S236I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 5 Y 1 N - - SHISA4 Ile159Met I159M not reviewed Insufficiently evaluated not reviewed unknown Array rs2250377 7733 10756 0.718948 53 0 88 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SHKBP1 Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.351 - - 0 - 1 N - - SHKBP1 Val146Gly V146G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - SHMT1 Leu435Phe L435F not reviewed Insufficiently evaluated not reviewed unknown Array rs1979277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHMT1 Leu474Phe L474F not reviewed Insufficiently evaluated not reviewed unknown Array rs1979277 3340 10750 0.310698 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SHMT1 Leu197Pro L197P not reviewed Insufficiently evaluated not reviewed unknown Array rs73291881 6 10754 0.000557931 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.901 - - 7 Y 2 N - - SHMT2 Ser50Leu S50L not reviewed Insufficiently evaluated not reviewed unknown Array rs73338162 337 10758 0.0313255 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.067 - - 6 Y 0 N - - SHMT2 Pro167Arg P167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - SHOX2 Ala129Val A129V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHOX2 Ala270Val A270V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - SHPK Asp421Glu D421E not reviewed Insufficiently evaluated not reviewed unknown Array rs224496 10757 10758 0.999907 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SHPK Met413Val M413V not reviewed Insufficiently evaluated not reviewed unknown Array rs35091524 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - SHPK Glu215Lys E215K not reviewed Insufficiently evaluated not reviewed unknown Array rs150857 2333 10758 0.216862 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - SHQ1 Ser489Asn S489N not reviewed Insufficiently evaluated not reviewed unknown Array rs35178407 4040 10758 0.375534 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SHROOM1 Pro180Leu P180L not reviewed Insufficiently evaluated not reviewed unknown Array 567 6746 0.0840498 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 1 N - - SHROOM2 Gly666Trp G666W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733859 34 8533 0.00398453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 7 Y 0 N - - SHROOM2 Ala858Gly A858G not reviewed Insufficiently evaluated not reviewed unknown Array rs73474584 60 8755 0.00685323 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - SHROOM2 Ile1475Val I1475V not reviewed Insufficiently evaluated not reviewed unknown Array rs12012202 698 8761 0.0796713 12 0 18 0 0 - - - - - - - - - - - - - - - - 0.691 - - -4 - 1 - 3 - - SHROOM2 Leu1607Phe L1607F not reviewed Insufficiently evaluated not reviewed unknown Array rs2073942 3545 8755 0.404911 36 0 65 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SHROOM3 Leu147His L147H not reviewed Insufficiently evaluated not reviewed unknown Array 1586 10758 0.147425 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SHROOM3 Arg211Thr R211T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.783 - - 3 - 1 N - - SHROOM3 Gly279Ala G279A not reviewed Insufficiently evaluated not reviewed unknown Array rs344140 7646 10758 0.710727 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SHROOM3 Ser325Ala S325A not reviewed Insufficiently evaluated not reviewed unknown Array 715 10758 0.0664622 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 1 N - - SHROOM3 Pro469Ala P469A not reviewed Insufficiently evaluated not reviewed unknown Array rs344141 5951 10758 0.55317 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SHROOM3 Tyr501Stop Y501X not reviewed Insufficiently evaluated not reviewed unknown Array 322 10758 0.0299312 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SHROOM3 Val1054Leu V1054L not reviewed Insufficiently evaluated not reviewed unknown Array 773 10752 0.0718936 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SHROOM3 Pro1290Leu P1290L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733242 5234 10758 0.486522 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SHROOM3 Arg1430Gln R1430Q not reviewed Insufficiently evaluated not reviewed unknown Array 339 10758 0.0315114 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHROOM3 Asn1972Asp N1972D not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SHROOM4 Lys1129Gln K1129Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 57 0.0175439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SHROOM4 Met1049Ile M1049I not reviewed Insufficiently evaluated not reviewed unknown Array rs61753876 157 8761 0.0179203 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 1 N - - SHROOM4 Ser351Arg S351R not reviewed Insufficiently evaluated not reviewed unknown Array rs59595864 8 8761 0.000913137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - SI Thr1802Ser T1802S not reviewed Insufficiently evaluated not reviewed unknown Array rs9917722 602 10754 0.0559792 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SI Met1523Ile M1523I not reviewed Insufficiently evaluated not reviewed unknown Array rs4855271 9020 9768 0.923423 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SI Pro1200Ser P1200S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - SI Thr231Ser T231S not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 6 - - SI Thr231Ala T231A not reviewed Insufficiently evaluated not reviewed unknown Array rs9283633 6020 10758 0.559584 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SI Val15Phe V15F not reviewed Insufficiently evaluated not reviewed unknown Array rs9290264 2869 10748 0.266933 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIAE Ala467Val A467V not reviewed Insufficiently evaluated not reviewed unknown Array rs7941523 256 10758 0.0237962 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIAE Met89Val M89V pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 431 10758 0.0400632 4 0 5 2 2 2 Y 2 Y 0 Y - - 3 Y 3 Y - - - - 0.015 - - 0 - 0 N 1 0 This variant was reported to be associated with autoimmune disease when homozygous. However, a later publication has contradicted this result, finding no significant association between this variant and autoimmune disease in a very large cohort. SIAE Lys71Arg K71R not reviewed Insufficiently evaluated not reviewed unknown Array rs12282107 844 10758 0.0784532 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.038 - - -3 - 0 N - - SIAE Gly64Ser G64S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIAH1 Leu10Val L10V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIDT1 Val78Met V78M not reviewed Insufficiently evaluated not reviewed unknown Array rs2271496 250 10758 0.0232385 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 3 - 3 - - SIDT1 Val295Gly V295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - SIDT1 Thr296Ala T296A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 0 N - - SIDT1 Thr296Ser T296S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - -2 - 0 N - - SIDT1 Thr363Ile T363I not reviewed Insufficiently evaluated not reviewed unknown Array rs33990195 801 10758 0.0744562 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 1 N - - SIDT1 Tyr602Cys Y602C not reviewed Insufficiently evaluated not reviewed unknown Array rs34023543 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SIDT1 Phe700Leu F700L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - SIDT2 Asn501Lys N501K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - SIDT2 Thr631Met T631M not reviewed Insufficiently evaluated not reviewed unknown Array rs12285035 189 10758 0.0175683 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SIGIRR Gln312Arg Q312R not reviewed Insufficiently evaluated not reviewed unknown Array rs3210908 8879 10734 0.827185 51 0 88 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SIGIRR Pro115Arg P115R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10744 0.00428146 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - SIGLEC1 Ser1335Tyr S1335Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 3 - 5 - - SIGLEC1 Ala974Val A974V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746638 5228 10758 0.485964 39 0 53 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SIGLEC1 Arg946His R946H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SIGLEC1 His919Pro H919P not reviewed Insufficiently evaluated not reviewed unknown Array rs709012 7166 10756 0.666233 52 0 76 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SIGLEC1 Val665Phe V665F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - SIGLEC1 Arg606Ser R606S not reviewed Insufficiently evaluated not reviewed unknown Array rs73583079 59 10512 0.00561263 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.407 - - 3 - 1 N - - SIGLEC1 Lys239Arg K239R not reviewed Insufficiently evaluated not reviewed unknown Array rs625372 6629 10758 0.616193 45 0 60 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - SIGLEC1 Val221Met V221M not reviewed Insufficiently evaluated not reviewed unknown Array rs6037651 6848 10758 0.63655 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - SIGLEC1 Val141Leu V141L not reviewed Insufficiently evaluated not reviewed unknown Array rs35953127 455 10758 0.0422941 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 3 - - SIGLEC10 Arg520Ser R520S not reviewed Insufficiently evaluated not reviewed unknown Array rs1833785 2337 10752 0.217355 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIGLEC10 Trp476Arg W476R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SIGLEC10 Ser445Pro S445P not reviewed Insufficiently evaluated not reviewed unknown Array rs61741672 2178 10756 0.202492 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIGLEC10 Ala226Val A226V not reviewed Insufficiently evaluated not reviewed unknown Array rs9304711 3661 10752 0.340495 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SIGLEC10 Asn210Asp N210D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741677 948 10758 0.0881205 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SIGLEC10 Gln144Lys Q144K not reviewed Insufficiently evaluated not reviewed unknown Array 1842 10758 0.171221 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.072 - - -2 - 0 N - - SIGLEC11 Asp504Asn D504N not reviewed Insufficiently evaluated not reviewed unknown Array rs45438992 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC11 Asp600Asn D600N not reviewed Insufficiently evaluated not reviewed unknown Array rs45438992 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.559 - - -1 - 1 N - - SIGLEC11 Ala365Gly A365G not reviewed Insufficiently evaluated not reviewed unknown Array rs62113133 1985 10752 0.184617 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SIGLEC11 Ala248Ser A248S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 2 N - - SIGLEC11 Lys157Gln K157Q not reviewed Insufficiently evaluated not reviewed unknown Array 1971 10238 0.192518 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SIGLEC11 Glu96Ala E96A not reviewed Insufficiently evaluated not reviewed unknown Array 3509 10636 0.329917 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 3 - - SIGLEC12 Tyr468Cys Y468C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIGLEC12 Tyr586Cys Y586C not reviewed Insufficiently evaluated not reviewed unknown Array rs7245807 430 10758 0.0399703 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SIGLEC12 Pro428Gln P428Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SIGLEC12 Pro546Gln P546Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57043266 1295 10758 0.120376 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.267 - - 4 Y 0 N - - SIGLEC12 Arg410Trp R410W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - SIGLEC12 Arg528Trp R528W not reviewed Insufficiently evaluated not reviewed unknown Array rs61743147 353 10758 0.0328128 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.9 - - 7 Y 2 N - - SIGLEC12 Lys390Gln K390Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SIGLEC12 Lys508Gln K508Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73575433 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - SIGLEC12 Ile379Val I379V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIGLEC12 Ile497Val I497V not reviewed Insufficiently evaluated not reviewed unknown Array rs28572419 368 10758 0.0342071 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIGLEC12 Tyr376Ser Y376S not reviewed Insufficiently evaluated not reviewed unknown Array rs3752135 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIGLEC12 Tyr494Ser Y494S not reviewed Insufficiently evaluated not reviewed unknown Array rs3752135 9552 10758 0.887897 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SIGLEC12 Thr360Met T360M not reviewed Insufficiently evaluated not reviewed unknown Array rs3829658 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC12 Thr478Met T478M not reviewed Insufficiently evaluated not reviewed unknown Array rs3829658 6917 10758 0.642963 45 0 62 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - SIGLEC12 His280Tyr H280Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11668530 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC12 His398Tyr H398Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11668530 4150 10758 0.385759 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.069 - - -1 - 0 N - - SIGLEC12 Met156Ile M156I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC12 Met274Ile M274I not reviewed Insufficiently evaluated not reviewed unknown Array rs73051357 137 10756 0.0127371 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC12 His217Gln H217Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6509544 9517 10758 0.884644 52 0 90 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - SIGLEC12 His99Gln H99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6509544 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC12 Thr160Ile T160I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 3 - 3 - 1 - - SIGLEC12 Thr42Ile T42I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIGLEC12 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array rs3810110 6633 10758 0.616564 44 0 60 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SIGLEC12 Pro81Thr P81T not reviewed Insufficiently evaluated not reviewed unknown Array rs2034891 396 10758 0.0368098 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.756 - - 4 Y 1 N - - SIGLEC12 Ala77Thr A77T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - SIGLEC12 Arg65Gly R65G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SIGLEC12 Gln29Stop Q29X not reviewed Insufficiently evaluated not reviewed unknown Array rs16982743 2494 10756 0.231871 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SIGLEC14 Val215Met V215M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10374 0.000385579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - SIGLEC14 Val72Ala V72A not reviewed Insufficiently evaluated not reviewed unknown Array 287 8004 0.0358571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC15 Phe273Leu F273L not reviewed Insufficiently evaluated not reviewed unknown Array rs2919643 2333 10014 0.232974 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SIGLEC15 Thr324Ile T324I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - SIGLEC5 Pro499Ala P499A not reviewed Insufficiently evaluated not reviewed unknown Array rs3829655 4291 10758 0.398866 38 0 53 0 0 - - - - - - - - - - - - - - - - 0.926 - - 2 - 1 N - - SIGLEC5 Arg358Trp R358W not reviewed Insufficiently evaluated not reviewed unknown Array rs8108074 2391 10684 0.223793 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SIGLEC5 Arg356Stop R356X not reviewed Insufficiently evaluated not reviewed unknown Array rs8108078 472 10690 0.0441534 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SIGLEC5 Phe322Ser F322S not reviewed Insufficiently evaluated not reviewed unknown Array rs2278831 845 10758 0.0785462 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SIGLEC5 Val72Ala V72A not reviewed Insufficiently evaluated not reviewed unknown Array 465 8108 0.0573508 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SIGLEC6 Gly262Ser G262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC6 Gly278Ser G278S not reviewed Insufficiently evaluated not reviewed unknown Array rs35931837 853 10756 0.0793046 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SIGLEC6 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60467951 244 10688 0.0228293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.83 - - 0 - 1 N - - SIGLEC6 Ala22Pro A22P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SIGLEC8 Ser438Leu S438L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - SIGLEC8 Arg388Gly R388G not reviewed Insufficiently evaluated not reviewed unknown Array rs3829659 3719 10758 0.345696 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 1 N - - SIGLEC8 Ser170Pro S170P not reviewed Insufficiently evaluated not reviewed unknown Array rs10409962 2312 10758 0.21491 20 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIGLEC9 Pro55Ser P55S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.196 - - 3 - 0 N - - SIGLEC9 Lys100Glu K100E not reviewed Insufficiently evaluated not reviewed unknown Array rs2075803 5490 10758 0.510318 42 0 55 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SIGLEC9 Lys131Gln K131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16988910 1108 10758 0.102993 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SIGLEC9 Asn147Lys N147K not reviewed Insufficiently evaluated not reviewed unknown Array rs273687 335 10758 0.0311396 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SIGLEC9 Ala315Glu A315E not reviewed Insufficiently evaluated not reviewed unknown Array rs2258983 7190 10758 0.66834 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIGLEC9 Ala316Asp A316D not reviewed Insufficiently evaluated not reviewed unknown Array rs273688 1252 10758 0.116379 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SIGLEC9 Val349Ala V349A not reviewed Insufficiently evaluated not reviewed unknown Array rs273690 1257 10758 0.116843 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIGMAR1 Arg177Trp R177W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIGMAR1 Arg208Trp R208W not reviewed Insufficiently evaluated not reviewed unknown Array rs11559048 78 10758 0.00725042 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - SIGMAR1 Gln2Pro Q2P not reviewed Insufficiently evaluated not reviewed unknown Array rs1800866 965 8094 0.119224 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SIK1 Ala615Val A615V not reviewed Insufficiently evaluated not reviewed unknown Array rs430554 9001 10592 0.849792 36 0 63 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SIK1 Arg127Leu R127L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SIK1 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array rs3746951 1957 10712 0.182692 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SIL1 Glu347Lys E347K not reviewed Insufficiently evaluated not reviewed unknown Array rs73265454 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.069 Y Y 0 - 2 N - - SIL1 Lys132Gln K132Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745568 301 10758 0.0279792 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y -2 - 4 N - - SILV Val596Ala V596A not reviewed Insufficiently evaluated not reviewed unknown Array rs57990974 320 10758 0.0297453 10 0 10 0 0 - - - - - - - - - - - - - - - - - - Y 2 - 2 N - - SILV Gly505Ser G505S not reviewed Insufficiently evaluated not reviewed unknown Array 320 10758 0.0297453 9 0 9 0 0 - - - - - - - - - - - - - - - - - - Y 2 - 2 N - - SIM1 Ala371Val A371V not reviewed Insufficiently evaluated not reviewed unknown Array rs3734355 1074 10758 0.0998327 11 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 9 - - SIM1 Pro352Thr P352T not reviewed Insufficiently evaluated not reviewed unknown Array rs3734354 1072 10758 0.0996468 13 0 19 0 0 - - - - - - - - - - - - Y - - - 0.365 Y - 4 Y 2 - 8 - - SIM1 Leu140Val L140V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 3 N - - SIM2 Leu483Met L483M not reviewed Insufficiently evaluated not reviewed unknown Array rs2073601 2829 10758 0.262967 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - SIN3A Met1156Leu M1156L not reviewed Insufficiently evaluated not reviewed unknown Array rs60213317 81 10758 0.00752928 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - SIN3B Ser266Gly S266G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - SIN3B Ser1161Leu S1161L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10692 0.00224467 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 6 Y 1 N - - SIPA1 Ala106Ser A106S not reviewed Insufficiently evaluated not reviewed unknown Array rs3741379 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 5 - - SIPA1 Gly161Glu G161E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIPA1 Ser182Phe S182F not reviewed Insufficiently evaluated not reviewed unknown Array rs3741378 1928 10756 0.179249 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 0 N - - SIPA1 Arg565Trp R565W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - SIPA1 Gln598His Q598H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SIPA1L1 Arg40Gln R40Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - SIPA1L1 Pro56Thr P56T not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 2 - 4 - - SIPA1L1 Leu837Val L837V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - SIPA1L1 Ile1185Thr I1185T not reviewed Insufficiently evaluated not reviewed unknown Array rs79937396 300 10758 0.0278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - SIPA1L2 Gly1639Ser G1639S not reviewed Insufficiently evaluated not reviewed unknown Array rs2275303 51 10026 0.00508677 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.536 - - 2 - 1 N - - SIPA1L2 Arg1469Gly R1469G not reviewed Insufficiently evaluated not reviewed unknown Array rs34110867 163 9560 0.0170502 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 1 N - - SIPA1L2 Met1424Leu M1424L not reviewed Insufficiently evaluated not reviewed unknown Array rs3210731 1499 9864 0.151967 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.291 - - -3 - 0 N - - SIPA1L2 Ser1403Leu S1403L not reviewed Insufficiently evaluated not reviewed unknown Array rs1547742 740 9862 0.0750355 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.838 - - 6 Y 0 N - - SIPA1L2 Thr1322Ala T1322A not reviewed Insufficiently evaluated not reviewed unknown Array rs2275307 2828 10332 0.273713 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SIPA1L2 Ser1234Phe S1234F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - SIPA1L3 Ala57Gly A57G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SIPA1L3 Ala59Gly A59G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - SIPA1L3 Ala63Gly A63G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIPA1L3 Ala114Asp A114D not reviewed Insufficiently evaluated not reviewed unknown Array rs73630827 288 10758 0.0267708 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - SIPA1L3 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array rs45572940 225 10492 0.0214449 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.069 - - 7 Y 0 N - - SIPA1L3 Gly312Trp G312W not reviewed Insufficiently evaluated not reviewed unknown Array rs62121430 319 10096 0.0315967 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - SIPA1L3 Gly315Ala G315A not reviewed Insufficiently evaluated not reviewed unknown Array rs10405667 1488 10094 0.147414 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.469 - - 1 - 0 N - - SIPA1L3 Thr1198Met T1198M not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIPA1L3 Pro1450Ala P1450A not reviewed Insufficiently evaluated not reviewed unknown Array rs3745945 607 10758 0.0564231 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.854 - - 2 - 1 N - - SIPA1L3 Arg1468Gln R1468Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729145 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.815 - - 0 - 1 N - - SIRPA Gly75Ala G75A not reviewed Insufficiently evaluated not reviewed unknown Array rs1057114 1887 10752 0.175502 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SIRPA Arg107Ser R107S not reviewed Insufficiently evaluated not reviewed unknown Array rs17855615 1650 10746 0.153545 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIRPA Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array rs1135202 1649 10746 0.153452 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIRPB1 Ala181Val A181V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRPB1 Ala398Val A398V not reviewed Insufficiently evaluated not reviewed unknown Array rs62623705 1170 10756 0.108776 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - SIRPB1 Ala146Pro A146P not reviewed Insufficiently evaluated not reviewed unknown Array rs2243603 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRPB1 Ala363Pro A363P not reviewed Insufficiently evaluated not reviewed unknown Array rs2243603 8797 10746 0.81863 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIRPB1 Ile229Met I229M not reviewed Insufficiently evaluated not reviewed unknown Array rs2253427 8904 10758 0.827663 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SIRPB1 Ser106Arg S106R not reviewed Insufficiently evaluated not reviewed unknown Array rs41275422 1445 10666 0.135477 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIRPB1 Leu301Val L301V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SIRPB1 Arg106Ser R106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIRPB1 Gly74Ala G74A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIRPB1 Thr51Ile T51I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - SIRPB1 Ile42Val I42V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIRPB1 Arg23Gly R23G not reviewed Insufficiently evaluated not reviewed unknown Array rs1535882 3039 10758 0.282487 31 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SIRPB2 Val193Met V193M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIRPB2 Val291Met V291M not reviewed Insufficiently evaluated not reviewed unknown Array 356 7820 0.0455243 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.55 - - 0 - 1 N - - SIRPB2 Glu117Ala E117A not reviewed Insufficiently evaluated not reviewed unknown Array rs6042507 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIRPB2 Glu215Ala E215A not reviewed Insufficiently evaluated not reviewed unknown Array rs6042507 7102 7820 0.908184 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIRPB2 Gly153Glu G153E not reviewed Insufficiently evaluated not reviewed unknown Array rs6033876 403 7820 0.0515345 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.924 - - 6 Y 1 N - - SIRPB2 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIRPD Ala163Pro A163P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRPD Asn55Asp N55D not reviewed Insufficiently evaluated not reviewed unknown Array rs2249317 9376 10758 0.871537 55 0 94 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SIRPG Gln354Lys Q354K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.046 - - -2 - 0 N - - SIRPG Ser286Leu S286L not reviewed Insufficiently evaluated not reviewed unknown Array rs6034239 5588 10758 0.519427 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SIRPG Val263Ala V263A not reviewed Insufficiently evaluated not reviewed unknown Array rs6043409 7605 10758 0.706916 56 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIRT2 Gly140Arg G140R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIRT2 Gly177Arg G177R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SIRT3 Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRT3 Gly369Ser G369S not reviewed Insufficiently evaluated not reviewed unknown Array rs3020901 202 10758 0.0187767 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SIRT3 Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array rs11246020 1670 10758 0.155233 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SIRT3 Val66Ile V66I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIRT3 Arg80Trp R80W not reviewed Insufficiently evaluated not reviewed unknown Array rs28365927 1299 10734 0.121017 18 0 17 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 1 N - - SIRT3 Ala8Val A8V not reviewed Insufficiently evaluated not reviewed unknown Array rs2974901 148 9686 0.0152798 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRT5 Phe285Leu F285L not reviewed Insufficiently evaluated not reviewed unknown Array rs9464003 102 10758 0.00948132 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.472 - - 0 - 2 - 5 - - SIRT5 Glu305Gly E305G not reviewed Insufficiently evaluated not reviewed unknown Array rs34162626 410 10758 0.0381112 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.861 - - 6 Y 2 N - - SIRT6 Ala275Thr A275T not reviewed Insufficiently evaluated not reviewed unknown Array 117 10382 0.0112695 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIRT6 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10712 9.3353e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - SIRT6 Ser46Asn S46N not reviewed Insufficiently evaluated not reviewed unknown Array rs352493 10150 10758 0.943484 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SIVA1 Thr141Ser T141S not reviewed Insufficiently evaluated not reviewed unknown Array rs8010264 132 10758 0.0122699 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SIVA1 Thr76Ser T76S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - -2 - 0 N - - SIX4 Arg712His R712H not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIX4 His605Pro H605P not reviewed Insufficiently evaluated not reviewed unknown Array rs3742636 7023 10758 0.652817 52 0 77 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SIX4 Thr432Ala T432A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740042 556 10758 0.0516825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SIX5 Val693Met V693M not reviewed Insufficiently evaluated not reviewed unknown Array rs2341097 3685 10758 0.342536 26 0 31 0 0 - - - - - - - - - - - - Y - - - 0.086 Y Y 0 - 2 N - - SIX5 Pro635Ser P635S not reviewed Insufficiently evaluated not reviewed unknown Array rs2014576 4291 10688 0.401478 34 0 49 0 0 4 Y - - - - - - - - - - Y - - - 0.891 Y Y 3 - 4 - 2 - - SIX5 Leu556Val L556V not reviewed Insufficiently evaluated not reviewed unknown Array rs2014377 9367 10750 0.871349 46 0 85 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - SIX6 His141Asn H141N not reviewed Insufficiently evaluated not reviewed unknown Array rs33912345 4670 10756 0.434176 22 0 29 0 0 3 Y - - - - - - - - - - Y - - - 0.008 Y Y 0 - 2 N - - SKAP1 Ser242Gly S242G not reviewed Insufficiently evaluated not reviewed unknown Array rs35288886 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - SKAP1 Gly161Ser G161S not reviewed Insufficiently evaluated not reviewed unknown Array rs2278868 5728 10758 0.532441 44 0 67 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SKAP2 Ser253Thr S253T not reviewed Insufficiently evaluated not reviewed unknown Array rs17154402 213 10756 0.0198029 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 1 - 3 - - SKAP2 Ala202Ser A202S not reviewed Insufficiently evaluated not reviewed unknown Array rs1129771 1491 10754 0.138646 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SKI Ala388Val A388V not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SKIL Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array rs3772173 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SKIL Ala38Val A38V not reviewed Insufficiently evaluated not reviewed unknown Array rs3772173 7683 10758 0.714166 47 0 73 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SKIV2L Gln151Arg Q151R not reviewed Insufficiently evaluated not reviewed unknown Array rs438999 1286 10758 0.119539 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SKIV2L Met214Leu M214L not reviewed Insufficiently evaluated not reviewed unknown Array rs437179 8369 10758 0.777933 50 0 89 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SKIV2L Glu225Lys E225K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SKIV2L Arg324Trp R324W not reviewed Insufficiently evaluated not reviewed unknown Array rs36038685 109 7524 0.014487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SKIV2L Arg606Cys R606C not reviewed Insufficiently evaluated not reviewed unknown Array 8 7522 0.00106355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SKIV2L Asp887Asn D887N not reviewed Insufficiently evaluated not reviewed unknown Array rs3911893 409 7524 0.0543594 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SKIV2L Val917Met V917M not reviewed Insufficiently evaluated not reviewed unknown Array rs106287 168 7518 0.0223464 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - SKIV2L Ala1071Val A1071V not reviewed Insufficiently evaluated not reviewed unknown Array rs449643 1513 7516 0.201304 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SKIV2L Met1084Ile M1084I not reviewed Insufficiently evaluated not reviewed unknown Array rs58092713 8 7520 0.00106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SKIV2L2 Met783Ile M783I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SLA Pro15Thr P15T not reviewed Insufficiently evaluated not reviewed unknown Array rs4486183 14 128 0.109375 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - SLA Pro32Thr P32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLA Pro55Thr P55T not reviewed Insufficiently evaluated not reviewed unknown Array 519 10758 0.0482432 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLA2 Cys193Tyr C193Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - SLA2 Val210Met V210M not reviewed Insufficiently evaluated not reviewed unknown Array rs34834764 334 10758 0.0310467 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 1 - 3 - - SLAIN1 Ile265Lys I265K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLAIN1 Ile309Lys I309K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLAMF1 Pro333Thr P333T not reviewed Insufficiently evaluated not reviewed unknown Array rs3796504 675 10758 0.062744 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - SLAMF1 Thr304Pro T304P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SLAMF1 Phe11Leu F11L not reviewed Insufficiently evaluated not reviewed unknown Array rs2295612 1526 10758 0.141848 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SLAMF6 Arg252Lys R252K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - -3 - 0 N - - SLAMF7 His175Tyr H175Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35325048 345 10758 0.0320692 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.097 - - -1 - 0 N - - SLAMF7 Asn176Lys N176K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - SLAMF8 Gly99Ser G99S not reviewed Insufficiently evaluated not reviewed unknown Array rs34687326 944 10758 0.0877487 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - SLAMF9 Glu181Lys E181K not reviewed Insufficiently evaluated not reviewed unknown Array rs34884993 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 3 - 3 - - SLAMF9 Ile127Leu I127L not reviewed Insufficiently evaluated not reviewed unknown Array rs2789417 9254 10758 0.860197 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLAMF9 Val86Met V86M not reviewed Insufficiently evaluated not reviewed unknown Array rs34540580 266 10758 0.0247258 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - SLAMF9 Ala32Val A32V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732670 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 2 - 1 N - - SLC10A2 Phe304Leu F304L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 2 - - SLC10A2 Ser171Ala S171A not reviewed Insufficiently evaluated not reviewed unknown Array rs188096 9583 10758 0.890779 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC10A5 Ile287Thr I287T not reviewed Insufficiently evaluated not reviewed unknown Array rs7012758 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC10A5 Ile143Asn I143N not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - SLC10A5 Ser47Thr S47T not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SLC10A6 Leu204Phe L204F not reviewed Insufficiently evaluated not reviewed unknown Array rs61734716 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SLC10A6 Val199Ile V199I not reviewed Insufficiently evaluated not reviewed unknown Array rs57559561 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC10A6 Arg185Thr R185T not reviewed Insufficiently evaluated not reviewed unknown Array rs72874286 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.727 - - 3 - 1 N - - SLC10A6 Ile114Val I114V not reviewed Insufficiently evaluated not reviewed unknown Array rs13106574 1911 10758 0.177635 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - SLC10A7 Ile237Met I237M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SLC11A1 Arg397Cys R397C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SLC11A1 Arg419Gln R419Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SLC11A1 Asp543Asn D543N not reviewed Insufficiently evaluated not reviewed unknown Array rs17235409 345 10754 0.0320811 6 0 6 0 0 - - - - - - - - - - - - - Y - - 0.011 - - -1 - 2 N - - SLC12A1 Arg116His R116H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SLC12A1 Glu405Lys E405K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC12A1 Val958Ala V958A not reviewed Insufficiently evaluated not reviewed unknown Array rs1552311 10636 10662 0.997561 56 0 112 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - SLC12A3 Ala263Gly A263G not reviewed Insufficiently evaluated not reviewed unknown Array rs1529927 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SLC12A3 Ala264Gly A264G not reviewed Insufficiently evaluated not reviewed unknown Array rs1529927 10469 10758 0.973136 54 0 105 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - SLC12A3 Asn621Ser N621S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC12A3 Asn622Ser N622S not reviewed Insufficiently evaluated not reviewed unknown Array rs61746763 147 10536 0.0139522 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC12A3 Ser824Thr S824T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - SLC12A3 Ser832Thr S832T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - SLC12A3 Ser833Thr S833T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - SLC12A3 Arg904Gln R904Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 3 - - SLC12A3 Arg912Gln R912Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC12A3 Arg913Gln R913Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11643718 800 10758 0.0743633 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 3 - - SLC12A3 Arg919Cys R919C pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 4 - - This variant was seen as a compound heterozygote together with G741R + R968* and R968* in patients with Gitelman's syndrome. Both individuals were familial cases from N. Europe. The variant was also reported in 1/50 control chromosomes. SLC12A3 Arg927Cys R927C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - SLC12A3 Arg928Cys R928C not reviewed Insufficiently evaluated not reviewed unknown Array rs12708965 380 10758 0.0353226 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 8 - - SLC12A4 Glu4Gly E4G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC12A7 Asp995Val D995V not reviewed Insufficiently evaluated not reviewed unknown Array rs73731146 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - SLC12A7 Ala408Thr A408T not reviewed Insufficiently evaluated not reviewed unknown Array rs4526148 4860 10758 0.451757 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC12A8 Arg664Gln R664Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2981482 6201 10240 0.605566 49 0 64 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - SLC12A8 Arg633Trp R633W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 3 - 1 - - SLC12A8 Leu606Val L606V not reviewed Insufficiently evaluated not reviewed unknown Array rs35341788 58 9906 0.00585504 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - SLC12A8 Lys541Arg K541R not reviewed Insufficiently evaluated not reviewed unknown Array rs6773138 1054 10392 0.101424 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SLC12A8 Arg478Ser R478S not reviewed Insufficiently evaluated not reviewed unknown Array rs76714073 72 10032 0.00717703 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - SLC12A8 Ile281Val I281V not reviewed Insufficiently evaluated not reviewed unknown Array rs621383 10217 10230 0.998729 55 0 110 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SLC12A8 Pro266Leu P266L not reviewed Insufficiently evaluated not reviewed unknown Array rs863642 9709 9892 0.9815 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC12A8 Arg181Cys R181C not reviewed Insufficiently evaluated not reviewed unknown Array rs2993631 373 10354 0.0360247 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC13A1 Thr240Met T240M not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 8 - - SLC13A1 Asn174Ser N174S not reviewed Insufficiently evaluated not reviewed unknown Array rs2140516 3286 10758 0.305447 33 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC13A2 Thr230Pro T230P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC13A2 Thr273Pro T273P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 4 Y 1 N - - SLC13A2 Thr322Pro T322P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC13A2 Ile507Val I507V not reviewed Insufficiently evaluated not reviewed unknown Array rs11567842 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC13A2 Ile550Val I550V not reviewed Insufficiently evaluated not reviewed unknown Array rs11567842 53 128 0.414062 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC13A2 Ile599Val I599V not reviewed Insufficiently evaluated not reviewed unknown Array rs11567842 4566 10758 0.424428 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC14A1 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array rs11877062 1365 3234 0.422078 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC14A1 Glu100Lys E100K not reviewed Insufficiently evaluated not reviewed unknown Array rs2298720 1182 10758 0.109872 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC14A1 Glu44Lys E44K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - SLC14A1 Met167Val M167V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - SLC14A1 Met223Val M223V not reviewed Insufficiently evaluated not reviewed unknown Array rs2298719 8 10758 0.000743632 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC14A1 Asp280Asn D280N not reviewed Insufficiently evaluated not reviewed unknown Array rs1058396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - SLC14A1 Asp336Asn D336N not reviewed Insufficiently evaluated not reviewed unknown Array rs1058396 4355 10758 0.404815 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC14A2 Thr33Ser T33S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC14A2 Thr37Ile T37I not reviewed Insufficiently evaluated not reviewed unknown Array rs34461862 337 10758 0.0313255 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 1 - 1 - - SLC14A2 Ile132Val I132V not reviewed Insufficiently evaluated not reviewed unknown Array rs1484873 9965 10758 0.926287 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC14A2 Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9960464 4367 10758 0.40593 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC14A2 Val750Ile V750I not reviewed Insufficiently evaluated not reviewed unknown Array rs1123617 1421 10758 0.132088 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.03 - - -4 - 0 N - - SLC14A2 Ala880Thr A880T not reviewed Insufficiently evaluated not reviewed unknown Array rs3745009 4621 10758 0.429541 34 0 40 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC14A2 Arg896His R896H not reviewed Insufficiently evaluated not reviewed unknown Array rs41301139 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - SLC15A1 Thr451Asn T451N not reviewed Insufficiently evaluated not reviewed unknown Array rs8187838 210 10758 0.0195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 10 - - SLC15A1 Met370Leu M370L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - SLC15A1 Arg251Gln R251Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - SLC15A1 Phe226Leu F226L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SLC15A1 Val122Met V122M not reviewed Insufficiently evaluated not reviewed unknown Array rs8187820 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.551 - - 0 - 1 N - - SLC15A1 Ser117Asn S117N not reviewed Insufficiently evaluated not reviewed unknown Array rs2297322 1896 10758 0.176241 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC15A1 Tyr12Cys Y12C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SLC15A2 Leu319Phe L319F pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2257212 2 0 1 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - SLC15A2 Leu350Phe L350F not reviewed Insufficiently evaluated not reviewed unknown Array rs2257212 5030 10754 0.467733 41 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC15A2 Pro378Ser P378S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1143671 2 0 1 1 1 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - SLC15A2 Pro409Ser P409S not reviewed Insufficiently evaluated not reviewed unknown Array rs1143671 5048 10758 0.469232 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC15A2 Arg478Lys R478K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1143672 2 0 1 1 1 - - - - - - - - - - - - - - - Y - - - -3 - 2 N - - SLC15A2 Arg509Lys R509K not reviewed Insufficiently evaluated not reviewed unknown Array rs1143672 5047 10758 0.469139 41 0 51 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SLC15A3 Pro303Gln P303Q not reviewed Insufficiently evaluated not reviewed unknown Array 286 10758 0.0265849 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - SLC15A3 Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array 408 9512 0.0428932 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SLC15A4 Val239Ala V239A not reviewed Insufficiently evaluated not reviewed unknown Array rs33990080 819 10758 0.0761294 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - SLC15A4 Ala17Pro A17P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC16A1 Asp490Glu D490E not reviewed Insufficiently evaluated not reviewed unknown Array rs1049434 7160 10758 0.665551 55 0 91 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC16A1 Pro13Ser P13S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC16A11 Pro443Thr P443T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10728 0.00577927 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - SLC16A11 Gly340Ser G340S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10400 0.00490385 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SLC16A11 Asp127Gly D127G not reviewed Insufficiently evaluated not reviewed unknown Array rs13342692 1220 10744 0.113552 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SLC16A11 Val113Ile V113I not reviewed Insufficiently evaluated not reviewed unknown Array 63 10700 0.00588785 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - SLC16A11 Ala104Ser A104S not reviewed Insufficiently evaluated not reviewed unknown Array 485 10596 0.045772 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC16A11 Asp71Gly D71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - SLC16A14 Ala184Ser A184S not reviewed Insufficiently evaluated not reviewed unknown Array rs62191755 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC16A14 Asn110Ser N110S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - SLC16A2 Gly25Arg G25R not reviewed Insufficiently evaluated not reviewed unknown Array 54 8155 0.0066217 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - SLC16A2 Ser107Pro S107P not reviewed Insufficiently evaluated not reviewed unknown Array rs6647476 3835 8296 0.462271 8 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 10 - - SLC16A4 Asn264His N264H not reviewed Insufficiently evaluated not reviewed unknown Array rs2271885 446 10758 0.0414575 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SLC16A4 Ala185Thr A185T not reviewed Insufficiently evaluated not reviewed unknown Array rs35157487 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SLC16A6 His481Arg H481R not reviewed Insufficiently evaluated not reviewed unknown Array rs9901177 2205 9306 0.236944 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC16A6 Glu217Asp E217D not reviewed Insufficiently evaluated not reviewed unknown Array rs3744307 1919 10758 0.178379 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC16A6 Phe204Ile F204I not reviewed Insufficiently evaluated not reviewed unknown Array rs7222013 3983 10758 0.370236 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC16A6 Ile121Thr I121T not reviewed Insufficiently evaluated not reviewed unknown Array rs35397826 1213 10758 0.112753 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC16A7 Thr445Ser T445S not reviewed Insufficiently evaluated not reviewed unknown Array rs3763980 2443 10758 0.227087 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC16A8 Val405Ala V405A not reviewed Insufficiently evaluated not reviewed unknown Array rs2076371 8562 10758 0.795873 54 0 94 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC16A8 Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array 676 10664 0.0633908 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC16A8 Arg235Trp R235W not reviewed Insufficiently evaluated not reviewed unknown Array rs4289289 4380 10116 0.432977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 7 Y 0 N - - SLC16A8 Gly30Ser G30S not reviewed Insufficiently evaluated not reviewed unknown Array 6 9838 0.00060988 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SLC16A9 Thr258Lys T258K not reviewed Insufficiently evaluated not reviewed unknown Array rs2242206 2224 10758 0.20673 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - SLC16A9 Ala203Val A203V not reviewed Insufficiently evaluated not reviewed unknown Array rs56370926 416 10758 0.0386689 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - SLC17A1 Thr269Ile T269I not reviewed Insufficiently evaluated not reviewed unknown Array rs1165196 7033 10758 0.653746 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC17A1 Thr239Ala T239A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC17A1 Ser76Asn S76N not reviewed Insufficiently evaluated not reviewed unknown Array rs6933573 349 10758 0.032441 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SLC17A2 Ser370Leu S370L not reviewed Insufficiently evaluated not reviewed unknown Array rs34525648 1331 10758 0.123722 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC17A2 Cys289Phe C289F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - SLC17A3 Gly201Arg G201R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC17A3 Gly279Arg G279R not reviewed Insufficiently evaluated not reviewed unknown Array rs56027330 1000 10758 0.0929541 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC17A3 Gly161Val G161V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC17A3 Gly239Val G239V not reviewed Insufficiently evaluated not reviewed unknown Array rs34902660 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC17A3 Ala100Thr A100T not reviewed Insufficiently evaluated not reviewed unknown Array rs1165165 2743 10758 0.254973 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC17A4 Cys277Gly C277G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - SLC17A4 Ala372Thr A372T not reviewed Insufficiently evaluated not reviewed unknown Array rs11754288 3514 10758 0.326641 24 0 33 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC17A5 Val296Ile V296I not reviewed Insufficiently evaluated not reviewed unknown Array rs16883930 67 10758 0.00622792 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.173 Y Y -4 - 3 - 1 - - SLC17A6 Asn551Ser N551S not reviewed Insufficiently evaluated not reviewed unknown Array rs7117340 83 10758 0.00771519 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SLC17A9 Ser185Thr S185T not reviewed Insufficiently evaluated not reviewed unknown Array rs57995756 118 10016 0.0117811 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - SLC17A9 Asn228Ser N228S not reviewed Insufficiently evaluated not reviewed unknown Array rs2427463 9759 10024 0.973563 31 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC17A9 Thr397Met T397M not reviewed Insufficiently evaluated not reviewed unknown Array rs7271712 471 10208 0.0461403 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 2 - - SLC18A1 Leu360Val L360V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC18A1 Leu392Val L392V not reviewed Insufficiently evaluated not reviewed unknown Array rs17092104 802 10758 0.0745492 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - SLC18A1 Ile168Thr I168T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731076 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - SLC18A1 Ile136Thr I136T not reviewed Insufficiently evaluated not reviewed unknown Array rs1390938 8705 10758 0.809165 55 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC18A1 Ser98Thr S98T not reviewed Insufficiently evaluated not reviewed unknown Array rs2270637 2157 10758 0.200502 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - SLC18A1 Phe84Ser F84S not reviewed Insufficiently evaluated not reviewed unknown Array rs17215801 204 10758 0.0189626 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.472 - - 5 Y 2 - 5 - - SLC18A1 Thr4Pro T4P not reviewed Insufficiently evaluated not reviewed unknown Array rs2270641 3055 10744 0.284345 33 0 37 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SLC18A2 Met175Arg M175R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - SLC18A3 Gly8Cys G8C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC18A3 Ala520Glu A520E not reviewed Insufficiently evaluated not reviewed unknown Array rs8187730 10693 10742 0.995438 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC19A1 Ala469Val A469V not reviewed Insufficiently evaluated not reviewed unknown Array rs7278825 104 10314 0.0100834 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 1 - 3 - - SLC19A1 His27Arg H27R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1051266 5410 10724 0.504476 38 0 52 5 5 - - - - - - - - - - - - - - - Y 0.002 - - 1 - 1 N - - SLC19A3 Val350Ala V350A not reviewed Insufficiently evaluated not reviewed unknown Array rs34507036 1060 10758 0.0985313 8 0 10 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - SLC19A3 Val174Ile V174I not reviewed Insufficiently evaluated not reviewed unknown Array rs59736804 358 10758 0.0332776 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.086 Y - -4 - 1 N - - SLC1A1 Ile127Ser I127S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.601 Y - 5 Y 2 N - - SLC1A2 Leu474Val L474V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SLC1A2 Ser364Arg S364R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SLC1A4 Gly37Arg G37R not reviewed Insufficiently evaluated not reviewed unknown Array 239 6276 0.0380816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 6 Y 1 - 6 - - SLC1A4 Val179Ile V179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC1A4 Val399Ile V399I not reviewed Insufficiently evaluated not reviewed unknown Array rs759458 2489 10758 0.231363 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - SLC1A4 Lys264Glu K264E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A4 Lys484Glu K484E not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A5 Val284Leu V284L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A5 Val310Leu V310L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A5 Val512Leu V512L not reviewed Insufficiently evaluated not reviewed unknown Array rs3027961 2559 10758 0.237869 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC1A5 Phe108Leu F108L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A5 Phe134Leu F134L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC1A5 Phe336Leu F336L not reviewed Insufficiently evaluated not reviewed unknown Array rs73566931 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC1A5 Pro17Ala P17A not reviewed Insufficiently evaluated not reviewed unknown Array 445 7928 0.0561302 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 0 N - - SLC1A7 Gln537Arg Q537R not reviewed Insufficiently evaluated not reviewed unknown Array rs1288401 6055 10758 0.562837 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC20A2 Gly304Ser G304S not reviewed Insufficiently evaluated not reviewed unknown Array rs73675069 605 10758 0.0562372 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - SLC22A1 Leu160Phe L160F not reviewed Insufficiently evaluated not reviewed unknown Array rs683369 9020 10758 0.838446 54 0 98 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC22A1 Pro341Leu P341L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2282143 351 10758 0.0326269 7 0 7 1 1 - - - - - - - - - - - - - - - Y 0.979 - - 7 Y 3 N - - SLC22A1 Met408Val M408V not reviewed Insufficiently evaluated not reviewed unknown Array rs628031 6887 10758 0.640175 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC22A1 Met440Ile M440I not reviewed Insufficiently evaluated not reviewed unknown Array rs35956182 81 10758 0.00752928 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SLC22A1 Val490Ile V490I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A1 Val464Ile V464I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A10 Asp70Gly D70G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 4 Y 2 N - - SLC22A10 Trp96Stop W96X not reviewed Insufficiently evaluated not reviewed unknown Array rs1790218 5094 10758 0.473508 39 0 56 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - SLC22A10 Ser209Tyr S209Y not reviewed Insufficiently evaluated not reviewed unknown Array 78 10076 0.00774117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 5 Y 0 N - - SLC22A10 Pro516Leu P516L not reviewed Insufficiently evaluated not reviewed unknown Array rs1201559 4650 9804 0.474296 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC22A11 Val13Met V13M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A13 Lys390Gln K390Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - SLC22A13 Val423Glu V423E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - SLC22A13 Val424Leu V424L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - SLC22A14 Arg39His R39H not reviewed Insufficiently evaluated not reviewed unknown Array rs34043027 593 10758 0.0551218 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC22A14 Pro108His P108H not reviewed Insufficiently evaluated not reviewed unknown Array rs9847584 156 10758 0.0145008 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - SLC22A14 Lys112Glu K112E not reviewed Insufficiently evaluated not reviewed unknown Array rs2073714 592 10758 0.0550288 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC22A14 Arg210Gly R210G not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC22A14 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array rs818818 9317 10758 0.866053 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC22A14 Ser292Gly S292G not reviewed Insufficiently evaluated not reviewed unknown Array rs818817 9395 10758 0.873304 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC22A14 Val391Ile V391I not reviewed Insufficiently evaluated not reviewed unknown Array rs73064822 1757 10758 0.16332 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC22A14 Ala512Val A512V not reviewed Insufficiently evaluated not reviewed unknown Array rs2070492 961 10758 0.0893289 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC22A14 Pro560Arg P560R not reviewed Insufficiently evaluated not reviewed unknown Array rs240033 3000 10758 0.278862 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC22A15 Phe22Cys F22C not reviewed Insufficiently evaluated not reviewed unknown Array 59 10148 0.00581395 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 0 N - - SLC22A16 Met409Thr M409T not reviewed Insufficiently evaluated not reviewed unknown Array rs12210538 1928 10758 0.179215 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - SLC22A16 Val252Ala V252A not reviewed Insufficiently evaluated not reviewed unknown Array rs723685 1057 10758 0.0982525 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.609 - - 2 - 0 N - - SLC22A16 Glu232Gly E232G not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SLC22A16 His49Arg H49R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs714368 2914 10758 0.270868 34 0 43 1 1 - - - - - - - - - - - - - - - Y - - - 1 - 1 N - - SLC22A17 Met372Val M372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC22A18 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array rs1048046 2229 10756 0.207233 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 0 N - - SLC22A18 Arg12Gln R12Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1048047 5836 10756 0.542581 46 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC22A18 Trp324Cys W324C not reviewed Insufficiently evaluated not reviewed unknown Array rs1129782 1610 10748 0.149795 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC22A18AS Gly89Asp G89D not reviewed Insufficiently evaluated not reviewed unknown Array rs365605 2181 3234 0.674397 50 0 74 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SLC22A2 Lys432Gln K432Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8177517 88 10758 0.00817996 1 0 1 1 1 - - - - - - - - - - - - - - - Y 0.067 - - -2 - 2 N 10 - - SLC22A2 Ser270Ala S270A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs316019 9481 10758 0.881298 56 0 101 2 2 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - SLC22A20 Ala58Asp A58D not reviewed Insufficiently evaluated not reviewed unknown Array 2711 9698 0.279542 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - SLC22A20 Glu80Lys E80K not reviewed Insufficiently evaluated not reviewed unknown Array 3558 9424 0.377547 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 0 - 0 N - - SLC22A20 Ala139Val A139V not reviewed Insufficiently evaluated not reviewed unknown Array 2894 10232 0.282838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 2 - 0 N - - SLC22A20 Met144Ile M144I not reviewed Insufficiently evaluated not reviewed unknown Array rs239259 3400 10176 0.334119 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 1 N - - SLC22A20 Glu301Gln E301Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - -2 - 0 N - - SLC22A20 Thr381Ile T381I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A20 Val505Phe V505F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A24 Ile539Val I539V not reviewed Insufficiently evaluated not reviewed unknown Array rs7945121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A24 Tyr501Stop Y501X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC22A24 Ser339Pro S339P not reviewed Insufficiently evaluated not reviewed unknown Array rs7113279 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A24 Arg172Gly R172G not reviewed Insufficiently evaluated not reviewed unknown Array rs4963245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC22A24 Thr58Ser T58S not reviewed Insufficiently evaluated not reviewed unknown Array rs1939748 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC22A25 Met486Val M486V not reviewed Insufficiently evaluated not reviewed unknown Array rs6591771 5449 10758 0.506507 34 0 48 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SLC22A25 Gly448Ala G448A not reviewed Insufficiently evaluated not reviewed unknown Array rs17157907 208 10758 0.0193344 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SLC22A25 Arg300Thr R300T not reviewed Insufficiently evaluated not reviewed unknown Array rs11231397 3807 10756 0.353942 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 1 N - - SLC22A25 Ser250Gly S250G not reviewed Insufficiently evaluated not reviewed unknown Array rs11231409 3905 10758 0.362986 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC22A25 Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array rs35722529 216 10758 0.0200781 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC22A4 Ile306Thr I306T not reviewed Insufficiently evaluated not reviewed unknown Array rs272893 7079 10758 0.658022 45 0 70 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLC22A4 Leu503Phe L503F pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1050152 3266 10758 0.303588 14 0 16 1 1 - - - - - - - - - - - - - Y - Y - - - 0 - 2 N - - SLC22A5 Leu144Phe L144F not reviewed Insufficiently evaluated not reviewed unknown Array rs10040427 306 10758 0.0284439 5 0 7 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 2 - 6 - - SLC22A6 Arg50His R50H not reviewed Insufficiently evaluated not reviewed unknown Array rs11568626 247 10758 0.0229597 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.686 - - 1 - 1 N - - SLC22A7 Asp223Gly D223G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC22A7 Asp225Gly D225G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.446 - - 4 Y 1 N - - SLC22A7 Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A7 Arg342Gln R342Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - SLC22A8 Arg513Gln R513Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - SLC22A8 Gly418Trp G418W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC22A8 Ile305Phe I305F pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 6 10758 0.000557724 0 0 0 1 1 - - - - - - - - - - - - - - - Y - - - 2 - 3 N 10 - - SLC22A8 Ile190Thr I190T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 2 N - - SLC22A9 Thr247Ser T247S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - -2 - 0 N - - SLC22A9 Gln332Lys Q332K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - SLC22A9 Gln332Pro Q332P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 2 N - - SLC22A9 Tyr403His Y403H not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - SLC23A1 Ser421Ala S421A not reviewed Insufficiently evaluated not reviewed unknown Array rs6596474 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC23A1 Ser425Ala S425A not reviewed Insufficiently evaluated not reviewed unknown Array rs6596474 10710 10724 0.998695 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC23A1 Val264Met V264M not reviewed Insufficiently evaluated not reviewed unknown Array rs33972313 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - SLC23A1 Val268Met V268M not reviewed Insufficiently evaluated not reviewed unknown Array rs33972313 481 10758 0.0447109 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC23A1 Met258Val M258V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC23A1 Met262Val M262V not reviewed Insufficiently evaluated not reviewed unknown Array rs35817838 272 10758 0.0252835 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - SLC23A3 Met104Ile M104I not reviewed Insufficiently evaluated not reviewed unknown Array 236 9902 0.0238336 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - SLC24A1 Thr37Ser T37S not reviewed Insufficiently evaluated not reviewed unknown Array rs3743171 1571 9812 0.16011 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC24A1 Leu313Val L313V not reviewed Insufficiently evaluated not reviewed unknown Array rs35571449 650 9938 0.0654055 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - SLC24A1 Ala488Val A488V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC24A1 Gly632Arg G632R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC24A1 Val922Ala V922A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC24A2 Arg401Trp R401W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 3 - 1 - - SLC24A3 Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array rs1569767 4296 10758 0.399331 40 0 51 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SLC24A3 Val168Ile V168I not reviewed Insufficiently evaluated not reviewed unknown Array rs3790267 333 10758 0.0309537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 1 - 3 - - SLC24A3 Trp211Leu W211L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - SLC24A4 Lys488Gln K488Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC24A4 Lys516Gln K516Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC24A4 Lys535Gln K535Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45587635 448 10758 0.0416434 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.825 - - -2 - 1 N - - SLC24A5 Thr111Ala T111A not reviewed Insufficiently evaluated not reviewed unknown Array rs1426654 2902 10758 0.269753 34 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC24A6 Arg222Cys R222C not reviewed Insufficiently evaluated not reviewed unknown Array rs16942745 450 10758 0.0418293 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - SLC25A1 Lys255Arg K255R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - SLC25A12 Arg473Gln R473Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35565687 351 10758 0.0326269 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC25A15 Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.522 Y - 0 - 2 N - - SLC25A15 Ile254Leu I254L not reviewed Insufficiently evaluated not reviewed unknown Array rs17849654 3667 10758 0.340863 28 0 38 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 4 - - SLC25A18 Val26Met V26M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - SLC25A2 Val226Ile V226I not reviewed Insufficiently evaluated not reviewed unknown Array rs3749780 1916 10758 0.1781 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC25A2 Gly159Cys G159C not reviewed Insufficiently evaluated not reviewed unknown Array rs10075302 526 10758 0.0488938 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC25A21 Trp299Cys W299C not reviewed Insufficiently evaluated not reviewed unknown Array rs17104991 316 10758 0.0293735 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC25A21 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - SLC25A22 Leu150Val L150V not reviewed Insufficiently evaluated not reviewed unknown Array 594 10334 0.0574802 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC25A26 Thr145Met T145M not reviewed Insufficiently evaluated not reviewed unknown Array rs13874 84 128 0.65625 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC25A27 Ile197Thr I197T not reviewed Insufficiently evaluated not reviewed unknown Array rs35884480 448 9606 0.0466375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLC25A29 Gly88Val G88V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - 8 Y 1 N - - SLC25A3 Leu179Arg L179R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - SLC25A3 Leu180Arg L180R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 6 Y 3 N - - SLC25A3 Lys356Gln K356Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.868 Y - -2 - 3 N - - SLC25A3 Lys357Gln K357Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.868 Y - -2 - 3 N - - SLC25A31 Lys9Arg K9R not reviewed Insufficiently evaluated not reviewed unknown Array rs35968387 304 10758 0.028258 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLC25A33 Leu242Ile L242I not reviewed Insufficiently evaluated not reviewed unknown Array rs35819756 294 10756 0.0273336 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC25A34 Ile215Met I215M not reviewed Insufficiently evaluated not reviewed unknown Array rs62621224 202 10758 0.0187767 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC25A36 His66Asn H66N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 1 N - - SLC25A37 Ile87Val I87V not reviewed Insufficiently evaluated not reviewed unknown Array rs2942194 2020 9672 0.20885 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC25A37 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3736032 1083 9706 0.11158 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - SLC25A39 Phe239Leu F239L not reviewed Insufficiently evaluated not reviewed unknown Array rs2011951 74 128 0.578125 43 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC25A39 Phe247Leu F247L not reviewed Insufficiently evaluated not reviewed unknown Array rs2011951 5454 10758 0.506972 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC25A4 Ala150Pro A150P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC25A40 Met277Val M277V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740453 15 10548 0.00142207 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC25A41 Gly144Ser G144S not reviewed Insufficiently evaluated not reviewed unknown Array rs34488963 638 10216 0.0624511 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - SLC25A43 Pro334Leu P334L not reviewed Insufficiently evaluated not reviewed unknown Array rs3810755 5122 8760 0.584703 38 0 62 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC25A45 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC25A45 Arg285Cys R285C not reviewed Insufficiently evaluated not reviewed unknown Array rs34400381 253 10162 0.0248967 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - SLC25A45 Met182Val M182V not reviewed Insufficiently evaluated not reviewed unknown Array rs624307 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC25A45 Met224Val M224V not reviewed Insufficiently evaluated not reviewed unknown Array rs624307 10274 10552 0.973654 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC25A45 Met100Thr M100T not reviewed Insufficiently evaluated not reviewed unknown Array 354 10154 0.0348631 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A45 Met58Thr M58T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A45 Val40Ile V40I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10250 0.00273171 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC25A46 Glu79Lys E79K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10612 0.00131926 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.421 - - 0 - 1 N - - SLC25A46 Ser93Asn S93N not reviewed Insufficiently evaluated not reviewed unknown Array rs73230112 13 10480 0.00124046 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SLC25A5 Leu111Arg L111R not reviewed Insufficiently evaluated not reviewed unknown Array rs371749 7068 8761 0.806757 52 0 99 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC25A5 Glu293Stop E293X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC26A1 Gln556Arg Q556R not reviewed Insufficiently evaluated not reviewed unknown Array rs3796622 6988 10732 0.651137 32 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC26A1 Arg372His R372H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10492 0.00638582 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SLC26A10 Leu24Val L24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - SLC26A10 Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array rs73347910 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SLC26A10 Ala193Thr A193T not reviewed Insufficiently evaluated not reviewed unknown Array rs923828 3758 10740 0.349907 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.865 - - 1 - 1 N - - SLC26A10 Leu546Val L546V not reviewed Insufficiently evaluated not reviewed unknown Array rs774895 10305 10758 0.957892 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC26A11 Ala293Gly A293G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC26A11 Arg335Cys R335C not reviewed Insufficiently evaluated not reviewed unknown Array rs61732344 312 10758 0.0290017 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC26A2 Arg492Trp R492W pathogenic Insufficiently evaluated pathogenic recessive Array 163 10758 0.0151515 1 0 1 2 2 3 Y ! Y 0 Y 0 Y 5 Y 1 Y Y - - - - Y Y 7 Y 4 - 3 - - This variant was found in "numerous" autosomal recessive diastrophic dysplasia patients, but later evidence point to it likely being a benign polymorphism. SLC26A2 Met504Ile M504I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SLC26A2 Ser506Asn S506N not reviewed Insufficiently evaluated not reviewed unknown Array rs57814887 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC26A2 Ile574Thr I574T not reviewed Insufficiently evaluated not reviewed unknown Array rs30832 10681 10756 0.993027 56 0 112 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - SLC26A2 Thr689Ser T689S not reviewed Insufficiently evaluated not reviewed unknown Array rs3776070 2117 10758 0.196784 15 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 3 - - SLC26A2 Asn696Ser N696S not reviewed Insufficiently evaluated not reviewed unknown Array rs34351171 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC26A3 Asn753Ser N753S not reviewed Insufficiently evaluated not reviewed unknown Array rs35342296 104 10756 0.00966902 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.07 Y - 0 - 1 N - - SLC26A3 Arg554Gln R554Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 2 - 1 - - SLC26A3 Thr510Met T510M not reviewed Insufficiently evaluated not reviewed unknown Array rs60147601 86 10758 0.00799405 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - SLC26A3 Asp320Gly D320G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - SLC26A3 Cys307Trp C307W not reviewed Insufficiently evaluated not reviewed unknown Array rs34407351 354 10758 0.0329057 3 0 2 0 0 - Y - - - - - - - - - - Y - - - 0.924 Y - 7 Y 4 - 5 - - SLC26A3 Glu172Lys E172K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC26A4 Asn324Tyr N324Y not reviewed Insufficiently evaluated not reviewed unknown Array rs36039758 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 5 - 4 - - SLC26A4 Val454Leu V454L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 0 - 4 N - - SLC26A5 Ser242Pro S242P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - SLC26A6 Asp616Asn D616N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC26A6 Asp618Asn D618N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC26A6 Asp636Asn D636N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC26A6 Asp637Asn D637N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC26A6 Val185Met V185M not reviewed Insufficiently evaluated not reviewed unknown Array rs13324142 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC26A6 Val206Met V206M not reviewed Insufficiently evaluated not reviewed unknown Array rs13324142 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC26A7 Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array rs16912250 338 10756 0.0314243 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - SLC26A7 Leu349Phe L349F not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - SLC26A8 Ile534Val I534V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC26A8 Ile639Val I639V not reviewed Insufficiently evaluated not reviewed unknown Array rs2295852 4834 10758 0.44934 40 0 56 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - SLC26A8 Val473Ala V473A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A8 Val578Ala V578A not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.94 - - 2 - 2 N - - SLC26A8 Ser230Asn S230N not reviewed Insufficiently evaluated not reviewed unknown Array rs17707331 1111 10758 0.103272 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.069 - - 0 - 0 N - - SLC26A8 Ile148Val I148V not reviewed Insufficiently evaluated not reviewed unknown Array rs17713154 1293 10758 0.12019 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.044 - - -4 - 0 N - - SLC26A8 Val73Met V73M not reviewed Insufficiently evaluated not reviewed unknown Array rs743923 3263 10758 0.303309 33 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC26A9 Val882Ala V882A not reviewed Insufficiently evaluated not reviewed unknown Array rs16856448 208 10758 0.0193344 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A9 Arg804Gly R804G not reviewed Insufficiently evaluated not reviewed unknown Array rs6669481 2189 10758 0.203476 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC26A9 His416Arg H416R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC26A9 His748Arg H748R not reviewed Insufficiently evaluated not reviewed unknown Array rs16856462 1219 10758 0.113311 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC26A9 Val412Met V412M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLC26A9 Val744Met V744M not reviewed Insufficiently evaluated not reviewed unknown Array rs3811428 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLC26A9 Pro274Leu P274L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC26A9 Pro606Leu P606L not reviewed Insufficiently evaluated not reviewed unknown Array 217 10758 0.020171 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC27A1 Glu191Lys E191K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - SLC27A2 Lys48Gln K48Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1648348 6230 10736 0.580291 12 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC27A3 Gly110Ala G110A not reviewed Insufficiently evaluated not reviewed unknown Array 179 9742 0.0183741 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 1 - 3 - - SLC27A3 Ala722Thr A722T not reviewed Insufficiently evaluated not reviewed unknown Array rs35517522 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - SLC27A4 Gly209Ser G209S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240953 908 10758 0.0844023 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC27A4 Asn351Ser N351S not reviewed Insufficiently evaluated not reviewed unknown Array 291 10758 0.0270496 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC27A4 Arg527His R527H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - SLC27A5 Ala214Val A214V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10454 0.00593074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC27A5 Arg53Trp R53W not reviewed Insufficiently evaluated not reviewed unknown Array rs34415062 1786 10522 0.16974 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC27A5 Met50Thr M50T not reviewed Insufficiently evaluated not reviewed unknown Array rs35350976 1806 10578 0.170732 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.133 - - 2 - 0 N - - SLC27A6 Leu19Val L19V not reviewed Insufficiently evaluated not reviewed unknown Array rs2526247 3458 10758 0.321435 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC27A6 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 3 - 1 - - SLC28A1 Ser43Asn S43N not reviewed Insufficiently evaluated not reviewed unknown Array rs17222295 66 10546 0.0062583 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - SLC28A1 Val189Ile V189I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2290272 3263 10758 0.303309 25 0 28 1 1 - - - - - - - - - - - - - - - Y - - - -4 - 1 N - - SLC28A1 Gln237Lys Q237K not reviewed Insufficiently evaluated not reviewed unknown Array rs8187758 2195 10758 0.204034 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC28A1 Arg510Cys R510C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2242047 444 10758 0.0412716 5 0 7 1 1 - - - - - - - - - - - - - - - Y - - - 8 Y 2 N - - SLC28A1 Asp521Asn D521N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2242046 3869 10758 0.359639 27 0 32 1 1 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - SLC28A2 Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array rs61637002 5095 10756 0.473689 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC28A2 Ser75Arg S75R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1060896 5351 10758 0.497397 23 0 32 1 1 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - SLC28A2 Leu163Trp L163W not reviewed Insufficiently evaluated not reviewed unknown Array rs2271437 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 8 - - SLC28A2 Ser245Thr S245T not reviewed Insufficiently evaluated not reviewed unknown Array rs10519020 781 10758 0.0725971 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC28A3 Tyr513Phe Y513F not reviewed Insufficiently evaluated not reviewed unknown Array rs56350726 945 10758 0.0878416 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.504 - - -4 - 0 N - - SLC28A3 Ile328Val I328V not reviewed Insufficiently evaluated not reviewed unknown Array rs11568418 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 6 - - SLC28A3 Tyr113Cys Y113C not reviewed Insufficiently evaluated not reviewed unknown Array rs10868138 1190 10758 0.110615 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - SLC29A3 Arg18Gly R18G not reviewed Insufficiently evaluated not reviewed unknown Array rs2277257 5255 10758 0.488474 41 0 60 0 0 4 Y - - - - - - - - - - Y - - - - Y - 6 Y 2 - 2 - - SLC29A3 Ser158Phe S158F not reviewed Insufficiently evaluated not reviewed unknown Array rs780668 6645 10758 0.61768 41 0 59 0 0 5 Y - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - SLC29A3 Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array rs34040486 9299 10758 0.86438 54 0 56 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - SLC29A3 Ile326Val I326V not reviewed Insufficiently evaluated not reviewed unknown Array rs2487068 9606 10758 0.892917 55 0 97 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - SLC29A4 Met24Leu M24L not reviewed Insufficiently evaluated not reviewed unknown Array rs73332823 208 10756 0.019338 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.926 - - -3 - 2 N - - SLC2A1 Gln304His Q304H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y -1 - 2 N - - SLC2A10 Ala106Ser A106S not reviewed Insufficiently evaluated not reviewed unknown Array rs6094438 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SLC2A10 Pro200Arg P200R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.064 Y - 5 Y 1 N - - SLC2A10 Ala206Thr A206T not reviewed Insufficiently evaluated not reviewed unknown Array rs2235491 1291 10758 0.120004 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 1 - - SLC2A10 Thr518Ala T518A not reviewed Insufficiently evaluated not reviewed unknown Array rs6018008 299 10758 0.0277933 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 2 - - SLC2A11 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC2A11 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9608213 2623 9236 0.283997 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC2A11 Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Arg301Gln R301Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36015336 124 10758 0.0115263 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Arg308Gln R308Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Ile420Phe I420F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SLC2A11 Ile423Phe I423F not reviewed Insufficiently evaluated not reviewed unknown Array rs34096096 176 10758 0.0163599 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SLC2A11 Ile427Phe I427F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SLC2A11 Ala449Thr A449T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC2A11 Ala452Thr A452T not reviewed Insufficiently evaluated not reviewed unknown Array rs60699980 387 10758 0.0359732 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC2A11 Ala456Thr A456T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC2A11 Lys469Glu K469E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SLC2A11 Lys472Glu K472E not reviewed Insufficiently evaluated not reviewed unknown Array rs60882514 284 10758 0.026399 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SLC2A11 Lys476Glu K476E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SLC2A14 Gly506Glu G506E not reviewed Insufficiently evaluated not reviewed unknown Array rs10845981 2391 10758 0.222253 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 1 - - SLC2A14 Tyr449His Y449H not reviewed Insufficiently evaluated not reviewed unknown Array rs74058901 151 10756 0.0140387 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC2A2 Arg432His R432H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - SLC2A2 Ile154Leu I154L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.767 Y - -2 - 2 N - - SLC2A2 Thr110Ile T110I not reviewed Insufficiently evaluated not reviewed unknown Array rs5400 2584 10758 0.240193 24 0 28 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 9 - - SLC2A3 Asp244Glu D244E not reviewed Insufficiently evaluated not reviewed unknown Array rs59397047 314 10754 0.0291984 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC2A4RG Glu233Asp E233D not reviewed Insufficiently evaluated not reviewed unknown Array rs8957 8541 10746 0.794807 33 0 57 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - SLC2A5 Ser273Leu S273L not reviewed Insufficiently evaluated not reviewed unknown Array 94 10754 0.00874093 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.735 - - 6 Y 1 N - - SLC2A5 Tyr32Stop Y32X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC2A6 Thr438Met T438M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC2A6 Thr500Met T500M not reviewed Insufficiently evaluated not reviewed unknown Array rs3094378 711 10758 0.0660904 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.269 - - 2 - 0 N - - SLC2A6 Val242Phe V242F not reviewed Insufficiently evaluated not reviewed unknown Array rs28477580 6 10752 0.000558035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - SLC2A7 His349Pro H349P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC2A7 Arg261Gln R261Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12402973 805 10742 0.0749395 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SLC2A7 Val135Ile V135I not reviewed Insufficiently evaluated not reviewed unknown Array rs34545462 222 10758 0.0206358 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC2A7 Ala65Glu A65E not reviewed Insufficiently evaluated not reviewed unknown Array rs61744620 281 10758 0.0261201 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC2A8 Ile253Thr I253T not reviewed Insufficiently evaluated not reviewed unknown Array rs34064803 837 10758 0.0778026 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.124 - - 3 - 0 N - - SLC2A8 Val408Met V408M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SLC2A9 Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC2A9 Pro350Leu P350L not reviewed Insufficiently evaluated not reviewed unknown Array rs2280205 4067 10758 0.378044 20 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC2A9 Arg265His R265H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC2A9 Arg294His R294H not reviewed Insufficiently evaluated not reviewed unknown Array rs3733591 1608 10758 0.14947 15 0 20 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - SLC2A9 Val253Ile V253I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 2 0 2 0 0 2 Y - - - - - - - - - - - - Y Y - - - -4 - 3 N - - SLC2A9 Val282Ile V282I not reviewed Insufficiently evaluated not reviewed unknown Array rs16890979 3089 10758 0.287135 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.138 - - -4 - 0 N - - SLC2A9 Thr246Met T246M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC2A9 Thr275Met T275M not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.893 - - 2 - 2 N - - SLC2A9 Gly25Arg G25R not reviewed Insufficiently evaluated not reviewed unknown Array rs2276961 4619 10758 0.429355 31 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC2A9 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC30A3 Tyr357Cys Y357C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC30A5 Glu671Stop E671X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC30A8 Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array rs73317647 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC30A8 Arg325Trp R325W pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13266634 2446 10758 0.227366 17 0 18 2 2 - - - - - - - - - - - - - Y Y Y - - - 7 Y 2 N - - SLC30A9 Met50Val M50V not reviewed Insufficiently evaluated not reviewed unknown Array rs1047626 6172 10758 0.573713 37 0 60 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SLC30A9 Thr97Ala T97A not reviewed Insufficiently evaluated not reviewed unknown Array rs2581423 10490 10738 0.976904 43 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC30A9 Leu353Ser L353S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801962 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 6 Y 2 - 3 - - SLC31A1 Pro25Ala P25A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233915 289 10758 0.0268637 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 3 - 7 - - SLC33A1 Gly509Ser G509S not reviewed Insufficiently evaluated not reviewed unknown Array rs76440173 25 10754 0.00232472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.582 - - 2 - 1 N - - SLC33A1 Asp171Gly D171G not reviewed Insufficiently evaluated not reviewed unknown Array rs3804769 712 10758 0.0661833 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SLC34A2 Val45Ala V45A not reviewed Insufficiently evaluated not reviewed unknown Array rs35426730 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 3 - - SLC34A2 Thr330Met T330M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 3 - - SLC34A2 Asp634Gly D634G not reviewed Insufficiently evaluated not reviewed unknown Array rs6448389 9450 10758 0.878416 52 0 96 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SLC34A3 Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array rs34372115 689 10708 0.0643444 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 3 - - SLC34A3 Gly337Ser G337S not reviewed Insufficiently evaluated not reviewed unknown Array rs35699762 77 10720 0.00718284 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - - Y - 2 - 3 - 3 - - SLC34A3 Glu513Val E513V not reviewed Insufficiently evaluated not reviewed unknown Array rs28542318 9301 10448 0.890218 49 0 93 0 0 2 Y - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - SLC35A3 Val8Ile V8I not reviewed Insufficiently evaluated not reviewed unknown Array rs74102304 437 10756 0.0406285 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC35A4 Arg45Gln R45Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745336 434 10758 0.0403421 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLC35A4 His136Pro H136P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - SLC35B1 Arg81His R81H not reviewed Insufficiently evaluated not reviewed unknown Array rs1135034 914 10758 0.08496 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SLC35B2 Leu342Val L342V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - SLC35B3 Gly283Asp G283D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 4 Y 0 N - - SLC35B3 Asn19Ser N19S not reviewed Insufficiently evaluated not reviewed unknown Array rs34956976 116 10758 0.0107827 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC35C1 Phe104Leu F104L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - SLC35C1 Phe91Leu F91L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - SLC35C1 Ile227Val I227V not reviewed Insufficiently evaluated not reviewed unknown Array rs7130656 1541 10758 0.143242 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - SLC35C1 Ile240Val I240V not reviewed Insufficiently evaluated not reviewed unknown Array rs7130656 20 128 0.15625 15 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - SLC35D1 Ala82Thr A82T not reviewed Insufficiently evaluated not reviewed unknown Array rs10157422 1337 10758 0.12428 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SLC35D2 Val102Phe V102F not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC35D3 Ala148Val A148V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - 2 - 2 N - - SLC35E1 Ile156Ser I156S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - SLC35E2 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC35E2 Arg204Trp R204W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC35E2 Arg36Stop R36X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC35F2 Ile43Val I43V not reviewed Insufficiently evaluated not reviewed unknown Array 274 9810 0.0279307 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - SLC35F3 Arg79Pro R79P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC35F3 Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC35F3 Ile284Leu I284L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC36A1 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array rs35204299 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.109 - - 8 Y 0 N - - SLC36A2 Ala445Val A445V not reviewed Insufficiently evaluated not reviewed unknown Array rs10042608 854 10758 0.0793828 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC36A2 Thr416Asn T416N not reviewed Insufficiently evaluated not reviewed unknown Array rs61572410 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SLC36A2 Arg376Cys R376C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - SLC36A2 His144Tyr H144Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - SLC36A3 Leu413Ile L413I not reviewed Insufficiently evaluated not reviewed unknown Array rs59596499 932 10758 0.0866332 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - SLC36A3 Leu454Ile L454I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SLC36A3 Pro185Ser P185S not reviewed Insufficiently evaluated not reviewed unknown Array rs12520516 844 10758 0.0784532 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - SLC36A3 Pro226Ser P226S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC36A3 Lys167Glu K167E not reviewed Insufficiently evaluated not reviewed unknown Array rs978012 5319 10758 0.494423 46 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC36A3 Lys208Glu K208E not reviewed Insufficiently evaluated not reviewed unknown Array rs978012 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC36A3 Gly83Glu G83E not reviewed Insufficiently evaluated not reviewed unknown Array rs72794183 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - SLC36A4 Asp344Tyr D344Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 7 Y 0 N - - SLC37A1 Leu37Stop L37X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC37A1 Val414Ile V414I not reviewed Insufficiently evaluated not reviewed unknown Array rs228104 9930 10758 0.923034 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC37A1 Thr442Pro T442P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SLC37A2 Ile96Val I96V not reviewed Insufficiently evaluated not reviewed unknown Array rs55752830 4266 10758 0.396542 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC37A2 Val220Ile V220I not reviewed Insufficiently evaluated not reviewed unknown Array rs34649502 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - SLC37A2 Ile454Leu I454L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - SLC37A3 Val65Leu V65L not reviewed Insufficiently evaluated not reviewed unknown Array rs62490396 4184 10758 0.38892 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC37A4 Gln426Stop Q426X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - SLC37A4 Gly409Ser G409S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SLC37A4 Trp176Leu W176L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SLC38A1 Glu33Lys E33K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - SLC38A10 Ala831Gly A831G not reviewed Insufficiently evaluated not reviewed unknown Array rs2725405 3167 9560 0.331276 30 0 41 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - SLC38A10 Arg801His R801H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9560 0.000104602 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - SLC38A10 Ala756Pro A756P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 2 - 0 N - - SLC38A10 Glu676Asp E676D not reviewed Insufficiently evaluated not reviewed unknown Array rs55872261 432 10522 0.0410568 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - SLC38A10 Lys559Arg K559R not reviewed Insufficiently evaluated not reviewed unknown Array rs35546507 469 10758 0.0435955 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -3 - 1 N - - SLC38A10 Val423Met V423M not reviewed Insufficiently evaluated not reviewed unknown Array 95 10732 0.00885203 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.113 - - 0 - 0 N - - SLC38A10 Arg196Cys R196C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SLC38A11 Lys173Met K173M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC38A11 Ser159Thr S159T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC38A4 Thr366Met T366M not reviewed Insufficiently evaluated not reviewed unknown Array rs11183610 916 10756 0.0851618 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SLC38A4 Gly29Arg G29R not reviewed Insufficiently evaluated not reviewed unknown Array rs2429467 497 10758 0.0461982 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SLC38A5 Met451Thr M451T not reviewed Insufficiently evaluated not reviewed unknown Array rs17281188 528 8746 0.0603705 5 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 - 3 - - SLC38A6 Leu70Met L70M not reviewed Insufficiently evaluated not reviewed unknown Array rs976272 10180 10758 0.946273 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SLC38A7 Thr78Ile T78I not reviewed Insufficiently evaluated not reviewed unknown Array rs7191331 1838 10758 0.17085 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC38A7 Leu46Pro L46P not reviewed Insufficiently evaluated not reviewed unknown Array rs7193572 1537 10758 0.14287 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC38A8 Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 6 Y 1 N - - SLC38A8 Ser248Cys S248C not reviewed Insufficiently evaluated not reviewed unknown Array rs11861325 384 10758 0.0356944 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.62 - - 3 - 1 N - - SLC38A8 Ser237Phe S237F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 5 Y 2 N - - SLC38A8 Ser220Thr S220T not reviewed Insufficiently evaluated not reviewed unknown Array rs11862366 662 10758 0.0615356 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.093 - - -2 - 1 - 2 - - SLC38A8 Ala147Gly A147G not reviewed Insufficiently evaluated not reviewed unknown Array rs56802364 391 10756 0.0363518 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - SLC38A8 Thr5Ile T5I not reviewed Insufficiently evaluated not reviewed unknown Array rs73254348 30 10758 0.00278862 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - SLC38A9 Ser182Thr S182T not reviewed Insufficiently evaluated not reviewed unknown Array rs4865615 6351 10758 0.590351 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC39A1 Glu28Lys E28K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.194 - - 0 - 0 N - - SLC39A10 Ile321Val I321V not reviewed Insufficiently evaluated not reviewed unknown Array rs59136740 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC39A10 His609Tyr H609Y not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.587 - - -1 - 1 N - - SLC39A11 Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736066 13 128 0.101562 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC39A11 Ala287Val A287V not reviewed Insufficiently evaluated not reviewed unknown Array 846 10758 0.0786391 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 0 N - - SLC39A11 Thr111Ala T111A not reviewed Insufficiently evaluated not reviewed unknown Array rs2466517 9600 10758 0.892359 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC39A12 Ser36Gly S36G not reviewed Insufficiently evaluated not reviewed unknown Array rs10764176 3236 10758 0.300799 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC39A12 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array rs62619938 523 10758 0.048615 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 1 N - - SLC39A12 Val304Ile V304I not reviewed Insufficiently evaluated not reviewed unknown Array rs2478568 6787 10758 0.630879 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC39A12 Gln342Arg Q342R not reviewed Insufficiently evaluated not reviewed unknown Array rs72778328 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 1 - - SLC39A12 Phe435Leu F435L not reviewed Insufficiently evaluated not reviewed unknown Array rs11011935 748 10758 0.0695297 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SLC39A13 Thr20Ala T20A not reviewed Insufficiently evaluated not reviewed unknown Array rs61897432 1293 10722 0.120593 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - SLC39A13 Glu28Gly E28G not reviewed Insufficiently evaluated not reviewed unknown Array rs2010519 10125 10738 0.942913 45 0 86 0 0 2 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - SLC39A14 Leu33Pro L33P not reviewed Insufficiently evaluated not reviewed unknown Array rs896378 6033 10758 0.560792 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC39A2 Leu43Arg L43R not reviewed Insufficiently evaluated not reviewed unknown Array rs2234632 8136 10758 0.756274 47 0 80 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC39A2 Leu43Gln L43Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - SLC39A2 Met80Val M80V not reviewed Insufficiently evaluated not reviewed unknown Array rs2234634 206 10758 0.0191485 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SLC39A2 Phe115Leu F115L not reviewed Insufficiently evaluated not reviewed unknown Array rs2234636 3135 10758 0.291411 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC39A2 His154Tyr H154Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2234637 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - SLC39A3 Val168Met V168M not reviewed Insufficiently evaluated not reviewed unknown Array 33 10370 0.00318226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC39A4 Thr356Ala T356A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A4 Thr381Ala T381A not reviewed Insufficiently evaluated not reviewed unknown Array 490 10738 0.0456323 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A4 Leu347Val L347V not reviewed Insufficiently evaluated not reviewed unknown Array rs1871534 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC39A4 Leu372Val L372V not reviewed Insufficiently evaluated not reviewed unknown Array rs1871534 2904 10726 0.270744 21 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC39A4 Thr332Ala T332A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A4 Thr357Ala T357A not reviewed Insufficiently evaluated not reviewed unknown Array rs2272662 4547 10712 0.424477 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC39A4 Trp226Arg W226R not reviewed Insufficiently evaluated not reviewed unknown Array rs2977838 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC39A4 Trp251Arg W251R not reviewed Insufficiently evaluated not reviewed unknown Array rs2977838 10404 10756 0.967274 42 0 83 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC39A4 Ala114Thr A114T not reviewed Insufficiently evaluated not reviewed unknown Array rs17855765 4610 10648 0.432945 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC39A4 Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A4 Glu10Ala E10A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC39A4 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array rs2280838 5596 10702 0.522893 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC39A5 Ser374Thr S374T not reviewed Insufficiently evaluated not reviewed unknown Array rs74812296 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC39A5 Gly456Ala G456A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A6 Glu119Asp E119D not reviewed Insufficiently evaluated not reviewed unknown Array rs1789528 10073 10486 0.960614 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC39A7 Asp87Asn D87N not reviewed Insufficiently evaluated not reviewed unknown Array rs34211188 260 10370 0.0250723 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - SLC39A8 Leu382Phe L382F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC39A8 Leu449Phe L449F not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.083 - - 0 - 0 N - - SLC39A8 Ala324Thr A324T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.593 - - 1 - 1 N - - SLC39A8 Ala391Thr A391T not reviewed Insufficiently evaluated not reviewed unknown Array rs13107325 627 10758 0.0582822 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - SLC39A9 Met221Thr M221T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232059 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.122 - - 2 - 0 N - - SLC3A1 Met467Thr M467T pathogenic Moderate clinical importance, pathogenic recessive Array 23 10758 0.00213794 0 0 0 3 3 2 Y 1 Y 4 Y 2 Y 2 Y 3 Y Y Y - - 0.977 Y - 2 - Cystinuria 5 16 0 63 INF 5 N 9 1 2 Causes cystinuria in a recessive manner, which can lead to kidney stones when symptomatic. This variant is one of the most common cystinuria-causing variants, and may be somewhat milder than other causal variants. SLC3A1 Met618Ile M618I not reviewed Insufficiently evaluated not reviewed unknown Array rs698761 5828 10758 0.541736 32 0 41 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -1 - 2 - 1 - - SLC3A2 Val229Ala V229A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC3A2 Val268Ala V268A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC3A2 Val299Ala V299A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC3A2 Val330Ala V330A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - 2 - 2 N - - SLC3A2 Val331Ala V331A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC3A2 Val361Ala V361A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC40A1 Arg40Trp R40W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - SLC41A2 His480Asn H480N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - SLC41A3 Val71Met V71M not reviewed Insufficiently evaluated not reviewed unknown Array rs11543283 361 10758 0.0335564 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - SLC41A3 Thr62Ala T62A not reviewed Insufficiently evaluated not reviewed unknown Array rs4234270 10658 10758 0.990705 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC43A2 Ala378Thr A378T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC43A3 Ala359Val A359V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC44A1 Ala602Gly A602G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 1 - 1 N - - SLC44A1 Ser644Ala S644A not reviewed Insufficiently evaluated not reviewed unknown Array rs3199966 2124 10742 0.197729 14 0 22 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SLC44A2 Gln152Arg Q152R not reviewed Insufficiently evaluated not reviewed unknown Array rs2288904 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC44A2 Gln154Arg Q154R not reviewed Insufficiently evaluated not reviewed unknown Array rs2288904 8992 10758 0.835843 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC44A2 Ala460Val A460V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC44A2 Ala462Val A462V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC44A2 Val591Gly V591G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC44A2 Val593Gly V593G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC44A3 Val390Ile V390I not reviewed Insufficiently evaluated not reviewed unknown Array rs859098 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC44A3 Val438Ile V438I not reviewed Insufficiently evaluated not reviewed unknown Array rs859098 7313 10758 0.679773 53 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC44A4 Met326Val M326V not reviewed Insufficiently evaluated not reviewed unknown Array rs644827 4512 7518 0.60016 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC44A4 Val187Ile V187I not reviewed Insufficiently evaluated not reviewed unknown Array rs2242665 6366 10758 0.591746 44 0 69 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC44A4 Asp123Val D123V not reviewed Insufficiently evaluated not reviewed unknown Array rs12661281 1173 10758 0.109035 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SLC44A4 Arg6Leu R6L not reviewed Insufficiently evaluated not reviewed unknown Array rs2075798 779 10758 0.0724112 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC44A5 Val699Ile V699I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC44A5 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.908 - - 2 - 2 N - - SLC45A1 Ala503Ser A503S not reviewed Insufficiently evaluated not reviewed unknown Array rs7535752 1765 10758 0.164064 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC45A2 Leu374Phe L374F benign Low clinical importance, Uncertain benign unknown Array rs16891982 7442 10758 0.691764 51 0 94 4 4 - - - - 5 - - - 0 - 0 - Y - Y Y 0.947 Y Y 0 - Skin pigmentation 2253 117 303 63 4.004 5 N 9 0 0 Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma. SLC45A2 Glu272Lys E272K benign Low clinical importance, Likely benign unknown Array rs26722 313 10758 0.0290946 14 0 19 1 1 - - - - 5 - - - 0 - 0 - Y Y - - 0.025 Y Y 0 - 4 N 8 0 1 Pigmentation allele for black hair in Caucasian population. SLC45A4 Asn667Asp N667D not reviewed Insufficiently evaluated not reviewed unknown Array rs3739238 7043 10758 0.654676 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC45A4 Pro226Leu P226L not reviewed Insufficiently evaluated not reviewed unknown Array rs753778 3464 10756 0.322053 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC46A1 Pro373Ala P373A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - SLC46A2 Pro236Arg P236R not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC46A3 Ser13Asn S13N not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC47A1 Leu125Phe L125F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 3 - 6 - - SLC47A1 Trp131Stop W131X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC47A1 Thr159Met T159M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SLC47A1 Val338Ile V338I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs35790011 221 10758 0.0205429 7 0 7 1 1 - - - - - - - - - - - - - - - Y 0.008 - - -4 - 1 N - - SLC47A2 Ala200Val A200V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC47A2 Ala236Val A236V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC4A1 Lys56Glu K56E not reviewed Insufficiently evaluated not reviewed unknown Array rs5036 533 10758 0.0495445 5 0 6 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - SLC4A1 Asp38Ala D38A not reviewed Insufficiently evaluated not reviewed unknown Array rs5035 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 - 9 - - SLC4A1AP Pro139Thr P139T not reviewed Insufficiently evaluated not reviewed unknown Array rs9678851 5096 10756 0.473782 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SLC4A1AP Gln359His Q359H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - -1 - 2 N - - SLC4A1AP Ile492Leu I492L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SLC4A2 Gly26Glu G26E not reviewed Insufficiently evaluated not reviewed unknown Array rs2303929 2093 10758 0.194553 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.402 - - 6 Y 0 N - - SLC4A3 Pro54Leu P54L not reviewed Insufficiently evaluated not reviewed unknown Array rs73072582 124 10756 0.0115284 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SLC4A3 His157Pro H157P not reviewed Insufficiently evaluated not reviewed unknown Array rs597306 10170 10738 0.947104 41 0 78 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC4A3 Met738Val M738V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 0 - 1 N - - SLC4A3 Met765Val M765V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC4A3 Asp867Ala D867A not reviewed Insufficiently evaluated not reviewed unknown Array rs635311 7247 10756 0.673763 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC4A3 Asp894Ala D894A not reviewed Insufficiently evaluated not reviewed unknown Array rs635311 69 104 0.663462 36 0 56 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC4A3 Arg1079Trp R1079W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 7 Y 2 N - - SLC4A3 Arg1106Trp R1106W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC4A4 Ile1074Leu I1074L not reviewed Insufficiently evaluated not reviewed unknown Array rs1062677 1317 7774 0.169411 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - SLC4A5 Val1090Ile V1090I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - SLC4A5 Val1106Ile V1106I not reviewed Insufficiently evaluated not reviewed unknown Array rs36081793 260 10758 0.0241681 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.25 - - -4 - 1 N - - SLC4A5 His253Tyr H253Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55651232 408 10758 0.0379253 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.984 - - -1 - 2 N - - SLC4A5 Ser251Asn S251N not reviewed Insufficiently evaluated not reviewed unknown Array rs17009792 727 10758 0.0675776 8 0 10 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - SLC4A7 Glu326Lys E326K not reviewed Insufficiently evaluated not reviewed unknown Array rs3755652 2050 10758 0.190556 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC4A7 Glu252Asp E252D not reviewed Insufficiently evaluated not reviewed unknown Array rs73824931 371 10758 0.034486 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC5A10 Ala522Val A522V not reviewed Insufficiently evaluated not reviewed unknown Array 1080 10756 0.100409 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC5A10 Ala538Val A538V not reviewed Insufficiently evaluated not reviewed unknown Array rs12604020 23 126 0.18254 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC5A11 Val182Ala V182A not reviewed Insufficiently evaluated not reviewed unknown Array rs11074656 3180 10758 0.295594 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - SLC5A11 Val539Met V539M not reviewed Insufficiently evaluated not reviewed unknown Array rs35038575 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLC5A12 Ala577Thr A577T not reviewed Insufficiently evaluated not reviewed unknown Array 9 9630 0.000934579 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC5A12 Val510Leu V510L not reviewed Insufficiently evaluated not reviewed unknown Array rs12278761 931 10056 0.0925815 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - SLC5A2 Trp64Arg W64R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - SLC5A2 Thr629Ala T629A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741237 213 10758 0.0197992 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.168 Y - 1 - 1 N - - SLC5A3 Thr50Ala T50A not reviewed Insufficiently evaluated not reviewed unknown Array rs8129891 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC5A3 Val370Met V370M not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SLC5A3 Gln566Lys Q566K not reviewed Insufficiently evaluated not reviewed unknown Array rs4817617 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC5A4 Ser566Gly S566G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - SLC5A4 Arg558His R558H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.208 - - 1 - 1 N - - SLC5A4 Arg267Stop R267X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC5A4 Ser252Asn S252N not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC5A4 Leu132Pro L132P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC5A4 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array rs2235171 859 10758 0.0798476 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC5A4 Ala27Thr A27T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC5A4 Ser8Cys S8C not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.544 - - 3 - 1 N - - SLC5A4 Thr4Met T4M not reviewed Insufficiently evaluated not reviewed unknown Array rs16990065 321 10758 0.0298383 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.972 - - 2 - 2 N - - SLC5A5 Asp503Asn D503N not reviewed Insufficiently evaluated not reviewed unknown Array rs73520745 165 10664 0.0154726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SLC5A6 Ser481Phe S481F not reviewed Insufficiently evaluated not reviewed unknown Array rs1395 5763 10758 0.535694 36 0 53 0 0 - - - - - - - - - - - - - - - - 0.956 - - 5 Y 1 N - - SLC5A6 Ile185Leu I185L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - SLC5A7 Ile89Val I89V not reviewed Insufficiently evaluated not reviewed unknown Array rs1013940 685 10758 0.0636735 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SLC5A8 Met490Ile M490I not reviewed Insufficiently evaluated not reviewed unknown Array rs164365 2079 10758 0.193252 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 0 N - - SLC5A8 Val193Ile V193I not reviewed Insufficiently evaluated not reviewed unknown Array rs1709189 2259 10758 0.209983 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - SLC5A9 Gly103Arg G103R not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SLC5A9 Val152Met V152M not reviewed Insufficiently evaluated not reviewed unknown Array rs212989 2310 10758 0.214724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC5A9 Val177Met V177M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC5A9 Leu182Ser L182S not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - SLC5A9 Leu207Ser L207S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC5A9 Met207Thr M207T not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC5A9 Met232Thr M232T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC5A9 Ile269Met I269M not reviewed Insufficiently evaluated not reviewed unknown Array rs212991 10748 10758 0.99907 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC5A9 Ile294Met I294M not reviewed Insufficiently evaluated not reviewed unknown Array rs212991 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC5A9 Gly516Arg G516R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SLC5A9 Gly541Arg G541R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC5A9 Glu593Stop E593X not reviewed Insufficiently evaluated not reviewed unknown Array rs850763 1646 10758 0.153002 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SLC5A9 Glu618Stop E618X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC5A9 Ala644Glu A644E not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - SLC5A9 Ala669Glu A669E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC6A1 Leu415Ile L415I not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC6A11 Met519Thr M519T not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC6A12 Cys10Arg C10R not reviewed Insufficiently evaluated not reviewed unknown Array rs557881 6341 10758 0.589422 39 0 57 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SLC6A13 Arg577Gln R577Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61741313 588 10758 0.054657 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC6A13 Tyr486His Y486H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC6A14 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array rs73638816 31 8761 0.00353841 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 0 N - - SLC6A15 Ala293Val A293V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SLC6A15 Ala400Val A400V not reviewed Insufficiently evaluated not reviewed unknown Array rs12424429 93 10752 0.00864955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SLC6A15 Ala293Glu A293E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - SLC6A15 Ala400Glu A400E not reviewed Insufficiently evaluated not reviewed unknown Array rs12424429 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 1 - 3 - - SLC6A15 Asp278Val D278V not reviewed Insufficiently evaluated not reviewed unknown Array rs17183577 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC6A15 Gly268Arg G268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC6A15 Leu260Pro L260P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC6A16 Leu278Val L278V not reviewed Insufficiently evaluated not reviewed unknown Array 42 9970 0.00421264 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - 0 - 1 N - - SLC6A17 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs35600013 3521 10758 0.327291 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC6A17 Ile107Leu I107L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SLC6A17 Val233Met V233M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 1 - 1 - - SLC6A18 Cys12Ser C12S not reviewed Insufficiently evaluated not reviewed unknown Array rs7728667 8526 10758 0.792526 51 0 86 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC6A18 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array rs7705355 9335 10758 0.867726 41 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC6A18 Gly33Arg G33R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - SLC6A18 Tyr319Stop Y319X not reviewed Insufficiently evaluated not reviewed unknown Array rs7447815 3905 10758 0.362986 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SLC6A18 Trp438Arg W438R not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.591 - - 7 Y 1 N - - SLC6A18 Pro478Leu P478L not reviewed Insufficiently evaluated not reviewed unknown Array rs4073918 8593 10758 0.798754 46 0 80 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC6A18 Pro564Gln P564Q not reviewed Insufficiently evaluated not reviewed unknown Array 216 10738 0.0201155 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SLC6A19 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array rs7732589 2104 10752 0.195685 20 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - SLC6A2 Asn289Ser N289S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - Y 0 - 1 N - - SLC6A2 Ile549Thr I549T not reviewed Insufficiently evaluated not reviewed unknown Array rs3743788 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - Y 3 - 3 - 6 - - SLC6A20 Thr199Met T199M not reviewed Insufficiently evaluated not reviewed unknown Array rs17279437 736 10326 0.0712764 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - SLC6A20 Ala9Gly A9G not reviewed Insufficiently evaluated not reviewed unknown Array rs2271615 1170 10758 0.108756 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC6A4 Lys605Asn K605N not reviewed Insufficiently evaluated not reviewed unknown Array rs6352 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.588 Y Y 1 - 4 - 2 - - SLC6A5 Ala89Glu A89E benign Insufficiently evaluated benign dominant Array rs61736602 251 10620 0.0236347 1 0 1 3 3 - - - - - - - - - - - - Y - - - 0.011 - Y 3 - 2 - 1 - - Reported causative for hyperekplexia in 2006, but later reports find an allelic frequency of 0.02 in controls and in vitro expression indistinguishable from wildtype. SLC6A5 Gly102Ser G102S not reviewed Insufficiently evaluated not reviewed unknown Array rs1443547 3953 10700 0.369439 25 0 33 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 1 N - - SLC6A5 Phe124Ser F124S not reviewed Insufficiently evaluated not reviewed unknown Array rs1443548 8591 10758 0.798568 45 0 76 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 1 N - - SLC6A5 Ala162Gly A162G not reviewed Insufficiently evaluated not reviewed unknown Array rs1443549 10686 10758 0.993307 55 0 109 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - SLC6A5 Lys457Asn K457N not reviewed Insufficiently evaluated not reviewed unknown Array rs3740870 1219 10758 0.113311 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.051 - Y 1 - 1 N - - SLC6A5 Asp463Asn D463N not reviewed Insufficiently evaluated not reviewed unknown Array rs1805091 2487 10758 0.231177 15 0 17 0 0 - - - - - - - - - - - - Y - - - 0.122 - Y -1 - 2 - 2 - - SLC6A5 Tyr499Phe Y499F not reviewed Insufficiently evaluated not reviewed unknown Array rs7944684 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.56 - Y -4 - 2 N - - SLC6A5 Thr555Pro T555P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.967 - Y 4 Y 3 N - - SLC6A6 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array rs62233560 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC6A7 Gly438Arg G438R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SLC6A7 Met514Leu M514L not reviewed Insufficiently evaluated not reviewed unknown Array rs4705426 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SLC6A8 Asn192Ser N192S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - SLC6A8 Asn77Ser N77S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC6A9 Trp118Stop W118X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC6A9 Trp172Stop W172X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC6A9 Trp99Stop W99X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC7A1 Asn574His N574H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SLC7A10 Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34663170 671 10750 0.0624186 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - SLC7A10 Ala99Val A99V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SLC7A11 Ile202Val I202V not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 1 N - - SLC7A13 Met452Thr M452T not reviewed Insufficiently evaluated not reviewed unknown Array rs9656982 1290 10756 0.119933 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - SLC7A13 Arg380Lys R380K not reviewed Insufficiently evaluated not reviewed unknown Array rs4419794 1075 10722 0.100261 18 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SLC7A13 Val249Met V249M not reviewed Insufficiently evaluated not reviewed unknown Array rs2976189 1605 10758 0.149191 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 1 N - - SLC7A13 Asn45Lys N45K not reviewed Insufficiently evaluated not reviewed unknown Array 404 10758 0.0375534 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - SLC7A14 Ala737Val A737V not reviewed Insufficiently evaluated not reviewed unknown Array rs73040363 617 10758 0.0573527 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SLC7A14 Val506Ile V506I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - SLC7A2 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13259948 1380 9616 0.143511 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 1 N - - SLC7A2 Asp28His D28H not reviewed Insufficiently evaluated not reviewed unknown Array rs13259978 2176 9540 0.228092 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC7A2 Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC7A2 Cys376Ser C376S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLC7A2 Val505Met V505M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC7A2 Val544Met V544M not reviewed Insufficiently evaluated not reviewed unknown Array rs56335308 221 10758 0.0205429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC7A2 Ala531Thr A531T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC7A2 Ala570Thr A570T not reviewed Insufficiently evaluated not reviewed unknown Array rs62622371 945 10758 0.0878416 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC7A2 Leu547Gln L547Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1981498 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC7A2 Leu586Gln L586Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1981498 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC7A3 Leu508Val L508V not reviewed Insufficiently evaluated not reviewed unknown Array rs6525447 2332 8757 0.266301 25 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC7A4 Phe608Tyr F608Y not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - SLC7A4 Ala349Thr A349T not reviewed Insufficiently evaluated not reviewed unknown Array rs2270384 1808 10754 0.168123 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC7A4 Thr28Ile T28I not reviewed Insufficiently evaluated not reviewed unknown Array rs2072550 1806 10758 0.167875 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - SLC7A5 Asn340Thr N340T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SLC7A6 Glu26Asp E26D not reviewed Insufficiently evaluated not reviewed unknown Array rs62636644 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SLC7A6 Ser296Thr S296T not reviewed Insufficiently evaluated not reviewed unknown Array rs62636648 297 10758 0.0276074 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC7A6 Val504Ala V504A not reviewed Insufficiently evaluated not reviewed unknown Array rs62636646 137 10758 0.0127347 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 1 - 1 - - SLC7A6OS Ser116Ala S116A not reviewed Insufficiently evaluated not reviewed unknown Array rs8063446 1236 10654 0.116013 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.012 - - -1 - 1 - 4 - - SLC7A6OS Gly45Asp G45D not reviewed Insufficiently evaluated not reviewed unknown Array rs3803650 6850 10758 0.636735 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SLC7A6OS Val24Met V24M not reviewed Insufficiently evaluated not reviewed unknown Array rs35800405 134 10758 0.0124558 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 1 - 1 - - SLC7A7 Ala91Val A91V not reviewed Insufficiently evaluated not reviewed unknown Array rs11568438 153 10758 0.014222 3 0 2 0 0 - - - - - - - - - - - - Y - - - 0.039 Y Y 2 - 3 - 1 - - SLC7A9 Leu223Met L223M not reviewed Insufficiently evaluated not reviewed unknown Array rs1007160 3517 10758 0.326919 26 0 31 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - -3 - 2 - 3 - - SLC7A9 Val142Ala V142A not reviewed Insufficiently evaluated not reviewed unknown Array rs12150889 3823 10758 0.355363 27 0 32 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 3 - - SLC8A2 Ser349Asn S349N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - SLC8A3 Arg622His R622H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC9A10 Val1058Ala V1058A not reviewed Insufficiently evaluated not reviewed unknown Array rs73853324 582 10754 0.0541194 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - SLC9A10 Ala1057Ser A1057S not reviewed Insufficiently evaluated not reviewed unknown Array 701 10754 0.065185 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SLC9A10 Gly826Ser G826S not reviewed Insufficiently evaluated not reviewed unknown Array rs13098660 3223 10750 0.299814 18 0 16 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - SLC9A10 Ser768Ile S768I not reviewed Insufficiently evaluated not reviewed unknown Array rs9288938 3243 10756 0.301506 30 0 33 0 0 - - - - - - - - - - - - - - - - 0.735 - - 5 Y 0 N - - SLC9A10 Gln732Lys Q732K not reviewed Insufficiently evaluated not reviewed unknown Array rs6781844 7917 10750 0.736465 54 0 91 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 1 N - - SLC9A10 Thr705Ile T705I not reviewed Insufficiently evaluated not reviewed unknown Array rs4434123 7904 10730 0.736626 53 0 89 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - SLC9A10 Asn676Ser N676S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10750 0.00176744 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SLC9A10 Thr424Ala T424A not reviewed Insufficiently evaluated not reviewed unknown Array rs6768523 3138 10758 0.29169 31 0 34 0 0 - - - - - - - - - - - - - - - - 0.239 - - 1 - 0 N - - SLC9A10 Ile364Val I364V not reviewed Insufficiently evaluated not reviewed unknown Array rs9809384 6208 10758 0.577059 54 0 78 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC9A10 Ile348Met I348M not reviewed Insufficiently evaluated not reviewed unknown Array rs9809404 6209 10758 0.577152 53 0 75 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC9A10 Ile286Val I286V not reviewed Insufficiently evaluated not reviewed unknown Array rs9872691 3147 10750 0.292744 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLC9A10 Ile158Val I158V not reviewed Insufficiently evaluated not reviewed unknown Array rs9828502 3085 10758 0.286763 28 0 31 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - SLC9A11 Ala1104Val A1104V not reviewed Insufficiently evaluated not reviewed unknown Array rs72709309 324 10758 0.0301171 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC9A11 Ala505Gly A505G not reviewed Insufficiently evaluated not reviewed unknown Array rs16846206 1937 10758 0.180052 23 0 31 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - SLC9A11 Thr481Met T481M not reviewed Insufficiently evaluated not reviewed unknown Array rs7551131 590 10756 0.0548531 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 1 N - - SLC9A11 Trp118Cys W118C not reviewed Insufficiently evaluated not reviewed unknown Array 50 10754 0.00464943 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SLC9A2 Ala42Asp A42D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 5 Y 1 - 1 - - SLC9A3 Cys799Arg C799R not reviewed Insufficiently evaluated not reviewed unknown Array rs2247114 9376 10746 0.872511 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SLC9A3 Arg474Gln R474Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SLC9A3R2 Glu222Lys E222K not reviewed Insufficiently evaluated not reviewed unknown Array rs57986628 59 10618 0.0055566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SLC9A4 Gly116Ser G116S not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.234 - - 2 - 1 N - - SLC9A4 Ile581Val I581V not reviewed Insufficiently evaluated not reviewed unknown Array rs6742280 262 10758 0.024354 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC9A4 Ser585Phe S585F not reviewed Insufficiently evaluated not reviewed unknown Array rs61731274 87 10758 0.008087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.441 - - 5 Y 1 N - - SLC9A4 Arg640Lys R640K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731289 346 10758 0.0321621 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - SLC9A4 Gly784Ser G784S not reviewed Insufficiently evaluated not reviewed unknown Array rs1014286 6824 10758 0.634319 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC9A5 Val738Phe V738F not reviewed Insufficiently evaluated not reviewed unknown Array 62 10168 0.00609756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - SLC9A8 Glu119Lys E119K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - SLC9A9 Asp496Asn D496N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - SLCO1A2 Thr668Ser T668S not reviewed Insufficiently evaluated not reviewed unknown Array rs11568557 193 10756 0.0179435 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - -2 - 1 N - - SLCO1A2 Glu172Asp E172D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11568563 457 10758 0.04248 3 0 3 1 0 - - - - - - - - - - - - - - - Y 0.997 - - -2 - 4 N 10 - - SLCO1A2 Ile13Thr I13T not reviewed Insufficiently evaluated not reviewed unknown Array rs10841795 1057 10752 0.0983073 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - SLCO1B1 Asn130Asp N130D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2306283 5659 10722 0.527793 47 0 69 3 3 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - Low plasma AUC but no change in in-vitro transport with pravastatin. SLCO1B1 Pro155Thr P155T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11045819 1451 10732 0.135203 14 0 16 1 1 2 Y - - - - - - - - - - - - - Y - - - 4 Y 1 N - - SLCO1B1 Val174Ala V174A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4149056 1214 10758 0.112846 8 0 9 9 9 - - - - - - - - - - - - - - Y Y - - - 2 - 2 N - - Increased plasma AUC with repaglinide. SLCO1B1 Ile245Val I245V not reviewed Insufficiently evaluated not reviewed unknown Array rs11045852 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLCO1B1 Phe400Leu F400L not reviewed Insufficiently evaluated not reviewed unknown Array rs59113707 179 10746 0.0166574 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO1B1 Leu424Phe L424F not reviewed Insufficiently evaluated not reviewed unknown Array rs61176925 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO1B1 Ile499Val I499V not reviewed Insufficiently evaluated not reviewed unknown Array rs74064213 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLCO1B3 His4Arg H4R not reviewed Insufficiently evaluated not reviewed unknown Array rs61612406 85 10746 0.00790992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.658 - - 1 - 1 N - - SLCO1B3 Phe36Leu F36L not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.224 - - 0 - 2 - 1 - - SLCO1B3 Ser112Ala S112A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4149117 7725 10756 0.718204 44 0 72 1 1 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - SLCO1B3 Thr147Ala T147A not reviewed Insufficiently evaluated not reviewed unknown Array rs57585902 103 10714 0.00961359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 1 - 2 - - SLCO1B3 Met233Ile M233I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7311358 7725 10758 0.71807 46 0 74 1 1 - - - - - - - - - - - - - - - Y 0.131 - - -1 - 1 N - - SLCO1B3 Gly256Ala G256A not reviewed Insufficiently evaluated not reviewed unknown Array rs60140950 1232 10758 0.114519 10 0 14 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 1 N - - SLCO1B3 Ile270Met I270M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.789 - - -1 - 1 N - - SLCO1C1 Asn191Lys N191K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLCO1C1 Asn260Lys N260K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLCO1C1 Asn309Lys N309K not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLCO1C1 Pro528Thr P528T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLCO1C1 Pro646Thr P646T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLCO1C1 Ser559Phe S559F not reviewed Insufficiently evaluated not reviewed unknown Array rs6487138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLCO1C1 Ser677Phe S677F not reviewed Insufficiently evaluated not reviewed unknown Array rs6487138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLCO2A1 Asn462Ser N462S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO2A1 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array rs34550074 2877 10758 0.267429 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLCO2B1 Arg121His R121H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLCO2B1 Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.515 - - 1 - 1 N - - SLCO2B1 Val179Met V179M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLCO2B1 Val201Met V201M not reviewed Insufficiently evaluated not reviewed unknown Array rs35199625 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - SLCO2B1 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLCO2B1 Arg168Gln R168Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - Poor response to montelukast. SLCO2B1 Arg290Gln R290Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO2B1 Arg312Gln R312Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12422149 1036 10758 0.0963004 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SLCO2B1 Ile248Thr I248T not reviewed Insufficiently evaluated not reviewed unknown Array rs1621378 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLCO2B1 Ile370Thr I370T not reviewed Insufficiently evaluated not reviewed unknown Array rs1621378 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLCO2B1 Ile392Thr I392T not reviewed Insufficiently evaluated not reviewed unknown Array rs1621378 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLCO2B1 Ser342Phe S342F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLCO2B1 Ser464Phe S464F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLCO2B1 Ser486Phe S486F not reviewed Insufficiently evaluated not reviewed unknown Array rs2306168 1409 10758 0.130972 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLCO3A1 Glu294Asp E294D not reviewed Insufficiently evaluated not reviewed unknown Array rs1517618 9152 10758 0.850716 55 0 100 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SLCO4A1 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10660 0.000187617 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLCO4A1 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34419428 398 10680 0.0372659 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SLCO4A1 Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array rs1047099 2096 10702 0.195851 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SLCO4A1 Arg134Pro R134P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - SLCO5A1 Thr104Ser T104S not reviewed Insufficiently evaluated not reviewed unknown Array rs35616937 172 10758 0.0159881 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SLCO5A1 Leu33Phe L33F not reviewed Insufficiently evaluated not reviewed unknown Array rs3750266 5489 10758 0.510225 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLCO6A1 Lys710Glu K710E not reviewed Insufficiently evaluated not reviewed unknown Array 14 10752 0.00130208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SLCO6A1 Thr654Arg T654R not reviewed Insufficiently evaluated not reviewed unknown Array rs10055840 2535 10746 0.235902 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - SLCO6A1 Arg646Gln R646Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72779942 149 10748 0.013863 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SLCO6A1 Pro527Ala P527A not reviewed Insufficiently evaluated not reviewed unknown Array rs10073333 768 10740 0.0715084 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 1 N - - SLCO6A1 Lys381Arg K381R not reviewed Insufficiently evaluated not reviewed unknown Array rs17150488 727 10692 0.0679948 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.463 - - -3 - 1 - 4 - - SLCO6A1 Ala27Val A27V not reviewed Insufficiently evaluated not reviewed unknown Array rs13190449 298 10756 0.0277055 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.275 - - 2 - 2 - 3 - - SLFN11 Arg647Stop R647X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLFN11 Arg489Leu R489L not reviewed Insufficiently evaluated not reviewed unknown Array rs9898983 2501 10604 0.235854 27 0 31 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - SLFN11 Asn301Asp N301D not reviewed Insufficiently evaluated not reviewed unknown Array rs4796077 10334 10758 0.960587 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLFN11 Val121Phe V121F not reviewed Insufficiently evaluated not reviewed unknown Array rs12453150 4762 10758 0.442647 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLFN11 Pro70Thr P70T not reviewed Insufficiently evaluated not reviewed unknown Array rs72825958 1603 10758 0.149005 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.419 - - 4 Y 0 N - - SLFN12 Ser448Pro S448P not reviewed Insufficiently evaluated not reviewed unknown Array rs12946189 368 10758 0.0342071 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - SLFN12 Ser385Leu S385L not reviewed Insufficiently evaluated not reviewed unknown Array 117 10742 0.0108918 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.285 - - 6 Y 2 - 1 - - SLFN12 Met278Ile M278I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - -1 - 1 N - - SLFN12 Cys168Arg C168R not reviewed Insufficiently evaluated not reviewed unknown Array rs2586514 6542 10728 0.609806 48 0 63 0 0 - - - - - - - - - - - - - - - - 0.958 - - 8 Y 1 N - - SLFN12 Asp130Val D130V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - SLFN12 Ser43Arg S43R not reviewed Insufficiently evaluated not reviewed unknown Array rs1849733 4681 10758 0.435118 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 0 N - - SLFN12L Tyr547Ser Y547S not reviewed Insufficiently evaluated not reviewed unknown Array rs3744372 598 3234 0.18491 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLFN12L Tyr412Cys Y412C not reviewed Insufficiently evaluated not reviewed unknown Array rs2304968 2310 3234 0.714286 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLFN12L Ala402Gly A402G not reviewed Insufficiently evaluated not reviewed unknown Array rs2304967 598 3234 0.18491 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLFN12L Ser257Leu S257L not reviewed Insufficiently evaluated not reviewed unknown Array rs12451679 98 3234 0.030303 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLFN13 Lys658Asn K658N not reviewed Insufficiently evaluated not reviewed unknown Array rs75812929 372 10754 0.0345918 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLFN13 Glu652Lys E652K not reviewed Insufficiently evaluated not reviewed unknown Array rs3744371 6163 10670 0.577601 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLFN13 Asp642Val D642V not reviewed Insufficiently evaluated not reviewed unknown Array rs11657183 1132 10358 0.109288 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.216 - - 8 Y 0 N - - SLFN13 Pro635Thr P635T not reviewed Insufficiently evaluated not reviewed unknown Array 89 10738 0.00828832 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - SLFN13 Ala523Thr A523T not reviewed Insufficiently evaluated not reviewed unknown Array rs7214751 1794 10686 0.167883 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SLFN13 Arg489Leu R489L not reviewed Insufficiently evaluated not reviewed unknown Array rs62078111 1660 10758 0.154304 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - SLFN13 Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array rs16970912 178 10758 0.0165458 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - SLFN13 Met431Ile M431I not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - -1 - 0 N - - SLFN13 Glu306Gln E306Q not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - SLFN13 Ser235Phe S235F not reviewed Insufficiently evaluated not reviewed unknown Array rs72483216 301 10758 0.0279792 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.888 - - 5 Y 2 N - - SLFN13 Ala50Thr A50T not reviewed Insufficiently evaluated not reviewed unknown Array rs7216628 194 10758 0.0180331 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 1 - 1 - - SLFN13 Tyr14Stop Y14X not reviewed Insufficiently evaluated not reviewed unknown Array rs8072510 1037 10758 0.0963934 10 0 15 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SLFN13 Asn4Ser N4S not reviewed Insufficiently evaluated not reviewed unknown Array rs12943866 815 10758 0.0757576 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 0 N - - SLFN14 Tyr912Phe Y912F not reviewed Insufficiently evaluated not reviewed unknown Array rs8073060 1091 3234 0.337353 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SLFN14 Lys450Glu K450E not reviewed Insufficiently evaluated not reviewed unknown Array 98 3234 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - SLFN14 Lys385Glu K385E not reviewed Insufficiently evaluated not reviewed unknown Array rs321612 2027 3234 0.626778 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLFN14 Pro356Ser P356S not reviewed Insufficiently evaluated not reviewed unknown Array rs321613 2025 3234 0.62616 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLFN14 Gln93Arg Q93R not reviewed Insufficiently evaluated not reviewed unknown Array rs10512472 592 3234 0.183055 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 0 N - - SLFN5 Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array rs73278963 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - SLFN5 Glu641Asp E641D not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SLFN5 Arg655Gly R655G not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SLFN5 Pro787Leu P787L not reviewed Insufficiently evaluated not reviewed unknown Array rs11651240 3688 10758 0.342815 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - SLFN5 Ala797Val A797V not reviewed Insufficiently evaluated not reviewed unknown Array rs2291189 881 10758 0.0818925 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLFNL1 Val344Ala V344A not reviewed Insufficiently evaluated not reviewed unknown Array 121 10754 0.0112516 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - SLFNL1 Arg144Thr R144T not reviewed Insufficiently evaluated not reviewed unknown Array rs3738368 2465 10758 0.229132 21 0 26 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - SLFNL1 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array rs1138293 1571 10756 0.146058 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - SLIT1 Pro824Leu P824L not reviewed Insufficiently evaluated not reviewed unknown Array rs2817673 68 10518 0.00646511 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 6 - - SLIT1 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array rs41307074 510 10758 0.0474066 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLIT2 Leu220Phe L220F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - SLIT2 Ala844Val A844V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - SLIT3 Gly1518Ser G1518S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - SLIT3 Thr1295Met T1295M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SLIT3 Pro1107Arg P1107R not reviewed Insufficiently evaluated not reviewed unknown Array rs35305517 176 10754 0.016366 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 5 Y 0 N - - SLIT3 Pro1064Ala P1064A not reviewed Insufficiently evaluated not reviewed unknown Array rs10072243 385 10758 0.0357873 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SLIT3 Gly841Ala G841A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 1 - 2 N - - SLIT3 Arg810Gln R810Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36052924 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SLIT3 Gly618Ser G618S not reviewed Insufficiently evaluated not reviewed unknown Array rs10036727 6169 10758 0.573434 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLIT3 Ser528Gly S528G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 2 - 1 N - - SLIT3 Val504Met V504M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - SLIT3 Val371Ala V371A not reviewed Insufficiently evaluated not reviewed unknown Array rs891921 9997 10758 0.929262 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLITRK2 Ser601Pro S601P not reviewed Insufficiently evaluated not reviewed unknown Array rs2295336 33 8761 0.00376669 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLITRK3 Gly713Glu G713E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLITRK3 Ile605Val I605V not reviewed Insufficiently evaluated not reviewed unknown Array rs3828419 219 10758 0.0203569 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLITRK4 Leu12Pro L12P not reviewed Insufficiently evaluated not reviewed unknown Array rs73577388 7 8760 0.000799086 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLITRK6 Gln414Arg Q414R not reviewed Insufficiently evaluated not reviewed unknown Array rs17080147 808 9590 0.0842544 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 1 N - - SLK Cys552Tyr C552Y not reviewed Insufficiently evaluated not reviewed unknown Array rs805657 2335 10758 0.217048 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLK Gln662His Q662H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 1 N - - SLK Gly666Glu G666E not reviewed Insufficiently evaluated not reviewed unknown Array rs7071400 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - SLK Thr697Ile T697I not reviewed Insufficiently evaluated not reviewed unknown Array rs3740469 2060 10758 0.191485 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 0 N - - SLK Gly1208Arg G1208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SLMAP Ala472Ser A472S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLMAP Ala578Val A578V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLU7 Met229Thr M229T not reviewed Insufficiently evaluated not reviewed unknown Array rs2961944 7249 10746 0.674577 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLU7 Met126Leu M126L not reviewed Insufficiently evaluated not reviewed unknown Array rs41275313 97 10756 0.00901822 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SMAD1 Ser214Ile S214I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.566 Y Y 5 Y 3 N - - SMAD2 Ser403Arg S403R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMAD2 Ser433Arg S433R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SMAD5 Asp236Tyr D236Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMAD5 Phe354Cys F354C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SMAD9 Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753157 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMAD9 Leu22Pro L22P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - SMAP1 Leu19Ile L19I not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - SMAP1 Ala185Val A185V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMAP1 Ala212Val A212V not reviewed Insufficiently evaluated not reviewed unknown Array rs2273566 1564 10758 0.14538 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SMAP2 Ala289Thr A289T not reviewed Insufficiently evaluated not reviewed unknown Array rs34845213 177 10758 0.0164529 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMAP2 Gln426Lys Q426K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - -2 - 2 N - - SMARCA2 Tyr978Phe Y978F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMARCA2 Asp1528Glu D1528E not reviewed Insufficiently evaluated not reviewed unknown Array rs2296212 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SMARCA2 Asp1546Glu D1546E not reviewed Insufficiently evaluated not reviewed unknown Array rs2296212 1771 10758 0.164622 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SMARCA4 Val766Gly V766G not reviewed Insufficiently evaluated not reviewed unknown Array 1009 10758 0.0937907 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - SMARCAD1 Ser247Asn S247N not reviewed Insufficiently evaluated not reviewed unknown Array rs11722476 3630 10750 0.337674 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SMARCAD1 Val301Ala V301A not reviewed Insufficiently evaluated not reviewed unknown Array rs7439869 7509 10648 0.705203 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SMARCAL1 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array rs2066524 178 10758 0.0165458 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y 1 - 1 N - - SMARCAL1 Ser315Arg S315R not reviewed Insufficiently evaluated not reviewed unknown Array rs2066522 502 10758 0.0466629 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.27 - Y 3 - 3 - 2 - - SMARCAL1 Glu377Gln E377Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2066518 363 10758 0.0337423 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.318 - Y -2 - 3 - 1 - - SMARCAL1 Ser415Gly S415G not reviewed Insufficiently evaluated not reviewed unknown Array rs58848916 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 2 - 1 N - - SMARCC1 Lys772Stop K772X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SMARCD1 Gly35Glu G35E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - SMC1B Leu1050Met L1050M not reviewed Insufficiently evaluated not reviewed unknown Array rs5764698 3763 9612 0.39149 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SMC1B Arg758Gln R758Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9614653 848 9480 0.0894515 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SMC1B Cys748Tyr C748Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56174639 1319 9460 0.139429 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SMC1B Phe473Val F473V not reviewed Insufficiently evaluated not reviewed unknown Array rs136603 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SMC1B Gly162Stop G162X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SMC2 Lys1071Arg K1071R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741732 253 10758 0.0235174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SMC4 Asn356Ser N356S not reviewed Insufficiently evaluated not reviewed unknown Array rs33999879 396 10650 0.0371831 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMC5 Ala166Ser A166S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - -1 - 0 N - - SMC5 Val306Ile V306I not reviewed Insufficiently evaluated not reviewed unknown Array rs1180116 9181 10758 0.853411 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SMC5 Cys308Arg C308R not reviewed Insufficiently evaluated not reviewed unknown Array rs1180117 2276 10758 0.211563 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SMC5 His682Arg H682R not reviewed Insufficiently evaluated not reviewed unknown Array rs11142365 1370 10742 0.127537 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - SMC5 Arg733Gln R733Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59648118 94 10748 0.00874581 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - SMC6 Ala691Thr A691T not reviewed Insufficiently evaluated not reviewed unknown Array rs1065381 3487 10750 0.324372 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMC6 Arg464Gly R464G not reviewed Insufficiently evaluated not reviewed unknown Array rs35195207 2148 10758 0.199665 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.039 - - 6 Y 0 N - - SMCHD1 Val708Ile V708I not reviewed Insufficiently evaluated not reviewed unknown Array rs2276092 6808 9502 0.716481 48 0 68 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SMCHD1 Lys879Asn K879N not reviewed Insufficiently evaluated not reviewed unknown Array rs633422 3097 9438 0.328142 21 0 29 0 0 - - - - - - - - - - - - - - - - 0.45 - - 1 - 0 N - - SMCP His7Tyr H7Y not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - -1 - 2 - 9 - - SMCP Gln33Glu Q33E not reviewed Insufficiently evaluated not reviewed unknown Array rs61744935 641 10758 0.0595836 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - SMCR7 Cys169Arg C169R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SMCR7 Ala204Ser A204S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SMCR7 Gly324Glu G324E not reviewed Insufficiently evaluated not reviewed unknown Array rs12603700 14 120 0.116667 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - SMCR7 Gly335Glu G335E not reviewed Insufficiently evaluated not reviewed unknown Array rs12603700 1067 10754 0.0992189 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SMCR7L Gly78Arg G78R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 3 - 3 - - SMCR7L Thr89Met T89M not reviewed Insufficiently evaluated not reviewed unknown Array rs17001213 308 10758 0.0286299 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 1 - 2 - - SMCR7L Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array rs2232088 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - SMCR7L Asp264Asn D264N not reviewed Insufficiently evaluated not reviewed unknown Array rs2232091 87 10758 0.008087 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - SMCR8 Pro108Ser P108S not reviewed Insufficiently evaluated not reviewed unknown Array rs57936109 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - SMCR8 Pro524Leu P524L not reviewed Insufficiently evaluated not reviewed unknown Array rs8080966 2837 10758 0.263711 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 1 N - - SMCR8 Arg556His R556H not reviewed Insufficiently evaluated not reviewed unknown Array rs1563632 7880 10758 0.732478 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMCR8 Gly593Cys G593C not reviewed Insufficiently evaluated not reviewed unknown Array rs73291850 125 10758 0.0116193 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 7 Y 0 N - - SMCR8 Asn636Ser N636S not reviewed Insufficiently evaluated not reviewed unknown Array rs12449313 2397 10758 0.222811 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SMEK2 Thr723Ala T723A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMEK2 Thr808Ala T808A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMEK2 Ile503Val I503V not reviewed Insufficiently evaluated not reviewed unknown Array rs2903704 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMG1 Ile1089Val I1089V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMG5 Glu800Gln E800Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - SMG5 Cys281Trp C281W not reviewed Insufficiently evaluated not reviewed unknown Array rs56280074 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - SMG5 Glu187Gln E187Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - SMG6 Glu1189Lys E1189K not reviewed Insufficiently evaluated not reviewed unknown Array rs58801957 235 10758 0.0218442 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.197 - - 0 - 1 - 1 - - SMG6 Lys1152Thr K1152T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - SMG6 Arg984Cys R984C not reviewed Insufficiently evaluated not reviewed unknown Array rs35173108 393 10758 0.036531 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.771 - - 8 Y 1 N - - SMG6 Ala972Thr A972T not reviewed Insufficiently evaluated not reviewed unknown Array rs903160 3997 10758 0.371537 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMG6 Asn341Thr N341T not reviewed Insufficiently evaluated not reviewed unknown Array rs1885987 3059 10758 0.284347 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMG6 Lys294Gln K294Q not reviewed Insufficiently evaluated not reviewed unknown Array rs216195 3386 10758 0.314743 24 0 34 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 1 N - - SMG6 Arg291Pro R291P not reviewed Insufficiently evaluated not reviewed unknown Array rs1885986 2790 10758 0.259342 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - SMG6 Gly27Glu G27E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - SMG7 Val812Ile V812I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMG7 Val854Ile V854I not reviewed Insufficiently evaluated not reviewed unknown Array rs2298083 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMG7 Val900Ile V900I not reviewed Insufficiently evaluated not reviewed unknown Array rs2298083 1784 10758 0.16583 22 0 31 0 0 - - - - - - - - - - - - - - - - 0.25 - - -4 - 0 N - - SMO Ile408Leu I408L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - SMO Pro647Ser P647S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10752 0.00530134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 2 - - SMO Pro687Leu P687L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10538 0.00303663 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 7 Y 2 - 1 - - SMOC1 Ala296Thr A296T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - SMOC2 Ala433Val A433V not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMPD1 Val36Ala V36A not reviewed Insufficiently evaluated not reviewed unknown Array rs1050228 4754 10636 0.446973 12 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SMPD1 Ala38Val A38V not reviewed Insufficiently evaluated not reviewed unknown Array 587 10672 0.0550037 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SMPD1 Pro187Ser P187S not reviewed Insufficiently evaluated not reviewed unknown Array rs74053349 184 10696 0.0172027 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SMPD1 Gly464Arg G464R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SMPD1 Gly508Arg G508R not reviewed Insufficiently evaluated not reviewed unknown Array rs1050239 2147 10758 0.199572 16 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 - 8 - - SMPD2 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array rs1048197 489 10758 0.0454545 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SMPD2 Arg265Ser R265S not reviewed Insufficiently evaluated not reviewed unknown Array rs1476387 5565 10758 0.517289 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SMPD3 Cys617Tyr C617Y not reviewed Insufficiently evaluated not reviewed unknown Array rs71395853 422 10758 0.0392266 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SMPD3 Thr554Met T554M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - 2 - 0 N - - SMPD3 Ala344Gly A344G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SMPD4 Arg478Stop R478X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SMPD4 Arg507Stop R507X not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SMPDL3A Pro161Ser P161S not reviewed Insufficiently evaluated not reviewed unknown Array rs28385609 1202 10758 0.111731 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.261 - - 3 - 0 N - - SMPDL3A Ile264Ser I264S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SMPDL3A Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745223 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMPDL3A Cys420Tyr C420Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - SMPDL3B Glu110Gly E110G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SMPDL3B Val263Ala V263A not reviewed Insufficiently evaluated not reviewed unknown Array rs3813803 2485 10758 0.230991 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.472 - - 2 - 0 N - - SMR3A Gly28Arg G28R not reviewed Insufficiently evaluated not reviewed unknown Array rs10031844 2477 10758 0.230247 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SMR3A Cys42Arg C42R not reviewed Insufficiently evaluated not reviewed unknown Array rs10024123 10068 10758 0.935862 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SMR3A Pro132Leu P132L not reviewed Insufficiently evaluated not reviewed unknown Array rs6853742 7588 10758 0.705336 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SMTN Ala7Gly A7G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - SMTN Ala547Pro A547P not reviewed Insufficiently evaluated not reviewed unknown Array rs3205187 6454 10758 0.599926 37 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SMTN Ala559Val A559V not reviewed Insufficiently evaluated not reviewed unknown Array rs5997872 1806 10758 0.167875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SMTN Arg642Cys R642C not reviewed Insufficiently evaluated not reviewed unknown Array rs34292278 815 10756 0.0757717 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SMTN Glu774Gln E774Q not reviewed Insufficiently evaluated not reviewed unknown Array 161 10652 0.0151145 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SMTNL1 His302Tyr H302Y not reviewed Insufficiently evaluated not reviewed unknown Array 43 9978 0.00430948 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SMTNL1 Arg363Gly R363G not reviewed Insufficiently evaluated not reviewed unknown Array rs12223229 3741 9612 0.389201 21 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SMTNL2 Ala162Thr A162T not reviewed Insufficiently evaluated not reviewed unknown Array rs12449695 2635 10758 0.244934 28 0 36 0 0 - - - - - - - - - - - - - - - - 0.257 - - 1 - 0 N - - SMTNL2 Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMTNL2 His194Pro H194P not reviewed Insufficiently evaluated not reviewed unknown Array 1584 10758 0.147239 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - SMTNL2 His50Pro H50P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SMTNL2 Trp107Arg W107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMTNL2 Trp251Arg W251R not reviewed Insufficiently evaluated not reviewed unknown Array rs9916524 436 10758 0.040528 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMTNL2 Asn311Thr N311T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMTNL2 Asn455Thr N455T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 1 - 2 N - - SMU1 Lys308Thr K308T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.468 - - 3 - 1 N - - SMURF2 Asn292Ser N292S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SMYD1 Gln164Pro Q164P not reviewed Insufficiently evaluated not reviewed unknown Array rs1542087 1610 10758 0.149656 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SMYD1 Glu476Lys E476K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 2 N - - SMYD2 Gly165Glu G165E not reviewed Insufficiently evaluated not reviewed unknown Array rs1134647 10085 10758 0.937442 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SMYD2 Phe166Cys F166C not reviewed Insufficiently evaluated not reviewed unknown Array rs61755311 84 10758 0.00780814 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.056 - - 4 Y 0 N - - SMYD2 Ile430Met I430M not reviewed Insufficiently evaluated not reviewed unknown Array rs11120301 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SMYD4 Pro797His P797H not reviewed Insufficiently evaluated not reviewed unknown Array rs58337165 1171 10758 0.108849 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.406 - - 5 Y 0 N - - SMYD4 Tyr727Cys Y727C not reviewed Insufficiently evaluated not reviewed unknown Array rs9902398 8294 10758 0.770961 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SMYD4 Val645Ile V645I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.469 - - -4 - 1 N - - SMYD4 Arg562Trp R562W not reviewed Insufficiently evaluated not reviewed unknown Array rs11549830 3763 10744 0.350242 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.2 - - 7 Y 0 N - - SMYD4 Pro382Arg P382R not reviewed Insufficiently evaluated not reviewed unknown Array rs3809875 3555 10758 0.330452 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 1 N - - SMYD4 Ile374Met I374M not reviewed Insufficiently evaluated not reviewed unknown Array rs9890631 222 10758 0.0206358 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 1 - 3 - - SMYD4 Gly236Ser G236S not reviewed Insufficiently evaluated not reviewed unknown Array rs9913923 1467 10758 0.136364 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SMYD4 Arg131Ile R131I not reviewed Insufficiently evaluated not reviewed unknown Array rs7224496 4326 10758 0.402119 32 0 37 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 1 N - - SMYD4 Val23Ala V23A not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 2 - 0 N - - SMYD5 Ser363Thr S363T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SNAI1 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array rs34261470 277 10758 0.0257483 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SNAI1 Val118Ala V118A not reviewed Insufficiently evaluated not reviewed unknown Array rs4647958 3146 10758 0.292434 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SNAI3 Gly291Arg G291R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736221 47 10750 0.00437209 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - SNAP47 Arg39Cys R39C not reviewed Insufficiently evaluated not reviewed unknown Array rs58295986 274 10758 0.0254694 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.023 - - 8 Y 0 N - - SNAP47 Arg48Gly R48G not reviewed Insufficiently evaluated not reviewed unknown Array rs2236359 4523 10758 0.420431 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.031 - - 6 Y 0 N - - SNAP47 Val154Met V154M not reviewed Insufficiently evaluated not reviewed unknown Array rs2236358 736 10758 0.0684142 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - SNAP47 Arg381Cys R381C not reviewed Insufficiently evaluated not reviewed unknown Array rs17851681 867 10758 0.0805912 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - SNAP47 Arg385Cys R385C not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - SNAPC1 Met36Arg M36R not reviewed Insufficiently evaluated not reviewed unknown Array 321 10758 0.0298383 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.809 - - 4 Y 1 N - - SNAPC2 Leu118Val L118V not reviewed Insufficiently evaluated not reviewed unknown Array rs475002 4989 10754 0.46392 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SNAPC4 Pro1448Ser P1448S not reviewed Insufficiently evaluated not reviewed unknown Array rs3812561 409 10758 0.0380182 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 5 - - SNAPC4 Pro941Ser P941S not reviewed Insufficiently evaluated not reviewed unknown Array 122 10688 0.0114147 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - SNAPC4 His799Gln H799Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3812571 4485 10750 0.417209 35 0 39 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SNAPC4 Arg729Gln R729Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34569521 677 10728 0.0631059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - SNCA Ala18Gly A18G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.306 Y Y 1 - 3 N - - SNCG Glu110Val E110V not reviewed Insufficiently evaluated not reviewed unknown Array rs9864 2477 10758 0.230247 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SNED1 Val312Met V312M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - SNED1 Ala786Thr A786T not reviewed Insufficiently evaluated not reviewed unknown Array 134 10030 0.0133599 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNED1 Leu1228Pro L1228P not reviewed Insufficiently evaluated not reviewed unknown Array rs17440466 961 9438 0.101822 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 1 N - - SNED1 Ala1362Ser A1362S not reviewed Insufficiently evaluated not reviewed unknown Array rs2108485 3288 10206 0.322163 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SNIP Val858Met V858M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SNIP Met650Ile M650I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SNPH His127Gln H127Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SNPH Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10704 0.00102765 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SNRK Thr347Pro T347P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SNRK Pro391Ser P391S not reviewed Insufficiently evaluated not reviewed unknown Array 93 10220 0.0090998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 2 - - SNRK Leu672Phe L672F not reviewed Insufficiently evaluated not reviewed unknown Array 842 9662 0.0871455 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 1 N - - SNRNP48 Pro45Leu P45L not reviewed Insufficiently evaluated not reviewed unknown Array rs2757594 3049 10510 0.290105 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - SNRPN Pro186Ser P186S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SNTB1 Ser243Gly S243G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 2 - 0 N - - SNTB1 Asp228Glu D228E not reviewed Insufficiently evaluated not reviewed unknown Array rs58509927 238 10758 0.0221231 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SNTG2 Ser168Tyr S168Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28505970 1998 10106 0.197704 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - SNTG2 Ser200Leu S200L not reviewed Insufficiently evaluated not reviewed unknown Array rs6751090 1810 10406 0.173938 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.813 - - 6 Y 0 N - - SNTG2 Ile391Val I391V not reviewed Insufficiently evaluated not reviewed unknown Array rs13023962 2992 9860 0.303448 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SNTG2 Thr495Met T495M not reviewed Insufficiently evaluated not reviewed unknown Array rs4927635 1628 3234 0.503401 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SNUPN Pro236Ser P236S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - SNX15 Arg248Cys R248C not reviewed Insufficiently evaluated not reviewed unknown Array rs495820 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SNX15 Arg334Cys R334C not reviewed Insufficiently evaluated not reviewed unknown Array rs495820 1197 10758 0.111266 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.838 - - 8 Y 0 N - - SNX16 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array rs16919654 129 10758 0.0119911 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SNX18 Glu571Asp E571D not reviewed Insufficiently evaluated not reviewed unknown Array rs2548612 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SNX18 Lys593Thr K593T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNX19 Thr975Ser T975S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - -2 - 0 N - - SNX19 Leu878Arg L878R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2298566 8700 10758 0.808701 54 0 89 1 1 4 Y - - - - - - - - - - - - - Y - - - 6 Y 1 N - - SNX19 Asn753Ser N753S not reviewed Insufficiently evaluated not reviewed unknown Array rs4414223 6808 10756 0.632949 50 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SNX19 Leu618Phe L618F not reviewed Insufficiently evaluated not reviewed unknown Array rs681982 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SNX19 Pro480Leu P480L not reviewed Insufficiently evaluated not reviewed unknown Array rs62621284 1739 10758 0.161647 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 1 N - - SNX19 Gly421Arg G421R not reviewed Insufficiently evaluated not reviewed unknown Array rs62642497 708 10758 0.0658115 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 1 N - - SNX19 Ser407Gly S407G not reviewed Insufficiently evaluated not reviewed unknown Array rs3190345 1736 10758 0.161368 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SNX19 Asp396Glu D396E not reviewed Insufficiently evaluated not reviewed unknown Array rs52802589 1738 10758 0.161554 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SNX19 Gly381Ser G381S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736758 1736 10758 0.161368 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SNX19 Val361Leu V361L not reviewed Insufficiently evaluated not reviewed unknown Array rs3751037 7657 10758 0.711749 53 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SNX19 Ser252Asn S252N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 2 N - - SNX19 Ser26Arg S26R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - SNX19 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - SNX20 Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNX20 Gly303Ser G303S not reviewed Insufficiently evaluated not reviewed unknown Array rs57853215 43 10756 0.00399777 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - SNX20 Ala244Pro A244P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 2 - 1 N - - SNX20 Pro35Leu P35L not reviewed Insufficiently evaluated not reviewed unknown Array rs1131716 1452 10758 0.134969 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 0 N - - SNX21 Ala36Thr A36T not reviewed Insufficiently evaluated not reviewed unknown Array rs57799507 9 10614 0.000847936 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 1 N - - SNX21 Asp117Asn D117N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - SNX21 Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array rs4638862 4353 10758 0.404629 26 0 35 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 0 N - - SNX26 Gly799Ala G799A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNX31 Asp428Gly D428G not reviewed Insufficiently evaluated not reviewed unknown Array rs2022923 4966 10750 0.461953 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SNX31 Gln309Arg Q309R not reviewed Insufficiently evaluated not reviewed unknown Array rs2248609 4388 10758 0.407883 35 0 44 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SNX31 Asp73His D73H not reviewed Insufficiently evaluated not reviewed unknown Array rs2187016 3232 10758 0.300428 34 0 38 0 0 - - - - - - - - - - - - - - - - 0.312 - - 3 - 0 N - - SNX32 Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 3 - 1 N - - SNX32 Gly179Arg G179R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 6 Y 1 N - - SNX5 Gln11Arg Q11R not reviewed Insufficiently evaluated not reviewed unknown Array 80 8466 0.00944956 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SNX7 Ser123Thr S123T not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SNX7 Ser59Thr S59T not reviewed Insufficiently evaluated not reviewed unknown Array rs35296149 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SNX7 Phe186Leu F186L not reviewed Insufficiently evaluated not reviewed unknown Array rs35391040 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 0 - 3 - 3 - - SNX7 Phe250Leu F250L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - SNX8 Thr268Ile T268I not reviewed Insufficiently evaluated not reviewed unknown Array 152 10756 0.0141316 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SNX9 Ile28Leu I28L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - SNX9 Asp180Asn D180N not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SNX9 Thr418Met T418M not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.844 - - 2 - 1 N - - SOAT1 Gln204Glu Q204E not reviewed Insufficiently evaluated not reviewed unknown Array rs73048613 146 10758 0.0135713 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - SOAT1 Gln526Arg Q526R not reviewed Insufficiently evaluated not reviewed unknown Array rs13306731 568 10758 0.0527979 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SOAT2 Glu14Gly E14G not reviewed Insufficiently evaluated not reviewed unknown Array rs9658625 472 9012 0.0523746 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SOAT2 Thr254Ile T254I not reviewed Insufficiently evaluated not reviewed unknown Array rs2272296 2364 10758 0.219743 33 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SOBP Ser683Gly S683G not reviewed Insufficiently evaluated not reviewed unknown Array rs9486659 2107 2140 0.984579 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SOCS6 Ser245Phe S245F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SOCS7 Ser367Pro S367P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SOD2 Val16Ala V16A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4880 5122 10756 0.476199 37 0 48 5 5 - - - - - - - - - - - - - - - Y - - - 2 - 1 N - - SOD3 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array rs2536512 5480 10540 0.519924 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SOHLH1 Trp314Stop W314X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SOHLH1 Pro269Ser P269S not reviewed Insufficiently evaluated not reviewed unknown Array rs3119932 9213 10562 0.872278 49 0 49 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 1 N - - SOHLH1 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array rs471525 9428 10688 0.882111 40 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SOHLH2 Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61750906 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SOHLH2 Ala339Thr A339T not reviewed Insufficiently evaluated not reviewed unknown Array rs2296968 1947 10758 0.180982 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SOLH Arg309His R309H not reviewed Insufficiently evaluated not reviewed unknown Array 418 10666 0.0391899 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SOLH Val356Ala V356A not reviewed Insufficiently evaluated not reviewed unknown Array 352 10614 0.0331637 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SOLH Gly1079Ser G1079S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - SON Thr555Met T555M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 3 - - SON Ser1032Thr S1032T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 3 - 2 - - SON Ser1202Leu S1202L not reviewed Insufficiently evaluated not reviewed unknown Array rs13433428 10757 10758 0.999907 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SON Met1502Ile M1502I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743204 1069 10754 0.0994049 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SON Arg1575Cys R1575C not reviewed Insufficiently evaluated not reviewed unknown Array rs13047599 7639 10758 0.710076 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SORBS1 Lys1136Arg K1136R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Lys1277Arg K1277R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739187 209 10756 0.019431 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Lys669Arg K669R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Lys725Arg K725R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Lys766Arg K766R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Lys801Arg K801R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Lys890Arg K890R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SORBS1 Gln507Arg Q507R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SORBS1 Gln563Arg Q563R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS1 Gln604Arg Q604R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS1 Gln639Arg Q639R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS1 Gln708Arg Q708R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS1 Gln857Arg Q857R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS1 Gln879Arg Q879R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS1 Ala452Ser A452S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SORBS1 Pro183Leu P183L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SORBS1 Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS1 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array rs34507864 114 10754 0.0106007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS1 Thr168Ala T168A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS1 Thr205Ala T205A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS1 Thr237Ala T237A not reviewed Insufficiently evaluated not reviewed unknown Array rs2281939 1488 10756 0.138341 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SORBS1 Arg62Trp R62W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - SORBS1 Arg94Trp R94W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS1 Leu29Pro L29P not reviewed Insufficiently evaluated not reviewed unknown Array rs943542 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS1 Leu61Pro L61P not reviewed Insufficiently evaluated not reviewed unknown Array rs943542 10530 10758 0.978806 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SORBS2 Ala1048Val A1048V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala440Val A440V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala592Val A592V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala609Val A609V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala614Val A614V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala679Val A679V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala772Val A772V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS2 Ala952Val A952V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SORBS3 Pro73Leu P73L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SORBS3 Val233Ala V233A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SORBS3 Val236Ala V236A not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SORBS3 Ile214Thr I214T not reviewed Insufficiently evaluated not reviewed unknown Array rs2449331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SORBS3 Ile556Thr I556T not reviewed Insufficiently evaluated not reviewed unknown Array rs2449331 9483 10750 0.88214 41 0 69 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SORBS3 Thr231Ala T231A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS3 Thr573Ala T573A not reviewed Insufficiently evaluated not reviewed unknown Array rs1047030 1444 10574 0.136561 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SORCS1 Glu122Asp E122D not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - SORCS2 Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SORCS2 Thr695Met T695M not reviewed Insufficiently evaluated not reviewed unknown Array rs16840892 102 10272 0.00992991 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SORCS2 Ser716Pro S716P not reviewed Insufficiently evaluated not reviewed unknown Array rs6816604 9225 10068 0.916269 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SORCS2 Ala793Pro A793P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 2 - 0 N - - SORCS3 Thr828Met T828M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SORCS3 Ser1172Asn S1172N not reviewed Insufficiently evaluated not reviewed unknown Array rs41291854 109 10758 0.010132 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - SORD Gln239Leu Q239L not reviewed Insufficiently evaluated not reviewed unknown Array rs55739437 3198 10758 0.297267 17 0 31 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SORD Asn269Thr N269T not reviewed Insufficiently evaluated not reviewed unknown Array rs930337 1303 6324 0.20604 45 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SORD Pro357Leu P357L not reviewed Insufficiently evaluated not reviewed unknown Array 2746 10650 0.25784 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SORL1 Ala528Thr A528T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298813 662 10758 0.0615356 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 0 N - - SORL1 Gln1074Glu Q1074E not reviewed Insufficiently evaluated not reviewed unknown Array rs1699107 10528 10758 0.978621 56 0 106 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SORL1 Arg1936Cys R1936C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SORL1 Val1967Ile V1967I not reviewed Insufficiently evaluated not reviewed unknown Array rs1792120 10578 10758 0.983268 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SORT1 Val650Met V650M not reviewed Insufficiently evaluated not reviewed unknown Array rs72646577 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - SORT1 Asp358Tyr D358Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2228605 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.322 - - 7 Y 2 - 3 - - SOS1 His352Asp H352D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 4 N - - SOS2 Ser483Asn S483N not reviewed Insufficiently evaluated not reviewed unknown Array rs17122201 311 10758 0.0289087 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - SOSTDC1 Gln129Leu Q129L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 3 - 6 - - SOX13 Val319Ala V319A not reviewed Insufficiently evaluated not reviewed unknown Array rs61211343 321 9716 0.0330383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SOX14 Thr194Asn T194N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - SOX18 Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.094 Y - 1 - 1 N - - SOX21 Ser228Thr S228T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - SOX3 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array rs73637709 211 8693 0.0242724 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 10 - - SOX30 Gln563Pro Q563P not reviewed Insufficiently evaluated not reviewed unknown Array rs73306857 207 10758 0.0192415 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - SOX30 Gln429Lys Q429K not reviewed Insufficiently evaluated not reviewed unknown Array rs12188040 231 10758 0.0214724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - SOX30 Glu229Lys E229K not reviewed Insufficiently evaluated not reviewed unknown Array rs41275269 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.095 - - 0 - 1 - 1 - - SOX30 Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10628 0.00235228 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.117 - - 7 Y 1 - 1 - - SOX6 Gln365Lys Q365K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SOX6 Gln378Lys Q378K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - SOX7 Gly267Ser G267S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10706 0.00625817 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SP100 Met433Val M433V not reviewed Insufficiently evaluated not reviewed unknown Array rs12724 2654 10756 0.246746 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SP100 Glu699Gly E699G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.743 - - 6 Y 2 - 2 - - SP100 Ser855Cys S855C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SP100 Ser855Ile S855I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SP100 Ala796Thr A796T not reviewed Insufficiently evaluated not reviewed unknown Array rs17275036 656 9596 0.0683618 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SP100 Met826Thr M826T not reviewed Insufficiently evaluated not reviewed unknown Array rs836237 8096 9858 0.821262 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SP110 Met579Ile M579I not reviewed Insufficiently evaluated not reviewed unknown Array rs3948463 638 10758 0.0593047 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - SP110 Met523Thr M523T not reviewed Insufficiently evaluated not reviewed unknown Array rs1135791 4462 10758 0.414761 33 0 42 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SP110 Leu425Ser L425S pathogenic Low clinical importance, Uncertain pathogenic undefined Array rs3948464 9288 10758 0.863357 56 0 103 1 1 0 Y - - 4 Y 0 - 4 Y 4 Y Y Y - - - Y Y 6 Y 4 N 0 0 This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect. SP110 Thr367Met T367M not reviewed Insufficiently evaluated not reviewed unknown Array 205 10758 0.0190556 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 2 - - SP110 Gly299Arg G299R not reviewed Insufficiently evaluated not reviewed unknown Array rs1365776 7541 10750 0.701488 55 0 89 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - SP110 Glu207Lys E207K not reviewed Insufficiently evaluated not reviewed unknown Array rs9061 953 10758 0.0885852 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - SP110 Ala206Val A206V not reviewed Insufficiently evaluated not reviewed unknown Array rs28930679 2294 10758 0.213237 23 0 29 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SP110 Leu181Arg L181R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SP110 Ala128Val A128V not reviewed Insufficiently evaluated not reviewed unknown Array rs11556887 769 10758 0.0714817 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SP110 Trp112Arg W112R not reviewed Insufficiently evaluated not reviewed unknown Array rs1129411 9860 10758 0.916527 56 0 106 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - SP140 Leu356Phe L356F not reviewed Insufficiently evaluated not reviewed unknown Array rs3820975 1362 9726 0.140037 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SP140 Gln367Pro Q367P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SP140 Met512Thr M512T not reviewed Insufficiently evaluated not reviewed unknown Array rs4972945 814 9716 0.0837793 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SP140 Glu516Lys E516K not reviewed Insufficiently evaluated not reviewed unknown Array rs4972946 9163 9748 0.939988 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SP140 Cys756Arg C756R not reviewed Insufficiently evaluated not reviewed unknown Array 1687 8734 0.193153 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SP140L Met88Thr M88T not reviewed Insufficiently evaluated not reviewed unknown Array rs4973318 867 10602 0.081777 9 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - SP140L Thr225Met T225M not reviewed Insufficiently evaluated not reviewed unknown Array rs28497362 1465 9690 0.151187 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - SP140L Pro377Ser P377S not reviewed Insufficiently evaluated not reviewed unknown Array rs7590429 4192 9540 0.439413 36 0 51 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 1 N - - SP2 Ser380Pro S380P not reviewed Insufficiently evaluated not reviewed unknown Array rs62067380 1150 10758 0.106897 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - SP3 Thr164Ala T164A not reviewed Insufficiently evaluated not reviewed unknown Array rs1047640 931 10758 0.0865403 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - SP3 Thr96Ala T96A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SP5 Ala75Thr A75T not reviewed Insufficiently evaluated not reviewed unknown Array rs3749036 3891 10140 0.383728 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SP5 Glu289Val E289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 5 Y 2 N - - SP5 Lys382Gln K382Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73015354 1 122 0.00819672 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - -2 - 0 N - - SP9 Val183Met V183M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPACA3 Met182Val M182V not reviewed Insufficiently evaluated not reviewed unknown Array rs62068261 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SPAG1 Ser72Arg S72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPAG1 Glu331Lys E331K not reviewed Insufficiently evaluated not reviewed unknown Array rs17335870 1696 10758 0.15765 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPAG1 Met777Thr M777T not reviewed Insufficiently evaluated not reviewed unknown Array rs6511 6858 10758 0.637479 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPAG11A Leu76Pro L76P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPAG11A Ile78Met I78M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPAG11B His31Arg H31R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPAG11B His84Arg H84R not reviewed Insufficiently evaluated not reviewed unknown Array rs1042797 4420 10472 0.422078 18 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPAG11B Val35Met V35M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPAG11B Val88Met V88M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPAG11B Gln99Leu Q99L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPAG16 Tyr134Cys Y134C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SPAG16 Pro324Thr P324T not reviewed Insufficiently evaluated not reviewed unknown Array rs10167688 270 10752 0.0251116 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.365 - - 4 Y 1 N - - SPAG16 Gln361His Q361H not reviewed Insufficiently evaluated not reviewed unknown Array rs2042791 3551 10758 0.33008 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPAG16 Lys425Thr K425T not reviewed Insufficiently evaluated not reviewed unknown Array rs12623569 2873 10758 0.267057 33 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SPAG17 His2160Gln H2160Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729969 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SPAG17 Leu2036Gln L2036Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729968 497 10758 0.0461982 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPAG17 Ala2003Gly A2003G not reviewed Insufficiently evaluated not reviewed unknown Array rs74114950 291 10758 0.0270496 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPAG17 Ile1689Val I1689V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -4 - 2 N - - SPAG17 Pro1348Leu P1348L not reviewed Insufficiently evaluated not reviewed unknown Array rs10923472 3903 10758 0.3628 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 1 N - - SPAG17 Ser1007Cys S1007C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - SPAG17 Glu158Val E158V not reviewed Insufficiently evaluated not reviewed unknown Array rs17185492 1586 10758 0.147425 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - SPAG17 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12133381 448 10756 0.0416512 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SPAG4 Thr282Ile T282I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - SPAG4L Ala174Thr A174T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPAG4L Glu39Asp E39D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPAG6 Gln216Arg Q216R not reviewed Insufficiently evaluated not reviewed unknown Array rs7074847 1972 10758 0.183305 20 0 30 0 0 - - - - - - - - - - - - - - - - 0.422 - - 0 - 0 N - - SPAG7 Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array rs73343382 291 10146 0.0286813 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SPAG8 Gln429Pro Q429P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPAG8 Tyr272Cys Y272C not reviewed Insufficiently evaluated not reviewed unknown Array rs41277075 460 10758 0.0427589 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - SPAG8 Gly200Ser G200S not reviewed Insufficiently evaluated not reviewed unknown Array rs28546946 137 10758 0.0127347 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPAG8 Ser179Pro S179P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPAG9 Asn1306Ser N1306S not reviewed Insufficiently evaluated not reviewed unknown Array rs9896965 12 128 0.09375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPAG9 Asn1320Ser N1320S not reviewed Insufficiently evaluated not reviewed unknown Array rs9896965 882 10758 0.0819855 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPAM1 Val47Ala V47A not reviewed Insufficiently evaluated not reviewed unknown Array rs34633019 291 10758 0.0270496 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.747 - - 2 - 1 N - - SPANXN1 Thr29Ala T29A not reviewed Insufficiently evaluated not reviewed unknown Array 44 8759 0.0050234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - SPANXN2 Thr8Ile T8I not reviewed Insufficiently evaluated not reviewed unknown Array 465 8761 0.0530761 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.184 - - 3 - 0 N - - SPANXN3 Lys43Asn K43N not reviewed Insufficiently evaluated not reviewed unknown Array rs6654212 1252 8761 0.142906 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - SPANXN4 Lys48Asn K48N not reviewed Insufficiently evaluated not reviewed unknown Array rs10482390 303 7724 0.0392284 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.312 - - 1 - 1 N - - SPARC Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array rs6874468 291 10758 0.0270496 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - SPARCL1 Thr419Ala T419A not reviewed Insufficiently evaluated not reviewed unknown Array rs1130643 2588 10758 0.240565 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPARCL1 Val253Glu V253E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731012 457 10758 0.04248 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPARCL1 His106Asp H106D not reviewed Insufficiently evaluated not reviewed unknown Array rs1049544 5600 10758 0.520543 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPARCL1 Glu50Gly E50G not reviewed Insufficiently evaluated not reviewed unknown Array rs57367731 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPARCL1 Ala49Asp A49D not reviewed Insufficiently evaluated not reviewed unknown Array rs13051 5598 10758 0.520357 42 0 67 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SPATA1 Lys265Glu K265E not reviewed Insufficiently evaluated not reviewed unknown Array rs12143652 2509 10756 0.233265 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPATA1 Arg364Gln R364Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 9506 0.012308 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - SPATA13 Arg20Trp R20W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPATA13 Ser145Gly S145G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPATA16 Glu221Gln E221Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - SPATA16 Gly147Glu G147E not reviewed Insufficiently evaluated not reviewed unknown Array rs16846616 995 10758 0.0924893 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 1 N - - SPATA16 Met133Val M133V not reviewed Insufficiently evaluated not reviewed unknown Array rs1515442 4337 10758 0.403142 41 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPATA16 Glu78Lys E78K not reviewed Insufficiently evaluated not reviewed unknown Array rs1515441 1239 10758 0.11517 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 0 N - - SPATA17 Asn16Ser N16S not reviewed Insufficiently evaluated not reviewed unknown Array rs34652544 367 10758 0.0341141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SPATA17 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - 1 - 1 N - - SPATA18 Ile57Phe I57F not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - SPATA18 Thr145Ile T145I not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.902 - - 3 - 2 N - - SPATA18 Ser227Pro S227P not reviewed Insufficiently evaluated not reviewed unknown Array rs3860707 5180 10758 0.481502 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - SPATA18 Pro260Ser P260S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - SPATA19 Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPATA19 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array rs2282602 3249 10758 0.302008 22 0 28 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 0 N - - SPATA2 Leu443Phe L443F not reviewed Insufficiently evaluated not reviewed unknown Array rs2072985 33 10758 0.00306748 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - SPATA20 Gln104Glu Q104E not reviewed Insufficiently evaluated not reviewed unknown Array rs8076632 4901 10756 0.455653 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SPATA20 Arg410Trp R410W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10752 0.00120908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPATA20 Lys422Arg K422R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621401 423 10758 0.0393196 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SPATA20 Val493Met V493M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPATA20 Ser499Thr S499T not reviewed Insufficiently evaluated not reviewed unknown Array rs9913430 4476 10756 0.41614 37 0 53 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SPATA20 Lys625Arg K625R not reviewed Insufficiently evaluated not reviewed unknown Array rs8065903 8760 10758 0.814278 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SPATA21 Ser316Phe S316F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 5 Y 1 N - - SPATA21 His305Gln H305Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41269193 548 10758 0.0509388 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.881 - - -1 - 1 N - - SPATA21 Val255Leu V255L not reviewed Insufficiently evaluated not reviewed unknown Array rs525409 2430 10758 0.225878 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPATA21 Gln184Arg Q184R not reviewed Insufficiently evaluated not reviewed unknown Array rs4661746 2496 10758 0.232013 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SPATA22 Ile308Leu I308L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - SPATA22 Ile160Thr I160T not reviewed Insufficiently evaluated not reviewed unknown Array rs1488689 2216 10758 0.205986 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPATA22 Gln155Arg Q155R not reviewed Insufficiently evaluated not reviewed unknown Array rs11556563 3932 10758 0.365495 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 0 N - - SPATA22 Val148Met V148M not reviewed Insufficiently evaluated not reviewed unknown Array rs1488690 2214 10758 0.2058 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPATA22 Arg112Thr R112T not reviewed Insufficiently evaluated not reviewed unknown Array rs2291604 492 10752 0.0457589 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 3 - - SPATA3 Ile104Thr I104T not reviewed Insufficiently evaluated not reviewed unknown Array rs2271376 1275 3234 0.394249 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPATA3 Cys122Ser C122S not reviewed Insufficiently evaluated not reviewed unknown Array rs12105962 776 3234 0.239951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPATA4 Lys303Asn K303N not reviewed Insufficiently evaluated not reviewed unknown Array rs73005175 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.421 - - 1 - 1 N - - SPATA4 Phe85Val F85V not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.916 - - 3 - 2 N - - SPATA5 Cys27Ser C27S not reviewed Insufficiently evaluated not reviewed unknown Array rs35430470 527 10758 0.0489868 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATA5 Ile256Thr I256T not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATA5 Gly299Val G299V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPATA5 Arg539Met R539M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 4 Y 0 N - - SPATA5L1 Arg119Pro R119P not reviewed Insufficiently evaluated not reviewed unknown Array rs1153850 1226 10220 0.119961 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SPATA5L1 Arg252Gln R252Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7182723 1105 5484 0.201495 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.928 - - 0 - 1 N - - SPATA6 Cys478Tyr C478Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1056042 3286 10758 0.305447 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - SPATA6 Arg333Trp R333W not reviewed Insufficiently evaluated not reviewed unknown Array rs1338314 308 10758 0.0286299 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 7 Y 1 N - - SPATA6 Glu228Lys E228K not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SPATA7 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array rs4904448 3110 10726 0.28995 12 0 11 0 0 - - - - - - - - - - - - Y - - - 0.665 Y Y -1 - 2 N - - SPATA7 Val42Met V42M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPATA7 Val74Met V74M not reviewed Insufficiently evaluated not reviewed unknown Array rs3179969 4475 10756 0.416047 47 0 61 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - SPATA7 Gln63Arg Q63R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPATA7 Gln95Arg Q95R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747004 499 10752 0.04641 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPATA7 Phe119Leu F119L not reviewed Insufficiently evaluated not reviewed unknown Array rs35137272 476 10716 0.0444196 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 0 - 2 N - - SPATA7 Phe87Leu F87L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPATA7 Ser133Asn S133N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPATA7 Ser165Asn S165N not reviewed Insufficiently evaluated not reviewed unknown Array rs17124662 504 10758 0.0468489 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - SPATA7 Ser186Leu S186L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SPATA7 Ser218Leu S218L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.824 Y Y 6 Y 3 N - - SPATA7 Gly292Glu G292E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SPATA7 Gly324Glu G324E not reviewed Insufficiently evaluated not reviewed unknown Array rs17124677 500 10758 0.046477 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.868 Y Y 6 Y 5 - 1 - - SPATA7 Arg502Gln R502Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPATA7 Arg534Gln R534Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10139784 536 10758 0.0498234 6 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - SPATA8 Arg34Stop R34X not reviewed Insufficiently evaluated not reviewed unknown Array rs3812907 919 10758 0.0854248 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SPATA8 Pro43Thr P43T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPATC1 Gly237Arg G237R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SPATS1 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array rs10948132 2452 10758 0.227923 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 1 N - - SPCS1 Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array rs6617 1387 3226 0.429944 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPDEF Asn142Ser N142S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - SPDEF Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs2233639 627 10758 0.0582822 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPDEF Pro13Arg P13R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233637 557 10538 0.0528563 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SPDYE1 Cys278Arg C278R not reviewed Insufficiently evaluated not reviewed unknown Array 4093 10756 0.380532 5 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 1 N - - SPDYE4 Val211Ile V211I not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPDYE4 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 239 3234 0.0739023 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPDYE4 Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array rs34694079 26 3234 0.00803958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPDYE5 Arg247Pro R247P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - SPDYE5 Arg335His R335H not reviewed Insufficiently evaluated not reviewed unknown Array 4691 4740 0.989662 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SPEF2 Asn71His N71H not reviewed Insufficiently evaluated not reviewed unknown Array rs6897513 6397 10758 0.594627 45 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPEF2 Glu116Lys E116K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.789 - - 0 - 1 N - - SPEF2 Arg447Gln R447Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34852821 95 10756 0.00883228 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 3 - - SPEF2 Asp500Asn D500N not reviewed Insufficiently evaluated not reviewed unknown Array rs34708521 740 10758 0.068786 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.334 - - -1 - 0 N - - SPEF2 Asn616Lys N616K not reviewed Insufficiently evaluated not reviewed unknown Array rs7710284 2485 9560 0.259937 31 0 45 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SPEF2 Ala904Val A904V not reviewed Insufficiently evaluated not reviewed unknown Array rs13170082 7373 9678 0.761831 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPEF2 Ala934Pro A934P not reviewed Insufficiently evaluated not reviewed unknown Array rs13170390 7318 9614 0.761182 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPEF2 Arg1123Gln R1123Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - SPEF2 Arg1473Gln R1473Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9648 0.000207296 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 0 - 1 N - - SPEF2 Lys1482Asn K1482N not reviewed Insufficiently evaluated not reviewed unknown Array rs2277044 504 9622 0.05238 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 1 N - - SPEG Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array rs55821435 123 9918 0.0124017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SPEG Arg966Gln R966Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34861443 189 10162 0.0185987 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SPEG Pro2189Leu P2189L not reviewed Insufficiently evaluated not reviewed unknown Array rs10755037 2571 10230 0.25132 19 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SPEG Tyr2575Ser Y2575S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPEG Pro2687Thr P2687T not reviewed Insufficiently evaluated not reviewed unknown Array rs13026308 928 10052 0.0923199 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SPEG Ser2774Tyr S2774Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPEG Arg2790Gly R2790G not reviewed Insufficiently evaluated not reviewed unknown Array rs55760516 3672 9822 0.373855 37 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPEG His3079Arg H3079R not reviewed Insufficiently evaluated not reviewed unknown Array rs12464085 4119 10510 0.391912 41 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPEM1 Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33989543 662 9874 0.0670448 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - SPEN Ala970Val A970V not reviewed Insufficiently evaluated not reviewed unknown Array rs848208 882 10758 0.0819855 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.078 - - 2 - 0 N - - SPEN Leu1091Val L1091V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SPEN Leu1091Pro L1091P not reviewed Insufficiently evaluated not reviewed unknown Array rs848209 7447 10758 0.692229 43 0 69 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SPEN Asn2360Asp N2360D not reviewed Insufficiently evaluated not reviewed unknown Array rs848210 7467 10758 0.694088 44 0 72 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPEN Asn2593Ser N2593S not reviewed Insufficiently evaluated not reviewed unknown Array 460 10758 0.0427589 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPERT Cys71Stop C71X not reviewed Insufficiently evaluated not reviewed unknown Array 833 10750 0.0774884 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SPERT Ser286Stop S286X not reviewed Insufficiently evaluated not reviewed unknown Array 385 9390 0.0410011 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPERT Lys329Glu K329E not reviewed Insufficiently evaluated not reviewed unknown Array rs7317245 5859 9782 0.598957 34 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPESP1 Leu133Phe L133F not reviewed Insufficiently evaluated not reviewed unknown Array rs3743091 678 10758 0.0630229 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - SPESP1 Gly191Glu G191E not reviewed Insufficiently evaluated not reviewed unknown Array rs3743093 6444 10758 0.598996 48 0 70 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPG11 Lys2306Arg K2306R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SPG11 Lys2419Arg K2419R not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SPG11 Arg1563Gly R1563G not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SPG11 Lys1013Glu K1013E pathogenic High clinical importance, Uncertain pathogenic recessive Array 112 10758 0.0104109 1 0 1 0 0 - - - - 0 Y 0 Y 4 Y 1 - Y - - - - Y Y 0 - 4 - 1 2 0 One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense). SPG11 Phe463Ser F463S not reviewed Insufficiently evaluated not reviewed unknown Array rs3759871 5164 10758 0.480015 49 0 66 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 - 2 - - SPG7 Arg474Trp R474W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SPG7 Thr503Ala T503A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2292954 1530 10758 0.14222 15 0 17 1 1 - - - - - - - - - - - - Y - - Y 0.001 Y Y 1 - 4 N 3 - - SPG7 Arg688Gln R688Q pharmacogenetic Insufficiently evaluated pharmacogenetic recessive Array rs12960 1528 10756 0.14206 15 0 16 3 3 2 Y 0 Y 4 Y 0 Y 3 Y 3 Y Y - - Y 0.203 Y Y 0 - Spastic Paraplegia 7 5 65 24 76 0.244 4 N 3 - - The SPG7 gene (spastic paraplegia 7) encodes the mitochondrial protein paraplegin. Mutations in this gene are associated with hereditary spastic paraplegia (HSP), which is characterized by progressive stiffness and weakness in the lower limbs. The gene is located on Chromosome 16 and consists of 17 exons spanning 52kb. This is the only gene in which mutations are known to cause hereditary spastic paraplegia. Alleles are inherited in an autosomal recessive manner. The R688Q mutation is a single nucleotide polymorphism at exon 15. The polymorphism changes the ancestral allele, G, to an A at base pair 2063. This allele is also known as rs12960, which was shown to be associated with toxicity responses to chemotherapy drugs such as Docetaxel. SPHK1 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array rs2247856 2573 8498 0.302777 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPHK1 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array rs346803 7583 8454 0.896972 49 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPHK2 Gly21Arg G21R not reviewed Insufficiently evaluated not reviewed unknown Array 581 10734 0.0541271 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPHK2 Arg652Gln R652Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11881285 579 10702 0.054102 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 6 - - SPHK2 Pro654His P654H not reviewed Insufficiently evaluated not reviewed unknown Array 49 10696 0.00458115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPHKAP Ser1574Arg S1574R not reviewed Insufficiently evaluated not reviewed unknown Array rs16824283 21 124 0.169355 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPHKAP Ser1603Arg S1603R not reviewed Insufficiently evaluated not reviewed unknown Array rs16824283 2134 10758 0.198364 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 1 N - - SPHKAP Gln867Arg Q867R not reviewed Insufficiently evaluated not reviewed unknown Array rs3828161 2215 10758 0.205893 27 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SPHKAP His847Gln H847Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3811515 2042 10758 0.189812 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.966 - - -1 - 1 N - - SPHKAP Lys617Glu K617E not reviewed Insufficiently evaluated not reviewed unknown Array rs3811514 6285 10756 0.584325 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPI1 Gly156Arg G156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - SPI1 Gly157Arg G157R not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPIB Ala104Pro A104P not reviewed Insufficiently evaluated not reviewed unknown Array rs1673030 5984 10702 0.559148 24 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - SPIC Lys109Arg K109R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748064 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.144 - - -3 - 0 N - - SPIN2A Arg46Cys R46C not reviewed Insufficiently evaluated not reviewed unknown Array rs2003812 3119 3296 0.946299 14 0 28 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - SPIN3 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - SPINK4 Val7Ile V7I not reviewed Insufficiently evaluated not reviewed unknown Array rs706107 4015 10756 0.37328 36 0 48 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SPINK5 Gly40Ala G40A not reviewed Insufficiently evaluated not reviewed unknown Array rs73269156 108 9496 0.0113732 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SPINK5 Asp106Asn D106N not reviewed Insufficiently evaluated not reviewed unknown Array rs17860502 219 9596 0.022822 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SPINK5 Gln267Arg Q267R not reviewed Insufficiently evaluated not reviewed unknown Array rs6892205 4630 9452 0.489843 38 0 50 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - SPINK5 Ala335Val A335V not reviewed Insufficiently evaluated not reviewed unknown Array rs34482796 4240 9640 0.439834 33 0 45 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - SPINK5 Ser368Asn S368N not reviewed Insufficiently evaluated not reviewed unknown Array rs2303063 4194 9798 0.428047 31 0 42 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - SPINK5 Asp386Asn D386N not reviewed Insufficiently evaluated not reviewed unknown Array rs2303064 2264 10002 0.226355 28 0 36 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 4 - - SPINK5 Lys420Glu K420E not reviewed Insufficiently evaluated not reviewed unknown Array rs2303067 4154 9594 0.432979 33 0 44 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - SPINK5 Arg711Gln R711Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3777134 5318 9758 0.544989 41 0 55 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - SPINK5 Glu825Asp E825D not reviewed Insufficiently evaluated not reviewed unknown Array rs2303070 958 9622 0.0995635 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - SPINK5 Ser887Arg S887R not reviewed Insufficiently evaluated not reviewed unknown Array rs28408445 417 9690 0.0430341 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SPINK5 Asn921Ser N921S not reviewed Insufficiently evaluated not reviewed unknown Array rs73271166 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SPINK5 Asn951Ser N951S not reviewed Insufficiently evaluated not reviewed unknown Array 129 9788 0.0131794 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SPINK6 Pro36Thr P36T not reviewed Insufficiently evaluated not reviewed unknown Array rs12186491 7927 10758 0.736847 47 0 70 0 0 - - - - - - - - - - - - - - - - 0.078 - - 4 Y 0 N - - SPINK8 Lys78Asn K78N not reviewed Insufficiently evaluated not reviewed unknown Array rs11718350 2222 9808 0.22655 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.059 - - 1 - 0 N - - SPINLW1 His76Arg H76R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPINLW1 His92Arg H92R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231838 617 10758 0.0573527 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - SPINT1 Ala114Thr A114T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPINT1 Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array rs7165897 200 10758 0.0185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SPINT1 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 2 - 3 - - SPINT1 Ser444Asn S444N not reviewed Insufficiently evaluated not reviewed unknown Array rs73400524 211 10758 0.0196133 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPINT1 Ser460Asn S460N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPINT2 Val200Leu V200L not reviewed Insufficiently evaluated not reviewed unknown Array rs11548457 262 10758 0.024354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 1 - 3 - - SPINT3 Leu77Ser L77S not reviewed Insufficiently evaluated not reviewed unknown Array rs6032259 1702 3234 0.526283 42 0 54 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPINT4 Ala30Glu A30E not reviewed Insufficiently evaluated not reviewed unknown Array rs16990631 410 10758 0.0381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.469 - - 3 - 1 N - - SPINT4 Gly73Ser G73S not reviewed Insufficiently evaluated not reviewed unknown Array rs6017667 4989 10758 0.463748 36 0 48 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - SPN Thr22Ile T22I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229653 301 10758 0.0279792 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - SPNS1 Gly19Arg G19R not reviewed Insufficiently evaluated not reviewed unknown Array 106 9850 0.0107614 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - SPNS1 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array 76 10168 0.00747443 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SPNS3 Gly293Arg G293R not reviewed Insufficiently evaluated not reviewed unknown Array rs34457931 983 10758 0.0913739 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SPNS3 Ala330Ser A330S not reviewed Insufficiently evaluated not reviewed unknown Array rs11655342 2837 10758 0.263711 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPO11 Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array rs28368062 235 10754 0.0218523 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SPOCD1 Pro1089Ser P1089S not reviewed Insufficiently evaluated not reviewed unknown Array rs35252813 252 10746 0.0234506 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 2 N - - SPOCD1 Gly813Arg G813R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SPOCD1 Gln724Stop Q724X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPOCD1 Arg436Trp R436W not reviewed Insufficiently evaluated not reviewed unknown Array rs6669563 3875 10758 0.360197 36 0 40 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 1 N - - SPOCD1 Gln355Arg Q355R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10686 0.00561482 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 0 - 1 N - - SPOCD1 Thr349Ala T349A not reviewed Insufficiently evaluated not reviewed unknown Array 58 10702 0.00541955 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - 1 - 1 N - - SPOCD1 Pro189Leu P189L not reviewed Insufficiently evaluated not reviewed unknown Array rs35533335 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - SPOCD1 Thr109Ala T109A not reviewed Insufficiently evaluated not reviewed unknown Array rs6664445 7198 10758 0.669083 53 0 76 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SPOCD1 Arg71Trp R71W not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - SPOCK1 Asn37Ser N37S not reviewed Insufficiently evaluated not reviewed unknown Array 99 10756 0.00920417 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - SPOCK2 Asp375Asn D375N not reviewed Insufficiently evaluated not reviewed unknown Array rs58176786 6 10602 0.00056593 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.699 - - -1 - 1 N - - SPOCK2 Thr268Met T268M not reviewed Insufficiently evaluated not reviewed unknown Array rs56695392 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.214 - - 2 - 2 - 1 - - SPOCK3 Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - SPOCK3 Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array rs9685645 381 10758 0.0354155 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 4 - - SPON1 Asn288Ser N288S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303973 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPON2 Val242Leu V242L not reviewed Insufficiently evaluated not reviewed unknown Array rs2279279 5789 10758 0.538111 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPON2 Ala122Glu A122E not reviewed Insufficiently evaluated not reviewed unknown Array rs11247975 5747 10246 0.560902 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPON2 Leu40Pro L40P not reviewed Insufficiently evaluated not reviewed unknown Array rs922697 10259 10748 0.954503 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SPON2 Arg38Gly R38G not reviewed Insufficiently evaluated not reviewed unknown Array rs6836335 1907 10746 0.177461 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPP1 Ser197Asn S197N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPP1 Ser210Asn S210N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPP1 Ser224Asn S224N not reviewed Insufficiently evaluated not reviewed unknown Array rs7435825 535 10758 0.0497304 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - SPP1 Arg274His R274H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPP1 Arg287His R287H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPP1 Arg301His R301H not reviewed Insufficiently evaluated not reviewed unknown Array rs4660 295 10758 0.0274215 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - SPP2 Glu142Ala E142A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.887 - - 3 - 2 N - - SPPL2A Gln4His Q4H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPPL2B Thr421Ile T421I not reviewed Insufficiently evaluated not reviewed unknown Array rs28602188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPPL2B Ser549Gly S549G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPPL2B Pro574Gln P574Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPRED3 Ser125Thr S125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - -2 - 1 N - - SPRED3 Gly211Glu G211E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - 6 Y 2 N - - SPRN Thr7Met T7M not reviewed Insufficiently evaluated not reviewed unknown Array rs2492666 3103 5700 0.544386 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 0 N - - SPRR1A His42Gln H42Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1611762 5498 10758 0.511062 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPRR1A Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array rs1611764 6156 10758 0.572225 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SPRR1A Gln66His Q66H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPRR1B Thr11Ile T11I not reviewed Insufficiently evaluated not reviewed unknown Array rs3795382 5329 10758 0.495352 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPRR2D Thr20Ala T20A not reviewed Insufficiently evaluated not reviewed unknown Array rs1846857 191 10676 0.0178906 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SPRR2F Pro61Thr P61T not reviewed Insufficiently evaluated not reviewed unknown Array rs74133286 185 10754 0.0172029 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPRR2F Cys54Tyr C54Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74133288 116 10758 0.0107827 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPRR3 Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - SPRR3 Leu149Val L149V not reviewed Insufficiently evaluated not reviewed unknown Array rs1055935 6354 10758 0.59063 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPRR4 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array 508 10758 0.0472207 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPRR4 Pro45Ser P45S not reviewed Insufficiently evaluated not reviewed unknown Array rs16834786 515 10758 0.0478714 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPRY2 Pro106Ser P106S not reviewed Insufficiently evaluated not reviewed unknown Array rs504122 2814 10758 0.261573 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPRYD4 Met50Thr M50T not reviewed Insufficiently evaluated not reviewed unknown Array rs2657881 10682 10758 0.992935 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPRYD5 Asn20Ser N20S not reviewed Insufficiently evaluated not reviewed unknown Array rs2063276 2018 3210 0.62866 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPRYD5 Leu23Ile L23I not reviewed Insufficiently evaluated not reviewed unknown Array rs2063277 3184 3226 0.986981 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SPRYD5 Ser87Asn S87N not reviewed Insufficiently evaluated not reviewed unknown Array rs10897403 1022 3232 0.316213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPRYD5 Glu89Lys E89K not reviewed Insufficiently evaluated not reviewed unknown Array 46 3230 0.0142415 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPRYD5 Gln334Pro Q334P not reviewed Insufficiently evaluated not reviewed unknown Array 480 9896 0.0485044 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPRYD5 Glu375Gly E375G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPRYD5 Cys382Arg C382R not reviewed Insufficiently evaluated not reviewed unknown Array 206 10066 0.0204649 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPRYD5 Asn436Asp N436D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10526 9.5002e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPSB3 Ser80Phe S80F not reviewed Insufficiently evaluated not reviewed unknown Array rs73483721 35 10742 0.00325824 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.106 - - 5 Y 0 N - - SPTA1 Lys2368Asn K2368N not reviewed Insufficiently evaluated not reviewed unknown Array 14 9868 0.00141873 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTA1 Ile2265Thr I2265T not reviewed Insufficiently evaluated not reviewed unknown Array rs952094 4835 9438 0.512291 45 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPTA1 Ala2012Thr A2012T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTA1 Leu1858Val L1858V not reviewed Insufficiently evaluated not reviewed unknown Array rs3737515 2399 9594 0.250052 28 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPTA1 Lys1693Gln K1693Q not reviewed Insufficiently evaluated not reviewed unknown Array rs857725 2149 9746 0.220501 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SPTA1 Cys1568Arg C1568R not reviewed Insufficiently evaluated not reviewed unknown Array rs863931 6073 10030 0.605484 52 0 75 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SPTA1 Ser1163Ala S1163A not reviewed Insufficiently evaluated not reviewed unknown Array rs2482965 9580 9634 0.994395 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPTA1 Ala970Asp A970D benign Low clinical importance, Uncertain benign undefined Array rs35948326 370 9916 0.0373134 3 0 3 4 4 0 Y 1 Y 0 Y - - - - - - - Y - - - - - 5 Y 3 N 0 0 This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral. SPTA1 Thr853Arg T853R not reviewed Insufficiently evaluated not reviewed unknown Array rs35121052 958 9910 0.09667 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPTA1 Glu840Asp E840D not reviewed Insufficiently evaluated not reviewed unknown Array rs34577746 119 9876 0.0120494 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPTA1 Ile809Val I809V not reviewed Insufficiently evaluated not reviewed unknown Array rs7547313 924 9886 0.0934655 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SPTA1 Asp791Glu D791E not reviewed Insufficiently evaluated not reviewed unknown Array rs7418956 144 9880 0.0145749 2 0 2 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - SPTA1 Arg701His R701H not reviewed Insufficiently evaluated not reviewed unknown Array rs12090314 822 10006 0.0821507 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTA1 Glu11Asp E11D not reviewed Insufficiently evaluated not reviewed unknown Array 42 9672 0.00434243 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPTB Gly1408Arg G1408R not reviewed Insufficiently evaluated not reviewed unknown Array rs17245552 648 10758 0.0602342 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPTB Arg1403Gln R1403Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17180350 624 10758 0.0580033 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPTB His1374Arg H1374R not reviewed Insufficiently evaluated not reviewed unknown Array rs10132778 402 10758 0.0373675 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SPTB Asn1151Asp N1151D not reviewed Insufficiently evaluated not reviewed unknown Array rs77806 4392 10758 0.408254 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPTB Ala705Val A705V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPTB Arg687His R687H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SPTB Ser613Ile S613I not reviewed Insufficiently evaluated not reviewed unknown Array rs3742601 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPTB Ala589Thr A589T not reviewed Insufficiently evaluated not reviewed unknown Array rs61459051 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTB Glu525Lys E525K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SPTB Ser439Asn S439N not reviewed Insufficiently evaluated not reviewed unknown Array rs229587 4748 10758 0.441346 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPTBN2 Val1034Ala V1034A not reviewed Insufficiently evaluated not reviewed unknown Array rs506028 1615 10746 0.150288 20 0 21 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 2 - 1 N - - SPTBN2 Ser825Gly S825G not reviewed Insufficiently evaluated not reviewed unknown Array rs4930388 10530 10670 0.986879 47 0 91 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - SPTBN4 Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array rs73931308 2173 10746 0.202215 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTBN4 Gly1331Ser G1331S not reviewed Insufficiently evaluated not reviewed unknown Array rs814501 5250 10758 0.488009 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPTBN4 Gly7Ser G7S not reviewed Insufficiently evaluated not reviewed unknown Array rs814501 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPTBN4 Arg1570Cys R1570C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPTBN4 Arg246Cys R246C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPTBN4 Pro2211Ser P2211S not reviewed Insufficiently evaluated not reviewed unknown Array 386 5632 0.0685369 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPTBN4 Ala2464Gly A2464G not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTBN5 Asn3529Thr N3529T not reviewed Insufficiently evaluated not reviewed unknown Array rs1197665 8326 9164 0.908555 37 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTBN5 Ala3240Gly A3240G not reviewed Insufficiently evaluated not reviewed unknown Array rs1197660 3626 10044 0.361012 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTBN5 Tyr2922His Y2922H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733880 492 10304 0.0477484 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPTBN5 Gln2827Arg Q2827R not reviewed Insufficiently evaluated not reviewed unknown Array rs1456235 4223 10164 0.415486 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPTBN5 Gln2816Glu Q2816E not reviewed Insufficiently evaluated not reviewed unknown Array rs12442525 3685 10338 0.356452 23 0 37 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SPTBN5 Gly2786Arg G2786R not reviewed Insufficiently evaluated not reviewed unknown Array rs1197675 3157 10154 0.310912 27 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPTBN5 Thr2678Ile T2678I not reviewed Insufficiently evaluated not reviewed unknown Array rs890503 3261 10576 0.30834 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPTBN5 Arg2427Trp R2427W not reviewed Insufficiently evaluated not reviewed unknown Array rs16972193 922 10256 0.0898986 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SPTBN5 Arg2081Gln R2081Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2290553 1523 8646 0.176151 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPTBN5 His1877Arg H1877R not reviewed Insufficiently evaluated not reviewed unknown Array rs8034735 728 10294 0.0707208 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTBN5 Arg1848Stop R1848X not reviewed Insufficiently evaluated not reviewed unknown Array rs61750839 222 9824 0.0225977 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPTBN5 Arg1525His R1525H not reviewed Insufficiently evaluated not reviewed unknown Array rs12593397 3346 10138 0.330045 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTBN5 Arg1310His R1310H not reviewed Insufficiently evaluated not reviewed unknown Array rs2290559 2452 10568 0.232021 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTBN5 Val1025Ile V1025I not reviewed Insufficiently evaluated not reviewed unknown Array rs12708402 2328 10272 0.226636 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SPTBN5 His1018Tyr H1018Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1197682 941 10198 0.092273 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPTBN5 Cys1000Arg C1000R not reviewed Insufficiently evaluated not reviewed unknown Array rs1197683 8709 10110 0.861424 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SPTBN5 Asp409Gly D409G not reviewed Insufficiently evaluated not reviewed unknown Array rs2280016 360 9758 0.0368928 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPTBN5 His398Arg H398R not reviewed Insufficiently evaluated not reviewed unknown Array rs1210795 8046 9518 0.845346 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPTLC3 Leu140Val L140V not reviewed Insufficiently evaluated not reviewed unknown Array rs243887 7601 9540 0.796751 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPTY2D1 Lys617Arg K617R not reviewed Insufficiently evaluated not reviewed unknown Array rs35411689 659 10758 0.0612567 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.597 - - -3 - 0 N - - SPZ1 Glu9Lys E9K not reviewed Insufficiently evaluated not reviewed unknown Array rs56226654 162 9960 0.0162651 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.703 - - 0 - 1 N - - SPZ1 Val17Leu V17L not reviewed Insufficiently evaluated not reviewed unknown Array rs1862136 7189 9894 0.726602 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPZ1 Pro23Thr P23T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 4 Y 1 - 1 - - SPZ1 Met170Ile M170I not reviewed Insufficiently evaluated not reviewed unknown Array rs2047589 692 9464 0.0731192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SPZ1 His301Pro H301P not reviewed Insufficiently evaluated not reviewed unknown Array rs35337118 1377 9780 0.140798 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - SPZ1 Glu302Lys E302K not reviewed Insufficiently evaluated not reviewed unknown Array rs6867419 95 9780 0.0097137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 3 - - SQLE Cys506Arg C506R not reviewed Insufficiently evaluated not reviewed unknown Array rs6989548 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SQLE Arg531Cys R531C not reviewed Insufficiently evaluated not reviewed unknown Array rs2293985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SQRDL Ile264Thr I264T not reviewed Insufficiently evaluated not reviewed unknown Array rs1044032 1869 10758 0.173731 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.468 - - 3 - 0 N - - SQSTM1 Glu190Asp E190D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - SQSTM1 Glu274Asp E274D not reviewed Insufficiently evaluated not reviewed unknown Array 190 10756 0.0176646 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -2 - 1 N - - SQSTM1 Glu235Lys E235K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SQSTM1 Glu319Lys E319K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748794 152 10722 0.0141765 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SR140 Glu102Stop E102X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SRBD1 Lys811Arg K811R not reviewed Insufficiently evaluated not reviewed unknown Array rs3755072 1019 10758 0.0947202 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 1 N - - SRBD1 Val798Phe V798F not reviewed Insufficiently evaluated not reviewed unknown Array rs3755073 1814 10758 0.168619 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - SRBD1 Gln191His Q191H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - -1 - 2 N - - SRCAP Ser1468Leu S1468L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - SRCAP Arg1903Trp R1903W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SRCAP Thr2784Pro T2784P not reviewed Insufficiently evaluated not reviewed unknown Array rs73538429 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRCRB4D Arg543His R543H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - SRCRB4D Arg505Gln R505Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10227141 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SRCRB4D Thr178Met T178M not reviewed Insufficiently evaluated not reviewed unknown Array rs73361545 655 10758 0.0608849 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 0 N - - SRCRB4D Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array rs4728712 1760 10754 0.16366 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.165 - - 1 - 0 N - - SRCRB4D Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9866 0.000101358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SRD5A3 His309Asp H309D not reviewed Insufficiently evaluated not reviewed unknown Array rs61733673 172 10758 0.0159881 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.944 - - 3 - 2 N - - SREBF1 Ala309Thr A309T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 1 - 3 - - SREBF1 Ala339Thr A339T not reviewed Insufficiently evaluated not reviewed unknown Array rs35188700 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SREBF2 Gly595Ala G595A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228314 3988 10758 0.370701 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SREBF2 Val623Met V623M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229440 254 10758 0.0236103 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - SREBF2 Arg860Ser R860S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228313 657 10758 0.0610708 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SREBF2 Phe1095Leu F1095L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 1 N - - SREBF2 Phe1095Ser F1095S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - SRGAP2 Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRGAP2 Asp77His D77H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRGAP2 Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRGAP2 Ser149Pro S149P not reviewed Insufficiently evaluated not reviewed unknown Array rs2919105 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRGAP2 Gly420Ser G420S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRGAP2 Val661Ile V661I not reviewed Insufficiently evaluated not reviewed unknown Array rs11120575 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SRGAP2 Arg874Gly R874G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRGAP3 Ile604Val I604V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - SRGAP3 Ile628Val I628V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - SRGN Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229498 7507 10758 0.697806 46 0 73 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRGN Pro68Arg P68R not reviewed Insufficiently evaluated not reviewed unknown Array rs67852477 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SRL Glu84Asp E84D not reviewed Insufficiently evaluated not reviewed unknown Array 63 10312 0.00610939 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - SRMS Val457Leu V457L not reviewed Insufficiently evaluated not reviewed unknown Array rs310654 1821 10754 0.169332 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRMS Ala453Thr A453T not reviewed Insufficiently evaluated not reviewed unknown Array rs310655 1717 10746 0.15978 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - SRMS Pro452Leu P452L not reviewed Insufficiently evaluated not reviewed unknown Array rs8120713 1272 10746 0.11837 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - SRMS Ala397Val A397V not reviewed Insufficiently evaluated not reviewed unknown Array rs6011889 1115 10758 0.103644 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 1 N - - SRMS Val301Leu V301L not reviewed Insufficiently evaluated not reviewed unknown Array rs310657 1312 10750 0.122047 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.553 - - 0 - 0 N - - SRMS Val255Met V255M not reviewed Insufficiently evaluated not reviewed unknown Array rs34969822 471 10742 0.0438466 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 3 - 4 - - SRMS Pro218Leu P218L not reviewed Insufficiently evaluated not reviewed unknown Array rs404613 1436 10742 0.133681 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - SRMS Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array rs35558836 1040 10750 0.0967442 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SRP14 Pro124Ala P124A not reviewed Insufficiently evaluated not reviewed unknown Array rs7535 9793 10758 0.910299 29 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SRP72 Gly188Asp G188D not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 4 Y 2 N - - SRP72 Gln189His Q189H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - SRP72 Asp517Glu D517E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - SRPK1 Phe609Val F609V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRPK3 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRPR Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SRPRB Val9Leu V9L not reviewed Insufficiently evaluated not reviewed unknown Array rs1107413 2231 10754 0.207458 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRPRB Arg252Gly R252G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRPX Lys426Gln K426Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - SRPX Pro225Ser P225S not reviewed Insufficiently evaluated not reviewed unknown Array rs1123773 79 8758 0.00902032 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 3 - 2 N - - SRPX Lys116Arg K116R not reviewed Insufficiently evaluated not reviewed unknown Array rs35474361 749 8759 0.085512 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.068 - - -3 - 0 N - - SRPX2 His154Asp H154D not reviewed Insufficiently evaluated not reviewed unknown Array 38 8761 0.0043374 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 3 - 2 N - - SRRD Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array rs4820682 7914 9594 0.824891 54 0 86 0 0 - - - - - - - - - - - - - - - - 0.6 - - 1 - 0 N - - SRRM1 Arg568Gly R568G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRRM1 Arg603Stop R603X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SRRM2 Ser311Gly S311G not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRRM2 Pro804Thr P804T not reviewed Insufficiently evaluated not reviewed unknown Array rs2240140 4821 10758 0.448132 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SRRM2 Ser1311Phe S1311F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SRRM2 Pro1929Leu P1929L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SS18L1 Ala321Thr A321T not reviewed Insufficiently evaluated not reviewed unknown Array 558 10756 0.051878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - SSBP1 Leu75Pro L75P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSBP2 Ser14Ala S14A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - SSFA2 Asp587Asn D587N not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - SSFA2 Gly647Asp G647D not reviewed Insufficiently evaluated not reviewed unknown Array rs75716247 613 10758 0.0569809 8 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SSFA2 Ala817Val A817V not reviewed Insufficiently evaluated not reviewed unknown Array rs16867510 370 10758 0.034393 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSFA2 Arg833Trp R833W not reviewed Insufficiently evaluated not reviewed unknown Array rs13419020 299 10758 0.0277933 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.315 - - 7 Y 1 N - - SSFA2 Pro836Leu P836L not reviewed Insufficiently evaluated not reviewed unknown Array rs17647806 421 10758 0.0391337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 3 - 4 - - SSFA2 Met932Val M932V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SSFA2 Ser1192Tyr S1192Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 5 Y 1 N - - SSFA2 Tyr1258Asn Y1258N not reviewed Insufficiently evaluated not reviewed unknown Array rs2303554 146 3232 0.0451733 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 5 Y 0 N - - SSH2 Ser743Leu S743L not reviewed Insufficiently evaluated not reviewed unknown Array rs2289629 2919 10758 0.271333 16 0 22 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - SSH2 Met676Val M676V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737983 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - 0 - 1 N - - SSH3 Asp142Asn D142N not reviewed Insufficiently evaluated not reviewed unknown Array rs61731165 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - SSH3 Arg363Trp R363W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - SSPN Ser186Asn S186N not reviewed Insufficiently evaluated not reviewed unknown Array rs12313670 915 10758 0.085053 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 1 N - - SSPN Ser83Asn S83N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPN Val125Ile V125I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SSPN Val228Ile V228I not reviewed Insufficiently evaluated not reviewed unknown Array rs12313736 1089 10758 0.101227 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.08 - - -4 - 0 N - - SSPO Arg35His R35H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSPO Gln146Arg Q146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Cys617Ser C617S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSPO Cys929Phe C929F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Trp1103Stop W1103X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SSPO Trp1152Arg W1152R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Cys1173Arg C1173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SSPO Leu1273Pro L1273P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SSPO Val1289Met V1289M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Gln1425Arg Q1425R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Val1869Ala V1869A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Pro1946Ser P1946S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSPO Ala2200Val A2200V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Arg2261Gln R2261Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Arg2395Trp R2395W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Asp2450Gly D2450G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Val2892Gly V2892G not reviewed Insufficiently evaluated not reviewed unknown Array rs10260959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SSPO Leu3080Pro L3080P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Val3207Ala V3207A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Val3212Ala V3212A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Ala3276Val A3276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Ser3307Phe S3307F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SSPO Arg3488Stop R3488X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SSPO Val3664Leu V3664L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO His3890Arg H3890R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSPO Glu3968Gly E3968G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO Arg4112Met R4112M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Thr4169Ala T4169A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSPO Leu4260Pro L4260P not reviewed Insufficiently evaluated not reviewed unknown Array rs1008335 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Gly4385Arg G4385R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO Ala4655Gly A4655G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSPO Arg4947Gln R4947Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Pro5048Leu P5048L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Ala5135Ser A5135S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSPO Leu5154Ile L5154I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SSR1 Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SSR1 Leu28Ser L28S not reviewed Insufficiently evaluated not reviewed unknown Array rs10004 3572 10758 0.332032 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SSTR3 Ser411Thr S411T not reviewed Insufficiently evaluated not reviewed unknown Array rs229568 748 10758 0.0695297 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - SSTR3 Pro37Leu P37L not reviewed Insufficiently evaluated not reviewed unknown Array rs34943557 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 3 - - SSTR3 Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array rs4988466 423 10752 0.0393415 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SSTR4 Phe284Val F284V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746726 3567 10758 0.331567 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SSTR4 Phe321Ser F321S not reviewed Insufficiently evaluated not reviewed unknown Array rs2567608 5070 10746 0.471803 42 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SSTR5 Ala52Val A52V not reviewed Insufficiently evaluated not reviewed unknown Array rs4988484 770 10682 0.0720839 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SSTR5 Pro109Ser P109S not reviewed Insufficiently evaluated not reviewed unknown Array rs4988487 702 10742 0.065351 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SSTR5 Thr333Met T333M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10696 0.000747943 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 1 - 3 - - SSTR5 Pro335Leu P335L not reviewed Insufficiently evaluated not reviewed unknown Array rs169068 5170 10690 0.48363 34 0 52 0 0 - - - - - - - - - - - - - - - - 0.143 - - 7 Y 0 N - - SSX1 Ser123Leu S123L not reviewed Insufficiently evaluated not reviewed unknown Array rs73499225 336 8760 0.0383562 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.87 - - 6 Y 2 N - - SSX2IP Cys578Arg C578R not reviewed Insufficiently evaluated not reviewed unknown Array rs1057746 5567 10758 0.517475 41 0 60 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SSX5 Glu19Gln E19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4824675 7659 8760 0.874315 50 0 93 0 0 - - - - - - - - - - - - - - - - 0.286 - - -2 - 0 N - - SSX6 Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array rs5952474 10 92 0.108696 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 1 N - - SSX6 Gly156Glu G156E not reviewed Insufficiently evaluated not reviewed unknown Array 10 92 0.108696 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - SSX6 Asp182Asn D182N not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - SSX6 Lys188Glu K188E not reviewed Insufficiently evaluated not reviewed unknown Array 10 92 0.108696 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SSX9 Ser97Pro S97P not reviewed Insufficiently evaluated not reviewed unknown Array rs6609702 4141 8760 0.472717 29 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SSX9 Cys72Arg C72R not reviewed Insufficiently evaluated not reviewed unknown Array rs4598385 4139 8760 0.472489 28 0 45 0 0 - - - - - - - - - - - - - - - - 0.013 - - 8 Y 0 N - - SSX9 Glu38Lys E38K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ST13 Met297Ile M297I not reviewed Insufficiently evaluated not reviewed unknown Array rs710193 751 10754 0.0698345 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 1 N - - ST14 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array rs62621285 301 10758 0.0279792 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ST14 Ile152Val I152V not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 1 - 1 - - ST14 Met285Ile M285I not reviewed Insufficiently evaluated not reviewed unknown Array rs7126904 1022 10712 0.095407 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.045 - - -1 - 0 N - - ST14 Thr350Ala T350A not reviewed Insufficiently evaluated not reviewed unknown Array rs62642514 305 10758 0.028351 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.851 - - 1 - 2 N - - ST14 Arg381Ser R381S not reviewed Insufficiently evaluated not reviewed unknown Array rs17667603 692 10758 0.0643242 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.657 - - 3 - 1 - 4 - - ST14 Pro786Leu P786L not reviewed Insufficiently evaluated not reviewed unknown Array 65 10708 0.00607023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 3 - 1 - - ST18 Ile650Thr I650T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - ST18 Thr414Met T414M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - ST18 Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 3 - 1 - - ST20 Pro57Leu P57L not reviewed Insufficiently evaluated not reviewed unknown Array rs7257 5201 10756 0.483544 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ST3GAL1 Val16Gly V16G not reviewed Insufficiently evaluated not reviewed unknown Array rs73359235 294 10758 0.0273285 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.098 - - 8 Y 0 N - - ST3GAL3 Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ST3GAL3 Thr128Ala T128A not reviewed Insufficiently evaluated not reviewed unknown Array rs37458 3588 10704 0.335202 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ST3GAL3 Thr97Ala T97A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ST3GAL5 His104Arg H104R not reviewed Insufficiently evaluated not reviewed unknown Array rs3731824 1697 10758 0.157743 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ST3GAL5 His81Arg H81R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ST3GAL6 Ile113Met I113M not reviewed Insufficiently evaluated not reviewed unknown Array 399 10758 0.0370887 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - ST3GAL6 Ala311Thr A311T not reviewed Insufficiently evaluated not reviewed unknown Array rs28489284 564 10758 0.0524261 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - ST5 Val463Ala V463A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST5 Val883Ala V883A not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - 2 - 0 N - - ST5 Asn129Thr N129T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ST5 Asn549Thr N549T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ST5 Asp399Glu D399E not reviewed Insufficiently evaluated not reviewed unknown Array rs3812762 2805 10758 0.260736 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ST5 Lys316Asn K316N not reviewed Insufficiently evaluated not reviewed unknown Array rs3794153 3415 10728 0.318326 22 0 33 0 0 - - - - - - - - - - - - - - - - 0.92 - - 1 - 1 N - - ST6GAL2 Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array rs12615112 1488 10758 0.138316 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ST6GAL2 Gly154Arg G154R not reviewed Insufficiently evaluated not reviewed unknown Array rs3796110 1043 10756 0.0969691 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.358 - - 6 Y 0 N - - ST6GAL2 Lys109Glu K109E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST6GAL2 Ala91Val A91V not reviewed Insufficiently evaluated not reviewed unknown Array 513 10624 0.0482869 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST6GALNAC1 Ile424Val I424V not reviewed Insufficiently evaluated not reviewed unknown Array rs35948039 303 10758 0.0281651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 2 - 2 - - ST6GALNAC1 Val80Ala V80A not reviewed Insufficiently evaluated not reviewed unknown Array rs8077382 1173 10758 0.109035 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ST6GALNAC3 Leu223Ile L223I not reviewed Insufficiently evaluated not reviewed unknown Array rs1184626 5129 10758 0.476761 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ST7 Arg567Leu R567L not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - ST7L Gly540Asp G540D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ST7L Gly554Asp G554D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ST7L Gly571Asp G571D not reviewed Insufficiently evaluated not reviewed unknown Array rs12069022 381 10758 0.0354155 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.955 - - 4 Y 2 N - - ST7L Gln532Stop Q532X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ST7L Gln546Stop Q546X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ST7L Gln563Stop Q563X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ST7L Arg434Gln R434Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6658555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST7L Arg451Gln R451Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6658555 2176 10758 0.202268 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.822 - - 0 - 0 N - - ST8SIA3 Lys91Thr K91T not reviewed Insufficiently evaluated not reviewed unknown Array rs3745060 2838 10758 0.263804 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ST8SIA6 Thr47Ser T47S not reviewed Insufficiently evaluated not reviewed unknown Array rs45462798 238 10682 0.0222805 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - STAB1 Met912Val M912V not reviewed Insufficiently evaluated not reviewed unknown Array rs9835659 10586 10758 0.984012 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STAB1 Ala1572Val A1572V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STAB1 Ala1732Gly A1732G not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STAB1 Ala1833Pro A1833P not reviewed Insufficiently evaluated not reviewed unknown Array rs7630214 10298 10756 0.957419 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - STAB1 Ile2282Val I2282V not reviewed Insufficiently evaluated not reviewed unknown Array rs4434138 4010 10758 0.372746 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - STAB1 Met2506Thr M2506T not reviewed Insufficiently evaluated not reviewed unknown Array rs13303 6418 10740 0.597579 45 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - STAB2 Ile110Val I110V not reviewed Insufficiently evaluated not reviewed unknown Array rs17034186 500 10758 0.046477 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STAB2 Thr253Met T253M not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.521 - - 2 - 1 N - - STAB2 Pro510His P510H not reviewed Insufficiently evaluated not reviewed unknown Array rs1609860 636 10758 0.0591188 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - STAB2 Arg787Gln R787Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17034336 354 10758 0.0329057 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - STAB2 Arg881His R881H not reviewed Insufficiently evaluated not reviewed unknown Array rs7973658 339 10758 0.0315114 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - STAB2 Asn1736Thr N1736T not reviewed Insufficiently evaluated not reviewed unknown Array rs17034433 395 10754 0.0367305 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STAB2 Glu1809Gln E1809Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - STAB2 Pro2039Thr P2039T not reviewed Insufficiently evaluated not reviewed unknown Array rs7306642 1127 10758 0.104759 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - STAB2 Leu2401Val L2401V not reviewed Insufficiently evaluated not reviewed unknown Array rs2271637 2409 10758 0.223926 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STAC Asn262Ser N262S not reviewed Insufficiently evaluated not reviewed unknown Array rs7634545 269 10758 0.0250046 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - STAC2 Arg400Trp R400W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - STAC2 Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10750 0.000930232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - STAG1 Gln1132His Q1132H not reviewed Insufficiently evaluated not reviewed unknown Array rs34149860 1047 10758 0.0973229 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STAG3 Leu16Phe L16F not reviewed Insufficiently evaluated not reviewed unknown Array rs11531577 1851 10758 0.172058 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STAG3 Thr36Pro T36P not reviewed Insufficiently evaluated not reviewed unknown Array rs2272343 1875 10758 0.174289 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.053 - - 4 Y 0 N - - STAG3L3 Cys87Arg C87R not reviewed Insufficiently evaluated not reviewed unknown Array rs423491 20 2220 0.00900901 16 0 32 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STAG3L4 Glu116Gln E116Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1045513 5979 10758 0.555772 44 0 63 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - STAM2 Ile79Arg I79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - STAMBPL1 Ser196Asn S196N not reviewed Insufficiently evaluated not reviewed unknown Array rs12254856 1606 10758 0.149284 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STAP2 Glu218Asp E218D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STAP2 Val187Leu V187L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10706 0.00280217 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAP2 Asp93Asn D93N not reviewed Insufficiently evaluated not reviewed unknown Array rs7247504 6524 10758 0.606432 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STAR Leu76Arg L76R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 6 Y 2 - 4 - - STAR Glu64Asp E64D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.486 Y - -2 - 3 - 10 - - STAR Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.117 Y - 0 - 2 - 10 - - STARD13 Arg265Pro R265P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - STARD13 Arg375Pro R375P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - STARD13 Arg383Pro R383P not reviewed Insufficiently evaluated not reviewed unknown Array 233 10758 0.0216583 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 5 Y 1 - 4 - - STARD13 Lys132Arg K132R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STARD13 Lys242Arg K242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STARD13 Lys250Arg K250R not reviewed Insufficiently evaluated not reviewed unknown Array rs3742321 1974 10758 0.183491 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.033 - - -3 - 0 N - - STARD3 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1877031 5483 10758 0.509667 39 0 52 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - STARD3 Gly216Ala G216A not reviewed Insufficiently evaluated not reviewed unknown Array rs11556624 190 10758 0.0176613 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.505 - - 1 - 1 N - - STARD3 Ala293Pro A293P not reviewed Insufficiently evaluated not reviewed unknown Array rs35673246 156 10758 0.0145008 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - STARD3 Arg352His R352H not reviewed Insufficiently evaluated not reviewed unknown Array rs34408242 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - STARD6 Leu114Stop L114X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - STARD7 Arg140Pro R140P not reviewed Insufficiently evaluated not reviewed unknown Array rs2276650 1401 10758 0.130229 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - STARD8 Arg327Gln R327Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55962426 7 92 0.076087 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STARD8 Arg407Gln R407Q not reviewed Insufficiently evaluated not reviewed unknown Array 685 8761 0.0781874 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STAT2 Met594Ile M594I not reviewed Insufficiently evaluated not reviewed unknown Array rs2066807 458 10758 0.042573 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STAU1 Leu165Pro L165P not reviewed Insufficiently evaluated not reviewed unknown Array rs61748376 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STAU1 Leu84Pro L84P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 7 Y 1 N - - STAU2 Val166Met V166M not reviewed Insufficiently evaluated not reviewed unknown Array rs949493 9524 10758 0.885295 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STBD1 Pro258Leu P258L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.743 - - 7 Y 1 N - - STC1 Val34Met V34M not reviewed Insufficiently evaluated not reviewed unknown Array rs59758009 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - STC2 Arg44Leu R44L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - STEAP1 Lys30Glu K30E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - STEAP1 His47Gln H47Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 1 - 3 - - STEAP1 Thr64Ala T64A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STEAP1 Ile80Val I80V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - STEAP1 Ile81Met I81M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - STEAP2 Phe17Cys F17C not reviewed Insufficiently evaluated not reviewed unknown Array rs194520 4941 10758 0.459286 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - STEAP2 Gly214Glu G214E not reviewed Insufficiently evaluated not reviewed unknown Array rs13228098 227 10758 0.0211006 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STEAP2 Arg456Gln R456Q not reviewed Insufficiently evaluated not reviewed unknown Array rs194524 4889 10756 0.454537 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STEAP2 Met475Ile M475I not reviewed Insufficiently evaluated not reviewed unknown Array rs194525 9465 10752 0.880301 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STEAP3 Ala184Thr A184T not reviewed Insufficiently evaluated not reviewed unknown Array rs17013371 905 10758 0.0841234 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - STEAP3 Ala194Thr A194T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STEAP4 Arg318Leu R318L not reviewed Insufficiently evaluated not reviewed unknown Array 72 9782 0.00736046 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - STEAP4 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array rs34741656 1533 9752 0.157199 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 0 N - - STEAP4 Gly75Asp G75D not reviewed Insufficiently evaluated not reviewed unknown Array rs1981529 7729 9582 0.806617 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - STH Gln7Arg Q7R not reviewed Insufficiently evaluated not reviewed unknown Array rs62063857 1658 10004 0.165734 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STIL Ala1145Val A1145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 2 - 1 N - - STIL Ala1146Val A1146V not reviewed Insufficiently evaluated not reviewed unknown Array rs3766317 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - STIL His984Arg H984R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.088 - Y 1 - 1 N - - STIL His985Arg H985R not reviewed Insufficiently evaluated not reviewed unknown Array rs13376679 2998 10756 0.278728 22 0 25 0 0 - - - - - - - - - - - - Y - - - 0.648 - Y 1 - 1 N - - STIL Thr979Ala T979A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 1 - 1 N - - STIL Thr980Ala T980A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - STIL Ala357Thr A357T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 - Y 1 - 1 N - - STIL Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array rs3125630 6401 10758 0.594999 48 0 70 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 - 2 - - STIM1 Glu136Asp E136D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STIM1 Pro538Ser P538S not reviewed Insufficiently evaluated not reviewed unknown Array rs35960304 253 10758 0.0235174 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STIM2 Pro68Arg P68R not reviewed Insufficiently evaluated not reviewed unknown Array 931 8272 0.112548 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - STIM2 Arg604His R604H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STK10 Leu671Arg L671R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - STK10 Pro520Leu P520L not reviewed Insufficiently evaluated not reviewed unknown Array rs17074311 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - STK11IP Arg1Met R1M not reviewed Insufficiently evaluated not reviewed unknown Array rs681747 8301 9892 0.839163 48 0 87 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - STK11IP Arg439Cys R439C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STK11IP Val563Ile V563I not reviewed Insufficiently evaluated not reviewed unknown Array rs673951 2430 10004 0.242903 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - STK11IP Ser752Phe S752F not reviewed Insufficiently evaluated not reviewed unknown Array rs627530 8692 10340 0.840619 49 0 88 0 0 - - - - - - - - - - - - - - - - 0.276 - - 5 Y 0 N - - STK17A Glu126Asp E126D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - STK17A Glu286Gln E286Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3779062 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 5 - - STK17A Lys362Glu K362E not reviewed Insufficiently evaluated not reviewed unknown Array rs1044141 8847 10758 0.822365 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STK19 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10752 0.00334821 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STK19 Ser307Gly S307G not reviewed Insufficiently evaluated not reviewed unknown Array rs616634 969 7512 0.128994 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - STK19 Ser311Gly S311G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - STK19 Ala327Val A327V not reviewed Insufficiently evaluated not reviewed unknown Array rs7743647 4 7518 0.000532056 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STK19 Ala331Val A331V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - STK25 Gln343Pro Q343P not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - STK31 Gln48His Q48H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STK31 Gln71His Q71H not reviewed Insufficiently evaluated not reviewed unknown Array rs6945306 2684 10758 0.249489 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - STK31 Glu238Lys E238K not reviewed Insufficiently evaluated not reviewed unknown Array rs10264952 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK31 Glu261Lys E261K not reviewed Insufficiently evaluated not reviewed unknown Array rs10264952 1618 10758 0.1504 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - STK31 Lys245Asn K245N not reviewed Insufficiently evaluated not reviewed unknown Array rs10264967 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STK31 Lys268Asn K268N not reviewed Insufficiently evaluated not reviewed unknown Array rs10264967 1659 10758 0.154211 15 0 14 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 1 N - - STK31 Gly387Glu G387E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - STK31 Gly410Glu G410E not reviewed Insufficiently evaluated not reviewed unknown Array rs4722266 1773 10758 0.164808 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - STK31 Asn598Lys N598K not reviewed Insufficiently evaluated not reviewed unknown Array rs10263079 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STK31 Asn621Lys N621K not reviewed Insufficiently evaluated not reviewed unknown Array rs10263079 1753 10730 0.163374 16 0 15 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 1 N - - STK31 Ser600Ile S600I not reviewed Insufficiently evaluated not reviewed unknown Array rs10247878 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STK31 Ser623Ile S623I not reviewed Insufficiently evaluated not reviewed unknown Array rs10247878 1380 10742 0.128468 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 0 N - - STK32B Arg198Gly R198G not reviewed Insufficiently evaluated not reviewed unknown Array rs3733182 1391 10758 0.129299 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - STK33 Ala437Thr A437T not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STK33 Asp436Glu D436E not reviewed Insufficiently evaluated not reviewed unknown Array 322 10758 0.0299312 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.583 - - -2 - 1 N - - STK33 Lys60Glu K60E not reviewed Insufficiently evaluated not reviewed unknown Array rs60786172 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 1 - 2 - - STK36 Arg240Trp R240W not reviewed Insufficiently evaluated not reviewed unknown Array rs35038757 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 2 - 1 - - STK36 Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array rs1863703 1677 10758 0.155884 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - STK36 Leu462Val L462V not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 3 - 2 - - STK36 Arg477Trp R477W not reviewed Insufficiently evaluated not reviewed unknown Array rs16859180 456 10758 0.0423871 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - STK36 Arg583Gln R583Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1344642 5459 10758 0.507436 38 0 52 0 0 - - - - - - - - - - - - - - - - 0.892 - - 0 - 1 N - - STK36 Gln638Pro Q638P not reviewed Insufficiently evaluated not reviewed unknown Array rs6709303 720 10758 0.0669269 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - STK36 Leu790Val L790V not reviewed Insufficiently evaluated not reviewed unknown Array rs73079072 258 10756 0.0239866 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK36 Pro910Thr P910T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 4 Y 1 N - - STK36 Gly1003Asp G1003D not reviewed Insufficiently evaluated not reviewed unknown Array rs1863704 2977 10758 0.276724 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.061 - - 4 Y 0 N - - STK36 Val1004Ile V1004I not reviewed Insufficiently evaluated not reviewed unknown Array rs55633575 754 10758 0.0700874 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - STK36 Arg1112Gln R1112Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12993599 723 10758 0.0672058 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.124 - - 0 - 0 N - - STK36 Cys1231Gly C1231G not reviewed Insufficiently evaluated not reviewed unknown Array rs73079079 728 10758 0.0676706 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 1 N - - STK4 Thr271Pro T271P not reviewed Insufficiently evaluated not reviewed unknown Array 342 10758 0.0317903 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.379 - - 4 Y 1 N - - STK4 Val312Met V312M not reviewed Insufficiently evaluated not reviewed unknown Array rs17420378 2751 10758 0.255717 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STK4 Ile355Thr I355T not reviewed Insufficiently evaluated not reviewed unknown Array rs35944046 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - STK4 Pro416Leu P416L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - STK40 Ala395Thr A395T not reviewed Insufficiently evaluated not reviewed unknown Array rs3795498 2495 10758 0.23192 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - STK40 Asp243Gly D243G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 4 Y 0 N - - STOML2 Ser29Phe S29F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - STOML3 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STOML3 Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744586 445 10758 0.0413646 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - STON1 Lys8Asn K8N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STON1 Gly118Val G118V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STON1 Arg127Thr R127T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STON1 Arg269Lys R269K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STON1 Gln607His Q607H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STON1-GTF2A1L Lys8Asn K8N not reviewed Insufficiently evaluated not reviewed unknown Array rs17039250 3381 10758 0.314278 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - STON1-GTF2A1L Gly118Val G118V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STON1-GTF2A1L Arg127Thr R127T not reviewed Insufficiently evaluated not reviewed unknown Array rs940389 3547 10758 0.329708 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - STON1-GTF2A1L Arg269Lys R269K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STON1-GTF2A1L Gln607His Q607H not reviewed Insufficiently evaluated not reviewed unknown Array rs3792234 4825 10758 0.448503 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STON1-GTF2A1L Asn963Asp N963D not reviewed Insufficiently evaluated not reviewed unknown Array rs10432667 2360 10758 0.219372 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STON1-GTF2A1L Thr1043Ala T1043A not reviewed Insufficiently evaluated not reviewed unknown Array rs33987892 151 10756 0.0140387 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - STON2 Ser851Ala S851A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241621 59 128 0.460938 31 0 42 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 1 N - - STON2 Arg646His R646H not reviewed Insufficiently evaluated not reviewed unknown Array rs34323725 11 128 0.0859375 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - STON2 Ser307Pro S307P not reviewed Insufficiently evaluated not reviewed unknown Array rs3813535 109 128 0.851562 51 0 92 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - STOX1 Tyr153His Y153H not reviewed Insufficiently evaluated not reviewed unknown Array rs1341667 70 128 0.546875 38 0 55 0 0 - - - - - - - - - - - - - Y - - 0.095 - - -1 - 2 N - - STOX1 Tyr43His Y43H not reviewed Insufficiently evaluated not reviewed unknown Array rs1341667 5468 9558 0.572086 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STOX1 Thr188Asn T188N not reviewed Insufficiently evaluated not reviewed unknown Array rs73266500 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - STOX1 Thr78Asn T78N not reviewed Insufficiently evaluated not reviewed unknown Array 109 9714 0.0112209 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STOX1 Gly198Ala G198A not reviewed Insufficiently evaluated not reviewed unknown Array 27 9704 0.00278236 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STOX1 Gly308Ala G308A not reviewed Insufficiently evaluated not reviewed unknown Array rs57004679 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - STOX1 Leu472Phe L472F not reviewed Insufficiently evaluated not reviewed unknown Array 92 9754 0.00943203 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STOX1 Leu582Phe L582F not reviewed Insufficiently evaluated not reviewed unknown Array rs41278530 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 0 - 0 N - - STOX1 Glu498Asp E498D not reviewed Insufficiently evaluated not reviewed unknown Array rs10509305 1604 9856 0.162744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - STOX1 Glu608Asp E608D not reviewed Insufficiently evaluated not reviewed unknown Array rs10509305 16 128 0.125 10 0 12 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 2 N - - STOX1 Ala750Thr A750T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10156 0.000984639 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STOX1 Ala860Thr A860T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STOX1 Ala753Thr A753T not reviewed Insufficiently evaluated not reviewed unknown Array 324 10220 0.0317025 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - STOX1 Ala863Thr A863T not reviewed Insufficiently evaluated not reviewed unknown Array rs7904300 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 1 - 3 - - STOX2 Val681Ile V681I not reviewed Insufficiently evaluated not reviewed unknown Array rs61730748 323 9936 0.032508 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STRA13 Ala44Val A44V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10632 0.00413845 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STRA6 Met518Ile M518I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STRA6 Met527Ile M527I not reviewed Insufficiently evaluated not reviewed unknown Array rs736118 924 10758 0.0858896 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - STRA6 Leu152Met L152M not reviewed Insufficiently evaluated not reviewed unknown Array rs971756 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STRA6 Ser11Ala S11A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - STRADA Leu112Val L112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - STRADA Leu133Val L133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STRADA Leu170Val L170V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734984 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - STRC Arg1541Leu R1541L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 6 Y 4 N - - STRC Arg1521Gln R1521Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74643365 462 10756 0.0429528 4 0 3 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 0 - 2 N - - STRC His1298Arg H1298R not reviewed Insufficiently evaluated not reviewed unknown Array rs2920780 2348 10690 0.219645 2 0 4 0 0 1 Y - - - - - - - - - - Y - - - 0.323 Y Y 1 - 2 N - - STRN Pro380Ser P380S not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - STRN3 Asn387Ser N387S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273171 55 128 0.429688 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STRN3 Asn471Ser N471S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273171 4541 10758 0.422104 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STRN3 Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array 432 5920 0.072973 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - STT3B Arg167Lys R167K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -3 - 2 N - - STT3B Asp168Asn D168N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - STT3B Glu191Lys E191K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - STX10 Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - STX10 Arg183His R183H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.541 - - 1 - 1 N - - STX11 Arg49Gln R49Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17073498 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 3 - 2 - - STX11 Thr277Ala T277A not reviewed Insufficiently evaluated not reviewed unknown Array rs9496891 461 10754 0.0428678 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - STX18 Ser228Thr S228T not reviewed Insufficiently evaluated not reviewed unknown Array rs33952588 739 10758 0.0686931 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - STX18 Glu184Ala E184A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740788 652 10758 0.0606061 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - STX18 Ser51Gly S51G not reviewed Insufficiently evaluated not reviewed unknown Array rs36109375 174 10678 0.0162952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STX1B Phe33Leu F33L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - STX2 Lys54Arg K54R not reviewed Insufficiently evaluated not reviewed unknown Array rs7301926 603 10758 0.0560513 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.441 - - -3 - 0 N - - STX2 Ser42Thr S42T not reviewed Insufficiently evaluated not reviewed unknown Array rs6486602 5678 10756 0.527891 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - STXBP2 Thr342Met T342M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - STXBP2 Thr345Met T345M not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - STXBP2 Ile523Val I523V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - STXBP2 Ile526Val I526V not reviewed Insufficiently evaluated not reviewed unknown Array rs6791 7233 10718 0.674846 50 0 78 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 2 - - STXBP2 Arg526Pro R526P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - STXBP2 Arg529Pro R529P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10738 0.00158316 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 4 N - - STXBP4 Gly92Arg G92R not reviewed Insufficiently evaluated not reviewed unknown Array rs1156287 8427 10758 0.783324 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - STXBP4 Cys120Arg C120R not reviewed Insufficiently evaluated not reviewed unknown Array rs34870302 669 10758 0.0621863 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.119 - - 8 Y 0 N - - STXBP5 Trp223Stop W223X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - STXBP5 Asn436Ser N436S not reviewed Insufficiently evaluated not reviewed unknown Array rs1039084 5441 10758 0.505763 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STXBP5L Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array rs61996323 58 9466 0.00612719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.252 - - 0 - 1 N - - STXBP5L Thr568Ser T568S not reviewed Insufficiently evaluated not reviewed unknown Array rs17249244 1502 9538 0.157475 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - STXBP5L Val855Ile V855I not reviewed Insufficiently evaluated not reviewed unknown Array rs17740066 758 9748 0.0777595 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - STXBP5L Met1064Ile M1064I not reviewed Insufficiently evaluated not reviewed unknown Array rs13094925 8 9542 0.000838398 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - STYK1 Ser204Gly S204G not reviewed Insufficiently evaluated not reviewed unknown Array rs3759259 5547 10758 0.515616 37 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - STYXL1 Ala205Thr A205T not reviewed Insufficiently evaluated not reviewed unknown Array rs12686 43 10756 0.00399777 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SUCLA2 Ser199Thr S199T not reviewed Insufficiently evaluated not reviewed unknown Array rs7320366 7968 10758 0.740658 43 0 71 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 1 - - SUCLG2 Thr396Ala T396A not reviewed Insufficiently evaluated not reviewed unknown Array rs35494829 966 9838 0.0981907 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 1 N - - SUCLG2 Ala117Thr A117T not reviewed Insufficiently evaluated not reviewed unknown Array rs13318110 236 9604 0.0245731 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SULF2 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array rs56218501 1696 10758 0.15765 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SULT1A1 Val145Met V145M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801030 1 0 2 0 0 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - SULT1A1 Val223Met V223M not reviewed Insufficiently evaluated not reviewed unknown Array rs1801030 9363 10750 0.870977 44 0 77 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SULT1A1 Arg135His R135H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - SULT1A1 Arg213His R213H not reviewed Insufficiently evaluated not reviewed unknown Array rs1042028 2402 10758 0.223276 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SULT1A2 Lys282Glu K282E not reviewed Insufficiently evaluated not reviewed unknown Array rs27742 10457 10710 0.976377 53 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SULT1A2 Asn235Thr N235T not reviewed Insufficiently evaluated not reviewed unknown Array rs1059491 3468 10758 0.322365 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SULT1A2 Val86Ala V86A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - SULT1A2 Pro19Leu P19L not reviewed Insufficiently evaluated not reviewed unknown Array rs10797300 1300 10750 0.12093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SULT1B1 Thr261Met T261M not reviewed Insufficiently evaluated not reviewed unknown Array 48 10756 0.00446262 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 2 - - SULT1B1 Leu145Val L145V not reviewed Insufficiently evaluated not reviewed unknown Array rs11569736 354 10752 0.0329241 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - SULT1C2 Leu127Phe L127F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SULT1C2 Leu138Phe L138F not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SULT1C2 Ser255Ala S255A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SULT1C2 Ser266Ala S266A not reviewed Insufficiently evaluated not reviewed unknown Array rs17036104 490 10758 0.0455475 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SULT1C3 Tyr148Cys Y148C not reviewed Insufficiently evaluated not reviewed unknown Array rs17035911 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 5 - - SULT1C3 Gly179Arg G179R not reviewed Insufficiently evaluated not reviewed unknown Array rs2219078 38 128 0.296875 28 0 32 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - SULT1C3 Met194Thr M194T not reviewed Insufficiently evaluated not reviewed unknown Array rs6722745 64 128 0.5 41 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SULT1C4 Asp5Glu D5E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1402467 4616 10758 0.429076 42 0 64 1 1 - - - - - - - - - - - - - - - Y - - - -2 - 1 N - - SULT1C4 Ile68Met I68M not reviewed Insufficiently evaluated not reviewed unknown Array rs41322445 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 3 - 2 - - SULT6B1 Arg221Leu R221L not reviewed Insufficiently evaluated not reviewed unknown Array rs11569761 108 10758 0.010039 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SULT6B1 Leu112Phe L112F not reviewed Insufficiently evaluated not reviewed unknown Array rs10205833 2703 10758 0.251255 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SUMF1 Ser63Asn S63N not reviewed Insufficiently evaluated not reviewed unknown Array rs2819590 1690 8820 0.19161 11 0 12 0 0 - - - - - - - - - - - - Y - - - 0.697 Y - 0 - 2 - 4 - - SUMF2 Asp70Glu D70E not reviewed Insufficiently evaluated not reviewed unknown Array rs4245575 10739 10758 0.998234 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SUMO4 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUMO4 Val55Met V55M not reviewed Insufficiently evaluated not reviewed unknown Array rs237025 6047 10758 0.562093 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SUMO4 Thr91Met T91M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUPT16H Met870Ile M870I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - SUPT3H Asp242Ala D242A not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 3 - 2 - - SUPT3H Asp253Ala D253A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - SUPT3H Thr7Met T7M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SUPT6H Asp1309Tyr D1309Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 7 Y 0 N - - SURF1 Asp202His D202H not reviewed Insufficiently evaluated not reviewed unknown Array rs72619327 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.978 Y - 3 - 3 N - - SURF2 Pro205Ser P205S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SURF2 Ser213Gly S213G not reviewed Insufficiently evaluated not reviewed unknown Array rs12763 7323 10758 0.680703 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SURF2 Pro255Ser P255S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751475 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SURF6 Thr311Met T311M not reviewed Insufficiently evaluated not reviewed unknown Array rs1800867 151 10750 0.0140465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SURF6 Thr175Met T175M not reviewed Insufficiently evaluated not reviewed unknown Array rs886089 2763 10758 0.256832 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SURF6 Arg163Trp R163W not reviewed Insufficiently evaluated not reviewed unknown Array rs886090 2764 10758 0.256925 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SURF6 Thr51Pro T51P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 4 Y 0 N - - SUSD1 Ile191Thr I191T not reviewed Insufficiently evaluated not reviewed unknown Array rs56781280 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.845 - - 3 - 1 N - - SUSD2 Arg34His R34H not reviewed Insufficiently evaluated not reviewed unknown Array rs62231981 4718 10754 0.43872 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.475 - - 1 - 0 N - - SUSD2 Gly70Val G70V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SUSD2 Ala91Thr A91T not reviewed Insufficiently evaluated not reviewed unknown Array 3412 10698 0.318938 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 1 - - SUSD2 Asn466Ser N466S not reviewed Insufficiently evaluated not reviewed unknown Array rs8141797 1066 10756 0.0991075 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - SUSD2 Arg486Gly R486G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SUSD3 Lys136Glu K136E not reviewed Insufficiently evaluated not reviewed unknown Array rs1131773 2592 10758 0.240937 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SUSD4 Ala464Ser A464S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737415 104 10490 0.0099142 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SUSD4 Arg209His R209H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUSD5 Glu378Asp E378D not reviewed Insufficiently evaluated not reviewed unknown Array rs6810039 5032 10384 0.484592 46 0 69 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SUSD5 Leu272Ser L272S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743461 1643 9760 0.16834 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SUSD5 Phe40Leu F40L not reviewed Insufficiently evaluated not reviewed unknown Array rs9637517 8983 9986 0.899559 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SUV420H1 Ser427Phe S427F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 5 Y 1 N - - SUV420H1 Ile9Asn I9N not reviewed Insufficiently evaluated not reviewed unknown Array rs2512606 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SV2B Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SV2B Lys635Ile K635I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SV2C Ile106Asn I106N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SV2C Thr482Ser T482S not reviewed Insufficiently evaluated not reviewed unknown Array rs2270927 1416 9544 0.148365 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SV2C Asp543Asn D543N not reviewed Insufficiently evaluated not reviewed unknown Array rs31244 899 9752 0.0921862 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SVEP1 Thr3559Met T3559M not reviewed Insufficiently evaluated not reviewed unknown Array rs17204533 1149 9620 0.119439 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.964 - - 2 - 1 N - - SVEP1 Gly3290Arg G3290R not reviewed Insufficiently evaluated not reviewed unknown Array rs73655337 240 9908 0.0242229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SVEP1 Phe3161Ile F3161I not reviewed Insufficiently evaluated not reviewed unknown Array rs3739451 1365 9708 0.140606 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.675 - - 2 - 0 N - - SVEP1 Gly3098Asp G3098D not reviewed Insufficiently evaluated not reviewed unknown Array rs73655342 279 10002 0.0278944 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 4 Y 0 N - - SVEP1 Ala2750Val A2750V not reviewed Insufficiently evaluated not reviewed unknown Array rs71492888 3668 10014 0.366287 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SVEP1 Asp2702Gly D2702G not reviewed Insufficiently evaluated not reviewed unknown Array 310 9956 0.031137 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - SVEP1 Ser2092Gly S2092G not reviewed Insufficiently evaluated not reviewed unknown Array rs56291458 435 9646 0.0450964 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - SVEP1 Glu1810Ala E1810A not reviewed Insufficiently evaluated not reviewed unknown Array rs2986671 1243 9696 0.128197 12 0 16 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - SVEP1 Leu1648Val L1648V not reviewed Insufficiently evaluated not reviewed unknown Array rs7852962 1878 9996 0.187875 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SVEP1 Met1444Leu M1444L not reviewed Insufficiently evaluated not reviewed unknown Array rs7863519 2502 9940 0.25171 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - SVEP1 Lys1416Gln K1416Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1889323 1009 8222 0.12272 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SVEP1 Leu1330Met L1330M not reviewed Insufficiently evaluated not reviewed unknown Array rs10817021 1243 9686 0.12833 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - SVEP1 Ile1157Val I1157V not reviewed Insufficiently evaluated not reviewed unknown Array rs7038903 1783 9724 0.183361 20 0 26 0 0 - - - - - - - - - - - - - - - - 0.907 - - -4 - 1 N - - SVEP1 Lys899Arg K899R not reviewed Insufficiently evaluated not reviewed unknown Array rs10817025 2567 9910 0.259031 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SVEP1 Ile637Val I637V not reviewed Insufficiently evaluated not reviewed unknown Array rs13286541 667 9936 0.0671296 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 2 - - SVEP1 Gln581His Q581H not reviewed Insufficiently evaluated not reviewed unknown Array rs10817033 1328 9704 0.136851 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 1 N - - SVEP1 Val507Ile V507I not reviewed Insufficiently evaluated not reviewed unknown Array rs872665 2738 10192 0.268642 26 0 29 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 0 N - - SVEP1 Arg367Lys R367K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -3 - 0 N - - SVEP1 Tyr366Stop Y366X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SVEP1 Gly332Ala G332A not reviewed Insufficiently evaluated not reviewed unknown Array rs3818764 1501 10120 0.14832 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SVEP1 Arg229Gly R229G not reviewed Insufficiently evaluated not reviewed unknown Array rs61751937 221 9896 0.0223323 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SVIL Ala1615Val A1615V not reviewed Insufficiently evaluated not reviewed unknown Array rs17694739 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVIL Ala2041Val A2041V not reviewed Insufficiently evaluated not reviewed unknown Array rs17694739 1066 10756 0.0991075 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - SVIL Ile1579Val I1579V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SVIL Ile2005Val I2005V not reviewed Insufficiently evaluated not reviewed unknown Array rs7921306 1359 10756 0.126348 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.108 - - -4 - 0 N - - SVIL Ser1262Pro S1262P not reviewed Insufficiently evaluated not reviewed unknown Array rs11007612 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SVIL Ser1688Pro S1688P not reviewed Insufficiently evaluated not reviewed unknown Array rs11007612 1138 10758 0.105782 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SVIL Met1259Thr M1259T not reviewed Insufficiently evaluated not reviewed unknown Array 1292 10758 0.120097 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 1 N - - SVIL Met833Thr M833T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVIL Pro1235Ala P1235A not reviewed Insufficiently evaluated not reviewed unknown Array rs2368406 7956 10722 0.742026 50 0 82 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 1 N - - SVIL Pro809Ala P809A not reviewed Insufficiently evaluated not reviewed unknown Array rs2368406 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVIL Val1041Leu V1041L not reviewed Insufficiently evaluated not reviewed unknown Array rs7070135 1504 10758 0.139803 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SVIL Val615Leu V615L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SVIL Val422Ile V422I not reviewed Insufficiently evaluated not reviewed unknown Array rs1247696 10628 10758 0.987916 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SVIL Arg215Trp R215W not reviewed Insufficiently evaluated not reviewed unknown Array rs74132329 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.732 - - 7 Y 1 N - - SVIL Val189Ala V189A not reviewed Insufficiently evaluated not reviewed unknown Array rs10160013 3385 10758 0.31465 21 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SVOPL Phe233Cys F233C not reviewed Insufficiently evaluated not reviewed unknown Array rs2305816 60 128 0.46875 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SVOPL Phe385Cys F385C not reviewed Insufficiently evaluated not reviewed unknown Array rs2305816 6738 10758 0.626325 4 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 1 N - - SVOPL Arg170Stop R170X not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SVOPL Arg18Stop R18X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SWAP70 Gln505Glu Q505E not reviewed Insufficiently evaluated not reviewed unknown Array rs415895 6688 10758 0.621677 45 0 67 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SYAP1 Val308Ile V308I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYCE1 Pro274Ala P274A not reviewed Insufficiently evaluated not reviewed unknown Array rs11101822 7 128 0.0546875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYCE1 Pro310Ala P310A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYCE1 His321Arg H321R not reviewed Insufficiently evaluated not reviewed unknown Array rs3737031 266 3234 0.0822511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 1 - 1 N - - SYCE1 Glu148Gly E148G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYCE1 Glu184Gly E184G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SYCE1 Lys147Arg K147R not reviewed Insufficiently evaluated not reviewed unknown Array rs3747881 30 128 0.234375 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SYCE1 Lys183Arg K183R not reviewed Insufficiently evaluated not reviewed unknown Array rs3747881 1241 10758 0.115356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SYCE1 Glu132Asp E132D not reviewed Insufficiently evaluated not reviewed unknown Array rs8181357 898 10758 0.0834728 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - -2 - 1 N - - SYCE1 Glu96Asp E96D not reviewed Insufficiently evaluated not reviewed unknown Array rs8181357 23 128 0.179688 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SYCP1 His519Asn H519N not reviewed Insufficiently evaluated not reviewed unknown Array rs61091884 194 10758 0.0180331 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYCP2 Thr353Lys T353K not reviewed Insufficiently evaluated not reviewed unknown Array 199 10714 0.0185738 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 3 - 2 - - SYCP2 Ile32Thr I32T not reviewed Insufficiently evaluated not reviewed unknown Array 208 10732 0.0193813 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - SYCP2L Val94Ile V94I not reviewed Insufficiently evaluated not reviewed unknown Array rs6456746 1184 9590 0.123462 17 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYCP2L Asn647Asp N647D not reviewed Insufficiently evaluated not reviewed unknown Array rs3798751 486 9504 0.0511364 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.927 - - -1 - 1 N - - SYCP2L Pro672Ser P672S not reviewed Insufficiently evaluated not reviewed unknown Array rs1225746 9157 9782 0.936107 55 0 92 0 0 - - - - - - - - - - - - - - - - 0.141 - - 3 - 0 N - - SYDE1 Ala256Thr A256T not reviewed Insufficiently evaluated not reviewed unknown Array rs2240297 764 6346 0.120391 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SYDE2 Val1157Ile V1157I not reviewed Insufficiently evaluated not reviewed unknown Array rs709786 9605 9616 0.998856 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYDE2 Val569Ile V569I not reviewed Insufficiently evaluated not reviewed unknown Array rs817443 9440 9596 0.983743 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYDE2 Val545Ile V545I not reviewed Insufficiently evaluated not reviewed unknown Array 5 9498 0.000526426 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYDE2 Ser422Leu S422L not reviewed Insufficiently evaluated not reviewed unknown Array rs56191061 440 10168 0.043273 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.928 - - 6 Y 2 N - - SYDE2 Gln175Pro Q175P not reviewed Insufficiently evaluated not reviewed unknown Array rs12121540 2122 9872 0.214951 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SYDE2 Glu118Gly E118G not reviewed Insufficiently evaluated not reviewed unknown Array rs817456 549 8698 0.063118 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SYF2 Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 2 - 2 N - - SYF2 Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYF2 Lys72Glu K72E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 2 - 1 - - SYMPK Val9Ile V9I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10608 0.00216817 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.159 - - -4 - 0 N - - SYN2 Thr36Pro T36P not reviewed Insufficiently evaluated not reviewed unknown Array 2835 2850 0.994737 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SYN2 Thr61Arg T61R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYN2 Ala64Pro A64P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYN2 Leu81Phe L81F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYN2 Gly103Ala G103A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYN2 Ala104Pro A104P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYN2 Thr505Ala T505A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYN3 Ser469Asn S469N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYN3 Ser470Asn S470N not reviewed Insufficiently evaluated not reviewed unknown Array rs5998526 711 10758 0.0660904 10 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYN3 Asp336Gly D336G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYN3 Asp337Gly D337G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYNC Glu352Ala E352A not reviewed Insufficiently evaluated not reviewed unknown Array rs3795424 287 10758 0.0266778 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYNC Arg274Gln R274Q not reviewed Insufficiently evaluated not reviewed unknown Array rs360042 2997 3234 0.926716 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYNC Met163Val M163V not reviewed Insufficiently evaluated not reviewed unknown Array rs360041 2996 3234 0.926407 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYNE1 Leu3265Met L3265M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Leu8693Met L8693M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Leu8741Met L8741M not reviewed Insufficiently evaluated not reviewed unknown Array rs2295190 1116 10758 0.103737 12 0 13 0 0 - - - - - - - - - - - - Y - - - 0.088 Y Y -3 - 2 N - - SYNE1 Leu926Met L926M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Arg3259Gln R3259Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Arg8687Gln R8687Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Arg8735Gln R8735Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2295192 414 10758 0.038483 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - SYNE1 Arg920Gln R920Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Thr3211Ile T3211I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Thr8639Ile T8639I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Thr8687Ile T8687I not reviewed Insufficiently evaluated not reviewed unknown Array rs35591210 573 10758 0.0532627 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 3 - 2 N - - SYNE1 Thr872Ile T872I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Gly2847Ala G2847A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Gly485Ala G485A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Gly8252Ala G8252A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Gly8323Ala G8323A not reviewed Insufficiently evaluated not reviewed unknown Array rs2252755 4040 10758 0.375534 27 0 35 0 0 2 Y - - - - - - - - - - Y - - - 0.003 Y Y 1 - 2 N - - SYNE1 Ala2692Ser A2692S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Ala330Ser A330S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Ala8097Ser A8097S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Ala8168Ser A8168S not reviewed Insufficiently evaluated not reviewed unknown Array rs17082236 1440 10758 0.133854 11 0 11 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - SYNE1 Ile2691Met I2691M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Ile329Met I329M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Ile8096Met I8096M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Ile8167Met I8167M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y -1 - 4 N - - SYNE1 Asp2439Asn D2439N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Asp77Asn D77N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Asp7844Asn D7844N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Asp7915Asn D7915N not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - SYNE1 Phe1826Val F1826V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Phe7231Val F7231V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Phe7302Val F7302V not reviewed Insufficiently evaluated not reviewed unknown Array rs2147377 10678 10758 0.992564 55 0 110 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - SYNE1 Leu6133Gln L6133Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SYNE1 Leu6204Gln L6204Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y 5 Y 2 N - - SYNE1 Leu728Gln L728Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SYNE1 Thr5355Met T5355M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Thr5426Met T5426M not reviewed Insufficiently evaluated not reviewed unknown Array rs2306914 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Leu4944Met L4944M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - 0.85 Y Y -3 - 4 N - - SYNE1 Leu5015Met L5015M not reviewed Insufficiently evaluated not reviewed unknown Array rs2306916 8696 10758 0.808329 56 0 101 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - SYNE1 Ser4525Thr S4525T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SYNE1 Ser4596Thr S4596T not reviewed Insufficiently evaluated not reviewed unknown Array rs6911096 8529 10756 0.792953 56 0 99 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - SYNE1 Val4475Ile V4475I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SYNE1 Val4546Ile V4546I not reviewed Insufficiently evaluated not reviewed unknown Array rs4870093 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y -4 - 2 N - - SYNE1 Lys4050Asn K4050N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Lys4121Asn K4121N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 1 - 2 N - - SYNE1 Lys4050Arg K4050R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Lys4121Arg K4121R not reviewed Insufficiently evaluated not reviewed unknown Array rs9479297 8436 10758 0.784161 45 0 79 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - SYNE1 Glu3989Asp E3989D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SYNE1 Glu4060Asp E4060D not reviewed Insufficiently evaluated not reviewed unknown Array rs4645434 6090 10758 0.56609 40 0 57 0 0 - Y - - - - - - - - - - Y - - - 0.005 Y Y -2 - 2 N - - SYNE1 Cys3950Arg C3950R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SYNE1 Cys4021Arg C4021R not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - SYNE1 Ser3954Thr S3954T not reviewed Insufficiently evaluated not reviewed unknown Array rs7775119 452 10758 0.0420152 7 0 8 0 0 - Y - - - - - - - - - - Y - - - 0.427 Y Y -2 - 3 N - - SYNE1 Lys3859Thr K3859T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Lys3874Thr K3874T not reviewed Insufficiently evaluated not reviewed unknown Array rs13210127 179 10758 0.0166388 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 3 - 2 N - - SYNE1 Lys3811Arg K3811R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Lys3826Arg K3826R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y -3 - 2 N - - SYNE1 Ala2795Val A2795V not reviewed Insufficiently evaluated not reviewed unknown Array rs214950 2101 10758 0.195297 25 0 30 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - SYNE1 Ala2802Val A2802V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Lys2157Arg K2157R not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.697 Y Y -3 - 3 N - - SYNE1 Lys2164Arg K2164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Asp1730Glu D1730E not reviewed Insufficiently evaluated not reviewed unknown Array 524 10756 0.048717 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 2 N - - SYNE1 Asp1737Glu D1737E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SYNE1 Thr1586Lys T1586K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10730 0.00102516 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 3 - 2 N - - SYNE1 Thr1593Lys T1593K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Arg1388Trp R1388W not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 7 Y 4 N - - SYNE1 Arg1395Trp R1395W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SYNE1 Val1035Ala V1035A not reviewed Insufficiently evaluated not reviewed unknown Array rs214976 5748 10758 0.5343 45 0 70 0 0 2 Y - - - - - - - - - - Y - - - 0.673 Y Y 2 - 2 N - - SYNE1 Val1042Ala V1042A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Leu885Val L885V not reviewed Insufficiently evaluated not reviewed unknown Array rs17082709 681 10758 0.0633017 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 0 - 2 N - - SYNE1 Leu892Val L892V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Arg843Cys R843C not reviewed Insufficiently evaluated not reviewed unknown Array rs34610829 231 10758 0.0214724 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.25 Y Y 8 Y 3 N - - SYNE1 Arg850Cys R850C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SYNE1 Glu726Gly E726G not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SYNE1 Glu733Gly E733G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 6 Y 2 N - - SYNE1 Gln655Arg Q655R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y 0 - 4 N - - SYNE1 Gln662Arg Q662R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE2 His134Asn H134N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SYNE2 Ser432Arg S432R not reviewed Insufficiently evaluated not reviewed unknown Array rs35554503 186 9636 0.0193026 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 1 - 1 - - SYNE2 Ile574Thr I574T not reviewed Insufficiently evaluated not reviewed unknown Array rs9944035 766 9432 0.0812129 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.294 - - 3 - 0 N - - SYNE2 Lys676Glu K676E not reviewed Insufficiently evaluated not reviewed unknown Array 60 9416 0.00637213 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - SYNE2 Arg968Ser R968S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - SYNE2 Ile1187Leu I1187L not reviewed Insufficiently evaluated not reviewed unknown Array rs57259697 300 9426 0.0318269 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SYNE2 Met1719Thr M1719T not reviewed Insufficiently evaluated not reviewed unknown Array rs73277546 50 9764 0.00512085 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - SYNE2 Leu1839Phe L1839F not reviewed Insufficiently evaluated not reviewed unknown Array rs35883188 66 9524 0.00692986 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - SYNE2 Met1969Thr M1969T not reviewed Insufficiently evaluated not reviewed unknown Array rs4902264 7099 9586 0.740559 45 0 71 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - SYNE2 Ala2284Val A2284V not reviewed Insufficiently evaluated not reviewed unknown Array rs4027402 7076 9554 0.740632 44 0 73 0 0 - - - - - - - - - - - - - - - - 0.289 - - 2 - 0 N - - SYNE2 Ala2347Glu A2347E not reviewed Insufficiently evaluated not reviewed unknown Array rs34625768 361 9586 0.0376591 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYNE2 Ser2359Gly S2359G not reviewed Insufficiently evaluated not reviewed unknown Array rs7157465 367 9666 0.0379681 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - SYNE2 Ser2359Asn S2359N not reviewed Insufficiently evaluated not reviewed unknown Array rs4027404 7434 9664 0.769247 45 0 73 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 0 N - - SYNE2 Ala2395Thr A2395T not reviewed Insufficiently evaluated not reviewed unknown Array rs4027405 8651 9836 0.879524 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SYNE2 Val2490Gly V2490G not reviewed Insufficiently evaluated not reviewed unknown Array rs34393543 35 9592 0.00364887 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYNE2 Ile2564Val I2564V not reviewed Insufficiently evaluated not reviewed unknown Array rs11628107 204 9436 0.0216193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNE2 Asn2633Ser N2633S not reviewed Insufficiently evaluated not reviewed unknown Array 18 9886 0.00182076 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Ser2802Gly S2802G not reviewed Insufficiently evaluated not reviewed unknown Array rs1890908 8832 9664 0.913907 55 0 102 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - SYNE2 Leu2856Arg L2856R not reviewed Insufficiently evaluated not reviewed unknown Array rs73277593 2 9676 0.000206696 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 0 N - - SYNE2 Ile2942Val I2942V not reviewed Insufficiently evaluated not reviewed unknown Array rs3829767 6950 9610 0.723205 44 0 73 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYNE2 Glu3026Asp E3026D not reviewed Insufficiently evaluated not reviewed unknown Array rs34843668 188 9406 0.0199872 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - SYNE2 Glu3030Lys E3030K not reviewed Insufficiently evaluated not reviewed unknown Array rs60466225 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - SYNE2 Asn3130Ser N3130S not reviewed Insufficiently evaluated not reviewed unknown Array rs11847087 695 9458 0.0734828 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - SYNE2 Asp3253His D3253H not reviewed Insufficiently evaluated not reviewed unknown Array rs8010911 7253 9796 0.740404 44 0 75 0 0 - - - - - - - - - - - - - - - - 0.933 - - 3 - 1 N - - SYNE2 His3309Arg H3309R not reviewed Insufficiently evaluated not reviewed unknown Array rs8010699 7309 9854 0.741729 42 0 71 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SYNE2 Cys3515Phe C3515F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 4 Y 1 N - - SYNE2 Glu3519Gly E3519G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.471 - - 6 Y 1 N - - SYNE2 Lys3523Gln K3523Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35203186 264 9754 0.0270658 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.75 - - -2 - 2 - 1 - - SYNE2 Leu3979Val L3979V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.279 - - 0 - 1 N - - SYNE2 Asn3982His N3982H not reviewed Insufficiently evaluated not reviewed unknown Array rs10137972 958 10758 0.08905 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 0 N - - SYNE2 Trp4001Arg W4001R not reviewed Insufficiently evaluated not reviewed unknown Array 824 10758 0.0765942 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - SYNE2 Trp4001Stop W4001X not reviewed Insufficiently evaluated not reviewed unknown Array 814 10758 0.0756646 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SYNE2 Arg4041His R4041H not reviewed Insufficiently evaluated not reviewed unknown Array rs17101661 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 1 - - SYNE2 Asn4187Ile N4187I not reviewed Insufficiently evaluated not reviewed unknown Array rs34480732 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - SYNE2 Ile4209Thr I4209T not reviewed Insufficiently evaluated not reviewed unknown Array rs61747118 233 10758 0.0216583 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - SYNE2 Pro4912Ala P4912A not reviewed Insufficiently evaluated not reviewed unknown Array rs17766354 411 10758 0.0382041 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 3 - 1 - - SYNE2 Glu4913Lys E4913K not reviewed Insufficiently evaluated not reviewed unknown Array rs12881815 396 10758 0.0368098 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.251 - - 0 - 2 - 1 - - SYNE2 Leu5186Met L5186M not reviewed Insufficiently evaluated not reviewed unknown Array rs10151658 6242 10758 0.580219 53 0 76 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SYNE2 Thr6211Met T6211M pathogenic Insufficiently evaluated pathogenic dominant Array 47 10758 0.00436884 0 0 0 1 1 2 Y 2 Y 0 Y 1 Y 4 Y 3 Y - - - - 0.526 - - 2 - 1 N - - This variant, also referred to as T89M, was associated with Emery Dreifuss muscular dystrophy in five individuals. SYNE2 Glu355Lys E355K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Glu482Lys E482K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Glu6811Lys E6811K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Glu6833Lys E6833K not reviewed Insufficiently evaluated not reviewed unknown Array rs58154675 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNGR2 Leu21Val L21V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SYNGR2 Ala28Ser A28S not reviewed Insufficiently evaluated not reviewed unknown Array 103 3532 0.0291619 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - SYNGR2 Val60Met V60M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SYNGR2 Phe111Leu F111L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SYNGR3 Val202Glu V202E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 1 N - - SYNGR3 Tyr208His Y208H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - SYNGR3 Tyr208Ser Y208S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SYNGR4 Val16Met V16M not reviewed Insufficiently evaluated not reviewed unknown Array rs60121852 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.802 - - 0 - 1 N - - SYNJ1 Val1319Ala V1319A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNJ1 Val1405Ala V1405A not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNJ1 Val1319Ile V1319I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNJ1 Val1405Ile V1405I not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNJ1 Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array rs2254562 41 128 0.320312 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.721 - - -3 - 0 N - - SYNJ1 Lys334Arg K334R not reviewed Insufficiently evaluated not reviewed unknown Array rs2254562 3196 10742 0.297524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SYNJ2 Glu66Gly E66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.311 - - 6 Y 1 N - - SYNJ2 Asn526Asp N526D not reviewed Insufficiently evaluated not reviewed unknown Array rs61601143 219 10758 0.0203569 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SYNJ2 Glu1468Gly E1468G not reviewed Insufficiently evaluated not reviewed unknown Array rs2502601 5754 10758 0.534858 40 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SYNM Lys354Asn K354N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNM Pro532Leu P532L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Arg567Stop R567X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNM Ala571Val A571V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNM Leu651Pro L651P not reviewed Insufficiently evaluated not reviewed unknown Array rs1670227 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Leu808Pro L808P not reviewed Insufficiently evaluated not reviewed unknown Array rs3743248 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Leu1065Ser L1065S not reviewed Insufficiently evaluated not reviewed unknown Array rs260087 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNM Gln1077Stop Q1077X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNM Glu1345Gln E1345Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYNM Arg1386Gly R1386G not reviewed Insufficiently evaluated not reviewed unknown Array rs2292288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNPO Arg437Cys R437C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10726 0.00111878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYNPO Val637Met V637M not reviewed Insufficiently evaluated not reviewed unknown Array 113 10756 0.0105058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNPO2 Gly154Ala G154A not reviewed Insufficiently evaluated not reviewed unknown Array rs12645298 2283 10758 0.212214 18 0 25 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - SYNPO2 Gln174His Q174H not reviewed Insufficiently evaluated not reviewed unknown Array rs17263971 2605 10758 0.242145 20 0 28 0 0 - - - - - - - - - - - - - - - - 0.305 - - -1 - 0 N - - SYNPO2 Ala179Thr A179T not reviewed Insufficiently evaluated not reviewed unknown Array rs17050152 445 10758 0.0413646 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNPO2 Thr573Ala T573A not reviewed Insufficiently evaluated not reviewed unknown Array rs7698598 9183 10758 0.853597 55 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SYNPO2 Ala898Ser A898S not reviewed Insufficiently evaluated not reviewed unknown Array rs72914806 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - SYNPO2 Arg1165Trp R1165W not reviewed Insufficiently evaluated not reviewed unknown Array rs61529635 222 10758 0.0206358 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNPO2 Met1233Thr M1233T not reviewed Insufficiently evaluated not reviewed unknown Array rs17050126 223 10758 0.0207288 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNPO2L Ser609Tyr S609Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34163229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYNPO2L Ser833Tyr S833Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34163229 1749 10724 0.163092 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SYNPO2L Pro483Leu P483L not reviewed Insufficiently evaluated not reviewed unknown Array rs3812629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNPO2L Pro707Leu P707L not reviewed Insufficiently evaluated not reviewed unknown Array rs3812629 1769 10758 0.164436 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SYNPO2L Pro284His P284H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYNPO2L Pro508His P508H not reviewed Insufficiently evaluated not reviewed unknown Array rs57006992 797 10018 0.0795568 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SYNPO2L Glu158Asp E158D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYNPO2L Glu382Asp E382D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYNPO2L Gly2Ser G2S not reviewed Insufficiently evaluated not reviewed unknown Array rs60632610 516 3234 0.159555 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYPL2 Glu99Gly E99G not reviewed Insufficiently evaluated not reviewed unknown Array rs62623713 481 10188 0.0472124 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.227 - - 6 Y 1 N - - SYT10 Leu56Gln L56Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - SYT11 Gln48His Q48H not reviewed Insufficiently evaluated not reviewed unknown Array rs822522 10260 10758 0.953709 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SYT12 Thr146Ala T146A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - 1 - 0 N - - SYT12 Ser335Arg S335R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - SYT12 Arg420Gln R420Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SYT15 Glu309Asp E309D not reviewed Insufficiently evaluated not reviewed unknown Array rs3127785 4895 10524 0.465127 44 0 45 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SYT15 Ser154Leu S154L not reviewed Insufficiently evaluated not reviewed unknown Array rs74128855 181 10160 0.017815 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - SYT15 Thr50Ile T50I not reviewed Insufficiently evaluated not reviewed unknown Array rs55894256 755 10616 0.0711191 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 0 N - - SYT16 Val10Ala V10A not reviewed Insufficiently evaluated not reviewed unknown Array rs8019076 7776 9754 0.797211 52 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYT16 Arg131Leu R131L not reviewed Insufficiently evaluated not reviewed unknown Array rs17099370 1503 9758 0.154027 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SYT2 Ile12Leu I12L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYT4 Ser142Asn S142N not reviewed Insufficiently evaluated not reviewed unknown Array rs16977447 441 10756 0.0410004 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYT4 Lys131Ile K131I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 6 Y 2 N - - SYT5 Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11542503 420 10758 0.0390407 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.44 - - 0 - 1 N - - SYT5 Val27Met V27M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10716 0.00401269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SYT5 Glu4Asp E4D not reviewed Insufficiently evaluated not reviewed unknown Array rs2301279 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - SYT6 Thr208Ile T208I not reviewed Insufficiently evaluated not reviewed unknown Array rs41274114 1990 10758 0.184979 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SYT8 His17Gln H17Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57344881 1326 10758 0.123257 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SYT8 Cys120Arg C120R not reviewed Insufficiently evaluated not reviewed unknown Array rs564271 10586 10758 0.984012 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SYT8 Pro219Ala P219A not reviewed Insufficiently evaluated not reviewed unknown Array rs3741231 3608 10752 0.335565 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYT8 Thr303Met T303M not reviewed Insufficiently evaluated not reviewed unknown Array rs484955 1085 10758 0.100855 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYT8 Arg373Trp R373W not reviewed Insufficiently evaluated not reviewed unknown Array rs2292474 4048 10556 0.383479 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SYTL1 Gly365Asp G365D not reviewed Insufficiently evaluated not reviewed unknown Array 283 10758 0.026306 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SYTL1 Gln444Arg Q444R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813795 6418 10752 0.596912 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYTL2 Pro715Thr P715T not reviewed Insufficiently evaluated not reviewed unknown Array rs73502601 435 10758 0.040435 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYTL2 Glu626Lys E626K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYTL2 Thr383Met T383M not reviewed Insufficiently evaluated not reviewed unknown Array rs641393 6037 10756 0.561268 41 0 55 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYTL2 Asp369Gly D369G not reviewed Insufficiently evaluated not reviewed unknown Array rs556669 7682 10758 0.714073 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SYTL2 Met334Val M334V not reviewed Insufficiently evaluated not reviewed unknown Array rs580459 7682 10758 0.714073 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYTL2 Ala211Gly A211G not reviewed Insufficiently evaluated not reviewed unknown Array rs597480 6046 10758 0.562 42 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SYTL3 Pro346Ser P346S not reviewed Insufficiently evaluated not reviewed unknown Array rs901363 3472 10758 0.322737 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SYTL3 Leu519Gln L519Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3123101 7662 10758 0.712214 42 0 63 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SYTL4 Leu574Val L574V not reviewed Insufficiently evaluated not reviewed unknown Array 52 8761 0.0059354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - SYTL4 Ile420Val I420V not reviewed Insufficiently evaluated not reviewed unknown Array rs2022039 7991 8761 0.912111 49 0 97 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYTL5 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array rs57226394 490 8759 0.0559425 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.771 - - 8 Y 1 - 2 - - T Asn369Ser N369S not reviewed Insufficiently evaluated not reviewed unknown Array rs3816300 1416 10746 0.13177 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - T Gly356Ser G356S not reviewed Insufficiently evaluated not reviewed unknown Array rs3127328 1634 10708 0.152596 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - T Gly177Asp G177D not reviewed Insufficiently evaluated not reviewed unknown Array rs2305089 4588 10758 0.426473 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - TAAR1 Tyr173His Y173H not reviewed Insufficiently evaluated not reviewed unknown Array rs73557824 10 10754 0.000929886 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TAAR2 Trp123Stop W123X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - TAAR2 Trp168Stop W168X not reviewed Insufficiently evaluated not reviewed unknown Array rs8192646 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - TAAR2 Ser130Phe S130F not reviewed Insufficiently evaluated not reviewed unknown Array rs61731216 319 10758 0.0296524 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TAAR2 Ser85Phe S85F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAAR2 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73775147 319 10758 0.0296524 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TAAR2 Phe13Leu F13L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.287 - - 0 - 1 N - - TAAR5 Thr282Ile T282I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - TAAR5 Asp114Val D114V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - TAAR6 Tyr99Cys Y99C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 6 Y 2 N - - TAAR6 Phe115Ile F115I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 2 - 2 N - - TAAR6 Ala228Val A228V not reviewed Insufficiently evaluated not reviewed unknown Array rs17061409 9 126 0.0714286 8 0 8 0 0 - - - - - - - - - - - - Y - - - 0.939 - - 2 - 1 N - - TAAR6 Val265Ile V265I not reviewed Insufficiently evaluated not reviewed unknown Array rs8192624 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 - 3 - - TAAR6 Cys291Tyr C291Y not reviewed Insufficiently evaluated not reviewed unknown Array rs8192625 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - TAAR8 Asp328Ala D328A not reviewed Insufficiently evaluated not reviewed unknown Array rs8192627 5 128 0.0390625 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - TAAR9 Ala278Thr A278T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAC3 Ser99Pro S99P not reviewed Insufficiently evaluated not reviewed unknown Array rs73334764 300 10758 0.0278862 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - TACC1 Ile243Thr I243T not reviewed Insufficiently evaluated not reviewed unknown Array rs6980553 127 10756 0.0118074 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TACC1 Ile48Thr I48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TACC1 Ser204Asn S204N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TACC1 Ser399Asn S399N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 1 - 1 - - TACC2 Val170Ile V170I not reviewed Insufficiently evaluated not reviewed unknown Array rs11200385 2849 10758 0.264826 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TACC2 Thr644Met T644M not reviewed Insufficiently evaluated not reviewed unknown Array rs60531929 371 10756 0.0344924 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - TACC2 Glu719Asp E719D not reviewed Insufficiently evaluated not reviewed unknown Array rs41288002 401 10758 0.0372746 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - TACC2 Leu830Phe L830F not reviewed Insufficiently evaluated not reviewed unknown Array rs10887063 2470 10758 0.229597 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TACC2 Glu1034Lys E1034K not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - TACC2 Ala1066Thr A1066T not reviewed Insufficiently evaluated not reviewed unknown Array rs11200387 2022 10754 0.188023 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TACC2 Met1100Arg M1100R not reviewed Insufficiently evaluated not reviewed unknown Array rs58421538 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TACC2 Trp1103Arg W1103R not reviewed Insufficiently evaluated not reviewed unknown Array rs7073433 10628 10758 0.987916 53 0 104 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - TACC2 Asp1393Asn D1393N not reviewed Insufficiently evaluated not reviewed unknown Array rs73370132 152 10758 0.014129 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.927 - - -1 - 2 N - - TACC2 Ala1425Thr A1425T not reviewed Insufficiently evaluated not reviewed unknown Array rs4752642 2871 10758 0.266871 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TACC2 Glu1916Lys E1916K not reviewed Insufficiently evaluated not reviewed unknown Array rs12765679 1876 10758 0.174382 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - TACC2 Pro119His P119H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TACC2 Pro1973His P1973H not reviewed Insufficiently evaluated not reviewed unknown Array rs58106543 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TACC2 Pro51His P51H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TACC2 Ile156Thr I156T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TACC2 Ile2078Thr I2078T not reviewed Insufficiently evaluated not reviewed unknown Array rs7083331 1204 10758 0.111917 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - TACC2 Ile224Thr I224T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TACC2 Asn180Ser N180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TACC2 Asn2102Ser N2102S not reviewed Insufficiently evaluated not reviewed unknown Array rs3750843 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 1 - 3 - - TACC2 Asn248Ser N248S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TACC2 Val2197Ala V2197A not reviewed Insufficiently evaluated not reviewed unknown Array rs2295873 3195 10752 0.297154 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TACC2 Val275Ala V275A not reviewed Insufficiently evaluated not reviewed unknown Array rs2295873 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Val343Ala V343A not reviewed Insufficiently evaluated not reviewed unknown Array rs2295873 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Ala2210Val A2210V not reviewed Insufficiently evaluated not reviewed unknown Array rs2295874 1050 10748 0.0976926 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TACC2 Ala288Val A288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Ala356Val A356V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Pro2216Leu P2216L not reviewed Insufficiently evaluated not reviewed unknown Array rs2295875 15 10746 0.00139587 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - TACC2 Pro294Leu P294L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TACC2 Pro362Leu P362L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TACC2 Leu2261His L2261H not reviewed Insufficiently evaluated not reviewed unknown Array rs2295876 973 10758 0.0904443 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 1 N - - TACC2 Leu339His L339H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC2 Leu407His L407H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC2 Thr2482Met T2482M not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - TACC2 Thr560Met T560M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.75 - - 2 - 1 N - - TACC2 Thr628Met T628M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Val2718Ile V2718I not reviewed Insufficiently evaluated not reviewed unknown Array rs2295878 9 10758 0.000836586 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 1 N - - TACC2 Val766Ile V766I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TACC2 Val796Ile V796I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TACC2 Val864Ile V864I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TACC2 Ala2732Thr A2732T not reviewed Insufficiently evaluated not reviewed unknown Array rs2295879 2735 10758 0.254229 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TACC2 Ala780Thr A780T not reviewed Insufficiently evaluated not reviewed unknown Array rs2295879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC2 Ala810Thr A810T not reviewed Insufficiently evaluated not reviewed unknown Array rs2295879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC2 Ala878Thr A878T not reviewed Insufficiently evaluated not reviewed unknown Array rs2295879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC2 Asp2746Asn D2746N not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - TACC2 Asp794Asn D794N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TACC2 Asp824Asn D824N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TACC2 Asp892Asn D892N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TACC2 Ser1055Thr S1055T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TACC2 Ser2909Thr S2909T not reviewed Insufficiently evaluated not reviewed unknown Array rs56075957 566 10758 0.052612 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -2 - 1 N - - TACC2 Ser957Thr S957T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TACC2 Ser987Thr S987T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TACC3 Leu268Gln L268Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 5 Y 1 N - - TACC3 Cys275Tyr C275Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17132047 2030 10722 0.18933 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.907 - - 6 Y 1 N - - TACC3 Gly287Ser G287S not reviewed Insufficiently evaluated not reviewed unknown Array rs1063743 2329 10750 0.216651 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TACC3 Leu477Trp L477W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 5 Y 0 N - - TACC3 Gly514Glu G514E not reviewed Insufficiently evaluated not reviewed unknown Array rs17680881 2345 10756 0.218018 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 0 N - - TACC3 Arg678Ser R678S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - TACR2 His395Arg H395R not reviewed Insufficiently evaluated not reviewed unknown Array rs58692969 668 10754 0.0621164 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TACR2 Arg375His R375H not reviewed Insufficiently evaluated not reviewed unknown Array rs2229170 1492 10758 0.138687 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TACR2 Thr363Ala T363A not reviewed Insufficiently evaluated not reviewed unknown Array rs57900755 678 10758 0.0630229 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TACR2 Met245Lys M245K not reviewed Insufficiently evaluated not reviewed unknown Array rs55953810 16 16 1 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TACR2 Gly231Glu G231E not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACR2 Ser218Thr S218T not reviewed Insufficiently evaluated not reviewed unknown Array 242 10756 0.0224991 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TACR2 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array rs57500981 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACR2 Ile23Thr I23T not reviewed Insufficiently evaluated not reviewed unknown Array rs5030920 2974 10758 0.276445 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TACR2 Asp5Gly D5G not reviewed Insufficiently evaluated not reviewed unknown Array rs61732394 261 10758 0.024261 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TACR3 Lys286Arg K286R not reviewed Insufficiently evaluated not reviewed unknown Array rs2276973 86 10758 0.00799405 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 1 - 4 - - TACSTD2 Ser322Ile S322I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.838 - - 5 Y 1 N - - TACSTD2 Asp216Glu D216E not reviewed Insufficiently evaluated not reviewed unknown Array rs14008 1604 10730 0.149487 15 0 20 0 0 - - - - - - - - - - - - Y - - - 0.001 - - -2 - 1 - 4 - - TACSTD2 Asp173Ala D173A not reviewed Insufficiently evaluated not reviewed unknown Array rs35075952 1273 10730 0.118639 6 0 5 0 0 - - - - - - - - - - - - Y - - - 0.537 - - 5 Y 0 N - - TACSTD2 Glu147Asp E147D not reviewed Insufficiently evaluated not reviewed unknown Array rs1062964 636 10744 0.0591958 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.738 - - -2 - 1 - 2 - - TADA1L Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TADA1L Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TADA2L Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAF1 Pro210Ser P210S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - TAF1 Pro231Ser P231S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - TAF11 Thr68Arg T68R not reviewed Insufficiently evaluated not reviewed unknown Array rs15922 375 10758 0.0348578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - TAF15 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAF15 Arg395Gln R395Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAF1A Ser330Arg S330R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAF1A Ser444Arg S444R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - TAF1B Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303914 4502 10192 0.441719 31 0 43 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - TAF1B Asp273Glu D273E not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - TAF1B Val282Ile V282I not reviewed Insufficiently evaluated not reviewed unknown Array rs396190 10016 10758 0.931028 52 0 93 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAF1B Thr351Ala T351A not reviewed Insufficiently evaluated not reviewed unknown Array rs1054565 5505 10758 0.511712 31 0 43 0 0 - - - - - - - - - - - - - - - - 0.588 - - 1 - 0 N - - TAF1B Asp412His D412H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - TAF1B Glu462Asp E462D not reviewed Insufficiently evaluated not reviewed unknown Array rs1820965 5527 10758 0.513757 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TAF1B Thr487Met T487M not reviewed Insufficiently evaluated not reviewed unknown Array rs16867245 897 10758 0.0833798 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.517 - - 2 - 0 N - - TAF1C Pro699Leu P699L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230131 1390 10740 0.129423 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAF1C Pro793Leu P793L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230131 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - TAF1C Leu692Val L692V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - TAF1C Leu786Val L786V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TAF1C Leu481Met L481M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230129 2874 9840 0.292073 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TAF1C Leu575Met L575M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - TAF1C Gly154Glu G154E not reviewed Insufficiently evaluated not reviewed unknown Array 126 10744 0.0117275 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAF1C Gly221Glu G221E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - TAF1C Cys24Tyr C24Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4782591 10734 10754 0.99814 57 0 112 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TAF1C Cys91Tyr C91Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4782591 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAF1L Met371Val M371V not reviewed Insufficiently evaluated not reviewed unknown Array rs17219559 778 10758 0.0723183 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - TAF2 Thr1139Ala T1139A not reviewed Insufficiently evaluated not reviewed unknown Array rs956748 2041 10758 0.189719 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAF2 Ser1122Asn S1122N not reviewed Insufficiently evaluated not reviewed unknown Array rs956749 1236 10758 0.114891 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAF2 Ser447Thr S447T not reviewed Insufficiently evaluated not reviewed unknown Array rs9297605 7806 10756 0.725734 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TAF2 Ile53Val I53V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TAF2 Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array rs17818842 1471 10758 0.136735 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAF3 Ile330Phe I330F not reviewed Insufficiently evaluated not reviewed unknown Array rs61731331 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 1 N - - TAF3 Asn442Ser N442S not reviewed Insufficiently evaluated not reviewed unknown Array rs4747647 64 128 0.5 38 0 53 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 1 N - - TAF3 Val696Leu V696L not reviewed Insufficiently evaluated not reviewed unknown Array rs10795583 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - TAF3 Val696Ala V696A not reviewed Insufficiently evaluated not reviewed unknown Array rs1244229 23 128 0.179688 11 0 17 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TAF4 Lys795Asn K795N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - TAF4 Thr558Met T558M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 2 - 2 N - - TAF4 Ser136Ala S136A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAF4B Ala44Pro A44P not reviewed Insufficiently evaluated not reviewed unknown Array 153 9670 0.0158221 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAF4B Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 87 9852 0.00883069 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAF4B Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 88 9850 0.00893401 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAF4B Gln332Arg Q332R not reviewed Insufficiently evaluated not reviewed unknown Array 201 9902 0.0202989 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - TAF4B Val438Leu V438L not reviewed Insufficiently evaluated not reviewed unknown Array rs74947492 813 9958 0.0816429 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - TAF4B Asn539Ser N539S not reviewed Insufficiently evaluated not reviewed unknown Array rs12963653 2201 9800 0.224592 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAF4B Phe654Cys F654C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TAF5 Ser130Ala S130A not reviewed Insufficiently evaluated not reviewed unknown Array rs10883859 2241 8988 0.249332 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TAF6 Pro625Leu P625L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - TAF6 Pro635Leu P635L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - TAF6 Gly75Ala G75A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - TAF6 Gly85Ala G85A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 1 - 2 N - - TAF6L Leu216Met L216M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.158 - - -3 - 0 N - - TAF7L Ser308Gly S308G not reviewed Insufficiently evaluated not reviewed unknown Array rs35899692 1552 8761 0.177149 20 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TAF7L Leu34Pro L34P not reviewed Insufficiently evaluated not reviewed unknown Array rs5951328 8685 8761 0.991325 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAGAP Ser166Asn S166N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TAGAP Ser344Asn S344N not reviewed Insufficiently evaluated not reviewed unknown Array rs61753626 80 10756 0.00743771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - TAGLN2 Arg127Gln R127Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - TAGLN2 Thr60Met T60M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.783 - - 2 - 1 N - - TANC1 Pro30Ser P30S not reviewed Insufficiently evaluated not reviewed unknown Array rs34588551 2686 9952 0.269895 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - TANC1 Asn250Ser N250S not reviewed Insufficiently evaluated not reviewed unknown Array rs12466551 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TANC1 Asn251Ser N251S not reviewed Insufficiently evaluated not reviewed unknown Array rs12466551 9641 9760 0.987807 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TANC1 Arg263Cys R263C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TANC1 Arg264Cys R264C not reviewed Insufficiently evaluated not reviewed unknown Array rs55929944 337 9952 0.0338625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - TANC1 Ser463Arg S463R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TANC1 Ser471Arg S471R not reviewed Insufficiently evaluated not reviewed unknown Array 80 9794 0.00816827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TANC1 Gly1511Ser G1511S not reviewed Insufficiently evaluated not reviewed unknown Array rs13421084 750 10028 0.0747906 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - TANC1 Thr1573Ala T1573A not reviewed Insufficiently evaluated not reviewed unknown Array rs4664277 3473 9898 0.350879 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TANC1 His1825Tyr H1825Y not reviewed Insufficiently evaluated not reviewed unknown Array 395 9904 0.0398829 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - TANC2 Ser1147Pro S1147P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10162 0.000196811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TANK Gly292Arg G292R not reviewed Insufficiently evaluated not reviewed unknown Array rs10183668 532 10758 0.0494516 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - TAOK2 Pro778Ser P778S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737884 96 10756 0.00892525 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - TAOK2 Ala867Val A867V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - TAOK2 Arg898Trp R898W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAOK3 Ser47Asn S47N not reviewed Insufficiently evaluated not reviewed unknown Array rs428073 7647 10758 0.71082 52 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAP1 Gln788Lys Q788K not reviewed Insufficiently evaluated not reviewed unknown Array 21 7522 0.00279181 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.689 - - -2 - 1 N - - TAP1 Arg708Gln R708Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1057149 503 7524 0.0668527 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - TAP1 Asp697Gly D697G not reviewed Insufficiently evaluated not reviewed unknown Array rs1135216 1290 7520 0.171543 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TAP1 Val578Ile V578I not reviewed Insufficiently evaluated not reviewed unknown Array rs41561219 296 10758 0.0275144 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.217 - - -4 - 1 N - - TAP1 Val518Leu V518L not reviewed Insufficiently evaluated not reviewed unknown Array rs41550019 506 7522 0.0672693 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 0 N - - TAP1 Ala430Val A430V not reviewed Insufficiently evaluated not reviewed unknown Array rs2127679 296 10758 0.0275144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAP1 Ile393Val I393V not reviewed Insufficiently evaluated not reviewed unknown Array rs1057141 1483 7522 0.197155 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAP1 Val304Leu V304L not reviewed Insufficiently evaluated not reviewed unknown Array rs36229525 58 7522 0.00771071 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 4 - - TAP1 Gly77Arg G77R not reviewed Insufficiently evaluated not reviewed unknown Array rs57640466 61 7456 0.00818133 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAP2 Leu647Phe L647F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAP2 Thr665Ala T665A not reviewed Insufficiently evaluated not reviewed unknown Array rs241447 1258 6420 0.19595 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAP2 Ala609Val A609V not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAP2 Ala578Val A578V not reviewed Insufficiently evaluated not reviewed unknown Array 10 7518 0.00133014 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAP2 Ala565Thr A565T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228396 744 7524 0.0988836 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAP2 Val379Ile V379I not reviewed Insufficiently evaluated not reviewed unknown Array rs1800454 1044 7522 0.138793 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAPBP Thr260Arg T260R not reviewed Insufficiently evaluated not reviewed unknown Array rs2071888 6562 10758 0.609965 44 0 68 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TAPBPL Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array rs2041385 2492 10754 0.231728 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TAPBPL Asp80Asn D80N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.819 - - -1 - 1 N - - TAPBPL Met146Val M146V not reviewed Insufficiently evaluated not reviewed unknown Array rs2532501 7078 10758 0.657929 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAPBPL Thr165Ala T165A not reviewed Insufficiently evaluated not reviewed unknown Array rs2532500 7076 10758 0.657743 43 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAPBPL Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array rs2041387 2857 10758 0.26557 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - TAPBPL Thr334Met T334M not reviewed Insufficiently evaluated not reviewed unknown Array rs1045546 1549 10758 0.143986 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.151 - - 2 - 0 N - - TARBP1 Lys1122Arg K1122R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10752 0.00279018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - TARBP1 Asn743Ser N743S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273872 35 10758 0.00325339 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TARBP1 Ser678Gly S678G not reviewed Insufficiently evaluated not reviewed unknown Array rs4920246 3170 10758 0.294664 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TARBP1 Asp513Gly D513G not reviewed Insufficiently evaluated not reviewed unknown Array rs35562024 241 10758 0.0224019 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 3 - 2 - - TARBP1 Ala425Thr A425T not reviewed Insufficiently evaluated not reviewed unknown Array rs10910439 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 1 - 4 - - TARBP1 Ser392Thr S392T not reviewed Insufficiently evaluated not reviewed unknown Array rs60079444 609 10758 0.056609 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TARBP1 Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array 58 2296 0.0252613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - TARP Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TARP Met79Thr M79T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TARP Cys59Tyr C59Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - TARP Asn58Ser N58S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TARP Lys18Glu K18E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TARS Ile546Val I546V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -4 - 1 N - - TARS Arg619Ser R619S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - TARSL2 Ala96Gly A96G not reviewed Insufficiently evaluated not reviewed unknown Array rs1143138 1319 7104 0.18567 14 0 19 0 0 - - - - - - - - - - - - - - - - 0.651 - - 1 - 0 N - - TARSL2 Ala39Ser A39S not reviewed Insufficiently evaluated not reviewed unknown Array rs1143136 1900 9178 0.207017 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TAS1R1 Gln181Glu Q181E not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - TAS1R1 Lys347Glu K347E not reviewed Insufficiently evaluated not reviewed unknown Array rs10864628 9898 10758 0.92006 54 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS1R1 Ala372Thr A372T not reviewed Insufficiently evaluated not reviewed unknown Array rs34160967 1162 10758 0.108013 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAS1R1 Arg253Gln R253Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - TAS1R1 Arg507Gln R507Q not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 2 - 4 - - TAS1R1 Arg349Cys R349C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TAS1R1 Arg603Cys R603C not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - TAS1R1 Met354Thr M354T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS1R1 Met608Thr M608T not reviewed Insufficiently evaluated not reviewed unknown Array rs58864779 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - TAS1R2 Arg838Lys R838K not reviewed Insufficiently evaluated not reviewed unknown Array rs9988418 570 10758 0.0529838 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TAS1R2 Ala574Thr A574T not reviewed Insufficiently evaluated not reviewed unknown Array rs6662276 557 10758 0.0517754 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAS1R2 Ile486Val I486V not reviewed Insufficiently evaluated not reviewed unknown Array rs28374389 2008 10758 0.186652 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS1R2 Arg317Pro R317P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 3 - 2 - - TAS1R2 Arg317Gly R317G not reviewed Insufficiently evaluated not reviewed unknown Array rs34447754 3195 10756 0.297044 30 0 35 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - TAS1R2 Leu264Met L264M not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.326 - - -3 - 1 N - - TAS1R2 Ser212Gly S212G not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - TAS1R2 Ile191Val I191V not reviewed Insufficiently evaluated not reviewed unknown Array rs35874116 3456 10758 0.321249 33 0 39 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TAS1R2 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array rs72953144 245 10758 0.0227737 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - TAS1R2 Ser9Cys S9C not reviewed Insufficiently evaluated not reviewed unknown Array rs9701796 8527 10758 0.792619 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TAS1R3 Arg369His R369H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - TAS1R3 Thr716Lys T716K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 3 - 2 N - - TAS1R3 Cys757Arg C757R not reviewed Insufficiently evaluated not reviewed unknown Array rs307377 124 126 0.984127 53 0 105 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TAS2R1 Arg206Trp R206W not reviewed Insufficiently evaluated not reviewed unknown Array rs2234233 1368 10758 0.127161 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - TAS2R1 Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array rs41469 292 10758 0.0271426 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAS2R10 Met207Ile M207I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAS2R10 Thr156Met T156M not reviewed Insufficiently evaluated not reviewed unknown Array rs597468 10089 10738 0.93956 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TAS2R13 Asn259Ser N259S not reviewed Insufficiently evaluated not reviewed unknown Array rs1015443 4937 10758 0.458914 40 0 60 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TAS2R14 Ile118Val I118V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -4 - 0 N - - TAS2R16 Ile234Asn I234N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - TAS2R16 Ile234Phe I234F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.234 - - 2 - 1 N - - TAS2R16 Phe233Cys F233C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 2 N - - TAS2R16 Leu232Ile L232I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - -2 - 0 N - - TAS2R16 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array rs860170 8149 10758 0.757483 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAS2R16 Asn172Lys N172K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs846664 1031 10758 0.0958357 9 0 10 1 1 - - - - - - - - - - - - - - - Y - - - 1 - 1 N - - TAS2R16 Glu17Lys E17K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.925 - - 0 - 2 N - - TAS2R19 Arg299Cys R299C not reviewed Insufficiently evaluated not reviewed unknown Array rs10772420 48 124 0.387097 33 0 42 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 1 N - - TAS2R19 Phe290Ser F290S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.72 - - 5 Y 1 N - - TAS2R19 Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 6 Y 0 N - - TAS2R19 Ala227Pro A227P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 2 - 1 N - - TAS2R19 Lys167Glu K167E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - TAS2R19 Tyr158Phe Y158F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - -4 - 0 N - - TAS2R19 Pro136Ser P136S not reviewed Insufficiently evaluated not reviewed unknown Array 6 114 0.0526316 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TAS2R19 Val129Leu V129L not reviewed Insufficiently evaluated not reviewed unknown Array rs73047160 6 120 0.05 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - TAS2R19 Lys126Gln K126Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12424373 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TAS2R19 Leu102Phe L102F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - TAS2R19 Val32Ile V32I not reviewed Insufficiently evaluated not reviewed unknown Array rs56985810 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.048 - - -4 - 0 N - - TAS2R19 Gly20Glu G20E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TAS2R20 Arg255Leu R255L not reviewed Insufficiently evaluated not reviewed unknown Array rs10845279 2846 10758 0.264547 24 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TAS2R20 Phe252Ser F252S not reviewed Insufficiently evaluated not reviewed unknown Array rs10845280 2845 10758 0.264454 24 0 36 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TAS2R20 Ile236Val I236V not reviewed Insufficiently evaluated not reviewed unknown Array rs10845281 2846 10758 0.264547 24 0 36 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - TAS2R20 His148Asn H148N not reviewed Insufficiently evaluated not reviewed unknown Array rs12226919 2916 10758 0.271054 24 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R20 His143Gln H143Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12226920 2842 10758 0.264176 24 0 36 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - TAS2R20 Val141Ile V141I not reviewed Insufficiently evaluated not reviewed unknown Array 1610 10758 0.149656 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R20 Lys79Glu K79E not reviewed Insufficiently evaluated not reviewed unknown Array rs7135018 2331 10610 0.219698 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TAS2R30 Thr312Arg T312R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10022 0.000399121 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R30 Phe252Leu F252L not reviewed Insufficiently evaluated not reviewed unknown Array rs2599404 4972 10754 0.46234 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R30 Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TAS2R30 Val162Met V162M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R31 Pro276Arg P276R not reviewed Insufficiently evaluated not reviewed unknown Array rs12318612 2147 10096 0.212658 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.441 - - 5 Y 0 N - - TAS2R31 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array rs10772423 4748 10758 0.441346 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R31 Ala227Val A227V not reviewed Insufficiently evaluated not reviewed unknown Array rs10845293 4914 10758 0.456776 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - TAS2R31 Cys200Tyr C200Y not reviewed Insufficiently evaluated not reviewed unknown Array 79 10756 0.00734474 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - TAS2R31 Leu162Met L162M not reviewed Insufficiently evaluated not reviewed unknown Array rs10743938 7342 10680 0.687453 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TAS2R31 Gly160Val G160V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.359 - - 8 Y 1 N - - TAS2R31 His120Arg H120R not reviewed Insufficiently evaluated not reviewed unknown Array 3806 10316 0.368941 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - TAS2R31 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array rs73049067 3398 10502 0.323557 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - TAS2R31 Val87Ile V87I not reviewed Insufficiently evaluated not reviewed unknown Array rs73049072 4175 10470 0.398758 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R31 Val80Leu V80L not reviewed Insufficiently evaluated not reviewed unknown Array 3362 10418 0.322711 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R31 Tyr76Cys Y76C not reviewed Insufficiently evaluated not reviewed unknown Array 961 10392 0.092475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - TAS2R31 Arg35Trp R35W not reviewed Insufficiently evaluated not reviewed unknown Array rs10845295 4438 10038 0.44212 37 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAS2R38 Ile296Val I296V benign Low clinical importance, Uncertain benign unknown Array rs10246939 4985 10758 0.463376 44 0 59 2 2 2 Y - - 2 Y - - - - - - - Y - - 0.984 Y Y -4 - 5 N 0 0 This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC. TAS2R38 Ala262Val A262V not reviewed Insufficiently evaluated not reviewed unknown Array rs1726866 5093 10758 0.473415 37 0 48 0 0 2 Y - - - - - - - - - - - - - - 0.01 Y Y 2 - 2 N - - TAS2R38 Ala49Pro A49P benign Low clinical importance, Uncertain benign unknown Array rs713598 4638 10758 0.431121 37 0 50 3 3 1 Y - - 5 Y 5 Y - - - - - Y - - - Y Y 2 - 4 N 0 0 This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner. TAS2R39 Ser193Phe S193F not reviewed Insufficiently evaluated not reviewed unknown Array rs35474877 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - TAS2R39 Lys197Glu K197E not reviewed Insufficiently evaluated not reviewed unknown Array rs34169190 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TAS2R4 Phe7Ser F7S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233998 4315 10758 0.401097 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.468 - - 5 Y 0 N - - TAS2R4 Thr74Met T74M not reviewed Insufficiently evaluated not reviewed unknown Array rs2234000 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TAS2R4 Val96Leu V96L not reviewed Insufficiently evaluated not reviewed unknown Array rs2234001 4837 10758 0.449619 39 0 51 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TAS2R4 Ser171Asn S171N not reviewed Insufficiently evaluated not reviewed unknown Array rs2234002 4442 10758 0.412902 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R40 Ser187Tyr S187Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10260248 12 128 0.09375 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.03 - - 5 Y 0 N - - TAS2R41 Pro127Leu P127L not reviewed Insufficiently evaluated not reviewed unknown Array rs10278721 2019 9904 0.203857 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAS2R42 Ala311Pro A311P not reviewed Insufficiently evaluated not reviewed unknown Array rs1650017 7117 10758 0.661554 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TAS2R42 Arg292Gln R292Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1669412 2561 10758 0.238055 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - TAS2R42 Tyr265Cys Y265C not reviewed Insufficiently evaluated not reviewed unknown Array rs1451772 2561 10756 0.2381 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.374 - - 6 Y 0 N - - TAS2R42 Gly255Trp G255W not reviewed Insufficiently evaluated not reviewed unknown Array rs1669413 7680 10756 0.71402 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAS2R42 Phe196Ser F196S not reviewed Insufficiently evaluated not reviewed unknown Array rs5020531 5037 10736 0.469169 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TAS2R42 Tyr175Phe Y175F not reviewed Insufficiently evaluated not reviewed unknown Array rs35969491 4944 10604 0.466239 42 0 62 0 0 - - - - - - - - - - - - - - - - 0.576 - - -4 - 0 N - - TAS2R43 Trp300Stop W300X not reviewed Insufficiently evaluated not reviewed unknown Array 1558 9634 0.161719 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - TAS2R43 Arg298Thr R298T not reviewed Insufficiently evaluated not reviewed unknown Array 5 9750 0.00051282 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R43 Phe294Leu F294L not reviewed Insufficiently evaluated not reviewed unknown Array rs73064960 1878 9780 0.192025 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R43 Phe290Tyr F290Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73064961 1870 9798 0.190855 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R43 Cys238Arg C238R not reviewed Insufficiently evaluated not reviewed unknown Array 589 10608 0.0555241 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 - 2 - - TAS2R43 Leu235Phe L235F not reviewed Insufficiently evaluated not reviewed unknown Array rs73064963 1636 10614 0.154136 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R43 Ala227Val A227V not reviewed Insufficiently evaluated not reviewed unknown Array rs73064964 2586 10600 0.243962 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TAS2R43 His212Arg H212R not reviewed Insufficiently evaluated not reviewed unknown Array rs71443637 3826 10374 0.368807 14 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAS2R43 Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array 593 9576 0.0619256 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R43 Val182Leu V182L not reviewed Insufficiently evaluated not reviewed unknown Array 495 9460 0.0523256 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R43 Met177Thr M177T not reviewed Insufficiently evaluated not reviewed unknown Array 456 9402 0.0485003 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS2R43 Phe174Leu F174L not reviewed Insufficiently evaluated not reviewed unknown Array 431 9386 0.0459195 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R43 Leu108Phe L108F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R43 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array 296 8698 0.0340308 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAS2R43 Val80Leu V80L not reviewed Insufficiently evaluated not reviewed unknown Array rs73064968 1060 9404 0.112718 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R43 Trp35Ser W35S not reviewed Insufficiently evaluated not reviewed unknown Array rs68157013 3873 8862 0.437035 20 0 34 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TAS2R46 Ser254Asn S254N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R46 Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R46 Trp250Stop W250X not reviewed Insufficiently evaluated not reviewed unknown Array rs2708381 2444 10758 0.22718 21 0 22 0 0 1 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - TAS2R46 Leu228Met L228M not reviewed Insufficiently evaluated not reviewed unknown Array rs2708380 4824 10756 0.448494 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - TAS2R46 Ile153Val I153V not reviewed Insufficiently evaluated not reviewed unknown Array rs72477410 2839 10576 0.268438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R46 Ile147Val I147V not reviewed Insufficiently evaluated not reviewed unknown Array rs72477411 1089 10426 0.10445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R46 His120Arg H120R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10192 0.000883045 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - TAS2R5 Ser26Ile S26I not reviewed Insufficiently evaluated not reviewed unknown Array rs2227264 4426 10758 0.411415 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TAS2R5 Tyr167Cys Y167C not reviewed Insufficiently evaluated not reviewed unknown Array rs34529840 188 10758 0.0174754 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TAS2R50 Cys203Tyr C203Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1376251 2711 10758 0.251999 23 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TAS2R50 Cys200Ser C200S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R50 Tyr76Cys Y76C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAS2R7 Met304Ile M304I not reviewed Insufficiently evaluated not reviewed unknown Array rs619381 946 10758 0.0879346 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.964 - - -1 - 1 N - - TAS2R7 Thr263Met T263M not reviewed Insufficiently evaluated not reviewed unknown Array rs11838055 141 10758 0.0131065 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.471 - - 2 - 2 - 4 - - TAS2R7 Thr263Ser T263S not reviewed Insufficiently evaluated not reviewed unknown Array rs3759251 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 4 - - TAS2R7 Ala180Ser A180S not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TAS2R7 Ile85Thr I85T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 3 - 1 N - - TAS2R8 Met308Val M308V not reviewed Insufficiently evaluated not reviewed unknown Array rs2537817 105 128 0.820312 49 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R8 Leu48Phe L48F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 1 - - TAS2R9 Ala233Thr A233T not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - TAS2R9 Val187Ala V187A not reviewed Insufficiently evaluated not reviewed unknown Array rs3741845 5299 10758 0.492564 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TAS2R9 Ile126Phe I126F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TAT Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array 1879 10758 0.174661 11 0 12 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 3 - 2 - 10 - - TATDN2 His217Arg H217R not reviewed Insufficiently evaluated not reviewed unknown Array rs2241314 1667 10758 0.154954 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TATDN2 Val256Ile V256I not reviewed Insufficiently evaluated not reviewed unknown Array rs394558 4239 10758 0.394032 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TATDN2 Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array rs2075352 1609 10758 0.149563 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TATDN2 Met416Thr M416T not reviewed Insufficiently evaluated not reviewed unknown Array rs61730105 391 10758 0.036345 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TATDN3 Glu44Lys E44K not reviewed Insufficiently evaluated not reviewed unknown Array rs55709122 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - 0 - 1 N - - TBC1D1 Ser14Pro S14P not reviewed Insufficiently evaluated not reviewed unknown Array rs2279027 7283 10758 0.676985 51 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TBC1D1 Arg125Trp R125W not reviewed Insufficiently evaluated not reviewed unknown Array rs35859249 784 10758 0.072876 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.65 - - 7 Y 0 N - - TBC1D1 Val228Gly V228G not reviewed Insufficiently evaluated not reviewed unknown Array rs10501 5007 10568 0.473789 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TBC1D1 Arg327Lys R327K not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 1 N - - TBC1D1 Trp969Arg W969R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TBC1D1 Arg1136Gln R1136Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13110318 843 10758 0.0783603 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.282 - - 0 - 0 N - - TBC1D10A Arg411His R411H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 1 - 2 N - - TBC1D10A Pro355Leu P355L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - TBC1D10B Glu211Asp E211D not reviewed Insufficiently evaluated not reviewed unknown Array rs71389465 138 3234 0.0426716 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.807 - - -2 - 1 N - - TBC1D12 Glu254Gln E254Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 8582 0.000932183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - TBC1D13 Val190Ala V190A not reviewed Insufficiently evaluated not reviewed unknown Array rs1572912 4986 10758 0.463469 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TBC1D14 Leu41Val L41V not reviewed Insufficiently evaluated not reviewed unknown Array rs34860182 891 10758 0.0828221 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TBC1D17 Asp84Gly D84G not reviewed Insufficiently evaluated not reviewed unknown Array rs8109661 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TBC1D17 Leu99Pro L99P not reviewed Insufficiently evaluated not reviewed unknown Array rs3745486 5381 10758 0.500186 39 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TBC1D17 Arg158Cys R158C not reviewed Insufficiently evaluated not reviewed unknown Array rs57256087 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 2 N - - TBC1D2 Glu910Lys E910K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - TBC1D2 Glu905Lys E905K not reviewed Insufficiently evaluated not reviewed unknown Array rs34769888 67 10756 0.00622908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - TBC1D2 Lys682Gln K682Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - -2 - 1 N - - TBC1D2 Ala387Val A387V not reviewed Insufficiently evaluated not reviewed unknown Array rs61753563 181 10756 0.0168278 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBC1D2 Gly261Val G261V not reviewed Insufficiently evaluated not reviewed unknown Array rs1573025 1673 10758 0.155512 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TBC1D2 Leu253Ser L253S not reviewed Insufficiently evaluated not reviewed unknown Array rs879369 4976 10758 0.462539 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TBC1D2 Pro241Thr P241T not reviewed Insufficiently evaluated not reviewed unknown Array rs879368 2508 10758 0.233129 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - TBC1D20 Asn79Ser N79S not reviewed Insufficiently evaluated not reviewed unknown Array rs36088178 459 10758 0.0426659 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D21 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16958445 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 3 - 5 - - TBC1D21 Cys300Stop C300X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TBC1D22A Glu92Lys E92K not reviewed Insufficiently evaluated not reviewed unknown Array rs17849460 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D22A Pro134Ala P134A not reviewed Insufficiently evaluated not reviewed unknown Array 58 10526 0.00551016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TBC1D23 Pro8Ala P8A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - TBC1D24 Cys8Arg C8R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10404 9.6116e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - TBC1D24 Phe295Leu F295L not reviewed Insufficiently evaluated not reviewed unknown Array 75 10532 0.00712115 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - TBC1D24 Arg518Trp R518W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10510 9.5147e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D24 Asp551Tyr D551Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D25 Asn277Ser N277S not reviewed Insufficiently evaluated not reviewed unknown Array rs2293948 4805 8761 0.548453 41 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TBC1D25 Ala455Thr A455T not reviewed Insufficiently evaluated not reviewed unknown Array rs235836 4803 8761 0.548225 41 0 72 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TBC1D26 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10092 0.00326992 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 1 N - - TBC1D26 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array rs73978522 55 9830 0.00559512 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.308 - - 1 - 1 N - - TBC1D26 Ala206Val A206V not reviewed Insufficiently evaluated not reviewed unknown Array rs11650318 3285 10702 0.306952 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TBC1D26 Gly234Ser G234S not reviewed Insufficiently evaluated not reviewed unknown Array rs17855672 3120 10138 0.307753 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 0 N - - TBC1D28 Glu56Ala E56A not reviewed Insufficiently evaluated not reviewed unknown Array 4535 10730 0.422647 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - TBC1D29 Ser104Asn S104N not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TBC1D2B Val284Leu V284L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D2B Ala8Gly A8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBC1D3 Ser370Phe S370F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TBC1D3 Pro529Leu P529L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D3 Leu122Met L122M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - TBC1D3B Arg323Cys R323C not reviewed Insufficiently evaluated not reviewed unknown Array 8 276 0.0289855 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 8 Y 0 N - - TBC1D3E Ser370Phe S370F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TBC1D3E Pro529Leu P529L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D3E Leu122Met L122M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TBC1D3F Ser370Phe S370F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TBC1D3F Pro529Leu P529L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D3F Leu122Met L122M not reviewed Insufficiently evaluated not reviewed unknown Array 82 4574 0.0179274 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TBC1D4 Val1275Ala V1275A not reviewed Insufficiently evaluated not reviewed unknown Array rs557337 1824 9812 0.185895 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TBC1D4 Val1119Ala V1119A not reviewed Insufficiently evaluated not reviewed unknown Array rs58232698 54 9504 0.00568182 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - TBC1D4 Val819Ile V819I not reviewed Insufficiently evaluated not reviewed unknown Array rs1062087 7379 9624 0.766729 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TBC1D4 Arg684Gly R684G not reviewed Insufficiently evaluated not reviewed unknown Array rs61736969 77 9684 0.00795126 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - TBC1D4 Pro619Leu P619L not reviewed Insufficiently evaluated not reviewed unknown Array rs56223054 42 10124 0.00414856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - TBC1D4 Ala101Val A101V not reviewed Insufficiently evaluated not reviewed unknown Array 710 9928 0.0715149 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TBC1D5 Ile696Val I696V not reviewed Insufficiently evaluated not reviewed unknown Array rs1138454 3699 10758 0.343837 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TBC1D5 Ile718Val I718V not reviewed Insufficiently evaluated not reviewed unknown Array rs1138454 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBC1D8 Arg1079Gly R1079G not reviewed Insufficiently evaluated not reviewed unknown Array rs746924 6040 9742 0.619996 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TBC1D8 Gly954Arg G954R not reviewed Insufficiently evaluated not reviewed unknown Array rs1062062 948 9802 0.096715 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 1 - - TBC1D8 Thr317Ala T317A not reviewed Insufficiently evaluated not reviewed unknown Array rs2289953 5942 10166 0.584497 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TBC1D9 Glu779Lys E779K not reviewed Insufficiently evaluated not reviewed unknown Array rs13118702 139 10188 0.0136435 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - TBC1D9B Lys1102Thr K1102T not reviewed Insufficiently evaluated not reviewed unknown Array rs30386 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBC1D9B Lys1119Thr K1119T not reviewed Insufficiently evaluated not reviewed unknown Array rs30386 4965 10756 0.461603 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TBC1D9B Val706Ile V706I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 4 - - TBCB Arg138Gly R138G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.158 - - 6 Y 0 N - - TBCC Ile335Val I335V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBCC Pro180Ser P180S not reviewed Insufficiently evaluated not reviewed unknown Array rs2234028 96 10750 0.00893023 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - TBCC Gly157Asp G157D not reviewed Insufficiently evaluated not reviewed unknown Array rs7742995 137 10722 0.0127775 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TBCC Val65Ala V65A not reviewed Insufficiently evaluated not reviewed unknown Array rs2234026 10652 10758 0.990147 51 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TBCCD1 Lys149Arg K149R not reviewed Insufficiently evaluated not reviewed unknown Array rs7619912 607 10758 0.0564231 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TBCD Met617Thr M617T not reviewed Insufficiently evaluated not reviewed unknown Array rs2292971 5382 10430 0.516011 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TBCD Pro836Leu P836L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.561 - - 7 Y 1 N - - TBCD Glu1097Gly E1097G not reviewed Insufficiently evaluated not reviewed unknown Array rs3785522 9056 10436 0.867765 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TBCE Val205Ala V205A not reviewed Insufficiently evaluated not reviewed unknown Array rs16832611 305 10754 0.0283615 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBCE Arg223Trp R223W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - TBCE Ser333Thr S333T not reviewed Insufficiently evaluated not reviewed unknown Array rs35579976 101 10758 0.00938836 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.27 - - -2 - 1 N - - TBCE Glu409Gly E409G not reviewed Insufficiently evaluated not reviewed unknown Array rs16832619 302 10758 0.0280721 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - TBCKL Met408Ile M408I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBCKL Thr362Met T362M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBCKL Gln203Glu Q203E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBCKL Pro51Ala P51A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBL1X Arg30His R30H not reviewed Insufficiently evaluated not reviewed unknown Array 8 8698 0.000919751 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - 1 - 0 N - - TBL1XR1 Lys440Asn K440N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - TBL1XR1 Arg431Gln R431Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - TBL2 Glu8Gln E8Q not reviewed Insufficiently evaluated not reviewed unknown Array 335 10734 0.0312092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 3 - 10 - - TBL3 Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBL3 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TBL3 Gln293Arg Q293R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230086 1176 10730 0.109599 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TBL3 Glu294Gln E294Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8052713 934 10726 0.0870781 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TBL3 Ser457Pro S457P not reviewed Insufficiently evaluated not reviewed unknown Array rs17605 876 10758 0.0814278 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TBL3 Arg690Gln R690Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBPL2 Arg31Pro R31P not reviewed Insufficiently evaluated not reviewed unknown Array rs8019270 6898 10672 0.646364 51 0 69 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TBRG1 Pro406Ser P406S not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TBRG4 Val227Ile V227I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBRG4 Pro57Leu P57L not reviewed Insufficiently evaluated not reviewed unknown Array rs2304693 1309 10758 0.121677 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TBRG4 Ala22Ser A22S not reviewed Insufficiently evaluated not reviewed unknown Array rs2304694 1306 10758 0.121398 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - TBX1 Thr350Met T350M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 2 - 3 - 1 - - TBX10 Lys101Thr K101T not reviewed Insufficiently evaluated not reviewed unknown Array rs3758938 2738 10758 0.254508 23 0 25 0 0 - - - - - - - - - - - - - - - - 0.964 - - 3 - 1 N - - TBX15 His50Asn H50N not reviewed Insufficiently evaluated not reviewed unknown Array rs10494217 1419 10758 0.131902 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TBX18 Gly48Arg G48R not reviewed Insufficiently evaluated not reviewed unknown Array rs172562 3290 9792 0.335989 17 0 23 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TBX19 Val254Ala V254A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 2 - 1 N - - TBX21 His33Gln H33Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 79 6124 0.0129001 1 0 0 1 0 - - - - - - - - - - - - - - - Y 0.251 - - -1 - 2 N - - TBX22 Glu187Lys E187K not reviewed Insufficiently evaluated not reviewed unknown Array rs34244923 402 8761 0.0458852 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 4 - 3 - - TBX22 Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - TBX3 Ser376Thr S376T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TBX3 Ser396Thr S396T not reviewed Insufficiently evaluated not reviewed unknown Array 332 10696 0.0310396 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.977 Y - -2 - 3 N - - TBX4 Gly6Ala G6A not reviewed Insufficiently evaluated not reviewed unknown Array rs3744448 1293 10658 0.121317 15 0 17 0 0 - - - - - - - - - - - - Y - - - 0.497 Y - 1 - 2 - 10 - - TBX4 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TBX4 Pro282Ser P282S not reviewed Insufficiently evaluated not reviewed unknown Array rs73334576 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TBX4 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs3744438 2431 10758 0.225971 28 0 32 0 0 - - - - - - - - - - - - Y - - - 0.267 Y - 2 - 2 - 1 - - TBX4 His470Arg H470R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 1 - 3 N - - TBX5 Pro333Leu P333L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TBX6 Gly162Ser G162S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 2 - 3 - 6 - - TBXA2R Arg342Gln R342Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5758 49 126 0.388889 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TBXA2R Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array 142 10442 0.0135989 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBXAS1 Glu161Asp E161D not reviewed Insufficiently evaluated not reviewed unknown Array rs5768 10688 10758 0.993493 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TBXAS1 Glu388Lys E388K not reviewed Insufficiently evaluated not reviewed unknown Array rs3735354 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - TBXAS1 Thr401Met T401M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBXAS1 Gln417Glu Q417E not reviewed Insufficiently evaluated not reviewed unknown Array rs4528 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBXAS1 Ala430Thr A430T not reviewed Insufficiently evaluated not reviewed unknown Array rs4526 232 10758 0.0215653 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - TBXAS1 Glu450Lys E450K not reviewed Insufficiently evaluated not reviewed unknown Array rs8192868 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 9 - - TBXAS1 Lys500Thr K500T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBXAS1 Pro512Leu P512L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBXAS1 Arg458Cys R458C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TC2N Lys151Thr K151T not reviewed Insufficiently evaluated not reviewed unknown Array rs2402073 10514 10758 0.977319 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TCEAL2 Asp19Gly D19G not reviewed Insufficiently evaluated not reviewed unknown Array rs34924423 160 8761 0.0182628 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.497 - - 4 Y 2 - 2 - - TCEAL2 Gly68Ala G68A not reviewed Insufficiently evaluated not reviewed unknown Array rs5944856 1558 8760 0.177854 14 0 20 0 0 - - - - - - - - - - - - - - - - 0.734 - - 1 - 0 N - - TCEAL3 Gln87Glu Q87E not reviewed Insufficiently evaluated not reviewed unknown Array rs12009847 575 8761 0.0656318 8 0 14 0 0 - - - - - - - - - - - - - - - - 0.73 - - -2 - 0 N - - TCEAL5 Arg101Pro R101P not reviewed Insufficiently evaluated not reviewed unknown Array rs6621640 1136 8760 0.12968 14 0 22 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - TCEANC Ser193Leu S193L not reviewed Insufficiently evaluated not reviewed unknown Array rs2361159 3879 7919 0.489835 37 0 60 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TCEANC Trp381Leu W381L not reviewed Insufficiently evaluated not reviewed unknown Array rs5935650 4239 7965 0.532203 39 0 66 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TCEB2 Thr145Met T145M not reviewed Insufficiently evaluated not reviewed unknown Array rs4036 2109 10758 0.19604 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TCEB2 Ser129Asn S129N not reviewed Insufficiently evaluated not reviewed unknown Array rs8017 4828 10758 0.448782 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TCEB2 Val121Phe V121F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCEB3 Pro63Thr P63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TCEB3 Thr145Met T145M not reviewed Insufficiently evaluated not reviewed unknown Array 719 10758 0.066834 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - TCEB3 Leu406Ser L406S not reviewed Insufficiently evaluated not reviewed unknown Array 631 10758 0.058654 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TCEB3B Pro598Ser P598S not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - TCEB3B Cys533Phe C533F not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TCEB3B Gly505Arg G505R not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - TCEB3B Ala446Thr A446T not reviewed Insufficiently evaluated not reviewed unknown Array rs3744863 4828 10752 0.449033 37 0 45 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 0 N - - TCEB3B Ala403Ser A403S not reviewed Insufficiently evaluated not reviewed unknown Array rs892586 5879 10758 0.546477 43 0 53 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TCEB3B Cys254Phe C254F not reviewed Insufficiently evaluated not reviewed unknown Array rs2010834 4823 10758 0.448318 39 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TCEB3B Arg179Pro R179P not reviewed Insufficiently evaluated not reviewed unknown Array rs2571028 5458 10718 0.509237 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TCEB3B Thr6Ser T6S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738602 742 10754 0.0689976 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.065 - - -2 - 0 N - - TCEB3C Gly369Trp G369W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TCEB3C Ser301Cys S301C not reviewed Insufficiently evaluated not reviewed unknown Array rs2510019 2 36 0.0555556 3 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 0 N - - TCEB3CL Ala470Pro A470P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - TCEB3CL Pro375Leu P375L not reviewed Insufficiently evaluated not reviewed unknown Array rs71238563 20 64 0.3125 9 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TCEB3CL Ala362Val A362V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCEB3CL Val253Gly V253G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TCEB3CL Gly369Trp G369W not reviewed Insufficiently evaluated not reviewed unknown Array 222 8538 0.0260014 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - TCEB3CL Ser301Cys S301C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 3 - 2 N - - TCERG1 Arg859Leu R859L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCERG1 Arg880Leu R880L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCERG1L Ile155Val I155V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TCF15 Val114Leu V114L not reviewed Insufficiently evaluated not reviewed unknown Array rs2754502 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF19 Pro109Ser P109S not reviewed Insufficiently evaluated not reviewed unknown Array rs7750641 542 6352 0.0853275 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - TCF19 Met211Val M211V not reviewed Insufficiently evaluated not reviewed unknown Array rs2073721 5305 6650 0.797744 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TCF19 Ala279Val A279V not reviewed Insufficiently evaluated not reviewed unknown Array 73 6706 0.0108858 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCF20 Ile1649Val I1649V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - TCF20 Ser1325Asn S1325N not reviewed Insufficiently evaluated not reviewed unknown Array rs17002888 235 10758 0.0218442 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF20 Met1165Ile M1165I not reviewed Insufficiently evaluated not reviewed unknown Array rs17002890 355 10758 0.0329987 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.925 - - -1 - 2 N - - TCF20 Ser722Gly S722G not reviewed Insufficiently evaluated not reviewed unknown Array rs5758651 1956 10758 0.181818 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TCF21 Gly22Val G22V pathogenic Insufficiently evaluated pathogenic dominant Array rs56412384 658 10758 0.0611638 6 0 7 1 1 2 Y - - - - 1 Y 1 Y 3 - - - - - 0.002 - - 8 Y 0 N - - Found in 12-year-old girl with severe dilated cardiomyopathy. Ungenotyped--mother with less severe dilated cardiomyopathy and grandmother with senosorineural hearing loss. The high frequency in the 1000 genomes indicates that this variant is not dominant, but it may be a modifier that is pathogenic in the presence of other variants. TCF21 Val32Leu V32L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF23 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11126879 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.119 - - 0 - 1 - 2 - - TCF25 Lys53Gln K53Q not reviewed Insufficiently evaluated not reviewed unknown Array 454 10612 0.0427818 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - TCF25 Gln350Arg Q350R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.94 - - 0 - 2 N - - TCF25 Ala408Gly A408G not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - TCF25 Ala514Thr A514T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10738 0.000279381 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TCF3 Ala492Val A492V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074888 133 10756 0.0123652 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - TCF3 Gly431Ser G431S not reviewed Insufficiently evaluated not reviewed unknown Array rs1052696 605 10604 0.0570539 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 6 - - TCF3 Ala424Val A424V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10672 0.00149925 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCF3 His422Tyr H422Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - TCF4 Ser251Pro S251P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.598 - - 3 - 1 N - - TCF7 Pro100Ser P100S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 3 - 0 N - - TCF7 Pro134Thr P134T not reviewed Insufficiently evaluated not reviewed unknown Array rs5742913 5 126 0.0396825 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.871 - - 4 Y 2 N - - TCF7 Pro19Thr P19T not reviewed Insufficiently evaluated not reviewed unknown Array rs5742913 836 10756 0.0777241 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TCF7 Thr245Ile T245I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCF7 Gly256Arg G256R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - TCF7L1 Gly533Arg G533R not reviewed Insufficiently evaluated not reviewed unknown Array rs11547160 503 10754 0.0467733 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCF7L2 His435Gln H435Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - TCF7L2 His448Gln H448Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - TCF7L2 His482Gln H482Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - TCF7L2 Pro460Thr P460T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 4 Y 2 N - - TCF7L2 Pro477Thr P477T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y - 4 Y 2 N - - TCF7L2 Pro483Thr P483T not reviewed Insufficiently evaluated not reviewed unknown Array 251 10758 0.0233315 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 4 Y 2 N - - TCF7L2 Ala484Thr A484T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - TCF7L2 Ala501Thr A501T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - TCF7L2 Ala507Thr A507T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - TCF7L2 Ser486Pro S486P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 3 - 2 N - - TCF7L2 Ser503Pro S503P not reviewed Insufficiently evaluated not reviewed unknown Array rs58719567 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 3 - 2 N - - TCF7L2 Ser509Pro S509P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 Y - 3 - 3 N - - TCFL5 Glu380Asp E380D not reviewed Insufficiently evaluated not reviewed unknown Array rs34304654 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 3 - 3 - - TCFL5 Asn272Asp N272D not reviewed Insufficiently evaluated not reviewed unknown Array rs17854409 1328 10758 0.123443 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - TCHH Lys1902Gln K1902Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1131471 4422 9936 0.445048 40 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TCHH Arg1774Leu R1774L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCHH Glu1697Gln E1697Q not reviewed Insufficiently evaluated not reviewed unknown Array 115 9742 0.0118046 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TCHH Arg1529Trp R1529W not reviewed Insufficiently evaluated not reviewed unknown Array 8 9676 0.000826787 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TCHH His1479Arg H1479R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCHH Gln1476Glu Q1476E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TCHH Arg1473Thr R1473T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCHH Leu1470Arg L1470R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCHH Thr1334Arg T1334R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9746 0.000307818 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCHH Leu1258Val L1258V not reviewed Insufficiently evaluated not reviewed unknown Array rs2496253 4440 10138 0.437956 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TCHH Lys1209Glu K1209E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10340 0.000290135 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCHH Pro1158Arg P1158R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10038 9.9621e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TCHH Leu790Met L790M not reviewed Insufficiently evaluated not reviewed unknown Array rs11803731 1344 10140 0.132544 6 0 7 0 0 - - - - - - - - - - - - - - Y - - - - -3 - 1 N - - TCHH Arg552Ser R552S not reviewed Insufficiently evaluated not reviewed unknown Array rs6680692 173 10118 0.0170982 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - TCHH Trp488Arg W488R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10434 0.000191681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TCHH Glu430Gln E430Q not reviewed Insufficiently evaluated not reviewed unknown Array 287 9998 0.0287057 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TCHH Glu348Lys E348K not reviewed Insufficiently evaluated not reviewed unknown Array 3 9130 0.000328587 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCHH Val237Leu V237L not reviewed Insufficiently evaluated not reviewed unknown Array rs3134814 522 10264 0.0508574 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - TCHH Leu63Arg L63R not reviewed Insufficiently evaluated not reviewed unknown Array rs2515663 9599 9694 0.9902 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TCHHL1 Cys789Arg C789R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - TCHHL1 Ile672Val I672V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.337 - - -4 - 2 - 1 - - TCHHL1 Pro649Ala P649A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - TCHHL1 Gln233Lys Q233K not reviewed Insufficiently evaluated not reviewed unknown Array rs74129507 109 10756 0.0101339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -2 - 0 N - - TCHHL1 Ala193Gly A193G not reviewed Insufficiently evaluated not reviewed unknown Array rs16833835 337 10758 0.0313255 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 1 N - - TCHHL1 Asn167Tyr N167Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 1 N - - TCHP Lys127Arg K127R not reviewed Insufficiently evaluated not reviewed unknown Array rs10774978 3281 10726 0.305892 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TCHP Glu417Lys E417K not reviewed Insufficiently evaluated not reviewed unknown Array rs16940680 1317 10758 0.122421 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TCHP Arg420Cys R420C not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.908 - - 8 Y 2 N - - TCIRG1 Arg56Trp R56W benign Low clinical importance, Uncertain benign unknown Array rs36027301 475 10752 0.0441778 2 0 2 2 2 ! Y - - 5 Y - - - - - - Y - - - 0.995 Y - 7 Y 4 - 3 0 0 Probably benign. One publication implicates the variant in causing osteopetrosis, but this is contradicted by the relatively high allele frequency for the variant in Caucasians (5%, 1 in 400 homozygous) while that disease is extremely rare (1 in 250,000). TCIRG1 Ala610Thr A610T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TCIRG1 Ala826Thr A826T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TCL1A Val56Ile V56I not reviewed Insufficiently evaluated not reviewed unknown Array rs17093294 169 10758 0.0157092 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCL1A Val11Ile V11I not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -4 - 0 N - - TCL1A Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 1 - - TCL1B Gly93Arg G93R not reviewed Insufficiently evaluated not reviewed unknown Array rs1064017 4233 10758 0.393475 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 1 N - - TCL6 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 8 - - TCL6 Gly129Glu G129E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCL6 Thr34Ala T34A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCL6 Thr48Ala T48A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCL6 Thr92Ala T92A not reviewed Insufficiently evaluated not reviewed unknown Array rs2249778 47 128 0.367188 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TCL6 Arg105Stop R105X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCL6 Arg119Stop R119X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - TCL6 Arg163Stop R163X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCN1 Asp301Tyr D301Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34324219 1080 10758 0.10039 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - TCN1 Ser218Ile S218I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.584 - - 5 Y 1 N - - TCN1 Asp120Asn D120N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TCN2 Ile23Val I23V not reviewed Insufficiently evaluated not reviewed unknown Array rs9606756 1383 10758 0.128555 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - TCN2 Lys77Met K77M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - TCN2 Arg215Trp R215W not reviewed Insufficiently evaluated not reviewed unknown Array rs35838082 934 10758 0.0868191 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.891 - - 7 Y 1 N - - TCN2 Arg259Pro R259P not reviewed Insufficiently evaluated not reviewed unknown Array rs1801198 6846 10758 0.636364 48 0 73 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TCN2 Ser348Phe S348F not reviewed Insufficiently evaluated not reviewed unknown Array rs9621049 1366 10758 0.126975 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TCN2 Leu376Ser L376S not reviewed Insufficiently evaluated not reviewed unknown Array rs1131603 380 10758 0.0353226 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 3 - - TCN2 Arg399Gln R399Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4820889 593 10758 0.0551218 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 1 N - - TCOF1 Ala41Val A41V benign Insufficiently evaluated benign dominant Array 22 10758 0.00204499 1 0 0 2 2 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 6 - - The variant was initially reported causative for Treacher-Collins syndrome, but later research found that it did not segregate with disease. TCOF1 Ala588Pro A588P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TCOF1 Ala665Pro A665P not reviewed Insufficiently evaluated not reviewed unknown Array rs2071240 622 10756 0.0578282 7 0 7 0 0 - Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TCOF1 Pro672Ser P672S benign Insufficiently evaluated benign dominant Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - The variant was not found to segregate with disease. TCOF1 Pro749Ser P749S not reviewed Insufficiently evaluated not reviewed unknown Array rs73270846 114 10756 0.0105987 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TCOF1 Glu803Lys E803K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TCOF1 Glu880Lys E880K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TCOF1 Val810Ala V810A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TCOF1 Val887Ala V887A not reviewed Insufficiently evaluated not reviewed unknown Array rs7713638 2069 10758 0.192322 17 0 17 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TCOF1 Gln955Arg Q955R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TCOF1 Pro1099Arg P1099R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 1 - - TCOF1 Pro1100Arg P1100R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TCOF1 Pro1138Arg P1138R not reviewed Insufficiently evaluated not reviewed unknown Array rs1136103 14 128 0.109375 8 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - TCOF1 Pro1139Arg P1139R not reviewed Insufficiently evaluated not reviewed unknown Array rs1136103 1834 10758 0.170478 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - TCOF1 Pro1176Arg P1176R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TCOF1 Ala1313Val A1313V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - TCOF1 Ala1314Val A1314V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TCOF1 Ala1352Val A1352V not reviewed Insufficiently evaluated not reviewed unknown Array rs15251 30 128 0.234375 17 0 20 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TCOF1 Ala1353Val A1353V not reviewed Insufficiently evaluated not reviewed unknown Array 2300 10758 0.213794 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TCOF1 Ala1390Val A1390V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TCOF1 Gly1354Ala G1354A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - TCOF1 Gly1355Ala G1355A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCOF1 Gly1393Ala G1393A not reviewed Insufficiently evaluated not reviewed unknown Array rs45491898 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCOF1 Gly1394Ala G1394A not reviewed Insufficiently evaluated not reviewed unknown Array 177 10752 0.0164621 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCOF1 Gly1431Ala G1431A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCP10 His294Pro H294P not reviewed Insufficiently evaluated not reviewed unknown Array 44 9668 0.0045511 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TCP10 Ala256Ser A256S not reviewed Insufficiently evaluated not reviewed unknown Array rs2261835 604 9720 0.0621399 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TCP10 Arg246His R246H not reviewed Insufficiently evaluated not reviewed unknown Array 64 9810 0.00652396 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCP10 Thr217Ala T217A not reviewed Insufficiently evaluated not reviewed unknown Array 2549 10000 0.2549 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TCP10 Gly186Glu G186E not reviewed Insufficiently evaluated not reviewed unknown Array rs2345794 32 38 0.842105 10 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TCP10 Arg185Pro R185P not reviewed Insufficiently evaluated not reviewed unknown Array rs9459903 261 7814 0.0334016 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TCP10 Gly181Ser G181S not reviewed Insufficiently evaluated not reviewed unknown Array 90 7712 0.0116701 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCP10 Ser150Leu S150L not reviewed Insufficiently evaluated not reviewed unknown Array 234 5554 0.0421318 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCP10 Asp110Glu D110E not reviewed Insufficiently evaluated not reviewed unknown Array rs17855837 4807 10634 0.452041 16 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TCP10 His104Pro H104P not reviewed Insufficiently evaluated not reviewed unknown Array rs3010594 2969 9642 0.307924 14 0 25 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TCP10 Gln25Stop Q25X not reviewed Insufficiently evaluated not reviewed unknown Array 25 4568 0.00547285 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCP10 Gly18Glu G18E not reviewed Insufficiently evaluated not reviewed unknown Array rs17855834 2229 10626 0.209768 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TCP10 Ser15Gly S15G not reviewed Insufficiently evaluated not reviewed unknown Array rs17855833 2247 10640 0.211184 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TCP10L His145Arg H145R not reviewed Insufficiently evaluated not reviewed unknown Array rs9622 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCP10L2 Glu7Ala E7A not reviewed Insufficiently evaluated not reviewed unknown Array 105 3234 0.0324675 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCP10L2 Arg194His R194H not reviewed Insufficiently evaluated not reviewed unknown Array 737 3176 0.232053 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TCP10L2 Gln195Stop Q195X not reviewed Insufficiently evaluated not reviewed unknown Array 674 3170 0.212618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - TCP10L2 Leu228Pro L228P not reviewed Insufficiently evaluated not reviewed unknown Array 1897 3224 0.5884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TCP10L2 Arg289Trp R289W not reviewed Insufficiently evaluated not reviewed unknown Array 705 3034 0.232367 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TCP11 Met228Val M228V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCP11 Met303Val M303V not reviewed Insufficiently evaluated not reviewed unknown Array rs62404564 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCP11 Gly191Ala G191A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCP11 Gly266Ala G266A not reviewed Insufficiently evaluated not reviewed unknown Array rs2234045 2157 10758 0.200502 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TCP11 Asp45Ala D45A not reviewed Insufficiently evaluated not reviewed unknown Array rs35693439 1827 9702 0.188312 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TCP11L1 Lys178Arg K178R not reviewed Insufficiently evaluated not reviewed unknown Array rs2273549 1619 10758 0.150493 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - TCP11L1 Arg508Gln R508Q not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.835 - - 0 - 2 - 3 - - TCP11L2 Ala41Thr A41T not reviewed Insufficiently evaluated not reviewed unknown Array rs4964460 8910 10758 0.828221 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TCP11L2 Ala82Ser A82S not reviewed Insufficiently evaluated not reviewed unknown Array rs11837375 147 10758 0.0136642 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.221 - - -1 - 1 N - - TCP11L2 Val208Met V208M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TCTE1 Phe261Ser F261S not reviewed Insufficiently evaluated not reviewed unknown Array rs2297336 1309 10758 0.121677 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - TCTE1 Glu157Ala E157A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - TCTE1 Arg59His R59H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742784 347 10758 0.0322551 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.041 - - 1 - 0 N - - TCTE1 Pro35Leu P35L not reviewed Insufficiently evaluated not reviewed unknown Array rs324146 7753 10758 0.720673 48 0 71 0 0 - - - - - - - - - - - - - - - - 0.408 - - 7 Y 0 N - - TCTE3 Val121Ala V121A not reviewed Insufficiently evaluated not reviewed unknown Array rs13194101 230 10756 0.0213834 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TCTE3 Arg88Ile R88I not reviewed Insufficiently evaluated not reviewed unknown Array rs2027063 1386 10754 0.128882 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - TCTE3 Pro61Thr P61T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TCTEX1D1 Glu49Asp E49D not reviewed Insufficiently evaluated not reviewed unknown Array rs1060575 1291 10758 0.120004 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TCTEX1D1 Leu143Ile L143I not reviewed Insufficiently evaluated not reviewed unknown Array rs2133173 2967 10758 0.275795 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TCTEX1D4 Asp143Tyr D143Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17886308 16 7596 0.00210637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TD1 Ser70Pro S70P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TDG Ile134Met I134M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - TDG Gly199Ser G199S not reviewed Insufficiently evaluated not reviewed unknown Array rs4135113 776 10758 0.0721324 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TDG Gly347Arg G347R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - TDG Val367Met V367M not reviewed Insufficiently evaluated not reviewed unknown Array rs2888805 777 10758 0.0722253 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TDGF1 Val22Ala V22A not reviewed Insufficiently evaluated not reviewed unknown Array rs11130097 5553 10758 0.516174 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TDGF1 Tyr43Asp Y43D not reviewed Insufficiently evaluated not reviewed unknown Array rs2293025 270 10758 0.0250976 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TDP1 Ala134Thr A134T not reviewed Insufficiently evaluated not reviewed unknown Array rs28365054 1186 10758 0.110244 9 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TDP1 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34452707 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.976 - Y 0 - 3 N - - TDP1 Cys413Arg C413R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.91 - Y 8 Y 3 N - - TDP1 Thr569Ala T569A not reviewed Insufficiently evaluated not reviewed unknown Array rs35973343 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TDRD1 Ile245Val I245V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TDRD10 Arg181Gln R181Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12750774 2352 10758 0.218628 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.338 - - 0 - 0 N - - TDRD10 Val215Ile V215I not reviewed Insufficiently evaluated not reviewed unknown Array rs3811448 1889 10758 0.17559 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TDRD5 Arg126Ser R126S not reviewed Insufficiently evaluated not reviewed unknown Array rs61310274 3127 10758 0.290667 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - TDRD5 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array 633 10758 0.0588399 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 1 N - - TDRD5 Lys358Glu K358E not reviewed Insufficiently evaluated not reviewed unknown Array rs6704505 1018 10758 0.0946273 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TDRD5 Ala368Val A368V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TDRD5 Glu722Lys E722K not reviewed Insufficiently evaluated not reviewed unknown Array rs35448215 1814 10758 0.168619 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - TDRD6 Pro5Ser P5S not reviewed Insufficiently evaluated not reviewed unknown Array rs73471190 310 8806 0.0352033 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TDRD6 Thr398Ala T398A not reviewed Insufficiently evaluated not reviewed unknown Array rs3799277 9248 10758 0.859639 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TDRD6 Arg519Ile R519I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.83 - - 7 Y 1 N - - TDRD6 Ile795Met I795M not reviewed Insufficiently evaluated not reviewed unknown Array rs9463234 409 10758 0.0380182 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.065 - - -1 - 0 N - - TDRD6 Gln1014Glu Q1014E not reviewed Insufficiently evaluated not reviewed unknown Array rs9381472 3736 10758 0.347276 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.952 - - -2 - 1 N - - TDRD6 Thr1192Lys T1192K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TDRD6 Cys1546Arg C1546R not reviewed Insufficiently evaluated not reviewed unknown Array rs61121716 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - TDRD6 Asn1875Asp N1875D not reviewed Insufficiently evaluated not reviewed unknown Array rs41273662 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - TDRD7 Ala23Pro A23P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TDRD7 Val150Ala V150A not reviewed Insufficiently evaluated not reviewed unknown Array rs2045732 5598 10758 0.520357 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TDRD9 Val1172Ile V1172I not reviewed Insufficiently evaluated not reviewed unknown Array 68 3234 0.0210266 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - -4 - 1 N - - TEAD2 Gly222Ala G222A not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TECPR1 Pro944Leu P944L not reviewed Insufficiently evaluated not reviewed unknown Array rs11762014 1673 10082 0.165939 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.157 - - 7 Y 0 N - - TECPR1 Lys162Met K162M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - TECPR1 Lys162Stop K162X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TECPR1 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TECPR2 Val168Gly V168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - TECPR2 Val320Ile V320I not reviewed Insufficiently evaluated not reviewed unknown Array rs1309353 10373 10744 0.965469 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TECPR2 Ala386Thr A386T not reviewed Insufficiently evaluated not reviewed unknown Array rs11845676 512 10758 0.0475925 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TECPR2 Ile683Val I683V not reviewed Insufficiently evaluated not reviewed unknown Array rs10149146 2938 10758 0.273099 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TECPR2 Leu684Val L684V not reviewed Insufficiently evaluated not reviewed unknown Array rs45467297 336 10758 0.0312326 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TECPR2 Gln981Lys Q981K not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - TECTA Gln19Arg Q19R not reviewed Insufficiently evaluated not reviewed unknown Array rs35507522 4 128 0.03125 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TECTA Asp197Gly D197G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.328 Y - 4 Y 2 N - - TECTA Arg371Gly R371G not reviewed Insufficiently evaluated not reviewed unknown Array rs612969 74 128 0.578125 44 0 64 0 0 2 Y - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - TECTA Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array rs35107075 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 7 Y 2 - 1 - - TECTA Val932Ala V932A not reviewed Insufficiently evaluated not reviewed unknown Array rs520805 31 128 0.242188 25 0 28 0 0 - - - - - - - - - - - - Y - - - 0.747 Y - 2 - 1 N - - TECTA Lys1197Glu K1197E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 3 N - - TECTA Thr1446Arg T1446R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 3 - 3 N - - TECTA Ser1584Thr S1584T not reviewed Insufficiently evaluated not reviewed unknown Array rs34963131 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.477 Y - -2 - 2 N - - TECTA Ser1724Asn S1724N not reviewed Insufficiently evaluated not reviewed unknown Array rs526433 126 128 0.984375 53 0 104 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - TEDDM1 Gln173Arg Q173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TEDDM1 Tyr130His Y130H not reviewed Insufficiently evaluated not reviewed unknown Array rs6674281 6419 10758 0.596672 49 0 74 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TEK Gln346Pro Q346P not reviewed Insufficiently evaluated not reviewed unknown Array rs682632 10467 10758 0.97295 56 0 108 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 1 N - - TEK Thr391Ile T391I not reviewed Insufficiently evaluated not reviewed unknown Array rs34032300 166 10758 0.0154304 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - TEK Val486Ile V486I not reviewed Insufficiently evaluated not reviewed unknown Array rs1334811 811 10758 0.0753858 9 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - TEK Ala724Thr A724T not reviewed Insufficiently evaluated not reviewed unknown Array rs4631561 266 10758 0.0247258 5 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 3 - 1 - - TEKT1 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array rs2271233 609 10758 0.056609 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TEKT1 Lys311Asn K311N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 1 - 2 N - - TEKT1 Arg254Cys R254C not reviewed Insufficiently evaluated not reviewed unknown Array rs3744395 1920 10758 0.178472 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - TEKT1 Ile146Val I146V not reviewed Insufficiently evaluated not reviewed unknown Array rs34431552 533 10758 0.0495445 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TEKT2 Arg46Cys R46C not reviewed Insufficiently evaluated not reviewed unknown Array rs12043423 232 10758 0.0215653 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TEKT2 Arg228Stop R228X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TEKT3 Gly282Ala G282A not reviewed Insufficiently evaluated not reviewed unknown Array rs230898 4588 10758 0.426473 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TEKT3 Arg3His R3H not reviewed Insufficiently evaluated not reviewed unknown Array rs7226363 2230 10758 0.207288 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TEKT4 Arg19Ser R19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.394 - - 3 - 1 N - - TEKT4 Asp58Asn D58N not reviewed Insufficiently evaluated not reviewed unknown Array 5 78 0.0641026 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.846 - - -1 - 0 N - - TEKT4 Arg59Cys R59C not reviewed Insufficiently evaluated not reviewed unknown Array 23 76 0.302632 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.538 - - 8 Y 0 N - - TEKT4 Asp60Asn D60N not reviewed Insufficiently evaluated not reviewed unknown Array 23 78 0.294872 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - TEKT4 Gln65Glu Q65E not reviewed Insufficiently evaluated not reviewed unknown Array 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.067 - - -2 - 0 N - - TEKT4 Arg66Gly R66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 6 Y 1 N - - TEKT4 Thr74Ala T74A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10544 0.00322458 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TEKT4 Arg82Cys R82C not reviewed Insufficiently evaluated not reviewed unknown Array 166 10676 0.0155489 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 8 Y 0 N - - TEKT4 Thr83Met T83M not reviewed Insufficiently evaluated not reviewed unknown Array rs4854235 3765 10688 0.352264 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.152 - - 2 - 0 N - - TEKT4 Ser100Gly S100G not reviewed Insufficiently evaluated not reviewed unknown Array rs11164112 4336 10710 0.404855 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TEKT4 Met109Val M109V not reviewed Insufficiently evaluated not reviewed unknown Array 3 14 0.214286 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEKT4 Thr181Ala T181A not reviewed Insufficiently evaluated not reviewed unknown Array 12 36 0.333333 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - TEKT4 Arg190Stop R190X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TEKT4 Ile212Leu I212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - TEKT4 Glu259Lys E259K not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - TEKT4 Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array 1 42 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TEKT4 Leu366Val L366V not reviewed Insufficiently evaluated not reviewed unknown Array 12 58 0.206897 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEKT4 Leu376Ile L376I not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - TEKT4 Glu385Gln E385Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 58 0.0689655 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.934 - - -2 - 1 N - - TEKT4 Arg391Cys R391C not reviewed Insufficiently evaluated not reviewed unknown Array rs72817671 344 10756 0.0319821 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.151 - - 8 Y 0 N - - TEKT4 Glu394Lys E394K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - TEKT4 Ala405Thr A405T not reviewed Insufficiently evaluated not reviewed unknown Array rs3209453 10 84 0.119048 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TEKT4 Arg424Cys R424C not reviewed Insufficiently evaluated not reviewed unknown Array rs1052809 5 10758 0.00046477 25 0 25 0 0 - - - - - - - - - - - - - - - - 0.054 - - 8 Y 0 N - - TEKT5 Gln315Arg Q315R not reviewed Insufficiently evaluated not reviewed unknown Array rs2719710 5173 10758 0.480851 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEKT5 Met239Thr M239T not reviewed Insufficiently evaluated not reviewed unknown Array rs17684500 22 10758 0.00204499 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 2 N - - TELO2 Glu7Gln E7Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2667660 227 10758 0.0211006 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TELO2 Glu7Gly E7G not reviewed Insufficiently evaluated not reviewed unknown Array rs2667661 209 10758 0.0194274 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TELO2 Gln146Arg Q146R not reviewed Insufficiently evaluated not reviewed unknown Array rs2235624 5027 10432 0.481883 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - TELO2 Ala511Val A511V not reviewed Insufficiently evaluated not reviewed unknown Array rs58099766 283 10758 0.026306 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TELO2 Pro590Leu P590L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10754 0.00390552 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.324 - - 7 Y 1 N - - TELO2 Gln674Arg Q674R not reviewed Insufficiently evaluated not reviewed unknown Array rs2248128 4355 10756 0.40489 38 0 57 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TELO2 Arg675Trp R675W not reviewed Insufficiently evaluated not reviewed unknown Array 116 10756 0.0107847 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TENC1 Arg10Thr R10T not reviewed Insufficiently evaluated not reviewed unknown Array rs12369033 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TENC1 Ser229Thr S229T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TENC1 Ser353Thr S353T not reviewed Insufficiently evaluated not reviewed unknown Array rs11170389 240 10758 0.022309 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.184 - - -2 - 0 N - - TENC1 Ser363Thr S363T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TENC1 Thr252Ala T252A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TENC1 Thr376Ala T376A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - 1 - 0 N - - TENC1 Thr386Ala T386A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TENC1 Val316Ala V316A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TENC1 Val440Ala V440A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - TENC1 Val450Ala V450A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TENC1 Ala546Thr A546T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TENC1 Ala670Thr A670T not reviewed Insufficiently evaluated not reviewed unknown Array rs11558984 458 10756 0.0425809 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - TENC1 Ala680Thr A680T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TENC1 Ile1113Leu I1113L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TENC1 Ile1237Leu I1237L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TENC1 Ile1247Leu I1247L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TEP1 Thr2501Ile T2501I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TEP1 Ile2486Met I2486M not reviewed Insufficiently evaluated not reviewed unknown Array rs938886 3086 10758 0.286856 29 0 34 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - TEP1 Asp2259Gly D2259G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TEP1 Val2214Ile V2214I not reviewed Insufficiently evaluated not reviewed unknown Array rs1713449 2970 10758 0.276074 21 0 26 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TEP1 Ser2149Asn S2149N not reviewed Insufficiently evaluated not reviewed unknown Array rs35165628 127 10758 0.0118052 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TEP1 Gln1964His Q1964H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TEP1 Gly1780Arg G1780R not reviewed Insufficiently evaluated not reviewed unknown Array rs35517499 184 10758 0.0171035 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TEP1 Arg1661Gln R1661Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34401320 269 10758 0.0250046 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TEP1 Arg1646Trp R1646W not reviewed Insufficiently evaluated not reviewed unknown Array rs73585176 84 10758 0.00780814 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TEP1 Cys1468Tyr C1468Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1713456 2724 10758 0.253207 20 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - TEP1 Ser1447Thr S1447T not reviewed Insufficiently evaluated not reviewed unknown Array rs1713457 865 10758 0.0804053 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 - 2 - - TEP1 Gly1408Arg G1408R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229100 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - TEP1 Glu1253Gly E1253G not reviewed Insufficiently evaluated not reviewed unknown Array 154 10756 0.0143176 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TEP1 Ser1195Pro S1195P not reviewed Insufficiently evaluated not reviewed unknown Array rs1760904 6646 10758 0.617773 50 0 82 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - TEP1 Arg1055Cys R1055C not reviewed Insufficiently evaluated not reviewed unknown Array rs1760903 5958 10758 0.55382 50 0 79 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 - 1 - - TEP1 Ser510Leu S510L not reviewed Insufficiently evaluated not reviewed unknown Array rs4982051 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TEP1 Lys434Asn K434N not reviewed Insufficiently evaluated not reviewed unknown Array rs17111188 472 10758 0.0438743 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TEP1 Lys368Arg K368R not reviewed Insufficiently evaluated not reviewed unknown Array rs2228035 435 10758 0.040435 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TEP1 Asn307Lys N307K not reviewed Insufficiently evaluated not reviewed unknown Array rs1760898 3191 10758 0.296616 31 0 41 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TEP1 Thr137Met T137M not reviewed Insufficiently evaluated not reviewed unknown Array rs10083536 470 10758 0.0436884 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TEP1 Ser116Pro S116P not reviewed Insufficiently evaluated not reviewed unknown Array rs1760897 4143 10758 0.385109 36 0 45 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 3 - - TEPP Ser233Asn S233N not reviewed Insufficiently evaluated not reviewed unknown Array rs9934227 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEPP Ser260Asn S260N not reviewed Insufficiently evaluated not reviewed unknown Array rs9934227 9482 10758 0.881391 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TERT Glu280Lys E280K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.366 Y Y 0 - 4 - 1 - - TERT Ala279Thr A279T benign Low clinical importance, Uncertain benign undefined Array 214 10698 0.0200037 0 0 0 2 2 0 Y - - 3 Y 0 Y - - - - Y - - - 0.778 Y Y 1 - 4 - 5 0 0 Reported as a rare but probably nonpathogenic polymorphism occurring in controls as well as patients. Other defects in this gene are associated with telomere shortening which may cause aplastic anemia or dyskeratosis congenita. TESK1 Cys499Tyr C499Y not reviewed Insufficiently evaluated not reviewed unknown Array 69 10720 0.00643657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TESK1 Gly602Asp G602D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TESK2 Arg455Cys R455C not reviewed Insufficiently evaluated not reviewed unknown Array rs17853159 540 9816 0.0550122 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 1 - 1 - - TESK2 Arg388Gln R388Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 9950 0.00080402 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TESK2 Phe372Cys F372C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 2 N - - TESSP1 Gly57Ser G57S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TESSP1 Phe233Cys F233C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - TESSP5 Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TESSP5 Pro130Leu P130L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TET1 Asp162Gly D162G not reviewed Insufficiently evaluated not reviewed unknown Array rs10823229 3052 10758 0.283696 25 0 27 0 0 - - - - - - - - - - - - - - - - 0.059 - - 4 Y 0 N - - TET1 Ser193Thr S193T not reviewed Insufficiently evaluated not reviewed unknown Array rs12773594 1465 10758 0.136178 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TET1 Ala256Val A256V not reviewed Insufficiently evaluated not reviewed unknown Array rs12221107 585 10758 0.0543781 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - TET1 Asp344Glu D344E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - -2 - 1 N - - TET1 Val435Ile V435I not reviewed Insufficiently evaluated not reviewed unknown Array rs73276466 190 10758 0.0176613 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TET1 Ser487Leu S487L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - TET1 Ser570Gly S570G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 1 N - - TET1 Cys832Tyr C832Y not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TET1 Ala985Ser A985S not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TET1 Asn1018Ser N1018S not reviewed Insufficiently evaluated not reviewed unknown Array rs16925541 565 10758 0.0525191 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 0 N - - TET1 Lys1019Glu K1019E not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 1 N - - TET1 Ile1123Met I1123M not reviewed Insufficiently evaluated not reviewed unknown Array rs3998860 7754 10758 0.720766 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TET1 Ser1793Asn S1793N not reviewed Insufficiently evaluated not reviewed unknown Array rs73262462 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - TET2 Pro29Arg P29R not reviewed Insufficiently evaluated not reviewed unknown Array rs12498609 225 10758 0.0209147 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TET2 Leu34Phe L34F not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - TET2 Val218Met V218M not reviewed Insufficiently evaluated not reviewed unknown Array rs6843141 1231 10758 0.114426 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TET2 Arg487Trp R487W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - TET2 Arg487Met R487M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - TET2 Gln810Arg Q810R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - TET2 Ser1039Leu S1039L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.815 - - 6 Y 1 N - - TET2 Ile1762Val I1762V not reviewed Insufficiently evaluated not reviewed unknown Array rs2454206 1013 3234 0.313234 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TET2 His1778Arg H1778R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621450 189 3234 0.0584416 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 1 N - - TET3 Val455Met V455M not reviewed Insufficiently evaluated not reviewed unknown Array rs72816199 159 9858 0.016129 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX101 Gly117Val G117V not reviewed Insufficiently evaluated not reviewed unknown Array rs35033974 7 126 0.0555556 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TEX101 Gly99Val G99V not reviewed Insufficiently evaluated not reviewed unknown Array 975 10758 0.0906302 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 8 Y 1 N - - TEX101 Ile189Thr I189T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 3 - 0 N - - TEX101 Ile207Thr I207T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEX11 Glu436Lys E436K not reviewed Insufficiently evaluated not reviewed unknown Array rs4844247 572 8761 0.0652893 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEX11 Glu451Lys E451K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX11 Lys115Arg K115R not reviewed Insufficiently evaluated not reviewed unknown Array rs6525433 1207 8757 0.137833 16 0 25 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TEX11 Lys130Arg K130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - TEX13B Gly197Arg G197R not reviewed Insufficiently evaluated not reviewed unknown Array rs41300872 887 8758 0.101279 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TEX14 Gly1082Asp G1082D not reviewed Insufficiently evaluated not reviewed unknown Array rs6503870 7080 10758 0.658115 44 0 69 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TEX14 Asn780Asp N780D not reviewed Insufficiently evaluated not reviewed unknown Array rs389389 1735 10758 0.161275 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TEX14 Ile205Met I205M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - TEX14 Arg6Ser R6S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 1 - - TEX14 Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - TEX15 Asp2138Asn D2138N not reviewed Insufficiently evaluated not reviewed unknown Array rs60474250 3 10752 0.000279017 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - TEX15 Ser1990Asn S1990N not reviewed Insufficiently evaluated not reviewed unknown Array rs61738844 194 10742 0.01806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TEX15 Asn1979Ser N1979S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740968 777 10748 0.0722925 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEX15 Asp1513Glu D1513E not reviewed Insufficiently evaluated not reviewed unknown Array rs61732457 733 10756 0.068148 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TEX15 Leu1337Val L1337V not reviewed Insufficiently evaluated not reviewed unknown Array rs323344 3477 10754 0.323322 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEX15 Asn1311Ser N1311S not reviewed Insufficiently evaluated not reviewed unknown Array rs323345 3493 10754 0.324809 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEX15 Asn1250Ser N1250S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736163 1312 10756 0.121978 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TEX15 Ile1035Val I1035V not reviewed Insufficiently evaluated not reviewed unknown Array rs323346 3742 10750 0.348093 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TEX15 Cys104Arg C104R not reviewed Insufficiently evaluated not reviewed unknown Array rs323347 3917 10758 0.364101 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TEX2 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array rs28605685 778 10758 0.0723183 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.937 - - 3 - 1 N - - TEX264 Gly292Glu G292E not reviewed Insufficiently evaluated not reviewed unknown Array rs11553574 952 10742 0.0886241 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TEX264 Leu302Pro L302P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737032 505 10710 0.0471522 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TEX9 Lys262Arg K262R not reviewed Insufficiently evaluated not reviewed unknown Array 69 10744 0.00642219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - TF Gly277Ser G277S not reviewed Insufficiently evaluated not reviewed unknown Array rs1799899 363 10758 0.0337423 2 0 2 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - TF Asp296Gly D296G not reviewed Insufficiently evaluated not reviewed unknown Array rs8177238 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - TF Ile448Val I448V not reviewed Insufficiently evaluated not reviewed unknown Array rs2692696 10752 10758 0.999442 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TF Pro589Ser P589S not reviewed Insufficiently evaluated not reviewed unknown Array rs1049296 1421 10758 0.132088 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - TFAM Ser12Thr S12T not reviewed Insufficiently evaluated not reviewed unknown Array rs1937 763 10752 0.0709635 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - TFAP2A Thr34Ala T34A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TFAP2A Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TFAP2A Thr40Ala T40A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TFAP2B Trp106Stop W106X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - TFAP2D Phe74Leu F74L not reviewed Insufficiently evaluated not reviewed unknown Array 672 10758 0.0624651 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.815 - - 0 - 0 N - - TFAP2D Ala175Glu A175E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - TFAP2D Val443Met V443M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TFAP4 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60341751 107 10756 0.00994794 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TFAP4 Gln218His Q218H not reviewed Insufficiently evaluated not reviewed unknown Array rs251732 6436 10758 0.598252 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TFAP4 Leu197Val L197V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFB1M Arg256Gln R256Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73579353 71 10758 0.00659974 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TFB2M His264Tyr H264Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12037377 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 4 - - TFCP2 Arg387His R387H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - TFCP2L1 Arg43Cys R43C not reviewed Insufficiently evaluated not reviewed unknown Array rs36096257 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.109 - - 8 Y 0 N - - TFE3 Leu207Phe L207F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TFEB Ser195Asn S195N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFEB Val130Met V130M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFF3 Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array rs11701143 660 10758 0.0613497 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TFG Gln256His Q256H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TFIP11 Asp294Glu D294E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TFPI Asn221Ser N221S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFR2 Ala364Thr A364T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 1 - 5 - 1 - - TFR2 Ile238Met I238M not reviewed Insufficiently evaluated not reviewed unknown Array rs34242818 463 10758 0.0430377 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -1 - 3 - 10 - - TFRC Asp755Asn D755N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 1 - 1 - - TFRC Trp754Cys W754C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TFRC Trp754Ser W754S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TFRC Gly142Ser G142S not reviewed Insufficiently evaluated not reviewed unknown Array rs3817672 4655 10758 0.432701 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TFRC Thr104Ala T104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TG Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.16 Y - -4 - 2 - 1 - - TG Gln515Glu Q515E not reviewed Insufficiently evaluated not reviewed unknown Array rs180222 151 10758 0.0140361 3 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TG Gly653Asp G653D not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.957 Y - 4 Y 4 - 1 - - TG Ser734Ala S734A not reviewed Insufficiently evaluated not reviewed unknown Array rs180223 6365 10758 0.591653 44 0 68 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 3 N 6 - - TG Met1028Val M1028V not reviewed Insufficiently evaluated not reviewed unknown Array rs853326 6355 10758 0.590723 42 0 65 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 1 N - - TG Leu1063Met L1063M not reviewed Insufficiently evaluated not reviewed unknown Array rs11992497 88 10758 0.00817996 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.94 Y - -3 - 3 N - - TG Tyr1165Cys Y1165C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746583 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 6 Y 3 N - - TG Ser1222Leu S1222L not reviewed Insufficiently evaluated not reviewed unknown Array rs12549018 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.033 Y - 6 Y 1 N - - TG Asp1312Gly D1312G not reviewed Insufficiently evaluated not reviewed unknown Array rs2069556 4903 10758 0.455754 17 0 21 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 - 2 - - TG Thr1498Met T1498M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.894 Y - 2 - 3 N - - TG Ile1790Met I1790M not reviewed Insufficiently evaluated not reviewed unknown Array rs73710715 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TG Asp1838Asn D1838N not reviewed Insufficiently evaluated not reviewed unknown Array rs2069561 4027 10758 0.374326 21 0 26 0 0 - - - - - - - - - - - - Y - - - 0.061 Y - -1 - 1 N - - TG Met1974Thr M1974T not reviewed Insufficiently evaluated not reviewed unknown Array rs56230101 1583 10758 0.147146 13 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - TG Arg1999Trp R1999W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076740 4247 10758 0.394776 36 0 48 0 0 1 Y - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - TG Ser2132Leu S2132L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741457 477 10758 0.0443391 6 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - TG Thr2273Met T2273M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.188 Y - 2 - 1 N - - TG Ala2422Thr A2422T not reviewed Insufficiently evaluated not reviewed unknown Array rs73354644 534 10758 0.0496375 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 1 - 2 - 1 - - TG Val2472Leu V2472L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730222 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.878 Y - 0 - 4 - 1 - - TG Trp2501Arg W2501R not reviewed Insufficiently evaluated not reviewed unknown Array rs2069569 6606 10758 0.614055 46 0 69 0 0 5 Y - - - - - - - - - - Y - - - 0.031 Y - 7 Y 1 N - - TG Phe2526Leu F2526L not reviewed Insufficiently evaluated not reviewed unknown Array rs12114109 425 10758 0.0395055 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.916 Y - 0 - 3 N - - TG Arg2530Gln R2530Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1133076 6158 10758 0.572411 42 0 66 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 2 - 2 - - TG Ala2542Val A2542V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 Y - 2 - 3 N - - TG Asn2616Ser N2616S not reviewed Insufficiently evaluated not reviewed unknown Array rs10091530 1033 10758 0.0960216 12 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - TG His2661Tyr H2661Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - -1 - 1 N - - TGDS Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array rs34991132 57 10758 0.00529838 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - TGFB1 Arg25Pro R25P pathogenic Low clinical importance, Uncertain pathogenic other Array rs1800471 487 9962 0.0488858 2 0 2 4 4 - - - - 3 Y 0 Y 2 Y 0 Y Y - - Y - Y Y 5 Y 5 N 10 0 0 This variant in a growth factor gene is associated with variation in TGFB1 levels; this has been associated with various pathogenic and some protective effects, including: more hepatic fibrosis progression in hep C patients, lower risk of cleft palate, anticorrelation with longevity, higher risk of myocardial infarction and lower risk of hypertension. TGFB1 Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array rs1800470 4771 7366 0.647706 12 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 5 - - TGFB1I1 Gln112His Q112H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TGFB1I1 Gln129His Q129H not reviewed Insufficiently evaluated not reviewed unknown Array rs45475699 329 10758 0.0305819 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.288 - - -1 - 1 N - - TGFB3 Arg300Gln R300Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - TGFBI Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.157 Y - 2 - 1 N - - TGFBR3 Ser15Phe S15F not reviewed Insufficiently evaluated not reviewed unknown Array rs1805110 1249 10758 0.1161 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TGFBRAP1 His725Arg H725R not reviewed Insufficiently evaluated not reviewed unknown Array rs2241797 6345 10756 0.589903 40 0 54 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TGFBRAP1 Gly376Ser G376S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TGIF1 Pro143Ser P143S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TGIF1 Pro163Ser P163S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TGIF1 Pro177Ser P177S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TGIF1 Pro292Ser P292S not reviewed Insufficiently evaluated not reviewed unknown Array rs4468717 644 10758 0.0598624 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TGIF1 Pro143Leu P143L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TGIF1 Pro163Leu P163L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TGIF1 Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TGIF1 Pro292Leu P292L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229333 464 10758 0.0431307 7 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - TGIF2LX Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array rs2290380 6664 8761 0.760644 44 0 84 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TGIF2LY Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TGM1 Asp802Val D802V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y 8 Y 2 N - - TGM3 Thr13Lys T13K not reviewed Insufficiently evaluated not reviewed unknown Array rs214803 7580 10758 0.704592 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TGM3 Ile163Leu I163L not reviewed Insufficiently evaluated not reviewed unknown Array rs6048066 1274 10758 0.118423 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TGM3 Ser249Asn S249N not reviewed Insufficiently evaluated not reviewed unknown Array rs214814 1532 10758 0.142406 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TGM3 Gly654Arg G654R not reviewed Insufficiently evaluated not reviewed unknown Array rs214830 7578 10758 0.704406 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TGM4 Glu100Asp E100D not reviewed Insufficiently evaluated not reviewed unknown Array rs2271087 2777 10758 0.258133 33 0 43 0 0 - - - - - - - - - - - - - - - - 0.954 - - -2 - 1 N - - TGM4 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.469 - - -3 - 1 N - - TGM4 Tyr244His Y244H not reviewed Insufficiently evaluated not reviewed unknown Array rs9818345 686 10758 0.0637665 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 - 4 - - TGM4 Ser249Thr S249T not reviewed Insufficiently evaluated not reviewed unknown Array rs937838 889 10758 0.0826362 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.853 - - -2 - 1 N - - TGM4 Glu313Lys E313K not reviewed Insufficiently evaluated not reviewed unknown Array rs1995641 4677 10758 0.434746 47 0 66 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - TGM4 Arg372Cys R372C not reviewed Insufficiently evaluated not reviewed unknown Array rs3749195 5768 10758 0.536159 47 0 67 0 0 - - - - - - - - - - - - - - - - 0.419 - - 8 Y 0 N - - TGM4 Val409Ile V409I not reviewed Insufficiently evaluated not reviewed unknown Array rs9876921 5076 10758 0.471835 48 0 68 0 0 - - - - - - - - - - - - - - - - 0.078 - - -4 - 0 N - - TGM4 Glu437Gln E437Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1395388 726 10758 0.0674847 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - TGM5 Val575Ala V575A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TGM5 Val657Ala V657A not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - TGM5 Glu525Ala E525A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TGM5 Glu607Ala E607A not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - TGM5 Val422Met V422M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - TGM5 Val504Met V504M not reviewed Insufficiently evaluated not reviewed unknown Array rs7171797 429 10758 0.0398773 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 1 - 5 - - TGM5 Ala270Gly A270G not reviewed Insufficiently evaluated not reviewed unknown Array rs28756768 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGM5 Ala352Gly A352G not reviewed Insufficiently evaluated not reviewed unknown Array rs28756768 2290 10758 0.212865 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TGM5 Ser15Cys S15C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744878 344 10758 0.0319762 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 1 - 1 - - TGM6 Met58Val M58V not reviewed Insufficiently evaluated not reviewed unknown Array rs2076405 10082 10758 0.937163 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TGM6 Ala141Glu A141E not reviewed Insufficiently evaluated not reviewed unknown Array rs73894929 361 10758 0.0335564 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TGM6 Arg211Cys R211C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TGM6 Arg368Gln R368Q not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TGM6 Ala376Thr A376T not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - TGM6 Val553Met V553M not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TGM7 Val515Leu V515L not reviewed Insufficiently evaluated not reviewed unknown Array rs59550885 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - TGM7 Gly241Glu G241E not reviewed Insufficiently evaluated not reviewed unknown Array rs60154727 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - TGOLN2 Arg259Trp R259W not reviewed Insufficiently evaluated not reviewed unknown Array rs4247303 4433 9890 0.448231 42 0 60 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 1 N - - TGOLN2 Thr76Asn T76N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - TGS1 Ile16Thr I16T not reviewed Insufficiently evaluated not reviewed unknown Array rs1818 9104 10758 0.846254 55 0 101 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TGS1 Ile511Thr I511T not reviewed Insufficiently evaluated not reviewed unknown Array rs10100659 1701 10756 0.158144 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TGS1 Thr595Ala T595A not reviewed Insufficiently evaluated not reviewed unknown Array rs10109493 1359 10758 0.126325 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TGS1 Phe754Cys F754C not reviewed Insufficiently evaluated not reviewed unknown Array rs7823773 1712 10758 0.159137 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TH Asp154Glu D154E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 9 - - TH Asp181Glu D181E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 9 - - TH Asp185Glu D185E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.886 Y Y -2 - 5 - 4 - - TH Val108Met V108M not reviewed Insufficiently evaluated not reviewed unknown Array rs6356 3114 10756 0.289513 23 0 31 5 5 1 Y - - - - - - - - - - Y - - - - Y Y 0 - Tyrosine Hydroxylase Deficiency 0 0 0 0 - 3 - 10 - - TH Val112Met V112M not reviewed Insufficiently evaluated not reviewed unknown Array rs6356 46 128 0.359375 24 0 35 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 10 - - TH Val81Met V81M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - THADA Cys1605Tyr C1605Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35720761 1076 9936 0.108293 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.387 - - 6 Y 1 - 2 - - THADA Thr1385Ser T1385S not reviewed Insufficiently evaluated not reviewed unknown Array rs33979934 2483 10276 0.241631 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - THADA Leu810Met L810M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - THADA Val699Ile V699I not reviewed Insufficiently evaluated not reviewed unknown Array rs17031056 1804 9550 0.188901 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - THAP11 Leu157Val L157V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THAP4 Ser121Gly S121G not reviewed Insufficiently evaluated not reviewed unknown Array rs7424328 5061 10750 0.470791 44 0 67 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - THAP6 Gly51Ser G51S not reviewed Insufficiently evaluated not reviewed unknown Array rs34942800 272 10758 0.0252835 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - THAP7 Ala115Pro A115P not reviewed Insufficiently evaluated not reviewed unknown Array rs426938 9173 10758 0.852668 54 0 92 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - THAP7 Ala115Ser A115S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - THAP8 Arg189Trp R189W not reviewed Insufficiently evaluated not reviewed unknown Array rs10420353 2828 10596 0.266893 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - THAP8 Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10421966 2878 10646 0.270336 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - THAP8 Pro157Ser P157S not reviewed Insufficiently evaluated not reviewed unknown Array rs34250145 808 10734 0.0752748 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 1 N - - THAP8 Thr156Ile T156I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10730 0.00158434 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.764 - - 3 - 1 N - - THAP8 Thr156Asn T156N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.764 - - 1 - 1 N - - THAP8 Lys112Arg K112R not reviewed Insufficiently evaluated not reviewed unknown Array rs3810450 236 9796 0.0240915 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - THAP8 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array rs3810449 303 10754 0.0281756 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - THAP9 Ile134Thr I134T not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - THAP9 Met284Ile M284I not reviewed Insufficiently evaluated not reviewed unknown Array rs1031639 10513 10756 0.977408 56 0 108 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - THAP9 Leu299Phe L299F not reviewed Insufficiently evaluated not reviewed unknown Array rs897945 4497 10758 0.418014 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 0 N - - THAP9 Asn812Asp N812D not reviewed Insufficiently evaluated not reviewed unknown Array rs6535411 10513 10754 0.97759 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - THAP9 Val833Ile V833I not reviewed Insufficiently evaluated not reviewed unknown Array rs35532215 181 10756 0.0168278 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - THBD Gly502Arg G502R not reviewed Insufficiently evaluated not reviewed unknown Array 71 10708 0.00663056 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.838 Y Y 6 Y 3 N - - THBD Ala473Val A473V benign Low clinical importance, Uncertain benign unknown Array rs1042579 1510 10756 0.140387 22 0 24 1 0 1 Y - - ! Y - - - - - - Y - - - - Y Y 2 - 3 - 1 0 0 While other variants in THBD are associated with atypical hemolytic-uremic syndrome, this variant is not very rare and appears to most likely be benign. Delvaeye et al. note that the frequency of this variant is not significantly different between affected subjects and unaffected ones, and PolyPhen-2 predicts that it is benign as well. THBS1 Ser24Ala S24A not reviewed Insufficiently evaluated not reviewed unknown Array rs41515347 380 10746 0.035362 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.303 - - -1 - 1 N - - THBS1 Thr523Ala T523A not reviewed Insufficiently evaluated not reviewed unknown Array rs2292305 2469 10758 0.229504 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - THBS1 Asn700Ser N700S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228262 917 10758 0.0852389 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - THBS2 Leu375Phe L375F not reviewed Insufficiently evaluated not reviewed unknown Array rs35404985 285 10744 0.0265264 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - THBS2 Ile130Thr I130T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THBS3 Asp710Asn D710N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.911 - - -1 - 2 N - - THBS3 Ser279Gly S279G not reviewed Insufficiently evaluated not reviewed unknown Array rs35154152 1667 10758 0.154954 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - THBS4 Ala387Pro A387P not reviewed Insufficiently evaluated not reviewed unknown Array rs1866389 1921 10758 0.178565 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - THBS4 Asp568Asn D568N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - -1 - 0 N - - THEG Asp329Asn D329N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THEG Asp353Asn D353N not reviewed Insufficiently evaluated not reviewed unknown Array rs3764656 275 10758 0.0255624 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - THEG His273Tyr H273Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THEG His297Tyr H297Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10422863 547 10758 0.0508459 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - THEG Arg178Ile R178I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303810 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - THEG Arg202Ile R202I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303810 436 10758 0.040528 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - THEG Trp168Stop W168X not reviewed Insufficiently evaluated not reviewed unknown Array rs73489977 416 10758 0.0386689 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - THEM4 Lys98Asn K98N not reviewed Insufficiently evaluated not reviewed unknown Array rs73009658 105 10758 0.00976018 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.707 - - 1 - 1 N - - THEM4 Leu17Arg L17R not reviewed Insufficiently evaluated not reviewed unknown Array rs3748805 5345 5792 0.922825 39 0 70 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - THEM5 Leu206Val L206V not reviewed Insufficiently evaluated not reviewed unknown Array rs6587624 10708 10758 0.995352 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - THEM5 Asp197Gly D197G not reviewed Insufficiently evaluated not reviewed unknown Array rs6587625 8850 10758 0.822644 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - THEM5 Ser68Asn S68N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - THG1L Leu232Pro L232P not reviewed Insufficiently evaluated not reviewed unknown Array rs2270812 7357 10758 0.683863 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - THNSL1 Leu52Ile L52I not reviewed Insufficiently evaluated not reviewed unknown Array rs73608227 179 10758 0.0166388 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - THNSL1 Ala140Val A140V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - THNSL1 Pro239Arg P239R not reviewed Insufficiently evaluated not reviewed unknown Array rs41279890 376 10758 0.0349507 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - THNSL1 Gln399Arg Q399R not reviewed Insufficiently evaluated not reviewed unknown Array rs41279894 377 10758 0.0350437 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - THNSL1 Pro659Leu P659L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 7 Y 1 N - - THNSL2 Gly41Glu G41E not reviewed Insufficiently evaluated not reviewed unknown Array rs4129190 9405 10758 0.874233 55 0 97 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - THNSL2 Pro418Ser P418S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10436 0.00153315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - THOC3 Gly340Stop G340X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - THOC4 Met207Thr M207T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THOC5 Val579Ile V579I not reviewed Insufficiently evaluated not reviewed unknown Array rs1049534 2051 10758 0.190649 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - THOC5 Val525Ile V525I not reviewed Insufficiently evaluated not reviewed unknown Array rs737976 4840 10758 0.449898 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - THOC5 Leu45Val L45V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740613 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THOC6 Met82Val M82V not reviewed Insufficiently evaluated not reviewed unknown Array rs73483542 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - THOP1 Arg36Cys R36C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.351 - - 8 Y 1 N - - THRAP3 Ala201Val A201V not reviewed Insufficiently evaluated not reviewed unknown Array rs6425977 8372 10758 0.778212 51 0 84 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - THRAP3 Thr286Ala T286A not reviewed Insufficiently evaluated not reviewed unknown Array rs58840555 668 10758 0.0620933 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - THRSP His72Asn H72N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.566 - - 0 - 1 N - - THSD1 Lys715Arg K715R not reviewed Insufficiently evaluated not reviewed unknown Array rs9536041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - THSD1 Lys768Arg K768R not reviewed Insufficiently evaluated not reviewed unknown Array rs9536041 452 10758 0.0420152 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - THSD1 Gly697Ala G697A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - THSD1 Gly750Ala G750A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - THSD1 Arg641Ile R641I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - THSD1 Arg694Ile R694I not reviewed Insufficiently evaluated not reviewed unknown Array rs73484102 178 10758 0.0165458 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - THSD1 Asp438His D438H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THSD1 Asp491His D491H not reviewed Insufficiently evaluated not reviewed unknown Array rs56013270 269 10758 0.0250046 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - THSD1 Arg224Gly R224G not reviewed Insufficiently evaluated not reviewed unknown Array rs9536062 661 10758 0.0614426 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 0 N - - THSD4 Ala319Val A319V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 1 N - - THSD4 Asp395Asn D395N not reviewed Insufficiently evaluated not reviewed unknown Array 61 10022 0.00608661 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - -1 - 2 N - - THSD4 Trp467Stop W467X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - THSD4 Ser585Leu S585L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10290 0.000777453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - THSD4 Ala653Ser A653S not reviewed Insufficiently evaluated not reviewed unknown Array rs28691775 366 10032 0.0364833 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - THSD7A Asp771Glu D771E not reviewed Insufficiently evaluated not reviewed unknown Array rs2285744 3376 9790 0.344842 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 1 N - - THSD7A Asn583Asp N583D not reviewed Insufficiently evaluated not reviewed unknown Array rs47 8268 10048 0.82285 54 0 103 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - THSD7A Met489Val M489V not reviewed Insufficiently evaluated not reviewed unknown Array 10 9640 0.00103734 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THSD7A Phe238Leu F238L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074599 40 10276 0.00389256 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.845 - - 0 - 2 - 3 - - THSD7B Arg322His R322H not reviewed Insufficiently evaluated not reviewed unknown Array rs61741426 394 9692 0.0406521 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - THSD7B Asp472Glu D472E not reviewed Insufficiently evaluated not reviewed unknown Array rs4954474 3953 10248 0.385734 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - THSD7B Thr481Met T481M not reviewed Insufficiently evaluated not reviewed unknown Array rs61746979 487 9816 0.0496129 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THSD7B Ser548Leu S548L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10010 0.0031968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - THSD7B His1163Leu H1163L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - THSD7B Asn1472Asp N1472D not reviewed Insufficiently evaluated not reviewed unknown Array rs10206850 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THTPA Val118Leu V118L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.558 - - 0 - 1 N - - THTPA His176Arg H176R not reviewed Insufficiently evaluated not reviewed unknown Array rs34015250 791 10758 0.0735267 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 1 N - - THUMPD1 Glu311Asp E311D not reviewed Insufficiently evaluated not reviewed unknown Array rs11074471 1351 10758 0.125581 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - THUMPD2 Ile125Met I125M not reviewed Insufficiently evaluated not reviewed unknown Array rs61910750 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THUMPD3 Glu340Stop E340X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - THUMPD3 Arg459Gln R459Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1129174 1271 10758 0.118145 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - TIAF1 Val53Met V53M not reviewed Insufficiently evaluated not reviewed unknown Array rs73986791 235 10758 0.0218442 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIAM1 Gly1539Asp G1539D not reviewed Insufficiently evaluated not reviewed unknown Array rs34393355 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.463 - - 4 Y 1 N - - TIAM1 Lys1469Arg K1469R not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - -3 - 0 N - - TIAM1 Asp1023Val D1023V not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.053 - - 8 Y 0 N - - TIAM1 Gln844His Q844H not reviewed Insufficiently evaluated not reviewed unknown Array rs16987932 595 10758 0.0553077 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.471 - - -1 - 0 N - - TIAM1 Gly247Val G247V not reviewed Insufficiently evaluated not reviewed unknown Array rs2070417 731 10758 0.0679494 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 1 N - - TIAM1 Gly247Arg G247R not reviewed Insufficiently evaluated not reviewed unknown Array rs2070418 749 10758 0.0696226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 1 N - - TIAM2 Arg332His R332H not reviewed Insufficiently evaluated not reviewed unknown Array rs931312 1701 10758 0.158115 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - TIAM2 Ala807Thr A807T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIAM2 Gly946Arg G946R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TIAM2 Ala979Thr A979T not reviewed Insufficiently evaluated not reviewed unknown Array rs73577403 34 10758 0.00316044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TIAM2 Ser1089Pro S1089P not reviewed Insufficiently evaluated not reviewed unknown Array rs4259257 10441 10758 0.970534 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TIAM2 Ser14Pro S14P not reviewed Insufficiently evaluated not reviewed unknown Array rs4259257 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIAM2 Arg1101Cys R1101C not reviewed Insufficiently evaluated not reviewed unknown Array rs11751128 2261 10758 0.210169 12 0 14 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - TIAM2 Arg26Cys R26C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TIAM2 Ser1530Cys S1530C not reviewed Insufficiently evaluated not reviewed unknown Array rs57405392 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - TIAM2 Ser455Cys S455C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIE1 Arg594Trp R594W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.037 - - 7 Y 0 N - - TIFAB Arg56His R56H not reviewed Insufficiently evaluated not reviewed unknown Array rs73296455 269 10400 0.0258654 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TIGD1 Ser561Leu S561L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 6 Y 0 N - - TIGD1 Thr13Ile T13I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIGD2 Cys202Tyr C202Y not reviewed Insufficiently evaluated not reviewed unknown Array 67 10756 0.00622908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIGD2 His475Arg H475R not reviewed Insufficiently evaluated not reviewed unknown Array rs2280099 1446 10758 0.134412 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 1 N - - TIGD3 Thr377Ala T377A not reviewed Insufficiently evaluated not reviewed unknown Array rs61732319 1438 10758 0.133668 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TIGD4 Ile439Val I439V not reviewed Insufficiently evaluated not reviewed unknown Array rs4696354 6802 10758 0.632274 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TIGD5 Met519Ile M519I not reviewed Insufficiently evaluated not reviewed unknown Array rs10282929 7058 10444 0.675795 37 0 54 0 0 - - - - - - - - - - - - - - - - 0.658 - - -1 - 0 N - - TIGD5 Val543Met V543M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10660 0.000281425 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - TIGD6 Gln327Arg Q327R not reviewed Insufficiently evaluated not reviewed unknown Array rs10875553 7661 10758 0.712121 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TIMD4 Val337Met V337M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - TIMD4 Val365Met V365M not reviewed Insufficiently evaluated not reviewed unknown Array rs7731575 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - TIMD4 Val240Ala V240A not reviewed Insufficiently evaluated not reviewed unknown Array rs6873053 10164 10758 0.944785 45 0 89 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TIMD4 Thr179Ile T179I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744066 198 10758 0.0184049 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.87 - - 3 - 2 N - - TIMD4 Val172Met V172M not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TIMD4 Thr170Lys T170K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743250 353 10758 0.0328128 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - TIMELESS Met1055Leu M1055L not reviewed Insufficiently evaluated not reviewed unknown Array rs56087575 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.896 - - -3 - 2 N - - TIMELESS Pro1018Leu P1018L not reviewed Insufficiently evaluated not reviewed unknown Array rs2291739 5260 10758 0.488938 30 0 44 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 1 N - - TIMELESS Ile1017Thr I1017T not reviewed Insufficiently evaluated not reviewed unknown Array rs61376834 413 10758 0.03839 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIMELESS Met870Val M870V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733875 610 10758 0.056702 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.748 - - 0 - 0 N - - TIMELESS Arg831Gln R831Q not reviewed Insufficiently evaluated not reviewed unknown Array rs774047 4061 10758 0.377487 38 0 52 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - TIMELESS Ile455Leu I455L not reviewed Insufficiently evaluated not reviewed unknown Array rs774027 4169 10758 0.387526 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TIMELESS Glu151Gly E151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - TIMM17A Val113Ile V113I not reviewed Insufficiently evaluated not reviewed unknown Array rs4648 814 10758 0.0756646 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 0 N - - TIMM23 Gly23Glu G23E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIMM23 Gly14Val G14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TIMM44 Ser447Thr S447T not reviewed Insufficiently evaluated not reviewed unknown Array rs7257461 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 3 - - TIMM44 Ile372Val I372V not reviewed Insufficiently evaluated not reviewed unknown Array rs11542187 334 10758 0.0310467 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 1 - 2 - - TIMM50 Pro73Ser P73S not reviewed Insufficiently evaluated not reviewed unknown Array rs62120677 461 10752 0.0428757 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIMM50 Ser83Thr S83T not reviewed Insufficiently evaluated not reviewed unknown Array rs2304220 1711 10716 0.159668 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TIMP4 Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TINAG Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array rs16885197 405 10758 0.0376464 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TINAG Gln22Arg Q22R not reviewed Insufficiently evaluated not reviewed unknown Array rs2297980 1134 10758 0.10541 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TINAG Ser158Pro S158P not reviewed Insufficiently evaluated not reviewed unknown Array rs1058768 7550 10758 0.701803 51 0 86 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TINAG Pro199Leu P199L not reviewed Insufficiently evaluated not reviewed unknown Array rs41276062 1421 10758 0.132088 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TINAG Arg381His R381H not reviewed Insufficiently evaluated not reviewed unknown Array rs3195579 1779 10750 0.165488 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TINAG Val413Ile V413I not reviewed Insufficiently evaluated not reviewed unknown Array rs34011963 227 10752 0.0211124 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - TINAG Ile433Leu I433L not reviewed Insufficiently evaluated not reviewed unknown Array rs3736352 542 10758 0.0503811 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TINF2 Gly237Asp G237D not reviewed Insufficiently evaluated not reviewed unknown Array rs17102313 378 10042 0.0376419 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 4 Y 5 - 1 - - TIPIN Asn270Asp N270D not reviewed Insufficiently evaluated not reviewed unknown Array rs34848112 636 10756 0.0591298 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.256 - - -1 - 0 N - - TIPIN Ala267Ser A267S not reviewed Insufficiently evaluated not reviewed unknown Array rs3759786 1210 10756 0.112495 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - TIPIN His151Pro H151P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TIPIN Ala111Gly A111G not reviewed Insufficiently evaluated not reviewed unknown Array rs2063690 891 10758 0.0828221 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 1 N - - TIPIN Arg53Pro R53P not reviewed Insufficiently evaluated not reviewed unknown Array rs9806123 10574 10758 0.982896 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TIRAP Ser55Asn S55N not reviewed Insufficiently evaluated not reviewed unknown Array rs3802813 497 10758 0.0461982 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIRAP Cys134Arg C134R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TIRAP Ser180Leu S180L pharmacogenetic Insufficiently evaluated pharmacogenetic other Array rs8177374 1235 10758 0.114798 3 0 3 0 0 - - - - - - - - - - - - - Y - Y - - - 6 Y 2 N - - TIRAP Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array rs7932976 97 10750 0.00902325 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TJAP1 Asp161Gly D161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TJAP1 Asp171Gly D171G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 4 Y 0 N - - TJAP1 Arg333His R333H not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TJAP1 Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - TJP1 Ile790Val I790V not reviewed Insufficiently evaluated not reviewed unknown Array rs7179270 937 9600 0.0976042 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 - 6 - - TJP1 Asn239His N239H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TJP2 Gln128Lys Q128K not reviewed Insufficiently evaluated not reviewed unknown Array rs41305539 1254 10750 0.116651 12 0 14 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - TJP2 Thr364Met T364M not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.376 Y - 2 - 2 N - - TJP2 Asp482Glu D482E not reviewed Insufficiently evaluated not reviewed unknown Array rs2309428 8128 10758 0.755531 55 0 89 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 2 - - TJP2 Met668Ile M668I not reviewed Insufficiently evaluated not reviewed unknown Array rs34774441 534 10758 0.0496375 5 0 4 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - -1 - 3 N - - TJP2 Ser1010Phe S1010F not reviewed Insufficiently evaluated not reviewed unknown Array 640 10758 0.0594906 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.237 Y - 5 Y 1 N - - TJP2 Thr1054Ala T1054A not reviewed Insufficiently evaluated not reviewed unknown Array rs57728054 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.656 Y - 1 - 2 N - - TJP3 Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array rs2067019 27 122 0.221311 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TJP3 Gly847Asp G847D not reviewed Insufficiently evaluated not reviewed unknown Array rs10408494 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TJP3 Met931Thr M931T not reviewed Insufficiently evaluated not reviewed unknown Array rs1046268 65 128 0.507812 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TK2 Lys30Arg K30R not reviewed Insufficiently evaluated not reviewed unknown Array rs3743716 2509 10588 0.236966 25 0 29 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 6 - - TKTL1 His112Gln H112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TKTL1 His162Gln H162Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TKTL1 His168Gln H168Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TKTL2 Gln590His Q590H not reviewed Insufficiently evaluated not reviewed unknown Array rs11735477 1904 10758 0.176985 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TKTL2 Ala575Asp A575D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.585 - - 5 Y 1 N - - TKTL2 Phe351Ser F351S not reviewed Insufficiently evaluated not reviewed unknown Array rs73866703 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TLE4 Thr327Ala T327A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.327 - - 1 - 2 - 2 - - TLK1 Asp429Tyr D429Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLK1 Asp477Tyr D477Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLK1 Asp525Tyr D525Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TLK2 Ala95Gly A95G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TLK2 Leu117Phe L117F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLK2 Leu149Phe L149F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - TLK2 Asn713Ser N713S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLK2 Asn745Ser N745S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLL1 Gly23Arg G23R not reviewed Insufficiently evaluated not reviewed unknown Array rs72984287 893 10758 0.083008 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TLL1 Ile112Thr I112T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - TLL1 Gln914His Q914H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TLL1 Thr958Ala T958A not reviewed Insufficiently evaluated not reviewed unknown Array rs2291822 996 10758 0.0925823 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TLL2 Arg333Gln R333Q not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.196 - - 0 - 0 N - - TLN1 Arg2275His R2275H not reviewed Insufficiently evaluated not reviewed unknown Array rs73438721 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TLN1 Ala1984Thr A1984T not reviewed Insufficiently evaluated not reviewed unknown Array rs35642290 146 10758 0.0135713 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 4 - - TLN1 Ser1227Leu S1227L not reviewed Insufficiently evaluated not reviewed unknown Array rs2295795 2207 10758 0.20515 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TLN2 Arg37Trp R37W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLN2 Ala1009Thr A1009T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TLN2 Ser1143Leu S1143L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TLN2 Phe2266Leu F2266L not reviewed Insufficiently evaluated not reviewed unknown Array rs3816988 1935 10758 0.179866 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TLN2 Ala2359Thr A2359T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TLR1 Ser602Ile S602I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5743618 5219 10756 0.485218 46 0 78 1 1 2 Y - - - - - - - - - - - - - Y - - - 5 Y 1 N - - TLR1 Pro315Leu P315L not reviewed Insufficiently evaluated not reviewed unknown Array rs5743613 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.085 - - 7 Y 0 N - - TLR1 His305Leu H305L not reviewed Insufficiently evaluated not reviewed unknown Array rs3923647 496 10756 0.0461138 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.318 - - 6 Y 1 N - - TLR1 Asn248Ser N248S not reviewed Insufficiently evaluated not reviewed unknown Array rs4833095 4670 10756 0.434176 41 0 62 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TLR1 Leu144Pro L144P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TLR1 Arg80Thr R80T not reviewed Insufficiently evaluated not reviewed unknown Array rs5743611 697 10758 0.064789 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - TLR1 Ser44Pro S44P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLR10 Ile775Val I775V not reviewed Insufficiently evaluated not reviewed unknown Array rs4129009 1372 10758 0.127533 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TLR10 Tyr430Stop Y430X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TLR10 Gly381Asp G381D not reviewed Insufficiently evaluated not reviewed unknown Array rs11466655 161 10758 0.0149656 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - TLR10 Ile369Leu I369L not reviewed Insufficiently evaluated not reviewed unknown Array rs11096955 4371 10758 0.406302 46 0 65 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TLR10 Met326Thr M326T not reviewed Insufficiently evaluated not reviewed unknown Array rs11466653 306 10758 0.0284439 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 2 N - - TLR10 Val298Ile V298I not reviewed Insufficiently evaluated not reviewed unknown Array rs11466651 357 10756 0.0331908 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - TLR10 Asn241His N241H not reviewed Insufficiently evaluated not reviewed unknown Array rs11096957 4370 10758 0.406209 46 0 65 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 0 N - - TLR10 Ala163Ser A163S not reviewed Insufficiently evaluated not reviewed unknown Array rs11466649 351 10754 0.032639 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TLR2 Pro631His P631H not reviewed Insufficiently evaluated not reviewed unknown Array rs5743704 326 10758 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 10 - - TLR2 Arg753Gln R753Q not reviewed Insufficiently evaluated not reviewed unknown Array 239 10758 0.022216 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TLR3 Leu412Phe L412F pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3775291 2294 10758 0.213237 15 0 18 3 3 - - 3 - 2 - - - - - - - - - - Y 0.991 - - 0 - 2 N - - TLR3 Arg643Ser R643S not reviewed Insufficiently evaluated not reviewed unknown Array rs73025939 100 10752 0.0093006 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TLR3 Pro880Gln P880Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TLR4 Asp181Tyr D181Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TLR4 Glu474Lys E474K not reviewed Insufficiently evaluated not reviewed unknown Array rs5030718 147 10758 0.0136642 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - TLR5 Phe822Leu F822L not reviewed Insufficiently evaluated not reviewed unknown Array rs7512943 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TLR5 Leu769Phe L769F not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 2 - 2 - - TLR5 Phe616Leu F616L not reviewed Insufficiently evaluated not reviewed unknown Array rs5744174 3591 10758 0.333798 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TLR5 Asn592Ser N592S not reviewed Insufficiently evaluated not reviewed unknown Array rs2072493 1234 10758 0.114705 17 0 16 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 2 N - - TLR5 Arg392Stop R392X pathogenic Low clinical importance, Uncertain pathogenic other Array rs5744168 473 10758 0.0439673 5 0 5 4 4 1 Y 1 - 1 Y - - 4 Y 4 Y - Y - - - - - 10 Y 4 N 0 0 This variant is believed to impair the ability to generate an immune response to the flagella of the bacteria. It is weakly associated with an increased incidence of Legionnaires' Disease, p = 0.085, increased lifetime risk of disease ~0.88% (about twice average). The variant is also weakly associated with a reduced incidence of systemic lupus erythematosus, p = 0.165. TLR5 Gln181Lys Q181K not reviewed Insufficiently evaluated not reviewed unknown Array rs45528236 469 10758 0.0435955 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TLR5 Asn143Thr N143T not reviewed Insufficiently evaluated not reviewed unknown Array rs5744167 297 10758 0.0276074 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - TLR6 Gly592Val G592V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - TLR6 Val465Ile V465I not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 7 - - TLR6 His345Tyr H345Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.355 - - -1 - 2 - 6 - - TLR6 Ser249Pro S249P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5743810 7479 10758 0.695204 53 0 95 2 2 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - same as "rs5743810" , TLR6 Arg247Lys R247K not reviewed Insufficiently evaluated not reviewed unknown Array rs35220466 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - TLR6 Ile120Thr I120T not reviewed Insufficiently evaluated not reviewed unknown Array rs5743808 309 10758 0.0287228 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLR7 Gln11Leu Q11L not reviewed Insufficiently evaluated not reviewed unknown Array rs179008 1584 8761 0.180801 11 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - TLR8 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs3764880 2226 8761 0.254081 29 0 49 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 1 N - - TLR8 Met10Val M10V not reviewed Insufficiently evaluated not reviewed unknown Array rs5744077 356 8760 0.0406393 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TLR8 Thr60Met T60M not reviewed Insufficiently evaluated not reviewed unknown Array rs57166818 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - TLR9 Arg5Cys R5C not reviewed Insufficiently evaluated not reviewed unknown Array rs5743842 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 9 - - TM2D2 Ile25Val I25V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TM2D3 Leu6Arg L6R not reviewed Insufficiently evaluated not reviewed unknown Array rs2939587 10503 10648 0.986382 29 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TM4SF1 Cys78Trp C78W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TM4SF19 Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TM4SF19 Gln8Pro Q8P not reviewed Insufficiently evaluated not reviewed unknown Array rs6785339 5831 10758 0.542015 46 0 68 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TM4SF20 Asn125Ser N125S not reviewed Insufficiently evaluated not reviewed unknown Array 444 10758 0.0412716 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TM4SF20 Tyr100Phe Y100F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -4 - 2 N - - TM4SF20 Leu89Phe L89F not reviewed Insufficiently evaluated not reviewed unknown Array 1192 10758 0.110801 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 0 N - - TM4SF20 Ala27Val A27V not reviewed Insufficiently evaluated not reviewed unknown Array rs7574414 1101 10758 0.102342 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - TM6SF1 Val38Gly V38G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TM6SF2 Glu167Lys E167K not reviewed Insufficiently evaluated not reviewed unknown Array rs58542926 587 10220 0.0574364 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TM7SF2 Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array rs11539360 244 10026 0.0243367 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - TM7SF2 Glu212Lys E212K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - TM7SF2 Thr299Ile T299I not reviewed Insufficiently evaluated not reviewed unknown Array rs1129195 4092 9932 0.412002 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TM7SF3 Pro248Leu P248L not reviewed Insufficiently evaluated not reviewed unknown Array rs10771314 793 10758 0.0737126 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.082 - - 7 Y 0 N - - TM7SF3 Pro179Arg P179R not reviewed Insufficiently evaluated not reviewed unknown Array rs34735713 309 10758 0.0287228 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 1 N - - TM7SF3 Gln68His Q68H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - -1 - 0 N - - TM7SF4 Leu72Met L72M not reviewed Insufficiently evaluated not reviewed unknown Array rs61682032 255 10758 0.0237033 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.158 - - -3 - 0 N - - TM7SF4 Glu192Gln E192Q not reviewed Insufficiently evaluated not reviewed unknown Array rs67114147 1230 10758 0.114334 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - TM7SF4 Asp349Gly D349G not reviewed Insufficiently evaluated not reviewed unknown Array rs3802204 1258 10758 0.116936 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TM9SF3 Trp473Cys W473C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TM9SF4 Ile508Val I508V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - -4 - 0 N - - TMBIM1 Gly68Ser G68S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10718 0.00261243 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 2 - 1 N - - TMBIM1 Pro43Leu P43L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10754 0.00204575 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMBIM1 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array rs2292553 4383 10754 0.407569 32 0 45 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - TMBIM4 Ile88Thr I88T not reviewed Insufficiently evaluated not reviewed unknown Array rs8793 3641 9536 0.381816 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMBIM6 Gln12Arg Q12R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMBIM6 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMBIM6 Pro169Leu P169L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMC1 Glu81Lys E81K not reviewed Insufficiently evaluated not reviewed unknown Array rs1796993 2175 10750 0.202326 18 0 21 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - TMC1 Met486Thr M486T not reviewed Insufficiently evaluated not reviewed unknown Array rs17058153 225 10758 0.0209147 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TMC2 Arg123Lys R123K not reviewed Insufficiently evaluated not reviewed unknown Array rs6050063 7066 10752 0.65718 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TMC2 Gln205Arg Q205R not reviewed Insufficiently evaluated not reviewed unknown Array rs11908093 1481 10758 0.137665 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMC2 Trp217Arg W217R not reviewed Insufficiently evaluated not reviewed unknown Array rs34884202 384 10758 0.0356944 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 3 - 2 - - TMC2 Glu816Gln E816Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6115242 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 2 - - TMC3 Asp1099Asn D1099N not reviewed Insufficiently evaluated not reviewed unknown Array rs4417518 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMC3 Arg1012Lys R1012K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMC3 Cys893Tyr C893Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11636318 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC3 Thr370Ile T370I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMC3 Gly214Ser G214S not reviewed Insufficiently evaluated not reviewed unknown Array 133 9818 0.0135465 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMC3 Gln49His Q49H not reviewed Insufficiently evaluated not reviewed unknown Array 482 9730 0.0495375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMC3 Gln24Arg Q24R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10570 0.00321665 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TMC4 Gln683Glu Q683E not reviewed Insufficiently evaluated not reviewed unknown Array rs36657 71 124 0.572581 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMC4 Gln689Glu Q689E not reviewed Insufficiently evaluated not reviewed unknown Array rs36657 5803 10758 0.539413 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMC4 Thr367Ile T367I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMC4 Thr373Ile T373I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMC4 Leu332Arg L332R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC4 Leu338Arg L338R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC4 His103Tyr H103Y not reviewed Insufficiently evaluated not reviewed unknown Array 1474 10758 0.137014 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMC4 His97Tyr H97Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11538074 21 128 0.164062 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMC4 Gly17Glu G17E not reviewed Insufficiently evaluated not reviewed unknown Array rs641738 4393 10758 0.408347 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMC5 Ser285Ile S285I not reviewed Insufficiently evaluated not reviewed unknown Array rs72785308 412 9862 0.0417765 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMC5 Ser328Asn S328N not reviewed Insufficiently evaluated not reviewed unknown Array rs16972013 101 10100 0.01 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - TMC5 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMC5 Ala355Thr A355T not reviewed Insufficiently evaluated not reviewed unknown Array rs36019638 473 10758 0.0439673 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - TMC5 Ala167Asp A167D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMC5 Ala413Asp A413D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737709 368 10758 0.0342071 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.059 - - 5 Y 0 N - - TMC5 Phe546Ile F546I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMC5 Phe792Ile F792I not reviewed Insufficiently evaluated not reviewed unknown Array rs74011408 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.635 - - 2 - 1 N - - TMC5 Ile591Phe I591F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMC5 Ile837Phe I837F not reviewed Insufficiently evaluated not reviewed unknown Array rs73542128 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.933 - - 2 - 2 N - - TMC6 Pro502Leu P502L not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMC6 Ser200Phe S200F not reviewed Insufficiently evaluated not reviewed unknown Array rs9895373 293 10636 0.0275479 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.054 - - 5 Y 0 N - - TMC6 Gly191Asp G191D not reviewed Insufficiently evaluated not reviewed unknown Array rs34712518 968 10632 0.0910459 11 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TMC6 Leu153Phe L153F not reviewed Insufficiently evaluated not reviewed unknown Array rs12449858 740 10730 0.0689655 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 1 N - - TMC6 Trp125Arg W125R not reviewed Insufficiently evaluated not reviewed unknown Array rs2748427 2881 10534 0.273495 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMC7 Ser15Thr S15T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMC7 Ser125Asn S125N not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - TMC7 Ser15Asn S15N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TMC7 Gly144Glu G144E not reviewed Insufficiently evaluated not reviewed unknown Array rs28583298 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC7 Gly254Glu G254E not reviewed Insufficiently evaluated not reviewed unknown Array rs28583298 5410 10758 0.502882 38 0 55 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - TMC7 Thr245Ser T245S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - TMC7 Thr355Ser T355S not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 1 - - TMC7 Gly327Asp G327D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMC7 Gly437Asp G437D not reviewed Insufficiently evaluated not reviewed unknown Array rs73528934 222 10758 0.0206358 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 1 - 1 - - TMC7 Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMC7 Pro589Leu P589L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - TMC7 Thr525Ile T525I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMC7 Thr635Ile T635I not reviewed Insufficiently evaluated not reviewed unknown Array rs11864159 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - TMC8 Asn306Ile N306I not reviewed Insufficiently evaluated not reviewed unknown Array rs7208422 5992 10758 0.556981 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMC8 Gly342Trp G342W not reviewed Insufficiently evaluated not reviewed unknown Array rs112802399 238 10758 0.0221231 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.243 - - 7 Y 1 N - - TMCC1 Phe324Leu F324L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCC1 Phe534Leu F534L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCC1 Phe648Leu F648L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCC1 Ser165Gly S165G not reviewed Insufficiently evaluated not reviewed unknown Array rs784689 10352 10758 0.962261 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMCC1 Ser51Gly S51G not reviewed Insufficiently evaluated not reviewed unknown Array rs784689 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMCC3 Cys180Tyr C180Y not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 6 Y 0 N - - TMCC3 Tyr16Asp Y16D not reviewed Insufficiently evaluated not reviewed unknown Array 6925 6978 0.992405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMCO3 Ala443Thr A443T not reviewed Insufficiently evaluated not reviewed unknown Array rs2260335 2141 10758 0.199015 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMCO3 Ala445Thr A445T not reviewed Insufficiently evaluated not reviewed unknown Array rs7319493 1800 10758 0.167317 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMCO4 Ala550Thr A550T not reviewed Insufficiently evaluated not reviewed unknown Array rs41312012 103 10758 0.00957427 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMCO4 Arg478His R478H not reviewed Insufficiently evaluated not reviewed unknown Array rs4370779 5475 10758 0.508924 33 0 33 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TMCO4 Asn364Ser N364S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - TMCO4 Ala132Gly A132G not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 1 N - - TMCO4 Gln72Lys Q72K not reviewed Insufficiently evaluated not reviewed unknown Array rs10917536 3942 10758 0.366425 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMCO5A Ala140Glu A140E not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - TMCO5A Cys141Arg C141R not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMCO5A Val194Met V194M not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCO5A Gly210Asp G210D not reviewed Insufficiently evaluated not reviewed unknown Array 195 10752 0.0181362 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMCO6 Thr299Ser T299S not reviewed Insufficiently evaluated not reviewed unknown Array rs17208187 1904 10014 0.190134 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - TMCO6 Ala341Gly A341G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - 1 - 1 N - - TMED1 Ala198Val A198V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMED5 Thr175Ile T175I not reviewed Insufficiently evaluated not reviewed unknown Array rs1060622 5015 10758 0.466165 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.722 - - 3 - 0 N - - TMED5 Thr146Lys T146K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 3 - 0 N - - TMED6 Met188Thr M188T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMED6 Asn156Thr N156T not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TMED6 Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array 302 10758 0.0280721 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - TMED8 Pro15His P15H not reviewed Insufficiently evaluated not reviewed unknown Array rs10141317 939 3802 0.246975 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - TMED8 Gln5Lys Q5K not reviewed Insufficiently evaluated not reviewed unknown Array rs3742737 1069 4236 0.252361 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - TMED9 Thr16Ser T16S not reviewed Insufficiently evaluated not reviewed unknown Array rs57960711 440 10712 0.0410754 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEFF2 His148Tyr H148Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61744272 226 10758 0.0210076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 2 N - - TMEM104 Ser45Arg S45R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - TMEM104 Val58Met V58M not reviewed Insufficiently evaluated not reviewed unknown Array rs2016126 6911 10758 0.642406 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM104 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TMEM105 Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array rs9916085 1335 10756 0.124117 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMEM105 Arg82Gln R82Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM105 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56712292 82 10708 0.00765783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM106B Thr185Ser T185S not reviewed Insufficiently evaluated not reviewed unknown Array rs3173615 5348 10754 0.497303 46 0 68 0 0 - - - - - - - - - - - - - - - - 0.418 - - -2 - 0 N - - TMEM106C Ser13Phe S13F not reviewed Insufficiently evaluated not reviewed unknown Array rs34116679 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - TMEM106C Val103Phe V103F not reviewed Insufficiently evaluated not reviewed unknown Array rs35000511 542 10758 0.0503811 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEM106C Ser175Phe S175F not reviewed Insufficiently evaluated not reviewed unknown Array rs2286025 780 10758 0.0725042 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.871 - - 5 Y 1 N - - TMEM108 Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array rs34111099 575 10758 0.0534486 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 3 - - TMEM109 Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array 228 10722 0.0212647 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - TMEM110 Glu256Lys E256K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - TMEM116 Cys22Gly C22G not reviewed Insufficiently evaluated not reviewed unknown Array rs3752630 2183 10758 0.202919 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMEM119 Cys276Gly C276G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.228 - - 7 Y 1 N - - TMEM119 Ile72Thr I72T not reviewed Insufficiently evaluated not reviewed unknown Array rs7975237 5865 10756 0.545277 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEM119 Leu62Phe L62F not reviewed Insufficiently evaluated not reviewed unknown Array 215 10754 0.0199926 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM119 Ser48Leu S48L not reviewed Insufficiently evaluated not reviewed unknown Array rs73404789 223 10716 0.02081 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - TMEM120B Asp92Asn D92N not reviewed Insufficiently evaluated not reviewed unknown Array rs28655666 4652 10332 0.450252 32 0 40 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TMEM123 Val86Phe V86F not reviewed Insufficiently evaluated not reviewed unknown Array rs11547915 496 10156 0.0488381 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.275 - - 3 - 2 - 2 - - TMEM123 Val71Met V71M not reviewed Insufficiently evaluated not reviewed unknown Array rs2155587 737 10084 0.0730861 10 0 9 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - TMEM126B Ala168Val A168V not reviewed Insufficiently evaluated not reviewed unknown Array rs17850847 189 10758 0.0175683 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - TMEM128 His53Arg H53R not reviewed Insufficiently evaluated not reviewed unknown Array rs13135886 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM129 Ala89Ser A89S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM131 Asp1359Asn D1359N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10440 0.000574712 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM131 Pro1316Leu P1316L not reviewed Insufficiently evaluated not reviewed unknown Array rs12995673 2879 10412 0.276508 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMEM132A Arg614His R614H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TMEM132A Arg615His R615H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM132A Arg699His R699H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - TMEM132A Arg700His R700H not reviewed Insufficiently evaluated not reviewed unknown Array rs524523 945 10754 0.0878743 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - TMEM132A Glu824Lys E824K not reviewed Insufficiently evaluated not reviewed unknown Array rs55920775 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - TMEM132A Glu825Lys E825K not reviewed Insufficiently evaluated not reviewed unknown Array rs55920775 1824 10758 0.169548 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM132A Val859Met V859M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - TMEM132A Val860Met V860M not reviewed Insufficiently evaluated not reviewed unknown Array rs61755079 428 10758 0.0397843 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM132A Ala969Val A969V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - TMEM132A Ala970Val A970V not reviewed Insufficiently evaluated not reviewed unknown Array rs2469887 4768 10756 0.443287 44 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMEM132B Ala658Val A658V not reviewed Insufficiently evaluated not reviewed unknown Array rs16919359 3088 10440 0.295785 35 0 41 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TMEM132B Arg834His R834H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753625 189 10014 0.0188736 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM132B Leu913Met L913M not reviewed Insufficiently evaluated not reviewed unknown Array 63 10232 0.00615715 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -3 - 1 N - - TMEM132C His49Arg H49R not reviewed Insufficiently evaluated not reviewed unknown Array rs11059681 1470 3234 0.454545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM132C Val160Ile V160I not reviewed Insufficiently evaluated not reviewed unknown Array rs1683723 1386 3234 0.428571 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMEM132C Ile211Val I211V not reviewed Insufficiently evaluated not reviewed unknown Array 9 3226 0.00278983 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM132C Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array rs4272850 944 3234 0.291899 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMEM132C Thr618Ser T618S not reviewed Insufficiently evaluated not reviewed unknown Array rs12426596 46 3234 0.0142239 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - TMEM132C Gly698Arg G698R not reviewed Insufficiently evaluated not reviewed unknown Array rs12424159 1610 3234 0.497835 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMEM132D Leu878Phe L878F not reviewed Insufficiently evaluated not reviewed unknown Array rs555131 693 10758 0.0644172 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM132D Val767Ile V767I not reviewed Insufficiently evaluated not reviewed unknown Array rs73159540 847 10758 0.0787321 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.051 - - -4 - 0 N - - TMEM132D Leu90Gln L90Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM132E Val386Ile V386I not reviewed Insufficiently evaluated not reviewed unknown Array rs56879769 579 10758 0.0538204 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - TMEM132E Ser555Arg S555R not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TMEM132E Asp658Asn D658N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - TMEM133 His4Arg H4R not reviewed Insufficiently evaluated not reviewed unknown Array rs73578094 2 10756 0.000185942 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM133 Phe53Leu F53L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.171 - - 0 - 0 N - - TMEM133 Asn94His N94H not reviewed Insufficiently evaluated not reviewed unknown Array rs61995873 378 10758 0.0351366 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM134 Ser90Ile S90I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 2 N - - TMEM134 Ser99Ile S99I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.192 - - 5 Y 0 N - - TMEM134 Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10714 0.00102669 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - TMEM135 Gly218Arg G218R not reviewed Insufficiently evaluated not reviewed unknown Array rs2276102 7132 10758 0.662948 49 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMEM135 Gly430Ala G430A not reviewed Insufficiently evaluated not reviewed unknown Array rs11235097 253 10758 0.0235174 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TMEM139 Ser155Asn S155N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - TMEM140 Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array rs292500 309 10758 0.0287228 5 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM140 Arg7Gln R7Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3800592 5212 10758 0.484477 37 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM140 Phe29Leu F29L not reviewed Insufficiently evaluated not reviewed unknown Array rs292501 9924 10758 0.922476 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM140 Ile166Thr I166T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM143 Tyr234Stop Y234X not reviewed Insufficiently evaluated not reviewed unknown Array rs16982007 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - TMEM143 Gly222Val G222V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - 8 Y 2 - 1 - - TMEM143 Pro159Arg P159R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TMEM144 Lys146Arg K146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - TMEM144 Asp157Gly D157G not reviewed Insufficiently evaluated not reviewed unknown Array rs34277853 84 10754 0.00781105 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.886 - - 4 Y 2 N - - TMEM144 Ile239Phe I239F not reviewed Insufficiently evaluated not reviewed unknown Array rs62335898 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - TMEM146 Ala9Gly A9G not reviewed Insufficiently evaluated not reviewed unknown Array 93 10664 0.00872093 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.912 - - 1 - 2 N - - TMEM146 Arg53Cys R53C not reviewed Insufficiently evaluated not reviewed unknown Array 176 9464 0.0185968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.942 - - 8 Y 2 N - - TMEM146 Val95Ala V95A not reviewed Insufficiently evaluated not reviewed unknown Array rs73544757 331 9704 0.0341096 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.151 - - 2 - 0 N - - TMEM146 Met212Thr M212T not reviewed Insufficiently evaluated not reviewed unknown Array rs57680462 405 9586 0.0422491 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.713 - - 2 - 1 N - - TMEM146 Val276Ile V276I not reviewed Insufficiently evaluated not reviewed unknown Array 29 9988 0.00290348 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - TMEM146 Ile322Val I322V not reviewed Insufficiently evaluated not reviewed unknown Array rs72983139 561 9662 0.0580625 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TMEM146 Gln555Glu Q555E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - -2 - 0 N - - TMEM146 Ser621Leu S621L not reviewed Insufficiently evaluated not reviewed unknown Array rs78536254 246 10098 0.0243613 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 1 N - - TMEM146 Gly639Arg G639R not reviewed Insufficiently evaluated not reviewed unknown Array rs61180947 1649 9738 0.169337 21 0 26 0 0 - - - - - - - - - - - - - - - - 0.761 - - 6 Y 0 N - - TMEM146 Thr743Ser T743S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305925 1853 10310 0.179728 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TMEM147 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TMEM149 Gln334His Q334H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM149 Trp189Arg W189R not reviewed Insufficiently evaluated not reviewed unknown Array rs34562867 977 10758 0.0908161 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMEM149 Ile182Leu I182L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - TMEM14B Arg108Cys R108C not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 8 Y 0 N - - TMEM14B Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM14E Leu82Pro L82P not reviewed Insufficiently evaluated not reviewed unknown Array rs13077912 988 7820 0.126343 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 1 N - - TMEM155 Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array rs4370153 9391 10758 0.872932 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMEM156 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array 409 10758 0.0380182 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.6 - - -4 - 1 N - - TMEM156 Met212Thr M212T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 2 - - TMEM156 Ser105Pro S105P not reviewed Insufficiently evaluated not reviewed unknown Array rs11542133 2452 10756 0.227966 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEM156 Tyr48Cys Y48C not reviewed Insufficiently evaluated not reviewed unknown Array rs35576563 221 10758 0.0205429 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TMEM158 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM158 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM159 Phe97Leu F97L not reviewed Insufficiently evaluated not reviewed unknown Array rs35345508 241 10758 0.0224019 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TMEM159 Gly107Ser G107S not reviewed Insufficiently evaluated not reviewed unknown Array rs1046480 1990 10758 0.184979 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMEM159 Glu154Asp E154D not reviewed Insufficiently evaluated not reviewed unknown Array rs1063087 8653 10758 0.804332 54 0 100 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMEM160 Gly120Ser G120S not reviewed Insufficiently evaluated not reviewed unknown Array rs11083857 1087 8454 0.128578 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 - 2 - - TMEM161A Ile455Val I455V not reviewed Insufficiently evaluated not reviewed unknown Array rs45467802 524 10700 0.048972 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.239 - - -4 - 1 N - - TMEM161A Ser313Phe S313F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10728 9.3214e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 5 Y 1 N - - TMEM167A Ile62Arg I62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - 7 Y 0 N - - TMEM168 Gly659Ser G659S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - TMEM168 Thr18Ser T18S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - TMEM169 Val211Ile V211I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM17 Gly26Ser G26S not reviewed Insufficiently evaluated not reviewed unknown Array rs17854454 1436 10758 0.133482 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 0 N - - TMEM17 Ser22Thr S22T not reviewed Insufficiently evaluated not reviewed unknown Array 970 10758 0.0901655 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TMEM171 Phe23Leu F23L not reviewed Insufficiently evaluated not reviewed unknown Array rs638333 2413 10758 0.224298 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - TMEM171 Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array rs637450 3579 10758 0.332683 33 0 40 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 1 N - - TMEM171 Asn139Lys N139K not reviewed Insufficiently evaluated not reviewed unknown Array rs636926 3709 10758 0.344767 34 0 41 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - TMEM171 Asp273Glu D273E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM171 Asp274Glu D274E not reviewed Insufficiently evaluated not reviewed unknown Array rs61746311 571 10758 0.0530768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TMEM173 Arg293Gln R293Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7380824 1982 10758 0.184235 25 0 28 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - TMEM173 His232Arg H232R not reviewed Insufficiently evaluated not reviewed unknown Array rs1131769 9385 10758 0.872374 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM173 Gly230Ala G230A not reviewed Insufficiently evaluated not reviewed unknown Array rs78233829 1889 10758 0.17559 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM173 Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array rs11554776 1130 10758 0.105038 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.732 - - 1 - 0 N - - TMEM174 Ser159Thr S159T not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM175 Gln65Pro Q65P not reviewed Insufficiently evaluated not reviewed unknown Array rs34884217 843 10758 0.0783603 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TMEM175 Asp135Asn D135N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TMEM175 Met341Thr M341T not reviewed Insufficiently evaluated not reviewed unknown Array 192 10756 0.0178505 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - TMEM175 Met393Thr M393T not reviewed Insufficiently evaluated not reviewed unknown Array rs34311866 1476 10740 0.13743 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 0 N - - TMEM176A Thr122Ala T122A not reviewed Insufficiently evaluated not reviewed unknown Array rs741064 9167 10758 0.85211 48 0 87 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM176A Ser156Leu S156L not reviewed Insufficiently evaluated not reviewed unknown Array 238 10758 0.0221231 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.88 - - 6 Y 2 N - - TMEM176A Leu187Phe L187F not reviewed Insufficiently evaluated not reviewed unknown Array rs10378 1784 10758 0.16583 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.95 - - 0 - 1 N - - TMEM176A Thr208Ala T208A not reviewed Insufficiently evaluated not reviewed unknown Array rs9088 7506 10758 0.697713 50 0 79 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TMEM176B Pro119Ala P119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM176B Pro156Ala P156A not reviewed Insufficiently evaluated not reviewed unknown Array rs60909345 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM176B Ala134Thr A134T not reviewed Insufficiently evaluated not reviewed unknown Array rs2072443 4127 10758 0.383621 30 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM176B Ala97Thr A97T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM176B Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array rs73480478 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM176B Ala71Thr A71T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM176B Ser94Arg S94R not reviewed Insufficiently evaluated not reviewed unknown Array rs3173833 6015 10758 0.559119 43 0 55 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEM176B Thr70Ala T70A not reviewed Insufficiently evaluated not reviewed unknown Array rs28434777 233 10756 0.0216623 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM176B Pro55Ser P55S not reviewed Insufficiently evaluated not reviewed unknown Array rs11546671 337 10758 0.0313255 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM177 Gly29Ala G29A not reviewed Insufficiently evaluated not reviewed unknown Array rs11684353 1705 10758 0.158487 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - TMEM177 Ile32Val I32V not reviewed Insufficiently evaluated not reviewed unknown Array rs13011768 8309 10758 0.772355 52 0 82 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMEM177 Asp267Glu D267E not reviewed Insufficiently evaluated not reviewed unknown Array rs1983406 8303 10758 0.771798 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMEM182 Trp223Arg W223R not reviewed Insufficiently evaluated not reviewed unknown Array rs887987 10501 10758 0.976111 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMEM183A Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM183B Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs6678040 1089 10756 0.101246 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM184A Ser390Gly S390G not reviewed Insufficiently evaluated not reviewed unknown Array rs3779607 5613 10492 0.534979 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMEM184A Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array rs17852421 2126 10242 0.207577 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMEM187 Ser70Leu S70L not reviewed Insufficiently evaluated not reviewed unknown Array rs2266890 1339 8752 0.152994 18 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMEM187 Met78Val M78V not reviewed Insufficiently evaluated not reviewed unknown Array rs7350355 2796 8750 0.319543 24 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM189 Asn6Asp N6D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM189 Asn6Tyr N6Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM189-UBE2V1 Asn6Asp N6D not reviewed Insufficiently evaluated not reviewed unknown Array rs232733 88 88 1 35 0 70 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMEM189-UBE2V1 Asn6Tyr N6Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM19 Thr288Ser T288S not reviewed Insufficiently evaluated not reviewed unknown Array rs74104122 283 10758 0.026306 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.675 - - -2 - 1 N - - TMEM194B Gly2Arg G2R not reviewed Insufficiently evaluated not reviewed unknown Array 286 2504 0.114217 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMEM195 Leu395Val L395V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM195 Ser280Tyr S280Y not reviewed Insufficiently evaluated not reviewed unknown Array rs59160822 383 10758 0.0356014 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM195 Phe279Leu F279L not reviewed Insufficiently evaluated not reviewed unknown Array rs58564185 924 10758 0.0858896 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM195 Gln8Glu Q8E not reviewed Insufficiently evaluated not reviewed unknown Array rs61751892 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TMEM198 Arg254His R254H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TMEM199 Val122Ile V122I not reviewed Insufficiently evaluated not reviewed unknown Array rs11538927 98 10758 0.0091095 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.138 - - -4 - 0 N - - TMEM199 Val158Ile V158I not reviewed Insufficiently evaluated not reviewed unknown Array rs12572 291 10758 0.0270496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - TMEM199 Leu166Val L166V not reviewed Insufficiently evaluated not reviewed unknown Array rs36106147 297 10758 0.0276074 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 2 - - TMEM2 Gly1217Asp G1217D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM2 Gly1280Asp G1280D not reviewed Insufficiently evaluated not reviewed unknown Array rs17475375 240 10758 0.022309 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - TMEM2 Ser1191Asn S1191N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM2 Ser1254Asn S1254N not reviewed Insufficiently evaluated not reviewed unknown Array rs2297089 899 10758 0.0835657 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - TMEM2 Ile1010Val I1010V not reviewed Insufficiently evaluated not reviewed unknown Array rs17057133 369 10758 0.0343001 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.038 - - -4 - 0 N - - TMEM2 Ile947Val I947V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM2 Pro702Ser P702S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM2 Pro765Ser P765S not reviewed Insufficiently evaluated not reviewed unknown Array rs25692 1276 10758 0.118609 8 0 7 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 0 N - - TMEM2 Asp423Glu D423E not reviewed Insufficiently evaluated not reviewed unknown Array rs25695 737 10758 0.0685072 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.73 - - -2 - 0 N - - TMEM2 Asp414Glu D414E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.208 - - -2 - 1 N - - TMEM2 Arg291His R291H not reviewed Insufficiently evaluated not reviewed unknown Array rs25689 2767 10758 0.257204 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM2 Arg245Lys R245K not reviewed Insufficiently evaluated not reviewed unknown Array rs25688 698 10758 0.064882 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - TMEM20 Pro113His P113H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM20 Pro114His P114H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TMEM201 Pro555Leu P555L not reviewed Insufficiently evaluated not reviewed unknown Array rs4926472 2449 3234 0.757267 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TMEM201 Arg612Cys R612C not reviewed Insufficiently evaluated not reviewed unknown Array 49 3234 0.0151515 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - TMEM202 Met204Leu M204L not reviewed Insufficiently evaluated not reviewed unknown Array rs16956904 286 10758 0.0265849 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.07 - - -3 - 0 N - - TMEM204 Gly57Ala G57A not reviewed Insufficiently evaluated not reviewed unknown Array rs1057612 947 10078 0.0939671 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 0 N - - TMEM207 Leu57Val L57V not reviewed Insufficiently evaluated not reviewed unknown Array rs35161724 1304 10758 0.121212 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 0 N - - TMEM209 Leu380Val L380V not reviewed Insufficiently evaluated not reviewed unknown Array 7 9560 0.000732217 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TMEM209 Thr182Ile T182I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10004 0.00059976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - TMEM211 Ala20Asp A20D not reviewed Insufficiently evaluated not reviewed unknown Array rs7292477 295 10758 0.0274215 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM213 Ser36Thr S36T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729750 6583 9974 0.660016 46 0 72 0 0 - - - - - - - - - - - - - - - - 0.195 - - -2 - 0 N - - TMEM214 Val306Met V306M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM214 Val351Met V351M not reviewed Insufficiently evaluated not reviewed unknown Array rs1124649 3373 9986 0.337773 25 0 30 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 1 N - - TMEM214 Ser642Pro S642P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM214 Ser687Pro S687P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - TMEM216 Arg86Thr R86T not reviewed Insufficiently evaluated not reviewed unknown Array rs10897158 7036 9946 0.70742 43 0 74 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEM217 Pro213Gln P213Q not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM22 Lys400Arg K400R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052618 7225 10758 0.671593 49 0 69 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TMEM220 Arg84His R84H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM223 Gly56Ser G56S not reviewed Insufficiently evaluated not reviewed unknown Array rs2956139 173 9820 0.0176171 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - TMEM223 Thr28Ala T28A not reviewed Insufficiently evaluated not reviewed unknown Array rs2584918 931 9960 0.0934739 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TMEM224 Leu199Phe L199F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM225 Cys196Arg C196R not reviewed Insufficiently evaluated not reviewed unknown Array rs1939927 9805 10758 0.911415 53 0 104 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TMEM225 Glu189Lys E189K not reviewed Insufficiently evaluated not reviewed unknown Array rs35551906 616 10756 0.0572704 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 0 N - - TMEM225 Asn134Ser N134S not reviewed Insufficiently evaluated not reviewed unknown Array rs10893099 10753 10758 0.999535 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM25 Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - 1 - 1 N - - TMEM25 Ala49Thr A49T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - TMEM25 Ala153Val A153V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - TMEM25 Ala49Val A49V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - TMEM25 Asn134Lys N134K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM25 Asn238Lys N238K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM25 Asn282Lys N282K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 2 N - - TMEM25 Gln194Arg Q194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM25 Gln297Arg Q297R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM25 Gln298Arg Q298R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM25 Gln342Arg Q342R not reviewed Insufficiently evaluated not reviewed unknown Array rs12289253 1797 10752 0.167132 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM30B Asp249Glu D249E not reviewed Insufficiently evaluated not reviewed unknown Array rs28731324 391 10746 0.0363856 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 3 - 1 - - TMEM31 Arg53Leu R53L not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM37 Ile71Met I71M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM38A Leu199Pro L199P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 3 - 1 - - TMEM38B Thr15Pro T15P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 4 Y 1 N - - TMEM38B Cys254Ser C254S not reviewed Insufficiently evaluated not reviewed unknown Array rs35232724 503 10758 0.0467559 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - TMEM39A Ala487Thr A487T not reviewed Insufficiently evaluated not reviewed unknown Array rs1132200 1251 10756 0.116307 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - TMEM39B Asn190Thr N190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.476 - - 1 - 1 N - - TMEM39B Lys417Arg K417R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.15 - - -3 - 0 N - - TMEM41B Ile266Val I266V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM43 Met41Val M41V pathogenic Insufficiently evaluated pathogenic undefined Array 1 10758 9.2954e-05 0 0 0 0 0 ! Y - - 0 Y - - 4 Y 3 Y Y - - - 0.001 Y Y 0 - 2 N - - This variant was seen in an unpublished instance of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Zygosity is not reported and controls were not assayed. TMEM43 Lys168Asn K168N not reviewed Insufficiently evaluated not reviewed unknown Array rs4685076 3087 10758 0.286949 28 0 30 0 0 1 Y - - - - - - - - - - Y - - - 0.064 Y Y 1 - 2 N - - TMEM43 Met179Thr M179T not reviewed Insufficiently evaluated not reviewed unknown Array rs2340917 3600 10758 0.334635 33 0 42 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TMEM43 Ala366Thr A366T not reviewed Insufficiently evaluated not reviewed unknown Array rs36083134 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.108 Y Y 1 - 2 N - - TMEM44 Gln237Arg Q237R not reviewed Insufficiently evaluated not reviewed unknown Array rs922282 9132 10462 0.872873 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM44 Pro211Leu P211L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM44 His24Asn H24N not reviewed Insufficiently evaluated not reviewed unknown Array rs1675955 4388 10060 0.436183 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 1 N - - TMEM45A Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - TMEM45B Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -3 - 2 N - - TMEM45B Thr59Ile T59I not reviewed Insufficiently evaluated not reviewed unknown Array rs558813 2877 10758 0.267429 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEM45B His135Pro H135P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TMEM5 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs61935924 807 10758 0.0750139 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - TMEM52 Met141Thr M141T not reviewed Insufficiently evaluated not reviewed unknown Array rs28640257 4006 10758 0.372374 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - TMEM52 Met141Val M141V not reviewed Insufficiently evaluated not reviewed unknown Array rs4459050 1502 10758 0.139617 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - TMEM55A Gly212Val G212V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - TMEM55B Val224Ala V224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TMEM55B Val231Ala V231A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM61 Glu40Lys E40K not reviewed Insufficiently evaluated not reviewed unknown Array rs3737832 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - TMEM63A Pro751Leu P751L not reviewed Insufficiently evaluated not reviewed unknown Array rs58852301 445 10750 0.0413953 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM63A Val622Met V622M not reviewed Insufficiently evaluated not reviewed unknown Array rs1009668 781 10758 0.0725971 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM63A Leu206Phe L206F not reviewed Insufficiently evaluated not reviewed unknown Array rs45492299 1345 10758 0.125023 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TMEM63B Val307Met V307M not reviewed Insufficiently evaluated not reviewed unknown Array rs4714759 844 10758 0.0784532 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMEM63B His367Gln H367Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - TMEM63B Gly704Arg G704R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TMEM64 Asn303Ser N303S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM64 Asn355Ser N355S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM66 Arg51Leu R51L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 6 Y 1 N - - TMEM66 Asp50Glu D50E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - TMEM67 Pro36Leu P36L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TMEM67 Cys42Tyr C42Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TMEM67 Ile523Val I523V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TMEM67 Ile604Val I604V not reviewed Insufficiently evaluated not reviewed unknown Array rs3134031 6858 10754 0.637716 41 0 63 2 2 3 Y 2 - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - Variants in this gene are associated with ciliopathy disease and related polycystic liver and kidney disease. TMEM70 Ala34Pro A34P not reviewed Insufficiently evaluated not reviewed unknown Array rs8075 1835 10682 0.171784 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 0 N - - TMEM70 Val194Met V194M not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - TMEM70 Thr250Ala T250A not reviewed Insufficiently evaluated not reviewed unknown Array rs1053079 2405 10746 0.223804 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM70 Asp259Glu D259E not reviewed Insufficiently evaluated not reviewed unknown Array rs1053077 2353 10700 0.219907 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TMEM71 Glu125Asp E125D not reviewed Insufficiently evaluated not reviewed unknown Array rs73343494 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM71 Glu144Asp E144D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - TMEM71 Tyr73Asp Y73D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMEM71 Tyr72Stop Y72X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TMEM71 Tyr72Phe Y72F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 2 N - - TMEM71 Tyr72Asn Y72N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TMEM72 Asp214Asn D214N not reviewed Insufficiently evaluated not reviewed unknown Array rs73279307 143 7820 0.0182864 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.407 - - -1 - 1 N - - TMEM77 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM79 Ser104Thr S104T not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM79 Val147Met V147M not reviewed Insufficiently evaluated not reviewed unknown Array rs6684514 2531 10758 0.235267 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - TMEM8 Arg567Trp R567W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM8 Ala563Val A563V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM8 Pro355Arg P355R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM8 Ile310Val I310V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM8 Thr136Ala T136A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM81 Ala225Val A225V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM81 Phe100Ser F100S not reviewed Insufficiently evaluated not reviewed unknown Array rs16855059 1103 10758 0.102528 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 - 3 - - TMEM81 Arg77Gln R77Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4951168 8307 10758 0.77217 48 0 77 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMEM82 Arg149Cys R149C not reviewed Insufficiently evaluated not reviewed unknown Array 103 10582 0.00973351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - TMEM82 Arg185Cys R185C not reviewed Insufficiently evaluated not reviewed unknown Array rs7511651 1309 10626 0.123188 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TMEM82 Ser231Leu S231L not reviewed Insufficiently evaluated not reviewed unknown Array 63 10748 0.00586156 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - TMEM82 Thr307Asn T307N not reviewed Insufficiently evaluated not reviewed unknown Array rs55947911 352 10758 0.0327198 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM86A Val215Ala V215A not reviewed Insufficiently evaluated not reviewed unknown Array rs7945285 452 10758 0.0420152 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM86B His199Arg H199R not reviewed Insufficiently evaluated not reviewed unknown Array rs4644955 9983 10732 0.930209 54 0 106 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TMEM86B Leu109His L109H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - TMEM88 Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array rs2270518 32 10752 0.00297619 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - TMEM88B Gly13Arg G13R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM88B Pro45Leu P45L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM88B Pro93Arg P93R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM89 Ile81Met I81M not reviewed Insufficiently evaluated not reviewed unknown Array rs60356053 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - TMEM89 Pro61Thr P61T not reviewed Insufficiently evaluated not reviewed unknown Array rs9834639 25 128 0.195312 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TMEM89 Ser24Leu S24L not reviewed Insufficiently evaluated not reviewed unknown Array rs73830466 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - TMEM90A Tyr182Ser Y182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - TMEM90A Ser31Arg S31R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734850 1035 9872 0.104842 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - TMEM91 Ile38Thr I38T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM92 Thr12Pro T12P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.368 - - 4 Y 1 N - - TMEM92 Ser90Asn S90N not reviewed Insufficiently evaluated not reviewed unknown Array rs6504642 19 128 0.148438 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TMEM92 Ser90Thr S90T not reviewed Insufficiently evaluated not reviewed unknown Array rs6504642 6374 10758 0.592489 35 0 52 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TMEM93 Ala35Gly A35G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - TMEM95 Ser175Phe S175F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM99 Tyr79His Y79H not reviewed Insufficiently evaluated not reviewed unknown Array rs10558 2383 9788 0.243461 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - TMEM99 Leu95Arg L95R not reviewed Insufficiently evaluated not reviewed unknown Array rs1044806 1672 9890 0.16906 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 0 N - - TMF1 Asp798His D798H not reviewed Insufficiently evaluated not reviewed unknown Array rs1532918 1060 9504 0.111532 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMF1 Thr768Arg T768R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMIE Lys123Asn K123N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TMIE Lys131Glu K131E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TMIGD1 Gln57Glu Q57E not reviewed Insufficiently evaluated not reviewed unknown Array rs73275763 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - TMIGD2 Ala202Pro A202P not reviewed Insufficiently evaluated not reviewed unknown Array rs28477168 1600 10758 0.148727 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 0 N - - TMIGD2 Trp168Leu W168L not reviewed Insufficiently evaluated not reviewed unknown Array rs58237134 2113 10758 0.196412 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - TMIGD2 Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array rs78320454 1218 10758 0.113218 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - TMIGD2 Ser24Asn S24N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.346 - - 0 - 1 N - - TMPO Arg332Gly R332G not reviewed Insufficiently evaluated not reviewed unknown Array rs57670957 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - TMPO Lys416Glu K416E not reviewed Insufficiently evaluated not reviewed unknown Array rs11838270 248 10758 0.0230526 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPO Gln599Glu Q599E not reviewed Insufficiently evaluated not reviewed unknown Array rs17459334 760 10758 0.0706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.878 - - -2 - 2 - 6 - - TMPO Leu318Phe L318F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TMPO Leu427Phe L427F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TMPRSS11A Gln290Arg Q290R not reviewed Insufficiently evaluated not reviewed unknown Array rs353163 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS11A Gln293Arg Q293R not reviewed Insufficiently evaluated not reviewed unknown Array rs353163 7903 10758 0.734616 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS11A Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs977728 1672 10758 0.155419 19 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMPRSS11B Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array rs2319797 7408 10758 0.688604 47 0 76 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMPRSS11B Asp325Ala D325A not reviewed Insufficiently evaluated not reviewed unknown Array rs2319796 10708 10756 0.995537 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TMPRSS11B Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array rs12331141 7403 10758 0.688139 47 0 76 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMPRSS11B Gly206Ser G206S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMPRSS11B Met156Lys M156K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMPRSS11E Tyr303Cys Y303C not reviewed Insufficiently evaluated not reviewed unknown Array rs976002 2415 10758 0.224484 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMPRSS11E2 Tyr303Cys Y303C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMPRSS11F Asp365His D365H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - TMPRSS11F Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs10030708 3313 10758 0.307957 27 0 29 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TMPRSS12 Tyr19His Y19H not reviewed Insufficiently evaluated not reviewed unknown Array rs10876100 2516 10014 0.251248 26 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMPRSS12 Ser24Trp S24W not reviewed Insufficiently evaluated not reviewed unknown Array 18 9986 0.00180252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMPRSS12 Glu62Lys E62K not reviewed Insufficiently evaluated not reviewed unknown Array rs829121 9464 9760 0.969672 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS12 Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array rs861204 2841 10220 0.277984 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMPRSS13 Gln83Arg Q83R not reviewed Insufficiently evaluated not reviewed unknown Array 943 9872 0.0955227 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS13 Gln78Arg Q78R not reviewed Insufficiently evaluated not reviewed unknown Array 586 9826 0.0596377 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS13 Ala77Gly A77G not reviewed Insufficiently evaluated not reviewed unknown Array 482 9782 0.0492742 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPRSS2 Val160Met V160M not reviewed Insufficiently evaluated not reviewed unknown Array rs12329760 31 126 0.246032 26 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS2 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array rs12329760 2562 10758 0.238148 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS2 Gly8Val G8V not reviewed Insufficiently evaluated not reviewed unknown Array rs75603675 682 2158 0.316033 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TMPRSS3 Ile253Val I253V not reviewed Insufficiently evaluated not reviewed unknown Array rs2839500 1763 10758 0.163878 20 0 25 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 1 - - TMPRSS3 Gly111Ser G111S not reviewed Insufficiently evaluated not reviewed unknown Array rs35227181 1427 10758 0.132645 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - TMPRSS3 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 2 - 1 - - TMPRSS3 Val53Ile V53I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs928302 875 10758 0.0813348 13 0 14 1 1 - - - - - - - - - - - - Y - - Y 0.36 Y - -4 - 3 N 1 - - TMPRSS4 Arg172Gln R172Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS4 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1894176 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMPRSS4 Lys193Glu K193E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS4 Lys198Glu K198E not reviewed Insufficiently evaluated not reviewed unknown Array rs12270001 16 128 0.125 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS4 Val203Gly V203G not reviewed Insufficiently evaluated not reviewed unknown Array rs1941635 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMPRSS4 Val208Gly V208G not reviewed Insufficiently evaluated not reviewed unknown Array rs1941635 125 126 0.992063 52 0 101 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TMPRSS4 Arg254Trp R254W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMPRSS4 Arg259Trp R259W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TMPRSS4 Pro408Leu P408L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMPRSS4 Pro413Leu P413L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 3 - 1 - - TMPRSS5 Phe369Leu F369L not reviewed Insufficiently evaluated not reviewed unknown Array rs7110736 7712 10456 0.737567 48 0 86 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS6 Val736Ala V736A not reviewed Insufficiently evaluated not reviewed unknown Array rs855791 7093 10758 0.659323 46 0 73 0 0 - - - - - - - - - - - - Y - Y - - - - 2 - 2 N 10 - - TMPRSS6 Lys253Glu K253E not reviewed Insufficiently evaluated not reviewed unknown Array rs2235324 4262 10754 0.396318 25 0 30 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 0 N - - TMPRSS7 Thr280Ile T280I not reviewed Insufficiently evaluated not reviewed unknown Array 17 9548 0.00178048 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMPRSS7 Ala347Val A347V not reviewed Insufficiently evaluated not reviewed unknown Array rs16859132 377 9760 0.0386271 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMPRSS7 Ser690Cys S690C not reviewed Insufficiently evaluated not reviewed unknown Array rs340151 9104 10066 0.904431 57 0 100 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMPRSS9 Thr4Ala T4A not reviewed Insufficiently evaluated not reviewed unknown Array rs8100709 14 128 0.109375 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TMPRSS9 Ser30Thr S30T not reviewed Insufficiently evaluated not reviewed unknown Array rs891174 64 108 0.592593 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMPRSS9 Arg73Trp R73W not reviewed Insufficiently evaluated not reviewed unknown Array rs17685098 45 128 0.351562 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - TMPRSS9 Ser77Leu S77L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - TMPRSS9 Arg306Gln R306Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62120714 14 128 0.109375 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 1 N - - TMPRSS9 Ser659Thr S659T not reviewed Insufficiently evaluated not reviewed unknown Array rs60568869 1 128 0.0078125 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.312 - - -2 - 1 N - - TMPRSS9 Ser793Asn S793N not reviewed Insufficiently evaluated not reviewed unknown Array rs735911 11 128 0.0859375 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - TMPRSS9 Gly798Arg G798R not reviewed Insufficiently evaluated not reviewed unknown Array rs34615361 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMPRSS9 Glu938Lys E938K not reviewed Insufficiently evaluated not reviewed unknown Array rs7247162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 0 - 0 N - - TMSL3 Ile35Thr I35T not reviewed Insufficiently evaluated not reviewed unknown Array 15 7500 0.002 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TMTC2 Thr278Ala T278A not reviewed Insufficiently evaluated not reviewed unknown Array rs73360282 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - TMTC2 Tyr443Ser Y443S not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 3 - 4 - - TMTC3 Arg809His R809H not reviewed Insufficiently evaluated not reviewed unknown Array 111 10756 0.0103198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMTC4 Ala681Gly A681G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMTC4 Ala700Gly A700G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMTC4 Val419Ile V419I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMTC4 Val438Ile V438I not reviewed Insufficiently evaluated not reviewed unknown Array rs946837 3400 10758 0.316044 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMTC4 Gly262Ser G262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMTC4 Gly281Ser G281S not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMTC4 Arg36His R36H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMTC4 Arg55His R55H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMTC4 Thr25Ala T25A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746911 37 9948 0.00371934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMTC4 Thr6Ala T6A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMUB1 Pro178Thr P178T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 4 Y 1 N - - TMUB2 Arg208His R208H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMUB2 Arg228His R228H not reviewed Insufficiently evaluated not reviewed unknown Array rs9895154 459 10758 0.0426659 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 1 N - - TMX1 Ser92Thr S92T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - -2 - 0 N - - TMX1 Ser92Arg S92R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - 3 - 1 N - - TMX3 Tyr277Phe Y277F not reviewed Insufficiently evaluated not reviewed unknown Array rs73967585 88 10754 0.008183 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMX4 Gly303Arg G303R not reviewed Insufficiently evaluated not reviewed unknown Array rs2076015 2530 10758 0.235174 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMX4 Tyr215Cys Y215C not reviewed Insufficiently evaluated not reviewed unknown Array rs1135711 435 10758 0.040435 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TNC Glu2008Gln E2008Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13321 7738 10758 0.719279 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TNC Ala1781Thr A1781T not reviewed Insufficiently evaluated not reviewed unknown Array rs2274750 561 10758 0.0521472 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TNC Ile1677Leu I1677L not reviewed Insufficiently evaluated not reviewed unknown Array rs2104772 5174 10758 0.480944 47 0 63 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TNC Leu1247Ile L1247I not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNC Ser1125Arg S1125R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737056 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNC Arg1066His R1066H not reviewed Insufficiently evaluated not reviewed unknown Array rs45602433 1541 10758 0.143242 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TNC Gln680Arg Q680R not reviewed Insufficiently evaluated not reviewed unknown Array rs1061494 5154 10758 0.479085 42 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNC Val605Ile V605I not reviewed Insufficiently evaluated not reviewed unknown Array rs3827816 102 10758 0.00948132 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNC Gln539Arg Q539R not reviewed Insufficiently evaluated not reviewed unknown Array rs1757095 9854 10758 0.915969 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNFAIP2 Gln282Glu Q282E not reviewed Insufficiently evaluated not reviewed unknown Array rs1132339 5819 10152 0.573188 25 0 33 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 1 N - - TNFAIP2 Asn406Ile N406I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 7 Y 0 N - - TNFAIP2 Ser448Arg S448R not reviewed Insufficiently evaluated not reviewed unknown Array rs61706103 85 10756 0.00790257 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - 3 - 1 - 1 - - TNFAIP2 Thr565Ile T565I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229727 316 10758 0.0293735 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - TNFAIP3 Phe127Cys F127C not reviewed Insufficiently evaluated not reviewed unknown Array rs2230926 1531 10758 0.142313 14 0 18 0 0 - - - - - - - - - - - - - - Y - 0.049 - - 4 Y 2 N - - TNFAIP6 Ala132Thr A132T not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFAIP6 Gln144Arg Q144R not reviewed Insufficiently evaluated not reviewed unknown Array rs1046668 2099 10758 0.195111 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNFAIP8L3 Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array rs17647084 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFRSF10A Arg441Lys R441K not reviewed Insufficiently evaluated not reviewed unknown Array rs2230229 9151 10758 0.850623 56 0 98 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TNFRSF10A Asn297His N297H not reviewed Insufficiently evaluated not reviewed unknown Array rs17088980 187 10758 0.0173824 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.912 - - 0 - 3 - 5 - - TNFRSF10A Glu228Ala E228A not reviewed Insufficiently evaluated not reviewed unknown Array rs20576 1566 10758 0.145566 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.275 - - 3 - 0 N - - TNFRSF10A Arg209Thr R209T not reviewed Insufficiently evaluated not reviewed unknown Array rs20575 4401 10758 0.409091 25 0 40 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TNFRSF10A His141Arg H141R not reviewed Insufficiently evaluated not reviewed unknown Array rs6557634 4295 10758 0.399238 34 0 47 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 1 N - - TNFRSF10A Thr33Ile T33I not reviewed Insufficiently evaluated not reviewed unknown Array rs20577 807 10738 0.0751537 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TNFRSF10B Val191Ala V191A not reviewed Insufficiently evaluated not reviewed unknown Array rs13265018 9176 10758 0.852947 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TNFRSF10B Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array rs1047266 557 10758 0.0517754 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.345 - - 2 - 0 N - - TNFRSF10B Pro32Leu P32L not reviewed Insufficiently evaluated not reviewed unknown Array rs1129424 6995 10710 0.653128 49 0 77 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TNFRSF10C Thr7Ile T7I not reviewed Insufficiently evaluated not reviewed unknown Array rs10107826 379 10752 0.0352493 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.761 - - 3 - 2 - 1 - - TNFRSF10C Pro172Ser P172S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TNFRSF10C Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array rs9644063 8111 10756 0.754091 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TNFRSF10D Leu310Ser L310S not reviewed Insufficiently evaluated not reviewed unknown Array rs1133782 6327 10758 0.58812 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TNFRSF10D Arg276His R276H not reviewed Insufficiently evaluated not reviewed unknown Array rs55636833 362 10758 0.0336494 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFRSF10D Pro35Ser P35S not reviewed Insufficiently evaluated not reviewed unknown Array rs11135703 1592 10758 0.147983 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TNFRSF10D Arg18Cys R18C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNFRSF11A His141Tyr H141Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35211496 1324 10474 0.126408 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.909 Y - -1 - 2 N - - TNFRSF11A Ala192Val A192V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805034 5912 10758 0.549545 49 0 76 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - TNFRSF11B Asn3Lys N3K not reviewed Insufficiently evaluated not reviewed unknown Array rs2073618 6350 10706 0.593125 38 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TNFRSF13B Pro251Leu P251L not reviewed Insufficiently evaluated not reviewed unknown Array rs34562254 1250 10758 0.116193 14 0 15 0 0 - - - - - - - - - - - - Y - - - 0.183 Y Y 7 Y 3 - 9 - - TNFRSF13B Lys188Met K188M not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.27 Y Y 4 Y 4 - 1 - - TNFRSF13B Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.272 Y Y 1 - 4 - 9 - - TNFRSF13C Gly64Val G64V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y 8 Y 4 N - - TNFRSF14 Val241Ile V241I not reviewed Insufficiently evaluated not reviewed unknown Array rs2234167 1333 10758 0.123908 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.32 - - -4 - 0 N - - TNFRSF14 Lys17Arg K17R not reviewed Insufficiently evaluated not reviewed unknown Array rs4870 6017 10744 0.560034 37 0 58 0 0 - - - - - - - - - - - - - - - - 0.852 - - -3 - 1 N - - TNFRSF17 Asn81Ser N81S not reviewed Insufficiently evaluated not reviewed unknown Array rs373496 10321 10758 0.959379 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNFRSF17 Glu176Asp E176D not reviewed Insufficiently evaluated not reviewed unknown Array rs34546237 57 10758 0.00529838 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.292 - - -2 - 1 N - - TNFRSF18 Gly188Glu G188E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNFRSF18 Gly63Ser G63S not reviewed Insufficiently evaluated not reviewed unknown Array rs72894038 4 8662 0.000461787 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 2 - 1 N - - TNFRSF19 Ser31Thr S31T not reviewed Insufficiently evaluated not reviewed unknown Array rs9550987 2869 10758 0.266685 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TNFRSF19 Asn338Ser N338S not reviewed Insufficiently evaluated not reviewed unknown Array rs58111610 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TNFRSF19 Val405Ile V405I not reviewed Insufficiently evaluated not reviewed unknown Array rs3751362 1292 10758 0.120097 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TNFRSF1A Pro75Leu P75L not reviewed Insufficiently evaluated not reviewed unknown Array rs4149637 270 10758 0.0250976 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 7 Y 4 - 1 - - TNFRSF1B Met196Arg M196R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1061622 2493 10758 0.231735 18 0 19 1 1 - - - - - - - - - - - - - - - Y 0.986 - - 4 Y 2 N - - Low response to Infliximab. TNFRSF1B Glu232Lys E232K not reviewed Insufficiently evaluated not reviewed unknown Array rs5746026 303 10758 0.0281651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TNFRSF21 Pro652His P652H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TNFRSF21 Arg483Cys R483C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - TNFRSF25 Asp114Gly D114G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNFRSF25 Asp159Gly D159G not reviewed Insufficiently evaluated not reviewed unknown Array rs11800462 1166 10752 0.108445 14 0 13 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - TNFRSF8 Lys95Arg K95R not reviewed Insufficiently evaluated not reviewed unknown Array rs72861979 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TNFRSF8 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array rs1763642 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TNFRSF8 Ser402Gly S402G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230625 766 10758 0.0712028 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TNFSF10 Asp47Glu D47E not reviewed Insufficiently evaluated not reviewed unknown Array rs16845759 355 10758 0.0329987 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TNFSF10 Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - TNFSF12-TNFSF13 Asn176Ser N176S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803800 6938 10758 0.644915 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNFSF13 Gly67Arg G67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNFSF13 Asn96Ser N96S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803800 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFSF14 Lys178Glu K178E not reviewed Insufficiently evaluated not reviewed unknown Array rs344560 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFSF14 Lys214Glu K214E not reviewed Insufficiently evaluated not reviewed unknown Array rs344560 10305 10758 0.957892 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNFSF9 Asp80Tyr D80Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2234175 71 10140 0.00700197 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - TNFSF9 Arg150Trp R150W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10716 0.000186636 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 7 Y 0 N - - TNIP1 Ala260Val A260V not reviewed Insufficiently evaluated not reviewed unknown Array rs2233295 274 10758 0.0254694 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - TNIP1 Gly178Ser G178S not reviewed Insufficiently evaluated not reviewed unknown Array rs52817781 249 10758 0.0231456 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNIP1 Pro151Ala P151A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233290 1268 10744 0.118019 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - TNIP2 Ala396Val A396V not reviewed Insufficiently evaluated not reviewed unknown Array rs2269495 3550 10756 0.330048 18 0 24 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - TNK1 Arg534Cys R534C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - TNK1 Val593Met V593M not reviewed Insufficiently evaluated not reviewed unknown Array rs6503018 8426 10256 0.821568 52 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNK2 Arg748Gln R748Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.886 - - 0 - 3 - 2 - - TNK2 Arg826Gln R826Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57872314 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TNK2 Pro725Leu P725L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNK2 Pro803Leu P803L not reviewed Insufficiently evaluated not reviewed unknown Array rs56260729 1653 10600 0.155943 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TNK2 Arg505Gln R505Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 3 - 1 - - TNK2 Arg568Gln R568Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10614 0.00037686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNKS Asn1175Ser N1175S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNKS1BP1 Val1626Ala V1626A not reviewed Insufficiently evaluated not reviewed unknown Array rs34069781 360 10758 0.0334635 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNKS1BP1 His1605Arg H1605R not reviewed Insufficiently evaluated not reviewed unknown Array rs35272228 360 10758 0.0334635 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNKS1BP1 Gln1097Arg Q1097R not reviewed Insufficiently evaluated not reviewed unknown Array rs35950335 360 10758 0.0334635 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNKS1BP1 Gly770Arg G770R not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNKS1BP1 Pro604Ser P604S not reviewed Insufficiently evaluated not reviewed unknown Array rs12801000 357 10758 0.0331846 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNKS1BP1 Val489Met V489M not reviewed Insufficiently evaluated not reviewed unknown Array 24 10516 0.00228224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNKS1BP1 Thr322Ser T322S not reviewed Insufficiently evaluated not reviewed unknown Array rs4939134 4221 10748 0.392724 28 0 45 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TNKS1BP1 Ala100Pro A100P not reviewed Insufficiently evaluated not reviewed unknown Array rs34448143 143 10754 0.0132974 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNN Arg79Gly R79G not reviewed Insufficiently evaluated not reviewed unknown Array rs2072032 6475 10758 0.601878 46 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TNN Thr94Met T94M not reviewed Insufficiently evaluated not reviewed unknown Array rs41266080 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 3 - 7 - - TNN Asp289Asn D289N not reviewed Insufficiently evaluated not reviewed unknown Array rs16847812 1141 10758 0.106061 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.082 - - -1 - 0 N - - TNN Trp807Arg W807R not reviewed Insufficiently evaluated not reviewed unknown Array rs6696455 6220 10758 0.578174 42 0 63 0 0 - - - - - - - - - - - - - - - - 0.104 - - 7 Y 0 N - - TNN Pro930Leu P930L not reviewed Insufficiently evaluated not reviewed unknown Array rs2285215 6699 10758 0.622699 48 0 71 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - TNN Thr941Met T941M not reviewed Insufficiently evaluated not reviewed unknown Array rs10798333 4445 10758 0.413181 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - TNN Arg1115Gln R1115Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73030994 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TNN Asp1135Glu D1135E not reviewed Insufficiently evaluated not reviewed unknown Array rs10158841 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.945 - - -2 - 3 - 3 - - TNN Ala1156Val A1156V not reviewed Insufficiently evaluated not reviewed unknown Array rs2072036 986 10758 0.0916527 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - TNNI3 Pro82Ser P82S benign Low clinical importance, Uncertain benign dominant Array 0 0 0 2 2 - - - - 1 Y - - - - - - Y Y - - 0.999 Y Y 3 - Familial Hypertrophic Cardiomyopathy 1 30 5 377 2.513 6 N 7 0 0 Initially reported in a patient with elderly-onset hypertrophic cardiomyopathy, later reports find an allelic frequency of 0.03 in Afro-Caribbean controls. This contradicts a highly penetrant effect. TNNI3K Gln137Arg Q137R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TNNI3K Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNNI3K Ile292Val I292V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNNI3K Ile393Val I393V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNNI3K Thr637Met T637M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - TNNI3K Thr738Met T738M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 3 - 6 - - TNNI3K Asp833Tyr D833Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNNI3K Asp934Tyr D934Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45606732 4 10758 0.000371816 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - TNNT1 Gln159Lys Q159K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TNNT1 Gln170Lys Q170K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y -2 - 4 N - - TNNT2 Lys247Arg K247R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 4 - 5 - - TNNT2 Lys250Arg K250R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TNNT2 Lys253Arg K253R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 4 - 6 - - TNNT2 Lys260Arg K260R not reviewed Insufficiently evaluated not reviewed unknown Array rs3730238 663 10758 0.0616286 8 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - TNNT2 Ile215Thr I215T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TNNT2 Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TNNT2 Ile221Thr I221T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TNNT2 Ile228Thr I228T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TNP2 Arg131Trp R131W not reviewed Insufficiently evaluated not reviewed unknown Array rs11640138 4485 10008 0.448141 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 1 N - - TNP2 Gln39His Q39H not reviewed Insufficiently evaluated not reviewed unknown Array rs71383203 137 10286 0.0133191 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - -1 - 1 N - - TNR Thr1147Ile T1147I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731114 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNR Arg643Lys R643K not reviewed Insufficiently evaluated not reviewed unknown Array rs859427 7107 10758 0.660625 44 0 68 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TNR His414Tyr H414Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNR Ala128Ser A128S not reviewed Insufficiently evaluated not reviewed unknown Array rs2239819 2367 10758 0.220022 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TNR Ile17Val I17V not reviewed Insufficiently evaluated not reviewed unknown Array rs859398 7262 10758 0.675033 48 0 72 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TNRC18 Leu2525Val L2525V not reviewed Insufficiently evaluated not reviewed unknown Array 536 6602 0.0811875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNRC18 Pro2393Leu P2393L not reviewed Insufficiently evaluated not reviewed unknown Array rs12532973 712 7782 0.0914932 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 1 - - TNRC18 Glu1740Gln E1740Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3801048 1528 7820 0.195396 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.551 - - -2 - 0 N - - TNRC18 Asn1676Asp N1676D not reviewed Insufficiently evaluated not reviewed unknown Array rs35508364 1485 3234 0.459184 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TNRC18 Ala1267Gly A1267G not reviewed Insufficiently evaluated not reviewed unknown Array rs12671708 3394 10186 0.333202 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.469 - - 1 - 0 N - - TNRC18 Ala998Thr A998T not reviewed Insufficiently evaluated not reviewed unknown Array 81 9462 0.00856056 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - TNRC18 Ser579Pro S579P not reviewed Insufficiently evaluated not reviewed unknown Array rs4724663 9405 9420 0.998408 34 0 68 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TNRC18 Pro103Ser P103S not reviewed Insufficiently evaluated not reviewed unknown Array rs73057725 250 9988 0.02503 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - TNRC6A Gln100Pro Q100P not reviewed Insufficiently evaluated not reviewed unknown Array rs4788428 272 10442 0.0260486 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.761 - - 4 Y 1 N - - TNRC6A Pro115Gln P115Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11644562 472 10136 0.0465667 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNRC6A Asn185Lys N185K not reviewed Insufficiently evaluated not reviewed unknown Array rs11639856 1871 10226 0.182965 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - TNRC6A Ala592Thr A592T not reviewed Insufficiently evaluated not reviewed unknown Array rs6497759 2019 10758 0.187674 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TNRC6A Pro788Ser P788S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803716 1956 10750 0.181953 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - TNRC6A Asn799Asp N799D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNRC6A Gln1112His Q1112H not reviewed Insufficiently evaluated not reviewed unknown Array rs113388806 285 10758 0.0264919 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - TNRC6B Ser243Pro S243P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - TNRC6B Ser937Pro S937P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNRC6C Asp494Asn D494N not reviewed Insufficiently evaluated not reviewed unknown Array rs71385927 144 10084 0.01428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - TNRC6C Pro817Arg P817R not reviewed Insufficiently evaluated not reviewed unknown Array 1008 9788 0.102983 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TNRC6C Pro820Arg P820R not reviewed Insufficiently evaluated not reviewed unknown Array rs34293811 15 128 0.117188 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 0 N - - TNS1 Asn1722Ser N1722S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741262 914 10758 0.08496 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNS1 Gln1674Lys Q1674K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNS1 Val1604Ile V1604I not reviewed Insufficiently evaluated not reviewed unknown Array rs918949 7107 10758 0.660625 49 0 70 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TNS1 Ala1416Thr A1416T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746065 547 10758 0.0508459 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TNS1 Pro1202Ser P1202S not reviewed Insufficiently evaluated not reviewed unknown Array rs34291329 725 10758 0.0673917 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TNS1 Trp1197Arg W1197R not reviewed Insufficiently evaluated not reviewed unknown Array rs2571445 7289 10758 0.677542 45 0 67 0 0 - - - - - - - - - - - - - - Y - - - - 7 Y 1 N - - TNS1 Thr1065Asn T1065N not reviewed Insufficiently evaluated not reviewed unknown Array 123 10752 0.0114397 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNS1 Arg1004Trp R1004W not reviewed Insufficiently evaluated not reviewed unknown Array rs3796028 3594 10758 0.334077 36 0 45 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TNS1 Arg859Trp R859W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746994 428 10758 0.0397843 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNS1 Thr528Ile T528I not reviewed Insufficiently evaluated not reviewed unknown Array rs3796033 4181 10758 0.388641 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TNS3 Pro1054Gln P1054Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61731307 180 10114 0.0177971 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.11 - - 4 Y 0 N - - TNS3 Gly679Ser G679S not reviewed Insufficiently evaluated not reviewed unknown Array rs7808646 160 10256 0.0156006 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - TNS3 Asp606Gly D606G not reviewed Insufficiently evaluated not reviewed unknown Array rs73326532 5 10158 0.000492222 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.783 - - 4 Y 1 N - - TNS3 Gln600His Q600H not reviewed Insufficiently evaluated not reviewed unknown Array rs2293362 253 10258 0.0246637 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TNS4 Arg509Gln R509Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNS4 Ser498Asn S498N not reviewed Insufficiently evaluated not reviewed unknown Array rs2290207 2367 10758 0.220022 28 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNS4 Thr327Lys T327K not reviewed Insufficiently evaluated not reviewed unknown Array rs33923045 277 10758 0.0257483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNS4 Leu179Pro L179P not reviewed Insufficiently evaluated not reviewed unknown Array rs3764424 2942 10752 0.273623 36 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TNXB Ser4175Asn S4175N not reviewed Insufficiently evaluated not reviewed unknown Array 348 3552 0.097973 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - TNXB Ser606Asn S606N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TNXB Asp4172Asn D4172N not reviewed Insufficiently evaluated not reviewed unknown Array 341 3174 0.107435 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 1 N - - TNXB Asp603Asn D603N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - TNXB Arg4117His R4117H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TNXB Arg548His R548H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TNXB Arg4073His R4073H not reviewed Insufficiently evaluated not reviewed unknown Array 481 10722 0.044861 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TNXB Arg504His R504H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TNXB Asn4055Ile N4055I not reviewed Insufficiently evaluated not reviewed unknown Array rs17421133 1659 7524 0.220494 10 0 11 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 1 N - - TNXB Asn486Ile N486I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - TNXB Arg4052Trp R4052W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - TNXB Arg483Trp R483W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 3 - 1 - - TNXB Gly4029Arg G4029R not reviewed Insufficiently evaluated not reviewed unknown Array 1 7470 0.000133868 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - TNXB Gly460Arg G460R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - TNXB Met4002Thr M4002T not reviewed Insufficiently evaluated not reviewed unknown Array 45 1310 0.0343511 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - TNXB Met433Thr M433T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - TNXB Asn3972Thr N3972T not reviewed Insufficiently evaluated not reviewed unknown Array 5 38 0.131579 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TNXB Asn403Thr N403T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TNXB Ser3573Pro S3573P not reviewed Insufficiently evaluated not reviewed unknown Array 875 7480 0.116979 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 1 N - - TNXB Ser4Pro S4P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 3 - 10 - - TNXB Gly3212Val G3212V not reviewed Insufficiently evaluated not reviewed unknown Array rs9267795 192 6712 0.0286055 4 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - TNXB Arg2597Gln R2597Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2066982 879 6834 0.128622 13 0 14 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - TNXB Gly2518Glu G2518E not reviewed Insufficiently evaluated not reviewed unknown Array rs1009382 4351 6356 0.68455 49 0 75 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 1 N - - TNXB Gly2495Ser G2495S not reviewed Insufficiently evaluated not reviewed unknown Array rs2269429 872 7060 0.123513 10 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 1 N - - TNXB Pro2412Leu P2412L not reviewed Insufficiently evaluated not reviewed unknown Array rs12524664 619 6232 0.0993261 9 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 1 N - - TNXB Val2127Met V2127M not reviewed Insufficiently evaluated not reviewed unknown Array rs9469081 1378 9644 0.142887 12 0 13 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - TNXB Glu1905Lys E1905K not reviewed Insufficiently evaluated not reviewed unknown Array rs17207923 267 6940 0.0384726 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TNXB Asp1814Glu D1814E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - TNXB Arg1414Gln R1414Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9267799 257 6712 0.0382896 5 0 5 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TNXB Arg1255His R1255H not reviewed Insufficiently evaluated not reviewed unknown Array rs12211410 859 9636 0.0891449 13 0 14 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TNXB His1161Arg H1161R not reviewed Insufficiently evaluated not reviewed unknown Array rs185819 3146 6602 0.476522 44 0 58 0 0 - - - - - - - - - - - - Y - Y - - - Y 1 - 2 N - - TNXB Ser921Ala S921A not reviewed Insufficiently evaluated not reviewed unknown Array rs204900 1421 10198 0.139341 10 0 11 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 1 N - - TNXB Arg650His R650H not reviewed Insufficiently evaluated not reviewed unknown Array rs17201602 805 10344 0.0778229 7 0 7 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TNXB Arg511His R511H not reviewed Insufficiently evaluated not reviewed unknown Array rs204896 1347 9934 0.135595 8 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TNXB Arg490Gln R490Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 9638 0.00124507 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TNXB Thr302Ala T302A not reviewed Insufficiently evaluated not reviewed unknown Array rs1150752 805 10618 0.0758147 6 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TNXB Val203Met V203M not reviewed Insufficiently evaluated not reviewed unknown Array rs41270461 775 10556 0.073418 7 0 7 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - TNXB Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746206 154 10372 0.0148477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TOB2 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TOE1 Glu381Lys E381K not reviewed Insufficiently evaluated not reviewed unknown Array rs61323219 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 2 - 4 - - TOM1L2 Ile164Thr I164T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOM1L2 Ile214Thr I214T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.489 - - 3 - 1 N - - TOM1L2 Tyr150Ser Y150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TOM1L2 Tyr200Ser Y200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - TOP1MT Arg525Trp R525W not reviewed Insufficiently evaluated not reviewed unknown Array rs2293925 3455 10746 0.321515 29 0 38 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 1 N - - TOP1MT Arg344Cys R344C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TOP1MT Val256Ile V256I not reviewed Insufficiently evaluated not reviewed unknown Array rs11544484 3864 10758 0.359175 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TOP1MT Gln171Arg Q171R not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 1 N - - TOP1MT Glu128Gly E128G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 6 Y 0 N - - TOP2B Asp1609Glu D1609E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TOP3B His382Arg H382R not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.627 - - 1 - 1 N - - TOP3B Asp365Asn D365N not reviewed Insufficiently evaluated not reviewed unknown Array rs9610728 1285 10758 0.119446 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TOP3B Cys109Trp C109W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - TOPBP1 Asn1042Ser N1042S not reviewed Insufficiently evaluated not reviewed unknown Array 2292 9422 0.24326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TOPBP1 Ser817Leu S817L not reviewed Insufficiently evaluated not reviewed unknown Array rs17301766 1510 10098 0.149535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 1 N - - TOPBP1 Ile620Val I620V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9540 0.000104821 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TOPBP1 Lys457Gln K457Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3192149 7411 9582 0.773429 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TOPBP1 Glu28Lys E28K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 1 - 1 - - TOPORS Asn749Asp N749D not reviewed Insufficiently evaluated not reviewed unknown Array rs17857515 156 10758 0.0145008 3 0 2 0 0 - - - - - - - - - - - - Y - - - 0.334 Y - -1 - 2 N - - TOPORS Ser682Pro S682P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TOPORS Ser25Trp S25W not reviewed Insufficiently evaluated not reviewed unknown Array rs61758066 69 10716 0.00643897 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 3 - 3 - - TOR1A Asp216His D216H protective Low clinical importance, Likely protective unknown Array rs1801968 1108 10758 0.102993 19 0 21 3 3 2 Y - - 4 Y - - 1 Y - - Y - - - 0.205 Y Y 3 - 3 - 10 0 1 This SNP has been shown to be benign and play a protective role against Dystonia. TOR1AIP1 Met146Thr M146T not reviewed Insufficiently evaluated not reviewed unknown Array rs1281378 6045 10724 0.563689 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TOR1AIP1 Pro276Arg P276R not reviewed Insufficiently evaluated not reviewed unknown Array rs609521 5753 10756 0.534864 42 0 61 0 0 - - - - - - - - - - - - - - - - 0.982 - - 5 Y 1 N - - TOR1AIP1 Gln293His Q293H not reviewed Insufficiently evaluated not reviewed unknown Array rs17279712 517 10758 0.0480573 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.874 - - -1 - 2 N - - TOR1AIP2 Gly67Asp G67D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TOR2A Lys203Glu K203E not reviewed Insufficiently evaluated not reviewed unknown Array rs538066 10316 10430 0.98907 57 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TOR2A Gly253Asp G253D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - TOR2A Trp208Cys W208C not reviewed Insufficiently evaluated not reviewed unknown Array rs564754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TOR3A Phe13Leu F13L not reviewed Insufficiently evaluated not reviewed unknown Array rs2296377 6950 8462 0.821319 48 0 84 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TOR3A Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 1 - 1 - - TOX2 Phe231Val F231V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOX2 Phe273Val F273V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOX2 Phe282Val F282V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOX3 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array rs16951186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TOX3 Val128Met V128M not reviewed Insufficiently evaluated not reviewed unknown Array rs16951186 677 9784 0.0691946 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TP53 Pro72Arg P72R pathogenic Low clinical importance, Uncertain pathogenic unknown Array rs1042522 6752 10756 0.627743 62 0 91 6 5 3 Y 1 Y 0 Y - - 0 Y 0 Y Y Y - Y 0.127 Y Y 5 Y 4 N 9 0 0 This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer. TP53 Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800371 54 10758 0.00501952 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 4 - 7 - - TP53AIP1 Ala7Val A7V not reviewed Insufficiently evaluated not reviewed unknown Array 345 10758 0.0320692 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53BP1 Pro1702Ala P1702A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TP53BP1 Pro1705Ala P1705A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53BP1 Pro1707Ala P1707A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53BP1 Lys1136Gln K1136Q benign Insufficiently evaluated benign dominant Array rs2602141 76 128 0.59375 42 0 59 0 0 ! Y - - - - - - - - - - - - - - - - - -2 - 0 N - - High frequency of this variant in the PGP and computational scores suggest that this is likely a benign variant. TP53BP1 Lys1141Gln K1141Q benign Insufficiently evaluated benign dominant Array rs2602141 5261 10758 0.489031 22 0 28 0 0 ! Y - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - High frequency of this variant in the PGP and computational scores indicate that this is likely a benign variant. TP53BP1 Val1026Ala V1026A not reviewed Insufficiently evaluated not reviewed unknown Array rs45482998 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 3 - 3 - - TP53BP1 Val1031Ala V1031A not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - TP53BP1 Ala798Ser A798S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - TP53BP1 Ala803Ser A803S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TP53BP1 Gly412Ser G412S benign Insufficiently evaluated benign dominant Array rs689647 55 128 0.429688 37 0 50 0 0 ! Y - - - - - - - - - - - - - - - - - 2 - 0 N - - High frequency of this variant in the PGP and computational scores indicate that this is likely a benign variant. TP53BP1 Gly417Ser G417S benign Insufficiently evaluated benign dominant Array rs689647 3131 10758 0.291039 9 0 11 0 0 0 Y - - - - - - - - - - - - - - - - - 2 - 0 N - - High frequency of this variant in the PGP and computational scores indicate that this is likely a benign variant. TP53BP1 Asp353Glu D353E benign Insufficiently evaluated benign dominant Array rs560191 76 128 0.59375 42 0 59 0 0 ! Y - - - - - - - - - - - - - - - - - -2 - 0 N - - High frequency of this variant in the PGP and computational scores indicate that this is likely a benign variant. TP53BP1 Asp358Glu D358E benign Insufficiently evaluated benign dominant Array rs560191 5313 10758 0.493865 22 0 28 0 0 0 Y - - - - - - - - - - - - - - - - - -2 - 0 N - - High frequency of this variant in the PGP and computational scores indicate that this is likely a benign variant. TP53BP2 Ile1068Thr I1068T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TP53BP2 Ile939Thr I939T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TP53BP2 Gln505His Q505H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TP53BP2 Gln634His Q634H not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TP53BP2 Ala189Val A189V not reviewed Insufficiently evaluated not reviewed unknown Array 110 10756 0.0102269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53BP2 Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53I11 Gly75Ser G75S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53I13 Pro50Ala P50A not reviewed Insufficiently evaluated not reviewed unknown Array 69 10186 0.006774 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - TP53I13 Arg104Leu R104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TP53I13 Gly274Arg G274R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9724 0.000102838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TP53I3 Trp222Stop W222X not reviewed Insufficiently evaluated not reviewed unknown Array rs34048750 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TP53RK Thr129Ala T129A benign Insufficiently evaluated benign dominant Array rs11550540 763 10756 0.0709371 11 0 12 0 0 ! Y - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - High frequency of this variant in the PGP and computational scores suggest that this is likely a benign variant. TP53TG5 Val257Ala V257A not reviewed Insufficiently evaluated not reviewed unknown Array rs2231627 341 10758 0.0316973 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 3 - 1 - - TP53TG5 His219Gln H219Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2231622 340 10758 0.0316044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 3 - 1 - - TP53TG5 Arg57His R57H benign Insufficiently evaluated benign dominant Array rs2231616 1270 10758 0.118052 21 0 23 0 0 ! Y - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - High frequency of this variant in the PGP and computational scores suggest that this is likely a benign variant. TP63 Asn87Thr N87T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.038 Y - 1 - 1 N - - TPCN2 Arg84Trp R84W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPCN2 Val219Ile V219I not reviewed Insufficiently evaluated not reviewed unknown Array rs72928978 919 10758 0.0854248 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.782 - - -4 - 1 - 1 - - TPCN2 Lys376Arg K376R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750965 3125 10758 0.290482 27 0 28 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - TPCN2 Gly387Asp G387D not reviewed Insufficiently evaluated not reviewed unknown Array rs1466221 1155 10758 0.107362 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - TPCN2 Val451Gly V451G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 8 Y 2 N - - TPCN2 Met484Leu M484L benign Insufficiently evaluated benign unknown Array rs35264875 1383 10758 0.128555 6 0 6 0 0 - - - - - - - - - - - - - Y Y Y 0.333 - - -3 - 2 N 9 - - TPCN2 Leu564Pro L564P not reviewed Insufficiently evaluated not reviewed unknown Array rs2376558 9791 10758 0.910113 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TPCN2 Gly734Glu G734E benign Low clinical importance, Uncertain benign undefined Array rs3829241 3078 10756 0.286166 21 0 24 1 1 1 Y - - 2 Y 0 - - - 0 - - Y - - - - - 6 Y 2 N 0 0 Pigmentation allele. TPD52 Asp12Tyr D12Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TPD52 Asp52Tyr D52Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35099105 192 10758 0.0178472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TPD52L3 Phe118Leu F118L not reviewed Insufficiently evaluated not reviewed unknown Array rs3847262 9721 10758 0.903607 56 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPH2 Ser41Tyr S41Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.078 Y - 5 Y 2 - 5 - - TPM4 Glu144Lys E144K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.81 - - 0 - 1 N - - TPM4 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 1 - 1 - - TPO Ala257Ser A257S not reviewed Insufficiently evaluated not reviewed unknown Array rs4927611 4095 10758 0.380647 31 0 35 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 2 - - TPO Ala373Ser A373S not reviewed Insufficiently evaluated not reviewed unknown Array rs2280132 2799 6936 0.403547 10 0 13 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 2 - 2 - - TPO Ser398Thr S398T not reviewed Insufficiently evaluated not reviewed unknown Array rs2175977 5319 6780 0.784513 11 0 14 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - -2 - 3 - 4 - - TPO Pro433Ser P433S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TPO Pro549Ser P549S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TPO Pro606Ser P606S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.065 Y - 3 - 1 N - - TPO Thr552Pro T552P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TPO Thr668Pro T668P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TPO Thr725Pro T725P not reviewed Insufficiently evaluated not reviewed unknown Array rs732609 5052 10758 0.469604 41 0 55 0 0 2 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 - 3 - - TPO Val674Ala V674A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126799 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TPO Val790Ala V790A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126799 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TPO Val803Ala V803A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126799 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TPO Val847Ala V847A not reviewed Insufficiently evaluated not reviewed unknown Array rs1126799 6582 10758 0.611824 43 0 67 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 2 - 7 - - TPP1 Ser62Leu S62L not reviewed Insufficiently evaluated not reviewed unknown Array rs2734715 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.403 Y Y 6 Y 4 - 2 - - TPP2 Val512Ile V512I not reviewed Insufficiently evaluated not reviewed unknown Array rs73578896 36 10758 0.00334635 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPPP2 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPPP2 Arg133Leu R133L not reviewed Insufficiently evaluated not reviewed unknown Array rs9624 1019 10758 0.0947202 18 0 21 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - TPPP2 Tyr165Stop Y165X not reviewed Insufficiently evaluated not reviewed unknown Array rs76101114 294 10758 0.0273285 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TPR Val1178Ile V1178I not reviewed Insufficiently evaluated not reviewed unknown Array rs58030082 1 9702 0.000103071 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPR Ser960Asn S960N not reviewed Insufficiently evaluated not reviewed unknown Array rs3753565 1143 9886 0.115618 11 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPRX1 Pro304Leu P304L not reviewed Insufficiently evaluated not reviewed unknown Array 348 10756 0.032354 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPRX1 Pro228Ser P228S not reviewed Insufficiently evaluated not reviewed unknown Array 541 9644 0.0560971 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TPRX1 Pro208Ser P208S not reviewed Insufficiently evaluated not reviewed unknown Array 87 8712 0.00998622 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TPRX1 Pro206Leu P206L not reviewed Insufficiently evaluated not reviewed unknown Array rs62130758 1975 8564 0.230617 27 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TPRX1 Gly205Asp G205D not reviewed Insufficiently evaluated not reviewed unknown Array rs73036913 583 8520 0.0684272 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TPRX1 Gly35Ala G35A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPSAB1 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 795 9870 0.0805471 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TPSAB1 Asn132Lys N132K not reviewed Insufficiently evaluated not reviewed unknown Array 4015 10546 0.380713 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.111 - - 1 - 0 N - - TPSAB1 His136Arg H136R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.041 - - 1 - 1 - 3 - - TPSAB1 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array 2110 10744 0.196389 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - TPSAB1 Pro174Leu P174L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TPSAB1 Val205Ile V205I not reviewed Insufficiently evaluated not reviewed unknown Array 137 2208 0.0620471 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - TPSB2 Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPSB2 Ser175Pro S175P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TPSB2 His136Arg H136R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPSB2 Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPSB2 Thr115Ile T115I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TPSB2 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 1706 5956 0.286434 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TPSB2 Val76Leu V76L not reviewed Insufficiently evaluated not reviewed unknown Array 4343 10558 0.411347 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPSD1 Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array rs3865205 1621 10748 0.150819 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 4 - - TPSD1 Val25Ala V25A not reviewed Insufficiently evaluated not reviewed unknown Array rs1800984 6446 10746 0.599851 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TPSD1 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array rs1141967 3250 10752 0.302269 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.089 - - 0 - 0 N - - TPSD1 Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array rs3993983 1698 10758 0.157836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TPSD1 His143Arg H143R not reviewed Insufficiently evaluated not reviewed unknown Array 2884 10754 0.268179 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 1 - 0 N - - TPSD1 Ile144Val I144V not reviewed Insufficiently evaluated not reviewed unknown Array 2948 10754 0.274131 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TPSD1 Thr148Met T148M not reviewed Insufficiently evaluated not reviewed unknown Array 3300 10756 0.306805 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TPSG1 Phe288Leu F288L not reviewed Insufficiently evaluated not reviewed unknown Array rs1004041 5569 10736 0.518722 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPSG1 Val262Met V262M not reviewed Insufficiently evaluated not reviewed unknown Array rs58623186 165 10744 0.0153574 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.702 - - 0 - 1 N - - TPSG1 Thr239Ile T239I not reviewed Insufficiently evaluated not reviewed unknown Array rs11248860 8512 10720 0.79403 55 0 98 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TPSG1 Gly223Arg G223R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TPSG1 Arg193His R193H not reviewed Insufficiently evaluated not reviewed unknown Array 456 10438 0.0436865 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.091 - - 1 - 0 N - - TPSG1 Trp160Ser W160S not reviewed Insufficiently evaluated not reviewed unknown Array rs4984638 1538 10754 0.143017 11 0 12 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - TPSG1 Ser138Phe S138F not reviewed Insufficiently evaluated not reviewed unknown Array 504 10756 0.0468576 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.941 - - 5 Y 2 N - - TPSG1 Thr75Lys T75K not reviewed Insufficiently evaluated not reviewed unknown Array rs61587627 169 10450 0.0161722 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TPSG1 Val60Met V60M not reviewed Insufficiently evaluated not reviewed unknown Array rs760357 1334 10220 0.130528 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPTE Gly511Glu G511E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TPTE Gly531Glu G531E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TPTE Gly549Glu G549E not reviewed Insufficiently evaluated not reviewed unknown Array rs169758 549 10758 0.0510318 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TPTE Tyr444Ser Y444S not reviewed Insufficiently evaluated not reviewed unknown Array rs9996 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TPTE Tyr464Ser Y464S not reviewed Insufficiently evaluated not reviewed unknown Array rs9996 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TPTE Tyr482Ser Y482S not reviewed Insufficiently evaluated not reviewed unknown Array rs9996 6362 10758 0.591374 44 0 54 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TPTE Phe442Leu F442L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Phe462Leu F462L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Phe480Leu F480L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Leu432Pro L432P not reviewed Insufficiently evaluated not reviewed unknown Array rs150482 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPTE Leu452Pro L452P not reviewed Insufficiently evaluated not reviewed unknown Array rs150482 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPTE Leu470Pro L470P not reviewed Insufficiently evaluated not reviewed unknown Array rs150482 8244 10758 0.766313 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TPTE Lys348Glu K348E not reviewed Insufficiently evaluated not reviewed unknown Array rs212146 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Lys368Glu K368E not reviewed Insufficiently evaluated not reviewed unknown Array rs212146 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Lys386Glu K386E not reviewed Insufficiently evaluated not reviewed unknown Array rs212146 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPTE Lys325Asn K325N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPTE Lys345Asn K345N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPTE Lys363Asn K363N not reviewed Insufficiently evaluated not reviewed unknown Array rs73336307 139 10756 0.012923 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPTE Asp234Gly D234G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TPTE Asp254Gly D254G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TPTE Asp272Gly D272G not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TPTE Arg191Stop R191X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TPTE Arg211Stop R211X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TPTE Arg229Stop R229X not reviewed Insufficiently evaluated not reviewed unknown Array rs1810540 2869 10758 0.266685 15 0 14 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - TPTE Arg184Trp R184W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPTE Arg204Trp R204W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPTE Arg222Trp R222W not reviewed Insufficiently evaluated not reviewed unknown Array 1122 10756 0.104314 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TPTE Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE Arg195Gln R195Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1810856 1692 10756 0.157308 32 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TPTE2 Tyr338Phe Y338F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPTE2 Tyr372Phe Y372F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPTE2 Tyr449Phe Y449F not reviewed Insufficiently evaluated not reviewed unknown Array 15 100 0.15 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TPTE2 Ile333Val I333V not reviewed Insufficiently evaluated not reviewed unknown Array rs2497218 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPTE2 Ile367Val I367V not reviewed Insufficiently evaluated not reviewed unknown Array rs2497218 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPTE2 Ile444Val I444V not reviewed Insufficiently evaluated not reviewed unknown Array rs2497218 9995 10748 0.92994 29 0 50 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TPTE2 Leu33Arg L33R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TR2IT1 Ser30Ile S30I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRAF1 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array rs34119250 550 10758 0.0511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRAF3 Met129Thr M129T not reviewed Insufficiently evaluated not reviewed unknown Array rs1131877 4652 10758 0.432422 39 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRAF3IP1 Asn228Ser N228S not reviewed Insufficiently evaluated not reviewed unknown Array rs3769110 1091 10238 0.106564 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRAF3IP1 Arg239Trp R239W not reviewed Insufficiently evaluated not reviewed unknown Array rs34723381 422 10600 0.0398113 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRAF3IP1 Lys295Asn K295N not reviewed Insufficiently evaluated not reviewed unknown Array rs12464423 2484 10724 0.23163 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.932 - - 1 - 1 N - - TRAF3IP1 Thr416Ser T416S not reviewed Insufficiently evaluated not reviewed unknown Array rs58277463 21 128 0.164062 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TRAF3IP1 Met554Leu M554L not reviewed Insufficiently evaluated not reviewed unknown Array rs3739070 631 10756 0.0586649 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRAF3IP1 Met620Leu M620L not reviewed Insufficiently evaluated not reviewed unknown Array rs3739070 3 128 0.0234375 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.343 - - -3 - 1 N - - TRAF3IP2 His323Gln H323Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1043730 9050 10758 0.841234 55 0 97 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRAF3IP2 His332Gln H332Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRAF3IP2 Arg78Gly R78G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRAF3IP2 Arg87Gly R87G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRAF3IP2 Arg74Trp R74W not reviewed Insufficiently evaluated not reviewed unknown Array rs13190932 546 10758 0.0507529 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRAF3IP2 Arg83Trp R83W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRAF3IP2 Asp10Asn D10N not reviewed Insufficiently evaluated not reviewed unknown Array rs33980500 1056 10758 0.0981595 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRAF3IP2 Asp19Asn D19N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRAF3IP3 Gln353Glu Q353E not reviewed Insufficiently evaluated not reviewed unknown Array rs669694 8819 10758 0.819762 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TRAF6 Ser507Cys S507C not reviewed Insufficiently evaluated not reviewed unknown Array rs58304191 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - TRAF6 Arg293Gln R293Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAFD1 Ser256Arg S256R not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRAK1 Met376Ile M376I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRAK1 Met434Ile M434I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.468 - - -1 - 1 N - - TRAK1 Val604Leu V604L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAK2 Ile863Asn I863N not reviewed Insufficiently evaluated not reviewed unknown Array rs34594680 775 10758 0.0720394 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRAK2 Thr528Ile T528I not reviewed Insufficiently evaluated not reviewed unknown Array rs2244438 3031 10758 0.281744 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.936 - - 3 - 1 N - - TRAK2 Val142Ile V142I not reviewed Insufficiently evaluated not reviewed unknown Array rs13022344 6093 10758 0.566369 39 0 56 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - TRAP1 Arg692His R692H not reviewed Insufficiently evaluated not reviewed unknown Array rs2791 322 10758 0.0299312 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.483 - - 1 - 2 - 4 - - TRAP1 Glu572Lys E572K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - TRAP1 Thr535Ser T535S not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - TRAP1 Arg469Cys R469C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TRAP1 Asp395Glu D395E not reviewed Insufficiently evaluated not reviewed unknown Array rs1136948 1419 10758 0.131902 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.906 - - -2 - 1 N - - TRAP1 His311Arg H311R not reviewed Insufficiently evaluated not reviewed unknown Array rs58369950 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - TRAP1 Arg307His R307H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - TRAP1 Arg307Gly R307G not reviewed Insufficiently evaluated not reviewed unknown Array rs13926 3514 10758 0.326641 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TRAP1 Ser259Phe S259F not reviewed Insufficiently evaluated not reviewed unknown Array rs61753378 510 10758 0.0474066 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - TRAP1 Ile253Val I253V not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.744 - - -4 - 1 N - - TRAPPC10 Ala642Val A642V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.486 - Y 2 - 2 N - - TRAPPC10 Val726Met V726M not reviewed Insufficiently evaluated not reviewed unknown Array rs2071152 3379 10758 0.314092 32 0 43 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - TRAPPC10 Arg1140Gln R1140Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59605440 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 - Y 0 - 1 N - - TRAPPC4 Gln124Pro Q124P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - TRAPPC5 Ser52Ala S52A not reviewed Insufficiently evaluated not reviewed unknown Array rs6952 2487 8412 0.295649 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRAPPC9 Arg1050Gln R1050Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRAPPC9 Arg1148Gln R1148Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10742 0.000837832 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAT1 Pro124Thr P124T not reviewed Insufficiently evaluated not reviewed unknown Array rs57972201 261 10758 0.024261 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - TRAT1 Asp137Gly D137G not reviewed Insufficiently evaluated not reviewed unknown Array rs57744779 262 10758 0.024354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.032 - - 4 Y 1 - 1 - - TRAT1 Ser148Pro S148P not reviewed Insufficiently evaluated not reviewed unknown Array rs61585973 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - 3 - 3 - 1 - - TRDMT1 His101Tyr H101Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11254413 4763 10758 0.44274 39 0 44 0 0 - - - - - - - - - - - - - - - - 0.157 - - -1 - 0 N - - TRDN Ile540Met I540M not reviewed Insufficiently evaluated not reviewed unknown Array rs7771303 66 6548 0.0100794 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRDN Ile438Ser I438S not reviewed Insufficiently evaluated not reviewed unknown Array rs2873479 8768 9472 0.925676 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TRDN Ile438Asn I438N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - TRDN Asp419Glu D419E not reviewed Insufficiently evaluated not reviewed unknown Array rs17737379 1453 9236 0.157319 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TRDN Val404Gly V404G not reviewed Insufficiently evaluated not reviewed unknown Array rs28494009 1457 9350 0.155829 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TRDN Leu201Val L201V not reviewed Insufficiently evaluated not reviewed unknown Array rs6902416 7781 9242 0.841917 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRDN His144Tyr H144Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRDN Thr128Ser T128S not reviewed Insufficiently evaluated not reviewed unknown Array rs9490809 5226 9686 0.539542 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TREH Gly569Ala G569A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - TREH Pro561Ala P561A not reviewed Insufficiently evaluated not reviewed unknown Array rs6589670 128 128 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TREH Pro558Ala P558A not reviewed Insufficiently evaluated not reviewed unknown Array rs6589671 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TREH Arg486Trp R486W not reviewed Insufficiently evaluated not reviewed unknown Array rs2276064 146 10062 0.01451 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TREH Thr389Ala T389A not reviewed Insufficiently evaluated not reviewed unknown Array rs2276065 1528 9330 0.163773 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TREM1 Thr25Ser T25S not reviewed Insufficiently evaluated not reviewed unknown Array rs2234237 1130 10758 0.105038 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TREM2 Leu211Pro L211P not reviewed Insufficiently evaluated not reviewed unknown Array rs2234256 427 10758 0.0396914 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - TREM2 Thr96Lys T96K not reviewed Insufficiently evaluated not reviewed unknown Array rs2234253 410 10758 0.0381112 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 3 - 4 N - - TREML1 His231Pro H231P not reviewed Insufficiently evaluated not reviewed unknown Array rs34254490 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 3 - 3 - - TREML2 Ser144Gly S144G not reviewed Insufficiently evaluated not reviewed unknown Array rs3747742 2953 10758 0.274493 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 0 N - - TREML2 Arg69Gln R69Q not reviewed Insufficiently evaluated not reviewed unknown Array rs77093113 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TREML4 Arg62Gln R62Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - TREML4 Trp73Arg W73R not reviewed Insufficiently evaluated not reviewed unknown Array rs9369265 7402 10758 0.688046 46 0 76 0 0 - - - - - - - - - - - - - - - - 0.786 - - 7 Y 0 N - - TREML4 Thr146Lys T146K not reviewed Insufficiently evaluated not reviewed unknown Array rs9471515 391 10758 0.036345 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.28 - - 3 - 1 N - - TREML4 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array rs7769759 7404 10758 0.688232 48 0 80 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TRERF1 Asp1187Asn D1187N not reviewed Insufficiently evaluated not reviewed unknown Array rs11751765 410 10758 0.0381112 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - TRERF1 Cys834Ser C834S not reviewed Insufficiently evaluated not reviewed unknown Array rs2295275 608 10758 0.0565161 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 1 N - - TRERF1 Val766Ile V766I not reviewed Insufficiently evaluated not reviewed unknown Array rs59159203 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - TRERF1 Arg451His R451H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - TRERF1 Thr431Ala T431A not reviewed Insufficiently evaluated not reviewed unknown Array rs35162277 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - TREX2 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TRH Leu8Val L8V not reviewed Insufficiently evaluated not reviewed unknown Array rs5658 1282 10526 0.121794 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.553 - - 0 - 0 N - - TRIB3 Gln84Arg Q84R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2295490 1682 10756 0.156378 10 0 11 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - TRIB3 Pro115Arg P115R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 5 Y 2 N - - TRIB3 Glu347Lys E347K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10710 9.337e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 1 - 2 - - TRIM10 Arg421Trp R421W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TRIM10 Thr252Met T252M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735038 212 7520 0.0281915 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - TRIM10 Arg216Lys R216K not reviewed Insufficiently evaluated not reviewed unknown Array rs61737424 215 7524 0.0285752 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIM10 Gln210Leu Q210L not reviewed Insufficiently evaluated not reviewed unknown Array rs61737427 216 7524 0.0287081 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRIM10 Arg65His R65H not reviewed Insufficiently evaluated not reviewed unknown Array rs12212092 1280 10758 0.118981 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - TRIM13 Ser355Thr S355T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM13 Ser358Thr S358T not reviewed Insufficiently evaluated not reviewed unknown Array rs1056543 359 10758 0.0333705 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM14 Thr319Ala T319A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - TRIM15 Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array rs17194460 1127 7520 0.149867 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - TRIM15 Ala42Thr A42T not reviewed Insufficiently evaluated not reviewed unknown Array rs17194467 264 7516 0.0351251 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - TRIM15 Glu84Gln E84Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17194474 153 7524 0.0203349 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.553 - - -2 - 1 N - - TRIM15 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array rs56866777 229 7524 0.0304359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TRIM15 Glu181Gln E181Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TRIM15 Leu235Val L235V not reviewed Insufficiently evaluated not reviewed unknown Array rs34823152 260 7514 0.0346021 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.867 - - 0 - 2 N - - TRIM15 Ser324Asn S324N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs929156 1361 7508 0.181273 11 0 12 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - TRIM15 Glu377Lys E377K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - TRIM16 Gly561Val G561V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIM16 Arg493Trp R493W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM16 His254Arg H254R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM16 Glu121Asp E121D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM16L Arg42Lys R42K not reviewed Insufficiently evaluated not reviewed unknown Array rs8075739 4352 10758 0.404536 8 0 13 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRIM16L Gly294Ser G294S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM22 Asp155Asn D155N not reviewed Insufficiently evaluated not reviewed unknown Array rs7935564 5523 9854 0.560483 41 0 58 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - TRIM22 Thr232Ala T232A not reviewed Insufficiently evaluated not reviewed unknown Array rs2291843 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 1 - 4 - - TRIM22 Arg242Thr R242T not reviewed Insufficiently evaluated not reviewed unknown Array rs1063303 5204 10178 0.511299 40 0 53 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TRIM22 Thr294Lys T294K not reviewed Insufficiently evaluated not reviewed unknown Array rs73404240 197 9666 0.0203807 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - TRIM22 Arg321Lys R321K not reviewed Insufficiently evaluated not reviewed unknown Array rs12364019 289 9914 0.0291507 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - TRIM23 Thr499Met T499M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.601 - - 2 - 1 N - - TRIM23 Leu498Phe L498F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - TRIM23 Thr23Ala T23A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM24 Arg1009Ser R1009S not reviewed Insufficiently evaluated not reviewed unknown Array rs34585297 23 10750 0.00213953 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - TRIM24 Arg975Ser R975S not reviewed Insufficiently evaluated not reviewed unknown Array rs34585297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM25 Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array rs205498 8201 10758 0.762316 52 0 93 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRIM25 Thr185Ala T185A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731983 390 10758 0.0362521 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TRIM25 Val89Gly V89G not reviewed Insufficiently evaluated not reviewed unknown Array rs7212260 296 10542 0.0280782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIM26 Gln197His Q197H not reviewed Insufficiently evaluated not reviewed unknown Array rs17194565 13 10758 0.0012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - TRIM29 Tyr544Cys Y544C not reviewed Insufficiently evaluated not reviewed unknown Array rs11604169 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 3 - 1 - - TRIM29 Arg515Gln R515Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - TRIM29 Ile285Thr I285T not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM31 Glu421Lys E421K not reviewed Insufficiently evaluated not reviewed unknown Array rs1116221 2333 7520 0.310239 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM31 Lys394Gln K394Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - TRIM31 Val232Ile V232I not reviewed Insufficiently evaluated not reviewed unknown Array rs2523989 1233 10758 0.114612 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TRIM31 Asn127Asp N127D not reviewed Insufficiently evaluated not reviewed unknown Array rs34801993 104 7522 0.0138261 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - -1 - 0 N - - TRIM31 Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array rs3734838 550 7524 0.0730994 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.745 - - 8 Y 0 N - - TRIM31 Met101Ile M101I not reviewed Insufficiently evaluated not reviewed unknown Array rs35521684 104 7524 0.0138224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -1 - 0 N - - TRIM31 Arg72Trp R72W not reviewed Insufficiently evaluated not reviewed unknown Array rs34704616 104 7524 0.0138224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.166 - - 7 Y 0 N - - TRIM31 Pro17Arg P17R not reviewed Insufficiently evaluated not reviewed unknown Array rs36063651 104 7516 0.0138371 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - TRIM32 Thr257Arg T257R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TRIM33 Ile840Thr I840T not reviewed Insufficiently evaluated not reviewed unknown Array rs6537825 10123 10758 0.940974 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRIM33 Asp63Gly D63G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM34 Arg264Thr R264T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM34 Thr276Ser T276S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM34 Thr31Ser T31S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM34 Asp282His D282H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - TRIM34 Asp37His D37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - TRIM34 Arg139His R139H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM34 Arg384His R384H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM34 Asn159Lys N159K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM34 Asn404Lys N404K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM36 Asp678Asn D678N not reviewed Insufficiently evaluated not reviewed unknown Array rs2974617 10009 10756 0.93055 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRIM36 Asn456Ser N456S not reviewed Insufficiently evaluated not reviewed unknown Array rs17137481 818 10756 0.0760506 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TRIM37 Val838Ile V838I not reviewed Insufficiently evaluated not reviewed unknown Array rs7222388 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -4 - 1 N - - TRIM37 Arg640His R640H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - TRIM38 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737163 274 10758 0.0254694 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.148 - - -4 - 0 N - - TRIM39 Glu248Lys E248K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.433 - - 0 - 1 N - - TRIM4 Arg452Cys R452C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 8 Y 0 N - - TRIM4 Arg478Cys R478C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - TRIM4 Lys273Thr K273T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742750 215 10758 0.0199851 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM4 Lys299Thr K299T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 3 - 0 N - - TRIM40 Met100Ile M100I not reviewed Insufficiently evaluated not reviewed unknown Array 101 7522 0.0134273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM40 Thr183Met T183M not reviewed Insufficiently evaluated not reviewed unknown Array rs757262 2011 10758 0.186931 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIM40 Glu215Lys E215K not reviewed Insufficiently evaluated not reviewed unknown Array rs757259 2011 10758 0.186931 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM41 Glu62Gly E62G not reviewed Insufficiently evaluated not reviewed unknown Array rs73365903 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM41 Ala78Thr A78T not reviewed Insufficiently evaluated not reviewed unknown Array rs6601178 782 10758 0.0726901 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRIM41 Tyr506His Y506H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - TRIM42 Lys244Arg K244R not reviewed Insufficiently evaluated not reviewed unknown Array rs698673 10750 10758 0.999256 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRIM42 Val475Met V475M not reviewed Insufficiently evaluated not reviewed unknown Array rs28594654 5251 10758 0.488102 36 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM42 Ala579Glu A579E not reviewed Insufficiently evaluated not reviewed unknown Array rs9876490 5263 10758 0.489217 36 0 44 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - TRIM42 Val697Ala V697A not reviewed Insufficiently evaluated not reviewed unknown Array rs73868015 118 10758 0.0109686 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - TRIM43 His127Tyr H127Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM43 His136Asp H136D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - TRIM45 Met478Thr M478T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM45 Met496Thr M496T not reviewed Insufficiently evaluated not reviewed unknown Array rs1289658 5108 10758 0.474809 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIM45 Gly415Asp G415D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM45 Gly433Asp G433D not reviewed Insufficiently evaluated not reviewed unknown Array 302 10758 0.0280721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - 4 Y 0 N - - TRIM45 Arg395Gln R395Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3738413 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM45 Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3738413 970 10758 0.0901655 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - TRIM45 Cys375Tyr C375Y not reviewed Insufficiently evaluated not reviewed unknown Array rs749902 3142 10758 0.292062 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TRIM45 Arg353Gln R353Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34863850 184 10758 0.0171035 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TRIM45 Ser88Stop S88X not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRIM47 Arg187Trp R187W not reviewed Insufficiently evaluated not reviewed unknown Array 857 5890 0.145501 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRIM48 Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12799381 369 3234 0.1141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM48 Ile44Thr I44T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10692 0.00196409 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM48 Ile84Thr I84T not reviewed Insufficiently evaluated not reviewed unknown Array rs61894887 608 10676 0.0569502 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRIM49 Gly373Arg G373R not reviewed Insufficiently evaluated not reviewed unknown Array rs12417980 3296 10714 0.307635 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - TRIM5 Arg305Gln R305Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM5 Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM5 His419Tyr H419Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28381981 499 10758 0.0463841 6 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM5 Gly249Asp G249D not reviewed Insufficiently evaluated not reviewed unknown Array rs11038628 1339 10758 0.124466 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TRIM5 Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10838525 2982 10758 0.277189 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM5 Val112Phe V112F not reviewed Insufficiently evaluated not reviewed unknown Array rs11601507 631 10758 0.058654 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRIM5 His43Tyr H43Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3740996 1103 10758 0.102528 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRIM50 Trp13Arg W13R not reviewed Insufficiently evaluated not reviewed unknown Array rs28626137 10744 10754 0.99907 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - TRIM52 Glu251Val E251V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - TRIM53 Glu182Ala E182A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM55 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57965472 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 0 - 0 N - - TRIM55 Lys343Arg K343R not reviewed Insufficiently evaluated not reviewed unknown Array rs7843605 2854 10758 0.265291 29 0 39 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRIM56 Arg395Trp R395W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10412 0.000288129 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM56 Ala595Thr A595T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.274 - - 1 - 1 N - - TRIM58 Trp3Ser W3S not reviewed Insufficiently evaluated not reviewed unknown Array rs11204523 6477 9650 0.671192 26 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRIM58 Val322Ile V322I not reviewed Insufficiently evaluated not reviewed unknown Array rs1339847 1029 10758 0.0956497 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TRIM58 Thr374Met T374M not reviewed Insufficiently evaluated not reviewed unknown Array rs3811444 2763 10758 0.256832 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.13 - - 2 - 0 N - - TRIM6 Glu154Lys E154K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM6 Glu182Lys E182K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM6 Leu305Met L305M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIM6 Leu333Met L333M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIM6 Arg324Gly R324G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM6 Arg352Gly R352G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM6 His339Arg H339R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM6 His367Arg H367R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM6-TRIM34 Glu182Lys E182K not reviewed Insufficiently evaluated not reviewed unknown Array rs57856328 525 10758 0.0488009 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM6-TRIM34 Thr630Ser T630S not reviewed Insufficiently evaluated not reviewed unknown Array rs6578670 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM6-TRIM34 Asp636His D636H not reviewed Insufficiently evaluated not reviewed unknown Array rs3740997 247 10758 0.0229597 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - TRIM6-TRIM34 Arg738His R738H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM6-TRIM34 Asn758Lys N758K not reviewed Insufficiently evaluated not reviewed unknown Array rs16933844 593 10758 0.0551218 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRIM60 Asp48Val D48V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 8 Y 1 N - - TRIM60 Asp48Glu D48E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - TRIM60 Asp49Tyr D49Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.825 - - 7 Y 1 N - - TRIM60 Leu202Ile L202I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10754 0.00278966 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - TRIM60 Glu222Val E222V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRIM60 Glu422Asp E422D not reviewed Insufficiently evaluated not reviewed unknown Array 316 10758 0.0293735 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - TRIM62 Val473Ile V473I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737100 286 10758 0.0265849 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 1 N - - TRIM63 Lys237Glu K237E not reviewed Insufficiently evaluated not reviewed unknown Array rs2275950 2518 10758 0.234058 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM64 Val68Leu V68L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM65 Leu509Pro L509P not reviewed Insufficiently evaluated not reviewed unknown Array rs3760128 5462 10738 0.508661 36 0 58 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRIM65 Gly366Ser G366S not reviewed Insufficiently evaluated not reviewed unknown Array rs9892938 422 10536 0.0400532 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - TRIM65 Val222Gly V222G not reviewed Insufficiently evaluated not reviewed unknown Array rs7222757 4676 10752 0.434896 33 0 47 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TRIM66 Gln765Lys Q765K not reviewed Insufficiently evaluated not reviewed unknown Array rs11042015 73 3234 0.0225727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM66 Asn661His N661H not reviewed Insufficiently evaluated not reviewed unknown Array rs7947230 637 3234 0.19697 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM66 Leu630Val L630V not reviewed Insufficiently evaluated not reviewed unknown Array rs7935453 813 3232 0.251547 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM66 His466Arg H466R not reviewed Insufficiently evaluated not reviewed unknown Array rs11042022 2895 3214 0.900747 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRIM66 His324Arg H324R not reviewed Insufficiently evaluated not reviewed unknown Array rs11042023 2008 3234 0.620903 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRIM68 Cys442Tyr C442Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2231975 396 10758 0.0368098 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 1 - 3 - - TRIM68 Pro71Arg P71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TRIM69 Asp15Asn D15N not reviewed Insufficiently evaluated not reviewed unknown Array rs2470911 7081 10758 0.658208 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRIM69 Lys104Arg K104R not reviewed Insufficiently evaluated not reviewed unknown Array rs17588988 725 10758 0.0673917 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - TRIM69 Thr161Met T161M not reviewed Insufficiently evaluated not reviewed unknown Array rs3100139 8355 10758 0.776631 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIM69 Ala190Val A190V not reviewed Insufficiently evaluated not reviewed unknown Array rs3759880 1193 9654 0.123576 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIM69 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array rs3759880 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM7 Gly155Ser G155S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM7 Gly181Ser G181S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM7 Gly363Ser G363S not reviewed Insufficiently evaluated not reviewed unknown Array rs254460 1719 10598 0.1622 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIM7 Ser267Arg S267R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737740 126 10758 0.0117122 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TRIM7 Ser59Arg S59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM7 Ser85Arg S85R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM7 Val258Ala V258A not reviewed Insufficiently evaluated not reviewed unknown Array rs416574 5119 10758 0.475832 35 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIM7 Val50Ala V50A not reviewed Insufficiently evaluated not reviewed unknown Array rs416574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM7 Val76Ala V76A not reviewed Insufficiently evaluated not reviewed unknown Array rs416574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM7 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM7 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743096 125 10758 0.0116193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 1 N - - TRIM7 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM7 Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM7 Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743103 244 10758 0.0226808 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - TRIM7 Ala36Thr A36T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM7 Asp217Glu D217E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM7 Gln95Glu Q95E not reviewed Insufficiently evaluated not reviewed unknown Array 112 1552 0.0721649 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - -2 - 1 N - - TRIM73 Leu8Pro L8P not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM74 Trp13Arg W13R not reviewed Insufficiently evaluated not reviewed unknown Array 6439 10612 0.606766 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - TRIM77 Arg175Trp R175W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TRIM8 Leu200Arg L200R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.354 - - 6 Y 1 N - - TRIM8 Leu220Arg L220R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 6 Y 1 N - - TRIM9 Leu653Phe L653F not reviewed Insufficiently evaluated not reviewed unknown Array rs2275462 5643 10758 0.52454 44 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIML1 Glu91Gln E91Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - TRIML1 Glu132Lys E132K not reviewed Insufficiently evaluated not reviewed unknown Array rs13131525 4151 10758 0.385852 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TRIML2 Glu235Asp E235D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TRIO Ala1613Thr A1613T not reviewed Insufficiently evaluated not reviewed unknown Array rs16903474 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 1 - 4 - - TRIO Pro2456Leu P2456L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIO Lys2816Arg K2816R not reviewed Insufficiently evaluated not reviewed unknown Array rs73749289 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIO Lys3037Met K3037M not reviewed Insufficiently evaluated not reviewed unknown Array rs55900671 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIOBP Ser217Asn S217N not reviewed Insufficiently evaluated not reviewed unknown Array rs12628603 5424 9964 0.54436 43 0 59 0 0 - - - - - - - - - - - - Y - - - 0.914 Y - 0 - 2 N - - TRIOBP Gln398Pro Q398P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.97 Y - 4 Y 3 N - - TRIOBP Gln398Arg Q398R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.937 Y - 0 - 3 N - - TRIOBP Asp436Asn D436N not reviewed Insufficiently evaluated not reviewed unknown Array 529 9746 0.0542787 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - TRIOBP Ser444Asn S444N not reviewed Insufficiently evaluated not reviewed unknown Array rs35105846 3 40 0.075 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - TRIOBP Arg462Lys R462K not reviewed Insufficiently evaluated not reviewed unknown Array 9 8988 0.00100133 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - TRIOBP Ser493Asn S493N not reviewed Insufficiently evaluated not reviewed unknown Array rs4821700 1257 9664 0.13007 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - TRIOBP Asn542Ser N542S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TRIOBP Ala545Thr A545T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TRIOBP Thr594Ala T594A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 1 - 3 N - - TRIOBP Thr817Ser T817S not reviewed Insufficiently evaluated not reviewed unknown Array rs41302575 560 10030 0.0558325 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.16 Y - -2 - 1 N - - TRIOBP Asn863Lys N863K not reviewed Insufficiently evaluated not reviewed unknown Array rs9610841 3471 10148 0.342038 34 0 44 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 1 - 2 N - - TRIOBP Phe1187Leu F1187L not reviewed Insufficiently evaluated not reviewed unknown Array rs5756795 3453 9948 0.347105 31 0 40 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 0 - 2 N - - TRIOBP His1300Arg H1300R not reviewed Insufficiently evaluated not reviewed unknown Array rs739138 5419 8684 0.624021 18 0 27 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 1 - 1 N - - TRIOBP Arg1344Gln R1344Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 9664 0.0031043 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.869 Y - 0 - 3 N - - TRIOBP Glu1372Asp E1372D not reviewed Insufficiently evaluated not reviewed unknown Array rs8140207 2194 9862 0.22247 21 0 27 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - -2 - 1 N - - TRIOBP Trp1377Arg W1377R not reviewed Insufficiently evaluated not reviewed unknown Array rs8140958 9479 9822 0.965078 57 0 111 0 0 5 Y - - - - - - - - - - Y - - - 0.084 Y - 7 Y 1 N - - TRIOBP Ser2091Thr S2091T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10742 0.00465463 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - -2 - 1 N - - TRIOBP Ser378Thr S378T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TRIOBP Lys420Arg K420R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - TRIOBP Arg2188Gln R2188Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.787 Y - 0 - 2 N - - TRIOBP Arg475Gln R475Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TRIOBP Arg2250His R2250H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 1 - 1 N - - TRIOBP Arg537His R537H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TRIP11 His1884Arg H1884R not reviewed Insufficiently evaluated not reviewed unknown Array rs74071672 99 10756 0.00920417 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIP11 Gly1827Ser G1827S not reviewed Insufficiently evaluated not reviewed unknown Array rs1051340 3175 10758 0.295129 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIP11 Arg1752Lys R1752K not reviewed Insufficiently evaluated not reviewed unknown Array rs11851376 324 10752 0.0301339 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIP11 Glu1696Lys E1696K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIP11 Met1503Val M1503V not reviewed Insufficiently evaluated not reviewed unknown Array rs34839498 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TRIP11 Ile1040Val I1040V not reviewed Insufficiently evaluated not reviewed unknown Array rs34805848 120 10752 0.0111607 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - TRIP11 Asp884Gly D884G not reviewed Insufficiently evaluated not reviewed unknown Array rs34967261 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - TRIP11 Val795Leu V795L not reviewed Insufficiently evaluated not reviewed unknown Array rs34699762 156 10756 0.0145035 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TRIP11 Ser635Cys S635C not reviewed Insufficiently evaluated not reviewed unknown Array rs59635749 8 10740 0.000744878 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIP11 Met39Leu M39L not reviewed Insufficiently evaluated not reviewed unknown Array rs17127898 698 10758 0.064882 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRIP12 Arg372Leu R372L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - TRIP4 Asn358Asp N358D not reviewed Insufficiently evaluated not reviewed unknown Array rs74019250 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - TRIP6 His199Gln H199Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - TRIP6 Val230Ile V230I not reviewed Insufficiently evaluated not reviewed unknown Array rs2075756 2144 9580 0.2238 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - TRIP6 Glu274Asp E274D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - TRIT1 Arg205Leu R205L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 6 Y 2 N - - TRIT1 Phe202Leu F202L not reviewed Insufficiently evaluated not reviewed unknown Array rs3738671 987 10758 0.0917457 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TRMT11 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array rs73592112 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - TRMT12 Trp28Arg W28R not reviewed Insufficiently evaluated not reviewed unknown Array rs3812475 5901 10758 0.548522 49 0 64 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRMT2A Ser602Arg S602R not reviewed Insufficiently evaluated not reviewed unknown Array rs447017 496 10758 0.0461052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 1 - 3 - - TRMT2A Val506Met V506M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.624 - - 0 - 1 N - - TRMT2A Arg359Gly R359G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.39 - - 6 Y 1 N - - TRMT2A Leu214Ile L214I not reviewed Insufficiently evaluated not reviewed unknown Array rs71317167 274 10756 0.0254742 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - TRMT2B Gly337Arg G337R not reviewed Insufficiently evaluated not reviewed unknown Array rs56176072 414 8761 0.0472549 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - TRMT5 Arg291Ser R291S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TRMT5 Ser217Pro S217P not reviewed Insufficiently evaluated not reviewed unknown Array rs7142228 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRMT6 Glu299Gly E299G not reviewed Insufficiently evaluated not reviewed unknown Array rs35671838 2528 10758 0.234988 26 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TRMT61B Ser75Leu S75L not reviewed Insufficiently evaluated not reviewed unknown Array rs73920374 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - TRMU Ala10Ser A10S not reviewed Insufficiently evaluated not reviewed unknown Array rs11090865 1368 10156 0.134699 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.78 Y - -1 - 2 - 10 - - TRMU Leu133Pro L133P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.605 Y - 7 Y 2 N - - TRNP1 Trp27Arg W27R not reviewed Insufficiently evaluated not reviewed unknown Array rs6689941 5385 5438 0.990254 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRNT1 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array rs334773 9675 10758 0.899331 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TROAP Ile435Thr I435T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TROVE2 Thr169Pro T169P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - TRPA1 His1018Arg H1018R not reviewed Insufficiently evaluated not reviewed unknown Array rs959976 1444 10726 0.134626 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRPA1 Thr765Lys T765K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPA1 Val299Met V299M not reviewed Insufficiently evaluated not reviewed unknown Array rs35703015 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPA1 Lys186Asn K186N not reviewed Insufficiently evaluated not reviewed unknown Array rs7819749 7639 10758 0.710076 49 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRPA1 Glu179Lys E179K not reviewed Insufficiently evaluated not reviewed unknown Array rs920829 1813 10750 0.168651 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPA1 Arg58Thr R58T not reviewed Insufficiently evaluated not reviewed unknown Array rs16937976 1513 10756 0.140666 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRPA1 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array rs13268757 1506 10758 0.139989 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TRPC1 Ser17Thr S17T not reviewed Insufficiently evaluated not reviewed unknown Array 423 10758 0.0393196 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRPC3 Asn216Asp N216D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - TRPC3 Asn289Asp N289D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRPC4 Ile784Val I784V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPC4 Ile808Val I808V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPC4 Ile816Val I816V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPC4 Ile873Val I873V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPC4 Ile957Val I957V not reviewed Insufficiently evaluated not reviewed unknown Array rs73184536 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPC4 Ile962Val I962V not reviewed Insufficiently evaluated not reviewed unknown Array 544 10758 0.050567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TRPC4 Ala356Val A356V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPC4 Ala529Val A529V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 2 - 2 N - - TRPC6 Ala404Val A404V not reviewed Insufficiently evaluated not reviewed unknown Array rs36111323 918 10758 0.0853318 9 0 8 0 0 - - - - - - - - - - - - Y - - - 0.937 Y - 2 - 3 - 1 - - TRPC6 Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array rs3802829 595 9728 0.0611637 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 2 - - TRPC7 His167Tyr H167Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRPC7 Gly86Ala G86A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM1 His1498Gln H1498Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12898290 635 10198 0.0622671 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 6 - - TRPM1 Val1395Ile V1395I not reviewed Insufficiently evaluated not reviewed unknown Array rs3784588 450 9694 0.0464205 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - TRPM1 Glu1375Stop E1375X not reviewed Insufficiently evaluated not reviewed unknown Array rs3784589 614 9598 0.0639717 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 4 - - TRPM1 Asn1229Thr N1229T not reviewed Insufficiently evaluated not reviewed unknown Array rs17227996 423 9942 0.0425468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TRPM1 Gly426Arg G426R not reviewed Insufficiently evaluated not reviewed unknown Array rs73372436 97 9888 0.00980987 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRPM1 Ser32Asn S32N not reviewed Insufficiently evaluated not reviewed unknown Array rs2241493 7969 10032 0.794358 55 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPM1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs4779816 8016 9642 0.831363 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRPM2 Gly234Val G234V not reviewed Insufficiently evaluated not reviewed unknown Array rs73374078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM2 Val465Met V465M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM2 Asp543Glu D543E not reviewed Insufficiently evaluated not reviewed unknown Array rs1556314 2491 10758 0.231549 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TRPM2 Arg555Pro R555P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRPM2 Asp780Glu D780E not reviewed Insufficiently evaluated not reviewed unknown Array rs9974927 423 10758 0.0393196 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRPM2 Arg909Trp R909W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM2 Gln1189Arg Q1189R not reviewed Insufficiently evaluated not reviewed unknown Array rs9978351 10486 10740 0.97635 53 0 101 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPM2 Arg1199Trp R1199W not reviewed Insufficiently evaluated not reviewed unknown Array 21 10734 0.0019564 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - TRPM2 Asn1249Ser N1249S not reviewed Insufficiently evaluated not reviewed unknown Array rs45513700 27 10748 0.0025121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TRPM2 Lys1369Arg K1369R not reviewed Insufficiently evaluated not reviewed unknown Array 58 9670 0.00599793 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM3 Asn1544Thr N1544T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Asn1554Thr N1554T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Asn1556Thr N1556T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Asn1566Thr N1566T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Asn1569Thr N1569T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Asn1579Thr N1579T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Asn1707Thr N1707T not reviewed Insufficiently evaluated not reviewed unknown Array rs17535963 2499 10758 0.232292 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRPM3 Arg1529Lys R1529K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM3 Arg1539Lys R1539K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM3 Arg1541Lys R1541K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM3 Arg1551Lys R1551K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM3 Arg1554Lys R1554K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - -3 - 2 N - - TRPM3 Arg1564Lys R1564K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM3 Arg1692Lys R1692K not reviewed Insufficiently evaluated not reviewed unknown Array rs41287373 2473 10758 0.229875 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRPM3 Arg1507Gln R1507Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM3 Arg1517Gln R1517Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM3 Arg1519Gln R1519Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM3 Arg1529Gln R1529Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM3 Arg1532Gln R1532Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM3 Arg1542Gln R1542Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM3 Arg1670Gln R1670Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6560142 6225 10758 0.578639 52 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPM3 Leu1097Pro L1097P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM3 Leu934Pro L934P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TRPM3 Leu944Pro L944P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM3 Leu946Pro L946P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM3 Leu956Pro L956P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM3 Leu959Pro L959P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM3 Leu969Pro L969P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM4 Trp525Stop W525X not reviewed Insufficiently evaluated not reviewed unknown Array rs71352737 7 10076 0.00069472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRPM4 Arg706His R706H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - 1 - 0 N - - TRPM5 Ser934Phe S934F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - TRPM5 Gly900Ser G900S not reviewed Insufficiently evaluated not reviewed unknown Array rs34364959 830 10744 0.0772524 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRPM5 Pro646His P646H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 5 Y 2 N - - TRPM5 Arg578Gln R578Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4929982 3812 8972 0.424877 28 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRPM5 Ala456Thr A456T not reviewed Insufficiently evaluated not reviewed unknown Array 256 10434 0.0245352 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 2 - - TRPM5 Arg424His R424H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10690 9.3545e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - TRPM5 Ala364Thr A364T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10694 0.000374041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - TRPM5 Val335Leu V335L not reviewed Insufficiently evaluated not reviewed unknown Array rs34350821 902 10726 0.0840947 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 - 2 - - TRPM5 Val254Ala V254A not reviewed Insufficiently evaluated not reviewed unknown Array rs3986599 7960 10614 0.749953 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRPM5 Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array rs886277 4972 10744 0.46277 44 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPM5 Met80Thr M80T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 1 N - - TRPM6 Lys1584Glu K1584E not reviewed Insufficiently evaluated not reviewed unknown Array rs2274924 2555 10758 0.237498 24 0 27 0 0 - - - - - - - - - - - - Y - - - 0.854 Y - 0 - 3 - 6 - - TRPM6 Val1393Ile V1393I not reviewed Insufficiently evaluated not reviewed unknown Array rs3750425 1546 10758 0.143707 15 0 16 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - -4 - 2 - 5 - - TRPM6 Tyr431Phe Y431F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - -4 - 3 N - - TRPM7 Thr1482Ile T1482I not reviewed Insufficiently evaluated not reviewed unknown Array rs8042919 761 9606 0.0792213 7 0 8 2 2 - - - - - - - - - - - - - Y - - 0.017 - - 3 - 2 N - - TRPM7 Pro344Thr P344T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9558 0.000104624 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 4 Y 0 N - - TRPM7 Asn214His N214H not reviewed Insufficiently evaluated not reviewed unknown Array 15 9492 0.00158028 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - TRPM7 Ile75Val I75V not reviewed Insufficiently evaluated not reviewed unknown Array 12 9686 0.0012389 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - TRPM8 Arg247Thr R247T not reviewed Insufficiently evaluated not reviewed unknown Array rs13004520 440 10756 0.0409074 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - TRPM8 Tyr251Cys Y251C not reviewed Insufficiently evaluated not reviewed unknown Array rs17868387 442 10758 0.0410857 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TRPM8 Ser419Asn S419N not reviewed Insufficiently evaluated not reviewed unknown Array rs7593557 2374 10758 0.220673 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPS1 Pro829Ala P829A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TRPT1 Arg172Cys R172C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPT1 Arg221Cys R221C not reviewed Insufficiently evaluated not reviewed unknown Array rs11549690 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.816 - - 8 Y 1 N - - TRPT1 Arg222Cys R222C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPT1 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array 563 10758 0.0523331 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TRPT1 His123Arg H123R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPT1 His172Arg H172R not reviewed Insufficiently evaluated not reviewed unknown Array rs1059440 17 128 0.132812 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - TRPT1 His174Arg H174R not reviewed Insufficiently evaluated not reviewed unknown Array 1600 10758 0.148727 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRPT1 Gly16Ser G16S not reviewed Insufficiently evaluated not reviewed unknown Array rs11549691 509 10520 0.048384 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - TRPV1 Ile585Val I585V not reviewed Insufficiently evaluated not reviewed unknown Array rs8065080 3079 10112 0.30449 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TRPV1 Thr469Ile T469I not reviewed Insufficiently evaluated not reviewed unknown Array rs224534 2576 9808 0.262643 18 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRPV1 Met315Ile M315I not reviewed Insufficiently evaluated not reviewed unknown Array rs222747 8430 10492 0.803469 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRPV1 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPV1 Pro91Ser P91S not reviewed Insufficiently evaluated not reviewed unknown Array rs222749 361 10110 0.0357072 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - TRPV2 Gly17Ala G17A not reviewed Insufficiently evaluated not reviewed unknown Array rs3813768 23 10758 0.00213794 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - TRPV2 Arg562His R562H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - TRPV3 Ala628Thr A628T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPV3 Leu473Phe L473F not reviewed Insufficiently evaluated not reviewed unknown Array rs56169438 653 10758 0.060699 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPV3 Arg117Gly R117G not reviewed Insufficiently evaluated not reviewed unknown Array rs322937 3422 10758 0.318089 27 0 32 0 0 - - - - - - - - - - - - - - - - 0.254 - - 6 Y 0 N - - TRPV3 Ile25Val I25V not reviewed Insufficiently evaluated not reviewed unknown Array rs322965 10735 10758 0.997862 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TRPV4 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array rs3742030 321 10692 0.0300224 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 2 - 6 - - TRPV5 Ala563Thr A563T not reviewed Insufficiently evaluated not reviewed unknown Array rs4252499 441 10758 0.0409927 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPV5 Arg154His R154H not reviewed Insufficiently evaluated not reviewed unknown Array rs4236480 4031 10758 0.374698 27 0 38 0 0 - - - - - - - - - - - - - - - - 0.534 - - 1 - 0 N - - TRPV5 Ala8Val A8V not reviewed Insufficiently evaluated not reviewed unknown Array rs4252372 552 10758 0.0513107 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - TRPV6 Met681Thr M681T not reviewed Insufficiently evaluated not reviewed unknown Array rs4987682 2508 10758 0.233129 19 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRPV6 Met378Val M378V not reviewed Insufficiently evaluated not reviewed unknown Array rs4987667 2443 10758 0.227087 19 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPV6 Cys157Arg C157R not reviewed Insufficiently evaluated not reviewed unknown Array rs4987657 2436 10758 0.226436 19 0 28 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TRRAP Asp534Ala D534A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRRAP Thr1712Ile T1712I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRRAP Asn2022Ser N2022S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRRAP Ala2517Ser A2517S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRUB1 Ile152Thr I152T not reviewed Insufficiently evaluated not reviewed unknown Array rs62623677 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRUB1 Arg167Lys R167K not reviewed Insufficiently evaluated not reviewed unknown Array rs7099565 5966 10758 0.554564 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TRUB2 Thr209Ser T209S not reviewed Insufficiently evaluated not reviewed unknown Array rs2231637 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TSC1 Thr899Ser T899S pathogenic Insufficiently evaluated pathogenic dominant Array 1 126 0.00793651 1 0 1 2 2 1 Y - - 1 Y - - 4 - 1 - Y - - - - Y Y -2 - Tuberous Sclerosis 1 2 45 0 124 INF 4 - 1 - - This variant was found in one sporadic case of Tuberous Sclerosis in a Japanese individual. Missense mutations are rarely causative for this disease, however. TSC1 Gln654Glu Q654E pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 4 4 ! Y - - 1 Y 0 Y 4 Y 1 - Y - - - 0.063 Y Y -2 - Tuberous Sclerosis 1 4 136 0 124 INF 3 - 4 - - Found in three Southeast Asian individuals with Tuberous Sclerosis and in one fetus (later born live with cardiac rhabdomyoma). Case/control data has a significance of p = 0.08 (rare variant, needs more controls) and computational evidence does not support pathogenicity. TSC1 Met322Thr M322T not reviewed Insufficiently evaluated not reviewed unknown Array rs1073123 1799 10758 0.167224 20 0 21 0 0 ! Y - - - - - - - - - - Y - - - - Y Y 2 - 3 - 7 - - TSC1 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 1 - 5 - 2 - - TSC2 Leu309His L309H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10748 0.000279121 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - TSC2 Arg1034Gly R1034G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TSC2 Arg1078Gly R1078G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 6 Y 4 N - - TSC2 Arg1410Ser R1410S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TSC2 Arg1454Ser R1454S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TSC2 Arg1477Ser R1477S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.796 Y Y 3 - 3 N - - TSC22D1 Pro652Ser P652S not reviewed Insufficiently evaluated not reviewed unknown Array rs9525983 948 10758 0.0881205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TSC22D1 Ser256Gly S256G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSC22D2 Val271Ile V271I not reviewed Insufficiently evaluated not reviewed unknown Array rs36122343 256 9006 0.0284255 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.161 - - -4 - 0 N - - TSC22D2 Ala419Thr A419T not reviewed Insufficiently evaluated not reviewed unknown Array rs879634 1502 8270 0.18162 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - TSC22D4 Arg384Trp R384W not reviewed Insufficiently evaluated not reviewed unknown Array rs34666277 61 10660 0.00572233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TSC22D4 Gly134Ser G134S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - TSEN15 Gly19Asp G19D not reviewed Insufficiently evaluated not reviewed unknown Array rs2274432 2394 9924 0.241233 24 0 30 0 0 - - - - - - - - - - - - - - Y - 0.932 - - 4 Y 2 N - - TSEN15 Gln59His Q59H not reviewed Insufficiently evaluated not reviewed unknown Array rs1046934 3010 10758 0.279792 24 0 30 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 1 N - - TSEN2 Arg41His R41H not reviewed Insufficiently evaluated not reviewed unknown Array rs12495784 701 10758 0.0651608 14 0 15 0 0 - - - - - - - - - - - - Y - - - 0.079 Y Y 1 - 2 N - - TSEN2 Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array rs33955793 705 10758 0.0655326 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TSEN34 Leu112Val L112V not reviewed Insufficiently evaluated not reviewed unknown Array rs17849378 37 9734 0.00380111 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TSEN54 Glu4Asp E4D not reviewed Insufficiently evaluated not reviewed unknown Array 239 272 0.878676 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - TSEN54 His38Gln H38Q not reviewed Insufficiently evaluated not reviewed unknown Array 1083 7778 0.139239 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y -1 - 3 N - - TSEN54 Ile137Leu I137L not reviewed Insufficiently evaluated not reviewed unknown Array rs11559205 1097 10758 0.101971 15 0 17 0 0 - - - - - - - - - - - - Y - - - 0.846 Y Y -2 - 2 N - - TSEN54 Val190Met V190M not reviewed Insufficiently evaluated not reviewed unknown Array 437 10758 0.0406209 5 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TSEN54 Lys347Asn K347N not reviewed Insufficiently evaluated not reviewed unknown Array rs9911502 5722 10688 0.535367 29 0 45 0 0 3 Y - - - - - - - - - - Y - - - 0.968 Y Y 1 - 3 N - - TSEN54 Gln389Pro Q389P not reviewed Insufficiently evaluated not reviewed unknown Array 691 9562 0.0722652 8 0 9 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y 4 Y 2 N - - TSEN54 Ala437Val A437V not reviewed Insufficiently evaluated not reviewed unknown Array rs8064529 7086 10758 0.658673 43 0 62 0 0 3 Y - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - TSEN54 Gly525Arg G525R not reviewed Insufficiently evaluated not reviewed unknown Array rs11870627 753 10758 0.0699944 10 0 12 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 6 Y 2 N - - TSEPA Ile630Val I630V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TSEPA Val459Met V459M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSFM Ser6Ala S6A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 2 - 10 - - TSG101 Asp388Glu D388E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - -2 - 0 N - - TSG101 Asp388Gly D388G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - TSGA10 His659Arg H659R not reviewed Insufficiently evaluated not reviewed unknown Array rs73965254 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - TSGA10IP Arg303Gln R303Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSGA10IP Arg305Gln R305Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TSGA10IP Met521Val M521V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSGA10IP Met525Ile M525I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TSGA13 Arg24Cys R24C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.639 - - 8 Y 1 N - - TSGA14 Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TSHB Thr14Ala T14A not reviewed Insufficiently evaluated not reviewed unknown Array rs10776792 10497 10758 0.975739 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSHR Arg248Ser R248S not reviewed Insufficiently evaluated not reviewed unknown Array rs3783941 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - TSHR Arg269Ser R269S not reviewed Insufficiently evaluated not reviewed unknown Array rs3783941 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - TSHR Glu727Asp E727D not reviewed Insufficiently evaluated not reviewed unknown Array rs1991517 9893 10758 0.919595 56 0 101 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 - 1 - - TSHZ1 Ala468Thr A468T not reviewed Insufficiently evaluated not reviewed unknown Array rs33930274 319 10756 0.0296579 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSHZ1 Leu621Pro L621P not reviewed Insufficiently evaluated not reviewed unknown Array rs55679337 2974 10758 0.276445 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TSHZ1 Pro636Leu P636L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSHZ1 Val837Leu V837L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSHZ2 Arg113Ser R113S not reviewed Insufficiently evaluated not reviewed unknown Array rs739869 1038 10758 0.0964863 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 1 - 2 - - TSHZ2 Ala681Thr A681T not reviewed Insufficiently evaluated not reviewed unknown Array rs6097319 691 10758 0.0642313 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSHZ2 Arg827His R827H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - TSHZ3 Thr706Met T706M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - TSHZ3 Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9896 0.00111156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 1 N - - TSKS Asp382Gly D382G not reviewed Insufficiently evaluated not reviewed unknown Array rs2304202 1082 10758 0.100576 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TSKS Gly364Ser G364S not reviewed Insufficiently evaluated not reviewed unknown Array rs34082111 93 10748 0.00865277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 3 - 1 - - TSKS Ser272Gly S272G not reviewed Insufficiently evaluated not reviewed unknown Array rs57733064 806 10650 0.0756807 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSKS Glu257Lys E257K not reviewed Insufficiently evaluated not reviewed unknown Array 255 10704 0.0238229 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSKS Glu167Lys E167K not reviewed Insufficiently evaluated not reviewed unknown Array rs34701020 338 10758 0.0314185 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 2 - 2 - - TSKU Arg208Cys R208C not reviewed Insufficiently evaluated not reviewed unknown Array rs3740772 183 10758 0.0170106 7 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TSKU Ser248Asn S248N not reviewed Insufficiently evaluated not reviewed unknown Array rs11236938 887 10740 0.0825885 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TSKU Val308Ile V308I not reviewed Insufficiently evaluated not reviewed unknown Array rs3740771 133 10746 0.0123767 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TSKU Asp344Glu D344E not reviewed Insufficiently evaluated not reviewed unknown Array rs1149621 7909 9448 0.837108 50 0 87 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TSNARE1 Pro328Ala P328A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - TSNARE1 Val268Ile V268I not reviewed Insufficiently evaluated not reviewed unknown Array rs10435683 4167 10754 0.387484 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TSNARE1 Glu240Lys E240K not reviewed Insufficiently evaluated not reviewed unknown Array 280 10528 0.0265957 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - TSNARE1 Lys187Arg K187R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - -3 - 1 N - - TSNARE1 Thr118Ala T118A not reviewed Insufficiently evaluated not reviewed unknown Array rs10100935 5165 10712 0.48217 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSNARE1 Arg55Pro R55P not reviewed Insufficiently evaluated not reviewed unknown Array rs33970858 3585 10758 0.33324 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TSNARE1 Phe18Leu F18L not reviewed Insufficiently evaluated not reviewed unknown Array rs7814359 3489 10758 0.324317 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TSP50 Thr175Met T175M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSP50 Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - TSP50 Gln75Pro Q75P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSPAN10 Ala118Thr A118T not reviewed Insufficiently evaluated not reviewed unknown Array rs6565617 4040 9762 0.41385 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSPAN10 Val134Ala V134A not reviewed Insufficiently evaluated not reviewed unknown Array rs7210026 4142 10130 0.408884 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSPAN10 Tyr139Cys Y139C not reviewed Insufficiently evaluated not reviewed unknown Array rs6420484 7455 10170 0.733038 45 0 76 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TSPAN10 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array rs34896443 666 10430 0.0638543 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - TSPAN10 Tyr218His Y218H not reviewed Insufficiently evaluated not reviewed unknown Array rs34379910 379 10628 0.0356605 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TSPAN10 Arg323Ser R323S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSPAN11 Thr6Pro T6P not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - TSPAN11 Val190Ala V190A not reviewed Insufficiently evaluated not reviewed unknown Array rs2075333 7145 10734 0.665642 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSPAN15 Gly276Ser G276S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSPAN16 Tyr53Asp Y53D not reviewed Insufficiently evaluated not reviewed unknown Array rs34162761 571 10758 0.0530768 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.381 - - 7 Y 0 N - - TSPAN16 Ser233Cys S233C not reviewed Insufficiently evaluated not reviewed unknown Array rs318687 54 554 0.0974729 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.617 - - 3 - 0 N - - TSPAN18 Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array rs2291334 2800 10758 0.260271 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TSPAN3 Val12Met V12M not reviewed Insufficiently evaluated not reviewed unknown Array 25 9060 0.00275938 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - 0 - 0 N - - TSPAN32 Met91Thr M91T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10736 0.0101528 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TSPAN33 Thr102Pro T102P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - TSPAN5 Gly158Stop G158X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSPAN8 Ser213Ala S213A not reviewed Insufficiently evaluated not reviewed unknown Array rs1051334 3627 10742 0.337647 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TSPAN8 Gly73Ala G73A not reviewed Insufficiently evaluated not reviewed unknown Array rs3763978 3331 10758 0.30963 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.916 - - 1 - 1 N - - TSPAN8 Gly44Ser G44S not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSPAN8 Val35Ile V35I not reviewed Insufficiently evaluated not reviewed unknown Array rs17849952 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.353 - - -4 - 2 - 5 - - TSPO His53Arg H53R not reviewed Insufficiently evaluated not reviewed unknown Array rs6971 87 112 0.776786 42 0 72 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSPO Thr147Ala T147A not reviewed Insufficiently evaluated not reviewed unknown Array rs6971 42 0 72 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSPO Arg162His R162H not reviewed Insufficiently evaluated not reviewed unknown Array rs6972 1962 10678 0.183742 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSPYL1 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array rs3749894 1897 10758 0.176334 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSPYL1 Lys177Glu K177E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSPYL1 Glu174Val E174V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TSPYL1 Ala74Pro A74P not reviewed Insufficiently evaluated not reviewed unknown Array rs3749895 3134 10568 0.296556 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSPYL1 Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array rs3828743 2008 10526 0.190766 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TSPYL4 Arg30Leu R30L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232470 7380 10048 0.734475 52 0 91 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TSPYL4 Ala19Asp A19D not reviewed Insufficiently evaluated not reviewed unknown Array rs17524614 932 9940 0.0937626 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - TSPYL5 Thr120Ser T120S not reviewed Insufficiently evaluated not reviewed unknown Array rs2635164 2399 10494 0.228607 21 0 23 0 0 - - - - - - - - - - - - - - - - 0.707 - - -2 - 0 N - - TSPYL5 Ala21Ser A21S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10390 0.00250241 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TSPYL6 Arg246Cys R246C not reviewed Insufficiently evaluated not reviewed unknown Array rs17189743 181 10490 0.0172545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 3 - 1 - - TSPYL6 Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array rs843704 2465 10232 0.240911 18 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TSPYL6 Pro51Leu P51L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732717 113 9834 0.0114907 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - TSPYL6 Ser6Ile S6I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736715 897 10120 0.0886364 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 0 N - - TSR1 His750Gln H750Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35343613 317 10758 0.0294664 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 1 - - TSR1 Arg714His R714H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TSR1 Ser386Gly S386G not reviewed Insufficiently evaluated not reviewed unknown Array rs2281726 980 10758 0.091095 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSR1 Lys199Glu K199E not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - TSSC4 His81Arg H81R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - TSSC4 His226Gln H226Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2234279 1268 10752 0.117932 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.891 - - -1 - 1 N - - TSSC4 Gly262Arg G262R not reviewed Insufficiently evaluated not reviewed unknown Array rs2234281 825 10702 0.0770884 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - TSSC4 His274Pro H274P not reviewed Insufficiently evaluated not reviewed unknown Array rs2234283 10641 10720 0.992631 46 0 91 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TSSK1B Gly293Glu G293E not reviewed Insufficiently evaluated not reviewed unknown Array rs11953478 792 10640 0.0744361 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - TSSK2 Thr280Met T280M not reviewed Insufficiently evaluated not reviewed unknown Array rs1052763 2470 10758 0.229597 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSSK3 Ile71Val I71V not reviewed Insufficiently evaluated not reviewed unknown Array rs35508255 173 10758 0.0160811 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - TSSK4 Gln196Arg Q196R not reviewed Insufficiently evaluated not reviewed unknown Array rs1270764 574 10758 0.0533556 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.171 - - 0 - 0 N - - TSSK6 Leu229Val L229V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSSK6 Ala218Val A218V not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TST Pro285Ala P285A not reviewed Insufficiently evaluated not reviewed unknown Array rs11554714 238 10748 0.0221437 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.22 - - 2 - 1 N - - TST Glu102Asp E102D not reviewed Insufficiently evaluated not reviewed unknown Array rs35156365 378 10758 0.0351366 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTBK1 Glu605Gly E605G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TTBK1 Gly623Ala G623A not reviewed Insufficiently evaluated not reviewed unknown Array rs3800294 3334 10576 0.315242 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTBK1 Glu744Asp E744D not reviewed Insufficiently evaluated not reviewed unknown Array rs3800295 593 10756 0.055132 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - TTBK1 Glu759Asp E759D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - TTBK1 Lys1145Arg K1145R not reviewed Insufficiently evaluated not reviewed unknown Array rs3800297 2051 8244 0.248787 24 0 34 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 0 N - - TTBK1 Leu1184Ser L1184S not reviewed Insufficiently evaluated not reviewed unknown Array rs3800298 2340 8396 0.278704 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TTBK2 Thr1084Met T1084M not reviewed Insufficiently evaluated not reviewed unknown Array rs34348991 275 10122 0.0271685 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTBK2 Leu8Pro L8P not reviewed Insufficiently evaluated not reviewed unknown Array rs6493068 4737 10096 0.469196 45 0 68 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - TTC12 Met73Leu M73L not reviewed Insufficiently evaluated not reviewed unknown Array rs723077 4267 10758 0.396635 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TTC12 Met468Leu M468L not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - TTC12 Val563Ala V563A not reviewed Insufficiently evaluated not reviewed unknown Array rs35303225 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - TTC12 Tyr581Stop Y581X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTC12 Ala582Asp A582D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTC13 Gly38Arg G38R not reviewed Insufficiently evaluated not reviewed unknown Array 482 4160 0.115865 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TTC14 Pro433Arg P433R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTC14 Thr670Ser T670S not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - TTC15 Ser301Gly S301G not reviewed Insufficiently evaluated not reviewed unknown Array rs11686212 4196 10758 0.390035 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - TTC15 Gly587Cys G587C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TTC16 Lys29Arg K29R not reviewed Insufficiently evaluated not reviewed unknown Array rs73668586 204 10758 0.0189626 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - TTC16 Glu588Gly E588G not reviewed Insufficiently evaluated not reviewed unknown Array rs13298768 3933 10584 0.371599 33 0 44 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - TTC17 Ala36Thr A36T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 1 N - - TTC17 Ile145Leu I145L not reviewed Insufficiently evaluated not reviewed unknown Array rs12099204 1239 10758 0.11517 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TTC17 Leu702Met L702M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.348 - - -3 - 1 N - - TTC17 Gly813Val G813V not reviewed Insufficiently evaluated not reviewed unknown Array rs58244825 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.903 - - 8 Y 2 N - - TTC18 Asn944Asp N944D not reviewed Insufficiently evaluated not reviewed unknown Array rs4294502 1672 10758 0.155419 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TTC18 Trp849Leu W849L not reviewed Insufficiently evaluated not reviewed unknown Array rs12256262 256 10758 0.0237962 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.152 - - 5 Y 0 N - - TTC18 Pro450Ser P450S not reviewed Insufficiently evaluated not reviewed unknown Array 639 10758 0.0593977 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TTC19 Thr6Lys T6K not reviewed Insufficiently evaluated not reviewed unknown Array rs60636875 356 9984 0.0356571 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC19 Asp86Val D86V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10046 0.00517619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TTC19 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 212 8736 0.0242674 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTC19 Pro374Leu P374L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - TTC19 Arg425Thr R425T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - TTC21A Arg91Gln R91Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1112438 3546 9974 0.355524 36 0 45 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - TTC21A Arg290Lys R290K not reviewed Insufficiently evaluated not reviewed unknown Array rs1274972 4537 9676 0.468892 39 0 59 0 0 - - - - - - - - - - - - - - - - 0.36 - - -3 - 0 N - - TTC21A Glu293Lys E293K not reviewed Insufficiently evaluated not reviewed unknown Array rs1274971 4533 9624 0.47101 39 0 59 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - TTC21A Ala427Glu A427E not reviewed Insufficiently evaluated not reviewed unknown Array 37 10188 0.00363172 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - TTC21A Arg622Trp R622W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - TTC21A Arg623Trp R623W not reviewed Insufficiently evaluated not reviewed unknown Array rs35581078 356 9818 0.0362599 4 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC21A Thr921Ser T921S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTC21A Thr922Ser T922S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10220 0.000684931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTC21A Arg1055Leu R1055L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 6 Y 3 - 5 - - TTC21A Arg1056Leu R1056L not reviewed Insufficiently evaluated not reviewed unknown Array rs35934336 432 10386 0.0415945 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - TTC21A Arg1316Lys R1316K not reviewed Insufficiently evaluated not reviewed unknown Array rs704959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TTC21A Arg1317Lys R1317K not reviewed Insufficiently evaluated not reviewed unknown Array rs704959 5121 9640 0.531224 33 0 50 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TTC21B Cys1230Gly C1230G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC21B Arg867His R867H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTC21B Leu473Phe L473F not reviewed Insufficiently evaluated not reviewed unknown Array rs2163649 74 10758 0.0068786 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21B Pro463Ser P463S not reviewed Insufficiently evaluated not reviewed unknown Array rs16851307 157 10758 0.0145938 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC21B Thr276Ala T276A not reviewed Insufficiently evaluated not reviewed unknown Array rs7592429 10178 10758 0.946087 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTC21B Val201Met V201M not reviewed Insufficiently evaluated not reviewed unknown Array rs1432273 6486 10758 0.6029 52 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTC22 Ala510Val A510V not reviewed Insufficiently evaluated not reviewed unknown Array rs2286203 202 1506 0.13413 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - TTC22 Lys351Glu K351E not reviewed Insufficiently evaluated not reviewed unknown Array rs61733130 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC22 Arg342Stop R342X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTC22 Arg300Cys R300C not reviewed Insufficiently evaluated not reviewed unknown Array rs72895712 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - TTC22 Arg244Pro R244P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - TTC22 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - TTC22 Gly187Arg G187R not reviewed Insufficiently evaluated not reviewed unknown Array rs72895743 9 10686 0.000842223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - TTC22 Leu14Val L14V not reviewed Insufficiently evaluated not reviewed unknown Array rs671108 1677 10730 0.156291 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTC23 Pro392Leu P392L not reviewed Insufficiently evaluated not reviewed unknown Array rs35528984 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 7 Y 2 N - - TTC23 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 415 10758 0.0385759 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - TTC23L His22Arg H22R not reviewed Insufficiently evaluated not reviewed unknown Array rs6451173 6453 10060 0.641451 44 0 64 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - TTC24 Thr124Met T124M not reviewed Insufficiently evaluated not reviewed unknown Array 124 9996 0.012405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC24 Pro252Ala P252A not reviewed Insufficiently evaluated not reviewed unknown Array rs17392348 87 9892 0.00879498 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - TTC25 Pro4Ser P4S not reviewed Insufficiently evaluated not reviewed unknown Array rs34516580 297 9636 0.0308219 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC26 Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC26 Asp310Asn D310N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10754 0.0016738 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - -1 - 1 N - - TTC26 Gly427Ser G427S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC26 Gly458Ser G458S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC26 Pro481Ser P481S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC27 Tyr476Cys Y476C not reviewed Insufficiently evaluated not reviewed unknown Array rs2273660 1444 10756 0.134251 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 1 N - - TTC27 Thr498Met T498M not reviewed Insufficiently evaluated not reviewed unknown Array rs34188947 103 10758 0.00957427 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 3 - 2 - - TTC27 Arg525His R525H not reviewed Insufficiently evaluated not reviewed unknown Array rs2273664 543 10758 0.0504741 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 1 N - - TTC27 Gln838Lys Q838K not reviewed Insufficiently evaluated not reviewed unknown Array 2 8556 0.000233754 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.141 - - -2 - 0 N - - TTC28 Asn2402Ser N2402S not reviewed Insufficiently evaluated not reviewed unknown Array 26 3234 0.00803958 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC28 Arg2179Cys R2179C not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - TTC29 Ala276Thr A276T not reviewed Insufficiently evaluated not reviewed unknown Array rs10013280 3183 9484 0.335618 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.069 - - 1 - 0 N - - TTC29 His140Tyr H140Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17610219 4178 9600 0.435208 44 0 58 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TTC29 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741876 602 9646 0.0624093 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 1 N - - TTC3 Met840Thr M840T not reviewed Insufficiently evaluated not reviewed unknown Array rs1053808 5995 10758 0.55726 50 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TTC3 Asp1268Gly D1268G not reviewed Insufficiently evaluated not reviewed unknown Array rs61998236 269 10756 0.0250093 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.706 - - 4 Y 1 N - - TTC3 Asp1751His D1751H not reviewed Insufficiently evaluated not reviewed unknown Array rs1053966 6632 10758 0.616471 52 0 85 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TTC3 Ser1836Stop S1836X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTC3 Ile1959Met I1959M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TTC30A Val446Ile V446I not reviewed Insufficiently evaluated not reviewed unknown Array rs28630685 8161 10574 0.771799 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TTC30A Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array rs59353759 294 10758 0.0273285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - TTC30B Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array rs11694988 9189 10756 0.854314 52 0 97 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTC31 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array rs6707475 3403 9982 0.340914 39 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TTC32 Asp120His D120H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740565 208 10746 0.019356 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - 3 - 0 N - - TTC36 Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TTC37 Glu1314Lys E1314K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10752 0.00195312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC37 Arg1296Ser R1296S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303650 2521 10758 0.234337 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 1 N - - TTC37 Ala930Gly A930G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - TTC37 Leu437Val L437V not reviewed Insufficiently evaluated not reviewed unknown Array rs17084873 2603 10756 0.242004 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTC38 Phe243Leu F243L not reviewed Insufficiently evaluated not reviewed unknown Array rs130642 10319 10322 0.999709 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TTC38 Pro281Ser P281S not reviewed Insufficiently evaluated not reviewed unknown Array rs55653327 744 10446 0.0712234 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - TTC39B Ile580Val I580V not reviewed Insufficiently evaluated not reviewed unknown Array 220 10758 0.0204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - TTC39B Pro560Leu P560L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TTC39B Ile354Val I354V not reviewed Insufficiently evaluated not reviewed unknown Array rs1407977 7130 10756 0.662886 52 0 86 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TTC39C Lys309Glu K309E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC39C Lys370Glu K370E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TTC39C Ala388Val A388V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC39C Ala449Val A449V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TTC4 Ser47Thr S47T not reviewed Insufficiently evaluated not reviewed unknown Array rs1147990 5690 10758 0.528909 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TTC4 Leu187Phe L187F not reviewed Insufficiently evaluated not reviewed unknown Array rs62000412 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - TTC5 Gly424Val G424V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TTC5 Tyr309Cys Y309C not reviewed Insufficiently evaluated not reviewed unknown Array rs61741728 88 10758 0.00817996 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - TTC5 Gln47Arg Q47R not reviewed Insufficiently evaluated not reviewed unknown Array rs3742945 7987 10758 0.742424 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTC7A Ala54Thr A54T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTC7A Val538Leu V538L not reviewed Insufficiently evaluated not reviewed unknown Array rs2304290 1886 10758 0.175311 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTC8 Lys85Arg K85R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 4 - 1 - - TTC8 Lys95Arg K95R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTC9 Pro103Ala P103A not reviewed Insufficiently evaluated not reviewed unknown Array rs4902834 7793 8894 0.876209 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.071 - - 2 - 0 N - - TTC9 Cys214Phe C214F not reviewed Insufficiently evaluated not reviewed unknown Array rs45621632 319 9882 0.0322809 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - TTC9B Leu12Phe L12F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - TTF1 Arg401Gln R401Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3739916 541 10758 0.0502882 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.074 Y - 0 - 2 - 2 - - TTF1 Gly360Val G360V not reviewed Insufficiently evaluated not reviewed unknown Array rs3739915 513 10758 0.0476854 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 8 Y 4 - 1 - - TTF1 Val303Ala V303A not reviewed Insufficiently evaluated not reviewed unknown Array rs3739914 28 10758 0.00260271 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TTF1 Ala290Ser A290S not reviewed Insufficiently evaluated not reviewed unknown Array rs8999 954 10758 0.0886782 9 0 11 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - TTF2 Lys131Arg K131R not reviewed Insufficiently evaluated not reviewed unknown Array rs73006031 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - -3 - 2 N - - TTF2 Lys167Glu K167E not reviewed Insufficiently evaluated not reviewed unknown Array rs998532 5053 10758 0.469697 33 0 49 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - TTF2 Glu201Asp E201D not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - TTF2 Glu256Gly E256G not reviewed Insufficiently evaluated not reviewed unknown Array rs34334470 69 10758 0.00641383 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.406 - - 6 Y 1 N - - TTF2 Ser273Thr S273T not reviewed Insufficiently evaluated not reviewed unknown Array rs17036832 216 10758 0.0200781 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTF2 Met987Thr M987T not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTF2 Lys1134Arg K1134R not reviewed Insufficiently evaluated not reviewed unknown Array rs41276572 242 10758 0.0224949 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - -3 - 3 - 2 - - TTF2 Asp1155His D1155H not reviewed Insufficiently evaluated not reviewed unknown Array rs34236116 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TTK Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230513 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TTL Ala133Thr A133T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733584 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - TTLL10 Gly25Ser G25S not reviewed Insufficiently evaluated not reviewed unknown Array rs6668667 263 3234 0.0813234 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TTLL10 Cys24Arg C24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TTLL10 Cys97Arg C97R not reviewed Insufficiently evaluated not reviewed unknown Array 187 10742 0.0174083 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TTLL10 Arg160Trp R160W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTLL10 Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array 58 10736 0.00540238 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TTLL10 Val176Ala V176A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - TTLL10 Val249Ala V249A not reviewed Insufficiently evaluated not reviewed unknown Array rs13374146 1801 10590 0.170066 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - TTLL10 Leu355Val L355V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTLL10 Leu428Val L428V not reviewed Insufficiently evaluated not reviewed unknown Array rs74046640 309 10754 0.0287335 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.595 - - 0 - 1 N - - TTLL10 Ser375Asn S375N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTLL10 Ser448Asn S448N not reviewed Insufficiently evaluated not reviewed unknown Array rs1320571 1577 10758 0.146589 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTLL10 Arg396His R396H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTLL10 Gly578Asp G578D not reviewed Insufficiently evaluated not reviewed unknown Array 98 1470 0.0666667 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - 4 Y 0 N - - TTLL10 Pro619Leu P619L not reviewed Insufficiently evaluated not reviewed unknown Array 10 2034 0.00491642 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 7 Y 2 N - - TTLL11 Asn213Lys N213K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10174 0.00117948 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - TTLL11 Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742319 2642 9510 0.277813 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTLL12 Phe542Leu F542L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - TTLL12 Val464Met V464M not reviewed Insufficiently evaluated not reviewed unknown Array rs34074034 2034 10758 0.189069 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 1 N - - TTLL12 Val297Met V297M not reviewed Insufficiently evaluated not reviewed unknown Array rs11704935 726 10746 0.06756 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTLL12 Asn95Ser N95S not reviewed Insufficiently evaluated not reviewed unknown Array rs13058467 1023 10758 0.095092 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TTLL12 Arg84Trp R84W not reviewed Insufficiently evaluated not reviewed unknown Array rs138951 888 10758 0.0825432 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.692 - - 7 Y 0 N - - TTLL13 Ala126Thr A126T not reviewed Insufficiently evaluated not reviewed unknown Array rs12912620 2562 10758 0.238148 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTLL13 Pro175Thr P175T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - TTLL13 Thr262Ile T262I not reviewed Insufficiently evaluated not reviewed unknown Array rs2063743 2397 10758 0.222811 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TTLL2 Gly3Arg G3R not reviewed Insufficiently evaluated not reviewed unknown Array rs12526094 490 10670 0.0459231 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTLL2 Pro63Ser P63S not reviewed Insufficiently evaluated not reviewed unknown Array rs34350976 281 10758 0.0261201 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTLL2 Leu202Pro L202P not reviewed Insufficiently evaluated not reviewed unknown Array rs6936639 274 10758 0.0254694 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTLL2 Arg425Gly R425G not reviewed Insufficiently evaluated not reviewed unknown Array rs909545 8940 10758 0.83101 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TTLL2 Lys441Thr K441T not reviewed Insufficiently evaluated not reviewed unknown Array rs41266331 1569 10758 0.145845 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TTLL2 Gly445Ser G445S not reviewed Insufficiently evaluated not reviewed unknown Array rs9457304 1079 10758 0.100297 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - TTLL2 Val559Ile V559I not reviewed Insufficiently evaluated not reviewed unknown Array rs34931196 302 10758 0.0280721 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - TTLL3 Asp122His D122H not reviewed Insufficiently evaluated not reviewed unknown Array rs73116112 61 10278 0.00593501 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.28 - - 3 - 1 N - - TTLL3 Met502Arg M502R not reviewed Insufficiently evaluated not reviewed unknown Array rs2290305 7028 10758 0.653281 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TTLL3 Ala689Thr A689T not reviewed Insufficiently evaluated not reviewed unknown Array rs1057278 1806 9972 0.181107 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - TTLL4 Glu34Gln E34Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3731877 5511 10758 0.51227 39 0 52 0 0 - - - - - - - - - - - - - - - - 0.877 - - -2 - 1 N - - TTLL4 Gln47His Q47H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733652 362 10758 0.0336494 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - TTLL4 Arg418His R418H not reviewed Insufficiently evaluated not reviewed unknown Array rs2114664 434 10758 0.0403421 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 3 - 4 - - TTLL4 Ile1190Phe I1190F not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - TTLL5 Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303345 5070 10758 0.471277 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.046 - - 2 - 0 N - - TTLL5 Phe1267Ser F1267S not reviewed Insufficiently evaluated not reviewed unknown Array rs1133834 3146 10758 0.292434 38 0 48 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TTLL6 Glu405Asp E405D not reviewed Insufficiently evaluated not reviewed unknown Array rs2032844 2703 10758 0.251255 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TTLL6 Glu712Asp E712D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTLL6 Trp20Gly W20G not reviewed Insufficiently evaluated not reviewed unknown Array rs3959442 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTLL7 Lys34Glu K34E not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - TTLL8 His745Asp H745D not reviewed Insufficiently evaluated not reviewed unknown Array rs73893113 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTLL8 Gly719Ser G719S not reviewed Insufficiently evaluated not reviewed unknown Array rs738333 4 10 0.4 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TTLL8 Gly719Arg G719R not reviewed Insufficiently evaluated not reviewed unknown Array rs738333 4 10 0.4 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TTLL8 Ala710Glu A710E not reviewed Insufficiently evaluated not reviewed unknown Array rs79298 12 60 0.2 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TTLL8 Val554Met V554M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTLL8 Ala436Thr A436T not reviewed Insufficiently evaluated not reviewed unknown Array rs11101958 20 128 0.15625 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTLL8 Glu258Lys E258K not reviewed Insufficiently evaluated not reviewed unknown Array rs9628315 56 124 0.451613 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TTLL9 Thr274Met T274M not reviewed Insufficiently evaluated not reviewed unknown Array 39 9948 0.00392039 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTMA Phe151Cys F151C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTMA Ala68Val A68V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTN Ser26063Gly S26063G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser26188Gly S26188G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser26255Gly S26255G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser32560Gly S32560G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Pro25931Ser P25931S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro26056Ser P26056S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro26123Ser P26123S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro32428Ser P32428S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg25108Cys R25108C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg25233Cys R25233C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg25300Cys R25300C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg31605Cys R31605C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ser24823Asn S24823N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser24948Asn S24948N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser25015Asn S25015N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser31320Asn S31320N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile24324Met I24324M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile24449Met I24449M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile24516Met I24516M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile30821Met I30821M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile24324Ser I24324S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ile24449Ser I24449S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ile24516Ser I24516S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ile30821Ser I30821S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Gly24300Asp G24300D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gly24425Asp G24425D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gly24492Asp G24492D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gly30797Asp G30797D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Ile23945Asn I23945N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ile24070Asn I24070N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ile24137Asn I24137N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ile30442Asn I30442N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ser23636Tyr S23636Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ser23761Tyr S23761Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ser23828Tyr S23828Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ser30133Tyr S30133Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Pro22786Ser P22786S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro22911Ser P22911S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro22978Ser P22978S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro29283Ser P29283S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Gln22617Arg Q22617R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln22742Arg Q22742R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln22809Arg Q22809R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln29114Arg Q29114R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg22016Stop R22016X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg22141Stop R22141X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg22208Stop R22208X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg28513Stop R28513X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Pro21902Ser P21902S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro22027Ser P22027S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro22094Ser P22094S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro28399Ser P28399S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Cys21734Stop C21734X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Cys21859Stop C21859X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Cys21926Stop C21926X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Cys28231Stop C28231X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Ser21645Asn S21645N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser21770Asn S21770N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser21837Asn S21837N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser28142Asn S28142N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Trp21292Gly W21292G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp21417Gly W21417G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp21484Gly W21484G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp27789Gly W27789G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Tyr20158His Y20158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr20283His Y20283H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr20350His Y20350H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr26655His Y26655H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ser19964Pro S19964P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser20089Pro S20089P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser20156Pro S20156P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser26461Pro S26461P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser19052Leu S19052L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser19177Leu S19177L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser19244Leu S19244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser25549Leu S25549L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Trp18826Arg W18826R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp18951Arg W18951R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp19018Arg W19018R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp25323Arg W25323R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN His18709Arg H18709R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His18834Arg H18834R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His18901Arg H18901R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His25206Arg H25206R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg18620His R18620H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg18745His R18745H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg18812His R18812H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg25117His R25117H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ser18254Asn S18254N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser18379Asn S18379N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser18446Asn S18446N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser24751Asn S24751N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg18220Cys R18220C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg18345Cys R18345C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg18412Cys R18412C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg24717Cys R24717C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Leu17868Ile L17868I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Leu17993Ile L17993I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Leu18060Ile L18060I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Leu24365Ile L24365I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Asp16814Gly D16814G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Asp16939Gly D16939G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Asp17006Gly D17006G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Asp23311Gly D23311G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Ile16508Thr I16508T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile16633Thr I16633T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile16700Thr I16700T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile23005Thr I23005T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Thr15881Met T15881M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr16006Met T16006M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr16073Met T16073M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr22378Met T22378M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Arg14545Cys R14545C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg14670Cys R14670C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg14737Cys R14737C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg21042Cys R21042C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Cys13480Arg C13480R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Cys13605Arg C13605R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Cys13672Arg C13672R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Cys19977Arg C19977R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ser13350Thr S13350T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Ser13475Thr S13475T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Ser13542Thr S13542T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Ser19847Thr S19847T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Cys13293Tyr C13293Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Cys13418Tyr C13418Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Cys13485Tyr C13485Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Cys19790Tyr C19790Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser12829Gly S12829G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser12954Gly S12954G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser13021Gly S13021G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser19326Gly S19326G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Arg12279Stop R12279X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg12404Stop R12404X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg12471Stop R12471X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg18776Stop R18776X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Ser11621Pro S11621P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser11746Pro S11746P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser11813Pro S11813P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser18118Pro S18118P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser11350Gly S11350G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser11475Gly S11475G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser11542Gly S11542G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser17847Gly S17847G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Met10040Thr M10040T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Met10165Thr M10165T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Met10232Thr M10232T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Met16537Thr M16537T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr16260Pro T16260P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Thr9763Pro T9763P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Thr9888Pro T9888P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Thr9955Pro T9955P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Lys15140Ile K15140I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303832 163 9718 0.016773 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Lys8643Ile K8643I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Lys8768Ile K8768I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Lys8835Ile K8835I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Arg13163Cys R13163C not reviewed Insufficiently evaluated not reviewed unknown Array 22 9900 0.00222222 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg6666Cys R6666C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg6791Cys R6791C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg6858Cys R6858C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ile12472Met I12472M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9540 0.000104821 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile5975Met I5975M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile6100Met I6100M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ile6167Met I6167M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Lys11752Glu K11752E not reviewed Insufficiently evaluated not reviewed unknown Array rs6723526 769 9560 0.0804393 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Lys5255Glu K5255E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys5380Glu K5380E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys5447Glu K5447E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN His11456Arg H11456R not reviewed Insufficiently evaluated not reviewed unknown Array rs2288563 163 9546 0.0170752 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His4959Arg H4959R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His5084Arg H5084R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His5151Arg H5151R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg9852His R9852H not reviewed Insufficiently evaluated not reviewed unknown Array rs36051007 2118 9442 0.224317 12 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TTN Pro9673Leu P9673L not reviewed Insufficiently evaluated not reviewed unknown Array 31 9454 0.00327903 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro9631Leu P9631L not reviewed Insufficiently evaluated not reviewed unknown Array 42 9542 0.00440159 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Gly9378Arg G9378R not reviewed Insufficiently evaluated not reviewed unknown Array rs2244492 4148 9618 0.431275 38 0 54 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - TTN Ile9278Val I9278V not reviewed Insufficiently evaluated not reviewed unknown Array rs2042995 3093 9410 0.328693 35 0 49 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Glu9125Asp E9125D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Asn7559Ser N7559S not reviewed Insufficiently evaluated not reviewed unknown Array rs12693164 1486 9712 0.153007 21 0 25 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Gln7298His Q7298H not reviewed Insufficiently evaluated not reviewed unknown Array rs2562832 169 9796 0.0172519 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ser7181Asn S7181N not reviewed Insufficiently evaluated not reviewed unknown Array rs13390491 1504 9706 0.154956 21 0 25 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Ala7111Glu A7111E not reviewed Insufficiently evaluated not reviewed unknown Array rs2627043 2573 9594 0.268188 33 0 42 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Glu6900Ala E6900A not reviewed Insufficiently evaluated not reviewed unknown Array rs16866465 1503 10040 0.149701 20 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Asp6352His D6352H not reviewed Insufficiently evaluated not reviewed unknown Array rs72648970 272 9840 0.0276423 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Asp6218His D6218H not reviewed Insufficiently evaluated not reviewed unknown Array rs12693166 1513 9636 0.157015 20 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Ala5878Thr A5878T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10148 0.000591249 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Pro5140Thr P5140T not reviewed Insufficiently evaluated not reviewed unknown Array 13 9696 0.00134076 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Lys4865Glu K4865E not reviewed Insufficiently evaluated not reviewed unknown Array 8 9614 0.000832119 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ala4753Thr A4753T not reviewed Insufficiently evaluated not reviewed unknown Array 66 9866 0.00668964 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg3598Lys R3598K not reviewed Insufficiently evaluated not reviewed unknown Array rs2742347 981 9886 0.0992312 11 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - TTN Leu4237Phe L4237F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu4362Phe L4362F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu4429Phe L4429F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Thr4169Pro T4169P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Thr4294Pro T4294P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Thr4361Pro T4361P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Pro3627Leu P3627L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro3752Leu P3752L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro3819Leu P3819L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro3445Ser P3445S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro3570Ser P3570S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Pro3637Ser P3637S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser5503Thr S5503T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Val5478Met V5478M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg5192Lys R5192K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg5139Met R5139M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Arg4915His R4915H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN His4660Gln H4660Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Met4621Ile M4621I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Val4389Ile V4389I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Asp3747Gly D3747G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Leu3732Phe L3732F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gly3580Asp G3580D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Ala3405Thr A3405T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ser3373Asn S3373N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser3419Asn S3419N not reviewed Insufficiently evaluated not reviewed unknown Array rs2291310 9671 10758 0.898959 53 0 95 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Val3215Met V3215M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val3261Met V3261M not reviewed Insufficiently evaluated not reviewed unknown Array rs2291311 9605 10758 0.892824 54 0 96 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Asn2980Ile N2980I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Asn3026Ile N3026I not reviewed Insufficiently evaluated not reviewed unknown Array rs11900987 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ser2785Asn S2785N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser2831Asn S2831N not reviewed Insufficiently evaluated not reviewed unknown Array rs2306636 384 10758 0.0356944 4 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val2777Phe V2777F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Val2823Phe V2823F not reviewed Insufficiently evaluated not reviewed unknown Array rs33917087 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Met2564Ile M2564I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Met2610Ile M2610I not reviewed Insufficiently evaluated not reviewed unknown Array rs56142888 366 10752 0.0340402 4 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN His2183Tyr H2183Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN His2229Tyr H2229Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56851316 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Pro1698Leu P1698L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro1744Leu P1744L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Thr1534Met T1534M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr1580Met T1580M not reviewed Insufficiently evaluated not reviewed unknown Array rs73973147 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Arg1526Gln R1526Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - Y - - Y Y 0 - 4 N - - TTN Arg1572Gln R1572Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12476289 366 10758 0.0340212 4 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg1370Cys R1370C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg1416Cys R1416C not reviewed Insufficiently evaluated not reviewed unknown Array rs72647875 195 10756 0.0181294 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ile1347Val I1347V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile1393Val I1393V not reviewed Insufficiently evaluated not reviewed unknown Array rs16866531 478 10758 0.0444321 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ser1249Leu S1249L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser1295Leu S1295L not reviewed Insufficiently evaluated not reviewed unknown Array rs1552280 10211 10754 0.949507 51 0 95 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - TTN Asp1186Asn D1186N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Asp1232Asn D1232N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Lys1155Glu K1155E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys1201Glu K1201E not reviewed Insufficiently evaluated not reviewed unknown Array rs10497520 7868 10758 0.731363 41 0 66 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Thr765Ile T765I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Thr811Ile T811I not reviewed Insufficiently evaluated not reviewed unknown Array rs35813871 1997 10758 0.185629 11 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Trp345Stop W345X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg328Cys R328C not reviewed Insufficiently evaluated not reviewed unknown Array rs16866538 952 10758 0.0884923 15 0 21 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - TTPAL Ala278Gly A278G not reviewed Insufficiently evaluated not reviewed unknown Array rs59069332 257 10758 0.0238892 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.827 - - 1 - 1 N - - TTR Gly26Ser G26S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800458 604 10758 0.0561443 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 9 - - TTR Thr139Met T139M protective Low clinical importance, Uncertain protective dominant Array rs28933981 26 10758 0.00241681 1 0 1 2 2 ! Y 1 Y 0 Y 0 Y 4 Y 1 - Y - - - 1.0 Y Y 2 - 5 Y 0 0 This variant is reported to have a protective effect in carriers of the V30M variant in this gene -- V30M causes familial amyloidosis, but this variant appears to protect against that pathogenic effect. TTRAP Gln249Glu Q249E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTYH2 Leu138Val L138V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.617 - - 0 - 1 N - - TTYH2 Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array rs62621376 2904 10758 0.269939 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TTYH2 Ala262Thr A262T not reviewed Insufficiently evaluated not reviewed unknown Array rs35682745 1503 10758 0.13971 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TTYH2 Ser265Ala S265A not reviewed Insufficiently evaluated not reviewed unknown Array rs35999669 4944 10758 0.459565 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TTYH2 Trp414Stop W414X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTYH2 Trp93Stop W93X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTYH2 Thr419Ile T419I not reviewed Insufficiently evaluated not reviewed unknown Array rs12600564 1206 10758 0.112103 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TTYH2 Thr98Ile T98I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTYH2 Asp102Glu D102E not reviewed Insufficiently evaluated not reviewed unknown Array rs9899862 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTYH2 Asp423Glu D423E not reviewed Insufficiently evaluated not reviewed unknown Array rs9899862 2640 10758 0.245399 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.088 - - -2 - 0 N - - TTYH2 Gln210His Q210H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTYH2 Gln531His Q531H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TUB Lys308Arg K308R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.242 - - -3 - 1 N - - TUB Lys363Arg K363R not reviewed Insufficiently evaluated not reviewed unknown Array rs55892969 236 10758 0.0219372 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TUBA1A Glu443Stop E443X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - TUBA3C Val440Met V440M not reviewed Insufficiently evaluated not reviewed unknown Array rs1803092 481 10758 0.0447109 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBA3C Asn293Ser N293S not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBA3D Ala126Val A126V not reviewed Insufficiently evaluated not reviewed unknown Array 1726 10758 0.160439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TUBA3D Asp392Val D392V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TUBA3D Glu429Ala E429A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUBA3E Ala449Glu A449E not reviewed Insufficiently evaluated not reviewed unknown Array rs10208844 10190 10752 0.947731 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TUBA3E Trp402Arg W402R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052422 1741 10746 0.162014 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TUBA3E Met398Val M398V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - TUBA3E Arg264Gly R264G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TUBA3E Arg221Ser R221S not reviewed Insufficiently evaluated not reviewed unknown Array rs13000249 2460 10750 0.228837 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.855 - - 3 - 1 N - - TUBA3E Arg156Trp R156W not reviewed Insufficiently evaluated not reviewed unknown Array rs62165074 4034 10754 0.375116 33 0 41 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - TUBA3E Ala126Val A126V not reviewed Insufficiently evaluated not reviewed unknown Array rs13000721 1290 10686 0.120719 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TUBA8 Pro359Leu P359L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.822 - - 7 Y 1 N - - TUBAL3 Lys333Arg K333R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.526 - - -3 - 1 N - - TUBB1 Gln43Pro Q43P not reviewed Insufficiently evaluated not reviewed unknown Array rs463312 403 10758 0.0374605 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.877 - - 4 Y 2 N - - TUBB1 Gln43His Q43H not reviewed Insufficiently evaluated not reviewed unknown Array rs415064 404 10758 0.0375534 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.596 - - -1 - 1 N - - TUBB1 Gly109Glu G109E not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - TUBB1 Arg307His R307H not reviewed Insufficiently evaluated not reviewed unknown Array rs6070697 1678 10756 0.156006 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TUBB2A Ala185Thr A185T not reviewed Insufficiently evaluated not reviewed unknown Array 444 10756 0.0412793 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - TUBB2B Cys201Ser C201S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.379 Y - 3 - 2 N - - TUBB2C Arg162Ser R162S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - TUBB4Q Arg348His R348H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TUBB4Q Val344Ala V344A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBB4Q Pro308Leu P308L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TUBB4Q His254Arg H254R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TUBB4Q Val240Ala V240A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBB4Q His232Arg H232R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TUBB4Q Leu200Pro L200P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TUBB4Q Arg176Gly R176G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUBB4Q Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TUBB4Q Val60Ala V60A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBB4Q Arg17Gly R17G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUBB4Q Cys4Arg C4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TUBD1 Met76Thr M76T not reviewed Insufficiently evaluated not reviewed unknown Array rs1292053 4859 10758 0.451664 43 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TUBG2 Ala379Asp A379D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - TUBG2 Met413Val M413V not reviewed Insufficiently evaluated not reviewed unknown Array rs1046097 5117 10758 0.475646 38 0 58 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TUBGCP2 Ala111Thr A111T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298121 494 10758 0.0459193 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TUBGCP5 Gln231His Q231H not reviewed Insufficiently evaluated not reviewed unknown Array rs73409389 584 10758 0.0542852 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TUBGCP6 Arg1763Trp R1763W not reviewed Insufficiently evaluated not reviewed unknown Array rs35381394 748 10300 0.0726214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 1 N - - TUBGCP6 Val1621Leu V1621L not reviewed Insufficiently evaluated not reviewed unknown Array rs4838864 10697 10754 0.9947 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TUBGCP6 Thr1377Ala T1377A not reviewed Insufficiently evaluated not reviewed unknown Array rs11703226 4913 10758 0.456683 30 0 40 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TUBGCP6 Ser1364Cys S1364C not reviewed Insufficiently evaluated not reviewed unknown Array rs5771107 1331 10758 0.123722 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - TUBGCP6 Asn1159Asp N1159D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.7 - - -1 - 1 N - - TUBGCP6 Ala884Val A884V not reviewed Insufficiently evaluated not reviewed unknown Array rs34455105 503 10754 0.0467733 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - 2 - 1 - 2 - - TUBGCP6 Leu567Ser L567S not reviewed Insufficiently evaluated not reviewed unknown Array rs4838865 8854 10758 0.823015 54 0 89 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - TUBGCP6 Tyr148Cys Y148C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TUBGCP6 Ile4Val I4V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736756 537 10758 0.0499163 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TUFT1 Val13Gly V13G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.566 - - 8 Y 1 N - - TUFT1 Gln18Arg Q18R not reviewed Insufficiently evaluated not reviewed unknown Array rs3828054 1428 10758 0.132738 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.529 - - 0 - 0 N - - TUFT1 Gly22Asp G22D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TUFT1 Gly47Asp G47D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 4 Y 0 N - - TUFT1 Glu44Lys E44K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TUFT1 Glu69Lys E69K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - TUFT1 Thr138Ile T138I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUFT1 Thr163Ile T163I not reviewed Insufficiently evaluated not reviewed unknown Array rs59820789 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TULP1 Lys261Asn K261N not reviewed Insufficiently evaluated not reviewed unknown Array rs2064318 9079 10758 0.84393 54 0 95 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 4 - - TULP1 Ile259Thr I259T not reviewed Insufficiently evaluated not reviewed unknown Array rs2064317 3936 10758 0.365867 32 0 36 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 2 - - TULP1 Thr67Arg T67R not reviewed Insufficiently evaluated not reviewed unknown Array rs7764472 9311 10288 0.905035 48 0 90 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 - 1 - - TULP2 Asp251Asn D251N not reviewed Insufficiently evaluated not reviewed unknown Array rs8112811 2100 10758 0.195204 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TULP2 Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array rs7260579 2012 10758 0.187024 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TULP3 Cys438Arg C438R not reviewed Insufficiently evaluated not reviewed unknown Array rs998814 799 3234 0.247062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TULP4 Arg1448Gln R1448Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10730 0.000279589 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUSC1 Ser208Ala S208A not reviewed Insufficiently evaluated not reviewed unknown Array rs72631815 1803 9584 0.188126 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.195 - - -1 - 0 N - - TUSC1 Asn123Asp N123D not reviewed Insufficiently evaluated not reviewed unknown Array rs34498078 8700 9086 0.957517 8 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TUSC5 Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array 628 9966 0.0630142 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TUSC5 Phe20Ser F20S not reviewed Insufficiently evaluated not reviewed unknown Array rs6502774 7917 9972 0.793923 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TUSC5 Ser57Gly S57G not reviewed Insufficiently evaluated not reviewed unknown Array rs6502776 7308 9892 0.738779 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TUSC5 Ile106Thr I106T not reviewed Insufficiently evaluated not reviewed unknown Array rs72816260 51 9892 0.00515568 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUSC5 Val116Ile V116I not reviewed Insufficiently evaluated not reviewed unknown Array 10 9872 0.00101296 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - TUT1 Asp725Glu D725E not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TUT1 Asp43Gly D43G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TWF2 Thr10Met T10M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TWIST1 Leu168Met L168M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TXK Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array rs7658300 2881 10758 0.267801 23 0 24 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TXLNA Ser514Arg S514R not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TXLNA Pro541Ser P541S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - TXLNB Ala602Pro A602P not reviewed Insufficiently evaluated not reviewed unknown Array rs9495391 5604 10758 0.520915 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TXLNB Pro594Leu P594L not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - TXLNB Leu398Met L398M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - -3 - 0 N - - TXLNB Thr361Ala T361A not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - TXLNB Val348Met V348M not reviewed Insufficiently evaluated not reviewed unknown Array rs17068451 2870 10758 0.266778 24 0 32 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TXLNB Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array rs9321712 681 10758 0.0633017 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TXN2 Arg50Trp R50W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - TXNDC11 Val756Leu V756L not reviewed Insufficiently evaluated not reviewed unknown Array rs3190321 5440 10758 0.50567 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TXNDC11 His433Gln H433Q not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TXNDC11 Pro27Ser P27S not reviewed Insufficiently evaluated not reviewed unknown Array rs3743588 780 5290 0.147448 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TXNDC12 Thr80Met T80M not reviewed Insufficiently evaluated not reviewed unknown Array 151 10756 0.0140387 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.617 - - 2 - 1 N - - TXNDC12 Thr10Ser T10S not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TXNDC15 Val175Leu V175L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - TXNDC16 Glu481Lys E481K not reviewed Insufficiently evaluated not reviewed unknown Array rs7155490 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXNDC16 Glu486Lys E486K not reviewed Insufficiently evaluated not reviewed unknown Array rs7155490 1924 10758 0.178844 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TXNDC16 Ala419Thr A419T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC16 Ala424Thr A424T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 1 - 0 N - - TXNDC16 Asn147Tyr N147Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TXNDC16 Asn152Tyr N152Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28593180 431 10746 0.0401079 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.95 - - 5 Y 2 N - - TXNDC16 Ser136Asn S136N not reviewed Insufficiently evaluated not reviewed unknown Array rs28759013 420 10726 0.0391572 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXNDC2 Asp133Val D133V not reviewed Insufficiently evaluated not reviewed unknown Array 337 10758 0.0313255 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - TXNDC2 Asp66Val D66V not reviewed Insufficiently evaluated not reviewed unknown Array rs7244020 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TXNDC2 Pro104Leu P104L not reviewed Insufficiently evaluated not reviewed unknown Array rs34812912 7 128 0.0546875 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TXNDC2 Pro171Leu P171L not reviewed Insufficiently evaluated not reviewed unknown Array 695 10758 0.0646031 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 7 Y 1 N - - TXNDC2 Ala158Pro A158P not reviewed Insufficiently evaluated not reviewed unknown Array rs11662946 5 120 0.0416667 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TXNDC2 Ala225Pro A225P not reviewed Insufficiently evaluated not reviewed unknown Array 724 10758 0.0672988 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.163 - - 2 - 0 N - - TXNDC2 Pro251Leu P251L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TXNDC2 Pro318Leu P318L not reviewed Insufficiently evaluated not reviewed unknown Array 2044 10754 0.190069 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 7 Y 0 N - - TXNDC2 Glu274Lys E274K not reviewed Insufficiently evaluated not reviewed unknown Array rs11081510 87 116 0.75 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TXNDC2 Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array rs11081510 7673 10758 0.713237 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - TXNDC2 Gly290Asp G290D not reviewed Insufficiently evaluated not reviewed unknown Array rs2240906 51 118 0.432203 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TXNDC2 Gly357Asp G357D not reviewed Insufficiently evaluated not reviewed unknown Array rs2240906 4333 10758 0.40277 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TXNDC2 Lys318Glu K318E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXNDC2 Lys385Glu K385E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TXNDC2 Ala399Thr A399T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC2 Ala466Thr A466T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.573 - - 1 - 1 N - - TXNDC2 Arg420Thr R420T not reviewed Insufficiently evaluated not reviewed unknown Array rs17805544 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TXNDC2 Arg487Thr R487T not reviewed Insufficiently evaluated not reviewed unknown Array 1062 10758 0.0987172 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 3 - 0 N - - TXNDC3 Arg43Lys R43K not reviewed Insufficiently evaluated not reviewed unknown Array rs2722372 3078 10758 0.286113 29 0 31 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 - 1 - - TXNDC3 Cys208Arg C208R not reviewed Insufficiently evaluated not reviewed unknown Array rs10250905 8470 10758 0.787321 49 0 79 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 - 1 - - TXNDC3 Arg336His R336H not reviewed Insufficiently evaluated not reviewed unknown Array rs62001869 291 10748 0.0270748 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.214 - Y 1 - 2 N - - TXNDC3 Ile338Thr I338T benign Low clinical importance, Uncertain benign unknown Array rs62001870 406 10752 0.0377604 4 0 5 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.999 - Y 3 - 3 N 0 0 Tentatively classified as benign, but predicted to be damaging and other variants in this gene are implicated in causing primary ciliary dyskinesia (situs inversus, chronic sinusitis, and bronchiectasis). TXNDC3 Ile493Thr I493T not reviewed Insufficiently evaluated not reviewed unknown Array rs56128139 71 10754 0.00660219 19 0 19 0 0 - - - - - - - - - - - - Y - - - 0.074 - Y 3 - 1 N - - TXNDC5 Val182Met V182M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXNDC5 Val290Met V290M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - TXNDC5 Tyr143His Y143H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TXNDC5 Tyr251His Y251H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - TXNDC5 Val203Ile V203I not reviewed Insufficiently evaluated not reviewed unknown Array rs58711083 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - TXNDC5 Val95Ile V95I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNDC8 Asn60His N60H not reviewed Insufficiently evaluated not reviewed unknown Array rs7041938 1085 10746 0.100968 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 1 N - - TXNDC8 Gly19Arg G19R not reviewed Insufficiently evaluated not reviewed unknown Array 658 10758 0.0611638 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 1 N - - TXNDC9 His139Arg H139R not reviewed Insufficiently evaluated not reviewed unknown Array rs11542367 328 10758 0.0304889 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNL1 Met31Val M31V not reviewed Insufficiently evaluated not reviewed unknown Array rs73499357 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - TXNRD2 Ile370Thr I370T not reviewed Insufficiently evaluated not reviewed unknown Array rs1139793 8165 10200 0.80049 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TXNRD2 Ser299Arg S299R not reviewed Insufficiently evaluated not reviewed unknown Array rs5992495 2856 10586 0.26979 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TXNRD2 Glu176Gln E176Q not reviewed Insufficiently evaluated not reviewed unknown Array 217 10112 0.0214597 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TXNRD2 Ala66Ser A66S not reviewed Insufficiently evaluated not reviewed unknown Array rs5748469 3087 10346 0.298376 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TYK2 Val981Leu V981L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - TYK2 Val603Glu V603E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 5 Y 2 N - - TYK2 Arg549Cys R549C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - TYK2 Val362Phe V362F not reviewed Insufficiently evaluated not reviewed unknown Array rs2304256 2421 10758 0.225042 16 0 20 0 0 - - - - - - - - - - - - - - Y - 0.003 - - 3 - 1 N - - TYK2 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.242 - - 1 - 1 N - - TYMP Ser471Leu S471L not reviewed Insufficiently evaluated not reviewed unknown Array rs11479 704 10240 0.06875 2 0 2 3 1 - - - - - - - - - - - - Y - - - 0.961 Y Y 6 Y 3 N - - TYR Ser192Tyr S192Y benign Low clinical importance, Uncertain benign unknown Array rs1042602 2912 10758 0.270682 31 0 38 2 2 2 Y - - 5 Y 0 - - - - - Y Y Y Y 0.919 Y Y 5 Y 5 N 8 0 0 This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3). TYR Arg402Gln R402Q benign Low clinical importance, benign other Array rs1126809 2205 10758 0.204964 10 0 11 7 7 1 Y 2 Y 5 Y - - - - - - Y Y - Y 0.997 Y Y 0 - 5 Y 0 2 This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene. TYRO3 Ile346Asn I346N not reviewed Insufficiently evaluated not reviewed unknown Array rs12148316 2519 10758 0.234151 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.17 - - 7 Y 0 N - - TYRO3 Val669Leu V669L not reviewed Insufficiently evaluated not reviewed unknown Array 789 10758 0.0733408 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 1 N - - TYROBP Val55Leu V55L not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TYROBP Arg23His R23H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 2 N - - TYRP1 Arg505Cys R505C not reviewed Insufficiently evaluated not reviewed unknown Array rs41303651 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.568 Y - 8 Y 3 - 1 - - TYSND1 Pro203Leu P203L not reviewed Insufficiently evaluated not reviewed unknown Array rs11549689 323 10606 0.0304545 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - TYSND1 Leu188Pro L188P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10728 0.000559284 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TYSND1 Thr65Ala T65A not reviewed Insufficiently evaluated not reviewed unknown Array rs4746970 2997 9300 0.322258 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - TYW1 His632Arg H632R not reviewed Insufficiently evaluated not reviewed unknown Array rs2949097 1081 10750 0.100558 11 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - TYW1 Asp671Asn D671N not reviewed Insufficiently evaluated not reviewed unknown Array 2993 10710 0.279458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - TYW1B Arg607Gln R607Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TYW1B Thr238Asn T238N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TYW1B Thr400Asn T400N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TYW1B Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TYW1B Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TYW1B Val62Gly V62G not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TYW3 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11538281 384 10758 0.0356944 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - TYW3 Met121Val M121V not reviewed Insufficiently evaluated not reviewed unknown Array rs1133891 1623 10758 0.150864 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - U2AF1 Trp134Cys W134C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - U2AF1 Trp61Cys W61C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UACA Ile801Thr I801T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - UACA Ile814Thr I814T not reviewed Insufficiently evaluated not reviewed unknown Array rs3743315 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - UACA Gln445His Q445H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UACA Gln458His Q458H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - UACA Ala391Val A391V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UACA Ala404Val A404V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UACA Asn312Ser N312S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UACA Asn325Ser N325S not reviewed Insufficiently evaluated not reviewed unknown Array rs61746365 258 10752 0.0239955 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - UAP1 Ser479Gly S479G not reviewed Insufficiently evaluated not reviewed unknown Array rs12091021 184 10756 0.0171067 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UAP1L1 Ala319Val A319V not reviewed Insufficiently evaluated not reviewed unknown Array rs7037849 4465 10758 0.41504 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - UBA1 Arg447His R447H not reviewed Insufficiently evaluated not reviewed unknown Array rs2070169 1083 8761 0.123616 14 0 20 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - UBA2 Asn599Asp N599D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - UBA3 Gly67Arg G67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBA3 Gly81Arg G81R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - UBA5 Ala172Val A172V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - UBA5 Ala228Val A228V not reviewed Insufficiently evaluated not reviewed unknown Array rs35064843 186 10758 0.0172895 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 1 - 1 - - UBA6 Val1013Leu V1013L not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - UBA6 Asn750Thr N750T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - 1 - 0 N - - UBA6 Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array rs10010188 1612 10756 0.14987 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - UBA7 Pro712Ser P712S not reviewed Insufficiently evaluated not reviewed unknown Array rs11928913 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - UBAP2 Met762Ile M762I not reviewed Insufficiently evaluated not reviewed unknown Array rs16935295 368 10758 0.0342071 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBAP2 Ala756Val A756V not reviewed Insufficiently evaluated not reviewed unknown Array rs307692 10724 10758 0.99684 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UBAP2 Asn606Ser N606S not reviewed Insufficiently evaluated not reviewed unknown Array rs307658 4438 10758 0.41253 38 0 48 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - UBAP2 Val160Ala V160A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.156 - - 2 - 0 N - - UBAP2 Asn135Thr N135T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 1 - 0 N - - UBAP2 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1785506 6323 10758 0.587749 45 0 62 0 0 - - - - - - - - - - - - - - - - 0.353 - - 0 - 0 N - - UBAP2L Arg712Pro R712P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UBASH3A Ser18Gly S18G not reviewed Insufficiently evaluated not reviewed unknown Array rs2277798 6505 10384 0.626445 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UBASH3A Asp263Asn D263N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBASH3A Asp301Asn D301N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - UBASH3A Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13048049 535 10758 0.0497304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBASH3A Arg324Gln R324Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.426 - - 0 - 1 N - - UBASH3A Gly563Arg G563R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBASH3A Gly601Arg G601R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - UBASH3B Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array rs12790613 2569 10758 0.238799 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.609 - - 1 - 0 N - - UBASH3B Thr341Met T341M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - UBASH3B Gly380Ser G380S not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBASH3B Asn569Ser N569S not reviewed Insufficiently evaluated not reviewed unknown Array rs35343548 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - UBC Ser190Pro S190P not reviewed Insufficiently evaluated not reviewed unknown Array rs7137123 104 104 1 46 0 92 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBD Cys162Phe C162F not reviewed Insufficiently evaluated not reviewed unknown Array rs7757931 1444 7524 0.191919 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - UBD Cys160Ser C160S not reviewed Insufficiently evaluated not reviewed unknown Array rs8337 6114 7522 0.812816 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBD Ala99Gly A99G not reviewed Insufficiently evaluated not reviewed unknown Array rs2076487 1456 7524 0.193514 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UBD Ser95Pro S95P not reviewed Insufficiently evaluated not reviewed unknown Array rs2076486 1455 7524 0.193381 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - UBD Ile68Thr I68T not reviewed Insufficiently evaluated not reviewed unknown Array rs2076485 1376 7524 0.182881 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - UBD Leu51Ser L51S not reviewed Insufficiently evaluated not reviewed unknown Array rs2076484 1455 7524 0.193381 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.418 - - 6 Y 0 N - - UBE2C Ser23Arg S23R not reviewed Insufficiently evaluated not reviewed unknown Array rs11537645 25 9900 0.00252525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 2 - 3 - - UBE2CBP Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array rs7739323 1727 10758 0.160532 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UBE2E1 Glu25Asp E25D not reviewed Insufficiently evaluated not reviewed unknown Array rs36060625 487 10758 0.0452686 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - UBE2G2 Tyr103Asp Y103D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - UBE2G2 Tyr75Asp Y75D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBE2J1 Leu229Val L229V not reviewed Insufficiently evaluated not reviewed unknown Array rs10502 5701 10758 0.529931 47 0 74 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UBE2L6 Phe57Ser F57S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - UBE2NL Ile23Met I23M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.564 - - -1 - 1 N - - UBE2NL Thr52Ser T52S not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UBE2NL Leu89Stop L89X not reviewed Insufficiently evaluated not reviewed unknown Array rs237520 5839 8761 0.666476 35 0 59 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - UBE2O Gly1207Ser G1207S not reviewed Insufficiently evaluated not reviewed unknown Array rs3803739 4848 10758 0.450641 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UBE2O Ala1150Thr A1150T not reviewed Insufficiently evaluated not reviewed unknown Array rs34070229 112 10754 0.0104147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBE2O Pro7His P7H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UBE2Q2 Gln42Stop Q42X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBE2Q2 Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBE2U Ile90Thr I90T not reviewed Insufficiently evaluated not reviewed unknown Array rs7532933 375 10758 0.0348578 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - UBE3A Gln531Stop Q531X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - UBE3A Gln551Stop Q551X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - UBE3A Gln554Stop Q554X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - UBE3A Glu392Stop E392X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - UBE3A Glu412Stop E412X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - UBE3A Glu415Stop E415X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - UBE3B Ser280Pro S280P not reviewed Insufficiently evaluated not reviewed unknown Array 239 10758 0.022216 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBE3B Arg346Gln R346Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7298565 6478 10758 0.602157 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UBE4B Leu442Phe L442F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBE4B Leu571Phe L571F not reviewed Insufficiently evaluated not reviewed unknown Array rs61760196 367 10758 0.0341141 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBE4B Val476Ile V476I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - UBE4B Val605Ile V605I not reviewed Insufficiently evaluated not reviewed unknown Array rs17034499 393 10758 0.036531 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - UBFD1 Ala40Gly A40G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBFD1 Ala209Thr A209T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBN1 Tyr435Cys Y435C not reviewed Insufficiently evaluated not reviewed unknown Array rs35103368 242 10758 0.0224949 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - UBN1 Leu841Phe L841F not reviewed Insufficiently evaluated not reviewed unknown Array rs35575708 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBN2 Met402Val M402V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9812 0.000101916 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - UBN2 Thr1219Pro T1219P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 4 Y 0 N - - UBOX5 Leu425Pro L425P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - UBOX5 Leu479Pro L479P not reviewed Insufficiently evaluated not reviewed unknown Array rs34205880 776 10758 0.0721324 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 3 - - UBOX5 Thr96Met T96M not reviewed Insufficiently evaluated not reviewed unknown Array rs999409 219 10758 0.0203569 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.057 - - 2 - 1 - 4 - - UBP1 Asn109Ser N109S not reviewed Insufficiently evaluated not reviewed unknown Array rs3736563 3971 10756 0.369189 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UBQLN3 Arg624Gln R624Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2227271 3058 10758 0.284254 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.562 - - 0 - 0 N - - UBQLN3 Met546Thr M546T not reviewed Insufficiently evaluated not reviewed unknown Array rs2234455 1490 10758 0.138502 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - UBQLN3 Thr290Ser T290S not reviewed Insufficiently evaluated not reviewed unknown Array rs2234451 913 10758 0.0848671 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - UBQLN4 Ile495Met I495M not reviewed Insufficiently evaluated not reviewed unknown Array rs2297792 5905 10744 0.549609 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - UBQLNL Gln455Glu Q455E not reviewed Insufficiently evaluated not reviewed unknown Array rs12223282 382 10758 0.0355085 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.038 - - -2 - 0 N - - UBQLNL Trp379Gly W379G not reviewed Insufficiently evaluated not reviewed unknown Array rs393044 10511 10758 0.97704 54 0 103 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - UBQLNL Ala275Val A275V not reviewed Insufficiently evaluated not reviewed unknown Array rs2017433 6614 10758 0.614798 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UBQLNL Tyr274His Y274H not reviewed Insufficiently evaluated not reviewed unknown Array rs2017434 3207 10758 0.298104 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.966 - - -1 - 1 N - - UBQLNL Gly259Asp G259D not reviewed Insufficiently evaluated not reviewed unknown Array rs16932225 321 10758 0.0298383 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - UBQLNL Cys171Arg C171R not reviewed Insufficiently evaluated not reviewed unknown Array rs2047456 3124 10758 0.290389 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - UBQLNL Trp2Gly W2G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - UBR1 Thr1548Ala T1548A not reviewed Insufficiently evaluated not reviewed unknown Array rs3917223 580 10758 0.0539134 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - UBR1 Val815Ile V815I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - UBR1 Ser405Gly S405G not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - UBR1 Pro215Thr P215T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBR2 Glu172Asp E172D not reviewed Insufficiently evaluated not reviewed unknown Array rs6905054 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - UBR2 Pro1094His P1094H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - UBR2 Ala1095Thr A1095T not reviewed Insufficiently evaluated not reviewed unknown Array rs6917033 56 128 0.4375 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UBR2 Trp1177Stop W1177X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBR3 Leu1510Ile L1510I not reviewed Insufficiently evaluated not reviewed unknown Array 391 10758 0.036345 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - UBR4 Met4867Leu M4867L not reviewed Insufficiently evaluated not reviewed unknown Array rs12584 5991 10758 0.556888 48 0 66 0 0 - - - - - - - - - - - - - - - - 0.01 - - -3 - 0 N - - UBR4 Cys3687Trp C3687W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - UBR4 Arg1463His R1463H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - UBR4 Thr1107Ala T1107A not reviewed Insufficiently evaluated not reviewed unknown Array rs16862578 2105 10758 0.195668 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - UBR5 Leu1983Met L1983M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - -3 - 0 N - - UBR7 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array rs2286653 1094 10532 0.103874 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UBTFL1 Ile63Val I63V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UBTFL1 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBTFL2 Cys96Ser C96S not reviewed Insufficiently evaluated not reviewed unknown Array rs11018769 4 84 0.047619 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBTFL2 Asn88Ser N88S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBTFL2 Tyr40His Y40H not reviewed Insufficiently evaluated not reviewed unknown Array rs2846260 21 92 0.228261 12 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - UBXN10 Pro88Ser P88S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.773 - - 3 - 1 N - - UBXN11 Pro389Ser P389S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - UBXN11 Pro476Ser P476S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN11 Pro509Ser P509S not reviewed Insufficiently evaluated not reviewed unknown Array rs17838088 5548 9098 0.609804 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBXN11 Gly384Cys G384C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBXN11 Gly471Cys G471C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBXN11 Gly504Cys G504C not reviewed Insufficiently evaluated not reviewed unknown Array 1076 9064 0.118711 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - UBXN11 Pro381Ser P381S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN11 Pro468Ser P468S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN11 Pro501Ser P501S not reviewed Insufficiently evaluated not reviewed unknown Array rs61775089 2286 9016 0.253549 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBXN11 Gly370Ser G370S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBXN11 Gly457Ser G457S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBXN11 Gly490Ser G490S not reviewed Insufficiently evaluated not reviewed unknown Array 588 9468 0.0621039 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UBXN11 Cys366Ser C366S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN11 Cys453Ser C453S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN11 Cys486Ser C486S not reviewed Insufficiently evaluated not reviewed unknown Array rs72872911 1320 9564 0.138018 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBXN11 Ser322Gly S322G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBXN11 Ser409Gly S409G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBXN11 Ser442Gly S442G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - UBXN11 Leu192Arg L192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBXN11 Leu279Arg L279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBXN11 Leu312Arg L312R not reviewed Insufficiently evaluated not reviewed unknown Array rs4332350 9513 10350 0.91913 51 0 93 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - UBXN11 Glu132Gly E132G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UBXN11 Glu165Gly E165G not reviewed Insufficiently evaluated not reviewed unknown Array rs6695966 178 10268 0.0173354 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 3 - 2 - - UBXN11 Ala59Ser A59S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBXN11 Ala92Ser A92S not reviewed Insufficiently evaluated not reviewed unknown Array rs61750046 62 10176 0.00609277 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - UBXN6 Ala31Thr A31T not reviewed Insufficiently evaluated not reviewed unknown Array rs1127888 2359 10758 0.219279 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UBXN7 Lys462Glu K462E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.81 - - 0 - 1 N - - UBXN7 Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - UBXN8 Thr51Ile T51I not reviewed Insufficiently evaluated not reviewed unknown Array rs2911690 9430 9450 0.997884 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UCHL1 Ser18Tyr S18Y not reviewed Insufficiently evaluated not reviewed unknown Array rs5030732 1012 10274 0.0985011 6 0 6 0 0 - - - - - - - - - - - - Y Y - - 0.029 - Y 5 Y 3 N 10 - - UCHL5 Asn321Ser N321S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UCK1 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array rs2296957 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UCK1 Ala180Ser A180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 6 - - UCKL1 Trp508Gly W508G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UCMA Tyr133Asn Y133N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - UCMA Val101Met V101M not reviewed Insufficiently evaluated not reviewed unknown Array rs74123515 28 10756 0.0026032 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - UCN2 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - UCN3 Arg91Gly R91G not reviewed Insufficiently evaluated not reviewed unknown Array rs10904481 3303 10750 0.307256 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - UCP1 Met229Leu M229L not reviewed Insufficiently evaluated not reviewed unknown Array rs2270565 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - UCP1 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs45539933 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UCP2 Ala55Val A55V not reviewed Insufficiently evaluated not reviewed unknown Array rs660339 4526 10758 0.42071 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UCP3 Arg282Cys R282C not reviewed Insufficiently evaluated not reviewed unknown Array rs8179179 1 10758 9.2954e-05 1 0 1 2 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 Y - - UCP3 Ala111Val A111V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - UCP3 Val102Ile V102I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229707 445 10758 0.0413646 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - UCP3 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58614015 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 2 - 10 - - UCP3 Arg70Trp R70W pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 4 Y 1 Y 0 Y 1 - - - - - - Y - - 0.999 - - 7 Y 4 N 9 - - This variant was found in two Chinese individuals with severe obesity and diabetes. UCP3 Val9Met V9M not reviewed Insufficiently evaluated not reviewed unknown Array rs8179180 183 10758 0.0170106 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UEVLD Gly359Val G359V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - UEVLD Gly359Cys G359C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - UEVLD Met39Val M39V not reviewed Insufficiently evaluated not reviewed unknown Array rs61752314 505 10758 0.0469418 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - UFD1L Pro119Ala P119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UFD1L Pro130Ala P130A not reviewed Insufficiently evaluated not reviewed unknown Array rs17744624 360 10758 0.0334635 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.145 - - 2 - 0 N - - UFSP1 Leu47Val L47V not reviewed Insufficiently evaluated not reviewed unknown Array rs12666989 1469 10754 0.1366 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - UGCGL1 Asp480Tyr D480Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGCGL1 Asp504Tyr D504Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGCGL1 Glu782Gly E782G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UGCGL1 Glu806Gly E806G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UGCGL1 Glu958Asp E958D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UGCGL1 Glu982Asp E982D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UGCGL1 Asn1115Ser N1115S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGCGL1 Asn1139Ser N1139S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGCGL1 Lys1213Arg K1213R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UGCGL1 Lys1237Arg K1237R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UGCGL2 His1381Arg H1381R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UGCGL2 Tyr1285Phe Y1285F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - UGCGL2 Phe1274Leu F1274L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGCGL2 Met994Leu M994L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UGCGL2 Lys865Arg K865R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - UGCGL2 Ala821Thr A821T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UGCGL2 Ser328Ala S328A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGCGL2 Thr255Ala T255A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UGCGL2 Lys92Arg K92R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UGT1A1 Gly71Arg G71R pathogenic Moderate clinical importance, Likely pathogenic other Array 8 10758 0.000743632 0 0 0 2 1 1 Y 1 Y 4 Y - - 2 - 4 - Y Y - Y - Y - 6 Y 4 N 9 1 1 This variant, also known as UGT1A1*6, is associated with Gilbert syndrome (found in ~5% of the population) and transient hyperbilirubinemia in infants in east asian populations. This allele appears to have incomplete penetrance and causes reduced enzyme activity. UGT1A10 Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - UGT1A10 Leu244Ile L244I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - UGT1A3 Trp11Arg W11R not reviewed Insufficiently evaluated not reviewed unknown Array rs3821242 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT1A3 Val47Ala V47A not reviewed Insufficiently evaluated not reviewed unknown Array rs6431625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGT1A3 Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - UGT1A3 Met114Ile M114I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - UGT1A3 Thr144Ile T144I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - UGT1A3 Met270Val M270V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT1A4 Arg11Trp R11W not reviewed Insufficiently evaluated not reviewed unknown Array rs3892221 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 8 - - UGT1A4 Phe261Val F261V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - UGT1A5 Asp50Glu D50E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - UGT1A5 Gly259Arg G259R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - UGT1A6 Ser7Ala S7A not reviewed Insufficiently evaluated not reviewed unknown Array rs6759892 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT1A6 Thr181Ala T181A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UGT1A6 Arg184Ser R184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UGT1A7 Asn129Lys N129K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - UGT1A7 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT1A7 Trp208Arg W208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT1A7 Leu253Val L253V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT1A8 Ala173Gly A173G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 1 0 0 2 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - UGT1A8 Cys277Tyr C277Y pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 1 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 6 Y 2 N - - UGT1A9 Ser141Cys S141C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UGT2A1 Val476Ile V476I not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - -4 - 1 - 1 - - UGT2A1 Val391Ile V391I not reviewed Insufficiently evaluated not reviewed unknown Array rs4148304 1605 10758 0.149191 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - UGT2A1 Gly308Arg G308R not reviewed Insufficiently evaluated not reviewed unknown Array rs4148301 999 10758 0.0928611 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - UGT2A1 Leu197Ser L197S not reviewed Insufficiently evaluated not reviewed unknown Array rs41292307 1453 10756 0.135087 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.791 - - 6 Y 0 N - - UGT2A1 Tyr192Stop Y192X not reviewed Insufficiently evaluated not reviewed unknown Array 339 10756 0.0315173 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UGT2A1 Tyr188His Y188H not reviewed Insufficiently evaluated not reviewed unknown Array rs55864295 1456 10754 0.135391 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - UGT2A1 Arg75Lys R75K not reviewed Insufficiently evaluated not reviewed unknown Array rs1347046 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - UGT2A2 Val477Ile V477I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGT2A2 Val392Ile V392I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGT2A2 Gly309Arg G309R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UGT2A2 Ala58Val A58V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGT2A3 Ala497Thr A497T not reviewed Insufficiently evaluated not reviewed unknown Array rs13128286 8069 10758 0.750046 41 0 67 0 0 - - - - - - - - - - - - - - - - 0.418 - - 1 - 0 N - - UGT2B10 Asn397Asp N397D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT2B10 Asn481Asp N481D not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT2B11 Pro358Ser P358S not reviewed Insufficiently evaluated not reviewed unknown Array 246 10752 0.0228795 1 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - UGT2B11 Arg259Gln R259Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72551398 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - UGT2B11 Cys156Arg C156R not reviewed Insufficiently evaluated not reviewed unknown Array rs7697037 1630 10756 0.151543 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 1 N - - UGT2B11 Ser70Pro S70P not reviewed Insufficiently evaluated not reviewed unknown Array rs62298957 1578 10720 0.147201 14 0 20 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - UGT2B28 Ala346Thr A346T not reviewed Insufficiently evaluated not reviewed unknown Array 540 7470 0.0722892 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UGT2B28 Leu365His L365H not reviewed Insufficiently evaluated not reviewed unknown Array rs4235127 3932 10214 0.384962 22 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - UGT2B28 Ile447Arg I447R not reviewed Insufficiently evaluated not reviewed unknown Array rs6843900 4650 10302 0.451369 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - UGT2B28 His458Asp H458D not reviewed Insufficiently evaluated not reviewed unknown Array rs6828191 4756 10332 0.460317 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UGT2B4 Asp458Glu D458E not reviewed Insufficiently evaluated not reviewed unknown Array rs67904882 2162 10758 0.200967 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.273 - - -2 - 0 N - - UGT2B7 Tyr268His Y268H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7438284 2230 10756 0.207326 41 0 40 1 1 - - - - - - - - - - - - - - - Y - - - -1 - 1 N - - UGT3A1 Cys121Gly C121G not reviewed Insufficiently evaluated not reviewed unknown Array rs3756669 1114 10746 0.103666 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - UGT8 Pro226Leu P226L not reviewed Insufficiently evaluated not reviewed unknown Array rs4148254 264 10758 0.0245399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 5 - - UGT8 Ile368Met I368M not reviewed Insufficiently evaluated not reviewed unknown Array rs11098261 10595 10758 0.984848 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - UHMK1 Glu17Lys E17K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.095 - - 0 - 0 N - - UHRF1 Ala11Ser A11S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UHRF1 Ala638Thr A638T not reviewed Insufficiently evaluated not reviewed unknown Array rs17883331 1503 10142 0.148196 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 4 - - UHRF1 Ala651Thr A651T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - UHRF1BP1 Gly152Val G152V not reviewed Insufficiently evaluated not reviewed unknown Array rs35356162 6 10012 0.00059928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - UHRF1BP1 Lys404Asn K404N not reviewed Insufficiently evaluated not reviewed unknown Array rs16894945 530 10014 0.0529259 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.305 - - 1 - 0 N - - UHRF1BP1 Gln454Arg Q454R not reviewed Insufficiently evaluated not reviewed unknown Array rs11755393 4386 9838 0.445822 43 0 60 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UHRF1BP1 Lys854Glu K854E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 1 - 2 - - UHRF1BP1 Glu930Gln E930Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61732793 332 9998 0.0332066 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - UHRF1BP1 Gln984His Q984H not reviewed Insufficiently evaluated not reviewed unknown Array rs9469913 2355 10158 0.231837 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 0 N - - UHRF1BP1 Met1098Thr M1098T not reviewed Insufficiently evaluated not reviewed unknown Array rs13205210 1366 10056 0.135839 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 1 N - - UHRF1BP1L Met1111Leu M1111L not reviewed Insufficiently evaluated not reviewed unknown Array rs58214704 744 10758 0.0691578 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - UHRF1BP1L Ile1010Val I1010V not reviewed Insufficiently evaluated not reviewed unknown Array rs60592197 686 10740 0.0638734 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - UHRF1BP1L Asp998Gly D998G not reviewed Insufficiently evaluated not reviewed unknown Array 74 10736 0.0068927 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - UHRF1BP1L Phe905Ile F905I not reviewed Insufficiently evaluated not reviewed unknown Array 121 10744 0.0112621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UHRF1BP1L Asn617His N617H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - UIMC1 Cys511Arg C511R not reviewed Insufficiently evaluated not reviewed unknown Array rs13360277 1684 10758 0.156535 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - UIMC1 Pro435Leu P435L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733876 1381 10758 0.12837 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - UIMC1 Arg15Trp R15W not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 1 - 3 - - ULBP1 Gly26Glu G26E not reviewed Insufficiently evaluated not reviewed unknown Array rs61742424 277 10758 0.0257483 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - ULBP1 Asn144Ser N144S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.327 - - 0 - 1 N - - ULBP1 Arg176Lys R176K not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - ULBP2 Ala2Pro A2P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - ULBP2 Lys8Gln K8Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - -2 - 1 N - - ULBP2 Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 623 9600 0.0648958 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 3 - 1 N - - ULBP2 Thr114Ile T114I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ULBP2 Gly137Arg G137R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ULBP2 Ile237Leu I237L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10480 0.00610687 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - ULBP3 Glu110Stop E110X not reviewed Insufficiently evaluated not reviewed unknown Array rs34672740 198 10758 0.0184049 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ULBP3 Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array 871 10730 0.0811743 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ULBP3 Tyr18Stop Y18X not reviewed Insufficiently evaluated not reviewed unknown Array rs72501734 45 10750 0.00418605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ULK1 Pro478Leu P478L not reviewed Insufficiently evaluated not reviewed unknown Array rs12827141 67 10712 0.00625467 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.571 - - 7 Y 2 - 3 - - ULK1 Pro714Leu P714L not reviewed Insufficiently evaluated not reviewed unknown Array rs11546871 2521 10714 0.2353 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ULK1 Thr816Ala T816A not reviewed Insufficiently evaluated not reviewed unknown Array rs11609348 10548 10652 0.990237 31 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ULK1 Ala991Val A991V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - ULK2 Gly752Arg G752R not reviewed Insufficiently evaluated not reviewed unknown Array rs55730189 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - ULK2 Val370Met V370M not reviewed Insufficiently evaluated not reviewed unknown Array rs150122 10394 10758 0.966165 44 0 80 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ULK3 Lys445Arg K445R not reviewed Insufficiently evaluated not reviewed unknown Array rs12898397 4644 10356 0.448436 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ULK3 Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array rs34945944 290 10504 0.0276085 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ULK4 Lys1098Glu K1098E not reviewed Insufficiently evaluated not reviewed unknown Array 63 10076 0.00625248 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - ULK4 Val851Ile V851I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744388 2610 9878 0.264224 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ULK4 Leu844Met L844M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744385 2632 9974 0.263886 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ULK4 Ala715Thr A715T not reviewed Insufficiently evaluated not reviewed unknown Array rs17215589 1206 9828 0.122711 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ULK4 Ser640Ala S640A not reviewed Insufficiently evaluated not reviewed unknown Array rs4973986 8458 9598 0.881225 51 0 93 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ULK4 Leu603Ser L603S not reviewed Insufficiently evaluated not reviewed unknown Array rs17063572 702 9726 0.0721777 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ULK4 Arg596Lys R596K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.555 - - -3 - 1 N - - ULK4 Lys569Arg K569R not reviewed Insufficiently evaluated not reviewed unknown Array rs3774372 1711 9526 0.179614 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.236 - - -3 - 0 N - - ULK4 Ala542Thr A542T not reviewed Insufficiently evaluated not reviewed unknown Array rs1052501 6656 9734 0.683789 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ULK4 Val494Leu V494L not reviewed Insufficiently evaluated not reviewed unknown Array rs72864585 13 9856 0.00131899 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - ULK4 Ser417Pro S417P not reviewed Insufficiently evaluated not reviewed unknown Array 10 9736 0.00102712 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 3 - 2 - - ULK4 Ser348Gly S348G not reviewed Insufficiently evaluated not reviewed unknown Array rs35263917 1216 9536 0.127517 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.773 - - 2 - 0 N - - ULK4 Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array rs1716975 6408 9480 0.675949 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ULK4 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array rs2272007 6592 9708 0.679028 42 0 66 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - UMOD Val458Leu V458L not reviewed Insufficiently evaluated not reviewed unknown Array rs55772253 180 10758 0.0167317 3 0 3 0 0 2 Y - - - - - - - - - - Y - - - 0.993 Y Y 0 - 4 N - - UMODL1 Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array rs73371577 187 9840 0.0190041 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.914 - - -4 - 2 N - - UMODL1 Asn274His N274H not reviewed Insufficiently evaluated not reviewed unknown Array rs17114359 1711 10496 0.163014 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - UMODL1 Asn274Asp N274D not reviewed Insufficiently evaluated not reviewed unknown Array rs17114359 11 128 0.0859375 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.784 - - -1 - 0 N - - UMODL1 Met559Thr M559T not reviewed Insufficiently evaluated not reviewed unknown Array rs220126 7774 10272 0.756815 50 0 85 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - UMODL1 Asp644Glu D644E not reviewed Insufficiently evaluated not reviewed unknown Array 295 9828 0.0300163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UMODL1 Arg691Gly R691G not reviewed Insufficiently evaluated not reviewed unknown Array rs220127 6771 9110 0.743249 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - UMODL1 Thr741Pro T741P not reviewed Insufficiently evaluated not reviewed unknown Array rs220128 4206 9960 0.422289 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - UMODL1 Ile639Thr I639T not reviewed Insufficiently evaluated not reviewed unknown Array rs220129 99 128 0.773438 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UMODL1 Ile767Thr I767T not reviewed Insufficiently evaluated not reviewed unknown Array rs220129 7678 9964 0.770574 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UMODL1 Thr698Pro T698P not reviewed Insufficiently evaluated not reviewed unknown Array rs220130 25 128 0.195312 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.205 - - 4 Y 0 N - - UMODL1 Thr826Pro T826P not reviewed Insufficiently evaluated not reviewed unknown Array rs220130 1866 10126 0.184278 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - UMODL1 Val850Ile V850I not reviewed Insufficiently evaluated not reviewed unknown Array rs220146 30 122 0.245902 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - UMODL1 Val978Ile V978I not reviewed Insufficiently evaluated not reviewed unknown Array rs220146 2045 10704 0.19105 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - UMODL1 Ile1123Met I1123M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UMODL1 Ile995Met I995M not reviewed Insufficiently evaluated not reviewed unknown Array rs58867895 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - UMODL1 Gln1066Stop Q1066X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UMODL1 Gln1194Stop Q1194X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UMODL1 Gly1068Ser G1068S not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - UMODL1 Gly1196Ser G1196S not reviewed Insufficiently evaluated not reviewed unknown Array 625 10578 0.0590849 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UMODL1 Glu1115Lys E1115K not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - UMODL1 Glu1243Lys E1243K not reviewed Insufficiently evaluated not reviewed unknown Array 353 10012 0.0352577 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UMODL1 Asp1208Asn D1208N not reviewed Insufficiently evaluated not reviewed unknown Array rs220159 49 128 0.382812 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - UMODL1 Asp1336Asn D1336N not reviewed Insufficiently evaluated not reviewed unknown Array rs220159 3413 10134 0.336787 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - UMODL1 Asn1309His N1309H not reviewed Insufficiently evaluated not reviewed unknown Array rs3819142 31 128 0.242188 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - UMODL1 Asn1437His N1437H not reviewed Insufficiently evaluated not reviewed unknown Array 1751 10202 0.171633 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UMPS Gly213Ala G213A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1801019 1779 10758 0.165365 26 0 31 1 1 2 Y - - - - - - - - - - Y - - Y - Y - 1 - 2 N - - UMPS Ile446Val I446V not reviewed Insufficiently evaluated not reviewed unknown Array rs3772809 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - UNC13A Ala1221Ser A1221S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UNC13A Leu1122Pro L1122P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC13A Ala447Thr A447T not reviewed Insufficiently evaluated not reviewed unknown Array rs34752754 3537 10428 0.339183 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UNC13A Glu366Lys E366K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC13B Arg7Pro R7P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - UNC13B Phe1096Leu F1096L not reviewed Insufficiently evaluated not reviewed unknown Array rs41276043 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - UNC13B Glu1232Asp E1232D not reviewed Insufficiently evaluated not reviewed unknown Array rs12339582 330 10758 0.0306748 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 7 - - UNC13B Gln1396Glu Q1396E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - UNC13C Gly609Ser G609S not reviewed Insufficiently evaluated not reviewed unknown Array rs12437941 9963 10120 0.984486 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UNC13C Ser942Leu S942L not reviewed Insufficiently evaluated not reviewed unknown Array rs17731958 284 9668 0.0293753 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 3 - - UNC13C Leu1019Ile L1019I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UNC13D Arg1061Gln R1061Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - UNC13D Arg928Cys R928C benign Low clinical importance, Uncertain benign undefined Array 169 10732 0.0157473 0 0 0 1 1 ! Y - - 5 Y 0 Y - - - - Y - - - 0.998 Y Y 8 Y Familial Hemophagocytic Lymphohistiocytosis 2 28 0 0 - 5 - 3 0 0 This variant was seen, along with other variants, in two cases of haemophagocytic lymphohistiocytosis — however, the variant frequency in these cases does not significantly differ from later reported frequency of the variant in exome sequencing data (1.4%). If the variant were causal it would be significantly enriched in cases; instead, it is likely a polymorphism unrelated to the disease in these patients. UNC13D Lys867Glu K867E not reviewed Insufficiently evaluated not reviewed unknown Array rs1135688 5332 10756 0.495723 38 0 55 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - UNC13D Leu302Phe L302F not reviewed Insufficiently evaluated not reviewed unknown Array 131 10756 0.0121792 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - UNC13D Thr76Met T76M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - UNC13D Ala59Thr A59T benign Low clinical importance, Uncertain benign unknown Array rs9904366 185 10758 0.0171965 1 0 2 1 1 1 Y - - 3 Y - - - - - - Y - - - - Y Y 1 - 4 - 1 0 0 Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism. UNC45A Arg416Gln R416Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC45A Arg431Gln R431Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - 0 - 1 N - - UNC45A Thr781Met T781M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC45A Thr796Met T796M not reviewed Insufficiently evaluated not reviewed unknown Array rs8041035 705 10758 0.0655326 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - UNC45B Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array rs16970659 307 10758 0.0285369 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - UNC45B Asn179Asp N179D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - -1 - 0 N - - UNC45B Cys784Tyr C784Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - UNC45B Cys786Tyr C786Y not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - UNC45B Ile850Asn I850N not reviewed Insufficiently evaluated not reviewed unknown Array rs11654824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC45B Ile852Asn I852N not reviewed Insufficiently evaluated not reviewed unknown Array rs11654824 575 10758 0.0534486 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 1 N - - UNC5A Ala742Val A742V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC5B Ala10Ser A10S not reviewed Insufficiently evaluated not reviewed unknown Array rs61757568 41 10416 0.00393625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UNC5B Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array rs61757569 39 10416 0.00374424 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC5B Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array rs34957097 373 10758 0.0346719 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 3 - 2 - - UNC5B Gly395Trp G395W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.739 - - 7 Y 1 N - - UNC5B Arg401His R401H not reviewed Insufficiently evaluated not reviewed unknown Array rs34447655 331 10758 0.0307678 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.448 - - 1 - 1 N - - UNC5B Ile821Met I821M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.54 - - -1 - 1 N - - UNC5C Met721Thr M721T not reviewed Insufficiently evaluated not reviewed unknown Array rs2289043 5646 10758 0.524819 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UNC5C Ala679Val A679V not reviewed Insufficiently evaluated not reviewed unknown Array rs3733212 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - UNC5CL Pro499Arg P499R not reviewed Insufficiently evaluated not reviewed unknown Array rs742491 80 10636 0.00752162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 3 - 1 - - UNC5CL Arg432Gly R432G not reviewed Insufficiently evaluated not reviewed unknown Array rs742493 968 10758 0.0899796 9 0 8 0 0 - - - - - - - - - - - - - - - - 0.276 - - 6 Y 0 N - - UNC5CL Ser261Phe S261F not reviewed Insufficiently evaluated not reviewed unknown Array rs73425240 14 10754 0.00130184 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - UNC5CL Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 2 N - - UNC84A His118Tyr H118Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UNC84A His68Tyr H68Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UNC84A His295Arg H295R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UNC84A His378Arg H378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UNC84A Glu393Lys E393K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC84A Glu476Lys E476K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC84A Gly444Val G444V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UNC84A Gly527Val G527V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UNC84B Gly671Ser G671S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC84B Pro458Ser P458S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UNC84B Val449Gly V449G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UNC84B Arg348Cys R348C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UNC84B Leu89Arg L89R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UNC84B Thr33Ala T33A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - UNC93A Arg6Lys R6K not reviewed Insufficiently evaluated not reviewed unknown Array rs36110805 233 10758 0.0216583 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UNC93A Trp151Stop W151X not reviewed Insufficiently evaluated not reviewed unknown Array rs2235197 764 10758 0.0710169 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - UNC93A Gly178Glu G178E not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - UNC93A Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC93A Ala220Val A220V not reviewed Insufficiently evaluated not reviewed unknown Array rs34838751 317 10758 0.0294664 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC93A Val250Ile V250I not reviewed Insufficiently evaluated not reviewed unknown Array rs2072767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UNC93A Val292Ile V292I not reviewed Insufficiently evaluated not reviewed unknown Array rs2072767 2794 10758 0.259714 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 0 N - - UNC93A Val266Met V266M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC93A Val308Met V308M not reviewed Insufficiently evaluated not reviewed unknown Array rs35854179 356 10758 0.0330917 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC93A Met361Thr M361T not reviewed Insufficiently evaluated not reviewed unknown Array rs663606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC93A Met403Thr M403T not reviewed Insufficiently evaluated not reviewed unknown Array rs71545154 6337 10742 0.589927 30 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UNC93A Val367Ile V367I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UNC93A Val409Ile V409I not reviewed Insufficiently evaluated not reviewed unknown Array rs7739897 1104 10758 0.102621 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - UNC93A Val403Ala V403A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC93A Val445Ala V445A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - UNC93B1 Glu591Ala E591A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UNC93B1 Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - UNKL Ile51Val I51V not reviewed Insufficiently evaluated not reviewed unknown Array rs113951440 450 10618 0.0423809 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UNQ9391 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UNQ9391 Pro44Arg P44R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UNQ9391 Ala212Val A212V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNQ9391 Ser271Thr S271T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UPB1 Pro82His P82H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - UPF2 Asn496Ser N496S not reviewed Insufficiently evaluated not reviewed unknown Array rs7079388 1001 10756 0.0930643 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UPF3A Arg64Lys R64K not reviewed Insufficiently evaluated not reviewed unknown Array rs3752105 2605 10146 0.256751 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - UPF3A Ala66Ser A66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - UPF3A Val70Leu V70L not reviewed Insufficiently evaluated not reviewed unknown Array 2427 9298 0.261024 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 0 - 1 N - - UPF3A Ala286Thr A286T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UPF3A Ala319Thr A319T not reviewed Insufficiently evaluated not reviewed unknown Array rs3752107 503 10756 0.0467646 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - UPF3A Met293Val M293V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UPF3A Met326Val M326V not reviewed Insufficiently evaluated not reviewed unknown Array rs3993409 399 10756 0.0370956 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UPK1A Glu8Gly E8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - UPK1A Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741212 1613 10758 0.149935 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UPK1A Ser33Ala S33A not reviewed Insufficiently evaluated not reviewed unknown Array rs2267586 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.058 - - -1 - 0 N - - UPK1A Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 3 - 1 - - UPK1A Met257Thr M257T not reviewed Insufficiently evaluated not reviewed unknown Array rs2285421 6293 10756 0.585069 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UPK1B Gln113Arg Q113R not reviewed Insufficiently evaluated not reviewed unknown Array rs9840317 10255 10758 0.953244 53 0 98 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UPK3A Gln91Leu Q91L not reviewed Insufficiently evaluated not reviewed unknown Array rs6006979 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.105 - - 5 Y 1 - 2 - - UPK3A Ala154Pro A154P not reviewed Insufficiently evaluated not reviewed unknown Array rs1057353 8490 10756 0.789327 54 0 86 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UPK3A Val210Ile V210I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.161 - - -4 - 0 N - - UPK3B Arg23Gln R23Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 0 - 2 N - - UPK3B Ser73Pro S73P not reviewed Insufficiently evaluated not reviewed unknown Array rs12666503 12 116 0.103448 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.497 - - 3 - 0 N - - UPK3B Arg255Ser R255S not reviewed Insufficiently evaluated not reviewed unknown Array rs1799125 10575 10714 0.987026 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UPK3B Lys265Glu K265E not reviewed Insufficiently evaluated not reviewed unknown Array rs1636632 3540 10732 0.329855 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UPK3B Gln293Arg Q293R not reviewed Insufficiently evaluated not reviewed unknown Array rs1636632 28 108 0.259259 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UPK3B Trp319Arg W319R not reviewed Insufficiently evaluated not reviewed unknown Array rs1799126 123 124 0.991935 51 0 99 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - UPP2 Arg10Ser R10S not reviewed Insufficiently evaluated not reviewed unknown Array rs6710480 17 128 0.132812 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - UPP2 Arg67Ser R67S not reviewed Insufficiently evaluated not reviewed unknown Array 1421 10758 0.132088 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UQCC Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4911494 5686 10758 0.528537 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UQCC Trp44Arg W44R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UQCRC1 His95Arg H95R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - UQCRC1 His95Asp H95D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - UQCRC2 Arg183Gln R183Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4850 404 10758 0.0375534 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 2 - 6 - - UQCRC2 Arg254His R254H not reviewed Insufficiently evaluated not reviewed unknown Array rs11863893 714 10758 0.0663692 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - UQCRFS1 Ser6Ala S6A not reviewed Insufficiently evaluated not reviewed unknown Array rs8100724 4220 4578 0.9218 18 0 33 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - UQCRH Glu22Gly E22G not reviewed Insufficiently evaluated not reviewed unknown Array rs41292543 806 10758 0.074921 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - URB1 Val1791Leu V1791L not reviewed Insufficiently evaluated not reviewed unknown Array rs3761342 3024 3234 0.935065 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - URB1 Asp1264His D1264H not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - URB1 Gly1145Trp G1145W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - URB1 Asp63Glu D63E not reviewed Insufficiently evaluated not reviewed unknown Array rs58978310 438 3234 0.135436 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.099 - - -2 - 0 N - - URB2 Val778Gly V778G not reviewed Insufficiently evaluated not reviewed unknown Array rs3811473 5466 10758 0.508087 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - URB2 Lys858Glu K858E not reviewed Insufficiently evaluated not reviewed unknown Array rs3811474 1164 10758 0.108199 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 1 N - - URB2 Val1400Met V1400M not reviewed Insufficiently evaluated not reviewed unknown Array rs12142450 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 1 - 2 - - URB2 Arg1408Gln R1408Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41310553 164 10758 0.0152445 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - URG4 Met736Leu M736L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - URG4 Met770Leu M770L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - URG4 Met779Leu M779L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - URG4 Ala717Ser A717S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - URG4 Ala751Ser A751S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - URG4 Ala760Ser A760S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UROC1 Ser483Pro S483P not reviewed Insufficiently evaluated not reviewed unknown Array 85 10756 0.00790257 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UROC1 Arg429Cys R429C not reviewed Insufficiently evaluated not reviewed unknown Array rs9871671 309 10758 0.0287228 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - UROC1 Ala65Ser A65S not reviewed Insufficiently evaluated not reviewed unknown Array rs73859506 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - USE1 Leu154Ser L154S not reviewed Insufficiently evaluated not reviewed unknown Array rs414528 10195 10198 0.999706 48 0 96 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - USE1 Gln191His Q191H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - -1 - 0 N - - USH1C Glu519Asp E519D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -2 - 4 - 4 - - USH1C Glu819Asp E819D not reviewed Insufficiently evaluated not reviewed unknown Array rs1064074 5557 10758 0.516546 42 0 59 0 0 3 Y - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - USH1C Val130Ile V130I benign Low clinical importance, Uncertain benign unknown Array rs55843567 179 10758 0.0166388 2 0 2 1 1 2 Y - - 1 Y - - - - - - Y Y - - - Y Y -4 - 5 N 1 0 0 This moderately common variant (1000 genomes allele frequency of 6.2%) was reported found heterozygously in a patient with Usher syndrome. However, the high allele frequency and fact that it is a conservative amino acid change supports classifying this variant as benign. USH1C His34Arg H34R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - USH1G Pro350Arg P350R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y Y 5 Y 4 N - - USH2A Lys5026Glu K5026E not reviewed Insufficiently evaluated not reviewed unknown Array rs41308435 19 10758 0.00176613 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - USH2A Arg4848Gln R4848Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - USH2A Gly4838Glu G4838E not reviewed Insufficiently evaluated not reviewed unknown Array rs41315587 194 10758 0.0180331 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - USH2A Gly4692Arg G4692R benign Low clinical importance, Uncertain benign unknown Array 51 10758 0.00474066 0 0 0 1 1 ! Y - - 5 Y - - - - - - Y - - - 0.936 Y Y 6 Y 4 N 0 0 Likely benign. Deleterious variants in this gene can cause Usher Syndrome type IIa in a recessive manner, but this variant doesn't appear to be involved. USH2A Met3868Val M3868V not reviewed Insufficiently evaluated not reviewed unknown Array rs35309576 2345 10758 0.217977 15 0 17 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 2 - - USH2A Thr3835Ile T3835I not reviewed Insufficiently evaluated not reviewed unknown Array rs11120616 2180 10758 0.20264 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.157 Y Y 3 - 2 N - - USH2A Val3518Ile V3518I not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - USH2A Glu3411Ala E3411A not reviewed Insufficiently evaluated not reviewed unknown Array rs10864198 6166 10758 0.573155 47 0 65 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 3 - - USH2A Asn3199Asp N3199D not reviewed Insufficiently evaluated not reviewed unknown Array rs4129843 583 10758 0.0541922 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - USH2A Thr3115Ala T3115A not reviewed Insufficiently evaluated not reviewed unknown Array rs56032526 339 10758 0.0315114 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 2 N - - USH2A Leu2886Phe L2886F not reviewed Insufficiently evaluated not reviewed unknown Array rs41277200 519 10758 0.0482432 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - USH2A Val2820Ile V2820I not reviewed Insufficiently evaluated not reviewed unknown Array rs59174500 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - USH2A Glu2238Ala E2238A not reviewed Insufficiently evaluated not reviewed unknown Array rs41277212 223 10758 0.0207288 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - USH2A Ser2196Thr S2196T not reviewed Insufficiently evaluated not reviewed unknown Array 456 10758 0.0423871 8 0 8 0 0 - - - - - - - - - - - - Y - - - 0.176 Y Y -2 - 3 - 1 - - USH2A Ile2169Thr I2169T not reviewed Insufficiently evaluated not reviewed unknown Array rs10864219 5174 10758 0.480944 45 0 60 0 0 - Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 3 - - USH2A Ile2106Thr I2106T not reviewed Insufficiently evaluated not reviewed unknown Array rs6657250 7512 10758 0.698271 47 0 68 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 2 - - USH2A Ile1665Thr I1665T not reviewed Insufficiently evaluated not reviewed unknown Array rs56222536 1200 10754 0.111586 9 0 8 0 0 - Y - - - - - - - - - - Y - - - 0.3 Y Y 3 - 3 - 2 - - USH2A Arg1486Lys R1486K not reviewed Insufficiently evaluated not reviewed unknown Array rs1805049 6527 10758 0.606711 45 0 67 0 0 3 Y - - - - - - - - - - Y - - - 0.063 Y Y -3 - 3 - 2 - - USH2A Ser1311Stop S1311X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 4 Y - - 0 Y - - 3 Y 3 Y Y - - - - Y Y 10 Y Usher Syndrome Type 2 2 234 0 100 INF 4 N - - This variant, which creates a missense mutation, is associated with Usher syndrome type II. Although the case/control data is insufficient to establish significance, downstream missense mutations in this gene are also associated with the disease, implying that this must have the same effect. USH2A Gly713Arg G713R not reviewed Insufficiently evaluated not reviewed unknown Array rs696723 712 10758 0.0661833 7 0 7 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 - 9 - - USH2A Thr613Arg T613R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.508 Y Y 3 - 3 N - - USH2A Glu478Asp E478D benign Insufficiently evaluated benign dominant Array 119 10758 0.0110615 0 0 0 2 2 - - - - - - - - - - - - Y - - - 0.56 Y Y -2 - Retinitis Pigmentosa, Autosomal Recessive 5 141 3 87 1.028 4 - 5 - - Reported in 2004 as a variant of uncertain pathogenicity for Usher Syndrome type II, but in 2007 it was found to have an allelic frequency of 0.017 in Dutch controls. USH2A Val230Met V230M benign Low clinical importance, Uncertain benign recessive Array rs45500891 169 10758 0.0157092 3 0 2 4 4 1 Y - - 1 Y - - - - - - Y - - - 0.006 Y Y 0 - Usher Syndrome Type 2 6 678 3 387 1.142 3 - 8 0 0 This rare variant may be associated with Usher Syndrome II, but the literature seems to have concluded that it is a non-pathogenic polymorphism (including authors who earlier reported it as pathogenic). USH2A Ala125Thr A125T not reviewed Insufficiently evaluated not reviewed unknown Array rs10779261 7736 10758 0.719093 50 0 79 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 2 - - USHBP1 Ala677Val A677V not reviewed Insufficiently evaluated not reviewed unknown Array rs1043963 650 10758 0.0604202 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.095 - - 2 - 1 - 2 - - USHBP1 Val525Met V525M not reviewed Insufficiently evaluated not reviewed unknown Array rs12459398 2556 10758 0.237591 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USHBP1 Pro475Ala P475A not reviewed Insufficiently evaluated not reviewed unknown Array rs35980215 67 10758 0.00622792 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 1 - - USHBP1 Met439Val M439V not reviewed Insufficiently evaluated not reviewed unknown Array rs9676419 3168 10758 0.294479 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USHBP1 Ser412Arg S412R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - USO1 Gln168Arg Q168R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - USO1 Phe471Ser F471S not reviewed Insufficiently evaluated not reviewed unknown Array rs13119659 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USO1 Arg498Gln R498Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USO1 Arg612Lys R612K not reviewed Insufficiently evaluated not reviewed unknown Array rs324726 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - USO1 Gln772Arg Q772R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP1 Glu625Asp E625D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - -2 - 0 N - - USP10 Met200Val M200V not reviewed Insufficiently evaluated not reviewed unknown Array rs1862792 2283 10058 0.226983 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP10 Ser203Pro S203P not reviewed Insufficiently evaluated not reviewed unknown Array rs2326391 1593 10012 0.159109 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - USP10 Val204Leu V204L not reviewed Insufficiently evaluated not reviewed unknown Array rs1812061 1613 10004 0.161236 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - USP12 Arg144Ser R144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP16 Gln141His Q141H not reviewed Insufficiently evaluated not reviewed unknown Array rs2274802 2181 10758 0.202733 15 0 20 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 1 N - - USP16 His634Arg H634R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP16 His635Arg H635R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - USP17 Arg9Gly R9G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP17 Gly212Arg G212R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - USP17 Pro310Gln P310Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USP17 Ser364Thr S364T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - -2 - 2 N - - USP17 Gln430His Q430H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.51 - - -1 - 1 N - - USP17 Ala241Val A241V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP17 Ser23Pro S23P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP17 Arg34Gln R34Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - USP17 Thr216Ser T216S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - USP17 Ser492Thr S492T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP18 Thr169Met T169M not reviewed Insufficiently evaluated not reviewed unknown Array rs3180408 3882 10758 0.360848 22 0 35 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - USP19 Thr941Ala T941A not reviewed Insufficiently evaluated not reviewed unknown Array rs13321689 224 9704 0.0230833 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - USP19 Glu629Lys E629K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - USP19 Lys176Asn K176N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10070 9.9304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - USP19 Asp36His D36H not reviewed Insufficiently evaluated not reviewed unknown Array rs11552724 770 10060 0.0765408 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.14 - - 3 - 0 N - - USP2 Arg174Gln R174Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33929148 491 10758 0.0456405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.442 - - 0 - 1 N - - USP20 Asp359His D359H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP21 Pro91Ser P91S not reviewed Insufficiently evaluated not reviewed unknown Array rs34779722 242 10758 0.0224949 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 3 - 2 - - USP21 Gly321Asp G321D not reviewed Insufficiently evaluated not reviewed unknown Array rs17356051 456 10758 0.0423871 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - USP21 Pro336Thr P336T not reviewed Insufficiently evaluated not reviewed unknown Array rs1127525 345 10758 0.0320692 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 0 N - - USP24 Val2308Ala V2308A not reviewed Insufficiently evaluated not reviewed unknown Array rs487230 6167 9568 0.644544 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - USP24 Val1560Met V1560M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP24 Thr114Ile T114I not reviewed Insufficiently evaluated not reviewed unknown Array rs1165222 8125 9552 0.850607 54 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - USP28 Asn152Ser N152S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - USP28 Arg136Cys R136C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 8 Y 0 N - - USP29 Asn368Ser N368S not reviewed Insufficiently evaluated not reviewed unknown Array rs1027392 7139 10756 0.663723 51 0 78 0 0 - - - - - - - - - - - - - - - - 0.52 - - 0 - 0 N - - USP29 Glu586Lys E586K not reviewed Insufficiently evaluated not reviewed unknown Array rs3795003 405 10758 0.0376464 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.789 - - 0 - 1 N - - USP29 Asp790Glu D790E not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - -2 - 3 - 1 - - USP29 Tyr913Stop Y913X not reviewed Insufficiently evaluated not reviewed unknown Array rs9973206 9505 10756 0.883693 56 0 102 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - USP30 His357Arg H357R not reviewed Insufficiently evaluated not reviewed unknown Array 665 10758 0.0618145 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - USP30 Asn471Ser N471S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP31 Thr1288Met T1288M not reviewed Insufficiently evaluated not reviewed unknown Array rs61143045 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - USP31 Arg931Leu R931L not reviewed Insufficiently evaluated not reviewed unknown Array rs10083789 2759 10758 0.25646 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - USP31 Ile538Thr I538T not reviewed Insufficiently evaluated not reviewed unknown Array rs13339649 2879 10758 0.267615 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - USP31 Asp445Tyr D445Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.605 - - 7 Y 2 - 4 - - USP32 Val1215Ile V1215I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - USP32 Arg935Trp R935W not reviewed Insufficiently evaluated not reviewed unknown Array 1531 10732 0.142657 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - USP33 Thr9Met T9M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP34 Glu2497Lys E2497K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP34 Glu2276Stop E2276X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USP34 His2064Gln H2064Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72811482 418 9524 0.0438891 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP34 Leu1663Arg L1663R not reviewed Insufficiently evaluated not reviewed unknown Array rs6723818 147 9644 0.0152426 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - USP34 Leu675Pro L675P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP34 Met661Thr M661T not reviewed Insufficiently evaluated not reviewed unknown Array rs6722430 9713 9846 0.986492 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - USP35 Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array 278 9604 0.0289463 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP35 Val236Met V236M not reviewed Insufficiently evaluated not reviewed unknown Array rs2510044 1117 10602 0.105357 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP35 Pro353Arg P353R not reviewed Insufficiently evaluated not reviewed unknown Array rs73507220 655 10168 0.0644178 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - USP35 Gly636Asp G636D not reviewed Insufficiently evaluated not reviewed unknown Array 138 9846 0.0140158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USP35 Arg641Gly R641G not reviewed Insufficiently evaluated not reviewed unknown Array rs73507299 355 9856 0.0360187 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP35 Ile677Val I677V not reviewed Insufficiently evaluated not reviewed unknown Array rs2511188 2636 10066 0.261872 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - USP35 Arg816His R816H not reviewed Insufficiently evaluated not reviewed unknown Array 150 10548 0.0142207 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - USP35 Ala876Pro A876P not reviewed Insufficiently evaluated not reviewed unknown Array rs2512526 9644 9946 0.969636 54 0 101 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - USP35 Arg987Lys R987K not reviewed Insufficiently evaluated not reviewed unknown Array rs60872109 122 9968 0.0122392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - USP36 Ser1023Cys S1023C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP36 Ser992Asn S992N not reviewed Insufficiently evaluated not reviewed unknown Array rs73394926 232 10752 0.0215774 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP36 Glu990Lys E990K not reviewed Insufficiently evaluated not reviewed unknown Array rs77261246 168 10754 0.0156221 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP36 Arg828Cys R828C not reviewed Insufficiently evaluated not reviewed unknown Array rs1057040 4953 10708 0.462551 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - USP36 Lys814Asn K814N not reviewed Insufficiently evaluated not reviewed unknown Array rs3744797 7 10650 0.000657276 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 2 - 3 - - USP36 Gln806Arg Q806R not reviewed Insufficiently evaluated not reviewed unknown Array rs3088040 5883 10638 0.553017 14 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP36 Ile489Met I489M not reviewed Insufficiently evaluated not reviewed unknown Array rs3744795 166 10758 0.0154304 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - USP36 Val271Ile V271I not reviewed Insufficiently evaluated not reviewed unknown Array rs3744793 3620 10758 0.336494 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - USP37 Leu979Ser L979S not reviewed Insufficiently evaluated not reviewed unknown Array rs6436058 10634 10758 0.988474 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - USP37 Ala470Thr A470T not reviewed Insufficiently evaluated not reviewed unknown Array rs73074874 84 10758 0.00780814 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP37 Arg317Lys R317K not reviewed Insufficiently evaluated not reviewed unknown Array rs73074890 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - USP38 Arg599Cys R599C not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - USP40 Met1136Thr M1136T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP40 Met1015Ile M1015I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP40 Met1015Thr M1015T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP40 Ser598Pro S598P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP40 Gly501Ser G501S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP40 Ser169Asn S169N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP42 Leu760Arg L760R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732616 766 7518 0.101889 21 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - USP42 Ala779Pro A779P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP42 Trp1030Arg W1030R not reviewed Insufficiently evaluated not reviewed unknown Array rs6463529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP43 Ser821Tyr S821Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 0 N - - USP44 Pro602Ser P602S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP44 Arg348Gly R348G not reviewed Insufficiently evaluated not reviewed unknown Array rs7135642 314 10758 0.0291876 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP44 Glu316Gln E316Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7305024 564 10758 0.0524261 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - USP44 Thr91Ala T91A not reviewed Insufficiently evaluated not reviewed unknown Array rs3812813 6801 10758 0.632181 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - USP45 Asn778Ser N778S not reviewed Insufficiently evaluated not reviewed unknown Array rs6570065 10526 10758 0.978435 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP45 Arg521Thr R521T not reviewed Insufficiently evaluated not reviewed unknown Array rs41288947 2997 10758 0.278583 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.418 - - 3 - 0 N - - USP45 Met398Ile M398I not reviewed Insufficiently evaluated not reviewed unknown Array rs61753658 183 10758 0.0170106 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 0 N - - USP45 Cys85Tyr C85Y not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - USP45 Lys67Glu K67E not reviewed Insufficiently evaluated not reviewed unknown Array rs7744845 2407 10756 0.223782 27 0 31 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - USP46 Thr180Pro T180P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - USP46 Thr187Pro T187P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - USP47 Gly75Val G75V not reviewed Insufficiently evaluated not reviewed unknown Array rs11022079 7495 9652 0.776523 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - USP47 Asp574Asn D574N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP47 Ile1085Thr I1085T not reviewed Insufficiently evaluated not reviewed unknown Array 14 9610 0.00145682 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP48 Ile796Val I796V not reviewed Insufficiently evaluated not reviewed unknown Array rs61749350 213 10758 0.0197992 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.761 - - -4 - 1 N - - USP49 Glu474Stop E474X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USP49 Trp332Cys W332C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 7 Y 0 N - - USP49 Arg70Trp R70W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - USP49 Arg48Leu R48L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - USP53 Ser962Arg S962R not reviewed Insufficiently evaluated not reviewed unknown Array rs3749591 2526 9772 0.258494 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - USP54 Gly1367Asp G1367D not reviewed Insufficiently evaluated not reviewed unknown Array rs7083344 621 10758 0.0577245 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.042 - - 4 Y 0 N - - USP54 Ser928Phe S928F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - USP6 Lys66Gln K66Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - USP6 Thr72Arg T72R not reviewed Insufficiently evaluated not reviewed unknown Array 1315 10758 0.122235 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - USP6 His89Asn H89N not reviewed Insufficiently evaluated not reviewed unknown Array 2464 10758 0.229039 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP6 Ser91Thr S91T not reviewed Insufficiently evaluated not reviewed unknown Array 2536 10758 0.235732 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - USP6 Arg96Leu R96L not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP6 Gly107Cys G107C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP6 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP6 Arg133Lys R133K not reviewed Insufficiently evaluated not reviewed unknown Array 909 10758 0.0844953 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - USP6 Ala205Thr A205T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - USP6 Phe327Leu F327L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP6 Cys415Tyr C415Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61740308 1358 10758 0.126232 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - USP6 Arg456Trp R456W not reviewed Insufficiently evaluated not reviewed unknown Array rs61745111 1356 10758 0.126046 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - USP6 Trp475Arg W475R not reviewed Insufficiently evaluated not reviewed unknown Array rs8073787 6858 10758 0.637479 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - USP6 Arg912Gln R912Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9899177 5583 10758 0.518963 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 1 N - - USP6 Ile1167Ser I1167S not reviewed Insufficiently evaluated not reviewed unknown Array rs3816913 1345 10754 0.12507 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.318 - - 5 Y 0 N - - USP6 Arg1303Gly R1303G not reviewed Insufficiently evaluated not reviewed unknown Array 191 10750 0.0177674 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - USP8 Asp443Gly D443G not reviewed Insufficiently evaluated not reviewed unknown Array rs3743044 255 10756 0.0237077 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.916 - - 4 Y 2 N - - USP8 Thr739Ala T739A not reviewed Insufficiently evaluated not reviewed unknown Array rs11638390 1454 10758 0.135155 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - USP8 Arg763Trp R763W not reviewed Insufficiently evaluated not reviewed unknown Array 558 10758 0.0518684 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - USP8 Asn764Lys N764K not reviewed Insufficiently evaluated not reviewed unknown Array 456 10758 0.0423871 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.684 - - 1 - 1 N - - USP9X Val96Leu V96L not reviewed Insufficiently evaluated not reviewed unknown Array rs73480414 7 8761 0.000798995 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.18 - - 0 - 0 N - - USP9Y Glu65Asp E65D not reviewed Insufficiently evaluated not reviewed unknown Array rs7067496 13 0 26 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -2 - 2 N - - USP9Y Asp997Glu D997E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -2 - 2 N - - USP9Y Asn2528His N2528H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 4 N - - USPL1 Pro384Ser P384S not reviewed Insufficiently evaluated not reviewed unknown Array rs3742303 253 10758 0.0235174 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - USPL1 Ala522Pro A522P not reviewed Insufficiently evaluated not reviewed unknown Array rs17609459 235 10758 0.0218442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 1 - 4 - - USPL1 Leu531Ser L531S not reviewed Insufficiently evaluated not reviewed unknown Array rs7984952 5753 10758 0.534765 36 0 57 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - USPL1 Ser739Cys S739C not reviewed Insufficiently evaluated not reviewed unknown Array rs9578190 478 10756 0.0444403 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - USPL1 Leu786Ile L786I not reviewed Insufficiently evaluated not reviewed unknown Array rs35371042 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - -2 - 1 N - - USPL1 Ser950Asn S950N not reviewed Insufficiently evaluated not reviewed unknown Array rs3742302 5720 10758 0.531697 35 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USPL1 Ile1003Ser I1003S not reviewed Insufficiently evaluated not reviewed unknown Array rs60077235 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 0 N - - UTF1 Gly73Arg G73R not reviewed Insufficiently evaluated not reviewed unknown Array 163 3166 0.0514845 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 6 Y 2 - 5 - - UTP14A Val487Ala V487A not reviewed Insufficiently evaluated not reviewed unknown Array rs2281278 756 8761 0.0862915 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - UTP14C Gly85Val G85V not reviewed Insufficiently evaluated not reviewed unknown Array rs3742289 6815 10758 0.633482 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - UTP14C Thr101Ala T101A not reviewed Insufficiently evaluated not reviewed unknown Array rs3742290 1047 10758 0.0973229 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - UTP14C Arg319His R319H not reviewed Insufficiently evaluated not reviewed unknown Array rs17402034 812 10758 0.0754787 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 - 3 - - UTP14C Glu549Lys E549K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - UTP14C Arg571Thr R571T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UTP18 Glu4Gln E4Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.187 - - -2 - 0 N - - UTP20 Met120Thr M120T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290723 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - UTP20 Ser502Cys S502C not reviewed Insufficiently evaluated not reviewed unknown Array rs4764643 1550 10756 0.144106 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 1 N - - UTP20 Arg672Trp R672W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.416 - - 7 Y 1 N - - UTP20 Ile1373Thr I1373T not reviewed Insufficiently evaluated not reviewed unknown Array rs73378743 368 10758 0.0342071 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.906 - - 3 - 2 N - - UTP20 Leu1882Gln L1882Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10082778 10666 10758 0.991448 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - UTP20 Asn2182Tyr N2182Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 5 Y 2 N - - UTP20 Glu2612Gln E2612Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1061436 1313 10758 0.122049 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - UTP23 Lys195Gln K195Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1133950 695 10758 0.0646031 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 1 N - - UTP23 Pro215Leu P215L not reviewed Insufficiently evaluated not reviewed unknown Array rs16888728 2024 10744 0.188384 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - UTP3 Thr23Met T23M not reviewed Insufficiently evaluated not reviewed unknown Array rs16845385 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - UTP6 Gln69Arg Q69R not reviewed Insufficiently evaluated not reviewed unknown Array rs3760454 3529 10744 0.328462 28 0 39 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - UTP6 Ala32Ser A32S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - UTRN Arg741Ile R741I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UTRN Arg885His R885H not reviewed Insufficiently evaluated not reviewed unknown Array rs34643516 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UTRN Thr1897Pro T1897P not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UTRN Ala1974Thr A1974T not reviewed Insufficiently evaluated not reviewed unknown Array rs12204734 1525 10758 0.141755 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UTRN Asn2202Ser N2202S not reviewed Insufficiently evaluated not reviewed unknown Array rs1534443 2773 10758 0.257762 28 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UTRN Ile2632Val I2632V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UTRN Met3412Leu M3412L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UTS2 Ser74Asn S74N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.279 - - 0 - 1 N - - UTS2 Ser89Asn S89N not reviewed Insufficiently evaluated not reviewed unknown Array rs2890565 411 10754 0.0382183 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTS2 Ile12Thr I12T not reviewed Insufficiently evaluated not reviewed unknown Array rs34305100 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - UTS2 Thr21Met T21M not reviewed Insufficiently evaluated not reviewed unknown Array rs228648 5771 10756 0.536538 35 0 52 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UTS2 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13306061 1532 10756 0.142432 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - UTS2D Gly28Stop G28X not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UTS2D Ser21Ile S21I not reviewed Insufficiently evaluated not reviewed unknown Array rs6788319 5259 10756 0.488936 39 0 51 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - UTS2R Asn33Asp N33D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.658 - - -1 - 1 N - - VANGL1 Ala116Thr A116T not reviewed Insufficiently evaluated not reviewed unknown Array rs4839469 1337 10758 0.12428 20 0 23 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 2 - 1 - - VANGL1 Ser338Stop S338X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - VAPA Ile141Val I141V not reviewed Insufficiently evaluated not reviewed unknown Array 175 10058 0.0173991 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VAPA Met153Val M153V not reviewed Insufficiently evaluated not reviewed unknown Array rs29132 770 10070 0.0764647 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VARS Pro626Ser P626S not reviewed Insufficiently evaluated not reviewed unknown Array rs11531 204 7520 0.0271277 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.037 - - 3 - 0 N - - VARS Asn623Ser N623S not reviewed Insufficiently evaluated not reviewed unknown Array 57 7522 0.00757777 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 1 - 2 - - VARS Val547Gly V547G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - VARS Arg181Cys R181C not reviewed Insufficiently evaluated not reviewed unknown Array rs35196751 275 10758 0.0255624 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - VARS Pro51Arg P51R not reviewed Insufficiently evaluated not reviewed unknown Array 1424 5728 0.248603 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - VARS Pro51Thr P51T not reviewed Insufficiently evaluated not reviewed unknown Array 1432 5738 0.249564 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 4 Y 0 N - - VARS2 His26Tyr H26Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6926224 521 7520 0.0692819 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 0 N - - VARS2 Gly64Arg G64R not reviewed Insufficiently evaluated not reviewed unknown Array rs6926723 508 7524 0.0675173 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - VARS2 Gly203Arg G203R not reviewed Insufficiently evaluated not reviewed unknown Array rs73430135 37 10758 0.0034393 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.031 - - 6 Y 0 N - - VARS2 Trp449Arg W449R not reviewed Insufficiently evaluated not reviewed unknown Array rs2249464 5184 10758 0.481874 38 0 53 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - VARS2 Ala557Asp A557D not reviewed Insufficiently evaluated not reviewed unknown Array rs55822421 34 7522 0.00452007 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - VARS2 Val680Leu V680L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074506 2122 7514 0.282406 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.715 - - 0 - 0 N - - VARS2 Val765Met V765M not reviewed Insufficiently evaluated not reviewed unknown Array 19 7518 0.00252727 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 1 - - VARS2 Arg917Gln R917Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9394021 1424 7512 0.189563 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - VARS2 Ala965Thr A965T not reviewed Insufficiently evaluated not reviewed unknown Array rs2252863 2068 7472 0.276767 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - VARS2 Arg1049Gln R1049Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4678 1241 7516 0.165114 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - VASH2 Arg225Gln R225Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VASH2 Arg264Gln R264Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VASH2 Arg285Gln R285Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60032955 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VASN Glu384Ala E384A not reviewed Insufficiently evaluated not reviewed unknown Array rs3810818 7801 10608 0.735388 40 0 63 0 0 - - - - - - - - - - - - - - - - 0.172 - - 3 - 0 N - - VASN Leu439Arg L439R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - VAT1L Asn54Ser N54S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - VAV1 Glu500Stop E500X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VAV1 Thr739Met T739M not reviewed Insufficiently evaluated not reviewed unknown Array rs36097961 545 10758 0.05066 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VAV2 Met584Val M584V not reviewed Insufficiently evaluated not reviewed unknown Array rs602990 66 126 0.52381 37 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VAV2 Met594Val M594V not reviewed Insufficiently evaluated not reviewed unknown Array rs602990 6730 10758 0.625581 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VAV3 Gln58His Q58H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VAV3 Gln618His Q618H not reviewed Insufficiently evaluated not reviewed unknown Array rs12403266 1365 10758 0.126882 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VAV3 Pro56Ser P56S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VAV3 Pro616Ser P616S not reviewed Insufficiently evaluated not reviewed unknown Array rs12410676 1142 10758 0.106154 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - VAV3 Thr522Asn T522N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VAV3 Thr298Ser T298S not reviewed Insufficiently evaluated not reviewed unknown Array rs7528153 7161 10758 0.665644 40 0 61 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - VAV3 Asp139Asn D139N not reviewed Insufficiently evaluated not reviewed unknown Array rs34318889 71 10758 0.00659974 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.147 - - -1 - 1 - 2 - - VAX2 Leu139Met L139M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -3 - 2 N - - VAX2 Pro254Arg P254R not reviewed Insufficiently evaluated not reviewed unknown Array rs2234500 1123 10758 0.104387 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 1 N - - VBP1 Met123Val M123V not reviewed Insufficiently evaluated not reviewed unknown Array rs572013 92 92 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VCAM1 Gly321Ala G321A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - VCAM1 Gly413Ala G413A not reviewed Insufficiently evaluated not reviewed unknown Array rs3783613 467 10758 0.0434096 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.925 - - 1 - 2 N - - VCAN Ser300Leu S300L not reviewed Insufficiently evaluated not reviewed unknown Array rs2652098 51 10758 0.00474066 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.111 Y Y 6 Y 3 - 4 - - VCAN Gly428Asp G428D not reviewed Insufficiently evaluated not reviewed unknown Array rs2287926 1860 10758 0.172895 20 0 23 0 0 - - - - - - - - - - - - Y - - - 0.923 Y Y 4 Y 3 N - - VCAN Ser959Cys S959C not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 3 - 4 N - - VCAN Pro963Ser P963S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 3 - 4 N - - VCAN His1385Pro H1385P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 5 Y 4 N - - VCAN Lys1516Arg K1516R not reviewed Insufficiently evaluated not reviewed unknown Array rs309559 5372 10758 0.499349 47 0 62 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 - 1 - - VCAN Arg1826His R1826H not reviewed Insufficiently evaluated not reviewed unknown Array rs188703 4118 10758 0.382785 27 0 34 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 3 - 2 - - VCAN Gln2108Glu Q2108E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.952 Y Y -2 - 4 N - - VCAN Phe2301Tyr F2301Y not reviewed Insufficiently evaluated not reviewed unknown Array rs160278 5335 10758 0.49591 47 0 60 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - VCAN Pro2344Ser P2344S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733401 354 10758 0.0329057 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.141 Y Y 3 - 2 N - - VCAN Thr2671Lys T2671K not reviewed Insufficiently evaluated not reviewed unknown Array rs61733390 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.971 Y Y 3 - 4 N - - VCAN Val2685Ile V2685I not reviewed Insufficiently evaluated not reviewed unknown Array rs59948995 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - VCAN Arg2697His R2697H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733389 316 10758 0.0293735 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.155 Y Y 1 - 2 N - - VCAN Asp2937Tyr D2937Y not reviewed Insufficiently evaluated not reviewed unknown Array rs160277 4173 10758 0.387897 35 0 42 0 0 - - - - - - - - - - - - Y - - - 0.11 Y Y 7 Y 3 - 8 - - VCAN Thr3045Arg T3045R not reviewed Insufficiently evaluated not reviewed unknown Array rs73148633 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.906 Y Y 3 - 4 N - - VCP Ile27Val I27V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - VCPIP1 Gly858Cys G858C not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 7 Y 0 N - - VCX Ala70Gly A70G not reviewed Insufficiently evaluated not reviewed unknown Array 5892 7759 0.759376 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 5 - - VCX Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array 3621 8468 0.42761 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - VCX Val140Met V140M not reviewed Insufficiently evaluated not reviewed unknown Array 48 6960 0.00689655 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VCX Glu159Gln E159Q not reviewed Insufficiently evaluated not reviewed unknown Array 84 7779 0.0107983 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VCX Pro194Leu P194L not reviewed Insufficiently evaluated not reviewed unknown Array 3703 8226 0.450158 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - VCX Glu199Gln E199Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 8214 0.000973946 2 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VCX Val206Met V206M not reviewed Insufficiently evaluated not reviewed unknown Array 1120 8100 0.138272 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VCX2 Thr138Ser T138S not reviewed Insufficiently evaluated not reviewed unknown Array rs1058239 7478 8724 0.857176 42 0 83 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - VCX2 Val110Leu V110L not reviewed Insufficiently evaluated not reviewed unknown Array 4761 8653 0.550214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VCX2 Ser108Thr S108T not reviewed Insufficiently evaluated not reviewed unknown Array 33 7677 0.00429855 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VCX3A Val186Met V186M not reviewed Insufficiently evaluated not reviewed unknown Array 12 8756 0.00137049 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VCX3A Leu164Pro L164P not reviewed Insufficiently evaluated not reviewed unknown Array 776 8595 0.090285 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - VCX3A Val160Met V160M not reviewed Insufficiently evaluated not reviewed unknown Array 480 8645 0.0555234 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VCX3A Val140Met V140M not reviewed Insufficiently evaluated not reviewed unknown Array 6121 8571 0.714152 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VCX3B Lys15Arg K15R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VCX3B Val216Met V216M not reviewed Insufficiently evaluated not reviewed unknown Array 487 8582 0.0567467 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VDAC3 Thr51Arg T51R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.516 - - 3 - 1 N - - VDAC3 Thr52Arg T52R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VDR Arg368Gly R368G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.849 Y - 6 Y 3 - 1 - - VDR Ile367Met I367M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - -1 - 3 N - - VDR Met1Thr M1T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2228570 7270 10758 0.675776 71 0 113 3 3 5 Y - - - - - - - - - - Y - - Y 0.999 Y - 2 - 4 N 10 - - VEGFC Arg61Gln R61Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41278571 84 9802 0.00856968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - VEGFC Glu47Val E47V not reviewed Insufficiently evaluated not reviewed unknown Array 36 9640 0.00373444 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 1 N - - VENTX Leu42Pro L42P not reviewed Insufficiently evaluated not reviewed unknown Array rs2240892 1232 10234 0.120383 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 4 - - VENTX Met79Val M79V not reviewed Insufficiently evaluated not reviewed unknown Array rs2240891 254 9446 0.0268897 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - VENTX Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array rs9418952 885 10750 0.0823256 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.569 - - 6 Y 0 N - - VENTX Ala226Glu A226E not reviewed Insufficiently evaluated not reviewed unknown Array rs74164127 816 10596 0.0770102 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - VENTX Pro230Thr P230T not reviewed Insufficiently evaluated not reviewed unknown Array rs9419033 776 10548 0.0735684 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 1 N - - VENTX Gly247Asp G247D not reviewed Insufficiently evaluated not reviewed unknown Array rs9418953 717 10176 0.0704599 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - VEPH1 Asn704Thr N704T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - VEPH1 Ser522Pro S522P not reviewed Insufficiently evaluated not reviewed unknown Array rs11918974 2230 10758 0.207288 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VEPH1 Ser501Leu S501L not reviewed Insufficiently evaluated not reviewed unknown Array rs59504298 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - 6 Y 1 - 1 - - VEPH1 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16827563 373 10758 0.0346719 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - VEPH1 Val263Gly V263G not reviewed Insufficiently evaluated not reviewed unknown Array rs1378796 1420 10758 0.131995 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - VEZF1 Glu68Stop E68X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VEZF1 Ala55Ser A55S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VEZT Thr162Ala T162A not reviewed Insufficiently evaluated not reviewed unknown Array rs17855933 914 9784 0.0934178 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.08 - - 1 - 1 - 3 - - VEZT Val612Met V612M not reviewed Insufficiently evaluated not reviewed unknown Array rs17344738 425 9052 0.046951 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - VEZT Ser668Ala S668A not reviewed Insufficiently evaluated not reviewed unknown Array rs17855934 913 9578 0.0953226 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 3 - - VEZT Gly762Asp G762D not reviewed Insufficiently evaluated not reviewed unknown Array rs14121 7500 9632 0.778654 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - VGF Glu107Gln E107Q not reviewed Insufficiently evaluated not reviewed unknown Array 79 10268 0.0076938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VGLL2 Glu274Gln E274Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - -2 - 1 N - - VGLL3 His238Pro H238P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 5 Y 1 N - - VGLL4 Glu65Lys E65K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VGLL4 Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VGLL4 Ile32Met I32M not reviewed Insufficiently evaluated not reviewed unknown Array rs2276749 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VGLL4 Ile38Met I38M not reviewed Insufficiently evaluated not reviewed unknown Array rs2276749 10371 10758 0.964027 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VIL1 Lys254Arg K254R not reviewed Insufficiently evaluated not reviewed unknown Array rs35305540 221 10758 0.0205429 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VIL1 Ala271Pro A271P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 2 - 2 N - - VILL Leu740Phe L740F not reviewed Insufficiently evaluated not reviewed unknown Array rs9816693 2546 10696 0.238033 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VIPR1 Arg99Ser R99S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10754 0.00223173 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - VIPR2 Pro237Ala P237A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - VIT Lys570Arg K570R not reviewed Insufficiently evaluated not reviewed unknown Array rs2072526 1137 10758 0.105689 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - VIT Leu574Ile L574I not reviewed Insufficiently evaluated not reviewed unknown Array rs2072525 190 10758 0.0176613 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VIT His673Tyr H673Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11901202 535 10758 0.0497304 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VKORC1 Pro83Leu P83L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - Y - Y - 7 Y 4 N 3 - - VKORC1 Gly64Arg G64R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 6 Y 4 - 3 - - VLDLR Val59Ile V59I not reviewed Insufficiently evaluated not reviewed unknown Array rs6149 653 10758 0.060699 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 1 - - VLDLR Thr764Met T764M not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.315 Y Y 2 - 3 N - - VMAC Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array rs10404195 1532 10752 0.142485 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 1 N - - VMO1 Thr77Ser T77S not reviewed Insufficiently evaluated not reviewed unknown Array rs2279961 1198 10758 0.111359 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 1 N - - VMO1 Thr26Ala T26A not reviewed Insufficiently evaluated not reviewed unknown Array rs4790706 5427 10756 0.504556 41 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VN1R1 Ala269Asp A269D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744949 3158 10758 0.293549 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.05 - - 5 Y 0 N - - VN1R1 Ser241Phe S241F not reviewed Insufficiently evaluated not reviewed unknown Array rs28649880 3159 10758 0.293642 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.967 - - 5 Y 1 N - - VN1R2 Cys38Arg C38R not reviewed Insufficiently evaluated not reviewed unknown Array rs2965249 2421 9098 0.266102 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - VN1R2 Val69Gly V69G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 8 Y 0 N - - VN1R2 Val77Phe V77F not reviewed Insufficiently evaluated not reviewed unknown Array rs73044178 70 10710 0.00653595 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VN1R2 His269Arg H269R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - VN1R4 Asn220Asp N220D not reviewed Insufficiently evaluated not reviewed unknown Array rs56873934 42 128 0.328125 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VN1R4 Ala117Gly A117G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 1 - 0 N - - VN1R4 Thr108Met T108M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 2 - 1 N - - VN1R4 Pro63Thr P63T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.594 - - 4 Y 1 N - - VN1R4 Ala52Val A52V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 2 - 0 N - - VN1R5 Arg350Cys R350C not reviewed Insufficiently evaluated not reviewed unknown Array rs41308154 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VNN1 Ala325Glu A325E not reviewed Insufficiently evaluated not reviewed unknown Array rs34535050 280 10758 0.0260271 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VNN1 Asn131Ser N131S not reviewed Insufficiently evaluated not reviewed unknown Array rs2272996 2596 10758 0.241309 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - VNN1 Thr26Ile T26I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294757 5651 10758 0.525284 41 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VNN2 Leu351Met L351M not reviewed Insufficiently evaluated not reviewed unknown Array rs4895944 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VNN2 Leu404Met L404M not reviewed Insufficiently evaluated not reviewed unknown Array rs4895944 10752 10756 0.999628 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - VNN3 Val222Ala V222A not reviewed Insufficiently evaluated not reviewed unknown Array rs6569834 16 128 0.125 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - VNN3 Leu144Trp L144W not reviewed Insufficiently evaluated not reviewed unknown Array 276 10758 0.0256553 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VNN3 Cys132Tyr C132Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4895943 7030 10758 0.653467 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VNN3 Thr89Ala T89A not reviewed Insufficiently evaluated not reviewed unknown Array rs36012859 420 10758 0.0390407 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - VNN3 His33Arg H33R not reviewed Insufficiently evaluated not reviewed unknown Array rs764264 135 10758 0.0125488 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - VPREB1 Asp76Asn D76N not reviewed Insufficiently evaluated not reviewed unknown Array rs1320 427 10758 0.0396914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -1 - 1 - 7 - - VPREB1 Glu132Lys E132K not reviewed Insufficiently evaluated not reviewed unknown Array rs5995720 2437 10700 0.227757 28 0 35 0 0 - - - - - - - - - - - - - - - - 0.071 - - 0 - 0 N - - VPS11 Ala162Gly A162G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS11 Thr422Met T422M not reviewed Insufficiently evaluated not reviewed unknown Array rs540261 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VPS11 Ala660Val A660V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VPS11 Ser889Gly S889G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VPS13A Arg1451Lys R1451K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - VPS13A Arg1490Lys R1490K not reviewed Insufficiently evaluated not reviewed unknown Array 205 10758 0.0190556 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y -3 - 1 N - - VPS13A Thr1490Ser T1490S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - VPS13A Thr1529Ser T1529S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - VPS13A Asp1604Asn D1604N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - VPS13A Asp1643Asn D1643N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.188 - Y -1 - 1 N - - VPS13A Ile1849Ser I1849S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - VPS13A Ile1888Ser I1888S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.616 - Y 5 Y 2 N - - VPS13A Ser1877Asn S1877N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - VPS13A Ser1916Asn S1916N not reviewed Insufficiently evaluated not reviewed unknown Array rs73467962 168 10758 0.0156163 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 0 - 1 N - - VPS13A Lys2633Asn K2633N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - VPS13A Lys2672Asn K2672N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.658 - Y 1 - 3 - 1 - - VPS13A Pro3133Leu P3133L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - VPS13A Pro3172Leu P3172L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 7 Y 3 N - - VPS13B Trp31Leu W31L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 4 N - - VPS13B Tyr413Stop Y413X benign Low clinical importance, Uncertain benign unknown Array 1 0 2 0 0 - - - - 1 Y - - - - - - Y - - - - Y Y 10 Y 4 N 0 0 This common allele is found in the VPS13B gene, a.k.a. COH1. There are several splice variants for this gene, and the majority (which form full length proteins) treat this region as intronic. The splice variant terminates very closely downstream to this variant in the reference genome -- the variant product is only three amino acids shorter. We conclude this variant is a benign polymorphism. VPS13B Ala829Thr A829T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753721 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 1 - 2 N - - VPS13B Pro1138Leu P1138L not reviewed Insufficiently evaluated not reviewed unknown Array rs35342235 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - VPS13B His1382Gln H1382Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -1 - 4 N - - VPS13B Val2559Ala V2559A not reviewed Insufficiently evaluated not reviewed unknown Array 1041 10758 0.0967652 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - VPS13B Val2584Ala V2584A not reviewed Insufficiently evaluated not reviewed unknown Array rs7833870 14 128 0.109375 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - VPS13B Gly3407Arg G3407R not reviewed Insufficiently evaluated not reviewed unknown Array 1300 10758 0.12084 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - VPS13B Gly3432Arg G3432R not reviewed Insufficiently evaluated not reviewed unknown Array rs6468694 15 128 0.117188 13 0 14 0 0 5 Y - - - - - - - - - - Y - - - 0.966 Y Y 6 Y 3 N - - VPS13B Ala3413Ser A3413S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - VPS13B Ala3438Ser A3438S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y -1 - 3 N - - VPS13B Asp3746Tyr D3746Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - VPS13B Asp3771Tyr D3771Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 7 Y 4 N - - VPS13B Ile3951Thr I3951T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - VPS13B Ile3976Thr I3976T not reviewed Insufficiently evaluated not reviewed unknown Array rs73273219 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - VPS13C Asp3672Tyr D3672Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VPS13C Asp3715Tyr D3715Y not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 7 Y 2 N - - VPS13C Ser2870Asn S2870N not reviewed Insufficiently evaluated not reviewed unknown Array rs10851704 3 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Ser2913Asn S2913N not reviewed Insufficiently evaluated not reviewed unknown Array rs10851704 5624 10758 0.522774 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VPS13C Lys2765Arg K2765R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - VPS13C Lys2808Arg K2808R not reviewed Insufficiently evaluated not reviewed unknown Array rs34060567 317 10750 0.0294884 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 3 - 2 - - VPS13C His2337Arg H2337R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13C His2380Arg H2380R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10744 0.00335071 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - VPS13C Val2279Met V2279M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - VPS13C Val2322Met V2322M not reviewed Insufficiently evaluated not reviewed unknown Array rs12907567 666 10758 0.0619074 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VPS13C Ile1761Val I1761V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VPS13C Ile1804Val I1804V not reviewed Insufficiently evaluated not reviewed unknown Array rs73430435 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - VPS13C Ala1540Thr A1540T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13C Ala1583Thr A1583T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13C Ile1452Val I1452V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VPS13C Ile1495Val I1495V not reviewed Insufficiently evaluated not reviewed unknown Array rs11629598 668 10738 0.062209 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - VPS13C Tyr1259Cys Y1259C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS13C Tyr1302Cys Y1302C not reviewed Insufficiently evaluated not reviewed unknown Array rs2303405 711 10758 0.0660904 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VPS13C Ile1089Val I1089V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VPS13C Ile1132Val I1132V not reviewed Insufficiently evaluated not reviewed unknown Array rs3784635 202 10758 0.0187767 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - VPS13C Arg931Lys R931K not reviewed Insufficiently evaluated not reviewed unknown Array rs3784634 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VPS13C Arg974Lys R974K not reviewed Insufficiently evaluated not reviewed unknown Array rs3784634 7201 10740 0.670484 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - VPS13C Gln714His Q714H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VPS13C Gln757His Q757H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - VPS13C Thr542Pro T542P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 4 Y 1 N - - VPS13C Thr585Pro T585P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - VPS13C Trp539Cys W539C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VPS13C Trp582Cys W582C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - VPS13C Arg153His R153H not reviewed Insufficiently evaluated not reviewed unknown Array rs12595158 360 10752 0.0334821 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - VPS13D Lys177Asn K177N not reviewed Insufficiently evaluated not reviewed unknown Array rs72864967 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - VPS13D Ile205Val I205V not reviewed Insufficiently evaluated not reviewed unknown Array rs61774897 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VPS13D Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array rs12057307 368 10758 0.0342071 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 2 - 4 - - VPS13D Asn326Ser N326S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - VPS13D Gln410Leu Q410L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VPS13D Asn933Ile N933I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - VPS13D Asp1415Asn D1415N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - VPS13D Glu1505Val E1505V not reviewed Insufficiently evaluated not reviewed unknown Array rs4845898 1791 10758 0.166481 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - VPS13D Glu1611Lys E1611K not reviewed Insufficiently evaluated not reviewed unknown Array rs41279452 92 10758 0.00855177 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - VPS13D Ser1940Asn S1940N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - VPS16A Val380Met V380M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS16A Ile438Thr I438T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VPS18 Arg56His R56H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.089 - - 1 - 0 N - - VPS18 Arg568Leu R568L not reviewed Insufficiently evaluated not reviewed unknown Array rs60163948 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - VPS25 Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - VPS25 Ile76Val I76V not reviewed Insufficiently evaluated not reviewed unknown Array rs34494804 126 10758 0.0117122 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - VPS28 Ser62Phe S62F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 5 Y 1 - 1 - - VPS33A Lys405Asn K405N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - VPS33A Ile256Leu I256L not reviewed Insufficiently evaluated not reviewed unknown Array rs34996966 666 10758 0.0619074 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.224 - - -2 - 0 N - - VPS33B Gly514Ser G514S not reviewed Insufficiently evaluated not reviewed unknown Array rs11073964 6097 10758 0.566741 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VPS35 Pro755Gln P755Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - VPS35 Pro755Ser P755S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - VPS35 Gly146Ser G146S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - VPS37C Leu198Ser L198S not reviewed Insufficiently evaluated not reviewed unknown Array rs754382 7844 10748 0.72981 51 0 92 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VPS37C Thr8Asn T8N not reviewed Insufficiently evaluated not reviewed unknown Array 424 10758 0.0394125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - VPS37D Arg212Gly R212G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - VPS39 Lys747Asn K747N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS39 Lys747Thr K747T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VPS39 Arg687Cys R687C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VPS45 Ile82Met I82M not reviewed Insufficiently evaluated not reviewed unknown Array rs62622370 430 10758 0.0399703 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - VPS4B Lys23Met K23M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.138 - - 4 Y 0 N - - VPS52 Leu54Val L54V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - VPS53 Asn354Ser N354S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS53 Asn383Ser N383S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - 0 - 1 N - - VPS53 Leu346Arg L346R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS53 Leu375Arg L375R not reviewed Insufficiently evaluated not reviewed unknown Array rs61644407 459 10758 0.0426659 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS53 Leu299Ile L299I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VPS53 Leu328Ile L328I not reviewed Insufficiently evaluated not reviewed unknown Array rs16954056 989 10758 0.0919316 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 1 N - - VPS54 Met900Ile M900I not reviewed Insufficiently evaluated not reviewed unknown Array rs11558741 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VPS54 Met912Ile M912I not reviewed Insufficiently evaluated not reviewed unknown Array rs11558741 1580 10732 0.147223 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.881 - - -1 - 1 N - - VPS8 Ile83Val I83V not reviewed Insufficiently evaluated not reviewed unknown Array rs9830734 3877 9698 0.399773 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - VPS8 His1163Tyr H1163Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11555405 1835 9748 0.188244 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VPS8 His1165Tyr H1165Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11555405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VPS8 Asp1345Gly D1345G not reviewed Insufficiently evaluated not reviewed unknown Array 9 9552 0.000942211 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS8 Asp1347Gly D1347G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS8 Ile1362Thr I1362T not reviewed Insufficiently evaluated not reviewed unknown Array rs3821750 2076 9688 0.214286 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VPS8 Ile1364Thr I1364T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VRK2 Ile144Val I144V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VRK2 Ile167Val I167V not reviewed Insufficiently evaluated not reviewed unknown Array rs1051061 3219 10742 0.299665 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.149 - - -4 - 0 N - - VRK2 Ile49Val I49V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VRK3 Ser321Gly S321G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VRK3 Ser371Gly S371G not reviewed Insufficiently evaluated not reviewed unknown Array rs73932268 651 10758 0.0605131 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.147 - - 2 - 0 N - - VRK3 Cys238Tyr C238Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VRK3 Cys288Tyr C288Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10409482 651 10758 0.0605131 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.612 - - 6 Y 0 N - - VRK3 Ser218Leu S218L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VRK3 Ser268Leu S268L not reviewed Insufficiently evaluated not reviewed unknown Array rs10410075 650 10758 0.0604202 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.17 - - 6 Y 0 N - - VRK3 Thr138Ala T138A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VRK3 Thr188Ala T188A not reviewed Insufficiently evaluated not reviewed unknown Array rs11879620 646 10758 0.0600483 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VRK3 Phe121Leu F121L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VRK3 Phe171Leu F171L not reviewed Insufficiently evaluated not reviewed unknown Array rs11547883 651 10758 0.0605131 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VRK3 Pro105Thr P105T not reviewed Insufficiently evaluated not reviewed unknown Array rs11547882 652 10758 0.0606061 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 1 N - - VRK3 Pro55Thr P55T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VRK3 Ser59Phe S59F not reviewed Insufficiently evaluated not reviewed unknown Array rs2033262 649 10758 0.0603272 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.743 - - 5 Y 0 N - - VSIG2 Met325Val M325V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - VSIG2 Pro148Leu P148L not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - VSIG4 Tyr209Cys Y209C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - VSIG4 Tyr303Cys Y303C not reviewed Insufficiently evaluated not reviewed unknown Array 97 8761 0.0110718 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - VSIG8 Ala147Val A147V not reviewed Insufficiently evaluated not reviewed unknown Array rs41264827 184 10758 0.0171035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - VSTM1 Ser163Gly S163G not reviewed Insufficiently evaluated not reviewed unknown Array rs2433724 4525 10758 0.420617 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VSTM2B Ala56Asp A56D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VSTM2B Asp199His D199H not reviewed Insufficiently evaluated not reviewed unknown Array rs62104163 32 712 0.0449438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VSTM2L Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array 104 5982 0.0173855 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - VSX1 Arg217His R217H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 2 - 3 - - VSX1 Gly160Val G160V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - - 8 Y 1 - 5 - - VSX1 Leu159Val L159V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 - - 0 - 0 N - - VSX1 Thr140Pro T140P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.551 - - 4 Y 1 N - - VSX1 Val138Leu V138L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 0 - 0 N - - VSX2 Arg288Trp R288W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10714 9.3335e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.873 Y Y 7 Y 4 N - - VTA1 Pro9Ala P9A not reviewed Insufficiently evaluated not reviewed unknown Array rs2232299 42 10758 0.00390407 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VTI1B Arg176His R176H not reviewed Insufficiently evaluated not reviewed unknown Array rs45548534 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - VTI1B Gly168Val G168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - VTN Thr400Met T400M not reviewed Insufficiently evaluated not reviewed unknown Array rs704 5524 10758 0.513478 42 0 55 0 0 - - - - - - - - - - - - - - - - 0.242 - - 2 - 0 N - - VWA2 Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array rs9664945 2818 10758 0.261945 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - VWA2 Ile75Phe I75F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - VWA2 Glu131Gly E131G not reviewed Insufficiently evaluated not reviewed unknown Array rs597371 5984 10758 0.556237 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VWA2 Arg682Trp R682W not reviewed Insufficiently evaluated not reviewed unknown Array rs74157580 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - VWA3A Cys546Tyr C546Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55732851 1062 10132 0.104816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VWA3A Thr657Ile T657I not reviewed Insufficiently evaluated not reviewed unknown Array rs1105929 4254 10304 0.412849 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VWA3A Asn885Ser N885S not reviewed Insufficiently evaluated not reviewed unknown Array rs9937453 2582 10104 0.255542 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWA3A Phe1005Leu F1005L not reviewed Insufficiently evaluated not reviewed unknown Array rs1991020 9950 9968 0.998194 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWA3B Arg181Trp R181W not reviewed Insufficiently evaluated not reviewed unknown Array rs2305355 1110 9790 0.113381 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - VWA3B Asp365Asn D365N not reviewed Insufficiently evaluated not reviewed unknown Array 258 10248 0.0251756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VWA3B Ile513Thr I513T not reviewed Insufficiently evaluated not reviewed unknown Array 433 9940 0.0435614 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - VWA3B Leu677Val L677V not reviewed Insufficiently evaluated not reviewed unknown Array rs7601049 6135 9796 0.626276 50 0 72 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWA3B Val885Met V885M not reviewed Insufficiently evaluated not reviewed unknown Array rs11889349 5796 10120 0.572727 45 0 67 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWA3B Asp1223Glu D1223E not reviewed Insufficiently evaluated not reviewed unknown Array 431 9648 0.0446725 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - -2 - 2 N - - VWA3B Arg1245Lys R1245K not reviewed Insufficiently evaluated not reviewed unknown Array rs7587534 9342 9646 0.968484 56 0 110 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - VWA3B Thr1277Ile T1277I not reviewed Insufficiently evaluated not reviewed unknown Array rs2271038 48 10400 0.00461538 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 1 - 2 - - VWA5A Glu205Lys E205K not reviewed Insufficiently evaluated not reviewed unknown Array rs35215239 218 10758 0.020264 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 1 - 2 - - VWA5A Ser499Ile S499I not reviewed Insufficiently evaluated not reviewed unknown Array rs2276054 1393 10758 0.129485 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - VWA5A Arg506Lys R506K not reviewed Insufficiently evaluated not reviewed unknown Array rs2276053 1387 10758 0.128927 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - VWA5A Pro602Ser P602S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - VWA5A Ile612Val I612V not reviewed Insufficiently evaluated not reviewed unknown Array rs73607036 530 10758 0.0492657 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VWA5A Arg757Cys R757C not reviewed Insufficiently evaluated not reviewed unknown Array 218 10758 0.020264 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 2 N - - VWA5B1 Val238Glu V238E not reviewed Insufficiently evaluated not reviewed unknown Array 148 3234 0.0457638 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VWA5B1 Asn469Ser N469S not reviewed Insufficiently evaluated not reviewed unknown Array rs2072752 480 3234 0.148423 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWA5B1 Lys634Arg K634R not reviewed Insufficiently evaluated not reviewed unknown Array rs10916769 606 3234 0.187384 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - VWA5B1 Arg765Gly R765G not reviewed Insufficiently evaluated not reviewed unknown Array 44 3234 0.0136054 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VWA5B1 Arg880His R880H not reviewed Insufficiently evaluated not reviewed unknown Array rs11582960 1021 3234 0.315708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VWA5B1 Arg977His R977H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744712 87 3234 0.0269017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VWA5B1 Glu1204Lys E1204K not reviewed Insufficiently evaluated not reviewed unknown Array 737 3228 0.228315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWA5B2 Gly90Ser G90S not reviewed Insufficiently evaluated not reviewed unknown Array 112 846 0.132388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - VWA5B2 Arg114Gly R114G not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VWA5B2 Pro200Ser P200S not reviewed Insufficiently evaluated not reviewed unknown Array rs902417 696 3234 0.215213 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VWA5B2 His747Tyr H747Y not reviewed Insufficiently evaluated not reviewed unknown Array 52 3232 0.0160891 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VWA5B2 Arg896Trp R896W not reviewed Insufficiently evaluated not reviewed unknown Array 7 3232 0.00216584 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VWC2 Ala120Gly A120G not reviewed Insufficiently evaluated not reviewed unknown Array rs769604 4978 8612 0.578031 25 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VWC2 Pro148Leu P148L not reviewed Insufficiently evaluated not reviewed unknown Array rs73347631 337 10536 0.0319856 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - VWCE Cys54Trp C54W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - VWDE Phe1485Cys F1485C not reviewed Insufficiently evaluated not reviewed unknown Array rs2192828 2043 3234 0.631725 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - VWDE Gln1256Lys Q1256K not reviewed Insufficiently evaluated not reviewed unknown Array rs6967385 1590 3232 0.491955 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - VWDE Val1176Leu V1176L not reviewed Insufficiently evaluated not reviewed unknown Array 38 3234 0.0117502 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWDE Val1160Leu V1160L not reviewed Insufficiently evaluated not reviewed unknown Array 50 3234 0.0154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWDE Ile1158Phe I1158F not reviewed Insufficiently evaluated not reviewed unknown Array 50 3234 0.0154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VWDE Cys1050Tyr C1050Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35171886 301 3204 0.0939451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VWDE Thr1032Met T1032M not reviewed Insufficiently evaluated not reviewed unknown Array rs2053380 2404 3212 0.748443 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VWDE Gly1009Arg G1009R not reviewed Insufficiently evaluated not reviewed unknown Array rs80272295 319 3234 0.0986395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VWDE Lys964Asn K964N not reviewed Insufficiently evaluated not reviewed unknown Array rs6460939 1593 3226 0.4938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VWDE Cys890Phe C890F not reviewed Insufficiently evaluated not reviewed unknown Array rs17165906 412 3234 0.127396 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - VWDE Glu869Lys E869K not reviewed Insufficiently evaluated not reviewed unknown Array rs17165910 413 3234 0.127706 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VWDE Tyr804His Y804H not reviewed Insufficiently evaluated not reviewed unknown Array rs3823844 444 3234 0.137291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VWDE Ser607Phe S607F not reviewed Insufficiently evaluated not reviewed unknown Array rs963323 2623 3194 0.821227 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - VWDE Arg385Stop R385X not reviewed Insufficiently evaluated not reviewed unknown Array rs17165936 426 3232 0.131807 2 0 2 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - VWDE Gly340Asp G340D not reviewed Insufficiently evaluated not reviewed unknown Array rs7793993 2421 3230 0.749536 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - VWDE Phe292Ile F292I not reviewed Insufficiently evaluated not reviewed unknown Array rs6967241 2183 3234 0.675015 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VWDE Ser142Phe S142F not reviewed Insufficiently evaluated not reviewed unknown Array rs848016 1976 3234 0.611008 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - VWDE Arg39His R39H not reviewed Insufficiently evaluated not reviewed unknown Array rs17165995 557 3234 0.172233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VWF Arg2287Trp R2287W pathogenic Insufficiently evaluated pathogenic unknown Array rs61750625 25 10758 0.00232385 2 0 2 5 5 2 Y 1 Y - - - - - - - - Y - - - 1.0 Y Y 7 Y von Willebrand Disease 2 190 0 0 - 5 - 5 - - This variant is associated with von Willebrand disease. VWF Arg2185Gln R2185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229446 750 10758 0.0697156 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 - 4 - - VWF Ala2178Ser A2178S not reviewed Insufficiently evaluated not reviewed unknown Array rs34230288 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.381 Y Y -1 - 4 - 1 - - VWF Pro1725Ser P1725S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.082 Y Y 3 - 2 N - - VWF Val1565Leu V1565L not reviewed Insufficiently evaluated not reviewed unknown Array rs56286209 639 10758 0.0593977 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.038 Y Y 0 - 3 - 2 - - VWF Ser1506Leu S1506L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 1 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 5 - 9 - - This variant is implicated in von Willebrand Disease. VWF Asp1472His D1472H not reviewed Insufficiently evaluated not reviewed unknown Array rs1800383 1864 10708 0.174075 16 0 19 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 - 10 - - VWF Thr1381Ala T1381A not reviewed Insufficiently evaluated not reviewed unknown Array rs216311 7655 10758 0.711563 39 0 66 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 - 1 - - VWF Gln852Arg Q852R not reviewed Insufficiently evaluated not reviewed unknown Array rs216321 9938 10758 0.923778 56 0 104 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 - 6 - - VWF Ala837Asp A837D not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 5 Y 2 N - - VWF His817Gln H817Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57950734 415 10758 0.0385759 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -1 - 5 - 10 - - VWF Thr789Ala T789A not reviewed Insufficiently evaluated not reviewed unknown Array rs1063856 4637 10758 0.431028 39 0 58 0 0 2 Y - - - - - - - - - - Y - - - 0.004 Y Y 1 - 3 - 1 - - VWF Ser761Asn S761N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.101 Y Y 0 - 3 - 1 - - VWF Met740Ile M740I not reviewed Insufficiently evaluated not reviewed unknown Array rs16932374 657 10758 0.0610708 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 3 - 10 - - VWF His484Arg H484R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800378 5415 10756 0.50344 37 0 51 0 0 2 Y - - - - - - - - - - Y - - - 0.83 Y Y 1 - 3 - 1 - - VWF Val471Ile V471I not reviewed Insufficiently evaluated not reviewed unknown Array rs1800377 1272 10758 0.118238 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - VWF Asn318Lys N318K not reviewed Insufficiently evaluated not reviewed unknown Array rs1800387 1737 10758 0.161461 18 0 20 0 0 - - - - - - - - - - - - Y - - - 0.012 Y Y 1 - 3 - 3 - - VWF Gly131Ser G131S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - WAC Thr206Ala T206A not reviewed Insufficiently evaluated not reviewed unknown Array rs2232791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WAC Thr309Ala T309A not reviewed Insufficiently evaluated not reviewed unknown Array rs2232791 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WAC Gln413Pro Q413P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WAC Gln516Pro Q516P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - WAPAL Val124Ile V124I not reviewed Insufficiently evaluated not reviewed unknown Array rs10887621 2378 10758 0.221045 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - WARS Asp428Asn D428N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WARS Asp469Asn D469N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WARS Ala392Thr A392T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - WARS Ala433Thr A433T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WARS Ala13Ser A13S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 10 - - WARS Ala54Ser A54S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 10 - - WARS2 Ala267Pro A267P not reviewed Insufficiently evaluated not reviewed unknown Array rs3790549 682 10758 0.0633947 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - WASF3 Val245Ile V245I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - WASF3 Ser412Pro S412P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WASF3 Ser415Leu S415L not reviewed Insufficiently evaluated not reviewed unknown Array rs17084492 354 10720 0.0330224 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.061 - - 6 Y 1 - 4 - - WASH1 Val439Ala V439A not reviewed Insufficiently evaluated not reviewed unknown Array 258 6966 0.037037 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WBP1 Cys49Trp C49W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - WBP2NL Gln5Glu Q5E not reviewed Insufficiently evaluated not reviewed unknown Array rs17002790 363 10758 0.0337423 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - WBP2NL Asp121Gly D121G not reviewed Insufficiently evaluated not reviewed unknown Array rs133335 5061 10758 0.470441 41 0 57 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - WBP2NL Phe140Cys F140C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 4 Y 0 N - - WBP2NL Gly272Arg G272R not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 1 N - - WBP2NL Gln285His Q285H not reviewed Insufficiently evaluated not reviewed unknown Array rs2301521 8070 10758 0.750139 51 0 90 0 0 - - - - - - - - - - - - - - - - 0.14 - - -1 - 0 N - - WBSCR16 Arg30Gly R30G not reviewed Insufficiently evaluated not reviewed unknown Array rs6955671 3944 6440 0.612422 9 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WBSCR27 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73369956 376 10758 0.0349507 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WBSCR27 Arg216Trp R216W not reviewed Insufficiently evaluated not reviewed unknown Array rs13246460 7152 10758 0.664808 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WBSCR27 Pro213Leu P213L not reviewed Insufficiently evaluated not reviewed unknown Array rs11543598 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - WBSCR27 Ser171Trp S171W not reviewed Insufficiently evaluated not reviewed unknown Array rs13232463 7148 10756 0.664559 30 0 43 0 0 - - - - - - - - - - - - - - - - 0.581 - - 7 Y 0 N - - WBSCR27 Ala150Val A150V not reviewed Insufficiently evaluated not reviewed unknown Array rs73369964 386 10758 0.0358803 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - WBSCR27 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array rs13241921 7033 10684 0.658274 37 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WBSCR28 Ile14Asn I14N not reviewed Insufficiently evaluated not reviewed unknown Array rs11770052 6179 9728 0.635177 31 0 45 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WBSCR28 Gly67Val G67V not reviewed Insufficiently evaluated not reviewed unknown Array rs56933025 7 9610 0.000728407 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - WBSCR28 Trp78Arg W78R not reviewed Insufficiently evaluated not reviewed unknown Array rs13227841 5911 9688 0.610136 38 0 53 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 0 N - - WBSCR28 Ala100Val A100V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - WDFY4 Ser214Pro S214P not reviewed Insufficiently evaluated not reviewed unknown Array rs7072606 263 3234 0.0813234 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WDFY4 Leu305Met L305M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - WDFY4 Thr483Ser T483S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDFY4 Thr483Ile T483I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDFY4 Leu484Val L484V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDFY4 Val1359Ile V1359I not reviewed Insufficiently evaluated not reviewed unknown Array rs41282009 110 3234 0.0340136 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDFY4 Ser1528Pro S1528P not reviewed Insufficiently evaluated not reviewed unknown Array rs2170132 1298 3234 0.401361 40 0 54 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WDFY4 Arg1816Gln R1816Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7097397 1082 3234 0.33457 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDFY4 Ala1833Ser A1833S not reviewed Insufficiently evaluated not reviewed unknown Array rs12268007 455 3234 0.140693 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - WDFY4 Ala1938Val A1938V not reviewed Insufficiently evaluated not reviewed unknown Array rs56400730 20 3234 0.00618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDFY4 Gly2034Ser G2034S not reviewed Insufficiently evaluated not reviewed unknown Array rs6537579 526 3234 0.162647 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WDFY4 Glu2158Asp E2158D not reviewed Insufficiently evaluated not reviewed unknown Array rs41283281 187 3234 0.0578231 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - WDFY4 Gly2428Ala G2428A not reviewed Insufficiently evaluated not reviewed unknown Array rs41283283 191 3234 0.05906 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDFY4 Ser2527Asn S2527N not reviewed Insufficiently evaluated not reviewed unknown Array rs2663046 3178 3234 0.982684 56 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDFY4 Val2718Met V2718M not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDFY4 Ala3022Thr A3022T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733240 316 3234 0.0977118 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDFY4 Pro3118Leu P3118L not reviewed Insufficiently evaluated not reviewed unknown Array rs2292584 1531 3234 0.473408 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDHD1 Glu1102Lys E1102K not reviewed Insufficiently evaluated not reviewed unknown Array rs41309252 170 10752 0.015811 6 0 5 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - WDHD1 Glu979Lys E979K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDHD1 Pro515Ala P515A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDHD1 Pro638Ala P638A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741224 768 10758 0.0713887 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - WDHD1 Leu288Pro L288P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDHD1 Leu411Pro L411P not reviewed Insufficiently evaluated not reviewed unknown Array rs17128116 280 10758 0.0260271 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 1 N - - WDHD1 Ser270Cys S270C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDHD1 Ser393Cys S393C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - WDHD1 Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDHD1 Ile235Val I235V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR1 Ile185Val I185V not reviewed Insufficiently evaluated not reviewed unknown Array rs13441 6192 9932 0.623439 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - WDR12 Ile75Val I75V not reviewed Insufficiently evaluated not reviewed unknown Array rs35212307 1040 10758 0.0966722 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 5 - - WDR13 His325Arg H325R not reviewed Insufficiently evaluated not reviewed unknown Array rs235842 8759 8761 0.999772 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR16 Asp179Glu D179E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR16 Asp247Glu D247E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - WDR16 Glu268Lys E268K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR16 Glu336Lys E336K not reviewed Insufficiently evaluated not reviewed unknown Array rs6503235 6876 10758 0.639152 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR17 Thr393Ser T393S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR17 Thr417Ser T417S not reviewed Insufficiently evaluated not reviewed unknown Array rs73874936 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.674 - - -2 - 1 N - - WDR17 Ile394Val I394V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - WDR17 Ile418Val I418V not reviewed Insufficiently evaluated not reviewed unknown Array rs59567138 207 10758 0.0192415 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.674 - - -4 - 2 - 2 - - WDR17 Ala499Ser A499S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR17 Ala523Ser A523S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - WDR17 Ala790Thr A790T not reviewed Insufficiently evaluated not reviewed unknown Array rs4690661 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR17 Ala814Thr A814T not reviewed Insufficiently evaluated not reviewed unknown Array rs4690661 10545 10758 0.980201 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR17 Cys889Ser C889S not reviewed Insufficiently evaluated not reviewed unknown Array rs7693453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR17 Cys913Ser C913S not reviewed Insufficiently evaluated not reviewed unknown Array rs7693453 2448 10758 0.227552 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.526 - - 3 - 0 N - - WDR17 Leu1020Met L1020M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - WDR17 Leu1044Met L1044M not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - WDR17 Arg1133Gln R1133Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR17 Arg1157Gln R1157Q not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - WDR17 Ala1191Thr A1191T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR17 Ala1215Thr A1215T not reviewed Insufficiently evaluated not reviewed unknown Array rs17625943 2688 10756 0.249907 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - WDR17 Ala1271Thr A1271T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR17 Ala1295Thr A1295T not reviewed Insufficiently evaluated not reviewed unknown Array rs11736872 2693 10758 0.250325 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR18 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - WDR18 Ile62Val I62V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732720 757 10128 0.0747433 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.895 - - -4 - 1 N - - WDR18 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array rs2158367 10249 10714 0.956599 36 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR18 Val264Ile V264I not reviewed Insufficiently evaluated not reviewed unknown Array rs11538683 1071 10644 0.10062 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - WDR19 Gly1084Ser G1084S not reviewed Insufficiently evaluated not reviewed unknown Array rs16995209 352 10070 0.0349553 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.861 - - 2 - 3 - 3 - - WDR20 Gly320Cys G320C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - WDR20 Gly383Cys G383C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - WDR20 Gly444Cys G444C not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 7 Y 1 - 3 - - WDR21A Trp22Cys W22C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR21A Lys132Thr K132T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - WDR21A Lys193Thr K193T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - WDR21A Lys93Thr K93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - WDR21A Ser175Cys S175C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR21A Ser245Cys S245C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR21A Ser345Cys S345C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR21A Arg277Cys R277C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR21A Arg347Cys R347C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR21A Arg447Cys R447C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR22 Arg577Cys R577C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR22 Leu148Phe L148F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR23 Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR23 Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR23 Val195Ile V195I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR23 Val221Ile V221I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR25 Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array rs2273801 536 10758 0.0498234 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - WDR25 Trp88Arg W88R not reviewed Insufficiently evaluated not reviewed unknown Array rs2181170 10742 10758 0.998513 56 0 111 0 0 - - - - - - - - - - - - - - - - 0.033 - - 7 Y 0 N - - WDR25 Thr119Met T119M not reviewed Insufficiently evaluated not reviewed unknown Array rs34331240 534 10758 0.0496375 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - WDR25 His149Arg H149R not reviewed Insufficiently evaluated not reviewed unknown Array rs2273800 7767 10758 0.721974 47 0 71 0 0 - - - - - - - - - - - - - - - - 0.706 - - 1 - 0 N - - WDR27 Ala727Val A727V not reviewed Insufficiently evaluated not reviewed unknown Array rs9396946 574 9918 0.0578746 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WDR27 Arg467His R467H not reviewed Insufficiently evaluated not reviewed unknown Array rs3800544 770 10392 0.0740955 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR27 Gly218Ser G218S not reviewed Insufficiently evaluated not reviewed unknown Array rs41265385 1334 10488 0.127193 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WDR27 Leu133Pro L133P not reviewed Insufficiently evaluated not reviewed unknown Array rs4236176 3115 9918 0.314075 37 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR3 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array rs60920480 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - WDR3 Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array rs34973445 642 10758 0.0596765 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - WDR3 Pro234Ala P234A not reviewed Insufficiently evaluated not reviewed unknown Array rs3738420 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 4 - - WDR31 Cys132Ser C132S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR31 Cys256Ser C256S not reviewed Insufficiently evaluated not reviewed unknown Array rs41307479 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR31 Cys257Ser C257S not reviewed Insufficiently evaluated not reviewed unknown Array rs41307479 1667 10758 0.154954 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 1 N - - WDR31 Pro112Ser P112S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR31 Pro113Ser P113S not reviewed Insufficiently evaluated not reviewed unknown Array rs10817479 518 10758 0.0481502 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - WDR33 Pro839Ala P839A not reviewed Insufficiently evaluated not reviewed unknown Array rs61730415 874 10756 0.081257 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WDR33 Cys312Trp C312W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR34 Trp60Gly W60G not reviewed Insufficiently evaluated not reviewed unknown Array rs4837292 4745 4756 0.997687 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR35 Arg1007Cys R1007C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR35 Arg1018Cys R1018C not reviewed Insufficiently evaluated not reviewed unknown Array rs56395266 152 10758 0.014129 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - WDR35 Glu972Gly E972G not reviewed Insufficiently evaluated not reviewed unknown Array rs1191778 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR35 Glu983Gly E983G not reviewed Insufficiently evaluated not reviewed unknown Array rs1191778 3389 10758 0.315021 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - WDR35 Ala867Thr A867T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR35 Ala878Thr A878T not reviewed Insufficiently evaluated not reviewed unknown Array rs2293669 701 10758 0.0651608 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - WDR35 Arg689His R689H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR35 Arg700His R700H not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.82 - - 1 - 1 N - - WDR35 Gln18Arg Q18R not reviewed Insufficiently evaluated not reviewed unknown Array rs1060742 711 10758 0.0660904 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR36 Asp33Glu D33E pathogenic Insufficiently evaluated pathogenic other Array 60 10756 0.00557828 0 0 0 2 2 1 Y - - 3 Y - - 2 Y 3 Y Y - - - 0.068 Y - -2 - Primary Open Angle Glaucoma (Adult Onset) 8 391 1 376 7.693 2 - 10 - - Found in 8/399 patients with Primary open-angle glaucoma and 1/376 controls it was initially labeled as incompletely penetrant. Later it was reported as a susceptibility factor. WDR36 Ala163Val A163V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10752 0.00344122 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.504 Y - 2 - 3 - 10 - - WDR36 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs11241095 2548 10748 0.237067 20 0 23 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 - 10 - - WDR36 Met671Val M671V not reviewed Insufficiently evaluated not reviewed unknown Array rs11956837 275 10756 0.0255671 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.065 Y - 0 - 2 - 8 - - WDR37 Ala461Ser A461S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - -1 - 0 N - - WDR38 His172Arg H172R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274970 9707 10124 0.958811 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR38 Ala193Gly A193G not reviewed Insufficiently evaluated not reviewed unknown Array rs10760381 10012 10220 0.979648 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR4 Arg390Gln R390Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6586250 2928 10758 0.27217 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - WDR4 Pro266Ser P266S not reviewed Insufficiently evaluated not reviewed unknown Array rs15736 4935 10632 0.464165 32 0 45 0 0 - - - - - - - - - - - - - - - - 0.642 - - 3 - 0 N - - WDR4 Lys71Asn K71N not reviewed Insufficiently evaluated not reviewed unknown Array rs2248490 6201 10758 0.576408 42 0 61 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - WDR40A His234Tyr H234Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR40A Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR40B Asp19Gly D19G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - WDR40C His147Gln H147Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR41 Val329Ile V329I not reviewed Insufficiently evaluated not reviewed unknown Array rs33204 5430 10758 0.504741 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - WDR42A Tyr395Ser Y395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR42A Arg224Pro R224P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR43 Val88Ile V88I not reviewed Insufficiently evaluated not reviewed unknown Array rs73920398 23 9518 0.00241647 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR44 Ala289Thr A289T not reviewed Insufficiently evaluated not reviewed unknown Array rs17271416 1059 8761 0.120877 9 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR45L His165Arg H165R not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - WDR46 Val341Ala V341A not reviewed Insufficiently evaluated not reviewed unknown Array rs14398 1126 10758 0.104666 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 1 N - - WDR46 Leu259Ile L259I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - -2 - 2 N - - WDR46 Arg194Gln R194Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - WDR49 Leu651Pro L651P not reviewed Insufficiently evaluated not reviewed unknown Array rs13060964 3464 10758 0.321993 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR49 Ala140Gly A140G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.257 - - 1 - 1 N - - WDR49 Lys53Glu K53E not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - WDR49 Arg10His R10H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - WDR51A Gln348His Q348H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - WDR51A Val85Leu V85L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR52 Pro745Leu P745L not reviewed Insufficiently evaluated not reviewed unknown Array rs58988763 270 10758 0.0250976 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - WDR52 Lys284Asn K284N not reviewed Insufficiently evaluated not reviewed unknown Array rs16845107 801 10758 0.0744562 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR52 Asn258Lys N258K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - WDR52 Lys53Glu K53E not reviewed Insufficiently evaluated not reviewed unknown Array rs59722850 2022 10756 0.187988 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR53 Gly299Asp G299D not reviewed Insufficiently evaluated not reviewed unknown Array rs61730533 662 10758 0.0615356 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - WDR54 His38Tyr H38Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - WDR54 Leu267Val L267V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.41 - - 0 - 1 N - - WDR55 Arg88Stop R88X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WDR55 Cys151Arg C151R not reviewed Insufficiently evaluated not reviewed unknown Array rs2530245 10212 10758 0.949247 56 0 105 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - WDR55 Ser210Phe S210F not reviewed Insufficiently evaluated not reviewed unknown Array rs2286394 1952 10758 0.181446 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.481 - - 5 Y 0 N - - WDR55 Tyr235Cys Y235C not reviewed Insufficiently evaluated not reviewed unknown Array rs35983033 697 10758 0.064789 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 1 N - - WDR59 Thr703Lys T703K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - WDR59 Leu368Val L368V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734553 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - WDR59 Tyr221Ser Y221S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - WDR6 Pro173Leu P173L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - WDR60 Val164Ile V164I not reviewed Insufficiently evaluated not reviewed unknown Array 365 7614 0.047938 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR60 Asn225Lys N225K not reviewed Insufficiently evaluated not reviewed unknown Array rs2709859 9568 9662 0.990271 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR60 Gln273Arg Q273R not reviewed Insufficiently evaluated not reviewed unknown Array rs2788478 4461 9672 0.461228 44 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR62 Leu48Phe L48F not reviewed Insufficiently evaluated not reviewed unknown Array 71 10152 0.0069937 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - WDR62 His761Tyr H761Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61744321 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.63 - - -1 - 1 N - - WDR62 Leu850Ser L850S not reviewed Insufficiently evaluated not reviewed unknown Array rs2285745 7243 10756 0.673392 51 0 75 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WDR62 Met1129Arg M1129R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - WDR62 Met1134Arg M1134R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741470 370 10758 0.034393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR62 Arg1220His R1220H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 1 - 1 - - WDR62 Arg1225His R1225H not reviewed Insufficiently evaluated not reviewed unknown Array rs61743589 271 10758 0.0251906 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 1 - - WDR62 Gln1305Leu Q1305L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR62 Gln1310Leu Q1310L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074435 7187 10758 0.668061 50 0 72 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - WDR62 Gln1311Glu Q1311E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 1 - 2 - - WDR62 Gln1316Glu Q1316E not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - WDR62 Gly1370Ser G1370S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - WDR62 Gly1375Ser G1375S not reviewed Insufficiently evaluated not reviewed unknown Array rs17851503 340 10758 0.0316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - WDR62 Leu1385Phe L1385F not reviewed Insufficiently evaluated not reviewed unknown Array rs1008328 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR62 Leu1390Phe L1390F not reviewed Insufficiently evaluated not reviewed unknown Array rs1008328 8062 10758 0.749396 52 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR63 Pro3Ala P3A not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR63 Lys197Gln K197Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR63 Ser444Gly S444G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR63 Ser444Ile S444I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR63 Lys445Stop K445X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WDR63 Thr674Ala T674A not reviewed Insufficiently evaluated not reviewed unknown Array rs17121745 514 10758 0.0477784 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR63 Arg798His R798H not reviewed Insufficiently evaluated not reviewed unknown Array rs709783 2330 10756 0.216623 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR64 Asn20Asp N20D not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR64 Val317Ala V317A not reviewed Insufficiently evaluated not reviewed unknown Array rs74150406 940 10758 0.0873768 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - WDR64 Arg367Gln R367Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12095445 1956 10758 0.181818 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR64 Arg505Trp R505W not reviewed Insufficiently evaluated not reviewed unknown Array rs12074374 1975 10758 0.183584 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR64 Tyr546His Y546H not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR65 Thr126Met T126M not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - WDR65 Asn241Asp N241D not reviewed Insufficiently evaluated not reviewed unknown Array rs663824 5605 10758 0.521008 45 0 67 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - WDR65 Cys345Ser C345S not reviewed Insufficiently evaluated not reviewed unknown Array rs11210805 421 10758 0.0391337 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 2 N - - WDR65 Ser614Leu S614L not reviewed Insufficiently evaluated not reviewed unknown Array rs41301054 299 10758 0.0277933 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.406 - - 6 Y 1 N - - WDR65 Thr667Ala T667A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - WDR66 Gly66Glu G66E not reviewed Insufficiently evaluated not reviewed unknown Array rs12824001 701 9908 0.0707509 4 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WDR66 Val307Ile V307I not reviewed Insufficiently evaluated not reviewed unknown Array 339 10158 0.0333727 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - WDR66 Thr383Met T383M not reviewed Insufficiently evaluated not reviewed unknown Array rs34768683 736 10122 0.0727129 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.787 - - 2 - 0 N - - WDR66 Arg417Gln R417Q not reviewed Insufficiently evaluated not reviewed unknown Array 322 9430 0.0341463 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - WDR66 Leu445Phe L445F not reviewed Insufficiently evaluated not reviewed unknown Array rs11043265 1914 9656 0.198219 26 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR66 Leu650Phe L650F not reviewed Insufficiently evaluated not reviewed unknown Array rs17852561 2222 9688 0.229356 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR66 Val870Leu V870L not reviewed Insufficiently evaluated not reviewed unknown Array rs1169081 2404 9874 0.243468 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR66 Phe940Leu F940L not reviewed Insufficiently evaluated not reviewed unknown Array 542 10476 0.0517373 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR67 Gln718Lys Q718K not reviewed Insufficiently evaluated not reviewed unknown Array rs55959319 212 10758 0.0197063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR67 Ala1065Thr A1065T not reviewed Insufficiently evaluated not reviewed unknown Array rs34994118 232 10758 0.0215653 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - WDR67 Ala969Thr A969T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR68 Gly186Arg G186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR69 Thr27Ile T27I not reviewed Insufficiently evaluated not reviewed unknown Array rs11894733 635 10758 0.0590258 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 0 N - - WDR69 Thr121Ser T121S not reviewed Insufficiently evaluated not reviewed unknown Array rs1715828 2036 10758 0.189255 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.852 - - -2 - 1 N - - WDR72 Ser833Ala S833A not reviewed Insufficiently evaluated not reviewed unknown Array rs16966320 1567 10748 0.145795 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - WDR72 Leu819Phe L819F not reviewed Insufficiently evaluated not reviewed unknown Array rs17730281 2135 10756 0.198494 18 0 19 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - WDR72 Lys781Glu K781E not reviewed Insufficiently evaluated not reviewed unknown Array rs60404950 1569 10758 0.145845 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - WDR72 Lys399Gln K399Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35258188 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 1 - 3 - - WDR72 Pro306Leu P306L not reviewed Insufficiently evaluated not reviewed unknown Array rs551225 4358 10758 0.405094 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - WDR72 Met100Val M100V not reviewed Insufficiently evaluated not reviewed unknown Array rs690346 10304 10758 0.957799 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR73 Arg249His R249H not reviewed Insufficiently evaluated not reviewed unknown Array rs11073619 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - WDR75 Glu576Ala E576A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - WDR76 Ser153Ala S153A not reviewed Insufficiently evaluated not reviewed unknown Array rs678084 8478 10758 0.788065 54 0 92 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - WDR77 Pro8Arg P8R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.526 - - 5 Y 1 N - - WDR78 Arg832Gln R832Q not reviewed Insufficiently evaluated not reviewed unknown Array rs482082 5590 10758 0.519613 42 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR78 Gly679Asp G679D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR78 Cys33Trp C33W not reviewed Insufficiently evaluated not reviewed unknown Array rs3008858 8282 10758 0.769846 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR78 Gly16Ala G16A not reviewed Insufficiently evaluated not reviewed unknown Array rs1886686 8326 10758 0.773936 47 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR8 Ser407Leu S407L not reviewed Insufficiently evaluated not reviewed unknown Array 255 10738 0.0237474 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - WDR8 Ile331Met I331M not reviewed Insufficiently evaluated not reviewed unknown Array rs2760320 527 10758 0.0489868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - WDR8 Arg172Gln R172Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10748 0.000651283 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.428 - - 0 - 1 N - - WDR86 Met355Thr M355T not reviewed Insufficiently evaluated not reviewed unknown Array rs4141455 2767 3168 0.873422 19 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WDR87 Arg2843Gln R2843Q not reviewed Insufficiently evaluated not reviewed unknown Array 548 3234 0.16945 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR87 Arg2737Trp R2737W not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR87 His2570Leu H2570L not reviewed Insufficiently evaluated not reviewed unknown Array rs10408510 2568 3234 0.794063 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WDR87 His2449Arg H2449R not reviewed Insufficiently evaluated not reviewed unknown Array rs62110236 121 3234 0.037415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR87 Lys2270Glu K2270E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR87 Val2262Glu V2262E not reviewed Insufficiently evaluated not reviewed unknown Array rs7252765 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR87 His2225Gln H2225Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR87 Arg2141Trp R2141W not reviewed Insufficiently evaluated not reviewed unknown Array rs34785154 778 3234 0.240569 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR87 Arg2109Cys R2109C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR87 Asn1885Lys N1885K not reviewed Insufficiently evaluated not reviewed unknown Array rs10422056 2568 3234 0.794063 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR87 Arg1583Gln R1583Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6508750 1509 3234 0.466605 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR87 Ala1499Ser A1499S not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR87 Ile1254Val I1254V not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR87 Gly602Ala G602A not reviewed Insufficiently evaluated not reviewed unknown Array rs3894129 2567 3234 0.793754 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WDR88 Asp239Ala D239A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 5 Y 2 N - - WDR88 Cys310Arg C310R not reviewed Insufficiently evaluated not reviewed unknown Array rs11881580 2285 10758 0.2124 24 0 31 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - WDR88 Trp348Leu W348L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - WDR90 Ser165Thr S165T not reviewed Insufficiently evaluated not reviewed unknown Array rs13337278 2058 10184 0.202082 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - WDR90 Pro250Leu P250L not reviewed Insufficiently evaluated not reviewed unknown Array rs11642546 2322 9974 0.232805 26 0 30 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - WDR90 Gly371Ser G371S not reviewed Insufficiently evaluated not reviewed unknown Array 239 10334 0.0231275 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR90 Val537Ala V537A not reviewed Insufficiently evaluated not reviewed unknown Array rs3803697 5342 10632 0.502445 38 0 60 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - WDR90 His899Gln H899Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45613635 1994 10532 0.189328 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - WDR90 Pro1001Thr P1001T not reviewed Insufficiently evaluated not reviewed unknown Array rs4984906 5372 10368 0.518133 37 0 61 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - WDR90 Arg1492His R1492H not reviewed Insufficiently evaluated not reviewed unknown Array rs7190775 4794 10074 0.475879 27 0 44 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 1 N - - WDR90 Cys1555Arg C1555R not reviewed Insufficiently evaluated not reviewed unknown Array rs11866949 2955 10148 0.29119 28 0 41 0 0 - - - - - - - - - - - - - - - - 0.138 - - 8 Y 0 N - - WDR91 Pro257Leu P257L not reviewed Insufficiently evaluated not reviewed unknown Array rs292592 7133 10758 0.663041 44 0 67 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR92 Met241Val M241V not reviewed Insufficiently evaluated not reviewed unknown Array rs13009282 2413 10758 0.224298 24 0 26 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - WDR93 Leu66His L66H not reviewed Insufficiently evaluated not reviewed unknown Array rs4287542 4970 10758 0.461982 42 0 56 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - WDR93 Tyr136His Y136H not reviewed Insufficiently evaluated not reviewed unknown Array rs73483693 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.427 - - -1 - 1 N - - WDR93 Ser254Thr S254T not reviewed Insufficiently evaluated not reviewed unknown Array rs7163367 4877 10758 0.453337 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - WDR93 Thr352Met T352M not reviewed Insufficiently evaluated not reviewed unknown Array rs7178234 307 10758 0.0285369 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - WDR93 Tyr591Ser Y591S not reviewed Insufficiently evaluated not reviewed unknown Array rs35365973 380 10758 0.0353226 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - WDSOF1 Arg47Ser R47S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDSOF1 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDSOF1 Ile194Val I194V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDSUB1 Ile390Val I390V not reviewed Insufficiently evaluated not reviewed unknown Array 506 10758 0.0470348 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - WDSUB1 Phe328Ser F328S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - WDSUB1 Arg320Ser R320S not reviewed Insufficiently evaluated not reviewed unknown Array rs7591849 6709 10758 0.623629 45 0 63 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WDSUB1 Lys215Thr K215T not reviewed Insufficiently evaluated not reviewed unknown Array rs16843852 1731 10756 0.160933 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 1 N - - WDSUB1 Asp187Asn D187N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -1 - 0 N - - WDSUB1 Pro173Leu P173L not reviewed Insufficiently evaluated not reviewed unknown Array rs174264 10757 10758 0.999907 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDTC1 Glu346Gly E346G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDYHV1 Ile32Val I32V not reviewed Insufficiently evaluated not reviewed unknown Array rs6999234 3812 10758 0.354341 37 0 42 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - WDYHV1 Asn93Ser N93S not reviewed Insufficiently evaluated not reviewed unknown Array rs7014678 3812 10758 0.354341 35 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDYHV1 Phe116Ile F116I not reviewed Insufficiently evaluated not reviewed unknown Array rs6470147 3814 10758 0.354527 37 0 42 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - WDYHV1 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array rs3824250 3811 10758 0.354248 37 0 42 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 1 N - - WFDC1 Lys217Arg K217R not reviewed Insufficiently evaluated not reviewed unknown Array rs12933084 3374 10758 0.313627 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - WFDC10A Gln30Leu Q30L not reviewed Insufficiently evaluated not reviewed unknown Array rs58353703 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - WFDC10B Leu8Pro L8P not reviewed Insufficiently evaluated not reviewed unknown Array rs232729 7574 10758 0.704034 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WFDC3 Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WFDC3 Arg63Leu R63L not reviewed Insufficiently evaluated not reviewed unknown Array rs73122754 506 10758 0.0470348 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - WFDC3 His36Asp H36D not reviewed Insufficiently evaluated not reviewed unknown Array rs6032538 7550 10758 0.701803 50 0 76 0 0 - - - - - - - - - - - - - - - - 0.207 - - 3 - 0 N - - WFDC5 His97Tyr H97Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17422688 1363 10758 0.126696 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - WFDC8 Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - WFDC8 Asn137Ser N137S not reviewed Insufficiently evaluated not reviewed unknown Array rs2250860 4353 10758 0.404629 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WFDC8 Met96Thr M96T not reviewed Insufficiently evaluated not reviewed unknown Array rs2272955 1018 10758 0.0946273 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - WFDC8 Met39Thr M39T not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WFDC9 Asn27Thr N27T not reviewed Insufficiently evaluated not reviewed unknown Array rs2245898 3742 10758 0.347834 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WFIKKN1 Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10718 0.000933009 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.121 - - 7 Y 0 N - - WFIKKN2 Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array 87 10728 0.00810962 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.163 - - 0 - 1 - 3 - - WFIKKN2 Val96Met V96M not reviewed Insufficiently evaluated not reviewed unknown Array rs35300894 513 10758 0.0476854 12 0 11 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - WFS1 Val333Ile V333I not reviewed Insufficiently evaluated not reviewed unknown Array rs1801212 8607 10758 0.800056 52 0 93 0 0 2 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 - 2 - - WFS1 Cys426Tyr C426Y pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array rs35218685 13 10758 0.0012084 3 0 3 2 2 1 Y - - 0 Y 0 Y 3 Y 3 Y Y - - - 0.464 Y Y 6 Y 4 Y 1 0 Reported in a single case of familial depression, but no linkage data and no statistical significance. WFS1 Arg456His R456H benign Low clinical importance, Uncertain benign unknown Array rs1801208 489 10758 0.0454545 4 0 4 0 0 0 - 0 - 0 - 0 - 0 - 0 - Y - - - 0.994 Y Y 1 - 5 - 10 0 0 Reported benign in ClinVar WFS1 Gly576Ser G576S not reviewed Insufficiently evaluated not reviewed unknown Array rs1805069 73 10758 0.00678565 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.688 Y Y 2 - 4 - 8 - - WFS1 Gln584His Q584H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -1 - 2 N - - WFS1 Arg611His R611H not reviewed Low clinical importance, Uncertain not reviewed recessive Array rs734312 4308 10758 0.400446 50 0 68 3 3 4 Y 1 Y 2 Y - - 3 Y 4 Y Y - - - 0.99 Y Y 1 - 4 - 9 - - This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.). WFS1 Asp866Asn D866N not reviewed Insufficiently evaluated not reviewed unknown Array rs3821945 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.105 Y Y -1 - 3 - 3 - - WFS1 Val871Met V871M pathogenic Insufficiently evaluated pathogenic recessive Array rs71532874 81 10756 0.00753068 3 0 3 1 1 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 6 - - This variant was identified in one individual with autosomal recessive Wolfram syndrome in a heterozygous state and in two deaf sisters with heterozygosis, the sisters’ father, however carried the variant and was asymptomatic WHAMM Ile205Asn I205N not reviewed Insufficiently evaluated not reviewed unknown Array 90 9662 0.00931484 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - WHAMM Asn212Ser N212S not reviewed Insufficiently evaluated not reviewed unknown Array rs35270670 1830 9734 0.188001 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - WHAMM Ile504Lys I504K not reviewed Insufficiently evaluated not reviewed unknown Array 189 9872 0.0191451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - WHAMM Arg686His R686H not reviewed Insufficiently evaluated not reviewed unknown Array rs3814281 1296 10602 0.122241 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - WHAMM His736Pro H736P not reviewed Insufficiently evaluated not reviewed unknown Array rs11259953 38 10048 0.00378185 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - WHAMM His736Gln H736Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.81 - - -1 - 1 N - - WHSC1L1 Thr186Met T186M not reviewed Insufficiently evaluated not reviewed unknown Array rs13034 201 10758 0.0186838 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 1 - 2 - - WHSC2 Arg213Gln R213Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WIPF1 Pro384Ser P384S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WIPF1 Pro383Ser P383S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WIPF1 Pro198Leu P198L not reviewed Insufficiently evaluated not reviewed unknown Array rs4972450 9890 10752 0.919829 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WIPF3 Glu321Gly E321G not reviewed Insufficiently evaluated not reviewed unknown Array 232 9162 0.025322 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WIPF3 Asp435Tyr D435Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - WIPI1 Leu406Pro L406P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 7 Y 0 N - - WIPI1 Tyr223Cys Y223C not reviewed Insufficiently evaluated not reviewed unknown Array rs73359910 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - WIPI1 Thr31Ile T31I not reviewed Insufficiently evaluated not reviewed unknown Array rs883541 8475 10758 0.787786 55 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WISP1 Ser174Arg S174R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WISP1 Val184Ile V184I not reviewed Insufficiently evaluated not reviewed unknown Array rs72731540 178 10756 0.0165489 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.149 - - -4 - 0 N - - WISP1 Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array rs73711822 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 0 N - - WISP1 Ala118Ser A118S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - WISP1 Ala205Ser A205S not reviewed Insufficiently evaluated not reviewed unknown Array rs35513885 517 10758 0.0480573 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - WISP2 Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array 114 10750 0.0106047 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 0 - 3 - 2 - - WISP3 Gln56His Q56H not reviewed Insufficiently evaluated not reviewed unknown Array rs1230345 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 1 - - WISP3 Gln74His Q74H not reviewed Insufficiently evaluated not reviewed unknown Array rs1230345 3599 10758 0.334542 30 0 34 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - WISP3 Asn178Ile N178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - WISP3 Asn196Ile N196I not reviewed Insufficiently evaluated not reviewed unknown Array rs35374349 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - WIZ Ala774Val A774V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9824 0.000814332 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WNK1 Ala141Thr A141T not reviewed Insufficiently evaluated not reviewed unknown Array rs11554421 836 10348 0.0807886 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - WNK1 Thr665Ile T665I not reviewed Insufficiently evaluated not reviewed unknown Array rs2286007 598 10758 0.0555865 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - WNK1 Thr674Ala T674A not reviewed Insufficiently evaluated not reviewed unknown Array rs11833299 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - WNK1 Ser820Cys S820C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - WNK1 Thr1056Pro T1056P not reviewed Insufficiently evaluated not reviewed unknown Array rs956868 9141 10758 0.849693 55 0 97 0 0 1 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 - 1 - - WNK1 Cys1506Ser C1506S not reviewed Insufficiently evaluated not reviewed unknown Array rs7955371 10602 10758 0.985499 55 0 109 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 - 1 - - WNK1 Met1808Ile M1808I not reviewed Insufficiently evaluated not reviewed unknown Array rs12828016 4648 10758 0.432051 39 0 55 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 - 1 - - WNK1 Pro1823Leu P1823L not reviewed Insufficiently evaluated not reviewed unknown Array rs17755373 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - WNK2 Val828Met V828M not reviewed Insufficiently evaluated not reviewed unknown Array rs10761203 3923 10756 0.364727 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WNK2 Gln1112His Q1112H not reviewed Insufficiently evaluated not reviewed unknown Array rs28654199 460 10714 0.0429345 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WNK2 Lys1350Arg K1350R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - WNK4 Gly37Glu G37E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.932 Y - 6 Y 3 N - - WNK4 Ala80Asp A80D not reviewed Insufficiently evaluated not reviewed unknown Array rs61754326 227 10648 0.0213186 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.022 Y - 5 Y 1 N - - WNK4 Pro555Arg P555R not reviewed Insufficiently evaluated not reviewed unknown Array rs57737815 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.971 Y - 5 Y 3 N - - WNK4 Ala601Ser A601S not reviewed Insufficiently evaluated not reviewed unknown Array rs55781437 790 10620 0.0743879 13 0 15 0 0 - - - - - - - - - - - - Y - - - 0.242 Y - -1 - 1 N - - WNK4 Arg677Trp R677W not reviewed Insufficiently evaluated not reviewed unknown Array rs9896991 114 10758 0.0105968 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 7 Y 3 N - - WNK4 Thr790Asn T790N not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 0 0 0 - - - - - - - - - - - - Y - - - 0.693 Y - 1 - 2 N - - WNK4 Thr891Met T891M not reviewed Insufficiently evaluated not reviewed unknown Array rs56081375 132 10758 0.0122699 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - WNK4 Pro961Ser P961S not reviewed Insufficiently evaluated not reviewed unknown Array rs2290041 841 10758 0.0781744 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - WNT1 Leu328Phe L328F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 2 - 3 - - WNT10A Arg104Leu R104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - WNT10B Pro301Ser P301S not reviewed Insufficiently evaluated not reviewed unknown Array 124 10756 0.0115284 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 3 - 2 - 7 - - WNT10B Gln74Glu Q74E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - WNT16 Gly72Arg G72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WNT16 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array rs2908004 6294 10758 0.585053 41 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WNT16 Thr253Ile T253I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WNT16 Thr263Ile T263I not reviewed Insufficiently evaluated not reviewed unknown Array rs2707466 6241 10758 0.580126 40 0 65 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WNT2 Asn353Asp N353D not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WNT2 Ser214Stop S214X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WNT8A Leu170Met L170M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - WNT8B Cys11Ser C11S not reviewed Insufficiently evaluated not reviewed unknown Array rs3793771 2380 10758 0.221231 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - WNT9B Arg94Gln R94Q not reviewed Insufficiently evaluated not reviewed unknown Array 50 10750 0.00465116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 3 - 1 - - WNT9B Met106Thr M106T not reviewed Insufficiently evaluated not reviewed unknown Array rs4968281 8441 10688 0.789764 44 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WNT9B Ser174Arg S174R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - WRAP53 Arg68Gly R68G not reviewed Insufficiently evaluated not reviewed unknown Array rs2287499 3567 10758 0.331567 29 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WRAP53 Ala522Gly A522G not reviewed Insufficiently evaluated not reviewed unknown Array rs7640 4259 10758 0.395891 26 0 41 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WRAP53 Asp524Val D524V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WRN Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230009 855 10758 0.0794757 14 0 14 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 - 10 - - WRN Met387Ile M387I not reviewed Insufficiently evaluated not reviewed unknown Array rs1800391 619 10758 0.0575386 6 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 - 4 - - WRN Leu628Val L628V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 3 - 1 - - WRN Leu1074Phe L1074F not reviewed Insufficiently evaluated not reviewed unknown Array rs1801195 5017 10758 0.466351 42 0 58 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 - 10 - - WRN Ser1079Leu S1079L not reviewed Insufficiently evaluated not reviewed unknown Array rs3087414 154 10704 0.0143871 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 3 - 9 - - WRN Cys1367Arg C1367R not reviewed Insufficiently evaluated not reviewed unknown Array rs1346044 2467 10758 0.229318 17 0 19 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 - 10 - - WRNIP1 Arg253Cys R253C not reviewed Insufficiently evaluated not reviewed unknown Array 28 10748 0.00260514 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - WRNIP1 His288Arg H288R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.397 - - 1 - 1 N - - WSB1 Leu16Ser L16S not reviewed Insufficiently evaluated not reviewed unknown Array rs9303634 5272 10758 0.490054 43 0 55 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WSCD1 Asp152Ala D152A not reviewed Insufficiently evaluated not reviewed unknown Array rs60209570 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.481 - - 5 Y 1 N - - WSCD1 Val408Ile V408I not reviewed Insufficiently evaluated not reviewed unknown Array rs73347081 125 10758 0.0116193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.736 - - -4 - 1 N - - WSCD2 Thr266Ile T266I not reviewed Insufficiently evaluated not reviewed unknown Array rs3764002 1918 10086 0.190165 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.939 - - 3 - 1 N - - WWC1 Arg250Cys R250C not reviewed Insufficiently evaluated not reviewed unknown Array rs17551608 1283 10758 0.11926 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.159 - - 8 Y 0 N - - WWC1 Lys695Arg K695R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - -3 - 0 N - - WWC1 Met734Ile M734I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - WWC1 Ser735Ala S735A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - WWC1 Val861Glu V861E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WWC1 Glu862Val E862V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - WWC2 Ala773Ser A773S not reviewed Insufficiently evaluated not reviewed unknown Array rs11941467 924 10758 0.0858896 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - WWC2 Val816Phe V816F not reviewed Insufficiently evaluated not reviewed unknown Array rs11734376 1194 10758 0.110987 11 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WWC2 Asp904His D904H not reviewed Insufficiently evaluated not reviewed unknown Array rs3814422 2831 10750 0.263349 33 0 39 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - WWC3 Tyr593Cys Y593C not reviewed Insufficiently evaluated not reviewed unknown Array rs36076296 370 8761 0.0422326 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.206 - - 6 Y 1 N - - WWC3 Pro831Leu P831L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 2 - 1 - - WWC3 Leu844Val L844V not reviewed Insufficiently evaluated not reviewed unknown Array rs57343561 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WWC3 Leu1087Pro L1087P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - WWOX Thr84Ser T84S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - -2 - 1 N - - WWOX Lys173Asn K173N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WWOX Ala179Thr A179T not reviewed Insufficiently evaluated not reviewed unknown Array rs12918952 4526 9872 0.458468 23 0 29 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - WWOX Asp183Asn D183N not reviewed Insufficiently evaluated not reviewed unknown Array 220 9906 0.0222088 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - WWOX Val202Gly V202G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WWOX Leu216Val L216V not reviewed Insufficiently evaluated not reviewed unknown Array rs7201683 381 9898 0.0384926 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - WWOX Pro252Ala P252A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10124 0.000592651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.553 - - 2 - 1 N - - WWOX Pro282Ala P282A not reviewed Insufficiently evaluated not reviewed unknown Array rs3764340 663 9946 0.06666 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 1 N - - WWOX Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array rs73572838 343 10256 0.0334438 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - WWP1 Arg465Ile R465I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - WWP2 Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 7 Y 0 N - - WWTR1 Thr285Ser T285S not reviewed Insufficiently evaluated not reviewed unknown Array rs28763914 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - WWTR1 Pro74Gln P74Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1055153 641 10586 0.0605517 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 1 N - - XAF1 Glu66Gly E66G not reviewed Insufficiently evaluated not reviewed unknown Array 626 10758 0.0581893 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - XAF1 Glu85Gly E85G not reviewed Insufficiently evaluated not reviewed unknown Array rs34195599 12 128 0.09375 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.967 - - 6 Y 1 N - - XAF1 Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XAF1 Arg132His R132H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - XAF1 Glu169Lys E169K not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XAF1 Glu188Lys E188K not reviewed Insufficiently evaluated not reviewed unknown Array rs34625877 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XBP1 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array rs5762809 491 6750 0.0727407 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - XCL2 Arg29Lys R29K not reviewed Insufficiently evaluated not reviewed unknown Array rs4501820 202 10536 0.0191724 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 6 - - XCL2 His28Asp H28D not reviewed Insufficiently evaluated not reviewed unknown Array rs4301615 271 10584 0.0256047 26 0 34 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 6 - - XDH Lys1292Arg K1292R not reviewed Insufficiently evaluated not reviewed unknown Array rs73922346 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.264 Y - -3 - 2 N - - XDH Ile703Val I703V not reviewed Insufficiently evaluated not reviewed unknown Array rs17011368 691 10758 0.0642313 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.336 Y - -4 - 2 - 1 - - XDH Pro555Ser P555S not reviewed Insufficiently evaluated not reviewed unknown Array rs45577338 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 3 - 1 N - - XDH Gly172Arg G172R not reviewed Insufficiently evaluated not reviewed unknown Array rs45523133 248 10758 0.0230526 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 6 Y 2 - 6 - - XDH Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array rs45447191 44 10758 0.00408998 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 2 - 1 - - XG Asp60Asn D60N not reviewed Insufficiently evaluated not reviewed unknown Array rs5939319 910 8760 0.103881 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.887 - - -1 - 1 N - - XG Leu131Pro L131P not reviewed Insufficiently evaluated not reviewed unknown Array rs3749988 2394 2481 0.964934 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - XIAP Gln423Pro Q423P not reviewed Insufficiently evaluated not reviewed unknown Array rs5956583 3509 8761 0.400525 27 0 45 0 0 1 Y - - - - - - - - - - Y - - - 0.053 Y Y 4 Y 3 - 10 - - XIRP1 Val1729Leu V1729L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736128 954 10758 0.0886782 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - XIRP1 Gln1707His Q1707H not reviewed Insufficiently evaluated not reviewed unknown Array rs34053674 226 10758 0.0210076 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - XIRP1 Asp1665Gly D1665G not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XIRP1 Ala1608Val A1608V not reviewed Insufficiently evaluated not reviewed unknown Array rs34810344 1524 10758 0.141662 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - XIRP1 Gly1604Arg G1604R not reviewed Insufficiently evaluated not reviewed unknown Array rs3732383 1756 10758 0.163227 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - XIRP1 Val1501Met V1501M not reviewed Insufficiently evaluated not reviewed unknown Array rs58805228 857 10504 0.081588 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.212 - - 0 - 0 N - - XIRP1 Gly1443Ser G1443S not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XIRP1 Pro1316Leu P1316L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - XIRP1 Ala1061Val A1061V not reviewed Insufficiently evaluated not reviewed unknown Array rs35795536 233 10758 0.0216583 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 1 N - - XIRP1 His965Pro H965P not reviewed Insufficiently evaluated not reviewed unknown Array rs11711871 1440 10758 0.133854 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - XIRP1 Ser808Leu S808L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736154 273 10758 0.0253765 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - XIRP1 Arg776Trp R776W not reviewed Insufficiently evaluated not reviewed unknown Array rs9823779 234 10758 0.0217513 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - XIRP1 Gln754Pro Q754P not reviewed Insufficiently evaluated not reviewed unknown Array 336 10758 0.0312326 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - XIRP1 Ala722Val A722V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736153 152 10758 0.014129 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XIRP1 Arg695Cys R695C not reviewed Insufficiently evaluated not reviewed unknown Array rs60540208 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 1 - - XIRP1 Gln346Arg Q346R not reviewed Insufficiently evaluated not reviewed unknown Array rs6805248 10703 10758 0.994888 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XIRP1 Arg66His R66H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - XIRP2 Ile140Thr I140T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Gln301Leu Q301L not reviewed Insufficiently evaluated not reviewed unknown Array 129 9692 0.0133099 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - XIRP2 Thr351Ile T351I not reviewed Insufficiently evaluated not reviewed unknown Array 19 9494 0.00200126 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Asn530Lys N530K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XIRP2 Ile608Val I608V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - XIRP2 Pro625Ala P625A not reviewed Insufficiently evaluated not reviewed unknown Array rs16853305 1791 9902 0.180873 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - XIRP2 Tyr632His Y632H not reviewed Insufficiently evaluated not reviewed unknown Array rs16853306 1782 9856 0.180804 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - XIRP2 Asn955Thr N955T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XIRP2 Val1001Ile V1001I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9646 0.000103669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XIRP2 Ile1572Thr I1572T not reviewed Insufficiently evaluated not reviewed unknown Array rs7588159 116 9536 0.0121644 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - XIRP2 Ala1603Asp A1603D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - XIRP2 Leu1624Phe L1624F not reviewed Insufficiently evaluated not reviewed unknown Array rs72884678 389 9478 0.0410424 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP2 Ile1663Thr I1663T not reviewed Insufficiently evaluated not reviewed unknown Array rs7591107 114 9586 0.0118923 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - XIRP2 Arg1801His R1801H not reviewed Insufficiently evaluated not reviewed unknown Array rs16853309 1601 9860 0.162373 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - XIRP2 Asn2008Ser N2008S not reviewed Insufficiently evaluated not reviewed unknown Array rs7607246 1402 9610 0.14589 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XIRP2 Asn2205Thr N2205T not reviewed Insufficiently evaluated not reviewed unknown Array rs73029762 76 9490 0.00800843 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XIRP2 Arg2242Gln R2242Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61750760 1563 9552 0.163631 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XIRP2 Pro2296Ser P2296S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Met2362Ile M2362I not reviewed Insufficiently evaluated not reviewed unknown Array rs59889092 1418 9962 0.142341 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.949 - - -1 - 1 N - - XIRP2 His2378Asn H2378N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP2 Leu2379Ile L2379I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - XIRP2 Ser2728Asn S2728N not reviewed Insufficiently evaluated not reviewed unknown Array rs16853328 1390 9562 0.145367 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XIRP2 Val2782Ile V2782I not reviewed Insufficiently evaluated not reviewed unknown Array rs16853330 1696 9672 0.175352 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - XIRP2 Gly2903Asp G2903D not reviewed Insufficiently evaluated not reviewed unknown Array rs3749002 74 9526 0.00776821 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XIRP2 Lys3045Glu K3045E not reviewed Insufficiently evaluated not reviewed unknown Array 7 9522 0.000735139 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP2 Ala3085Thr A3085T not reviewed Insufficiently evaluated not reviewed unknown Array rs16853331 1592 9814 0.162217 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - XIRP2 Ile3197Val I3197V not reviewed Insufficiently evaluated not reviewed unknown Array rs3749004 1602 9932 0.161297 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - XIRP2 Thr504Ile T504I not reviewed Insufficiently evaluated not reviewed unknown Array rs62197395 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.648 - - 3 - 1 N - - XIRP2 Asn637Lys N637K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XIRP2 Arg757Gly R757G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XIRP2 Val885Gly V885G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - XIRP2 Glu905Gln E905Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - XIRP2 Arg914Thr R914T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XK Tyr370Asp Y370D not reviewed Insufficiently evaluated not reviewed unknown Array 13 8759 0.00148419 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 7 Y 3 N - - XKR3 His442Asn H442N not reviewed Insufficiently evaluated not reviewed unknown Array rs5748622 112 128 0.875 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XKR3 Ser264Asn S264N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.691 - - 0 - 1 N - - XKR3 Phe255Leu F255L not reviewed Insufficiently evaluated not reviewed unknown Array rs5748623 933 4720 0.197669 54 0 98 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 1 N - - XKR3 Pro232Leu P232L not reviewed Insufficiently evaluated not reviewed unknown Array rs9605146 50 128 0.390625 37 0 47 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - XKR3 Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array rs5748648 960 9758 0.0983808 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - XKR4 Cys248Phe C248F not reviewed Insufficiently evaluated not reviewed unknown Array rs73596944 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - XKR5 Met69Val M69V not reviewed Insufficiently evaluated not reviewed unknown Array rs2741098 6513 10342 0.629762 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XKR7 Ala397Val A397V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750849 1033 10758 0.0960216 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - XKRX His352Tyr H352Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - XPA Met256Val M256V not reviewed Insufficiently evaluated not reviewed unknown Array rs57519506 93 10756 0.00864634 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.124 Y Y 0 - 2 N - - XPC Gln903Lys Q903K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 1 0 1 1 1 3 Y - - - - - - - - - - Y - - Y - Y Y -2 - 4 N - - XPC Gln940Lys Q940K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - XPC Leu591Gln L591Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - XPC Leu628Gln L628Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - XPC Ser542Tyr S542Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - XPC Ser579Tyr S579Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - XPC Ile436Leu I436L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - XPC Ile473Leu I473L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - XPC Leu16Val L16V benign Low clinical importance, Uncertain benign unknown Array rs1870134 46 9860 0.00466531 3 0 3 1 1 1 Y - - 2 Y - - - - - - Y - - - - Y Y 0 - 4 - 5 0 0 Reported as a nonpathogenic polymorphism. XPNPEP1 Gln15Lys Q15K not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - XPNPEP3 Pro103Thr P103T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 4 Y 0 N - - XPNPEP3 Arg415Gln R415Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.734 - - 0 - 1 N - - XPO4 Thr451Ala T451A not reviewed Insufficiently evaluated not reviewed unknown Array rs9552285 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 2 - - XPO4 Asn149Ser N149S not reviewed Insufficiently evaluated not reviewed unknown Array 195 9474 0.0205826 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 1 - - XPO5 Ser241Asn S241N not reviewed Insufficiently evaluated not reviewed unknown Array rs34324334 522 9824 0.0531352 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - XPOT Pro925Leu P925L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.413 - - 7 Y 1 N - - XPOT Ala946Ser A946S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - XRCC1 Asn576Thr N576T not reviewed Insufficiently evaluated not reviewed unknown Array rs2307177 134 10758 0.0124558 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XRCC1 Asn576Tyr N576Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2682557 10757 10758 0.999907 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - XRCC1 Gln399Arg Q399R not reviewed Insufficiently evaluated not reviewed unknown Array rs25487 7667 10758 0.712679 53 0 88 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - XRCC1 Arg280His R280H not reviewed Insufficiently evaluated not reviewed unknown Array rs25489 463 10744 0.0430938 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XRCC1 Arg194Trp R194W not reviewed Insufficiently evaluated not reviewed unknown Array rs1799782 667 10758 0.0620004 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - XRCC3 Thr241Met T241M not reviewed Insufficiently evaluated not reviewed unknown Array rs861539 3458 10752 0.321615 26 0 33 4 4 2 Y - - - - - - - - - - - Y - - 0.188 - - 2 - 2 N - - XRCC4 Ser12Cys S12C not reviewed Insufficiently evaluated not reviewed unknown Array rs28383138 89 10752 0.00827753 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - XRCC4 Ala247Ser A247S not reviewed Insufficiently evaluated not reviewed unknown Array rs3734091 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - XRCC5 Lys7Glu K7E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 1 - 2 - - XRCC5 Lys7Thr K7T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.279 - - 3 - 1 N - - XRCC5 Asp180Glu D180E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - XRCC6 Glu145Val E145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - XRCC6BP1 Ser48Cys S48C not reviewed Insufficiently evaluated not reviewed unknown Array rs3751325 2469 9794 0.252093 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - XRN1 Asn1278Ser N1278S not reviewed Insufficiently evaluated not reviewed unknown Array rs72990430 25 10738 0.00232818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRN1 Asp1137Asn D1137N not reviewed Insufficiently evaluated not reviewed unknown Array rs73238159 1113 10756 0.103477 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 0 N - - XRN1 Ser674Gly S674G not reviewed Insufficiently evaluated not reviewed unknown Array rs35214510 137 10754 0.0127394 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.481 - - 2 - 1 N - - XRN1 Pro319Ser P319S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744316 233 10754 0.0216664 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - XRN1 His299Tyr H299Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35351308 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - -1 - 1 N - - XRN2 Glu23Lys E23K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 1 - - XRN2 Ala529Thr A529T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - XRN2 Ser832Gly S832G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XRRA1 Thr473Arg T473R not reviewed Insufficiently evaluated not reviewed unknown Array rs4944960 2316 10232 0.226349 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 0 N - - XRRA1 Thr154Ala T154A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746073 121 9616 0.0125832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - 1 - 0 N - - XYLB Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XYLB Asp85Glu D85E not reviewed Insufficiently evaluated not reviewed unknown Array rs17118 2999 10758 0.278769 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - XYLT1 Phe941Tyr F941Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XYLT1 Arg892Gln R892Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35309694 1123 10758 0.104387 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - XYLT1 Val839Ile V839I not reviewed Insufficiently evaluated not reviewed unknown Array rs7200466 732 10758 0.0680424 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - XYLT1 Thr665Met T665M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.346 - - 2 - 1 N - - XYLT1 Pro385Leu P385L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 3 - 1 - - XYLT1 Leu192His L192H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XYLT2 Asp56Asn D56N not reviewed Insufficiently evaluated not reviewed unknown Array 102 10728 0.00950783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - XYLT2 Arg305Thr R305T not reviewed Insufficiently evaluated not reviewed unknown Array rs12451299 1847 10758 0.171686 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - XYLT2 Gln615His Q615H not reviewed Insufficiently evaluated not reviewed unknown Array rs60712738 237 10758 0.0220301 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 1 - 1 - - XYLT2 Thr801Arg T801R not reviewed Insufficiently evaluated not reviewed unknown Array rs6504649 3705 10756 0.344459 24 0 30 0 0 - Y - - - - - - - - - - - Y - - - - - 3 - 2 N - - YAP1 Gln294Stop Q294X not reviewed Insufficiently evaluated not reviewed unknown Array rs73583921 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - YARS2 Gly191Val G191V not reviewed Insufficiently evaluated not reviewed unknown Array rs11539445 1589 10758 0.147704 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.12 - - 8 Y 0 N - - YBX2 Ser63Pro S63P not reviewed Insufficiently evaluated not reviewed unknown Array 414 1734 0.238754 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 1 - 6 - - YBX2 Gly9Val G9V not reviewed Insufficiently evaluated not reviewed unknown Array 2944 3310 0.889426 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - YDJC Ala263Thr A263T not reviewed Insufficiently evaluated not reviewed unknown Array rs2298428 1482 10688 0.13866 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - YDJC Ser196Phe S196F not reviewed Insufficiently evaluated not reviewed unknown Array rs58851250 163 6930 0.0235209 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 5 Y 1 - 1 - - YEATS2 Ile184Val I184V not reviewed Insufficiently evaluated not reviewed unknown Array rs16858033 371 9524 0.0389542 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - YEATS2 Val530Ile V530I not reviewed Insufficiently evaluated not reviewed unknown Array rs262993 3734 9532 0.391733 35 0 46 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - YEATS2 Val632Ile V632I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10018 0.00019964 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - YEATS2 Ala1015Thr A1015T not reviewed Insufficiently evaluated not reviewed unknown Array 54 10272 0.00525701 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - YEATS4 Glu169Stop E169X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - YIF1A Pro37Leu P37L not reviewed Insufficiently evaluated not reviewed unknown Array rs11544832 330 10758 0.0306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - YIF1B Pro25Ser P25S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - YIF1B Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - YIF1B Pro41Ser P41S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - YIF1B Pro53Ser P53S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - YIF1B Pro56Ser P56S not reviewed Insufficiently evaluated not reviewed unknown Array rs11556992 399 10738 0.0371578 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.141 - - 3 - 0 N - - YIPF1 Thr90Ala T90A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - YIPF3 Lys102Glu K102E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.795 - - 0 - 1 N - - YIPF4 Phe124Leu F124L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - YIPF7 Ala54Thr A54T not reviewed Insufficiently evaluated not reviewed unknown Array rs2348353 691 9476 0.0729211 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - YJEFN3 Gly198Ser G198S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - YJEFN3 Ala213Thr A213T not reviewed Insufficiently evaluated not reviewed unknown Array rs58031491 20 9618 0.00207943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 1 - 3 - - YLPM1 Pro254Leu P254L not reviewed Insufficiently evaluated not reviewed unknown Array rs45599947 545 9684 0.0562784 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 1 N - - YLPM1 Pro636Ala P636A not reviewed Insufficiently evaluated not reviewed unknown Array rs45617140 710 10094 0.0703388 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - YME1L1 Asn67Ser N67S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YRDC Gly247Arg G247R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.685 - - 6 Y 2 - 1 - - YRDC Leu122Val L122V not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - YSK4 Glu812Gly E812G not reviewed Insufficiently evaluated not reviewed unknown Array rs3905317 92 10758 0.00855177 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - YSK4 Glu676Gln E676Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1112542 553 10758 0.0514036 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 1 N - - YSK4 Thr438Ile T438I not reviewed Insufficiently evaluated not reviewed unknown Array rs16831235 1389 10758 0.129113 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 1 N - - YSK4 Cys351Gly C351G not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - YTHDC1 His183Arg H183R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813832 187 10758 0.0173824 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - YTHDC2 Thr565Ser T565S not reviewed Insufficiently evaluated not reviewed unknown Array rs72805422 3010 10500 0.286667 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - YTHDC2 Asp651His D651H not reviewed Insufficiently evaluated not reviewed unknown Array rs75714066 566 10756 0.0526218 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - YTHDC2 Ser652Asn S652N not reviewed Insufficiently evaluated not reviewed unknown Array rs10071816 3403 10756 0.316382 37 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - YTHDC2 His654Arg H654R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - YTHDC2 Ile1027Met I1027M not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - YTHDC2 Leu1253Val L1253V not reviewed Insufficiently evaluated not reviewed unknown Array rs55822801 377 10756 0.0350502 7 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YTHDC2 Leu1409Gln L1409Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1132528 6895 10754 0.641157 47 0 78 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - YTHDF1 His375Tyr H375Y not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - -1 - 3 - 1 - - YTHDF2 Val221Met V221M not reviewed Insufficiently evaluated not reviewed unknown Array 55 9938 0.00553431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - YY1AP1 Glu740Gln E740Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.72 - - -2 - 1 N - - YY1AP1 Glu786Gln E786Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7539 258 10758 0.0239822 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - YY1AP1 Asp242Asn D242N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - YY1AP1 Asp308Asn D308N not reviewed Insufficiently evaluated not reviewed unknown Array rs41264945 391 10758 0.036345 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -1 - 1 N - - YY1AP1 Gly35Glu G35E not reviewed Insufficiently evaluated not reviewed unknown Array 135 10754 0.0125535 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZACN Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array rs2257020 6627 10758 0.616007 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZACN Gln281Stop Q281X not reviewed Insufficiently evaluated not reviewed unknown Array 1625 10756 0.151078 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZAK Ser531Leu S531L not reviewed Insufficiently evaluated not reviewed unknown Array rs3769148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZAK Tyr773His Y773H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZAK Lys784Thr K784T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Leu16Phe L16F not reviewed Insufficiently evaluated not reviewed unknown Array rs12673246 113 9098 0.0124203 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - ZAN Gly113Ala G113A not reviewed Insufficiently evaluated not reviewed unknown Array rs34828430 220 9414 0.0233694 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - ZAN Gly412Ser G412S not reviewed Insufficiently evaluated not reviewed unknown Array rs17162408 106 9850 0.0107614 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - ZAN Thr761Ile T761I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Ile889Thr I889T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9648 0.000310945 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Leu1012Arg L1012R not reviewed Insufficiently evaluated not reviewed unknown Array rs6942733 1953 9848 0.198314 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZAN Ala1375Thr A1375T not reviewed Insufficiently evaluated not reviewed unknown Array rs2293767 2940 10558 0.278462 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZAN Ile1639Thr I1639T not reviewed Insufficiently evaluated not reviewed unknown Array rs73711175 103 10310 0.0099903 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Gly1674Cys G1674C not reviewed Insufficiently evaluated not reviewed unknown Array rs10953303 1996 10336 0.193111 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZAN Leu1698Pro L1698P not reviewed Insufficiently evaluated not reviewed unknown Array rs10247980 3577 9632 0.371366 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZAN Cys1742Arg C1742R not reviewed Insufficiently evaluated not reviewed unknown Array rs17147735 373 9804 0.0380457 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZAN Ala1873Glu A1873E not reviewed Insufficiently evaluated not reviewed unknown Array rs41312342 5912 9870 0.598987 45 0 63 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZAN Pro1878Ser P1878S not reviewed Insufficiently evaluated not reviewed unknown Array rs314298 5859 9784 0.598835 45 0 63 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZAN Trp1883Stop W1883X not reviewed Insufficiently evaluated not reviewed unknown Array rs2293766 146 10370 0.0140791 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZAN Cys1903Tyr C1903Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12673041 737 10322 0.0714009 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 3 - - ZAN Arg1922Cys R1922C not reviewed Insufficiently evaluated not reviewed unknown Array rs314299 3882 10058 0.385961 20 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZAN Arg1922His R1922H not reviewed Insufficiently evaluated not reviewed unknown Array rs78193191 3156 10046 0.314155 23 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZAN Gly1924Arg G1924R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ZAN Ser1969Cys S1969C not reviewed Insufficiently evaluated not reviewed unknown Array rs542137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Ala2035Pro A2035P not reviewed Insufficiently evaluated not reviewed unknown Array rs539445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZAN Met2073Val M2073V not reviewed Insufficiently evaluated not reviewed unknown Array rs314300 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZAN Trp2111Arg W2111R not reviewed Insufficiently evaluated not reviewed unknown Array rs531503 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Ala2205Thr A2205T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZAN Ile2322Thr I2322T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Met2334Leu M2334L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZAN Ala2344Val A2344V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZAN Cys2349Ser C2349S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Ala2670Pro A2670P not reviewed Insufficiently evaluated not reviewed unknown Array rs314344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZAN Ala2761Pro A2761P not reviewed Insufficiently evaluated not reviewed unknown Array rs314344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZAP70 Ala218Val A218V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.079 Y Y 2 - 2 N - - ZAR1 Gln42His Q42H not reviewed Insufficiently evaluated not reviewed unknown Array rs10008444 7431 7504 0.990272 21 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZAR1 Gln154Leu Q154L not reviewed Insufficiently evaluated not reviewed unknown Array 2417 7676 0.314878 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 1 N - - ZAR1 Ser310Asn S310N not reviewed Insufficiently evaluated not reviewed unknown Array rs79858408 2030 6472 0.313659 19 0 25 0 0 - - - - - - - - - - - - - - - - 0.147 - - 0 - 0 N - - ZBBX Ala636Gly A636G not reviewed Insufficiently evaluated not reviewed unknown Array rs12638625 2779 9480 0.293143 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBBX Glu555Lys E555K not reviewed Insufficiently evaluated not reviewed unknown Array rs35864545 878 9448 0.0929297 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - ZBBX Ile511Thr I511T not reviewed Insufficiently evaluated not reviewed unknown Array rs35190925 878 9424 0.0931664 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - ZBBX Ala473Gly A473G not reviewed Insufficiently evaluated not reviewed unknown Array rs13096767 3835 9422 0.407026 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBBX Trp269Arg W269R not reviewed Insufficiently evaluated not reviewed unknown Array 24 9702 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZBBX Leu223Phe L223F not reviewed Insufficiently evaluated not reviewed unknown Array 22 9514 0.00231238 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBBX Lys178Arg K178R not reviewed Insufficiently evaluated not reviewed unknown Array rs11923054 3118 9376 0.332551 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZBBX Lys160Asn K160N not reviewed Insufficiently evaluated not reviewed unknown Array rs4619784 3146 9470 0.332207 27 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBED2 Glu7Lys E7K not reviewed Insufficiently evaluated not reviewed unknown Array rs34321066 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - ZBED3 Pro213Thr P213T not reviewed Insufficiently evaluated not reviewed unknown Array 101 10540 0.00958254 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ZBED4 Asp14Glu D14E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBED4 Val168Gly V168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZBED4 Ile420Val I420V not reviewed Insufficiently evaluated not reviewed unknown Array rs910799 6727 10758 0.625302 41 0 65 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZBED4 Val1162Leu V1162L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBED5 Ala193Asp A193D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 5 Y 2 N - - ZBED5 Gln47Arg Q47R not reviewed Insufficiently evaluated not reviewed unknown Array rs2232919 223 3230 0.0690402 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - ZBED5 Ala17Val A17V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232918 217 3232 0.0671411 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 4 - - ZBP1 Gly281Val G281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 1 N - - ZBP1 Gly355Val G355V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZBP1 Gly356Val G356V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 1 N - - ZBP1 Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBP1 Ala331Val A331V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBP1 Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array rs41275648 561 10758 0.0521472 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - ZBP1 Gln183Arg Q183R not reviewed Insufficiently evaluated not reviewed unknown Array rs2865394 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBP1 Gln257Arg Q257R not reviewed Insufficiently evaluated not reviewed unknown Array rs2865394 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBP1 Gln258Arg Q258R not reviewed Insufficiently evaluated not reviewed unknown Array rs2865394 10688 10758 0.993493 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZBP1 Asp154His D154H not reviewed Insufficiently evaluated not reviewed unknown Array rs16981187 596 10758 0.0554006 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.734 - - 3 - 0 N - - ZBP1 Asp79His D79H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZBP1 Glu13Lys E13K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - Y - - - - 0 - 2 N - - ZBP1 Glu88Lys E88K not reviewed Insufficiently evaluated not reviewed unknown Array rs2073145 5991 10758 0.556888 33 0 46 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - ZBP1 Lys53Arg K53R not reviewed Insufficiently evaluated not reviewed unknown Array rs35895307 226 10758 0.0210076 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ZBTB10 Ala638Glu A638E not reviewed Insufficiently evaluated not reviewed unknown Array 253 9952 0.025422 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZBTB11 Ala583Thr A583T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB11 Ile402Met I402M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZBTB11 Thr350Asn T350N not reviewed Insufficiently evaluated not reviewed unknown Array rs33957144 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB22 Thr310Ala T310A not reviewed Insufficiently evaluated not reviewed unknown Array rs3130100 5912 10758 0.549545 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBTB22 Gly250Ala G250A not reviewed Insufficiently evaluated not reviewed unknown Array rs35663442 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ZBTB22 Pro183Ala P183A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBTB24 Ala518Thr A518T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232448 970 10758 0.0901655 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBTB25 Ile89Thr I89T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742301 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ZBTB3 Ile574Met I574M not reviewed Insufficiently evaluated not reviewed unknown Array rs544641 927 10758 0.0861684 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZBTB32 Arg174Ser R174S not reviewed Insufficiently evaluated not reviewed unknown Array rs2227278 1010 10758 0.0938836 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - ZBTB32 Ser248Leu S248L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 1 - - ZBTB33 Ser188Tyr S188Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - ZBTB33 Ile226Val I226V not reviewed Insufficiently evaluated not reviewed unknown Array 95 8761 0.0108435 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZBTB33 Pro625Thr P625T not reviewed Insufficiently evaluated not reviewed unknown Array 108 8757 0.012333 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.94 - - 4 Y 2 N - - ZBTB34 Gln322Lys Q322K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBTB38 Pro300Ala P300A not reviewed Insufficiently evaluated not reviewed unknown Array rs62282002 633 9740 0.0649897 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.859 - - 2 - 1 N - - ZBTB38 Ser319Ala S319A not reviewed Insufficiently evaluated not reviewed unknown Array rs16851435 971 9740 0.099692 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 0 N - - ZBTB38 Ala732Asp A732D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 5 Y 0 N - - ZBTB38 Ala809Thr A809T not reviewed Insufficiently evaluated not reviewed unknown Array rs3732867 150 9624 0.015586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB38 Val962Met V962M not reviewed Insufficiently evaluated not reviewed unknown Array 69 9716 0.00710169 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB4 Asp651Glu D651E not reviewed Insufficiently evaluated not reviewed unknown Array 469 10758 0.0435955 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZBTB4 Met550Ile M550I not reviewed Insufficiently evaluated not reviewed unknown Array rs871990 1478 10742 0.137591 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZBTB4 Ala539Val A539V not reviewed Insufficiently evaluated not reviewed unknown Array rs35231078 123 10722 0.0114717 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 2 - 3 - - ZBTB40 Met267Ile M267I not reviewed Insufficiently evaluated not reviewed unknown Array rs36115661 325 10758 0.0302101 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 1 - 2 - - ZBTB40 Tyr595Cys Y595C not reviewed Insufficiently evaluated not reviewed unknown Array rs209729 8419 10758 0.78258 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZBTB40 Val997Met V997M not reviewed Insufficiently evaluated not reviewed unknown Array rs209720 10716 10758 0.996096 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZBTB41 Asp327Tyr D327Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10494751 940 10758 0.0873768 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.648 - - 7 Y 0 N - - ZBTB42 Glu232Lys E232K not reviewed Insufficiently evaluated not reviewed unknown Array rs4983387 2701 3226 0.83726 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 1 N - - ZBTB45 Pro354Ser P354S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - ZBTB46 Thr11Ala T11A not reviewed Insufficiently evaluated not reviewed unknown Array rs2281929 1747 10754 0.162451 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZBTB47 Ala331Glu A331E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - ZBTB48 Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10744 0.00567759 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ZBTB5 Asp300Gly D300G not reviewed Insufficiently evaluated not reviewed unknown Array rs17502738 1551 10758 0.144172 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - ZBTB7A Gly560Val G560V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZBTB7A Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array rs3745985 71 10026 0.00708159 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ZBTB7A Ala133Val A133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - ZBTB7A Ala133Pro A133P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - 2 - 1 N - - ZBTB7A Leu132Gln L132Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - ZBTB7A Ile131Val I131V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - -4 - 0 N - - ZBTB7C Pro250Ser P250S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729532 386 10758 0.0358803 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - ZBTB8A Gly418Ala G418A not reviewed Insufficiently evaluated not reviewed unknown Array rs704886 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBTB9 Ala274Gly A274G not reviewed Insufficiently evaluated not reviewed unknown Array rs9469425 757 10758 0.0703662 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 0 N - - ZC3H12D Ala307Val A307V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZC3H12D Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array rs7747948 26 118 0.220339 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.588 - - 7 Y 0 N - - ZC3H13 Glu1429Asp E1429D not reviewed Insufficiently evaluated not reviewed unknown Array rs9534264 8009 10758 0.744469 52 0 89 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - ZC3H14 Gly121Ser G121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZC3H18 His66Tyr H66Y not reviewed Insufficiently evaluated not reviewed unknown Array rs59918399 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZC3H3 Thr935Ser T935S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10464 0.000573394 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - ZC3H3 Ser880Stop S880X not reviewed Insufficiently evaluated not reviewed unknown Array rs2272754 933 10752 0.0867746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZC3H3 Ser880Thr S880T not reviewed Insufficiently evaluated not reviewed unknown Array rs2272753 911 10752 0.0847284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - ZC3H3 Pro857Ser P857S not reviewed Insufficiently evaluated not reviewed unknown Array rs36083358 377 10706 0.0352139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - ZC3H3 Arg578Cys R578C not reviewed Insufficiently evaluated not reviewed unknown Array rs71520524 265 10710 0.0247432 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZC3H3 Pro547Leu P547L not reviewed Insufficiently evaluated not reviewed unknown Array rs60913918 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - 7 Y 1 N - - ZC3H3 Thr503Lys T503K not reviewed Insufficiently evaluated not reviewed unknown Array rs11548254 122 10738 0.0113615 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - ZC3H3 Ser452Gly S452G not reviewed Insufficiently evaluated not reviewed unknown Array rs4874147 7731 10758 0.718628 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZC3H3 Ser431Pro S431P not reviewed Insufficiently evaluated not reviewed unknown Array rs72691463 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - ZC3H3 Ser399Gly S399G not reviewed Insufficiently evaluated not reviewed unknown Array rs1318196 4195 10756 0.390015 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZC3H3 Pro351Leu P351L not reviewed Insufficiently evaluated not reviewed unknown Array rs34674128 243 10748 0.0226089 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.898 - - 7 Y 3 - 2 - - ZC3H3 Ser318Leu S318L not reviewed Insufficiently evaluated not reviewed unknown Array rs80351785 244 10758 0.0226808 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZC3H3 Leu243Val L243V not reviewed Insufficiently evaluated not reviewed unknown Array rs10081594 252 10726 0.0234943 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZC3H3 Ala228Ser A228S not reviewed Insufficiently evaluated not reviewed unknown Array rs4873802 1515 10738 0.141088 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.068 - - -1 - 0 N - - ZC3H3 Arg168Trp R168W not reviewed Insufficiently evaluated not reviewed unknown Array rs3750208 1081 10738 0.100671 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.858 - - 7 Y 1 N - - ZC3H3 Glu151Asp E151D not reviewed Insufficiently evaluated not reviewed unknown Array rs3750207 4179 10744 0.388961 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZC3H3 Phe149Tyr F149Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3750206 1384 10746 0.128792 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZC3H3 Ile6Met I6M not reviewed Insufficiently evaluated not reviewed unknown Array rs2242093 1264 10750 0.117581 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZC3H4 Ala3Thr A3T not reviewed Insufficiently evaluated not reviewed unknown Array rs62135070 106 5100 0.0207843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZC3H7A His57Arg H57R not reviewed Insufficiently evaluated not reviewed unknown Array rs16958654 853 10754 0.0793193 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZC3H7A Asn3Ser N3S not reviewed Insufficiently evaluated not reviewed unknown Array rs1429077 857 10758 0.0796616 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZC3H7B Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.381 - - 1 - 1 N - - ZC3H7B Gly444Ser G444S not reviewed Insufficiently evaluated not reviewed unknown Array rs73416822 364 10758 0.0338353 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZC3H7B His684Tyr H684Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35055668 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZC3HAV1 Thr851Ile T851I not reviewed Insufficiently evaluated not reviewed unknown Array rs3735007 6225 10758 0.578639 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZC3HAV1 Gln701Glu Q701E not reviewed Insufficiently evaluated not reviewed unknown Array rs2297236 5725 10758 0.532162 45 0 64 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZC3HAV1 His565Gln H565Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2297241 1760 10758 0.163599 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZC3HAV1 Arg485Lys R485K not reviewed Insufficiently evaluated not reviewed unknown Array rs2236426 1679 10758 0.15607 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZC3HAV1L Met244Ile M244I not reviewed Insufficiently evaluated not reviewed unknown Array rs17856272 902 10758 0.0838446 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 1 N - - ZC3HAV1L Arg209Trp R209W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZC3HC1 Arg416Gln R416Q not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - ZC3HC1 Arg363His R363H not reviewed Insufficiently evaluated not reviewed unknown Array rs11556924 3018 10758 0.280535 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - ZC3HC1 Thr271Ala T271A not reviewed Insufficiently evaluated not reviewed unknown Array rs1464890 4601 10758 0.427682 32 0 42 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - ZCCHC14 Asn755Thr N755T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZCCHC14 Val693Met V693M not reviewed Insufficiently evaluated not reviewed unknown Array rs3748400 6237 10754 0.57997 16 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZCCHC14 Ile54Val I54V not reviewed Insufficiently evaluated not reviewed unknown Array rs11648852 1263 10758 0.117401 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZCCHC16 Leu27Pro L27P not reviewed Insufficiently evaluated not reviewed unknown Array rs6568050 4926 8761 0.562265 47 0 85 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZCCHC16 Asp162Tyr D162Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7474140 1457 8761 0.166305 10 0 17 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 1 N - - ZCCHC2 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZCCHC3 Gly309Ser G309S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 2 - 0 N - - ZCCHC4 Asn148Ser N148S not reviewed Insufficiently evaluated not reviewed unknown Array 81 9684 0.00836431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ZCCHC4 Gln159Lys Q159K not reviewed Insufficiently evaluated not reviewed unknown Array 83 9742 0.00851981 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ZCCHC4 His241Arg H241R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746661 136 9474 0.0143551 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.204 - - 1 - 1 N - - ZCCHC4 Pro382Leu P382L not reviewed Insufficiently evaluated not reviewed unknown Array rs3752873 181 9590 0.0188738 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZCCHC4 Leu396His L396H not reviewed Insufficiently evaluated not reviewed unknown Array rs315675 8770 9530 0.920252 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZCCHC5 Glu232Ala E232A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 3 - 2 N - - ZCCHC5 Pro117Ser P117S not reviewed Insufficiently evaluated not reviewed unknown Array rs4077512 1347 8754 0.153873 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.066 - - 3 - 0 N - - ZCCHC6 Lys937Asn K937N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZCCHC6 Lys937Glu K937E not reviewed Insufficiently evaluated not reviewed unknown Array rs58050565 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCCHC7 Glu205Stop E205X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZCCHC7 Gly405Glu G405E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZCCHC8 Val543Ile V543I not reviewed Insufficiently evaluated not reviewed unknown Array rs57096638 160 10558 0.0151544 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZCCHC9 Pro15Ala P15A not reviewed Insufficiently evaluated not reviewed unknown Array rs16878594 968 10758 0.0899796 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - ZCCHC9 Pro256Leu P256L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 3 - 1 - - ZCCHC9 Pro266Leu P266L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 1 - 1 - - ZCWPW1 Glu365Lys E365K not reviewed Insufficiently evaluated not reviewed unknown Array rs6970350 375 9814 0.0382107 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCWPW1 Thr153Ala T153A not reviewed Insufficiently evaluated not reviewed unknown Array rs6465770 444 9822 0.0452046 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - ZCWPW2 Leu202Gln L202Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1563656 4303 10754 0.40013 35 0 47 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZDBF2 Arg160Lys R160K not reviewed Insufficiently evaluated not reviewed unknown Array rs10932150 4436 9586 0.462758 39 0 51 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZDBF2 Asn1173Ser N1173S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9688 0.00010322 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ZDBF2 Arg2075Met R2075M not reviewed Insufficiently evaluated not reviewed unknown Array 66 9632 0.00685216 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - ZDHHC1 Arg124Gln R124Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34229857 212 10758 0.0197063 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - ZDHHC11 Arg372His R372H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10742 0.000837832 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - ZDHHC11 Arg341Gln R341Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1809008 2690 10746 0.250326 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 0 N - - ZDHHC11 Asn275Thr N275T not reviewed Insufficiently evaluated not reviewed unknown Array rs28449575 913 10758 0.0848671 10 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZDHHC11 Arg207Met R207M not reviewed Insufficiently evaluated not reviewed unknown Array 3754 10734 0.34973 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - ZDHHC11 Val193Ile V193I not reviewed Insufficiently evaluated not reviewed unknown Array 481 10732 0.0448192 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZDHHC11 Met1Arg M1R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - ZDHHC12 Arg224Ser R224S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - ZDHHC12 Val199Ala V199A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10708 0.00821815 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZDHHC12 Gln172Leu Q172L not reviewed Insufficiently evaluated not reviewed unknown Array rs2900268 10659 10706 0.99561 49 0 98 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ZDHHC12 Asp68Tyr D68Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZDHHC13 Lys99Arg K99R not reviewed Insufficiently evaluated not reviewed unknown Array rs2271001 5928 9562 0.619954 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZDHHC13 Tyr262Cys Y262C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ZDHHC13 Tyr392Cys Y392C not reviewed Insufficiently evaluated not reviewed unknown Array rs12798330 258 9454 0.02729 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 2 - - ZDHHC14 Ala404Thr A404T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZDHHC14 Ala419Thr A419T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10638 0.0073322 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZDHHC17 Asn383Ser N383S not reviewed Insufficiently evaluated not reviewed unknown Array rs33996476 761 9438 0.0806315 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZDHHC19 Glu303Gly E303G not reviewed Insufficiently evaluated not reviewed unknown Array rs73077068 292 10044 0.0290721 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZDHHC19 Lys227Arg K227R not reviewed Insufficiently evaluated not reviewed unknown Array 122 10218 0.0119397 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZDHHC19 Gly66Ala G66A not reviewed Insufficiently evaluated not reviewed unknown Array rs13315830 244 10048 0.0242834 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ZDHHC23 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array rs72954683 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZDHHC23 Lys247Arg K247R not reviewed Insufficiently evaluated not reviewed unknown Array rs11921691 6033 10758 0.560792 46 0 64 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZDHHC3 His220Gln H220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3087823 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - ZDHHC4 Val53Met V53M not reviewed Insufficiently evaluated not reviewed unknown Array rs11559146 3354 10758 0.311768 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZDHHC4 Trp170Cys W170C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZDHHC7 Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array rs13334011 6 128 0.046875 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZDHHC7 Val238Ile V238I not reviewed Insufficiently evaluated not reviewed unknown Array rs13334011 284 10758 0.026399 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZDHHC8 Val501Met V501M not reviewed Insufficiently evaluated not reviewed unknown Array 30 10728 0.00279642 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZDHHC8 Arg607Lys R607K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10692 0.000467639 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - -3 - 0 N - - ZDHHC8 Ala655Thr A655T not reviewed Insufficiently evaluated not reviewed unknown Array 424 10690 0.0396632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - ZEB1 Asn61Thr N61T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ZEB1 Asn78Thr N78T not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ZEB1 Lys537Arg K537R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - ZEB1 Lys553Arg K553R not reviewed Insufficiently evaluated not reviewed unknown Array rs35753967 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 1 - 3 - - ZFAND2A Ala116Ser A116S not reviewed Insufficiently evaluated not reviewed unknown Array rs80300105 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZFAND2A Pro45Leu P45L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 7 Y 0 N - - ZFAND2B Gly45Val G45V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFAT Arg823Cys R823C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFAT Thr751Asn T751N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFAT Thr763Asn T763N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ZFAT Ser458Cys S458C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFAT Ser470Cys S470C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10322 0.00203449 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 3 - 2 N - - ZFAT Ile340Val I340V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZFAT Ile352Val I352V not reviewed Insufficiently evaluated not reviewed unknown Array 63 10436 0.0060368 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.018 - - -4 - 0 N - - ZFAT Pro102Ser P102S not reviewed Insufficiently evaluated not reviewed unknown Array rs12541381 2085 10656 0.195664 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ZFAT Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFAT Gly52Arg G52R not reviewed Insufficiently evaluated not reviewed unknown Array rs17778003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZFAT Gly64Arg G64R not reviewed Insufficiently evaluated not reviewed unknown Array rs17778003 1003 9610 0.10437 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 0 N - - ZFC3H1 Leu911Ile L911I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -2 - 1 N - - ZFHX3 Gln2014His Q2014H not reviewed Insufficiently evaluated not reviewed unknown Array rs62051555 314 10758 0.0291876 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - -1 - 2 N - - ZFHX3 Pro1351Thr P1351T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.551 - - 4 Y 1 N - - ZFHX3 Ala997Ser A997S not reviewed Insufficiently evaluated not reviewed unknown Array rs2213978 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.195 - - -1 - 1 - 2 - - ZFHX3 Ser972Leu S972L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 1 - 2 - - ZFHX3 Val777Ala V777A not reviewed Insufficiently evaluated not reviewed unknown Array rs4788682 8045 9808 0.820249 19 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZFHX3 Glu460Gln E460Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2073852 88 10758 0.00817996 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - ZFHX3 Thr428Pro T428P not reviewed Insufficiently evaluated not reviewed unknown Array rs16971436 456 10744 0.0424423 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.707 - - 4 Y 1 N - - ZFHX3 Gly375Glu G375E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 2 N - - ZFHX3 Ser146Gly S146G not reviewed Insufficiently evaluated not reviewed unknown Array rs58480263 29 10758 0.00269567 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - ZFHX3 Ala113Thr A113T not reviewed Insufficiently evaluated not reviewed unknown Array rs62640010 347 10740 0.0323091 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ZFHX3 Ser72Ala S72A not reviewed Insufficiently evaluated not reviewed unknown Array rs7193297 5047 10706 0.471418 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZFHX3 Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array rs62639999 404 10756 0.0375604 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFHX4 Thr492Ile T492I not reviewed Insufficiently evaluated not reviewed unknown Array rs73690865 33 10028 0.00329079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - ZFHX4 Asp1119Val D1119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - ZFHX4 Pro1228Ser P1228S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729527 373 10182 0.0366333 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - ZFHX4 Ala1639Thr A1639T not reviewed Insufficiently evaluated not reviewed unknown Array rs28432935 467 10212 0.0457305 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFHX4 Ile2036Val I2036V not reviewed Insufficiently evaluated not reviewed unknown Array rs16919452 236 9818 0.0240375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 1 - 3 - - ZFHX4 Met2434Ile M2434I not reviewed Insufficiently evaluated not reviewed unknown Array 53 10268 0.00516167 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - -1 - 1 N - - ZFHX4 Val3033Gly V3033G not reviewed Insufficiently evaluated not reviewed unknown Array rs16939380 253 10338 0.0244728 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.889 - - 8 Y 3 - 3 - - ZFP106 Ala1285Gly A1285G not reviewed Insufficiently evaluated not reviewed unknown Array rs61731604 230 10758 0.0213794 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZFP106 Ile646Thr I646T not reviewed Insufficiently evaluated not reviewed unknown Array rs12101559 1639 10758 0.152352 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZFP106 His499Arg H499R not reviewed Insufficiently evaluated not reviewed unknown Array rs73402758 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - ZFP106 Trp103Arg W103R not reviewed Insufficiently evaluated not reviewed unknown Array rs12440118 1181 10758 0.109779 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.073 - - 7 Y 0 N - - ZFP112 Glu774Ala E774A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFP112 Glu780Ala E780A not reviewed Insufficiently evaluated not reviewed unknown Array rs2609881 2470 10758 0.229597 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZFP112 Tyr479His Y479H not reviewed Insufficiently evaluated not reviewed unknown Array rs2722722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZFP112 Tyr485His Y485H not reviewed Insufficiently evaluated not reviewed unknown Array rs2722722 6616 10758 0.614984 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZFP112 Glu440Gln E440Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2722723 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFP112 Glu446Gln E446Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2722723 6614 10758 0.614798 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZFP112 Phe153Leu F153L not reviewed Insufficiently evaluated not reviewed unknown Array rs4280359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP112 Phe159Leu F159L not reviewed Insufficiently evaluated not reviewed unknown Array rs4280359 7908 10756 0.735218 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZFP14 Lys175Arg K175R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - -3 - 2 N - - ZFP28 Ala43Gly A43G not reviewed Insufficiently evaluated not reviewed unknown Array rs7258088 2681 9930 0.26999 26 0 32 0 0 - - - - - - - - - - - - - - - - 0.095 - - 1 - 0 N - - ZFP28 Ser141Trp S141W not reviewed Insufficiently evaluated not reviewed unknown Array rs34136271 1632 10758 0.151701 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - ZFP28 Ala620Val A620V not reviewed Insufficiently evaluated not reviewed unknown Array rs10409531 4375 10758 0.406674 35 0 43 0 0 - - - - - - - - - - - - - - - - 0.148 - - 2 - 0 N - - ZFP30 Thr138Ala T138A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP30 Arg3His R3H not reviewed Insufficiently evaluated not reviewed unknown Array rs73621535 88 10758 0.00817996 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - ZFP36 Pro37Ser P37S not reviewed Insufficiently evaluated not reviewed unknown Array rs17878633 114 10748 0.0106066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - 3 - 1 - 2 - - ZFP36L2 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZFP36L2 Gly227Val G227V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.546 - - 8 Y 1 N - - ZFP36L2 Leu112Gln L112Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10742 0.00670266 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 5 Y 0 N - - ZFP37 Val7Asp V7D not reviewed Insufficiently evaluated not reviewed unknown Array rs2282076 5753 10758 0.534765 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZFP57 Asp368Val D368V not reviewed Insufficiently evaluated not reviewed unknown Array 382 6628 0.0576343 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZFP57 Asn198Ser N198S not reviewed Insufficiently evaluated not reviewed unknown Array 154 6786 0.0226938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ZFP62 Arg638Lys R638K not reviewed Insufficiently evaluated not reviewed unknown Array rs168726 2562 3234 0.792208 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZFP64 Ser397Asn S397N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP64 Ser449Asn S449N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP64 Ser451Asn S451N not reviewed Insufficiently evaluated not reviewed unknown Array rs3746414 2088 10758 0.194088 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - ZFP64 Phe268Leu F268L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ZFP64 Phe320Leu F320L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP64 Phe322Leu F322L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ZFP91 Ser207Gly S207G not reviewed Insufficiently evaluated not reviewed unknown Array rs8373 2252 10758 0.209333 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 1 N - - ZFPL1 Arg246Trp R246W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.775 - - 7 Y 1 N - - ZFPM1 Arg22Gly R22G not reviewed Insufficiently evaluated not reviewed unknown Array rs3751673 5234 10752 0.486793 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZFPM1 Gly70Ala G70A not reviewed Insufficiently evaluated not reviewed unknown Array rs34916016 101 10744 0.00940059 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFPM1 Ile230Leu I230L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10702 0.00270977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFPM1 Lys431Asn K431N not reviewed Insufficiently evaluated not reviewed unknown Array rs71395304 487 9752 0.0499385 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFPM1 Glu480Lys E480K not reviewed Insufficiently evaluated not reviewed unknown Array 3 6006 0.0004995 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFPM1 Gly563Val G563V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFPM1 Pro809Leu P809L not reviewed Insufficiently evaluated not reviewed unknown Array 214 6880 0.0311047 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - ZFPM2 Met133Val M133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFPM2 Ala403Gly A403G not reviewed Insufficiently evaluated not reviewed unknown Array rs11993776 1796 10072 0.178316 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZFPM2 Ser657Gly S657G pathogenic Insufficiently evaluated pathogenic other Array rs28374544 407 9644 0.0422024 8 0 8 1 1 1 Y 1 Y 0 Y - - 5 Y 4 Y - Y - - - - - 2 - 3 N - - This variant is associated with Tetralogy of Fallot which typically has low penetrance alleles. High frequency in HapMap and 1000 genomes (11.4% and 18.8%, respectively) seems to contradict pathogenic hypothesis. ZFPM2 Glu782Asp E782D not reviewed Insufficiently evaluated not reviewed unknown Array rs2920048 1016 9806 0.10361 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZFPM2 Ala1055Val A1055V not reviewed Insufficiently evaluated not reviewed unknown Array rs16873741 582 10014 0.0581186 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZFR Asp775Tyr D775Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - ZFR Ile520Thr I520T not reviewed Insufficiently evaluated not reviewed unknown Array rs1051489 2821 10758 0.262223 19 0 22 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ZFR Val461Ile V461I not reviewed Insufficiently evaluated not reviewed unknown Array rs4867440 10317 10758 0.959007 55 0 106 0 0 - - - - - - - - - - - - - - - - 0.059 - - -4 - 0 N - - ZFR2 Asp589Asn D589N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9802 0.000102019 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 3 - 2 - - ZFR2 Ala577Thr A577T not reviewed Insufficiently evaluated not reviewed unknown Array rs2301843 3777 10156 0.371898 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ZFR2 Arg464Leu R464L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10480 0.000286259 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - ZFR2 Pro235Leu P235L not reviewed Insufficiently evaluated not reviewed unknown Array rs2240232 2871 7764 0.369784 5 0 9 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - ZFR2 Val210Leu V210L not reviewed Insufficiently evaluated not reviewed unknown Array rs2240233 3724 9770 0.381167 33 0 45 0 0 - - - - - - - - - - - - - - - - 0.55 - - 0 - 0 N - - ZFR2 Val183Met V183M not reviewed Insufficiently evaluated not reviewed unknown Array rs2240234 1992 10480 0.190076 21 0 26 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZFR2 Ser164Leu S164L not reviewed Insufficiently evaluated not reviewed unknown Array rs2240235 4127 10520 0.3923 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - ZFR2 Ala159Thr A159T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10490 9.5328e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFYVE1 His38Asn H38N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFYVE1 His453Asn H453N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ZFYVE16 Ile192Thr I192T not reviewed Insufficiently evaluated not reviewed unknown Array rs2544600 8146 10730 0.75918 51 0 85 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZFYVE16 Ile598Thr I598T not reviewed Insufficiently evaluated not reviewed unknown Array rs259028 9299 10738 0.86599 54 0 98 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZFYVE16 Ser1055Gly S1055G not reviewed Insufficiently evaluated not reviewed unknown Array rs249038 9302 10752 0.865141 54 0 98 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZFYVE19 Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array rs34819163 313 10222 0.0306202 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - ZFYVE19 Ser376Ala S376A not reviewed Insufficiently evaluated not reviewed unknown Array rs690347 7737 10288 0.752041 53 0 94 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ZFYVE19 Arg398Cys R398C not reviewed Insufficiently evaluated not reviewed unknown Array 28 9930 0.00281974 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ZFYVE20 Met722Ile M722I not reviewed Insufficiently evaluated not reviewed unknown Array rs9830744 873 10758 0.0811489 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.24 - - -1 - 0 N - - ZFYVE20 Thr641Ala T641A not reviewed Insufficiently evaluated not reviewed unknown Array rs9851219 522 10758 0.048522 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZFYVE20 Leu591Pro L591P not reviewed Insufficiently evaluated not reviewed unknown Array rs9868848 522 10758 0.048522 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFYVE20 His37Arg H37R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZFYVE21 Lys112Arg K112R not reviewed Insufficiently evaluated not reviewed unknown Array rs71417876 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ZFYVE26 Ser1893Ile S1893I not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.838 Y - 5 Y 2 N - - ZFYVE26 Asn1891Ser N1891S not reviewed Insufficiently evaluated not reviewed unknown Array rs3742883 10139 10758 0.942461 55 0 102 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 1 - - ZFYVE26 Cys1871Tyr C1871Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746722 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ZFYVE26 Val1550Ile V1550I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - -4 - 1 N - - ZFYVE26 Cys1457Tyr C1457Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2235967 2810 10758 0.261201 16 0 17 0 0 2 Y - - - - - - - - - - Y - - - 0.005 Y - 6 Y 2 - 1 - - ZFYVE26 Ala1122Val A1122V not reviewed Insufficiently evaluated not reviewed unknown Array rs3742884 575 10758 0.0534486 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 1 - - ZFYVE26 Pro1103Leu P1103L not reviewed Insufficiently evaluated not reviewed unknown Array rs3742885 563 10744 0.0524013 10 0 10 0 0 - - - - - - - - - - - - Y - - - 0.899 Y - 7 Y 3 - 2 - - ZFYVE26 Ser1040Thr S1040T not reviewed Insufficiently evaluated not reviewed unknown Array 332 10758 0.0308608 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -2 - 1 N - - ZFYVE26 Thr951Met T951M not reviewed Insufficiently evaluated not reviewed unknown Array rs35471427 284 10758 0.026399 4 0 6 0 0 - - - - - - - - - - - - Y - - - 0.077 Y - 2 - 1 N - - ZFYVE26 Thr898Ser T898S not reviewed Insufficiently evaluated not reviewed unknown Array rs17192170 968 10758 0.0899796 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - -2 - 2 - 2 - - ZFYVE27 Glu52Lys E52K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - ZFYVE27 Gly138Val G138V not reviewed Insufficiently evaluated not reviewed unknown Array rs10882993 8184 10756 0.760878 48 0 76 0 0 2 Y - - - - - - - - - - Y - - - - Y - 8 Y 1 N - - ZFYVE28 Ser672Pro S672P not reviewed Insufficiently evaluated not reviewed unknown Array rs661301 8435 10742 0.785236 37 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZFYVE28 Ser603Asn S603N not reviewed Insufficiently evaluated not reviewed unknown Array rs17768776 1031 10754 0.0958713 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ZFYVE28 Ala530Val A530V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10716 0.00615901 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - ZFYVE28 Arg399His R399H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ZFYVE28 Pro316Ser P316S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742112 997 10754 0.0927097 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - ZFYVE9 Val27Ala V27A not reviewed Insufficiently evaluated not reviewed unknown Array rs41309181 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 1 - 1 - - ZFYVE9 Ile639Val I639V not reviewed Insufficiently evaluated not reviewed unknown Array rs11809887 64 10758 0.00594906 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZG16B Thr50Ser T50S not reviewed Insufficiently evaluated not reviewed unknown Array rs73495338 445 10118 0.043981 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.929 - - -2 - 2 N - - ZG16B Met133Val M133V not reviewed Insufficiently evaluated not reviewed unknown Array rs35533993 177 10066 0.0175839 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.475 - - 0 - 2 - 3 - - ZGPAT Ser61Arg S61R not reviewed Insufficiently evaluated not reviewed unknown Array rs1291212 10151 10756 0.943752 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZHX1 Ala321Gly A321G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 1 - 0 N - - ZHX2 Val212Met V212M not reviewed Insufficiently evaluated not reviewed unknown Array rs35760254 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZHX2 Val357Met V357M not reviewed Insufficiently evaluated not reviewed unknown Array rs9649951 342 10758 0.0317903 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZHX2 Pro715Ser P715S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZHX2 Gly779Ser G779S not reviewed Insufficiently evaluated not reviewed unknown Array rs3802264 242 10758 0.0224949 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.927 - - 2 - 2 N - - ZIC3 Thr44Ser T44S not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ZIC4 Ser333Asn S333N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - ZIC4 Ser300Trp S300W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 7 Y 1 N - - ZIM2 Arg473Lys R473K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 5 - - ZIM2 Gln408Arg Q408R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - ZIM2 Val244Leu V244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZIM2 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZIM3 Ile379Val I379V not reviewed Insufficiently evaluated not reviewed unknown Array rs4801433 4905 10758 0.45594 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.651 - - -4 - 0 N - - ZIM3 Gly205Arg G205R not reviewed Insufficiently evaluated not reviewed unknown Array rs35202951 550 10758 0.0511247 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.764 - - 6 Y 0 N - - ZIM3 Asn157Asp N157D not reviewed Insufficiently evaluated not reviewed unknown Array rs7252632 7196 10758 0.668898 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZIM3 Leu69Met L69M not reviewed Insufficiently evaluated not reviewed unknown Array rs4801200 4887 10758 0.454267 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.05 - - -3 - 0 N - - ZIM3 Glu28Lys E28K not reviewed Insufficiently evaluated not reviewed unknown Array rs2370134 1457 10758 0.135434 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.275 - - 0 - 0 N - - ZIM3 Arg7Lys R7K not reviewed Insufficiently evaluated not reviewed unknown Array rs10407445 1379 10758 0.128184 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.12 - - -3 - 0 N - - ZKSCAN2 Arg740Gly R740G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZKSCAN2 Glu615Asp E615D not reviewed Insufficiently evaluated not reviewed unknown Array rs8059494 1048 10758 0.0974159 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZKSCAN2 Glu478Lys E478K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZKSCAN2 Trp288Arg W288R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742723 1210 10758 0.112474 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZKSCAN2 Leu253Phe L253F not reviewed Insufficiently evaluated not reviewed unknown Array rs2112811 3127 10758 0.290667 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZKSCAN3 Arg3Thr R3T not reviewed Insufficiently evaluated not reviewed unknown Array rs733743 714 10758 0.0663692 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.975 - - 3 - 1 N - - ZKSCAN3 Val189Met V189M not reviewed Insufficiently evaluated not reviewed unknown Array rs17856167 717 10758 0.0666481 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZKSCAN3 Lys200Glu K200E not reviewed Insufficiently evaluated not reviewed unknown Array rs13201752 3895 10758 0.362056 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZKSCAN3 Lys200Thr K200T not reviewed Insufficiently evaluated not reviewed unknown Array rs13201753 3890 10758 0.361591 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZKSCAN3 His246Gln H246Q not reviewed Insufficiently evaluated not reviewed unknown Array rs213227 488 10758 0.0453616 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.712 - - -1 - 1 N - - ZKSCAN4 Gly66Ser G66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ZKSCAN4 Ser33Phe S33F not reviewed Insufficiently evaluated not reviewed unknown Array rs9986596 1758 10666 0.164823 22 0 24 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - ZKSCAN4 Leu22Phe L22F not reviewed Insufficiently evaluated not reviewed unknown Array rs62638680 402 10620 0.0378531 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 1 - 1 - - ZKSCAN5 Leu186Phe L186F not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - ZKSCAN5 Val497Gly V497G not reviewed Insufficiently evaluated not reviewed unknown Array rs60466806 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZMAT1 Gln365Arg Q365R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - ZMAT1 Gln497Arg Q497R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZMAT1 Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - ZMAT1 Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZMAT1 Arg175Lys R175K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZMAT1 Arg43Lys R43K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZMAT2 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZMAT4 Thr125Ala T125A not reviewed Insufficiently evaluated not reviewed unknown Array rs17851751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZMAT4 Thr201Ala T201A not reviewed Insufficiently evaluated not reviewed unknown Array rs17851751 2546 10758 0.236661 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - ZMIZ1 Ser142Asn S142N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - ZMIZ2 Leu382Phe L382F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZMIZ2 Leu408Phe L408F not reviewed Insufficiently evaluated not reviewed unknown Array rs3735478 2045 10460 0.195507 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 0 N - - ZMIZ2 Gly802Arg G802R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZMIZ2 Gly828Arg G828R not reviewed Insufficiently evaluated not reviewed unknown Array 113 9754 0.011585 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 6 Y 1 N - - ZMYM1 Val73Met V73M not reviewed Insufficiently evaluated not reviewed unknown Array rs2971408 9386 10470 0.896466 56 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZMYM1 Phe749Leu F749L not reviewed Insufficiently evaluated not reviewed unknown Array 47 9426 0.00498621 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - ZMYM3 Pro497Thr P497T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - ZMYM4 Leu384Phe L384F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - ZMYM4 Val452Ile V452I not reviewed Insufficiently evaluated not reviewed unknown Array rs34924462 276 10758 0.0256553 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ZMYM5 His653Arg H653R not reviewed Insufficiently evaluated not reviewed unknown Array rs9508907 6158 7820 0.787468 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 1 N - - ZMYM5 Val629Ile V629I not reviewed Insufficiently evaluated not reviewed unknown Array rs9508908 6153 7780 0.790874 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZMYM5 Ser448Leu S448L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.689 - - 6 Y 1 N - - ZMYM5 Arg378His R378H not reviewed Insufficiently evaluated not reviewed unknown Array rs7988277 19 126 0.150794 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZMYM5 Thr231Ala T231A not reviewed Insufficiently evaluated not reviewed unknown Array rs41292167 1090 10758 0.10132 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZMYM5 Cys137Phe C137F not reviewed Insufficiently evaluated not reviewed unknown Array rs9579717 1086 10756 0.100967 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ZMYM5 Ile125Val I125V not reviewed Insufficiently evaluated not reviewed unknown Array rs9579718 1094 10756 0.101711 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ZMYM6 Glu1233Lys E1233K not reviewed Insufficiently evaluated not reviewed unknown Array rs16837147 511 9512 0.0537216 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - ZMYM6 Ser371Phe S371F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZMYM6 Ile23Val I23V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZMYND12 Phe206Leu F206L not reviewed Insufficiently evaluated not reviewed unknown Array rs1034268 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - ZMYND12 Phe316Leu F316L not reviewed Insufficiently evaluated not reviewed unknown Array rs1034268 6945 10758 0.645566 48 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZMYND15 Arg401His R401H not reviewed Insufficiently evaluated not reviewed unknown Array rs35005394 262 10758 0.024354 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 3 - 3 - - ZMYND17 Ser411Ala S411A not reviewed Insufficiently evaluated not reviewed unknown Array rs61753915 688 10756 0.0639643 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZMYND17 Arg297His R297H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744605 662 10758 0.0615356 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZMYND8 Val747Ala V747A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMYND8 Val772Ala V772A not reviewed Insufficiently evaluated not reviewed unknown Array rs2275801 2485 10758 0.230991 30 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF10 His84Pro H84P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - ZNF10 Gln227Arg Q227R not reviewed Insufficiently evaluated not reviewed unknown Array rs11147259 891 10758 0.0828221 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 0 N - - ZNF100 Glu461Lys E461K not reviewed Insufficiently evaluated not reviewed unknown Array 33 10752 0.0030692 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - 0 - 0 N - - ZNF100 Thr389Ile T389I not reviewed Insufficiently evaluated not reviewed unknown Array rs7246400 5251 10672 0.492035 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.922 - - 3 - 1 N - - ZNF101 Met121Leu M121L not reviewed Insufficiently evaluated not reviewed unknown Array rs4808209 389 10758 0.0361591 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.046 - - -3 - 1 - 7 - - ZNF101 His127Arg H127R not reviewed Insufficiently evaluated not reviewed unknown Array rs59327775 268 10758 0.0249117 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF101 Pro153Ser P153S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 1 - 3 - - ZNF107 Glu40Asp E40D not reviewed Insufficiently evaluated not reviewed unknown Array rs73138709 365 10758 0.0339282 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - ZNF107 Val115Met V115M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF107 Asn401Asp N401D not reviewed Insufficiently evaluated not reviewed unknown Array 38 10744 0.00353686 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - -1 - 2 - 1 - - ZNF107 Arg539Cys R539C not reviewed Insufficiently evaluated not reviewed unknown Array 123 10744 0.0114483 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF107 Tyr780Asp Y780D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF117 Ile465Arg I465R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF117 Arg428Stop R428X not reviewed Insufficiently evaluated not reviewed unknown Array rs1404453 9377 10436 0.898524 55 0 93 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF117 Lys112Asn K112N not reviewed Insufficiently evaluated not reviewed unknown Array rs3807068 3832 10368 0.369599 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.071 - - 1 - 0 N - - ZNF117 Cys83Tyr C83Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3807069 3605 9866 0.365396 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.214 - - 6 Y 0 N - - ZNF12 Asp86Glu D86E not reviewed Insufficiently evaluated not reviewed unknown Array rs61227179 863 9514 0.0907084 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF131 Gly228Arg G228R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF131 Phe395Ile F395I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF132 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array rs1465789 6181 10758 0.574549 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF132 Gly203Asp G203D not reviewed Insufficiently evaluated not reviewed unknown Array rs1122955 1845 10758 0.1715 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF133 Leu78Phe L78F not reviewed Insufficiently evaluated not reviewed unknown Array rs34099160 1111 10758 0.103272 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF133 Thr161Ile T161I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF133 Ser192Thr S192T not reviewed Insufficiently evaluated not reviewed unknown Array rs1033545 10711 10758 0.995631 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF133 Gly193Glu G193E not reviewed Insufficiently evaluated not reviewed unknown Array rs2228273 1102 10758 0.102435 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF134 Ile30Thr I30T not reviewed Insufficiently evaluated not reviewed unknown Array rs10414451 807 10366 0.0778507 12 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF134 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array rs10413455 555 10260 0.0540936 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF134 Ser207Arg S207R not reviewed Insufficiently evaluated not reviewed unknown Array rs34034473 688 10756 0.0639643 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF135 Gly22Asp G22D not reviewed Insufficiently evaluated not reviewed unknown Array rs1469087 9463 10758 0.879624 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF135 Ser139Cys S139C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 3 - 0 N - - ZNF135 Ser139Thr S139T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ZNF135 Arg193Cys R193C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - ZNF135 Lys259Ile K259I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZNF135 Ile538Val I538V not reviewed Insufficiently evaluated not reviewed unknown Array rs73938600 69 10752 0.00641741 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - -4 - 0 N - - ZNF136 Tyr107Cys Y107C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 5 - - ZNF138 Phe75Tyr F75Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4483043 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF138 Gly93Glu G93E not reviewed Insufficiently evaluated not reviewed unknown Array rs10949946 3905 10756 0.363053 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF138 Gly97Ser G97S not reviewed Insufficiently evaluated not reviewed unknown Array 283 10750 0.0263256 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF138 Phe98Tyr F98Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4236203 10538 10746 0.980644 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF14 Thr274Ser T274S not reviewed Insufficiently evaluated not reviewed unknown Array rs12973901 2007 10756 0.186594 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF140 Ala386Val A386V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229373 29 10758 0.00269567 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF141 Thr165Ala T165A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 1 - 1 N - - ZNF142 Arg1343Trp R1343W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF142 Arg1506Trp R1506W not reviewed Insufficiently evaluated not reviewed unknown Array 24 10234 0.00234512 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF142 Ala1150Thr A1150T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF142 Ala1313Thr A1313T not reviewed Insufficiently evaluated not reviewed unknown Array rs3821033 602 10440 0.0576628 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF142 Ser1010Pro S1010P not reviewed Insufficiently evaluated not reviewed unknown Array rs61733644 155 9870 0.0157042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF142 Ser847Pro S847P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF142 Leu793His L793H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF142 Leu956His L956H not reviewed Insufficiently evaluated not reviewed unknown Array rs3770213 2773 9708 0.285641 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF142 Ser588Gly S588G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF142 Ser751Gly S751G not reviewed Insufficiently evaluated not reviewed unknown Array rs3770214 6608 9770 0.676356 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF142 Ala378Ser A378S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF142 Ala541Ser A541S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230115 4676 10700 0.437009 32 0 48 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF143 Gly461Asp G461D not reviewed Insufficiently evaluated not reviewed unknown Array rs34972213 247 10758 0.0229597 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - ZNF143 Glu561Gln E561Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10743108 10519 10758 0.977784 53 0 102 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF146 Arg8Lys R8K not reviewed Insufficiently evaluated not reviewed unknown Array rs2070132 4045 10758 0.375999 39 0 47 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ZNF154 Leu182Val L182V not reviewed Insufficiently evaluated not reviewed unknown Array rs2188736 1677 10680 0.157022 17 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF154 Gly122Val G122V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074078 1074 9986 0.107551 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF155 Ile157Phe I157F not reviewed Insufficiently evaluated not reviewed unknown Array rs398235 10517 10758 0.977598 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF155 Pro231Leu P231L not reviewed Insufficiently evaluated not reviewed unknown Array rs58537897 445 10758 0.0413646 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF155 Arg251His R251H not reviewed Insufficiently evaluated not reviewed unknown Array rs448921 9610 10758 0.893289 53 0 96 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF155 Lys379Arg K379R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302411 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - ZNF16 Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array rs3735786 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ZNF160 Lys200Asn K200N not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 1 - 1 N - - ZNF160 Pro82Arg P82R not reviewed Insufficiently evaluated not reviewed unknown Array rs8105668 8814 10758 0.819297 55 0 89 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF165 Asn347Tyr N347Y not reviewed Insufficiently evaluated not reviewed unknown Array rs36112794 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - ZNF167 Phe153Ser F153S not reviewed Insufficiently evaluated not reviewed unknown Array rs13081859 3337 10758 0.310188 26 0 29 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF167 Thr432Ala T432A not reviewed Insufficiently evaluated not reviewed unknown Array rs9835485 3735 10754 0.347313 30 0 35 0 0 - - - - - - - - - - - - - - - - 0.061 - - 1 - 0 N - - ZNF167 Thr483Ile T483I not reviewed Insufficiently evaluated not reviewed unknown Array rs9873604 7553 10758 0.702082 49 0 71 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF167 Ser746Phe S746F not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - ZNF169 Val21Gly V21G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF169 Pro72Leu P72L not reviewed Insufficiently evaluated not reviewed unknown Array rs1536690 2222 10758 0.206544 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF169 Glu78Lys E78K not reviewed Insufficiently evaluated not reviewed unknown Array rs35177967 809 10758 0.0751998 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF169 Arg338Trp R338W not reviewed Insufficiently evaluated not reviewed unknown Array rs61154129 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF169 Arg381Cys R381C not reviewed Insufficiently evaluated not reviewed unknown Array rs12236219 605 10758 0.0562372 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF169 Phe383Leu F383L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF169 Gln596His Q596H not reviewed Insufficiently evaluated not reviewed unknown Array rs12350212 759 10758 0.0705521 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF17 Thr148Lys T148K not reviewed Insufficiently evaluated not reviewed unknown Array rs2014827 1533 10756 0.142525 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF17 Asn189Asp N189D not reviewed Insufficiently evaluated not reviewed unknown Array rs28418770 762 10684 0.0713216 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF174 Arg305Gln R305Q not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 3 - 1 - - ZNF174 Gly332Arg G332R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF175 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 7 Y 1 N - - ZNF175 Ser133Cys S133C not reviewed Insufficiently evaluated not reviewed unknown Array rs61736479 1267 10756 0.117795 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 1 N - - ZNF175 Arg144Cys R144C not reviewed Insufficiently evaluated not reviewed unknown Array rs35625154 945 10758 0.0878416 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.115 - - 8 Y 0 N - - ZNF175 Glu203Lys E203K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF175 Ser287Asn S287N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF175 Tyr363Asn Y363N not reviewed Insufficiently evaluated not reviewed unknown Array rs60097262 203 10758 0.0188697 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.821 - - 5 Y 2 - 2 - - ZNF177 Thr112Met T112M not reviewed Insufficiently evaluated not reviewed unknown Array rs2217652 6861 10758 0.637758 49 0 72 0 0 - - - - - - - - - - - - - - - - 0.048 - - 2 - 0 N - - ZNF177 Ile295Phe I295F not reviewed Insufficiently evaluated not reviewed unknown Array rs2230752 6352 10758 0.590444 47 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF18 Phe476Leu F476L not reviewed Insufficiently evaluated not reviewed unknown Array rs62621364 129 10758 0.0119911 3 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - ZNF180 Thr300Ala T300A not reviewed Insufficiently evaluated not reviewed unknown Array rs73036497 191 10756 0.0177575 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF180 His289Arg H289R not reviewed Insufficiently evaluated not reviewed unknown Array rs73036500 294 10750 0.0273488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - ZNF180 Cys272Ser C272S not reviewed Insufficiently evaluated not reviewed unknown Array rs1897820 5222 10752 0.485677 40 0 47 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF180 Trp89Cys W89C not reviewed Insufficiently evaluated not reviewed unknown Array rs2253563 5435 10758 0.505205 42 0 53 0 0 - - - - - - - - - - - - - - - - 0.973 - - 7 Y 1 N - - ZNF180 Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array rs2571108 3233 10758 0.300521 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF182 Gln23Arg Q23R not reviewed Insufficiently evaluated not reviewed unknown Array rs61249955 63 8761 0.00719096 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF182 Gln42Arg Q42R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF184 His430Gln H430Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736956 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZNF184 Ala27Ser A27S not reviewed Insufficiently evaluated not reviewed unknown Array rs1883216 6504 10756 0.604686 46 0 68 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF185 Arg9His R9H not reviewed Insufficiently evaluated not reviewed unknown Array rs6526142 2414 7797 0.309606 20 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF187 Asn15Ser N15S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 0 - 1 N - - ZNF187 Tyr59Cys Y59C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF187 Arg73Gln R73Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - ZNF187 Cys79Trp C79W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ZNF189 Asp532Asn D532N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - ZNF189 Asp574Asn D574N not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.556 - - -1 - 2 - 1 - - ZNF19 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10500557 256 10756 0.0238007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - ZNF19 Gln218His Q218H not reviewed Insufficiently evaluated not reviewed unknown Array rs8050871 7075 10756 0.657772 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF192 Ser37Phe S37F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 5 Y 1 N - - ZNF192 Pro163Leu P163L not reviewed Insufficiently evaluated not reviewed unknown Array rs62620225 342 10758 0.0317903 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - ZNF192 Gly296Ser G296S not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ZNF195 Pro218Arg P218R not reviewed Insufficiently evaluated not reviewed unknown Array rs62619253 20 128 0.15625 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF195 Pro267Arg P267R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF195 Pro290Arg P290R not reviewed Insufficiently evaluated not reviewed unknown Array 1260 9840 0.128049 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF195 Arg111Cys R111C not reviewed Insufficiently evaluated not reviewed unknown Array 44 3234 0.0136054 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF20 Pro478Leu P478L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.423 - - 7 Y 1 N - - ZNF200 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - ZNF200 Thr140Met T140M not reviewed Insufficiently evaluated not reviewed unknown Array rs9302870 714 10758 0.0663692 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 - 6 - - ZNF202 Val154Ala V154A not reviewed Insufficiently evaluated not reviewed unknown Array rs1144507 7698 10758 0.71556 55 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF205 Thr43Ala T43A not reviewed Insufficiently evaluated not reviewed unknown Array rs909410 4673 10758 0.434374 36 0 43 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF205 Pro279Leu P279L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10692 0.000748222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ZNF207 Ala224Ser A224S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF207 Ala240Ser A240S not reviewed Insufficiently evaluated not reviewed unknown Array rs3795244 497 10758 0.0461982 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF208 Leu1165His L1165H not reviewed Insufficiently evaluated not reviewed unknown Array rs2359812 6515 10418 0.62536 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF208 His1115Tyr H1115Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - ZNF208 Arg943Ser R943S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - 3 - 2 N - - ZNF208 Asp907Gly D907G not reviewed Insufficiently evaluated not reviewed unknown Array rs8108957 6208 10536 0.589218 33 0 53 0 0 - - - - - - - - - - - - - - - - 0.975 - - 4 Y 1 N - - ZNF208 Lys540Glu K540E not reviewed Insufficiently evaluated not reviewed unknown Array rs10425763 3922 10508 0.373239 17 0 24 0 0 - - - - - - - - - - - - - - - - 0.55 - - 0 - 0 N - - ZNF208 Ser519Ile S519I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 5 Y 2 N - - ZNF208 Pro452Thr P452T not reviewed Insufficiently evaluated not reviewed unknown Array rs12975751 3398 10558 0.321841 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.734 - - 4 Y 0 N - - ZNF208 Ser298Leu S298L not reviewed Insufficiently evaluated not reviewed unknown Array rs12462668 1394 10546 0.132183 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 1 N - - ZNF208 Glu282Lys E282K not reviewed Insufficiently evaluated not reviewed unknown Array rs2007506 6156 10538 0.584172 44 0 68 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 1 N - - ZNF208 Ile271Val I271V not reviewed Insufficiently evaluated not reviewed unknown Array 99 10544 0.00938923 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - -4 - 0 N - - ZNF211 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs9749449 1644 10494 0.156661 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ZNF211 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs11879465 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF211 Ala327Val A327V not reviewed Insufficiently evaluated not reviewed unknown Array rs11879465 1933 10758 0.17968 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF211 Arg528Cys R528C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - ZNF211 Arg541Cys R541C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF212 Glu3Asp E3D not reviewed Insufficiently evaluated not reviewed unknown Array rs71532769 985 10332 0.0953349 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 0 N - - ZNF212 Leu197Pro L197P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF212 His293Tyr H293Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34185245 251 10758 0.0233315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - -1 - 2 - 2 - - ZNF214 Cys252Arg C252R not reviewed Insufficiently evaluated not reviewed unknown Array rs2857919 9600 10758 0.892359 56 0 102 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF214 Ile185Arg I185R not reviewed Insufficiently evaluated not reviewed unknown Array rs2239734 895 10752 0.0832403 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF214 Leu128His L128H not reviewed Insufficiently evaluated not reviewed unknown Array rs1156525 5942 10756 0.552436 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF214 Leu128Arg L128R not reviewed Insufficiently evaluated not reviewed unknown Array rs1156525 8 126 0.0634921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF214 Tyr66Cys Y66C not reviewed Insufficiently evaluated not reviewed unknown Array rs1156526 5896 10756 0.548159 44 0 59 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF215 Met119Val M119V not reviewed Insufficiently evaluated not reviewed unknown Array rs11041108 2922 10758 0.271612 18 0 22 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - ZNF215 Ser263Phe S263F not reviewed Insufficiently evaluated not reviewed unknown Array rs11041115 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.429 - - 5 Y 2 - 3 - - ZNF215 Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF215 Val323Leu V323L not reviewed Insufficiently evaluated not reviewed unknown Array rs2239730 2750 10754 0.255719 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF217 Cys999Gly C999G not reviewed Insufficiently evaluated not reviewed unknown Array rs61758384 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.886 - - 7 Y 2 N - - ZNF217 Arg903Gln R903Q not reviewed Insufficiently evaluated not reviewed unknown Array 314 10758 0.0291876 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - ZNF217 Asp889Gly D889G not reviewed Insufficiently evaluated not reviewed unknown Array rs34323943 936 10758 0.087005 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.972 - - 4 Y 1 N - - ZNF217 Val739Ile V739I not reviewed Insufficiently evaluated not reviewed unknown Array rs6063966 1642 10758 0.152631 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF219 Pro582Leu P582L not reviewed Insufficiently evaluated not reviewed unknown Array rs28520010 228 9758 0.0233654 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.034 - - 7 Y 1 - 1 - - ZNF22 Ser65Gly S65G not reviewed Insufficiently evaluated not reviewed unknown Array rs3740093 371 10758 0.034486 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 1 - 4 - - ZNF221 Val165Met V165M not reviewed Insufficiently evaluated not reviewed unknown Array rs16976937 762 10758 0.070831 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF221 Phe179Ile F179I not reviewed Insufficiently evaluated not reviewed unknown Array rs454301 10087 10758 0.937628 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF221 Ser206Thr S206T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF221 Cys256Arg C256R not reviewed Insufficiently evaluated not reviewed unknown Array rs439676 9151 10758 0.850623 52 0 89 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF221 Gln298His Q298H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF221 Ala337Pro A337P not reviewed Insufficiently evaluated not reviewed unknown Array rs435590 10261 10758 0.953802 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF221 Ser355Arg S355R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF221 Ser519Thr S519T not reviewed Insufficiently evaluated not reviewed unknown Array rs365745 8095 10758 0.752463 48 0 75 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF221 Leu533Pro L533P not reviewed Insufficiently evaluated not reviewed unknown Array rs61734609 883 10758 0.0820784 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF221 Gly557Arg G557R not reviewed Insufficiently evaluated not reviewed unknown Array rs366111 9230 10758 0.857966 52 0 88 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF222 Lys50Glu K50E not reviewed Insufficiently evaluated not reviewed unknown Array rs11880330 13 126 0.103175 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF222 Lys90Glu K90E not reviewed Insufficiently evaluated not reviewed unknown Array 757 10756 0.0703793 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF222 Val58Phe V58F not reviewed Insufficiently evaluated not reviewed unknown Array rs7258517 57 126 0.452381 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF222 Val98Phe V98F not reviewed Insufficiently evaluated not reviewed unknown Array rs7258517 5817 10756 0.540814 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF222 Arg122Gly R122G not reviewed Insufficiently evaluated not reviewed unknown Array 757 10758 0.0703662 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF222 Arg82Gly R82G not reviewed Insufficiently evaluated not reviewed unknown Array rs59926292 13 126 0.103175 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF222 Cys122Tyr C122Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73933984 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF222 Cys162Tyr C162Y not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF223 Leu138Ile L138I not reviewed Insufficiently evaluated not reviewed unknown Array rs6509138 5422 10758 0.503997 29 0 42 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF223 Gly324Ser G324S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729338 243 10758 0.0225878 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF223 Ile326Val I326V not reviewed Insufficiently evaluated not reviewed unknown Array rs60833312 386 10758 0.0358803 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF223 Arg327His R327H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF223 Pro427Thr P427T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF224 Met118Val M118V not reviewed Insufficiently evaluated not reviewed unknown Array rs2068061 9376 10758 0.871537 53 0 90 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF224 His162Leu H162L not reviewed Insufficiently evaluated not reviewed unknown Array rs4239529 9457 10758 0.879067 54 0 90 0 0 - - - - - - - - - - - - - - - - 0.262 - - 6 Y 0 N - - ZNF224 Thr177Met T177M not reviewed Insufficiently evaluated not reviewed unknown Array rs72480796 929 10758 0.0863543 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 1 N - - ZNF224 Ser214Asn S214N not reviewed Insufficiently evaluated not reviewed unknown Array rs73562196 77 10758 0.00715746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - ZNF224 Glu376Gln E376Q not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 2 N - - ZNF224 Gln447His Q447H not reviewed Insufficiently evaluated not reviewed unknown Array rs58935748 104 10758 0.00966722 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - ZNF224 Lys640Glu K640E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3746319 7673 10758 0.713237 51 0 72 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 1 N - - ZNF225 Gly368Arg G368R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 3 - 1 - - ZNF225 Thr679Ser T679S not reviewed Insufficiently evaluated not reviewed unknown Array rs16978738 205 10748 0.0190733 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - ZNF226 Glu367Lys E367K not reviewed Insufficiently evaluated not reviewed unknown Array rs61742486 358 10734 0.033352 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZNF227 Glu150Lys E150K not reviewed Insufficiently evaluated not reviewed unknown Array rs73553206 181 10758 0.0168247 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - ZNF229 Arg812Gln R812Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55700709 332 10644 0.0311913 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF229 Gly662Arg G662R not reviewed Insufficiently evaluated not reviewed unknown Array rs1434579 2700 10608 0.254525 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF229 Glu465Lys E465K not reviewed Insufficiently evaluated not reviewed unknown Array 95 10680 0.00889513 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF229 Ser417Asn S417N not reviewed Insufficiently evaluated not reviewed unknown Array rs57014690 1423 10754 0.132323 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF229 Arg337Cys R337C not reviewed Insufficiently evaluated not reviewed unknown Array rs12151338 2590 9952 0.260249 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF229 Ser156Phe S156F not reviewed Insufficiently evaluated not reviewed unknown Array rs2571174 8910 9690 0.919505 55 0 100 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF23 Gly144Ala G144A not reviewed Insufficiently evaluated not reviewed unknown Array rs72795864 1486 10758 0.13813 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF23 Ser28Gly S28G not reviewed Insufficiently evaluated not reviewed unknown Array rs2070832 8300 10758 0.771519 44 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF230 His53Tyr H53Y not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - -1 - 2 N - - ZNF230 Cys170Gly C170G not reviewed Insufficiently evaluated not reviewed unknown Array rs73554168 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - ZNF230 Thr213Ala T213A not reviewed Insufficiently evaluated not reviewed unknown Array rs73933979 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - ZNF230 Leu295Ile L295I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.423 - - -2 - 1 N - - ZNF230 Asp441Glu D441E not reviewed Insufficiently evaluated not reviewed unknown Array rs12753 2021 10756 0.187895 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - ZNF232 Ser31Leu S31L not reviewed Insufficiently evaluated not reviewed unknown Array rs73976309 184 10758 0.0171035 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF233 Ser247Pro S247P not reviewed Insufficiently evaluated not reviewed unknown Array rs16978899 290 10758 0.0269567 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 3 - 5 - - ZNF233 Lys531Thr K531T not reviewed Insufficiently evaluated not reviewed unknown Array rs1233428 7666 10758 0.712586 50 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF233 His642Arg H642R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF233 Leu662Stop L662X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF234 Val16Ile V16I not reviewed Insufficiently evaluated not reviewed unknown Array rs2293587 3468 10758 0.322365 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - ZNF235 Asp714Val D714V not reviewed Insufficiently evaluated not reviewed unknown Array rs36119289 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - 8 Y 1 N - - ZNF235 His296Pro H296P not reviewed Insufficiently evaluated not reviewed unknown Array rs2125579 4688 10758 0.435769 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - ZNF236 Ile613Val I613V not reviewed Insufficiently evaluated not reviewed unknown Array rs608433 9205 9736 0.94546 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF236 Ala1510Thr A1510T not reviewed Insufficiently evaluated not reviewed unknown Array 28 9748 0.00287238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF239 Cys209Gly C209G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230661 5454 10166 0.536494 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF239 Ala172Gly A172G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230660 5322 9952 0.534767 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF239 Glu56Lys E56K not reviewed Insufficiently evaluated not reviewed unknown Array 43 9726 0.00442114 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF24 Asn220Ser N220S not reviewed Insufficiently evaluated not reviewed unknown Array rs2032729 9529 10756 0.885924 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF253 Gly128Val G128V not reviewed Insufficiently evaluated not reviewed unknown Array 264 10600 0.0249057 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF253 Pro339His P339H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF254 Glu410Asp E410D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737180 1628 10758 0.151329 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF254 Lys537Asn K537N not reviewed Insufficiently evaluated not reviewed unknown Array rs12611425 204 10670 0.019119 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ZNF254 Arg585Trp R585W not reviewed Insufficiently evaluated not reviewed unknown Array 30 10744 0.00279226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF257 Lys73Arg K73R not reviewed Insufficiently evaluated not reviewed unknown Array rs73930397 604 10758 0.0561443 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF259 Arg433Cys R433C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF259 Glu421Gly E421G not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - ZNF259 Ala264Val A264V not reviewed Insufficiently evaluated not reviewed unknown Array rs35120633 573 10758 0.0532627 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ZNF259 Gly201Glu G201E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF263 Cys310Ser C310S not reviewed Insufficiently evaluated not reviewed unknown Array rs220379 3652 10758 0.339468 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF263 Arg325Gln R325Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 0 - 1 N - - ZNF263 Arg646Gln R646Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57710602 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 3 - 2 - - ZNF264 Gly179Arg G179R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730302 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.783 - - 6 Y 1 N - - ZNF264 Arg181Thr R181T not reviewed Insufficiently evaluated not reviewed unknown Array rs2074858 7308 10758 0.679308 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF264 Arg183His R183H not reviewed Insufficiently evaluated not reviewed unknown Array rs917340 7310 10758 0.679494 46 0 75 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF266 Arg202Cys R202C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 8 Y 1 N - - ZNF267 Tyr136Cys Y136C not reviewed Insufficiently evaluated not reviewed unknown Array rs73526498 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF267 Cys350Tyr C350Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3850114 9053 10758 0.841513 49 0 86 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF268 Met141Leu M141L not reviewed Insufficiently evaluated not reviewed unknown Array rs61960670 1962 9916 0.197862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF268 Thr175Met T175M not reviewed Insufficiently evaluated not reviewed unknown Array rs7975069 3382 9626 0.35134 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF273 His256Asn H256N not reviewed Insufficiently evaluated not reviewed unknown Array rs62455581 378 10752 0.0351562 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - ZNF273 Gly454Glu G454E not reviewed Insufficiently evaluated not reviewed unknown Array rs1830080 419 10756 0.038955 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.044 - - 6 Y 0 N - - ZNF273 Glu461Asp E461D not reviewed Insufficiently evaluated not reviewed unknown Array rs2017252 4851 10750 0.451256 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - ZNF274 Val115Ile V115I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF274 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF274 Val42Ile V42I not reviewed Insufficiently evaluated not reviewed unknown Array rs7256349 2170 10478 0.207101 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.562 - - -4 - 0 N - - ZNF274 Gln118Arg Q118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 2 - 1 - - ZNF274 Gln150Arg Q150R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 0 - 2 - 1 - - ZNF274 Gln45Arg Q45R not reviewed Insufficiently evaluated not reviewed unknown Array rs45580533 106 10524 0.0100722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF274 Pro146Ala P146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF274 Pro178Ala P178A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF274 Pro73Ala P73A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ZNF274 Arg201Gln R201Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF274 Arg274Gln R274Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF274 Arg306Gln R306Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF276 Trp188Arg W188R not reviewed Insufficiently evaluated not reviewed unknown Array rs6500437 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF276 Trp263Arg W263R not reviewed Insufficiently evaluated not reviewed unknown Array rs6500437 3972 10746 0.369626 38 0 57 0 0 - - - - - - - - - - - - - - - - 0.776 - - 7 Y 0 N - - ZNF276 Glu530Asp E530D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF276 Glu605Asp E605D not reviewed Insufficiently evaluated not reviewed unknown Array rs17227424 307 10744 0.0285741 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - ZNF277 Val174Ile V174I not reviewed Insufficiently evaluated not reviewed unknown Array rs34571830 93 10758 0.00864473 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - ZNF277 Val364Met V364M not reviewed Insufficiently evaluated not reviewed unknown Array rs11539696 615 10758 0.0571668 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF277 Leu410Ile L410I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF28 Asn652Lys N652K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF28 Ala494Thr A494T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF28 Met471Thr M471T not reviewed Insufficiently evaluated not reviewed unknown Array rs8107444 9663 10758 0.898215 53 0 93 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF28 Lys412Gln K412Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10417163 5456 10758 0.507157 25 0 31 0 0 - - - - - - - - - - - - - - - - 0.4 - - -2 - 0 N - - ZNF28 Arg350Thr R350T not reviewed Insufficiently evaluated not reviewed unknown Array rs57548937 709 10758 0.0659044 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF28 Arg126Gly R126G not reviewed Insufficiently evaluated not reviewed unknown Array rs13382164 3005 10738 0.279847 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF28 Asn116Lys N116K not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF28 Asp51Gly D51G not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF280A Arg488Ser R488S not reviewed Insufficiently evaluated not reviewed unknown Array rs361666 5928 10758 0.551032 26 0 35 0 0 - - - - - - - - - - - - - - - - 0.457 - - 3 - 0 N - - ZNF280A Phe486Leu F486L not reviewed Insufficiently evaluated not reviewed unknown Array rs361762 5919 10758 0.550195 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF280A Asn278Asp N278D not reviewed Insufficiently evaluated not reviewed unknown Array rs362003 5928 10758 0.551032 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF280A Gly249Ala G249A not reviewed Insufficiently evaluated not reviewed unknown Array rs362124 5926 10756 0.550948 27 0 39 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 0 N - - ZNF280A Asn246Ser N246S not reviewed Insufficiently evaluated not reviewed unknown Array rs362132 5928 10756 0.551134 25 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF280A Tyr137Ser Y137S not reviewed Insufficiently evaluated not reviewed unknown Array rs361580 5898 10758 0.548243 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF280A Asn136Ser N136S not reviewed Insufficiently evaluated not reviewed unknown Array rs362011 5906 10758 0.548987 25 0 35 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - ZNF280A Lys71Asn K71N not reviewed Insufficiently evaluated not reviewed unknown Array rs361959 5927 10758 0.550939 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF280B Val414Ile V414I not reviewed Insufficiently evaluated not reviewed unknown Array rs57235089 363 10758 0.0337423 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - ZNF280B Val313Met V313M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ZNF280B Glu256Ala E256A not reviewed Insufficiently evaluated not reviewed unknown Array rs2236729 9476 10758 0.880833 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF280D Val555Ile V555I not reviewed Insufficiently evaluated not reviewed unknown Array rs28620278 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF280D Val568Ile V568I not reviewed Insufficiently evaluated not reviewed unknown Array rs28620278 5249 10758 0.487916 48 0 64 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF281 Ala269Val A269V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.575 - - 2 - 1 N - - ZNF283 Thr314Ile T314I not reviewed Insufficiently evaluated not reviewed unknown Array rs2195980 9502 10658 0.891537 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF283 Arg629His R629H not reviewed Insufficiently evaluated not reviewed unknown Array rs1061768 1882 10330 0.182188 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF283 Cys638Arg C638R not reviewed Insufficiently evaluated not reviewed unknown Array rs2356437 7860 10148 0.774537 17 0 25 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF283 Cys638Tyr C638Y not reviewed Insufficiently evaluated not reviewed unknown Array 3667 10118 0.362423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF284 Gln430His Q430H not reviewed Insufficiently evaluated not reviewed unknown Array rs72480794 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - -1 - 1 N - - ZNF284 Glu577Lys E577K not reviewed Insufficiently evaluated not reviewed unknown Array rs8113249 9132 10738 0.850438 51 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF285A Arg536Gly R536G not reviewed Insufficiently evaluated not reviewed unknown Array rs12610859 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF285A Glu220Gly E220G not reviewed Insufficiently evaluated not reviewed unknown Array rs60800862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF285A Asn208Ser N208S not reviewed Insufficiently evaluated not reviewed unknown Array rs2571089 40 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF285A Asn208Thr N208T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ZNF285A Ser108Cys S108C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF285A Arg80Lys R80K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF285A Asn57His N57H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF285A Asn31Lys N31K not reviewed Insufficiently evaluated not reviewed unknown Array rs73560639 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF285A Leu24Val L24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF285A Val16Ile V16I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF285A Val13Met V13M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF286A Ala65Glu A65E not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - ZNF286A Tyr90His Y90H not reviewed Insufficiently evaluated not reviewed unknown Array rs3760299 4638 10758 0.431121 32 0 41 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ZNF286A Glu439Gly E439G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.454 - - 6 Y 1 N - - ZNF286B Thr490Ser T490S not reviewed Insufficiently evaluated not reviewed unknown Array rs9912644 1080 3234 0.333952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF286B Pro466Ser P466S not reviewed Insufficiently evaluated not reviewed unknown Array rs9912852 1143 3234 0.353432 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF286B Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array 185 3234 0.0572047 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF286B Cys255Tyr C255Y not reviewed Insufficiently evaluated not reviewed unknown Array 175 3234 0.0541126 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF287 Lys281Thr K281T not reviewed Insufficiently evaluated not reviewed unknown Array 1553 10746 0.144519 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF292 Ile1740Val I1740V not reviewed Insufficiently evaluated not reviewed unknown Array rs9362415 4958 9448 0.524767 40 0 59 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF292 Val2045Ile V2045I not reviewed Insufficiently evaluated not reviewed unknown Array rs6910541 1031 9412 0.109541 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF292 Arg2080Gln R2080Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF295 Lys218Gln K218Q not reviewed Insufficiently evaluated not reviewed unknown Array rs871546 2439 10758 0.226715 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - ZNF295 Asn185Ser N185S not reviewed Insufficiently evaluated not reviewed unknown Array rs871545 1572 10758 0.146124 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF3 Ile102Thr I102T not reviewed Insufficiently evaluated not reviewed unknown Array rs11550034 1004 9600 0.104583 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 1 N - - ZNF3 Asp35Asn D35N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - -1 - 1 N - - ZNF30 Ser24Phe S24F not reviewed Insufficiently evaluated not reviewed unknown Array rs10422961 3178 10610 0.299529 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF30 Gln123Arg Q123R not reviewed Insufficiently evaluated not reviewed unknown Array rs1811 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF30 Gln124Arg Q124R not reviewed Insufficiently evaluated not reviewed unknown Array rs1811 5180 9684 0.534903 47 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF30 Lys193Arg K193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF30 Lys194Arg K194R not reviewed Insufficiently evaluated not reviewed unknown Array rs62122088 1282 10242 0.125171 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF30 Arg379Lys R379K not reviewed Insufficiently evaluated not reviewed unknown Array rs1345658 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF30 Arg380Lys R380K not reviewed Insufficiently evaluated not reviewed unknown Array rs1345658 6515 10752 0.605934 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF30 Tyr400Cys Y400C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF30 Tyr401Cys Y401C not reviewed Insufficiently evaluated not reviewed unknown Array rs765746 1908 10756 0.177389 29 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF30 Val621Ile V621I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF30 Val622Ile V622I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF302 Tyr89Cys Y89C not reviewed Insufficiently evaluated not reviewed unknown Array rs2290652 3061 10410 0.294044 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF302 Ser217Asn S217N not reviewed Insufficiently evaluated not reviewed unknown Array rs10425561 1113 10736 0.10367 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF302 Thr278Ile T278I not reviewed Insufficiently evaluated not reviewed unknown Array rs11543232 3231 10758 0.300335 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF304 Leu121Pro L121P not reviewed Insufficiently evaluated not reviewed unknown Array rs862708 329 10758 0.0305819 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF304 Gly141Ala G141A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - ZNF304 Ala315Ser A315S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF304 Lys367Glu K367E not reviewed Insufficiently evaluated not reviewed unknown Array rs862709 10630 10758 0.988102 56 0 111 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF311 Lys511Gln K511Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6456880 4453 7524 0.591839 46 0 72 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF317 Gln19His Q19H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752199 15 128 0.117188 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF317 Phe278Ser F278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF318 Ser2243Phe S2243F not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.16 - - 5 Y 0 N - - ZNF318 Val1797Ala V1797A not reviewed Insufficiently evaluated not reviewed unknown Array rs1459675 10517 10758 0.977598 56 0 107 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF318 Thr1292Ile T1292I not reviewed Insufficiently evaluated not reviewed unknown Array rs10948072 1772 10758 0.164715 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF319 Arg477Cys R477C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF319 Ala423Thr A423T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF322A Tyr353Cys Y353C not reviewed Insufficiently evaluated not reviewed unknown Array 601 10746 0.0559278 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - ZNF322B Arg373His R373H not reviewed Insufficiently evaluated not reviewed unknown Array rs3750553 46 106 0.433962 30 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF322B Gly329Val G329V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 8 Y 1 N - - ZNF322B Leu52Phe L52F not reviewed Insufficiently evaluated not reviewed unknown Array rs41316516 149 10098 0.0147554 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF323 Arg222Gln R222Q not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF323 Lys205Arg K205R not reviewed Insufficiently evaluated not reviewed unknown Array rs853684 5836 10758 0.54248 40 0 66 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF323 Ala128Pro A128P not reviewed Insufficiently evaluated not reviewed unknown Array rs6922302 415 10758 0.0385759 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF323 Thr50Ser T50S not reviewed Insufficiently evaluated not reviewed unknown Array rs853678 2253 10758 0.209426 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF330 Leu298Met L298M not reviewed Insufficiently evaluated not reviewed unknown Array rs34631212 382 10758 0.0355085 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 2 - - ZNF331 Cys85Arg C85R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744130 427 10758 0.0396914 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - ZNF333 Glu120Ala E120A not reviewed Insufficiently evaluated not reviewed unknown Array 434 10758 0.0403421 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - ZNF333 Ala251Glu A251E not reviewed Insufficiently evaluated not reviewed unknown Array rs3885179 414 10758 0.038483 11 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZNF333 Ala537Val A537V not reviewed Insufficiently evaluated not reviewed unknown Array rs3764626 3601 10758 0.334728 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.086 - - 2 - 0 N - - ZNF333 Thr645Ile T645I not reviewed Insufficiently evaluated not reviewed unknown Array 389 10758 0.0361591 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.191 - - 3 - 0 N - - ZNF335 Asp865Glu D865E not reviewed Insufficiently evaluated not reviewed unknown Array rs41280276 497 10758 0.0461982 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - ZNF335 Ser294Thr S294T not reviewed Insufficiently evaluated not reviewed unknown Array rs6032606 9948 10758 0.924707 51 0 90 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF335 Gly98Glu G98E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF337 Val17Ile V17I not reviewed Insufficiently evaluated not reviewed unknown Array rs926487 1735 10758 0.161275 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.462 - - -4 - 0 N - - ZNF33A Gln549Glu Q549E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF33A Gln550Glu Q550E not reviewed Insufficiently evaluated not reviewed unknown Array rs2505232 5299 10758 0.492564 47 0 57 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF33A Gly614Arg G614R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF33A Gly615Arg G615R not reviewed Insufficiently evaluated not reviewed unknown Array rs12256916 342 10758 0.0317903 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF33A Gln785Arg Q785R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF33A Gln786Arg Q786R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF33B Lys374Glu K374E not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - ZNF33B His343Leu H343L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - ZNF33B Lys166Stop K166X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF33B Arg145Cys R145C not reviewed Insufficiently evaluated not reviewed unknown Array rs210280 8246 10752 0.766927 50 0 79 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF33B Lys137Ile K137I not reviewed Insufficiently evaluated not reviewed unknown Array rs74137906 598 10758 0.0555865 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.58 - - 6 Y 0 N - - ZNF341 Thr806Pro T806P not reviewed Insufficiently evaluated not reviewed unknown Array rs17090763 647 10754 0.0601637 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF343 Arg499Gly R499G not reviewed Insufficiently evaluated not reviewed unknown Array rs61740142 779 10758 0.0724112 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF343 Asn208Ser N208S not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.365 - - 0 - 1 N - - ZNF347 Asn264Asp N264D not reviewed Insufficiently evaluated not reviewed unknown Array rs2195310 6446 10758 0.599182 37 0 59 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF35 Thr2Ser T2S not reviewed Insufficiently evaluated not reviewed unknown Array rs2272044 1151 10758 0.10699 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF350 Arg501Ser R501S not reviewed Insufficiently evaluated not reviewed unknown Array rs2278415 1405 10758 0.1306 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF350 Gly286Arg G286R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF350 Leu66Pro L66P not reviewed Insufficiently evaluated not reviewed unknown Array rs2278420 2478 10758 0.23034 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF354B Val82Ile V82I not reviewed Insufficiently evaluated not reviewed unknown Array rs11952817 1516 10756 0.140945 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - ZNF354C Glu133Gly E133G not reviewed Insufficiently evaluated not reviewed unknown Array rs57271258 253 10756 0.0235218 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF354C Glu248Asp E248D not reviewed Insufficiently evaluated not reviewed unknown Array 121 10754 0.0112516 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - -2 - 0 N - - ZNF354C Phe546Leu F546L not reviewed Insufficiently evaluated not reviewed unknown Array rs1445846 7391 10742 0.688047 53 0 85 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF354C Glu553Lys E553K not reviewed Insufficiently evaluated not reviewed unknown Array rs1445845 7399 10704 0.691237 53 0 85 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ZNF358 Asn32Ser N32S not reviewed Insufficiently evaluated not reviewed unknown Array rs11555037 2517 10704 0.235146 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF358 Ser532Pro S532P not reviewed Insufficiently evaluated not reviewed unknown Array rs73488488 18 10758 0.00167317 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.516 - - 3 - 1 N - - ZNF365 Leu40Phe L40F not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF365 Ala225Val A225V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF365 Ala337Ser A337S not reviewed Insufficiently evaluated not reviewed unknown Array rs3758490 46 128 0.359375 30 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF365 Thr62Ala T62A not reviewed Insufficiently evaluated not reviewed unknown Array rs7076156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF365 Ser169Arg S169R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF365 Ser415Arg S415R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF365 Glu196Gly E196G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF365 Glu442Gly E442G not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF366 Ala739Gly A739G not reviewed Insufficiently evaluated not reviewed unknown Array rs13188519 972 10724 0.0906378 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - ZNF366 Glu674Lys E674K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF366 Val150Ile V150I not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - ZNF366 Thr96Ile T96I not reviewed Insufficiently evaluated not reviewed unknown Array rs6887708 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - ZNF366 Pro26Ser P26S not reviewed Insufficiently evaluated not reviewed unknown Array rs73104492 503 10756 0.0467646 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ZNF366 Lys20Glu K20E not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - ZNF382 Glu168Gly E168G not reviewed Insufficiently evaluated not reviewed unknown Array rs3108171 6981 10752 0.649275 52 0 80 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF382 Thr547Met T547M not reviewed Insufficiently evaluated not reviewed unknown Array rs61732180 1671 10758 0.155326 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF383 Lys308Glu K308E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.842 - - 0 - 1 N - - ZNF385B Ser140Gly S140G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF385B Ser166Gly S166G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF385B Ser242Gly S242G not reviewed Insufficiently evaluated not reviewed unknown Array rs2271761 698 10758 0.064882 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF389 Tyr11Cys Y11C not reviewed Insufficiently evaluated not reviewed unknown Array 205 3234 0.063389 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF389 Arg61Stop R61X not reviewed Insufficiently evaluated not reviewed unknown Array 40 3234 0.0123686 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF391 Ile242Thr I242T not reviewed Insufficiently evaluated not reviewed unknown Array rs58690463 2 10746 0.000186115 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF395 Met359Arg M359R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 4 Y 1 N - - ZNF396 His211Leu H211L not reviewed Insufficiently evaluated not reviewed unknown Array rs9963473 541 10758 0.0502882 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 1 N - - ZNF397OS Gln238Pro Q238P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF398 Glu87Asp E87D not reviewed Insufficiently evaluated not reviewed unknown Array rs3801979 850 10758 0.079011 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF398 Ser218Thr S218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF398 Ser389Thr S389T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732817 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - ZNF404 Gly334Ser G334S not reviewed Insufficiently evaluated not reviewed unknown Array rs239942 126 126 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF404 His230Tyr H230Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12977303 3897 10456 0.372705 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF407 Asn69Ser N69S not reviewed Insufficiently evaluated not reviewed unknown Array rs3794942 727 9570 0.0759666 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ZNF407 Gly512Arg G512R not reviewed Insufficiently evaluated not reviewed unknown Array rs7227263 1240 10136 0.122336 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF407 Asn972Thr N972T not reviewed Insufficiently evaluated not reviewed unknown Array rs948615 1913 9730 0.196608 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - ZNF407 Leu1020Trp L1020W not reviewed Insufficiently evaluated not reviewed unknown Array 59 10070 0.00585899 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - ZNF408 Arg337Pro R337P not reviewed Insufficiently evaluated not reviewed unknown Array rs36017347 100 10758 0.00929541 5 0 4 0 0 - - - - - - - - - - - - - - - - 0.885 - - 5 Y 2 N - - ZNF41 Cys301Arg C301R not reviewed Insufficiently evaluated not reviewed unknown Array rs34391244 171 8761 0.0195183 4 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ZNF41 Ile125Arg I125R not reviewed Insufficiently evaluated not reviewed unknown Array rs17147624 368 8761 0.0420043 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 3 - 8 - - ZNF414 Ala357Pro A357P not reviewed Insufficiently evaluated not reviewed unknown Array 125 1598 0.0782228 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - ZNF414 Pro77Ser P77S not reviewed Insufficiently evaluated not reviewed unknown Array rs1064010 1826 10206 0.178914 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF414 Gln65Arg Q65R not reviewed Insufficiently evaluated not reviewed unknown Array rs8100431 2429 10470 0.231996 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 0 N - - ZNF415 Ser514Gly S514G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF415 Ser527Gly S527G not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF415 Asn402Asp N402D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF415 Asn415Asp N415D not reviewed Insufficiently evaluated not reviewed unknown Array rs10410030 1877 10758 0.174475 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF415 Arg278Trp R278W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF415 Arg291Trp R291W not reviewed Insufficiently evaluated not reviewed unknown Array rs60831754 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF415 Tyr180Cys Y180C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF415 Tyr193Cys Y193C not reviewed Insufficiently evaluated not reviewed unknown Array rs1560099 1300 10758 0.12084 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF415 Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF415 Ile185Val I185V not reviewed Insufficiently evaluated not reviewed unknown Array rs1133327 5270 10758 0.489868 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF415 Ile168Leu I168L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF415 Ile181Leu I181L not reviewed Insufficiently evaluated not reviewed unknown Array rs1054485 5270 10758 0.489868 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF415 His135Pro H135P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF415 His148Pro H148P not reviewed Insufficiently evaluated not reviewed unknown Array rs16984466 763 10758 0.070924 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF417 Asn495Ser N495S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735221 2938 10754 0.273201 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF417 Arg316Leu R316L not reviewed Insufficiently evaluated not reviewed unknown Array rs3745133 3503 10758 0.325618 18 0 24 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - ZNF417 Ser310Arg S310R not reviewed Insufficiently evaluated not reviewed unknown Array rs10416686 248 10754 0.0230612 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - ZNF417 Ala189Glu A189E not reviewed Insufficiently evaluated not reviewed unknown Array rs3810130 146 9716 0.0150268 23 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF417 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array rs3826671 3333 9650 0.345389 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF419 Glu109Gln E109Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF419 Glu128Gln E128Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF419 Glu129Gln E129Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF419 Glu141Gln E141Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF419 Glu142Gln E142Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2074076 7106 10758 0.660532 47 0 69 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF419 Glu95Gln E95Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF419 Glu96Gln E96Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF419 Gly167Asp G167D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Gly168Asp G168D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Gly181Asp G181D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Gly200Asp G200D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Gly201Asp G201D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Gly213Asp G213D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Gly214Asp G214D not reviewed Insufficiently evaluated not reviewed unknown Array rs7259303 146 10756 0.0135738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF419 Ile290Val I290V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF419 Ile291Val I291V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF419 Ile304Val I304V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF419 Ile323Val I323V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF419 Ile324Val I324V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF419 Ile336Val I336V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF419 Ile337Val I337V not reviewed Insufficiently evaluated not reviewed unknown Array rs2074077 6743 10742 0.627723 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF420 Ala651Val A651V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.789 - - 2 - 1 N - - ZNF423 Leu1068Met L1068M not reviewed Insufficiently evaluated not reviewed unknown Array 57 10756 0.00529937 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - ZNF423 Ala1047Val A1047V not reviewed Insufficiently evaluated not reviewed unknown Array 74 10756 0.00687988 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ZNF423 Ala319Thr A319T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - ZNF423 Pro98Arg P98R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ZNF425 Ala529Thr A529T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753417 717 10756 0.0666605 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZNF426 Ala444Thr A444T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.469 - - 1 - 1 N - - ZNF426 Gly409Glu G409E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.267 - - 6 Y 1 N - - ZNF426 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array rs2042200 1958 10758 0.182004 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF429 Arg445Thr R445T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10650 0.00056338 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF429 His650Tyr H650Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2562473 1839 9928 0.185234 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF429 Asp671Ala D671A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF430 Lys262Stop K262X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF431 Asp3Gly D3G not reviewed Insufficiently evaluated not reviewed unknown Array rs17445374 1816 10758 0.168805 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF431 Lys361Thr K361T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF432 Gly577Asp G577D not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 4 Y 2 N - - ZNF433 Ile55Met I55M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.843 - - -1 - 1 N - - ZNF434 Cys395Tyr C395Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF434 Tyr120His Y120H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.788 - - -1 - 1 N - - ZNF436 Val73Ala V73A not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ZNF438 Leu644Val L644V not reviewed Insufficiently evaluated not reviewed unknown Array rs35346752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF438 Leu683Val L683V not reviewed Insufficiently evaluated not reviewed unknown Array rs35346752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF438 Leu693Val L693V not reviewed Insufficiently evaluated not reviewed unknown Array rs35346752 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ZNF438 Ala204Thr A204T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF438 Ala243Thr A243T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF438 Ala253Thr A253T not reviewed Insufficiently evaluated not reviewed unknown Array rs34186436 471 10758 0.0437814 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - ZNF438 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array rs10160116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF438 Pro163Ser P163S not reviewed Insufficiently evaluated not reviewed unknown Array rs10160116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - ZNF438 Pro173Ser P173S not reviewed Insufficiently evaluated not reviewed unknown Array rs10160116 3851 10758 0.357966 31 0 39 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZNF438 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ZNF439 Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array rs10421552 235 10758 0.0218442 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.824 - - 3 - 1 N - - ZNF439 Arg315Ile R315I not reviewed Insufficiently evaluated not reviewed unknown Array 344 10758 0.0319762 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZNF439 Ser396Pro S396P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ZNF439 Leu427Ser L427S not reviewed Insufficiently evaluated not reviewed unknown Array rs10500209 2089 10758 0.194181 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - ZNF44 Thr164Ala T164A not reviewed Insufficiently evaluated not reviewed unknown Array rs11879168 23 128 0.179688 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF44 Gly44Ala G44A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ZNF440 Leu43Ile L43I not reviewed Insufficiently evaluated not reviewed unknown Array rs424132 4174 10752 0.388207 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF440 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array rs427880 5989 10756 0.556805 47 0 72 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - ZNF440 Gly464Glu G464E not reviewed Insufficiently evaluated not reviewed unknown Array rs61746283 103 10752 0.00957961 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - ZNF440 Ser569Asn S569N not reviewed Insufficiently evaluated not reviewed unknown Array rs400106 10184 10722 0.949823 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF441 Arg115His R115H not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF441 Val122Ile V122I not reviewed Insufficiently evaluated not reviewed unknown Array rs799193 9089 10758 0.84486 57 0 105 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF441 Pro195Ser P195S not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF442 Glu73Stop E73X not reviewed Insufficiently evaluated not reviewed unknown Array rs73507958 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF442 Lys51Glu K51E not reviewed Insufficiently evaluated not reviewed unknown Array rs73921445 152 10758 0.014129 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.915 - - 0 - 2 N - - ZNF443 Pro591Gln P591Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7256321 3667 10758 0.340863 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF443 Glu579Gly E579G not reviewed Insufficiently evaluated not reviewed unknown Array 549 10756 0.0510413 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 1 N - - ZNF443 Cys485Phe C485F not reviewed Insufficiently evaluated not reviewed unknown Array rs10422063 7974 10756 0.741354 46 0 70 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF443 Leu481Arg L481R not reviewed Insufficiently evaluated not reviewed unknown Array rs35055629 2942 10754 0.273573 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF443 Lys480Thr K480T not reviewed Insufficiently evaluated not reviewed unknown Array rs10402252 4327 10754 0.402362 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 1 N - - ZNF443 Gln397His Q397H not reviewed Insufficiently evaluated not reviewed unknown Array rs35699767 3678 10758 0.341885 38 0 46 0 0 - - - - - - - - - - - - - - - - 0.73 - - -1 - 0 N - - ZNF443 Cys395Phe C395F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ZNF443 Lys111Asn K111N not reviewed Insufficiently evaluated not reviewed unknown Array rs4239550 3626 10758 0.337052 5 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF443 Lys111Ile K111I not reviewed Insufficiently evaluated not reviewed unknown Array rs4239550 3621 10758 0.336587 39 0 37 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF443 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array rs1134389 4296 10706 0.40127 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - ZNF443 Val44Gly V44G not reviewed Insufficiently evaluated not reviewed unknown Array rs62114866 1553 10714 0.144951 11 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF445 Ser712Arg S712R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.713 - - 3 - 1 N - - ZNF445 Tyr428Cys Y428C not reviewed Insufficiently evaluated not reviewed unknown Array rs11710965 1203 10758 0.111824 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - ZNF446 Asn192His N192H not reviewed Insufficiently evaluated not reviewed unknown Array rs893185 5505 10758 0.511712 41 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF446 Pro328Leu P328L not reviewed Insufficiently evaluated not reviewed unknown Array rs34732619 81 10730 0.00754893 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - ZNF446 Arg339His R339H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - 1 - 2 N - - ZNF446 Gly364Ala G364A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731808 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 1 - 0 N - - ZNF446 Arg387His R387H not reviewed Insufficiently evaluated not reviewed unknown Array rs882610 3473 10754 0.32295 35 0 39 0 0 - - - - - - - - - - - - - - - - 0.976 - - 1 - 1 N - - ZNF446 Arg421Trp R421W not reviewed Insufficiently evaluated not reviewed unknown Array rs58632700 1 10748 9.304e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZNF45 Arg504Lys R504K not reviewed Insufficiently evaluated not reviewed unknown Array rs407731 4905 10758 0.45594 46 0 62 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF45 Pro303Arg P303R not reviewed Insufficiently evaluated not reviewed unknown Array rs388685 4363 10758 0.405559 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.435 - - 5 Y 0 N - - ZNF45 Thr299Ala T299A not reviewed Insufficiently evaluated not reviewed unknown Array rs388706 4903 10758 0.455754 46 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF45 Thr271Met T271M not reviewed Insufficiently evaluated not reviewed unknown Array rs60068033 234 10758 0.0217513 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.112 - - 2 - 0 N - - ZNF45 Arg255Lys R255K not reviewed Insufficiently evaluated not reviewed unknown Array rs399098 4363 10758 0.405559 38 0 50 0 0 - - - - - - - - - - - - - - - - 0.099 - - -3 - 0 N - - ZNF454 Cys152Tyr C152Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6867221 2802 10756 0.260506 26 0 28 0 0 - - - - - - - - - - - - - - - - 0.409 - - 6 Y 0 N - - ZNF454 Asp166Ala D166A not reviewed Insufficiently evaluated not reviewed unknown Array rs12719860 7174 10756 0.666977 53 0 79 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF460 Thr559Ala T559A not reviewed Insufficiently evaluated not reviewed unknown Array 40 10746 0.00372231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ZNF461 Asn87Ser N87S not reviewed Insufficiently evaluated not reviewed unknown Array rs10419469 484 4848 0.099835 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF462 Gly355Asp G355D not reviewed Insufficiently evaluated not reviewed unknown Array rs73522973 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF462 Met404Val M404V not reviewed Insufficiently evaluated not reviewed unknown Array rs17723637 1318 10758 0.122513 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF462 Ser522Thr S522T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF462 Pro1187Ser P1187S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814541 1125 10758 0.104573 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF462 Arg1227Pro R1227P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF462 Asn1828Ser N1828S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814538 5395 10758 0.501487 45 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF462 Asn1995Ser N1995S not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF462 His2452Leu H2452L not reviewed Insufficiently evaluated not reviewed unknown Array rs10217192 1440 10758 0.133854 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF467 Thr324Ala T324A not reviewed Insufficiently evaluated not reviewed unknown Array rs6965332 1203 10712 0.112304 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF467 Leu173Val L173V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.114 - - 0 - 0 N - - ZNF468 Glu446Gly E446G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF468 Glu499Gly E499G not reviewed Insufficiently evaluated not reviewed unknown Array 1106 10758 0.102807 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - ZNF468 Gly424Arg G424R not reviewed Insufficiently evaluated not reviewed unknown Array rs10419826 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF468 Gly477Arg G477R not reviewed Insufficiently evaluated not reviewed unknown Array rs10419826 5544 10746 0.515913 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF468 His321Arg H321R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 1 - 2 N - - ZNF468 His374Arg H374R not reviewed Insufficiently evaluated not reviewed unknown Array rs12462929 1111 10758 0.103272 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - ZNF468 Met157Leu M157L not reviewed Insufficiently evaluated not reviewed unknown Array rs58239286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF468 Met210Leu M210L not reviewed Insufficiently evaluated not reviewed unknown Array rs58239286 2450 10758 0.227738 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.881 - - -3 - 1 N - - ZNF468 Gln110Glu Q110E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF468 Gln163Glu Q163E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747364 1089 10758 0.101227 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.996 - - -2 - 1 N - - ZNF468 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729939 1501 10758 0.139524 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF468 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF468 Leu146Ser L146S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729942 1093 10758 0.101599 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF468 Leu93Ser L93S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF468 Gly124Asp G124D not reviewed Insufficiently evaluated not reviewed unknown Array rs61732713 1109 10758 0.103086 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF468 Gly71Asp G71D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF468 Pro112Ser P112S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733832 238 10758 0.0221231 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - ZNF468 Pro59Ser P59S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF469 Gly155Ala G155A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF469 Val318Met V318M not reviewed Insufficiently evaluated not reviewed unknown Array 17 3190 0.00532915 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - 0 - 1 N - - ZNF469 Ser357Pro S357P not reviewed Insufficiently evaluated not reviewed unknown Array rs11648572 3001 3088 0.971826 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF469 Arg366Ser R366S not reviewed Insufficiently evaluated not reviewed unknown Array rs11640794 2751 3104 0.886276 47 0 83 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - ZNF469 Gly510Ala G510A not reviewed Insufficiently evaluated not reviewed unknown Array rs7199961 2475 2480 0.997984 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF469 Lys1162Glu K1162E not reviewed Insufficiently evaluated not reviewed unknown Array rs7197071 2720 3192 0.85213 41 0 71 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - ZNF469 Leu1401Pro L1401P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZNF469 Pro1420Leu P1420L not reviewed Insufficiently evaluated not reviewed unknown Array rs4782300 2872 3230 0.889164 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF469 Ala1854Thr A1854T not reviewed Insufficiently evaluated not reviewed unknown Array 7 3226 0.00216987 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - 1 - 1 N - - ZNF469 Arg2129Lys R2129K not reviewed Insufficiently evaluated not reviewed unknown Array rs13334190 208 3168 0.0656566 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 1 - 3 - - ZNF469 Leu2194Pro L2194P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 7 Y 1 N - - ZNF469 Gly2358Arg G2358R not reviewed Insufficiently evaluated not reviewed unknown Array rs12598474 1168 3232 0.361386 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - ZNF469 Lys2463Glu K2463E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - ZNF469 Leu2670Gln L2670Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3812956 1140 3232 0.352723 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF469 Ala2710Thr A2710T not reviewed Insufficiently evaluated not reviewed unknown Array rs3812955 72 3234 0.0222635 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - ZNF469 Asp2749Val D2749V not reviewed Insufficiently evaluated not reviewed unknown Array rs3812954 193 3234 0.0596784 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 0 N - - ZNF469 His2848Arg H2848R not reviewed Insufficiently evaluated not reviewed unknown Array rs1983014 3217 3228 0.996592 50 0 98 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF469 Gly2871Asp G2871D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 4 Y 1 N - - ZNF469 Glu3630Gln E3630Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1105066 1400 3196 0.438048 32 0 36 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - ZNF469 Gly3631Arg G3631R not reviewed Insufficiently evaluated not reviewed unknown Array rs3812951 57 3192 0.0178571 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF469 Thr3636Ala T3636A not reviewed Insufficiently evaluated not reviewed unknown Array rs904783 117 118 0.991525 51 0 100 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF470 Val23Leu V23L not reviewed Insufficiently evaluated not reviewed unknown Array rs10421285 4820 10758 0.448039 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF470 Lys254Arg K254R not reviewed Insufficiently evaluated not reviewed unknown Array rs3752179 31 10756 0.00288211 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.382 - - -3 - 1 N - - ZNF470 Phe349Cys F349C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ZNF470 Thr418Ile T418I not reviewed Insufficiently evaluated not reviewed unknown Array rs4801177 8610 10758 0.800335 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF470 Ile642Thr I642T not reviewed Insufficiently evaluated not reviewed unknown Array rs35077804 345 10758 0.0320692 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.034 - - 3 - 0 N - - ZNF470 Lys680Glu K680E not reviewed Insufficiently evaluated not reviewed unknown Array rs34863160 148 10758 0.0137572 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - ZNF470 Ser708Phe S708F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - ZNF471 Met192Ile M192I not reviewed Insufficiently evaluated not reviewed unknown Array rs11667052 2579 10726 0.240444 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - ZNF471 Gly406Asp G406D not reviewed Insufficiently evaluated not reviewed unknown Array rs3752176 4999 10758 0.464677 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF471 Pro430Arg P430R not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ZNF471 Ser556Cys S556C not reviewed Insufficiently evaluated not reviewed unknown Array rs16987303 1426 10758 0.132553 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ZNF473 Ser59Gly S59G not reviewed Insufficiently evaluated not reviewed unknown Array rs10419876 671 10758 0.0623722 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF473 Ser74Gly S74G not reviewed Insufficiently evaluated not reviewed unknown Array rs10419911 649 10758 0.0603272 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF473 Asn82Ser N82S not reviewed Insufficiently evaluated not reviewed unknown Array rs73932407 644 10756 0.0598736 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.109 - - 0 - 0 N - - ZNF473 Thr164Met T164M not reviewed Insufficiently evaluated not reviewed unknown Array rs16981705 652 10758 0.0606061 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 1 N - - ZNF473 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745068 651 10758 0.0605131 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - ZNF473 Arg248Gln R248Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730172 652 10758 0.0606061 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF473 Glu309Gly E309G not reviewed Insufficiently evaluated not reviewed unknown Array rs16981706 651 10758 0.0605131 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.918 - - 6 Y 1 N - - ZNF473 Thr654Ile T654I not reviewed Insufficiently evaluated not reviewed unknown Array rs10424809 652 10758 0.0606061 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.037 - - 3 - 0 N - - ZNF473 Ser662Ala S662A not reviewed Insufficiently evaluated not reviewed unknown Array rs10426374 652 10758 0.0606061 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.307 - - -1 - 0 N - - ZNF474 Ile27Asn I27N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - ZNF474 Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - ZNF474 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array rs2560306 1333 10758 0.123908 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - ZNF474 Ser274Cys S274C not reviewed Insufficiently evaluated not reviewed unknown Array rs35262183 2429 10758 0.225785 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.354 - - 3 - 0 N - - ZNF474 Arg292Gln R292Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - ZNF474 Asn317Asp N317D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - -1 - 0 N - - ZNF474 Asn317Lys N317K not reviewed Insufficiently evaluated not reviewed unknown Array rs3217313 101 10726 0.00941637 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.773 - - 1 - 1 N - - ZNF474 Ala354Thr A354T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - ZNF479 Met369Thr M369T not reviewed Insufficiently evaluated not reviewed unknown Array rs11981414 2722 10388 0.262033 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF479 His199Arg H199R not reviewed Insufficiently evaluated not reviewed unknown Array rs62464801 2606 9742 0.267502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - ZNF479 Tyr135Cys Y135C not reviewed Insufficiently evaluated not reviewed unknown Array rs62464802 2667 9694 0.275119 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF48 Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array rs12921440 6150 10758 0.571668 45 0 64 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF48 Pro443Ser P443S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 3 - 2 N - - ZNF480 Pro177Ser P177S not reviewed Insufficiently evaluated not reviewed unknown Array rs13343641 1945 10758 0.180796 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 0 N - - ZNF484 Gly466Asp G466D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF484 Gly502Asp G502D not reviewed Insufficiently evaluated not reviewed unknown Array rs3739602 105 10758 0.00976018 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.778 - - 4 Y 1 N - - ZNF485 Ala252Thr A252T not reviewed Insufficiently evaluated not reviewed unknown Array rs12354886 2611 10758 0.242703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF486 Ser261Thr S261T not reviewed Insufficiently evaluated not reviewed unknown Array 882 10550 0.0836019 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF488 Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array rs35618062 1346 10746 0.125256 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF488 Pro106Leu P106L not reviewed Insufficiently evaluated not reviewed unknown Array rs12251609 126 10752 0.0117188 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.669 - - 7 Y 1 N - - ZNF488 Pro249Ser P249S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814160 1201 10758 0.111638 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.066 - - 3 - 0 N - - ZNF490 Glu419Lys E419K not reviewed Insufficiently evaluated not reviewed unknown Array rs73497762 101 10758 0.00938836 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.454 - - 0 - 1 N - - ZNF491 Thr41Ile T41I not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - ZNF492 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71355986 1401 9486 0.147691 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF492 Arg70Thr R70T not reviewed Insufficiently evaluated not reviewed unknown Array rs12975335 162 9416 0.0172048 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - ZNF492 Cys76Arg C76R not reviewed Insufficiently evaluated not reviewed unknown Array rs62118831 758 9720 0.0779835 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ZNF492 Thr106Lys T106K not reviewed Insufficiently evaluated not reviewed unknown Array rs11672238 534 10382 0.0514352 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ZNF492 Glu201Gln E201Q not reviewed Insufficiently evaluated not reviewed unknown Array 1244 9738 0.127747 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ZNF492 Ala205Ser A205S not reviewed Insufficiently evaluated not reviewed unknown Array 754 9554 0.0789198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - ZNF492 Cys283Tyr C283Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF492 Cys314Tyr C314Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4100182 933 10458 0.089214 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.703 - - 6 Y 0 N - - ZNF492 Pro336Thr P336T not reviewed Insufficiently evaluated not reviewed unknown Array 614 10080 0.0609127 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.327 - - 4 Y 0 N - - ZNF492 Tyr451Cys Y451C not reviewed Insufficiently evaluated not reviewed unknown Array rs1835997 48 10188 0.00471142 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF492 Lys519Asn K519N not reviewed Insufficiently evaluated not reviewed unknown Array 1419 9300 0.152581 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF493 Gly182Glu G182E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF493 Gly310Glu G310E not reviewed Insufficiently evaluated not reviewed unknown Array 98 10744 0.00912137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF493 Cys195Phe C195F not reviewed Insufficiently evaluated not reviewed unknown Array rs4621113 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ZNF493 Cys323Phe C323F not reviewed Insufficiently evaluated not reviewed unknown Array rs4621113 5960 10738 0.555038 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF493 Leu292Val L292V not reviewed Insufficiently evaluated not reviewed unknown Array rs10414834 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - ZNF493 Leu420Val L420V not reviewed Insufficiently evaluated not reviewed unknown Array rs10414834 1659 10732 0.154584 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF497 His174Gln H174Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12609654 5081 10750 0.472651 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF497 Ala144Ser A144S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF497 Arg96Gly R96G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10428 0.00258918 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF498 Pro325Ala P325A not reviewed Insufficiently evaluated not reviewed unknown Array rs10239632 379 10758 0.0352296 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 1 N - - ZNF500 Gly310Ser G310S not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF500 Phe156Ser F156S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733564 680 10758 0.0632088 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF501 Met17Val M17V not reviewed Insufficiently evaluated not reviewed unknown Array rs4682752 6094 10410 0.585399 47 0 72 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ZNF501 Ile147Val I147V not reviewed Insufficiently evaluated not reviewed unknown Array rs58211979 157 10754 0.0145992 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 1 N - - ZNF502 Leu28Pro L28P not reviewed Insufficiently evaluated not reviewed unknown Array rs6798400 344 10758 0.0319762 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF502 Gln174Arg Q174R not reviewed Insufficiently evaluated not reviewed unknown Array rs56084453 1676 10758 0.155791 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.171 - - 0 - 0 N - - ZNF502 Thr184Ala T184A not reviewed Insufficiently evaluated not reviewed unknown Array 353 10758 0.0328128 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF502 Glu243Ala E243A not reviewed Insufficiently evaluated not reviewed unknown Array rs7640654 4410 10758 0.409927 34 0 46 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - ZNF506 Thr157Pro T157P not reviewed Insufficiently evaluated not reviewed unknown Array rs16996376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF506 Thr189Pro T189P not reviewed Insufficiently evaluated not reviewed unknown Array rs16996376 695 10404 0.0668012 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.646 - - 4 Y 0 N - - ZNF509 Tyr320Ser Y320S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF509 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF509 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ZNF509 Glu609Lys E609K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF509 Ala642Val A642V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF509 Gly663Arg G663R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF510 Gly634Glu G634E not reviewed Insufficiently evaluated not reviewed unknown Array rs10119874 620 10756 0.0576422 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 1 N - - ZNF510 Met401Ile M401I not reviewed Insufficiently evaluated not reviewed unknown Array rs10217494 755 10758 0.0701803 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF510 Asn273Lys N273K not reviewed Insufficiently evaluated not reviewed unknown Array rs10217154 753 10758 0.0699944 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF510 Gly202Ser G202S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731162 363 10738 0.0338052 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF510 His136Tyr H136Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61739197 490 10758 0.0455475 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.824 - - -1 - 1 N - - ZNF510 Cys89Arg C89R not reviewed Insufficiently evaluated not reviewed unknown Array rs3780548 763 10758 0.070924 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ZNF510 Gln43Arg Q43R not reviewed Insufficiently evaluated not reviewed unknown Array rs2289651 158 10758 0.0146867 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 2 - 5 - - ZNF512B Val716Glu V716E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 2 N - - ZNF512B Ala453Thr A453T not reviewed Insufficiently evaluated not reviewed unknown Array rs6062599 1566 10758 0.145566 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ZNF512B Met372Val M372V not reviewed Insufficiently evaluated not reviewed unknown Array rs817326 1820 10756 0.169208 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF512B Val288Met V288M not reviewed Insufficiently evaluated not reviewed unknown Array rs45486695 1509 10758 0.140268 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 0 N - - ZNF514 Glu9Gly E9G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 6 Y 2 N - - ZNF516 Gly1047Ser G1047S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF516 Pro484Leu P484L not reviewed Insufficiently evaluated not reviewed unknown Array rs9948381 78 5348 0.0145849 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF516 Gly239Ser G239S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10240 0.00253906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - ZNF516 Asn4Ser N4S not reviewed Insufficiently evaluated not reviewed unknown Array rs3752097 777 9958 0.0780277 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - ZNF517 Val349Ala V349A not reviewed Insufficiently evaluated not reviewed unknown Array rs2976653 8374 8412 0.995483 24 0 48 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF518A Ser714Pro S714P not reviewed Insufficiently evaluated not reviewed unknown Array 52 9472 0.00548986 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF518A Asn946His N946H not reviewed Insufficiently evaluated not reviewed unknown Array rs3814228 210 9480 0.0221519 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF518A Ile1254Phe I1254F not reviewed Insufficiently evaluated not reviewed unknown Array 399 9348 0.0426829 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF518A Arg1328Gln R1328Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3814226 74 9542 0.00775519 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF518B Ile916Val I916V not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 2 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF518B Ser523Asn S523N not reviewed Insufficiently evaluated not reviewed unknown Array rs9291410 10648 10758 0.989775 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF518B Gly262Ala G262A not reviewed Insufficiently evaluated not reviewed unknown Array rs66538112 2221 10758 0.206451 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF518B Gln253His Q253H not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - ZNF518B Ser105Pro S105P not reviewed Insufficiently evaluated not reviewed unknown Array rs10016702 2114 10758 0.196505 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF518B Gly92Ser G92S not reviewed Insufficiently evaluated not reviewed unknown Array rs10007352 965 10758 0.0897007 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - ZNF519 Arg508Ile R508I not reviewed Insufficiently evaluated not reviewed unknown Array rs61609068 2035 10758 0.189162 23 0 33 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - ZNF519 Arg229Ile R229I not reviewed Insufficiently evaluated not reviewed unknown Array rs8094412 1200 10726 0.111878 15 0 19 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 1 N - - ZNF519 Lys206Glu K206E not reviewed Insufficiently evaluated not reviewed unknown Array rs2159940 10472 10704 0.978326 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF519 Asn167Ser N167S not reviewed Insufficiently evaluated not reviewed unknown Array rs62086326 1826 10540 0.173245 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF519 Trp18Arg W18R not reviewed Insufficiently evaluated not reviewed unknown Array rs16941623 113 10758 0.0105038 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF524 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10742 0.00344442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - ZNF526 Val94Ala V94A not reviewed Insufficiently evaluated not reviewed unknown Array rs3810151 803 10758 0.0746421 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF527 Ser108Pro S108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF527 His213Arg H213R not reviewed Insufficiently evaluated not reviewed unknown Array rs4452075 2479 9462 0.261995 24 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF528 Glu406Lys E406K not reviewed Insufficiently evaluated not reviewed unknown Array rs61997201 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.104 - - 0 - 0 N - - ZNF528 Asn507Tyr N507Y not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - ZNF529 Gly316Val G316V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF529 Gly334Val G334V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF529 Gly316Arg G316R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF529 Gly334Arg G334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF529 Arg145Lys R145K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF529 Arg163Lys R163K not reviewed Insufficiently evaluated not reviewed unknown Array 26 9614 0.00270439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF529 Leu113Val L113V not reviewed Insufficiently evaluated not reviewed unknown Array rs2912444 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF529 Leu131Val L131V not reviewed Insufficiently evaluated not reviewed unknown Array rs2912444 6957 9624 0.72288 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF530 Thr64Ala T64A not reviewed Insufficiently evaluated not reviewed unknown Array rs9677004 2799 10758 0.260178 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.827 - - 1 - 0 N - - ZNF530 His110Gln H110Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2360543 8615 10758 0.800799 56 0 95 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF530 Thr169Met T169M not reviewed Insufficiently evaluated not reviewed unknown Array rs11883343 374 10758 0.0347648 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - ZNF530 Cys493Tyr C493Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF530 His569Tyr H569Y not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - ZNF532 Glu761Asp E761D not reviewed Insufficiently evaluated not reviewed unknown Array rs3737506 251 10758 0.0233315 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - ZNF532 Arg1075Gln R1075Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ZNF534 Thr57Asn T57N not reviewed Insufficiently evaluated not reviewed unknown Array rs11084161 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF534 Thr70Asn T70N not reviewed Insufficiently evaluated not reviewed unknown Array rs11084161 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF534 Ile76Val I76V not reviewed Insufficiently evaluated not reviewed unknown Array rs11084162 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF534 Ile89Val I89V not reviewed Insufficiently evaluated not reviewed unknown Array rs11084162 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF534 Thr103Ala T103A not reviewed Insufficiently evaluated not reviewed unknown Array rs11084163 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - ZNF534 Thr90Ala T90A not reviewed Insufficiently evaluated not reviewed unknown Array rs11084163 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF534 Phe153Ser F153S not reviewed Insufficiently evaluated not reviewed unknown Array rs1428180 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF534 Phe166Ser F166S not reviewed Insufficiently evaluated not reviewed unknown Array rs1428180 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF534 Gly276Glu G276E not reviewed Insufficiently evaluated not reviewed unknown Array rs1366257 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF534 Gly289Glu G289E not reviewed Insufficiently evaluated not reviewed unknown Array rs1366257 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.787 - - 6 Y 1 N - - ZNF534 Glu302Ala E302A not reviewed Insufficiently evaluated not reviewed unknown Array rs1366258 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF534 Glu315Ala E315A not reviewed Insufficiently evaluated not reviewed unknown Array rs1366258 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - ZNF534 Asn570Lys N570K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF534 Asn583Lys N583K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF534 His578Tyr H578Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2608498 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF534 His591Tyr H591Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2608498 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - ZNF536 Ala1048Val A1048V not reviewed Insufficiently evaluated not reviewed unknown Array 357 10758 0.0331846 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF540 Asp53Val D53V not reviewed Insufficiently evaluated not reviewed unknown Array rs1975937 2409 10756 0.223968 25 0 33 0 0 - - - - - - - - - - - - - - - - 0.894 - - 8 Y 1 N - - ZNF541 Gly928Arg G928R not reviewed Insufficiently evaluated not reviewed unknown Array rs12972658 348 3234 0.107607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF541 Thr729Ile T729I not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - ZNF541 Lys424Arg K424R not reviewed Insufficiently evaluated not reviewed unknown Array rs56162770 70 3140 0.022293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - ZNF541 Ser204Thr S204T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.897 - - -2 - 2 N - - ZNF543 Pro55Ala P55A not reviewed Insufficiently evaluated not reviewed unknown Array rs6510057 5971 10758 0.555029 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.342 - - 2 - 0 N - - ZNF543 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array rs8100491 8076 10758 0.750697 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF543 Pro226Ala P226A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - ZNF543 Leu246His L246H not reviewed Insufficiently evaluated not reviewed unknown Array rs1968090 8076 10758 0.750697 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF543 Glu287Val E287V not reviewed Insufficiently evaluated not reviewed unknown Array rs35238720 963 10754 0.0895481 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 1 N - - ZNF543 Gly559Arg G559R not reviewed Insufficiently evaluated not reviewed unknown Array rs73633729 362 10758 0.0336494 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - ZNF543 Met573Val M573V not reviewed Insufficiently evaluated not reviewed unknown Array rs10410649 3096 10758 0.287786 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF544 His203Asp H203D not reviewed Insufficiently evaluated not reviewed unknown Array rs6510130 725 10756 0.0674042 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZNF544 Gln700Arg Q700R not reviewed Insufficiently evaluated not reviewed unknown Array rs260462 5783 10758 0.537553 39 0 52 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZNF544 Arg708Trp R708W not reviewed Insufficiently evaluated not reviewed unknown Array rs34914886 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF546 Arg243Thr R243T not reviewed Insufficiently evaluated not reviewed unknown Array rs2111543 643 10758 0.0597695 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 1 N - - ZNF546 Ala253Val A253V not reviewed Insufficiently evaluated not reviewed unknown Array rs2111544 644 10758 0.0598624 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.651 - - 2 - 0 N - - ZNF546 Leu452Phe L452F not reviewed Insufficiently evaluated not reviewed unknown Array rs7255186 181 10758 0.0168247 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - ZNF548 Ala58Ser A58S not reviewed Insufficiently evaluated not reviewed unknown Array rs17856896 1015 10688 0.0949663 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.849 - - -1 - 0 N - - ZNF548 Ala73Thr A73T not reviewed Insufficiently evaluated not reviewed unknown Array rs4801478 10024 10578 0.947627 56 0 103 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF549 Ile8Asn I8N not reviewed Insufficiently evaluated not reviewed unknown Array rs12461014 10538 10758 0.97955 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF549 Arg236Cys R236C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF549 Val278Ile V278I not reviewed Insufficiently evaluated not reviewed unknown Array rs61735033 258 10758 0.0239822 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF550 Ile318Thr I318T not reviewed Insufficiently evaluated not reviewed unknown Array rs1548476 6492 10758 0.603458 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF551 Asn202Ser N202S not reviewed Insufficiently evaluated not reviewed unknown Array rs10413864 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF554 Pro38Ser P38S not reviewed Insufficiently evaluated not reviewed unknown Array 36 9792 0.00367647 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - 3 - 1 - 1 - - ZNF554 Glu190Gly E190G not reviewed Insufficiently evaluated not reviewed unknown Array rs867168 1275 9732 0.131011 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 1 N - - ZNF554 Val211Ile V211I not reviewed Insufficiently evaluated not reviewed unknown Array rs867169 1487 9742 0.152638 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF556 Arg137Cys R137C not reviewed Insufficiently evaluated not reviewed unknown Array rs10421121 1354 10758 0.12586 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.873 - - 8 Y 1 N - - ZNF556 Thr157Ile T157I not reviewed Insufficiently evaluated not reviewed unknown Array rs34849844 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ZNF556 Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array rs61033781 101 10758 0.00938836 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - ZNF556 His221Arg H221R not reviewed Insufficiently evaluated not reviewed unknown Array rs73519561 96 10758 0.00892359 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - ZNF558 His146Arg H146R not reviewed Insufficiently evaluated not reviewed unknown Array rs56383995 95 10742 0.00884379 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - ZNF559 Asn49Lys N49K not reviewed Insufficiently evaluated not reviewed unknown Array rs73920745 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF559 Arg345Gln R345Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 3 - 1 - - ZNF560 Ser752Phe S752F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - ZNF560 Tyr630Cys Y630C not reviewed Insufficiently evaluated not reviewed unknown Array rs10416098 620 10758 0.0576315 15 0 16 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - ZNF560 Gly418Asp G418D not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.095 - - 4 Y 0 N - - ZNF560 Trp81Stop W81X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF562 Phe153Leu F153L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10756 0.0026032 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 0 - 2 - 1 - - ZNF562 Phe81Leu F81L not reviewed Insufficiently evaluated not reviewed unknown Array rs58594363 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF562 Pro12His P12H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - ZNF563 Arg353Stop R353X not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF565 Ile188Thr I188T not reviewed Insufficiently evaluated not reviewed unknown Array rs4805162 6631 10758 0.616378 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZNF565 Gly112Val G112V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - ZNF566 His154Arg H154R not reviewed Insufficiently evaluated not reviewed unknown Array rs35217571 1 128 0.0078125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.442 - - 1 - 1 N - - ZNF566 His155Arg H155R not reviewed Insufficiently evaluated not reviewed unknown Array rs35217571 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 1 - 2 N - - ZNF568 Ile148Leu I148L not reviewed Insufficiently evaluated not reviewed unknown Array 108 9486 0.0113852 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - -2 - 0 N - - ZNF568 Met437Thr M437T not reviewed Insufficiently evaluated not reviewed unknown Array rs547483 4048 10754 0.376418 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 1 N - - ZNF568 Gln642Arg Q642R not reviewed Insufficiently evaluated not reviewed unknown Array rs1644634 6327 10236 0.618113 48 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF569 Cys115Arg C115R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 8 Y 0 N - - ZNF57 Thr223Asn T223N not reviewed Insufficiently evaluated not reviewed unknown Array rs2288958 4154 10758 0.386131 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.654 - - 1 - 0 N - - ZNF57 Thr357Met T357M not reviewed Insufficiently evaluated not reviewed unknown Array rs55682587 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - ZNF57 Tyr420Stop Y420X not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF570 Thr93Pro T93P not reviewed Insufficiently evaluated not reviewed unknown Array 117 10742 0.0108918 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 4 Y 0 N - - ZNF571 Leu573His L573H not reviewed Insufficiently evaluated not reviewed unknown Array rs4802029 2487 10758 0.231177 28 0 36 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - ZNF571 Glu252Asp E252D not reviewed Insufficiently evaluated not reviewed unknown Array rs28512414 2484 10752 0.231027 28 0 36 0 0 - - - - - - - - - - - - - - - - 0.182 - - -2 - 0 N - - ZNF571 Gln189His Q189H not reviewed Insufficiently evaluated not reviewed unknown Array rs8111790 3072 10758 0.285555 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF572 Gly380Glu G380E not reviewed Insufficiently evaluated not reviewed unknown Array rs10105106 925 10758 0.0859825 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF572 Ser448Cys S448C not reviewed Insufficiently evaluated not reviewed unknown Array rs10107774 924 10758 0.0858896 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF572 Val500Ile V500I not reviewed Insufficiently evaluated not reviewed unknown Array rs7825375 340 10758 0.0316044 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - ZNF573 Met465Val M465V not reviewed Insufficiently evaluated not reviewed unknown Array rs3095726 9327 10758 0.866983 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF573 Arg431Trp R431W not reviewed Insufficiently evaluated not reviewed unknown Array 400 10758 0.0371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF573 Gly166Ala G166A not reviewed Insufficiently evaluated not reviewed unknown Array 1701 10758 0.158115 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 1 - 1 N - - ZNF574 Arg332Gln R332Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745226 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.585 - - 0 - 2 - 3 - - ZNF576 Pro81Leu P81L not reviewed Insufficiently evaluated not reviewed unknown Array rs17849705 278 10758 0.0258412 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.031 - - 7 Y 1 - 3 - - ZNF577 Thr316Ile T316I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF577 Thr375Ile T375I not reviewed Insufficiently evaluated not reviewed unknown Array 897 10758 0.0833798 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - ZNF577 Glu314Lys E314K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF577 Glu373Lys E373K not reviewed Insufficiently evaluated not reviewed unknown Array 1146 10758 0.106525 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF577 Arg298Ser R298S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF577 Arg357Ser R357S not reviewed Insufficiently evaluated not reviewed unknown Array 1151 10758 0.10699 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF577 Arg287Cys R287C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF577 Arg346Cys R346C not reviewed Insufficiently evaluated not reviewed unknown Array 1151 10758 0.10699 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - ZNF577 Tyr211Cys Y211C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF577 Tyr270Cys Y270C not reviewed Insufficiently evaluated not reviewed unknown Array 386 10758 0.0358803 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF577 Lys187Glu K187E not reviewed Insufficiently evaluated not reviewed unknown Array rs2288868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF577 Lys246Glu K246E not reviewed Insufficiently evaluated not reviewed unknown Array rs2288868 5083 10758 0.472486 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF577 Arg123Cys R123C not reviewed Insufficiently evaluated not reviewed unknown Array 628 10758 0.0583752 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 1 N - - ZNF577 Ala84Val A84V not reviewed Insufficiently evaluated not reviewed unknown Array 763 10758 0.070924 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF578 Glu238Lys E238K not reviewed Insufficiently evaluated not reviewed unknown Array rs161931 7814 10756 0.726478 51 0 86 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF578 Thr385Ala T385A not reviewed Insufficiently evaluated not reviewed unknown Array rs35356792 885 10756 0.0822797 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF578 Lys406Met K406M not reviewed Insufficiently evaluated not reviewed unknown Array rs35720624 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF578 Ile584Val I584V not reviewed Insufficiently evaluated not reviewed unknown Array rs4802965 2538 10748 0.236137 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF579 Glu353Asp E353D not reviewed Insufficiently evaluated not reviewed unknown Array rs10403008 1538 7512 0.204739 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 1 - 2 - - ZNF582 Val49Ile V49I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743722 323 10758 0.0300242 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF584 Leu56Val L56V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.611 - - 0 - 1 N - - ZNF584 Pro142Ser P142S not reviewed Insufficiently evaluated not reviewed unknown Array rs11668789 1895 10758 0.176148 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.457 - - 3 - 0 N - - ZNF584 Thr301Ala T301A not reviewed Insufficiently evaluated not reviewed unknown Array rs7257872 3551 10758 0.33008 37 0 43 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZNF585A Val572Ile V572I not reviewed Insufficiently evaluated not reviewed unknown Array rs4805206 6415 10758 0.5963 17 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF585A Ala372Thr A372T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733481 952 10758 0.0884923 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF585A Val287Ile V287I not reviewed Insufficiently evaluated not reviewed unknown Array rs16972020 1236 10758 0.114891 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF585A Phe141Leu F141L not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF585B Ile539Thr I539T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - ZNF585B Ile231Leu I231L not reviewed Insufficiently evaluated not reviewed unknown Array rs45626541 3830 10758 0.356014 28 0 34 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - ZNF586 Ile361Thr I361T not reviewed Insufficiently evaluated not reviewed unknown Array 105 10754 0.00976381 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF586 Ile376Thr I376T not reviewed Insufficiently evaluated not reviewed unknown Array 395 10748 0.036751 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF587 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array 438 10710 0.0408964 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZNF587 Gln293Lys Q293K not reviewed Insufficiently evaluated not reviewed unknown Array rs3745132 532 10736 0.0495529 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF587 Leu316Arg L316R not reviewed Insufficiently evaluated not reviewed unknown Array rs71354064 2345 10758 0.217977 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF587 Cys329Tyr C329Y not reviewed Insufficiently evaluated not reviewed unknown Array 139 10730 0.0129543 5 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF589 Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array rs9847953 2922 10034 0.29121 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF589 Thr216Arg T216R not reviewed Insufficiently evaluated not reviewed unknown Array rs11718329 3172 10262 0.309102 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 0 N - - ZNF589 Arg292Cys R292C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10732 0.000372717 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - ZNF592 Ser926Asn S926N not reviewed Insufficiently evaluated not reviewed unknown Array rs8182086 2785 10758 0.258877 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF594 Arg507Gln R507Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58946951 184 10690 0.0172123 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.912 - - 0 - 2 N - - ZNF594 Val199Gly V199G not reviewed Insufficiently evaluated not reviewed unknown Array rs3853648 291 10184 0.0285742 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.918 - - 8 Y 3 - 2 - - ZNF594 Ile171Thr I171T not reviewed Insufficiently evaluated not reviewed unknown Array rs9908414 3797 10120 0.375198 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 0 N - - ZNF594 Gln166His Q166H not reviewed Insufficiently evaluated not reviewed unknown Array rs59197486 240 10122 0.0237107 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.622 - - -1 - 1 N - - ZNF595 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF595 Asp448Gly D448G not reviewed Insufficiently evaluated not reviewed unknown Array rs2353625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF595 Thr468Met T468M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF595 Asn481Asp N481D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF595 Ile573Thr I573T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF595 Val628Leu V628L not reviewed Insufficiently evaluated not reviewed unknown Array rs2006764 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF596 Thr136Lys T136K not reviewed Insufficiently evaluated not reviewed unknown Array rs2074718 1723 10758 0.16016 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF596 Cys164Tyr C164Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF596 Val476Gly V476G not reviewed Insufficiently evaluated not reviewed unknown Array rs2072174 980 10758 0.091095 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF597 Thr30Ser T30S not reviewed Insufficiently evaluated not reviewed unknown Array rs2270493 465 10758 0.0432236 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 2 - - ZNF598 Gly757Glu G757E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ZNF598 Arg747Pro R747P not reviewed Insufficiently evaluated not reviewed unknown Array rs2240691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF598 Trp638Arg W638R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF598 His568Arg H568R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF598 Pro454Thr P454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF598 Thr255Met T255M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ZNF598 His14Pro H14P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF599 Ser209Thr S209T not reviewed Insufficiently evaluated not reviewed unknown Array rs73591309 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.523 - - -2 - 1 N - - ZNF599 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF600 Asp672His D672H not reviewed Insufficiently evaluated not reviewed unknown Array rs73936403 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - ZNF600 Cys209Arg C209R not reviewed Insufficiently evaluated not reviewed unknown Array rs1820128 9645 10754 0.896876 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF600 Tyr156His Y156H not reviewed Insufficiently evaluated not reviewed unknown Array 425 10758 0.0395055 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF600 Pro129Arg P129R not reviewed Insufficiently evaluated not reviewed unknown Array 737 10758 0.0685072 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF600 His94Tyr H94Y not reviewed Insufficiently evaluated not reviewed unknown Array 427 10758 0.0396914 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - ZNF600 Asp85Gly D85G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - ZNF600 Thr13Arg T13R not reviewed Insufficiently evaluated not reviewed unknown Array rs7252128 409 10758 0.0380182 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 2 - - ZNF600 Met2Val M2V not reviewed Insufficiently evaluated not reviewed unknown Array rs7252818 276 10742 0.0256935 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 3 - 3 - - ZNF606 Ser141Gly S141G not reviewed Insufficiently evaluated not reviewed unknown Array rs11673029 1736 10758 0.161368 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.125 - - 2 - 0 N - - ZNF607 Lys531Arg K531R not reviewed Insufficiently evaluated not reviewed unknown Array rs958305 7858 10758 0.730433 44 0 70 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF607 Thr493Ala T493A not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF607 Gly483Arg G483R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ZNF607 Cys116Arg C116R not reviewed Insufficiently evaluated not reviewed unknown Array rs35714505 113 10758 0.0105038 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - ZNF607 Ser2Phe S2F not reviewed Insufficiently evaluated not reviewed unknown Array rs12461753 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF607 Ser2Ala S2A not reviewed Insufficiently evaluated not reviewed unknown Array rs2909097 10754 10758 0.999628 47 0 94 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF608 Thr721Asn T721N not reviewed Insufficiently evaluated not reviewed unknown Array rs6862252 5994 10758 0.557167 50 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF608 Ala240Pro A240P not reviewed Insufficiently evaluated not reviewed unknown Array 10 10752 0.000930059 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF609 Thr1356Asn T1356N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - ZNF610 Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array rs3815905 2 10758 0.000185908 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 1 N - - ZNF610 Ala131Ser A131S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241586 9319 10758 0.866239 54 0 90 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF610 Arg216Pro R216P not reviewed Insufficiently evaluated not reviewed unknown Array rs321937 9219 10758 0.856944 53 0 89 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF611 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array rs34846371 5021 10752 0.466983 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.038 - - 7 Y 0 N - - ZNF611 Pro252Thr P252T not reviewed Insufficiently evaluated not reviewed unknown Array rs4085565 5027 10752 0.467541 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ZNF613 Lys45Thr K45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF613 Lys81Thr K81T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - ZNF613 Lys57Glu K57E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ZNF613 Lys93Glu K93E not reviewed Insufficiently evaluated not reviewed unknown Array 181 10756 0.0168278 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 2 - - ZNF614 Glu459Asp E459D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - - -2 - 0 N - - ZNF614 Val415Ile V415I not reviewed Insufficiently evaluated not reviewed unknown Array rs8104890 3281 10758 0.304982 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF614 His223Arg H223R not reviewed Insufficiently evaluated not reviewed unknown Array rs35098634 924 10758 0.0858896 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.876 - - 1 - 1 N - - ZNF614 Pro204Leu P204L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 7 Y 2 N - - ZNF614 Gly160Glu G160E not reviewed Insufficiently evaluated not reviewed unknown Array rs45596739 348 10756 0.032354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - ZNF614 Gly82Arg G82R not reviewed Insufficiently evaluated not reviewed unknown Array rs61574510 1851 10758 0.172058 20 0 24 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 1 N - - ZNF614 Thr68Ile T68I not reviewed Insufficiently evaluated not reviewed unknown Array rs9636139 4510 10758 0.419223 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF614 Gln64Lys Q64K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZNF615 Arg727Lys R727K not reviewed Insufficiently evaluated not reviewed unknown Array rs16983353 4122 10758 0.383157 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF615 Thr360Ile T360I not reviewed Insufficiently evaluated not reviewed unknown Array rs1978717 4120 10756 0.383042 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF615 Gln195Arg Q195R not reviewed Insufficiently evaluated not reviewed unknown Array 592 10758 0.0550288 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.785 - - 0 - 0 N - - ZNF615 Phe166Leu F166L not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF615 Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array rs10500311 4127 10758 0.383621 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF615 Tyr74His Y74H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF616 Arg757Cys R757C not reviewed Insufficiently evaluated not reviewed unknown Array rs73571270 341 10758 0.0316973 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 8 Y 0 N - - ZNF616 His451Arg H451R not reviewed Insufficiently evaluated not reviewed unknown Array rs3764537 2980 10758 0.277003 27 0 39 0 0 - - - - - - - - - - - - - - - - 0.892 - - 1 - 1 N - - ZNF616 Asn64Ser N64S not reviewed Insufficiently evaluated not reviewed unknown Array rs73571273 450 10758 0.0418293 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - ZNF616 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array rs35582075 832 10754 0.0773666 7 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZNF620 Pro120Thr P120T not reviewed Insufficiently evaluated not reviewed unknown Array rs35217513 299 10758 0.0277933 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.761 - - 4 Y 1 N - - ZNF620 Gln355His Q355H not reviewed Insufficiently evaluated not reviewed unknown Array 405 10758 0.0376464 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - ZNF621 Tyr19Phe Y19F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - ZNF621 Thr220Ile T220I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 2 N - - ZNF623 Asn126Asp N126D not reviewed Insufficiently evaluated not reviewed unknown Array rs4874084 10702 10758 0.994795 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF623 Asn86Asp N86D not reviewed Insufficiently evaluated not reviewed unknown Array rs4874084 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF624 Lys135Asn K135N not reviewed Insufficiently evaluated not reviewed unknown Array rs8065506 4312 10758 0.400818 34 0 49 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF625 Val41Met V41M not reviewed Insufficiently evaluated not reviewed unknown Array rs7258368 1807 10758 0.167968 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF626 Glu500Lys E500K not reviewed Insufficiently evaluated not reviewed unknown Array rs10408597 5412 9262 0.584323 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF626 Arg444Lys R444K not reviewed Insufficiently evaluated not reviewed unknown Array rs62107361 8277 10474 0.790242 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF626 Thr358Arg T358R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10624 0.000753012 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF626 Lys180Asn K180N not reviewed Insufficiently evaluated not reviewed unknown Array rs73002662 933 10412 0.0896081 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF626 Ser90Asn S90N not reviewed Insufficiently evaluated not reviewed unknown Array rs8110802 699 10646 0.0656585 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF626 Gln89Glu Q89E not reviewed Insufficiently evaluated not reviewed unknown Array rs8111015 678 10638 0.0637338 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF626 Met65Thr M65T not reviewed Insufficiently evaluated not reviewed unknown Array rs8106117 948 10758 0.0881205 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF627 Arg351Gln R351Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.844 - - 0 - 1 N - - ZNF628 Val435Ala V435A not reviewed Insufficiently evaluated not reviewed unknown Array 2368 3282 0.721511 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF628 Ala614Val A614V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF630 Glu404Lys E404K not reviewed Insufficiently evaluated not reviewed unknown Array rs73493249 72 8744 0.00823422 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZNF630 Cys377Ser C377S not reviewed Insufficiently evaluated not reviewed unknown Array 35 8744 0.00400274 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ZNF638 Pro27Ser P27S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZNF638 Leu696Val L696V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF638 Asn980Ser N980S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732235 1132 10754 0.105263 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - ZNF638 Asp1035Gly D1035G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 4 Y 0 N - - ZNF638 Cys1198Arg C1198R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 8 Y 2 N - - ZNF638 Val1726Met V1726M not reviewed Insufficiently evaluated not reviewed unknown Array rs1804020 2625 10758 0.244004 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF638 Ala1912Val A1912V not reviewed Insufficiently evaluated not reviewed unknown Array rs11542286 1137 10758 0.105689 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF641 Gln363Pro Q363P not reviewed Insufficiently evaluated not reviewed unknown Array rs2732481 2639 10758 0.245306 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.287 - - 4 Y 0 N - - ZNF642 Glu157Lys E157K not reviewed Insufficiently evaluated not reviewed unknown Array rs41301076 670 10746 0.0623488 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF643 Cys13Tyr C13Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2272994 1771 10758 0.164622 20 0 22 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ZNF643 Ser273Asn S273N not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF643 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748790 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.791 - - 2 - 2 - 1 - - ZNF644 Thr870Ala T870A not reviewed Insufficiently evaluated not reviewed unknown Array 149 10756 0.0138527 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - ZNF644 Thr566Ser T566S not reviewed Insufficiently evaluated not reviewed unknown Array 149 10754 0.0138553 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF644 Met556Val M556V not reviewed Insufficiently evaluated not reviewed unknown Array 150 10756 0.0139457 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ZNF645 Asp166Glu D166E not reviewed Insufficiently evaluated not reviewed unknown Array rs5951426 2761 8761 0.315147 24 0 39 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF646 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs28407985 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF646 Glu327Gly E327G not reviewed Insufficiently evaluated not reviewed unknown Array rs749670 3191 10758 0.296616 24 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF646 Asp365Asn D365N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF646 Arg669Gln R669Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF646 Ala817Thr A817T not reviewed Insufficiently evaluated not reviewed unknown Array 571 10758 0.0530768 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF646 Gly921Ala G921A not reviewed Insufficiently evaluated not reviewed unknown Array rs35713203 3369 10742 0.313629 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF646 Ser936Leu S936L not reviewed Insufficiently evaluated not reviewed unknown Array rs28735175 191 10742 0.0177807 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF646 Arg1318Gln R1318Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3751856 3 126 0.0238095 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ZNF646 Gly1477Asp G1477D not reviewed Insufficiently evaluated not reviewed unknown Array rs7196726 4872 10758 0.452872 33 0 43 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF646 Asp1631Asn D1631N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF646 Ser1667Tyr S1667Y not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF646 Thr1788Met T1788M not reviewed Insufficiently evaluated not reviewed unknown Array 92 10286 0.00894419 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ZNF648 Asn111Lys N111K not reviewed Insufficiently evaluated not reviewed unknown Array rs12568050 1309 10758 0.121677 16 0 24 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - ZNF648 Glu42Lys E42K not reviewed Insufficiently evaluated not reviewed unknown Array rs12564283 1292 10758 0.120097 17 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF649 Ala469Thr A469T not reviewed Insufficiently evaluated not reviewed unknown Array rs1433083 266 10758 0.0247258 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 1 - 3 - - ZNF654 Ile294Thr I294T not reviewed Insufficiently evaluated not reviewed unknown Array rs7653652 7667 9702 0.790249 52 0 83 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - ZNF654 Ala331Glu A331E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF654 Ile337Val I337V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF655 Leu120Phe L120F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF655 Leu49Phe L49F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF658 Arg395Gln R395Q not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ZNF658 Pro97Leu P97L not reviewed Insufficiently evaluated not reviewed unknown Array 215 4512 0.0476507 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ZNF658 Ser68Tyr S68Y not reviewed Insufficiently evaluated not reviewed unknown Array 222 10752 0.0206473 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - ZNF660 Lys76Arg K76R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -3 - 0 N - - ZNF662 Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF662 Asn176Ser N176S not reviewed Insufficiently evaluated not reviewed unknown Array rs60980399 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.912 - - 0 - 3 - 1 - - ZNF662 Asn202Ser N202S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF665 Val647Ile V647I not reviewed Insufficiently evaluated not reviewed unknown Array rs4801958 5102 10750 0.474605 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF665 Arg638His R638H not reviewed Insufficiently evaluated not reviewed unknown Array rs73935258 214 10754 0.0198996 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF665 Asn265Asp N265D not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF665 His157Arg H157R not reviewed Insufficiently evaluated not reviewed unknown Array rs4801959 10088 10610 0.950801 56 0 104 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF665 Val84Ala V84A not reviewed Insufficiently evaluated not reviewed unknown Array rs12460170 4742 9908 0.478603 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF667 Lys260Arg K260R not reviewed Insufficiently evaluated not reviewed unknown Array rs3760849 5602 10758 0.520729 49 0 69 0 0 - - - - - - - - - - - - - - - - 0.754 - - -3 - 0 N - - ZNF667 Pro134Leu P134L not reviewed Insufficiently evaluated not reviewed unknown Array rs35914474 4438 10752 0.41276 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 0 N - - ZNF668 Gly453Arg G453R not reviewed Insufficiently evaluated not reviewed unknown Array rs73528576 7 10754 0.00065092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF668 Ala447Val A447V not reviewed Insufficiently evaluated not reviewed unknown Array rs8046978 1777 10742 0.165425 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF668 Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array rs2032917 10585 10746 0.985018 56 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF669 Val375Leu V375L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF669 Val461Leu V461L not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - ZNF669 Gly374Cys G374C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - ZNF669 Gly460Cys G460C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 3 - 2 - - ZNF669 Val154Ile V154I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10038 0.000498107 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.426 - - -4 - 1 N - - ZNF669 Val68Ile V68I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF669 Cys78Tyr C78Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61730460 173 10270 0.0168452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 1 - 1 - - ZNF669 Glu76Asp E76D not reviewed Insufficiently evaluated not reviewed unknown Array rs4925692 2584 10312 0.250582 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - ZNF670 Arg213Cys R213C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF671 Gly184Glu G184E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF671 Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746207 2021 10758 0.18786 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF675 Val197Ala V197A not reviewed Insufficiently evaluated not reviewed unknown Array rs11671053 5773 10752 0.536923 36 0 46 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 0 N - - ZNF675 Leu124Val L124V not reviewed Insufficiently evaluated not reviewed unknown Array rs4380159 10366 10754 0.96392 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF676 Ile302Val I302V not reviewed Insufficiently evaluated not reviewed unknown Array rs76328545 743 10526 0.0705871 36 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF676 Lys295Asn K295N not reviewed Insufficiently evaluated not reviewed unknown Array rs76456473 62 10590 0.00585458 37 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF676 Ser290Phe S290F not reviewed Insufficiently evaluated not reviewed unknown Array 105 10618 0.00988887 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF676 Glu96Lys E96K not reviewed Insufficiently evaluated not reviewed unknown Array rs12986319 1114 10048 0.110868 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF676 Met66Thr M66T not reviewed Insufficiently evaluated not reviewed unknown Array rs62000438 400 9808 0.040783 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF676 Gly27Glu G27E not reviewed Insufficiently evaluated not reviewed unknown Array rs8104929 3310 7524 0.439926 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF677 Asn501Ser N501S not reviewed Insufficiently evaluated not reviewed unknown Array 128 10756 0.0119003 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - ZNF678 Pro152Thr P152T not reviewed Insufficiently evaluated not reviewed unknown Array rs61283390 147 10750 0.0136744 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 4 Y 1 - 2 - - ZNF678 Val189Leu V189L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744724 177 10756 0.0164559 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ZNF679 Glu69Gly E69G not reviewed Insufficiently evaluated not reviewed unknown Array rs12154540 863 3234 0.266852 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 1 N - - ZNF679 Cys245Arg C245R not reviewed Insufficiently evaluated not reviewed unknown Array 18 3234 0.00556586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 8 Y 2 N - - ZNF679 Glu328Lys E328K not reviewed Insufficiently evaluated not reviewed unknown Array rs10949885 606 3234 0.187384 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 1 N - - ZNF680 Ser107Cys S107C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF681 Lys532Stop K532X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF681 Thr522Ala T522A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF681 Lys479Arg K479R not reviewed Insufficiently evaluated not reviewed unknown Array rs1852432 942 10746 0.0876605 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF681 Arg367Lys R367K not reviewed Insufficiently evaluated not reviewed unknown Array rs1818990 10455 10742 0.973282 39 0 78 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF681 Leu295Ser L295S not reviewed Insufficiently evaluated not reviewed unknown Array rs1818989 10469 10758 0.973136 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF681 Asp84His D84H not reviewed Insufficiently evaluated not reviewed unknown Array rs7248674 10462 10738 0.974297 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF682 Val418Ile V418I not reviewed Insufficiently evaluated not reviewed unknown Array rs17679334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF682 Val450Ile V450I not reviewed Insufficiently evaluated not reviewed unknown Array rs17679334 2192 10660 0.205629 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - ZNF682 Thr177Ile T177I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF682 Thr209Ile T209I not reviewed Insufficiently evaluated not reviewed unknown Array rs2075090 592 10324 0.0573421 19 0 20 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 0 N - - ZNF682 Val33Met V33M not reviewed Insufficiently evaluated not reviewed unknown Array rs7255165 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF682 Val65Met V65M not reviewed Insufficiently evaluated not reviewed unknown Array rs7255165 2391 10468 0.22841 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ZNF683 Arg288Leu R288L not reviewed Insufficiently evaluated not reviewed unknown Array rs11247933 3113 10758 0.289366 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.352 - - 6 Y 0 N - - ZNF683 Leu134Val L134V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10616 0.000376789 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - ZNF683 His53Arg H53R not reviewed Insufficiently evaluated not reviewed unknown Array rs10794531 3953 10750 0.367721 41 0 54 0 0 - - - - - - - - - - - - - - - - 0.446 - - 1 - 0 N - - ZNF683 Asp48Gly D48G not reviewed Insufficiently evaluated not reviewed unknown Array rs10794532 2153 10754 0.200205 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 1 N - - ZNF687 Gly259Glu G259E not reviewed Insufficiently evaluated not reviewed unknown Array rs3748545 1331 10758 0.123722 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF687 Gly636Ser G636S not reviewed Insufficiently evaluated not reviewed unknown Array rs12745008 288 10758 0.0267708 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 3 - 1 - - ZNF687 Pro938His P938H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10564 0.00255585 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 2 N - - ZNF687 Arg1066Trp R1066W not reviewed Insufficiently evaluated not reviewed unknown Array rs60042414 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - ZNF688 Arg205Leu R205L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF688 Arg219Leu R219L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF692 Pro230Arg P230R not reviewed Insufficiently evaluated not reviewed unknown Array rs13313088 1459 10758 0.13562 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - ZNF692 Pro235Arg P235R not reviewed Insufficiently evaluated not reviewed unknown Array rs13313088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF692 Ala116Thr A116T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - ZNF692 Ala121Thr A121T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF695 Asn261Thr N261T not reviewed Insufficiently evaluated not reviewed unknown Array rs2642993 811 10286 0.078845 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF695 Val87Ala V87A not reviewed Insufficiently evaluated not reviewed unknown Array rs2642992 5190 9506 0.545971 39 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF695 Arg84Lys R84K not reviewed Insufficiently evaluated not reviewed unknown Array rs2642973 8587 10300 0.833689 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF695 Arg26Gln R26Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11807434 318 10730 0.0296365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF697 Phe24Val F24V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9736 0.000308134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - ZNF699 Thr358Ala T358A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.208 - - 1 - 1 N - - ZNF7 Gly188Arg G188R not reviewed Insufficiently evaluated not reviewed unknown Array rs1735169 5143 10758 0.478063 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF7 Lys231Arg K231R not reviewed Insufficiently evaluated not reviewed unknown Array rs61254094 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -3 - 0 N - - ZNF7 Cys244Ser C244S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.879 - - 3 - 2 N - - ZNF70 Glu55Gly E55G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ZNF700 Ser68Asn S68N not reviewed Insufficiently evaluated not reviewed unknown Array 440 10758 0.0408998 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF700 Ser68Arg S68R not reviewed Insufficiently evaluated not reviewed unknown Array 439 10758 0.0408068 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF700 Arg210Gly R210G not reviewed Insufficiently evaluated not reviewed unknown Array rs73509026 689 10758 0.0640454 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.954 - - 6 Y 1 N - - ZNF700 Glu269Gly E269G not reviewed Insufficiently evaluated not reviewed unknown Array rs12327617 775 10758 0.0720394 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - ZNF700 Phe287Cys F287C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ZNF701 Leu4Pro L4P not reviewed Insufficiently evaluated not reviewed unknown Array rs162832 8498 10756 0.790071 52 0 90 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF701 Thr116Ile T116I not reviewed Insufficiently evaluated not reviewed unknown Array rs366793 7607 10758 0.707102 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF701 Thr271Lys T271K not reviewed Insufficiently evaluated not reviewed unknown Array rs373554 7609 10758 0.707288 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF701 Thr271Met T271M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ZNF701 Arg429His R429H not reviewed Insufficiently evaluated not reviewed unknown Array rs67702454 2523 10736 0.235004 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF704 Arg52Cys R52C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ZNF704 Ala35Ser A35S not reviewed Insufficiently evaluated not reviewed unknown Array rs3907424 2612 10758 0.242796 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF705A His2Pro H2P not reviewed Insufficiently evaluated not reviewed unknown Array rs74060111 444 6332 0.07012 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.968 - - 5 Y 1 N - - ZNF705A Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array rs10743251 4762 10738 0.443472 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 1 N - - ZNF705A Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array rs10743252 4847 10754 0.450716 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF705A Lys142Gln K142Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10743253 4898 10758 0.455289 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.852 - - -2 - 1 N - - ZNF705A Arg186His R186H not reviewed Insufficiently evaluated not reviewed unknown Array rs11043758 4274 10724 0.398545 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF705D Arg272Lys R272K not reviewed Insufficiently evaluated not reviewed unknown Array 82 9562 0.00857561 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF707 Pro96His P96H not reviewed Insufficiently evaluated not reviewed unknown Array rs6987308 7663 10066 0.761276 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF708 His438Arg H438R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10744 0.0018615 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ZNF708 Phe289Leu F289L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ZNF708 Arg130Gln R130Q not reviewed Insufficiently evaluated not reviewed unknown Array rs504280 2398 10758 0.222904 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF708 Lys122Thr K122T not reviewed Insufficiently evaluated not reviewed unknown Array rs1781872 1821 10758 0.169269 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - ZNF708 Lys113Glu K113E not reviewed Insufficiently evaluated not reviewed unknown Array rs1781873 6304 10758 0.585983 44 0 66 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF708 Ala71Val A71V not reviewed Insufficiently evaluated not reviewed unknown Array rs547516 10480 10754 0.974521 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF71 Arg27Gly R27G not reviewed Insufficiently evaluated not reviewed unknown Array rs10405299 431 10758 0.0400632 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 3 - 2 - - ZNF71 Cys75Tyr C75Y not reviewed Insufficiently evaluated not reviewed unknown Array 234 10758 0.0217513 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZNF71 Val105Ile V105I not reviewed Insufficiently evaluated not reviewed unknown Array rs2072501 2449 10758 0.227645 24 0 27 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF71 Glu358Gln E358Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZNF710 Gly604Ser G604S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF713 Thr257Ser T257S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZNF714 Lys331Arg K331R not reviewed Insufficiently evaluated not reviewed unknown Array rs2884554 7063 10604 0.666069 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF716 Val277Ala V277A not reviewed Insufficiently evaluated not reviewed unknown Array rs10272498 1257 3234 0.388683 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF716 Lys409Gln K409Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13235676 1257 3234 0.388683 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Phe913Cys F913C not reviewed Insufficiently evaluated not reviewed unknown Array rs63417460 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Phe913Ser F913S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF717 Ser911Phe S911F not reviewed Insufficiently evaluated not reviewed unknown Array 1 14 0.0714286 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF717 Val905Ala V905A not reviewed Insufficiently evaluated not reviewed unknown Array rs73843008 15 86 0.174419 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 Glu901Asp E901D not reviewed Insufficiently evaluated not reviewed unknown Array rs1732425 29 90 0.322222 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Glu901Gln E901Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF717 Asp898Glu D898E not reviewed Insufficiently evaluated not reviewed unknown Array rs2118754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF717 Gln881Arg Q881R not reviewed Insufficiently evaluated not reviewed unknown Array rs1732424 8 44 0.181818 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Glu871Lys E871K not reviewed Insufficiently evaluated not reviewed unknown Array 8 42 0.190476 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Ser858Gly S858G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF717 Ser855Pro S855P not reviewed Insufficiently evaluated not reviewed unknown Array 7 44 0.159091 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Thr850Ile T850I not reviewed Insufficiently evaluated not reviewed unknown Array 8 40 0.2 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Pro841His P841H not reviewed Insufficiently evaluated not reviewed unknown Array rs1686217 13 72 0.180556 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF717 Gly838Glu G838E not reviewed Insufficiently evaluated not reviewed unknown Array 12 54 0.222222 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 His832Gln H832Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 48 0.479167 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF717 Leu829Pro L829P not reviewed Insufficiently evaluated not reviewed unknown Array 10 78 0.128205 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Lys826Glu K826E not reviewed Insufficiently evaluated not reviewed unknown Array 9 102 0.0882353 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Arg820Lys R820K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF717 Pro813Thr P813T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Thr807Ile T807I not reviewed Insufficiently evaluated not reviewed unknown Array 17 80 0.2125 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Thr799Ala T799A not reviewed Insufficiently evaluated not reviewed unknown Array 63 126 0.5 50 0 50 0 0 - - - - - - - - - - - - - - - - 0.208 - - 1 - 0 N - - ZNF717 Lys798Arg K798R not reviewed Insufficiently evaluated not reviewed unknown Array rs3009024 10 118 0.0847458 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 - 1 - - ZNF717 Asp797His D797H not reviewed Insufficiently evaluated not reviewed unknown Array 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Tyr786Cys Y786C not reviewed Insufficiently evaluated not reviewed unknown Array 62 124 0.5 49 0 49 0 0 - - - - - - - - - - - - - - - - 0.793 - - 6 Y 0 N - - ZNF717 Thr775Met T775M not reviewed Insufficiently evaluated not reviewed unknown Array 61 122 0.5 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 Ser774Asn S774N not reviewed Insufficiently evaluated not reviewed unknown Array 63 124 0.508065 50 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Cys740Gly C740G not reviewed Insufficiently evaluated not reviewed unknown Array rs17028799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - ZNF717 Arg726Gln R726Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 92 0.173913 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Val723Ile V723I not reviewed Insufficiently evaluated not reviewed unknown Array 16 92 0.173913 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF717 Lys722Gln K722Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 90 0.166667 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Arg719Gly R719G not reviewed Insufficiently evaluated not reviewed unknown Array 14 94 0.148936 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Gln716Glu Q716E not reviewed Insufficiently evaluated not reviewed unknown Array rs3009023 7 106 0.0660377 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Pro702Ser P702S not reviewed Insufficiently evaluated not reviewed unknown Array 44 110 0.4 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Pro698Leu P698L not reviewed Insufficiently evaluated not reviewed unknown Array 59 118 0.5 47 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Asn679Lys N679K not reviewed Insufficiently evaluated not reviewed unknown Array 34 90 0.377778 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF717 Met678Thr M678T not reviewed Insufficiently evaluated not reviewed unknown Array 32 88 0.363636 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 Asp676Asn D676N not reviewed Insufficiently evaluated not reviewed unknown Array 7 116 0.0603448 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF717 Arg674His R674H not reviewed Insufficiently evaluated not reviewed unknown Array rs3009020 45 92 0.48913 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF717 Lys672Arg K672R not reviewed Insufficiently evaluated not reviewed unknown Array 28 102 0.27451 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - ZNF717 Arg667Ser R667S not reviewed Insufficiently evaluated not reviewed unknown Array 12 102 0.117647 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Ile664Val I664V not reviewed Insufficiently evaluated not reviewed unknown Array 7 76 0.0921053 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF717 Arg658Cys R658C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF717 Cys649Stop C649X not reviewed Insufficiently evaluated not reviewed unknown Array 38 100 0.38 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF717 Val648Ile V648I not reviewed Insufficiently evaluated not reviewed unknown Array rs11122676 35 0 49 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF717 Arg629His R629H not reviewed Insufficiently evaluated not reviewed unknown Array rs1615736 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 Phe628Val F628V not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Glu620Stop E620X not reviewed Insufficiently evaluated not reviewed unknown Array 5 94 0.0531915 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF717 Tyr619Asn Y619N not reviewed Insufficiently evaluated not reviewed unknown Array 5 92 0.0543478 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF717 Arg611Ile R611I not reviewed Insufficiently evaluated not reviewed unknown Array rs2918517 5 64 0.078125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Glu595Lys E595K not reviewed Insufficiently evaluated not reviewed unknown Array 2 28 0.0714286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Gly587Ser G587S not reviewed Insufficiently evaluated not reviewed unknown Array 5 18 0.277778 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 His581Arg H581R not reviewed Insufficiently evaluated not reviewed unknown Array 2 42 0.047619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 Lys575Asn K575N not reviewed Insufficiently evaluated not reviewed unknown Array rs62250106 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 His573Tyr H573Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62250107 12 24 0.5 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF717 Cys565Ser C565S not reviewed Insufficiently evaluated not reviewed unknown Array 9 20 0.45 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 His553Pro H553P not reviewed Insufficiently evaluated not reviewed unknown Array 6 28 0.214286 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF717 Tyr549Stop Y549X not reviewed Insufficiently evaluated not reviewed unknown Array 6 32 0.1875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF717 Glu539Lys E539K not reviewed Insufficiently evaluated not reviewed unknown Array 34 70 0.485714 32 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Ala530Thr A530T not reviewed Insufficiently evaluated not reviewed unknown Array rs73843012 30 60 0.5 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF717 Arg517His R517H not reviewed Insufficiently evaluated not reviewed unknown Array 5 60 0.0833333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF717 Phe516Val F516V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Cys512Arg C512R not reviewed Insufficiently evaluated not reviewed unknown Array 26 74 0.351351 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Thr500Ala T500A not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 Trp499Arg W499R not reviewed Insufficiently evaluated not reviewed unknown Array 14 108 0.12963 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Ile496Val I496V not reviewed Insufficiently evaluated not reviewed unknown Array 14 108 0.12963 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF717 Leu468Ile L468I not reviewed Insufficiently evaluated not reviewed unknown Array rs62250108 56 114 0.491228 46 0 46 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Gly457Arg G457R not reviewed Insufficiently evaluated not reviewed unknown Array rs73843014 43 100 0.43 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Cys453Tyr C453Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10442977 25 78 0.320513 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Arg437Lys R437K not reviewed Insufficiently evaluated not reviewed unknown Array 48 100 0.48 39 0 39 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF717 Glu430Lys E430K not reviewed Insufficiently evaluated not reviewed unknown Array 48 100 0.48 39 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Glu420Gln E420Q not reviewed Insufficiently evaluated not reviewed unknown Array 44 106 0.415094 37 0 37 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Gly419Trp G419W not reviewed Insufficiently evaluated not reviewed unknown Array 44 106 0.415094 37 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Ile412Val I412V not reviewed Insufficiently evaluated not reviewed unknown Array rs7652073 8 114 0.0701754 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF717 Cys397Phe C397F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Glu358Gln E358Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62250110 50 108 0.462963 41 0 41 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Arg350Cys R350C not reviewed Insufficiently evaluated not reviewed unknown Array rs1962893 97 120 0.808333 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Arg349His R349H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 Phe348Val F348V not reviewed Insufficiently evaluated not reviewed unknown Array rs2209202 32 108 0.296296 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Ile327Thr I327T not reviewed Insufficiently evaluated not reviewed unknown Array 55 110 0.5 45 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Tyr322Cys Y322C not reviewed Insufficiently evaluated not reviewed unknown Array rs1962895 33 108 0.305556 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Trp315Cys W315C not reviewed Insufficiently evaluated not reviewed unknown Array rs10449518 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ZNF717 Cys302Tyr C302Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Cys302Arg C302R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF717 Leu300Ile L300I not reviewed Insufficiently evaluated not reviewed unknown Array rs4080850 63 128 0.492188 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF717 Tyr283His Y283H not reviewed Insufficiently evaluated not reviewed unknown Array rs4079269 62 124 0.5 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF717 Thr271Ser T271S not reviewed Insufficiently evaluated not reviewed unknown Array 50 116 0.431034 39 0 39 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ZNF717 Gly260Arg G260R not reviewed Insufficiently evaluated not reviewed unknown Array 36 90 0.4 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Val255Gly V255G not reviewed Insufficiently evaluated not reviewed unknown Array rs3009006 118 122 0.967213 47 0 90 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Val251Ile V251I not reviewed Insufficiently evaluated not reviewed unknown Array 52 102 0.509804 40 0 41 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF717 Ser249Stop S249X not reviewed Insufficiently evaluated not reviewed unknown Array rs10442978 31 90 0.344444 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF717 Phe236Val F236V not reviewed Insufficiently evaluated not reviewed unknown Array rs1686397 24 120 0.2 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Val233Gly V233G not reviewed Insufficiently evaluated not reviewed unknown Array rs62250111 60 104 0.576923 40 0 46 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Arg229Lys R229K not reviewed Insufficiently evaluated not reviewed unknown Array rs4509589 23 118 0.194915 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF717 Thr220Met T220M not reviewed Insufficiently evaluated not reviewed unknown Array rs62246570 55 106 0.518868 40 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 Gly215Val G215V not reviewed Insufficiently evaluated not reviewed unknown Array 23 104 0.221154 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Thr208Pro T208P not reviewed Insufficiently evaluated not reviewed unknown Array 23 96 0.239583 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF717 Leu206Val L206V not reviewed Insufficiently evaluated not reviewed unknown Array rs3009004 14 96 0.145833 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 His192Arg H192R not reviewed Insufficiently evaluated not reviewed unknown Array 10 38 0.263158 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 1 N - - ZNF717 Cys183Phe C183F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Cys183Ser C183S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Cys183Arg C183R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF717 Gly177Arg G177R not reviewed Insufficiently evaluated not reviewed unknown Array 11 66 0.166667 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Phe167Leu F167L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF717 Met165Val M165V not reviewed Insufficiently evaluated not reviewed unknown Array 48 96 0.5 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Asp161Val D161V not reviewed Insufficiently evaluated not reviewed unknown Array rs73843015 44 88 0.5 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Met154Val M154V not reviewed Insufficiently evaluated not reviewed unknown Array 20 84 0.238095 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Gly153Glu G153E not reviewed Insufficiently evaluated not reviewed unknown Array 20 84 0.238095 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Leu136Phe L136F not reviewed Insufficiently evaluated not reviewed unknown Array 13 34 0.382353 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Thr133Arg T133R not reviewed Insufficiently evaluated not reviewed unknown Array rs4240968 4 92 0.0434783 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Gln114Lys Q114K not reviewed Insufficiently evaluated not reviewed unknown Array rs4011155 25 58 0.431034 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF717 Ile97Thr I97T not reviewed Insufficiently evaluated not reviewed unknown Array 8 32 0.25 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 Pro87Leu P87L not reviewed Insufficiently evaluated not reviewed unknown Array rs1971517 33 68 0.485294 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Pro80Thr P80T not reviewed Insufficiently evaluated not reviewed unknown Array 10 76 0.131579 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.276 - - 4 Y 0 N - - ZNF717 Tyr64Cys Y64C not reviewed Insufficiently evaluated not reviewed unknown Array rs2918519 103 118 0.872881 45 0 78 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Leu52Val L52V not reviewed Insufficiently evaluated not reviewed unknown Array rs72503552 23 84 0.27381 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array 29 86 0.337209 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 Asp41Asn D41N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF717 Trp36Cys W36C not reviewed Insufficiently evaluated not reviewed unknown Array 32 68 0.470588 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Val29Met V29M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF718 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array rs6834707 252 10758 0.0234244 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF718 Lys140Arg K140R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - ZNF718 Lys140Asn K140N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ZNF718 Ser297Tyr S297Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7677201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF718 Cys400Stop C400X not reviewed Insufficiently evaluated not reviewed unknown Array rs7692722 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF718 His413Arg H413R not reviewed Insufficiently evaluated not reviewed unknown Array rs7440274 18 128 0.140625 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF721 Arg142His R142H not reviewed Insufficiently evaluated not reviewed unknown Array rs72501950 1626 10562 0.153948 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF727 Arg2Stop R2X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ZNF727 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array rs4717170 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF727 Pro339Thr P339T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF727 Pro339Ser P339S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF735 Ser102Gly S102G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF735 His224Asn H224N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF737 Lys516Glu K516E not reviewed Insufficiently evaluated not reviewed unknown Array rs10411329 1190 3234 0.367965 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF737 Val125Leu V125L not reviewed Insufficiently evaluated not reviewed unknown Array rs9653154 50 3234 0.0154607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF737 Cys78Gly C78G not reviewed Insufficiently evaluated not reviewed unknown Array rs7254995 222 3234 0.0686456 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - 7 Y 1 N - - ZNF74 Glu117Lys E117K not reviewed Insufficiently evaluated not reviewed unknown Array rs3747076 40 9664 0.00413907 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF740 Val150Ala V150A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - ZNF740 Glu154Val E154V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - ZNF749 Gln243Arg Q243R not reviewed Insufficiently evaluated not reviewed unknown Array rs12986235 2800 10758 0.260271 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF749 Ser709Leu S709L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF749 Ile771Arg I771R not reviewed Insufficiently evaluated not reviewed unknown Array rs7246856 6873 10750 0.639349 52 0 79 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF750 Gln392Arg Q392R not reviewed Insufficiently evaluated not reviewed unknown Array rs34687659 475 10758 0.0441532 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - ZNF750 Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array rs35653278 811 10758 0.0753858 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 1 N - - ZNF750 Met235Val M235V not reviewed Insufficiently evaluated not reviewed unknown Array rs8074277 1748 10758 0.162484 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ZNF75A Val84Ala V84A not reviewed Insufficiently evaluated not reviewed unknown Array rs17611866 2001 10758 0.186001 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - ZNF76 Thr48Met T48M not reviewed Insufficiently evaluated not reviewed unknown Array rs2228265 1056 10758 0.0981595 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF76 Ala558Pro A558P not reviewed Insufficiently evaluated not reviewed unknown Array rs73409749 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF76 Ser566Leu S566L not reviewed Insufficiently evaluated not reviewed unknown Array 63 10756 0.00585719 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - ZNF761 Tyr122Stop Y122X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF761 Cys168Tyr C168Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1984432 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF761 Arg528Gln R528Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2708742 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF761 Arg603Gly R603G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF761 Arg603Thr R603T not reviewed Insufficiently evaluated not reviewed unknown Array rs2617726 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF761 Val619Ile V619I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF763 Val113Ile V113I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF765 Lys381Arg K381R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF765 Ser389Gly S389G not reviewed Insufficiently evaluated not reviewed unknown Array rs10425136 8876 10758 0.82506 51 0 88 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF766 Cys95Tyr C95Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12462608 1105 10144 0.108931 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 0 N - - ZNF767 Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array rs1808231 36 128 0.28125 29 0 31 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF767 His89Arg H89R not reviewed Insufficiently evaluated not reviewed unknown Array rs2158692 36 118 0.305085 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF767 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 2 - 1 N - - ZNF768 Glu181Asp E181D not reviewed Insufficiently evaluated not reviewed unknown Array rs10871453 4435 10758 0.412251 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.6 - - -2 - 0 N - - ZNF77 Val186Ile V186I not reviewed Insufficiently evaluated not reviewed unknown Array rs73527668 63 10758 0.00585611 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.697 - - -4 - 1 N - - ZNF77 Cys144Phe C144F not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - ZNF77 Ile5Val I5V not reviewed Insufficiently evaluated not reviewed unknown Array rs12609268 1271 10758 0.118145 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF77 Cys3Ser C3S not reviewed Insufficiently evaluated not reviewed unknown Array rs12610412 1270 10758 0.118052 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF772 Met177Leu M177L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF772 Met218Leu M218L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074059 6779 10758 0.630136 48 0 71 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - ZNF772 Cys141Trp C141W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF772 Cys182Trp C182W not reviewed Insufficiently evaluated not reviewed unknown Array rs2074060 6763 10758 0.628648 48 0 71 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZNF772 Trp41Stop W41X not reviewed Insufficiently evaluated not reviewed unknown Array rs73067111 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF773 Ala97Glu A97E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731281 13 10758 0.0012084 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF773 Ala99Pro A99P not reviewed Insufficiently evaluated not reviewed unknown Array rs55823456 2336 10758 0.217141 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF773 Lys126Glu K126E not reviewed Insufficiently evaluated not reviewed unknown Array rs57321658 190 10756 0.0176646 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - ZNF774 Pro65Leu P65L not reviewed Insufficiently evaluated not reviewed unknown Array rs16944267 1140 10758 0.105968 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF774 Asn83His N83H not reviewed Insufficiently evaluated not reviewed unknown Array rs28678568 395 10758 0.0367169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF774 Asn83Ser N83S not reviewed Insufficiently evaluated not reviewed unknown Array rs2589957 6128 10758 0.569623 41 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF774 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array rs11854320 1423 10758 0.132274 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF775 Thr428Ala T428A not reviewed Insufficiently evaluated not reviewed unknown Array rs13225910 2926 8792 0.332803 9 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF777 Ala512Thr A512T not reviewed Insufficiently evaluated not reviewed unknown Array rs17852167 1082 9810 0.110296 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.082 - - 1 - 0 N - - ZNF777 Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - ZNF777 Val115Ala V115A not reviewed Insufficiently evaluated not reviewed unknown Array rs3735319 5490 9656 0.568558 46 0 62 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - ZNF777 Arg70Trp R70W not reviewed Insufficiently evaluated not reviewed unknown Array rs3735318 4952 9756 0.507585 37 0 48 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 1 N - - ZNF778 Lys164Thr K164T not reviewed Insufficiently evaluated not reviewed unknown Array rs28417933 7219 9862 0.732002 45 0 70 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF778 Val249Ile V249I not reviewed Insufficiently evaluated not reviewed unknown Array rs7201172 680 10318 0.0659042 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF778 Ala317Val A317V not reviewed Insufficiently evaluated not reviewed unknown Array rs72819401 298 10406 0.0286373 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF778 Thr422Ala T422A not reviewed Insufficiently evaluated not reviewed unknown Array rs74033443 821 10686 0.0768295 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF778 Ile534Thr I534T not reviewed Insufficiently evaluated not reviewed unknown Array rs28415940 8364 10688 0.78256 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF778 Gln553His Q553H not reviewed Insufficiently evaluated not reviewed unknown Array rs9921361 8287 10608 0.781203 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF778 Asn683Asp N683D not reviewed Insufficiently evaluated not reviewed unknown Array rs55974122 299 10576 0.0282716 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ZNF780A His597Arg H597R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF780A His598Arg H598R not reviewed Insufficiently evaluated not reviewed unknown Array 193 10756 0.0179435 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF780A Ile104Leu I104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - ZNF780A Ile105Leu I105L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF780B Glu111Lys E111K not reviewed Insufficiently evaluated not reviewed unknown Array rs73930688 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF781 Ile223Leu I223L not reviewed Insufficiently evaluated not reviewed unknown Array rs56281742 753 10758 0.0699944 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF781 Ser162Asn S162N not reviewed Insufficiently evaluated not reviewed unknown Array rs113316386 272 10758 0.0252835 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF781 Thr97Met T97M not reviewed Insufficiently evaluated not reviewed unknown Array 485 10758 0.0450827 4 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - ZNF782 Ser491Ala S491A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.698 - - -1 - 1 N - - ZNF782 His299Tyr H299Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.921 - - -1 - 2 N - - ZNF782 Thr289Ala T289A not reviewed Insufficiently evaluated not reviewed unknown Array rs35403084 364 10758 0.0338353 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.127 - - 1 - 0 N - - ZNF782 Tyr271Cys Y271C not reviewed Insufficiently evaluated not reviewed unknown Array rs35699142 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ZNF782 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array rs4645656 2172 10758 0.201896 24 0 31 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF782 Arg130Pro R130P not reviewed Insufficiently evaluated not reviewed unknown Array rs7870376 1548 10758 0.143893 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF784 Ala293Glu A293E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF784 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 15 7004 0.00214163 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - ZNF786 Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - ZNF787 Gly379Ala G379A not reviewed Insufficiently evaluated not reviewed unknown Array 4104 5162 0.795041 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF787 Asp363Glu D363E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF787 Val227Ala V227A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF789 Thr77Ala T77A not reviewed Insufficiently evaluated not reviewed unknown Array rs6962772 3940 10758 0.366239 36 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF79 Thr31Ile T31I not reviewed Insufficiently evaluated not reviewed unknown Array rs13292096 6542 10758 0.608106 50 0 69 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - ZNF79 Arg51Gly R51G not reviewed Insufficiently evaluated not reviewed unknown Array rs4504745 6572 10758 0.610894 51 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF790 Gln301Arg Q301R not reviewed Insufficiently evaluated not reviewed unknown Array rs3745775 2987 10758 0.277654 31 0 35 0 0 - - - - - - - - - - - - - - - - 0.056 - - 0 - 0 N - - ZNF790 Gln189His Q189H not reviewed Insufficiently evaluated not reviewed unknown Array rs34051375 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - -1 - 0 N - - ZNF792 Asn425Asp N425D not reviewed Insufficiently evaluated not reviewed unknown Array rs34687332 388 10758 0.0360662 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - ZNF792 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2651079 6440 10758 0.598624 51 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF793 Ile68Met I68M not reviewed Insufficiently evaluated not reviewed unknown Array rs12977460 656 9942 0.0659827 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 3 - - ZNF793 Arg340His R340H not reviewed Insufficiently evaluated not reviewed unknown Array rs45505797 513 10642 0.0482052 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.769 - - 1 - 1 N - - ZNF799 Leu252Pro L252P not reviewed Insufficiently evaluated not reviewed unknown Array rs4804669 9024 10750 0.839442 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF80 Asp253Ala D253A not reviewed Insufficiently evaluated not reviewed unknown Array rs3732782 7510 10758 0.698085 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF80 Tyr245Stop Y245X not reviewed Insufficiently evaluated not reviewed unknown Array rs3732781 2191 10758 0.203662 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF80 Arg201His R201H not reviewed Insufficiently evaluated not reviewed unknown Array rs6438191 7509 10758 0.697992 53 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF800 Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - ZNF804A Gln261Leu Q261L not reviewed Insufficiently evaluated not reviewed unknown Array rs12476147 6200 10756 0.576422 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF804A Asn327Thr N327T not reviewed Insufficiently evaluated not reviewed unknown Array rs61739291 216 10752 0.0200893 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF804A Asp479Gly D479G not reviewed Insufficiently evaluated not reviewed unknown Array rs35676856 659 10756 0.0612681 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF804A Ile492Val I492V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739290 657 10756 0.0610822 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF804A Glu542Lys E542K not reviewed Insufficiently evaluated not reviewed unknown Array rs4667001 4518 10628 0.425103 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF804A Gly545Ser G545S not reviewed Insufficiently evaluated not reviewed unknown Array rs4667002 8 128 0.0625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF804A Thr707Lys T707K not reviewed Insufficiently evaluated not reviewed unknown Array rs1366842 4536 10736 0.422504 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF804A His747Arg H747R not reviewed Insufficiently evaluated not reviewed unknown Array rs12477430 7353 10756 0.683618 54 0 79 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF804A Leu1081Val L1081V not reviewed Insufficiently evaluated not reviewed unknown Array rs3731834 1487 10758 0.138223 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF804B Cys248Tyr C248Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1916830 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF804B Phe634Ile F634I not reviewed Insufficiently evaluated not reviewed unknown Array rs801840 65 128 0.507812 38 0 58 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF804B Ser840Asn S840N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF804B Glu909Lys E909K not reviewed Insufficiently evaluated not reviewed unknown Array rs10487075 8 128 0.0625 9 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF804B Asn914His N914H not reviewed Insufficiently evaluated not reviewed unknown Array rs59859857 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF804B Thr915Ile T915I not reviewed Insufficiently evaluated not reviewed unknown Array rs56948780 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF804B Asn949Asp N949D not reviewed Insufficiently evaluated not reviewed unknown Array rs6962993 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF804B Leu955Val L955V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF804B Arg999Ser R999S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF804B Met1105Val M1105V not reviewed Insufficiently evaluated not reviewed unknown Array rs6963781 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF804B Val1195Ile V1195I not reviewed Insufficiently evaluated not reviewed unknown Array rs801841 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - ZNF805 Gly68Glu G68E not reviewed Insufficiently evaluated not reviewed unknown Array rs2014572 1507 3234 0.465986 3 0 5 0 0 3 Y - - - - - - - - - - - - Y - - - - 6 Y 1 N - - ZNF805 Gly81Asp G81D not reviewed Insufficiently evaluated not reviewed unknown Array rs3746231 1506 3234 0.465677 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF805 Val195Ile V195I not reviewed Insufficiently evaluated not reviewed unknown Array rs10421632 1503 3234 0.46475 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF805 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array rs10421632 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF808 Asp262Asn D262N not reviewed Insufficiently evaluated not reviewed unknown Array rs329965 2753 10758 0.255903 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF808 Ser437Asn S437N not reviewed Insufficiently evaluated not reviewed unknown Array rs61746334 917 10720 0.085541 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF808 Arg586Ser R586S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF808 Ile891Thr I891T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745968 165 10734 0.0153717 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF813 Ala62Thr A62T not reviewed Insufficiently evaluated not reviewed unknown Array rs2617667 2913 10700 0.272243 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ZNF813 Asp93Val D93V not reviewed Insufficiently evaluated not reviewed unknown Array rs12609217 13 10738 0.00121065 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 3 - 1 - - ZNF813 Ser146Leu S146L not reviewed Insufficiently evaluated not reviewed unknown Array rs35712939 2567 10752 0.238746 21 0 24 0 0 - - - - - - - - - - - - - - - - 0.07 - - 6 Y 0 N - - ZNF813 Ile168Phe I168F not reviewed Insufficiently evaluated not reviewed unknown Array rs12460628 722 10752 0.0671503 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - ZNF813 Tyr192Cys Y192C not reviewed Insufficiently evaluated not reviewed unknown Array rs3859494 1380 10662 0.129432 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - ZNF813 Arg231Lys R231K not reviewed Insufficiently evaluated not reviewed unknown Array rs10421308 699 10746 0.0650475 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - ZNF813 Tyr439Phe Y439F not reviewed Insufficiently evaluated not reviewed unknown Array rs10422163 1276 10682 0.119453 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - ZNF814 Ala337Val A337V not reviewed Insufficiently evaluated not reviewed unknown Array 858 3234 0.265306 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF814 Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF816A Glu590Gln E590Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF816A Arg329Ile R329I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF816A Arg329Gly R329G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF816A Gln220Stop Q220X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF816A Ser214Cys S214C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF816A Ala186Gly A186G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF816A Gly185Ser G185S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF816A Ser162Leu S162L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF816A Ile80Asn I80N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF816A Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF826 Cys148Tyr C148Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF826 Leu82Phe L82F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF826 Arg2Lys R2K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF827 Ala858Ser A858S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 2 N - - ZNF827 Arg857His R857H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF827 Cys856Trp C856W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF827 Pro274Gln P274Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ZNF828 Leu568Val L568V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ZNF829 Gln147Pro Q147P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.649 - - 4 Y 1 N - - ZNF83 His364Arg H364R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF83 His392Arg H392R not reviewed Insufficiently evaluated not reviewed unknown Array rs11545619 1231 10758 0.114426 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF83 Cys291Stop C291X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF83 Cys319Stop C319X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF83 Glu293Val E293V not reviewed Insufficiently evaluated not reviewed unknown Array rs78207921 9 102 0.0882353 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF83 Lys290Arg K290R not reviewed Insufficiently evaluated not reviewed unknown Array rs113015820 542 10756 0.0503905 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF83 Ser96Asn S96N not reviewed Insufficiently evaluated not reviewed unknown Array rs1056185 7224 10758 0.6715 52 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF83 Thr90Arg T90R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732591 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF830 His99Gln H99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs931196 9518 10758 0.884737 55 0 98 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF830 Ser154Thr S154T not reviewed Insufficiently evaluated not reviewed unknown Array rs3744355 817 10758 0.0759435 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF831 Lys629Arg K629R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743782 259 10166 0.0254771 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.117 - - -3 - 0 N - - ZNF831 Gly845Arg G845R not reviewed Insufficiently evaluated not reviewed unknown Array rs181984 1026 10152 0.101064 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 1 N - - ZNF831 Ala890Val A890V not reviewed Insufficiently evaluated not reviewed unknown Array rs56057707 1507 9986 0.150911 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF831 Leu1022Phe L1022F not reviewed Insufficiently evaluated not reviewed unknown Array rs55786258 1431 10038 0.142558 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.275 - - 0 - 0 N - - ZNF831 Thr1234Ser T1234S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10032 0.00538277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -2 - 2 N - - ZNF831 Thr1377Ala T1377A not reviewed Insufficiently evaluated not reviewed unknown Array 58 9958 0.00582446 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.12 - - 1 - 0 N - - ZNF831 Ser1513Pro S1513P not reviewed Insufficiently evaluated not reviewed unknown Array rs259956 4967 10476 0.474131 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF835 Gln179His Q179H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 0 N - - ZNF835 Glu110Ala E110A not reviewed Insufficiently evaluated not reviewed unknown Array rs12460400 36 88 0.409091 24 0 29 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZNF835 Glu51Lys E51K not reviewed Insufficiently evaluated not reviewed unknown Array rs12462469 55 126 0.436508 42 0 48 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF836 Asn809Ser N809S not reviewed Insufficiently evaluated not reviewed unknown Array rs8113504 34 128 0.265625 24 0 28 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 1 N - - ZNF836 Met219Ile M219I not reviewed Insufficiently evaluated not reviewed unknown Array rs1366245 54 128 0.421875 38 0 49 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF837 Tyr347Cys Y347C not reviewed Insufficiently evaluated not reviewed unknown Array 170 2704 0.0628698 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF837 Ala242Thr A242T not reviewed Insufficiently evaluated not reviewed unknown Array rs7255596 2890 3070 0.941368 12 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF837 Gln153Arg Q153R not reviewed Insufficiently evaluated not reviewed unknown Array rs7256940 269 3234 0.0831787 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.761 - - 0 - 0 N - - ZNF839 Leu118Pro L118P not reviewed Insufficiently evaluated not reviewed unknown Array rs7158731 3086 9860 0.312982 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF839 Asp200Asn D200N not reviewed Insufficiently evaluated not reviewed unknown Array rs7158139 3037 9714 0.312642 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF839 Ala430Thr A430T not reviewed Insufficiently evaluated not reviewed unknown Array rs1543540 747 10088 0.0740484 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF839 Pro712Leu P712L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF839 Val809Met V809M not reviewed Insufficiently evaluated not reviewed unknown Array rs28646161 479 10092 0.0474633 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF84 Lys550Arg K550R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735099 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.982 - - -3 - 2 N - - ZNF841 Thr905Pro T905P not reviewed Insufficiently evaluated not reviewed unknown Array 184 3234 0.0568955 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF841 Ser693Asn S693N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF841 Val141Leu V141L not reviewed Insufficiently evaluated not reviewed unknown Array rs16983412 446 3234 0.13791 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF843 Pro128Leu P128L not reviewed Insufficiently evaluated not reviewed unknown Array rs74015530 134 3234 0.0414348 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF844 Lys226Glu K226E not reviewed Insufficiently evaluated not reviewed unknown Array rs7259684 459 3234 0.141929 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF844 Asn266Ser N266S not reviewed Insufficiently evaluated not reviewed unknown Array rs76842919 139 3234 0.0429808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF844 Thr276Ala T276A not reviewed Insufficiently evaluated not reviewed unknown Array rs7259845 788 3234 0.243661 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF844 Ala308Pro A308P not reviewed Insufficiently evaluated not reviewed unknown Array rs6511763 788 3234 0.243661 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF844 Met522Val M522V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF844 Ile642Met I642M not reviewed Insufficiently evaluated not reviewed unknown Array rs10426017 788 3234 0.243661 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF844 Val658Ile V658I not reviewed Insufficiently evaluated not reviewed unknown Array 82 3234 0.0253556 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - ZNF845 Glu157Gln E157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10415799 1114 3234 0.344465 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF845 Lys437Asn K437N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF845 Arg619Cys R619C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF845 Glu807Asp E807D not reviewed Insufficiently evaluated not reviewed unknown Array rs55874600 1112 3234 0.343847 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF846 Tyr492Cys Y492C not reviewed Insufficiently evaluated not reviewed unknown Array rs10420364 2697 10620 0.253955 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF846 Arg461Pro R461P not reviewed Insufficiently evaluated not reviewed unknown Array rs56872664 291 10604 0.0274425 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 5 Y 2 N - - ZNF846 Cys450Tyr C450Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10414485 2715 10598 0.25618 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF846 His356Leu H356L not reviewed Insufficiently evaluated not reviewed unknown Array 65 10600 0.00613208 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ZNF846 Arg330Pro R330P not reviewed Insufficiently evaluated not reviewed unknown Array rs60387559 213 10684 0.0199364 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ZNF85 Thr46Ala T46A not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF85 Thr46Ile T46I not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF85 Gln84Arg Q84R not reviewed Insufficiently evaluated not reviewed unknown Array rs56321708 1262 10754 0.117352 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF85 Arg115Ile R115I not reviewed Insufficiently evaluated not reviewed unknown Array rs56231962 1150 10756 0.106917 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF85 Thr139Ile T139I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734279 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ZNF85 Thr177Arg T177R not reviewed Insufficiently evaluated not reviewed unknown Array rs56393308 1257 10750 0.11693 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF85 Gly184Arg G184R not reviewed Insufficiently evaluated not reviewed unknown Array rs11665978 1258 10748 0.117045 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF85 Phe270Ser F270S not reviewed Insufficiently evaluated not reviewed unknown Array rs11670246 1238 10714 0.11555 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF853 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array rs2243563 1957 3234 0.605133 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF853 Gln30Arg Q30R not reviewed Insufficiently evaluated not reviewed unknown Array rs1806552 2017 3234 0.623686 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF860 Arg143Stop R143X not reviewed Insufficiently evaluated not reviewed unknown Array 177 3234 0.054731 1 0 1 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF860 Glu348Asp E348D not reviewed Insufficiently evaluated not reviewed unknown Array rs13064905 958 3234 0.296228 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF860 Phe351Leu F351L not reviewed Insufficiently evaluated not reviewed unknown Array rs13087612 936 3234 0.289425 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF860 Thr358Ala T358A not reviewed Insufficiently evaluated not reviewed unknown Array rs13065048 957 3234 0.295918 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF860 Val442Ile V442I not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF860 His464Arg H464R not reviewed Insufficiently evaluated not reviewed unknown Array rs1808125 626 3124 0.200384 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF860 Arg609Leu R609L not reviewed Insufficiently evaluated not reviewed unknown Array rs4955216 957 3234 0.295918 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF862 Arg56Cys R56C not reviewed Insufficiently evaluated not reviewed unknown Array rs62621204 1449 9970 0.145336 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF862 Glu123Lys E123K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9868 0.000101337 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - ZNF862 Ile178Thr I178T not reviewed Insufficiently evaluated not reviewed unknown Array rs3735328 3 10300 0.000291262 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 3 - 2 - - ZNF862 Val640Met V640M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10330 0.00019361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - ZNF862 Leu831Arg L831R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - ZNF862 Ala895Thr A895T not reviewed Insufficiently evaluated not reviewed unknown Array rs58661955 271 10340 0.0262089 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF90 Val125Gly V125G not reviewed Insufficiently evaluated not reviewed unknown Array 199 3234 0.0615337 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 0 N - - ZNF90 Lys193Arg K193R not reviewed Insufficiently evaluated not reviewed unknown Array 248 3234 0.0766852 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 1 N - - ZNF90 Ser269Phe S269F not reviewed Insufficiently evaluated not reviewed unknown Array 158 3234 0.0488559 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF90 Gly375Ser G375S not reviewed Insufficiently evaluated not reviewed unknown Array 330 3234 0.102041 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF91 Leu1164Pro L1164P not reviewed Insufficiently evaluated not reviewed unknown Array 76 10298 0.00738007 1 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF91 Leu1164Val L1164V not reviewed Insufficiently evaluated not reviewed unknown Array rs385750 73 10306 0.00708325 2 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF91 Lys985Glu K985E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF91 Thr896Ala T896A not reviewed Insufficiently evaluated not reviewed unknown Array rs296093 985 10702 0.0920389 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF91 Pro881Leu P881L not reviewed Insufficiently evaluated not reviewed unknown Array rs73565028 58 10664 0.00543886 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF91 Ala386Thr A386T not reviewed Insufficiently evaluated not reviewed unknown Array rs403356 349 10306 0.0338638 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF91 Tyr112His Y112H not reviewed Insufficiently evaluated not reviewed unknown Array rs296091 928 10292 0.0901671 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF91 His89Asp H89D not reviewed Insufficiently evaluated not reviewed unknown Array 387 9642 0.0401369 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF91 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array 701 10758 0.0651608 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF92 Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array rs10265083 2873 10758 0.267057 29 0 35 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - ZNF92 Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array rs10265083 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF92 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array rs10239197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF92 Arg527His R527H not reviewed Insufficiently evaluated not reviewed unknown Array rs10239197 3029 10758 0.281558 29 0 36 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF93 Asp93Tyr D93Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12151060 1577 10756 0.146616 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 1 N - - ZNF93 Ser269Phe S269F not reviewed Insufficiently evaluated not reviewed unknown Array 305 10750 0.0283721 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - 5 Y 2 N - - ZNF93 Ala349Val A349V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF93 Ile502Asn I502N not reviewed Insufficiently evaluated not reviewed unknown Array 73 10518 0.00694048 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 7 Y 2 N - - ZNF98 Asn500Ser N500S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF98 Val482Ile V482I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF98 Lys479Thr K479T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF98 Ser478Thr S478T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF98 Asn472Ser N472S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF98 Thr457Ala T457A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF98 Lys235Glu K235E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF99 Thr1008Pro T1008P not reviewed Insufficiently evaluated not reviewed unknown Array rs55681804 13 106 0.122642 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF99 Gly1006Glu G1006E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF99 Gly1005Val G1005V not reviewed Insufficiently evaluated not reviewed unknown Array rs71357933 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ZNF99 Glu984Gly E984G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 6 Y 2 N - - ZNF99 Arg949Cys R949C not reviewed Insufficiently evaluated not reviewed unknown Array rs56115674 10 106 0.0943396 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - ZNF99 Lys905Asn K905N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - ZNF99 Phe900Ser F900S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 5 Y 2 N - - ZNF99 Gly896Ala G896A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - ZNF99 Lys877Asn K877N not reviewed Insufficiently evaluated not reviewed unknown Array rs62119149 7 110 0.0636364 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - ZNF99 Glu717Lys E717K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ZNF99 Thr712Ala T712A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.221 - - 1 - 1 N - - ZNF99 Ser710Phe S710F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.801 - - 5 Y 1 N - - ZNF99 Asn708Ser N708S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF99 Lys416Ile K416I not reviewed Insufficiently evaluated not reviewed unknown Array rs11667397 25 126 0.198413 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.298 - - 6 Y 0 N - - ZNF99 Lys325Thr K325T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - ZNF99 Cys283Ser C283S not reviewed Insufficiently evaluated not reviewed unknown Array rs62119159 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 1 N - - ZNF99 Glu274Gly E274G not reviewed Insufficiently evaluated not reviewed unknown Array rs58653025 26 118 0.220339 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF99 Ala150Gly A150G not reviewed Insufficiently evaluated not reviewed unknown Array rs7255780 55 126 0.436508 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF99 His147Tyr H147Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61740110 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 1 N - - ZNF99 Trp28Arg W28R not reviewed Insufficiently evaluated not reviewed unknown Array rs34726149 28 122 0.229508 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZNFX1 Thr1351Ile T1351I not reviewed Insufficiently evaluated not reviewed unknown Array rs238209 7419 10758 0.689626 46 0 69 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNFX1 Gly1297Ser G1297S not reviewed Insufficiently evaluated not reviewed unknown Array rs36068952 732 10758 0.0680424 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNFX1 Met1259Ile M1259I not reviewed Insufficiently evaluated not reviewed unknown Array rs6512577 2202 10758 0.204685 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - ZNFX1 Gln924His Q924H not reviewed Insufficiently evaluated not reviewed unknown Array rs238221 7423 10758 0.689998 46 0 69 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - ZNRF4 Pro37Ser P37S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240743 4570 10238 0.446376 39 0 53 0 0 - - - - - - - - - - - - - - - - 0.402 - - 3 - 0 N - - ZNRF4 Arg78Gln R78Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2240744 1474 10282 0.143357 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNRF4 Val100Ile V100I not reviewed Insufficiently evaluated not reviewed unknown Array rs2240745 466 10448 0.0446018 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.36 - - -4 - 1 N - - ZNRF4 Ala157Ser A157S not reviewed Insufficiently evaluated not reviewed unknown Array rs8103406 4708 10446 0.450699 41 0 56 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - ZNRF4 Val159Ala V159A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740902 4622 10460 0.441874 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNRF4 Arg163Cys R163C not reviewed Insufficiently evaluated not reviewed unknown Array rs8104246 468 10506 0.044546 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 3 - 3 - - ZNRF4 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array rs17304380 1331 10526 0.126449 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 1 N - - ZP1 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array rs489172 8926 10758 0.829708 55 0 85 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - ZP1 Thr320Met T320M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - ZP2 Trp73Leu W73L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 5 Y 2 - 1 - - ZP2 Gly36Val G36V not reviewed Insufficiently evaluated not reviewed unknown Array rs2075520 4181 10758 0.388641 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZP3 Gly31Arg G31R not reviewed Insufficiently evaluated not reviewed unknown Array rs2286428 632 3232 0.195545 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZP3 Ser264Pro S264P not reviewed Insufficiently evaluated not reviewed unknown Array rs2906999 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZP3 Ser315Pro S315P not reviewed Insufficiently evaluated not reviewed unknown Array rs2906999 5671 10758 0.527143 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZP3 Met289Val M289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - ZP3 Met340Val M340V not reviewed Insufficiently evaluated not reviewed unknown Array 1033 10758 0.0960216 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - ZP3 Arg294Thr R294T not reviewed Insufficiently evaluated not reviewed unknown Array rs1804905 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZP3 Arg345Thr R345T not reviewed Insufficiently evaluated not reviewed unknown Array rs1804905 2576 10758 0.23945 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZP3 His302Arg H302R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZP3 His353Arg H353R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZP3 Glu326Gly E326G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZP3 Glu377Gly E377G not reviewed Insufficiently evaluated not reviewed unknown Array 305 10708 0.0284834 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZPBP2 Ala118Thr A118T not reviewed Insufficiently evaluated not reviewed unknown Array rs35829084 321 10750 0.0298605 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - ZPBP2 Ala96Thr A96T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ZPBP2 Ser151Ile S151I not reviewed Insufficiently evaluated not reviewed unknown Array rs11557467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZPBP2 Ser173Ile S173I not reviewed Insufficiently evaluated not reviewed unknown Array rs11557467 4644 10758 0.431679 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.688 - - 5 Y 0 N - - ZPBP2 Gln313Glu Q313E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - ZPBP2 Gln335Glu Q335E not reviewed Insufficiently evaluated not reviewed unknown Array rs35302660 492 10758 0.0457334 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - ZPLD1 Ile28Phe I28F not reviewed Insufficiently evaluated not reviewed unknown Array rs6784362 1420 10758 0.131995 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZPLD1 Asn45Ser N45S not reviewed Insufficiently evaluated not reviewed unknown Array rs6784389 1420 10758 0.131995 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZPLD1 Thr213Ala T213A not reviewed Insufficiently evaluated not reviewed unknown Array rs12054046 1416 10756 0.131647 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - ZRANB2 Arg207Gly R207G not reviewed Insufficiently evaluated not reviewed unknown Array rs11583800 780 10758 0.0725042 3 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZRANB3 Asp673Tyr D673Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.406 - - 7 Y 1 N - - ZRANB3 Glu637Val E637V not reviewed Insufficiently evaluated not reviewed unknown Array rs59900519 1718 9940 0.172837 22 0 24 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZRANB3 Arg601Gln R601Q not reviewed Insufficiently evaluated not reviewed unknown Array 131 9966 0.0131447 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ZRANB3 Glu541Lys E541K not reviewed Insufficiently evaluated not reviewed unknown Array rs935615 1594 9560 0.166736 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZSCAN10 Pro224Leu P224L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 7 Y 1 N - - ZSCAN12 Asn392Asp N392D not reviewed Insufficiently evaluated not reviewed unknown Array 189 3234 0.0584416 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZSCAN12 Ala371Ser A371S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZSCAN12 Arg294Lys R294K not reviewed Insufficiently evaluated not reviewed unknown Array 225 3234 0.0695733 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZSCAN12 Met11Thr M11T not reviewed Insufficiently evaluated not reviewed unknown Array 272 3234 0.0841064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZSCAN18 Gly243Glu G243E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZSCAN18 Gly379Glu G379E not reviewed Insufficiently evaluated not reviewed unknown Array rs2258557 16 122 0.131148 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZSCAN18 Gly435Glu G435E not reviewed Insufficiently evaluated not reviewed unknown Array 1471 10746 0.136888 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZSCAN18 Ala159Asp A159D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZSCAN18 Ala295Asp A295D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 5 Y 0 N - - ZSCAN18 Ala351Asp A351D not reviewed Insufficiently evaluated not reviewed unknown Array 37 7836 0.0047218 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZSCAN2 Val140Phe V140F not reviewed Insufficiently evaluated not reviewed unknown Array rs2271433 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZSCAN2 Ser191Thr S191T not reviewed Insufficiently evaluated not reviewed unknown Array rs2044502 9324 10758 0.866704 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZSCAN20 Lys35Arg K35R not reviewed Insufficiently evaluated not reviewed unknown Array rs41265901 389 9842 0.0395245 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZSCAN20 Tyr432Asp Y432D not reviewed Insufficiently evaluated not reviewed unknown Array rs4403594 9890 9912 0.99778 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZSCAN22 Leu250Val L250V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740189 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZSCAN22 Ala321Val A321V not reviewed Insufficiently evaluated not reviewed unknown Array rs60710360 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - ZSCAN23 Arg232Pro R232P not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZSCAN23 Glu159Val E159V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - ZSCAN23 Thr121Ser T121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - -2 - 1 N - - ZSCAN23 Arg112His R112H not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - ZSCAN29 Glu232Gln E232Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73401911 327 10758 0.030396 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.161 - - -2 - 0 N - - ZSCAN29 Gly199Ser G199S not reviewed Insufficiently evaluated not reviewed unknown Array rs12912744 2069 10758 0.192322 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZSCAN29 Arg104Gly R104G not reviewed Insufficiently evaluated not reviewed unknown Array rs3809482 5333 10758 0.495724 43 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZSCAN4 Ser371Arg S371R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - ZSCAN5A Pro354Leu P354L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - ZSCAN5A Gly337Val G337V not reviewed Insufficiently evaluated not reviewed unknown Array rs34187696 2318 10758 0.215468 21 0 22 0 0 - - - - - - - - - - - - - - - - 0.881 - - 8 Y 1 N - - ZSCAN5B Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array rs4801296 5102 10758 0.474252 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - ZSCAN5B Pro187Ser P187S not reviewed Insufficiently evaluated not reviewed unknown Array rs527025 3003 10758 0.279141 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 1 N - - ZSCAN5B Pro29Ser P29S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZSCAN5B Gly19Glu G19E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZSWIM1 Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3746500 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - ZSWIM2 Met544Val M544V not reviewed Insufficiently evaluated not reviewed unknown Array rs17856918 2292 10756 0.21309 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZSWIM2 Phe537Tyr F537Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10195632 2302 10758 0.21398 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZSWIM2 Asp486Glu D486E not reviewed Insufficiently evaluated not reviewed unknown Array rs10195758 2275 10752 0.211589 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZSWIM2 Leu375Val L375V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZSWIM2 Ile302Thr I302T not reviewed Insufficiently evaluated not reviewed unknown Array rs10164815 2274 10740 0.211732 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZSWIM2 Cys265Tyr C265Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6434197 2306 10758 0.214352 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZSWIM2 Leu226Met L226M not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZSWIM3 Val259Ala V259A not reviewed Insufficiently evaluated not reviewed unknown Array rs2903808 6031 10758 0.560606 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZSWIM3 Arg291Trp R291W not reviewed Insufficiently evaluated not reviewed unknown Array rs35928298 174 10758 0.016174 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 3 - 3 - - ZSWIM4 Arg127His R127H not reviewed Insufficiently evaluated not reviewed unknown Array rs73511513 289 10756 0.0268687 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZSWIM4 Ala277Val A277V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - ZSWIM4 Met616Val M616V not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - ZSWIM4 Thr629Met T629M not reviewed Insufficiently evaluated not reviewed unknown Array rs62620757 1087 10758 0.101041 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 1 N - - ZSWIM4 Asn710His N710H not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 1 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - ZUFSP Asn379Asp N379D not reviewed Insufficiently evaluated not reviewed unknown Array rs4946188 3751 10758 0.348671 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZUFSP His298Gln H298Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73555467 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - ZW10 Gln532Arg Q532R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ZW10 Lys170Asn K170N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.609 - - 1 - 1 N - - ZWILCH Leu17Phe L17F not reviewed Insufficiently evaluated not reviewed unknown Array rs11551829 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 1 N - - ZWILCH Ser344Gly S344G not reviewed Insufficiently evaluated not reviewed unknown Array rs11071896 2084 10758 0.193716 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZWILCH Ile535Met I535M not reviewed Insufficiently evaluated not reviewed unknown Array 870 10758 0.08087 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.225 - - -1 - 0 N - - ZWINT Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZWINT Arg245Gln R245Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.894 - - 0 - 3 - 1 - - ZWINT Arg187Gly R187G not reviewed Insufficiently evaluated not reviewed unknown Array rs2241666 7242 10758 0.673173 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZWINT Ala4Ser A4S not reviewed Insufficiently evaluated not reviewed unknown Array rs11005328 903 10758 0.0839375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZXDA Thr732Ala T732A not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ZXDA Gly376Ser G376S not reviewed Insufficiently evaluated not reviewed unknown Array 20 8761 0.00228284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - ZXDA Ala36Val A36V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 1 - 1 - - ZXDB Asp52Gly D52G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 2 - 1 - - ZXDC Pro562Leu P562L not reviewed Insufficiently evaluated not reviewed unknown Array rs16837497 223 10110 0.0220574 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 7 Y 3 - 3 - - ZXDC Pro118Ala P118A not reviewed Insufficiently evaluated not reviewed unknown Array 1950 1978 0.985844 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZXDC Ala53Glu A53E not reviewed Insufficiently evaluated not reviewed unknown Array 61 2992 0.0203877 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ZYG11A Glu76Asp E76D not reviewed Insufficiently evaluated not reviewed unknown Array rs480299 2191 3234 0.677489 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZYG11B Leu44Met L44M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - -3 - 0 N - - ZYX His223Leu H223L not reviewed Insufficiently evaluated not reviewed unknown Array rs11978404 1532 10758 0.142406 16 0 22 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 1 N - - ZYX Glu327Val E327V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ZYX Arg489Trp R489W not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - ZZEF1 Ala2421Thr A2421T not reviewed Insufficiently evaluated not reviewed unknown Array rs781861 930 10758 0.0864473 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZZEF1 Glu2369Gln E2369Q not reviewed Insufficiently evaluated not reviewed unknown Array rs711177 1380 10758 0.128277 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZZEF1 Pro2051Ser P2051S not reviewed Insufficiently evaluated not reviewed unknown Array rs1006954 1460 10758 0.135713 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZZEF1 Ile2014Val I2014V not reviewed Insufficiently evaluated not reviewed unknown Array rs781831 5728 10758 0.532441 43 0 70 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZZEF1 Leu1972Pro L1972P not reviewed Insufficiently evaluated not reviewed unknown Array rs781852 5584 10758 0.519056 39 0 62 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZZEF1 Ser1437Ala S1437A not reviewed Insufficiently evaluated not reviewed unknown Array rs4790555 26 10754 0.00241771 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - ZZEF1 Val30Ala V30A not reviewed Insufficiently evaluated not reviewed unknown Array rs1454121 5850 7424 0.787985 9 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZZZ3 Met346Lys M346K not reviewed Insufficiently evaluated not reviewed unknown Array rs41292270 222 10758 0.0206358 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - LPA Ile4399Met I4399M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - Replicated variant strongly associated with an increase in Lp(a) lipoprotein levels, associated with risk of coronary disease (rs3798220; OR1.92 (95% CI, 1.48 to 2.49) in one report). Our system processes this position differently (as I1891M); this discrepancy is due to a highly variable number of kringle repeats in the protein (2-43), our version uses an assembly with 15 copies. TRPV4 Arg316Cys R316C pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.994 Y - 8 Y 4 - 10 - - Found to co-segregate with scapuloperoneal spinal muscular atrophy (SPSMA) in a large pedigree from a New England family of French-Canadian origin; absent in SNP databases and in over 600 controls. Thought to increase calcium channel activity. TRPV4 Arg269His R269H pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 2 - - - - - - - - - - - - Y - - - 0.037 Y - 1 - 2 - 10 - - Found to co-segregate with Charcot-Marie-Tooth disease type 2C (CMT2C), also known as hereditary motor and sensory neuropathy type IIC (HMSN IIC, HMSN2C), in a large pedigree from an American family of English and Scottish descent; not found in SNP databases or in 700 controls. TRPV4 Arg315Trp R315W pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.994 Y - 7 Y 4 - 10 - - Found in affected individuals in several families with hereditary motor and sensory neuropathy 2C (HMSN2C, MIM %606071), not found in healthy European controls. TRPV4 Arg269Cys R269C pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - 0.076 Y - 8 Y 2 - 10 - - Found in individuals in one family with Charcot-Marie-Tooth disease type 2C (CMT2C), also known as hereditary motor and sensory neuropathy type IIC (HMSN IIC, HMSN2C). A2M Arg681His R681H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - A2M Cys972Tyr C972Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - A2M Val1000Ile V1000I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - A4GALT Gly187Asp G187D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 4 Y 4 N - - A4GALT Met183Lys M183K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 4 Y 4 N - - A4GALT Pro251Leu P251L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10730 9.3196e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - A4GALT Trp261Stop W261X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AAAS Arg312Stop R312X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - AAAS Arg478Stop R478X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AAAS Gln15Lys Q15K pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.135 Y - -2 - 3 N 10 - - AAAS Leu430Phe L430F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.303 Y - 0 - 4 N 8 - - AAAS Ser263Pro S263P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 10 - - AACT Leu55Pro L55P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - AACT Met389Val M389V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - AACT Pro229Ala P229A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - AANAT Ala129Thr A129T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - ABAT Arg220Lys R220K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.677 Y - -3 - 4 N 2 - - ABCA1 Ala877Val A877V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - ABCA1 Arg1680Trp R1680W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - ABCA1 Arg2021Trp R2021W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - ABCA1 Asn875Ser N875S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - ABCA1 Asn935His N935H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - ABCA1 Asn935Ser N935S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - ABCA1 Asp1099Tyr D1099Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - ABCA1 Asp1229Asn D1229N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 3 - - ABCA1 Cys1417Arg C1417R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - ABCA1 Gln537Arg Q537R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - ABCA1 Phe2009Ser F2009S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 9 - - ABCA1 Ser1446Leu S1446L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - ABCA1 Trp530Ser W530S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 7 - - ABCA1 Tyr573Stop Y573X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ABCA12 Arg1514His R1514H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 2 - - ABCA12 Arg2203Stop R2203X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ABCA12 Asn1380Ser N1380S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 4 - - ABCA12 Asp2363Asn D2363N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - ABCA12 Glu1539Lys E1539K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 0 - 6 N 4 - - ABCA12 Gly1179Arg G1179R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 1 - - ABCA12 Gly1381Glu G1381E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 4 - - ABCA12 Gly1651Ser G1651S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 2 - 6 N 2 - - ABCA3 Asn568Asp N568D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 10 - - ABCA3 Gln1591Pro Q1591P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 4 Y 5 N 10 - - ABCA3 Leu101Pro L101P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.36 Y - 7 Y 4 N 10 - - ABCA3 Leu326Pro L326P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y - 7 Y 5 N 2 - - ABCA3 Leu1553Pro L1553P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 7 Y 5 N 10 - - ABCA3 Trp1142Stop W1142X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - ABCA4 Ala1028Val A1028V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.418 Y - 2 - 4 N 4 - - ABCA4 Ala1038Val A1038V pathogenic Insufficiently evaluated pathogenic unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 2 - 5 N 10 - - ABCA4 Ala1762Asp A1762D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.588 Y - 5 Y 4 N 4 - - ABCA4 Arg18Trp R18W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 8 - - ABCA4 Arg212Cys R212C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - ABCA4 Arg2030Stop R2030X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - ABCA4 Asp2177Asn D2177N pathogenic Insufficiently evaluated pathogenic unknown Array rs1800555 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y - -1 - 3 N 10 - - ABCA4 Glu1036Lys E1036K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 4 - - ABCA4 Gly1961Glu G1961E pathogenic High clinical importance, Likely pathogenic recessive Array rs1800553 29 10758 0.00269567 1 0 1 5 5 2 Y - - 5 - 0 Y 4 - 2 - Y Y - - 0.995 Y - 6 Y Stargardt Disease, Autosomal Recessive 50 538 2 878 40.799 5 N 10 2 1 This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis. ABCA4 Leu1940Pro L1940P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.956 Y - 7 Y 5 N 10 - - ABCA4 Leu1970Phe L1970F benign Low clinical importance, Likely benign recessive Array 44 10758 0.00408998 0 0 0 0 0 - - - - 5 Y 0 - - - - - Y Y - - 0.98 Y - 0 - 5 N 10 0 1 Reported to cause Stargardt disease in a recessive manner, causing juvenile macular degeneration and vision loss. This effect is recorded in ClinVar by OMIM, and comes from Rozet et al 1998 (PMID: 9781034), who reported seeing this variant compound heterozygous in a patient from of 55 affected families. However, in ExAC data, this variant has an allele frequency of 0.42% of European ancestry – which means 1 in 118 individuals are carriers. An observation of 1 in 55 is likely a chance observation; a causal variant should be more significantly enriched in patients. In contrast, Rivera et al 2000 (PMID: 10958763) reported no enrichment for this variant in patients. (c.f. ABCA4 Ala1038Val, which ExAC reports 0.42% frequency in Europeans, had an allele frequency of 9% in Rivera et al's patients.) ABCA4 Leu1971Arg L1971R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 6 Y 5 N 5 - - ABCA4 Leu2027Phe L2027F pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 10 - - ABCA4 Pro1380Leu P1380L pathogenic High clinical importance, pathogenic recessive Array 2 10758 0.000185908 0 0 0 2 2 3 - 0 - 5 Y 1 - 4 - 1 - Y Y - - 0.986 Y - 7 Y 5 N 10 2 2 Reported to cause Stargardt Disease in a recessive manner, leading to progressive vision lose and eventual blindness. Speculated to be associated with age-related macular degeneration. ABCA4 Pro1780Ala P1780A pathogenic High clinical importance, Uncertain pathogenic recessive Array 4 10758 0.000371816 1 0 1 1 1 2 Y - - 0 Y 0 Y 4 Y 1 - Y Y - - 0.999 Y - 2 - 5 N 2 2 0 Reported to have caused Stargardt disease (progressive vision loss and blindness) in a recessive manner when seen in a single compound heterozygous case, but insufficient data makes it impossible to determine the significance of this report. ABCA4 Trp855Stop W855X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - ABCA4 Tyr340Asp Y340D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 6 - - ABCA4 Val2050Leu V2050L pathogenic High clinical importance, Uncertain pathogenic recessive Array rs41292677 40 10758 0.00371816 1 0 1 2 2 2 Y - - 0 Y 0 Y 4 - 1 - Y Y - - 0.993 Y - 0 - 5 N 10 2 0 Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner. ABCB1 Gly185Val G185V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - ABCB11 Arg432Thr R432T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - ABCB11 Arg575Stop R575X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ABCB11 Arg1057Stop R1057X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ABCB11 Glu297Gly E297G pathogenic Insufficiently evaluated pathogenic unknown Array 2 9778 0.00020454 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - ABCB4 Ala546Asp A546D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 6 - - ABCB4 Arg957Stop R957X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ABCB4 Pro1161Ser P1161S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - ABCB4 Ser320Phe S320F pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.83 Y - 5 Y 4 N 10 - - ABCB4 Thr175Val T175V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 3 - - ABCB4 Tyr403His Y403H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 2 - - ABCB7 Glu433Lys E433K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 0 - 6 N 8 - - ABCB7 Ile400Met I400M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.905 Y Y -1 - 6 N 10 - - ABCB7 Val411Leu V411L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.939 Y Y 0 - 6 N 10 - - ABCC2 Arg768Trp R768W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - ABCC2 Arg1150His R1150H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - ABCC2 Gln1382Arg Q1382R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - ABCC2 Ile1173Phe I1173F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 10 - - ABCC6 Arg1114Pro R1114P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 9 - - ABCC6 Arg1138Gln R1138Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ABCC6 Arg1138Trp R1138W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - ABCC6 Arg1141Stop R1141X pathogenic Insufficiently evaluated pathogenic unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ABCC6 Arg1164Stop R1164X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ABCC6 Arg1314Trp R1314W pathogenic Insufficiently evaluated pathogenic unknown Array 3 10722 0.000279798 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - ABCC6 Arg1339Cys R1339C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - ABCC6 Arg1459Cys R1459C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - ABCC6 Asp1238His D1238H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - ABCC6 Gly1302Arg G1302R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - ABCC6 Gly1321Ser G1321S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - ABCC6 Thr1130Met T1130M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - ABCC6 Val1298Phe V1298F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 9 - - ABCC8 Ala1185Glu A1185E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - ABCC8 Arg1353His R1353H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - ABCC8 Arg1353Pro R1353P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - ABCC8 Arg1379Cys R1379C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - ABCC8 Arg1421Cys R1421C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - ABCC8 Arg1494Trp R1494W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - ABCC8 Asn72Ser N72S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ABCC8 Glu382Lys E382K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - ABCC8 Glu1506Lys E1506K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ABCC8 Gly716Val G716V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - ABCC8 Gly1401Arg G1401R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - ABCC8 Ile1424Val I1424V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - ABCC8 Leu213Arg L213R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - ABCC8 Leu582Val L582V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - ABCC8 Phe132Leu F132L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ABCC8 Val187Asp V187D pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 8 Y 5 N 10 - - This variant is implicated in Neonatal Diabetes Mellitus. ABCC9 Ala1513Thr A1513T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y Y 1 - 6 N 3 - - ABCD1 Arg389Gly R389G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 1 - - ABCD1 Arg401Gln R401Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 9 - - ABCD1 Arg418Trp R418W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - ABCD1 Arg464Stop R464X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ABCD1 Arg518Trp R518W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - ABCD1 Arg617Cys R617C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - ABCD1 Arg617His R617H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - ABCD1 Asn148Ser N148S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 1 - - ABCD1 Glu291Lys E291K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - ABCD1 Glu477Stop E477X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ABCD1 Gly266Arg G266R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 9 - - ABCD1 Pro484Arg P484R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 9 - - ABCD1 Ser515Phe S515F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 2 - - ABCD1 Ser606Leu S606L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 6 Y 6 N 10 - - ABCD1 Tyr174Asp Y174D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N - - ABCD3 Gly17Asp G17D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.824 Y Y 4 Y 5 N - - ABCG5 Arg243Stop R243X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - ABCG5 Arg389His R389H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 5 - - ABCG5 Arg408Stop R408X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - ABCG5 Arg419His R419H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 9 - - ABCG5 Arg419Pro R419P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 4 - - ABCG5 Glu77Stop E77X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - ABCG8 Arg263Gln R263Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.915 Y - 0 - 5 N 3 - - ABCG8 Arg412Stop R412X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ABCG8 Asp19His D19H pathogenic Insufficiently evaluated pathogenic other Array rs11887534 531 9216 0.0576172 10 0 11 4 4 - - - - - - - - - - - - Y Y Y Y - Y - 3 - 3 N 10 - - ABCG8 Gly574Arg G574R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.87 Y - 6 Y 5 N 8 - - ABCG8 Leu596Arg L596R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.935 Y - 6 Y 5 N 2 - - ABCG8 Pro231Thr P231T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 1 - - ABCG8 Trp361Stop W361X pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - ABCG8 Tyr658Stop Y658X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ABHD5 Gln130Pro Q130P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 3 - - ABHD5 Glu7Lys E7K pathogenic Insufficiently evaluated pathogenic unknown Array 6 10702 0.000560642 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.068 Y - 0 - 3 N - - ABHD5 Glu260Lys E260K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 3 - - ABHD5 Ser33Stop S33X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ABL1 Glu255Lys E255K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ABL1 Glu255Val E255V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - ABL1 Met351Thr M351T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - ABL1 Phe311Leu F311L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ABL1 Thr315Ile T315I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - ABL1 Tyr253His Y253H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - ABO Pro234Ala P234A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - ACAD8 Arg302Gln R302Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 1 - - ACAD8 Arg308Trp R308W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - ACAD8 Gly355Ser G355S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - ACAD8 His267Gln H267Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - ACAD8 Met103Thr M103T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - ACADL Gln303Lys Q303K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 1 - - ACADM Arg256Thr R256T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - ACADM Cys244Arg C244R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - ACADM Gly170Arg G170R pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 6 Y 5 N 3 - - Variant is associated with Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADM Gly267Arg G267R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - ACADM Ile375Thr I375T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - ACADM Lys304Glu K304E pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 0 - 5 N 10 - - This variant is causative for Medium-chain acyl-CoA dehydrogenase deficiency. ACADM Met149Ile M149I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - ACADM Ser220Leu S220L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - ACADM Thr96Ile T96I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - ACADM Thr168Ala T168A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - ACADM Tyr42His Y42H pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y -1 - 5 N 10 - - This variant is associated with Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency ACADS Ala168Val A168V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - ACADS Arg46Trp R46W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - ACADS Arg107Cys R107C pathogenic Insufficiently evaluated pathogenic recessive Array 10 10750 0.000930232 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y - 8 Y 5 N 1 - - This variant is associated with Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS Arg147Trp R147W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - ACADS Arg301Trp R301W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - ACADS Arg356Trp R356W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - ACADS Arg359Cys R359C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - ACADS Gly66Ser G66S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - ACADS Gly68Cys G68C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - ACADS Gly185Ser G185S pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y - 2 - 4 N 10 - - This variant is associated with Short Chain Acyl-CoA Dehydrogenase Deficiency ACADS Ser329Leu S329L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - ACADS Trp153Arg W153R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - ACADSB Leu222Phe L222F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - ACADVL Ala416Thr A416T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.959 Y Y 1 - 6 N 1 - - ACADVL Arg410His R410H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - ACADVL Arg450His R450H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 3 - - ACADVL Arg613Trp R613W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - ACADVL Gly401Asp G401D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - ACADVL Lys382Gln K382Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.649 Y Y -2 - 5 N 1 - - ACADVL Phe458Leu F458L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 1 - - ACAN Asp2267Asn D2267N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - ACAT1 Ala333Pro A333P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - ACAT1 Ala347Thr A347T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - ACAT1 Asn93Ser N93S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 0 - 5 N 10 - - ACAT1 Gln145Glu Q145E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - -2 - 5 N - - ACAT1 Gln272Stop Q272X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - ACAT1 Gly150Arg G150R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - ACAT1 Gly379Val G379V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 4 - - ACAT1 Ile312Thr I312T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.805 Y - 3 - 4 N 10 - - ACAT1 Met1Lys M1K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.276 Y - 4 Y 4 N - - ACE Pro1199Leu P1199L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - ACE Tyr266Stop Y266X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - ACHE His322Asn H322N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ACOX1 Arg148Stop R148X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - ACOX1 Gln309Arg Q309R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 1 - - ACOX1 Gly178Cys G178C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - ACOX1 Met278Val M278V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 0 - 5 N 1 - - ACP1 Arg105Gln R105Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ACSL4 Arg529Ser R529S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - ACSL4 Pro375Leu P375L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - ACTA1 Asn115Ser N115S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ACTA1 Asp1Tyr D1Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - ACTA1 Asp292Val D292V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 9 - - ACTA1 Glu259Val E259V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - ACTA1 Glu334Ala E334A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - ACTA1 Gly15Arg G15R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.947 Y Y 6 Y 6 N 10 - - ACTA1 Gly268Cys G268C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - ACTA1 Ile136Met I136M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - ACTA1 Ile357Leu I357L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - ACTA1 Leu94Pro L94P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - ACTA1 Leu221Pro L221P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - ACTA1 Pro332Ser P332S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 9 - - ACTA1 Val163Leu V163L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ACTA1 Val163Met V163M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ACTA2 Arg149Cys R149C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 8 Y 6 N 7 - - ACTA2 Arg258Cys R258C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 3 - - ACTA2 Arg258His R258H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N 2 - - ACTB Arg183Trp R183W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.98 - - 7 Y 4 N - - ACTC1 Ala295Ser A295S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - ACTC1 Arg312His R312H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - ACTC1 Glu361Gly E361G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - ACTC1 His90Tyr H90Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y -1 - 6 N 2 - - ACTC1 Met123Val M123V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ACTG1 Lys118Met K118M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.051 - - 4 Y 2 N - - ACTG1 Pro264Leu P264L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.996 - - 7 Y 4 N - - ACTG1 Pro332Ala P332A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.316 - - 2 - 3 N - - ACTG1 Thr89Ile T89I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.407 - - 3 - 3 N - - ACTG1 Thr278Ile T278I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.407 - - 3 - 3 N - - ACTG1 Val370Ala V370A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.042 - - 2 - 2 N - - ACTN2 Gln9Arg Q9R pathogenic High clinical importance, Uncertain pathogenic dominant Array 6 10758 0.000557724 0 0 0 1 1 ! Y 1 Y 0 Y - - 4 - 3 - Y Y - - - Y Y 0 - 5 N 4 2 0 Hypothesized to cause dilated cardiomyopathy in a dominant manner, but observations lack statistical significance. ACTN3 Arg577Stop R577X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ACTN4 Lys228Glu K228E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - ACTN4 Ser235Pro S235P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - ACTN4 Thr232Ile T232I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - ACVR1 Arg206His R206H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - ACVR1 Arg258Ser R258S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 9 - - ACVR1 Gly356Asp G356D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 10 - - ACVR2B Arg40His R40H pathogenic Insufficiently evaluated pathogenic unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.144 - - 1 - 2 N 2 - - ACVR2B Val494Ile V494I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -4 - 3 N 1 - - ACVRL1 Arg374Trp R374W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - ACVRL1 Arg411Gln R411Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - ACVRL1 Arg411Pro R411P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 5 - - ACVRL1 Arg411Trp R411W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 6 - - ACVRL1 Arg484Trp R484W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - ACVRL1 Cys344Tyr C344Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - ACVRL1 Gly211Asp G211D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y Y 4 Y 6 N 5 - - ACVRL1 Ile398Asn I398N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - ACVRL1 Met376Arg M376R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 5 - - ACVRL1 Trp150Cys W150C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - ACVRL1 Trp399Ser W399S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 3 - - ACY1 Arg197Trp R197W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.996 - - 7 Y 4 N - - ACY1 Arg353Cys R353C pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 24 10758 0.0022309 0 0 0 3 0 - - - - 0 - 0 - 3 - 1 - - Y - - 1.0 - - 8 Y 4 N 1 0 Reported to cause Aminoacylase 1 deficiency in a recessive manner. This metabolic defect was first described by Van Coster, et al. 2005 and Sass et al. 2006. This variant was recognized as relatively common (ExAC reports 0.37% allele frequency in European data), but was seen homozygous in an affected individual, and compound heterozygous in another patient by Sass et al. 2007. ACY1 Arg393His R393H pathogenic Insufficiently evaluated pathogenic unknown Array 47 10758 0.00436884 0 0 0 1 1 - - - - - - - - - - - - - Y - - 0.9 - - 1 - 4 N - - Reported to cause aminoacylase 1 deficiency in a recessive manner. ACY1 Glu233Asp E233D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.989 - - -2 - 4 N - - ADA Ala215Thr A215T pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y Y 1 - 6 N 10 - - ADA Ala329Val A329V pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 2 - 6 N 7 - - ADA Arg76Trp R76W pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - ADA Arg101Gln R101Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - ADA Arg101Trp R101W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - ADA Arg149Gln R149Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 9 - - ADA Arg156Cys R156C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - ADA Arg156His R156H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 9 - - ADA Arg211Cys R211C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - ADA Arg211His R211H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - ADA Gly74Val G74V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 8 - - ADA Gly216Arg G216R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - ADA Leu107Pro L107P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - ADA Leu152Met L152M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10734 9.3161e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y -3 - 6 N 2 - - ADA Leu304Arg L304R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.739 Y Y 6 Y 5 N 8 - - ADA Pro274Leu P274L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y Y 7 Y 4 N 3 - - ADA Pro297Gln P297Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 4 - - ADA Ser291Leu S291L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - ADA Thr233Ile T233I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.328 Y Y 3 - 5 N 6 - - ADAM9 Arg256Stop R256X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAM9 Arg490Stop R490X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAMTS10 Ala25Thr A25T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.009 Y Y 1 - 4 N 1 - - ADAMTS10 Arg237Stop R237X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ADAMTS10 Gln318Stop Q318X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ADAMTS13 Ala250Val A250V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.489 Y - 2 - 4 N 7 - - ADAMTS13 Arg102Cys R102C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 9 - - ADAMTS13 Arg268Pro R268P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y - 5 Y 3 N 10 - - ADAMTS13 Arg398His R398H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - ADAMTS13 Arg528Gly R528G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 6 Y 5 N 8 - - ADAMTS13 Arg692Cys R692C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y - 8 Y 5 N 10 - - ADAMTS13 Cys951Gly C951G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 8 - - ADAMTS13 Cys1024Gly C1024G pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 7 - - ADAMTS13 Cys1213Tyr C1213Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - ADAMTS13 Gln449Stop Q449X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - ADAMTS13 His96Asp H96D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - ADAMTS13 Pro475Ser P475S pathogenic Insufficiently evaluated pathogenic unknown Array rs11575933 7 10734 0.000652133 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - ADAMTS13 Thr196Ile T196I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 10 - - ADAMTS2 Gln225Stop Q225X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAMTS2 Trp795Stop W795X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAMTSL2 Arg113His R113H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 1 - 5 N 3 - - ADAMTSL2 Glu114Lys E114K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.541 - Y 0 - 4 N 2 - - ADAMTSL2 Glu811Arg E811R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 2 - 4 N - - ADAMTSL2 Pro147Leu P147L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 7 Y 5 N 2 - - ADAMTSL2 Trp862Stop W862X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - ADAMTSL4 Tyr595Stop Y595X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - ADAR Arg474Stop R474X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAR Gln693Stop Q693X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAR Leu923Pro L923P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - ADAR Lys952Stop K952X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADAR Phe1165Ser F1165S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - ADH1B Arg48His R48H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 1 - 2 N - - ADH1C Gly78Stop G78X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ADIPOQ Arg112Cys R112C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - ADRB1 Arg389Gly R389G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - - Y - Y - - - 6 Y 3 N - - ADRB2 Arg16Gly R16G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 - - - - - - - - - - - - Y Y - Y - Y - 6 Y 4 N 7 - - ADRB2 Gln27Glu Q27E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - Y - Y - -2 - 4 N 9 - - ADRB2 Thr164Ile T164I pharmacogenetic Low clinical importance, Uncertain pharmacogenetic unknown Array rs1800888 118 10758 0.0109686 2 0 2 2 2 ! Y 4 Y 0 Y - - 0 Y 0 Y Y Y - - - Y - 3 - 4 N 10 0 0 This rare variant in β2-Adrenoceptor has only reported heterozygously (in 2-4% of the population) and strongly decreases the protein’s responsiveness to inducing compounds (agonists). Carriers of this variant are less sensitive to induction of increased heart rate, heart contraction, and vasodilation by β-AR agonists. Mixed data suggests that this variant does not have a significant impact on hypertension or heart disease. It may affect responsiveness to beta blocker drugs. ADSL Arg190Gln R190Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y - 0 - 3 N 10 - - ADSL Arg426His R426H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.726 Y - 1 - 4 N 10 - - ADSL Asp397Tyr D397Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - ADSL Lys246Glu K246E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 0 - 5 N 10 - - ADSL Met225Thr M225T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.136 Y - 2 - 3 N 3 - - ADSL Pro75Ala P75A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - ADSL Ser413Pro S413P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 9 - - AFP Trp181Stop W181X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AGA Ala101Val A101V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 2 - 5 N 3 - - AGA Cys163Ser C163S pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y - 3 - 5 N 10 - - This variant is associated with Aspartylglycosaminuria AGA Cys306Arg C306R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 5 - - AGA Gly60Asp G60D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 10 - - AGA Gly302Arg G302R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 4 - - AGA Ser72Pro S72P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.353 Y - 3 - 4 N 10 - - AGL Arg408Stop R408X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - AGL Gln6Stop Q6X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y - 10 Y 5 N 10 - - This variant is associated with Glycogen Storage Disease Type III AGL Gly1448Arg G1448R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - AGL Trp680Stop W680X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - AGPAT2 Arg68Stop R68X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - AGPAT2 Leu228Pro L228P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 9 - - AGPAT2 Lys215Stop K215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - AGPAT2 Phe189Stop F189X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - AGPS Arg419His R419H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 1 - - AGPS Leu469Pro L469P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 7 Y 5 N - - AGPS Thr309Ile T309I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.057 Y - 3 - 3 N - - AGRN Gly1709Arg G1709R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - AGRP Ala67Thr A67T pathogenic Insufficiently evaluated pathogenic unknown Array rs5030980 326 10758 0.030303 3 0 3 0 0 - - - - - - - - - - - - - Y - - 0.857 - - 1 - 4 N - - AGT Arg375Gln R375Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 5 - - AGT Glu202Stop E202X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - AGT Met235Thr M235T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 - - - - - - - - - - - - Y Y - Y - Y Y 2 - 5 N 10 - - AGTR1 Thr282Met T282M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 3 - - AGTR2 Arg324Gln R324Q pathogenic Insufficiently evaluated pathogenic unknown Array 28 8761 0.00319598 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y - 0 - 3 N 2 - - AGTR2 Gly21Val G21V pathogenic Insufficiently evaluated pathogenic unknown Array 27 8761 0.00308184 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - AGTR2 Ile53Phe I53F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - AGTR2 Ile337Val I337V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - -4 - 3 N 3 - - AGXT Arg233Cys R233C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - AGXT Arg233His R233H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 2 - - AGXT Gly41Arg G41R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 7 - - AGXT Gly82Gln G82Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - AGXT Gly588Ala G588A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - AGXT Gly630Ala G630A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - AGXT Ile244Thr I244T pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 0.414 Y Y 3 - 5 N 10 - - Hyperoxaluria, Primary, Type 1 AGXT Phe152Ile F152I pathogenic Insufficiently evaluated pathogenic recessive Array 1 10728 9.3214e-05 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y 2 - 6 N 10 - - This variant is associated with Hyperoxaluria, Primary, Type 1 AGXT Ser205Pro S205P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 3 - 6 N 5 - - AGXT Trp246Stop W246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - AGXT Tyr66Stop Y66X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - AHCY Trp112Stop W112X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AHCY Tyr143Cys Y143C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 6 Y 4 N - - AHI1 Arg351Stop R351X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - AHI1 Arg435Stop R435X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - AHI1 Arg723Gln R723Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 2 - - AHI1 Val443Asp V443D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y Y 8 Y 6 N 8 - - AHSG Thr230Met T230M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - AHSG Thr238Ser T238S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - AICDA Arg24Trp R24W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - AICDA Cys147Stop C147X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - AICDA Leu106Pro L106P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 4 - - AICDA Met139Val M139V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 2 - - AICDA Phe151Ser F151S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 2 - - AICDA Trp68Stop W68X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - AICDA Trp80Arg W80R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - AIP Arg22Stop R22X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AIP Arg304Gln R304Q pathogenic Low clinical importance, Uncertain pathogenic dominant Array rs104894190 6 10744 0.000558451 1 0 1 1 1 0 Y - - 0 Y - - 1 Y 0 - Y Y - - 0.417 Y - 0 - 4 N 8 0 0 Proposed to cause predisposition to pituitary adenomas, seen in a single Cushing's syndrome case. Many individuals have pituitary adenomas (about one in five), very few go on to cause hormonal dysregulation. The single case reported for this variant lacked statistical significance. AIP Arg304Stop R304X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AIP Gln14Stop Q14X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AIP Tyr268Stop Y268X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AIPL1 Cys239Arg C239R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 8 Y 6 N 9 - - AIPL1 Trp278Stop W278X pathogenic Insufficiently evaluated pathogenic unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - AIRE Arg139Stop R139X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AIRE Arg257Stop R257X pathogenic Insufficiently evaluated pathogenic recessive Array 1 10740 9.3109e-05 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y - 10 Y 5 N 10 - - This variant associated with Autoimmune Polyendocrinopathy Syndrome Type 1 AIRE Gly228Trp G228W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 7 Y 5 N 10 - - AIRE Lys83Glu K83E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.887 Y - 0 - 5 N 10 - - AIRE Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.071 Y - -3 - 3 N 10 - - AK1 Arg107Stop R107X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AK1 Arg128Trp R128W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - AK1 Gly40Arg G40R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - AK1 Gly64Arg G64R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - AK1 Tyr164Cys Y164C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - AK2 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.988 - - 0 - 4 N - - AKR1D1 Leu106Phe L106F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.17 - - 0 - 2 N - - AKR1D1 Pro198Leu P198L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - AKT1 Glu17Lys E17K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.991 - - 0 - 4 N - - AKT2 Arg274His R274H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 1 - 4 N - - ALAD Ala274Thr A274T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.759 Y - 1 - 4 N 10 - - ALAD Arg240Trp R240W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - ALAD Gly133Arg G133R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - ALAD Phe12Leu F12L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.965 Y - 0 - 5 N 10 - - ALAD Val275Met V275M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y - 0 - 5 N 10 - - ALAS2 Ala172Thr A172T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 - - 1 - 4 N 9 - - ALAS2 Arg411Cys R411C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 8 Y 4 N 10 - - ALAS2 Arg452Cys R452C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 8 Y 4 N 10 - - ALAS2 Asp159Asn D159N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.182 - - -1 - 2 N 2 - - ALAS2 Asp159Tyr D159Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 - - 7 Y 4 N 7 - - ALAS2 Asp190Val D190V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 - - 8 Y 2 N 6 - - ALAS2 Cys395Tyr C395Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.938 - - 6 Y 4 N 3 - - ALAS2 Gly291Ser G291S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 2 - 4 N 3 - - ALAS2 His524Asp H524D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 3 - 4 N 1 - - ALAS2 Ile471Asn I471N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - ALAS2 Lys299Gln K299Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.936 - - -2 - 4 N 10 - - ALAS2 Phe165Leu F165L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 - - 0 - 4 N 10 - - ALAS2 Ser568Gly S568G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.926 - - 2 - 4 N 2 - - ALAS2 Thr388Ser T388S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 - - -2 - 4 N 3 - - ALAS2 Tyr199His Y199H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - -1 - 4 N 10 - - ALB Arg114Gly R114G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - ALB Arg218His R218H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - ALB Arg218Pro R218P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - ALB Asn318Lys N318K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - ALB Asp1Val D1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - ALB Asp63Asn D63N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 6 - - ALB Asp269Gly D269G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - ALB Asp365His D365H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - ALB Asp365Val D365V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - ALB Asp375Asn D375N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - ALB Asp494Asn D494N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - ALB Asp550Gly D550G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - ALB Asp563Asn D563N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - ALB Cys177Phe C177F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - ALB Gln268Arg Q268R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Gln580Lys Q580K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N - - ALB Glu60Lys E60K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - ALB Glu82Lys E82K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - ALB Glu119Lys E119K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.896 Y - 0 - 5 N - - ALB Glu321Lys E321K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.095 Y - 0 - 3 N 4 - - ALB Glu333Lys E333K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Glu354Lys E354K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Glu358Lys E358K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - ALB Glu376Asn E376N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - ALB Glu376Lys E376K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Glu382Lys E382K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.079 Y - 0 - 3 N - - ALB Glu479Lys E479K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Glu501Lys E501K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - ALB Glu505Lys E505K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Glu565Lys E565K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - ALB Glu570Lys E570K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB His3Gln H3Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - ALB His3Tyr H3Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - ALB His128Arg H128R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - ALB Leu66Pro L66P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y - 7 Y 5 N 10 - - ALB Lys225Gln K225Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N - - ALB Lys240Glu K240E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - ALB Lys276Asn K276N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - ALB Lys313Asn K313N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - ALB Lys372Glu K372E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Lys536Glu K536E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Lys541Glu K541E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Lys573Glu K573E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ALB Lys574Asn K574N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - ALB Tyr140Cys Y140C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - ALDH18A1 Arg84Gln R84Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - ALDH18A1 His784Tyr H784Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -1 - 4 N - - ALDH3A2 Asn386Ser N386S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 2 - - ALDH3A2 Cys214Tyr C214Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N - - ALDH3A2 Lys266Asn K266N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.41 Y - 1 - 4 N 1 - - ALDH3A2 Pro315Ser P315S pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y - 3 - 5 N 4 - - This variant associated with Sjogren-Larsson Syndrome ALDH4A1 Ser352Leu S352L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10752 0.000186011 0 0 0 2 2 1 Y 1 Y - - - - 2 Y - - Y Y - - 0.994 Y - 6 Y 5 N 10 - - The ALDH4A1-S352L allele is associated with hyperprolinemia type II, a recessive disorder of proline metabolism. Some cases are benign, others have ben associated with mental retardation. ALDH5A1 Arg412Stop R412X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ALDH5A1 Gly409Asp G409D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - ALDH5A1 Trp204Stop W204X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ALDH6A1 Gly446Arg G446R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - ALDH7A1 Ala171Val A171V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - ALDH7A1 Arg82Stop R82X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ALDH7A1 Asn273Ile N273I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - ALDH7A1 Glu399Gln E399Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 3 - - ALDH7A1 Tyr380Stop Y380X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ALDH9A1 Cys115Ser C115S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - Y - 3 - 4 N - - ALDOA Asp128Gly D128G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 2 - - ALDOA Glu206Lys E206K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 4 - - ALDOB Ala149Pro A149P pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - 5 Y - - - - - - Y Y - - - Y - 2 - 4 N 10 - - This variant is associated with Hereditary Fructose Intolerance ALDOB Ala174Asp A174D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - ALDOB Arg3Stop R3X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ALDOB Arg59Stop R59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ALDOB Asn334Lys N334K pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y - 1 - 4 N 10 - - ALDOB Cys240Stop C240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ALDOB Trp147Arg W147R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - ALG1 Glu342Pro E342P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - ALG1 Ser150Arg S150R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.18 Y Y 3 - 4 N 10 - - ALG1 Ser258Leu S258L pathogenic Insufficiently evaluated pathogenic unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.143 Y Y 6 Y 4 N 10 - - ALG12 Arg146Gln R146Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 10 - - ALG12 Gly101Arg G101R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.284 Y Y 6 Y 5 N 6 - - ALG12 Leu158Pro L158P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 7 Y 6 N 2 - - ALG12 Phe142Val F142V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 7 - - ALG12 Thr61Met T61M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - ALG12 Tyr414Stop Y414X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ALG3 Arg171Gln R171Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10176 9.827e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 3 - - ALG3 Gly118Asp G118D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 3 - - ALG3 Met157Lys M157K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 4 Y 6 N 1 - - ALG3 Trp71Arg W71R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - ALG6 Ala333Val A333V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.858 Y Y 2 - 6 N 10 - - ALG6 Ser478Pro S478P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y Y 3 - 6 N 6 - - ALG8 Gly275Asp G275D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N - - ALG8 Thr47Pro T47P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 5 - - ALG9 Glu523Lys E523K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 10 - - ALG9 Tyr286Cys Y286C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - ALK Arg1192Pro R1192P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 6 - - ALK Arg1275Gln R1275Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - ALK Gly1128Ala G1128A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 6 - - ALK Thr1151Met T1151M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 3 - - ALMS1 Arg2722Stop R2722X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ALMS1 Glu2795Stop E2795X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ALMS1 Trp3664Stop W3664X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - ALOX12B His578Gln H578Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 3 - - ALOX12B Leu426Pro L426P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 3 - - ALOXE3 Arg234Stop R234X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - ALOXE3 Arg396Ser R396S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 4 - - ALOXE3 Val500Phe V500F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 3 - 6 N 5 - - ALPL Ala16Val A16V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - ALPL Ala99Thr A99T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - ALPL Ala162Thr A162T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - ALPL Ala176Thr A176T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.672 Y Y 1 - 5 N 2 - - ALPL Arg54Cys R54C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - ALPL Arg54Pro R54P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 6 - - ALPL Arg119His R119H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - ALPL Arg272Cys R272C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y Y 8 Y 6 N 3 - - ALPL Asn400Ser N400S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ALPL Asp277Ala D277A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - ALPL Asp378Val D378V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - ALPL Gln190Pro Q190P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - ALPL Glu174Lys E174K pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 0 - 5 N 10 - - This variant is associated with Hypophosphatasia ALPL Glu281Lys E281K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - ALPL Gly145Val G145V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - ALPL Gly232Val G232V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - ALPL Gly317Asp G317D pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 4 Y 5 N 10 - - Variant is associated with Hypophosphatasia ALPL Gly439Arg G439R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - ALPL Phe310Leu F310L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 0 - 5 N 10 - - This variant is associated with Hypophosphatasia ALPL Pro91Leu P91L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 6 - - ALPL Tyr419His Y419H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - ALS2 Arg998Stop R998X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ALS2 Cys156Tyr C156Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - ALS2 Gln715Stop Q715X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ALX3 Arg183Trp R183W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 4 - - ALX3 Arg196Trp R196W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 3 - - ALX3 Asn203Ser N203S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 3 - - ALX3 Leu168Val L168V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 3 - - ALX3 Tyr181Stop Y181X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - ALX4 Arg218Gln R218Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - ALX4 Arg272Pro R272P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 5 - - ALX4 Gln140Stop Q140X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ALX4 Gln246Stop Q246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ALX4 Ser207Stop S207X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - AMACR Leu107Pro L107P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - AMACR Ser52Pro S52P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - AMELX Glu191Stop E191X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AMELX Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - AMELX Pro70Thr P70T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - AMELX Thr51Ile T51I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - AMELX Trp4Ser W4S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - AMH Arg191Stop R191X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AMH Glu358Stop E358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - AMHR2 Arg406Gln R406Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.057 - - 0 - 2 N - - AMN Thr41Ile T41I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 3 - 4 N 9 - - AMPD1 Arg388Trp R388W pathogenic Insufficiently evaluated pathogenic unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - AMPD1 Arg425His R425H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - AMPD3 Arg573Cys R573C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - AMT Arg320His R320H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - AMT Asp276His D276H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - AMT Gln192Stop Q192X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - AMT Gly47Arg G47R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.68 Y Y 6 Y 5 N 5 - - AMT Gly269Asp G269D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 3 - - AMT His42Arg H42R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - ANG Arg31Lys R31K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 10 - - ANG Cys39Trp C39W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - ANG Gln12Leu Q12L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - ANG Ile46Val I46V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - ANG Lys17Glu K17E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ANG Lys17Ile K17I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - ANG Lys40Ile K40I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - ANG Pro112Leu P112L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.836 Y Y 7 Y 5 N 10 - - ANG Ser28Asn S28N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.022 Y Y 0 - 4 N 10 - - ANG Val113Ile V113I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 2 - - ANGPTL4 Glu40Lys E40K pathogenic Insufficiently evaluated pathogenic dominant Array rs116843064 109 10230 0.0106549 2 0 2 2 2 0 Y - - - - - - - - - - - Y - - 0.98 - - 0 - 4 N - - This dominant protective variant reduces the mean plasma triglyceride level by 15% in heterozygous carriers. ANK1 Arg1833Stop R1833X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - Y 10 Y 5 N - - ANK1 Glu1669Stop E1669X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - Y 10 Y 5 N - - ANK1 Trp1721Stop W1721X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - Y 10 Y 5 N - - ANK2 Arg1788Trp R1788W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - ANK2 Glu1425Gly E1425G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 6 Y 5 N 10 - - ANK2 Glu1813Lys E1813K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - ANK2 Leu1622Ile L1622I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.032 Y - -2 - 3 N 10 - - ANK2 Thr1626Asn T1626N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - ANKH Gly389Arg G389R pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.442 - Y 6 Y 4 N 6 - - ANKH Met48Thr M48T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 2 - 5 N 10 - - ANKH Pro5Leu P5L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 7 Y 5 N 10 - - ANKH Pro5Thr P5T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 - Y 4 Y 5 N 10 - - ANTXR1 Ala326Thr A326T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.003 - - 1 - 2 N - - ANTXR2 Glu220Stop E220X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 4 - - ANTXR2 Gly105Asp G105D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 4 Y 5 N 3 - - ANTXR2 Ile189Thr I189T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 - Y 3 - 5 N 3 - - ANTXR2 Leu329Arg L329R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.838 - Y 6 Y 4 N 3 - - ANTXR2 Tyr381Cys Y381C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 6 Y 5 N 1 - - AP1S2 Arg52Stop R52X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - AP1S2 Gln36Stop Q36X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - AP1S2 Gln66Stop Q66X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - AP3B1 Arg302Stop R302X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 4 - - AP3B1 Arg509Stop R509X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 7 - - AP3B1 Glu659Stop E659X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 7 - - AP3B1 Leu540Arg L540R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 6 Y 4 N - - APC Arg302Stop R302X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 2 Y - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - APC Arg414Cys R414C pathogenic Insufficiently evaluated pathogenic unknown Array 4 10756 0.000371885 0 0 0 1 1 1 Y - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - APC Arg499Stop R499X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - APC Arg554Stop R554X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - APC Arg564Stop R564X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - APC Gln208Stop Q208X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - APC Gln215Stop Q215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - APC Gln541Stop Q541X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - APC Gln1067Stop Q1067X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - APC Gln1338Stop Q1338X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - APC Glu1317Gln E1317Q pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array rs1801166 95 10756 0.00883228 1 0 1 3 2 1 Y - - 0 Y 0 Y 4 Y 4 Y Y Y - - - Y Y -2 - 5 N 10 1 0 This rare variant has been hypothesized to increase risk of colon cancer. Later studies have contradicted this, finding no significant enrichment and concluding the variant does not increase risk. APC Gly1120Glu G1120E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y Y 6 Y 4 N 6 - - APC Ile1307Lys I1307K pathogenic Insufficiently evaluated pathogenic unknown Array 13 10756 0.00120863 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - APC Leu698Stop L698X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - APC Ser280Stop S280X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - APC Ser713Stop S713X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - APC Ser1395Cys S1395C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 3 - 6 N 3 - - APC Trp157Stop W157X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - APC Tyr486Stop Y486X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - APC Tyr935Stop Y935X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - APOA1 Ala175Pro A175P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - APOA1 Arg10Leu R10L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - APOA1 Arg173Cys R173C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - APOA1 Arg173Pro R173P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 2 - - APOA1 Gln32Stop Q32X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - APOA1 Gln84Stop Q84X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - APOA1 Glu136Lys E136K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - APOA1 Glu198Lys E198K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - APOA1 Gly26Arg G26R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 4 - - APOA1 Leu60Arg L60R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - APOA1 Leu90Pro L90P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - APOA1 Leu174Ser L174S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - APOA1 Lys107Stop K107X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOA1 Pro3Arg P3R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 2 - - APOA1 Pro4Arg P4R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - APOA1 Pro143Arg P143R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - APOA1 Pro165Arg P165R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 7 - - APOA1 Trp50Arg W50R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - APOA1 Val156Glu V156E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 6 - - APOA4 Gln360His Q360H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - APOA4 Glu230Lys E230K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - APOA5 Gln139Stop Q139X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - APOB Arg1306Stop R1306X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOB Arg2058Stop R2058X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOB Arg2495Stop R2495X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOB Arg3500Gln R3500Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - APOB Arg3531Cys R3531C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - APOB Gln1450Stop Q1450X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOB Gln2252Stop Q2252X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOB Glu4034Arg E4034R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - APOB Leu3041Stop L3041X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOB Tyr1173Stop Y1173X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - APOB Val1829Cys V1829C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - APOC2 Glu38Lys E38K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - APOC2 Lys19Thr K19T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 8 - - APOC2 Lys55Gln K55Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N - - APOC2 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 0 - 5 N - - APOC2 Trp26Arg W26R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - APOC2 Tyr37Stop Y37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOC2 Tyr63Stop Y63X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - APOC3 Arg19Stop R19X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - APOC3 Lys58Glu K58E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - APOC3 Thr74Ala T74A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - APOE Arg25Cys R25C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - APOE Arg134Gln R134Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - APOE Arg136Ser R136S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - APOE Arg145Cys R145C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - APOE Arg145His R145H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - APOE Arg145Pro R145P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - APOE Arg158Cys R158C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - APOE Arg228Cys R228C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - APOE Arg274His R274H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - APOE Cys112Arg C112R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y - Y - 8 Y 4 N 10 - - APOE Glu3Lys E3K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - APOE Lys146Gln K146Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 8 - - APOE Lys146Glu K146E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - APOE Ser296Arg S296R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - APOE Thr42Ala T42A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 5 - - APOE Trp210Stop W210X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - APOH Val247Leu V247L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - APP Ala673Val A673V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 - - - - - - - - - - - - Y Y - - 0.078 Y Y 2 - 4 N 10 - - APP Ala692Gly A692G pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 2 - - - - - - 2 Y - - - - Y Y - - 0.932 Y Y 1 - 6 N 10 - - APP Ala713Thr A713T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.985 Y Y 1 - 6 N 10 - - APP Asn694Asp N694D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - APP Glu665Asp E665D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.051 Y Y -2 - 4 N 7 - - APP Glu693Gln E693Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 1 Y - - - - - - - - - - Y Y - - 0.62 Y Y -2 - 5 N 10 - - APP Glu693Gly E693G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.978 Y Y 6 Y 6 N 10 - - APP Glu693Lys E693K pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 2 - - - - - - - - - - - - Y Y - - 0.094 Y Y 0 - 4 N 10 - - APP Ile716Val I716V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.97 Y Y -4 - 6 N 10 - - APP Leu705Val L705V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 0 - 6 N 10 - - APP Thr714Ala T714A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N 10 - - APP Thr714Ile T714I pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 2 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 10 - - APP Val715Met V715M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.948 Y Y 0 - 6 N 10 - - APP Val717Gly V717G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - 2 Y - - - - Y Y - - 0.998 Y Y 8 Y 6 N 10 - - APP Val717Ile V717I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 1 Y - - - - 2 Y - - - - Y Y - - 0.97 Y Y -4 - 6 N 10 - - APP Val717Leu V717L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 0 - 6 N 10 - - APP Val717Phe V717F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 10 - - APRT Asp65Val D65V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 8 Y 5 N 9 - - APRT Leu110Pro L110P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 3 - - APRT Met136Thr M136T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - APRT Trp98Stop W98X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - APTX His27Arg H27R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - APTX Leu223Pro L223P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - APTX Pro32Leu P32L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - APTX Trp279Stop W279X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - APTX Val89Gly V89G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - AQP1 Pro38Leu P38L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.974 - - 7 Y 4 N - - AQP2 Ala147Thr A147T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y Y 1 - 4 N 10 - - AQP2 Ala190Thr A190T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - AQP2 Arg187Cys R187C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - AQP2 Asn68Ser N68S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - AQP2 Cys181Trp C181W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 10 - - AQP2 Gln57Pro Q57P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 9 - - AQP2 Glu258Lys E258K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.886 Y Y 0 - 6 N 10 - - AQP2 Gly64Arg G64R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 6 Y 6 N 10 - - AQP2 Gly100Val G100V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 9 - - AQP2 Gly175Arg G175R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - AQP2 Leu22Val L22V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AQP2 Pro262Leu P262L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.931 Y Y 7 Y 6 N 10 - - AQP2 Ser216Pro S216P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y Y 3 - 6 N 10 - - AQP2 Thr125Met T125M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.831 Y Y 2 - 5 N 10 - - AQP2 Thr126Met T126M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.743 Y Y 2 - 5 N 10 - - AQP9 Gly264Val G264V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - AR Ala721Thr A721T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - AR Ala771Thr A771T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - AR Arg607Gln R607Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AR Arg608Lys R608K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 10 - - AR Arg726Leu R726L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - AR Arg772Cys R772C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - AR Arg773Cys R773C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - AR Arg773His R773H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - AR Arg839Cys R839C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - AR Arg839His R839H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - AR Arg840Cys R840C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - AR Arg846His R846H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - AR Arg855His R855H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - AR Cys579Phe C579F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - AR Gln60Stop Q60X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - AR Gln798Glu Q798E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - AR Gln902Arg Q902R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AR Glu2Lys E2K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AR Gly577Arg G577R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - AR Gly743Glu G743E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - AR Gly743Val G743V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - AR His689Pro H689P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 8 - - AR His874Tyr H874Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - AR Ile869Met I869M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - AR Leu172Stop L172X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - AR Leu676Pro L676P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - AR Leu707Arg L707R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - AR Leu712Phe L712F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AR Lys588Stop K588X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - AR Lys882Stop K882X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - AR Met780Ile M780I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - AR Met786Val M786V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - AR Phe582Tyr F582Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - AR Phe856Leu F856L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AR Pro546Ser P546S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - AR Ser647Asn S647N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - AR Ser740Cys S740C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - AR Ser865Pro S865P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - AR Ser888Ser S888S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -9 - 5 N 10 - - AR Thr877Ala T877A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - AR Thr877Ser T877S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - AR Trp717Stop W717X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - AR Trp794Stop W794X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - AR Tyr761Cys Y761C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - AR Val730Met V730M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - AR Val865Leu V865L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - AR Val865Met V865M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - AR Val866Met V866M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - ARFGEF2 Glu209Lys E209K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 0 - 2 N - - ARG1 Arg21Stop R21X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ARG1 Arg291Stop R291X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ARG1 Gly138Val G138V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 2 - - ARG1 Gly235Arg G235R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.904 Y Y 6 Y 6 N 9 - - ARG1 Ile11Thr I11T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.944 Y Y 3 - 6 N 2 - - ARG1 Thr290Ser T290S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - ARG1 Trp122Stop W122X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - ARH Gln136Stop Q136X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - ARH Pro202His P202H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - ARH Trp22Stop W22X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - ARHGAP26 Asn417Ser N417S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 0 - 2 N - - ARHGEF10 Thr109Ile T109I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - ARHGEF9 Gly55Ala G55A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.183 - Y 1 - 3 N 10 - - ARIX Ala72Val A72V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 3 - - ARL13B Arg79Gln R79Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 0 - 5 N 5 - - ARL13B Arg200Cys R200C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 8 Y 5 N 3 - - ARL13B Trp82Stop W82X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 3 - - ARL6 Arg122Stop R122X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ARL6 Leu170Trp L170W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 5 Y 6 N 1 - - ARL6 Thr31Arg T31R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 1 - - ARL6 Thr31Met T31M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 1 - - ARSA Ala212Val A212V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.305 Y Y 2 - 5 N 10 - - ARSA Ala224Val A224V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 2 - 6 N 1 - - ARSA Arg84Gln R84Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - ARSA Arg244Cys R244C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - ARSA Arg288Cys R288C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 6 - - ARSA Arg370Gln R370Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N - - ARSA Arg370Trp R370W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - ARSA Arg390Trp R390W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - ARSA Asp169Asn D169N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y -1 - 4 N 3 - - ARSA Asp335Val D335V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10696 9.3492e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - ARSA Cys300Phe C300F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - ARSA Gln486Stop Q486X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - ARSA Glu253Lys E253K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 7 - - ARSA Glu382Lys E382K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - ARSA Gly86Asp G86D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 4 Y 6 N 6 - - ARSA Gly99Asp G99D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 5 - - ARSA Gly122Ser G122S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 1 - - ARSA Gly154Asp G154D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 4 Y 6 N 1 - - ARSA Gly245Arg G245R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 3 - - ARSA Gly309Ser G309S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 1 - - ARSA Ile179Ser I179S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 2 - - - - - - - - - - - - Y Y - - 0.663 Y Y 5 Y 5 N 10 - - Reported to cause metachromatic leukodystrophy (adult and juvenile onset) in a recessive manner. ARSA Leu135Pro L135P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 3 - - ARSA Pro136Leu P136L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - ARSA Pro155Arg P155R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 5 Y 6 N 1 - - ARSA Pro167Arg P167R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.1 Y Y 5 Y 4 N 3 - - ARSA Pro231Thr P231T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 1 - - ARSA Pro377Leu P377L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y 7 Y 6 N 8 - - This variant is associated with Arylsulfatase A Deficiency ARSA Pro425Thr P425T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - ARSA Pro426Leu P426L pathogenic Insufficiently evaluated pathogenic recessive Array 5 10754 0.000464943 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y 7 Y 6 N 10 - - Arylsulfatase A Deficiency ARSA Ser96Leu S96L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 4 - - ARSA Ser96Phe S96F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 10 - - ARSA Ser295Tyr S295Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 5 Y 6 N 1 - - ARSA Thr274Met T274M pathogenic Insufficiently evaluated pathogenic recessive Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y 2 - 6 N 10 - - This variant is associated with Arylsulfatase A Deficiency ARSA Thr286Pro T286P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.552 Y Y 4 Y 5 N 3 - - ARSA Thr408Ile T408I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.087 Y Y 3 - 4 N 2 - - ARSA Thr409Ile T409I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.462 Y Y 3 - 5 N 3 - - ARSB Arg95Gln R95Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 4 - - ARSB Cys117Arg C117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 6 - - ARSB Cys405Tyr C405Y pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.252 Y - 6 Y 4 N 4 - - ARSB Gly137Val G137V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 5 - - ARSB His393Pro H393P pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 4 - - ARSB Leu236Pro L236P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - ARSB Tyr210Cys Y210C pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - ARSE Arg12Ser R12S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.797 Y Y 3 - 5 N 10 - - ARSE Arg111Pro R111P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 2 - - ARSE Cys492Tyr C492Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 3 - - ARSE Gly117Arg G117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.508 Y Y 6 Y 5 N 1 - - ARSE Gly137Val G137V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 1 - - ARSE Gly245Arg G245R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 6 Y 4 N 1 - - ARSE Pro578Ser P578S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.758 Y Y 3 - 5 N 8 - - ARSE Trp581Stop W581X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ART4 Asn265Asp N265D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - ART4 Gln148Stop Q148X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ARX Arg332His R332H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - ARX Gln373Stop Q373X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - ARX Glu369Stop E369X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ARX Gly286Ser G286S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - ARX Leu33Pro L33P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - ARX Leu343Gln L343Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.932 Y - 5 Y 5 N 4 - - ARX Pro353Leu P353L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - ARX Thr333Asn T333N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 1 - 5 N 9 - - ASAH Asn320Asp N320D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 6 - - ASAH Glu138Val E138V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - ASAH Leu182Val L182V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 4 - - ASAH Thr222Lys T222K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 8 - - ASAH Tyr36Cys Y36C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 5 - - ASL Arg95Cys R95C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 8 - - ASL Arg379Cys R379C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 8 Y 5 N 9 - - ASL Arg385Cys R385C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 8 - - ASL Gln286Arg Q286R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 0 - 5 N 10 - - ASL Val178Met V178M pathogenic Insufficiently evaluated pathogenic unknown Array 4 10754 0.000371954 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.122 Y - 0 - 3 N 9 - - ASPA Ala305Glu A305E pathogenic Insufficiently evaluated pathogenic recessive Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y 3 - 6 N 10 - - Canavan Disease ASPA Arg71His R71H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - ASPA Asp249Val D249V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 8 Y 6 N 10 - - ASPA Cys152Arg C152R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 2 - - ASPA Cys218Stop C218X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ASPA Glu24Gly E24G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - ASPA Glu285Ala E285A pathogenic High clinical importance, pathogenic recessive Array 4 10758 0.000371816 0 0 0 0 0 - - - - 5 Y 5 Y 5 - 1 Y Y Y - - 1.0 Y Y 3 - 6 N 10 2 2 Causes Canavan disease in a recessive manner, a fatal neurological disorder. Three sources have recorded this in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002723), and multiple supporting publications. This variant is reported to account for the majority of disease-causing alleles in European studies, e.g. in Kaul et al 1993 (PMID: 8252036) this variant accounted for 85% of disease-causing alleles. ASPA Tyr231Cys Y231C pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 0.998 Y Y 6 Y 6 N 10 - - This variant is associated with Canavan Disease ASPA Tyr231Stop Y231X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - Canavan Disease ASPM Arg117Stop R117X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ASPM Gln3060Stop Q3060X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ASPM Trp1326Stop W1326X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ASPM Tyr2063Stop Y2063X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ASS Arg86Cys R86C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - ASS Arg108Leu R108L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 7 - - ASS Arg157His R157H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 5 - - ASS Arg279Stop R279X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - ASS Arg304Trp R304W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - ASS Arg363Trp R363W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 8 - - ASS Gly14Ser G14S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 10 - - ASS Gly324Ser G324S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 7 - - ASS Gly362Val G362V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - ASS Gly390Arg G390R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - ASS Lys310Gln K310Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -2 - 3 N 4 - - ASS Ser18Leu S18L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - ASS Ser180Asn S180N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - ASS Trp179Arg W179R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - AT3 Arg393Cys R393C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 4 - - ATIC Lys426Arg K426R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - -3 - 4 N - - ATM Arg35Stop R35X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - - Y Y 10 Y 6 N 10 - - Ataxia-Telangiectasia ATM Arg2443Stop R2443X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ATM Arg3047Stop R3047X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - ATM Asp1682His D1682H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - ATM Gln1361Stop Q1361X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ATM Glu2423Gly E2423G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - ATM Leu2656Pro L2656P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - ATM Met1040Val M1040V pathogenic Insufficiently evaluated pathogenic unknown Array rs3092857 141 10758 0.0131065 4 0 4 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 8 - - ATM Phe2827Cys F2827C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - ATM Ser49Cys S49C pathogenic Low clinical importance, Uncertain pathogenic other Array rs1800054 107 10750 0.00995349 1 0 1 2 2 1 Y - - 0 Y 0 Y 4 Y 4 Y Y Y - - - Y Y 3 - 5 N 10 0 0 May be associated with a small increased risk of breast cancer. ATM Ser1770Stop S1770X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ATM Tyr2677Cys Y2677C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - ATM Val2424Gly V2424G pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - ATP13A2 Gly504Arg G504R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.015 Y - 6 Y 3 N 3 - - ATP1A2 Arg65Trp R65W pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 2 10758 0.000185908 0 0 0 1 0 2 Y - - - - 1 Y 3 - 1 - Y Y - - 0.863 Y Y 7 Y 6 N 1 1 0 Hypothesized to cause familial hemiplagic migraine type 2 in a dominant manner, which causes migraine with associated motor weakness as well as aura. This variant was reported seen in only one family; not enough evidence has been reported to establish a statistically significant association with the disease. ATP1A2 Arg548His R548H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - ATP1A2 Arg689Gln R689Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - ATP1A2 Asp718Asn D718N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - ATP1A2 Gly301Arg G301R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - ATP1A2 Ile286Thr I286T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.211 Y Y 3 - 5 N 3 - - ATP1A2 Leu764Pro L764P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 Y Y 7 Y 6 N 10 - - ATP1A2 Met731Thr M731T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.825 Y Y 2 - 5 N 10 - - ATP1A2 Pro979Leu P979L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 7 Y 6 N 10 - - ATP1A2 Thr345Ala T345A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.692 Y Y 1 - 5 N 10 - - ATP1A2 Thr376Met T376M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - ATP1A2 Thr378Asn T378N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 1 - 6 N 10 - - ATP1A2 Thr415Met T415M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.94 Y Y 2 - 6 N 3 - - ATP1A2 Trp887Arg W887R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - ATP1A3 Asp801Tyr D801Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - ATP1A3 Glu277Lys E277K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - ATP1A3 Ile274Thr I274T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - ATP1A3 Ile758Ser I758S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - ATP1A3 Phe780Leu F780L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - ATP1A3 Thr613Met T613M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 7 - - ATP2A1 Arg198Stop R198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ATP2A1 Cys675Stop C675X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ATP2A1 Pro789Leu P789L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - ATP2A2 Arg131Gln R131Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.793 Y - 0 - 4 N 9 - - ATP2A2 Asn767Ser N767S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - ATP2A2 Cys268Phe C268F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 5 - - ATP2A2 Cys560Arg C560R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 2 - - ATP2A2 Gln108Stop Q108X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ATP2A2 Gly23Glu G23E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 3 - - ATP2A2 Gly769Arg G769R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 8 - - ATP2A2 Pro602Leu P602L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - ATP2A2 Tyr894Stop Y894X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - ATP2B2 Val586Met V586M pathogenic Insufficiently evaluated pathogenic recessive Array 1 0 1 1 1 1 Y - - - - - - - - - - - Y - - - - - 0 - 3 N - - ATP2C1 Ala304Thr A304T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 1 - 5 N - - ATP2C1 Arg468Stop R468X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - ATP2C1 Cys490Phe C490F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 4 - - ATP2C1 Leu584Pro L584P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.911 Y - 7 Y 5 N 4 - - ATP6AP2 Asp107Asp D107D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -10 - 4 N 10 - - ATP6V0A2 Arg63Stop R63X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ATP6V0A2 Gln765Stop Q765X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ATP6V0A4 Arg807Gln R807Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - ATP6V0A4 Glu753Stop E753X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ATP6V0A4 Pro524Leu P524L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - ATP6V0A4 Tyr502Stop Y502X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - ATP6V1B1 Arg31Stop R31X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - ATP6V1B1 Gly78Arg G78R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - ATP6V1B1 Leu81Pro L81P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - ATP7A Arg201Stop R201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - ATP7A Arg980Stop R980X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - ATP7A Asn1304Ser N1304S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - ATP7A Gly1019Asp G1019D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - ATP7A Ser637Leu S637L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - ATP7B Ala874Val A874V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 10 - - ATP7B Arg778Leu R778L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - ATP7B Arg919Gly R919G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 6 Y 6 N 10 - - ATP7B Arg969Gln R969Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - ATP7B Asn915Ser N915S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - ATP7B Asn1270Ser N1270S pathogenic Insufficiently evaluated pathogenic unknown Array 2 10274 0.000194666 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - ATP7B Asp765Asn D765N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y -1 - 6 N 8 - - ATP7B Gln289Stop Q289X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ATP7B Gly691Arg G691R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 6 Y 6 N 4 - - ATP7B Gly943Ser G943S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 10 - - ATP7B Gly1267Arg G1267R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - ATP7B His714Gln H714Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - ATP7B His1069Gln H1069Q pathogenic Insufficiently evaluated pathogenic recessive Array 9 10216 0.000880971 0 0 0 1 1 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y -1 - 6 N 10 - - This variant is associated with Wilson Disease ATP7B Leu708Pro L708P pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 2 0 - - - - - - 5 Y 4 Y 3 Y Y Y - - 0.025 Y Y 7 Y 4 N 10 2 1 ATP7B Met645Arg M645R pathogenic Insufficiently evaluated pathogenic unknown Array 3 9836 0.000305002 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.302 Y Y 4 Y 5 N 10 - - ATP7B Thr766Arg T766R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 9 - - ATP8B1 Arg602Stop R602X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ATP8B1 Arg867Cys R867C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - ATP8B1 Asp70Asn D70N pathogenic Insufficiently evaluated pathogenic unknown Array rs34719006 22 10754 0.00204575 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y -1 - 6 N 3 - - ATP8B1 Asp554Asn D554N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -1 - 6 N 10 - - ATP8B1 Gly308Val G308V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 10 - - ATP8B1 Gly892Arg G892R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 5 - - ATP8B1 Ile661Thr I661T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 10 - - ATP8B1 Leu288Ser L288S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.871 Y Y 6 Y 6 N 4 - - ATP8B1 Thr456Met T456M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 7 - - ATPAF2 Trp94Arg W94R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - ATRX Arg37Stop R37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - ATRX Arg129Cys R129C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - ATRX Arg246Cys R246C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - ATRX Arg1272Gln R1272Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - ATRX Arg1528Stop R1528X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ATRX Arg1742Lys R1742K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 1 - - ATRX Arg2271Gly R2271G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - ATRX Asn1002Ser N1002S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - ATRX Asp1177Val D1177V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - ATRX Cys220Tyr C220Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - ATRX Cys755Arg C755R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - ATRX Glu1530Stop E1530X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ATRX His750Arg H750R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - ATRX Ile2052Thr I2052T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - ATRX Leu409Ser L409S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - ATRX Lys792Asn K792N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - ATRX Pro73Ala P73A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - ATRX Pro852Ser P852S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - ATRX Ser79Stop S79X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ATRX Thr1621Met T1621M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - ATRX Tyr1226His Y1226H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - ATRX Tyr1305Cys Y1305C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - AUH Arg197Stop R197X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AURKC Cys229Tyr C229Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - AVP Cys61Tyr C61Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 4 - - AVP Cys67Stop C67X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - AVP Cys116Gly C116G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y - 7 Y 5 N - - AVP Glu82Stop E82X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - AVP Gly17Val G17V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 7 - - AVP Gly23Arg G23R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - AVP Gly23Val G23V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - AVP Gly57Ser G57S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 9 - - AVP Gly62Trp G62W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - AVP Gly65Val G65V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - AVP Pro7Leu P7L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.021 Y - 7 Y 3 N 10 - - AVP Ser56Phe S56F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y - 5 Y 5 N 4 - - AVP Tyr2His Y2H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - AVP Val67Ala V67A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.157 Y - 2 - 3 N 4 - - AVPR2 Ala132Asp A132D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 8 - - AVPR2 Arg104Cys R104C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 7 - - AVPR2 Arg113Trp R113W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - AVPR2 Arg137Cys R137C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - AVPR2 Arg137His R137H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - AVPR2 Arg137Leu R137L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - AVPR2 Arg181Cys R181C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y Y 8 Y 6 N 10 - - AVPR2 Arg203Cys R203C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 2 - - AVPR2 Arg337Stop R337X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - AVPR2 Asp85Asn D85N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - AVPR2 Gly185Cys G185C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.112 Y Y 7 Y 4 N 10 - - AVPR2 Gly201Asp G201D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - AVPR2 Ile46Lys I46K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.063 Y Y 6 Y 4 N 9 - - AVPR2 Phe105Val F105V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 3 - 6 N 9 - - AVPR2 Trp71Stop W71X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - AVPR2 Tyr205Cys Y205C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - AVPR2 Tyr280Cys Y280C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.431 Y Y 6 Y 5 N 8 - - AXIN2 Arg656Stop R656X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - AXIN2 Glu706Stop E706X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - AXIN2 Leu688Stop L688X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - B2M Ala11Pro A11P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.024 - - 2 - 2 N - - B3GALT3 Arg271Gly R271G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - B3GALT3 Glu266Ala E266A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - B4GALT7 Ala186Asp A186D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.931 - - 5 Y 4 N - - B4GALT7 Arg270Cys R270C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - B4GALT7 Leu206Pro L206P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.049 - - 7 Y 2 N - - BAAT Met76Val M76V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 2 - - BAG3 Pro209Leu P209L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 2 - - BARD1 Cys557Ser C557S pathogenic Insufficiently evaluated pathogenic unknown Array rs28997576 172 10758 0.0159881 2 0 2 0 0 - - - - - - - - - - - - - Y - - 0.464 - - 3 - 3 N - - BAX Gly67Arg G67R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.234 - - 6 Y 3 N - - BBS1 Glu234Lys E234K pathogenic Insufficiently evaluated pathogenic unknown Array rs35520756 369 10758 0.0343001 2 0 2 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 4 - - BBS1 Glu549Stop E549X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - BBS1 Leu518Pro L518P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.008 Y Y 7 Y 4 N 3 - - BBS12 Ala289Pro A289P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y 2 - 6 N 2 - - BBS12 Arg355Stop R355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - BBS2 Arg216Stop R216X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - BBS2 Arg275Stop R275X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - BBS2 Arg315Trp R315W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 1 - - BBS2 Arg634Pro R634P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - BBS2 Asn70Ser N70S not reviewed Insufficiently evaluated not reviewed recessive Array 0 0 0 1 1 2 Y - - - - - - - - - - Y Y - - 0.011 Y Y 0 - 4 N 7 - - This variant was found in a heterozygous state in a family with Bardet Biedl Syndrome together with BBS6 Y37C homozygosity. The BBS6 variant segregated with disease while the BBS2 variant did not. It is not known whether this variant is causative in a homozygous manner. BBS2 Asp104Ala D104A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 5 - - BBS2 Gln59Stop Q59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BBS2 Gly139Val G139V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 2 - - BBS2 Thr560Ile T560I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - BBS2 Tyr24Stop Y24X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BBS2 Val75Gly V75G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y Y 8 Y 6 N 3 - - BBS4 Ala364Glu A364E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y Y 3 - 6 N 8 - - BBS4 Arg295Pro R295P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - BBS5 Gly72Ser G72S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.865 Y Y 2 - 6 N - - BBS5 Leu142Stop L142X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BBS5 Thr183Ala T183A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.865 Y Y 1 - 6 N - - BBS5 Trp59Stop W59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BBS7 His323Arg H323R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.055 Y Y 1 - 4 N 5 - - BBS7 Thr211Ile T211I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y Y 3 - 6 N 8 - - BCAM Arg121Stop R121X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - BCAM Arg231Stop R231X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - BCAM Cys237Stop C237X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - BCAM His77Arg H77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - BCHE Ala539Thr A539T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - BCHE Asp70Gly D70G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - BCHE Glu497Val E497V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - BCHE Gly390Val G390V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - Y - Y - - - 8 Y 3 N - - BCHE Leu330Ile L330I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - BCHE Leu335Pro L335P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.982 - - 7 Y 4 N - - BCHE Thr243Met T243M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - Y - Y - - - 2 - 3 N - - BCHE Tyr128Cys Y128C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - BCKDHA Arg220Trp R220W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - BCKDHA Cys219Trp C219W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - BCKDHA Gly204Ser G204S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 0 - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 3 - - BCKDHA Gly245Arg G245R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 Y 9 - - BCKDHA Phe364Cys F364C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - BCKDHA Thr265Arg T265R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - BCKDHA Tyr393Asn Y393N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - BCKDHB Arg183Pro R183P pathogenic Insufficiently evaluated pathogenic recessive Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 1.0 Y Y 5 Y 6 N 10 - - Maple Syrup Urine Disease BCKDHB His156Tyr H156Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - BCKHDB Val69Gly V69G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - BCL10 Arg58Gly R58G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.967 - - 6 Y 4 N - - BCL10 Arg58Stop R58X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - BCOM1 Thr170Met T170M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - BCOR Arg976Stop R976X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BCOR Pro85Leu P85L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - BCP Gly79Arg G79R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - BCP Pro264Ser P264S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - BCP Ser214Pro S214P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - BCS1L Arg45Cys R45C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - BCS1L Arg56Stop R56X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - BCS1L Arg155Pro R155P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - BCS1L Arg183His R183H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 1 - 5 N 5 - - BCS1L Arg184Cys R184C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 8 Y 5 N 8 - - BCS1L Gly35Arg G35R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y - 6 Y 5 N 6 - - BCS1L Pro99Leu P99L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 9 - - BCS1L Ser78Gly S78G pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - 5 Y Y Y - - 0.174 Y - 2 - 3 N 10 - - BCS1L Ser277Asn S277N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y - 0 - 5 N 10 - - BCS1L Thr50Ala T50A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y - 1 - 5 N 3 - - BCS1L Val353Met V353M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.153 Y - 0 - 3 N 9 - - BDNF Thr2Ile T2I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - BEST1 Ala146Lys A146K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - BEST1 Ala243Val A243V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 2 - 6 N 10 - - BEST1 Arg47His R47H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y Y 1 - 6 N 4 - - BEST1 Arg141His R141H pathogenic Insufficiently evaluated pathogenic unknown Array 2 10102 0.00019798 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 7 - - BEST1 Arg200Stop R200X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - BEST1 Glu119Gln E119Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.782 Y Y -2 - 5 N 8 - - BEST1 Gly299Glu G299E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BEST1 Leu41Pro L41P pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.503 Y Y 7 Y 5 N 5 - - BEST1 Thr6Pro T6P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.249 Y Y 4 Y 5 N 10 - - BEST1 Trp93Cys W93C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - BEST1 Tyr29Stop Y29X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - BEST1 Tyr85His Y85H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - BEST1 Tyr227Asn Y227N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - BEST1 Tyr236Cys Y236C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 8 - - BEST1 Val9Met V9M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 0 - 6 N 10 - - BEST1 Val86Met V86M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 6 - - BEST1 Val239Met V239M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 6 - - BEST1 Val317Met V317M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 3 - - BFSP2 Arg287Trp R287W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - BHLHE41 Pro385Arg P385R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - BIN1 Asp151Asn D151N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 4 - - BIN1 Lys35Asn K35N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 1 - 5 N 5 - - BIN1 Lys575Stop K575X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - BIRC4 Glu118Stop E118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - BMP15 Ala180Thr A180T benign Low clinical importance, Uncertain benign unknown Array 1 92 0.0108696 1 0 1 3 3 1 Y 2 Y 1 Y 0 - - - - - - Y - - - - - 1 - 3 N 9 0 0 Probably benign. Initially reported to be associated with premature ovarian failure, but later findings in controls weakened this hypothesis (no longer statistically significant) and functional studies failed to find any deleterious effect for this variant. BMP15 Arg68Trp R68W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - BMP15 Arg76Cys R76C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - BMP15 Glu211Stop E211X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - BMP15 Tyr235Cys Y235C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - BMP4 Ala346Val A346V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.165 - - 2 - 2 N - - BMP4 Arg287His R287H pathogenic Low clinical importance, Uncertain pathogenic dominant Array 14 10758 0.00130136 1 0 1 2 1 ! Y - - 0 Y 1 Y 3 Y 5 Y - Y - - 0.001 - - 1 - 2 N 0 0 Seen in a single Pennsylvania father/son pain associated with cleft lip & palate or less dramatic microform or orbicularis oris muscle defects in a dominant manner. The variant is extremely rare (around .1% allele frequency) and so the case/control data fails to establish statistical significance. BMP4 Glu93Gly E93G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - BMP4 Ser91Cys S91C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.985 - - 3 - 4 N - - BMPR1A Ala338Asp A338D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.769 Y Y 5 Y 5 N 10 - - BMPR1A Cys124Arg C124R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 8 Y 6 N 10 - - BMPR1A Cys376Tyr C376Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BMPR1A Gln239Stop Q239X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - BMPR1A Met470Thr M470T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 8 - - BMPR1A Trp271Stop W271X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - BMPR1B Arg486Gln R486Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 0 - 4 N 10 - - BMPR1B Arg486Trp R486W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N 10 - - BMPR1B Ile200Lys I200K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 6 Y 4 N 10 - - BMPR2 Arg211Stop R211X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BMPR2 Arg332Stop R332X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - BMPR2 Arg491Gln R491Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - BMPR2 Arg491Trp R491W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - BMPR2 Arg873Stop R873X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - BMPR2 Arg899Pro R899P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 10 - - BMPR2 Arg899Stop R899X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BMPR2 Asp485Gly D485G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - BMPR2 Cys118Trp C118W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - BMPR2 Cys123Arg C123R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 4 - - BMPR2 Cys123Ser C123S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 5 - - BMPR2 Cys169Stop C169X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - BMPR2 Cys347Tyr C347Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BMPR2 Gln433Stop Q433X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - BMPR2 Gly182Asp G182D pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.84 Y Y 4 Y 5 N 5 - - BMPR2 Ser73Stop S73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - BMPR2 Tyr40Stop Y40X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - BPGM Arg89Cys R89C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - BRAF Ala246Pro A246P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.932 Y Y 2 - 6 N 3 - - BRAF Arg462Ile R462I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.046 Y Y 7 Y 4 N 10 - - BRAF Asn581Asp N581D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.828 Y Y -1 - 5 N 1 - - BRAF Asp594Gly D594G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - BRAF Asp638Glu D638E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -2 - 6 N 1 - - BRAF Gln257Arg Q257R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.413 Y Y 0 - 5 N 10 - - BRAF Glu501Gly E501G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BRAF Glu501Lys E501K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 0 - 6 N 4 - - BRAF Gly464Glu G464E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BRAF Gly466Val G466V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 8 Y 6 N 10 - - BRAF Gly469Ala G469A pathogenic Low clinical importance, Uncertain pathogenic unknown Array 0 0 0 1 1 3 Y 2 Y - Y ! Y 3 Y 1 Y Y Y - - 0.902 Y Y 1 - 6 N 10 0 0 BRAF (B-Raf proto-oncogene serine/threonine-protein kinase) G469A is a missense mutation within exon 11 of the BRAF gene. It is due to a mutation at nucleotide 1406 (GGA-->GCA) that lead to a an amino acid change from glycine to alanine ( G469A). BRAF mutations are present in numerous cancers, in about 15% of all tumors and at least one type of mutation is seen in about 90% of all malignant melanoma tumors. G469 is part of the tip of a glycine-rich loop that coordinates the active siteon BRAF which is involved with holding the protein in a stable confromation . A G-->A at residue position 469 interrupts the stable interaction of the activation segment and the inhibited (steady) state of the kinase. Thus, the disruption leads to new interactions that fold the kinase into a constitutively active state and results in unregulated cell activitiy. In general, the P loop and the activation loop are common mutational sites; such driver (activating) mutations identified in cancers are of high clinical utility because they can be targeted with drugs. BRAF Gly469Arg G469R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BRAF Gly469Glu G469E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BRAF Gly534Arg G534R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.542 Y Y 6 Y 5 N 3 - - BRAF Ile463Ser I463S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.808 Y Y 5 Y 5 N 10 - - BRAF Leu485Phe L485F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.23 Y Y 0 - 5 N 7 - - BRAF Leu597Arg L597R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 10 - - BRAF Leu597Val L597V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.395 Y Y 0 - 5 N 10 - - BRAF Lys499Glu K499E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.755 Y Y 0 - 5 N 8 - - BRAF Lys601Glu K601E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.88 Y Y 0 - 6 N 10 - - BRAF Val600Glu V600E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.876 Y Y 5 Y 6 N 10 - - BRCA1 Arg71Gly R71G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - BRCA1 Arg841Trp R841W benign Low clinical importance, Uncertain benign undefined Array 29 10758 0.00269567 0 0 0 1 1 1 Y - - 2 Y - - - - - - Y Y - - 0.017 Y Y 7 Y 4 N 10 0 0 Other variants in this gene are associated with breast and ovarian cancer. A 1996 paper proposed this variant as causing increased risk, but their observations lacked statistical significance and no later publications have supported that hypothesis. BRCA1 Arg1203Stop R1203X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BRCA1 Arg1443Gly R1443G pathogenic High clinical importance, Uncertain pathogenic unknown Array 0 0 0 3 3 - - - - - - 0 - 4 - 4 - Y Y - - 0.885 Y Y 6 Y 6 N 10 2 0 BRCA1 Arg1443Stop R1443X pathogenic High clinical importance, Uncertain pathogenic unknown Array 0 0 0 3 3 - - - - - - 0 - 4 - 4 - Y Y - - - Y Y 10 Y 6 N 10 2 0 BRCA1 Cys61Gly C61G pathogenic High clinical importance, Uncertain pathogenic unknown Array 0 0 0 5 5 1 Y 1 - - - 0 - 4 - 4 - Y Y - - 1.0 Y Y 7 Y 6 N 10 2 0 BRCA1 Cys64Gly C64G pathogenic High clinical importance, Uncertain pathogenic unknown Array 0 0 0 3 3 - - - - - - 3 - 4 - 4 - Y Y - - 1.0 Y Y 7 Y 6 N 10 2 0 BRCA1 Glu1250Stop E1250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BRCA1 Met1775Arg M1775R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - BRCA1 Met1775Lys M1775K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - BRCA1 Ser766Stop S766X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 4 3 1 Y 1 - - - - - 4 - 4 - Y Y - - - Y Y 10 Y 6 N - - BRCA1 Ser915Stop S915X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 1 Y 1 - - - - - 4 - 4 - Y Y - - - Y Y 10 Y 6 N - - BRCA1 Ser1040Asn S1040N pathogenic Insufficiently evaluated pathogenic unknown Array rs4986852 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.024 Y Y 0 - 4 N 10 - - BRCA1 Tyr1853Stop Y1853X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BRCA2 Gln3066Stop Q3066X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BRCA2 Glu1550Stop E1550X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - BRCA2 Leu2510Pro L2510P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - BRCA2 Leu2740Stop L2740X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - BRCA2 Ser1882Stop S1882X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BRCA2 Thr2722Arg T2722R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - BRIP1 Arg798Stop R798X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BRIP1 Met299Ile M299I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y Y -1 - 6 N 10 - - BRIP1 Pro47Ala P47A pathogenic High clinical importance, Uncertain pathogenic dominant Array 3 10758 0.000278862 0 0 0 0 0 - - - - 0 Y 0 Y 4 - 4 - Y Y - - 0.999 Y Y 2 - 6 N 10 2 0 Some sources report this in ClinVar as a likely pathogenic cause of familial breast cancer and ovarian cancer (acting in a dominant manner); however others report it as having uncertain significance (unclear whether it is or is not a cause): http://www.ncbi.nlm.nih.gov/clinvar/variation/4736/ The only publication linked is from 2001, which found this heterozygous in 1 of 86 cases and not in 200 controls – this has no statistical significance, and no further study of that patient's family was done. BRWD3 Lys1596Glu K1596E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.08 - - 0 - 2 N - - BSCL2 Ala212Pro A212P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 Y Y 2 - 6 N 10 - - BSCL2 Arg138Stop R138X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - BSCL2 Arg275Stop R275X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BSCL2 Asn88Ser N88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - BSCL2 Glu189Stop E189X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BSCL2 Ser90Leu S90L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.907 Y Y 6 Y 6 N 10 - - BSG Glu92Lys E92K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - BSND Arg8Leu R8L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - BSND Arg8Trp R8W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - BSND Glu4Stop E4X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - BSND Gly10Ser G10S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y - 2 - 5 N 10 - - BSND Gly47Arg G47R pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 6 Y 5 N 10 - - BSND Ile12Thr I12T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 3 - 5 N 10 - - BSND Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 10 - - BSND Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - -3 - 5 N 7 - - BTD Arg79Cys R79C pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y Y - - 1.0 Y Y 8 Y 6 N 10 - - BTD Arg538Cys R538C pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y Y - - 1.0 Y Y 8 Y 6 N 10 - - Biotinidase Deficiency BTD Asn489Thr N489T pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y Y - - 0.133 Y Y 1 - 4 N 6 - - BTD Asp252Gly D252G pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y Y - - 0.285 Y Y 4 Y 5 N 4 - - Biotinidase Deficiency BTD Gln456His Q456H pathogenic Insufficiently evaluated pathogenic recessive Array 11 10758 0.00102249 0 0 0 4 4 1 Y - - - - - - 4 Y 5 Y Y Y - - 0.998 Y Y -1 - 6 N 10 - - Biotinidase Deficiency BTD Gly34Ser G34S pathogenic Insufficiently evaluated pathogenic recessive Array 1 10758 9.2954e-05 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y Y - - 0.001 Y Y 2 - 4 N 10 - - BTD Thr532Met T532M pathogenic Insufficiently evaluated pathogenic recessive Array 2 10742 0.000186185 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y Y - - 0.999 Y Y 2 - 6 N 1 - - BTK Ala607Asp A607D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y Y 5 Y 4 N 1 - - BTK Arg13Stop R13X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BTK Arg28His R28H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - BTK Arg255Stop R255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - BTK Arg288Trp R288W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - BTK Arg307Gly R307G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BTK Arg520Gln R520Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 6 - - BTK Arg520Stop R520X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - BTK Arg525Gln R525Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.929 Y Y 0 - 6 N 10 - - BTK Arg562Pro R562P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 5 - - BTK Arg562Trp R562W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - BTK Cys502Stop C502X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BTK Cys506Arg C506R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 1 - - BTK Gln15Stop Q15X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - BTK Glu240Stop E240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BTK Glu589Gly E589G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - BTK Glu636Stop E636X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BTK Gly613Asp G613D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 4 - - BTK Leu408Pro L408P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 2 - - BTK Leu542Pro L542P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.546 Y Y 7 Y 5 N - - BTK Leu652Pro L652P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 7 Y 4 N 1 - - BTK Lys430Glu K430E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - BTK Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - BTK Met630Lys M630K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N - - BTK Thr33Pro T33P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.181 Y Y 4 Y 4 N 10 - - BTK Trp252Stop W252X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BTK Tyr334Ser Y334S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - BTK Tyr361Cys Y361C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - BTK Tyr375Stop Y375X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - BTK Tyr425Stop Y425X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - BTK Tyr581Arg Y581R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - BTK Tyr591Stop Y591X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - BTK Val113Asp V113D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 10 - - BUB1 Ser492Tyr S492Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.831 - - 5 Y 3 N - - BUB1B Arg194Stop R194X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - BUB1B Arg550Gln R550Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - BUB1B Arg814His R814H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - BUB1B Gln921His Q921H pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - BUB1B Leu844Phe L844F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - BUB1B Leu1012Pro L1012P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - BUB1B Thr40Met T40M pathogenic Insufficiently evaluated pathogenic unknown Array rs56079734 258 10758 0.0239822 3 0 3 2 2 5 Y 1 Y 0 - 0 - - - - - - Y - - - - - 2 - 3 N 3 - - This variant was found in colorectal and renal carcinoma cell lines. C10ORF2 Ala359Thr A359T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - C10ORF2 Ala475Pro A475P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - C10ORF2 Arg303Gln R303Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - C10ORF2 Arg334Gln R334Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - C10ORF2 Arg354Pro R354P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - C10ORF2 Leu381Pro L381P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - C10ORF2 Lys319Glu K319E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - C10ORF2 Ser369Tyr S369Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - C10ORF2 Thr457Ile T457I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 6 - - C10ORF2 Trp315Leu W315L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - C10ORF2 Trp474Cys W474C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - C12ORF58 Arg34Pro R34P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N - - C12ORF58 Ser311Ala S311A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 1 - - C12ORF58 Val11Gly V11G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N - - C1GALT1C1 Arg68Stop R68X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C1GALT1C1 Glu152Lys E152K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 0 - 4 N - - C1NH Ala436Thr A436T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 1 - - C1NH Ala443Val A443V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N - - C1NH Arg444Cys R444C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 5 - - C1NH Arg444His R444H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 5 - - C1NH Arg444Ser R444S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 1 - - C1NH Tyr199Stop Y199X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - C1NH Val432Glu V432E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N - - C1QA Gln186Stop Q186X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C1QTNF5 Ser163Arg S163R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.977 - - 3 - 4 N - - C1S Arg534Stop R534X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C2 Glu318Asp E318D pathogenic Insufficiently evaluated pathogenic unknown Array rs9332739 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - C2 Gly444Arg G444R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - C2 Ser189Phe S189F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - C20ORF7 Leu229Pro L229P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - C2ORF25 Arg54Stop R54X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - C2ORF25 Arg250Stop R250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - C2ORF25 Leu259Pro L259P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - C2ORF25 Thr182Asn T182N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N - - C2ORF25 Tyr249Cys Y249C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N - - C3 Ala1072Val A1072V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - C3 Arg570Gln R570Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - C3 Asp1093Asn D1093N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 3 - - C3 Leu314Pro L314P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 8 - - C3 Tyr832Stop Y832X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - C5 Arg1458Stop R1458X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C5 Gln84Stop Q84X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C6 Glu98Ala E98A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.508 - - 3 - 3 N - - C6ORF66 Leu65Pro L65P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 1 - - C7 Arg499Ser R499S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - C7 Cys464Stop C464X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C7 Cys728Stop C728X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C7 Gly357Arg G357R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - C7ORF10 Arg108Stop R108X pathogenic Insufficiently evaluated pathogenic unknown Array 1 9524 0.000104997 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C7ORF10 Arg142Stop R142X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C7ORF10 Arg299Trp R299W pathogenic Insufficiently evaluated pathogenic unknown Array 52 9400 0.00553191 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - C8B Arg374Stop R374X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C8ORF38 Gln99Arg Q99R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - C9 Arg95Stop R95X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C9 Cys33Stop C33X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - C9 Cys98Gly C98G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - C9 Ser406Stop S406X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CA1 Arg246His R246H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - CA1 Gly253Arg G253R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - CA2 Asn252Asp N252D pathogenic Insufficiently evaluated pathogenic unknown Array rs2228063 323 10758 0.0300242 6 0 6 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 4 - - CA2 His107Tyr H107Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 9 - - CA2 Lys17Glu K17E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - CA2 Pro237His P237H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - CA2 Tyr40Stop Y40X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CA4 Arg14Trp R14W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10482 9.5401e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 7 Y 5 N 10 - - CA4 Arg69His R69H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.619 Y - 1 - 4 N 10 - - CA4 Arg219Ser R219S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 9 - - CABC1 Arg213Trp R213W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - CABC1 Glu551Lys E551K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - CABC1 Gly272Asp G272D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - CABC1 Gly272Val G272V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - CABC1 Gly549Ser G549S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - CABC1 Tyr514Cys Y514C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - CABP4 Arg124Cys R124C pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - CACNA1A Arg192Gln R192Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.939 Y Y 0 - 6 N 10 - - CACNA1A Arg583Gln R583Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CACNA1A Arg1281Stop R1281X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CACNA1A Arg1347Gln R1347Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CACNA1A Arg1549Stop R1549X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CACNA1A Arg1666His R1666H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - CACNA1A Arg1820Stop R1820X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - CACNA1A Asp715Glu D715E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.947 Y Y -2 - 6 N 10 - - CACNA1A Cys287Tyr C287Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - CACNA1A Glu1757Lys E1757K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - CACNA1A Gly293Arg G293R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - CACNA1A Ile1710Thr I1710T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - CACNA1A Ile1811Leu I1811L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - CACNA1A Phe1406Cys F1406C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - CACNA1A Phe1491Ser F1491S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - CACNA1A Ser218Leu S218L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 10 - - CACNA1A Thr666Met T666M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - CACNA1A Tyr1385Cys Y1385C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - CACNA1A Val714Ala V714A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.897 Y Y 2 - 6 N 10 - - CACNA1A Val1457Leu V1457L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CACNA1C Ala39Val A39V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.707 Y Y 2 - 5 N 10 - - CACNA1C Gly402Ser G402S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.902 Y Y 2 - 6 N 10 - - CACNA1C Gly406Arg G406R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.928 Y Y 6 Y 6 N 10 - - CACNA1C Gly490Arg G490R pathogenic High clinical importance, Uncertain pathogenic dominant Array 2 10084 0.000198333 0 0 0 2 2 0 Y - - 0 Y - - 4 Y 4 Y Y Y - - 0.013 Y Y 6 Y 4 N 10 2 0 This rare variant has been reported to cause Brugada syndrome (a major cause of sudden unexplained death) with shorter than normal QT intervals. A single patient with Turkish ancestry was reported, and no controls mentioned. Observations associating this variant with the disease have not been statistically significant, although this could be due to the rarity of the variant. CACNA1F Arg830Stop R830X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CACNA1F Arg958Stop R958X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - CACNA1F Gly369Asp G369D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - CACNA1F Ile745Thr I745T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - CACNA1H Glu282Lys E282K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.981 - - 0 - 4 N - - CACNA1H Phe161Leu F161L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - CACNA1H Pro618Leu P618L pathogenic Insufficiently evaluated pathogenic unknown Array 4 9586 0.000417275 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - CACNA1H Val831Met V831M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.555 - - 0 - 3 N - - CACNA1S Arg528His R528H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - CACNA1S Arg897Ser R897S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - CACNA1S Arg1086His R1086H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - CACNA1S Arg1239Gly R1239G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - CACNA1S Arg1239His R1239H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - CACNB2 Ser481Leu S481L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - CACNB4 Arg482Stop R482X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CACNB4 Cys104Phe C104F pathogenic Insufficiently evaluated pathogenic unknown Array 5 9894 0.000505356 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - CALCR Pro463Leu P463L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - CAPN3 Arg110Stop R110X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CAPN3 Arg490Gln R490Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CAPN3 Arg572Gln R572Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CAPN3 Arg769Gln R769Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - CAPN3 Pro319Leu P319L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.41 Y Y 7 Y 5 N 9 - - CAPN3 Ser86Phe S86F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 8 - - CARD15 Ala612Thr A612T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 10 - - CARD9 Gln295Stop Q295X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CART Leu34Phe L34F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - CASK Arg28Leu R28L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - CASK Arg639Stop R639X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CASK Asp710Gly D710G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.987 - - 4 Y 4 N - - CASK Pro396Ser P396S pathogenic Insufficiently evaluated pathogenic unknown Array 2 8761 0.000228284 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 3 - 2 N - - CASK Trp914Arg W914R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - CASK Tyr268His Y268H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.254 - - -1 - 3 N - - CASP10 Ala414Val A414V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.487 Y Y 2 - 5 N 2 - - CASP10 Gln257Stop Q257X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CASP10 Ile406Leu I406L pathogenic Insufficiently evaluated pathogenic unknown Array 27 10758 0.00250976 1 0 2 0 0 - - - - - - - - - - - - Y Y - - 0.548 Y Y -2 - 5 N 7 - - CASP10 Leu285Phe L285F pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 8 - - CASP10 Met147Thr M147T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 2 - 6 N 2 - - CASP8 Arg248Trp R248W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - CASQ2 Asp307His D307H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - CASQ2 Leu167His L167H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - CASR Ala116Thr A116T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.86 Y - 1 - 5 N 8 - - CASR Ala843Glu A843E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.906 Y - 3 - 5 N 10 - - CASR Arg63Met R63M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - CASR Arg67Cys R67C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - CASR Arg185Gln R185Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - CASR Arg185Stop R185X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - CASR Arg227Gln R227Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.797 Y - 0 - 4 N 10 - - CASR Arg227Leu R227L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.843 Y - 6 Y 4 N 10 - - CASR Arg228Gln R228Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - CASR Arg465Gln R465Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.902 Y - 0 - 5 N 8 - - CASR Arg648Stop R648X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CASR Arg796Trp R796W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 8 - - CASR Arg898Gln R898Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 0 - 5 N - - CASR Asn118Lys N118K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y - 1 - 5 N 10 - - CASR Cys141Trp C141W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - CASR Cys582Phe C582F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 5 - - CASR Cys582Tyr C582Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 8 - - CASR Glu128Ala E128A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - CASR Glu191Lys E191K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.926 Y - 0 - 5 N 8 - - CASR Glu298Lys E298K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - CASR Glu604Lys E604K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.902 Y - 0 - 5 N 10 - - CASR Glu681His E681H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - CASR Gly94Stop G94X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CASR Gly144Glu G144E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - CASR Gly553Arg G553R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 6 Y 5 N 8 - - CASR Gly670Glu G670E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 6 Y 5 N 2 - - CASR Leu13Pro L13P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.025 Y - 7 Y 3 N 10 - - CASR Leu125Pro L125P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y - 7 Y 5 N 10 - - CASR Leu616Val L616V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y - 0 - 3 N 3 - - CASR Leu727Gln L727Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.899 Y - 5 Y 5 N 5 - - CASR Leu773Arg L773R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.806 Y - 6 Y 4 N 5 - - CASR Lys47Asn K47N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.819 Y - 1 - 4 N 10 - - CASR Phe128Leu F128L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 10 - - CASR Phe180Cys F180C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.727 Y - 4 Y 4 N 7 - - CASR Phe612Ser F612S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 5 Y 5 N 10 - - CASR Phe788Cys F788C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 4 Y 5 N 7 - - CASR Phe788Leu F788L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.601 Y - 0 - 4 N 7 - - CASR Phe806Ser F806S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 5 Y 5 N 5 - - CASR Phe881Leu F881L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.852 Y - 0 - 5 N 7 - - CASR Pro40Ala P40A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - CASR Ser820Phe S820F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 5 Y 5 N 3 - - CASR Thr139Met T139M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - CASR Thr151Met T151M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 2 - 5 N 10 - - CAV1 Glu38Stop E38X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CAV3 Ala46Thr A46T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 9 - - CAV3 Ala46Val A46V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 2 - 6 N 3 - - CAV3 Ala85Thr A85T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.959 Y Y 1 - 6 N 8 - - CAV3 Ala93Thr A93T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 1 - - CAV3 Arg27Gln R27Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CAV3 Asn33Lys N33K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 1 - - CAV3 Asp28Glu D28E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.901 Y Y -2 - 6 N - - CAV3 Cys72Trp C72W benign Low clinical importance, Uncertain benign unknown Array 16 10758 0.00148726 0 0 0 2 2 ! Y - - 3 Y - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 7 0 0 Initially proposed as possibly causing muscular dystrophy, but later study concluded the variant is a rare nonpathogenic polymorphism. CAV3 Glu47Lys E47K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N - - CAV3 Gly56Ser G56S pathogenic High clinical importance, Uncertain pathogenic recessive Array rs72546667 410 10758 0.0381112 5 0 5 3 3 2 Y ! Y 0 Y 0 Y 4 - 1 - Y Y - - 0.852 Y Y 2 - Limb-Girdle Muscular Dystrophy Type 1C 4 282 4 396 1.404 6 N 8 2 0 This variant has been implicated in causing limb-girdle dystrophy in a recessive manner, but it has only been seen homozygously once in a single patient and has been seen heterozygously in controls, so case/control data lacks significance. CAV3 Leu79Arg L79R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.284 Y Y 6 Y 5 N 10 - - CAV3 Leu87Pro L87P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.249 Y Y 7 Y 5 N 2 - - CAV3 Phe97Cys F97C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.821 Y Y 4 Y 5 N 10 - - CAV3 Pro29Leu P29L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N - - CAV3 Pro105Leu P105L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - CAV3 Ser141Arg S141R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 3 - 6 N 8 - - CAV3 Thr64Ser T64S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y -2 - 6 N 1 - - CAV3 Thr78Met T78M pathogenic High clinical importance, Uncertain pathogenic dominant Array 46 10758 0.00427589 0 0 0 2 2 0 Y ! Y 0 Y 0 Y 4 - 3 - Y Y - - 0.346 Y Y 2 - 5 N 10 2 0 This variant was implicated in causing Long QT-Syndrome (LQT9) and sudden infant death syndrome, but the evidence fails to reach significance and functional study failed to find a significance difference in biochemical behavior. CAV3 Val14Leu V14L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 0 - 4 N 10 - - CBS Ala114Val A114V pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 Y Y 2 - 4 N 10 - - CBS Arg266Lys R266K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.16 Y Y -3 - 4 N 10 - - CBS Asp444Asn D444N pathogenic Insufficiently evaluated pathogenic unknown Array 2 10644 0.000187899 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.399 Y Y -1 - 5 N 10 - - CBS Glu144Lys E144K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - CBS Gly139Arg G139R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - CBS Gly307Ser G307S pathogenic Insufficiently evaluated pathogenic recessive Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - 1 Y Y Y - - 0.988 Y Y 2 - 6 N 10 - - Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency CBS Leu539Ser L539S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y Y 6 Y 6 N 10 - - CBS Lys384Glu K384E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 0 - 6 N 10 - - CBS Pro145Leu P145L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CBS Pro422Leu P422L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.663 Y Y 7 Y 5 N 10 - - CBS Ser466Leu S466L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.047 Y Y 6 Y 4 N 10 - - CBS Thr191Met T191M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.884 Y Y 2 - 6 N 10 - - CBS Thr353Met T353M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10740 9.3109e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.024 Y Y 2 - 4 N 10 - - CBS Val168Met V168M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.026 Y Y 0 - 4 N 10 - - CBX2 Arg443Pro R443P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.006 - - 5 Y 2 N - - CBX2 Pro98Leu P98L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.977 - - 7 Y 4 N - - CC2D2A Arg950Stop R950X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CC2D2A Arg1528Cys R1528C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 2 - - CC2D2A Pro1122Ser P1122S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 2 - - CCKAR Gly21Arg G21R pathogenic Insufficiently evaluated pathogenic unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.292 - - 6 Y 3 N - - CCKAR Val365Ile V365I pathogenic Insufficiently evaluated pathogenic unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.589 - - -4 - 3 N - - CCM2 Gln107Stop Q107X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CCM2 Leu198Arg L198R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.588 Y Y 6 Y 5 N 6 - - CCM2 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - CCR5 Ala335Val A335V pathogenic Insufficiently evaluated pathogenic unknown Array rs1800944 129 10750 0.012 1 0 1 1 1 - - - - - - - - - - - - - Y - - - - - 2 - 3 N 9 - - CCR5 Arg60Ser R60S pathogenic Insufficiently evaluated pathogenic unknown Array rs1800940 11 10750 0.00102326 1 0 1 2 2 - - - - - - - - - - - - - Y - - 0.064 - - 3 - 2 N - - CCR5 Arg223Gln R223Q pathogenic Insufficiently evaluated pathogenic unknown Array rs1800452 12 10750 0.00111628 4 0 4 1 1 - - - - - - - - - - - - - Y - - 0.202 - - 0 - 3 N - - CCR5 Cys101Stop C101X pathogenic Insufficiently evaluated pathogenic unknown Array 10 10750 0.000930232 0 0 0 1 1 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - The CCR5-C101X allele confers resistance to infection by CCR5-dependent HIV in a recessive manner. Compound heterozygotes with the CCR5-delta32 allele are resistant. CCT5 His147Arg H147R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.06 - - 1 - 2 N - - CD247 Gln70Stop Q70X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CD36 Ile413Leu I413L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.175 Y - -2 - 3 N 1 - - CD36 Phe253Leu F253L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - CD36 Pro90Ser P90S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - CD3D Arg68Stop R68X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - CD3D Cys93Stop C93X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - CD3E Trp59Stop W59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CD3G Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 0 - 5 N 2 - - CD3Z Gln70Leu Q70L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - CD3Z Gln70Trp Q70W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - CD3Z Gln70Tyr Q70Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - CD40 Cys83Arg C83R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 3 - - CD40LG Ala123Glu A123E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 1 - - CD40LG Ala235Pro A235P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.515 Y Y 2 - 5 N - - CD40LG Gly227Val G227V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 1 - - CD40LG Leu155Pro L155P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N - - CD40LG Met36Arg M36R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 2 - - CD40LG Thr211Asp T211D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - CD40LG Trp140Gly W140G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - CD40LG Trp140Stop W140X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CD44 Arg46Gly R46G pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - CD55 Trp53Stop W53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CD79B Gly137Ser G137S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.111 - - 2 - 2 N - - CD8A Gly90Ser G90S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - CD96 Thr280Met T280M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.008 - - 2 - 2 N - - CDAN1 Arg1040Trp R1040W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - CDAN1 Asn598Ser N598S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - CDAN1 Phe866Ile F866I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - CDAN1 Pro671Leu P671L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.026 Y Y 7 Y 4 N 2 - - CDAN1 Pro1129Leu P1129L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - CDH1 Ala617Thr A617T pathogenic Insufficiently evaluated pathogenic unknown Array 175 10758 0.016267 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 7 - - CDH1 Ala634Val A634V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.548 Y Y 2 - 5 N 10 - - CDH1 Arg598Stop R598X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - CDH1 Gln699Stop Q699X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CDH1 Glu24Stop E24X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CDH1 Glu261Stop E261X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CDH1 Leu711Val L711V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.867 Y Y 0 - 6 N 1 - - CDH1 Ser838Gly S838G pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.008 Y Y 2 - 4 N 5 - - CDH1 Thr340Ala T340A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 1 - 4 N 10 - - CDH1 Trp20Stop W20X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - CDH1 Val832Met V832M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y 0 - 6 N 10 - - CDH15 Ala122Val A122V pathogenic High clinical importance, Uncertain pathogenic dominant Array 9 10758 0.000836586 0 0 0 1 1 1 Y 1 Y ! Y - - 4 - 1 - - Y - - 0.997 Y - 2 - 5 N 2 0 Hypothesized to cause intellectual disability in a dominant fashion, but findings had no statistical significance and were contracted by the presence of the same variant in the father of the patient, who was apparently unaffected. Cells expressing this variant gene demonstrated reduced cell-cell adhesion in a Ca2+ assay (which was the proposed mechanism causing intellectual disability). However the reported frequency of this variant in patients matches its frequency in the population on the whole (as measured by EVS data), which contradicts the pathogenic hypothesis. CDH15 Arg60Cys R60C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 Y - 8 Y 5 N - - CDH15 Arg92Trp R92W pathogenic Insufficiently evaluated pathogenic unknown Array 3 10748 0.000279121 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.967 Y - 7 Y 5 N - - CDH23 Arg301Gln R301Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10122 9.8794e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.943 Y Y 0 - 6 N 4 - - CDH23 Arg1746Gln R1746Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CDH23 Arg3189Trp R3189W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - CDH23 Asp1243Asn D1243N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - CDH23 Asp1341Asn D1341N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - CDH23 Asp1400Asn D1400N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - CDH23 Asp2148Asn D2148N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - CDH23 Gln492Stop Q492X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - CDH23 Gln1496His Q1496H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - CDH23 Phe1888Ser F1888S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - CDH23 Pro240Leu P240L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y 7 Y 6 N 1 - - CDH23 Thr1209Ala T1209A pathogenic Insufficiently evaluated pathogenic recessive Array 2 0 1 4 4 3 Y ! Y ! Y - - 4 Y 4 Y Y Y - - - Y Y 1 - Usher Syndrome Type 1 2 143 0 196 INF 5 N 8 - - This variant has been found in three individuals with Usher Syndrome (two homozygous), and is included in diagnostic tests for the disease. The variant frequency is high, however, in the African population. Usher syndrome is also known as Hallgren syndrome, Usher-Hallgren syndrome, rp-dysacusis syndrome, and dystrophia retinae dysacusis syndrome. People with Usher syndrome show deafness due to a defective inner ear and gradual blindness associated with retinal degeneration. CDH3 Arg503His R503H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 1 - 4 N 10 - - CDH3 Asn322Ile N322I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N - - CDK4 Arg24Cys R24C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - CDK4 Arg24His R24H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.179 Y - 1 - 3 N 10 - - CDK5RAP2 Ser81Stop S81X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 10 - - CDKL5 Ala40Val A40V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.786 Y - 2 - 4 N 2 - - CDKL5 Arg175Ser R175S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - CDKL5 Cys152Phe C152F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - CDKL5 Gln834Stop Q834X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - CDKL5 Ile72Thr I72T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 3 - 5 N 1 - - CDKN1B Trp76Stop W76X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - CDKN1C Glu47Stop E47X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CDKN1C Ser247Stop S247X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CDKN2A Ala94Glu A94E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - CDKN2A Arg24Pro R24P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - CDKN2A Arg232Stop R232X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - CDKN2A Gly89Asp G89D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - CDKN2A Gly101Trp G101W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - CDKN2A Gly122Arg G122R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - CDKN2A Gly259Ser G259S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - CDKN2A Met53Ile M53I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - CDKN2A Ser56Ile S56I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - CDKN2A Val59Gly V59G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - CDKN2A Val126Asp V126D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - CDSN Gln200Stop Q200X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CDSN Gln215Stop Q215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CEBPA Glu50Stop E50X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CEBPA His84Leu H84L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 2 - - CENPJ Glu1235Val E1235V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 5 Y 5 N 4 - - CEP290 Arg205Stop R205X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CEP290 Glu1903Stop E1903X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CEP290 Gly1890Stop G1890X pathogenic Insufficiently evaluated pathogenic unknown Array 1 9474 0.000105552 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - CEP290 Leu750Stop L750X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CEP290 Lys1575Stop K1575X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CEP290 Trp7Cys W7C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 5 - - CERKL Arg257Stop R257X pathogenic Insufficiently evaluated pathogenic unknown Array 5 10126 0.000493778 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CES1 Gly143Glu G143E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - CETP Asp442Gly D442G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - CETP Ile405Val I405V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 0 - - - - - - - - - - - - Y Y - Y - Y - -4 - 4 N 10 - - CFB Arg8Gln R8Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CFB Arg8Trp R8W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CFB Leu9His L9H protective Low clinical importance, Uncertain protective unknown Array rs4151667 6 128 0.046875 4 0 4 2 2 2 Y - - 3 Y 0 - - - - - Y Y - - 0.978 Y Y 6 Y 6 Y 8 0 0 This variant typically occurs along with E318D, forming the H10 haplotype. This variant appears to be protective; it was associated with a significantly lower incidence of age-related macular degeneration in an American study (OR = 0.45). CFB Lys323Glu K323E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 Y Y 0 - 4 N 8 - - CFB Phe286Leu F286L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CFC1 Arg112Cys R112C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 8 Y 4 N 5 - - CFD Ser42Stop S42X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CFH Arg127Leu R127L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 6 - - CFH Arg1078Ser R1078S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.897 Y Y 3 - 6 N 2 - - CFH Arg1210Cys R1210C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.21 Y Y 8 Y 5 N 10 - - CFH Arg1215Gly R1215G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - CFH Cys431Ser C431S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 3 - - CFH Cys536Arg C536R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 5 - - CFH Cys959Tyr C959Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 4 - - CFH Gln408Stop Q408X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CFH Glu189Stop E189X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CFH Glu1172Stop E1172X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - CFH Glu1198Stop E1198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CFH Ile62Val I62V pathogenic Low clinical importance, Likely pathogenic other Array 0 0 0 6 6 1 Y 1 Y 5 Y - Y 3 Y 2 - Y Y - - - Y Y -4 - 5 N 9 0 1 Homozygotes for this are estimated to have a 4-5% increased risk for age related macular degeneration (ARMD) (total risk of 12-13% compared to average lifetime of 8%). Heterozygotes have average or slightly lower risk, and non-carriers have 4-5% lower risk. ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk. CFH Leu1189Arg L1189R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.01 Y Y 6 Y 4 N 10 - - CFH Ser1191Leu S1191L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.092 Y Y 6 Y 4 N 10 - - CFH Tyr402His Y402H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - Y 0.093 Y Y -1 - 4 N 10 - - CFH Tyr899Stop Y899X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - CFI Arg317Trp R317W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 7 Y 4 N - - CFI Arg456Stop R456X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CFI Asp506Val D506V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - CFI Asp519Asn D519N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y -1 - 6 N - - CFI Gly243Asp G243D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 4 Y 6 N 4 - - CFI His400Leu H400L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - CFI Trp528Stop W528X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CFL2 Ala35Thr A35T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 3 - - CFTR Ala349Val A349V pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.028 Y Y 2 - 4 N 10 - - CFTR Ala445Glu A445E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - CFTR Ala455Glu A455E pathogenic Insufficiently evaluated pathogenic recessive Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 3 - 6 N 10 - - Cystic Fibrosis CFTR Ala554Glu A554E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 1 - - CFTR Ala559Thr A559T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 1 - 6 N 10 - - CFTR Ala561Glu A561E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - CFTR Ala1067Thr A1067T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N 9 - - CFTR Arg117His R117H pathogenic High clinical importance, Likely pathogenic recessive Array 14 10758 0.00130136 0 0 0 2 2 2 Y - - 4 Y - - 3 Y 4 Y Y Y - - 1.0 Y Y 1 - 6 N 10 2 1 This variant has a mild recessive effect. When combined with a more severe variant (e.g. F508Del), this variant can cause congenital bilateral absence of vans deferens (CBAVD, which causes male infertility) with moderate penetrance. Cystic fibrosis, however, appears to be extremely low penetrance. CFTR Arg334Trp R334W pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - Cystic Fibrosis CFTR Arg347His R347H pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - Cystic Fibrosis CFTR Arg347Leu R347L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - CFTR Arg347Pro R347P pathogenic Insufficiently evaluated pathogenic recessive Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - Cystic Fibrosis CFTR Arg352Gln R352Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CFTR Arg553Gln R553Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 10 - - CFTR Arg553Stop R553X pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Arg560Lys R560K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -3 - 6 N 10 - - CFTR Arg560Thr R560T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - CFTR Arg851Stop R851X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Arg1066Cys R1066C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - CFTR Arg1066His R1066H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - CFTR Arg1158Stop R1158X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Arg1162Stop R1162X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Arg1283Met R1283M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - CFTR Asn1303His N1303H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 3 - - CFTR Asn1303Lys N1303K pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - CFTR Asp110His D110H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 3 - 6 N 10 - - CFTR Asp648Val D648V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - CFTR Asp1270Asn D1270N pathogenic Insufficiently evaluated pathogenic unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 10 - - CFTR Cys524Stop C524X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Gln493Stop Q493X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Gln524His Q524H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - CFTR Gln552Stop Q552X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Gln890Stop Q890X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Gln1071Pro Q1071P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 9 - - CFTR Gln1238Stop Q1238X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Gln1291His Q1291H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y -1 - 6 N 10 - - CFTR Gln1313Stop Q1313X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - CFTR Gln1352His Q1352H pathogenic Insufficiently evaluated pathogenic unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - CFTR Glu7Stop E7X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Glu92Lys E92K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - CFTR Glu92Stop E92X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Glu217Gly E217G pathogenic Insufficiently evaluated pathogenic recessive Array 3 10758 0.000278862 0 0 0 1 1 3 Y 1 Y 2 Y - - 2 Y - - Y Y - - 0.227 Y Y 6 Y 5 Y 7 - - CFTR Glu827Stop E827X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CFTR Gly85Glu G85E pathogenic Insufficiently evaluated pathogenic recessive Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - Cystic Fibrosis CFTR Gly91Arg G91R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 6 Y 6 N 10 - - CFTR Gly458Val G458V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 5 - - CFTR Gly480Cys G480C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - CFTR Gly542Stop G542X pathogenic High clinical importance, pathogenic recessive Array 18 10758 0.00167317 0 0 0 1 1 3 Y - - 5 Y - - 4 - 1 - Y Y - - - Y Y 10 Y 6 N 10 2 2 This is the second most common variant that causes Cystic Fibrosis. It causes Cystic Fibrosis if homozygous or combined with another severely disruptive variant in this gene (e.g. F508Del). Severe variants in this gene can also cause bilateral absence of the vans deferens (causing male infertility) when combined with a less disruptive variant. CFTR Gly551Asp G551D pathogenic Insufficiently evaluated pathogenic unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - CFTR Gly551Ser G551S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - CFTR Gly576Ala G576A pathogenic High clinical importance, Likely pathogenic recessive Array rs1800098 51 10744 0.00474684 1 0 1 2 2 1 Y 1 Y 3 Y - - 3 Y 4 Y Y Y - - 0.294 Y Y 1 - 5 N 10 2 1 Associated with causing congenital bilateral absence of the vas deferens in a recessive manner. Reported cases were compound heterozygous with CFTR-F508Del. CFTR Gly1249Glu G1249E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 10 - - CFTR His949Tyr H949Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - CFTR His1085Arg H1085R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - CFTR His1282Stop H1282X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CFTR Ile506Val I506V pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y -4 - 6 N 10 - - CFTR Ile1234Val I1234V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y -4 - 4 N 10 - - CFTR Leu206Trp L206W pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.948 Y Y 5 Y 6 N 10 - - CFTR Leu997Phe L997F pathogenic Insufficiently evaluated pathogenic unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - CFTR Leu1065Pro L1065P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.858 Y Y 7 Y 6 N 10 - - CFTR Lys710Stop K710X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Lys716Stop K716X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CFTR Met470Val M470V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CFTR Phe311Leu F311L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - CFTR Phe508Cys F508C pathogenic Insufficiently evaluated pathogenic unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - CFTR Phe1286Ser F1286S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 4 - - CFTR Pro574His P574H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - CFTR Ser492Phe S492F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y Y 5 Y 6 N 10 - - CFTR Ser549Arg S549R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - CFTR Ser549Asn S549N pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 0 - 6 N 10 - - CFTR Ser549Ile S549I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - CFTR Ser912Leu S912L pathogenic Insufficiently evaluated pathogenic unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.008 Y Y 6 Y 4 N 10 - - CFTR Ser1251Asn S1251N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.865 Y Y 0 - 6 N 10 - - CFTR Ser1255Pro S1255P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.413 Y Y 3 - 5 N 10 - - CFTR Ser1255Stop S1255X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Ser1455Stop S1455X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Thr338Ile T338I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - CFTR Thr1220Ile T1220I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - CFTR Trp57Stop W57X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - CFTR Trp846Stop W846X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Trp1089Stop W1089X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Trp1204Stop W1204X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Trp1282Stop W1282X pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Trp1316Stop W1316X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Tyr109Cys Y109C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - CFTR Tyr563Asn Y563N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - CFTR Tyr913Cys Y913C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 6 Y 6 N 5 - - CFTR Tyr1092Stop Y1092X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CFTR Val520Phe V520F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 3 - 6 N 10 - - CHAT Arg420Cys R420C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - CHAT Arg482Gly R482G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - CHAT Arg560His R560H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - CHAT Glu441Lys E441K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - CHAT Ile305Thr I305T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 3 - 6 N 10 - - CHAT Ile1336Thr I1336T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - CHAT Leu210Pro L210P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CHAT Pro211Ala P211A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - CHAT Ser498Leu S498L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - CHAT Val506Leu V506L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.772 Y Y 0 - 5 N 10 - - CHD7 Arg2319Ser R2319S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 2 - - CHD7 Glu1271Stop E1271X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CHD7 Gly2108Arg G2108R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N - - CHD7 His55Arg H55R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.583 Y Y 1 - 5 N - - CHD7 Ile1028Val I1028V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.504 Y Y -4 - 5 N - - Arose de novo in patient with clinical dx of CHARGE and parents tested. Did not evaluate for non-paternity or non-maternity in the family, however. CHD7 Leu1257Arg L1257R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y Y 6 Y 6 N - - CHD7 Ser834Phe S834F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 4 - - CHD7 Trp2332Stop W2332X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CHD7 Tyr1806Stop Y1806X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CHEK2 Ala17Ser A17S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 2 - - CHEK2 Arg145Trp R145W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - CHEK2 Arg180His R180H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - CHEK2 Arg181Cys R181C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - CHEK2 Arg181His R181H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 6 - - CHEK2 Glu239Lys E239K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - CHEK2 Glu239Stop E239X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CHEK2 Ile157Thr I157T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - CHEK2 Pro85Leu P85L pathogenic Insufficiently evaluated pathogenic unknown Array rs17883862 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - CHEK2 Ser428Phe S428F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - CHIT1 Glu74Lys E74K pathogenic Insufficiently evaluated pathogenic unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 0 - 3 N 4 - - CHM Arg294Stop R294X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CHM Cys162Stop C162X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CHM Cys500Stop C500X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - CHM Glu154Stop E154X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CHM Ser116Stop S116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CHM Ser158Stop S158X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CHMP2B Asp148Tyr D148Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.903 - Y 7 Y 5 N 8 - - CHMP2B Gln165Stop Q165X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 4 - - CHMP2B Gln206His Q206H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 - Y -1 - 5 N 10 - - CHMP4B Asp129Val D129V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 8 Y 4 N - - CHMP4B Glu161Lys E161K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 0 - 4 N - - CHN1 Ala223Val A223V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.851 - - 2 - 4 N - - CHN1 Glu313Lys E313K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.821 - - 0 - 3 N - - CHN1 Gly228Ser G228S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 2 - 4 N - - CHN1 Ile126Met I126M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.003 - - -1 - 2 N - - CHN1 Leu20Phe L20F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.016 - - 0 - 2 N - - CHN1 Pro252Gln P252Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.755 - - 4 Y 3 N - - CHN1 Tyr143His Y143H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.993 - - -1 - 4 N - - CHRNA1 Arg254Leu R254L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - CHRNA1 Asn217Lys N217K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - CHRNA1 Cys418Trp C418W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - CHRNA1 Gly153Ser G153S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - CHRNA1 Phe233Val F233V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - CHRNA1 Phe256Leu F256L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - CHRNA1 Ser269Ile S269I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - CHRNA1 Thr254Ile T254I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 6 - - CHRNA1 Val132Leu V132L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - CHRNA1 Val156Met V156M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - CHRNA1 Val249Phe V249F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - CHRNA1 Val285Ile V285I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 4 - - CHRNA2 Ile279Asn I279N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - CHRNA4 Ser252Leu S252L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - CHRNA4 Ser252Phe S252F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - CHRNB1 Leu263Met L263M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 3 - - CHRNB1 Val266Met V266M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 0 - 6 N 4 - - CHRNB2 Val287Leu V287L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y Y 0 - 6 N 10 - - CHRNB2 Val287Met V287M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y Y 0 - 6 N 10 - - CHRND Arg443Stop R443X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CHRND Glu59Lys E59K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 8 - - CHRND Ile58Lys I58K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - CHRND Leu42Pro L42P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y Y 7 Y 6 N 9 - - CHRND Phe74Leu F74L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - CHRND Pro250Gln P250Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - CHRND Ser268Phe S268F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 8 - - CHRND Trp57Stop W57X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CHRNE Ala411Pro A411P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - CHRNE Arg64Stop R64X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - CHRNE Arg147Leu R147L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - CHRNE Arg311Trp R311W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - CHRNE Leu78Pro L78P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - CHRNE Leu221Phe L221F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CHRNE Leu269Phe L269F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CHRNE Pro121Leu P121L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - CHRNE Ser143Leu S143L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - CHRNE Thr264Pro T264P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 7 - - CHRNG Arg46Stop R46X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CHRNG Arg217Cys R217C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - CHRNG Arg448Stop R448X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - CHRNG Gln18Stop Q18X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CHS1 Arg50Stop R50X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - CHS1 Arg1103Stop R1103X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - CHS1 Arg1563His R1563H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 4 - - CHS1 Gln1029Stop Q1029X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - CHS1 Val1999Asp V1999D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 4 - - CHST3 Arg222Trp R222W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N 3 - - CHST3 Arg304Gln R304Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 0 - 4 N 10 - - CHST3 Leu259Pro L259P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 - - 7 Y 4 N 3 - - CHST3 Leu286Pro L286P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 - - 7 Y 4 N 3 - - CHST3 Leu307Pro L307P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 - - 7 Y 4 N 4 - - CHST3 Tyr201Stop Y201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - CHST6 Arg93Ser R93S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - CHST6 Asp203Glu D203E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -2 - 4 N - - CHST6 Cys102Gly C102G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - CHST6 Leu200Arg L200R pathogenic Insufficiently evaluated pathogenic unknown Array 3 10732 0.000279537 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - CHST6 Leu276Pro L276P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.988 - - 7 Y 4 N - - CHST6 Lys174Arg K174R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - -3 - 4 N - - CHST6 Tyr110Cys Y110C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - CHX10 Arg200Gln R200Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 10 - - CHX10 Arg200Pro R200P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - CHX10 Arg227Trp R227W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 1 - - CIRH1A Arg565Trp R565W pathogenic High clinical importance, Uncertain pathogenic recessive Array 3 10758 0.000278862 0 0 0 3 2 0 Y 0 Y ! - 3 Y 5 Y 4 Y Y Y - - 1.0 Y - 7 Y North American Indian Childhood Cirrhosis 22 0 0 52 INF 5 N 10 2 0 Reported to cause North American Indian childhood cirrhosis in a recessive manner, as recorded in ClinVar by OMIM. This comes from Chagnon et al 2002 (PMID: 12417987) who found this homozygous in all five affected families studied. All cases were Ojibway-Cree children in Quebec with a shared haplotype indicating a common ancestor, and may have been linked to a different causal variant. ExAC data reports that this variant is fairly common in Latino ancestry (allele frequency of 1.9%, ~1 in 3,000 are homozygous). This strongly contradicts the variant as causing this disease, which is extremely rare and has only been described in aboriginal children in northwestern Quebec. CISD2 Glu37Gln E37Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.579 Y - -2 - 4 N 4 - - CLCF1 Arg197Leu R197L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 6 Y 4 N 10 - - CLCF1 Tyr107Stop Y107X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - CLCN1 Arg300Stop R300X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CLCN1 Arg317Gln R317Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CLCN1 Arg496Ser R496S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 9 - - CLCN1 Arg894Stop R894X pathogenic Moderate clinical importance, pathogenic other Array 8 10758 0.000743632 0 0 0 3 3 3 Y - - 5 Y - - 3 - 3 - Y Y - - - Y Y 10 Y 6 N 10 1 2 Causes myotonia congenita in a recessive manner, delayed relaxation of the muscles and rigidity. May also cause symptoms in a dominant manner with low penetrance (sometimes subclinical symptoms reported). Based on allele frequency (1 in 500 are carriers) vs. disease prevalence (1-10 in 100,000), we conclude the penetrance for the disease in heterozygous carriers, if true, is either very low penetrances (< 1%) and/or very underdiagnosed. CLCN1 Gln552Arg Q552R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CLCN1 Glu291Lys E291K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - CLCN1 Gly230Glu G230E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - CLCN1 Gly482Arg G482R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - CLCN1 Gly499Arg G499R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - CLCN1 Ile290Met I290M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - CLCN1 Met128Val M128V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CLCN1 Phe413Cys F413C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - CLCN1 Pro480Leu P480L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CLCN1 Pro932Leu P932L pathogenic Insufficiently evaluated pathogenic unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - CLCN1 Ser189Phe S189F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - CLCN1 Trp433Arg W433R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - CLCN2 Arg577Gln R577Q pathogenic Insufficiently evaluated pathogenic unknown Array 6 10748 0.000558243 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y - 0 - 3 N 1 - - CLCN2 Gly715Glu G715E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y - 6 Y 3 N 10 - - CLCN5 Arg280Pro R280P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - CLCN5 Arg648Stop R648X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CLCN5 Arg704Stop R704X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CLCN5 Gly57Val G57V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - CLCN5 Gly260Val G260V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - CLCN5 Gly506Glu G506E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 7 - - CLCN5 Leu200Arg L200R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 7 - - CLCN5 Ser244Leu S244L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - CLCN5 Ser520Pro S520P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 8 - - CLCN5 Trp279Stop W279X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - CLCN5 Trp343Stop W343X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - CLCN7 Arg762Gln R762Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 7 - - CLCN7 Arg767Trp R767W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CLCN7 Gln555Stop Q555X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - CLCN7 Ile261Phe I261F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.908 Y Y 2 - 6 N 4 - - CLCN7 Leu766Pro L766P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 6 - - CLCNKA Cys80Trp C80W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - CLCNKA Gln260Stop Q260X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - CLCNKB Ala204Thr A204T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - CLCNKB Ala349Asp A349D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - CLCNKB Arg438Cys R438C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - CLCNKB Pro124Leu P124L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - CLCNKB Trp610Stop W610X pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 2 2 3 Y - - 0 Y - - 4 - 4 - Y Y - - - Y - 10 Y 5 N 10 2 0 Reported to cause Bartter syndrome in a recessive manner. Reported in Japanese and Korean cases, appears to be a common cause of this genetic disease in East Asian populations. Frequency of this variant in East Asian controls has not been reported. CLCNKB Tyr432His Y432H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 3 - - CLDN14 Gly101Arg G101R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - CLDN14 Val85Asp V85D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 8 Y 4 N - - CLDN16 Arg149Stop R149X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 2 Y - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - CLDN16 Gly191Arg G191R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 6 - - CLDN16 Gly198Asp G198D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.995 Y - 4 Y 5 N 2 - - CLDN16 Gly233Asp G233D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.978 Y - 4 Y 5 N 2 - - CLDN16 Gly239Arg G239R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 - - - - - - - - - - - - Y Y - - 0.978 Y - 6 Y 5 N 2 - - CLDN16 Leu145Pro L145P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.969 Y - 7 Y 5 N 3 - - CLDN16 Leu151Phe L151F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.786 Y - 0 - 4 N 7 - - CLDN16 Leu151Pro L151P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.988 Y - 7 Y 5 N - - CLDN16 Leu151Trp L151W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y - 5 Y 5 N 3 - - CLDN16 Leu167Pro L167P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.849 Y - 7 Y 4 N 1 - - CLDN16 Met71Arg M71R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.977 Y - 4 Y 5 N 1 - - CLDN16 Phe232Cys F232C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 5 - - CLDN16 Ser235Phe S235F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.887 Y - 5 Y 5 N - - CLDN16 Thr233Arg T233R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - CLDN16 Trp117Stop W117X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CLDN16 Tyr207Stop Y207X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - CLDN19 Gln57Glu Q57E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -2 - 5 N 7 - - CLDN19 Gly20Asp G20D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 4 Y 5 N 10 - - CLDN19 Leu90Pro L90P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 7 Y 5 N 5 - - CLEC7A Tyr238Stop Y238X pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs16910526 680 10758 0.0632088 5 0 5 1 1 4 Y 2 Y - - 1 Y 1 Y 5 Y - Y - - - - - 10 Y 3 N 6 0 0 This variant has been found to impair homan mucosal antifungal defense and was implicated in vulvovaginal candidiasis and mucocutaneous infections in a Dutch family. CLN3 Glu295Lys E295K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - CLN5 Arg112His R112H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - CLN5 Asp279Asn D279N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 7 - - CLN5 Glu352Stop E352X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CLN5 Trp75Stop W75X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CLN6 Glu72Stop E72X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CLN6 Gly123Asp G123D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 9 - - CLN6 Tyr221Stop Y221X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CLN8 Ala30Pro A30P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y Y 2 - 6 N 5 - - CLN8 Arg24Gly R24G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 6 Y 6 N 10 - - CLN8 Arg204Cys R204C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 2 - - CLN8 Trp263Cys W263C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 2 - - CNGA1 Glu76Stop E76X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - CNGA1 Lys139Stop K139X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - CNGA1 Ser316Phe S316F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 8 - - CNGA3 Arg277Cys R277C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - CNGA3 Arg283Gln R283Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CNGA3 Arg283Trp R283W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CNGA3 Arg411Trp R411W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - CNGA3 Arg436Trp R436W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CNGA3 Gly557Arg G557R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - CNGA3 Phe547Leu F547L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - CNGA3 Pro163Leu P163L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - CNGA3 Thr291Arg T291R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 10 - - CNGA3 Val529Met V529M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - CNGB1 Gly993Val G993V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 8 - - CNGB3 Ser435Phe S435F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 10 - - CNGB3 Tyr469Asp Y469D pathogenic Insufficiently evaluated pathogenic unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y Y 7 Y 6 N 2 - - CNNM4 Arg236Gln R236Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - CNNM4 Gln564Stop Q564X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CNNM4 Gln717Stop Q717X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CNNM4 Leu324Pro L324P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - CNNM4 Ser200Tyr S200Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - CNTNAP2 Ile869Thr I869T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.472 - - 3 - 3 N - - COCH Ala119Thr A119T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y - 1 - 3 N 9 - - COCH Cys542Phe C542F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - COCH Cys542Tyr C542Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 7 - - COCH Gly88Glu G88E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - COCH Ile109Asn I109N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 7 Y 5 N 10 - - COCH Met512Thr M512T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 4 - - COCH Pro51Ser P51S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - COCH Trp117Arg W117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - COCH Val66Gly V66G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.898 Y - 8 Y 5 N 10 - - COG8 Tyr537Stop Y537X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COH1 Arg971Stop R971X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - COH1 Arg2351Stop R2351X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 4 - - COH1 Asn2993Ser N2993S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - COH1 Gln3630Stop Q3630X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - COH1 Glu1491Stop E1491X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - COH1 Gly2645Asp G2645D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 2 - - COH1 Ile2820Thr I2820T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 3 - - COH1 Leu2193Arg L2193R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 1 - - COL10A1 Cys591Arg C591R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 6 - - COL10A1 Gly18Arg G18R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 5 - - COL10A1 Gly18Glu G18E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - COL10A1 Gly595Glu G595E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 7 - - COL10A1 Leu614Pro L614P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - COL10A1 Ser600Pro S600P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 8 - - COL10A1 Ser671Pro S671P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 10 - - COL10A1 Trp611Stop W611X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - COL10A1 Trp651Arg W651R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - COL10A1 Trp651Stop W651X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - COL10A1 Tyr597Cys Y597C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - COL10A1 Tyr598Asp Y598D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 7 - - COL10A1 Tyr628Stop Y628X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - COL10A1 Tyr632Stop Y632X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - COL11A1 Gly97Val G97V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - COL11A1 Gly988Val G988V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - COL11A2 Arg549Cys R549C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - COL11A2 Arg845Stop R845X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - COL11A2 Arg893Stop R893X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL11A2 Gly175Arg G175R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - COL11A2 Gly323Glu G323E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - COL11A2 Gly955Glu G955E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y Y 6 Y 6 N 9 - - COL11A2 Pro621Thr P621T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 4 Y 6 N 8 - - COL11A2 Ser345Stop S345X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - COL17A1 Arg145Stop R145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - COL17A1 Arg1226Stop R1226X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL17A1 Arg1303Gln R1303Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - COL17A1 Gln1023Stop Q1023X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL17A1 Gly633Asp G633D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - COL17A1 Leu855Stop L855X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL1A1 Arg134Cys R134C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL1A1 Arg836Cys R836C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL1A1 Arg963Stop R963X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL1A1 Gly13Ala G13A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - COL1A1 Gly13Asp G13D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - COL1A1 Gly43Cys G43C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly76Glu G76E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - COL1A1 Gly85Arg G85R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - COL1A1 Gly94Cys G94C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly97Asp G97D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - COL1A1 Gly154Arg G154R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL1A1 Gly175Cys G175C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly178Cys G178C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - COL1A1 Gly256Val G256V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - COL1A1 Gly352Ser G352S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL1A1 Gly355Asp G355D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A1 Gly391Arg G391R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - COL1A1 Gly415Cys G415C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - COL1A1 Gly415Ser G415S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - COL1A1 Gly526Cys G526C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly541Asp G541D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A1 Gly559Asp G559D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A1 Gly565Val G565V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - COL1A1 Gly586Val G586V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL1A1 Gly637Val G637V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - COL1A1 Gly661Ser G661S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - COL1A1 Gly667Arg G667R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - COL1A1 Gly673Asp G673D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A1 Gly691Cys G691C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly718Cys G718C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly748Cys G748C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - COL1A1 Gly802Val G802V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - COL1A1 Gly832Ser G832S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - COL1A1 Gly844Ser G844S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - COL1A1 Gly847Arg G847R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - COL1A1 Gly862Ser G862S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - COL1A1 Gly883Asp G883D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A1 Gly901Ser G901S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - COL1A1 Gly904Cys G904C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - COL1A1 Gly913Ser G913S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - COL1A1 Gly973Val G973V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - COL1A1 Gly988Cys G988C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A1 Gly1003Ser G1003S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL1A1 Gly1006Val G1006V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - COL1A1 Gly1009Ser G1009S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL1A1 Gly1017Cys G1017C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - COL1A1 Trp94Cys W94C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - COL1A2 Arg618Gln R618Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - COL1A2 Glu1201Stop E1201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL1A2 Gly259Cys G259C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - COL1A2 Gly277Tyr G277Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - COL1A2 Gly379Ala G379A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - COL1A2 Gly472Cys G472C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - COL1A2 Gly502Ser G502S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL1A2 Gly547Asp G547D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A2 Gly580Asp G580D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A2 Gly586Val G586V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL1A2 Gly646Cys G646C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL1A2 Gly661Ser G661S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - COL1A2 Gly694Arg G694R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - COL1A2 Gly751Ser G751S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - COL1A2 Gly805Asp G805D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL1A2 Gly859Ser G859S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL1A2 Gly865Ser G865S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL1A2 Gly907Asp G907D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - COL1A2 Gly976Asp G976D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 4 Y 6 N - - COL1A2 Gly1006Ala G1006A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 1 - 6 N 7 - - COL1A2 Gly1012Arg G1012R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 6 Y 6 N - - COL2A1 Arg9Stop R9X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COL2A1 Arg75Cys R75C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL2A1 Arg365Cys R365C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL2A1 Arg453Stop R453X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - COL2A1 Arg519Cys R519C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL2A1 Arg704Cys R704C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL2A1 Arg732Stop R732X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COL2A1 Arg789Cys R789C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL2A1 Arg792Gly R792G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL2A1 Cys57Tyr C57Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - COL2A1 Cys64Stop C64X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL2A1 Cys1438Stop C1438X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - COL2A1 Gly67Asp G67D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - COL2A1 Gly103Asp G103D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - COL2A1 Gly118Arg G118R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - COL2A1 Gly154Arg G154R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - COL2A1 Gly292Val G292V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - COL2A1 Gly304Cys G304C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - COL2A1 Gly316Asp G316D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - COL2A1 Gly346Val G346V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - COL2A1 Gly574Ser G574S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - COL2A1 Gly691Arg G691R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL2A1 Gly709Cys G709C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - COL2A1 Gly717Ser G717S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - COL2A1 Gly769Ser G769S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - COL2A1 Gly853Glu G853E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - COL2A1 Gly943Ser G943S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 9 - - COL2A1 Gly973Arg G973R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL2A1 Gly997Ser G997S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - COL2A1 Gly1105Asp G1105D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - COL2A1 Gly1170Ser G1170S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - COL2A1 Leu467Phe L467F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - COL2A1 Pro846Stop P846X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - COL2A1 Thr1370Met T1370M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 7 - - COL2A1 Trp47Stop W47X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 4 Y - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COL2A1 Tyr1391Cys Y1391C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - COL3A1 Ala531Thr A531T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - COL3A1 Gly16Ser G16S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - COL3A1 Gly82Asp G82D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - COL3A1 Gly130Arg G130R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - COL3A1 Gly136Arg G136R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL3A1 Gly373Arg G373R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - COL3A1 Gly385Glu G385E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - COL3A1 Gly415Ser G415S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - COL3A1 Gly499Asp G499D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - COL3A1 Gly571Ser G571S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - COL3A1 Gly619Arg G619R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - COL3A1 Gly637Ser G637S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - COL3A1 Gly790Ser G790S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - COL3A1 Gly793Val G793V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - COL3A1 Gly847Glu G847E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - COL3A1 Gly883Asp G883D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - COL3A1 Gly883Val G883V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - COL3A1 Gly910Val G910V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - COL3A1 Gly934Glu G934E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - COL3A1 Gly1006Glu G1006E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - COL3A1 Gly1018Asp G1018D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - COL3A1 Gly1021Glu G1021E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL4A1 Gly498Val G498V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - COL4A1 Gly519Arg G519R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - COL4A1 Gly528Glu G528E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - COL4A1 Gly562Glu G562E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - COL4A1 Gly720Asp G720D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 7 - - COL4A1 Gly749Ser G749S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 5 - - COL4A1 Gly1130Asp G1130D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 2 - - COL4A1 Gly1236Arg G1236R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 4 - - COL4A1 Gly1423Arg G1423R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - COL4A1 Gly1580Arg G1580R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - COL4A1 Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 1 - - COL4A3 Arg1481Stop R1481X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - COL4A3 Gly985Val G985V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COL4A3 Gly1015Glu G1015E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL4A3 Ser1524Stop S1524X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - COL4A4 Arg1377Stop R1377X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL4A4 Cys1641Stop C1641X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL4A4 Gly897Glu G897E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - COL4A4 Gly1201Ser G1201S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - COL4A4 Pro1572Leu P1572L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - COL4A4 Ser1238Stop S1238X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - COL4A5 Arg1677Gln R1677Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - COL4A5 Cys108Ser C108S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - COL4A5 Gly54Asp G54D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - COL4A5 Gly325Arg G325R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - COL4A5 Gly325Glu G325E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - COL4A5 Gly521Cys G521C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - COL4A5 Gly1143Asp G1143D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - COL4A5 Leu1649Arg L1649R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL5A1 Arg792Stop R792X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL5A1 Cys1181Ser C1181S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - COL5A1 Gly1489Glu G1489E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL5A2 Gly934Arg G934R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL6A1 Gly284Arg G284R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.957 Y Y 6 Y 6 N 5 - - COL6A1 Gly286Val G286V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - COL6A1 Gly290Arg G290R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 1 - - COL6A1 Gly341Asp G341D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 8 - - COL6A1 Lys121Arg K121R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.907 Y Y -3 - 6 N 9 - - COL6A1 Tyr659Stop Y659X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - COL6A2 Asp620Asn D620N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 9 - - COL6A2 Gln819Stop Q819X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL6A2 Gly250Ser G250S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - COL6A2 Pro932Leu P932L pathogenic Insufficiently evaluated pathogenic unknown Array 1 118 0.00847458 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.022 Y Y 7 Y 4 N 1 - - COL6A3 Arg465Stop R465X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL6A3 Gly1679Glu G1679E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - COL6A3 Leu1726Arg L1726R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - COL7A1 Arg109Stop R109X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - COL7A1 Arg1630Stop R1630X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COL7A1 Arg2063Trp R2063W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 10 - - COL7A1 Arg2069Cys R2069C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 8 Y 6 N 4 - - COL7A1 Arg2471Stop R2471X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COL7A1 Gly1347Arg G1347R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - COL7A1 Gly1519Asp G1519D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 4 Y 6 N 7 - - COL7A1 Gly1595Arg G1595R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 2 - - COL7A1 Gly1815Arg G1815R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 6 - - COL7A1 Gly2003Arg G2003R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 2 - - COL7A1 Gly2006Asp G2006D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 4 Y 6 N 8 - - COL7A1 Gly2015Glu G2015E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 8 - - COL7A1 Gly2031Ser G2031S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 2 - 6 N 10 - - COL7A1 Gly2034Arg G2034R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 10 - - COL7A1 Gly2037Glu G2037E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 10 - - COL7A1 Gly2040Ser G2040S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 2 - 6 N 6 - - COL7A1 Gly2043Arg G2043R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 10 - - COL7A1 Gly2073Val G2073V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 8 Y 6 N 1 - - COL7A1 Gly2076Asp G2076D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 4 Y 6 N 9 - - COL7A1 Gly2242Arg G2242R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL7A1 Gly2251Glu G2251E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - COL7A1 Gly2287Arg G2287R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL7A1 Gly2623Cys G2623C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - COL7A1 Gly2653Arg G2653R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL7A1 Gly2749Arg G2749R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - COL7A1 Lys142Arg K142R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 2 - - COL7A1 Met2798Lys M2798K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - COL7A1 Pro1699Leu P1699L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - COL7A1 Tyr311Stop Y311X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - COL8A2 Gln455Lys Q455K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - COL8A2 Leu450Trp L450W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - COL9A1 Arg295Stop R295X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COL9A2 Gln326Trp Q326W pathogenic Insufficiently evaluated pathogenic unknown Array rs2228564 4 128 0.03125 2 0 2 2 2 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - COLQ Arg282Stop R282X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COLQ Arg315Stop R315X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COLQ Glu214Stop E214X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - COLQ Gly240Stop G240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - COLQ Ser169Stop S169X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - COLQ Tyr431Ser Y431S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - COMP Arg718Trp R718W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - COMP Asn453Ser N453S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - COMP Asn523Lys N523K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - COMP Asp342Tyr D342Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - COMP Asp472Tyr D472Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - COMP Asp473Gly D473G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - COMP Cys328Arg C328R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - COMP Cys348Arg C348R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 8 - - COMP Cys468Tyr C468Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - COMP Gly719Asp G719D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - COMT Ala72Ser A72S pathogenic Insufficiently evaluated pathogenic unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.037 - - -1 - 2 N - - COQ2 Arg197His R197H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - COQ2 Asn228Ser N228S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - COQ2 Ser146Asn S146N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - COQ2 Tyr297Cys Y297C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 7 - - COQ9 Arg244Stop R244X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - COX10 Asn204Lys N204K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - COX10 Asp336Gly D336G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 5 - - COX10 Asp336Val D336V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - COX10 Pro225Leu P225L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 9 - - COX10 Thr196Lys T196K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 6 - - COX15 Arg217Trp R217W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - COX4I2 Glu138Lys E138K pathogenic Insufficiently evaluated pathogenic unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.952 - - 0 - 4 N - - COX6B1 Arg19His R19H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 5 - - CP Trp858Stop W858X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - CPN1 Gly178Asp G178D pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs61751507 383 10758 0.0356014 2 0 2 1 1 1 Y 0 Y 0 Y 0 Y 2 Y 1 Y Y Y - - 0.982 Y - 4 Y 5 Y 5 0 0 This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function. CPOX Arg328Cys R328C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 2 - - CPOX Arg331Trp R331W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 7 - - CPOX Arg447Cys R447C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 8 Y 5 N 3 - - CPOX Gln29Stop Q29X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - CPOX Gly279Arg G279R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - CPOX His295Asp H295D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N - - CPOX Lys404Glu K404E pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 0 - 5 N 10 - - CPOX Ser208Phe S208F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 4 - - CPS1 Arg787Stop R787X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - CPS1 Gln44Stop Q44X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CPS1 Gly982Asp G982D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 1 - - CPS1 His337Arg H337R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - CPS1 Thr544Met T544M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 1 - - CPS1 Thr1405Asn T1405N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - CPT1A Ala414Val A414V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y Y 2 - 6 N 10 - - CPT1A Asp454Gly D454G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 7 - - CPT1A Gln100Stop Q100X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CPT1A Glu360Gly E360G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 6 Y 6 N 3 - - CPT1A Gly709Glu G709E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - CPT1A Gly710Glu G710E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 6 Y 6 N 10 - - CPT1A Tyr498Cys Y498C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - CPT2 Arg503Cys R503C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.393 Y Y 8 Y 5 N 10 - - CPT2 Arg631Cys R631C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - CPT2 Asp213Gly D213G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 3 - - CPT2 Asp553Asn D553N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.851 Y Y -1 - 6 N 7 - - CPT2 Glu174Lys E174K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y Y 0 - 6 N 9 - - CPT2 Glu454Stop E454X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CPT2 Phe383Tyr F383Y pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -4 - 6 N 10 - - CPT2 Pro50His P50H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - CPT2 Pro227Leu P227L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - CPT2 Ser113Leu S113L pathogenic High clinical importance, pathogenic recessive Array 10 10758 0.00092954 1 0 1 3 3 3 Y 1 Y 5 Y - - 3 Y 4 Y Y Y - - 0.987 Y Y 6 Y Carnitine Palmitoyltransferase II Deficiency 28 22 0 0 - 6 N 9 2 2 This is the most common variant associated with late-onset carnitine palmitoyltransferase deficiency, which is classically viewed as recessive. CPT2 Tyr120Cys Y120C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y 6 Y 6 N 8 - - CPT2 Tyr628Ser Y628S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 5 Y 6 N 10 - - CRB1 Arg764Cys R764C pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 8 Y 4 N 8 - - CRB1 Cys1181Arg C1181R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 6 - - CRB1 Glu995Stop E995X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - CRB1 Glu1333Stop E1333X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - CRB1 Gly1103Arg G1103R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.668 Y Y 6 Y 5 N 10 - - CRB1 Ile1100Arg I1100R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 Y Y 7 Y 6 N 6 - - CRB1 Lys801Stop K801X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - CRB1 Met1041Thr M1041T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 4 - - CRB1 Thr745Met T745M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - CRB1 Val162Met V162M pathogenic High clinical importance, Uncertain pathogenic dominant Array 9 10758 0.000836586 0 0 0 2 2 0 Y - - - - 2 Y 4 Y 1 - Y Y - - - Y Y 0 - 5 N 3 2 0 Very rare, reported to cause pigmented paravenous chorioretinal atrophy in a dominant manner, with variable effect -- some carriers asymptomatic, while another had vision loss in early 30s. Only one family reported. This variant had a strong association with the disease in that family, but different publication concluded the variant is benign and does not segregate with disease. CRBN Arg419Stop R419X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CREBBP Arg1378Pro R1378P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - CREBBP Gln136Stop Q136X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CREBBP Gln357Stop Q357X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CREBBP Tyr1175Cys Y1175C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - CRELD1 Arg107His R107H pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - - 1 - 4 N 3 - - CRELD1 Arg329Cys R329C pathogenic Insufficiently evaluated pathogenic unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 8 Y 4 N 4 - - CRELD1 Glu414Lys E414K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.123 - - 0 - 2 N 1 - - CRELD1 Pro162Ala P162A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 - - 2 - 4 N 2 - - CRELD1 Thr311Ile T311I pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.153 - - 3 - 2 N 2 - - CRLF1 Arg277Stop R277X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - CRLF1 Lys368Stop K368X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - CRLF1 Trp76Gly W76G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 7 Y 4 N 4 - - CRTAP Gln276Stop Q276X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - CRTAP Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - CRX Arg41Gln R41Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CRX Arg41Trp R41W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CRX Arg90Trp R90W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CRX Glu80Ala E80A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - CRYAA Arg49Cys R49C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 8 Y 4 N - - CRYAA Arg116Cys R116C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - CRYAA Arg116His R116H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - CRYAA Trp9Stop W9X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CRYAB Arg120Gly R120G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - CRYAB Gln151Stop Q151X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CRYBA4 Leu69Pro L69P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - CRYBA4 Phe94Ser F94S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - CRYBB1 Gly220Stop G220X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CRYBB2 Gln155Stop Q155X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CRYBB3 Gly165Arg G165R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - CRYGC Arg168Trp R168W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - CRYGC Thr5Pro T5P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.238 - - 4 Y 3 N - - CRYGD Arg14Cys R14C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - CRYGD Arg36Ser R36S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - CRYGD Arg58His R58H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 10 - - CRYGD Pro23Ser P23S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - CRYGD Pro23Thr P23T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 10 - - CRYGD Trp156Stop W156X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - CRYGS Gly18Val G18V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 8 Y 4 N - - CRYM Lys314Thr K314T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.472 - - 3 - 3 N - - CSF1R Tyr969Cys Y969C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - CSF2RA Gly174Arg G174R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - CSF3R Thr617Asn T617N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - CSNK1D Thr44Ala T44A pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 - - - - - - - - - - - - - Y - - 0.031 - - 1 - 2 N - - Mendelian circadian rhythm variant that results in a behavioral phenotype, familial advanced sleep phase syndrome. CSRP3 Cys58Gly C58G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - CSRP3 Leu44Pro L44P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - CSRP3 Lys69Arg K69R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.857 Y Y -3 - 6 N 6 - - CSRP3 Ser46Arg S46R pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 2 - - CSRP3 Trp4Arg W4R pathogenic Low clinical importance, Likely pathogenic unknown Array 42 10758 0.00390407 0 0 0 2 2 1 Y 2 Y 3 Y - - 4 Y 3 - Y Y - - 0.958 Y Y 7 Y Dilated Cardiomyopathy 13 1165 2 851 4.748 6 N 10 0 1 Implicated in causing dilated cardiomyopathy, but seen in also seen in some unaffected controls with no family history of heart disease. The significance of this variant is unclear; if it is involved in the disease, the increased risk seems to be very low and may require other genetic or environmental factors. CST3 Leu68Gln L68Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - CSTB Arg68Stop R68X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - CSTB Gln71Pro Q71P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.686 Y Y 4 Y 5 N 3 - - CSTB Gly4Arg G4R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - CTH Gln240Glu Q240E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -2 - 5 N 7 - - CTH Thr67Ile T67I pathogenic Low clinical importance, pathogenic recessive Array 88 10758 0.00817996 0 0 0 3 3 2 Y 1 - 5 Y - - 1 - 0 - Y Y - - 0.999 Y - 3 - 5 N 10 0 2 Causes cystathioninuria in a recessive manner (an abnormal accumulation of cystathione in urine). Generally thought to be a benign anomaly, it's often only found when a clinician performs biochemical assays for investigating an unrelated disease. CTNNB1 Asp32Gly D32G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - - Y - - 0.979 - - 4 Y 4 N - - CTNNB1 Asp32Tyr D32Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - - Y - - 0.996 - - 7 Y 4 N - - CTNNB1 Gly34Glu G34E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - CTNNB1 Gly34Val G34V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - CTNNB1 Ser33Phe S33F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - CTNNB1 Ser33Tyr S33Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - CTNNB1 Ser37Cys S37C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 3 - 4 N - - CTNNB1 Ser37Phe S37F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - CTNNB1 Ser45Phe S45F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.972 - - 5 Y 4 N - - CTNNB1 Ser45Pro S45P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.931 - - 3 - 4 N - - CTNNB1 Thr41Ala T41A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.928 - - 1 - 4 N - - CTNNB1 Thr41Ile T41I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.986 - - 3 - 4 N - - CTNS Asn323Lys N323K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - CTNS Gly95Stop G95X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - CTNS Gly110Val G110V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - CTNS Gly169Asp G169D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - CTNS Gly197Arg G197R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - CTNS Gly339Arg G339R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - CTNS Trp138Stop W138X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CTNS Val42Ile V42I pathogenic Insufficiently evaluated pathogenic unknown Array rs35086888 197 10758 0.018312 3 0 3 1 1 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 3 - - CTRC Arg254Trp R254W pathogenic Low clinical importance, Likely pathogenic dominant Array 21 10758 0.00195204 0 0 0 1 1 1 Y - - 4 - - - 3 - 3 - Y Y - - 1.0 Y - 7 Y 5 N 10 0 1 Associated with idiopathic or hereditary chronic pancreatitis. We estimate carriers of this variant have around 0.1% increased risk of chronic pancreatitis (about 3-fold average, but the condition is very rare). CTRC Trp55Stop W55X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - CTSA Gln49Arg Q49R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - CTSA Gly411Ser G411S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - CTSA Leu208Pro L208P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - CTSA Lys453Glu K453E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - CTSA Met378Thr M378T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - CTSA Phe412Val F412V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - CTSA Ser90Leu S90L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - CTSA Trp65Arg W65R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - CTSA Tyr221Asn Y221N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - CTSA Tyr249Asn Y249N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - CTSA Tyr395Cys Y395C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - CTSA Val104Met V104M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - CTSC Arg210Stop R210X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CTSC Gln252Leu Q252L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - CTSC Gln286Arg Q286R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.982 - - 0 - 4 N - - CTSC Gln286Stop Q286X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CTSC Glu286Stop E286X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CTSC Gly301Ser G301S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.966 - - 2 - 4 N - - CTSC His127Pro H127P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - CTSC Trp39Ser W39S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - CTSC Trp429Cys W429C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - CTSC Tyr347Cys Y347C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - CTSC Tyr412Cys Y412C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - CTSD Phe229Ile F229I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - CTSD Trp383Cys W383C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CTSK Ala277Val A277V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.162 Y - 2 - 3 N 10 - - CTSK Arg241Stop R241X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - CTSK Gly79Glu G79E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 7 - - CTSK Gly146Arg G146R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 5 - - CTSK Leu309Pro L309P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 7 Y 5 N 4 - - CTSK Lys52Stop K52X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - CUBN Pro1297Leu P1297L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - CUL4B Arg388Stop R388X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CUL4B Arg572Cys R572C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 2 - - CUL7 Arg1445Stop R1445X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 10 - - CUL7 His1464Pro H1464P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.957 - Y 5 Y 5 N 10 - - CXCR4 Arg334Stop R334X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CXCR4 Glu343Stop E343X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CXCR4 Ser338Stop S338X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CXORF5 Ser434Arg S434R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 3 - - CYB5R3 Arg57Gln R57Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - CYB5R3 Arg160Stop R160X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CYB5R3 Arg218Stop R218X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CYB5R3 Asp239Gly D239G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - CYB5R3 Cys203Arg C203R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - CYB5R3 Cys203Tyr C203Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - CYB5R3 Gln77Stop Q77X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CYB5R3 Gly291Asp G291D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - CYB5R3 Leu72Pro L72P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - CYB5R3 Leu148Pro L148P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 7 Y 4 N - - CYB5R3 Ser127Pro S127P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - CYB5R3 Thr116Ser T116S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - CYB5R3 Val105Met V105M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - CYBA Ala125Thr A125T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y - 1 - 5 N 2 - - CYBA Arg90Gln R90Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 2 - - CYBA Gln3Stop Q3X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CYBA Gly24Arg G24R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 2 - - CYBA His72Tyr H72Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 8 - - CYBA His94Arg H94R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 3 - - CYBA Pro156Gln P156Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 3 - - CYBA Ser118Arg S118R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 3 - 5 N 3 - - CYBB Ala156Thr A156T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - CYBB Arg73Stop R73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CYBB Arg226Stop R226X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - CYBB Asp500Gly D500G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 8 - - CYBB Cys244Ser C244S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 3 - - CYBB Gly389Ala G389A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 2 - - CYBB His101Arg H101R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 2 - - CYBB His101Tyr H101Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 3 - - CYBB His209Tyr H209Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 2 - - CYBB His303Asn H303N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 6 - - CYBB Pro304Arg P304R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 5 Y 5 N 2 - - CYBB Pro415His P415H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 7 - - CYCS Gly42Ser G42S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.592 - - 2 - 3 N - - CYLD Arg758Stop R758X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CYLD Arg936Stop R936X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CYLD Glu747Gly E747G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - CYP11A1 Ala189Val A189V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.004 - - 2 - 2 N - - CYP11A1 Ala359Val A359V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.674 - - 2 - 3 N - - CYP11A1 Arg353Trp R353W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - CYP11A1 Leu141Trp L141W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.968 - - 5 Y 4 N - - CYP11A1 Val415Glu V415E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 5 Y 4 N - - CYP11B1 Ala368Asp A368D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - CYP11B1 Arg374Gln R374Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - CYP11B1 Arg448His R448H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - CYP11B1 Asn133His N133H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - CYP11B1 Pro42Ser P42S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - CYP11B1 Pro94Leu P94L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - CYP11B1 Thr318Met T318M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - CYP11B1 Thr319Met T319M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - CYP11B1 Trp116Stop W116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - CYP11B1 Tyr423Stop Y423X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CYP11B2 Glu255Stop E255X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - CYP11B2 Glu272Stop E272X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - CYP11B2 Leu461Pro L461P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.895 Y - 7 Y 5 N 3 - - CYP11B2 Thr185Ile T185I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 3 - 5 N 8 - - CYP11B2 Thr498Ala T498A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 7 - - CYP17A1 Arg96Gln R96Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 6 - - CYP17A1 Arg96Trp R96W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - CYP17A1 Arg125Gln R125Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 5 - - CYP17A1 Arg239Stop R239X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - CYP17A1 Arg347Cys R347C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 9 - - CYP17A1 Arg347His R347H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - CYP17A1 Arg358Gln R358Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - CYP17A1 Arg362Cys R362C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 5 - - CYP17A1 Arg416His R416H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 7 - - CYP17A1 Asp116Val D116V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 2 - - CYP17A1 Phe93Cys F93C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 1 - - CYP17A1 Phe114Val F114V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 3 - - CYP17A1 Phe453Ser F453S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - CYP17A1 Pro342Thr P342T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 5 - - CYP17A1 Pro428Leu P428L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 8 - - CYP17A1 Ser106Pro S106P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 3 - 5 N 4 - - CYP17A1 Trp17Stop W17X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - CYP17A1 Trp406Arg W406R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - CYP17A1 Tyr27Stop Y27X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - CYP17A1 Tyr201Asn Y201N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 5 Y 5 N 10 - - CYP17A1 Tyr329Asp Y329D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.508 Y - 7 Y 4 N 6 - - CYP19A1 Arg365Gln R365Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N - - CYP19A1 Arg375Cys R375C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 3 - - CYP19A1 Arg435Cys R435C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 9 - - CYP19A1 Cys437Tyr C437Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 5 - - CYP19A1 Glu210Lys E210K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 1 - - CYP1B1 Arg368His R368H pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs28936414 16 10694 0.00149617 1 0 1 4 4 2 Y - - 1 Y 2 Y 2 - 4 - Y Y - - 0.999 Y Y 1 - Primary Congenital Glaucoma 37 302 2 238 14.579 6 N 10 1 0 This variant has been associated with early onset open-angle glaucoma and juvenile open-angle glaucoma, acting as a modifier to a variant in another gene or compound heterozygously with other more severe variants in the same gene. CYP1B1 Arg469Trp R469W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - CYP1B1 Asn423Tyr N423Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 4 - - CYP1B1 Asp374Asn D374N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.845 Y Y -1 - 5 N 10 - - CYP1B1 Glu387Lys E387K pathogenic Insufficiently evaluated pathogenic unknown Array 3 10746 0.000279173 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - CYP1B1 Gly61Glu G61E pathogenic Insufficiently evaluated pathogenic unknown Array 1 10292 9.7162e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - CYP1B1 Gly232Arg G232R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.936 Y Y 6 Y 6 N 7 - - CYP1B1 Gly365Trp G365W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.292 Y Y 7 Y 5 N 10 - - CYP1B1 Lys387Glu K387E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - CYP1B1 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 2 - 6 N 7 - - CYP1B1 Trp57Stop W57X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10458 0.000286861 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CYP1B1 Tyr81Asn Y81N benign Low clinical importance, Likely benign recessive Array 33 10106 0.00326539 0 0 0 0 0 - - - - 5 Y 0 - - - - - Y Y - - 0.968 Y Y 5 Y 6 N 10 0 1 Reported to cause primary open angle glaucoma in a recessive manner. This assertion in ClinVar is reported by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008185/), and is based on Melki et al 2004 (PMID: 15342693). Studying 236 unrelated patients, this variant was seen heterozygously in two of them. Although the authors didn't find this mutation in 394 control chromosomes, ExAC data indicates this variant has an allele frequency of 0.7% in European ancestry. About 1 in 70 are expected to carry the variant, and so finding it twice in 236 individuals represents no enrichment relative to the general population. CYP21A2 Arg339His R339H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - CYP21A2 Arg356Trp R356W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CYP21A2 Arg408Cys R408C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - CYP21A2 Arg426His R426H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - CYP21A2 Gln318Stop Q318X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - CYP21A2 Glu380Asp E380D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - CYP21A2 Gly292Ser G292S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - CYP21A2 Gly375Ser G375S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 9 - - CYP21A2 Gly424Ser G424S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - CYP21A2 His62Leu H62L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - CYP21A2 Ile172Asn I172N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CYP21A2 Ile235Asn I235N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - CYP21A2 Met238Lys M238K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - CYP21A2 Pro30Leu P30L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - CYP21A2 Pro453Ser P453S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - CYP21A2 Ser268Thr S268T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 7 - - CYP21A2 Trp406Stop W406X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - CYP21A2 Tyr102Arg Y102R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - CYP21A2 Val236Glu V236E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 6 - - CYP21A2 Val281Leu V281L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CYP21A2 Val304Met V304M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - CYP27A1 Arg362Cys R362C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - CYP27A1 Arg362Ser R362S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - CYP27A1 Arg372Gln R372Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - CYP27A1 Arg441Gln R441Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - CYP27A1 Arg441Trp R441W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - CYP27A1 Arg446Cys R446C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - CYP27A1 Arg479Gly R479G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 1 - - CYP27A1 Gly112Glu G112E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - CYP27A1 Thr339Met T339M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 1 - - CYP27B1 Arg107His R107H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 8 - - CYP27B1 Arg335Pro R335P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 5 Y 5 N 8 - - CYP27B1 Arg389Gly R389G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 4 - - CYP27B1 Arg389His R389H pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 7 - - CYP27B1 Glu189Gly E189G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 6 Y 5 N 1 - - CYP27B1 Gly125Glu G125E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 6 - - CYP27B1 Leu343Phe L343F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 0 - 5 N 3 - - CYP27B1 Pro382Ser P382S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 4 - - CYP27B1 Thr321Arg T321R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 8 - - CYP27B1 Thr409Ile T409I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.042 Y - 3 - 3 N 4 - - CYP2A6 Leu160His L160H pathogenic Insufficiently evaluated pathogenic unknown Array rs1801272 185 10754 0.0172029 2 0 2 0 0 - - - - - - - - - - - - - Y - Y 0.045 - - 6 Y 2 N 9 - - CYP2A6 Ser224Pro S224P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.966 - - 3 - 4 N - - CYP2C19 Arg433Trp R433W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - CYP2C19 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array rs28399504 1 128 0.0078125 1 0 1 1 1 - - - - - - - - - - - - - Y - Y 0.135 - - 0 - 2 N 10 - - This variant creates the CYP2C19*4 haplotype which is associated with poor metabolism of mephenytoin. CYP2C9 Ile359Leu I359L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1057910 527 10758 0.0489868 7 0 7 7 7 1 Y 3 Y 5 Y - - 4 Y 4 Y - Y - Y 0.048 - - -2 - 2 N - - This variant, also called CYP2C9*3, is a pharmacogenetic variant that modulates sensitivity for Warfarin (due to reduced metabolism). This variant is more frequent in Caucasians. The FDA has approved reduced recommended Warfarin dosage based on the presence of this variant. CYP2C9 Leu208Val L208V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - CYP2D6 Gly169Stop G169X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10602 9.4321e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - CYP2R1 Leu99Pro L99P pathogenic Insufficiently evaluated pathogenic unknown Array 17 10756 0.00158051 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - CYP4F22 Arg243His R243H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 1 - 5 N 3 - - CYP4F22 His435Tyr H435Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y -1 - 5 N 3 - - CYP4F22 His436Asp H436D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 - Y 3 - 5 N 3 - - CYP4V2 Arg508His R508H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 - - 1 - 4 N 3 - - CYP4V2 Gly61Ser G61S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 - - 2 - 4 N 2 - - CYP4V2 Ile111Thr I111T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 - - 3 - 4 N 2 - - CYP4V2 Trp44Arg W44R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10662 9.3791e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.54 - - 7 Y 3 N 2 - - CYP7B1 Arg388Stop R388X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - CYP7B1 Arg417His R417H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10742 9.3092e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - CYP7B1 Gly57Arg G57R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 3 - - CYP7B1 Phe216Ser F216S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 5 Y 5 N 3 - - CYP7B1 Ser363Phe S363F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.605 Y - 5 Y 4 N 3 - - CYP7B1 Tyr275Stop Y275X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - D2HGDH Asn439Asp N439D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.902 Y - -1 - 5 N 1 - - D2HGDH Ile147Ser I147S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.908 Y - 5 Y 5 N 1 - - D2HGDH Val444Ala V444A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 2 - 5 N 1 - - DARS2 Arg179His R179H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N - - DARS2 Arg263Gln R263Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 1 - - DARS2 Arg263Stop R263X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - DARS2 Cys152Phe C152F pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 5 - - DARS2 Glu425Stop E425X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - DARS2 Leu613Phe L613F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.569 Y - 0 - 4 N - - DARS2 Leu626Gln L626Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.803 Y - 5 Y 4 N - - DARS2 Leu626Val L626V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.051 Y - 0 - 3 N 1 - - DARS2 Ser45Gly S45G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.256 Y - 2 - 4 N - - DAZL Thr54Ala T54A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.005 - - 1 - 2 N - - DBH Asp100Glu D100E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 8 - - DBT Gly323Ser G323S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - DBT His391Arg H391R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - DBT Ile37Met I37M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 3 - - DBT Phe215Cys F215C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - DBT Ser133Stop S133X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DCC Met168Thr M168T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.942 - - 2 - 4 N - - DCLRE1C Arg74Stop R74X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - DCLRE1C His35Asp H35D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 1 - - DCLRE1C Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 2 - - DCLRE1C Tyr192Stop Y192X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - DCTN1 Arg785Trp R785W pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 1 1 2 Y - - - - 0 Y 4 Y 1 Y Y Y - - 0.985 Y - 7 Y 5 Y 9 - - This variant is possibly associated with familial motor neuron disease, however there is only one linked publication which is from 2004 and which has not been reproduced since. Münch C et al. note that while this variant was found in two brothers with probable ALS, the same variant was present in their asymptomatic mother and sister, which implies incomplete penetrance. DCTN1 Arg1101Lys R1101K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y - -3 - 5 N 10 - - DCTN1 Gln74Pro Q74P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 3 - - DCTN1 Gly59Ser G59S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 2 - 5 N 10 - - DCTN1 Gly71Arg G71R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 3 - - DCTN1 Met571Thr M571T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - DCTN1 Thr1249Ile T1249I pathogenic Insufficiently evaluated pathogenic unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.028 Y - 3 - 3 N 10 - - DCX Ala71Ser A71S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 5 - - DCX Arg59Leu R59L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - DCX Arg78His R78H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - DCX Arg89Gly R89G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - DCX Arg192Trp R192W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 7 - - DCX Arg196His R196H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - DCX Asp62Asn D62N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - DCX Ser47Arg S47R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - DCX Thr203Arg T203R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - DCX Tyr125His Y125H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - DDB2 Arg273His R273H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 1 - 5 N 10 - - DDB2 Arg313Stop R313X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - DDB2 Asp307Tyr D307Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 7 Y 5 N 2 - - DDB2 Lys244Glu K244E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 0 - 5 N 10 - - DDC Ala91Val A91V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.96 Y - 2 - 5 N 5 - - DDC Ala275Thr A275T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 1 - 5 N 3 - - DDC Gly102Ser G102S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 8 - - DDC Phe309Leu F309L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 2 - - DDC Ser147Arg S147R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 3 - 5 N 3 - - DDC Ser250Phe S250F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 5 Y 5 N 5 - - DDR2 Arg752Cys R752C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - DDR2 Ile726Arg I726R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - DDR2 Thr713Ile T713I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - DES Ala337Pro A337P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.418 Y Y 2 - 5 N 10 - - DES Ala360Pro A360P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.925 Y Y 2 - 6 N 10 - - DES Arg350Pro R350P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 5 Y 6 N 10 - - DES Arg406Trp R406W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - DES Asn393Ile N393I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - DES Gln389Pro Q389P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 6 - - DES Ile451Met I451M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.73 Y Y -1 - 5 N 10 - - DES Leu345Pro L345P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 10 - - DES Leu385Pro L385P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 6 - - DES Thr442Ile T442I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 3 - 4 N 8 - - DFNB59 Arg167Stop R167X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - DFNB59 Arg183Trp R183W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 7 Y 5 N 10 - - DFNB59 Thr54Ile T54I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - DGUOK Arg105Stop R105X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DGUOK Arg142Lys R142K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -3 - 6 N 3 - - DGUOK Asp255Tyr D255Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.438 Y Y 7 Y 5 N 10 - - DGUOK Glu227Lys E227K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 9 - - DHCR24 Glu191Lys E191K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 0 - 5 N 5 - - DHCR24 Tyr471Ser Y471S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 6 - - DHCR7 Arg352Gln R352Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - DHCR7 Arg352Trp R352W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - DHCR7 Arg404Cys R404C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - DHCR7 Glu37Stop E37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - DHCR7 Glu448Lys E448K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 10 - - DHCR7 Gly244Arg G244R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 2 - - DHCR7 His119Leu H119L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 2 - - DHCR7 Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y -3 - 6 N 2 - - DHCR7 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.403 Y Y 0 - 5 N 1 - - DHCR7 Phe284Leu F284L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - DHCR7 Thr93Met T93M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y Y 2 - 6 N 10 - - DHCR7 Thr289Ile T289I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y Y 3 - 4 N 10 - - DHCR7 Trp151Stop W151X pathogenic Insufficiently evaluated pathogenic unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - DHCR7 Trp248Cys W248C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 1 - - DHCR7 Tyr280Cys Y280C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - DHCR7 Val326Leu V326L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.725 Y Y 0 - 5 N 10 - - DHH Leu162Pro L162P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 6 - - DHH Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - DICER1 Arg534Stop R534X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DICER1 Arg934Stop R934X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DICER1 Glu493Stop E493X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DICER1 Leu1583Arg L1583R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.949 - - 6 Y 4 N - - DJ1 Ala39Ser A39S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 3 - - DJ1 Asp149Ala D149A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - DJ1 Glu64Asp E64D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - DJ1 Leu166Pro L166P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - DJ1 Met26Ile M26I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - DKC1 Ala353Val A353V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.098 Y Y 2 - 4 N 10 - - DKC1 Gln31Lys Q31K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y -2 - 6 N 4 - - DKC1 Gly402Glu G402E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 6 Y 6 N 9 - - DKC1 Ile38Thr I38T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.913 Y Y 3 - 6 N 3 - - DKC1 Leu72Tyr L72Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - DKC1 Phe36Val F36V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y Y 3 - 6 N 1 - - DKC1 Pro40Arg P40R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 5 Y 6 N 3 - - DKC1 Ser121Gly S121G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.045 Y Y 2 - 4 N 5 - - DKC1 Thr49Met T49M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y Y 2 - 6 N 6 - - DKC1 Thr357Ala T357A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.037 Y Y 1 - 4 N 4 - - DLAT Phe576Leu F576L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - DLC1 Thr522Ala T522A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - DLD Arg460Gly R460G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 5 - - DLD Glu375Lys E375K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - DLD Gly229Cys G229C pathogenic High clinical importance, pathogenic recessive Array 1 10758 0.000092954 0 0 0 0 0 - - - - 5 - 3 - 5 - 1 - Y Y - - - Y - 7 Y 4 N 10 2 2 Causes dihydrolipoyl dehydrogenase deficiency in a recessive manner, a severe condition affecting several body systems. Recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012744) this was is original reported by Shaag et al 1999 (PMID: 9934985) who found this variant causal in 12 of 14 mutant alleles in 7 Ashkenazi families. DLD Ile393Thr I393T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - DLD Lys37Glu K37E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 9 - - DLD Met361Val M361V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - DLD Pro453Leu P453L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 3 - - DLL3 Arg238Stop R238X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - DLL3 Gly385Asp G385D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.935 Y Y 4 Y 6 N 4 - - DLL3 Gly504Asp G504D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.27 Y Y 4 Y 5 N 8 - - DMD Ala168Asp A168D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 5 Y 6 N 1 - - DMD Ala3421Val A3421V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y Y 2 - 6 N - - DMD Arg145Stop R145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - DMD Arg1314Stop R1314X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Arg1967Stop R1967X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - DMD Arg2098Stop R2098X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Arg2905Stop R2905X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - DMD Arg2982Stop R2982X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - DMD Arg3190Stop R3190X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - DMD Arg3370Stop R3370X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - DMD Arg3381Stop R3381X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - DMD Asn2912Asp N2912D pathogenic Insufficiently evaluated pathogenic unknown Array rs1800278 272 8759 0.0310538 3 0 5 0 0 - - - - - - - - - - - - Y Y - - 0.059 Y Y -1 - 4 N 5 - - DMD Cys3340Tyr C3340Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - DMD Gln60Stop Q60X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - DMD Gln85Stop Q85X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - DMD Gln242Stop Q242X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Gln497Stop Q497X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Gln673Stop Q673X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Gln1041Stop Q1041X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Gln1405Stop Q1405X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Gln1472Stop Q1472X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Gln1851Stop Q1851X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Gln2125Stop Q2125X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Gln2264Stop Q2264X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Gln2319Stop Q2319X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Glu250Stop E250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - DMD Glu931Stop E931X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Glu1157Stop E1157X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Glu2468Stop E2468X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Glu2910Val E2910V pathogenic Insufficiently evaluated pathogenic unknown Array rs41305353 260 8759 0.0296838 3 0 5 0 0 - - - - - - - - - - - - Y Y - - 0.77 Y Y 5 Y 5 N 5 - - DMD Gly480Stop G480X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD His2921Arg H2921R benign Low clinical importance, Uncertain benign unknown Array rs1800279 181 8759 0.0206645 1 0 1 1 1 1 Y - - 3 Y - - - - - - Y Y - - - Y Y 1 - 5 N 1 0 0 Thought to be a rare nonpathogenic polymorphism. DMD Leu54Arg L54R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.912 Y Y 6 Y 6 N 10 - - DMD Lys770Stop K770X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Lys773Glu K773E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y 0 - 6 N - - DMD Ser3066Stop S3066X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Thr279Ala T279A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.742 Y Y 1 - 5 N 4 - - DMD Trp651Stop W651X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMD Trp1063Stop W1063X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - DMD Tyr231Asn Y231N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 2 - - DMD Tyr1995Stop Y1995X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - DMGDH His81Arg H81R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - DMP1 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.481 Y - 0 - 4 N 10 - - DNAH11 Arg2852Stop R2852X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 10 - - DNAH11 Tyr4128Stop Y4128X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 7 - - DNAH5 Gln610Stop Q610X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - DNAH5 Gly3519Arg G3519R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 6 - - DNAI1 Gly515Ser G515S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.891 Y Y 2 - 6 N 6 - - DNAI2 Arg263Stop R263X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 3 - - DNASE1 Gln244Arg Q244R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - DNASE1 Lys5Stop K5X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DNM1L Ala395Asp A395D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.882 - - 5 Y 4 N - - DNM2 Arg369Gln R369Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.962 Y - 0 - 5 N 8 - - DNM2 Arg369Trp R369W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 8 - - DNM2 Arg465Trp R465W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - DNM2 Glu368Lys E368K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.021 Y - 0 - 3 N 10 - - DNM2 Gly533Cys G533C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 3 - - DNM2 Leu566His L566H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - DNM2 Lys558Glu K558E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - DNM2 Ser619Leu S619L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - DNM2 Ser619Trp S619W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - DNMT3B Ala603Thr A603T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.946 - - 1 - 4 N - - DNMT3B Arg832Gln R832Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.969 - - 0 - 4 N - - DNMT3B Asp809Gly D809G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - DNMT3B Gln42Stop Q42X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DNMT3B Gly655Ser G655S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - DNMT3B Leu656Thr L656T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - DNMT3B Ser282Pro S282P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - DNMT3B Val718Gly V718G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - DNMT3B Val726Gly V726G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - DNMT3B Val810Met V810M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - DOK7 Arg201Stop R201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - DOK7 Gly180Ala G180A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N - - DPAGT1 Tyr170Cys Y170C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 9 - - DPM1 Arg92Gly R92G pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - DPM3 Leu85Ser L85S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - DPYD Arg886His R886H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y - 1 - 5 N 10 - - DPYD Asp974Val D974V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 8 Y 5 N 2 - - DPYD Cys29Arg C29R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y - Y - 8 Y 4 N 9 - - DPYS Gln334Arg Q334R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N - - DPYS Gly435Arg G435R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N - - DPYS Trp360Arg W360R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - DRD2 Val154Ile V154I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.778 Y Y -4 - 5 N 6 - - DRD3 Ser9Gly S9G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 1 - - - - - - - - - - - - Y Y - Y - - - 2 - 3 N 9 - - DRD4 Val194Gly V194G pathogenic Insufficiently evaluated pathogenic unknown Array 173 10752 0.01609 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - DSC3 Leu710Stop L710X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - DSG2 Arg45Gln R45Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - DSG2 Arg48His R48H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - DSG2 Asn266Ser N266S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - DSG2 Cys506Tyr C506Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - DSG2 Glu331Lys E331K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 3 - - DSG2 Gly811Cys G811C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - DSG2 Trp305Stop W305X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - DSG2 Val55Met V55M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - DSP Arg1267Stop R1267X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - DSP Arg1934Stop R1934X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - DSP Arg2366Cys R2366C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - DSP Arg2834His R2834H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.941 Y Y 1 - 6 N 10 - - DSP Asn287Lys N287K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y Y 1 - 6 N 4 - - DSP Cys809Stop C809X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - DSP Gln331Stop Q331X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - DSP Gln664Stop Q664X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - DSP Ser299Arg S299R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.912 Y Y 3 - 6 N 10 - - DSP Val30Met V30M pathogenic Insufficiently evaluated pathogenic unknown Array 16 10644 0.00150319 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - DSPP Ala15Val A15V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - 2 Y 3 - 1 - - Y - - - - - 2 - 3 N - - This variant was found to segregrate with Dentinogenesis Imperfecta type II in a single family of Central American descent with LOD = 3.3. This gene is associated with the disease, but no other cases have been reported. DSPP Asp6Tyr D6Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - DSPP Gln45Stop Q45X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DSPP Pro17Thr P17T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - DSPP Val18Phe V18F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - DTNA Pro121Leu P121L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - DTNBP1 Gln103Stop Q103X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - DUOX2 Arg376Trp R376W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - DUOX2 Arg434Stop R434X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - DUOX2 Arg842Stop R842X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - DUOX2 Gln686Stop Q686X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - DUOXA2 Tyr246Stop Y246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DYM Asn469Tyr N469Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - DYM Cys542Arg C542R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - DYM Glu87Lys E87K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.943 - - 0 - 4 N - - DYM Tyr16Stop Y16X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DYM Tyr132Stop Y132X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DYNC2H1 Arg587Cys R587C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - DYNC2H1 Arg2205His R2205H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.906 - - 1 - 4 N - - DYNC2H1 Arg2838Stop R2838X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DYNC2H1 Asp3015Gly D3015G pathogenic Insufficiently evaluated pathogenic unknown Array 2 9678 0.000206654 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.992 - - 4 Y 4 N - - DYNC2H1 Gln1537Arg Q1537R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - DYNC2H1 Gly2461Val G2461V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.576 - - 8 Y 3 N - - DYNC2H1 Gly3355Stop G3355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - DYNC2H1 Ile1240Thr I1240T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.983 - - 3 - 4 N - - DYNC2H1 Met1991Leu M1991L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.093 - - -3 - 2 N - - DYNC2H1 Met3762Val M3762V pathogenic Insufficiently evaluated pathogenic unknown Array 8 9616 0.000831946 1 0 1 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - DYNC2H1 Thr1987Ala T1987A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.993 - - 1 - 4 N - - DYSF Arg1046His R1046H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 3 - - DYSF Arg1905Stop R1905X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - DYSF Arg2042Cys R2042C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 3 - - DYSF Asp625Tyr D625Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 6 - - DYSF Gln605Stop Q605X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - DYSF Glu1734Gly E1734G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 6 Y 4 N 5 - - DYSF Gly299Arg G299R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 2 - - DYSF Gly299Trp G299W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 2 - - DYSF Gly519Arg G519R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 6 - - DYSF Ile1298Val I1298V pathogenic Insufficiently evaluated pathogenic unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 4 - - DYSF Pro791Arg P791R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 2 - - DYSF Trp999Cys W999C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - DYSF Val67Asp V67D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.748 Y Y 8 Y 5 N 2 - - DYT1 Asp216His D216H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - EBP Arg63Stop R63X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - EBP Arg147His R147H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 1 - 5 N 10 - - EBP Gln175Stop Q175X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - EBP Glu80Lys E80K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 10 - - EBP Leu18Pro L18P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.903 Y - 7 Y 5 N 10 - - EBP Trp29Stop W29X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - EBP Trp129Stop W129X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - EBP Trp196Stop W196X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - ECE1 Arg742Cys R742C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 8 Y 4 N 4 - - ECM1 Arg53Stop R53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ECM1 Gln346Stop Q346X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ECM1 Phe167Ile F167I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - ECM1 Trp160Stop W160X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EDA Arg65Gly R65G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - EDA Arg69Leu R69L pathogenic Insufficiently evaluated pathogenic unknown Array 32 8761 0.00365255 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - EDA Arg155Cys R155C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - EDA Arg156Cys R156C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 8 - - EDA Arg156His R156H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - EDA Gln23Stop Q23X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - EDA Gln358Glu Q358E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 Y Y -2 - 6 N 6 - - EDA Glu63Lys E63K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - EDA Gly224Ala G224A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - EDA Pro209Leu P209L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - EDA Thr338Met T338M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 2 - 6 N 5 - - EDA Tyr61His Y61H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.022 Y Y -1 - 4 N 9 - - EDA Tyr61Stop Y61X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - EDAR Arg89His R89H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y Y 1 - 6 N 2 - - EDAR Arg358Stop R358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - EDAR Arg375His R375H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - EDAR Arg420Gln R420Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 4 - - EDAR Asp110Ala D110A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y Y 5 Y 6 N 2 - - EDAR Cys87Arg C87R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 8 Y 6 N - - EDAR Glu354Stop E354X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - EDARADD Glu142Lys E142K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - EDARADD Leu112Arg L112R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - EDN3 Ala17Thr A17T pathogenic Insufficiently evaluated pathogenic unknown Array 3 10672 0.000281109 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y Y 1 - 4 N 10 - - EDN3 Ala224Thr A224T pathogenic Insufficiently evaluated pathogenic other Array rs11570351 19 10758 0.00176613 1 0 1 1 1 1 Y - - 0 Y 0 Y 1 Y 4 Y Y Y - - 0.035 Y Y 1 - 4 N 9 - - Found heterozygously in one patient with Hirschsprung disease, potentially causes increased susceptibility. The gene is associated with this disease but evidence is weak. EDN3 Cys159Phe C159F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 2 - - EDN3 Cys169Stop C169X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - EDNRB Ala183Gly A183G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.033 Y Y 1 - 4 N 10 - - EDNRB Arg201Stop R201X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - EDNRB Arg253Stop R253X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - EDNRB Gly57Ser G57S pathogenic Insufficiently evaluated pathogenic unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - EDNRB Ser305Asn S305N pathogenic Insufficiently evaluated pathogenic unknown Array rs5352 111 10756 0.0103198 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.008 Y Y 0 - 4 N 10 - - EDNRB Trp275Stop W275X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - EDNRB Trp276Cys W276C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - EFEMP1 Arg345Trp R345W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y - 7 Y 5 N 10 - - EFEMP2 Arg279Cys R279C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 - - 8 Y 4 N 1 - - EFEMP2 Glu57Lys E57K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 - - 0 - 4 N 4 - - EFHC1 Arg182His R182H benign Low clinical importance, Likely benign unknown Array rs3804505 473 10758 0.0439673 8 0 8 2 2 1 Y 1 Y 3 Y - - - - - - Y Y - - 0.038 Y - 1 - 3 N 10 0 1 Probably benign. OMIM appears to incorrectly interpret literature as linking this variant to juvenile myoclonic epilepsy; the authors report it as a polymorphism. EFHC1 Asp210Asn D210N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - -1 - 5 N 8 - - EFHC1 Asp253Tyr D253Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.919 Y - 7 Y 5 N 9 - - EFHC1 Cys259Tyr C259Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.699 Y - 6 Y 4 N 8 - - EFHC1 Gln277Stop Q277X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - EFHC1 Ile174Val I174V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 10 - - EFHC1 Phe229Leu F229L pathogenic Insufficiently evaluated pathogenic unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.797 Y - 0 - 4 N 10 - - EFNB1 Arg66Stop R66X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - EFNB1 Gly151Ser G151S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 3 - - EFNB1 Gly151Val G151V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - EFNB1 Met158Ile M158I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 1 - - EFNB1 Met158Val M158V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 1 - - EFNB1 Pro54Leu P54L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - EFNB1 Thr111Ile T111I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 10 - - EFNB1 Trp37Gly W37G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - EFNB1 Trp37Stop W37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - EGF Pro1070Leu P1070L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.913 - - 7 Y 4 N - - EGFR Gly719Cys G719C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 10 - - EGFR Gly719Ser G719S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.962 Y - 2 - 5 N 10 - - EGFR Leu858Arg L858R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y - 6 Y 5 N 10 - - EGFR Thr790Met T790M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - EGLN1 Arg371His R371H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.898 - - 1 - 4 N - - EGLN1 His374Arg H374R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - EGLN1 Pro317Arg P317R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.895 - - 5 Y 4 N - - EGR2 Arg359Trp R359W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 10 - - EGR2 Arg409Trp R409W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 7 Y 6 N 10 - - EGR2 Glu412Lys E412K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.637 Y Y 0 - 5 N 3 - - EGR2 Ile268Asn I268N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.941 Y Y 7 Y 6 N 10 - - EHMT1 Arg1137Stop R1137X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - EIF2AK3 Arg587Gln R587Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - EIF2AK3 Glu331Stop E331X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - EIF2B1 Asn208Tyr N208Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 3 - - EIF2B2 Arg183Stop R183X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - EIF2B2 Glu213Gly E213G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - EIF2B2 Ser171Phe S171F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 7 - - EIF2B2 Val316Asp V316D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 8 Y 6 N 8 - - EIF2B3 Ala87Val A87V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.073 Y Y 2 - 4 N 4 - - EIF2B3 Arg225Gln R225Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y 0 - 6 N 3 - - EIF2B3 Ile346Thr I346T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.012 Y Y 3 - 4 N 7 - - EIF2B4 Ala228Val A228V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - EIF2B4 Arg357Gln R357Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - EIF2B4 Arg374Cys R374C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 9 - - EIF2B4 Cys465Arg C465R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - EIF2B4 Tyr489His Y489H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 9 - - EIF2B5 Arg113His R113H pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 10 - - EIF2B5 Arg195Cys R195C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 8 - - EIF2B5 Arg195His R195H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 1 - 6 N 10 - - EIF2B5 Arg315His R315H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y 1 - 4 N 5 - - EIF2B5 Gly386Val G386V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y Y 8 Y 6 N 6 - - EIF2B5 Leu309Val L309V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - EIF2B5 Phe56Cys F56C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 1 - - EIF2B5 Phe56Val F56V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 3 - 6 N 3 - - EIF2B5 Thr91Ala T91A pathogenic High clinical importance, Likely pathogenic recessive Array rs28939717 1 128 0.0078125 1 0 1 1 1 0 Y - - 5 Y - - 5 - 1 - Y Y - - 0.074 Y Y 1 - 4 N 10 2 1 Recessive, reported to cause leukoencephalopathy with vanishing white matter (a degenerative brain disease that manifests in childhood). Published observations of this variant were all linked to a common haplotype, indicating a single founder mutation, and carriers all had ancestors that lived in a rural region in the eastern part of the Netherlands. EIF2B5 Thr182Met T182M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 2 - 6 N 5 - - EIF2B5 Trp628Arg W628R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - ELA2 Ala32Val A32V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 3 - - ELA2 Arg191Gln R191Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 8 - - ELA2 Cys42Arg C42R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 2 - - ELA2 Gly185Arg G185R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - ELA2 Leu177Phe L177F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - ELA2 Pro110Leu P110L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - ELA2 Ser97Leu S97L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - ELA2 Val72Met V72M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 10 - - ELAC2 Ala541Thr A541T pathogenic Low clinical importance, Uncertain pathogenic unknown Array rs34152967 297 10758 0.0276074 3 0 3 8 8 0 Y - - 2 Y - - 2 Y 0 Y Y Y - - 0.007 Y - 1 - Prostate cancer 55 855 40 1068 1.718 3 N 9 0 0 This variant is implicated as causing increased susceptibility to prostate cancer. However the variant has always been seen paired with S217L, it is unclear which variant is causal. Evidence is weak for both; one meta-analysis (Severi et al.) concluded that neither variant was pathogenic, a more recent meta-analysis (Xu et al.) found the data to be significant but the odds ratio was not strong and concluded they are "low-penetrance susceptibility markers of prostate cancer". ELAC2 Arg781His R781H pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 1 - 5 N 6 - - ELAC2 Glu622Val E622V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.022 Y - 5 Y 3 N 7 - - ELN Arg570Stop R570X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - ELN Gln442Stop Q442X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ELN Lys176Stop K176X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ELN Tyr150Stop Y150X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ELOVL4 Tyr270Stop Y270X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - EMD Gln43Stop Q43X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - EMD Pro183His P183H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y Y 5 Y 6 N 10 - - EMD Pro183Thr P183T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y Y 4 Y 6 N 5 - - EMG1 Asp86Gly D86G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - ENAM Lys53Stop K53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ENG Gly413Val G413V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 5 - - ENG Tyr120Stop Y120X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - ENG Tyr277Stop Y277X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ENO3 Gly156Asp G156D pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.987 - - 4 Y 4 N - - ENO3 Gly374Glu G374E pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - ENPP1 Arg774Cys R774C benign Low clinical importance, Uncertain benign undefined Array rs28933977 278 10758 0.0258412 1 0 1 2 2 - - - - 1 Y 0 Y 0 - 0 - - Y - - 0.746 - - 8 Y 3 N 0 0 Tentatively classified as benign. Initially reported as a recessive cause of infantile arterial calcification, but with no statistical significance. Other variants have been implicated as causal in these cases this variant. 5% allele frequency in caucasians contradicts this variant as having any highly pathogenic effect. ENPP1 Glu893Stop E893X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ENPP1 Gly342Val G342V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 8 Y 2 N - - ENPP1 Leu579Phe L579F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.503 - - 0 - 3 N - - ENPP1 Lys121Gln K121Q pathogenic Insufficiently evaluated pathogenic unknown Array rs1044498 41 124 0.330645 24 0 36 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 2 N - - ENPP1 Tyr371Phe Y371F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.882 - - -4 - 4 N - - EP300 Arg580Stop R580X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - EP300 Arg648Stop R648X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - EP300 Pro2221Gln P2221Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - EPAS1 Gly537Arg G537R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - EPAS1 Gly537Trp G537W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - EPAS1 Met535Val M535V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 0 - 4 N - - EPB41 Met1Arg M1R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.877 - - 4 Y 4 N - - EPB41 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.928 - - 2 - 4 N - - EPB42 Ala142Thr A142T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - EPB42 Arg310Gln R310Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - EPHA2 Arg721Gln R721Q pathogenic Moderate clinical importance, Likely pathogenic dominant Array 11 10758 0.00102249 1 0 1 1 1 1 Y - - 5 Y 0 Y 3 Y 1 Y - Y - - - - - 0 - 3 N 1 1 This variant is associated with an increased risk of cataracts in old age, acting in a dominant fashion. Jun et al. report 78% of carriers who are over 70 years old had cataracts. Cataracts are common in older individuals in general (we estimate ~20% have cortical cataracts in this age range on average), but this still implies a significant increased risk. EPHA2 Gly948Trp G948W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - EPHA2 Thr940Ile T940I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - EPHB2 Ala279Ser A279S pathogenic Insufficiently evaluated pathogenic unknown Array rs35882952 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - Y - - 0.001 - - -1 - 2 N - - EPHB2 Asp679Asn D679N pathogenic Insufficiently evaluated pathogenic unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - EPHB2 Gln723Stop Q723X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EPHB2 Lys1019Stop K1019X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EPM2A Arg45Cys R45C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - EPM2A Arg90His R90H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - EPM2A Arg160Stop R160X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - EPM2A Arg168Stop R168X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - EPM2A Arg241Stop R241X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - EPM2A Gly198Ser G198S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - EPM2A Gly216Ser G216S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - EPM2A Trp32Gly W32G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - EPOR Asn487Ser N487S benign Low clinical importance, Likely benign unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - 5 Y - - - - - - - Y - - 0.47 - - 0 - 3 N 0 1 Reported to cause familial erythrocytosis in a dominant fashion, as recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000018068/). This assertion comes from Le Couedic et al 1996 (PMID: 8608241), who studied 47 cases of erythroleukemia and polycythemia. In contrast to OMIM's record, Le Couedic et al do not seem to have asserted the variant causes familial disorder; rather, they seem to hypothesize it is a somatic mutation playing a role in cancer development. (Tangentially, this hypothesis is probably also mistaken, as ExAC allele frequency data indicates the variant often inherited.) The assertion recorded in ClinVar may reflect a mistake in transcription or interpretation of this literature. EPOR Trp439Stop W439X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EPOR Tyr426Stop Y426X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EPX Arg286His R286H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - ERBB2 Asn857Ser N857S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.174 - - 0 - 2 N - - ERBB2 Glu914Lys E914K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - ERBB2 Gly776Ser G776S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.988 - - 2 - 4 N - - ERBB2 Leu755Pro L755P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - ERBB2 Val654Ile V654I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - ERBB2 Val655Ile V655I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - ERCC1 Gln158Stop Q158X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 3 - - ERCC1 Phe231Leu F231L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 0 - 4 N 3 - - ERCC2 Ala725Pro A725P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.94 - Y 2 - 5 N 2 - - ERCC2 Arg112His R112H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 1 - 5 N 10 - - ERCC2 Arg616Trp R616W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 7 Y 5 N 9 - - ERCC2 Arg658Cys R658C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 8 Y 5 N 10 - - ERCC2 Arg683Trp R683W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 7 Y 5 N 10 - - ERCC2 Arg722Trp R722W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 7 Y 5 N 10 - - ERCC2 Asp681Asn D681N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y -1 - 5 N 10 - - ERCC2 Gln726Stop Q726X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - ERCC2 Gly713Arg G713R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 - Y 6 Y 3 N 7 - - ERCC2 Leu461Val L461V benign Low clinical importance, Likely benign undefined Array 3 10758 0.000278862 0 0 0 0 0 - - - - 5 Y 0 - - - - - Y Y - - 0.615 - Y 0 - 4 N 10 0 1 Reported to cause Xeroderma Pigmentosum (XP) and Photosensitive Trichothiodystrophy (TTD) in a recessive manner. These effects are recorded in ClinVar by OMIM and come, respectively, from Frederick et al 1994 (PMID: 7849702), and Takayama et al 1996 & Takayama et al 1997 (PMID: 8571952 & PMID: 9195225). Notably, the latter papers implicated this variant only in combination with a 15 amino acid deletion on the same chromosome (expected to have a more severe effect – so this variant may have been coincidental and not causal). In ExAC data this variant has an allele frequency of 0.7% in South Asian ancestry, which means at least 1 in 20,000 with South Asian ancestry are expected to be homozygous. In contrast, XP and TTD are both much rarer, with incidences of 1 inn 250,000 to 1,000,000. This information, combined with a lack of more recent confirming literature, indicates the reported effects should probably be considered disproven. ERCC2 Leu485Pro L485P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 - Y 7 Y 5 N 3 - - ERCC2 Ser541Arg S541R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 3 - 5 N 5 - - ERCC3 Arg425Stop R425X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 8 - - ERCC3 Gln545Stop Q545X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 8 - - ERCC3 Phe99Ser F99S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 5 Y 5 N 10 - - ERCC3 Thr119Pro T119P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 4 Y 5 N 10 - - ERCC4 Arg153Pro R153P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 5 Y 5 N 2 - - ERCC4 Arg788Trp R788W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 10 - - ERCC5 Ala792Val A792V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 2 - 4 N 4 - - ERCC5 Ala874Thr A874T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 1 - 4 N 1 - - ERCC5 Arg263Stop R263X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - ERCC5 Gln136Stop Q136X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 1 - - ERCC5 Gln176Stop Q176X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 1 - - ERCC5 Glu960Stop E960X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - ERCC5 Leu858Pro L858P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 2 - - ERCC5 Pro72His P72H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 5 Y 4 N 1 - - ERCC6 Arg77Stop R77X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ERCC6 Arg453Stop R453X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ERCC6 Arg683Stop R683X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ERCC6 Arg735Stop R735X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ERCC6 Leu987Pro L987P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 7 Y 6 N 1 - - ERCC6 Pro1095Arg P1095R pathogenic Insufficiently evaluated pathogenic recessive Array rs4253208 145 10758 0.0134783 2 0 2 1 1 1 Y 0 Y 0 Y 0 Y 5 - 1 - Y Y - - - Y Y 5 Y 5 N 3 - - This variant is implicated in causing Cockayne Syndrome in a recessive manner. Although other variants in this gene cause this disease, the only observations supporting this variant is its presence in a single case: a black patient compound heterozygous with a frameshift mutation (and an irrelevant stop codon mutation) on the other allele. ERCC6 Trp517Stop W517X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ERCC8 Ala160Val A160V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.47 Y Y 2 - 5 N 5 - - ERCC8 Ala205Pro A205P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.067 Y Y 2 - 4 N 10 - - ERCC8 Glu13Stop E13X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ERCC8 Tyr322Stop Y322X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - ERMAP Glu47Lys E47K pathogenic Insufficiently evaluated pathogenic unknown Array 5 10746 0.000465289 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.003 Y Y 0 - 4 N - - ERMAP Gly57Arg G57R pathogenic Insufficiently evaluated pathogenic unknown Array 23 10750 0.00213953 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.028 Y Y 6 Y 4 N - - ERMAP Pro60Ala P60A pathogenic Insufficiently evaluated pathogenic unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.341 Y Y 2 - 5 N - - ESCO2 Arg169Stop R169X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - ESCO2 Gln202Stop Q202X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ESCO2 Trp423Stop W423X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - ESCO2 Trp539Gly W539G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - ESPN Arg774Gln R774Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.398 - - 0 - 3 N - - ESPN Asp744Asn D744N pathogenic Insufficiently evaluated pathogenic unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.99 - - -1 - 4 N - - ESPN Ser719Arg S719R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.27 - - 3 - 3 N - - ESR1 Arg157Stop R157X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ESR1 Cys447Ala C447A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - ESR1 Val364Glu V364E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - ESRRB Ala110Val A110V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 2 - 4 N - - ESRRB Val342Leu V342L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.041 - - 0 - 2 N - - ETFA Gly116Arg G116R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 1 - - ETFA Thr266Met T266M pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 3 - - ETFA Val157Gly V157G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 8 Y 5 N 1 - - ETFB Arg164Gln R164Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N - - ETFB Asp128Asn D128N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 10 - - ETFDH Ala84Thr A84T pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 6 - - ETFDH Arg175Leu R175L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - ETFDH Leu127His L127H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - ETFDH Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - ETHE1 Arg163Trp R163W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - ETHE1 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.537 Y - -1 - 4 N 8 - - ETV6 Glu76Stop E76X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EVC Arg340Stop R340X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - EVC Gln879Stop Q879X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - EVC Ser307Pro S307P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 3 - 5 N 8 - - EVC2 Arg399Stop R399X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - EVC2 Arg870Trp R870W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - EVC2 Gln619Stop Q619X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - EVC2 Gln1009Stop Q1009X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - EVC2 Ile283Arg I283R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y - 7 Y 5 N 3 - - EVER1 Arg94Stop R94X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EVER1 Glu576Stop E576X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EVER1 Tyr248Stop Y248X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EVER2 Glu362Stop E362X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - EXT1 Arg340Cys R340C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - EXT1 Arg340Leu R340L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - EXT1 Gly339Asp G339D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.932 Y Y 4 Y 6 N 10 - - EXT1 Tyr119Stop Y119X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - EXT2 Asp227Asn D227N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -1 - 6 N 10 - - EXT2 Gln172Stop Q172X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - EXT2 Tyr222Stop Y222X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - EYA1 Arg275Stop R275X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - EYA1 Arg328Stop R328X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - EYA1 Arg407Gln R407Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - EYA1 Arg514Gly R514G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - EYA1 Glu330Lys E330K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - EYA1 Gly393Ser G393S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - EYA1 Leu472Arg L472R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - EYA1 Ser454Pro S454P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 9 - - EYS Glu1953Stop E1953X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - EYS Tyr3156Stop Y3156X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - F10 Arg287Trp R287W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N - - F10 Arg366Cys R366C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 1 - - F10 Asp282Asn D282N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - F10 Glu7Gly E7G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - F10 Glu14Gly E14G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - F10 Glu14Lys E14K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - F10 Glu32Gln E32Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 8 - - F10 Glu102Lys E102K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - F10 Gly249Arg G249R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - F10 Pro343Ser P343S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - F10 Ser334Pro S334P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - F10 Val298Met V298M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - F11 Ala412Val A412V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - F11 Arg308Cys R308C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - F11 Cys38Arg C38R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - F11 Cys128Stop C128X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - F11 Glu117Stop E117X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - Factor XI Deficiency F11 Gly400Val G400V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - F11 Lys252Ile K252I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - F11 Phe283Leu F283L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - Factor XI Deficiency F11 Phe442Val F442V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - F11 Ser576Arg S576R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - F11 Thr386Asn T386N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - F11 Trp569Ser W569S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - F12 Arg353Pro R353P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.394 Y - 5 Y 4 N - - F12 Cys571Ser C571S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - F12 Thr309Arg T309R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - F12 Thr309Lys T309K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - F12 Tyr34Cys Y34C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 9 - - F13A1 Arg171Stop R171X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - F13A1 Arg260His R260H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - F13A1 Arg326Gln R326Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - F13A1 Arg681His R681H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - F13A1 Asn60Lys N60K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - F13A1 Gly501Arg G501R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - F13A1 Gly562Arg G562R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - F13A1 Tyr283Cys Y283C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - F13A1 Tyr441Stop Y441X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - F13A1 Val34Leu V34L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - F13A1 Val316Phe V316F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - F13A1 Val414Phe V414F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - F13B Cys430Phe C430F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - F13B His95Arg H95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 6 - - F2 Arg67His R67H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - F2 Arg98Trp R98W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - F2 Arg271Cys R271C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - F2 Arg382Cys R382C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - F2 Arg388His R388H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - F2 Asp552Glu D552E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - F2 Glu157Lys E157K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - F2 Glu300Lys E300K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - F2 Glu309Lys E309K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - F2 Gly558Val G558V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F2 Met337Thr M337T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - F5 Arg306Gly R306G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - F5 Arg306Thr R306T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 9 - - F5 Arg506Gln R506Q pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 3 3 2 Y 1 Y - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - Factor V Leiden. This variant has been shown to increase blood coagulation and therefore embolism susceptibility. The variant evidence, computational PolyPhen, indicates that this is of likely clinical importance. Functional evidence is that the protein produced by the Factor V gene cannot be normally cut by another protein if there is this variation. There is extensive case/control and familial evidence in numerous literature citations. Most heterozygotes never show any symptoms, which would be embolisms. Embolisms, however, can be very serious. Blood coagulation can be returned to normal levels using the inexpensive medicine Warfarin. The appropriate Warfarin dosing varies from person to person in part dependent upon SNPs in other genes. Diet and lifestyle also have an impact; certain foods like spinach and miso have substantial coagulation impacts and need to be taken into consideration. Individuals with this variation need to be particularly careful on long airplane flights, as the change in pressure and low humidity will increase the chance of unnecessary clotting. This mutation also has interactions with certain birth control medications. F5 Arg1133Stop R1133X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - F5 Arg2074Cys R2074C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - F5 Gln773Stop Q773X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - F5 Glu119Stop E119X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F5 Ile359Thr I359T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - F5 Tyr1702Cys Y1702C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - F7 Ala244Val A244V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - F7 Ala294Val A294V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - F7 Arg247His R247H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 3 - - F7 Arg304Gln R304Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - F7 Arg353Gln R353Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - F7 Asn57Asp N57D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - F7 Cys61Stop C61X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - F7 Cys178Tyr C178Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - F7 Cys310Phe C310F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 8 - - F7 Cys329Gly C329G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - F7 Gln211Stop Q211X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - F7 Glu25Lys E25K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - F7 Gly354Cys G354C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - F7 His348Gln H348Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 3 - - F7 Phe328Ser F328S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 2 - - F7 Thr359Met T359M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 4 - - F8 Ala644Val A644V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - F8 Ala704Thr A704T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - F8 Ala1834Val A1834V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - F8 Ala2192Pro A2192P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - F8 Arg282His R282H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - F8 Arg282Leu R282L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - F8 Arg336Stop R336X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - F8 Arg372Cys R372C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - F8 Arg372His R372H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - F8 Arg427Stop R427X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - F8 Arg527Trp R527W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - F8 Arg531Cys R531C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - F8 Arg531Gly R531G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - F8 Arg531His R531H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - F8 Arg583Stop R583X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - F8 Arg593Cys R593C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - F8 Arg698Trp R698W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - F8 Arg795Stop R795X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - F8 Arg1689Cys R1689C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - F8 Arg1689His R1689H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - F8 Arg1696Gly R1696G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Arg1696Stop R1696X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Arg1781Cys R1781C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F8 Arg1781Gly R1781G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Arg1781His R1781H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - F8 Arg1941Gln R1941Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - F8 Arg1941Leu R1941L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Arg1941Stop R1941X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F8 Arg1966Stop R1966X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - F8 Arg1997Trp R1997W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - F8 Arg2116Pro R2116P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Arg2116Stop R2116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - F8 Arg2147Stop R2147X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F8 Arg2150His R2150H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - F8 Arg2159Cys R2159C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - F8 Arg2159His R2159H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - F8 Arg2159Leu R2159L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Arg2163Cys R2163C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F8 Arg2163His R2163H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - F8 Arg2209Gln R2209Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - F8 Arg2209Gly R2209G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Arg2209Leu R2209L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Arg2209Stop R2209X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - F8 Arg2304Cys R2304C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F8 Arg2304His R2304H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - F8 Arg2307Gln R2307Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - F8 Arg2307Leu R2307L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - F8 Arg2307Stop R2307X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - F8 Asn280Ile N280I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - F8 Asn612Ser N612S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - F8 Asn1922Asp N1922D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - F8 Asn1922Ser N1922S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - F8 Asn2019Ser N2019S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Asp116Gly D116G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - F8 Asp203Val D203V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F8 Asp525Asn D525N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - F8 Asp542Gly D542G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - F8 Asp1846Asn D1846N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - F8 Asp1846Tyr D1846Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - F8 Asp2074Gly D2074G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - F8 Cys179Gly C179G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - F8 Cys329Arg C329R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N - - F8 Cys329Ser C329S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 3 - 6 N 3 - - F8 Cys329Tyr C329Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - F8 Cys2105Tyr C2105Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Gln565Lys Q565K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - F8 Gln1796Stop Q1796X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Gln1874Stop Q1874X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Gln2246Arg Q2246R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Gln2270Stop Q2270X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Glu11Val E11V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - F8 Glu113Asp E113D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 5 - - F8 Glu161Stop E161X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F8 Glu272Gly E272G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Glu390Gly E390G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - F8 Glu557Stop E557X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Glu720Lys E720K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Glu1038Lys E1038K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Glu1686Stop E1686X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Glu1704Lys E1704K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - F8 Glu1885Lys E1885K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Gly22Cys G22C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - F8 Gly70Asp G70D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - F8 Gly73Val G73V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - F8 Gly111Arg G111R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - F8 Gly145Val G145V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - F8 Gly205Trp G205W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - F8 Gly247Gln G247Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Gly259Arg G259R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Gly479Arg G479R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - F8 Gly1750Arg G1750R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - F8 Gly1760Glu G1760E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N - - F8 Gly1948Asp G1948D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - F8 Gly1960Val G1960V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F8 His1848Arg H1848R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - F8 His1961Tyr H1961Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - F8 Ile386Ser I386S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - F8 Ile475Thr I475T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - F8 Ile566Thr I566T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - F8 Leu7Arg L7R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - F8 Leu98Arg L98R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - F8 Leu308Pro L308P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - F8 Leu412Phe L412F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - F8 Leu1756Phe L1756F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Leu1756Val L1756V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Leu1789Phe L1789F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Leu2166Ser L2166S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Lys89Thr K89T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - F8 Lys166Thr K166T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - F8 Lys425Arg K425R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 1 - - F8 Lys1827Stop K1827X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Met91Val M91V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - F8 Met1772Thr M1772T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - F8 Met1823Ile M1823I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - F8 Phe293Ser F293S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 6 - - F8 Phe658Leu F658L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - F8 Phe2101Leu F2101L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F8 Pro146Ser P146S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - F8 Pro1825Ser P1825S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - F8 Pro1854Arg P1854R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Pro2153Gln P2153Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - F8 Pro2300Leu P2300L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - F8 Pro2300Ser P2300S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - F8 Ser170Leu S170L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - F8 Ser289Leu S289L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - F8 Ser373Leu S373L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - F8 Ser373Pro S373P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - F8 Ser373Stop S373X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Ser535Gly S535G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - F8 Ser558Phe S558F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - F8 Ser577Pro S577P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 3 - 6 N - - F8 Ser584Ile S584I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Ser1784Tyr S1784Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Ser2069Phe S2069F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Ser2119Tyr S2119Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Thr275Ile T275I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - F8 Thr295Ala T295A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - F8 Thr1826Pro T1826P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - F8 Thr2154Ile T2154I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - F8 Trp255Stop W255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F8 Trp323Stop W323X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - F8 Trp585Cys W585C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - F8 Trp1942Stop W1942X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Trp2046Arg W2046R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - F8 Trp2229Cys W2229C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - F8 Tyr16Cys Y16C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - F8 Tyr114Cys Y114C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - F8 Tyr118Ile Y118I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - F8 Tyr431Asn Y431N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - F8 Tyr473Cys Y473C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 1 - - F8 Tyr473His Y473H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -1 - 6 N - - F8 Tyr586Ser Y586S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F8 Tyr636Stop Y636X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F8 Tyr1680Phe Y1680F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 1 - - F8 Tyr1709Cys Y1709C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F8 Val80Asp V80D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - F8 Val85Asp V85D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - F8 Val162Met V162M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - F8 Val266Gly V266G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - F8 Val326Leu V326L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - F8 Val634Ala V634A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - F8 Val634Met V634M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - F9 Ala233Thr A233T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.487 Y Y 1 - 5 N 3 - - F9 Ala291Pro A291P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - F9 Ala351Pro A351P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - F9 Ala390Glu A390E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - F9 Ala390Val A390V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - F9 Arg29Gln R29Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - F9 Arg29Stop R29X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - F9 Arg116Stop R116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F9 Arg145Cys R145C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - F9 Arg145His R145H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - F9 Arg180Gln R180Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.514 Y Y 0 - 5 N 1 - - F9 Arg180Trp R180W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 5 - - F9 Arg248Gln R248Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - F9 Arg248Stop R248X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F9 Arg252Stop R252X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F9 Arg333Gln R333Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - F9 Arg333Stop R333X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F9 Arg338Leu R338L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - F9 Arg338Pro R338P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - F9 Arg338Stop R338X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - F9 Asn120Tyr N120Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F9 Asn260Ser N260S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - F9 Asp47Gly D47G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - F9 Asp64Asn D64N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - F9 Asp64Gly D64G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - F9 Asp364His D364H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - F9 Cys18Arg C18R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 8 Y 6 N 10 - - F9 Cys206Ser C206S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - F9 Cys222Trp C222W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - F9 Cys336Arg C336R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - F9 Cys350Ser C350S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - F9 Gln11Stop Q11X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - F9 Gln50Pro Q50P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - F9 Gln173Stop Q173X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F9 Gln191Leu Q191L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F9 Gln191Stop Q191X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F9 Glu7Asp E7D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - F9 Glu27Lys E27K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 0 - 4 N 10 - - F9 Glu27Val E27V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.125 Y Y 5 Y 4 N 10 - - F9 Glu33Asp E33D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - F9 Glu245Val E245V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - F9 Gly60Ser G60S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - F9 Gly114Ala G114A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - F9 Gly309Val G309V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - F9 Gly311Arg G311R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F9 Gly311Glu G311E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F9 Gly363Val G363V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N - - F9 Gly367Arg G367R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F9 Gly396Arg G396R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - F9 His257Tyr H257Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - F9 Ile344Thr I344T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - F9 Ile397Thr I397T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - F9 Lys411Stop K411X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F9 Met348Val M348V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F9 Phe378Leu F378L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - F9 Pro55Ala P55A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - F9 Pro287Leu P287L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - F9 Pro368Thr P368T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - F9 Ser360Leu S360L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - F9 Ser365Gly S365G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y Y 2 - 4 N 2 - - F9 Ser365Ile S365I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.341 Y Y 5 Y 5 N 1 - - F9 Thr148Ala T148A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - F9 Thr296Met T296M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - F9 Trp194Stop W194X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - F9 Trp215Stop W215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - F9 Trp310Stop W310X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - F9 Trp407Arg W407R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - F9 Val181Phe V181F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.226 Y Y 3 - 5 N - - F9 Val182Leu V182L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - F9 Val182Phe V182F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - F9 Val227Val V227V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -8 - 5 N - - F9 Val307Ala V307A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - F9 Val328Phe V328F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - F9 Val373Glu V373E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - FA2H Asp35Tyr D35Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - FABP2 Ala54Thr A54T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - FAH Ala134Asp A134D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 5 Y 6 N 10 - - FAH Arg381Gly R381G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 1 - - FAH Asn16Ile N16I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - FAH Gln279Arg Q279R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.956 Y Y 0 - 6 N 10 - - FAH Glu337Ser E337S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - FAH Glu357Stop E357X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FAH Glu364Stop E364X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FAH Trp262Stop W262X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FAM126A Leu53Pro L53P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y Y 7 Y 6 N 2 - - FAM134B Gln145Stop Q145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM134B Ser309Stop S309X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM20C Arg535Trp R535W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - - - - - - - - Y - - - - - 7 Y 3 N - - FAM20C Gly365Arg G365R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FAM20C Gly365Glu G365E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FAM20C Leu374Arg L374R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FAM83H Arg325Stop R325X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Gln398Stop Q398X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Gln470Stop Q470X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Gln677Stop Q677X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Glu415Stop E415X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Glu694Stop E694X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Ser287Stop S287X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Trp460Stop W460X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FAM83H Tyr297Stop Y297X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FANCA Trp171Stop W171X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - FANCC Arg185Stop R185X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FANCC Arg548Stop R548X pathogenic Insufficiently evaluated pathogenic recessive Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - Fanconi Anemia FANCC Gln13Stop Q13X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FANCC Leu496Arg L496R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - FANCC Leu554Pro L554P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - FANCD2 Arg302Trp R302W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - FANCD2 Arg1236His R1236H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.709 Y Y 1 - 5 N 7 - - FANCD2 Gln320Stop Q320X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - FANCE Arg141Stop R141X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - FANCE Gln119Stop Q119X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - FANCF Gln6Stop Q6X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - FANCF Tyr109Stop Y109X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - FANCG Gln356Stop Q356X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - FANCG Glu105Stop E105X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FANCI Arg1285Gln R1285Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - FANCI Arg1285Stop R1285X pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 1 3 Y - - 0 Y 0 Y 5 - 1 - Y Y - - - Y Y 10 Y 6 N 2 0 Highly disruptive, reported to cause Fanconi Anemia complementation group I in a recessive manner (as do other disruptive variants in this gene). Patients with this severe disease develop various cancers and often do not reach adulthood. FANCM Ser724Stop S724X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - FASTKD2 Arg416Stop R416X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - FBLN5 Ala363Thr A363T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - FBLN5 Arg71Gln R71Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 0 - 6 N 5 - - FBLN5 Arg351Trp R351W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 3 - - FBLN5 Gly412Glu G412E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 9 - - FBLN5 Ile169Thr I169T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 3 - 6 N 3 - - FBLN5 Pro87Ser P87S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.016 Y Y 3 - 4 N 5 - - FBLN5 Ser227Pro S227P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 10 - - FBLN5 Val60Leu V60L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.62 Y Y 0 - 5 N 4 - - FBN1 Arg122Cys R122C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - FBN1 Arg240Cys R240C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 9 - - FBN1 Arg485Cys R485C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - FBN1 Arg529Stop R529X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - FBN1 Arg1137Pro R1137P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 9 - - FBN1 Arg1170His R1170H pathogenic High clinical importance, Uncertain pathogenic dominant Array 21 10758 0.00195204 0 0 0 0 0 0 - 0 - ! Y - - 4 - 4 - Y Y - - - Y Y 1 - 5 N 8 2 0 Reported to cause a "subdiagnostic variant" of Marfan syndrome as recorded by OMIM in ClinVar. This comes from Montgomery et al 1998 (PMID: 9837823) who report studying this in a single affected family. However, there aren't later publications confirming this variant as causal, at it is quite common. 1 in 500 are expected to carry this, while the Marfan syndrome affects only 1 in 5,000. FBN1 Arg2726Trp R2726W pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - FBN1 Arg2776Stop R2776X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - FBN1 Asn548Ile N548I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - FBN1 Asn1131Tyr N1131Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - FBN1 Asn2144Ser N2144S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - FBN1 Asp723Ala D723A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - FBN1 Cys1032Tyr C1032Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - FBN1 Cys1074Arg C1074R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - FBN1 Cys1086Tyr C1086Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - FBN1 Cys1117Tyr C1117Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - FBN1 Cys1129Tyr C1129Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - FBN1 Cys1221Tyr C1221Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - FBN1 Cys1223Tyr C1223Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - FBN1 Cys1242Tyr C1242Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - FBN1 Cys1249Ser C1249S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - FBN1 Cys1265Arg C1265R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - FBN1 Cys1663Arg C1663R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - FBN1 Cys2221Ser C2221S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - FBN1 Cys2307Ser C2307S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - FBN1 Glu1073Lys E1073K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - FBN1 Glu2447Lys E2447K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - FBN1 Gly985Glu G985E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - FBN1 Gly1013Arg G1013R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - FBN1 Gly1127Ser G1127S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - FBN1 Lys1043Arg K1043R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 3 - - FBN1 Tyr754Cys Y754C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - FBN2 Asp1114His D1114H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - FBN2 Cys1141Phe C1141F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 8 - - FBN2 Cys1252Trp C1252W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - FBN2 Cys1252Tyr C1252Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - FBN2 Glu390Lys E390K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - FBN2 Val964Ile V964I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 2 - - FBP1 Ala177Asp A177D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - FBP1 Glu30Stop E30X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - FBP1 Gly164Ser G164S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - FBP1 Phe194Ser F194S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 1 - - FBP1 Pro284Arg P284R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 1 - - FBXO7 Arg378Gly R378G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - FBXO7 Arg498Stop R498X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FBXO7 Thr22Met T22M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - FCGR1A Arg92Stop R92X pathogenic Insufficiently evaluated pathogenic unknown Array 34 8970 0.00379041 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FCGR2A Arg131His R131H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - FCGR2B Ile232Thr I232T pathogenic Low clinical importance, Likely pathogenic other Array rs1050501 1017 7666 0.132664 3 0 4 2 2 1 Y - - 4 Y 0 Y 4 Y 4 Y - Y - - 0.003 - - 3 - 2 N 0 1 A study in an Asian population associates this variant with increased susceptibility to anti-glomerular basement membrane antibody disease (anti-GBM), an autoimmune disease that causes bleeding, lung, and kidney disease. Even for carriers of this variation, anti-GBM is quite rare -- this variant only increases absolute risk for the disease by 0.1-0.2%. A much weaker finding seems to correlate homozygosity for the variant with increased risk for systemic lupus erythematosus (SLE); if true, the amount of increased risk due to the variant is unclear. FCGR3A Leu48His L48H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N 1 - - FECH Gly55Cys G55C pathogenic Insufficiently evaluated pathogenic unknown Array rs3848519 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - FECH Met267Ile M267I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 5 - - FECH Phe417Ser F417S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - FECH Val363Gly V363G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - FERMT1 Arg271Stop R271X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - FERMT1 Arg288Stop R288X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - FERMT1 Gln263Stop Q263X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - FERMT3 Arg509Stop R509X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FERMT3 Arg513Stop R513X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FERMT3 Arg573Stop R573X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FERMT3 Trp16Stop W16X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FERMT3 Trp229Stop W229X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FGA Arg16Cys R16C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - FGA Arg16His R16H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 8 - - FGA Arg19Asn R19N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - FGA Arg19Gly R19G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 5 - - FGA Arg19Ser R19S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - FGA Arg141Ser R141S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - FGA Arg554Cys R554C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - FGA Arg554Leu R554L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - FGA Asp7Asn D7N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - FGA Gln328Stop Q328X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - FGA Glu526Val E526V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - FGA Gly12Val G12V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - FGA Lys461Stop K461X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - FGA Pro18Leu P18L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - FGA Ser434Asn S434N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - FGA Thr312Ala T312A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 6 - - FGA Val20Asp V20D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - FGB Ala68Thr A68T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 8 - - FGB Ala335Thr A335T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - FGB Arg14Cys R14C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - FGB Arg17Stop R17X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - FGB Arg44Cys R44C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - FGB Arg166Cys R166C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - FGB Arg448Lys R448K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -3 - 4 N 9 - - FGB Gly15Cys G15C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - FGB Gly400Asp G400D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 8 - - FGB Leu172Gln L172Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 2 - - FGB Leu353Arg L353R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - FGD1 Arg408Gln R408Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - FGD1 Arg433Leu R433L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - FGD1 Arg522His R522H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 2 - - FGD1 Arg610Gln R610Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 3 - - FGD1 Met466Val M466V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 6 - - FGD1 Pro312Leu P312L pathogenic High clinical importance, Uncertain pathogenic recessive Array 4 8753 0.000456986 0 0 0 1 1 0 Y - - 0 Y 1 Y 4 Y 1 Y Y Y - - - Y - 7 Y 4 N 10 2 0 Extremely rare variant, reported to cause X-linked mental retardation. Only one case observed -- not enough information to establish statistical significance (it is also possible this was an unusual coincidental finding). Other mutations in this gene cause Aarskog-Scott syndrome, however the family reported did not have features of this syndrome. FGD4 Arg224Stop R224X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - FGD4 Arg275Stop R275X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FGD4 Gly586Stop G586X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - FGD4 Met298Thr M298T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 3 - - FGF10 Arg80Ser R80S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 9 - - FGF10 Arg193Stop R193X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - FGF10 Cys106Phe C106F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 6 - - FGF10 Gly138Glu G138E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 9 - - FGF10 Ile156Arg I156R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 7 - - FGF10 Lys137Stop K137X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - FGF14 Phe145Ser F145S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - FGF23 Arg176Gln R176Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - FGF23 Arg179Trp R179W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - FGF23 Met96Thr M96T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - FGF23 Ser71Gly S71G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.929 Y - 2 - 5 N 10 - - FGF23 Ser129Phe S129F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - FGF3 Arg104Stop R104X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - FGF3 Gly66Cys G66C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N 3 - - FGF3 Leu6Pro L6P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - FGF3 Ser156Pro S156P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 - - 3 - 4 N 10 - - FGF8 Arg127Gly R127G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 6 Y 4 N 5 - - FGF8 His14Asn H14N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 - Y 0 - 5 N 4 - - FGF8 Lys100Glu K100E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 0 - 4 N 5 - - FGF8 Phe40Leu F40L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.009 - Y 0 - 3 N 5 - - FGF8 Pro26Leu P26L pathogenic Insufficiently evaluated pathogenic unknown Array 4 9052 0.000441891 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.097 - Y 7 Y 3 N 6 - - FGF8 Thr229Met T229M pathogenic Insufficiently evaluated pathogenic unknown Array 2 10742 0.000186185 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 2 - 4 N 6 - - FGF9 Ser99Asn S99N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.552 - - 0 - 3 N - - FGFR1 Ala167Ser A167S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y -1 - 6 N 5 - - FGFR1 Arg250Gln R250Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.754 Y Y 0 - 5 N 10 - - FGFR1 Arg470Leu R470L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.465 Y Y 6 Y 5 N 8 - - FGFR1 Arg609Stop R609X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FGFR1 Arg622Stop R622X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FGFR1 Asn330Ile N330I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 7 - - FGFR1 Asp768Tyr D768Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.922 Y Y 7 Y 6 N 5 - - FGFR1 Cys379Arg C379R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - FGFR1 Cys381Arg C381R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 7 - - FGFR1 Gln680Stop Q680X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FGFR1 Gln764His Q764H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y Y -1 - 6 N 3 - - FGFR1 Gly48Ser G48S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 2 - 6 N 10 - - FGFR1 Gly237Ser G237S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 10 - - FGFR1 Ile300Thr I300T pathogenic Insufficiently evaluated pathogenic unknown Array 6 10610 0.000565504 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.011 Y Y 3 - 4 N 6 - - FGFR1 Leu342Ser L342S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.292 Y Y 6 Y 5 N 9 - - FGFR1 Pro252Arg P252R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - FGFR1 Pro366Leu P366L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y Y 7 Y 6 N 10 - - FGFR1 Pro722Ser P722S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - FGFR1 Trp666Arg W666R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - FGFR1 Tyr372Cys Y372C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - FGFR1 Val607Met V607M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 5 - - FGFR2 Ala315Ser A315S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - FGFR2 Ala344Ala A344A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -8 - 5 N 10 - - FGFR2 Ala344Gly A344G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.488 Y Y 1 - 5 N 10 - - FGFR2 Ala628Thr A628T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - FGFR2 Ala648Thr A648T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.65 Y Y 1 - 5 N 4 - - FGFR2 Asp321Ala D321A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 5 Y 4 N 10 - - FGFR2 Cys342Arg C342R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.604 Y Y 8 Y 5 N 10 - - FGFR2 Cys342Ser C342S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 3 - 6 N 10 - - FGFR2 Cys342Trp C342W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 7 Y 6 N 10 - - FGFR2 Cys342Tyr C342Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 6 Y 6 N 10 - - FGFR2 Gln289Pro Q289P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 4 Y 6 N 10 - - FGFR2 Glu565Ala E565A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.182 Y Y 3 - 4 N 10 - - FGFR2 Lys292Glu K292E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.469 Y Y 0 - 5 N - - FGFR2 Lys526Glu K526E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.872 Y Y 0 - 6 N 10 - - FGFR2 Pro253Arg P253R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.071 Y Y 5 Y 4 N 10 - - FGFR2 Ser252Phe S252F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 5 Y 4 N 10 - - FGFR2 Ser252Trp S252W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.761 Y Y 7 Y 5 N 10 - - FGFR2 Ser267Pro S267P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.062 Y Y 3 - 4 N 10 - - FGFR2 Ser347Cys S347C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.263 Y Y 3 - 5 N 10 - - FGFR2 Ser351Cys S351C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.015 Y Y 3 - 4 N 10 - - FGFR2 Ser354Cys S354C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y Y 3 - 4 N 10 - - FGFR2 Ser372Cys S372C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - FGFR2 Thr341Pro T341P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.272 Y Y 4 Y 5 N 10 - - FGFR2 Trp290Arg W290R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 6 - - FGFR2 Trp290Cys W290C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - FGFR2 Trp290Gly W290G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - FGFR2 Tyr328Cys Y328C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y Y 6 Y 4 N 7 - - FGFR2 Tyr340His Y340H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y -1 - 6 N 10 - - FGFR2 Tyr375Cys Y375C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.797 Y Y 6 Y 5 N 10 - - FGFR3 Ala391Glu A391E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 3 - 4 N 10 - - FGFR3 Arg248Cys R248C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - FGFR3 Arg621His R621H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - FGFR3 Asn540Ser N540S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - FGFR3 Asn540Thr N540T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - FGFR3 Asp513Asn D513N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y Y -1 - 4 N 4 - - FGFR3 Glu322Lys E322K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y Y 0 - 4 N 6 - - FGFR3 Gly370Cys G370C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - FGFR3 Gly375Cys G375C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.012 Y Y 7 Y 4 N 10 - - FGFR3 Ile538Val I538V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y -4 - 6 N 10 - - FGFR3 Lys650Gln K650Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -2 - 6 N 10 - - FGFR3 Lys650Glu K650E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - FGFR3 Lys650Met K650M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - FGFR3 Lys652Gln K652Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - FGFR3 Pro250Arg P250R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.828 Y Y 5 Y 5 N 10 - - FGFR3 Ser84Leu S84L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.423 Y Y 6 Y 5 N 5 - - FGFR3 Ser249Cys S249C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.522 Y Y 3 - 5 N 10 - - FGFR3 Ser279Cys S279C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 3 - 6 N 7 - - FGFR3 Ser371Cys S371C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.071 Y Y 3 - 4 N 10 - - FGFR3 Tyr278Cys Y278C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 6 Y 6 N 8 - - FGFR3 Tyr373Cys Y373C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.519 Y Y 6 Y 5 N 10 - - FGG Arg275Cys R275C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - FGG Arg275His R275H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - FGG Arg318Gly R318G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - FGG Arg375Gly R375G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - FGG Asn308Ile N308I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - FGG Asn308Lys N308K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 6 - - FGG Asp330Tyr D330Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - FGG Asp330Val D330V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - FGG Asp364His D364H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - FGG Gln329Arg Q329R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - FGG Gly165Arg G165R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 9 - - FGG Gly292Val G292V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - FGG Gly309Asp G309D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.765 Y - 4 Y 4 N 2 - - FGG Met310Thr M310T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - FH Ala265Thr A265T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - FH Arg58Pro R58P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - FH Arg58Stop R58X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FH Arg190His R190H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - FH Arg190Leu R190L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - FH Arg300Stop R300X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FH Asn64Thr N64T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - FH Glu319Gln E319Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - FHL1 Cys104Arg C104R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - FHL1 Cys132Phe C132F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - FHL1 Cys150Tyr C150Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - FHL1 Cys153Arg C153R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - FHL1 Cys153Tyr C153Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - FHL1 Cys209Arg C209R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - FHL1 Cys224Trp C224W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - FHL1 His123Tyr H123Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 5 - - FHL1 Trp122Ser W122S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - FIG4 Arg183Stop R183X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 7 - - FIG4 Asp53Tyr D53Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 - Y 7 Y 5 N 3 - - FIG4 Ile41Thr I41T pathogenic Insufficiently evaluated pathogenic unknown Array 16 10756 0.00148754 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 - Y 3 - 5 N 10 - - FKRP Ala455Asp A455D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.935 Y - 5 Y 5 N 10 - - FKRP Arg54Trp R54W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 5 - - FKRP Arg134Trp R134W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 7 Y 5 N 3 - - FKRP Asn463Asp N463D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 5 - - FKRP Cys318Tyr C318Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - FKRP Leu276Ile L276I pathogenic Insufficiently evaluated pathogenic recessive Array 5 7496 0.000667022 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.178 Y - -2 - 3 N 10 - - Limb Girdle Muscular Dystrophy FKRP Pro316Thr P316T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 2 - - FKRP Pro448Leu P448L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - FKRP Ser221Arg S221R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y - 3 - 5 N 10 - - FKRP Ser385Stop S385X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - FKRP Trp255Stop W255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - FKRP Tyr307Asn Y307N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 5 - - FKRP Tyr309Cys Y309C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 2 - - FKRP Val79Met V79M pathogenic High clinical importance, Uncertain pathogenic recessive Array 51 10726 0.0047548 1 0 1 1 1 0 Y - - 3 Y 0 Y 4 - 1 - Y Y - - 0.015 Y - 0 - 3 N 3 2 0 This rare, recessive variant is reported to cause limb-girdle muscular dystrophy. FKRP Val300Ala V300A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 2 - 5 N 3 - - FKRP Val405Leu V405L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.939 Y - 0 - 5 N 9 - - FKTN Ala114Thr A114T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 8 - - FKTN Ala170Glu A170E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.051 Y Y 3 - 4 N 2 - - FKTN Arg47Stop R47X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - FKTN Arg179Thr R179T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 3 - - FKTN Arg307Gln R307Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 2 - - FKTN Gln116Stop Q116X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - FKTN Gln358Pro Q358P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.144 Y Y 4 Y 4 N 4 - - FKTN Phe176Ser F176S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.071 Y Y 5 Y 4 N 7 - - FKTN Tyr371Cys Y371C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 4 - - FLCN Ala445Thr A445T pathogenic Insufficiently evaluated pathogenic unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - FLCN Ser79Trp S79W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.804 Y Y 7 Y 5 N 3 - - FLCN Tyr463Stop Y463X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - FLG Arg501Stop R501X pathogenic Moderate clinical importance, pathogenic recessive Array 144 10758 0.0133854 0 0 0 4 3 3 Y - - 5 Y - - 3 - 1 - Y Y - - - Y Y 10 Y 6 N 10 1 2 Causes ichthyosis vulgaris in a recessive manner (sometimes homozygously, and sometimes compound heterozygously combined with another deleterious variant in this gene). Heterozygous carriers may be very prone to atopic dermatitis (a type of eczema) with moderately high penetrance (30-50% of carriers having symptoms according to Palmer et al.). FLG Ser2554Stop S2554X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FLNA Ala39Gly A39G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y Y 1 - 4 N 9 - - FLNA Ala128Val A128V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.428 Y Y 2 - 5 N 9 - - FLNA Ala1188Thr A1188T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N 4 - - FLNA Arg196Trp R196W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 4 - - FLNA Asp203Tyr D203Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - FLNA Asp1159Ala D1159A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 3 - - FLNA Cys210Phe C210F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 4 - - FLNA Gln182Stop Q182X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - FLNA Glu82Val E82V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 5 Y 6 N 3 - - FLNA Glu254Lys E254K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 0 - 6 N 10 - - FLNA Gly1728Cys G1728C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 3 - - FLNA Leu656Phe L656F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.131 Y Y 0 - 4 N 4 - - FLNA Pro207Leu P207L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - FLNA Pro1291Leu P1291L pathogenic Insufficiently evaluated pathogenic unknown Array 1 8272 0.000120889 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.656 Y Y 7 Y 5 N 4 - - FLNA Ser1186Leu S1186L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.816 Y Y 6 Y 5 N 5 - - FLNA Ser1199Leu S1199L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 5 - - FLNB Ala173Val A173V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 2 - - FLNB Arg818Stop R818X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - FLNB Arg1607Stop R1607X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - FLNB Arg2004Stop R2004X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - FLNB Glu227Lys E227K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 2 - - FLNB Gly751Arg G751R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 6 Y 6 N 2 - - FLNB Gly1586Arg G1586R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 6 Y 6 N 2 - - FLNB Gly1691Ser G1691S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 2 - 6 N 5 - - FLNB Gly1850Stop G1850X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - FLNB Met202Val M202V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 8 - - FLNB Phe161Cys F161C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 2 - - FLNB Ser235Pro S235P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.423 Y Y 3 - 5 N 10 - - FLNB Ser2137Stop S2137X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - FLNBA Leu171Arg L171R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FLNC Trp2710Stop W2710X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FLT3 Asp835Asn D835N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.991 - - -1 - 4 N - - FLT3 Asp835Glu D835E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.981 - - -2 - 4 N - - FLT3 Asp835His D835H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 3 - 4 N - - FLT3 Asp835Tyr D835Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - FLT3 Asp835Val D835V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 8 Y 4 N - - FLT4 Ala855Thr A855T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N 1 - - FLT4 Arg1041Pro R1041P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 9 - - FLT4 Glu1106Lys E1106K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 9 - - FLT4 Gly857Arg G857R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - FLT4 His1035Arg H1035R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 7 - - FLT4 Ile1086Thr I1086T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.945 Y Y 3 - 6 N 1 - - FLT4 Leu1044Pro L1044P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 7 - - FLT4 Pro1114Leu P1114L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - FLT4 Pro1126Leu P1126L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - FLT4 Val878Met V878M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y Y 0 - 6 N 1 - - FMO3 Ala52Thr A52T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 1 - 4 N 10 - - FMO3 Arg387Leu R387L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - FMO3 Arg492Trp R492W pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 5 10758 0.00046477 0 0 0 1 0 2 Y - - 0 Y - - 3 - 2 - Y Y - - 1.0 Y Y 7 Y 6 N 10 1 0 Reported by Akerman et al. 1999 to cause Trimethylaminuria in a recessive manner. The authors report seeing it once, compound heterozygous in a patient. FMO3 Asn61Ser N61S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - FMO3 Glu32Lys E32K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.938 Y Y 0 - 6 N 10 - - FMO3 Glu305Stop E305X pathogenic Insufficiently evaluated pathogenic unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FMO3 Glu314Stop E314X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FMO3 Gly148Stop G148X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - FMO3 Met66Ile M66I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y -1 - 6 N 10 - - FMO3 Met434Ile M434I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.672 Y Y -1 - 5 N 8 - - FMO3 Pro153Leu P153L pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 24 10758 0.0022309 0 0 0 0 0 2 Y - - 0 Y - - 3 - 3 - Y Y - - 0.991 Y Y 7 Y 6 N 10 1 0 Reported to cause trimethylaminuria, causing affected individuals to have a fishy body odor. Recorded by OMIM and GeneReviews, this comes from Dolphin et al 1997 (PMID: 9398858). According to OMIM, these authors found the variant in three different affected families. FMR1 Ile304Asn I304N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - FN1 Leu1974Arg L1974R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FN1 Trp1925Arg W1925R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - FN1 Tyr983Cys Y983C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FOLR1 Cys175Stop C175X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FOLR1 Gln118Stop Q118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FOXC1 Gln23Stop Q23X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - FOXC1 Gln120Stop Q120X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - FOXC1 Ile87Met I87M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -1 - 5 N 10 - - FOXC1 Ile126Met I126M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -1 - 5 N 10 - - FOXC1 Leu130Phe L130F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 0 - 5 N 10 - - FOXC1 Phe112Ser F112S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 10 - - FOXC1 Ser82Thr S82T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - -2 - 5 N 10 - - FOXC1 Ser131Leu S131L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - FOXC2 Arg121His R121H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - FOXC2 Ser125Leu S125L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - FOXC2 Tyr99Stop Y99X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - FOXE1 Ala65Val A65V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - FOXE1 Arg102Cys R102C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - FOXE1 Ser57Asn S57N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - FOXE3 Cys240Stop C240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - FOXF1 Tyr50Stop Y50X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FOXG1 Trp255Stop W255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - FOXI1 Arg267Gln R267Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.022 - - 0 - 2 N - - FOXI1 Gly258Glu G258E pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - FOXL2 Gln53Stop Q53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - FOXL2 Gln98Stop Q98X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - FOXL2 Gln196Stop Q196X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - FOXL2 Gln219Stop Q219X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - FOXL2 Gly187Asp G187D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 4 Y 6 N 7 - - FOXL2 Ile84Ser I84S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 9 - - FOXL2 Tyr258Asn Y258N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 5 Y 6 N 10 - - FOXL2 Tyr274Stop Y274X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - FOXN1 Arg255Stop R255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - FOXP2 Arg328Stop R328X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - FOXP2 Arg553His R553H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 10 - - FOXP3 Ala384Thr A384T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.028 Y Y 1 - 4 N 10 - - FOXP3 Arg397Trp R397W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 10 - - FOXP3 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y -1 - 6 N 3 - - FOXP3 Phe324Lys F324K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - FOXP3 Phe371Cys F371C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 7 - - FOXP3 Phe373Ala F373A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 9 - - FOXP3 Pro367Leu P367L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - FRAS1 Gln1266Stop Q1266X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - FRAS1 Gln2863Stop Q2863X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - FRAS1 Gln3000Stop Q3000X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - FRAS1 Ser1423Stop S1423X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - FREM1 Arg649Trp R649W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - FREM1 Gly1440Ser G1440S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.992 - - 2 - 4 N - - FREM2 Glu1972Lys E1972K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 3 - - FREM2 Glu1974Lys E1974K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.715 Y - 0 - 4 N 1 - - FRMD7 Arg229Gly R229G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 6 Y 5 N 10 - - FRMD7 Arg335Stop R335X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - FRMD7 Gln201Stop Q201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - FRMD7 Gly24Arg G24R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 6 Y 5 N 1 - - FRMD7 Leu142Arg L142R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 6 Y 5 N 7 - - FRMD7 Val84Val V84V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y -8 - 4 N 2 - - FSHB Cys51Gly C51G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - FSHB Tyr76Stop Y76X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - FSHR Ala189Val A189V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - FSHR Ala418Thr A418T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - FSHR Arg573Cys R573C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - FSHR Asn680Ser N680S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 9 - - FSHR Asp567Asn D567N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - FSHR Ile160Thr I160T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 6 - - FSHR Ile545Thr I545T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 5 - - FSHR Pro519Thr P519T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 6 - - FSHR Ser128Tyr S128Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 4 - - FSHR Thr307Ala T307A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 7 - - FSHR Thr449Ala T449A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - FSHR Thr449Ile T449I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - FTCD Arg135Cys R135C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 8 - - FTCD Arg299Pro R299P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10730 9.3196e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 6 - - FTL Ala96Thr A96T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y Y 1 - 4 N 10 - - FTO Arg316Gln R316Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - FUCA1 Gln77Stop Q77X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - FUCA1 Gln281Arg Q281R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - FUCA1 Gln351Stop Q351X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - FUCA1 Glu375Stop E375X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - FUCA1 Leu405Arg L405R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - FUCA1 Trp382Stop W382X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - FUCA1 Tyr211Stop Y211X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - FUS Arg518Lys R518K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.535 Y Y -3 - 5 N 3 - - FUS Arg521Cys R521C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 8 Y 6 N 10 - - FUS Arg521Gly R521G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.956 Y Y 6 Y 6 N 6 - - FUS Arg521His R521H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.941 Y Y 1 - 6 N 10 - - FUS His517Gln H517Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y -1 - 6 N 6 - - FUT1 Gln276Stop Q276X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FUT1 Leu164His L164H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.668 - - 6 Y 3 N - - FUT1 Leu242Arg L242R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.963 - - 6 Y 4 N - - FUT1 Tyr316Stop Y316X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FUT2 Ile129Phe I129F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - FUT2 Trp143Stop W143X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - FUT6 Glu247Lys E247K pathogenic Insufficiently evaluated pathogenic unknown Array rs17855739 1372 10754 0.12758 12 0 14 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 0 - 3 N - - FXN Gly130Val G130V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - FXN Ile154Phe I154F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.081 Y Y 2 - 4 N 10 - - FXN Leu106Stop L106X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - FXN Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - FXN Trp173Gly W173G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - FXYD2 Gly41Arg G41R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - FY Gly44Asp G44D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - FZD4 Arg417Gln R417Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - FZD4 Ile256Val I256V pathogenic Insufficiently evaluated pathogenic unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.472 Y Y -4 - 5 N 1 - - FZD4 Met342Val M342V pathogenic Insufficiently evaluated pathogenic unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 0 - 6 N 5 - - FZD4 Trp335Cys W335C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 3 - - G6PC Ala124Thr A124T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.786 Y Y 1 - 5 N 3 - - G6PC Arg83Cys R83C pathogenic Insufficiently evaluated pathogenic recessive Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - Reported to cause Glycogen Storage Disease Type 1A in a recessive manner G6PC Arg295Cys R295C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 5 - - G6PC Asp38Val D38V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 7 - - G6PC Gln347Stop Q347X pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - G6PC Glu110Lys E110K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 5 - - G6PC Gly184Glu G184E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 5 - - G6PC Gly188Arg G188R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - G6PC Trp77Arg W77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - G6PC Val166Gly V166G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 8 - - G6PC3 Arg253His R253H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - G6PC3 Gly262Arg G262R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 6 Y 4 N - - G6PC3 Leu185Pro L185P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.467 - - 7 Y 3 N - - G6PC3 Tyr47Stop Y47X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - G6PD Ala44Gly A44G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - G6PD Ala335Thr A335T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - G6PD Ala361Val A361V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - G6PD Arg198Cys R198C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - G6PD Arg198His R198H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - G6PD Arg198Pro R198P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 1 - - G6PD Arg227Gln R227Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - G6PD Arg227Leu R227L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - G6PD Arg285His R285H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - G6PD Arg387Cys R387C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - G6PD Arg387His R387H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 3 - - G6PD Arg393His R393H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - G6PD Arg439Pro R439P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - G6PD Arg454His R454H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 4 - - G6PD Arg459Leu R459L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - G6PD Arg459Pro R459P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - G6PD Arg463His R463H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - G6PD Asn165Asp N165D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 2 - - G6PD Asn363Lys N363K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 3 - - G6PD Asp58Asn D58N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - G6PD Asp181Val D181V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - G6PD Asp282His D282H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 5 - - G6PD Cys269Tyr C269Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 6 - - G6PD Cys385Arg C385R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - G6PD Glu156Lys E156K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - G6PD Glu317Lys E317K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - G6PD Glu398Lys E398K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - G6PD Gly131Val G131V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - G6PD Gly163Ser G163S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - G6PD Gly410Asp G410D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - G6PD Gly410Cys G410C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - G6PD Gly447Arg G447R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - G6PD His32Arg H32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 3 - - G6PD His70Tyr H70Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - G6PD Ile48Thr I48T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - G6PD Leu323Pro L323P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - G6PD Leu342Phe L342F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - G6PD Lys386Glu K386E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 4 - - G6PD Phe173Leu F173L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - G6PD Phe216Leu F216L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - G6PD Pro353Ser P353S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - G6PD Pro467Arg P467R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - G6PD Pro481Arg P481R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - G6PD Ser188Phe S188F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - G6PD Tyr322His Y322H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - G6PD Val68Met V68M pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 5 2 - - 1 Y 5 Y - - 2 Y 3 Y Y Y - - - Y - 0 - 4 N 10 - - This amino acid variant is almost always found in combination with N126D in Africans and the combination of these variants is associated with G6PD deficiency. The combination is also called genotype "A-" and is associated with X-linked G6PD enzyme deficiency. This is pathogenic but often not symptomatic except in the presence of stressors (which includes broad beans, this is related to "favism"). The variant is also associated with resistance to malaria, which is believed to have led to positive selection for it in individuals of African descent. G6PD Val213Leu V213L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - G6PD Val291Met V291M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - G6PD Val394Leu V394L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 9 - - GAA Ala237Val A237V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - GAA Arg725Trp R725W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - GAA Arg854Stop R854X pathogenic Insufficiently evaluated pathogenic unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - GAA Asp91Asn D91N benign Low clinical importance, Uncertain benign recessive Array rs1800299 255 10758 0.0237033 2 0 2 1 1 1 Y - - 0 - 0 - - - - - Y Y - - - Y Y -1 - 5 N 10 0 0 This is a rare but non-pathogenic coding polymorphism in GAA that creates variant allozyme, known as GAA*2. GAA Asp645Glu D645E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - GAA Glu521Lys E521K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - GAA Gly293Arg G293R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - GAA Gly643Arg G643R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - GAA Leu299Arg L299R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - GAA Met318Thr M318T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - GAA Pro545Leu P545L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - GAA Ser529Val S529V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - GABRA1 Ala322Asp A322D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 10 - - GABRB3 Arg192His R192H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - GABRB3 Gly32Arg G32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.011 - - 6 Y 2 N - - GABRB3 Pro11Ser P11S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GABRB3 Ser15Phe S15F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - GABRD Arg220His R220H benign Low clinical importance, Likely benign unknown Array rs41307846 174 10748 0.0161891 1 0 1 2 2 2 Y ! Y 4 Y - - - - - - Y Y - - 0.003 Y - 1 - 3 N 10 0 1 Probably benign, one report hypothesized this variant was associated with epilepsy, but a follow-up investigation failed to establish any statistically significant difference for this variant's incidence in control vs. affected populations. GABRD Glu177Ala E177A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.853 Y - 3 - 5 N 10 - - GABRG2 Arg43Gln R43Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - GABRG2 Arg139Gly R139G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 5 - - GABRG2 Gln351Stop Q351X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GABRG2 Lys289Met K289M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - GAD1 Ser12Cys S12C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.27 - - 3 - 3 N - - GALC Glu369Stop E369X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GALE Asn34Ser N34S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y - 0 - 5 N 9 - - GALE Asp103Gly D103G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.471 Y - 4 Y 4 N 10 - - GALE Gly90Glu G90E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 6 Y 5 N 10 - - GALE Gly319Glu G319E pathogenic Insufficiently evaluated pathogenic unknown Array rs28940885 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.013 Y - 6 Y 3 N 10 - - GALE Leu183Pro L183P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - GALE Leu313Met L313M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.143 Y - -3 - 3 N 10 - - GALE Lys257Arg K257R pathogenic Insufficiently evaluated pathogenic unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.295 Y - -3 - 4 N 10 - - GALE Val94Met V94M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.102 Y - 0 - 3 N 10 - - GALK1 Ala198Val A198V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.079 Y - 2 - 3 N 10 - - GALK1 Gln382Stop Q382X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - GALK1 Glu80Stop E80X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GALK1 Pro28Thr P28T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - GALK1 Val32Met V32M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.186 Y - 0 - 3 N 10 - - GALNS Ala138Val A138V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 4 - - GALNS Ala291Thr A291T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 1 - 5 N 6 - - GALNS Arg94Gly R94G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - GALNS Arg259Gln R259Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 0 - 5 N 9 - - GALNS Arg386Cys R386C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - GALNS Asn204Lys N204K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y - 1 - 5 N 10 - - GALNS Asn487Ser N487S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y - 0 - 5 N 10 - - GALNS Asp60Asn D60N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - -1 - 5 N 5 - - GALNS Gln473Stop Q473X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GALNS Gly301Cys G301C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 10 - - GALNS Ile113Phe I113F pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 2 - 5 N 10 - - GALNS Phe69Val F69V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y - 3 - 5 N 5 - - GALNS Ser162Phe S162F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y - 5 Y 5 N 10 - - GALNS Thr312Ser T312S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.314 Y - -2 - 4 N 10 - - GALNS Trp230Stop W230X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - GALNT3 Arg162Stop R162X pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GALNT3 Gln481Stop Q481X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GALNT3 Gln592Stop Q592X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GALNT3 Thr272Lys T272K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GALNT3 Thr359Lys T359K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GALNT3 Tyr322Stop Y322X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GALT Arg333Gly R333G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y Y 6 Y 6 N 10 - - GALT Arg333Trp R333W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GALT Asn314Asp N314D benign Low clinical importance, Uncertain benign undefined Array rs2070074 771 10758 0.0716676 4 0 5 3 3 1 Y 3 Y 1 Y - - - - - - Y Y - - - Y Y -1 - 4 Y 5 0 0 This variant has an allele frequency of ~8% and is ancestral to "Duarte" / "Duarte 2" and "Duarte 1"/"Los Angeles" galactosemia variants. This variant is evolutionarily ancestral, and in vitro studies fail to support an impact of this variant on enzyme activity. Carney et al. instead implicate a 4 base deletion on the 5' of the GALT gene as being causal and linked to this variant. Galactosemia is typically screened and detected in infants and causes early, severe but nonspecific symptoms (digestive problems, lethargy, failure to thrive). GALT Gln188Arg Q188R pathogenic High clinical importance, pathogenic recessive Array 18 10758 0.00167317 1 0 1 3 3 2 Y 1 Y 5 - - - 5 Y 4 Y Y Y - - 1.0 Y Y 0 - 6 N 10 2 2 This variant causes classic galactosemia in a recessive manner (when homozygous or combined with another disease-causing variant). This is a metabolic disorder where individuals are unable to metabolize the sugar galactose. Treatment consists of strict dietary avoidance of lactose and galactose. Without treatment children develop permanent and eventually fatal health problems, and even when treated some individuals still have neurological impairment. GALT Glu203Lys E203K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.548 Y Y 0 - 5 N 10 - - GALT His319Gln H319Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - GALT Leu62Met L62M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.191 Y Y -3 - 4 N 2 - - GALT Leu74Pro L74P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - GALT Lys285Asn K285N pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 10 - - GALT Met142Lys M142K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 9 - - GALT Phe171Ser F171S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - GALT Phe194Leu F194L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - GALT Pro183Thr P183T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y Y 4 Y 6 N 10 - - GALT Ser135Leu S135L pathogenic Insufficiently evaluated pathogenic unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - GALT Val44Met V44M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 0 - 6 N 7 - - GAMT Cys169Tyr C169Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - GAMT Met50Leu M50L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 1 - - GAMT Trp20Ser W20S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 6 - - GAN Arg15Ser R15S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 3 - 4 N 10 - - GAN Arg138His R138H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 1 - 6 N 6 - - GAN Arg201Stop R201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - GAN Arg477Stop R477X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GAN Gln483Stop Q483X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - GAN Glu169Lys E169K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 4 - - GAN Glu486Lys E486K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.028 Y Y 0 - 4 N 5 - - GAN Ile423Thr I423T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 3 - 6 N 7 - - GARS Asp500Asn D500N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - GARS Glu71Gly E71G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GARS Gly240Arg G240R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GARS Gly526Arg G526R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GARS Leu129Pro L129P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - GARS Pro244Leu P244L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - GATA1 Arg216Gln R216Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - GATA1 Asp218Gly D218G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - GATA1 Asp218Tyr D218Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GATA1 Gly208Ser G208S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - GATA1 Val205Met V205M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.604 Y Y 0 - 5 N 10 - - GATA3 Arg277Stop R277X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - GATA3 Arg353Ser R353S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 6 - - GATA3 Arg367Stop R367X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GATA3 Trp275Arg W275R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - GATA4 Asp425Asn D425N pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 7 - - GATA4 Gln316Glu Q316E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N - - GATA4 Gly296Ser G296S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - GATA4 Ser52Phe S52F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - GATM Trp149Stop W149X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - GBA Ala309Val A309V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - GBA Arg119Gln R119Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - GBA Arg131Leu R131L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - GBA Arg257Glu R257E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - GBA Arg353Gly R353G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - GBA Arg359Stop R359X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - GBA Arg463Cys R463C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - GBA Arg496His R496H pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - Gaucher Disease GBA Asn188Ser N188S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GBA Asn370Ser N370S pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - Gaucher's Disease GBA Asp409His D409H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - GBA Asp409Val D409V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - GBA Cys342Gly C342G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - GBA Gly46Glu G46E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GBA Gly325Arg G325R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - GBA Gly377Ser G377S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - GBA Gly478Ser G478S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - GBA His311Arg H311R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - GBA Leu371Val L371V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - GBA Leu444Pro L444P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - GBA Lys79Asn K79N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - GBA Lys157Gln K157Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 6 - - GBA Phe213Ile F213I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - GBA Phe216Tyr F216Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 7 - - GBA Phe216Val F216V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - GBA Phe251Leu F251L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - GBA Pro122Ser P122S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - GBA Pro289Leu P289L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - GBA Pro401Leu P401L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - GBA Pro415Arg P415R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 8 - - GBA Ser364Thr S364T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 3 - - GBA Trp312Cys W312C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - GBA Tyr212His Y212H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - GBA Tyr323Ile Y323I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - GBA Val15Leu V15L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GBA Val394Leu V394L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - Gaucher Disease GBA Val398Phe V398F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - GBE1 Arg262Cys R262C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - GBE1 Arg515Cys R515C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 5 - - GBE1 Arg524Gln R524Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 5 - - GBE1 Arg524Stop R524X pathogenic Insufficiently evaluated pathogenic unknown Array 2 9924 0.000201531 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - GBE1 Gln236His Q236H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N - - GBE1 Glu592Stop E592X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - GBE1 His545Arg H545R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N - - GBE1 His628Arg H628R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N - - GBE1 Lys224Pro K224P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - GBE1 Phe257Leu F257L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 4 - - GBE1 Trp548Stop W548X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - GBE1 Tyr329Ser Y329S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 7 - - GC Asp416Glu D416E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - GC Thr420Lys T420K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GCDH Ala293Thr A293T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 1 - 5 N 10 - - GCDH Ala421Val A421V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.851 Y - 2 - 5 N 10 - - GCDH Arg227Pro R227P pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y - 5 Y 3 N 10 - - GCDH Arg402Trp R402W pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - GCDH Glu365Lys E365K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.166 Y - 0 - 3 N 8 - - GCDH Thr416Ile T416I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 3 - 5 N 7 - - GCDH Tyr295His Y295H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.936 Y - -1 - 5 N 6 - - GCDH Val400Met V400M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.657 Y - 0 - 4 N 10 - - GCGR Gly40Ser G40S pathogenic Insufficiently evaluated pathogenic unknown Array 31 3234 0.00958565 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - GCH1 Ala196Ser A196S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y -1 - 4 N 1 - - GCH1 Arg88Trp R88W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - GCH1 Arg184His R184H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 7 - - GCH1 Arg249Ser R249S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.146 Y Y 3 - 4 N 8 - - GCH1 Asp134Val D134V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.831 Y Y 8 Y 5 N 5 - - GCH1 Gln48Stop Q48X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - GCH1 Gly108Asp G108D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y Y 4 Y 6 N 5 - - GCH1 Gly201Glu G201E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 9 - - GCH1 His144Pro H144P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 5 Y 6 N 5 - - GCH1 Ile135Lys I135K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 5 - - GCH1 Lys224Arg K224R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y -3 - 4 N 10 - - GCH1 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.36 Y Y -1 - 5 N 10 - - GCH1 Met211Ile M211I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y -1 - 6 N 6 - - GCH1 Met221Thr M221T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.061 Y Y 2 - 4 N 5 - - GCH1 Pro199Ala P199A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y Y 2 - 6 N 9 - - GCK Ala378Thr A378T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.033 Y Y 1 - 4 N 1 - - GCK Ala456Val A456V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 2 - 6 N 10 - - GCK Arg186Stop R186X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - GCK Glu265Stop E265X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - GCK Glu279Stop E279X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GCK Gly261Arg G261R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 6 Y 6 N 10 - - GCK Gly299Arg G299R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - GCK Met210Lys M210K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - GCK Ser131Pro S131P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.962 Y Y 3 - 6 N 4 - - GCK Thr228Met T228M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 9 - - GCK Tyr214Cys Y214C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - GCK Val455Met V455M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.64 Y Y 0 - 5 N 10 - - GCLC His370Leu H370L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - GCM2 Arg47Leu R47L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 7 - - GCM2 Gly63Ser G63S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 2 - 5 N 9 - - GCNT2 Ala169Thr A169T pathogenic Insufficiently evaluated pathogenic unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - GCNT2 Arg228Gln R228Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - GCNT2 Arg383His R383H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - GCNT2 Gly348Glu G348E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - GCP Arg330Gln R330Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - GCP Asn94Lys N94K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 1 - - GCP Cys203Arg C203R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 8 - - GCS1 Arg486Thr R486T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - GCS1 Phe652Leu F652L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - GDAP1 Arg120Trp R120W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - GDAP1 Arg161His R161H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - GDAP1 Arg282Cys R282C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - GDAP1 Cys240Tyr C240Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - GDAP1 Gln163Stop Q163X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GDAP1 Gln218Glu Q218E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - GDAP1 Leu239Phe L239F pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 10758 0.000092954 0 0 0 0 0 2 Y - - - - 2 Y 3 - 3 - Y Y - - - Y Y 0 - 5 N 10 1 0 Reported to cause Charcot-Marie-Tooth syndrome type 2 in a recessive manner, as recorded by OMIM in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004420/). Kabzinska et al 2010 (PMID: 20232219) report seeing this mutation in six different affected families. GDAP1 Pro231Leu P231L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - GDAP1 Ser194Stop S194X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GDAP1 Thr157Pro T157P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - GDAP1 Trp31Stop W31X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - GDF1 Cys227Stop C227X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GDF1 Cys267Tyr C267Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - GDF1 Gly162Asp G162D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.957 - - 4 Y 4 N - - GDF5 Arg301Stop R301X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GDF5 Arg378Gln R378Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 1 - - GDF5 Arg438Leu R438L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - GDF5 Cys400Tyr C400Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 9 - - GDF5 Glu491Lys E491K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 0 - 5 N 5 - - GDF5 Leu373Arg L373R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.04 Y - 6 Y 3 N 6 - - GDF5 Leu441Pro L441P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - GDF5 Met173Val M173V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 2 - - GDF5 Pro436Thr P436T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 1 - - GDF5 Ser475Asn S475N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 5 - - GDF5 Tyr487Stop Y487X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - GDF6 Ala249Glu A249E pathogenic Insufficiently evaluated pathogenic unknown Array 14 5450 0.00256881 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y - 3 - 3 N 4 - - GDF6 Gln253Leu Q253L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.067 Y - 5 Y 3 N - - GDF6 Gly42Val G42V pathogenic Insufficiently evaluated pathogenic unknown Array 16 10750 0.00148837 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.025 Y - 8 Y 3 N - - GDF6 Leu289Pro L289P pathogenic Insufficiently evaluated pathogenic unknown Array 4 7898 0.000506457 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 7 Y 5 N 4 - - GDF6 Lys242Arg K242R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -3 - 4 N - - GDF6 Pro327His P327H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - GDI1 Arg70Stop R70X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - GDI1 Arg423Pro R423P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 3 - - GDI1 Leu92Pro L92P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y - 7 Y 4 N 10 - - GDNF Arg93Trp R93W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 - Y 7 Y 5 Y 5 - - GDNF Asp150Asn D150N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y -1 - 4 N 6 - - GDNF Ile211Met I211M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.476 - Y -1 - 4 N 7 - - GDNF Thr154Ser T154S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.812 - Y -2 - 4 N 7 - - GFAP Arg79Cys R79C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - GFAP Arg79His R79H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - GFAP Arg88Cys R88C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - GFAP Arg88Ser R88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 8 - - GFAP Arg239Cys R239C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - GFAP Arg239His R239H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - GFAP Arg276Leu R276L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - GFAP Arg416Trp R416W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 7 Y 6 N 10 - - GFAP Asn77Tyr N77Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 9 - - GFAP Asp78Glu D78E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y -2 - 6 N 10 - - GFAP Glu362Asp E362D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y -2 - 6 N 4 - - GFAP Leu76Phe L76F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y 0 - 6 N 7 - - GFAP Leu352Pro L352P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 4 - - GFER Arg194His R194H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - GFI1 Asn382Ser N382S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - GFI1 Lys403Arg K403R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.034 - - -3 - 2 N - - GFM1 Arg47Stop R47X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GFM1 Asn174Ser N174S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 3 - - GFM1 Met496Arg M496R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 3 - - GGCX Arg476Cys R476C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - GGCX Arg476His R476H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 1 - - GGCX Arg485Pro R485P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 5 Y 5 N - - GGCX Gln374Stop Q374X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - GGCX Gly537Tyr G537Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - GGCX Gly558Arg G558R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N - - GGCX Leu394Arg L394R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 6 Y 5 N 10 - - GGCX Phe299Ser F299S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 2 - - GGCX Ser300Phe S300F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.56 Y - 5 Y 4 N 3 - - GGCX Trp493Ser W493S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 2 - - GGCX Trp501Ser W501S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 7 Y 5 N 10 - - GGCX Val255Met V255M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 0 - 5 N 9 - - GH1 Arg77Cys R77C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - GH1 Arg183His R183H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - GH1 Asp112Gly D112G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - GH1 Cys53Ser C53S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - GH1 Trp20Stop W20X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - GHR Arg43Stop R43X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GHR Arg161Cys R161C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 9 - - GHR Arg217Stop R217X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GHR Asp152His D152H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - GHR Cys38Stop C38X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GHR Cys83Stop C83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GHR Cys94Ser C94S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - GHR Gln154Pro Q154P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 9 - - GHR Glu44Lys E44K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - GHR Glu224Asp E224D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 4 - - GHR Glu224Stop E224X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - GHR His150Gln H150Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - GHR Ile153Thr I153T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.055 Y - 3 - 3 N 10 - - GHR Leu526Ile L526I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 10 - - GHR Phe96Ser F96S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 6 - - GHR Pro131Gln P131Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - GHR Trp16Stop W16X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GHR Val144Ile V144I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 7 - - GHR Val155Gly V155G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 9 - - GHRHR Ala222Glu A222E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GHRHR Glu72Stop E72X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GHRHR Leu144His L144H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - GHRHR Lys329Glu K329E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - GHRHR Phe242Cys F242C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - GHRL Arg51Gln R51Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - GHSR Ala204Glu A204E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.064 - - 3 - 2 N - - GIF Gln5Arg Q5R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 10 - - GIF Ser46Leu S46L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 6 Y 4 N 10 - - GIGYF2 Asn56Ser N56S pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.181 - - 0 - 2 N - - GIGYF2 Asn457Thr N457T pathogenic Insufficiently evaluated pathogenic unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 1 - 2 N - - GIGYF2 Asp606Glu D606E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.99 - - -2 - 4 N - - GIGYF2 Ile278Val I278V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.049 - - -4 - 2 N - - GJA1 Arg33Stop R33X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - GJA1 Arg362Gln R362Q pathogenic Insufficiently evaluated pathogenic unknown Array rs2227885 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 0 - 5 N 3 - - GJA1 Arg376Gln R376Q pathogenic Insufficiently evaluated pathogenic unknown Array 4 10718 0.000373203 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 0 - 5 N 1 - - GJA1 Gly21Arg G21R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - GJA1 Gly22Glu G22E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 8 - - GJA1 Gly143Ser G143S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.055 Y - 2 - 3 N 10 - - GJA1 His194Pro H194P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - GJA1 Leu11Pro L11P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 7 Y 5 N 1 - - GJA1 Ser18Pro S18P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 6 - - GJA1 Tyr17Ser Y17S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - GJA1 Val96Met V96M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.239 Y - 0 - 4 N 1 - - GJA3 Arg76His R76H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 1 - 4 N 9 - - GJA3 Asn63Ser N63S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.89 - - 0 - 4 N 10 - - GJA3 Pro187Leu P187L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 7 Y 4 N 10 - - GJA5 Ala96Ser A96S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.167 - - -1 - 2 N - - GJA5 Pro88Ser P88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - GJA8 Arg23Thr R23T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 2 Y - - - - - - 3 - 5 Y Y Y - - 0.997 - - 3 - 4 N 10 - - GJA8 Arg198Gln R198Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 1 Y 1 - 5 Y - - 3 - 5 Y Y Y - - 0.994 - - 0 - 4 Y 8 - - GJA8 Asp47Asn D47N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - - - 3 - 5 Y Y Y - - 0.999 - - -1 - 4 N 7 - - GJA8 Glu48Lys E48K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - - - 3 - 5 Y Y Y - - 0.999 - - 0 - 4 N 10 - - GJA8 Ile247Met I247M pathogenic Insufficiently evaluated pathogenic dominant Array rs80358202 27 10758 0.00250976 1 0 1 4 4 1 Y - - - - 4 Y 3 - 5 Y Y Y - - 0.002 - - -1 - 2 Y 9 - - GJA8 Pro88Ser P88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 2 Y - - - - 2 - 3 - 5 Y Y Y - - 1.0 - - 3 - 4 N 10 - - GJA8 Val44Glu V44E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 2 Y - - 4 Y - - 3 - 5 Y Y Y - - 0.974 - - 5 Y 4 Y 8 - - GJB1 Arg142Trp R142W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GJB1 Arg220Stop R220X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - GJB1 Asn205Ser N205S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 6 - - GJB1 Ile30Asn I30N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 6 - - GJB1 Leu156Arg L156R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.695 Y Y 6 Y 5 N 4 - - GJB1 Phe235Cys F235C pathogenic Insufficiently evaluated pathogenic unknown Array 32 8755 0.00365505 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.129 Y Y 4 Y 4 N 8 - - GJB1 Pro172Ser P172S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 5 - - GJB1 Ser85Cys S85C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 3 - 6 N 10 - - GJB1 Thr55Ile T55I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - GJB1 Trp133Arg W133R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 5 - - GJB1 Tyr65Cys Y65C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - GJB1 Val13Leu V13L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.189 Y Y 0 - 4 N 4 - - GJB1 Val95Met V95M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 0 - 6 N 10 - - GJB1 Val136Ala V136A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 2 - 4 N 10 - - GJB1 Val139Met V139M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.18 Y Y 0 - 4 N 10 - - GJB2 Arg75Gln R75Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - GJB2 Arg75Trp R75W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GJB2 Arg143Gln R143Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - GJB2 Arg143Trp R143W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GJB2 Arg184Pro R184P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - GJB2 Asn54Lys N54K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - GJB2 Asp50Asn D50N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.624 Y Y -1 - 5 N 10 - - GJB2 Asp50Tyr D50Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y Y 7 Y 6 N 7 - - GJB2 Asp66His D66H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - GJB2 Asp159Val D159V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.015 Y Y 8 Y 4 N 9 - - GJB2 Asp179Asn D179N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - GJB2 Cys202Phe C202F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - GJB2 Glu47Stop E47X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GJB2 Gly12Arg G12R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.441 Y Y 6 Y 5 N 10 - - GJB2 Gly45Glu G45E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - GJB2 Gly59Ala G59A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - GJB2 Gly59Ser G59S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - GJB2 His73Arg H73R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 7 - - GJB2 Leu90Pro L90P pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - GJB2 Met34Thr M34T pathogenic Moderate clinical importance, pathogenic recessive Array rs35887622 107 10758 0.00994609 1 0 1 1 0 - - - - 5 Y 5 Y 3 - 1 - Y Y - - 0.808 Y Y 2 - 5 N 10 1 2 Several labs have reported in ClinVar that this causes deafness in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/variation/17000/ This variant seems to be "mild", with a stronger effect when combined with a more severe variant. The variant is relatively common: according to ExAC data, 1 in 40 with European ancestry (and 1 in 25 Finnish) are carriers of this variant. Löppönen et al 2012 report that homozygotes for the variant have mild to moderate hearing impairment. GJB2 Ser17Phe S17F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.85 Y Y 5 Y 6 N 10 - - GJB2 Trp24Stop W24X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GJB2 Trp44Cys W44C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GJB2 Trp44Ser W44S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GJB2 Trp77Arg W77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GJB2 Trp77Stop W77X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GJB2 Val84Leu V84L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 10 - - GJB2 Val84Met V84M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 10 - - GJB3 Ala194Thr A194T benign Low clinical importance, Likely benign undefined Array 0 0 0 0 0 1 Y - - 5 Y - - - - - - Y Y - - 0.002 Y Y 1 - 4 N 10 0 1 Reported to cause deafness when combined with a pathogenic mutation in another gene (GJB2). This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000006866/) and is reported by Liu et al 2009 (PMID: 19050930) who found this variant heterozygous in one of 108 Chinese patients already carrying a putatively pathogenic a GJB2 variant. However, in ExAC data this variant has an allele frequency of 0.72% in east asian ancestry. Thus, 1 in 70 are expected to carry it heterozygously in this population; matching Liu et al's observation in cases. Due to high allele frequency, and lack of enrichment for the variant cases, the proposed effect should be considered disproven. GJB3 Arg42Pro R42P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 5 Y 6 N 10 - - GJB3 Arg180Stop R180X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GJB3 Asn166Ser N166S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GJB3 Cys86Ser C86S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - GJB3 Glu183Lys E183K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - GJB3 Gly12Arg G12R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - GJB3 Gly12Asp G12D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 4 Y 6 N 10 - - GJB3 Ile141Val I141V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y -4 - 4 N 10 - - GJB3 Leu34Pro L34P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 7 Y 6 N 10 - - GJB4 Arg22His R22H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - GJB4 Gly12Asp G12D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 10 - - GJB4 Phe137Leu F137L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.032 Y - 0 - 3 N 10 - - GJB4 Phe189Tyr F189Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - -4 - 5 N 10 - - GJB4 Thr85Pro T85P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 4 Y 5 N 10 - - GJB6 Ala88Val A88V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 10 - - GJB6 Gly11Arg G11R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 6 Y 6 N 10 - - GJB6 Thr5Met T5M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.334 Y Y 2 - 5 N 10 - - GJB6 Val37Glu V37E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 5 Y 6 N 10 - - GJC2 Arg240Stop R240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - GJC2 Met286Thr M286T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.957 Y - 2 - 5 N 1 - - GJC2 Pro90Ser P90S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 3 - - GJC2 Tyr272Asp Y272D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 7 Y 5 N 1 - - GK Arg413Stop R413X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - GK Asn288Asp N288D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - GK Asp440Val D440V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 8 - - GK Trp503Arg W503R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - GLA Ala20Pro A20P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.011 Y Y 2 - 4 N 10 - - GLA Ala143Pro A143P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.551 Y Y 2 - 5 N 8 - - GLA Ala143Thr A143T pathogenic Insufficiently evaluated pathogenic unknown Array 4 8761 0.000456568 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.324 Y Y 1 - 5 N 10 - - GLA Ala156Thr A156T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.934 Y Y 1 - 6 N 3 - - GLA Arg227Gln R227Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - GLA Arg227Stop R227X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - GLA Arg301Gln R301Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - GLA Arg342Gln R342Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y 0 - 6 N 10 - - GLA Arg342Stop R342X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - GLA Arg356Trp R356W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y 7 Y 6 N 10 - - GLA Asn34Ser N34S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 0 - 6 N 10 - - GLA Asn215Ser N215S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.281 Y Y 0 - 5 N 10 - - GLA Asn272Ser N272S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 3 - - GLA Asp264Val D264V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 1 - - GLA Asp266Val D266V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 2 - - GLA Asp313Tyr D313Y pathogenic Insufficiently evaluated pathogenic unknown Array 30 8761 0.00342427 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y Y 7 Y 6 N 10 - - GLA Cys56Gly C56G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 4 - - GLA Cys202Trp C202W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - GLA Gln279Glu Q279E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -2 - 6 N 10 - - GLA Gln327Lys Q327K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -2 - 6 N 7 - - GLA Glu398Stop E398X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - GLA Gly328Ala G328A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 1 - 6 N 5 - - GLA Gly328Arg G328R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 8 - - GLA Gly361Arg G361R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 2 - - GLA Met296Ile M296I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 8 - - GLA Met296Val M296V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 8 - - GLA Pro40Ser P40S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - GLA Pro146Ser P146S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 6 - - GLA Ser65Thr S65T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y -2 - 6 N 10 - - GLA Ser297Phe S297F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 8 - - GLA Thr410Ala T410A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.129 Y Y 1 - 4 N 4 - - GLA Trp44Stop W44X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - GLA Trp162Arg W162R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 5 - - GLA Trp287Stop W287X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLA Trp340Stop W340X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLA Tyr222Stop Y222X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - GLA Tyr365Stop Y365X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLA Val269Ala V269A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 1 - - GLB1 Arg49Cys R49C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - GLB1 Arg59His R59H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10118 9.8833e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - GLB1 Arg68Trp R68W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 7 - - GLB1 Arg201Cys R201C pathogenic Insufficiently evaluated pathogenic unknown Array 2 9634 0.000207598 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - GLB1 Arg208Cys R208C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - GLB1 Arg351Stop R351X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - GLB1 Arg457Gln R457Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 9944 0.000100563 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - GLB1 Arg457Stop R457X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GLB1 Arg482Cys R482C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - GLB1 Arg482His R482H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - GLB1 Gln408Pro Q408P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 4 - - GLB1 Gly123Arg G123R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - GLB1 Gly438Glu G438E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 6 - - GLB1 Ile51Thr I51T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - GLB1 Thr82Met T82M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10190 9.8135e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - GLB1 Thr500Ala T500A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 8 - - GLB1 Trp273Leu W273L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - GLB1 Trp509Cys W509C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - GLB1 Tyr83His Y83H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 4 - - GLB1 Tyr316Cys Y316C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 4 - - GLB1 Tyr591Asn Y591N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 9 - - GLB1 Tyr591Cys Y591C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 8 - - GLDC Ala389Val A389V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - GLDC Ala802Val A802V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - GLDC Arg515Ser R515S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - GLDC Arg739His R739H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - GLDC Gly761Arg G761R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - GLDC Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - GLDC Ser564Ile S564I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - GLE1 Arg569His R569H pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 1 - 4 N - - GLE1 Ile684Thr I684T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.364 - - 3 - 3 N - - GLE1 Val617Met V617M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.937 - - 0 - 4 N - - GLI2 Arg151Gly R151G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - GLI2 Trp113Stop W113X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLI3 Arg290Stop R290X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLI3 Arg625Trp R625W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GLI3 Arg643Stop R643X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GLI3 Arg792Stop R792X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - GLI3 Gln496Stop Q496X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLI3 Glu543Stop E543X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GLI3 Glu1147Stop E1147X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GLI3 Gly727Arg G727R pathogenic Low clinical importance, Uncertain pathogenic dominant Array 59 10758 0.00548429 0 0 0 1 1 ! Y - - ! Y 2 Y 1 Y 2 Y Y Y - - 0.054 Y Y 6 Y 4 N 10 0 0 Reported to cause postaxial polydactyly in a dominant manner. However it was only observed in one family, another linked variant in the region may have been causal. Data in the exome variant server shows 1 in 100 carry this variant, contracting the polydactyly effect -- if that hypothesis were true, this variant is common enough that it would account for a large fraction of cases (i.e. many other publications would exist confirming the hypothesis). Other variants in this gene cause Pallister-Hall syndrome, which causes many traits including polydactyly and hypothalamic hamartoma (a congenital brain malformation that can cause seizures). GLI3 Pro707Ser P707S pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 8 - - GLO1 Ala111Glu A111E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GLRA1 Arg271Gln R271Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GLRA1 Arg271Leu R271L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GLRA1 Gln266His Q266H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - GLRA1 Ile244Asn I244N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - GLRA1 Lys276Glu K276E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GLRA1 Met147Val M147V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - GLRA1 Pro250Thr P250T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - GLRA1 Ser231Arg S231R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - GLRA1 Ser296Stop S296X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GLRA1 Tyr202Stop Y202X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - GLRA1 Tyr279Cys Y279C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GLRA1 Val260Met V260M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GLRB Gly229Asp G229D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - GLRX5 Gln98Gln Q98Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -11 - 3 N - - GLUD1 Arg221Cys R221C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 8 - - GLUD1 Arg265Lys R265K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 1 - - GLUD1 Arg269His R269H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 9 - - GLUD1 Glu296Ala E296A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - GLUD1 Gly446Asp G446D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - GLUD1 Gly446Ser G446S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - GLUD1 His454Tyr H454Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - GLUD1 Ser445Leu S445L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - GLUD1 Ser448Pro S448P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 8 - - GLUL Arg324Cys R324C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.265 - - 8 Y 3 N - - GLUL Arg341Cys R341C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.05 - - 8 Y 2 N - - GM2A Arg169Pro R169P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 6 - - GM2A Cys107Arg C107R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - GM2A Glu54Stop E54X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - GNAI2 Arg179Cys R179C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - GNAI2 Arg179Gly R179G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - GNAI2 Arg179His R179H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - GNAI2 Phe200Leu F200L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.158 - - 0 - 2 N - - GNAS Ala366Ser A366S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - GNAS Arg201Cys R201C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - GNAS Arg201Gly R201G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - GNAS Arg201His R201H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - GNAS Arg201Ser R201S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - GNAS Arg231His R231H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 5 - - GNAS Arg258Ala R258A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - GNAS Arg258Trp R258W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - GNAS Cys165Arg C165R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - GNAS Gln170Ala Q170A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - GNAS Gln227Arg Q227R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 9 - - GNAS Gln227His Q227H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 5 - - GNAS Leu99Pro L99P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - GNAS Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - GNAS Ser250Arg S250R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 7 - - GNAS Tyr391Stop Y391X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - GNAS1 Pro115Leu P115L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 3 - - GNAT1 Gly38Asp G38D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - GNAT2 Gln79Stop Q79X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 9 - - GNE Ala460Val A460V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 7 - - GNE Ala631Thr A631T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - GNE Ala631Val A631V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - GNE Arg246Gln R246Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GNE Arg263Leu R263L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - GNE Arg266Gln R266Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GNE Arg266Trp R266W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - GNE Asp225Asn D225N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 6 - - GNE Cys303Stop C303X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - GNE Cys303Val C303V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - GNE Gly576Glu G576E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GNE Met171Val M171V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - GNE Met712Thr M712T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - GNE Val572Leu V572L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GNE Val696Met V696M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - GNMT His176Asn H176N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - GNMT Leu49Pro L49P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.946 - - 7 Y 4 N - - GNPAT Arg211Cys R211C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N - - GNPAT Arg211His R211H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 5 - - GNPTAB Arg1189Stop R1189X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - GNPTAB Asp407Gly D407G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N - - GNPTAB Gln104Stop Q104X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - GNPTAB Lys4Gln K4Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 Y Y -2 - 5 N 5 - - GNPTAB Phe374Leu F374L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 6 - - GNPTAB Ser1058Stop S1058X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - GNPTAB Trp894Stop W894X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - GNPTG Gly106Ser G106S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 2 - 4 N 1 - - GNPTG Trp111Stop W111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - GNRHR Ala129Asp A129D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y Y 5 Y 6 N 10 - - GNRHR Ala171Thr A171T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.171 Y Y 1 - 4 N 9 - - GNRHR Arg139His R139H pathogenic High clinical importance, Likely pathogenic recessive Array 1 10758 0.000092954 0 0 0 0 0 - - 2 Y 4 Y - - 3 - 4 - Y Y - - 0.988 Y Y 1 - 6 N 10 2 1 Reported to cause hypogonadotropic hypogonadism in a recessive manner, and is reported by ClinVar where it has been reported by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030914/). This report comes from Costa et al 2001 (PMID: 11397871), who studied 14 familias and saw this homozygous in one patient. In ExAC data this is rare; 1 in 3000 are carriers for this variant. GNRHR Arg262Gln R262Q pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - GNRHR Asn10Lys N10K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - GNRHR Gln106Arg Q106R pathogenic High clinical importance, Uncertain pathogenic recessive Array 31 10758 0.00288158 0 0 0 1 1 1 Y - - 0 Y - - 3 - 4 - Y Y - - 0.834 Y Y 0 - 5 N 10 2 0 Hypothesized as causing hypogonadotropic hypogonadism in a recessive manner, but there is no statistically significant enrichment for this variant in cases reported. GNRHR Glu90Lys E90K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y Y 0 - 5 N 10 - - GNRHR Leu314Stop L314X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GNRHR Pro320Leu P320L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 9 - - GNRHR Ser168Arg S168R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 3 - 4 N 10 - - GNRHR Ser217Arg S217R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 3 - 4 N 10 - - GNRHR Tyr284Cys Y284C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - GNS Arg355Stop R355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - GNS Gln390Stop Q390X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - GP1BA Ala156Val A156V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - GP1BA Gly233Val G233V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - GP1BA Leu57Phe L57F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - GP1BA Met239Val M239V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - GP1BA Trp126Stop W126X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - GP1BA Trp343Stop W343X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - GP1BA Trp498Stop W498X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - GP1BB Ala108Pro A108P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - GP1BB Trp21Stop W21X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - GP1BB Tyr88Cys Y88C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - GP9 Asn45Ser N45S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - GP9 Asp21Gly D21G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 2 - - GP9 Cys8Arg C8R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - GP9 Leu7Pro L7P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y - 7 Y 5 N 10 - - GP9 Leu40Pro L40P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - GP9 Phe55Ser F55S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - GPA Gly59Arg G59R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - GPC3 Ala1902Thr A1902T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - GPC3 Arg199Stop R199X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GPC3 Arg387Stop R387X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - GPC3 His558Tyr H558Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - GPC3 Trp296Arg W296R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - GPC6 Arg234Stop R234X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GPD1L Ala280Val A280V pathogenic Insufficiently evaluated pathogenic unknown Array rs72552291 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - GPD1L Arg273Cys R273C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.816 - - 8 Y 3 N - - GPD1L Glu83Lys E83K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.003 - - 0 - 2 N - - GPD1L Ile124Val I124V pathogenic High clinical importance, Uncertain pathogenic dominant Array rs72552293 12 10758 0.00111545 1 0 1 1 1 ! Y - - 0 Y 0 Y 5 - 1 - - Y - - - - - -4 - 3 N 2 0 Found in a single SIDS case (out of 304 total cases). Although the authors described a functional impact of the variant in cell lines, the findings in human subjects did not have statistical significance and there is currently no clinical testing for variants in this gene. GPD2 Phe635Ser F635S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.836 - - 5 Y 3 N - - GPHN Asn10Tyr N10Y pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.679 - Y 5 Y 4 N 10 - - GPI Arg346His R346H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - GPI Asp539Asn D539N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -1 - 4 N - - GPI Gly158Ser G158S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - GPI His20Pro H20P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - GPI Ile524Thr I524T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - GPI Leu339Pro L339P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - GPI Thr224Met T224M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.925 - - 2 - 4 N - - GPR143 Gly35Asp G35D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y 4 Y 6 N 4 - - GPR143 Ser89Phe S89F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 10 - - GPR143 Ser152Asn S152N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 2 - - GPR143 Thr232Lys T232K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 1 - - GPR143 Trp133Arg W133R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - GPR56 Arg38Trp R38W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - GPR56 Arg565Trp R565W pathogenic High clinical importance, pathogenic recessive Array 0 0 0 2 2 3 Y - - 4 Y 2 Y 4 - 1 - Y Y - - - Y Y 7 Y 5 Y 2 2 2 Believed to cause bilateral frontoparietal polymicrogyria in a recessive manner, causing neurological deficits. This is the only gene implicated in the disease. This variant found in a consanguineous Bedouin kindred and was not seen in 260 control chromosomes. GPR56 Cys91Ser C91S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - GPR56 Cys346Ser C346S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - GPR56 Tyr88Cys Y88C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - GPR98 Gln2301Stop Q2301X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - GPR98 Ser2652Stop S2652X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GPR98 Tyr6044Cys Y6044C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - GPT His14Asp H14D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 6 - - GPX1 Pro197Leu P197L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - GRHPR Arg99Stop R99X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - GRIA3 Arg631Ser R631S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - GRIA3 Gly833Arg G833R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.983 - - 6 Y 4 N - - GRIA3 Met706Thr M706T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 2 - 4 N - - GRK1 Phe391His F391H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - GRK1 Val380Asp V380D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - GRM6 Arg621Stop R621X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - GRM6 Cys522Tyr C522Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - GRM6 Gln708Stop Q708X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GRM6 Glu781Lys E781K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 0 - 5 N 3 - - GRM6 Gly150Ser G150S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 2 - 5 N 2 - - GRM6 Ile405Thr I405T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y - 3 - 5 N 3 - - GRM6 Pro46Leu P46L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.616 Y - 7 Y 4 N 3 - - GRN Ala9Asp A9D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.687 Y Y 5 Y 5 N 10 - - GRN Arg493Stop R493X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - GRN Gln125Stop Q125X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - GRN Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 10 - - GRN Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - GSN Asp187Asn D187N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - GSN Asp187Tyr D187Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - GSS Arg125Cys R125C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 8 Y 4 N 4 - - GSS Arg164Gln R164Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.78 - - 0 - 3 N - - GSS Arg267Trp R267W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N 1 - - GSS Arg283Cys R283C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 8 Y 4 N 2 - - GSS Asp219Gly D219G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 4 Y 4 N 3 - - GTF2H5 Arg56Stop R56X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - GTF2H5 Leu21Pro L21P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.935 - - 7 Y 4 N - - GUCA1A Leu151Phe L151F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 0 - 5 N 10 - - GUCA1A Pro50Leu P50L pathogenic Insufficiently evaluated pathogenic unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y - 7 Y 3 N 10 - - GUCA1A Tyr99Cys Y99C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - GUCA1B Gly157Arg G157R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.164 Y - 6 Y 3 N 9 - - GUCY2D Arg838Cys R838C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - GUCY2D Arg838His R838H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - GUCY2D Phe565Ser F565S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 5 - - GUSB Ala354Val A354V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.909 Y - 2 - 5 N 2 - - GUSB Ala619Val A619V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 10 - - GUSB Arg216Trp R216W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 4 - - GUSB Arg356Stop R356X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GUSB Arg382Cys R382C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 5 - - GUSB Arg577Leu R577L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 1 - - GUSB Arg611Trp R611W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - GUSB Leu176Phe L176F pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - GUSB Lys350Asn K350N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 1 - - GUSB Pro148Ser P148S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 2 - - GUSB Trp446Stop W446X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - GUSB Trp507Stop W507X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GUSB Trp627Cys W627C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 4 - - GUSB Tyr495Cys Y495C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 4 - - GYPD Asn8Ser N8S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - GYPD Leu14Phe L14F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - GYS1 Arg462Stop R462X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GYS2 Ala339Pro A339P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y - 2 - 5 N - - GYS2 Arg246Stop R246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - GYS2 Asn39Ser N39S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N - - GYS2 His446Asp H446D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N - - GYS2 Met491Arg M491R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y - 4 Y 5 N - - GYS2 Pro479Gln P479Q pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N - - GYS2 Ser483Pro S483P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N - - HABP2 Gly534Glu G534E pathogenic Moderate clinical importance, Likely pathogenic unknown Array 302 10758 0.0280721 0 0 0 2 2 2 Y - - 4 Y - - 4 Y 4 Y Y Y - - 1.0 Y - 6 Y 5 N 10 1 1 Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD. HADH Ala28Thr A28T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HADH Asp45Glu D45E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HADH Pro258Leu P258L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - HADHA Arg255Stop R255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - HADHA Arg524Stop R524X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - HADHA Gln342Stop Q342X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - HADHA Glu474Gln E474Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 10 - - HADHA Ile269Asn I269N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 3 - - HADHA Leu342Pro L342P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 7 Y 5 N 1 - - HADHA Val246Asp V246D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - HADHB Arg61His R61H pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 3 - - HADHB Arg247His R247H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.136 Y - 1 - 3 N 4 - - HADHB Arg411Lys R411K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -3 - 4 N 7 - - HADHB Asp263Gly D263G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 4 Y 5 N - - HAL Arg206Thr R206T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.818 Y - 3 - 4 N 3 - - HAL Arg208Leu R208L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 4 - - HAL Arg322Pro R322P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 3 - - HAL Pro259Leu P259L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - HAMP Arg56Stop R56X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HAMP Gly71Asp G71D pathogenic Low clinical importance, Uncertain pathogenic recessive Array 21 10758 0.00195204 0 0 0 1 1 2 Y - - 0 Y 0 Y 4 - 4 - Y Y - - 0.734 Y Y 4 Y 5 Y 0 0 In a study from a small family (parent & two children), this variant was reported to have a modifier effect on hereditary haemochromatosis, increasing the severity of iron overload. Individuals were also homozygous or heterozygous for HFE C282Y. The variant was seen heterozygously in three of 1022 control chromosomes. HAX1 Arg86Stop R86X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - HAX1 Gln190Stop Q190X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - HBA1 Ala5Asp A5D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBA1 Ala5Pro A5P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - HBA1 Ala12Asp A12D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Ala19Asp A19D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Ala19Glu A19E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA1 Ala21Asp A21D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBA1 Ala21Pro A21P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBA1 Ala26Glu A26E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA1 Ala53Asp A53D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBA1 Ala63Asp A63D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Ala65Val A65V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA1 Ala71Glu A71E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Ala71Val A71V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBA1 Ala79Thr A79T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Ala82Asp A82D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Ala88Ser A88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Ala110Asp A110D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Ala110Thr A110T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Ala111Thr A111T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Ala115Asp A115D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Ala120Glu A120E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Ala123Ser A123S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Ala130Asp A130D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Arg92Gln R92Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBA1 Arg92Leu R92L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Arg92Trp R92W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Arg141Cys R141C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBA1 Arg141Gly R141G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Arg141His R141H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Arg141Leu R141L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Arg141Pro R141P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Arg141Ser R141S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Asn9Lys N9K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - HBA1 Asn68Asp N68D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asn78Asp N78D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asn78Lys N78K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBA1 Asn97His N97H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Asn97Lys N97K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Asp6Ala D6A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - HBA1 Asp6Asn D6N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - HBA1 Asp6Gly D6G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - HBA1 Asp6Tyr D6Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - HBA1 Asp6Val D6V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBA1 Asp47Ala D47A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Asp47Asn D47N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asp47Gly D47G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Asp64Asn D64N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asp64Gly D64G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Asp64His D64H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Asp64Tyr D64Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Asp74Ala D74A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBA1 Asp74Asn D74N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asp74Gly D74G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Asp74His D74H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Asp75Ala D75A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBA1 Asp75Asn D75N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asp75Gly D75G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Asp75His D75H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Asp75Tyr D75Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Asp85Asn D85N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Asp85Tyr D85Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Asp94Asn D94N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 3 - - HBA1 Asp94Glu D94E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Asp94Gly D94G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Asp94His D94H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Asp94Tyr D94Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Asp126His D126H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Asp126Tyr D126Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Asp126Val D126V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBA1 Cys104Ser C104S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA1 Gln54Arg Q54R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Gln54Glu Q54E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Glu23Asp E23D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Glu23Gln E23Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Glu23Gly E23G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Glu23Lys E23K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 8 - - HBA1 Glu23Val E23V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Glu27Asp E27D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Glu27Gly E27G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Glu27Lys E27K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HBA1 Glu30Lys E30K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HBA1 Glu116Ala E116A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Glu116Gln E116Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Glu116Lys E116K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBA1 Gly15Arg G15R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Gly18Arg G18R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Gly18Asp G18D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - HBA1 Gly22Asp G22D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Gly51Arg G51R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Gly51Asp G51D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Gly51Ser G51S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA1 Gly57Arg G57R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Gly57Asp G57D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Gly59Asp G59D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Gly59Val G59V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBA1 His20Arg H20R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His20Gln H20Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His20Tyr H20Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His45Arg H45R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His45Asp H45D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA1 His45Gln H45Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His45Pro H45P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 His50Arg H50R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His58Tyr H58Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His72Arg H72R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His72Gln H72Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His72Tyr H72Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His87Arg H87R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His87Asn H87N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 His87Tyr H87Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His89Arg H89R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His89Gln H89Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His89Leu H89L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 His89Pro H89P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 His89Tyr H89Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His103Arg H103R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His103Tyr H103Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 His112Arg H112R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 His112Asp H112D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 His122Gln H122Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Leu2Arg L2R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - HBA1 Leu34Arg L34R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Leu80Arg L80R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Leu86Arg L86R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBA1 Leu91Pro L91P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Leu113His L113H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Leu129Pro L129P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Leu136Arg L136R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Leu136Met L136M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N - - HBA1 Leu136Pro L136P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Lys7Asn K7N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys11Asn K11N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys11Gln K11Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Lys11Glu K11E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Lys16Asn K16N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys16Glu K16E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HBA1 Lys16Met K16M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Lys40Asn K40N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys40Glu K40E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Lys40Met K40M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Lys56Arg K56R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N - - HBA1 Lys56Asn K56N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys56Glu K56E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HBA1 Lys56Thr K56T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Lys60Asn K60N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys60Glu K60E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Lys61Thr K61T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Lys90Asn K90N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys90Met K90M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Lys90Thr K90T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Lys99Asn K99N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA1 Lys99Glu K99E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Lys127Asn K127N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBA1 Lys127Thr K127T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Lys139Thr K139T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA1 Met76Lys M76K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Met76Thr M76T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA1 Phe43Leu F43L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Phe43Val F43V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Pro37Arg P37R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBA1 Pro44Arg P44R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Pro44Leu P44L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Pro77Arg P77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Pro95Ala P95A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA1 Pro95Arg P95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Pro95Leu P95L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Pro95Thr P95T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA1 Pro114Arg P114R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA1 Pro114Leu P114L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Pro114Ser P114S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Ser3Phe S3F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 8 - - HBA1 Ser49Arg S49R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Ser81Cys S81C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA1 Ser84Arg S84R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Ser131Pro S131P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Ser138Pro S138P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA1 Thr41Ser T41S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA1 Trp14Arg W14R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA1 Tyr24Cys Y24C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA1 Tyr24His Y24H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Tyr140His Y140H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA1 Val55Leu V55L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Val93Ala V93A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA1 Val121Met V121M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA1 Val132Gly V132G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - HBA1 Val135Glu V135E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA2 Ala26Val A26V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA2 Ala65Thr A65T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBA2 Ala69Thr A69T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBA2 Ala88Val A88V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBA2 Ala111Val A111V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.245 Y Y 2 - 5 N - - HBA2 Ala130Pro A130P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA2 Arg31Ser R31S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA2 Asn9Lys N9K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - HBA2 Asn68Lys N68K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBA2 Asn78His N78H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA2 Asp47His D47H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA2 Asp47Tyr D47Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA2 Asp75Val D75V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.457 Y Y 8 Y 5 N 2 - - HBA2 Asp85Val D85V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBA2 Asp126Asn D126N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBA2 Cys104Tyr C104Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA2 Glu23Stop E23X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - HBA2 Glu27Val E27V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA2 Glu30Gln E30Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBA2 Glu116Stop E116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - HBA2 Gly15Asp G15D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBA2 Gly22Gly G22G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -9 - 5 N 1 - - HBA2 Gly59Arg G59R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - HBA2 His20Asp H20D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA2 His50Asp H50D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA2 His58Gln H58Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 3 - - HBA2 His72Asp H72D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA2 His103Tyr H103Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - HBA2 Leu29Pro L29P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - HBA2 Leu48Arg L48R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA2 Leu66Pro L66P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA2 Leu80Val L80V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA2 Leu109Arg L109R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA2 Leu113Arg L113R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - HBA2 Leu125Arg L125R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBA2 Leu125Pro L125P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA2 Leu136Pro L136P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBA2 Lys7Glu K7E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - HBA2 Lys16Glu K16E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBA2 Lys61Asn K61N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.13 Y Y 1 - 4 N - - HBA2 Lys90Arg K90R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N - - HBA2 Lys139Asn K139N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - HBA2 Lys139Glu K139E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HBA2 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 2 - 6 N 6 - - HBA2 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 0 - 6 N 5 - - HBA2 Phe33Ser F33S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBA2 Pro37Leu P37L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - HBA2 Pro77His P77H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBA2 Pro95Ser P95S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA2 Ser81Pro S81P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA2 Ser102Arg S102R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBA2 Ser133Arg S133R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBA2 Tyr140Stop Y140X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - HBA2 Val1Gly V1G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - HBA2 Val55Ala V55A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBA2 Val62Met V62M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Ala10Asp A10D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - HBB Ala10Val A10V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Ala13Asp A13D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - HBB Ala27Asp A27D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBB Ala27Ser A27S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - HBB Ala27Val A27V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Ala62Asp A62D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - HBB Ala62Pro A62P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Ala70Asp A70D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBB Ala70Val A70V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 3 - - HBB Ala76Asp A76D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBB Ala76Pro A76P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - HBB Ala86Asp A86D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 9 - - HBB Ala86Pro A86P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - HBB Ala115Asp A115D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Ala115Pro A115P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Ala128Asp A128D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - HBB Ala128Pro A128P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Ala128Val A128V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Ala129Asp A129D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.107 Y Y 5 Y 4 N - - HBB Ala129Pro A129P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.107 Y Y 2 - 4 N 1 - - HBB Ala129Val A129V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 2 - 4 N 1 - - HBB Ala135Glu A135E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Ala135Pro A135P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Ala138Pro A138P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Ala138Thr A138T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Ala140Asp A140D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Ala140Thr A140T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Ala140Val A140V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Ala142Asp A142D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Ala142Pro A142P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Arg30Ser R30S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - HBB Arg30Thr R30T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - HBB Arg40Lys R40K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 10 - - HBB Arg40Ser R40S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - HBB Arg104Ser R104S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Arg104Thr R104T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Asn19Asp N19D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - HBB Asn19Lys N19K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - HBB Asn19Ser N19S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - HBB Asn57Asp N57D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - HBB Asn57Lys N57K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - HBB Asn80Lys N80K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 6 - - HBB Asn102Lys N102K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Asn102Ser N102S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Asn102Thr N102T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Asn102Tyr N102Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Asn108Asp N108D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB Asn108Lys N108K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - HBB Asn139Asp N139D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - HBB Asn139Lys N139K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Asn139Thr N139T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Asn139Tyr N139Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - HBB Asp21Asn D21N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - HBB Asp21Gly D21G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - HBB Asp21His D21H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB Asp21Tyr D21Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - HBB Asp47Ala D47A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 6 - - HBB Asp47Asn D47N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - HBB Asp47Gly D47G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - HBB Asp47Tyr D47Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - HBB Asp52Ala D52A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - HBB Asp52Asn D52N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 9 - - HBB Asp52Gly D52G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - HBB Asp52His D52H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 8 - - HBB Asp73Asn D73N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - HBB Asp73Gly D73G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - HBB Asp73Tyr D73Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - HBB Asp73Val D73V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - HBB Asp79Asn D79N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 3 - - HBB Asp79Gly D79G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - HBB Asp79His D79H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - HBB Asp79Tyr D79Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - HBB Asp94Asn D94N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 8 - - HBB Asp94Gly D94G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - HBB Asp94His D94H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 8 - - HBB Asp94Tyr D94Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - HBB Asp99Ala D99A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - HBB Asp99Asn D99N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - HBB Asp99Glu D99E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - HBB Asp99Gly D99G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - HBB Asp99His D99H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - HBB Asp99Tyr D99Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - HBB Asp99Val D99V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - HBB Cys93Arg C93R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - HBB Cys112Arg C112R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - HBB Cys112Phe C112F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBB Cys112Tyr C112Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB Gln39Arg Q39R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - HBB Gln39Glu Q39E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 3 - - HBB Gln39Lys Q39K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - HBB Gln39Stop Q39X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HBB Gln127Arg Q127R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Gln127Glu Q127E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBB Gln127Lys Q127K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBB Gln127Pro Q127P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBB Gln131Arg Q131R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HBB Gln131Glu Q131E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBB Gln131His Q131H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB Gln131Lys Q131K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBB Gln131Pro Q131P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBB Glu6Ala E6A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBB Glu6Gln E6Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - HBB Glu6Lys E6K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HBB Glu6Val E6V pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - 5 - 5 - 5 - 5 - - - Y Y - - - Y Y 5 Y 5 N 10 - - Causes Sickle Cell Disease HBB Glu7Gly E7G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - HBB Glu7Lys E7K pathogenic Insufficiently evaluated pathogenic unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.012 Y Y 0 - 4 N 10 - - This is also called the HB-C allele of hemoglobine. This variant causes a type of Sickle Cell anemia when homozygous or combined with another pathogenic variant. When combined with the more common HB-S (HBB-E7V) variant, this results in the Hemoglobin SC variant of Sickle Cell Anemia, which has some differences in susceptibilities and complications. HBB Glu22Ala E22A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBB Glu22Gln E22Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 9 - - HBB Glu22Gly E22G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - HBB Glu22Lys E22K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - HBB Glu22Val E22V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBB Glu26Ala E26A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - HBB Glu26Gly E26G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - HBB Glu26Lys E26K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HBB Glu26Val E26V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - HBB Glu43Ala E43A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 6 - - HBB Glu43Gln E43Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 2 - - HBB Glu43Stop E43X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - HBB Glu90Asp E90D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 8 - - HBB Glu90Gly E90G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Glu90Lys E90K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - HBB Glu90Stop E90X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - HBB Glu101Asp E101D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - HBB Glu101Gln E101Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - HBB Glu101Gly E101G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB Glu101Lys E101K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBB Glu121Ala E121A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Glu121Gln E121Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 5 - - HBB Glu121Gly E121G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB Glu121Lys E121K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - HBB Glu121Stop E121X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - HBB Glu121Val E121V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Gly16Arg G16R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - HBB Gly16Asp G16D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - HBB Gly24Arg G24R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - HBB Gly24Asp G24D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - HBB Gly24Val G24V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - HBB Gly25Arg G25R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 4 - - HBB Gly25Asp G25D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 4 - - HBB Gly29Asp G29D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - HBB Gly29Ser G29S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - HBB Gly46Arg G46R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - HBB Gly46Glu G46E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - HBB Gly56Arg G56R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - HBB Gly56Asp G56D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - HBB Gly64Ala G64A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - HBB Gly64Asp G64D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - HBB Gly69Arg G69R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - HBB Gly69Asp G69D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - HBB Gly69Ser G69S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 5 - - HBB Gly74Arg G74R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - HBB Gly74Asp G74D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - HBB Gly74Val G74V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - HBB Gly83Arg G83R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - HBB Gly83Asp G83D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 7 - - HBB Gly83Cys G83C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - HBB Gly107Arg G107R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB Gly119Ala G119A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Gly119Val G119V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBB Gly136Arg G136R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Gly136Asp G136D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBB His2Arg H2R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - HBB His2Gln H2Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - HBB His2Leu H2L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - HBB His2Tyr H2Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - HBB His63Arg H63R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - HBB His63Pro H63P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - HBB His63Tyr H63Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - HBB His77Arg H77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBB His77Asp H77D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - HBB His77Tyr H77Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - HBB His92Arg H92R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - HBB His92Asp H92D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - HBB His92Gln H92Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 7 - - HBB His92Pro H92P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBB His92Tyr H92Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 8 - - HBB His97Asn H97N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HBB His97Gln H97Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - HBB His97Leu H97L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB His97Pro H97P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - HBB His97Tyr H97Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB His116Gln H116Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB His117Arg H117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB His117Pro H117P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.309 Y Y 5 Y 5 N - - HBB His117Tyr H117Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.602 Y Y -1 - 5 N - - HBB His143Arg H143R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB His143Asp H143D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB His143Gln H143Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB His143Pro H143P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB His143Tyr H143Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB His146Arg H146R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB His146Asp H146D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB His146Gln H146Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB His146Leu H146L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB His146Pro H146P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB His146Tyr H146Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - HBB Leu14Arg L14R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Leu14Pro L14P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - HBB Leu28Arg L28R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - HBB Leu28Gln L28Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBB Leu28Met L28M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 2 - - HBB Leu28Pro L28P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - HBB Leu31Arg L31R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - HBB Leu31Pro L31P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBB Leu32Arg L32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y Y 6 Y 6 N 5 - - HBB Leu32Gln L32Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 5 Y 6 N 9 - - HBB Leu32Pro L32P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 3 - - HBB Leu32Val L32V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.265 Y Y 0 - 5 N 1 - - HBB Leu48Arg L48R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Leu48Pro L48P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - HBB Leu68His L68H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - HBB Leu68Phe L68F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - HBB Leu68Pro L68P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - HBB Leu75Arg L75R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Leu75Pro L75P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - HBB Leu78Arg L78R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - HBB Leu81Arg L81R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Leu81His L81H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - HBB Leu88Arg L88R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - HBB Leu88Pro L88P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - HBB Leu91Arg L91R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - HBB Leu91Pro L91P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - HBB Leu96Pro L96P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - HBB Leu96Val L96V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBB Leu105Phe L105F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Leu106Arg L106R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y Y 6 Y 4 N - - HBB Leu106Gln L106Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.744 Y Y 5 Y 5 N - - HBB Leu106Pro L106P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 7 Y 6 N 2 - - HBB Leu110Pro L110P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - HBB Leu114Met L114M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N - - HBB Leu114Pro L114P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - HBB Leu141Arg L141R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - HBB Lys8Arg K8R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 10 - - HBB Lys8Asn K8N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - HBB Lys8Gln K8Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - HBB Lys8Glu K8E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HBB Lys8Met K8M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - HBB Lys8Thr K8T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBB Lys17Asn K17N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBB Lys17Gln K17Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 6 - - HBB Lys17Glu K17E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HBB Lys17Stop K17X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - HBB Lys59Asn K59N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBB Lys59Glu K59E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - HBB Lys59Thr K59T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Lys61Asn K61N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - HBB Lys61Gln K61Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 8 - - HBB Lys61Glu K61E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - HBB Lys61Met K61M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - HBB Lys61Stop K61X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - HBB Lys65Asn K65N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - HBB Lys65Gln K65Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - HBB Lys65Met K65M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 7 - - HBB Lys66Glu K66E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.291 Y Y 0 - 5 N 3 - - HBB Lys66Thr K66T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.468 Y Y 3 - 5 N 1 - - HBB Lys82Gln K82Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 5 - - HBB Lys82Glu K82E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - HBB Lys82Met K82M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 8 - - HBB Lys82Thr K82T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB Lys95Asn K95N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - HBB Lys95Asp K95D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - HBB Lys95Glu K95E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - HBB Lys95Met K95M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBB Lys120Asn K120N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Lys120Gln K120Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBB Lys120Glu K120E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Lys120Ile K120I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB Lys132Asn K132N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Lys132Gln K132Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBB Lys144Asn K144N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBB Lys144Glu K144E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Lys144Met K144M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - HBB Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.673 Y Y -1 - 5 N 10 - - HBB Met55Lys M55K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 6 - - HBB Phe41Cys F41C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - HBB Phe41Ser F41S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBB Phe41Tyr F41Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 1 - - HBB Phe42Leu F42L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.938 Y Y 0 - 6 N - - HBB Phe42Ser F42S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.929 Y Y 5 Y 6 N 1 - - HBB Phe42Val F42V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.695 Y Y 3 - 5 N - - HBB Phe45Cys F45C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 8 - - HBB Phe45Ser F45S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 9 - - HBB Phe71Ser F71S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - HBB Phe83Ser F83S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBB Phe85Ser F85S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBB Phe103Ile F103I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Phe103Leu F103L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Phe103Val F103V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Phe118Cys F118C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - HBB Phe118Tyr F118Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N - - HBB Phe122Leu F122L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Pro5Arg P5R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - HBB Pro5Ser P5S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBB Pro36Ala P36A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - HBB Pro36Arg P36R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 6 - - HBB Pro36His P36H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Pro36Ser P36S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - HBB Pro36Thr P36T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - HBB Pro51Arg P51R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - HBB Pro58Arg P58R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - HBB Pro100Arg P100R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - HBB Pro100Leu P100L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - HBB Pro124Arg P124R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBB Pro124Gln P124Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBB Pro124Leu P124L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBB Pro124Ser P124S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB Ser9Cys S9C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBB Ser9Tyr S9Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - HBB Ser44Cys S44C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - HBB Ser49Cys S49C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBB Ser49Phe S49F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - HBB Ser89Arg S89R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - HBB Ser89Asn S89N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Ser89Thr S89T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 3 - - HBB Thr38Asn T38N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - HBB Thr38Ile T38I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB Thr38Pro T38P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 8 - - HBB Thr50Lys T50K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - HBB Thr84Ala T84A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - HBB Thr84Ile T84I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - HBB Thr87Ile T87I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - HBB Thr87Lys T87K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 6 - - HBB Thr87Pro T87P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - HBB Thr123Asn T123N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - HBB Thr123Ile T123I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB Trp15Arg W15R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 6 - - HBB Trp15Gly W15G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - HBB Trp15Stop W15X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - HBB Trp37Arg W37R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - HBB Trp37Gly W37G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - HBB Trp37Ser W37S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - HBB Trp37Stop W37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - HBB Tyr35Phe Y35F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 8 - - HBB Tyr35Stop Y35X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - HBB Tyr130Asp Y130D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBB Tyr130Ser Y130S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Tyr145Cys Y145C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - HBB Tyr145His Y145H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N - - HBB Tyr145Stop Y145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - HBB Val1Ala V1A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - HBB Val1Gly V1G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - HBB Val1Leu V1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HBB Val11Asp V11D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - HBB Val11Ile V11I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 4 - - HBB Val11Phe V11F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - HBB Val18Met V18M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBB Val20Glu V20E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - HBB Val20Met V20M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 3 - - HBB Val23Ala V23A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - HBB Val23Asp V23D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - HBB Val23Gly V23G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 1 - - HBB Val23Phe V23F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Val34Asp V34D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.953 Y Y 8 Y 6 N 2 - - HBB Val34Met V34M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.522 Y Y 0 - 5 N 1 - - HBB Val34Phe V34F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.76 Y Y 3 - 5 N - - HBB Val54Asp V54D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 6 - - HBB Val60Ala V60A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - HBB Val60Glu V60E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - HBB Val60Leu V60L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - HBB Val67Ala V67A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - HBB Val67Glu V67E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - HBB Val67Gly V67G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - HBB Val67Met V67M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Val98Ala V98A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - HBB Val98Gly V98G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBB Val98Met V98M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBB Val109Leu V109L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Val109Met V109M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Val111Ala V111A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Val111Phe V111F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - HBB Val113Glu V113E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Val126Ala V126A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Val126Glu V126E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBB Val126Gly V126G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBB Val126Leu V126L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Val133Ala V133A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBB Val133Leu V133L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBB Val134Ala V134A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.082 Y Y 2 - 4 N - - HBB Val134Glu V134E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.04 Y Y 5 Y 4 N - - HBD Ala22Glu A22E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HBD Ala27Ser A27S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - HBD Ala142Asp A142D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBD Arg30Thr R30T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 8 - - HBD Arg105Ser R105S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - HBD Arg116Cys R116C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - HBD Arg116His R116H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - HBD Asn12Lys N12K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - HBD Asn58Lys N58K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - HBD Asp47Val D47V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - HBD Asp99Asn D99N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 6 - - HBD Cys93Gly C93G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - HBD Gln125Glu Q125E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N - - HBD Glu26Asp E26D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 8 - - HBD Glu43Gly E43G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - HBD Glu43Lys E43K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 8 - - HBD Glu90Val E90V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - HBD Glu121Val E121V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBD Gly16Arg G16R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - HBD Gly24Asp G24D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - HBD Gly25Asp G25D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - HBD Gly69Arg G69R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - HBD Gly136Asp G136D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - HBD His2Arg H2R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - HBD His146Arg H146R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - HBD Leu75Val L75V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - HBD Leu89Val L89V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - HBD Leu141Pro L141P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - HBD Pro37His P37H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 9 - - HBD Pro51Arg P51R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - HBD Trp37Stop W37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - HBD Val1Ala V1A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - HBD Val20Glu V20E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - HBD Val98Met V98M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - HBD Val133Ala V133A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - HBG1 Ala53Asp A53D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - HBG1 Ala128Thr A128T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG1 Arg40Lys R40K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - HBG1 Asp22Gly D22G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - HBG1 Asp43Asn D43N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG1 Asp73Asn D73N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG1 Asp73His D73H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - HBG1 Asp79Asn D79N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG1 Asp80Asn D80N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG1 Asp80Tyr D80Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HBG1 Gln39Arg Q39R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG1 Glu5Lys E5K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG1 Glu6Gln E6Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - HBG1 Glu6Gly E6G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG1 Glu121Lys E121K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG1 Gly25Arg G25R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG1 Gly72Arg G72R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG1 His2Gln H2Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG1 His97Arg H97R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG1 Ile75Thr I75T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - HBG1 Lys61Glu K61E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG1 Pro36Arg P36R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - HBG1 Thr12Arg T12R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - HBG1 Trp37Gly W37G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HBG1 Val134Met V134M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG2 Arg40Gly R40G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG2 Arg40Lys R40K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - HBG2 Asn19Lys N19K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG2 Asp7Asn D7N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG2 Asp22Gly D22G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - HBG2 Asp22Val D22V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - HBG2 Asp80Asn D80N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG2 Asp94Asn D94N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG2 Glu5Gly E5G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG2 Glu21Gln E21Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - HBG2 Glu26Lys E26K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG2 Glu101Lys E101K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG2 Glu121Lys E121K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG2 Glu125Ala E125A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - HBG2 Gly1Cys G1C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HBG2 Gly16Arg G16R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG2 Gly25Glu G25E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG2 Gly72Arg G72R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HBG2 His63Tyr H63Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG2 His77Arg H77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG2 His92Tyr H92Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG2 His117Arg H117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG2 His146Tyr H146Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - HBG2 Ile75Thr I75T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - HBG2 Lys17Asn K17N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG2 Lys59Gln K59Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - HBG2 Lys59Glu K59E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG2 Lys65Asn K65N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG2 Lys66Arg K66R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - HBG2 Lys66Gln K66Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - HBG2 Lys104Asn K104N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HBG2 Lys120Gln K120Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - HBG2 Met55Arg M55R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - HBG2 Phe41Ser F41S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - HBG2 Phe118Leu F118L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HBG2 Ser44Arg S44R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - HBG2 Trp15Arg W15R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HBG2 Trp130Gly W130G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HBG2 Val34Ile V34I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - HCCS Arg197Stop R197X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 - - 1 Y - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - This variant causes dominant microphthalmia with linear skin defect syndrome in heterozygous females and is lethal in utero to males. HCCS Arg217Cys R217C pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 1 Y 1 Y - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - This variant causes dominant microphthalmia with linear skin defect syndrome in heterozygous females and is lethal in utero to males. HCF2 Arg189His R189H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - HCF2 Pro443Leu P443L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HCN4 Asp553Asn D553N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y - -1 - 3 N 10 - - HCN4 Gly480Arg G480R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - HCN4 Ser672Arg S672R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - HCRT Leu16Arg L16R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.631 - - 6 Y 3 N - - HESX1 Arg160Cys R160C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - HESX1 Gln6His Q6H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - -1 - 3 N 10 - - HESX1 Glu149Lys E149K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - HESX1 Ile26Thr I26T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 10 - - HESX1 Ser170Leu S170L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.439 Y - 6 Y 4 N 10 - - HESX1 Thr181Ala T181A pathogenic Insufficiently evaluated pathogenic unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y - 1 - 3 N 10 - - HEXA Arg137Stop R137X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - HEXA Arg170Gln R170Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - HEXA Arg170Trp R170W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 6 - - HEXA Arg178Cys R178C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 5 - - HEXA Arg178His R178H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - HEXA Arg178Leu R178L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 2 - - HEXA Arg247Trp R247W benign Low clinical importance, Likely benign recessive Array 31 10758 0.00288158 0 0 0 3 2 ! Y 1 Y 4 Y 1 Y - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 0 1 Other variants in this gene cause Tay-Sachs disease. This variant causes "pseudodeficiency": some biochemical assays for detecting carriers of Tay-Sachs mutations will report also carriers of this variant (even though it does not cause the disease). HEXA Arg393Stop R393X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - HEXA Arg499Cys R499C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - HEXA Arg499His R499H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - HEXA Arg504Cys R504C pathogenic High clinical importance, Likely pathogenic recessive Array 1 10758 0.000092954 0 0 0 0 0 2 Y - - 5 Y - - 5 - 1 - Y Y - - 1.0 Y Y 8 Y 6 N 3 2 1 Reported to cause Tay-Sachs disease in a recessive manner, recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004112/). A couple different publications mention this variant, including Neudorfer et al 2005 (PMID: 15714079) who report 2 Tay-Sachs patients carrying this variant compound heterozygously out of 21 studied. HEXA Arg504His R504H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 2 - - HEXA Asp258His D258H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 2 - - HEXA Glu482Lys E482K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - HEXA Gly250Asp G250D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 6 - - HEXA Gly269Ser G269S pathogenic Insufficiently evaluated pathogenic recessive Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.02 Y Y 2 - 4 N 10 - - Adult onset Tay-Sachs Disease HEXA Gly454Ser G454S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N - - HEXA Gly805Ala G805A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 6 - - HEXA His204Arg H204R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N - - HEXA Leu39Arg L39R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N - - HEXA Leu127Arg L127R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 1 - - HEXA Leu451Val L451V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.872 Y Y 0 - 6 N 3 - - HEXA Lys197Thr K197T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N - - HEXA Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HEXA Met301Arg M301R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N - - HEXA Phe211Ser F211S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N - - HEXA Ser210Phe S210F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 6 - - HEXA Trp26Stop W26X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - HEXA Trp329Stop W329X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - HEXA Trp392Stop W392X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - HEXA Trp420Cys W420C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - HEXA Trp474Cys W474C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - HEXA Trp485Arg W485R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - HEXA Tyr180His Y180H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 2 - - HEXA Tyr180Stop Y180X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - HEXA Val324Val V324V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -8 - 5 N 10 - - HEXB Ala543Thr A543T pathogenic Insufficiently evaluated pathogenic unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.819 Y - 1 - 4 N 3 - - HEXB Arg284Stop R284X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - HEXB Arg505Gln R505Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - HEXB Pro405Leu P405L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - HEXB Pro417Leu P417L pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.867 Y - 7 Y 5 N 5 - - HEXB Pro504Ser P504S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 5 - - HEXB Ser62Leu S62L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.013 Y - 6 Y 3 N 2 - - This variant was seen as a compound heterozygote with a 25kb deletion in the same gene in an individual with Infantile Sandhoff disease. HEXB Tyr456Ser Y456S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.329 Y - 5 Y 4 N 3 - - HFE Arg330Met R330M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.831 Y Y 4 Y 5 N 10 - - HFE Gln127His Q127H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y -1 - 4 N 10 - - HFE Gln283Pro Q283P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 4 Y 6 N 10 - - HFE Gly93Arg G93R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 6 Y 6 N 10 - - HFE Ile105Thr I105T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 3 - 6 N 10 - - HFE Ser65Cys S65C pathogenic Low clinical importance, Uncertain pathogenic recessive Array 105 10758 0.00976018 0 0 0 2 1 1 Y - - 2 - - - 2 - 3 - Y Y - - 0.543 Y Y 3 - 5 N 10 0 0 A "mild" variant which may cause a very small increased risk of iron overload (hereditary hemachromatosis). HFE Val53Met V53M pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.606 Y Y 0 - 5 N 10 - - HFE Val59Met V59M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.738 Y Y 0 - 5 N 10 - - HGD Arg330Ser R330S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - HGD Gly161Arg G161R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - HGD Gly270Arg G270R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - HGD His371Arg H371R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - HGD Met368Val M368V pathogenic Insufficiently evaluated pathogenic unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - HGD Pro230Ser P230S pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 1 Y - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - HGD Val300Gly V300G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 1 Y - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - HGF Ser165Ser S165S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -9 - 5 N 4 - - HGSNAT Arg344Cys R344C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - HGSNAT Leu349Stop L349X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - HGSNAT Met510Lys M510K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 4 Y 5 N 1 - - HGSNAT Pro311Leu P311L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - HGSNAT Ser518Phe S518F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 4 - - HIBCH Tyr122Cys Y122C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - HJV Arg54Stop R54X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HJV Arg326Stop R326X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HJV Cys80Arg C80R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - HJV Cys321Stop C321X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HJV Gly320Val G320V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - HJV Ile222Asn I222N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - HJV Ile281Thr I281T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - HJV Leu101Pro L101P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - HK1 Leu529Ser L529S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - HLA-DPB1 Lys69Glu K69E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - HLCS Arg508Trp R508W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - HLCS Asp571Asn D571N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 2 - - HLCS Gly581Ser G581S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 8 - - HLCS Leu216Arg L216R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 6 Y 5 N 9 - - HLCS Leu237Pro L237P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 7 Y 5 N 8 - - HLCS Val550Met V550M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 10 - - HLXB9 Glu261Stop E261X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - HLXB9 Glu283Stop E283X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - HLXB9 Thr248Ser T248S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -2 - 3 N 3 - - HLXB9 Tyr166Stop Y166X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - HMBS Ala31Thr A31T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 1 - 6 N 3 - - HMBS Ala55Ser A55S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.239 Y Y -1 - 5 N 3 - - HMBS Ala252Thr A252T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.063 Y Y 1 - 4 N 2 - - HMBS Ala252Val A252V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.302 Y Y 2 - 5 N 3 - - HMBS Arg26His R26H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - HMBS Arg116Trp R116W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - HMBS Arg149Gln R149Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 5 - - HMBS Arg149Stop R149X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HMBS Arg167Gln R167Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - HMBS Arg167Leu R167L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 3 - - HMBS Arg167Trp R167W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - HMBS Arg173Gln R173Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - HMBS Arg201Trp R201W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - HMBS Cys247Arg C247R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 7 - - HMBS Gln34Lys Q34K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -2 - 6 N 4 - - HMBS Gln155Stop Q155X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - HMBS Glu223Lys E223K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 3 - - HMBS Glu250Lys E250K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 3 - - HMBS Gly111Arg G111R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - HMBS Gly216Asp G216D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 4 Y 6 N 2 - - HMBS His256Asn H256N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.978 Y Y 0 - 6 N 2 - - HMBS Leu81Pro L81P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 6 - - HMBS Leu177Arg L177R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 6 Y 6 N 3 - - HMBS Leu245Arg L245R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 6 Y 6 N 2 - - HMBS Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - HMBS Trp198Stop W198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HMBS Trp283Stop W283X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - HMCN1 Gln5345Arg Q5345R pathogenic Insufficiently evaluated pathogenic unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.053 Y - 0 - 3 N 5 - - HMGCL Arg41Gln R41Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 0 - 5 N 10 - - HMGCL Glu279Lys E279K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 6 - - HMGCL Val70Leu V70L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.389 Y - 0 - 4 N 3 - - HMGCS2 Arg424Stop R424X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - HMGCS2 Arg500His R500H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - HMGCS2 Gly212Arg G212R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.982 - - 6 Y 4 N - - HMGCS2 Phe174Leu F174L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.828 - - 0 - 3 N - - HMGCS2 Tyr167Cys Y167C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - HMGCS2 Val54Met V54M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 0 - 4 N - - HNF1A Ala276Asp A276D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 7 - - HNF1A Arg131Trp R131W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 7 - - HNF1A Arg272His R272H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - HNF1A Arg583Gln R583Q pathogenic Insufficiently evaluated pathogenic unknown Array 4 10726 0.000372925 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - HNF1A Arg583Gly R583G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 5 - - HNF1A Gly92Asp G92D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 2 - - HNF1A Gly319Ser G319S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - HNF1A Gly574Ser G574S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 8 - - HNF1A Pro112Leu P112L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - HNF1A Pro447Leu P447L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - HNF1A Ser531Thr S531T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 5 - - HNF1A Thr620Ile T620I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - HNF1A Tyr122Cys Y122C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 5 - - HNF1B Arg165His R165H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 4 - - HNF1B Arg177Stop R177X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - HNF1B Arg276Stop R276X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - HNF1B Glu101Stop E101X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - HNF1B Ser148Trp S148W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - HNF1B Ser465Arg S465R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 7 - - HNF4A Arg127Trp R127W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - HNF4A Arg154Stop R154X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - HNF4A Gln268Stop Q268X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - HNF4A Met364Arg M364R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 3 - - HNF4A Val393Ile V393I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 10 - - HOXA1 Arg26Stop R26X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - HOXA1 Tyr28Stop Y28X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - HOXA13 Asn51His N51H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - HOXA13 Trp369Stop W369X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - HOXA2 Gln186Lys Q186K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -2 - 4 N - - HOXD10 Met319Lys M319K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 4 Y 4 N 10 - - HOXD13 Arg298Trp R298W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - HOXD13 Gln317Arg Q317R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - HOXD13 Gly220Val G220V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - HOXD13 Ile314Leu I314L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 8 - - HOXD13 Ser308Cys S308C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 5 - - HOXD4 Glu81Val E81V pathogenic Insufficiently evaluated pathogenic unknown Array 2 8826 0.000226603 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.003 - - 5 Y 2 N - - HP Ile247Thr I247T pathogenic Insufficiently evaluated pathogenic unknown Array 3 9798 0.000306184 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 3 - 5 N 10 - - HP Lys54Glu K54E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - HPD Ala33Thr A33T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y - 1 - 5 N 8 - - HPD Ile335Met I335M pathogenic Insufficiently evaluated pathogenic unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.783 Y - -1 - 4 N 1 - - HPD Tyr160Cys Y160C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.873 Y - 6 Y 5 N 3 - - HPD Tyr200Stop Y200X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - HPD Tyr258Stop Y258X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - HPGD Ala140Pro A140P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 2 - 4 N - - HPGD Ser193Pro S193P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.006 - - 3 - 2 N - - HPRT Ala161Ser A161S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N - - HPRT Arg44Lys R44K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -3 - 3 N 2 - - HPRT Arg51Gly R51G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 2 - - HPRT Arg51Stop R51X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 4 - - HPRT Arg170Stop R170X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - HPRT Asp52Gly D52G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 1 - - HPRT Asp80Val D80V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N - - HPRT Asp176Tyr D176Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - HPRT Asp194Glu D194E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -2 - 3 N - - HPRT Asp201Gly D201G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 1 - - HPRT Gln108Stop Q108X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - HPRT Gly16Ser G16S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 5 - - HPRT Gly58Arg G58R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N - - HPRT Gly70Glu G70E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 6 - - HPRT Gly71Arg G71R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 2 - - HPRT Gly140Asp G140D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N - - HPRT His203Asp H203D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N - - HPRT Ile132Met I132M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 1 - - HPRT Leu41Pro L41P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 1 - - HPRT Leu65Phe L65F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 1 - - HPRT Leu78Val L78V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - HPRT Met56Thr M56T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N - - HPRT Met143Lys M143K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N - - HPRT Phe74Leu F74L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 3 - - HPRT Phe199Val F199V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N - - HPRT Pro176Leu P176L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - HPRT Ser104Arg S104R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N - - HPRT Ser110Leu S110L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 1 - - HPRT Thr168Ile T168I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N - - HPRT Tyr153Stop Y153X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - HPRT Val130Asp V130D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 1 - - HPS1 Glu133Stop E133X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - HPS1 Glu666Stop E666X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - HPS3 Arg396Trp R396W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - HPS4 Arg217Stop R217X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - HPS4 Gln181Stop Q181X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - HPS4 Gln631Stop Q631X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - HPS4 Glu138Stop E138X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - HPS4 Glu222Stop E222X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - HR Arg613Stop R613X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 5 - - HR Asp1012Asn D1012N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 - - -1 - 3 N 10 - - HR Gln1176Stop Q1176X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 9 - - HR Val1136Asp V1136D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 - - 8 Y 4 N 10 - - HRAS Ala146Thr A146T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y Y 1 - 4 N 10 - - HRAS Ala146Val A146V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y Y 2 - 6 N 10 - - HRAS Gln22Lys Q22K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -2 - 6 N 10 - - HRAS Gln61Lys Q61K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.746 Y Y -2 - 5 N 10 - - HRAS Glu63Lys E63K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 0 - 6 N 10 - - HRAS Gly12Ala G12A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.328 Y Y 1 - 5 N 10 - - HRAS Gly12Asp G12D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.724 Y Y 4 Y 5 N 10 - - HRAS Gly12Cys G12C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y 7 Y 4 N 10 - - HRAS Gly12Ser G12S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y 2 - 4 N 10 - - HRAS Gly12Val G12V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.032 Y Y 8 Y 4 N 10 - - HRAS Gly13Asp G13D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 4 Y 6 N 10 - - HRAS Gly13Cys G13C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - HRAS Lys117Arg K117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.921 Y Y -3 - 6 N 10 - - HRAS Thr58Ile T58I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - HRG Gly85Glu G85E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - HRPT2 Arg9Stop R9X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - HRPT2 Leu64Pro L64P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - HRPT2 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 4 - - HRPT2 Trp43Stop W43X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - HRPT2 Tyr54Stop Y54X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - HSD11B2 Arg208Cys R208C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 6 - - HSD11B2 Arg208His R208H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.462 Y - 1 - 4 N 10 - - HSD11B2 Arg213Cys R213C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - HSD11B2 Arg279Cys R279C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.9 Y - 8 Y 5 N 10 - - HSD11B2 Arg337Cys R337C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 8 Y 5 N 10 - - HSD11B2 Pro227Leu P227L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 7 Y 5 N 10 - - HSD17B10 Arg130Cys R130C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - HSD17B10 Arg192Arg R192R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -10 - 4 N 4 - - HSD17B10 Asn247Ser N247S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 0 - 5 N 1 - - HSD17B10 Glu249Gln E249Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - -2 - 5 N 6 - - HSD17B10 Leu122Val L122V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - HSD17B3 Ala56Thr A56T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y - 1 - 5 N 10 - - HSD17B3 Ala203Val A203V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.043 Y - 2 - 3 N 4 - - HSD17B3 Arg80Gln R80Q pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - HSD17B3 Arg80Trp R80W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - HSD17B3 Asn130Ser N130S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - HSD17B3 Cys268Tyr C268Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.08 Y - 6 Y 3 N 10 - - HSD17B3 Met235Val M235V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 0 - 5 N 1 - - HSD17B3 Ser232Leu S232L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y - 6 Y 5 N 6 - - HSD17B4 Arg106Pro R106P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.008 Y - 5 Y 3 N 4 - - HSD17B4 Asn457Tyr N457Y pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - HSD17B4 Gly16Ser G16S pathogenic Insufficiently evaluated pathogenic unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 8 - - HSD3B2 Ala10Glu A10E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.913 Y - 3 - 5 N 10 - - HSD3B2 Arg249Stop R249X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - HSD3B2 Glu142Lys E142K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y - 0 - 5 N 8 - - HSD3B2 Pro222Thr P222T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 4 Y 5 N 4 - - HSD3B2 Pro341Leu P341L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 6 - - HSD3B2 Thr259Met T259M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - HSD3B2 Trp171Stop W171X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - HSD3B2 Val248Asn V248N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 3 - - HSD3B7 Glu147Lys E147K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - HSF4 Ala20Asp A20D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - HSF4 Arg120Cys R120C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - HSF4 Ile87Val I87V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - HSF4 Leu115Pro L115P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HSPB1 Arg127Trp R127W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 9 - - HSPB1 Arg136Trp R136W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - HSPB1 Arg140Gly R140G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 5 - - HSPB1 Leu99Met L99M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y Y -3 - 6 N 3 - - HSPB1 Pro182Leu P182L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - HSPB1 Pro182Ser P182S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 3 - 6 N 6 - - HSPB1 Ser135Phe S135F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.716 Y Y 5 Y 5 N 10 - - HSPB1 Thr151Ile T151I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.06 Y Y 3 - 4 N 10 - - HSPB8 Lys141Glu K141E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - HSPD1 Asp29Gly D29G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.552 Y - 4 Y 4 N 10 - - HSPD1 Val72Ile V72I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 10 - - HSPG2 Cys1532Tyr C1532Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 6 - - HTRA1 Ala252Thr A252T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 1 - 5 N 3 - - HTRA1 Arg302Stop R302X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - HTRA1 Arg370Stop R370X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - HTRA1 Val297Met V297M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y - 0 - 5 N 3 - - HTRA2 Ala141Ser A141S benign Low clinical importance, Likely benign undefined Array 175 10408 0.016814 0 0 0 2 2 1 Y - - 4 Y - - - - - - Y Y - - - Y Y -1 - 5 N 10 0 1 Probably benign. One report proposed an association with increased risk for Parkinson's disease, but had very weak statistical significance. A later study found an equal incidence of this variant in cases and controls, contradicting any association with the disease. HTRA2 Gly399Ser G399S benign Low clinical importance, Uncertain benign undefined Array rs72470545 39 10758 0.00362521 1 0 1 3 3 ! Y 1 Y 1 Y 0 Y 0 - 0 - Y Y - - 0.44 Y Y 2 - Parkinson Disease 9 1153 6 1192 1.551 5 N 10 0 0 Although one group reported this variant as being associated with Parkinson’s disease, their screen lacked statistical significance and later studies have found equal frequencies of this variant in unaffected controls. Knockout of this gene is reported to cause parkinsonianism in mice, but another functional study found no impact on the mitochondrial pathway they implicate as being causal in Parkinson’s. HUWE1 Arg2981His R2981H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.822 - - 1 - 3 N - - HUWE1 Arg4013Trp R4013W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - HUWE1 Arg4187Cys R4187C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - HYAL1 Glu268Lys E268K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N - - HYLS1 Asp211Gly D211G pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 10 - - ICAM1 Lys29Met K29M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - ICHTHYIN Ala114Asn A114N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - ICHTHYIN Ala176Asp A176D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - ICHTHYIN Arg83Stop R83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ICK Arg272Gln R272Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - IDH3B Leu98Pro L98P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - IDS Arg172Stop R172X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - IDS Arg443Stop R443X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - IDS Arg468Gln R468Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 10 - - IDS Arg468Leu R468L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 9 - - IDS Arg468Trp R468W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - IDS Cys422Gly C422G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N - - IDS Lys135Arg K135R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y -3 - 6 N 4 - - IDS Pro160Arg P160R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.366 Y Y 5 Y 5 N 1 - - IDS Ser333Leu S333L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.916 Y Y 6 Y 6 N 10 - - IDS Trp475Stop W475X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - IDS Trp502Ser W502S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - IDUA Ala300Thr A300T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.674 Y Y 1 - 5 N 7 - - IDUA Arg89Gln R89Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - IDUA Arg492Pro R492P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.795 Y Y 5 Y 5 N 7 - - IDUA Arg619Gly R619G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 7 - - IDUA Arg621Stop R621X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - IDUA Gln70Stop Q70X pathogenic High clinical importance, pathogenic recessive Array 7 10726 0.000652619 0 0 0 1 1 3 Y - - 5 Y - - 5 - 1 - Y Y - - - Y Y 10 Y 6 N 10 2 2 Causes Hurler syndrome in a recessive manner, a severe disease causing dwarfism, physical, and mental deterioration, and typically lethal by age 10. IDUA Gln310Stop Q310X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - IDUA Leu346Arg L346R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 6 Y 6 N 7 - - IDUA Leu490Pro L490P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - IDUA Pro533Arg P533R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - IDUA Thr364Met T364M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 6 - - IDUA Thr366Pro T366P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 4 Y 6 N 3 - - IDUA Trp402Stop W402X pathogenic Insufficiently evaluated pathogenic unknown Array 3 5746 0.000522102 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - IDUA Tyr64Stop Y64X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - IFNAR2 Ser8Phe S8F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - IFNGR1 Cys77Tyr C77Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 4 - - IFNGR1 Ile87Thr I87T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - IFNGR1 Val61Gln V61Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 4 - - IFNGR2 Thr168Asn T168N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.284 Y - 1 - 4 N 10 - - IFT80 Ala701Pro A701P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 2 - 4 N - - IFT80 His105Gln H105Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - -1 - 4 N - - IGF1 Val44Met V44M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - IGF1R Arg59Stop R59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - IGF1R Arg108Gln R108Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - IGF1R Arg481Gln R481Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - IGF1R Arg709Gln R709Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - IGF1R Lys115Asn K115N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - IGF2R Gly1449Val G1449V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.973 - - 8 Y 4 N - - IGF2R Gly1464Glu G1464E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.028 - - 6 Y 2 N - - IGFALS Cys540Arg C540R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - IGHM Cys536Gly C536G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - IGHMBP2 Gln41Stop Q41X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - IGHMBP2 Glu514Lys E514K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - IGHMBP2 His213Arg H213R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - IGHMBP2 Leu236Stop L236X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - IGHMBP2 Phe369Leu F369L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 4 - - IGHMBP2 Val580Ile V580I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 6 - - IGLL1 Gln22Stop Q22X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - IGLL1 Pro142Leu P142L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.985 - - 7 Y 4 N - - IHH Asp100Asn D100N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 - - -1 - 4 N 9 - - IHH Asp100Glu D100E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.144 - - -2 - 2 N 10 - - IHH Glu95Gly E95G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 6 Y 4 N 8 - - IHH Glu95Lys E95K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 0 - 4 N 10 - - IHH Glu131Lys E131K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 - - 0 - 4 N 10 - - IHH Pro46Leu P46L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 7 Y 4 N 10 - - IHH Thr154Ile T154I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - - 3 - 4 N 5 - - IHH Val190Ala V190A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.916 - - 2 - 4 N 9 - - IKBKAP Arg696Pro R696P pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - Familial Dysautonomia IKBKAP Pro914Leu P914L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - IKBKG Ala288Gly A288G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.654 Y Y 1 - 5 N 4 - - IKBKG Arg319Gln R319Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 2 - - IKBKG Asp406Val D406V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 3 - - IKBKG Cys417Arg C417R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - IKBKG Cys417Phe C417F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 4 - - IKBKG Gln403Stop Q403X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - IKBKG Glu315Ala E315A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 3 - - IKBKG Glu391Stop E391X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - IKBKG Lys153Arg K153R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N - - IKBKG Met407Val M407V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.673 Y Y 0 - 5 N 1 - - IKBKG Pro62Stop P62X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - IL10RB Glu47Lys E47K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - IL12RB1 Arg213Trp R213W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - IL12RB1 Cys198Arg C198R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - IL12RB1 Gln32Stop Q32X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - IL12RB1 Gln376Stop Q376X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - IL13 Arg130Gln R130Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - IL1RAPL1 Trp487Stop W487X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - IL1RAPL1 Tyr459Stop Y459X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - IL1RN Gln54Stop Q54X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - IL1RN Glu77Stop E77X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - IL2RG Arg222Cys R222C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - IL2RG Arg267Stop R267X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - IL2RG Arg285Gln R285Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 5 - - IL2RG Cys62Stop C62X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - IL2RG Cys115Arg C115R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 1 - - IL2RG Gly114Asp G114D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 1 - - IL2RG Ile153Asn I153N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 7 Y 6 N 2 - - IL2RG Leu151Pro L151P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 1 - - IL2RG Leu271Gln L271Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - IL2RG Lys97Stop K97X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - IL2RG Ser286Stop S286X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - IL4R Ile50Val I50V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - IL7R Ile138Val I138V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 4 - - IL7R Pro132Ser P132S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - IL7R Thr66Ile T66I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - IL7R Trp217Stop W217X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - IMPDH1 Arg105Trp R105W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - IMPDH1 Arg224Pro R224P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - IMPDH1 Asn198Lys N198K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - IMPDH1 Asp226Asn D226N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - IMPDH1 Val268Ile V268I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 7 - - IMPDH2 Leu263Phe L263F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.881 - - 0 - 4 N - - ING1 Ala192Asp A192D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - ING1 Asn216Ser N216S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ING1 Cys215Ser C215S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - INPP5E Arg378Cys R378C pathogenic Insufficiently evaluated pathogenic unknown Array 3 10732 0.000279537 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N - - INPP5E Arg435Gln R435Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - INPP5E Arg515Trp R515W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - INPP5E Arg563His R563H pathogenic Insufficiently evaluated pathogenic unknown Array 4 10620 0.000376647 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N - - INPP5E Gln627Stop Q627X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - INS Arg65His R65H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - INS Arg65Leu R65L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - INS Arg65Pro R65P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - INS His10Asp H10D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - INS Phe24Ser F24S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - INS Phe25Leu F25L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - INS Val3Leu V3L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - INSL3 Arg102Cys R102C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.987 - - 8 Y 4 N - - INSL3 Arg102His R102H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.953 - - 1 - 4 N - - INSL3 Asn86Lys N86K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - INSL3 Pro93Leu P93L pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.98 - - 7 Y 4 N - - INSR Ala1134Thr A1134T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - INSR Ala1135Glu A1135E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - INSR Arg86Pro R86P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 6 - - INSR Arg372Stop R372X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - INSR Arg735Ser R735S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - INSR Arg981Gln R981Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - INSR Arg988Stop R988X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - INSR Arg1000Stop R1000X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - INSR Arg1152Gln R1152Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - INSR Arg1174Gln R1174Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - INSR Asn15Lys N15K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - INSR Asn431Asp N431D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - INSR Asn462Ser N462S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - INSR Glu672Stop E672X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - INSR Gly31Arg G31R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - INSR Gly366Arg G366R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - INSR Gly996Val G996V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - INSR His209Arg H209R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - INSR Ile119Met I119M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 2 - - INSR Leu233Pro L233P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.038 Y - 7 Y 3 N 2 - - INSR Lys121Stop K121X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - INSR Lys460Glu K460E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.962 Y - 0 - 5 N 4 - - INSR Met1153Ile M1153I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - INSR Phe382Val F382V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 6 - - INSR Trp133Stop W133X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - INSR Trp412Ser W412S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - INSR Trp1200Ser W1200S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - INSR Val28Ala V28A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - INSR Val985Met V985M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - INVS Arg603Stop R603X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - INVS Leu493Ser L493S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 6 Y 5 N 3 - - IPF1 Arg197His R197H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 9 - - IPF1 Asp76Asn D76N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 10 - - IPF1 Cys18Arg C18R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - IPF1 Gln59Leu Q59L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - IPF1 Glu164Asp E164D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -2 - 3 N 4 - - IPF1 Glu178Lys E178K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 3 - - IPF1 Glu224Lys E224K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 10 - - IQCB1 Arg461Stop R461X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 5 - - IQCB1 Gln357Stop Q357X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - IRAK3 Trp76Stop W76X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - IRAK4 Gln293Stop Q293X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - IRF1 Met8Leu M8L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.984 - - -3 - 4 N - - IRF1 Trp11Arg W11R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - IRF6 Ala2Val A2V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.343 Y Y 2 - 5 N 7 - - IRF6 Arg6Cys R6C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 8 - - IRF6 Arg45Gln R45Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - IRF6 Arg84Cys R84C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - IRF6 Arg84His R84H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 7 - - IRF6 Arg400Trp R400W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - IRF6 Gln393Stop Q393X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - IRF6 Glu92Stop E92X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - IRF6 Pro396Ser P396S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - IRF6 Trp397Stop W397X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - IRS1 Gly972Arg G972R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - IRS1 Thr608Arg T608R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.068 - - 3 - 2 N - - IRS2 Leu647Val L647V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.778 - - 0 - 3 N - - ITGA2B Arg327His R327H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - ITGA2B Arg584Stop R584X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ITGA2B Glu324Lys E324K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - ITGA2B Gly273Asp G273D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - ITGA2B Gly418Asp G418D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - ITGA2B Ile565Thr I565T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - ITGA2B Ile843Ser I843S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 4 - - ITGA2B Leu214Pro L214P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - ITGAM Arg77His R77H pathogenic Insufficiently evaluated pathogenic unknown Array rs1143679 1085 10304 0.105299 11 0 11 1 1 - - - - - - - - - - - - - Y - Y 0.048 - - 1 - 2 N - - ITGB2 Arg586Trp R586W benign Low clinical importance, Likely benign undefined Array 53 10756 0.00492748 0 0 0 0 0 - - - - 5 Y 0 - - - - - Y Y - - 0.976 Y - 7 Y 5 N 7 0 1 Reported to cause leukocyte adhesion deficiency in a recessive fashion, as reported to ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000010071/). This report comes from Nelson et al 1992 (PMID: 1346613), where a case study found this variant in a patient. However, it coupled with a more severe variant on the same chromosome (an in-frame 12 base insertion), and biochemical assay indicated the effect of this variant was minor. Thus, it is highly likely that this variant was coincidentally observed, and its relatively high allele frequency in ExAC data (0.8%) also strongly contradicts a serious effect. As such, this reported effect should be considered disproven, or potentially misreported by OMIM to ClinVar. ITGB2 Arg593Cys R593C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - ITGB2 Asn351Ser N351S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 0 - 5 N 5 - - ITGB2 Asp128Asn D128N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - -1 - 5 N 2 - - ITGB2 Gly169Arg G169R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 3 - - ITGB2 Gly273Arg G273R pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 1 2 Y 2 Y 0 Y - - 4 Y 3 Y Y Y - - 1.0 Y - 6 Y 5 N 4 2 0 Reported to cause leukocyte adhesion deficiency in a recessive manner. Only one case reported. This variant appears to be too rare to establish statistical significance for this association, but the variant gene fails to produce product when studied in vitro. ITGB2 Gly284Ser G284S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 10 - - ITGB2 Leu149Pro L149P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 7 Y 5 N 3 - - ITGB2 Lys196Thr K196T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - ITGB2 Pro178Leu P178L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - ITGB2 Ser138Pro S138P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 3 - 5 N 6 - - ITGB3 Arg143Gln R143Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - ITGB3 Arg214Gln R214Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - ITGB3 Arg214Trp R214W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 3 - - ITGB3 Arg489Gln R489Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - ITGB3 Arg724Stop R724X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ITGB3 Asp119Tyr D119Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - ITGB3 Cys374Tyr C374Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - ITGB3 Glu616Stop E616X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ITGB3 Leu33Pro L33P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 0 - - - - - - - - - - - - Y Y - Y - Y - 7 Y 4 N 10 - - ITGB3 Leu117Trp L117W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 1 - - ITGB3 Pro407Ala P407A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.344 Y - 2 - 4 N 5 - - ITGB3 Ser752Pro S752P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - ITGB4 Arg554Stop R554X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ITGB4 Arg1225His R1225H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - ITGB4 Arg1281Trp R1281W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - ITGB4 Cys38Arg C38R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 5 - - ITGB4 Cys61Tyr C61Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - ITGB4 Cys562Arg C562R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 8 - - ITGB4 Gly931Asp G931D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 4 Y 6 N 10 - - ITGB4 Leu156Pro L156P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - ITGB4 Trp1478Stop W1478X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ITK Arg335Trp R335W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - ITPR1 Pro1059Leu P1059L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.569 - Y 7 Y 4 N 1 - - IVD Ala282Val A282V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - IVD Arg21Cys R21C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - IVD Gly170Val G170V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N - - IVD Leu13Pro L13P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - IYD Ala220Tyr A220Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - IYD Arg101Trp R101W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N - - IYD Ile116Thr I116T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 3 - 5 N - - JAG1 Arg184Cys R184C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N - - JAG1 Arg184His R184H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - JAG1 Cys234Tyr C234Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - JAG1 Gly274Asp G274D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - JAG1 Leu37Ser L37S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.791 Y Y 6 Y 5 N 10 - - JAK2 Lys539Leu K539L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - JAK2 Lys607Asn K607N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 - - 1 - 4 Y 7 - - JAK2 Val617Phe V617F pathogenic High clinical importance, pathogenic dominant Array rs77375493 3 10756 0.000278914 1 0 1 12 11 1 Y 4 Y 5 Y 0 Y 4 Y 4 Y Y Y - - 0.997 - - 3 - 4 N 10 2 2 This well known variant is associated with myeloproliferative diseases: it is used as a diagnostic, providing supporting evidence in individuals who already have symptoms. It is seen as an acquired (not inherited) mutation, one of an accumulation of changes that leads to the development of these cancer-like diseases. It is possible to see this variant in whole genome data or genotyping from blood-derived DNA -- but it is unclear how to view the presence of the variant in individuals who don't have symptoms of the disease. Data from Nielsen et al. suggests that such carriers are at much higher risk of developing myeloproliferative disease or other blood cancer (with roughly 50% of still-living individuals developing these diseases by around 10 years after initial samples -- but these numbers are _extremely_ uncertain). JAK3 Arg445Stop R445X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - JAK3 Asp169Glu D169E pathogenic Insufficiently evaluated pathogenic unknown Array 1 10726 9.3231e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - -2 - 5 N 10 - - JAK3 Cys565Stop C565X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - JAK3 Tyr100Cys Y100C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - JARID1C Ala77Thr A77T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 7 - - JARID1C Ala388Pro A388P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 4 - - JARID1C Arg694Stop R694X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - JARID1C Arg766Trp R766W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 3 - - JARID1C Leu731Phe L731F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 3 - - JARID1C Ser451Arg S451R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - JK Ser291Pro S291P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - KAL1 Arg257Stop R257X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - KAL1 Arg262Stop R262X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - KAL1 Glu514Lys E514K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.807 Y Y 0 - 5 N 10 - - KAL1 Ser396Leu S396L pathogenic Insufficiently evaluated pathogenic unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 Y Y 6 Y 4 N 5 - - KAL1 Trp237Stop W237X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - KAL1 Trp258Stop W258X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - KCNA1 Ala242Pro A242P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - KCNA1 Arg239Ser R239S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - KCNA1 Arg417Stop R417X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - KCNA1 Asn255Asp N255D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - KCNA1 Glu325Asp E325D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 10 - - KCNA1 Ile176Arg I176R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - KCNA1 Phe184Cys F184C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - KCNA1 Phe249Ile F249I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - KCNA1 Pro244His P244H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - KCNA1 Thr226Ala T226A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 8 - - KCNA1 Thr226Arg T226R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - KCNA1 Thr226Lys T226K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - KCNA1 Val174Phe V174F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 6 - - KCNA1 Val404Ile V404I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 10 - - KCNA1 Val408Ala V408A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - KCNA5 Ala576Val A576V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - KCNA5 Glu375Stop E375X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KCNA5 Glu610Lys E610K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.98 - - 0 - 4 N - - KCNA5 Thr527Met T527M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.311 - - 2 - 3 N - - KCNC3 Arg420His R420H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - KCNC3 Phe448Leu F448L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - KCNE1 Asp76Asn D76N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.752 Y Y -1 - 5 N 10 - - KCNE1 Asp85Asn D85N pathogenic High clinical importance, Uncertain pathogenic unknown Array 94 10758 0.00873768 0 0 0 2 2 ! Y - - 0 Y - - 3 Y 4 Y Y Y - Y 0.066 Y Y -1 - 4 N 10 2 0 Proposed to cause drug-induced long QT syndrome by one group. Another group suggests an association with noise-induced hearing loss. Neither study found a statistical significant association for this variant after multiple hypotheses are corrected for. KCNE1 Ser74Leu S74L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - KCNE1 Thr7Ile T7I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - Y 0.997 Y Y 3 - 6 N 10 - - KCNE2 Arg27Cys R27C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 8 Y 6 N 10 - - KCNE2 Ile57Thr I57T pathogenic High clinical importance, Uncertain pathogenic dominant Array 4 10758 0.000371816 0 0 0 3 3 1 Y 2 Y 0 Y - - 4 - 3 - Y Y - - 0.574 Y Y 3 - 5 N 10 2 0 Reported to cause Long QT syndrome, which can cause palpitations, fainting, and sudden death. Only a few patients have been reported carrying this variant; insufficient data has been reported to establish a statistically significant association of this variant with the disease. KCNE2 Met54Thr M54T pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.957 Y Y 2 - 6 N 10 - - KCNE2 Phe60Leu F60L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.925 Y Y 0 - 6 N 3 - - KCNE3 Arg83His R83H pathogenic Insufficiently evaluated pathogenic unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.953 Y - 1 - 5 N 10 - - KCNE3 Arg99His R99H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.953 Y - 1 - 5 N 10 - - KCNH2 Ala490Thr A490T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 1 - 6 N 10 - - KCNH2 Ala558Pro A558P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 2 - 6 N 10 - - KCNH2 Ala561Val A561V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - 5 Y - - - - - - - - Y Y - - 0.985 Y Y 2 - 6 N 10 - - Variation in the potassium channel KCNH2 (aka HERG) is associated with long QT syndrome, an inherited cardiac arrhythmia. This mutation results in substitution of valine for a highly conserved alanine at codon 561 (A561V), altering the fifth membrane-spanning domain (S5) of the KCNH2 protein (http://www.ncbi.nlm.nih.gov/pubmed/7889573). Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncopes, seizure, or sudden death (http://www.ncbi.nlm.nih.gov/pubmed/10220144). This pathogenic variant is one of the known pathogenic alleles that the ACMG recommends reporting to patients as an incidental finding. http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf KCNH2 Arg100Gly R100G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 3 - - KCNH2 Arg582Cys R582C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 8 Y 6 N 10 - - KCNH2 Arg752Gln R752Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 5 - - KCNH2 Arg784Trp R784W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNH2 Arg913Val R913V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - KCNH2 Arg948Cys R948C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.444 Y Y 8 Y 5 N 3 - - KCNH2 Asn470Asp N470D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -1 - 6 N 10 - - KCNH2 Asn588Lys N588K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.725 Y Y 1 - 5 N 10 - - KCNH2 Asn861Ile N861I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - KCNH2 Gly572Arg G572R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - KCNH2 Gly628Ser G628S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 2 - 6 N 10 - - KCNH2 Ile593Arg I593R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 10 - - KCNH2 Ser818Leu S818L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 6 Y 6 N 10 - - KCNH2 Thr65Pro T65P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 4 Y 6 N 10 - - KCNH2 Trp1001Stop W1001X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - KCNH2 Val822Met V822M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 0 - 6 N 10 - - KCNJ1 Ala195Val A195V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - KCNJ1 Ala198Thr A198T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.427 Y - 1 - 4 N 8 - - KCNJ1 Asp108His D108H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 9 - - KCNJ1 Gly167Glu G167E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 6 Y 5 N 5 - - KCNJ1 Lys124Asn K124N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - KCNJ1 Met338Thr M338T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - KCNJ1 Ser200Arg S200R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - KCNJ1 Trp58Stop W58X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - KCNJ1 Tyr60Stop Y60X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - KCNJ10 Ala167Val A167V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.988 - - 2 - 4 N - - KCNJ10 Arg65Pro R65P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - KCNJ10 Arg194His R194H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - KCNJ10 Arg199Stop R199X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KCNJ10 Arg297Cys R297C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - KCNJ10 Arg348Cys R348C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.919 - - 8 Y 4 N - - KCNJ10 Cys140Arg C140R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - KCNJ10 Gly77Arg G77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.721 - - 6 Y 3 N - - KCNJ10 Thr164Ile T164I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 3 - 4 N - - KCNJ11 Arg50Pro R50P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - KCNJ11 Arg201Cys R201C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - KCNJ11 Arg201His R201H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - KCNJ11 Arg301His R301H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - KCNJ11 Cys42Arg C42R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - KCNJ11 Cys166Phe C166F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - KCNJ11 Glu23Lys E23K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y - Y Y 0 - 5 N 10 - - KCNJ11 Gly53Arg G53R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - KCNJ11 Gly53Asp G53D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - KCNJ11 Gly53Ser G53S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - KCNJ11 Gly156Arg G156R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - KCNJ11 His259Arg H259R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - KCNJ11 Ile167Leu I167L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - KCNJ11 Leu147Pro L147P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - KCNJ11 Lys170Arg K170R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 10 - - KCNJ11 Lys170Asn K170N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - KCNJ11 Pro254Leu P254L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - KCNJ11 Tyr12Stop Y12X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - KCNJ11 Val59Gly V59G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - KCNJ11 Val59Met V59M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - KCNJ13 Arg162Trp R162W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - KCNJ2 Arg67Trp R67W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNJ2 Arg218Trp R218W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNJ2 Asn216His N216H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - KCNJ2 Asp71Val D71V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 8 Y 6 N 10 - - KCNJ2 Asp172Asn D172N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y -1 - 6 N 10 - - KCNJ2 Gly300Val G300V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - KCNJ2 Pro186Leu P186L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - KCNJ2 Thr75Arg T75R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 10 - - KCNJ2 Val302Met V302M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 0 - 6 N 10 - - KCNK9 Gly236Arg G236R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.287 - - 6 Y 3 N - - KCNMA1 Asp434Gly D434G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - KCNMB1 Glu65Lys E65K not reviewed Insufficiently evaluated not reviewed unknown Array rs11739136 940 10758 0.0873768 13 0 13 0 0 1 Y - - - - - - - - - - - Y - - - - - 0 - 2 N - - KCNQ1 Ala178Pro A178P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 2 - 6 N 9 - - KCNQ1 Ala300Thr A300T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 1 - 6 N 10 - - KCNQ1 Ala341Glu A341E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 3 - 6 N 10 - - KCNQ1 Ala341Val A341V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y Y 2 - 6 N 10 - - KCNQ1 Ala525Thr A525T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 1 - 6 N 10 - - KCNQ1 Arg190Gln R190Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - KCNQ1 Arg243Pro R243P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 2 - - KCNQ1 Arg518Stop R518X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - KCNQ1 Arg555Cys R555C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - KCNQ1 Arg583Cys R583C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 8 Y 6 N 10 - - KCNQ1 Gly189Arg G189R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - KCNQ1 Gly269Asp G269D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 10 - - KCNQ1 Gly269Ser G269S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 10 - - KCNQ1 Gly306Arg G306R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - KCNQ1 Gly314Ser G314S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 10 - - KCNQ1 Gly345Glu G345E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - KCNQ1 Gly589Asp G589D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 10 - - KCNQ1 Leu273Phe L273F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - KCNQ1 Pro117Leu P117L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - KCNQ1 Ser140Gly S140G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 2 - 6 N 10 - - KCNQ1 Ser1570Leu S1570L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - KCNQ1 Thr312Ile T312I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - ! Y - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - KCNQ1 Thr587Met T587M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.739 Y Y 2 - 5 N 10 - - KCNQ1 Trp305Ser W305S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNQ1 Val254Met V254M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 0 - 6 N 10 - - KCNQ1 Val307Leu V307L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.74 Y Y 0 - 5 N 10 - - KCNQ2 Ala306Thr A306T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.054 Y Y 1 - 4 N 10 - - KCNQ2 Arg207Gln R207Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - KCNQ2 Arg207Trp R207W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNQ2 Arg214Trp R214W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNQ2 Lys526Asn K526N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - KCNQ2 Ser247Trp S247W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - KCNQ2 Tyr284Cys Y284C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 6 Y 4 N 10 - - KCNQ3 Gly263Val G263V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 5 - - KCNQ4 Gly285Cys G285C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 6 - - KCNQ4 Gly285Ser G285S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - KCNQ4 Gly296Ser G296S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 2 - 6 N 10 - - KCNQ4 Gly321Ser G321S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.146 Y Y 2 - 4 N 10 - - KCNQ4 Leu274His L274H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - KCNQ4 Leu281Ser L281S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y Y 6 Y 5 N 8 - - KCNQ4 Trp276Ser W276S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - KCNV2 Glu143Stop E143X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KCNV2 Glu306Stop E306X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KCNV2 Gly459Asp G459D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.992 - - 4 Y 4 N - - KCNV2 Ser256Trp S256W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - KCR1 Ile447Val I447V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - KCTD7 Arg99Stop R99X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KDR Cys482Arg C482R pathogenic Low clinical importance, Uncertain pathogenic other Array rs34231037 225 10758 0.0209147 2 0 2 1 1 1 Y - - 0 Y - - 1 - 4 - - Y - - 0.999 - - 8 Y 4 N 0 0 Hypothesized to cause a higher risk of benign neonatal hemangiomas (which are seen in 10% of children). However, observations lacked statistical significance. KDR Pro1147Ser P1147S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 3 - 4 N - - KERA Arg313Stop R313X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KERA Asn247Ser N247S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - KERA Gln174Stop Q174X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KERA Thr215Lys T215K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.911 - - 3 - 4 N - - KHK Ala43Thr A43T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 1 - 4 N - - KHK Gly40Arg G40R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - KIAA0196 Asn471Asp N471D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.551 Y Y -1 - 5 N 10 - - KIAA0196 Leu619Phe L619F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 0 - 6 N 10 - - KIAA0196 Val626Phe V626F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 10 - - KIAA1279 Arg90Stop R90X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KIAA1279 Glu84Stop E84X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KIF1B Gln98Leu Q98L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - KIF1B Glu656Val E656V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N - - KIF1B Pro1217Ser P1217S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - KIF1B Ser1481Asn S1481N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - KIF1B Thr827Ile T827I pathogenic Insufficiently evaluated pathogenic unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - KIF21A Arg954Gln R954Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 0 - 6 N 10 - - KIF21A Arg954Trp R954W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - KIF21A Ile1010Thr I1010T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.812 Y Y 3 - 5 N 8 - - KIF21A Met356Thr M356T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 2 - 6 N 10 - - KIF21A Met947Arg M947R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 4 Y 6 N 10 - - KIF21A Met947Val M947V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y Y 0 - 6 N 10 - - KIF5A Ala361Val A361V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 9 - - KIF5A Arg280Cys R280C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - KIF5A Asn256Ser N256S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - KIF5A Tyr276Cys Y276C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N - - KIRREL3 Arg40Trp R40W pathogenic Insufficiently evaluated pathogenic unknown Array 2 9912 0.000201775 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.971 - - 7 Y 4 N - - KIRREL3 Arg336Gln R336Q pathogenic Insufficiently evaluated pathogenic unknown Array 13 10266 0.00126631 1 0 1 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - KIRREL3 Val731Phe V731F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.063 - - 3 - 2 N - - KISS1R Arg331Stop R331X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - KISS1R Arg386Pro R386P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.863 Y Y 5 Y 6 N - - KISS1R Leu102Pro L102P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y Y 7 Y 5 N 10 - - KISS1R Leu148Ser L148S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.92 Y Y 6 Y 6 N 10 - - KIT Arg796Gly R796G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - KIT Asp816His D816H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.122 Y - 3 - 3 N 10 - - KIT Asp816Tyr D816Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.99 Y - 7 Y 5 N 10 - - KIT Asp816Val D816V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 8 Y 5 Y - - KIT Asp820Gly D820G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 10 - - KIT Glu583Lys E583K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 8 - - KIT Glu839Lys E839K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - KIT Gly664Arg G664R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y - 6 Y 5 N 5 - - KIT Lys642Glu K642E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - KIT Phe584Cys F584C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 3 - - KIT Phe584Leu F584L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 1 - - KIT Thr847Pro T847P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.839 Y - 4 Y 4 N - - KIT Val559Ala V559A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 10 - - KIT Val559Asp V559D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - KITLG Asn36Ser N36S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.114 - - 0 - 2 N - - KL His193Arg H193R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - KLF1 His299Tyr H299Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - -1 - 4 N - - KLF1 Lys292Stop K292X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KLF11 Ala349Ser A349S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - KLF11 Thr220Met T220M pathogenic High clinical importance, Likely pathogenic dominant Array rs34336420 165 10758 0.0153374 1 0 1 2 2 1 Y 1 Y 4 Y ! Y 4 Y 4 Y - Y - - 0.858 - - 2 - 4 N 2 1 Reported by Neve et al. to be a dominant cause of early-onset monogenic type II diabetes mellitus (maturity onset diabetes of the young). If true, carriers would be predicted to have a family history of diabetes. Florez et al. contradicted other findings in this gene made by Neve et al. for the Q62R polymorphism, and were unable to find any carriers of this rare variant (thus unable to investigate). KLF6 Ala123Asp A123D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 5 Y 2 N - - KLF6 Leu169Pro L169P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.803 - - 7 Y 3 N - - KLF6 Ser116Pro S116P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.047 - - 3 - 2 N - - KLF6 Ser137Stop S137X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KLF6 Ser155Arg S155R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.215 - - 3 - 3 N - - KLF6 Trp64Arg W64R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 7 Y 4 N - - KLHL7 Arg153Thr R153T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - KLHL7 Arg153Val R153V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - KLHL7 Ser150Asn S150N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.568 Y - 0 - 4 N 10 - - KLK4 Trp153Stop W153X pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KLKB1 Arg94Stop R94X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KLKB1 Asn124Ser N124S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - KLKB1 Cys529Tyr C529Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - KLKB1 Gly104Arg G104R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - KLKB1 Trp383Stop W383X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KLKR Arg53His R53H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - KNG1 Arg196Stop R196X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - KRAS Ala59Thr A59T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 1 - 4 N 10 - - KRAS Asp153Val D153V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - KRAS Gly12Arg G12R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.057 Y Y 6 Y 4 N 10 - - KRAS Gly12Asp G12D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.657 Y Y 4 Y 5 N 10 - - KRAS Gly12Cys G12C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 7 Y 4 N 10 - - KRAS Gly12Ser G12S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.394 Y Y 2 - 5 N 10 - - KRAS Gly12Val G12V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.91 Y Y 8 Y 6 N 10 - - KRAS Gly13Arg G13R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 6 Y 6 N 10 - - KRAS Gly13Asp G13D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 4 Y 6 N 10 - - KRAS Gly60Arg G60R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - KRAS Gly60Ser G60S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 7 - - KRAS Lys5Asn K5N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 1 - 6 N 10 - - KRAS Lys5Glu K5E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 0 - 6 N 10 - - KRAS Phe156Leu F156L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - KRAS Pro34Arg P34R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - KRAS Thr58Ile T58I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - KRAS Val14Ile V14I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y -4 - 6 N 10 - - KRAS Val152Gly V152G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - KRIT1 Asp137Gly D137G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 4 Y 6 N 10 - - KRIT1 Gln201Glu Q201E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.021 Y Y -2 - 4 N 4 - - KRT1 Asn187Lys N187K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - KRT1 Glu310Gln E310Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 2 - - KRT1 Ile479Phe I479F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - KRT1 Ile479Thr I479T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 5 - - KRT1 Leu160Pro L160P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - KRT1 Leu475Pro L475P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - KRT1 Lys73Ile K73I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - KRT1 Tyr481Cys Y481C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - KRT1 Val155Asp V155D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - KRT10 Arg10Cys R10C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - KRT10 Arg10His R10H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 5 - - KRT10 Arg10Leu R10L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - KRT10 Arg83Glu R83E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - KRT10 Arg156Cys R156C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - KRT10 Arg156His R156H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 1 - 5 N 10 - - KRT10 Asn8His N8H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - KRT10 Leu15Ser L15S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - KRT10 Leu103Gln L103Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - KRT10 Lys439Glu K439E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N - - KRT10 Met150Arg M150R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N - - KRT10 Met150Thr M150T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 7 - - KRT10 Tyr14Asp Y14D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - KRT12 Arg135Gly R135G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - KRT12 Arg135Ile R135I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - KRT12 Arg135Thr R135T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 3 - 4 N - - KRT12 Leu140Arg L140R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.992 - - 6 Y 4 N - - KRT12 Met129Thr M129T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - KRT12 Tyr429Asp Y429D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - KRT12 Val143Leu V143L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 0 - 4 N - - KRT13 Leu15Pro L15P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - KRT14 Arg125Cys R125C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - KRT14 Arg125His R125H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.438 Y Y 1 - 5 N 10 - - KRT14 Asn123Ser N123S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 5 - - KRT14 Cys18Stop C18X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - KRT14 Glu144Ala E144A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.871 Y Y 3 - 6 N 5 - - KRT14 Glu422Lys E422K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y Y 0 - 6 N 7 - - KRT14 Leu384Pro L384P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 4 - - KRT14 Leu419Gln L419Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 9 - - KRT14 Met119Ile M119I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 5 - - KRT14 Met119Thr M119T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - KRT14 Met272Arg M272R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y 4 Y 6 N 5 - - KRT14 Tyr204Stop Y204X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - KRT14 Tyr415His Y415H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - KRT16 Arg125Cys R125C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - KRT16 Arg127Pro R127P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 4 - - KRT16 Asn123Ser N123S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.314 Y Y 0 - 5 N 1 - - KRT16 Gln122Pro Q122P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 2 - - KRT16 Leu124Arg L124R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 2 - - KRT16 Leu128Gln L128Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 1 - - KRT16 Leu130Pro L130P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 2 - - KRT16 Lys354Asn K354N pathogenic Insufficiently evaluated pathogenic unknown Array 10 10752 0.000930059 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 3 - - KRT16 Met121Thr M121T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 1 - - KRT17 Arg94Cys R94C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 5 - - KRT17 Arg94His R94H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y Y 1 - 6 N 2 - - KRT17 Arg94Pro R94P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 5 Y 6 N 3 - - KRT17 Asn92Asp N92D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N - - KRT17 Asn92His N92H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.833 Y Y 0 - 5 N - - KRT17 Asn92Ser N92S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 0 - 6 N 9 - - KRT17 Leu95Gln L95Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.796 Y Y 5 Y 5 N 1 - - KRT17 Leu95Pro L95P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 1 - - KRT17 Met88Thr M88T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N - - KRT17 Tyr98Asp Y98D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N - - KRT17 Val102Met V102M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 1 - - KRT18 His127Leu H127L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - KRT2 Asn192Asp N192D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - KRT2 Asn192Lys N192K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 1 - - KRT2 Asn192Tyr N192Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 3 - - KRT2 Gln187Pro Q187P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - KRT2 Glu482Lys E482K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - KRT2 Glu493Asp E493D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 1 - - KRT2 Glu493Lys E493K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 4 - - KRT2 Thr485Pro T485P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 3 - - KRT3 Glu509Lys E509K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.641 - - 0 - 3 N - - KRT4 Glu449Lys E449K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 6 - - KRT5 Asn193Lys N193K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 2 - - KRT5 Asn329Lys N329K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 3 - - KRT5 Glu170Lys E170K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 9 - - KRT5 Glu418Lys E418K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.487 Y Y 0 - 5 N 4 - - KRT5 Glu475Gly E475G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.224 Y Y 6 Y 5 N 6 - - KRT5 Glu477Stop E477X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - KRT5 Ile161Ser I161S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.891 Y Y 5 Y 6 N 10 - - KRT5 Leu174Phe L174F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - KRT5 Leu462Pro L462P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - KRT5 Lys173Asn K173N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 1 - 6 N 8 - - KRT5 Lys472Stop K472X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - KRT5 Met327Thr M327T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 2 - - KRT5 Pro25Leu P25L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - KRT5 Ser5Stop S5X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - KRT5 Ser181Pro S181P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 3 - 6 N 4 - - KRT5 Val7Ala V7A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - KRT5 Val186Leu V186L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y 0 - 6 N 10 - - KRT6A Glu472Lys E472K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 1 - - KRT6A Leu469Arg L469R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 1 - - KRT6A Phe174Val F174V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 2 - - KRT6B Glu472Lys E472K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 1 - - KRT75 Ala12Thr A12T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - KRT8 Gly61Cys G61C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.928 - - 7 Y 4 N - - KRT8 Tyr53His Y53H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - KRT81 Glu402Lys E402K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 0 - 5 N 2 - - KRT81 Glu413Lys E413K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.536 Y - 0 - 4 N 2 - - KRT82 Glu407Lys E407K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - KRT86 Ala118Glu A118E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 4 - - KRT86 Asn114Asp N114D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 1 - - KRT86 Glu402Gln E402Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - -2 - 5 N 1 - - KRT86 Glu402Lys E402K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 6 - - KRT86 Glu413Asp E413D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.93 Y - -2 - 5 N 1 - - KRT86 Glu413Lys E413K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.837 Y - 0 - 4 N 4 - - KRT9 Arg163Gln R163Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 5 - - KRT9 Arg163Trp R163W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - KRT9 Asn161Ile N161I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N - - KRT9 Asn161Lys N161K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 1 - - KRT9 Asn161Ser N161S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - KRT9 Asn161Tyr N161Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 1 - - KRT9 Gln172Pro Q172P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y - 4 Y 5 N 1 - - KRT9 Leu160Phe L160F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 2 - - KRT9 Leu160Val L160V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 2 - - KRT9 Leu168Ser L168S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 6 Y 5 N 2 - - KRT9 Met157Thr M157T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - KRT9 Met157Val M157V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 1 - - KRT9 Val171Met V171M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 1 - - KTU Ser8Stop S8X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 10 - - L1CAM Arg184Gln R184Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - L1CAM Asp598Asn D598N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - L1CAM Cys264Tyr C264Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - L1CAM Gln974Stop Q974X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - L1CAM Gly370Arg G370R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 4 - - L1CAM Gly452Arg G452R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - L1CAM His210Gln H210Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.8 Y Y -1 - 5 N 10 - - L1CAM Ile179Ser I179S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - L1CAM Pro240Leu P240L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - L1CAM Ser1194Leu S1194L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 10 - - L1CAM Val752Met V752M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 9 - - L2HGDH Gly55Asp G55D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 1 - - L2HGDH Pro302Leu P302L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - LAMA2 Arg1549Stop R1549X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LAMA2 Arg2383Stop R2383X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LAMA2 Arg2578Stop R2578X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - LAMA2 Arg3085Stop R3085X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - LAMA2 Cys527Tyr C527Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - LAMA2 Cys862Arg C862R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - LAMA2 Cys967Stop C967X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - LAMA2 Gln1241Stop Q1241X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - LAMA2 Leu2564Pro L2564P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - LAMA3 Arg650Stop R650X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LAMA3 Gln1368Stop Q1368X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - LAMB2 Arg246Gln R246Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - LAMB2 Arg246Trp R246W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 9 - - LAMB2 Cys321Arg C321R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - LAMB2 Cys374Stop C374X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - LAMB2 Tyr689Stop Y689X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - LAMB3 Arg42Stop R42X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LAMB3 Gln166Stop Q166X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - LAMB3 Gln936Stop Q936X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - LAMB3 Glu210Lys E210K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y Y 0 - 4 N 10 - - LAMB3 Gly199Ala G199A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 10 - - LAMB3 Lys207Gln K207Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.715 Y Y -2 - 5 N 10 - - LAMB3 Trp610Stop W610X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LAMC2 Arg95Stop R95X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LAMC2 Arg245Stop R245X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - LAMC2 Cys553Stop C553X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - LAMC2 Tyr355Stop Y355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - LAMP2 Gln174Stop Q174X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LAMP2 Leu113Stop L113X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LAMP2 Trp321Arg W321R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - LAMP2 Val310Ile V310I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 2 - - LARGE Glu509Lys E509K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 0 - 5 N 10 - - LBR Pro119Leu P119L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 2 - - LBR Pro569Arg P569R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N - - LCA5 Gln279Stop Q279X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - LCAT Arg135Trp R135W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - LCAT Asn131Asp N131D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - LCAT Asn228Lys N228K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - LCAT Ile123Thr I123T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - LCAT Leu209Pro L209P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.024 Y - 7 Y 3 N 2 - - LCAT Met252Lys M252K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 2 - - LCAT Met293Ile M293I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 2 - - LCAT Pro10Leu P10L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - LCAT Thr123Ile T123I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - LCAT Thr321Met T321M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - LCAT Thr347Met T347M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - LCAT Trp147Arg W147R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - LCAT Tyr83Stop Y83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - LCT Gln268His Q268H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - LCT Tyr1390Stop Y1390X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - LDB3 Ala147Thr A147T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 9 - - LDB3 Ala165Val A165V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - LDB3 Arg268Cys R268C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - LDB3 Asp117Asn D117N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 4 - - LDB3 Asp626Asn D626N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - LDB3 Ile352Met I352M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - LDB3 Lys136Met K136M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 3 - - LDB3 Ser196Leu S196L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - LDB3 Thr213Ile T213I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - LDHA Glu328Stop E328X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - LDHB Arg173His R173H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - LDHB Lys6Glu K6E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - LDHB Ser131Arg S131R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - LDHB Trp323Arg W323R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 2 - - LDLR Ala410Thr A410T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - LDLR Arg385Arg R385R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -10 - 4 N 10 - - LDLR Asp154Asn D154N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - LDLR Asp206Glu D206E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 10 - - LDLR Asp283Asn D283N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 4 - - LDLR Asp412His D412H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - LDLR Cys25Ser C25S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - LDLR Cys88Ser C88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - LDLR Cys163Tyr C163Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LDLR Cys210Stop C210X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - LDLR Cys240Phe C240F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - LDLR Cys646Tyr C646Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LDLR Cys660Stop C660X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - LDLR Gln12Stop Q12X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - LDLR Glu207Lys E207K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - LDLR Gly186Gly G186G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -9 - 4 N 3 - - LDLR Gly525Asp G525D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 4 - - LDLR Gly528Asp G528D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - LDLR Gly544Val G544V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - LDLR Gly823Asp G823D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 5 - - LDLR Leu380His L380H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LDLR Pro664Leu P664L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - LDLR Ser156Leu S156L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LDLR Trp23Stop W23X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - LDLR Trp66Gly W66G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - LDLR Trp792Stop W792X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - LDLR Tyr167Stop Y167X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - LDLR Tyr807Cys Y807C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LDLR Val408Met V408M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - LDLR Val502Met V502M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - LEFTY2 Arg314Stop R314X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - LEFTY2 Ser342Lys S342K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 1 - - LEP Arg105Trp R105W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 7 - - LEPR Gln23Arg Q23R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - LEPRE1 Arg368Stop R368X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - LEPRE1 Tyr552Stop Y552X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - LFNG Phe188Leu F188L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.782 Y Y 0 - 5 N 5 - - LGI1 Arg136Trp R136W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - LGI1 Cys46Arg C46R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - LGI1 Glu383Ala E383A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 9 - - LGI1 Ile122Lys I122K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.908 Y Y 6 Y 6 N 1 - - LGI1 Leu232Pro L232P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 7 Y 6 N 2 - - LGI1 Phe318Cys F318C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - LGR8 Thr222Pro T222P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - LHB Gln54Arg Q54R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - LHB Gly36Asp G36D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - LHB Gly102Ser G102S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - LHCGR Ala373Val A373V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - LHCGR Ala568Val A568V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 6 - - LHCGR Ala572Val A572V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - LHCGR Ala593Pro A593P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 8 - - LHCGR Arg133Cys R133C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - LHCGR Arg554Stop R554X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - LHCGR Asp564Gly D564G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - LHCGR Asp578Gly D578G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 8 - - LHCGR Asp578His D578H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - LHCGR Asp582Gly D582G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - LHCGR Cys343Ser C343S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - LHCGR Cys543Arg C543R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - LHCGR Cys545Stop C545X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - LHCGR Glu354Lys E354K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - LHCGR Ile542Leu I542L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 6 - - LHCGR Ile625Lys I625K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 6 - - LHCGR Leu368Pro L368P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - LHCGR Leu457Arg L457R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LHCGR Leu502Pro L502P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - LHCGR Met398Thr M398T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - LHCGR Met575Ile M575I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - LHCGR Ser616Tyr S616Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - LHCGR Thr577Ile T577I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - LHCGR Val144Phe V144F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - LHFPL5 Thr165Met T165M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.899 - - 2 - 4 N - - LHFPL5 Tyr127Cys Y127C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.637 - - 6 Y 3 N - - LHX3 Ala210Val A210V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 2 - 5 N 10 - - LHX3 Glu173Stop E173X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LHX3 Lys50Stop K50X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LHX3 Trp224Stop W224X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LHX3 Tyr116Cys Y116C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - LHX4 Ala210Pro A210P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 4 - - LHX4 Arg84Cys R84C pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 1 1 2 Y 1 Y 0 Y 0 Y 4 Y 4 Y Y Y - - 1.0 Y - 8 Y 5 N 4 2 0 A rare variant reported to cause growth hormone deficiency in a dominant manner. No statistical was established -- only one case report in a screen of 245 families, and no controls reported. LHX4 Leu190Arg L190R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y - 6 Y 5 N 4 - - LHX4 Pro366Thr P366T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - LIFR Arg597Stop R597X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - LIG1 Arg771Trp R771W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - LIG1 Glu566Lys E566K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - LIG4 Arg278His R278H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - LIG4 Arg580Stop R580X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LIG4 Arg814Stop R814X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LIG4 Gly469Glu G469E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 6 Y 4 N - - LIM2 Phe105Val F105V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - LIPA Leu179Pro L179P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - LIPA Tyr22Stop Y22X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - LIPC Ser267Phe S267F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - LIPC Thr383Met T383M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - LIPI Cys55Tyr C55Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - LITAF Gly112Ser G112S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 2 - 6 N 10 - - LITAF Leu122Val L122V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.948 Y Y 0 - 6 N 4 - - LITAF Thr115Asn T115N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.874 Y Y 1 - 6 N 10 - - LITAF Trp116Gly W116G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - LITAF Val144Met V144M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y Y 0 - 6 N 6 - - LMAN1 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y - 2 - 5 N 10 - - LMF1 Tyr439Stop Y439X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LMNA Ala57Pro A57P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.475 Y Y 2 - 5 N 10 - - LMNA Ala529Thr A529T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 6 - - LMNA Ala529Val A529V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 2 - 4 N 10 - - LMNA Arg60Gly R60G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.411 Y Y 6 Y 5 N 10 - - LMNA Arg133Leu R133L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.922 Y Y 6 Y 6 N 10 - - LMNA Arg133Pro R133P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 5 Y 6 N 10 - - LMNA Arg249Trp R249W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - LMNA Arg298Cys R298C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - LMNA Arg377His R377H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - LMNA Arg399Cys R399C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.476 Y Y 8 Y 5 N 10 - - LMNA Arg453Trp R453W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - LMNA Arg471Cys R471C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - LMNA Arg482Gln R482Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.046 Y Y 0 - 4 N 10 - - LMNA Arg482Leu R482L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.88 Y Y 6 Y 6 N 10 - - LMNA Arg482Trp R482W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 7 Y 6 N 10 - - LMNA Arg527Cys R527C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 8 Y 6 N 10 - - LMNA Arg527His R527H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.024 Y Y 1 - 4 N 10 - - LMNA Arg527Pro R527P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.118 Y Y 5 Y 4 N 10 - - LMNA Arg571Ser R571S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - LMNA Arg582His R582H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - LMNA Asn195Lys N195K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - LMNA Asp230Asn D230N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 6 - - LMNA Gln6Stop Q6X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LMNA Gln493Stop Q493X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - LMNA Glu145Lys E145K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.922 Y Y 0 - 6 N 10 - - LMNA Glu161Lys E161K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.712 Y Y 0 - 5 N 10 - - LMNA Glu203Gly E203G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - LMNA Glu358Lys E358K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 10 - - LMNA Gly465Asp G465D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 10 - - LMNA Gly608Gly G608G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -9 - 5 N 10 - - LMNA Gly608Ser G608S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 2 - 4 N 10 - - LMNA His222Tyr H222Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.231 Y Y -1 - 5 N 10 - - LMNA Leu85Arg L85R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - LMNA Leu140Arg L140R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.487 Y Y 6 Y 5 N 10 - - LMNA Leu380Ser L380S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 1 - - LMNA Leu530Pro L530P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - LMNA Lys542Asn K542N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.199 Y Y 1 - 4 N 10 - - LMNA Ser143Phe S143F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.221 Y Y 5 Y 5 N 10 - - LMNA Ser573Leu S573L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.923 Y Y 6 Y 6 N 10 - - LMNA Tyr259Stop Y259X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LMNA Val440Met V440M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y Y 0 - 6 N 10 - - LMNA Val607Val V607V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -8 - 5 N 3 - - LMNB2 Ala407Thr A407T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10544 9.484e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - LMNB2 Arg215Gln R215Q pathogenic Low clinical importance, Likely pathogenic dominant Array rs61726481 117 10712 0.0109223 1 0 1 1 1 1 Y - - 4 Y 0 Y 3 - 1 Y - Y - - 0.666 - - 0 - 3 N 0 1 Carriers of this variant have increased susceptibility to acquired partial lipodystrophy ("Barraquer-Simons syndrome", loss of fat in the upper body) -- this syndrome is quite rare, however, so even for carriers the chances of developing the syndrome is very low (less than 1%). LMX1B Arg198Stop R198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - LMX1B Arg200Gln R200Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - LMX1B Arg208Stop R208X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - LMX1B Arg226Stop R226X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - LMX1B Asn246Lys N246K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - LMX1B Cys95Phe C95F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 4 - - LMX1B Gln59Stop Q59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - LOC387715 Ala69Ser A69S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - LOX1 Lys167Asn K167N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - LOXHD1 Arg670Stop R670X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LPA Arg21Stop R21X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LPIN1 Arg388Stop R388X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - LPIN1 Arg801Stop R801X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - LPIN1 Glu215Stop E215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - LPIN2 Ser734Leu S734L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - LPL Ala176Thr A176T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - LPL Ala334Thr A334T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - LPL Arg75Ser R75S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - LPL Arg243Cys R243C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 8 - - LPL Arg243His R243H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 7 - - LPL Asn291Ser N291S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - LPL Asp9Asn D9N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - LPL Asp156Gly D156G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - LPL Asp180Glu D180E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - LPL Asp204Glu D204E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y -2 - 4 N 10 - - LPL Asp250Asn D250N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - LPL Cys239Trp C239W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - LPL Cys418Tyr C418Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - LPL Gln106Stop Q106X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - LPL Gly142Glu G142E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - LPL Gly188Glu G188E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 6 6 1 Y - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - LPL Gly195Glu G195E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - LPL Ile194Thr I194T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - LPL Ile225Thr I225T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - LPL Leu365Val L365V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - LPL Pro207Leu P207L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - LPL Ser172Cys S172C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - LPL Ser244Thr S244T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 7 - - LPL Ser447Stop S447X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LPL Trp64Stop W64X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - LPL Trp86Arg W86R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - LPL Trp382Stop W382X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LPL Tyr61Stop Y61X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - LPL Tyr73Stop Y73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - LPL Tyr302Stop Y302X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - LRAT Ser175Arg S175R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - LRP2 Arg365Stop R365X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 1 - - LRP2 Arg3399Stop R3399X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 1 - - LRP2 Tyr2522His Y2522H pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 3 Y - - - - - - 5 Y 1 Y Y Y - - 0.998 - Y -1 - 5 N 3 - - Homozygous carriers of this variant have a substitution of a highly conserved residue in the LDL receptor class B domain of megalin, resulting in Donnai-Barrow syndrome (DBS) which is characterized by diaphragmatic hernia, exomphalos, absent corpus callosum, myopia, and sensorineural deafness. LRP5 Ala214Thr A214T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 1 - 6 N 10 - - LRP5 Ala214Val A214V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 2 - 6 N 10 - - LRP5 Ala242Thr A242T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.932 Y Y 1 - 6 N 10 - - LRP5 Arg428Stop R428X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - LRP5 Arg444Cys R444C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.19 Y Y 8 Y 4 N 10 - - LRP5 Arg494Gln R494Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - LRP5 Arg570Gln R570Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - LRP5 Arg570Trp R570W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - LRP5 Arg752Gly R752G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - LRP5 Asp718Stop D718X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - LRP5 Gln853Stop Q853X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - LRP5 Glu485Stop E485X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - LRP5 Glu1367Lys E1367K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - LRP5 Gly171Arg G171R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - LRP5 Gly171Val G171V protective Insufficiently evaluated protective dominant Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - Mutation in gene commonly known for osteoporosis actually protects against osteoporosis. LRP5 Gly610Arg G610R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 6 - - LRP5 Leu145Phe L145F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y Y 0 - 6 N 8 - - LRP5 Thr253Ile T253I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - LRP5 Trp10Stop W10X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - LRP5 Trp734Stop W734X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - LRP5 Val667Met V667M pathogenic High clinical importance, Uncertain pathogenic recessive Array rs4988321 445 10758 0.0413646 2 0 2 1 1 2 Y 0 Y 0 Y 0 Y 4 - - - Y Y - - 0.96 Y Y 0 - 6 N 10 2 0 This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems. LRP6 Arg611Cys R611C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - LRPPRC Ala354Val A354V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.688 Y - 2 - 4 N 10 - - LRRK2 Arg1441Cys R1441C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - LRRK2 Arg1441Gly R1441G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - LRRK2 Arg1441His R1441H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - LRRK2 Gly2019Ser G2019S pathogenic Moderate clinical importance, pathogenic unknown Array 5 10758 0.00046477 0 0 0 3 3 2 Y - - 4 - 3 - 3 Y 4 - Y Y - - - Y Y 2 - Parkinson Disease 4 57 0 125 INF 5 Y 1 2 This variant has been associated with causing Parkinson's disease in a dominant manner with incomplete penetrance. In individuals carrying this variant that also have an affected carrier relative, the rate of Parkinson's is 15% at 60 years, 32% at 80 years. It is unclear what the penetrance is for this variant in the absence of family history information, but we estimate a 10-20% attributable increased risk. LRRK2 Gly2385Arg G2385R pathogenic Insufficiently evaluated pathogenic unknown Array rs34778348 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - LRRK2 Ile1122Val I1122V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - LRRK2 Ile2020Thr I2020T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - LRRK2 Tyr1699Cys Y1699C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - LRTOMT Arg81Gln R81Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - LRTOMT Glu110Lys E110K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - LRTOMT Trp105Arg W105R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - LRTOMT Tyr71Stop Y71X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LTA Thr26Asn T26N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - LTBP2 Arg299Stop R299X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LTBP2 Gln111Stop Q111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LTBP3 Tyr744Stop Y744X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - LW Gln70Arg Q70R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - LYZ Asp67His D67H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.948 Y - 3 - 5 N 9 - - LYZ Ile56Thr I56T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 9 - - LYZ Phe57Ile F57I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 6 - - LZTS1 Lys119Glu K119E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.949 - - 0 - 4 N - - LZTS1 Ser29Pro S29P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.028 - - 3 - 2 N - - MAD1L1 Arg59Cys R59C pathogenic Low clinical importance, Uncertain pathogenic undefined Array 37 10392 0.00356043 0 0 0 1 1 2 Y - - 0 Y - - 3 Y 3 - - Y - - 0.996 - - 8 Y 4 N 0 0 Hypothesized to be involved in prostate cancer, but no statistically significant data. Using more detailed variant frequency information, the variant does not appear to be enriched in the cancer samples reported by Tsukasaki et al. MAD1L1 Tyr649Stop Y649X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MAF Arg288Pro R288P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - MAF Lys297Arg K297R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - -3 - 4 N - - MAGT1 Val311Gly V311G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.656 - - 8 Y 3 N - - MAMLD1 Arg653Stop R653X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MAMLD1 Gln197Stop Q197X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MAMLD1 Glu124Stop E124X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MAN2B1 Arg750Trp R750W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - MAN2B1 Arg760Stop R760X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - MAN2B1 Gln639Stop Q639X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - MAN2B1 His71Leu H71L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - MAN2B1 Pro356Arg P356R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 6 - - MANBA Gln426Stop Q426X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - MANBA Glu83Stop E83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - MANBA Ser505Pro S505P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 1 - - MAOA Gln296Stop Q296X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 Y - - MAP2K1 Gly128Val G128V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 3 - - MAP2K1 Phe53Ser F53S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 5 - - MAP2K1 Tyr130Cys Y130C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 5 - - MAP2K2 Phe57Cys F57C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 5 - - MAP2K2 Phe57Val F57V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 1 - - MAP2K2 Tyr134His Y134H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.692 Y Y -1 - 5 N 1 - - MAPK8IP1 Ser59Asn S59N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.181 - - 0 - 2 N - - MAPT Arg5His R5H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 1 - 6 N 10 - - MAPT Arg5Leu R5L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - MAPT Arg406Trp R406W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - MAPT Asn279Lys N279K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - MAPT Asn296Asn N296N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -11 - 5 N 10 - - MAPT Glu342Val E342V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - MAPT Gly272Val G272V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - MAPT Gly303Val G303V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - MAPT Gly389Arg G389R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MAPT Leu266Val L266V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - MAPT Lys257Thr K257T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - MAPT Lys317Met K317M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - MAPT Lys369Ile K369I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MAPT Pro301Leu P301L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - MAPT Pro301Ser P301S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - MAPT Ser305Asn S305N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - MAPT Ser320Phe S320F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - MAPT Ser352Leu S352L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - MAPT Val337Met V337M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - MARVELD2 Arg500Stop R500X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MASP2 Asp105Gly D105G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - MASTL Glu167Asp E167D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.94 Y - -2 - 5 N 4 - - MAT1A Ala55Asp A55D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 3 - - MAT1A Arg264Cys R264C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 6 - - MAT1A Arg264His R264H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 1 - 5 N 10 - - MAT1A Gly336Arg G336R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 2 - - MAT1A Ile322Met I322M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.372 Y - -1 - 4 N 4 - - MAT1A Leu305Pro L305P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 3 - - MAT1A Pro357Leu P357L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.953 Y - 7 Y 5 N 3 - - MATN3 Ala128Pro A128P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 4 - - MATN3 Ala219Asp A219D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 5 Y 6 N 3 - - MATN3 Arg70His R70H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.311 Y Y 1 - 5 N - - MATN3 Arg121Trp R121W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - MATN3 Cys304Ser C304S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 1 - - MATN3 Thr303Met T303M pathogenic Moderate clinical importance, Uncertain pathogenic unknown Array rs28939676 108 10122 0.0106698 1 0 1 1 1 1 Y - - 1 Y 2 Y 3 Y 3 - Y Y - - 1.0 Y Y 2 - 6 N 10 1 0 An Iceland study implicated this in causing increased osteoarthritis -- in particular, hand osteoarthritis. Because the variant is rare, the statistical significance of observations is weak. The authors estimate that individuals heterozygous for this variant have a 2.1-fold risk for hand osteoarthritis. MATN3 Val194Asp V194D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - MATR3 Ser85Cys S85C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.937 Y - 3 - 5 N 10 - - MBTPS2 Arg429His R429H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - MBTPS2 His277Leu H277L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - MBTPS2 Met87Ile M87I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.986 - - -1 - 4 N - - MBTPS2 Phe475Ser F475S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 5 Y 4 N - - MBTPS2 Trp226Leu W226L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - MC1R Arg160Trp R160W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N 10 - - MC1R Asp84Glu D84E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - MC1R Asp294His D294H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - MC1R Pro159Thr P159T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - MC1R Thr157Ile T157I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - MC1R Val92Met V92M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N 10 - - MC2R Arg128Cys R128C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - MC2R Arg137Trp R137W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y - 7 Y 5 N 10 - - MC2R Arg201Stop R201X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MC2R Asp107Asn D107N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - -1 - 5 N 10 - - MC2R Cys251Phe C251F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 10 - - MC2R Ser74Ile S74I pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 5 Y 5 N 10 - - MC2R Ser120Arg S120R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 3 - 5 N 10 - - MC2R Tyr254Cys Y254C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - MC3R Ile183Asn I183N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 7 Y 4 N - - MC3R Ile335Ser I335S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 5 Y 4 N - - MC4R Ala175Thr A175T pathogenic Insufficiently evaluated pathogenic unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - MC4R Ala219Val A219V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 2 - 5 N 4 - - MC4R Asn62Ser N62S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - MC4R Asn97Asp N97D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - -1 - 5 N 10 - - MC4R Asn274Ser N274S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.653 Y - 0 - 4 N 10 - - MC4R Asp37Val D37V pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 8 Y 3 N 10 - - MC4R Cys271Tyr C271Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - MC4R Ile102Ser I102S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.975 Y - 5 Y 5 N 10 - - MC4R Ile125Lys I125K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.766 Y - 6 Y 4 N 10 - - MC4R Ile170Val I170V pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.817 Y - -4 - 4 N 10 - - MC4R Ile316Ser I316S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y - 5 Y 5 N 10 - - MC4R Ser58Cys S58C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 3 - 5 N 10 - - MC4R Ser127Leu S127L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 10 - - MC4R Tyr35Stop Y35X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MC4R Tyr287Stop Y287X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MC4R Val50Met V50M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y - 0 - 5 N 8 - - MCC Ala698Val A698V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MCC Arg506Gln R506Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 0 - 4 N - - MCCC1 Arg385Ser R385S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 3 - 5 N 9 - - MCCC1 Asp532His D532H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 3 - 5 N 2 - - MCCC1 Ile460Met I460M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y - -1 - 5 N 1 - - MCCC1 Leu437Pro L437P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 4 - - MCCC1 Met325Arg M325R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 3 - - MCCC1 Ser535Phe S535F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.058 Y - 5 Y 3 N 5 - - MCCC1 Val694Stop V694X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - MCCC2 Arg155Gln R155Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N - - MCCC2 Arg268Thr R268T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.016 Y - 3 - 3 N 2 - - MCCC2 Asp280Tyr D280Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 1 - - MCCC2 Cys167Arg C167R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 1 - - MCCC2 Glu99Gln E99Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - -2 - 5 N 4 - - MCCC2 His190Arg H190R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N - - MCCC2 Ile437Val I437V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y - -4 - 3 N - - MCCC2 Pro310Arg P310R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N - - MCEE Arg47Stop R47X pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MCFD2 Asp81Tyr D81Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 9 - - MCFD2 Asp129Glu D129E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y - -2 - 5 N 4 - - MCFD2 Ile136Thr I136T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 3 - 5 N 10 - - MCOLN1 Arg102Stop R102X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - MCOLN1 Arg321Stop R321X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - MCOLN1 Arg403Cys R403C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MCOLN1 Asp362Tyr D362Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - MCOS2 Val7Phe V7F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - MCP Arg25Stop R25X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - MCP Cys1Tyr C1Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - MCP Ser206Pro S206P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - MCPH1 Ser25Stop S25X pathogenic Insufficiently evaluated pathogenic unknown Array 1 9692 0.000103177 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 10 - - MECP2 Ala2Val A2V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - MECP2 Ala140Val A140V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.113 Y Y 2 - 4 N 10 - - MECP2 Arg106Trp R106W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MECP2 Arg133Cys R133C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MECP2 Arg168Stop R168X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MECP2 Arg255Stop R255X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MECP2 Arg270Stop R270X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MECP2 Arg294Stop R294X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MECP2 Arg306Cys R306C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - MECP2 Glu137Gly E137G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - MECP2 Glu406Stop E406X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - MECP2 Glu455Stop E455X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - MECP2 Gly428Ser G428S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - MECP2 Leu100Val L100V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.896 Y Y 0 - 6 N 10 - - MECP2 Phe155Ser F155S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - MECP2 Pro152Ala P152A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 2 - 6 N 9 - - MECP2 Pro225Leu P225L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 8 - - MECP2 Pro322Ser P322S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 3 - 6 N 3 - - MECP2 Thr158Met T158M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - MECP2 Tyr141Stop Y141X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MED12 Arg961Trp R961W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - MED12 Asn1007Ser N1007S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - MEF2A Asn263Ser N263S pathogenic Insufficiently evaluated pathogenic unknown Array 12 9720 0.00123457 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - MEF2A Gly283Asp G283D pathogenic Insufficiently evaluated pathogenic unknown Array 1 9750 0.000102564 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.303 - - 4 Y 3 N - - MEF2A Pro279Leu P279L pathogenic Insufficiently evaluated pathogenic unknown Array 6 9748 0.00061551 1 0 1 0 0 - - - - - - - - - - - - - Y - - 0.996 - - 7 Y 4 N - - MEFV Ala744Ser A744S pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - MEFV Arg653His R653H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - MEFV Arg761His R761H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 10 - - MEFV Glu148Val E148V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 5 Y 6 N 10 - - MEFV Glu167Asp E167D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.035 Y Y -2 - 4 N 10 - - MEFV His478Tyr H478Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.932 Y Y -1 - 6 N 10 - - MEFV Lys695Arg K695R benign Low clinical importance, Likely benign unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - 5 Y 0 - - - - - Y Y - - 0.917 Y Y -3 - 6 N 10 0 1 Reported to cause Familial Mediterranean Fever in a recessive manner, recorded in ClinVar by OMIM and another clinical group (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002656/). This report comes from Bernot et al 1998 (PMID: 9668175) who screened 120 patient chromosomes and report seeing this in 3 Jewish families. However, the variant is relatively common with 0.8% frequency in European ancestry. This strongly contradicts the reported effect, and the observation of Bernot et al is not statistically different from this population data. MEFV Met694Ile M694I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - MEFV Met694Val M694V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - MEFV Phe479Leu F479L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - MEFV Thr267Ile T267I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y Y 3 - 4 N 10 - - MEFV Val726Ala V726A pathogenic Insufficiently evaluated pathogenic unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 2 - 4 N 10 - - MEN1 Arg460Stop R460X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MEN1 Arg527Stop R527X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MEN1 Asp418Asn D418N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - MEN1 Cys354Stop C354X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - MEN1 Gln260Stop Q260X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - MEN1 Glu26Lys E26K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.716 Y Y 0 - 5 N 8 - - MEN1 Glu255Lys E255K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - MEN1 His139Asp H139D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - MEN1 Leu22Arg L22R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 6 Y 6 N 10 - - MEN1 Lys135Ile K135I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 1 - - MEN1 Thr552Ser T552S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - MEN1 Trp198Stop W198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MEN1 Trp436Arg W436R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - MEN1 Trp436Stop W436X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - MEN1 Val184Glu V184E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - MERTK Arg651Stop R651X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - MESP2 Glu103Stop E103X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MESP2 Glu230Stop E230X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MESP2 Leu125Val L125V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - MET Asp1246Asn D1246N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - MET His1112Arg H1112R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - MET Leu1213Val L1213V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - MET Lys1262Arg K1262R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -3 - 4 N 6 - - MET Met1149Thr M1149T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - MET Met1268Ile M1268I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 5 - - MET Thr1191Ile T1191I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 5 - - MET Tyr1248Cys Y1248C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - MET Val1206Leu V1206L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - MET Val1238Ile V1238I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -4 - 4 N 10 - - MFN2 Arg94Gln R94Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - MFN2 Arg94Trp R94W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MFN2 Arg104Trp R104W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - MFN2 Arg280His R280H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - MFN2 Arg364Trp R364W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - MFN2 Arg707Trp R707W pathogenic High clinical importance, Uncertain pathogenic recessive Array 2 10758 0.000185908 0 0 0 2 2 2 Y - - 0 Y - - 4 - 2 Y Y Y - - 0.991 Y Y 7 Y 6 N 2 0 Reported to cause Charcot-Marie-Tooth disease type 2 in a recessive manner, causing peripheral neuropathy and clubfoot. Insufficient observations to establish statistical significance for this particular variant, but other variants in this gene are well-established as causal. MFN2 Gln276Arg Q276R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.616 Y Y 0 - 5 N 7 - - MFN2 His165Asp H165D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 7 - - MFN2 Leu76Pro L76P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.024 Y Y 7 Y 4 N 10 - - MFN2 Lys357Asn K357N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 7 - - MFN2 Pro251Ala P251A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - MFN2 Thr206Ile T206I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.587 Y Y 3 - 5 N 10 - - MFN2 Trp740Ser W740S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - MFN2 Val69Phe V69F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.503 Y Y 3 - 5 N 10 - - MFRP Gln175Stop Q175X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MFRP Ile182Thr I182T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.291 - - 3 - 3 N - - MFSD8 Gly310Asp G310D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 1 - - MFSD8 Gly429Asp G429D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 4 Y 6 N 1 - - MFSD8 Tyr121Cys Y121C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N - - MFSD8 Tyr298Stop Y298X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - MGAT2 Asn318Asp N318D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 1 - - MGAT2 Cys339Stop C339X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - MGAT2 His262Arg H262R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 4 - - MGAT2 Ser290Phe S290F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 5 Y 6 N 4 - - MHC2TA Glu381Stop E381X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MID1 Glu115Stop E115X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - MID1 Leu295Pro L295P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 7 Y 6 N 5 - - MID1 Leu626Pro L626P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y Y 7 Y 6 N 10 - - MINPP1 Gln270Arg Q270R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.054 - - 0 - 2 N - - MINPP1 Ser41Leu S41L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.669 - - 6 Y 3 N - - MIP Glu134Gly E134G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - MIP Thr138Arg T138R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - MITF Arg214Stop R214X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MITF Asn210Lys N210K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - MITF Ser250Pro S250P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 6 - - MITF Ser298Pro S298P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 9 - - MKKS Cys499Ser C499S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - MKKS Gln147Stop Q147X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - MKKS Gly52Asp G52D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.853 Y Y 4 Y 6 N 10 - - MKKS Leu277Pro L277P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.459 Y Y 7 Y 5 N 5 - - MKKS Thr57Ala T57A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - MKKS Thr325Pro T325P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 4 Y 4 N 10 - - MKKS Tyr37Cys Y37C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - MKKS Tyr264Stop Y264X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - MKS1 Cys492Trp C492W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N - - MLC1 Asn141Lys N141K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 Y Y 1 - 5 N - - MLC1 Asn141Ser N141S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 Y Y 0 - 5 N - - MLC1 Gly59Glu G59E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 6 Y 6 N 7 - - MLC1 Pro92Ser P92S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 5 - - MLC1 Ser93Leu S93L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.675 Y Y 6 Y 5 N 10 - - MLC1 Ser280Leu S280L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y Y 6 Y 6 N 7 - - MLC1 Tyr198Stop Y198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - MLH1 Ala681Thr A681T benign Insufficiently evaluated benign dominant Array 0 0 0 4 1 0 Y 0 Y - - - - 0 Y 0 Y Y Y - - 0.052 Y Y 1 - 4 N 10 - - Computational and functional evidence suggests that this variant is likely benign. MLH1 Arg226Stop R226X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 4 3 1 Y - - - - - - 4 Y 3 Y Y Y - - - Y Y 10 Y 6 N 9 - - This variant causes a severe truncation of the MLH1 protein, including the PMS2 binding site, and is associated with a high susceptibility to HNPCC-2 (Lynch syndrome); patients homozygous with this variant have been found to demonstrate the symptoms of Mismatch Repair Cancer Syndrome (caused by constitutional mismatch repair deficiency). MLH1 Asp132His D132H pathogenic High clinical importance, pathogenic dominant Array 1 10758 9.2954e-05 0 0 0 2 1 3 Y 1 Y 4 Y - - 4 Y 3 Y Y Y - - 0.999 Y Y 3 - MLH1-Related Hereditary Non-Polyposis Colon Cancer 21 1231 5 1353 4.616 6 Y 8 2 2 This variant is associated with a high susceptibility to sporadic colorectal cancer; unlike most MLH1 mutations, the MLH1 D132H variant is not strongly associated with microsatellite-unstable tumors. MLH1 Glu578Gly E578G pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 7 2 0 Y 1 Y - - - - 4 Y 3 Y Y Y - - 0.066 Y Y 6 Y 4 Y 7 - - Computational evidence suggests that this variant is benign; however, functional evidence shows that this variant may have a weak penetrance for colorectal cancer due to its reduced, though not entirely absent, binding affinity for PMS2. MLH1 Gly67Glu G67E pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 4 1 3 Y 2 Y - - - - 4 Y 3 Y Y Y - - 1.0 Y Y 6 Y 6 Y 9 - - Though heterozygous mutations in MLH1 are usually associated with hereditary nonpolyposis colorectal cancer-2 (HNPCC2), other tumors unusual to a mutated MLH1 gene have been shown to be associated with the MLH1 G67E variant in addition to HNPCC2. MLH1 Gly67Trp G67W pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 3 2 4 Y 2 Y - - - - 4 Y 3 Y Y Y - - 1.0 Y Y 7 Y 6 Y 2 - - Computational and functional evidence suggests that this variant is likely pathogenic and associated with HNPCC-2 (Lynch syndrome). MLH1 His329Pro H329P pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 4 3 3 Y 1 Y - - - - 4 Y 3 Y Y Y - - 0.911 Y Y 5 Y 6 Y 6 - - This variant is likely pathogenic and associated with HNPCC-2 (Lynch syndrome). MLH1 Lys618Ala K618A benign Insufficiently evaluated benign dominant Array 0 0 0 3 1 0 Y 0 Y - - - - 0 Y 0 Y Y Y - - - Y Y 2 - 5 N 10 - - Computational and functional evidence suggests that this variant is likely benign. MLH1 Met35Asn M35N pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 0 2 Y - - - - - - 4 Y 3 Y Y Y - - - Y Y 5 Y 5 N 1 - - MLH1 Pro648Ser P648S pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 3 2 3 Y 1 Y 2 Y - - 4 Y 3 Y Y Y - - 0.999 Y Y 3 - MLH1-Related Hereditary Non-Polyposis Colon Cancer 1 4 0 155 INF 6 Y 8 2 0 This variant is associated with susceptibility to HNPCC-2 (Lynch syndrome) and mild predisposition to Mismatch Cancer Syndrome in homozygotes; this mutation likely causes an unstable protein and subsequent low levels of normal MLH1 expression rather than a repair function deficiency. MLH1 Ser44Phe S44F pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 6 3 4 Y 3 Y 2 Y 2 Y 4 Y 3 Y Y Y - - 0.992 Y Y 5 Y MLH1-Related Hereditary Non-Polyposis Colon Cancer 1 1 0 74 INF 6 Y 8 2 0 This variant was among the first MLH1 mutations identified to be associated with a high susceptibility to hereditary nonpolyposis colorectal cancer (HNPCC, or Lynch syndrome), an association widely supported by numerous functional yeast assays. MLH1 Ser252Stop S252X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 0 1 Y - - - - - - 4 Y 3 Y Y Y - - - Y Y 10 Y 6 N - - MLH1 Ser269Stop S269X pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 0 1 Y - - - - - - 4 Y 3 Y Y Y - - - Y Y 10 Y 6 N - - MLH1 Thr117Met T117M pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 5 3 3 Y 5 Y - - - - 4 Y 3 Y Y Y - - 0.997 Y Y 2 - 6 Y 7 - - This variant is associated with a high susceptibility to HNPCC-2 (Lynch syndrome). MLH3 Asn499Ser N499S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.045 - - 0 - 2 N - - MLH3 Gln24Glu Q24E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.954 - - -2 - 4 N - - MLH3 Glu624Gln E624Q benign Low clinical importance, Uncertain benign unknown Array rs28756986 88 10758 0.00817996 1 0 1 3 3 0 Y 2 Y 1 Y 1 Y - - - - - Y - - 0.711 - - -2 - 3 N 9 0 0 Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype. MLH3 Glu1451Lys E1451K pathogenic Insufficiently evaluated pathogenic unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.98 - - 0 - 4 N - - MLH3 Trp1276Arg W1276R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.063 - - 7 Y 2 N - - MLPH Arg35Trp R35W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.962 - - 7 Y 4 N - - MLYCD Gly3Asp G3D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.442 Y - 4 Y 4 N 5 - - MLYCD Met40Thr M40T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 4 - - MLYCD Ser148Stop S148X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - MMAA Arg145Stop R145X pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MMAA Gln95Stop Q95X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - MMAA Tyr207Cys Y207C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 3 - - MMAB Arg186Trp R186W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MMACHC Arg111Stop R111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MMACHC Arg132Stop R132X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MMACHC Arg161Gln R161Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 6 - - MMACHC Leu116Pro L116P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 7 Y 6 N 2 - - MMP13 His213Asn H213N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - MMP13 Met72Thr M72T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MMP13 Phe55Ser F55S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - MMP13 Phe56Ser F56S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - MMP2 Arg101His R101H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.138 Y - 1 - 3 N 10 - - MMP2 Glu404Lys E404K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - MMP2 Tyr244Stop Y244X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MMP9 Met1Lys M1K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - MOCS1 Arg73Trp R73W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - MOCS1 Arg319Gln R319Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - MOCS2 Gln6Stop Q6X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - MOCS2 Glu168Lys E168K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.931 Y - 0 - 5 N 4 - - MOCS2 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - MPDU1 Gly73Glu G73E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - MPDU1 Leu74Ser L74S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MPDU1 Leu119Pro L119P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - MPDU1 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 2 - - MPI Arg219Gln R219Q pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y Y 0 - 6 N 10 - - MPI Arg295His R295H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 6 - - MPI Met138Thr M138T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.804 Y Y 2 - 5 N 4 - - MPI Ser102Leu S102L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - MPL Arg102Pro R102P pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - MPL Arg257Cys R257C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - MPL Gln186Stop Q186X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - MPL Pro275Thr P275T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y - 4 Y 5 N 6 - - MPL Pro635Leu P635L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 7 Y 5 N 9 - - MPL Ser505Asn S505N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 Y - 0 - 4 N 10 - - MPL Trp491Stop W491X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - MPL Trp515Leu W515L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 10 - - MPL Trp515Lys W515K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - MPO Ala332Val A332V pathogenic Insufficiently evaluated pathogenic unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.022 - - 2 - 2 N - - MPO Arg499Cys R499C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - MPO Arg569Trp R569W pathogenic Insufficiently evaluated pathogenic unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - MPO Gly501Ser G501S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.327 - - 2 - 3 N - - MPO Leu572Trp L572W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - MPO Met251Thr M251T pathogenic Low clinical importance, Uncertain pathogenic recessive Array 98 10758 0.0091095 0 0 0 1 1 1 Y - - - - 0 Y 1 Y 0 Y - Y - - 0.903 - - 2 - 4 N 0 0 A single sporadic observation implicated this variant in causing myeloperoxidase (MPO) deficiency in a recessive manner, but lacks any statistical significance. MPO deficiency generally causes no symptoms, but there are reports of associations with some cancers. MPO Tyr173Cys Y173C pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs78950939 6 10758 0.000557724 1 0 1 1 1 2 Y 3 Y 0 Y 0 Y 3 Y 3 - - Y - - 1.0 - - 6 Y 4 N 0 0 This variant is reported to cause MPO-deficiency, which is generally asymptomatic. MPO-deficiency may cause increased susceptibility to immunodeficiency or antibacterial immune response, but most people with MPO deficiency have no symptoms. This gene is likely to be redundant with other immune mechanisms, and individuals who did have symptoms possibly had additional pathogenic variants in other genes. MPV17 Arg50Gln R50Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y - 0 - 5 N 10 - - MPV17 Arg50Trp R50W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 9 - - MPV17 Asn166Lys N166K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 7 - - MPV17 Gly24Trp G24W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 7 Y 5 N 5 - - MPV17 Trp120Stop W120X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - MPZ Arg98Cys R98C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MPZ Arg98His R98H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - MPZ Arg98Pro R98P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - MPZ Asn131Lys N131K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 3 - - MPZ Asp6Tyr D6Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - MPZ Asp60His D60H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y 3 - 6 N 10 - - MPZ Asp75Val D75V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y 8 Y 6 N 8 - - MPZ Asp90Glu D90E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.337 Y Y -2 - 5 N 8 - - MPZ Gln186Stop Q186X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - MPZ Glu97Val E97V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.73 Y Y 5 Y 5 N 8 - - MPZ Gly74Glu G74E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - MPZ Gly123Ser G123S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - MPZ Gly137Ser G137S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 2 - 6 N 2 - - MPZ Gly167Arg G167R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.193 Y Y 6 Y 4 N 4 - - MPZ His81Arg H81R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - MPZ Ile62Met I62M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.02 Y Y -1 - 4 N 10 - - MPZ Ile62Phe I62F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.103 Y Y 2 - 4 N 4 - - MPZ Ile135Thr I135T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y Y 3 - 6 N 2 - - MPZ Lys96Glu K96E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.345 Y Y 0 - 5 N 6 - - MPZ Pro105Thr P105T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 4 Y 6 N 3 - - MPZ Ser44Phe S44F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - MPZ Ser49Leu S49L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - MPZ Ser63Cys S63C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y Y 3 - 6 N 10 - - MPZ Ser63Phe S63F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 10 - - MPZ Thr124Lys T124K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 7 - - MPZ Thr124Met T124M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - MPZ Tyr145Ser Y145S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.938 Y Y 5 Y 6 N 4 - - MR1 Ala7Val A7V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MR1 Ala9Val A9V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MR1 Ala33Pro A33P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MRAP Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.535 Y - -1 - 4 N 10 - - MRE11A Arg571Stop R571X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MRE11A Arg633Stop R633X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MRE11A Asn117Ser N117S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - MRE11A Thr481Lys T481K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.325 - - 3 - 3 N - - MRE11A Trp210Cys W210C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - MRPS16 Arg111Stop R111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - MRPS22 Arg170His R170H pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - MSH2 Ala636Pro A636P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.064 Y Y 2 - 4 N 10 - - MSH2 Arg406Stop R406X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - MSH2 Arg524Pro R524P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - MSH2 Gln601Stop Q601X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - MSH2 His639Tyr H639Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 3 - - MSH2 Pro622Leu P622L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MSH6 Trp1024Stop W1024X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - MSH6 Val878Ala V878A benign Low clinical importance, Likely benign unknown Array 62 10758 0.00576315 0 0 0 1 0 0 - 0 - 5 Y 0 - - - - - Y Y - - 0.009 Y Y 2 - 4 N 10 0 1 In a screen of 288 individuals suspected of having HNPCC, Wu et al. 2001 found this variant in one individual who also had a rare MLH3 variant. The publication was mainly investigating a role for MLH3 (and not this gene), and merely refers to this variant as a MSH6 (without additional evidence). These observations match the variant's general allele frequency: over 1% of individuals are carriers. Although this has been listed in Clinvar as pathogenic, if it caused this disease with high penetrance it would be extremely well-established (since the variant is relatively common). Since this is not the case, that hypothesis is effectively disproven. MSR1 Arg293Stop R293X pathogenic Low clinical importance, Likely pathogenic dominant Array rs41341748 80 10758 0.00743633 1 0 1 3 3 2 Y - - 4 - - - 4 Y 3 - - Y - - - - - 10 Y 4 N 0 1 Associated with increased risk of Barrett's esophagus and/or esophageal cancer. Our very rough estimate is that the increased risk may be around 4x (25% risk of Barrett's esophagus, assuming population average is 5%, and 1.2% lifetime risk of esophageal cancer compared to average .4% risk). MSR1 Asp174Tyr D174Y pathogenic Insufficiently evaluated pathogenic unknown Array 65 10758 0.00604201 0 0 0 2 0 - - - - - - - - - - - - - Y - - 0.952 - - 7 Y 4 N 9 - - MSX1 Arg31Pro R31P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - MSX1 Gln187Stop Q187X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - MSX1 Glu78Val E78V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.753 Y - 5 Y 4 N 7 - - MSX1 Gly116Glu G116E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.769 Y - 6 Y 4 N 9 - - MSX1 Met6Lys M6K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - MSX1 Pro147Gln P147Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.658 Y - 4 Y 4 N 10 - - MSX1 Ser105Stop S105X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MSX1 Ser202Stop S202X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MSX2 Ala89Stop A89X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - MSX2 Arg172His R172H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - MSX2 Pro148His P148H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - MSX2 Trp115Stop W115X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - MTATP6 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 6 - - MTATP8 Trp55Arg W55R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 2 - - MTATP8 Trp55Stop W55X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - MTCO1 Gly121Stop G121X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - MTCO1 Gly125Asp G125D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 1 - - MTCO1 Leu196Ile L196I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -2 - 3 N 5 - - MTCO1 Ser142Phe S142F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 3 - - MTCO1 Ser458Pro S458P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 1 - - MTHFD1 Arg293His R293H pathogenic Insufficiently evaluated pathogenic unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.023 - - 1 - 2 N - - MTHFR Arg158Gln R158Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - MTHFR Arg184Stop R184X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - MTHFR Arg377Cys R377C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 5 - - MTHFR Leu323Pro L323P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 4 - - MTHFR Met581Ile M581I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y - -1 - 3 N 7 - - MTM1 Arg69Cys R69C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MTM1 Arg224Stop R224X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MTM1 Arg241Cys R241C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MTM1 Asn207Ser N207S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N - - MTM1 Glu157Lys E157K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.019 Y Y 0 - 4 N 6 - - MTM1 Tyr415Cys Y415C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - MTMR14 Arg336Gln R336Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.996 - - 0 - 4 N - - MTMR14 Tyr462Cys Y462C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 6 Y 2 N - - MTMR2 Gln426Stop Q426X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - MTMR2 Gln482Stop Q482X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - MTMR2 Glu276Stop E276X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MTND2 Leu71Pro L71P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 1 - - MTND2 Trp114Stop W114X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - MTND3 Ala47Thr A47T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 1 - - MTND3 Ser45Pro S45P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 4 - - MTND4 Val312Ile V312I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -4 - 3 N 2 - - MTND4L Cys32Arg C32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N - - MTP Arg215Stop R215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MTP Arg540His R540H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - MTP Asn780Tyr N780Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - MTP Gly865Stop G865X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MTP Ile128Thr I128T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - MTP Ser590Ile S590I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - MTR Ala410Pro A410P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 2 - 6 N 10 - - MTR Arg585Stop R585X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MTR Glu1204Stop E1204X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MTR His920Asp H920D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 1 - - MTR Pro1173Leu P1173L pathogenic Insufficiently evaluated pathogenic unknown Array 4 10744 0.0003723 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MTRR Gly487Arg G487R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MTRR Ser454Leu S454L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - MUSK Val790Met V790M pathogenic Insufficiently evaluated pathogenic unknown Array 3 10114 0.000296618 0 0 0 2 2 - - - - - - - - - - - - Y Y - - 0.984 Y Y 0 - 6 N 10 - - Reported to cause Congenital Myasthenic Syndrome in a recessive manner MUT Ala378Glu A378E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - MUT Arg93His R93H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - MUT Arg108Cys R108C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - MUT Asn219Tyr N219Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - MUT Gln17Stop Q17X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - MUT Glu117Stop E117X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MUT Gly215Ser G215S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - MUT Gly623Arg G623R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MUT Gly703Arg G703R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MUT Gly717Val G717V pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - MUT Trp105Arg W105R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - MUTYH Gln400Arg Q400R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - MUTYH Glu466Stop E466X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MUTYH Gly382Asp G382D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - MUTYH Pro391Ser P391S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - MUTYH Tyr90Stop Y90X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MUTYH Tyr165Cys Y165C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - MVK Ala334Thr A334T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.925 Y - 1 - 5 N 10 - - MVK Asn301Thr N301T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 10 - - MVK His20Pro H20P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - MVK Ile268Thr I268T pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.784 Y - 3 - 4 N 10 - - MVK Pro165Leu P165L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.192 Y - 7 Y 3 N 10 - - MVK Val310Met V310M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 10 - - MVK Val377Ile V377I pathogenic Insufficiently evaluated pathogenic unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.016 Y - -4 - 3 N 10 - - MXI1 Ala54Val A54V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MXI1 Glu152Ala E152A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.949 - - 3 - 4 N - - MYBPC3 Arg820Gln R820Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - MYBPC3 Asn948Thr N948T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 6 - - MYBPC3 Glu542Gln E542Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10356 9.6562e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - MYBPC3 Glu1096Stop E1096X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - MYBPC3 Thr59Ala T59A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 6 - - MYBPC3 Val1125Met V1125M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - MYC Asn86Thr N86T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - MYC Glu39Asp E39D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - MYC Pro57Ser P57S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - MYC Pro59Ala P59A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - MYCN Arg382His R382H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 1 - - MYCN Arg393His R393H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 1 - - MYCN Arg393Ser R393S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 2 - - MYCN Arg394His R394H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 1 - - MYCN Glu73Stop E73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - MYCN Trp77Stop W77X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - MYD88 Arg196Cys R196C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - MYD88 Leu93Pro L93P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - MYF6 Ala112Ser A112S pathogenic Insufficiently evaluated pathogenic unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.984 - - -1 - 4 N - - MYH14 Arg726Ser R726S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - MYH14 Gly376Cys G376C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - MYH14 Leu976Phe L976F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - MYH14 Ser7Stop S7X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - MYH14 Ser120Leu S120L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - MYH2 Glu706Lys E706K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.532 Y - 0 - 4 N 10 - - MYH3 Ala234Thr A234T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - MYH3 Arg672Cys R672C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 8 - - MYH3 Arg672His R672H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 9 - - MYH3 Asp462Gly D462G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 3 - - MYH3 Glu375Lys E375K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y - 0 - 5 N 6 - - MYH3 Thr178Ile T178I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - MYH3 Val825Asp V825D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 8 Y 5 N 5 - - MYH6 Arg795Gln R795Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 0 - 4 N 3 - - MYH6 Ile820Asn I820N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 10 - - MYH7 Ala223Thr A223T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.356 Y Y 1 - 5 N 5 - - MYH7 Ala728Val A728V pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - MYH7 Arg249Gln R249Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - MYH7 Arg403Gln R403Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - MYH7 Arg403Leu R403L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - MYH7 Arg403Trp R403W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MYH7 Arg453Cys R453C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MYH7 Arg719Gln R719Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.895 Y Y 0 - 6 N 10 - - MYH7 Arg719Trp R719W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 10 - - MYH7 Arg723Cys R723C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 8 - - MYH7 Arg870His R870H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.867 Y Y 1 - 6 N 10 - - MYH7 Arg1500Pro R1500P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - MYH7 Arg1712Trp R1712W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MYH7 Arg1845Trp R1845W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - MYH7 Asp778Gly D778G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 5 - - MYH7 Glu483Lys E483K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 7 - - MYH7 Glu743Asp E743D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.872 Y Y -2 - 6 N 4 - - MYH7 Glu924Lys E924K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 0 - 6 N 10 - - MYH7 Glu935Lys E935K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.168 Y Y 0 - 4 N 4 - - MYH7 Glu949Lys E949K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 0 - 6 N 5 - - MYH7 Glu1883Lys E1883K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 2 - - MYH7 Gly256Glu G256E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - MYH7 Gly584Arg G584R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 8 - - MYH7 Gly716Arg G716R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - MYH7 Gly741Arg G741R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.288 Y Y 6 Y 5 N 10 - - MYH7 His1904Leu H1904L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - MYH7 Leu908Val L908V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.914 Y Y 0 - 6 N 10 - - MYH7 Leu1793Pro L1793P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - MYH7 Met349Thr M349T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - MYH7 Phe513Cys F513C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y Y 4 Y 6 N 10 - - MYH7 Phe764Leu F764L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 6 - - MYH7 Ser532Pro S532P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 8 - - MYH7 Ser642Leu S642L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 6 - - MYH7 Thr441Met T441M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 Y - - MYH7 Val606Met V606M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 0 - 6 N 10 - - MYH8 Arg674Gln R674Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - MYH9 Arg702Cys R702C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - MYH9 Arg702His R702H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - MYH9 Arg705His R705H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - MYH9 Arg1165Cys R1165C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 10 - - MYH9 Arg1933Stop R1933X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MYH9 Asn93Lys N93K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - MYH9 Asp1424Asn D1424N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y -1 - 6 N 10 - - MYH9 Asp1424His D1424H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - MYH9 Glu1841Lys E1841K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.309 Y Y 0 - 5 N 10 - - MYH9 Ser96Leu S96L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - MYH9 Thr1155Ile T1155I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 6 - - MYL2 Arg58Gln R58Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.389 Y Y 0 - 5 N 10 - - MYL2 Glu22Lys E22K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.427 Y Y 0 - 5 N 10 - - MYL2 Phe18Leu F18L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.113 Y Y 0 - 4 N 10 - - MYL2 Pro94Arg P94R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - MYL3 Arg154His R154H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - MYL3 Glu143Lys E143K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.798 Y Y 0 - 5 N 9 - - MYL3 Met149Val M149V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - MYLK2 Ala87Val A87V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10672 9.3703e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.14 - - 2 - 2 N - - MYLK2 Ala95Glu A95E pathogenic Insufficiently evaluated pathogenic unknown Array 26 10724 0.00242447 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.27 - - 3 - 3 N - - MYO15A Asn890Tyr N890Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 1 - - MYO15A Gln1229Stop Q1229X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - MYO15A Gln2716His Q2716H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 2 - - MYO15A Glu1105Stop E1105X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - MYO15A Gly1831Val G1831V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - MYO15A Ile892Phe I892F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - MYO15A Lys1300Stop K1300X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - MYO15A Thr2205Ile T2205I pathogenic Insufficiently evaluated pathogenic unknown Array 27 10116 0.00266904 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 2 - - MYO1A Arg93Stop R93X benign Low clinical importance, Likely benign unknown Array 47 10758 0.00436884 0 0 0 0 0 - - 0 Y 5 Y - - - - - - - Y - - - - - 10 Y 4 N 0 1 Reported to cause deafness in a dominant manner, as recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008623/). This effect comes from Donaudy et al 2003 (PMID: 12736868), who saw this variant once in a study of 230 Italian hearing-impaired patients. However, this variant has an allele frequency of 0.42% in European ExAC data – 1 in 120 are expected to carry the variant. Donaudy et al's observation matches the population in general, and the allele frequency far exceeds the prevalence of the condition; thus, this reported effect should be considered disproven. MYO1A Glu385Asp E385D pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.942 - - -2 - 4 N - - MYO1A Gly662Glu G662E pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array rs33962952 277 10758 0.0257483 1 0 1 1 1 0 Y - - 0 Y - - 3 Y 1 - - Y - - 0.001 - - 6 Y 2 N 1 0 Although one report speculated that this variant may cause dominant, early-onset sensorineural hearing loss, the findings lacked statistical significance. Notably, this gene is not a clinically tested gene and another of the eight variants reported by these authors (S797F) has since been observed in a PGP participant with no symptoms of hearing loss. MYO1A Ser910Pro S910P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.503 - - 3 - 3 N - - MYO1A Val306Met V306M benign Low clinical importance, Likely benign unknown Array 67 10758 0.00622792 0 0 0 1 1 1 Y - - 5 Y - - - - - - - Y - - - - - 0 - 3 N 0 1 Probably benign. Other variants in this gene implicated in causing autosomal dominant nonsyndromic deafness. This variant was also considered potentially pathogenic, but subsequent allele frequency data strongly contradicts such a hypothesis. MYO3A Tyr1043Stop Y1043X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - MYO5B Arg656Cys R656C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - MYO5B Pro660Leu P660L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - MYO5B Trp375Stop W375X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - MYO5B Val108Gly V108G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - MYO6 Arg849Stop R849X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - MYO6 Arg1166Stop R1166X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MYO6 Cys442Tyr C442Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - MYO6 Glu216Val E216V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - MYO6 His246Arg H246R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 8 - - MYO7A Arg150Stop R150X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MYO7A Arg212Cys R212C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 9 - - MYO7A Arg212His R212H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - MYO7A Arg244Pro R244P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.76 Y Y 5 Y 5 N 8 - - MYO7A Arg302His R302H benign Low clinical importance, Likely benign undefined Array rs41298135 18 10558 0.00170487 1 0 1 3 3 0 Y 2 Y 4 Y 0 Y - Y - - Y Y - - 0.948 Y Y 1 - 6 N 10 0 1 Weston, et al. 1996 reported seeing this on the same DNA strand with another variant in a couple cases of Usher Type I syndrome. That other variant was believed to cause disease in a recessive manner, while this variant was speculated to be coincidental observed. ExAC allele frequency data confirms that this variant is merely uncommon in Europeans (1 in 170 are carriers). If it were causal, it would be a well-established cause; the lack of such evidence in the literature confirms that the variant is not a "Mendelian" cause of Usher Type I syndrome. MYO7A Arg666Stop R666X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MYO7A Asn458Ile N458I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - MYO7A Cys31Stop C31X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - MYO7A Cys628Stop C628X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - MYO7A Gln234Stop Q234X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - MYO7A Met599Ile M599I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 9 - - MYOC Arg46Stop R46X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MYOC Asn480Lys N480K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 10 - - MYOC Asp380His D380H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 4 - - MYOC Cys245Tyr C245Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 9 - - MYOC Cys433Arg C433R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 2 - - MYOC Gln48His Q48H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.824 Y - -1 - 4 N 8 - - MYOC Gln337Arg Q337R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 5 - - MYOC Gln368Stop Q368X pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - MYOC Gly252Arg G252R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 3 - - MYOC Gly357Val G357V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - MYOC Gly367Arg G367R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 10 - - MYOC Gly399Val G399V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 4 - - MYOC Ile477Asn I477N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y - 7 Y 5 N 10 - - MYOC Ile477Ser I477S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.818 Y - 5 Y 4 N 8 - - MYOC Lys423Glu K423E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 0 - 5 N 10 - - MYOC Pro370Leu P370L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - MYOC Tyr437His Y437H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - -1 - 5 N 10 - - NAGA Arg329Gln R329Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - NAGA Arg329Trp R329W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - NAGA Glu193Stop E193X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - NAGA Glu325Lys E325K pathogenic Insufficiently evaluated pathogenic unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.745 Y - 0 - 4 N 10 - - NAGA Ser160Cys S160C pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 3 - 3 N 10 - - NAGLU Arg234Cys R234C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - NAGLU Arg297Stop R297X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - NAGLU Arg482Trp R482W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - NAGLU Arg565Pro R565P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - NAGLU Arg565Trp R565W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - NAGLU Arg626Stop R626X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - NAGLU Arg643Cys R643C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - NAGLU Arg643His R643H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - NAGLU Arg674His R674H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - NAGLU Phe48Leu F48L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y - 0 - 5 N 5 - - NAGLU Phe314Leu F314L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.899 Y - 0 - 5 N 2 - - NAGLU Pro521Leu P521L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - NAGS Ala279Thr A279T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y - 1 - 3 N 1 - - NAGS Glu433Asp E433D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -2 - 5 N 1 - - NAGS Leu430Pro L430P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10700 9.3457e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y - 7 Y 5 N 3 - - NAGS Trp324Stop W324X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - NAGS Trp484Arg W484R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - NAT1 Val149Ile V149I pathogenic Insufficiently evaluated pathogenic unknown Array rs4987076 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - Y - - 0.001 - - -4 - 2 N 9 - - NAT2 Lys268Arg K268R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - Y - - - -3 - 3 N - - NBN Arg215Trp R215W pathogenic Insufficiently evaluated pathogenic unknown Array 28 10744 0.00260611 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - NBN Gln326Stop Q326X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NBN Ile171Val I171V pathogenic Insufficiently evaluated pathogenic unknown Array 11 10754 0.00102287 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.802 Y Y -4 - 5 N 10 - - NBN Tyr363Stop Y363X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - NCF1 Arg42Gln R42Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 4 - - NCF1 Cys111Stop C111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NCF1 Gln91Stop Q91X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - NCF1 Gly192Ser G192S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 3 - - NCF2 Ala128Val A128V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 2 - 5 N 10 - - NCF2 Arg77Gln R77Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y - 0 - 5 N 2 - - NCF2 Arg395Trp R395W pathogenic Insufficiently evaluated pathogenic unknown Array rs13306575 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 7 Y 5 N 10 - - NCF2 Gln100Stop Q100X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - NDP Ala105Thr A105T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.865 Y Y 1 - 6 N 10 - - NDP Arg90Pro R90P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - NDP Arg121Leu R121L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - NDP Arg121Trp R121W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - NDP Cys69Ser C69S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - NDP Cys96Trp C96W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 9 - - NDP Cys96Tyr C96Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - NDP Cys110Gly C110G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - NDP Cys128Stop C128X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - NDP His42Arg H42R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 1 - 6 N 10 - - NDP Leu13Arg L13R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.45 Y Y 6 Y 5 N 8 - - NDP Leu61Phe L61F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.865 Y Y 0 - 6 N 10 - - NDP Leu124Phe L124F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.865 Y Y 0 - 6 N 7 - - NDP Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.82 Y Y 0 - 5 N 10 - - NDP Ser73Stop S73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - NDP Ser75Cys S75C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y Y 3 - 6 N 8 - - NDP Ser101Phe S101F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y 5 Y 6 N 10 - - NDP Tyr44Cys Y44C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 6 Y 6 N 6 - - NDP Val45Glu V45E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.83 Y Y 5 Y 5 N 10 - - NDP Val60Glu V60E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y Y 5 Y 6 N 9 - - NDRG1 Arg148Stop R148X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - NDUFA1 Arg37Ser R37S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y - 3 - 5 N 3 - - NDUFA1 Gly8Arg G8R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.793 Y - 6 Y 4 N 4 - - NDUFA12L Arg45Stop R45X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - NDUFA13 Lys88Asn K88N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - NDUFAF3 Arg122Pro R122P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.026 - - 5 Y 2 N - - NDUFAF3 Gly77Arg G77R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - NDUFAF3 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - NDUFS1 Arg241Trp R241W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - NDUFS1 Asp252Gly D252G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - NDUFS1 Leu231Val L231V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 0 - 5 N 10 - - NDUFS2 Arg228Gln R228Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - NDUFS2 Pro229Gln P229Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 4 Y 4 N - - NDUFS2 Ser413Pro S413P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.964 - - 3 - 4 N - - NDUFS3 Arg199Trp R199W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - NDUFS3 Thr145Ile T145I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 6 - - NDUFS4 Arg106Stop R106X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - NDUFS4 Trp15Stop W15X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - NDUFS4 Trp96Stop W96X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - NDUFS7 Arg145His R145H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 3 - - NDUFS7 Val122Met V122M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 0 - 5 N 10 - - NDUFS8 Arg102His R102H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - NDUFS8 Arg138His R138H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 3 - - NDUFS8 Pro79Leu P79L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.917 Y - 7 Y 5 N 10 - - NDUFS8 Pro85Leu P85L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 3 - - NDUFV1 Ala341Val A341V pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.025 Y - 2 - 3 N 10 - - NDUFV1 Glu214Lys E214K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 10 - - NDUFV1 Thr423Met T423M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.871 Y - 2 - 5 N 10 - - NDUFV2 Ala29Val A29V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - NEB Glu6636Stop E6636X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - NEFL Gln333Pro Q333P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - NEFL Glu140Stop E140X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - NEFL Leu94Pro L94P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - NEFL Pro8Arg P8R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - NEFL Pro22Ser P22S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - NEK8 His425Tyr H425Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - -1 - 4 N 10 - - NELF Thr480Ala T480A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - NEU1 Ala298Val A298V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.27 Y - 2 - 4 N 5 - - NEU1 Arg225Pro R225P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.697 Y - 5 Y 4 N 5 - - NEU1 Glu377Stop E377X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - NEU1 Gly243Arg G243R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.49 Y - 6 Y 4 N 10 - - NEU1 Leu91Arg L91R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.84 Y - 6 Y 4 N - - NEU1 Leu303Pro L303P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - NEU1 Phe260Tyr F260Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y - -4 - 5 N - - NEU1 Pro80Leu P80L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 5 - - NEU1 Pro316Ser P316S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.756 Y - 3 - 4 N 5 - - NEU1 Trp23Stop W23X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - NEU1 Trp29Stop W29X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - NEU1 Trp240Arg W240R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 4 - - NEU1 Val217Met V217M pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.746 Y - 0 - 4 N 10 - - NEUROD1 Arg111Leu R111L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - NEUROG3 Arg93Leu R93L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - NEUROG3 Arg107Ser R107S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - NEXN Pro611Thr P611T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 4 Y 4 N - - NEXN Tyr652Cys Y652C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - NF2 Arg57Stop R57X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - NF2 Arg262Stop R262X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - NF2 Arg341Stop R341X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - NF2 Arg466Stop R466X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - NF2 Gln320Stop Q320X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - NF2 Gln407Stop Q407X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - NF2 Gln538Pro Q538P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 4 Y 6 N 10 - - NF2 Glu182Stop E182X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - NF2 Glu463Stop E463X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - NF2 Glu527Stop E527X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - NF2 Leu360Pro L360P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 10 - - NF2 Leu535Pro L535P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 7 Y 6 N 10 - - NF2 Phe62Ser F62S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - NFKBIA Glu14Stop E14X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NFKBIA Ser32Ile S32I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 5 Y 4 N - - NFKBIA Trp11Stop W11X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NGFB Arg211Trp R211W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 1 - - NHEJ1 Arg57Gly R57G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - NHEJ1 Arg178Stop R178X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NHEJ1 Cys123Arg C123R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - NHLRC1 Arg265Stop R265X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - NHLRC1 Asp308Ala D308A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 6 - - NHLRC1 Cys26Ser C26S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - NHLRC1 Ile198Asn I198N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.442 Y Y 7 Y 5 N 6 - - NHLRC1 Pro69Ala P69A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - NHS Arg378Stop R378X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NHS Gln39Stop Q39X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NIPA1 Gly106Arg G106R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 6 Y 5 N 10 - - NIPA1 Thr45Arg T45R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 3 - 5 N 10 - - NIPBL Ala1246Gly A1246G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 1 - 6 N 4 - - NIPBL Arg1536Stop R1536X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - NIPBL Arg1723Stop R1723X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - NIPBL Met1Lys M1K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 8 - - NIPBL Tyr2430Cys Y2430C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 1 - - NKX2-1 Arg243Ser R243S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - NKX2-1 Gln249Stop Q249X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NKX2-1 Glu175Stop E175X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - NKX2-1 Trp238Leu W238L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 2 - - NKX2-1 Val45Phe V45F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - NKX2-5 Ala119Ser A119S pathogenic Insufficiently evaluated pathogenic unknown Array 4 10706 0.000373622 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - -1 - 3 N 8 - - NKX2-5 Ala219Val A219V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.47 Y - 2 - 4 N 4 - - NKX2-5 Arg161Pro R161P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - NKX2-5 Arg190Cys R190C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 7 - - NKX2-5 Arg216Cys R216C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 3 - - NKX2-5 Asp299Gly D299G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.679 Y - 4 Y 4 N 2 - - NKX2-5 Glu21Gln E21Q benign Low clinical importance, Uncertain benign undefined Array rs104893904 5 10634 0.000470189 1 0 1 2 2 0 Y - - - - 1 Y - - - - Y Y - - 0.931 Y - -2 - Isolated Nonsyndromic Congenital Heart Disease/Defects 1 5 0 100 INF 5 N 8 0 0 Probably nonpathogenic. Reported in a single case of tetralogy of fallot (a congenital heart defect), although an unaffected mother and grandmother were also carriers. A later study also found the variant in an affected family, but the variant did not segregate with disease (other affected family members were *not* carriers) -- they conclude that it is probably a nonpathogenic polymorphism. NKX2-5 Lys183Glu K183E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 5 - - NKX2-5 Tyr256Stop Y256X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - NKX2-6 Phe151Leu F151L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - NKX2E Arg25Cys R25C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 2 - - NKX2E Gln170Stop Q170X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - NKX2E Gln198Stop Q198X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - NKX2E Thr178Met T178M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 4 - - NLGN3 Arg451Cys R451C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - NLRP12 Arg284Stop R284X pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NLRP3 Ala352Val A352V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 8 - - NLRP3 Ala439Val A439V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - NLRP3 Arg260Trp R260W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - NLRP3 Asp303Asn D303N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - NLRP3 Glu627Gly E627G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 7 - - NLRP3 Gly569Arg G569R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - NLRP3 Leu353Pro L353P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - NLRP3 Phe309Ser F309S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 8 - - NLRP3 Phe573Ser F573S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 6 - - NLRP3 Val198Met V198M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - NLRP7 Arg432Stop R432X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NLRP7 Arg693Pro R693P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y - 5 Y 5 N 10 - - NLRP7 Arg693Trp R693W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 7 Y 5 N 5 - - NLRP7 Asn913Ser N913S pathogenic Insufficiently evaluated pathogenic unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.891 Y - 0 - 5 N 4 - - NOBOX Arg355His R355H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - NOD2 Arg334Gln R334Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - NOD2 Arg334Trp R334W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - NOD2 Asp382Glu D382E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -2 - 5 N 10 - - NOD2 Glu383Lys E383K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - NOD2 His496Leu H496L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.92 Y - 6 Y 5 N 10 - - NOD2 Leu469Phe L469F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.486 Y - 0 - 4 N 10 - - NODAL Arg183Gln R183Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.01 - - 0 - 2 N - - NODAL Gly260Arg G260R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - NOG Arg167Gly R167G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - NOG Arg204Leu R204L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - NOG Cys184Tyr C184Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 7 - - NOG Gln110Stop Q110X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - NOG Gly189Cys G189C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N 2 - - NOG Leu129Stop L129X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - NOG Pro35Ala P35A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 10 - - NOG Pro35Arg P35R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - NOG Pro35Ser P35S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - NOG Pro223Leu P223L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - NOG Trp205Cys W205C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - NOG Trp205Stop W205X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - NOG Trp217Gly W217G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - NOG Tyr222Asp Y222D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N - - NOG Tyr222Cys Y222C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - NOLA2 Tyr139His Y139H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 2 - - NOLA2 Val126Met V126M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 2 - - NOLA3 Arg34Trp R34W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 6 - - NOS3 Glu298Asp E298D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -2 - 3 N 9 - - NOTCH1 Arg1108Stop R1108X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - NOTCH2 Cys444Tyr C444Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - NOTCH3 Arg133Cys R133C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.862 Y Y 8 Y 6 N 10 - - NOTCH3 Arg169Cys R169C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 8 Y 6 N 10 - - NOTCH3 Arg182Cys R182C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y Y 8 Y 6 N 10 - - NOTCH3 Arg332Cys R332C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - NOTCH3 Cys455Arg C455R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - NOTCH3 Trp71Cys W71C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 2 - - NP Ala174Pro A174P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 10 - - NP Arg24Stop R24X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - NP Arg58Stop R58X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - NP Arg234Pro R234P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 8 - - NP Asp128Gly D128G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 3 - - NP Glu89Lys E89K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 10 - - NP Ser51Gly S51G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 8 - - NP Tyr192Cys Y192C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 3 - - NPC1 Ala1035Val A1035V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.337 Y Y 2 - 5 N 10 - - NPC1 Arg958Gln R958Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.939 Y Y 0 - 6 N 5 - - NPC1 Arg978Cys R978C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.613 Y Y 8 Y 5 N 10 - - NPC1 Asn1156Ser N1156S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - NPC1 Cys113Arg C113R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - NPC1 Cys177Tyr C177Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - NPC1 Gln928Pro Q928P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.053 Y Y 4 Y 4 N 2 - - NPC1 Gly992Arg G992R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.669 Y Y 6 Y 5 N 10 - - NPC1 Gly992Trp G992W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.812 Y Y 7 Y 5 N 10 - - NPC1 Ile1061Thr I1061T pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.035 Y Y 3 - 4 N 10 - - NPC1 Leu1213Phe L1213F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 2 - - NPC1 Pro1007Ala P1007A pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - NPC1 Thr1036Met T1036M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 6 - - NPC1 Tyr1088Cys Y1088C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 4 - - NPC1 Val378Ala V378A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.526 Y Y 2 - 5 N 7 - - NPC1 Val889Met V889M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.131 Y Y 0 - 4 N 5 - - NPC1 Val950Met V950M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 0 - 4 N 10 - - NPC1L1 Ile1233Asn I1233N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs52815063 106 10758 0.00985313 1 0 1 1 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - Wang et al. find this variant along with another nonsynonymous variant compound heterozygously in a hyperlipidemic patient that did not respond to ezetimibe. NPC1L1 Val55Leu V55L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - NPC2 Gln146Stop Q146X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - NPC2 Glu20Stop E20X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - NPC2 Glu118Stop E118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - NPC2 Pro120Ser P120S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 7 - - NPC2 Ser67Pro S67P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 3 - 6 N 10 - - NPC2 Val39Met V39M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 0 - 6 N 10 - - NPHP1 Gly343Arg G343R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - NPHP1 Leu27Stop L27X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - NPHP3 Arg577Stop R577X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - NPHP3 Arg973Gln R973Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 0 - 5 N - - NPHP3 Gln1114Stop Q1114X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - NPHP3 Glu461Stop E461X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - NPHP3 Ser360Thr S360T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.937 Y - -2 - 5 N 1 - - NPHP4 Arg658Stop R658X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NPHP4 Arg682Stop R682X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NPHP4 Gln779Stop Q779X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - NPHP4 Gln793Stop Q793X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NPHP4 Glu790Stop E790X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NPHP4 Phe991Ser F991S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 1 - - NPHS1 Arg1109Stop R1109X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - NPHS2 Arg138Gln R138Q pathogenic Insufficiently evaluated pathogenic unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - NPHS2 Arg138Stop R138X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - NPHS2 Arg291Trp R291W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 10 - - NPHS2 Asp160Gly D160G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - NPHS2 Gly92Cys G92C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.868 Y - 7 Y 5 N 10 - - NPHS2 Pro20Leu P20L pathogenic Insufficiently evaluated pathogenic unknown Array 30 8694 0.00345065 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.6 Y - 7 Y 4 N 10 - - NPHS2 Val180Met V180M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 0 - 5 N 10 - - NPR2 Arg388Stop R388X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - NPR2 Asp176Glu D176E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y - -2 - 5 N 4 - - NPR2 Pro32Thr P32T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 5 - - NPR2 Trp115Gly W115G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 7 Y 5 N 4 - - NR0B1 Arg267Pro R267P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - NR0B1 Asn440Ile N440I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 7 Y 6 N 10 - - NR0B1 Gln37Stop Q37X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - NR0B1 Gln283Stop Q283X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NR0B1 Gln395Stop Q395X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - NR0B1 Ile439Ser I439S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.908 Y Y 5 Y 6 N 10 - - NR0B1 Leu263Stop L263X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NR0B1 Leu297Pro L297P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 4 - - NR0B1 Leu381His L381H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 6 Y 6 N 8 - - NR0B1 Lys382Asn K382N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 1 - 6 N 2 - - NR0B1 Trp105Cys W105C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 7 - - NR0B1 Trp171Stop W171X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NR0B1 Trp235Stop W235X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - NR0B1 Trp291Cys W291C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - NR0B1 Trp369Stop W369X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NR0B1 Tyr91Stop Y91X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NR0B1 Tyr197Stop Y197X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - NR0B1 Tyr271Stop Y271X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - NR0B1 Tyr380Asp Y380D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - NR0B1 Tyr399Stop Y399X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - NR0B2 Ala195Ser A195S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.963 - - -1 - 4 N - - NR0B2 Arg34Stop R34X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NR2E3 Arg76Gln R76Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10250 0.000195121 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - NR2E3 Arg76Trp R76W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - NR2E3 Arg311Gln R311Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10084 0.000198333 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - NR2E3 Gly56Arg G56R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - NR3C1 Arg477His R477H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - NR3C1 Arg673Stop R673X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NR3C1 Asn363Ser N363S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs56149945 234 10758 0.0217513 4 0 5 0 0 - Y - - - - - - - - - - - Y - - 0.001 - - 0 - 2 N - - NR3C1 Asp641Val D641V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.042 - - 8 Y 2 N - - NR3C1 Cys436Stop C436X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NR3C1 Glu972Gly E972G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - NR3C1 Gly679Ser G679S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.988 - - 2 - 4 N - - NR3C1 Ile559Asn I559N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - NR3C1 Ile747Met I747M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.972 - - -1 - 4 N - - NR3C1 Leu753Phe L753F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.989 - - 0 - 4 N - - NR3C1 Leu773Pro L773P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.989 - - 7 Y 4 N - - NR3C1 Phe737Leu F737L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - NR3C1 Ser181Leu S181L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - NR3C1 Ser675Stop S675X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NR3C1 Val571Ala V571A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - NR3C2 Arg537Stop R537X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - NR3C2 Arg947Stop R947X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - NR3C2 Cys645Stop C645X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - NR3C2 Gln776Arg Q776R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - NR3C2 Gly633Arg G633R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 9 - - NR3C2 Leu924Pro L924P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - NR3C2 Leu979Pro L979P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - NR3C2 Ser163Stop S163X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - NR3C2 Ser810Leu S810L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - NR5A1 Arg92Gln R92Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 10 - - NR5A1 Arg255Leu R255L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.136 Y Y 6 Y 4 N 10 - - NR5A1 Asp293Asn D293N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 2 - - NR5A1 Cys16Stop C16X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - NR5A1 Gly35Glu G35E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.449 Y Y 6 Y 5 N 10 - - NR5A1 Gly91Ser G91S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.807 Y Y 2 - 5 N 10 - - NR5A1 Leu437Gln L437Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - NR5A1 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.673 Y Y -1 - 5 N 3 - - NR5A1 Met78Ile M78I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - NR5A1 Val15Met V15M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.789 Y Y 0 - 5 N 10 - - NRAS Gln61Arg Q61R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.04 - - 0 - 2 N - - NRAS Gly13Arg G13R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 6 Y 4 N - - NRAS Gly13Asp G13D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 4 Y 4 N - - NRL Leu160Pro L160P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 7 Y 5 N 10 - - NRL Ser50Thr S50T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - -2 - 5 N 10 - - NSD1 Arg1320Stop R1320X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - NSD1 Cys2183Ser C2183S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 6 - - NSD1 Cys2202Tyr C2202Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 2 - - NSD1 His2143Glu H2143E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 3 - - NSD1 Ser437Stop S437X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - NSDHL Ala105Val A105V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 2 - 5 N 7 - - NSDHL Ala182Pro A182P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.067 Y - 2 - 3 N 1 - - NSDHL Arg88Stop R88X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - NSDHL Gln210Stop Q210X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - NSDHL Glu151Stop E151X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - NSDHL Gly205Ser G205S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 6 - - NT5C3 Asn190Ser N190S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - NT5C3 Asp98Val D98V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - NT5C3 Gln177Stop Q177X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NT5C3 Gly241Arg G241R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - NT5C3 Tyr181Stop Y181X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - NTE Arg890His R890H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - NTF4 Ala88Val A88V pathogenic Insufficiently evaluated pathogenic unknown Array 25 10658 0.00234566 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 2 - 2 N - - NTF4 Arg206Gln R206Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.956 - - 0 - 4 N - - NTF4 Arg206Trp R206W pathogenic Insufficiently evaluated pathogenic unknown Array 5 10754 0.000464943 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 7 Y 4 N - - NTRK1 Arg774Pro R774P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - NTRK1 Gly571Arg G571R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 9 - - NTRK1 Met581Val M581V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - NTRK1 Pro689Leu P689L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - NTRK1 Tyr359Cys Y359C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - NTRK1 Tyr604His Y604H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - NTRK1 Val613Gly V613G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - Probably nonpathogenic polymorphism. The reference genome is G, so G613V is what is commonly reported. NUP62 Gln391Pro Q391P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 4 Y 4 N - - NYX Ala187Lys A187K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - NYX Arg94Pro R94P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.962 Y Y 5 Y 6 N 6 - - NYX Cys35Stop C35X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - NYX Ile101Thr I101T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 4 - - NYX Trp350Stop W350X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - OAS1 Ser162Gly S162G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - OAT Ala226Val A226V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 4 4 1 Y 1 Y - - - - 3 Y 4 Y Y Y - - 0.947 Y - 2 - 5 N 10 - - OAT Arg154Leu R154L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - OAT Arg180Thr R180T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 10 - - OAT Arg184Thr R184T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - OAT Arg250Pro R250P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 5 Y 5 N 1 - - OAT Arg270Pro R270P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - OAT Arg271Lys R271K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - -3 - 5 N - - OAT Arg396Stop R396X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - OAT Arg426Stop R426X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 4 4 2 Y 1 Y - - - - 3 Y 4 Y Y Y - - - Y - 10 Y 5 N - - OAT Asn54Lys N54K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 1 - 5 N 7 - - OAT Asn378Asn N378N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -11 - 4 N 5 - - OAT Cys93Phe C93F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.944 Y - 4 Y 5 N 4 - - OAT Cys394Arg C394R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 4 4 1 Y 1 Y - - - - 3 Y 4 Y Y Y - - 0.999 Y - 8 Y 5 N - - OAT Gln90Glu Q90E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -2 - 5 N 10 - - OAT Gly353Asp G353D pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N - - OAT Gly375Ala G375A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 1 - 5 N 1 - - OAT Gly401Stop G401X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - OAT His319Tyr H319Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 1 - - OAT Leu402Pro L402P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y - 7 Y 5 N 10 - - OAT Leu437Phe L437F pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 4 4 1 Y 1 Y - - - - 3 Y 4 Y Y Y - - 0.005 Y - 0 - 3 N 1 - - Computational analysis and functional analysis of OAT-L437F in yeast shows this to be a benign variant. OAT Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - -1 - 5 N 10 - - OAT Pro241Leu P241L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 7 Y 5 N - - OAT Pro417Leu P417L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 4 4 1 Y 1 Y - - - - 3 Y 4 Y Y Y - - 0.999 Y - 7 Y 5 N - - OAT Trp391Stop W391X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - OAT Tyr55His Y55H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -1 - 5 N 7 - - OAT Tyr209Stop Y209X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - OAT Tyr245Cys Y245C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N - - OAT Tyr299Stop Y299X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - OAT Val332Met V332M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 4 4 1 Y 1 Y - - - - 3 Y 4 Y Y Y - - 0.163 Y - 0 - 3 N 5 - - OBSL1 Arg489Stop R489X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - OBSL1 Cys383Stop C383X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - OCA2 Ala334Val A334V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 2 - 6 N 7 - - OCA2 Arg419Gln R419Q benign Low clinical importance, Likely benign unknown Array rs1800407 608 10758 0.0565161 3 0 3 1 1 1 Y - - 4 Y 0 Y - - - - Y Y - - 0.998 Y Y 0 - 5 Y 9 0 1 This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes). OCA2 Asn489Asp N489D pathogenic Insufficiently evaluated pathogenic unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 7 - - OCA2 Met394Ile M394I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 2 - - OCA2 Pro743Leu P743L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 7 - - OCA2 Trp679Cys W679C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 7 - - OCA2 Val443Ile V443I pathogenic Insufficiently evaluated pathogenic unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y -4 - 6 N 10 - - OCRL Arg301Cys R301C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - OCRL Arg577Gln R577Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - OCRL His601Gln H601Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - OCRL Tyr462Cys Y462C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - OGG1 Arg46Gln R46Q pathogenic Insufficiently evaluated pathogenic unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - OPA1 Arg290Gln R290Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 10 - - OPA1 Arg366Stop R366X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - OPA1 Arg445His R445H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - OPA1 Gly300Glu G300E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - OPA1 Tyr582Cys Y582C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 8 - - OPA3 Gln105Glu Q105E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.555 Y Y -2 - 5 N 4 - - OPA3 Gly93Ser G93S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.489 Y Y 2 - 5 N 4 - - OPCML Pro95Arg P95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - OPHN1 Gln62Stop Q62X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - OPTN Glu50Lys E50K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 0 - 5 N 10 - - OPTN Met98Lys M98K pathogenic Moderate clinical importance, Uncertain pathogenic unknown Array rs11258194 660 10758 0.0613497 6 0 6 3 3 0 Y - - 0 Y - - 3 Y 3 Y Y Y - - 0.031 Y - 4 Y Primary Open Angle Glaucoma (Adult Onset) 76 562 64 537 1.135 3 N 10 1 0 This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant. ORAI1 Arg91Trp R91W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - OSMR Gly618Ala G618A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 1 - 4 N - - OSMR Ile691Thr I691T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.926 - - 3 - 4 N - - OSTM1 Cys12Stop C12X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - OTC Arg26Gln R26Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - OTC Arg40Cys R40C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - OTC Arg40His R40H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.997 Y - 1 - 5 N 10 - - OTC Arg62Thr R62T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 0 - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 7 - - OTC Arg109Gln R109Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 0 - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - OTC Arg109Stop R109X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - OTC Arg129His R129H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.978 Y - 1 - 5 N 10 - - OTC Arg245Trp R245W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 0 - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - OTC Arg277Trp R277W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - OTC Gln216Glu Q216E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.049 Y - -2 - 3 N 1 - - OTC Glu87Lys E87K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.099 Y - 0 - 3 N 6 - - OTC Glu154Stop E154X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - OTC Gly47Glu G47E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 0 - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 7 - - OTC Gly50Stop G50X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - OTC Gly162Arg G162R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.994 Y - 6 Y 5 N - - OTC Leu45Pro L45P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.995 Y - 7 Y 5 N 4 - - OTC Leu111Pro L111P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 4 - - OTC Leu148Phe L148F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.652 Y - 0 - 4 N 1 - - OTC Leu272Phe L272F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 0 - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - OTC Met206Arg M206R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 6 - - OTC Pro225Leu P225L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.141 Y - 7 Y 3 N 9 - - OTC Tyr313Asp Y313D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - OTOF Gln829Stop Q829X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - OTOF Ile515Thr I515T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y Y 3 - 6 N 10 - - OTOF Leu1011Pro L1011P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 7 - - OTOF Pro50Arg P50R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - OTOF Pro1825Ala P1825A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 2 - 6 N 9 - - OTOF Tyr730Stop Y730X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - OTX2 Arg89Gly R89G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 5 - - OTX2 Tyr179Stop Y179X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - OXCT1 Cys456Phe C456F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 6 - - OXCT1 Gly219Glu G219E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 1 - - OXCT1 Gly324Glu G324E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.85 Y - 6 Y 5 N 1 - - OXCT1 Ser283Stop S283X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - OXCT1 Val221Met V221M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y - 0 - 3 N 1 - - P2RY12 Arg256Gln R256Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - P2RY12 Arg265Trp R265W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 7 Y 4 N - - P2RY5 Gln155Stop Q155X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - P2RY5 Glu189Lys E189K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - P2RY5 Gly146Arg G146R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - P2RY5 Ile188Phe I188F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - PABPN1 Gly12Ala G12A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - PAFAH1B1 Arg8Stop R8X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PAFAH1B1 Arg241Pro R241P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 5 Y 6 N 1 - - PAFAH1B1 Arg273Stop R273X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PAFAH1B1 Asp317His D317H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 5 - - PAFAH1B1 Gly162Ser G162S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 3 - - PAFAH1B1 His149Arg H149R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - PAFAH1B1 His277Pro H277P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N - - PAFAH1B1 Phe31Ser F31S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 1 - - PAFAH1B1 Ser169Pro S169P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 3 - 6 N 9 - - PAH Ala47Val A47V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y Y 2 - 4 N 10 - - PAH Ala259Val A259V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - PAH Ala322Gly A322G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.136 Y Y 1 - 4 N 10 - - PAH Arg111Stop R111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 1 Y - - - - - - 4 Y 5 Y Y Y - - - Y Y 10 Y 6 N 10 - - The PAH-R111X allele is found in clinical cases of phenylketonuria (PKU) identified by newborn screening among patients of Asian descent. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia. PAH Arg158Gln R158Q pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 3 3 1 Y 1 Y - - - - 4 Y 5 Y Y Y - - 1.0 Y Y 0 - 6 N 10 - - The PAH-R158Q allele was identified in a patient with phenylketonuria. The effect of this allele on enzyme function was demonstrated in a mammalian cell assay system. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia. PAH Arg176Leu R176L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.647 Y Y 6 Y 5 N 10 - - PAH Arg243Gln R243Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - PAH Arg243Stop R243X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAH Arg252Trp R252W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PAH Arg261Gln R261Q pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 1 1 1 Y 1 Y - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - Expression analysis in mammalian cells shows the PAH-R261Q allele to have no effect on the enzymatic function of PAH. Deficiency of this enzyme is associated with phenylketonuria (PKU). PAH Arg261Stop R261X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAH Arg408Gln R408Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - PAH Arg408Trp R408W pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 4 4 1 Y - - - - - - 4 Y 5 Y Y Y - - 1.0 Y Y 7 Y 6 N 10 - - The PAH-R408W allele is commonly found in clinical cases of phenylketonuria (PKU) identified by newborn screening. This allele makes up about 20% of mutant PAH alleles found in clinical cases of PKU in eastern Europe. If undiagnosed and untreated, phenylketonuria can result in impaired postnatal cognitive development resulting from a neurotoxic effect of hyperphenylalaninemia. PAH Arg413Pro R413P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y Y 5 Y 6 N 10 - - PAH Asp415Asn D415N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y -1 - 4 N 10 - - PAH Glu76Gly E76G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 6 Y 4 N 10 - - PAH Glu221Gly E221G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.768 Y Y 6 Y 5 N 5 - - PAH Glu280Lys E280K pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - PAH Glu390Gly E390G pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y Y 6 Y 6 N 10 - - PAH Gly46Ser G46S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.857 Y Y 2 - 6 N 10 - - PAH Gly272Stop G272X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAH Ile65Thr I65T pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 3 - 6 N 10 - - PAH Ile306Val I306V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.049 Y Y -4 - 4 N 10 - - PAH Leu48Ser L48S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 6 Y 6 N 10 - - PAH Leu98Ser L98S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.401 Y Y 6 Y 5 N 10 - - PAH Leu255Ser L255S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PAH Leu311Pro L311P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PAH Leu333Phe L333F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.654 Y Y 0 - 5 N 10 - - PAH Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y Y -1 - 4 N 10 - - PAH Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.027 Y Y 0 - 4 N 10 - - PAH Phe39Leu F39L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.847 Y Y 0 - 5 N 10 - - PAH Phe299Cys F299C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - PAH Pro244Leu P244L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PAH Pro281Leu P281L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PAH Pro407Leu P407L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.555 Y Y 7 Y 5 N 8 - - PAH Ser87Arg S87R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.01 Y Y 3 - 4 N 10 - - PAH Ser273Phe S273F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.432 Y Y 5 Y 5 N 10 - - PAH Ser349Arg S349R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N - - PAH Ser349Pro S349P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - PAH Ser359Stop S359X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - PAH Thr380Met T380M pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 2 - 6 N 10 - - PAH Trp326Stop W326X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAH Tyr204Cys Y204C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.452 Y Y 6 Y 5 N 10 - - PAH Tyr277Asp Y277D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PAH Tyr356Stop Y356X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAH Val245Ala V245A pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs62514943 7 10758 0.000650678 1 0 1 2 2 - - - - 4 Y - - 1 Y 0 Y Y Y - - 0.976 Y Y 2 - 6 N 10 0 0 This variant was found in combination with some other PAH variants in a few Danish cases of hyperphenylalaninemia. The mildly elevated phenylalanine levels of these cases are generally considered benign, dietary intervention is not usually recommended. PAH Val388Met V388M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.631 Y Y 0 - 5 N 10 - - PAK3 Ala365Glu A365E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - PAK3 Arg67Cys R67C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - PAK3 Arg419Stop R419X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - PAK3 Trp446Ser W446S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - PALB2 Gln988Stop Q988X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - PALB2 Tyr551Stop Y551X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PALB2 Tyr1183Stop Y1183X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 3 Y 2 Y - - - - 3 Y - - Y Y - - - Y Y 10 Y 6 N 10 - - A biallelic mutation in the partner and localizer of BRCA2 (PALB2) gene has severe phenotypic consequences in regards to childhood cancer susceptibility. PALB2 is a protein that associates with BRCA2 and participates in DNA damage response by promoting the association of BRCA2 with nuclear structures. The Y1183X variant located in exon 14 of the gene results in the truncation of the protein and subsequent loss of binding affinity to BRCA2. The disruption of this protein-protein interaction most likely leads to a decreased ability to monitor DNA damage, resulting in increased susceptibility to cancer. This variation is familial. PALLD Pro239Ser P239S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - PANK2 Arg154Trp R154W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - PANK2 Arg168Cys R168C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - PANK2 Arg176Cys R176C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 3 - - PANK2 Arg371Stop R371X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - PANK2 Gly411Arg G411R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - PANK2 Met327Thr M327T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - PANK2 Ser68Stop S68X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - PANK2 Ser240Pro S240P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - PANK2 Ser361Asn S361N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - PANK2 Thr124Ala T124A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 2 - - PANK2 Thr418Met T418M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - PANK2 Tyr80Stop Y80X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PAPSS2 Arg329Stop R329X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PAPSS2 Ser438Stop S438X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PAPSS2 Thr48Arg T48R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.991 - - 3 - 4 N - - PARK2 Ala82Glu A82E benign Low clinical importance, Likely benign undefined Array 17 10758 0.00158022 0 0 0 1 0 2 Y - - 5 Y - - - - - - Y Y - - - Y Y 3 - 5 N 10 0 1 Reported to cause early onset Parkinson disease in a recessive fashion, as reported to ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000007454/). This report comes from Hedrich et al 2001 (PMID: 11487568), where a study of 21 patients found this substitution variant homozygous in one patient, but coupled with another more severe variant (homozygous deletion of exon 7). It is highly likely that this variant was coincidentally observed, and its relatively high allele frequency in ExAC data (0.5%) also strongly contradicts a serious effect. As such, this reported effect should be considered disproven, or potentially misreported by OMIM to ClinVar. PARK2 Arg275Trp R275W pathogenic Insufficiently evaluated pathogenic unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.969 Y Y 7 Y 6 N 10 - - PARK2 Cys212Tyr C212Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - PARK2 Gln311Stop Q311X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PARK2 Lys161Asn K161N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - PARK2 Lys211Asn K211N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.439 Y Y 1 - 5 N 10 - - PARK2 Thr240Arg T240R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - PARK2 Thr240Met T240M pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 2 - 4 N 10 - - PARK2 Trp453Stop W453X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - PARK2 Val56Glu V56E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.134 Y Y 5 Y 4 N 10 - - PAX2 Arg71Thr R71T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 Y Y 3 - 4 N 9 - - PAX2 Gly75Ser G75S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 3 - - PAX3 Asn47His N47H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - PAX3 Asn47Lys N47K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - PAX3 Gly48Ala G48A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 5 - - PAX3 Pro50Leu P50L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 6 - - PAX3 Ser84Phe S84F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - PAX3 Tyr90His Y90H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - PAX4 Arg37Trp R37W pathogenic Insufficiently evaluated pathogenic unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - PAX4 Arg64Trp R64W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - PAX4 Arg121Trp R121W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - PAX4 Arg133Trp R133W pathogenic Insufficiently evaluated pathogenic unknown Array rs2233578 340 10758 0.0316044 2 0 2 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N 9 - - PAX6 Arg24Thr R24T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - PAX6 Arg26Gly R26G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PAX6 Arg103Stop R103X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - PAX6 Arg125Cys R125C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 5 - - PAX6 Arg203Stop R203X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAX6 Arg240Stop R240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAX6 Gln116Stop Q116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - PAX6 Gln205Stop Q205X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PAX6 Gly64Val G64V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - PAX6 Phe258Ser F258S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y Y 5 Y 6 N 8 - - PAX6 Pro68Ser P68S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 3 - - PAX6 Ser119Arg S119R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 4 - - PAX6 Ser353Stop S353X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PAX6 Thr391Ala T391A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 5 - - PAX6 Trp257Stop W257X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PAX6 Val54Asp V54D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - PAX6 Val126Asp V126D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - PAX8 Arg31His R31H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - PAX8 Arg108Stop R108X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - PAX8 Cys57Tyr C57Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - PAX8 Gln40Pro Q40P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.854 Y - 4 Y 5 N 10 - - PAX8 Leu62Arg L62R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 6 Y 5 N 10 - - PAX8 Phe329Leu F329L pathogenic Insufficiently evaluated pathogenic unknown Array 196 9804 0.0199918 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.018 Y - 0 - 3 N 10 - - PAX8 Ser48Phe S48F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - PAX8 Ser54Gly S54G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 2 - 5 N 10 - - PAX9 Arg26Trp R26W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - PAX9 Arg28Pro R28P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - PAX9 Arg47Trp R47W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - PAX9 Gly51Ser G51S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y - 2 - 5 N 6 - - PAX9 Ile87Phe I87F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 2 - 5 N 2 - - PAX9 Leu21Pro L21P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 7 Y 5 N 8 - - PAX9 Lys91Glu K91E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 5 - - PAX9 Lys114Stop K114X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - PC Ala610Thr A610T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - PC Arg156Gln R156Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 5 - - PC Arg451Cys R451C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - PC Arg583Leu R583L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N - - PC Met743Ile M743I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 9 - - PC Val145Ala V145A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.843 Y Y 2 - 5 N 10 - - PCBD1 Cys82Arg C82R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 8 Y 5 N 1 - - PCBD1 Gln97Stop Q97X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PCBD1 Glu86Stop E86X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PCBD1 Glu87Stop E87X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PCBD1 Thr78Ile T78I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - PCCA Arg288Stop R288X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - PCCA Met348Lys M348K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 8 - - PCCB Arg412Trp R412W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - PCCB Glu168Lys E168K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 10 - - PCCB Thr428Ile T428I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - PCCB Tyr435Cys Y435C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - PCDH15 Arg3Stop R3X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PCDH15 Arg134Gly R134G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - PCDH15 Arg245Stop R245X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PCDH15 Gly262Asp G262D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 10 - - PCDH15 Ser647Stop S647X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PCDH19 Gln85Stop Q85X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PCDH19 Glu48Stop E48X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PCDH19 Ser671Stop S671X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PCDH19 Val441Glu V441E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 5 Y 5 N - - PCNT2 Arg1923Stop R1923X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 2 - - PCNT2 Arg2918Stop R2918X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PCNT2 Glu220Stop E220X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PCNT2 Glu1037Stop E1037X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PCSK1 Glu250Stop E250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PCSK1 Gly483Arg G483R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - PCSK1 Ser307Leu S307L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 2 - - PCSK9 Arg46Leu R46L protective Moderate clinical importance, Likely protective unknown Array rs11591147 108 10652 0.0101389 1 0 1 1 1 2 Y - - 4 Y - - 4 Y 4 - Y Y Y - 0.099 Y - 6 Y 3 N 10 1 1 This variant is reported to have a dominant protective effect against coronary heart disease. Carriers of this variant have about half the risk of coronary heart disease compared to non-carriers (6.3% risk in carriers vs. 11.8% risk in non-carriers). PCSK9 Asp374Tyr D374Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 7 Y 5 N 10 - - PCSK9 Cys679Stop C679X pathogenic Insufficiently evaluated pathogenic unknown Array 29 10736 0.00270119 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - PCSK9 Phe216Leu F216L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y - 0 - 5 N 10 - - PCSK9 Ser127Arg S127R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.148 Y - 3 - 3 N 10 - - PDE11A Arg307Stop R307X pathogenic Low clinical importance, Likely pathogenic unknown Array 44 10756 0.00409074 0 0 0 2 2 2 Y - - 5 Y 0 Y 5 Y 1 - - Y - - - - - 10 Y 4 N 0 1 May cause increased risk of Cushing Syndrome and/or adrenocortical tumors. If this hypothesis is true, it is unclear how strong the effect of this variant would be -- the variant is predicted to be very disruptive. PDE6A Ser344Arg S344R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - PDE6A Trp561Stop W561X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - PDE6A Tyr583Stop Y583X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PDE6B Arg531Stop R531X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PDE6B Gln298Stop Q298X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PDE6B His258Asn H258N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - PDE6B His557Tyr H557Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 2 - - PDE6B Trp807Arg W807R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - PDE6C Arg29Trp R29W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.986 - - 7 Y 4 N - - PDE6C Met455Val M455V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.974 - - 0 - 4 N - - PDE6C Tyr323Asn Y323N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 5 Y 4 N - - PDE8B His305Pro H305P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.964 - - 5 Y 4 N - - PDGFRA Asp842Val D842V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - PDGFRA Asp846Tyr D846Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - PDGFRA Thr674Ile T674I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - PDGFRA Tyr555Cys Y555C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - PDGFRA Val561Asp V561D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - PDGRL His23Tyr H23Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - PDHA1 Arg10Pro R10P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.778 Y - 5 Y 4 N 10 - - PDHA1 Arg234Gly R234G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - PDHA1 Arg263Gly R263G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - PDHA1 Arg288His R288H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 4 - - PDHA1 Arg302Cys R302C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - PDHA1 Arg378His R378H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 8 - - PDHA1 Asp258Ala D258A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N - - PDHA1 Asp315Asn D315N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - -1 - 5 N 3 - - PDHA1 Leu216Phe L216F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y - 0 - 5 N 8 - - PDHA1 Phe205Leu F205L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.884 Y - 0 - 5 N 10 - - PDHA1 Tyr243Asn Y243N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 5 Y 5 N 3 - - PDHB Pro344Ser P344S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - PDHB Tyr132Cys Y132C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - PDHX Gln248Stop Q248X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PDSS1 Asp308Glu D308E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -2 - 5 N 10 - - PDSS2 Gln322Stop Q322X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PDSS2 Ser382Leu S382L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 6 Y 5 N 1 - - PEPD Arg154Gln R154Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - PEPD Arg265Stop R265X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10058 9.9423e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 6 - - PEPD Asp276Asn D276N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - -1 - 4 N - - PEPD Gly278Asp G278D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 4 Y 4 N 7 - - PEPD Gly448Arg G448R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 6 Y 4 N 10 - - PER2 Ser662Gly S662G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 2 - 4 N - - PEX1 Gly843Asp G843D pathogenic Insufficiently evaluated pathogenic unknown Array rs61750420 6 10758 0.000557724 1 0 1 3 2 1 Y - - - - - - 5 Y 1 Y Y Y - - 0.998 Y Y 4 Y 6 N 10 - - PEX1 Leu664Pro L664P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 7 Y 6 N 10 - - PEX10 Arg125Stop R125X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10738 9.3127e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - PEX10 His290Gln H290Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - PEX12 Arg91Ser R91S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 1 - - PEX12 Arg180Stop R180X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PEX12 Leu317Phe L317F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 0 - 6 N - - PEX12 Lys231Stop K231X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PEX12 Ser320Phe S320F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.426 Y Y 5 Y 5 N 10 - - PEX13 Ile326Thr I326T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.134 Y Y 3 - 4 N 10 - - PEX13 Trp234Stop W234X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PEX14 Gln185Stop Q185X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - PEX16 Arg176Stop R176X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PEX26 Arg98Trp R98W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - PEX26 Gly89Arg G89R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - PEX26 Leu45Pro L45P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 5 - - PEX26 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 5 - - PEX5 Arg390Stop R390X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PEX5 Asn489Lys N489K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - PEX7 Ala218Val A218V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y 2 - 4 N 10 - - PEX7 Arg232Stop R232X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - PEX7 Gly217Arg G217R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 6 Y 6 N 10 - - PEX7 Leu292Stop L292X pathogenic Insufficiently evaluated pathogenic recessive Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - Rhizomelic Chondrodysplasia Punctata Type 1 PEX7 Thr14Pro T14P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.078 Y Y 4 Y 4 N 9 - - PEX7 Tyr40Stop Y40X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - PEX7 Tyr115Stop Y115X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PFC Arg73Trp R73W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - PFC Arg134Stop R134X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PFC Gly271Val G271V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 1 - - PFC Ser179Stop S179X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PFC Tyr387Asp Y387D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N - - PFKM Arg39Leu R39L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 3 - - PFKM Arg39Pro R39P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.54 Y - 5 Y 4 N 2 - - PFKM Arg95Stop R95X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PFKM Asp543Ala D543A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 3 - - PFKM Trp686Cys W686C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 10 - - PGAM2 Arg90Trp R90W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.497 Y - 7 Y 4 N - - PGAM2 Glu89Ala E89A pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 3 - 5 N - - PGAM2 Trp78Stop W78X pathogenic Insufficiently evaluated pathogenic unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PGK1 Arg206Pro R206P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.649 Y - 5 Y 4 N 3 - - PGK1 Asp164Val D164V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 2 - - PGK1 Asp268Asn D268N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 2 - - PGK1 Asp285Val D285V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - PGK1 Cys315Arg C315R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - PGK1 Gly157Val G157V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - PGK1 Ile46Asn I46N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - PGK1 Ile252Thr I252T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - PGK1 Leu88Pro L88P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.926 Y - 7 Y 5 N 1 - - PGK1 Ser319Asn S319N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - PGK1 Thr352Asn T352N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.91 Y - 1 - 5 N - - PGK1 Thr378Pro T378P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - PGK1 Val266Met V266M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.117 Y - 0 - 3 N 2 - - PGM1 Thr115Ala T115A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.989 - - 1 - 4 N - - PHB Arg105His R105H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - PHB Val88Ala V88A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.088 - - 2 - 2 N - - PHEX Arg567Stop R567X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - PHEX Cys82Tyr C82Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - PHEX Leu274Stop L274X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PHEX Leu555Pro L555P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 7 Y 5 N - - PHF6 Arg257Gly R257G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 4 - - PHF6 Arg342Stop R342X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - PHF6 Cys45Tyr C45Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 4 - - PHF6 Cys99Phe C99F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 5 - - PHF6 His229Arg H229R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 1 - 5 N 2 - - PHF6 Lys8Stop K8X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - PHF6 Lys234Glu K234E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.935 Y - 0 - 5 N 2 - - PHF6 Met1Tyr M1Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 4 - - PHF8 Arg211Stop R211X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PHF8 Lys177Stop K177X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PHF8 Phe279Ser F279S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - PHGDH Val425Met V425M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 Y - 0 - 4 N 6 - - PHGDH Val490Met V490M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.028 Y - 0 - 3 N 10 - - PHKA1 Asp299Val D299V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 8 Y 5 N 9 - - PHKA1 Glu1112Stop E1112X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PHKA1 Gly223Arg G223R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.201 Y - 6 Y 4 N 1 - - PHKA2 Arg186His R186H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - PHKA2 Arg556Cys R556C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - PHKA2 Asp299Gly D299G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 4 Y 5 N 7 - - PHKA2 Gln766Stop Q766X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PHKA2 Gln1009Stop Q1009X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PHKA2 His132Pro H132P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 6 - - PHKA2 His132Tyr H132Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 6 - - PHKA2 Lys189Glu K189E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 7 - - PHKA2 Pro1205Leu P1205L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 3 - - PHKA2 Ser1049Stop S1049X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PHKA2 Thr1114Ile T1114I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 5 - - PHKB Ala117Pro A117P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - PHKB Gln656Stop Q656X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PHKB Tyr418Stop Y418X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PHKG2 Arg44Stop R44X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PHKG2 Gly189Glu G189E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 9 - - PHKG2 His144Tyr H144Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - PHKG2 Leu225Arg L225R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - PHKG2 Val106Glu V106E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 5 Y 5 N 9 - - PHOX2B Arg100Leu R100L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.805 Y Y 6 Y 5 N 10 - - PHOX2B Arg141Gly R141G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 6 Y 6 N 9 - - PHOX2B Gly197Asp G197D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - PHYH Arg275Gln R275Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 6 - - PHYH Arg275Trp R275W pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 6 - - PHYH Asn269His N269H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 7 - - PHYH Gln176Lys Q176K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -2 - 6 N 8 - - PHYH Gly204Ser G204S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 7 - - PI Ala213Val A213V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 4 - - PI Asp256Val D256V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 7 - - PI Glu363Lys E363K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 5 - - PI Gly115Ser G115S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N 10 - - PI Ile92Asn I92N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - PI Leu353Phe L353F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - PI Met358Arg M358R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 10 - - PI Ser53Phe S53F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - PI12 Gly392Arg G392R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N - - PI12 Gly392Glu G392E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 9 - - PI12 His338Arg H338R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 4 - - PI12 Ser49Pro S49P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - PI12 Ser52Arg S52R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - PIGA Gln55Stop Q55X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PIGA Tyr98Stop Y98X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PIK3CA Gln546Glu Q546E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.821 - - -2 - 3 N - - PIK3CA Gln546Lys Q546K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - -2 - 4 N - - PIK3CA Glu545Ala E545A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 3 - 4 N - - PIK3CA Glu545Gly E545G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - PIK3CA Glu545Lys E545K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - 0 - 4 N - - PIK3CA His1047Arg H1047R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 1 - 4 N - - PIK3CA His1047Leu H1047L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - PINK1 Ala217Asp A217D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 5 Y 6 N 10 - - PINK1 Arg246Stop R246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PINK1 Arg279His R279H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.912 Y Y 1 - 6 N 10 - - PINK1 Gln456Stop Q456X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PINK1 Gly309Asp G309D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - PINK1 His271Gln H271Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - PINK1 Leu347Pro L347P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - PINK1 Pro399Leu P399L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y Y 7 Y 6 N 6 - - PINK1 Thr313Met T313M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - PINK1 Trp437Stop W437X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PINK1 Tyr431His Y431H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 9 - - PIP5K1C Asp253Asn D253N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - -1 - 4 N - - PIP5K3 Gln988Stop Q988X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 9 - - PIP5K3 Lys1103Arg K1103R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -3 - 3 N 9 - - PITPNM3 Gln626His Q626H pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 29 10758 0.00269567 1 0 1 2 2 0 Y - - 0 Y 2 Y 3 Y 0 - Y Y - - - Y - -1 - 4 N 10 1 0 This variant is reported to cause cone dystrophy in a dominant manner (defective colour vision, impaired central visual acuity and sensitivity to light). Although the authors reporting this variant are confident in it having a pathogenic effect, observations lack statistical significance. The variant is found in whole genome sequencing from a HapMap individual (GM06985) -- assuming these individuals are all healthy, this would imply the variant is not pathogenic, but we are unable to follow up with the individual to confirm that there are no symptoms. PITX1 Glu230Lys E230K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - PITX2 Arg46Trp R46W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - PITX2 Arg62His R62H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - PITX2 Arg70His R70H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - PITX2 Arg91Pro R91P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - PITX2 Leu54Gln L54Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - PITX2 Thr68Pro T68P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - PITX2 Trp133Stop W133X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PITX2 Val45Leu V45L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - PITX3 Ser13Asn S13N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.84 Y Y 0 - 5 N 10 - - PKD1 Arg324Leu R324L pathogenic Insufficiently evaluated pathogenic unknown Array 12 9010 0.00133185 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.922 Y Y 6 Y 6 N 7 - - PKD1 Arg4227Stop R4227X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PKD1 Cys4086Stop C4086X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - PKD1 Gln1273Stop Q1273X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PKD1 Gln1922Stop Q1922X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PKD1 Gln3837Stop Q3837X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PKD1 Leu845Ser L845S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 4 - - PKD1 Trp4139Stop W4139X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PKD1 Tyr3818Stop Y3818X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PKD2 Arg464Stop R464X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PKD2 Arg742Stop R742X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PKD2 Asp511Val D511V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 8 Y 6 N 10 - - PKD2 Gln405Stop Q405X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PKD2 Trp380Stop W380X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PKHD1 Arg496Stop R496X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PKHD1 Arg2671Stop R2671X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - PKHD1 Ile3553Thr I3553T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - PKHD1 Ser1664Phe S1664F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 6 - - PKHD1 Ser3018Phe S3018F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 5 - - PKHD1 Thr36Met T36M pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - PKHD1 Val1741Met V1741M pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - PKHD1 Val3471Gly V3471G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - PKLR Arg132Cys R132C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - PKLR Arg479His R479H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.098 Y - 1 - 3 N 10 - - PKLR Arg486Trp R486W pathogenic Insufficiently evaluated pathogenic unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y - 7 Y 5 N 10 - - PKLR Arg510Gln R510Q pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 0 - 5 N 10 - - PKLR Gln421Lys Q421K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y - -2 - 5 N 2 - - PKLR Gly37Gln G37Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - PKLR Ser130Tyr S130Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.846 Y - 5 Y 4 N 3 - - PKLR Thr353Met T353M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - PKLR Thr384Met T384M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 2 - - PKP1 Gln304Stop Q304X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PKP2 Arg79Stop R79X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PKP2 Arg735Stop R735X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PLA2G4A Arg485His R485H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - PLA2G4A Ser111Pro S111P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.092 - - 3 - 2 N - - PLA2G6 Ala80Thr A80T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.052 Y Y 1 - 4 N 3 - - PLA2G6 Arg632Trp R632W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PLA2G6 Arg741Gln R741Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.947 Y Y 0 - 6 N 1 - - PLA2G6 Arg747Trp R747W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 1 - - PLA2G6 Lys545Thr K545T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 2 - - PLA2G6 Tyr790Stop Y790X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - PLA2G6 Val310Glu V310E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 5 Y 6 N 3 - - PLA2G7 Ala379Val A379V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - PLAU Pro141Leu P141L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - PLCE1 Arg493Stop R493X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PLCE1 Arg1116Stop R1116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PLCE1 Gln1616Stop Q1616X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - PLCE1 Gln1854Stop Q1854X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PLCE1 Ser1484Leu S1484L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y - 6 Y 5 N 2 - - PLEC1 Arg2110Trp R2110W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - PLEC1 Arg3029Stop R3029X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - PLEC1 Gln305Stop Q305X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PLEKHG5 Phe647Ser F647S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - PLG Ala601Thr A601T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - PLG Arg216His R216H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - PLG Glu460Stop E460X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PLG Gly732Arg G732R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - PLG Lys19Glu K19E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - PLG Ser572Pro S572P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - PLG Trp597Stop W597X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PLG Val355Phe V355F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - PLI Val384Met V384M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - PLN Arg9Cys R9C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.636 Y Y 8 Y 5 N 10 - - PLN Leu39Stop L39X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - PLOD1 Arg319Stop R319X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - PLOD1 Arg670Stop R670X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - PLOD1 Gly678Arg G678R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N - - PLOD1 Trp612Cys W612C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - PLOD1 Tyr511Stop Y511X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - PLOD2 Arg598His R598H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N - - PLOD2 Gly601Val G601V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.959 Y - 8 Y 5 N - - PLOD2 Thr608Ile T608I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N - - PLOD3 Asn223Ser N223S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.913 - - 0 - 4 N - - PLP1 Ala242Val A242V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.548 Y Y 2 - 5 N 10 - - PLP1 Arg137Trp R137W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N 2 - - PLP1 Asp57Tyr D57Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 7 Y 6 N - - PLP1 Asp202His D202H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - PLP1 Gly73Arg G73R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - PLP1 Gly220Cys G220C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - PLP1 His139Tyr H139Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - PLP1 Ile186Thr I186T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - PLP1 Leu223Pro L223P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - PLP1 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y Y -1 - 6 N 9 - - PLP1 Phe236Ser F236S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 7 - - PLP1 Pro14Leu P14L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - PLP1 Pro215Ser P215S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - PLP1 Ser169Phe S169F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - PLP1 Thr42Ile T42I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 3 - - PLP1 Thr155Ile T155I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - PLP1 Thr181Pro T181P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N - - PLP1 Trp144Stop W144X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PLP1 Trp162Arg W162R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 1 - - PLP1 Val218Phe V218F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - PMM2 Arg141His R141H pathogenic High clinical importance, Uncertain pathogenic recessive Array 43 10744 0.00400223 0 0 0 0 0 1 - - - 3 - - - 4 - 1 - Y Y - - 0.551 Y Y 1 - 5 N 10 2 0 Several different genetic testing groups report this variant causes Carbohydrate-deficient glycoprotein syndrome type I, as recorded in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008145/). ExAC allele frequency data appears to contradict this, as the allele frequency is relatively high: according to their data, 1 in 8,000 with European descent are expected to be homozygous. This seems to be more common than the disease itself, and would seem to contradict this reported effect. However, ExAC data also indicates this may be a low-quality site for sequencing (which may affect ExAC data, and other exome or whole genome data). PMM2 Arg162Trp R162W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y Y 7 Y 6 N 8 - - PMM2 Asn216Ile N216I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y Y 7 Y 6 N 10 - - PMM2 Asp65Tyr D65Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PMM2 Asp188Gly D188G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.83 Y Y 4 Y 5 N 10 - - PMM2 Asp223Glu D223E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y -2 - 6 N 10 - - PMM2 Cys9Tyr C9Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - PMM2 Cys241Ser C241S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - PMM2 Gly117Arg G117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PMM2 Ile132Thr I132T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 5 - - PMM2 Leu32Arg L32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 6 Y 6 N 10 - - PMM2 Phe119Leu F119L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - PMM2 Pro113Leu P113L pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PMM2 Thr226Ser T226S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.468 Y Y -2 - 5 N 10 - - PMM2 Thr237Arg T237R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - PMM2 Val44Ala V44A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - PMM2 Val129Met V129M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.793 Y Y 0 - 5 N 10 - - PMM2 Val231Met V231M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.604 Y Y 0 - 5 N 10 - - PMP22 Ala67Pro A67P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.037 Y Y 2 - 4 N 8 - - PMP22 Ala67Thr A67T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.852 Y Y 1 - 6 N 4 - - PMP22 Arg157Trp R157W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - PMP22 Asp37Val D37V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 4 - - PMP22 Gly150Cys G150C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 1 - - PMP22 His12Gln H12Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.058 Y Y -1 - 4 N 5 - - PMP22 Leu16Pro L16P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.058 Y Y 7 Y 4 N 10 - - PMP22 Met69Lys M69K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 6 - - PMP22 Ser22Phe S22F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.954 Y Y 5 Y 6 N 5 - - PMP22 Ser72Leu S72L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - PMP22 Ser79Cys S79C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y 3 - 6 N 10 - - PMP22 Thr118Met T118M pathogenic Insufficiently evaluated pathogenic unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - PMP22 Trp28Arg W28R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PMS1 Gln233Stop Q233X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PMS2 Arg134Stop R134X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PMS2 Arg628Stop R628X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PMS2 Arg802Stop R802X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PMS2 Cys73Stop C73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PMS2 Ser46Ile S46I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - PNPLA2 Gln289Stop Q289X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PNPLA2 Pro195Leu P195L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 3 - - PNPLA6 Met1012Val M1012V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - PNPO Ala174Stop A174X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - PNPO Arg229Trp R229W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - POLG Ala467Thr A467T pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y - 1 - 5 N 10 - - POLG Ala957Ser A957S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -1 - 5 N 10 - - POLG Arg3Pro R3P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.863 Y - 5 Y 5 N 10 - - POLG Arg227Trp R227W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 4 - - POLG Arg627Trp R627W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - POLG Arg853Trp R853W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - POLG Asn864Ser N864S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.903 Y - 0 - 5 N 7 - - POLG Gln497His Q497H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.917 Y - -1 - 5 N 10 - - POLG Glu873Stop E873X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - POLG Gly737Arg G737R pathogenic High clinical importance, Uncertain pathogenic recessive Array 19 10758 0.00176613 0 0 0 1 1 2 Y - - 0 Y - - 4 - 1 - Y Y - - 0.978 Y - 6 Y 5 N 10 2 0 Reported in a single case of two sisters with early-onset parkinsonianism. Hypothesized to cause their disease in a recessive manner, but no statistical significance. POLG Gly848Ser G848S pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 10 - - POLG Gly1051Arg G1051R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y - 6 Y 5 N 4 - - POLG His932Tyr H932Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 3 - - POLG Leu304Arg L304R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 6 Y 5 N 10 - - POLG Pro587Leu P587L pathogenic Insufficiently evaluated pathogenic unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - POLG Ser511Asn S511N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.293 Y - 0 - 4 N 5 - - POLG Thr251Ile T251I pathogenic Insufficiently evaluated pathogenic unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 3 - 3 N 10 - - POLG Trp748Ser W748S pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - POLG Trp1020Stop W1020X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - POLG Tyr831Cys Y831C benign Low clinical importance, Uncertain benign unknown Array rs41549716 86 10758 0.00799405 2 0 2 2 2 ! Y - - 1 Y - Y - - - - Y Y - - 0.991 Y - 6 Y 5 N 10 0 0 A rare polymorphism in POLG, probably benign. A small study of a nuclear family hypothesized it was causing Parkinson disease, but a later study found no significant difference in incidence between cases (1/140) and controls (5/127). POLG Tyr955Cys Y955C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - POLG2 Gly451Glu G451E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - POLH Glu306Stop E306X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - POLH Lys535Glu K535E pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 - Y 0 - 5 N 4 - - POLH Lys589Thr K589T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 3 - 4 N 1 - - POLH Val125Stop V125X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - POLH Val372Stop V372X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - POMC Arg236Gly R236G pathogenic Insufficiently evaluated pathogenic unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - POMC Glu79Stop E79X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - POMC Lys25Stop K25X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - POMGNT1 Arg63Stop R63X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - POMGNT1 Arg311Gln R311Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 5 - - POMGNT1 Arg442Cys R442C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 8 - - POMGNT1 Pro493Arg P493R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 4 - - POMGNT1 Ser550Asn S550N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y - 0 - 3 N 4 - - POMT1 Ala200Pro A200P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.935 Y - 2 - 5 N 10 - - POMT1 Ala669Thr A669T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.922 Y - 1 - 5 N 1 - - POMT1 Arg514Stop R514X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - POMT1 Arg541Stop R541X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - POMT1 Gln303Stop Q303X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - POMT1 Gln590His Q590H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.511 Y - -1 - 4 N 1 - - POMT1 Gly65Arg G65R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.6 Y - 6 Y 4 N 3 - - POMT1 Gly76Arg G76R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y - 6 Y 4 N 2 - - POMT1 Trp582Cys W582C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.925 Y - 7 Y 5 N 2 - - POMT2 Arg638Stop R638X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - PON2 Cys311Ser C311S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - POR Ala284Pro A284P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - POR Ala287Pro A287P pathogenic Insufficiently evaluated pathogenic unknown Array 4 10280 0.000389105 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - POR Arg457His R457H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - POR Cys566Tyr C566Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 8 - - POR Cys569Tyr C569Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - POR Gly539Arg G539R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - POR Tyr178Asp Y178D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - POR Tyr578Cys Y578C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - POR Val492Glu V492E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - POR Val608Phe V608F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - PORCN Arg124Stop R124X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - PORCN Trp74Stop W74X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - POU1F1 Ala158Pro A158P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y - 2 - 5 N 10 - - POU1F1 Arg143Gln R143Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.975 Y - 0 - 5 N 10 - - POU1F1 Arg172Gln R172Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - POU1F1 Arg172Stop R172X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - POU1F1 Arg271Trp R271W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - POU1F1 Glu230Lys E230K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 0 - 5 N 10 - - POU1F1 Glu250Stop E250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - POU1F1 Lys145Stop K145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - POU1F1 Phe135Cys F135C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 4 Y 5 N 10 - - POU1F1 Pro24Leu P24L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - POU1F1 Pro239Ser P239S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - POU1F1 Ser179Arg S179R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - POU1F1 Trp193Arg W193R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - POU3F4 Arg323Gly R323G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 3 - - POU3F4 Arg330Ser R330S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 3 - - POU3F4 Asp215Stop D215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - POU3F4 Leu298Stop L298X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - POU3F4 Leu317Trp L317W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 3 - - POU3F4 Lys202Stop K202X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - POU3F4 Lys334Glu K334E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y - 0 - 5 N 4 - - POU4F3 Leu223Pro L223P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 7 Y 5 N 10 - - POU4F3 Leu298Phe L298F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - POU6F2 Gln184His Q184H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - PPARBC1B Ala203Pro A203P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - PPARG Arg194Trp R194W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - PPARG Arg288His R288H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - PPARG Arg425Cys R425C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - PPARG Cys190Ser C190S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - PPARG Gln286Pro Q286P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - PPARG His449His H449H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -13 - 4 N 10 - - PPARG Lys319Stop K319X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - PPARG Phe388Leu F388L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - PPARG Pro115Gln P115Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - PPARG Pro467Leu P467L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PPARG Val290Met V290M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - PPARG2 Pro12Ala P12A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - PPIB Gln151Stop Q151X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PPOX Arg59Trp R59W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - PPOX Arg168Cys R168C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.386 Y - 8 Y 4 N 10 - - PPOX Arg168His R168H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - PPOX Asp349Ala D349A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 8 - - PPOX Gly232Arg G232R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - PPOX His20Pro H20P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y - 5 Y 5 N 10 - - PPOX Ile12Thr I12T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 10 - - PPP1R3 Asp905Tyr D905Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - PPP2R1B Gly90Asp G90D pathogenic Insufficiently evaluated pathogenic dominant Array rs1805076 86 10758 0.00799405 1 0 1 2 2 1 Y 1 Y 2 Y 1 Y 3 - - - - Y - - - - - 4 Y 3 N - - Associated with increased incidence of cancer. PPT1 Arg122Trp R122W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PPT1 Arg151Stop R151X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PPT1 Asp79Gly D79G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 8 - - PPT1 Cys45Tyr C45Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N - - PPT1 Gly108Arg G108R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - PPT1 Leu10Stop L10X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - PPT1 Leu219Gln L219Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 8 - - PPT1 Thr75Pro T75P pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 2 Y - - 5 Y - - 5 - 1 - Y Y - - 0.005 Y Y 4 Y 4 N 10 2 1 Reported to cause neuronal ceroid lipofuscinosis, a neurodegenerative disorder, in a recessive manner. This assertion is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000009451/), and comes from Mitchison et al 1998 (PMID: 9425237). Mitchison et al report this variant was seen in 8 of 22 patients studied, once homozygous and others compound heterozygous. PQBP1 Tyr65Cys Y65C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - PRB3 Arg15Cys R15C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - PRCD Cys2Tyr C2Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.969 - - 6 Y 4 N - - PRF1 Ala91Val A91V pathogenic Low clinical importance, Likely pathogenic other Array rs35947132 350 10758 0.0325339 3 0 3 3 3 1 Y 1 Y 3 Y 0 Y 4 - 4 - Y Y - - 0.852 Y Y 2 - 6 Y 0 1 This variant may be associated with a slightly increased susceptibility to some rare blood disorders, in particular autoimmune proliferative disease, if combined with a more severe mutation elsewhere. Most reports lack statistical significance. PRF1 Arg225Trp R225W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 7 Y 6 N 10 - - PRF1 Asn252Ser N252S pathogenic Insufficiently evaluated pathogenic unknown Array rs28933375 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - PRF1 Cys279Tyr C279Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - PRF1 Gln64Stop Q64X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PRF1 Gln416Stop Q416X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - PRF1 Gly429Glu G429E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y Y 6 Y 6 N 10 - - PRF1 Pro345Leu P345L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - PRF1 Ser388Ile S388I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.76 Y Y 5 Y 5 N 4 - - PRF1 Thr435Met T435M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - PRF1 Trp374Stop W374X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PRF1 Val183Gly V183G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.8 Y Y 8 Y 5 N 10 - - PRICKLE1 Arg104Gln R104Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 0 - 5 N 3 - - PRKAG2 Arg302Gln R302Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - PRKAG2 Arg531Gln R531Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - PRKAG2 Arg531Gly R531G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - PRKAG2 Asn488Ile N488I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.206 Y - 7 Y 4 N 10 - - PRKAG2 His142Arg H142R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - PRKAG2 Thr400Asn T400N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.871 Y - 1 - 5 N 10 - - PRKAR1A Arg74Cys R74C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 4 - - PRKCA Asp294Gly D294G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 4 Y 2 N - - PRKCG Gln127Arg Q127R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.634 Y Y 0 - 5 N 8 - - PRKCG Gly118Asp G118D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.324 Y Y 4 Y 5 N 10 - - PRKCG Gly128Asp G128D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.727 Y Y 4 Y 5 N 10 - - PRKCG His101Gln H101Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - PRKCG His101Tyr H101Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - PRKCG Phe643Leu F643L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - PRKCG Ser119Pro S119P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.51 Y Y 3 - 5 N 10 - - PRKCG Ser361Gly S361G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 2 - 6 N 4 - - PRKCSH Gln413Stop Q413X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - PRKCSH Tyr422Stop Y422X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - PRKRA Pro222Leu P222L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PRNP Ala117Val A117V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.891 Y Y 2 - 6 N 10 - - PRNP Ala133Val A133V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - PRNP Arg208His R208H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 1 - 6 N 10 - - PRNP Asn171Ser N171S pathogenic Insufficiently evaluated pathogenic unknown Array 185 10758 0.0171965 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 0 - 4 N 10 - - PRNP Gln217Arg Q217R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - PRNP Glu200Lys E200K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y Y 0 - 6 N 10 - - PRNP Gly131Val G131V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - PRNP His187Arg H187R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - PRNP Met232Arg M232R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.463 Y Y 4 Y 5 N 10 - - PRNP Phe198Ser F198S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 5 Y 6 N 10 - - PRNP Pro102Leu P102L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - PRNP Pro105Leu P105L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - PRNP Pro105Ser P105S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - PRNP Pro105Thr P105T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 10 - - PRNP Thr183Ala T183A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 1 - 6 N 10 - - PRNP Val180Ile V180I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.943 Y Y -4 - 6 N 10 - - PRNP Val210Ile V210I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.064 Y Y -4 - 4 N 10 - - PROC Ala259Val A259V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - PROC Ala267Thr A267T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - PROC Arg12Trp R12W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PROC Arg169Trp R169W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PROC Arg178Gln R178Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - PROC Arg178Trp R178W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 8 - - PROC Arg230Cys R230C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - PROC Arg306Stop R306X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - PROC Gln184His Q184H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 5 - - PROC Glu20Ala E20A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - PROC Gly292Ser G292S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 5 - - PROC Gly301Ser G301S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - PROC His107Pro H107P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 8 - - PROC Ile403Met I403M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - PROC Leu223Phe L223F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - PROC Pro168Leu P168L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PROC Pro247Leu P247L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PROC Ser270Leu S270L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 4 - - PROC Trp402Cys W402C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PROC Val34Met V34M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - PROC Val297Met V297M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - PRODH Ala455Ser A455S pathogenic Low clinical importance, Uncertain pathogenic unknown Array 5 10758 0.00046477 0 0 0 2 2 - - 0 Y 0 Y - - 1 Y 2 Y Y Y - - - Y - -1 - 4 N 10 0 0 May cause mild hyperprolinemia in a recessive manner PRODH Arg453Cys R453C pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs3970559 109 10758 0.010132 1 0 1 2 2 2 Y 1 Y 0 Y 0 Y 2 Y 0 Y Y Y - - - Y - 8 Y 4 N 10 0 0 Associated with reduced proline oxidase activity, and may cause hyperprolemia in a recessive manner (when homozygous or compound heterozygous). Hyperprolemia, in turn, may be associated with schizophrenia. PRODH Gln521Arg Q521R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - PRODH Gln521Glu Q521E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 9 - - PRODH Leu289Met L289M pathogenic Low clinical importance, Uncertain pathogenic undefined Array 47 10758 0.00436884 1 0 1 2 2 ! Y 1 Y 0 Y 0 Y 4 Y 4 - Y Y - - - Y - -3 - 4 N 10 0 0 One report suggested that this rare variant (0.9% allele frequency) could be associated with hyperprolinemia and, through this, associated with increased susceptibility to schizophrenia and/or schizoaffective disorder. However, this finding completely lacked statistical significance, and both reported cases were also associated with other potentially causal variants. A later functional study found only a mild functional effect on enzyme activity (78-90% of wildtype activity). PRODH Leu441Pro L441P pathogenic High clinical importance, pathogenic recessive Array 64 10758 0.00594906 0 0 0 2 2 1 Y 2 Y 5 Y - - 3 Y 4 Y Y Y - - - Y - 7 Y 4 N 10 2 2 Causes hyperprolinemia in a recessive manner (high levels of proline in the blood due to a defect in metabolism of this amino acid). This can sometimes lead to seizures, mental retardation, and other neurological manifestations. Some authors also hypothesize hyperprolinemia is a risk factor for schizophrenia, but this is less well supported and the effect of this variant on risk for that disease is unclear. PRODH Thr466Met T466M pathogenic Insufficiently evaluated pathogenic unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 9 - - PROK2 Arg73Cys R73C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - PROK2 Gly32Arg G32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 4 - - PROKR2 Arg85His R85H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - PROKR2 Gln210Arg Q210R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 6 - - PROKR2 Leu173Arg L173R pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - - - 4 Y - - 3 - 4 - Y Y - - 0.992 Y Y 6 Y 6 N 10 2 0 Reported to cause Kallman Syndrome (delayed or absent puberty) in a recessive manner – and potentially when heterozygous, in combination with harmful variants in another gene. This comes from Dodé et al 2006 (PMID: 17054399) where it was seen in 6 of 192 cases (once homozygously) and is recorded in ClinVar by OMIM. ExAC data indicates 1 in 145 with European ancestry carry this variant, and ~1 in 80,000 are homozygous. This potentially contradicts the proposed effect. The frequency is only slightly lower than the prevalence of the syndrome – and over a dozen genes implicated as causal for this gene. If this variant were causal, it should account for a large fraction of cases and be well-established. PROKR2 Met323Ile M323I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y Y -1 - 6 N 6 - - PROM1 Arg373Cys R373C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.515 Y - 8 Y 4 N 10 - - PROM1 Gln576Stop Q576X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PROP1 Arg73Cys R73C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - PROP1 Arg73His R73H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - PROP1 Arg99Glu R99E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - PROP1 Arg99Stop R99X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PROP1 Arg120Cys R120C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - PROP1 Phe88Ser F88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - PROP1 Phe117Ile F117I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - PROP1 Trp194Stop W194X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PROS1 Arg520Gly R520G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - PROS1 Asn217Ser N217S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - PROS1 Gln238Stop Q238X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - PROS1 Lys155Glu K155E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - PROS1 Ser460Pro S460P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - PRPF3 Ala489Asp A489D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N - - PRPF3 Pro493Ser P493S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 5 - - PRPF3 Thr494Met T494M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 10 - - PRPF31 Ala194Glu A194E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y - 3 - 5 N 10 - - PRPF31 Ala216Pro A216P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 10 - - PRPF8 Arg2310Lys R2310K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -3 - 5 N 8 - - PRPF8 His2309Arg H2309R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - PRPF8 His2309Pro H2309P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 6 - - PRPF8 Phe2304Leu F2304L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 0 - 5 N 5 - - PRPF8 Pro2301Thr P2301T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 4 - - PRPH Asp141Tyr D141Y pathogenic High clinical importance, Uncertain pathogenic recessive Array 33 9036 0.00365206 0 0 0 1 1 ! Y 1 Y 4 Y - - 4 - 1 - - Y - - 0.086 - - 7 Y 2 N 2 0 Hypothesized to cause ALS (or increased susceptibility) in a recessive manner, but this is based on a single observation and may lack statistical significance. The mutant protein appears to form abnormal aggregates. PRPH2 Arg46Stop R46X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PRPH2 Arg172Gln R172Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.815 Y - 0 - 4 N - - PRPH2 Arg172Trp R172W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - PRPH2 Asn244Lys N244K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 1 - 5 N 1 - - PRPH2 Asp173Val D173V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N - - PRPH2 Gly167Asp G167D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 1 - - PRPH2 Leu185Pro L185P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 6 - - PRPH2 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N - - PRPH2 Pro210Arg P210R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.934 Y - 5 Y 5 N 2 - - PRPH2 Pro216Leu P216L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.462 Y - 7 Y 4 N 10 - - PRPH2 Trp316Stop W316X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - PRPH2 Tyr258Stop Y258X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - PRPS1 Ala189Val A189V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - PRPS1 Asn113Ser N113S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - PRPS1 Asp51His D51H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - PRPS1 Asp182His D182H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - PRPS1 Gln133Pro Q133P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - PRPS1 Glu43Asp E43D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - PRPS1 His192Gln H192Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 1 - - PRPS1 Leu128Ile L128I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 1 - - PRPS1 Leu152Pro L152P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.913 Y Y 7 Y 6 N 10 - - PRPS1 Met115Thr M115T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y Y 2 - 6 N 10 - - PRSS1 Ala121Thr A121T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - PRSS1 Arg122Cys R122C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.388 Y - 8 Y 4 N 10 - - PRSS1 Asn29Ile N29I pathogenic Insufficiently evaluated pathogenic unknown Array 1803 10758 0.167596 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 3 N 10 - - PRSS1 Asn54Ser N54S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - PRSS1 Glu79Lys E79K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - PRSS1 Lys23Arg K23R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.043 Y - -3 - 3 N 10 - - PRSS2 Gly191Arg G191R protective Low clinical importance, Uncertain protective unknown Array 1 0 1 1 1 2 Y 2 Y 3 Y - - 0 Y 0 Y - Y - - - - - 6 Y 3 N 10 0 0 This variant is protective from chronic pancreatitis. PRSS7 Arg857Stop R857X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PRSS7 Gln261Stop Q261X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PRSS7 Ser712Stop S712X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PRX Arg196Stop R196X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PRX Arg368Stop R368X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - PRX Arg953Stop R953X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - PRX Arg1070Stop R1070X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PRX Cys715Stop C715X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PSAP Asn215His N215H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - PSAP Cys241Ser C241S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 5 - - PSAP Cys382Gly C382G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - PSAP Cys385Phe C385F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 2 - - PSAP Gln430Stop Q430X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - PSAP Leu349Pro L349P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 7 Y 5 N 6 - - PSAP Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y - -3 - 3 N 10 - - PSAP Thr217Ile T217I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 3 - 5 N 2 - - PSAT1 Asp100Ala D100A pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - PSEN1 Ala79Val A79V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 10 - - PSEN1 Ala246Glu A246E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.468 Y Y 3 - 5 N 10 - - PSEN1 Ala426Pro A426P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 2 - 6 N 5 - - PSEN1 Ala431Glu A431E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - PSEN1 Arg278Ile R278I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PSEN1 Arg278Thr R278T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - PSEN1 Asp333Gly D333G pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 4 Y 4 N 3 - - PSEN1 Cys92Ser C92S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 4 - - PSEN1 Cys410Tyr C410Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PSEN1 Glu120Asp E120D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.576 Y Y -2 - 5 N 4 - - PSEN1 Glu280Ala E280A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 10 - - PSEN1 Glu280Gly E280G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - PSEN1 Gly183Val G183V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.039 Y Y 8 Y 4 N 10 - - PSEN1 Gly206Ala G206A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 8 - - PSEN1 Gly266Ser G266S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 2 - - PSEN1 His163Arg H163R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 1 - 6 N 10 - - PSEN1 His163Tyr H163Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.91 Y Y -1 - 6 N 10 - - PSEN1 Leu85Pro L85P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - PSEN1 Leu113Pro L113P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - PSEN1 Leu166Pro L166P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.283 Y Y 7 Y 5 N 10 - - PSEN1 Leu174Met L174M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.883 Y Y -3 - 6 N 3 - - PSEN1 Leu250Ser L250S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - PSEN1 Leu271Val L271V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 10 - - PSEN1 Leu286Val L286V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - PSEN1 Met139Val M139V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.876 Y Y 0 - 6 N 10 - - PSEN1 Met146Ile M146I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 5 - - PSEN1 Met146Leu M146L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -3 - 6 N 10 - - PSEN1 Met146Val M146V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 0 - 6 N 10 - - PSEN1 Pro267Ser P267S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 4 - - PSEN1 Pro436Gln P436Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - PSEN1 Ser170Phe S170F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - PSEN2 Ala85Val A85V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 2 - 6 N 10 - - PSEN2 Asn141Ile N141I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PSEN2 Asp439Ala D439A pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.777 Y Y 5 Y 5 N 10 - - PSEN2 Met239Ile M239I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -1 - 6 N 10 - - PSEN2 Met239Val M239V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 0 - 6 N 10 - - PSEN2 Ser130Leu S130L pathogenic Low clinical importance, Uncertain pathogenic dominant Array 9 10758 0.000836586 0 0 0 5 4 2 Y ! Y 0 Y - - 3 Y 1 - Y Y - - 0.933 Y Y 6 Y 6 N 4 0 0 Occasional observations report this in patients with Alzheimer's Disease (AD), and other variants in this gene cause early-onset AD. One group speculates an association with dilated cardiomyopathy. However, a functional study found no abnormal behavior (Walker et al.) and none of these studies showed statistically significant associations of the variant with either of these diseases. PSEN2 Thr122Arg T122R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - PSEN2 Thr122Pro T122P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 10 - - PSEN2 Thr430Met T430M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - PSPH Asp32Asn D32N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.285 - - -1 - 3 N - - PSPH Met52Thr M52T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 2 - 4 N - - PSTPIP1 Ala230Thr A230T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y - 1 - 3 N 10 - - PSTPIP1 Glu250Gln E250Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.813 Y - -2 - 4 N 10 - - PTCH1 Ala393Thr A393T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y Y 1 - 4 N 2 - - PTCH1 Gln210Stop Q210X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - PTCH1 Ser827Gly S827G pathogenic Insufficiently evaluated pathogenic unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 2 - 4 N 3 - - PTCH1 Thr728Met T728M benign Low clinical importance, benign undefined Array 83 10758 0.00771519 0 0 0 0 0 3 - - - 5 Y - - - - - - Y Y - - 0.214 Y Y 2 - 5 N 2 0 2 Reported to cause holoprosencephaly, which causes facial and brain malformations. Submitted to ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000008705/), based on Ming et al 2002 (PMID: 11941477) and Rahimov et al 2006 (PMID: 17096318). Proposed inheritance pattern unclear – possibly dominant with variable penetrance. However, this pathogenic effect is strongly contradicted by ExAC allele frequency data which reports the variant has an allele frequency of 2.2% in African ancestry. PTCH1 Thr1052Met T1052M pathogenic Insufficiently evaluated pathogenic unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 1 - - PTCH1 Val908Gly V908G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 8 Y 6 N 1 - - PTCH2 Arg719Gln R719Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - PTEN Ala121Gly A121G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.291 Y Y 1 - 5 N 2 - - PTEN Arg130Gln R130Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - PTEN Arg130Stop R130X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PTEN Arg233Stop R233X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PTEN Arg234Gln R234Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.061 Y Y 0 - 4 N 7 - - PTEN Arg335Stop R335X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - PTEN Asp19Asn D19N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.339 Y Y -1 - 5 N - - PTEN Asp252Gly D252G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - PTEN Cys124Arg C124R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - PTEN Cys124Ser C124S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - PTEN Cys211Stop C211X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - PTEN Gln214Stop Q214X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - PTEN Glu157Stop E157X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - PTEN Glu256Stop E256X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - PTEN Gly129Glu G129E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PTEN Gly132Val G132V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 5 - - PTEN His93Arg H93R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - PTEN His123Arg H123R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 2 - - PTEN His861Asp H861D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - PTEN Leu70Pro L70P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 2 - - PTEN Leu112Pro L112P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 5 - - PTEN Met35Arg M35R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 4 - - PTEN Phe241Ser F241S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 5 Y 6 N 10 - - PTEN Ser170Arg S170R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 3 - 6 N 10 - - PTEN Tyr178Stop Y178X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - PTEN Val217Ile V217I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y -4 - 4 N 2 - - PTF1A Arg296Stop R296X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - PTH Arg83Stop R83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - PTH Cys18Arg C18R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 8 Y 5 N 10 - - PTH Ser23Pro S23P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.472 Y - 3 - 4 N 10 - - PTHB1 Arg598Stop R598X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - PTHB1 Gln355Stop Q355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - PTHB1 Gly141Arg G141R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 6 Y 4 N - - PTHR1 Arg104Stop R104X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 5 - - PTHR1 Arg150Cys R150C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - PTHR1 Arg485Stop R485X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PTHR1 Glu155Stop E155X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - PTHR1 His223Arg H223R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 10 - - PTHR1 Ile458Arg I458R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 7 - - PTHR1 Pro132Leu P132L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - PTHR1 Thr410Arg T410R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 4 - - PTHR1 Thr410Pro T410P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 10 - - PTPN1 Lys61Arg K61R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - PTPN11 Ala72Gly A72G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.789 Y Y 1 - 5 N 10 - - PTPN11 Ala72Ser A72S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.707 Y Y -1 - 5 N 10 - - PTPN11 Ala461Thr A461T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - PTPN11 Asn308Asp N308D pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -1 - 6 N 10 - - PTPN11 Asn308Ser N308S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - PTPN11 Asp61Gly D61G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 4 Y 6 N 10 - - PTPN11 Gln79Arg Q79R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.939 Y Y 0 - 6 N 10 - - PTPN11 Gln510Arg Q510R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.945 Y Y 0 - 6 N 1 - - PTPN11 Gln510Pro Q510P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.029 Y Y 4 Y 4 N 8 - - PTPN11 Glu76Ala E76A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 3 - 6 N 10 - - PTPN11 Glu76Gly E76G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - PTPN11 Glu76Lys E76K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 0 - 6 N 10 - - PTPN11 Glu76Val E76V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 5 Y 6 N 9 - - PTPN11 Gly464Ala G464A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - PTPN11 Phe285Ser F285S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 6 - - PTPN11 Ser502Thr S502T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - PTPN11 Thr73Ile T73I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 10 - - PTPN11 Thr411Met T411M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - PTPN11 Thr468Met T468M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - PTPN11 Tyr62Asp Y62D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - PTPN11 Tyr63Cys Y63C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PTPN11 Tyr279Cys Y279C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - PTPN22 Arg620Trp R620W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - PTPRJ Arg214Cys R214C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 8 Y 2 N - - PTS Arg16Cys R16C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - PTS Arg25Gln R25Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - PTS Asn47Asp N47D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.927 Y - -1 - 5 N 10 - - PTS Asn52Ser N52S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.962 Y - 0 - 5 N 10 - - PTS Asp96Asn D96N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -1 - 5 N 10 - - PTS Asp116Gly D116G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.234 Y - 4 Y 4 N 5 - - PTS Pro87Ser P87S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.789 Y - 3 - 4 N 10 - - PTS Val56Met V56M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.034 Y - 0 - 3 N 10 - - PUS1 Arg116Trp R116W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - PUS1 Glu220Stop E220X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - PVRL1 Trp185Stop W185X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - PXMP3 Arg118Stop R118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - PXMP3 Glu55Lys E55K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - PYCR1 Arg119Gly R119G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - PYCR1 Arg119His R119H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.883 - - 1 - 4 N - - PYCR1 Arg251His R251H pathogenic Insufficiently evaluated pathogenic unknown Array 2 10752 0.000186011 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - PYCR1 Arg266Gln R266Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.833 - - 0 - 3 N - - PYCR1 Gly206Trp G206W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - PYGL Asn376Lys N376K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - PYGM Arg50Stop R50X pathogenic High clinical importance, pathogenic recessive Array 21 10758 0.00195204 1 0 1 1 1 3 Y - - 5 - - - 4 - 3 - Y Y - - - Y Y 10 Y 6 N 10 2 2 Causes Glycogen Storage Disease Type V (McArdle's disease) in a recessive manner. PYGM Arg575Stop R575X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - PYGM Gln665Glu Q665E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 6 - - PYGM Glu540Stop E540X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - PYGM Glu654Lys E654K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - PYGM Gly204Ser G204S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - PYGM Gly685Arg G685R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - PYGM Leu396Pro L396P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - PYGM Lys542Thr K542T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - PYGM Lys608Lys K608K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -10 - 5 N 7 - - PYGM Trp797Arg W797R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - PYGM Tyr573Stop Y573X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - QDPR Gly23Asp G23D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - QDPR Trp36Arg W36R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 3 - - QDPR Trp90Stop W90X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - QDPR Trp108Gly W108G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - QDPR Tyr150Cys Y150C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - RAB23 Leu145Stop L145X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10744 0.00018615 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - RAB27A Ala87Pro A87P pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y - 2 - 5 N 4 - - RAB27A Ala152Pro A152P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 10 - - RAB27A Gln118Stop Q118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - RAB27A Leu130Pro L130P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 10 - - RAB27A Trp73Gly W73G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - RAB3GAP1 Arg671Stop R671X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - RAB3GAP1 Trp578Stop W578X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - RAB3GAP2 Gly1051Cys G1051C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - RAB7 Asn161Thr N161T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 7 - - RAB7 Leu129Phe L129F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 10 - - RAB7 Lys157Asn K157N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 10 - - RAB7 Val162Met V162M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 6 - - RAC2 Asp57Asn D57N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.825 - - -1 - 3 N - - RAD50 Arg1093Stop R1093X pathogenic Insufficiently evaluated pathogenic unknown Array 1 0 1 1 1 - - 5 Y - - - - 5 Y - - - Y - - - - - 10 Y 4 N - - RAD51 Arg150Gln R150Q pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 0 - 2 N - - RAD54 Gly325Arg G325R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 3 - - RAD54 Pro63His P63H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 1 - - RAD54 Val444Glu V444E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 1 - - RAD54B Asn593Ser N593S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - RAD54B Asp418Tyr D418Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.984 - - 7 Y 4 N - - RAF1 Leu613Val L613V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 0 - 4 N 3 - - RAF1 Pro261Ser P261S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 2 - - RAF1 Ser257Leu S257L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 6 Y 6 N 10 - - RAF1 Thr491Arg T491R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y Y 3 - 6 N 4 - - RAG1 Ala156Val A156V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.14 Y - 2 - 3 N 6 - - RAG1 Arg314Trp R314W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y - 7 Y 5 N 3 - - RAG1 Arg396Cys R396C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 8 Y 5 N 10 - - RAG1 Arg396His R396H pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.879 Y - 1 - 5 N 10 - - RAG1 Arg561Cys R561C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 8 Y 5 N 9 - - RAG1 Arg561His R561H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.879 Y - 1 - 5 N 10 - - RAG1 Arg737His R737H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.879 Y - 1 - 5 N 10 - - RAG1 Arg776Trp R776W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 7 Y 5 N 1 - - RAG1 Arg778Gln R778Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.879 Y - 0 - 5 N 3 - - RAG1 Arg841Trp R841W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 7 Y 5 N 10 - - RAG1 Arg975Trp R975W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 7 Y 5 N 10 - - RAG1 Asp429Gly D429G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.679 Y - 4 Y 4 N 10 - - RAG1 Cys328Tyr C328Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 4 - - RAG1 Gln981Pro Q981P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.679 Y - 4 Y 4 N 8 - - RAG1 Glu722Lys E722K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.302 Y - 0 - 4 N 10 - - RAG1 Glu774Stop E774X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - RAG1 Tyr912Cys Y912C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.889 Y - 6 Y 5 N 5 - - RAG1 Tyr938Stop Y938X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - RAG2 Arg39Gly R39G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.82 Y - 6 Y 4 N 3 - - RAG2 Arg229Gln R229Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - RAG2 Cys41Trp C41W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 7 Y 5 N 3 - - RAG2 Cys476Tyr C476Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - RAG2 Gly95Arg G95R pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 10758 0.000092954 0 0 0 0 0 - - - - 0 - 0 - 5 - 4 - Y Y - - 0.932 Y - 6 Y 5 N 10 2 0 Reported to cause Omenn syndrome in a recessive manner, causing severe immunodeficiency. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000014014/) and comes from a case study by Gomez et al 2000 (PMID: 10891502). Gomez et al observed this variant compound heterozygous with another missense variant in a patient. RAG2 Gly451Ala G451A pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 1 - 5 N 4 - - RAG2 Met285Arg M285R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 6 - - RAG2 Thr77Asn T77N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.508 Y - 1 - 4 N 3 - - RAG2 Trp215Ile W215I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - RAI1 Gln1562Arg Q1562R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.248 Y Y 0 - 5 N 4 - - RAI1 Ser1808Asn S1808N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.02 Y Y 0 - 4 N 5 - - RANBP2 Ile656Val I656V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.009 - - -4 - 2 N - - RANBP2 Thr585Met T585M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.732 - - 2 - 3 N - - RANBP2 Thr653Ile T653I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.27 - - 3 - 3 N - - RAPSN Ala189Val A189V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.205 Y Y 2 - 5 N 2 - - RAPSN Arg164Cys R164C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - RAPSN Asn88Lys N88K pathogenic High clinical importance, Likely pathogenic recessive Array 9 10758 0.000836586 0 0 0 1 1 2 Y - - 5 - - - 4 Y 3 - Y Y - - 0.999 Y Y 1 - 6 N 10 2 1 Causes congenital myasthenic syndrome in a recessive manner (when homozygous or combined with another deleterious variant in the same gene). RAPSN Glu162Lys E162K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 1 - - RAPSN Leu14Pro L14P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - RAPSN Leu283Pro L283P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.872 Y Y 7 Y 6 N 10 - - RAPSN Phe139Ser F139S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 2 - - RAPSN Tyr269Stop Y269X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RAPSN Val45Met V45M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.239 Y Y 0 - 5 N 1 - - RASA1 Arg285Stop R285X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - RASA1 Arg398Leu R398L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 2 - - RASA1 Cys540Tyr C540Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 2 - - RASA1 Ile401Val I401V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.863 Y - -4 - 5 N 2 - - RASA1 Lys400Gly K400G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 2 - - RAX Arg192Glu R192E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - RAX Gln147Stop Q147X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - RAX Tyr303Stop Y303X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RAXL1 Arg87Gln R87Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N - - RAXL1 Gly137Arg G137R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N - - RB1 Arg358Stop R358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RB1 Arg445Stop R445X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RB1 Arg556Stop R556X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RB1 Arg661Trp R661W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - RB1 Arg787Stop R787X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RB1 Cys712Arg C712R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 9 - - RB1 Gln675Stop Q675X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - RB1 Glu748Stop E748X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - RB1 Ser567Leu S567L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - RB1 Tyr606Stop Y606X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RBM28 Leu351Pro L351P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 7 Y 4 N - - RBP4 Gly75Asp G75D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - RBP4 Ile41Asn I41N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - RBPP8 Lys337Glu K337E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - RCP Arg247Stop R247X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - RCP Gly338Glu G338E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N - - RCP Ser180Ala S180A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 2 - - RDH12 Arg62Stop R62X pathogenic High clinical importance, pathogenic recessive Array 0 0 0 0 0 4 Y - - 4 Y - - 4 - 1 - Y Y - - - Y Y 10 Y 6 N 10 2 2 Reported to cause Leber congenital amaurosis in a recessive manner, causing night blindness and vision loss. This effect is reported in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000002131/). Studying 110 unrelated patients, Perrault et al 2004 (PMID: 15322982) report seeing this variant once. RDH12 Gln189Stop Q189X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RDH12 Gly127Stop G127X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RDH12 His151Asn H151N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 1 - - RDH12 His151Asp H151D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - RDH12 Ile51Asn I51N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 9 - - RDH12 Leu99Ile L99I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y -2 - 6 N 10 - - RDH12 Pro230Ala P230A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 3 - - RDH12 Ser175Pro S175P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 3 - 6 N 5 - - RDH12 Thr49Met T49M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 2 - 6 N 10 - - RDH12 Thr155Ile T155I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 3 - 6 N 10 - - RDH12 Tyr226Cys Y226C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - RDH5 Ala294Pro A294P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.174 - - 2 - 2 N - - RDH5 Arg157Trp R157W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - RDH5 Arg280His R280H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.875 - - 1 - 4 N - - RDH5 Gly238Trp G238W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.974 - - 7 Y 4 N - - RDH5 Ser73Phe S73F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.992 - - 5 Y 4 N - - RDH5 Tyr281His Y281H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -1 - 4 N - - RDH5 Val177Gly V177G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.134 - - 8 Y 2 N - - RDX Asp578Asn D578N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - -1 - 4 N - - RDX Gln155Stop Q155X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - RECQL2 Arg368Stop R368X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - RECQL2 Arg1305Stop R1305X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - RECQL2 Gln1165Stop Q1165X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - RECQL2 Lys577Met K577M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 4 Y 4 N 7 - - RECQL3 Cys1036Phe C1036F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - RECQL3 Ile843Thr I843T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N - - RECQL4 Arg1021Trp R1021W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - RECQL4 Gln757Stop Q757X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10322 0.00019376 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RECQL4 Glu1091Stop E1091X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RECQL4 Trp269Stop W269X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - REEP1 Ala20Glu A20E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 2 - - REEP1 Arg113Stop R113X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - REN Arg49Stop R49X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - REN Arg230Lys R230K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.979 - - -3 - 4 N - - REN Arg387Stop R387X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - REN Leu16Arg L16R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.743 - - 6 Y 3 N - - RET Ala45Ala A45A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -8 - 5 N 10 - - RET Ala640Gly A640G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 1 - 4 N 8 - - RET Arg114His R114H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.072 Y Y 1 - 4 N 10 - - RET Arg180Stop R180X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RET Arg231His R231H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - RET Arg313Gln R313Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.907 Y Y 0 - 6 N 10 - - RET Arg330Gln R330Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 0 - 6 N 3 - - RET Arg897Gln R897Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 0 - 6 N 6 - - RET Arg972Gly R972G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 8 - - RET Arg982Cys R982C pathogenic Low clinical importance, Uncertain pathogenic dominant Array rs17158558 174 10758 0.016174 2 0 2 4 4 2 Y ! Y 0 Y 0 Y 4 - 3 - Y Y - - 0.885 Y Y 8 Y Hirschsprung Disease 3 81 3 214 2.642 6 N 10 0 0 Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis. RET Cys609Arg C609R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 9 - - RET Cys609Tyr C609Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - RET Cys611Trp C611W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 4 - - RET Cys618Arg C618R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - RET Cys618Gly C618G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - RET Cys618Ser C618S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - RET Cys620Arg C620R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - RET Cys620Phe C620F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - RET Cys620Ser C620S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - RET Cys620Trp C620W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - RET Cys620Tyr C620Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - RET Cys634Arg C634R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - RET Cys634Gly C634G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - RET Cys634Phe C634F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - RET Cys634Ser C634S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - RET Cys634Trp C634W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - RET Cys634Tyr C634Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - RET Glu136Stop E136X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RET Glu768Asp E768D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.824 Y Y -2 - 5 N 10 - - RET Gly533Cys G533C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - RET Leu790Phe L790F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.794 Y Y 0 - 5 N 10 - - RET Met918Thr M918T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - RET Phe393Leu F393L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 7 - - RET Pro64Leu P64L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 7 Y 6 N 7 - - RET Pro198Thr P198T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.919 Y Y 4 Y 6 N 1 - - RET Pro912Arg P912R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 4 - - RET Pro1039Leu P1039L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - RET Ser32Leu S32L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.091 Y Y 6 Y 4 N 10 - - RET Ser765Pro S765P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 7 - - RET Ser891Ala S891A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y -1 - 6 N 10 - - RET Tyr791Phe Y791F pathogenic Low clinical importance, Uncertain pathogenic unknown Array 14 10758 0.00130136 0 0 0 9 2 1 Y - - 0 Y - - 3 - 4 - Y Y - - 0.402 Y Y -4 - 5 N 10 0 0 Several publications asserted this variant caused familial medullary thyroid cancer in a dominant manner. However, a 2010 publication by Erlic et al. examined a larger set of controls, finding the variant no more common in cases than it was in controls. These authors conclude that the variant is not a serious cause of the disease, although they could not rule out a small effect on risk. RET Val648Ile V648I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y -4 - 4 N 10 - - RET Val778Ile V778I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - RET Val804Leu V804L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 10 - - RFT1 Arg67Cys R67C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - RFX5 Arg149Gln R149Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - RFXANK Asp121Val D121V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - RFXAP Gln53Stop Q53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - RGR Ser66Arg S66R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 9 - - RGS9 Trp299Arg W299R pathogenic Insufficiently evaluated pathogenic unknown Array 2 9858 0.00020288 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - RHAG Gly279Glu G279E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - RHAG Gly380Val G380V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - RHAG Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - RHAG Ser79Asn S79N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - RHCE Pro226Ala P226A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - RHD Leu110Pro L110P pathogenic Insufficiently evaluated pathogenic unknown Array 9 9706 0.000927261 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.984 - - 7 Y 4 N 10 - - RHD Val270Gly V270G pathogenic Insufficiently evaluated pathogenic unknown Array 26 9556 0.0027208 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.142 - - 8 Y 2 N 10 - - RHO Ala164Glu A164E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.765 Y - 3 - 4 N 3 - - RHO Ala292Glu A292E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.12 Y - 3 - 3 N 10 - - RHO Arg135Leu R135L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - RHO Arg135Trp R135W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - RHO Arg207Met R207M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - RHO Asn15Ser N15S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.768 Y - 0 - 4 N 10 - - RHO Asp190Asn D190N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.16 Y - -1 - 3 N 10 - - RHO Asp190Gly D190G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.583 Y - 4 Y 4 N 5 - - RHO Asp190Tyr D190Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.929 Y - 7 Y 5 N 4 - - RHO Cys110Tyr C110Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - RHO Gln344Stop Q344X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - RHO Glu150Lys E150K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.93 Y - 0 - 5 N 10 - - RHO Glu249Stop E249X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - RHO Gly51Arg G51R pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 3 3 3 Y 1 Y 0 Y 3 Y 3 Y 4 Y Y Y - - 0.994 Y - 6 Y Retinitis Pigmentosa, Autosomal Dominant 3 210 0 0 - 5 N 7 - - This variant is implicated in autosomal dominant retinitis pigmentosa, found in two families. RHO Gly89Asp G89D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.73 Y - 4 Y 4 N 10 - - RHO Gly90Asp G90D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - RHO Gly106Arg G106R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - RHO Gly106Trp G106W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 5 - - RHO Gly114Asp G114D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 4 Y 5 N 7 - - RHO Gly182Ser G182S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.983 Y - 2 - 5 N 3 - - RHO His211Pro H211P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 4 - - RHO Lys296Glu K296E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 0 - 5 N 10 - - RHO Met207Arg M207R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 4 - - RHO Phe45Leu F45L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 8 - - RHO Pro23Ala P23A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 2 - 5 N 10 - - RHO Pro23His P23H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 10 - - RHO Pro53Arg P53R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - RHO Pro171Ser P171S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 3 - - RHO Pro267Leu P267L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - RHO Pro347Arg P347R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.676 Y - 5 Y 4 N 8 - - RHO Pro347Gln P347Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.184 Y - 4 Y 3 N 5 - - RHO Pro347Leu P347L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.842 Y - 7 Y 4 N 10 - - RHO Pro347Ser P347S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 3 - 3 N 10 - - RHO Thr17Met T17M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.912 Y - 2 - 5 N 10 - - RHO Thr58Arg T58R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 3 - 5 N 10 - - RHO Thr94Ile T94I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 3 - 5 N 10 - - RHO Tyr178Cys Y178C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 3 - - RHO Val87Asp V87D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 8 Y 5 N 7 - - RHO Val345Leu V345L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y - 0 - 3 N 5 - - RHO Val345Met V345M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y - 0 - 3 N 10 - - RIMS1 Arg820His R820H pathogenic Insufficiently evaluated pathogenic unknown Array 2 9510 0.000210304 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.768 Y - 1 - 4 N 1 - - RLBP1 Arg150Gln R150Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - RLBP1 Arg234Trp R234W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - RLBP1 Met225Lys M225K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 4 - - RNASEH2A Gly37Ser G37S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 8 - - RNASEH2B Ala177Thr A177T pathogenic Insufficiently evaluated pathogenic unknown Array 24 10758 0.0022309 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.504 Y Y 1 - 5 N 7 - - RNASEH2B Val185Gly V185G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 5 - - RNASEH2C Arg69Trp R69W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - RNASEH2C Lys143Ile K143I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 6 Y 6 N 3 - - RNASEL Glu265Stop E265X pathogenic Low clinical importance, Uncertain pathogenic dominant Array 31 10758 0.00288158 0 0 0 2 2 2 Y 1 Y ! Y - - 3 - 4 - Y Y - - - Y - 10 Y Prostate cancer 4 617 6 531 0.574 5 N 10 0 0 Implicated in causing familial prostate cancer, but later findings fail to confirm this. The variant is equally common in the control population, which strongly contradicts the original hypothesis of a high penetrance effect. If the variant has any effect on prostate cancer it seems likely to be low penetrance (any evidence for this is, however, very weak). RNASEL Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - -1 - 5 N 10 - - RNASET2 Cys184Arg C184R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - RNF135 Arg286His R286H pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 1 - 2 N - - RNF135 Gln243Stop Q243X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - RNF6 Ala242Thr A242T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - RNF6 Arg102Lys R102K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.514 - - -3 - 3 N - - RNF6 Gly244Asp G244D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.776 - - 4 Y 3 N - - ROBO2 Ala1236Thr A1236T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 1 - 3 N 3 - - ROBO2 Ile945Thr I945T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 3 - - ROBO3 Arg245Trp R245W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - ROBO3 Arg703Pro R703P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 3 - - ROBO3 Gln773Stop Q773X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ROBO3 Glu319Lys E319K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.053 Y - 0 - 3 N 10 - - ROBO3 Gly361Glu G361E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 1 - - ROBO3 Gly456Stop G456X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ROBO3 Ile66Leu I66L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - -2 - 5 N 1 - - ROBO3 Leu5Pro L5P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.831 Y - 7 Y 4 N 1 - - ROBO3 Ser705Pro S705P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y - 3 - 4 N 3 - - ROR2 Arg119Stop R119X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ROR2 Arg184Cys R184C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - ROR2 Arg205Stop R205X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - ROR2 Gln502Stop Q502X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ROR2 Trp720Stop W720X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - ROR2 Trp749Stop W749X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - ROR2 Tyr755Stop Y755X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - RP1 Arg677Stop R677X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - RP1 Gln679Stop Q679X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - RP2 Arg118His R118H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - RP2 Arg118Leu R118L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 2 - - RP2 Arg120Stop R120X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - RP2 Gln26Stop Q26X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - RP2 Tyr151Stop Y151X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - RP9 Asp170Gly D170G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y - 4 Y 5 N 10 - - RP9 His137Leu H137L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - RPE65 Ala132Thr A132T pathogenic Insufficiently evaluated pathogenic unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - RPE65 Arg91Trp R91W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - RPE65 Arg234Stop R234X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - RPE65 Arg515Trp R515W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 7 - - RPE65 Leu341Ser L341S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 6 - - RPE65 Pro363Thr P363T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 9 - - RPE65 Val452Gly V452G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - RPGR Glu299Stop E299X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - RPGR Gly60Val G60V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - RPGR Gly173Arg G173R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - RPGR Gly275Ser G275S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - RPGR Gly392Stop G392X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - RPGR Phe130Cys F130C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - RPGR Pro235Ser P235S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - RPGR Thr99Asn T99N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - RPGRIP1 Arg827Leu R827L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 7 - - RPGRIP1 Asp1114Gly D1114G pathogenic High clinical importance, Uncertain pathogenic recessive Array rs17103671 258 9740 0.0264887 5 0 6 1 1 0 Y - - 0 Y 0 Y 4 Y 2 Y Y Y - - - Y Y 4 Y Leber Congenital Amaurosis 2 84 0 0 - 5 N 7 2 0 This variant is hypothesized to cause Leber's Congenital Amaurosis in a recessive manner (causing severe vision loss and blindness), but stastical significance cannot be established without any observations of allele frequency in controls. This variant is a missense and predicted by Polyphen 2 to have a benign effect, while other causal variants implicated in this gene are severe truncating variants (nonsense or frameshift mutations). RPGRIP1 Trp65Stop W65X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - RPGRIP1L Ala229Thr A229T pathogenic Low clinical importance, Likely pathogenic unknown Array rs61747071 604 10758 0.0561443 6 0 6 1 1 1 Y 1 Y 3 Y - - 4 Y 1 Y Y Y - - 0.101 Y Y 1 - 4 N 10 0 1 This variant is generally not considered pathogenic, but when combined with other severe variants it is associated with rare genetic diseases which involve retinal degeneration. Carrying this variant increases the risk of these diseases, but the overall increased risk is very small because the diseases are very rare. RPGRIP1L Ala695Pro A695P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.783 Y Y 2 - 5 N 2 - - RPGRIP1L Arg132Stop R132X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPGRIP1L Gln253Stop Q253X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPGRIP1L Gln345Stop Q345X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPGRIP1L Gln684Stop Q684X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - RPGRIP1L Gln872Stop Q872X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPGRIP1L Lys233Stop K233X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPGRIP1L Thr615Pro T615P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.146 Y Y 4 Y 4 N 10 - - RPI Ala61Val A61V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - RPL11 Arg75Stop R75X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RPL35A Arg102Stop R102X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RPL35A Val33Ile V33I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y Y -4 - 4 N - - RPL5 Arg23Stop R23X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPL5 Gly140Ser G140S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 2 - 4 N 2 - - RPS17 Met1Arg M1R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 1 - - RPS19 Arg62Trp R62W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - RPS19 Arg84Stop R84X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPS19 Arg94Stop R94X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPS19 Gly127Gln G127Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - RPS19 Trp33Stop W33X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPS24 Arg16Stop R16X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RPS24 Gln106Stop Q106X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - RPS6KA3 Arg114Trp R114W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - RPS6KA3 Arg383Trp R383W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 7 Y 6 N 4 - - RPS6KA3 Arg729Gln R729Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 1 - - RPS6KA3 Gln689Stop Q689X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RPS6KA3 Gly75Val G75V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 3 - - RPS6KA3 Ile189Lys I189K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 1 - - RPS6KA3 Phe268Ser F268S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - RPS6KA3 Ser227Ala S227A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y -1 - 6 N 5 - - RPS6KA3 Val82Phe V82F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N - - RRAS2 Leu72Gln L72Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - RRM2B Arg327Stop R327X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - RRM2B Cys236Phe C236F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 3 - - RRM2B Gln284Stop Q284X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - RRM2B Glu194Lys E194K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.975 Y - 0 - 5 N 3 - - RRM2B Gly229Val G229V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 8 Y 5 N 2 - - RS1 Arg102Gln R102Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 9 - - RS1 Arg102Trp R102W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 7 - - RS1 Cys223Arg C223R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 10 - - RS1 Glu72Asp E72D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y -2 - 6 N 10 - - RS1 Glu72Lys E72K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 10 - - RS1 Gly74Val G74V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.944 Y Y 8 Y 6 N 2 - - RS1 Gly109Arg G109R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.895 Y Y 6 Y 6 N 8 - - RS1 Leu13Pro L13P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - RS1 Pro203Leu P203L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - RS1 Trp96Arg W96R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 6 - - RSPH4A Arg490Stop R490X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - RSPH4A Gln109Stop Q109X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - RSPH4A Gln154Stop Q154X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - RSPO4 Cys73Tyr C73Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 6 Y 4 N - - RSPO4 Cys107Arg C107R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10036 9.9641e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 8 Y 4 N - - RSPO4 Cys118Tyr C118Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 6 Y 4 N - - RSPO4 Gln65Arg Q65R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 - - 0 - 4 N 1 - - RTN4R Arg119Trp R119W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.996 - - 7 Y 4 N - - RTN4R Arg196His R196H pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - RUNX1 Ala107Pro A107P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 8 - - RUNX1 Arg201Gln R201Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 5 - - RUNX1 His58Asn H58N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - RUNX1 Lys83Glu K83E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - RUNX1 Tyr260Stop Y260X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - RUNX2 Arg169Pro R169P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - RUNX2 Arg225Gln R225Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - RUNX2 Arg225Trp R225W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - RUNX2 Met175Arg M175R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - RUNX2 Ser191Asn S191N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - RUNX2 Thr200Ala T200A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - RUNX2 Trp283Stop W283X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - RYR1 Arg109Trp R109W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - RYR1 Arg163Cys R163C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - RYR1 Arg248Gly R248G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y - Y Y 6 Y 5 N 1 - - RYR1 Arg614Cys R614C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 0 - - - - - - - - - - - - Y Y - Y 1.0 Y Y 8 Y 6 N 10 - - RYR1 Arg2163Cys R2163C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y 0.966 Y Y 8 Y 6 N 10 - - RYR1 Arg2163His R2163H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - Y 0.925 Y Y 1 - 6 N 10 - - RYR1 Arg2435His R2435H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y 0.998 Y Y 1 - 6 N 10 - - RYR1 Arg2458Cys R2458C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - RYR1 Arg2458His R2458H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - RYR1 Arg4861His R4861H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - RYR1 Gly341Arg G341R pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 1 1 - - - - - - 4 - 3 Y 4 Y Y Y - Y 0.998 Y Y 6 Y 6 N 10 2 0 Mutations in the RYRI gene are associated with the disorder malignant hypothermia, which leads to death under anesthesia, in otherwise normal individuals. The G341R mutation is responsible for a significant number of malignant hypothermia cases, even in heterozygous individuals. RYR1 Gly2434Arg G2434R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 6 Y 6 N 10 - - RYR1 Ile403Met I403M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y -1 - 6 N 10 - - RYR1 Ile4898Thr I4898T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.058 Y Y 3 - 4 N 10 - - RYR1 Met2423Lys M2423K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 5 - - RYR1 Pro3527Ser P3527S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.578 Y Y 3 - 5 N 10 - - RYR1 Ser3450Phe S3450F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - RYR1 Thr2206Met T2206M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y 0.69 Y Y 2 - 5 N 10 - - RYR1 Thr4637Ala T4637A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - RYR1 Thr4826Ile T4826I pathogenic High clinical importance, Likely pathogenic dominant Array 0 0 0 0 0 - - - - - - 5 - 4 Y 5 Y Y Y - - - Y Y 3 - 5 N 10 2 1 Mutations in RYR1 leads to complete susceptibility to Malignant Hypothermia RYR1 Tyr522Ser Y522S pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 1 - - - - - - - - - - 4 Y Y Y - - 1.0 Y Y 5 Y 6 Y 7 - - RYR1 is a gene on19q13.2 which encodes a skeletal muscle ryanodine receptor, which serves as a calcium release channel of the sarcoplasmic reticulum as well as a bridging structure connecting the sarcoplasmic reticulum and transverse tubule. Mutations to the gene result in malignant hypothermia which is characterized by death by anesthesia. In homozygous Y522S mutations, mice died as embryos. Heterozygous mice, corresponding to the human occurrence of this mutation, were susceptible to malignant hyperthermia and showed susceptibility to heat stress. RYR1 Tyr4796Cys Y4796C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.058 Y Y 6 Y 4 N 10 - - RYR1 Val2168Met V2168M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.255 Y Y 0 - 5 N 10 - - RYR1 Val4849Ile V4849I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.058 Y Y -4 - 4 N 10 - - RYR2 Ala4860Gly A4860G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - RYR2 Arg2474Ser R2474S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - RYR2 Arg4497Cys R4497C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - RYR2 Asn2386Ile N2386I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - RYR2 Asn4104Lys N4104K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - RYR2 Gln4201Arg Q4201R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - RYR2 Leu433Pro L433P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - RYR2 Pro2328Ser P2328S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - RYR2 Ser2246Leu S2246L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - RYR2 Val4653Phe V4653F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SAA1 Gly72Asp G72D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - SAA1 Val52Ala V52A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - SACS Ala3324Pro A3324P pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - 1 Y - - - - Y Y - - - Y Y 2 - 5 N 1 - - SACS Phe304Ser F304S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - SACS Trp1196Arg W1196R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - 1 Y - - - - Y Y - - - Y Y 7 Y 5 N 1 - - SACS Trp2498Arg W2498R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SALL1 Arg276Stop R276X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SALL1 Gln323Stop Q323X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SALL1 Leu419Stop L419X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - SALL4 Arg617Stop R617X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SALL4 Arg865Stop R865X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - SALL4 Arg905Stop R905X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SALL4 Gln652Stop Q652X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SALL4 His888Arg H888R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 8 - - SALL4 Lys175Stop K175X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SAMD9 Lys1495Glu K1495E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.97 - - 0 - 4 N - - SAMHD1 Arg145Stop R145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SAMHD1 Gln149Stop Q149X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SAMHD1 Gln548Stop Q548X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SAMHD1 Gly209Ser G209S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - SAMHD1 His123Pro H123P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 5 Y 4 N - - SAMHD1 Met254Val M254V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 0 - 4 N - - SAR1B Asp137Asn D137N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - -1 - 4 N - - SAR1B Glu122Stop E122X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SAR1B Gly37Arg G37R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 6 Y 4 N - - SAR1B Gly185Val G185V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.975 - - 8 Y 4 N - - SAR1B Ser179Arg S179R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - SART3 Val591Met V591M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 0 - 2 N - - SATB2 Arg239Stop R239X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SBDS Asn8Lys N8K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 1 - 6 N 10 - - SBDS Lys62Stop K62X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SBF2 Arg487Stop R487X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SBF2 Arg1196Stop R1196X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SBF2 Gln956Stop Q956X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SC5DL Arg29Gln R29Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 6 - - SC5DL Gly211Asp G211D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.272 Y - 4 Y 4 N 6 - - SC5DL Tyr46Ser Y46S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 4 - - SCARB2 Gln288Stop Q288X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SCARB2 Trp178Stop W178X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SCN1A Arg222Stop R222X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SCN1A Arg1648His R1648H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SCN1A Asp188Val D188V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - SCN1A Gln1489His Q1489H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - SCN1A Gln1489Lys Q1489K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - SCN1A Ile1656Met I1656M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - SCN1A Leu986Phe L986F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN1A Lys1270Thr K1270T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN1A Met145Thr M145T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SCN1A Phe1499Leu F1499L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - SCN1A Thr875Met T875M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SCN1A Thr1709Ile T1709I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN1A Trp1204Arg W1204R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SCN1A Val1353Leu V1353L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN1A Val1428Ala V1428A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SCN1A Val1611Phe V1611F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN1B Cys121Trp C121W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - SCN1B Glu87Gln E87Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 1 - - SCN2A Arg188Trp R188W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - SCN2A Arg223Gln R223Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 9 - - SCN2A Arg1319Gln R1319Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - SCN2A Leu1003Ile L1003I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.244 Y - -2 - 4 N 7 - - SCN2A Leu1330Phe L1330F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 0 - 5 N 10 - - SCN2A Leu1563Val L1563V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.914 Y - 0 - 5 N 10 - - SCN2A Val892Ile V892I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y - -4 - 5 N 6 - - SCN3B Leu10Pro L10P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.127 - - 7 Y 2 N - - SCN4A Ala1156Thr A1156T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 1 - 6 N 10 - - SCN4A Arg669His R669H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - SCN4A Arg672Gly R672G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - SCN4A Arg672His R672H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - SCN4A Arg672Ser R672S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - SCN4A Arg675Gln R675Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - SCN4A Arg675Gly R675G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 5 - - SCN4A Arg675Trp R675W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 2 - - SCN4A Arg1448Cys R1448C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - SCN4A Arg1448His R1448H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - SCN4A Asn1297Lys N1297K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 9 - - SCN4A Gly1306Ala G1306A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.839 Y Y 1 - 5 N 10 - - SCN4A Gly1306Glu G1306E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.918 Y Y 6 Y 6 N 10 - - SCN4A Gly1306Val G1306V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.837 Y Y 8 Y 5 N 10 - - SCN4A Ile141Val I141V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.74 Y Y -4 - 5 N 10 - - SCN4A Ile693Thr I693T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - SCN4A Ile1160Val I1160V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y -4 - 6 N 10 - - SCN4A Leu1433Arg L1433R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - SCN4A Met1476Ile M1476I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - SCN4A Met1592Val M1592V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - SCN4A Pro1158Ser P1158S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - SCN4A Ser804Phe S804F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.761 Y Y 5 Y 5 N 10 - - SCN4A Thr704Met T704M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 10 - - SCN4A Thr1313Met T1313M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 2 - 6 N 10 - - SCN4A Val445Met V445M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.572 Y Y 0 - 5 N 10 - - SCN4A Val1293Ile V1293I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.164 Y Y -4 - 4 N 10 - - SCN4A Val1442Glu V1442E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 5 Y 6 N 10 - - SCN4A Val1589Met V1589M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - SCN4B Leu179Phe L179F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - SCN5A Ala735Val A735V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SCN5A Ala997Ser A997S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - ! Y - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - The rare variant SCN5A-A997S does not appear to be a risk for cardiac arrhythmia in a case-control study. SCN5A Ala1924Thr A1924T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SCN5A Arg367His R367H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SCN5A Arg1193Gln R1193Q pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array rs41261344 1 128 0.0078125 1 0 1 4 4 2 Y - - 0 Y 0 Y 4 Y 3 - Y Y - - - Y Y 0 - 5 N 10 1 0 Proposed as a dominant cause of rare heart arrhythmia diseases (Brugada Syndrome and Long QT Syndrome). This has since been contradicted by the high frequency of this variant in the Han Chinese population. 14% of Chinese are carriers, contradicting this variant as a high penetrance cause of rare disease. It is possible the variant is associated with low increased risk of Long QT syndrome, but this is a speculative and untested hypothesis. SCN5A Arg1512Trp R1512W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SCN5A Arg1623Gln R1623Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN5A Arg1623Stop R1623X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SCN5A Arg1644His R1644H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SCN5A Arg1826His R1826H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SCN5A Asn1325Ser N1325S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN5A Asp1275Asn D1275N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - SCN5A Asp1595Asn D1595N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - SCN5A Asp1595His D1595H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN5A Asp1819Asn D1819N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 2 - - SCN5A Gln298Ser Q298S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - SCN5A Glu1053Lys E1053K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - 0 Y - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN5A Glu1784Lys E1784K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN5A Gly514Cys G514C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SCN5A Gly1262Ser G1262S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SCN5A Gly1408Arg G1408R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SCN5A Pro1298Leu P1298L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SCN5A Ser941Asn S941N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN5A Ser1103Tyr S1103Y pathogenic Insufficiently evaluated pathogenic other Array rs7626962 2 128 0.015625 3 0 3 4 4 2 Y 2 Y 5 Y 2 Y 1 Y 3 Y Y Y - Y - Y Y 5 Y SCN5A-Related Disorders 13 10 13 87 8.700 5 Y - - This is a common variant in individuals of African descent (African American allele frequency 6.8%). It is associated with an increased risk of cardiac arrhythmia (odds ratio of 8.7 for both homozygous and heterozygous carriers) and of sudden infant death syndrome (24-fold increase for homozygous). SCN5A Ser1710Leu S1710L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SCN5A Thr220Ile T220I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN5A Trp1421Stop W1421X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SCN5A Tyr1795Cys Y1795C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SCN5A Tyr1795His Y1795H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - SCN9A Arg277Stop R277X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SCN9A Arg996Cys R996C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - SCN9A Asn641Tyr N641Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.468 Y Y 5 Y 5 N 10 - - SCN9A Ile62Val I62V pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 2 Y 0 Y 3 - 1 - Y Y - - 0.92 Y Y -4 - 6 N 3 1 0 Reported by ClinVar to cause familial febrile seizures (https://www.ncbi.nlm.nih.gov/clinvar/variation/6368/). In ClinVar this variant is reported as "pathogenic" by OMIM. However, it is classified as "uncertain significance" by GeneDx. OMIM's submission refers to Singh et al 2009 (https://www.ncbi.nlm.nih.gov/pubmed/19763161), where this variant was observed in one of 92 patients with childhood febrile seizures. This patient was Hispanic/Latino; according to ExAC data, this variant is rare in all ancestries tested (less than 1 in 1,000 carry it) including Latino (http://exac.broadinstitute.org/variant/2-167168083-T-C). The statistical significance of Singh et al's observation is unclear, and may weak or absent. SCN9A Ile848Thr I848T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN9A Ile1461Thr I1461T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN9A Leu858His L858H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SCN9A Leu858Phe L858F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SCN9A Lys655Arg K655R benign Low clinical importance, Likely benign unknown Array 12 9638 0.00124507 0 0 0 1 0 1 Y - - 5 Y - - - - - - Y Y - - - Y Y -3 - 5 N 3 0 1 Singh et al. 2009 studied a large family with febrile seizures, linking this region as causal. Then, analyzing a panel of 92 patients with childhood febrile seizures, and 109 Dravet cases (total of 201 patients), they saw 3 carriers of this variant (once in former, twice in latter), and not it in 562 Caucasian control chromosomes (281 individuals). Neither patient nor control findings have a statistically significant difference the variant frequency according to ExAC data (where 1 in 173 are carriers). This paper was proposing a high penetrance hypothesis, but if this were true we would see a dramatic enrichment of the variant in patients. SCN9A Phe216Ser F216S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 5 Y 6 N 10 - - SCN9A Phe1449Val F1449V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN9A Pro149Gln P149Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.489 Y Y 4 Y 5 N 4 - - SCN9A Ser241Thr S241T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.841 Y Y -2 - 5 N 10 - - SCN9A Ser459Stop S459X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SCN9A Thr1464Ile T1464I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN9A Trp897Stop W897X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SCN9A Tyr328Stop Y328X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SCN9A Val1298Asp V1298D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - SCN9A Val1298Phe V1298F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCN9A Val1299Phe V1299F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SCNN1A Arg81Cys R81C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - SCNN1A Arg508Stop R508X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SCNN1A Ser562Leu S562L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 4 - - SCNN1A Trp493Arg W493R pathogenic Insufficiently evaluated pathogenic unknown Array rs5742912 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y - 7 Y 5 N 10 - - SCNN1A Val114Ile V114I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y - -4 - 5 N 8 - - SCNN1B Arg564Stop R564X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - SCNN1B Asn288Ser N288S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 0 - 5 N 2 - - SCNN1B Glu539Lys E539K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 3 - - SCNN1B Gly37Ser G37S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 2 - 5 N 10 - - SCNN1B Gly294Ser G294S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 3 - - SCNN1B Pro267Leu P267L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y - 7 Y 5 N 3 - - SCNN1B Pro369Thr P369T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.843 Y - 4 Y 4 N - - SCNN1B Pro615Ser P615S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - SCNN1B Pro616Arg P616R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 9 - - SCNN1B Pro616Leu P616L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 7 - - SCNN1B Ser82Cys S82C pathogenic Insufficiently evaluated pathogenic unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.481 Y - 3 - 4 N 4 - - SCNN1B Tyr618His Y618H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 1 - - SCNN1G Glu197Lys E197K pathogenic Low clinical importance, Uncertain pathogenic dominant Array rs5738 69 10758 0.00641383 1 0 1 2 2 ! Y ! Y 3 Y 0 Y 4 Y 1 - Y Y - - - Y - 0 - 4 N 0 0 May cause slight increased risk of rare, CFTR-like disease. SCNN1G Gly183Ser G183S pathogenic Insufficiently evaluated pathogenic other Array rs5736 132 10758 0.0122699 2 0 2 2 2 - - - - 0 Y - - 1 Y - - Y Y - - - Y - 2 - 4 N 1 - - This variant is associated with weak gain-of-function effect leading to bronchiectasis in one female of African origin. SCNN1G Trp574Stop W574X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SCO1 Pro174Leu P174L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - SCO2 Arg90Stop R90X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - SCO2 Arg171Trp R171W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - SCO2 Cys133Tyr C133Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 3 - - SCO2 Gln53Stop Q53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - SCO2 Glu140Lys E140K pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - SCO2 Ser225Phe S225F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 5 Y 5 N 7 - - SCO2 Trp36Stop W36X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SCYL1BP1 Arg262Stop R262X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SCYL1BP1 Glu123Stop E123X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SDC3 Thr271Ile T271I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - SDC3 Val150Ile V150I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - SDHA Ala524Val A524V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 2 - 5 N 5 - - SDHA Arg554Trp R554W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 10 - - SDHA Gly555Glu G555E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.637 Y - 6 Y 4 N 3 - - SDHA Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.651 Y - -3 - 4 N 9 - - SDHAF1 Arg55Pro R55P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 1 - - SDHAF1 Gly57Arg G57R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 1 - - SDHAF2 Gly78Arg G78R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 - Y 6 Y 5 N 2 - - SDHB Ala3Gly A3G pathogenic Insufficiently evaluated pathogenic dominant Array 149 10750 0.0138605 0 0 0 2 2 1 Y 0 Y 1 Y - - 2 Y 3 Y Y Y - - 0.028 Y Y 1 - 4 N 10 - - This variant is associated with Cowden-like Syndrome where it was found in Caucasian individual and not found in Caucasian controls. It is not associated with paraganglioma. SDHB Arg27Stop R27X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SDHB Arg46Gly R46G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - SDHB Arg90Stop R90X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SDHB Arg242His R242H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - SDHB Cys101Tyr C101Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 8 - - SDHB His132Pro H132P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - SDHB Pro197Arg P197R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - SDHB Ser100Phe S100F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 7 - - SDHB Ser163Pro S163P benign Low clinical importance, Uncertain benign unknown Array rs33927012 112 10758 0.0104109 1 0 1 2 2 1 Y - - 2 Y - - - - - - Y Y - - - Y Y 3 - 5 N 10 0 0 We evaluate as uncertain but presumed benign. One report linked this variant to Cowden-like syndromes, but the significance of their findings is unclear and other reports treat this as a non-pathological variation. SDHD Arg22Stop R22X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SDHD Arg38Stop R38X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SDHD Asp92Tyr D92Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SDHD Cys11Stop C11X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SDHD Gln36Stop Q36X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - SDHD Gly12Ser G12S benign Low clinical importance, Likely benign unknown Array rs34677591 87 10758 0.008087 2 0 2 2 2 1 Y 0 Y 4 Y - - - - - - Y Y - - - Y Y 2 - 5 N 10 0 1 Reported to increase risk of Cowden disease, although this was already contradicted by a prior report of it as a non-pathogenic polymorphism. The report claiming a pathogenic effect (Ni et al.) may have had errors in analysis, and their observation of the variant in patients isn't different from the frequency of the variant in ExAC data. SDHD His50Arg H50R benign Low clinical importance, Uncertain benign unknown Array 71 10758 0.00659974 0 0 0 4 4 - - - - 2 Y 0 Y - - - - Y Y - - 0.995 Y Y 1 - 6 N 10 0 0 Probably benign. Other mutations in this gene are implicated in causing hereditary paraganglioma or pheochromocytoma syndromes, but this variant is also found in unaffected controls and is considered a nonpathogenic polymorphism by most authors that have reported it. SDHD His102Leu H102L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - SDHD His145Asn H145N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.032 Y Y 0 - 4 N 1 - - SDHD Leu139Pro L139P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SDHD Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - SDHD Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - SDHD Pro81Leu P81L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - SDHD Ser32Stop S32X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - SDHD Trp5Stop W5X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - SDHD Trp43Stop W43X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SDHD Tyr114Cys Y114C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - SEC23A Phe382Leu F382L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.833 - - 0 - 3 N - - SEC23B Arg14Trp R14W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 7 Y 4 N - - SEC23B Arg217Stop R217X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SEC23B Arg264Stop R264X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SEC23B Arg324Stop R324X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SEC23B Arg530Trp R530W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - SEC23B Glu109Lys E109K pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 0 - 4 N - - SEC63 Trp58Stop W58X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SECISBP2 Arg540Gln R540Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - SECISBP2 Lys438Stop K438X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SEDL Leu131Stop L131X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - SEDL Phe83Ser F83S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 9 - - SEDL Ser110Stop S110X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - SELL Pro238Ser P238S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - SELP Thr715Pro T715P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - SEMA3E Ser703Leu S703L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SEMA4A Arg713Gln R713Q pathogenic Insufficiently evaluated pathogenic unknown Array rs41265017 398 10758 0.0369957 5 0 6 0 0 - - - - - - - - - - - - Y Y - - 0.553 Y - 0 - 4 N 7 - - SEMA4A Asp345His D345H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y - 3 - 5 N 8 - - SEMA4A Phe350Cys F350C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 7 - - SEPN1 Arg466Gln R466Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - SEPN1 Gly273Glu G273E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - SEPN1 Gly315Ser G315S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SEPN1 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - SEPN1 Trp453Ser W453S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - SEPT9 Arg88Trp R88W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SEPT9 Ser93Phe S93F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 8 - - SERPINA6 Asp367Asn D367N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - SERPINA6 Leu93His L93H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SERPINC1 Ala382Thr A382T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - SERPINC1 Ala384Pro A384P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - SERPINC1 Ala384Ser A384S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - SERPINC1 Ala387Val A387V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N - - SERPINC1 Ala404Thr A404T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - SERPINC1 Arg24Cys R24C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - SERPINC1 Arg47Cys R47C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - SERPINC1 Arg47His R47H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - SERPINC1 Arg47Ser R47S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - SERPINC1 Arg129Gln R129Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - SERPINC1 Arg129Stop R129X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SERPINC1 Arg393Cys R393C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 2 - - SERPINC1 Arg393His R393H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 2 - - SERPINC1 Arg393Pro R393P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - SERPINC1 Asn135Thr N135T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N - - SERPINC1 Asn187Asp N187D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.008 Y - -1 - 3 N 1 - - SERPINC1 Asp309Lys D309K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - SERPINC1 Cys95Arg C95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N - - SERPINC1 Gly392Asp G392D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N - - SERPINC1 Ile7Asn I7N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - SERPINC1 Leu99Phe L99F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - SERPINC1 Pro41Leu P41L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - SERPINC1 Pro407Leu P407L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - SERPINC1 Pro429Leu P429L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 7 Y 3 N - - SERPINC1 Ser116Pro S116P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 3 - 5 N 1 - - SERPINC1 Ser191Pro S191P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - SERPINC1 Ser291Pro S291P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - SERPINC1 Ser349Pro S349P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 1 - - SERPINC1 Ser394Leu S394L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - SETX Arg332Trp R332W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - SETX Arg1363Stop R1363X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SETX Arg2136His R2136H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SETX Gln868Stop Q868X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SETX Glu343Stop E343X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SETX Leu389Ser L389S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SETX Leu1976Arg L1976R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - SETX Leu1977Phe L1977F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - SETX Pro2213Leu P2213L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - SETX Thr3Ile T3I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SFTPA1 Arg219Trp R219W pathogenic Insufficiently evaluated pathogenic unknown Array 919 10750 0.0854884 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 7 Y 2 N - - SFTPA2 Gly231Val G231V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - SFTPA2 Phe198Ser F198S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - SFTPB Arg236Cys R236C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10670 0.000187441 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 8 Y 5 N 6 - - SFTPC Ala116Asp A116D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - SFTPC Arg167Gln R167Q pathogenic Insufficiently evaluated pathogenic unknown Array 45 10190 0.00441609 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - SFTPC Glu66Lys E66K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - SFTPC Ile73Thr I73T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - SFTPC Leu188Gln L188Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - SFTPC Leu194Pro L194P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - SGCA Arg77Cys R77C pathogenic Insufficiently evaluated pathogenic recessive Array rs28933693 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 8 Y 5 N 10 - - Limb Girdle Muscular Dystrophy SGCA Arg98His R98H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 2 - - SGCA Arg284Cys R284C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - SGCA Tyr134Stop Y134X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SGCA Val175Ala V175A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.053 Y - 2 - 3 N - - SGCB Arg91Leu R91L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 6 Y 5 N 1 - - SGCB Arg91Pro R91P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 1 - - SGCB Leu108Arg L108R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 6 Y 5 N 1 - - SGCB Met100Lys M100K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 1 - - SGCB Thr151Arg T151R pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 3 - 5 N 5 - - Limb Girdle Muscular Dystrophy SGCB Tyr184Stop Y184X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SGCD Arg165Stop R165X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SGCD Glu262Lys E262K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - SGCD Ser151Ala S151A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 9 - - SGCD Trp30Stop W30X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SGCE Arg97Stop R97X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SGCE Arg102Stop R102X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SGCE Arg372Stop R372X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - SGCE Leu196Arg L196R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 4 - - SGCG Cys283Tyr C283Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - SGCG Glu263Lys E263K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 0 - 5 N 8 - - SGSH Arg74Cys R74C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - SGSH Arg150Gln R150Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 3 - - SGSH Arg206Pro R206P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.407 Y - 5 Y 4 N 10 - - SGSH Arg245His R245H pathogenic Insufficiently evaluated pathogenic unknown Array 6 10734 0.000558971 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 1 - 5 N 10 - - SGSH Arg433Gln R433Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 3 - - SGSH Glu369Lys E369K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 3 - - SGSH Glu447Lys E447K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 6 - - SGSH Pro128Leu P128L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - SGSH Ser66Trp S66W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 Y - 7 Y 5 N 10 - - SH2D1A Arg32Thr R32T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - SH2D1A Arg55Leu R55L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - SH2D1A Arg55Stop R55X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SH2D1A Gln58Stop Q58X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SH2D1A Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 4 - - SH2D1A Pro101Leu P101L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SH2D1A Thr68Ile T68I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.961 Y Y 3 - 6 N 10 - - SH3BP2 Arg415Gln R415Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.944 Y Y 0 - 6 N 4 - - SH3BP2 Arg415Pro R415P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.975 Y Y 5 Y 6 N - - SH3BP2 Gly420Arg G420R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 10 - - SH3BP2 Gly420Glu G420E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 2 - - SH3BP2 Pro418Arg P418R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - SH3BP2 Pro418His P418H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 4 - - SH3BP2 Pro418Leu P418L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 3 - - SH3TC2 Arg529Gln R529Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 2 - - SH3TC2 Arg954Stop R954X pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SH3TC2 Arg1109Stop R1109X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SH3TC2 Glu657Lys E657K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 8 - - SH3TC2 Tyr943Stop Y943X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SHH Ala226Thr A226T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.548 Y Y 1 - 5 N 8 - - SHH Ala384Thr A384T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - SHH Asp88Val D88V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.314 Y Y 8 Y 5 N 10 - - SHH Gln100Stop Q100X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SHH Glu256Stop E256X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SHH Glu284Stop E284X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - SHH Gly31Arg G31R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.574 Y Y 6 Y 5 N 10 - - SHH Gly290Asp G290D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.031 Y Y 4 Y 4 N 5 - - SHH Ile111Phe I111F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 2 - 6 N 10 - - SHH Lys105Stop K105X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SHH Pro424Ala P424A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 2 - 4 N 6 - - SHH Trp117Arg W117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SHH Trp117Gly W117G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SHH Trp128Stop W128X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SHH Val224Glu V224E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 4 - - SHH Val332Ala V332A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.675 Y Y 2 - 5 N 2 - - SHOC2 Ser2Gly S2G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.867 Y - 2 - 5 N 10 - - SHOX Arg153Leu R153L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - SHOX Arg168Trp R168W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SHOX Arg173Cys R173C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - SHOX Arg195Stop R195X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SHOX Glu102Stop E102X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - SHOX Leu132Val L132V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - SHOX Tyr199Stop Y199X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - SHROOM4 Ser1089Leu S1089L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.125 - - 6 Y 2 N - - SI Cys1229Tyr C1229Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SI Gln117Arg Q117R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SI Gln1098Pro Q1098P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - SI Gly1073Asp G1073D pathogenic High clinical importance, Uncertain pathogenic recessive Array 16 10758 0.00148726 0 0 0 1 1 1 Y - - 0 Y - - 3 - 4 - - Y - - - - - 4 Y 3 N 2 0 Reported to cause congenital carbohydrate malabsorption (congenital sucrase-isomaltase deficiency) in a recessive manner. SI Leu340Pro L340P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SI Leu620Pro L620P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SI Phe1745Cys F1745C pathogenic Insufficiently evaluated pathogenic unknown Array 14 10738 0.00130378 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - SI Val577Gly V577G pathogenic Insufficiently evaluated pathogenic unknown Array 11 10756 0.00102268 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - SIL1 Arg111Stop R111X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - SIL1 Gln438Stop Q438X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SIL1 Leu457Pro L457P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.025 Y Y 7 Y 4 N 4 - - SIX1 Arg110Trp R110W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 5 - - SIX1 Trp122Arg W122R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 7 Y 6 N 5 - - SIX1 Tyr129Cys Y129C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - SIX3 Arg257Pro R257P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.744 Y Y 5 Y 5 N 10 - - SIX3 Gly69Asp G69D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 4 Y 4 N 2 - - SIX3 Leu226Val L226V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 0 - 4 N 10 - - SIX3 Trp113Cys W113C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.716 Y Y 7 Y 5 N 2 - - SIX3 Val250Ala V250A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y Y 2 - 6 N 9 - - SIX5 Ala158Thr A158T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10160 0.00019685 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y Y 1 - 4 N 3 - - SIX5 Ala296Thr A296T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10678 9.365e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.038 Y Y 1 - 4 N 4 - - SIX5 Gly365Arg G365R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.121 Y Y 6 Y 4 N 4 - - SIX5 Thr552Met T552M pathogenic Insufficiently evaluated pathogenic unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y Y 2 - 6 N 3 - - SIX6 Thr165Ala T165A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.937 Y Y 1 - 6 N 4 - - SLC11A2 Arg416Cys R416C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - SLC11A2 Glu399Asp E399D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.993 - - -2 - 4 N - - SLC11A2 Gly212Val G212V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - SLC12A1 Asp648Asn D648N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N - - SLC12A1 Trp625Stop W625X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SLC12A1 Val272Phe V272F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - SLC12A3 Ala588Val A588V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - SLC12A3 Arg209Trp R209W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 7 - - SLC12A3 Arg653Leu R653L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N - - SLC12A3 Arg655His R655H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 3 - - SLC12A3 Cys421Arg C421R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - SLC12A3 Gly630Val G630V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - SLC12A3 Leu623Pro L623P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 8 - - SLC12A3 Leu850Pro L850P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - SLC12A3 Pro349Leu P349L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - SLC12A6 Arg207Cys R207C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N - - SLC12A6 Arg675Stop R675X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SLC12A6 Arg1011Stop R1011X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - SLC16A1 Gly472Arg G472R pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SLC16A1 Lys204Glu K204E pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SLC16A12 Gln215Stop Q215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC16A2 Ala224Val A224V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 1 - - SLC16A2 Leu397Pro L397P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y - 7 Y 5 N 1 - - SLC16A2 Leu434Trp L434W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - SLC16A2 Leu512Pro L512P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 1 - - SLC16A2 Leu568Pro L568P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 4 - - SLC16A2 Ser448Stop S448X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - SLC17A5 Arg39Cys R39C pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - SLC17A5 His183Arg H183R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 5 - - SLC17A5 Lys136Glu K136E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y Y 0 - 6 N 10 - - SLC17A5 Pro334Arg P334R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 3 - - SLC17A8 Ala211Val A211V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.587 - - 2 - 3 N - - SLC19A2 Arg162Stop R162X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SLC19A2 Cys152Thr C152T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - SLC19A2 Gly172Asp G172D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y Y 4 Y 6 N 10 - - SLC19A2 Trp250Stop W250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SLC19A2 Trp358Stop W358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SLC19A3 Glu320Gln E320Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.882 Y - -2 - 5 N 1 - - SLC19A3 Gly23Val G23V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 6 - - SLC19A3 Lys44Glu K44E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 0 - 5 N - - SLC19A3 Thr422Ala T422A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 1 - 5 N 6 - - SLC1A3 Cys186Ser C186S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - SLC1A3 Pro290Arg P290R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 1 - - SLC22A12 Arg90His R90H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - SLC22A12 Glu298Asp E298D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - -2 - 5 N 2 - - SLC22A12 Gly361Val G361V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y - 8 Y 3 N 1 - - SLC22A12 Leu418Arg L418R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y - 6 Y 5 N 3 - - SLC22A12 Thr217Met T217M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.579 Y - 2 - 4 N 3 - - SLC22A12 Trp258Stop W258X pathogenic Moderate clinical importance, pathogenic recessive Array 0 0 0 4 4 2 Y 2 Y - - 5 Y 2 Y 4 Y Y Y - - - Y - 10 Y 5 Y 6 1 2 Homozygotes should avoid prolonged strenuous exercise. SLC22A1L Ser233Phe S233F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - SLC22A5 Arg169Gln R169Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 4 - - SLC22A5 Arg169Trp R169W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - SLC22A5 Arg254Stop R254X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SLC22A5 Arg282Stop R282X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - SLC22A5 Arg399Gln R399Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 9 - - SLC22A5 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - -1 - 5 N 8 - - SLC22A5 Pro478Leu P478L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - SLC22A5 Trp132Stop W132X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SLC22A5 Trp351Arg W351R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 7 Y 5 N 6 - - SLC22A5 Tyr211Cys Y211C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 5 - - SLC22A5 Tyr401Stop Y401X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - SLC24A5 Ala111Thr A111T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - SLC25A12 Gln590Arg Q590R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SLC25A13 Arg588Gln R588Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 2 - - SLC25A13 Ser225Stop S225X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SLC25A15 Arg179Stop R179X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SLC25A15 Arg275Gln R275Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 7 - - SLC25A15 Glu180Lys E180K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.818 Y - 0 - 4 N 9 - - SLC25A15 Gly27Arg G27R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 6 - - SLC25A15 Leu71Gln L71Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 5 Y 5 N 2 - - SLC25A15 Met37Arg M37R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 2 - - SLC25A15 Thr32Arg T32R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - SLC25A15 Thr272Ile T272I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 2 - - SLC25A19 Gly177Ala G177A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.654 - Y 1 - 4 N 10 - - SLC25A20 Arg166Stop R166X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SLC25A20 Gln238Arg Q238R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 2 - - SLC25A22 Pro206Leu P206L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - SLC25A3 Gly72Glu G72E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 2 - - SLC25A38 Arg117Stop R117X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC25A38 Arg187Pro R187P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 5 Y 4 N - - SLC25A38 Lys264Stop K264X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC25A4 Ala114Pro A114P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y - 2 - 3 N 6 - - SLC25A4 Ala123Asp A123D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 5 Y 5 N 2 - - SLC25A4 Asp104Gly D104G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.092 Y - 4 Y 3 N 10 - - SLC25A4 Leu98Pro L98P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 Y - 7 Y 3 N 3 - - SLC25A4 Val289Met V289M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 0 - 3 N 4 - - SLC26A2 Ala715Val A715V pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SLC26A2 Arg178Stop R178X pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 10758 9.2954e-05 0 0 0 5 5 3 Y 2 Y 0 - 0 - 4 - 2 - Y Y - - - Y Y 10 Y 6 N 10 2 0 The SLC26A2 gene encodes for the Diastrophic Dysplasia Sulfate Transporter, a 12-domain transmembrane protein that serves as a sulfate permease (sulfate/chloride transporter) across the cell membrane. Mutations within this gene have been associated with three skeletal disorders: Diastrophic Dysplasia (DTD), Achondrogenesis Type 1B (ACG1B), and A02. All of these disorders produce severe phenotypic effects, including defects in various bone and cartilage structures throughout the body. This variant, which results in a nonsense mutation (i.e., truncated protein), has been found in ACG1B patients across several different ethnic origins. Further analysis indicated that there was no detectable DTDST activity with this mutation. SLC26A2 Arg279Trp R279W pathogenic Insufficiently evaluated pathogenic unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SLC26A2 Asn425Asp N425D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 9 - - SLC26A2 Cys653Ser C653S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SLC26A2 Gln454Pro Q454P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 8 - - SLC26A2 Gly255Glu G255E pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 5 - - SLC26A2 Gly678Val G678V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - SLC26A2 Thr512Lys T512K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - SLC26A3 Gly187Stop G187X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SLC26A3 His124Leu H124L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - SLC26A3 Trp462Stop W462X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - SLC26A4 Ala372Val A372V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.94 Y Y 2 - 6 N 10 - - SLC26A4 Gln514Lys Q514K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y -2 - 6 N 4 - - SLC26A4 Glu29Gln E29Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.054 Y Y -2 - 4 N 10 - - SLC26A4 Glu384Gly E384G pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - SLC26A4 Gly209Val G209V pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - SLC26A4 His723Arg H723R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - SLC26A4 Leu236Pro L236P pathogenic Insufficiently evaluated pathogenic unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.022 Y Y 7 Y 4 N 10 - - SLC26A4 Leu445Trp L445W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 10 - - SLC26A4 Lys369Glu K369E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 0 - 6 N 10 - - SLC26A4 Phe335Leu F335L pathogenic Insufficiently evaluated pathogenic unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - SLC26A4 Phe667Cys F667C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 6 - - SLC26A4 Ser133Thr S133T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y -2 - 6 N 10 - - SLC26A4 Thr193Ile T193I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.433 Y Y 3 - 5 N 10 - - SLC26A4 Thr416Pro T416P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 4 Y 6 N 10 - - SLC26A4 Thr721Met T721M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 2 - 6 N 10 - - SLC26A4 Tyr530His Y530H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y -1 - 6 N 10 - - SLC26A4 Val138Phe V138F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 3 - 6 N 10 - - SLC27A4 Ala92Thr A92T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.729 - - 1 - 3 N - - SLC27A4 Arg583His R583H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - SLC27A4 Cys168Stop C168X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC27A4 Gln300Arg Q300R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 0 - 4 N - - SLC27A4 Ser247Pro S247P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 3 - 4 N - - SLC29A3 Gly427Ser G427S pathogenic Insufficiently evaluated pathogenic unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - SLC29A3 Gly437Arg G437R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - SLC2A1 Ala275Thr A275T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.128 Y Y 1 - 4 N 5 - - SLC2A1 Arg126His R126H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - SLC2A1 Arg126Leu R126L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 9 - - SLC2A1 Gly91Asp G91D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 4 Y 6 N 3 - - SLC2A1 Gly314Ser G314S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.869 Y Y 2 - 6 N 6 - - SLC2A1 Lys256Val K256V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 8 - - SLC2A1 Lys456Stop K456X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SLC2A1 Tyr449Stop Y449X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SLC2A10 Arg132Trp R132W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N - - SLC2A10 Gly426Trp G426W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 7 Y 5 N - - SLC2A10 Ser81Arg S81R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 3 - 5 N 1 - - SLC2A10 Trp170Stop W170X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SLC2A2 Arg301Stop R301X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SLC2A2 Arg365Stop R365X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SLC2A2 Gln287Stop Q287X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SLC2A2 Leu389Pro L389P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y - 7 Y 5 N 2 - - SLC2A2 Pro417Leu P417L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - SLC2A2 Trp420Stop W420X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SLC2A2 Val197Ile V197I pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y - -4 - 5 N 3 - - SLC2A2 Val423Glu V423E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 5 Y 5 N 1 - - SLC2A4 Val383Ile V383I pathogenic Insufficiently evaluated pathogenic unknown Array rs121434581 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - SLC2A9 Arg198Cys R198C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 8 Y 4 N - - SLC2A9 Arg380Trp R380W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - SLC2A9 Pro412Arg P412R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.235 - - 5 Y 3 N - - SLC33A1 Ser113Arg S113R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.992 - - 3 - 4 N - - SLC34A1 Ala48Phe A48F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - SLC34A1 Val147Met V147M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.138 - - 0 - 2 N - - SLC34A2 Gln76Stop Q76X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC34A2 Gly106Arg G106R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.636 - - 6 Y 3 N - - SLC34A3 Ala413Glu A413E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.688 Y - 3 - 4 N 1 - - SLC34A3 Arg353Leu R353L pathogenic Insufficiently evaluated pathogenic unknown Array 2 10732 0.000186358 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.347 Y - 6 Y 4 N 1 - - SLC34A3 Arg468Trp R468W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - SLC34A3 Gln252Gln Q252Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -11 - 4 N - - SLC34A3 Gly196Arg G196R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.134 Y - 6 Y 3 N 6 - - SLC34A3 Pro282Pro P282P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -12 - 4 N 1 - - SLC35C1 Arg147Cys R147C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - SLC35C1 Thr308Arg T308R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - SLC35D1 Trp311Stop W311X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC37A4 Arg28His R28H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N - - SLC37A4 Arg415Stop R415X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - SLC37A4 Glu355Stop E355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - SLC37A4 Gly339Asp G339D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 1 - - SLC37A4 Gly339Cys G339C pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 1 Y - - 3 Y - - 3 - 1 - Y Y - - - Y Y 7 Y 5 N 2 1 0 Reported to cause Glycogen Storage Disease type 1b in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000007330/), and comes from Gerin et al 1997 (PMID: 9428641) who saw this homozygous in one of two patients studied. The variant appears to be quite rare, consistent with this proposed effect. SLC37A4 Trp96Stop W96X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - SLC37A4 Trp118Arg W118R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 3 Y - - - - - - 3 Y - - Y Y - - - Y Y 7 Y 5 N 7 - - This variant was reported as a prevalent mutation in Japanese patients with Glycogen storage disease type Ib, a heterogeneous group of autosomal recessive disorders. SLC39A13 Gly74Asp G74D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 5 - - SLC39A4 Arg95Cys R95C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - SLC39A4 Asn106Lys N106K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - SLC39A4 Gln303His Q303H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - SLC39A4 Gly330Asp G330D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - SLC39A4 Gly374Arg G374R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SLC39A4 Gly526Arg G526R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SLC39A4 Pro200Leu P200L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SLC3A1 Arg181Gln R181Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.579 Y - 0 - 4 N 10 - - SLC3A1 Arg362His R362H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 3 - - SLC3A1 Leu678Pro L678P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.589 Y - 7 Y 4 N 6 - - SLC3A1 Met467Lys M467K pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 2 Y 0 - 0 Y 0 - - - 4 Y Y Y - - 1.0 Y - 4 Y Cystinuria 1 9 0 160 INF 5 N 10 - - SLC3A1 Pro615Thr P615T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 4 Y 5 N 5 - - SLC3A1 Thr652Arg T652R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y - 3 - 3 N 4 - - SLC40A1 Ala77Asp A77D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 5 Y 5 N 10 - - SLC40A1 Asn144His N144H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 0 - 5 N 10 - - SLC40A1 Asp157Gly D157G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 10 - - SLC40A1 Asp181Val D181V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 6 - - SLC40A1 Gln182His Q182H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 10 - - SLC40A1 Gly80Val G80V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 6 - - SLC40A1 Gly267Asp G267D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y - 4 Y 3 N 6 - - SLC40A1 Gly323Val G323V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - SLC45A2 Ala486Val A486V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.854 Y Y 2 - 6 N 2 - - SLC45A2 Asp157Asn D157N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 10 - - SLC45A2 Leu361Pro L361P pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.721 Y Y 7 Y 5 N 2 - - SLC45A2 Phe374Leu F374L benign Insufficiently evaluated benign unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - While some variants in the SLC45A2 gene have been associated with albinism, this variant is a benign human pigmentation variant, shown to be significantly associated with dark hair, skin, and eye color in Caucasians. SLC46A1 Arg113Cys R113C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 8 Y 4 N 3 - - SLC46A1 Arg113Ser R113S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 3 - 4 N 8 - - SLC46A1 Arg376Trp R376W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 4 - - SLC46A1 Ser318Arg S318R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 3 - 4 N 6 - - SLC4A1 Ala858Asp A858D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.127 Y - 5 Y 3 N 10 - - SLC4A1 Arg150Stop R150X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - SLC4A1 Arg589Cys R589C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - SLC4A1 Arg589His R589H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - SLC4A1 Arg589Ser R589S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - SLC4A1 Arg602Pro R602P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 1 - - SLC4A1 Arg646Gln R646Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 1 - - SLC4A1 Arg646Trp R646W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - SLC4A1 Arg760Gln R760Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 9 - - SLC4A1 Arg870Trp R870W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 5 - - SLC4A1 Gln330Stop Q330X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SLC4A1 Glu40Lys E40K pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs45562031 127 10758 0.0118052 1 0 1 1 1 ! Y - - 0 Y 0 Y 3 Y 3 Y Y Y - - 0.061 Y - 0 - 3 N 5 1 0 Rare and reported to cause hemolytic anemia in a recessive manner, although insufficient data is published to establish statistical significance. Polyphen 2 predicts a benign effect. SLC4A1 Glu90Lys E90K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - SLC4A1 Glu480Lys E480K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y - 0 - 3 N 2 - - SLC4A1 Glu658Lys E658K pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.016 Y - 0 - 3 N 1 - - SLC4A1 Gly130Arg G130R pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y - 6 Y 5 N 5 - - SLC4A1 Gly701Asp G701D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 10 - - SLC4A1 Gly771Asp G771D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 2 - - SLC4A1 Pro327Arg P327R pathogenic Insufficiently evaluated pathogenic unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 6 - - SLC4A1 Pro854Leu P854L pathogenic Insufficiently evaluated pathogenic unknown Array rs2285644 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y - 7 Y 5 N 3 - - SLC4A1 Pro878Leu P878L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - SLC4A1 Ser613Phe S613F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 5 Y 5 N 10 - - SLC4A1 Ser773Pro S773P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 3 - 5 N 10 - - SLC4A1 Thr837Ala T837A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.94 Y - 1 - 5 N - - SLC4A1 Val488Met V488M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y - 0 - 5 N 10 - - SLC4A1 Val557Met V557M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - SLC4A11 Arg488Lys R488K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.997 - - -3 - 4 N - - SLC4A11 Arg605Stop R605X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC4A11 Arg755Gln R755Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 0 - 4 N - - SLC4A11 Arg869Cys R869C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - SLC4A11 Arg869His R869H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - SLC4A11 Gly464Asp G464D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 4 Y 4 N - - SLC4A11 Leu843Pro L843P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 7 Y 4 N - - SLC4A11 Met856Val M856V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - SLC4A11 Ser213Pro S213P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 3 - 4 N - - SLC4A11 Ser489Leu S489L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 6 Y 4 N - - SLC4A4 Arg298Ser R298S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - SLC4A4 Arg510His R510H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - SLC4A4 Gln29Stop Q29X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SLC5A1 Asp28Asn D28N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -1 - 4 N - - SLC5A1 Asp28Gly D28G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 4 Y 4 N - - SLC5A2 Asn654Ser N654S pathogenic Low clinical importance, Uncertain pathogenic recessive Array rs61742739 76 10758 0.00706451 1 0 1 4 4 0 Y - - 3 - 0 Y 2 Y 0 - Y Y - - 0.776 Y - 0 - Renal Glucosuria 4 76 2 336 8.842 4 N 9 0 0 Some authors report this rare variant as a nonpathogenic polymorphism, others suggest it may cause renal glucosuria in a recessive manner when compound heterozygous with other pathogenic variants. SLC5A2 Trp440Stop W440X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - SLC5A5 Cys272Stop C272X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SLC5A5 Gln267Glu Q267E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - -2 - 5 N 10 - - SLC5A5 Gly93Arg G93R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 6 Y 5 N 10 - - SLC5A5 Gly395Arg G395R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - SLC5A5 Gly543Glu G543E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y - 6 Y 5 N 10 - - SLC5A5 Thr354Pro T354P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N 10 - - SLC5A5 Tyr531Stop Y531X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - SLC6A16 Arg240Stop R240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLC6A19 Asp173Asn D173N pathogenic High clinical importance, pathogenic recessive Array 26 10758 0.00241681 0 0 0 1 1 2 Y 1 Y 5 Y - - 3 - 4 Y Y Y - - 0.998 Y - -1 - 5 N 10 2 2 Causes Hartnup disorder in a recessive manner. This disorder involves difficulty in absorption of certain amino acids, causing symptoms of photosensitivity, tremor, and involuntary eye movements. These usually manifest after a period of poor nutrition, and the disorder can be treated with a high-protein diet. SLC6A2 Ala457Pro A457P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.157 - Y 2 - 3 N - - SLC6A4 Ile425Val I425V pathogenic Insufficiently evaluated pathogenic unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.218 Y Y -4 - 5 N 10 - - SLC6A5 Asn509Ser N509S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - Y 0 - 5 N 6 - - SLC6A5 Gly603Stop G603X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - SLC6A5 Leu306Val L306V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.3 - Y 0 - 4 N 2 - - SLC6A5 Thr425Met T425M pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 10758 9.2954e-05 1 0 1 1 1 1 Y 2 Y 1 Y - - 3 Y 3 Y Y Y - - 1.0 - Y 2 - SLC6A5-Related Hyperekplexia 1 82 0 200 INF 5 N 2 1 0 This variant is associated with hyperekplexia (a disorder of excessive startle reflect and stiffness), seen homozygously in a single family in a screen of 79 unrelated cases and not seen in 400 control chromosomes. This is not enough data to establish statistical significance, but the authors did find functional data supporting this variant as having an severe effect on the gene product. SLC6A5 Tyr377Stop Y377X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 1 - - SLC6A5 Tyr491Cys Y491C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 6 Y 5 N 2 - - SLC6A8 Arg514Stop R514X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - SLC6A8 Cys337Trp C337W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 9 - - SLC6A8 Cys491Trp C491W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 7 Y 6 N - - SLC6A8 Gly87Arg G87R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 9 - - SLC6A8 Gly132Val G132V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N - - SLC6A8 Gly381Arg G381R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - SLC7A7 Arg410Stop R410X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SLC7A7 Gly54Val G54V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - SLC7A7 Leu334Arg L334R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - SLC7A7 Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.78 Y Y -3 - 5 N 10 - - SLC7A7 Trp242Stop W242X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SLC7A9 Ala182Thr A182T pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 35 10758 0.00325339 1 0 1 3 3 ! Y 1 Y 1 Y - - 2 - 4 - Y Y - - - Y - 1 - Cystinuria 8 365 1 277 6.071 4 Y 9 1 0 Reported to cause cystinuria when homozygous, may also have symptoms when heterozygous. Although authors reporting the variant as confidently causal and it has some supporting functional evidence, we are unable to establish that the variant has statistical significance for this association. SLC7A9 Arg333Trp R333W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - SLC7A9 Gly105Arg G105R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 10 - - SLC7A9 Gly195Arg G195R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - SLC7A9 Gly259Arg G259R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y - 6 Y 5 N 8 - - SLC7A9 Ile44Thr I44T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 3 - 5 N 9 - - SLC7A9 Pro261Leu P261L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.801 Y - 7 Y 4 N 10 - - SLC7A9 Thr123Met T123M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - SLC7A9 Tyr232Cys Y232C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 8 - - SLC7A9 Val170Met V170M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y - 0 - 5 N 10 - - SLC9A3R1 Arg153Gln R153Q pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array rs41282065 37 10758 0.0034393 1 0 1 1 1 2 Y - - 0 Y 1 Y 3 Y - - - Y - - 0.976 - - 0 - 4 N 1 0 This variant was reported in a small family, associated with kidney stones. This gene is strongly associated with causing kidney stones and osteoporosis, and the variant is computationally predicted to be damaging, but the reported cases for this variant were too few to establish any statistical significance. SLC9A3R1 Glu225Lys E225K pathogenic Insufficiently evaluated pathogenic unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.987 - - 0 - 4 N - - SLC9A3R1 Leu110Val L110V pathogenic Insufficiently evaluated pathogenic unknown Array 118 8636 0.0136637 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.006 - - 0 - 2 N - - SLC9A6 Arg468Stop R468X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - SLC9A9 Arg423Stop R423X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLURP1 Arg96Stop R96X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SLURP1 Cys77Ala C77A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - SLURP1 Cys99Tyr C99Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.929 - - 6 Y 4 N - - SLURP1 Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.535 - - -3 - 3 N - - SLURP1 Trp15Arg W15R pathogenic Insufficiently evaluated pathogenic unknown Array 2 10744 0.00018615 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 7 Y 4 N - - SMAD4 Arg361Cys R361C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - SMAD4 Arg515Stop R515X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - SMAD4 Asp493His D493H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.466 Y Y 3 - 5 N 7 - - SMAD4 Gly352Arg G352R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - SMAD4 Gly358Stop G358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - SMAD4 Gly386Asp G386D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 1 - - SMAD4 Tyr412Stop Y412X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SMAD9 Cys202Stop C202X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SMARCAL1 Arg17Stop R17X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - SMARCAL1 Arg586Trp R586W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 7 Y 5 N 3 - - SMARCAL1 Arg645Cys R645C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 8 Y 5 N 4 - - SMARCAL1 Gln34Stop Q34X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - SMARCAL1 Glu848Stop E848X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 10 - - SMARCAL1 Ile548Asn I548N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.886 - Y 7 Y 5 N 2 - - SMARCB1 Gln12Stop Q12X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 Y 2 - - SMARCB1 Gln182Stop Q182X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - SMC1A Arg496His R496H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 5 - - SMC1A Glu493Ala E493A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 7 - - SMN1 Ala2Gly A2G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SMN1 Ala111Gly A111G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SMN1 Asp30Asn D30N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 7 - - SMN1 Asp44Val D44V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - SMN1 Gln136Glu Q136E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - SMN1 Gly95Arg G95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 7 - - SMN1 Gly279Val G279V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - SMN1 Ile116Phe I116F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SMN1 Ser262Gly S262G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - SMN1 Ser262Ile S262I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - SMN1 Thr274Ile T274I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SMN1 Trp102Stop W102X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SMN1 Tyr272Cys Y272C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SMN2 Gly287Arg G287R pathogenic Insufficiently evaluated pathogenic unknown Array 35 9524 0.00367493 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.914 Y Y 6 Y 6 N 5 - - SMOH Arg562Gln R562Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SMOH Trp535Leu W535L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - SMPD1 Arg441Stop R441X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SMPD1 Arg496Leu R496L pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - Niemann-Pick Disease SMPD1 Asn383Ser N383S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - SMPD1 Gln292Lys Q292K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - SMPD1 Gly242Arg G242R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 3 - - SMPD1 Gly577Ser G577S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - SMPD1 His421Tyr H421Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - SMPD1 Leu261Stop L261X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SMPD1 Leu302Pro L302P pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - Niemann-Pick Disease SMPD1 Met382Ile M382I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 5 - - SMPD1 Ser436Arg S436R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - SMPD1 Trp391Gly W391G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 9 - - SMS Gly56Ser G56S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.938 Y Y 2 - 6 N 10 - - SNCA Ala30Pro A30P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.64 Y Y 2 - 5 N 10 - - SNCA Ala53Thr A53T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SNCA Glu46Lys E46K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.86 Y Y 0 - 6 N 10 - - SNCAIP Arg621Cys R621C pathogenic Insufficiently evaluated pathogenic unknown Array 43 10758 0.00399703 0 0 0 2 2 - - - - - - - - - - - - Y Y - - - - Y 8 Y 4 N 10 - - Speculated to cause increased risk of Parkinson's disease, but later research concluded it is a nonpathogenic polymorphism. SNCB Pro123His P123H pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 2 10758 0.000185908 0 0 0 3 3 2 Y 3 Y 0 Y 1 Y 4 Y 2 Y - Y - - - - - 5 Y 3 N 1 0 Reported by ClinVar to cause Lewy body dementia (https://www.ncbi.nlm.nih.gov/clinvar/variation/7026/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, OMIM, which cites Ohtake et al 2004 (https://www.ncbi.nlm.nih.gov/pubmed/15365127). Ohtake et al found this variant in one of 43 patients screened, and hypothesized it causes a "dominant trait with reduced penetrance or a risk factor polymorphism". The statistical significance of this observation is unclear; this variant is moderately (but not extremely) rare: according to ExAC it is carried by roughly 1 in 1400 individuals (http://exac.broadinstitute.org/variant/5-176048219-G-T). There don't appear to be any publications since 2004 that have studied affected patients and confirmed Ohtake et al's hypothesis regarding this gene (SNCB) as a cause of this disease. SNCB Val70Met V70M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.362 - - 0 - 3 N - - SNTA1 Ala390Val A390V pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.129 - - 2 - 2 N - - SOD1 Ala4Thr A4T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SOD1 Ala4Val A4V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SOD1 Ala145Thr A145T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SOD1 Asp90Ala D90A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - SOD1 Asp96Asn D96N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - SOD1 Cys6Phe C6F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - SOD1 Glu21Lys E21K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SOD1 Glu100Gly E100G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SOD1 Gly12Arg G12R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SOD1 Gly16Ser G16S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SOD1 Gly37Arg G37R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SOD1 Gly41Asp G41D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - SOD1 Gly41Ser G41S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SOD1 Gly72Ser G72S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SOD1 Gly85Arg G85R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SOD1 Gly93Ala G93A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SOD1 Gly93Arg G93R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SOD1 Gly93Cys G93C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - SOD1 His43Arg H43R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SOD1 His46Arg H46R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - SOD1 His80Ala H80A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - SOD1 Ile104Phe I104F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - SOD1 Ile113Thr I113T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.665 Y Y 3 - 5 N 10 - - SOD1 Leu38Val L38V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SOD1 Leu84Val L84V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SOD1 Leu106Val L106V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SOD1 Leu126Stop L126X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SOD1 Leu144Ser L144S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - SOD1 Phe45Cys F45C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - SOD1 Ser134Asn S134N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - SOD1 Thr151Ile T151I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 7 - - SOD2 Ala16Val A16V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - SOD3 Arg213Gly R213G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SOS1 Arg552Gly R552G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 9 - - SOS1 Arg552Ser R552S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 1 - - SOS1 Met269Arg M269R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.909 Y Y 4 Y 6 N 7 - - SOS1 Thr266Lys T266K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.017 Y Y 3 - 4 N 5 - - SOST Arg126Stop R126X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SOST Trp124Stop W124X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SOX10 Ala157Val A157V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - 2 - 5 N - - SOX10 Gln250Stop Q250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SOX10 Gln377Stop Q377X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SOX10 Glu189Stop E189X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SOX10 Ser135Thr S135T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y - -2 - 5 N 10 - - SOX10 Ser251Stop S251X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SOX10 Tyr83Stop Y83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - SOX10 Tyr207Stop Y207X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - SOX10 Tyr313Stop Y313X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SOX18 Ala104Pro A104P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 2 - 5 N 10 - - SOX18 Cys240Stop C240X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - SOX18 Trp95Arg W95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N - - SOX2 Ala191Thr A191T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 9 - - SOX2 Arg74Pro R74P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - SOX2 Asn46Lys N46K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 2 - - SOX2 Gln55Stop Q55X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SOX2 Gln155Stop Q155X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SOX2 Gln177Stop Q177X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 2 2 - - - - - - - - 2 - - - Y Y - - - Y Y 10 Y 6 N 10 - - Associated with bilateral anopthalmia (absence of both eyes), cryptorchidism, micropenis, severe learning difficulties, mild facial dysmorphism. SOX2 Glu93Stop E93X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SOX2 Gly130Ala G130A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.265 Y Y 1 - 5 N 9 - - SOX2 Leu97Pro L97P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 9 - - SOX2 Ser83Stop S83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SOX9 Ala76Glu A76E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 3 - 6 N 10 - - SOX9 Ala158Thr A158T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y Y 1 - 6 N 10 - - SOX9 His165Tyr H165Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 5 - - SOX9 Lys173Glu K173E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.984 Y Y 0 - 6 N 2 - - SOX9 Phe154Leu F154L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 8 - - SOX9 Tyr440Stop Y440X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SPATA16 Arg283Gln R283Q pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.064 - - 0 - 2 N - - SPATA7 Arg108Stop R108X pathogenic Insufficiently evaluated pathogenic unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SPATA7 Arg395Stop R395X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - SPG11 Arg2034Stop R2034X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SPG3A Arg217Gln R217Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 7 - - SPG3A Arg239Cys R239C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - SPG3A Arg415Trp R415W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 2 - - SPG3A His258Arg H258R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 8 - - SPG3A Leu157Trp L157W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 6 - - SPG3A Met408Val M408V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 2 - - SPG3A Ser259Tyr S259Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 5 - - SPG4 Arg499Cys R499C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - SPG4 Arg562Gly R562G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 3 - - SPG4 Asn386Ser N386S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 8 - - SPG4 Asp441Gly D441G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 4 - - SPG4 Asp470Val D470V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 1 - - SPG4 Cys448Tyr C448Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 9 - - SPG4 Ile344Lys I344K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - SPG4 Lys229Stop K229X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - SPG4 Pro45Gln P45Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 10 - - SPG4 Ser44Leu S44L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - SPG4 Ser362Cys S362C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - SPG4 Ser445Arg S445R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 3 - - SPG7 Leu78Stop L78X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SPG7 Ser692Thr S692T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y -2 - 6 N 1 - - SPINK1 Asn34Ser N34S pathogenic Insufficiently evaluated pathogenic unknown Array 82 10758 0.00762223 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.02 Y - 0 - 3 N 10 - - SPINK1 Leu14Arg L14R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.87 Y - 6 Y 5 N 10 - - SPINK1 Leu14Pro L14P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 Y - 7 Y 5 N 10 - - SPINK1 Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 2 - 5 N 10 - - SPINK5 Arg790Stop R790X pathogenic Insufficiently evaluated pathogenic unknown Array 1 9590 0.000104275 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - SPINK5 Glu420Lys E420K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - SPINT2 Met1Leu M1L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.25 - - -3 - 3 N - - SPINT2 Tyr163Cys Y163C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - SPR Arg150Gly R150G pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - SPR Gln119Stop Q119X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SPR Lys251Stop K251X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 9 - - SPR Pro163Leu P163L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 5 - - SPRED1 Arg24Stop R24X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SPRED1 Arg64Stop R64X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SPRED1 Arg117Stop R117X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SPRED1 Arg262Stop R262X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - SPRED1 Gln213Stop Q213X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SPRED1 Gln215Stop Q215X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SPRED1 Val44Asp V44D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 6 - - SPTA1 Arg28Cys R28C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - SPTA1 Arg28His R28H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - SPTA1 Arg28Leu R28L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SPTA1 Arg28Ser R28S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - SPTA1 Arg41Trp R41W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SPTA1 Arg45Ser R45S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - SPTA1 Gln471Pro Q471P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - SPTA1 Gly46Val G46V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - SPTA1 Leu48Phe L48F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SPTA1 Leu207Pro L207P pathogenic Insufficiently evaluated pathogenic unknown Array 3 9780 0.000306748 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SPTA1 Leu260Pro L260P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SPTA1 Lys48Arg K48R pathogenic Insufficiently evaluated pathogenic unknown Array 2 9854 0.000202963 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - SPTA1 Ser261Pro S261P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - SPTB Ala2018Gly A2018G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - SPTB Ala2053Pro A2053P pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - SPTB Arg2064Pro R2064P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - SPTB Leu2025Arg L2025R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - SPTB Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SPTB Ser2019Pro S2019P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - SPTB Trp202Arg W202R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - SPTBN2 Leu253Pro L253P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - SPTLC1 Cys133Trp C133W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - SPTLC1 Cys133Tyr C133Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - SPTLC1 Gly387Ala G387A pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y Y 1 - 6 N 10 - - SPTLC1 Val144Asp V144D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - SQSTM1 Pro392Leu P392L pathogenic High clinical importance, Likely pathogenic dominant Array 16 10756 0.00148754 0 0 0 3 3 1 Y - - 5 Y - - 3 - 4 Y Y Y - - 0.228 Y - 7 Y 4 N 10 2 1 Associated with Paget's Disease of the Bone in a dominant manner, which causes abnormal growth of bone. Many carriers are asymptomatic, others present with bone pain, deformity, fractures, and associated complications (including hearing loss, osteoarthritis, and nerve compression). Susceptibility is related to age, with most (but not all) of older carriers (>60 years) reported to have symptoms of the disease. SRC Gln531Stop Q531X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - SRD5A2 Ala49Thr A49T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - SRD5A2 Ala228Thr A228T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - SRD5A2 Arg227Gln R227Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - SRD5A2 Arg227Stop R227X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - SRD5A2 Arg246Trp R246W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - SRD5A2 Glu197Asp E197D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 10 - - SRD5A2 Gly115Asp G115D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - SRD5A2 Gly183Ser G183S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - SRD5A2 Gly196Ser G196S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - SRD5A2 His231Arg H231R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 8 - - SRD5A2 Leu55Gln L55Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - SRD5A2 Pro212Arg P212R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - SRD5A2 Tyr26Stop Y26X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SRPX2 Asn327Ser N327S pathogenic Insufficiently evaluated pathogenic unknown Array 7 8761 0.000798995 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.061 - - 0 - 2 N - - SRPX2 Tyr72Ser Y72S pathogenic Insufficiently evaluated pathogenic unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.993 - - 5 Y 4 N - - SRY Ala113Thr A113T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.925 Y Y 1 - 6 N 10 - - SRY Arg133Trp R133W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 7 Y 6 N 10 - - SRY Gln2Stop Q2X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SRY Gln93Stop Q93X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SRY Gly95Arg G95R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 7 - - SRY Gly95Glu G95E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 2 - - SRY Ile68Thr I68T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.938 Y Y 3 - 6 N 10 - - SRY Ile90Met I90M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.868 Y Y -1 - 6 N 10 - - SRY Lys92Stop K92X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - SRY Lys106Ile K106I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 6 Y 6 N 8 - - SRY Met64Ile M64I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y -1 - 6 N 10 - - SRY Phe109Ser F109S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - SRY Ser18Asn S18N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 0 - 4 N 10 - - SRY Trp70Stop W70X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SRY Trp107Stop W107X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SRY Tyr4Stop Y4X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - SRY Tyr127Phe Y127F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.893 Y Y -4 - 6 N 9 - - SRY Val60Leu V60L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.751 Y Y 0 - 5 N 10 - - SSTR5 Arg240Trp R240W pathogenic Insufficiently evaluated pathogenic unknown Array 17 10726 0.00158493 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.993 - - 7 Y 4 N - - ST14 Gly827Arg G827R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 6 Y 4 N - - ST14 Met1Ile M1I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.82 - - -1 - 3 N - - ST3GAL5 Arg232Stop R232X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - STAR Arg182His R182H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - STAR Arg182Leu R182L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - STAR Arg188Cys R188C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.666 Y - 8 Y 4 N 10 - - STAR Arg217Thr R217T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - STAR Arg218Val R218V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - STAR Gln258Stop Q258X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - STAR Trp250Stop W250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - STAR Val187Met V187M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.843 Y - 0 - 4 N 2 - - STAT1 Gln463His Q463H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -1 - 4 N - - STAT1 Glu320Gln E320Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - -2 - 4 N - - STAT1 Leu600Pro L600P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - STAT1 Leu706Ser L706S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.013 - - 6 Y 2 N - - STAT3 Arg382Gln R382Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - STAT3 Arg382Trp R382W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - STAT3 Arg383Leu R383L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - STAT3 Arg423Gln R423Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.822 Y - 0 - 4 N 9 - - STAT3 Val637Met V637M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.976 Y - 0 - 5 N 10 - - STAT5B Ala630Pro A630P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.829 - - 2 - 3 N - - STAT5B Arg152Stop R152X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - STIL Gln1239Stop Q1239X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - STK11 Asp194Tyr D194Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - STK11 Glu57Stop E57X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - STK11 Glu170Stop E170X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - STK11 Gly135Arg G135R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - STK11 Gly163Asp G163D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 10 - - STK11 Leu67Pro L67P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - STK11 Lys84Stop K84X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - STK11 Phe354Leu F354L pathogenic Insufficiently evaluated pathogenic unknown Array rs59912467 42 10566 0.00397501 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.021 Y Y 0 - 4 N 10 - - STK11 Trp239Cys W239C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 7 - - STK11 Tyr36Stop Y36X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - STK11 Tyr49Asp Y49D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - STK11 Tyr246Stop Y246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - STK11 Tyr253Stop Y253X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 2 Y - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - STRA6 Arg655Cys R655C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - STRA6 Pro90Leu P90L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - STRA6 Pro293Leu P293L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.973 - - 7 Y 4 N - - STRA6 Thr321Pro T321P pathogenic High clinical importance, Uncertain pathogenic recessive Array 6 10752 0.000558035 0 0 0 1 0 1 Y - - ! Y 0 Y 4 Y 1 - - Y - - 0.995 - - 4 Y 4 N 2 0 Reported to cause syndromic microphthalmia, causing congenital abnormally small eyes and other malformations. This assertion is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000001197/) and comes from Pasutto et al 2007 (PMID: 17273977). Pasutto et al studied two consanguineous families and 13 additional cases with European ancestry; this variant was seen homozygously in one of the 13 alongside another missense variant in the same gene. It is unclear which of these two variants (if either) is causal, but the other variant (P90L) appears to be rarer, as it does not appear in ExAC data. In contrast, this variant has an allele frequency of 0.1% in European ancestry (1 in 500 are carriers). ExAC data strongly suggests that this variant, which is more common, is probably a non-causal coincidental observation. STRA6 Thr644Met T644M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 2 - 4 N - - STS Cys446Tyr C446Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 5 - - STS His444Arg H444R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 9 - - STS Ser341Leu S341L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 5 - - STS Trp372Arg W372R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - STS Trp372Pro W372P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 4 - - STX11 Gln268Stop Q268X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - STXBP1 Arg388Stop R388X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - STXBP1 Cys180Tyr C180Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 2 - - STXBP1 Gly544Asp G544D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N - - STXBP1 Met443Arg M443R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 4 Y 5 N - - STXBP1 Val84Asp V84D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 8 Y 5 N - - STXBP2 Leu209Pro L209P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N - - STXBP2 Pro477Leu P477L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 2 - - SUCLA2 Arg284Cys R284C pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.939 Y Y 8 Y 6 N - - SUCLA2 Gly118Arg G118R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N - - SUFU Pro15Leu P15L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.843 - - 7 Y 3 N - - SUMF1 Ala279Val A279V pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.494 Y - 2 - 4 N 10 - - SUMF1 Ala348Pro A348P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 2 - 5 N 9 - - SUMF1 Arg327Stop R327X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - SUMF1 Arg345Cys R345C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - SUMF1 Arg349Gln R349Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - SUMF1 Arg349Trp R349W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - SUMF1 Cys218Tyr C218Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 9 - - SUMF1 Cys336Arg C336R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - SUMF1 Met1Arg M1R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y - 4 Y 5 N 6 - - SUMF1 Met1Val M1V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.82 Y - 0 - 4 N 4 - - SUMF1 Ser155Pro S155P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 10 - - SUMF1 Ser359Stop S359X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - SUMO4 Met55Val M55V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - SUOX Ala208Asp A208D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 7 - - SUOX Arg160Gln R160Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - SUOX Gly473Asp G473D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 9 - - SUOX Ser370Tyr S370Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 5 - - SURF1 Gln251Stop Q251X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SURF1 Gly124Glu G124E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 8 - - SURF1 Tyr274Asp Y274D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - SYN1 Trp356Stop W356X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - SYNE1 Arg257His R257H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - SYNE1 Arg2906Stop R2906X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SYNE1 Gln7386Stop Q7386X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - SYNE1 Gln7640Stop Q7640X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - SYNE1 Glu646Lys E646K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - SYNE1 Val572Leu V572L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - SYNE2 Thr89Met T89M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - SYNGAP1 Arg579Stop R579X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SYNGAP1 Lys138Stop K138X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - SYP Gly217Arg G217R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.994 - - 6 Y 4 N - - TAC3 Met90Thr M90T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.105 - - 2 - 2 N - - TACR3 Gly93Asp G93D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.137 - - 4 Y 2 N - - TACR3 Pro353Ser P353S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - TACSTD2 Cys119Ser C119S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - - 3 - 4 N 4 - - TACSTD2 Gln118Stop Q118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - TACSTD2 Gln207Stop Q207X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 7 - - TACSTD2 Leu186Pro L186P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.924 - - 7 Y 4 N 10 - - TACSTD2 Met1Arg M1R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 5 - - TACSTD2 Ser170Stop S170X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 7 - - TAP1 Arg659Gln R659Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TAP1 Asp637Gly D637G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - TAP1 Ile333Val I333V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - TAP2 Ala665Thr A665T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - TAP2 Arg253Stop R253X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TAP2 Gln687Stop Q687X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TAP2 Ile379Val I379V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - TARDBP Ala315Thr A315T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.023 Y Y 1 - 4 N 10 - - TARDBP Asp169Gly D169G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.163 Y Y 4 Y 4 N 10 - - TARDBP Gln331Lys Q331K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.941 Y Y -2 - 6 N 10 - - TARDBP Gln343Arg Q343R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.929 Y Y 0 - 6 N 5 - - TARDBP Gly290Ala G290A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y Y 1 - 4 N 5 - - TARDBP Gly294Ala G294A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.013 Y Y 1 - 4 N 10 - - TARDBP Gly295Ser G295S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 2 - 4 N 10 - - TARDBP Gly298Ser G298S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 8 - - TARDBP Gly348Cys G348C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.753 Y Y 7 Y 5 N 10 - - TARDBP Met337Val M337V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 0 - 6 N 10 - - TAS2R16 Lys172Asn K172N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - TAS2R38 Val262Ala V262A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - Y Y 2 - 5 N - - TAT Arg57Stop R57X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TAT Arg417Stop R417X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - TAT Ser223Stop S223X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - TAZ Arg94Ser R94S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - TAZ Cys118Arg C118R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 6 - - TAZ Gly197Arg G197R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - TAZ Tyr51Stop Y51X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - TBCE Cys371Stop C371X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TBG Ala113Pro A113P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - TBG Ala191Thr A191T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - TBG Asp171Asn D171N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - TBG His331Tyr H331Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - TBG Ile96Asn I96N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TBG Leu227Pro L227P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TBG Leu283Phe L283F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TBG Pro363Leu P363L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TBG Trp280Stop W280X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TBG Tyr309Phe Y309F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - TBX1 Gly310Ser G310S pathogenic Insufficiently evaluated pathogenic unknown Array rs41298838 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.674 Y Y 2 - 5 N 4 - - TBX1 His194Gln H194Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 10 - - TBX1 Phe148Tyr F148Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.007 Y Y -4 - 4 N 5 - - TBX19 Arg286Stop R286X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - TBX19 Met86Arg M86R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 10 - - TBX19 Ser128Phe S128F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 7 - - TBX20 Gln195Stop Q195X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TBX20 Ile152Met I152M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -1 - 3 N - - TBX22 Asn264Tyr N264Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 4 - - TBX22 Glu56Stop E56X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - TBX22 Gly118Cys G118C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - TBX22 Leu214Pro L214P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 5 - - TBX22 Thr260Met T260M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 4 - - TBX3 Lys273Stop K273X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - TBX4 Gln62Stop Q62X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - TBX4 Gln531Arg Q531R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.427 Y - 0 - 4 N 4 - - TBX4 Gly248Val G248V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 4 - - TBX5 Arg237Gln R237Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - TBX5 Arg237Trp R237W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - TBX5 Gln49Lys Q49K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.08 Y Y -2 - 4 N 10 - - TBX5 Glu69Stop E69X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TBX5 Gly80Arg G80R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 10 - - TBX5 Ile54Thr I54T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y Y 3 - 4 N 10 - - TBX5 Tyr136Stop Y136X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - TBXA2R Arg60Leu R60L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 6 Y 4 N - - TBXAS1 Arg413Glu R413E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 2 - 3 N - - TBXAS1 Gly482Trp G482W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TBXAS1 Leu83Pro L83P pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TBXAS1 Leu488Pro L488P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TCAP Arg87Gln R87Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - TCAP Gln53Stop Q53X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TCF4 Arg358Stop R358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N - - TCF4 Arg574Pro R574P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 5 Y 4 N - - TCF4 Arg576Gln R576Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 0 - 4 N 2 - - TCF4 Arg576Trp R576W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N 2 - - TCIRG1 Arg444Leu R444L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - TCIRG1 Cys464Stop C464X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 4 - - TCIRG1 Gly405Arg G405R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - TCN2 Pro259Arg P259R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - TCOF1 Arg911Stop R911X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - TCOF1 Gln252Stop Q252X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - TCOF1 Tyr50Cys Y50C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 1 - - TDGF1 Pro125Leu P125L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - TDP1 His493Arg H493R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 1 - 5 N 10 - - TEAD1 Tyr421His Y421H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - -1 - 4 N - - TECTA Arg1890Cys R1890C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 8 - - TECTA Arg2021His R2021H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 1 - 5 N 9 - - TECTA Cys1057Ser C1057S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 6 - - TECTA Cys1619Ser C1619S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 10 - - TECTA Cys1837Arg C1837R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N - - TECTA Cys1837Gly C1837G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - TECTA Tyr1870Cys Y1870C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - TEK Arg849Trp R849W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 10 - - TEK Tyr897Ser Y897S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 5 Y 4 N 10 - - TERT Ala202Thr A202T pathogenic Insufficiently evaluated pathogenic unknown Array 2 10374 0.000192789 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.052 Y Y 1 - 4 N 5 - - TERT Arg865His R865H pathogenic Insufficiently evaluated pathogenic unknown Array 1 10742 9.3092e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.515 Y Y 1 - 5 N 6 - - TERT His412Tyr H412Y pathogenic Low clinical importance, Uncertain pathogenic dominant Array 28 10466 0.00267533 0 0 0 2 2 2 Y 1 Y 0 Y - - 4 - 3 - Y Y - - 0.978 Y Y -1 - 6 N 10 0 0 Hypothesized to cause increased risk of aplastic anemia, but no statistically significant data (this implies that if this variant causes increased risk, it is likely quite small -- too small to produce a significant enrichment). TERT Lys902Asn K902N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 3 - - TERT Tyr772Cys Y772C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.772 Y Y 6 Y 5 N 2 - - TERT Val694Met V694M pathogenic Insufficiently evaluated pathogenic unknown Array 2 10590 0.000188857 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.032 Y Y 0 - 4 N 4 - - TERT Val1090Met V1090M pathogenic Insufficiently evaluated pathogenic unknown Array 1 10458 9.562e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.012 Y Y 0 - 4 N 1 - - TF Ala477Pro A477P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.996 - - 2 - 4 N - - TF Asp77Asn D77N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - -1 - 4 N - - TF Glu375Lys E375K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TF Gly277Asp G277D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 4 Y 4 N - - TF Gly652Glu G652E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TF His300Arg H300R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - TF Lys627Glu K627E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TF Pro570Ser P570S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 3 3 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - TFAP2A Arg255Gly R255G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 4 - - TFAP2A Gly262Glu G262E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - TFAP2B Ala264Asp A264D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 5 Y 4 N - - TFAP2B Arg225Cys R225C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 8 Y 4 N 10 - - TFAP2B Arg225Ser R225S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 3 - 4 N 10 - - TFAP2B Arg274Gln R274Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 0 - 5 N 4 - - TFAP2B Arg289Cys R289C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 8 Y 4 N 1 - - TFAP2B Pro62Arg P62R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 5 Y 4 N 10 - - TFR2 Arg455Gln R455Q pathogenic Low clinical importance, Uncertain pathogenic undefined Array 25 10758 0.00232385 0 0 0 2 2 2 Y 0 Y 0 Y - - 4 Y 4 - Y Y - - 0.982 Y Y 0 - 6 N 10 0 0 Hypothesized to be increase risk or severity of hemochromatosis, but only speculations based on a couple sporadic observations (no statistical significance). TFR2 Gln690Pro Q690P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 4 Y 4 N 10 - - TFR2 Met172Lys M172K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y Y 4 Y 6 N 10 - - TFR2 Tyr250Stop Y250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - TG Arg277Stop R277X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TG Arg1511Stop R1511X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TG Arg1980Trp R1980W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - TG Arg2223His R2223H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - TG Arg2336Gln R2336Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 1 - - TG Cys1058Arg C1058R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TG Cys1245Arg C1245R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - TG Cys1897Tyr C1897Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 1 - - TG Cys1977Ser C1977S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TG Gln870His Q870H pathogenic Insufficiently evaluated pathogenic unknown Array rs2229843 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - -1 - 5 N 3 - - TG Gly2356Arg G2356R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - TG Met1027Val M1027V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - TGFB1 Arg218Cys R218C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - TGFB1 Arg218His R218H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TGFB1 Cys223Arg C223R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - TGFB1 Cys223Gly C223G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - TGFB1 Cys225Arg C225R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - TGFB1 Tyr81His Y81H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - TGFBI Arg124Cys R124C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - TGFBI Arg124His R124H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - TGFBI Arg124Leu R124L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - TGFBI Arg555Gln R555Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.316 Y - 0 - 4 N 10 - - TGFBI Arg555Trp R555W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y - 7 Y 5 N 10 - - TGFBI Arg666Ser R666S pathogenic Insufficiently evaluated pathogenic unknown Array 8 9792 0.000816993 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y - 3 - 3 N 1 - - TGFBI Gly623Asp G623D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 10 - - TGFBI Leu509Arg L509R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.96 Y - 6 Y 5 N 2 - - TGFBI Phe540Ser F540S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 3 - - TGFBI Pro501Thr P501T pathogenic Insufficiently evaluated pathogenic unknown Array 1 9764 0.000102417 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 10 - - TGFBR1 Arg487Gln R487Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 8 - - TGFBR1 Arg487Pro R487P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 9 - - TGFBR1 Arg487Trp R487W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - TGFBR1 Asp400Gly D400G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 7 - - TGFBR1 Gly174Val G174V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.286 Y Y 8 Y 5 N 1 - - TGFBR1 Met318Arg M318R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 4 Y 6 N 8 - - TGFBR1 Ser241Leu S241L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 9 - - TGFBR1 Thr200Ile T200I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 5 - - TGFBR2 Ala355Pro A355P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.672 Y Y 2 - 5 N 7 - - TGFBR2 Arg460Cys R460C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - TGFBR2 Arg460His R460H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - TGFBR2 Arg495Stop R495X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - TGFBR2 Arg528Cys R528C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - TGFBR2 Arg528His R528H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - TGFBR2 Arg537Cys R537C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - TGFBR2 Gln508Gln Q508Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -11 - 5 N 10 - - TGFBR2 Glu526Gln E526Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -2 - 6 N 6 - - TGFBR2 Gly357Trp G357W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 9 - - TGFBR2 Leu308Pro L308P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 7 Y 6 N 10 - - TGFBR2 Met425Val M425V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 9 - - TGFBR2 Pro427Leu P427L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 6 - - TGFBR2 Ser449Phe S449F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 5 Y 6 N 10 - - TGFBR2 Thr315Met T315M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 2 - 4 N 10 - - TGFBR2 Tyr336Asn Y336N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 9 - - TGIF Gln107Leu Q107L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 4 - - TGIF Pro63Arg P63R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - TGIF Ser28Cys S28C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 5 - - TGIF Ser162Phe S162F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 3 - - TGIF Thr151Ala T151A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 7 - - TGIF Tyr59Stop Y59X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 5 - - TGM1 Arg141His R141H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 8 - - TGM1 Arg142Cys R142C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 10 - - TGM1 Arg142His R142H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - TGM1 Arg286Gln R286Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 2 - - TGM1 Arg306Trp R306W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - TGM1 Arg323Gln R323Q pathogenic Insufficiently evaluated pathogenic unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 4 - - TGM1 Arg388His R388H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 6 - - TGM1 Arg395Leu R395L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 2 - - TGM1 Asn288Thr N288T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 9 - - TGM1 Asp490Gly D490G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 4 Y 6 N 4 - - TGM1 Gly17Ser G17S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N - - TGM1 Gly94Asp G94D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.044 Y Y 4 Y 4 N 1 - - TGM1 Gly278Arg G278R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 6 Y 6 N 4 - - TGM1 Gly392Asp G392D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 4 Y 6 N 1 - - TGM1 Ser42Tyr S42Y pathogenic Insufficiently evaluated pathogenic unknown Array 41 10758 0.00381112 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 0.981 Y Y 5 Y 6 N 2 - - TGM1 Ser160Cys S160C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 Y Y 3 - 6 N 2 - - TGM1 Val378Leu V378L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - TGM1 Val382Met V382M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 1 - - TGM1 Val518Met V518M benign Low clinical importance, Likely benign undefined Array rs35312232 122 10756 0.0113425 1 0 1 1 1 - - - - 4 Y 2 Y - - - - Y Y - - 0.634 Y Y 0 - 5 N 8 0 1 Probably a non-pathogenic polymorphism. It was initially thought to be involved in autosomal recessive congenital ichthyosis, but later authors found the variant in numerous healthy controls. TGM5 Gly113Cys G113C pathogenic Insufficiently evaluated pathogenic unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - TH Arg233His R233H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - TH Arg337His R337H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - TH Cys359Phe C359F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - TH Gln412Lys Q412K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -2 - 6 N 3 - - TH Leu236Pro L236P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.002 Y Y 7 Y 4 N 10 - - TH Thr276Pro T276P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.691 Y Y 4 Y 5 N 2 - - TH Thr314Met T314M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 4 - - TH Thr494Met T494M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 6 - - THAP1 Phe81Leu F81L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 1 - - THBD Ala25Thr A25T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 4 - - THBD Ala43Thr A43T pathogenic High clinical importance, Uncertain pathogenic dominant Array rs1800576 40 10428 0.00383583 2 0 3 1 1 0 Y 1 Y 0 Y 1 Y 4 Y 2 Y Y Y - - 0.001 Y Y 1 - 4 N 3 2 0 Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected. THBD Asp53Gly D53G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 4 Y 4 N 3 - - THBD Asp468Tyr D468Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - THBD Pro495Ser P495S pathogenic High clinical importance, Uncertain pathogenic dominant Array 12 10710 0.00112045 0 0 0 1 1 0 Y 1 Y 0 Y 0 Y 4 Y 2 Y Y Y - - 0.183 Y Y 3 - 4 N 4 2 0 Reported to cause familial hemolytic-uremic syndrome in a dominant manner, a potentially lethal illness in children. If true, penetrance is not 100%, but some family history of the illness might be expected. THRA Lys370Asn K370N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 1 - 4 N - - THRA Ser45Ile S45I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 5 Y 4 N - - THRA Ser377Leu S377L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.03 - - 6 Y 2 N - - THRAP2 Arg1872His R1872H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - THRAP2 Asp2023Gly D2023G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - THRAP2 Glu251Gly E251G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - THRB Ala234Thr A234T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.01 Y - 1 - 3 N 10 - - THRB Ala317Thr A317T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.009 Y - 1 - 3 N 10 - - THRB Arg243Gln R243Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 10 - - THRB Arg243Trp R243W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - THRB Arg316His R316H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 1 - 5 N 10 - - THRB Arg320Cys R320C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N - - THRB Arg320His R320H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 4 - - THRB Arg320Leu R320L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 6 Y 5 N 3 - - THRB Arg338Trp R338W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - THRB Arg383His R383H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - THRB Arg438His R438H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 1 - 5 N 10 - - THRB Asp322His D322H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.975 Y - 3 - 5 N 4 - - THRB Cys434Stop C434X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - THRB Cys446Arg C446R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 8 Y 5 N 10 - - THRB Gln340His Q340H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.141 Y - -1 - 3 N 4 - - THRB Gly332Arg G332R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 4 - - THRB Gly345Arg G345R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.942 Y - 6 Y 5 N 9 - - THRB Gly345Asp G345D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.571 Y - 4 Y 4 N 10 - - THRB Gly345Ser G345S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.57 Y - 2 - 4 N 7 - - THRB Gly345Val G345V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.669 Y - 8 Y 4 N 4 - - THRB Gly347Glu G347E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.979 Y - 6 Y 5 N 7 - - THRB Leu325Phe L325F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N - - THRB Leu450His L450H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.923 Y - 6 Y 5 N 4 - - THRB Lys443Glu K443E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y - 0 - 5 N 4 - - THRB Met310Thr M310T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 2 - 5 N 4 - - THRB Met442Val M442V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.403 Y - 0 - 4 N 4 - - THRB Phe459Cys F459C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 6 - - THRB Pro453His P453H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 5 Y 5 N 7 - - THRB Pro453Thr P453T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 10 - - THRB Thr337Ala T337A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.046 Y - 1 - 3 N 2 - - THRB Val458Ala V458A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.948 Y - 2 - 5 N 10 - - TIMM8A Arg80Stop R80X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TIMM8A Cys66Trp C66W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - TIMM8A Glu24Stop E24X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - TIMP3 Glu139Stop E139X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - TIMP3 Gly166Cys G166C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - TIMP3 Ser156Cys S156C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TIMP3 Ser181Cys S181C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TIMP3 Tyr168Cys Y168C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 3 - - TINF2 Arg282Cys R282C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 2 - - TINF2 Arg282His R282H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 10 - - TINF2 Arg282Ser R282S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - TINF2 Lys280Glu K280E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y Y 0 - 6 N 10 - - TJP2 Val48Ala V48A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y - 2 - 5 N 3 - - TK2 His163Asn H163N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - TK2 Ile95Met I95M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 4 - - TK2 Ile254Asn I254N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - TK2 Thr150Met T150M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 4 - - TLL1 Ile629Val I629V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.053 - - -4 - 2 N - - TLL1 Met182Leu M182L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.86 - - -3 - 4 N - - TLL1 Val238Ala V238A pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.562 - - 2 - 3 N - - TLR1 Ile602Ser I602S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 5 Y 3 N - - TLR2 Arg677Trp R677W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - TLR3 Pro554Ser P554S pathogenic Insufficiently evaluated pathogenic unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 3 - 4 N - - TLR4 Asp299Gly D299G pathogenic Insufficiently evaluated pathogenic unknown Array rs4986790 700 10758 0.0650679 4 0 4 0 0 - - - - - - - - - - - - - Y - - 0.006 - - 4 Y 2 N - - TLR4 Thr399Ile T399I pathogenic Insufficiently evaluated pathogenic unknown Array rs4986791 510 10758 0.0474066 1 0 1 0 0 - - - - - - - - - - - - - Y - - 0.016 - - 3 - 2 N - - TM4SF2 Gly218Stop G218X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - TM4SF2 Pro172His P172H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - TMC1 Arg34Stop R34X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TMC1 Asp572Asn D572N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - TMC1 Asp572His D572H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 9 - - TMC1 Cys515Arg C515R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - TMC1 Met654Val M654V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - TMEM126A Arg55Stop R55X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TMEM15 Cys99Ser C99S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N - - TMEM15 Tyr441Ser Y441S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N - - TMEM16E Cys356Arg C356R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 8 Y 3 N - - TMEM16E Cys356Gly C356G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TMEM43 Ser358Leu S358L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 6 Y 6 N 10 - - TMEM67 Arg208Stop R208X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - TMEM67 Gln376Pro Q376P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - TMEM67 Ser320Cys S320C pathogenic Insufficiently evaluated pathogenic other Array 11 10756 0.00102268 0 0 0 1 1 1 Y 1 Y - - - - 4 Y 4 Y Y Y - - 0.963 Y Y 3 - 6 N 1 - - This variant is associated with modifying a Bardet-Biedl Syndrome phenotype. TMEM67 Tyr513Cys Y513C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - TMIE Arg81Cys R81C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 7 - - TMIE Arg84Trp R84W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - TMIE Arg92Trp R92W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - TMPO Arg690Cys R690C pathogenic Insufficiently evaluated pathogenic unknown Array rs17028450 11 10750 0.00102326 2 0 2 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 8 Y 4 N - - TMPRSS3 Arg216Leu R216L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - TMPRSS3 Pro404Leu P404L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - TMPRSS3 Trp251Cys W251C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - TMPRSS6 Arg599Stop R599X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - TMPRSS6 Asp521Asn D521N pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 6 - - TMPRSS6 Gly442Arg G442R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 6 - - TMPRSS6 Tyr355Stop Y355X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - TMPRSS6 Tyr393Stop Y393X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - TNF Arg32Trp R32W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 7 Y 3 N - - TNF Leu29Ser L29S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TNFRSF11A Ala244Ser A244S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.834 Y - -1 - 4 N 1 - - TNFRSF11A Arg129Cys R129C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 8 Y 5 N 1 - - TNFRSF11A Arg170Gly R170G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.711 Y - 6 Y 4 N 1 - - TNFRSF11A Cys175Arg C175R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 1 - - TNFRSF11A Gly53Arg G53R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 1 - - TNFRSF11B Cys87Tyr C87Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TNFRSF11B Phe117Leu F117L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TNFRSF13B Ala181Glu A181E pathogenic Insufficiently evaluated pathogenic unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.063 Y Y 3 - 4 N 10 - - TNFRSF13B Arg202His R202H pathogenic Insufficiently evaluated pathogenic unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.512 Y Y 1 - 5 N 10 - - TNFRSF13B Cys104Arg C104R pathogenic Low clinical importance, Uncertain pathogenic dominant Array 43 10758 0.00399703 0 0 0 3 3 1 Y 2 Y 0 Y - - 3 - 3 - Y Y - - 1.0 Y Y 8 Y 6 N 10 0 0 Hypothesized to cause common variable immunodeficiency (CVID) in a dominant manner, but observations lack statistical significance and the frequency of people having this variant (0.8%) is much higher than the prevalence of the disease (0.002%). If this variant is associated with increased risk, carriers of this variant must still have an extremely low chance of developing CVID. Other genetic factors may be necessary. TNFRSF13B Ser144Stop S144X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - TNFRSF13B Ser194Stop S194X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - TNFRSF1A Arg92Pro R92P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - TNFRSF1A Cys30Arg C30R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TNFRSF1A Cys30Ser C30S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TNFRSF1A Cys33Gly C33G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - TNFRSF1A Cys33Tyr C33Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - TNFRSF1A Cys52Phe C52F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - TNFRSF1A Cys55Ala C55A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - TNFRSF1A Cys70Ser C70S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TNFRSF1A Cys88Arg C88R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TNFRSF1A Cys88Tyr C88Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - TNFRSF1A Thr50Met T50M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - TNFRSF6 Arg105Trp R105W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 2 - - TNFRSF6 Arg234Pro R234P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 2 - - TNFRSF6 Asn102Ser N102S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 1 - - TNFRSF6 Asn239Asp N239D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N 1 - - TNFRSF6 Asp244Tyr D244Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 2 - - TNFRSF6 Asp244Val D244V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 10 - - TNFRSF6 Cys162Arg C162R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 8 Y 3 N 1 - - TNFRSF6 Gln257Stop Q257X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 3 - - TNFRSF6 Gly231Ala G231A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 1 - - TNFRSF6 Thr225Pro T225P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 4 - - TNFRSF6 Thr254Ile T254I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 3 - - TNFRSF6 Tyr216Cys Y216C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 2 - - TNFSF11 Met199Lys M199K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 4 Y 5 N 2 - - TNNC1 Gly159Asp G159D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y Y 4 Y 6 N 10 - - TNNI2 Arg156Stop R156X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TNNI2 Arg174Gln R174Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 7 - - TNNI3 Ala171Thr A171T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.811 Y Y 1 - 5 N 3 - - TNNI3 Arg145Gly R145G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 6 Y 6 N 9 - - TNNI3 Arg145Trp R145W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 6 - - TNNI3 Arg192His R192H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 1 - 6 N 8 - - TNNI3 Asp190Gly D190G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 4 Y 6 N 4 - - TNNI3 Asp196Asn D196N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.697 Y Y -1 - 5 N 6 - - TNNI3 Leu144Gln L144Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 5 Y 6 N 4 - - TNNI3 Lys178Glu K178E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.89 Y Y 0 - 6 N 6 - - TNNI3 Lys206Gln K206Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y -2 - 6 N 10 - - TNNT1 Glu180Stop E180X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - TNNT2 Arg92Gln R92Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - TNNT2 Arg131Trp R131W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 7 - - TNNT2 Arg141Trp R141W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - TNNT2 Arg205Leu R205L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - TNNT2 Arg278Cys R278C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - TNNT2 Asp270Asn D270N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 5 - - TNNT2 Ile79Asn I79N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - TNNT2 Phe110Ile F110I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - TNNT3 Arg63His R63H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - TNXB Val1195Met V1195M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 0 - 4 N - - TOP1 Glu418Lys E418K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - TOP2 Arg486Lys R486K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - TP53 Ala138Pro A138P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.946 Y Y 2 - 6 N 10 - - TP53 Ala189Val A189V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.264 Y Y 2 - 5 N 5 - - TP53 Arg175His R175H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 1 Y - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - Associated with Li-Fraumeni syndrome-1. TP53 Arg248Gln R248Q pathogenic Insufficiently evaluated pathogenic dominant Array 1 10758 9.2954e-05 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - TP53 Arg248Trp R248W pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 0 2 Y 1 - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - TP53 Arg249Ser R249S pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 2 2 Y 1 - - - - - - - - - Y Y - - 1.0 Y Y 3 - Li-Fraumeni Syndrome 11 7 0 20 INF 6 N 10 - - TP53 Arg273His R273H pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.415 Y Y 1 - 5 N 10 - - TP53 Arg280Thr R280T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - TP53 Arg282Trp R282W pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 0 0 2 Y - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - TP53 Arg337His R337H pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 1 0 2 Y - - 5 Y - - - - - - Y Y - - 0.999 Y Y 1 - Li-Fraumeni Syndrome 35 1 0 22 INF 6 N 10 - - Associated with low penetrance of pediatric adrenocortical carcinoma (ACC) and Li-Fraumeni syndrome. TP53 Cys242Tyr C242Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 7 - - TP53 Glu258Lys E258K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - TP53 Glu285Val E285V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - TP53 Gly245Asp G245D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - TP53 Gly245Cys G245C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - TP53 Gly245Ser G245S pathogenic Insufficiently evaluated pathogenic dominant Array 1 10758 9.2954e-05 0 0 0 1 1 1 Y - - - - - - - - - - Y Y - - 0.999 Y Y 2 - Li-Fraumeni Syndrome 1 195 0 200 INF 6 N 10 - - TP53 Gly325Val G325V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.041 Y Y 8 Y 4 N 3 - - TP53 Leu35Phe L35F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - 0.003 Y Y 0 - 4 N 1 - - TP53 Leu252Pro L252P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 7 - - TP53 Leu257Gln L257Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 4 - - TP53 Leu344Pro L344P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 2 Y - - - - - - - - - - Y Y - - 0.565 Y Y 7 Y 5 N 10 - - TP53 Lys120Stop K120X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 1 Y - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - TP53 Lys292Ile K292I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.61 Y Y 6 Y 5 N 4 - - TP53 Met133Thr M133T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.148 Y Y 2 - 4 N 7 - - TP53 Pro151Ser P151S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.718 Y Y 3 - 5 N 10 - - TP53 Pro151Thr P151T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y Y 4 Y 6 N 4 - - TP53 Ser241Phe S241F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - TP53 Tyr220Ser Y220S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 8 - - TP53 Val157Phe V157F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y Y 3 - 6 N 8 - - TP53 Val272Leu V272L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 10 - - TP63 Arg97Cys R97C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.213 Y - 8 Y 4 N 3 - - TP63 Arg204Gln R204Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - TP63 Arg204Trp R204W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - TP63 Arg227Gln R227Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - TP63 Arg279His R279H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - TP63 Arg280Cys R280C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TP63 Arg298Gln R298Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TP63 Arg298Gly R298G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 2 - - TP63 Arg304Gln R304Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 6 - - TP63 Arg313Gly R313G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 8 - - TP63 Arg545Pro R545P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N - - TP63 Asn6His N6H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 7 - - TP63 Asp312Gly D312G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 3 - - TP63 Cys306Arg C306R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 3 - - TP63 Cys522Gly C522G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N - - TP63 Ile510Thr I510T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 4 - - TP63 Leu514Phe L514F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - TP63 Lys194Glu K194E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TP63 Val114Met V114M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 3 - - TPH2 Arg303Trp R303W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 2 - - TPH2 Arg441His R441H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - TPH2 Pro206Ser P206S pathogenic Insufficiently evaluated pathogenic unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.85 Y - 3 - 5 N 10 - - TPI1 Cys41Tyr C41Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TPI1 Glu104Asp E104D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -2 - 3 N - - TPI1 Glu145Stop E145X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TPI1 Gly122Arg G122R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TPI1 Ile170Val I170V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -4 - 3 N - - TPI1 Phe240Leu F240L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TPM1 Asp175Asn D175N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - TPM1 Glu40Lys E40K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - TPM1 Glu54Lys E54K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - TPM1 Glu180Gly E180G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - TPM1 Val95Ala V95A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - TPM2 Arg91Gly R91G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.863 Y Y 6 Y 6 N 7 - - TPM2 Arg133Trp R133W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - TPM2 Asn202Lys N202K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.253 Y Y 1 - 5 N 1 - - TPM2 Gln147Pro Q147P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - TPM2 Glu41Lys E41K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.023 Y Y 0 - 4 N 10 - - TPM2 Glu117Lys E117K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 0 - 6 N 8 - - TPM3 Arg168Cys R168C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - TPM3 Arg168Gly R168G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N - - TPM3 Arg168His R168H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 1 - - TPM3 Gln32Stop Q32X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - TPM3 Leu100Met L100M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N - - TPM3 Met9Arg M9R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - TPMT Ala80Pro A80P pathogenic Insufficiently evaluated pathogenic unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.995 - - 2 - 4 N - - TPMT Ala154Thr A154T pharmacogenetic Low clinical importance, Likely pharmacogenetic recessive Array rs1800460 302 10756 0.0280774 3 0 4 4 4 1 Y - - 5 Y - - 4 Y 5 Y - Y - - 0.667 - - 1 - 3 N 0 1 Usually this variant is found in combination Y240C, forming the TPMT*3A variant. When alone, this variant produces the *3B variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. TPMT Ala167Gly A167G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.006 - - 1 - 2 N - - TPMT Arg215His R215H pathogenic Insufficiently evaluated pathogenic unknown Array rs56161402 96 10756 0.00892525 2 0 2 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N 8 - - TPMT Tyr240Cys Y240C pharmacogenetic Low clinical importance, pharmacogenetic other Array rs1142345 496 10740 0.0461825 7 0 8 4 4 3 Y - - 5 Y 0 - 3 Y 5 Y - Y - Y 1.0 - - 6 Y 4 N 0 2 Alone, this variant is known as TPMT*3C -- but often, especially in Caucasians, it is found together with another nonsynonymous variant (A154T) to produce the TPMT*3A variant. Both variants are associated with loss of thiopurine methyltransferase (TPMT) activity, although *3C is milder than *3A. Inability to metabolize thiopurine drugs can lead to severe adverse reactions. Heterozygotes may be advised to take a reduced dosage due to reduced metabolism of the drug. TPO Arg540Stop R540X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - TPO Arg648Gln R648Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 7 - - TPO Arg693Trp R693W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - TPO Gln660Glu Q660E pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -2 - 5 N 5 - - TPO Glu799Lys E799K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.971 Y - 0 - 5 N 9 - - TPO Gly590Ser G590S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.555 Y - 2 - 4 N 1 - - TPO Ile447Phe I447F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 Y - 2 - 5 N 3 - - TPO Tyr453Asp Y453D pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 10 - - TPP1 Arg206Cys R206C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 4 - - TPP1 Arg208Stop R208X pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - TPP1 Arg447His R447H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - TPP1 Asn286Ser N286S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 0 - 6 N 8 - - TPP1 Cys365Arg C365R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 4 - - TPP1 Cys365Tyr C365Y pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - TPP1 Gly284Val G284V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.798 Y Y 8 Y 5 N 7 - - TREM2 Asp134Gly D134G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.735 Y Y 4 Y 5 N 4 - - TREM2 Gln33Stop Q33X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TREM2 Lys186Asn K186N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 Y Y 1 - 6 N 7 - - TREM2 Trp44Stop W44X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - TREM2 Trp78Stop W78X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - TREM2 Val126Gly V126G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 8 Y 6 N 1 - - TREX1 Arg114His R114H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TREX1 Arg164Stop R164X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TREX1 Asp18Asn D18N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - TREX1 Asp200Asn D200N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - TREX1 Val201Asp V201D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 5 - - TRHR Arg17Stop R17X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TRIM32 Arg394His R394H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 8 - - TRIM32 Asp487Asn D487N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - TRIM32 Pro130Ser P130S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y 3 - 4 N 10 - - TRIM37 Cys109Ser C109S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 3 - 5 N 1 - - TRIOBP Arg347Stop R347X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TRIOBP Arg788Stop R788X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10024 9.976e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TRIOBP Arg1068Stop R1068X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TRIOBP Arg1117Stop R1117X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TRIOBP Gln297Stop Q297X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TRIOBP Gln581Stop Q581X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TRKB Tyr722Cys Y722C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TRMU Gly272Asp G272D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.727 Y - 4 Y 4 N 1 - - TRMU Met1Lys M1K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y - 4 Y 5 N 3 - - TRMU Tyr77His Y77H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - -1 - 5 N 2 - - TRPC6 Arg895Cys R895C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - TRPC6 Asn143Ser N143S pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y - 0 - 5 N 10 - - TRPC6 Glu897Lys E897K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y - 0 - 5 N 10 - - TRPC6 Lys874Stop K874X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - TRPC6 Pro112Gln P112Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 4 Y 5 N 10 - - TRPC6 Ser270Thr S270T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y - -2 - 5 N 9 - - TRPM6 Arg56Stop R56X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - TRPM6 Arg484Stop R484X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - TRPM6 Ser141Leu S141L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y - 6 Y 5 N 10 - - TRPM6 Ser590Stop S590X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - TRPS1 Ala919Val A919V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.933 Y - 2 - 5 N 7 - - TRPS1 Arg611Stop R611X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - TRPS1 Arg840Stop R840X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - TRPS1 Arg908Gln R908Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 3 - - TRPS1 Arg952Cys R952C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 9 - - TRPS1 Arg952His R952H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 1 - 5 N 4 - - TRPS1 Cys338Stop C338X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - TRPS1 Thr901Pro T901P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 4 Y 5 N 3 - - TRPS1 Tyr1092Stop Y1092X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - TRPV4 Ala716Ser A716S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - -1 - 5 N 3 - - TRPV4 Arg594His R594H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 1 - 5 N 10 - - TRPV4 Arg616Gln R616Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 0 - 5 N 10 - - TRPV4 Asp333Gly D333G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y - 4 Y 5 N 3 - - TRPV4 Ile331Phe I331F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.966 Y - 2 - 5 N 2 - - TRPV4 Pro799Leu P799L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 2 - - TRPV4 Val620Ile V620I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.882 Y - -4 - 5 N 10 - - TSC Arg905Gly R905G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 6 Y 3 N 10 - - TSC Arg905Trp R905W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 10 - - TSC1 Cys165Stop C165X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TSC1 His732Tyr H732Y pathogenic Insufficiently evaluated pathogenic unknown Array 30 10758 0.00278862 0 0 0 2 1 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 5 - - TSC1 Leu180Pro L180P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 3 - - TSC1 Leu250Stop L250X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - TSC1 Lys585Arg K585R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 3 - - TSC1 Met224Arg M224R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - TSC2 Arg505Stop R505X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - TSC2 Arg611Gln R611Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - TSC2 Arg905Gln R905Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - TSC2 Gln478Stop Q478X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - TSC2 Gln1503Pro Q1503P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.831 Y Y 4 Y 5 N 3 - - TSC2 Glu366Stop E366X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - TSC2 Leu717Arg L717R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y 6 Y 6 N 5 - - TSC2 Lys12Stop K12X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TSC2 Pro1675Leu P1675L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - TSEN2 Tyr309Cys Y309C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 3 - - TSEN34 Arg58Trp R58W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 1 - - TSEN54 Ala307Ser A307S pathogenic High clinical importance, Likely pathogenic recessive Array 9 10716 0.000839865 0 0 0 1 1 1 Y - - 5 Y - - 5 - 1 - Y Y - - 0.834 Y Y -1 - 5 N 6 2 1 Causes pontocerebellar hypoplasia (a serious deformity in brain development) in a recessive manner. TSEN54 Gln246Stop Q246X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TSEN54 Gln343Stop Q343X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TSFM Arg333Trp R333W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 5 - - TSHB Gln49Stop Q49X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TSHB Glu12Stop E12X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - TSHB Gly29Arg G29R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - TSHR Ala553Thr A553T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - TSHR Ala623Ile A623I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - TSHR Arg109Gln R109Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TSHR Arg310Cys R310C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TSHR Asp36His D36H pathogenic Insufficiently evaluated pathogenic unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TSHR Asp410Asn D410N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -1 - 4 N 10 - - TSHR Asp619Gly D619G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - TSHR Asp633His D633H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TSHR Cys41Ser C41S pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TSHR Cys390Trp C390W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - TSHR Cys600Arg C600R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TSHR Cys672Tyr C672Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - TSHR Gln324Stop Q324X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - TSHR Gly431Ser G431S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - TSHR Ile167Asn I167N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - TSHR Leu467Pro L467P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - TSHR Leu629Phe L629F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TSHR Lys183Arg K183R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -3 - 4 N 10 - - TSHR Met453Thr M453T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - TSHR Phe525Leu F525L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 8 - - TSHR Phe631Leu F631L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TSHR Pro162Ala P162A pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - TSHR Pro639Ser P639S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TSHR Ser281Asn S281N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TSHR Ser281Ile S281I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - TSHR Ser505Asn S505N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - TSHR Thr477Ile T477I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N 10 - - TSHR Trp546Stop W546X pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - TSHR Val509Ala V509A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 10 - - TTC8 Thr153Thr T153T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -9 - 5 N - - TTDN1 Met144Val M144V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - TTID Ser39Phe S39F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 5 - - TTID Ser55Phe S55F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - TTID Ser60Cys S60C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 6 - - TTID Ser60Phe S60F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 10 - - TTID Ser95Ile S95I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 5 Y 3 N 6 - - TTID Thr57Ile T57I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 3 - 3 N 10 - - TTN Ala743Val A743V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 3 - - TTN Arg279Trp R279W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - TTN Arg740Leu R740L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 6 - - TTN Gln4053Stop Q4053X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TTN Leu34315Pro L34315P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - TTN Ser4465Asn S4465N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - TTN Trp930Arg W930R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 4 - - TTN Val54Met V54M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 4 - - TTPA Arg134Stop R134X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TTPA Arg192His R192H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 1 - 6 N 1 - - TTPA His101Gln H101Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.963 Y Y -1 - 6 N 5 - - TTR Ala36Pro A36P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - TTR Ala45Thr A45T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.985 Y Y 1 - 6 N 10 - - TTR Ala97Gly A97G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Ala109Thr A109T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Ala109Val A109V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 4 - - TTR Arg104His R104H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Asp18Gly D18G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 10 - - TTR Cys10Arg C10R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 8 Y 6 N 10 - - TTR Glu42Gly E42G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - TTR Glu61Lys E61K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 7 - - TTR Glu89Gln E89Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - TTR Gly6Ser G6S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - TTR Gly47Ala G47A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Gly53Glu G53E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - TTR His90Asn H90N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - TTR Ile68Leu I68L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -2 - 5 N 10 - - TTR Ile84Ser I84S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - TTR Ile107Val I107V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 5 - - TTR Leu12Pro L12P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - TTR Leu55Pro L55P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - TTR Leu58Arg L58R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - TTR Leu58His L58H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - TTR Leu111Met L111M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -3 - 5 N 10 - - TTR Lys70Asn K70N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Phe33Ile F33I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - TTR Phe33Leu F33L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - TTR Phe44Ser F44S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 1 - - TTR Phe64Leu F64L pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.241 Y Y 0 - 5 N 10 - - TTR Phe64Ser F64S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 5 Y 6 N 9 - - TTR Ser50Arg S50R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 10 - - TTR Ser50Ile S50I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - TTR Ser77Tyr S77Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 10 - - TTR Thr49Ala T49A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Thr60Ala T60A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 1 - 5 N 10 - - TTR Thr119Met T119M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - TTR Tyr69His Y69H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 8 - - TTR Tyr114Cys Y114C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 6 Y 5 N 10 - - TTR Tyr114His Y114H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 10 - - TTR Tyr116Val Y116V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - TTR Val20Ile V20I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - TTR Val30Ala V30A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 9 - - TTR Val30Gly V30G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 10 - - TTR Val30Leu V30L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - TTR Val30Met V30M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 10 - - TTR Val71Ala V71A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 6 - - TTR Val122Ile V122I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -4 - 5 N 10 - - TUBA1A Arg264Cys R264C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TUBA1A Arg402His R402H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - TUBA1A Arg422Cys R422C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 10 - - TUBA1A Arg422His R422H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 1 - 4 N 10 - - TUBA1A Ile188Leu I188L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -2 - 4 N 1 - - TUBA1A Leu397Pro L397P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - TUBA1A Pro263Thr P263T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 1 - - TUBA1A Ser419Leu S419L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - TUBB1 Arg318Trp R318W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - TUBB2B Leu228Pro L228P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.912 Y - 7 Y 5 N 2 - - TUBB2B Phe265Leu F265L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.035 Y - 0 - 3 N 2 - - TUBB2B Ser172Pro S172P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.87 Y - 3 - 5 N 2 - - TUFM Arg339Gln R339Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 0 - 3 N 4 - - TULP1 Arg420Pro R420P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 5 Y 6 N 6 - - TULP1 Arg482Trp R482W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - TULP1 Ile459Lys I459K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.378 Y Y 6 Y 5 N 3 - - TULP1 Phe382Ser F382S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - TULP1 Phe491Leu F491L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 6 - - TWIST1 Ala186Thr A186T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.325 Y Y 1 - 5 N 1 - - TWIST1 Gln28Stop Q28X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - TWIST1 Gln71Stop Q71X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - TWIST1 Gln119Pro Q119P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 1 - - TWIST1 Glu130Stop E130X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TWIST1 Glu181Stop E181X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - TWIST1 Ile156Val I156V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.991 Y Y -4 - 6 N 2 - - TWIST1 Leu135Pro L135P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N - - TWIST1 Ser127Stop S127X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TWIST1 Ser188Leu S188L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.541 Y Y 6 Y 5 N 3 - - TWIST1 Tyr103Stop Y103X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - TWIST1 Tyr107Stop Y107X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - TXNDC3 Leu426Stop L426X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N - - TYMP Arg44Gln R44Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 1 - - TYMP Arg202Thr R202T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 1 - - TYMP Glu289Ala E289A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 1 - - TYMP Gly145Arg G145R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 1 - - TYMP Gly153Ser G153S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 2 - 6 N 1 - - TYMP Gly311Arg G311R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 1 - - TYMP Leu285Pro L285P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 1 - - TYMP Lys222Ser K222S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 1 - - TYMP Val208Met V208M pathogenic Insufficiently evaluated pathogenic unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 0 - 6 N 1 - - TYR Ala206Thr A206T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.021 Y Y 1 - 4 N 6 - - TYR Arg59Gln R59Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 5 - - TYR Arg77Gln R77Q pathogenic Insufficiently evaluated pathogenic unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - TYR Arg217Trp R217W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.005 Y Y 7 Y 4 N 10 - - TYR Arg299His R299H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - TYR Arg403Ser R403S pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.776 Y Y 3 - 5 N 7 - - TYR Arg422Gln R422Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.993 Y Y 0 - 6 N 10 - - TYR Asn371Thr N371T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 5 - - TYR Asn382Lys N382K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 2 - - TYR Asp42Gly D42G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 4 Y 6 N 5 - - TYR Asp365Asn D365N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y -1 - 5 N 7 - - TYR Asp448Asn D448N pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y Y -1 - 6 N 4 - - TYR Cys55Tyr C55Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - TYR Cys89Arg C89R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 9 - - TYR Gly47Asp G47D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 4 Y 6 N 10 - - TYR Gly191Asp G191D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 4 Y 4 N 3 - - TYR Gly419Arg G419R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.972 Y Y 6 Y 6 N 5 - - TYR Gly446Ser G446S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.899 Y Y 2 - 6 N 6 - - TYR Leu216Met L216M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.074 Y Y -3 - 4 N 8 - - TYR Met1Val M1V pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 10758 0.000092954 0 0 0 1 0 3 Y - - 0 Y - - 3 - 1 - Y Y - - 0.992 Y Y 0 - 6 N 10 1 0 Reported to cause oculocutaneous albinism in a recessive manner. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004011/), and comes from Fukai et al 1995 (PMID: 7704033) who found this variant carried heterozygously by one of 12 patients studied. TYR Met96Asn M96N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - TYR Pro21Ser P21S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.992 Y Y 3 - 6 N 10 - - TYR Pro81Leu P81L pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - TYR Pro406Leu P406L pathogenic Insufficiently evaluated pathogenic unknown Array 39 10758 0.00362521 0 0 0 5 5 - - - - - - - - - - - - Y Y - - 0.996 Y Y 7 Y 6 N 10 - - Reported to cause albinism in a recessive manner TYR Thr355Lys T355K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 2 - - TYR Trp178Stop W178X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - TYR Trp236Stop W236X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 8 - - TYR Val275Phe V275F pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.025 Y Y 3 - 4 N 9 - - TYROBP Met1Thr M1T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.986 Y Y 2 - 6 N - - TYRP1 Arg373Stop R373X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 5 - - TYRP1 Ser166Stop S166X pathogenic Insufficiently evaluated pathogenic unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - UBE1 Asn577Asn N577N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -11 - 3 N - - UBE1 Met539Ile M539I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - -1 - 3 N - - UBE1 Ser547Gly S547G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 2 - 3 N - - UBE2A Gln128Stop Q128X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - UBE3A Arg417Stop R417X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - UBE3A Ile130Thr I130T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 5 - - UBE3A Thr106Pro T106P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 5 - - UBE3A Trp768Stop W768X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - UBIAD1 Arg119Gly R119G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 6 Y 4 N 1 - - UBIAD1 Asn102Ser N102S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 - - 0 - 4 N 10 - - UBIAD1 Asn232Ser N232S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - 0 - 4 N 1 - - UBIAD1 Asp112Gly D112G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 4 Y 4 N 1 - - UBIAD1 Asp236Glu D236E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 - - -2 - 4 N 6 - - UBIAD1 Gly177Arg G177R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 - - 6 Y 4 N 10 - - UBIAD1 Gly186Arg G186R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.97 - - 6 Y 4 N 6 - - UBIAD1 Ser171Pro S171P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.982 - - 3 - 4 N 10 - - UBIAD1 Thr175Ile T175I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.964 - - 3 - 4 N 6 - - UBR1 Gln513Stop Q513X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - UBR1 His136Arg H136R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 1 - 4 N - - UCHL1 Ile93Met I93M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.672 - Y -1 - 4 N 10 - - UCP3 Arg143Stop R143X pathogenic Insufficiently evaluated pathogenic unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - UGT1A1 Arg341Stop R341X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - UGT1A1 Asn400Asp N400D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y Y - Y - Y - -1 - 4 N 10 - - UGT1A1 Cys1Stop C1X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - UGT1A1 Gln331Arg Q331R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 9 - - UGT1A1 Gln331Stop Q331X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - UGT1A1 Gln357Arg Q357R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 10 - - UGT1A1 Gly309Glu G309E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - UGT1A1 Leu15Arg L15R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 10 - - UGT1A1 Leu175Gln L175Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - UGT1A1 Pro229Gln P229Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 4 Y 4 N 10 - - UGT1A1 Ser376Phe S376F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 5 Y 4 N 10 - - UGT1A1 Tyr486Asp Y486D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 10 - - UMOD Asn128Ser N128S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y Y 0 - 6 N 8 - - UMOD Cys77Tyr C77Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 8 - - UMOD Cys126Arg C126R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 8 - - UMOD Cys148Tyr C148Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - UMOD Cys217Arg C217R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 5 - - UMOD Cys255Tyr C255Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 6 Y 6 N 10 - - UMOD Cys300Gly C300G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 3 - - UMOD Cys315Arg C315R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 8 Y 6 N 5 - - UMOD Gly103Cys G103C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.8 Y Y 7 Y 5 N 5 - - UMOD Val273Phe V273F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.81 Y Y 3 - 5 N 3 - - UMPS Val109Gly V109G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.8 Y - 8 Y 4 N 8 - - UNC13D Arg256Stop R256X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - UNC13D Leu403Pro L403P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.973 Y Y 7 Y 6 N 1 - - UNC13D Phe857Cys F857C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 3 - - UNG Phe251Ser F251S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 5 Y 5 N 10 - - UPB1 Ala85Glu A85E pathogenic Insufficiently evaluated pathogenic unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.03 Y - 3 - 3 N 10 - - UPB1 Arg70Pro R70P pathogenic Insufficiently evaluated pathogenic unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 5 Y 5 N 4 - - UPF3B Arg430Stop R430X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - UPF3B Tyr160Asp Y160D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 3 - - UPK3A Gly202Asp G202D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.955 - - 4 Y 4 N - - UPK3A Pro273Leu P273L pathogenic Insufficiently evaluated pathogenic unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.988 - - 7 Y 4 N - - UQCRQ Ser45Phe S45F pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.688 - - 5 Y 3 N - - UROC1 Arg450Cys R450C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 8 Y 4 N - - UROC1 Leu70Pro L70P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.001 - - 7 Y 2 N - - UROD Arg292Gly R292G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - UROD Arg332His R332H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.917 Y - 1 - 5 N 6 - - UROD Asn304Lys N304K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 1 - 5 N 4 - - UROD Glu167Lys E167K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 3 - - UROD Glu314Glu E314E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - -10 - 4 N 6 - - UROD Gly281Glu G281E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 6 Y 5 N 10 - - UROD Gly281Val G281V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 1 - - UROD Leu195Phe L195F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y - 0 - 5 N 4 - - UROD Met165Arg M165R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 4 - - UROD Pro62Leu P62L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 4 - - UROD Tyr311Cys Y311C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 8 - - UROS Ala66Val A66V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.897 Y - 2 - 5 N 10 - - UROS Cys73Arg C73R pathogenic Insufficiently evaluated pathogenic unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 8 Y 5 N 10 - - UROS Glu81Asp E81D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.003 Y - -2 - 3 N 1 - - UROS Gly188Arg G188R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 6 Y 5 N 7 - - UROS Gly188Trp G188W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 1 - - UROS Gly225Ser G225S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y - 2 - 5 N 7 - - UROS Leu4Phe L4F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.968 Y - 0 - 5 N 10 - - UROS Pro53Leu P53L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 1 - - UROS Pro248Gln P248Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 10 - - UROS Thr62Ala T62A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 1 - 5 N 4 - - UROS Thr228Met T228M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 2 - 5 N 7 - - UROS Val82Phe V82F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.184 Y - 3 - 3 N 3 - - USH1C Arg31Stop R31X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - USH1C Arg608Pro R608P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 2 - - USH1G Leu48Pro L48P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y Y 7 Y 6 N 5 - - USH1G Trp38Stop W38X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - USH2A Arg737Stop R737X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - USH2A Arg4674Gly R4674G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 2 - - USH2A Cys319Tyr C319Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - USH2A Cys419Phe C419F pathogenic Insufficiently evaluated pathogenic unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - USH2A Cys759Phe C759F pathogenic Insufficiently evaluated pathogenic unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 10 - - USH2A Leu260Stop L260X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - USH2A Trp3955Stop W3955X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 4 - - USH3A Asn48Lys N48K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 1 - 3 N 10 - - USH3A Cys40Gly C40G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 1 - - USH3A Leu150Pro L150P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 7 Y 3 N 9 - - USH3A Met120Lys M120K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 4 Y 3 N 9 - - USH3A Tyr63Stop Y63X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 5 - - USH3A Tyr176Stop Y176X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 10 - - VANGL1 Arg274Gln R274Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y - 0 - 5 N 10 - - VANGL1 Met328Thr M328T pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.189 Y - 2 - 3 N 10 - - VANGL1 Val239Ile V239I pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.049 Y - -4 - 3 N 10 - - VAPB Pro56Ser P56S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 10 - - VCL Arg975Trp R975W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.746 Y Y 7 Y 5 N 10 - - VCP Ala232Glu A232E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.001 Y Y 3 - 4 N 10 - - VCP Arg95Gly R95G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.98 Y Y 6 Y 6 N 10 - - VCP Arg155Cys R155C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - VCP Arg155His R155H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 1 - 6 N 10 - - VCP Arg155Pro R155P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 5 Y 6 N 10 - - VCP Arg159His R159H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.208 Y Y 1 - 5 N 10 - - VCP Arg191Gln R191Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 10 - - VDR Arg30Stop R30X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 10 - - VDR Arg47Gln R47Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 1 - - VDR Arg73Gln R73Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 4 - - VDR Arg77Gln R77Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 0 - 4 N 2 - - VDR Arg271Leu R271L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 9 - - VDR Arg391Cys R391C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 10 - - VDR Gln149Stop Q149X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 8 - - VDR Glu329Lys E329K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 0 - 5 N 4 - - VDR Gly33Asp G33D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 1 - - VDR Gly46Asp G46D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 4 Y 5 N 7 - - VDR His305Gln H305Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - -1 - 5 N 10 - - VDR Ile314Ser I314S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.861 Y - 5 Y 5 N 10 - - VDR Tyr292Stop Y292X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - VHL Arg64Pro R64P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - VHL Arg161Stop R161X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 9 - - VHL Arg167Gln R167Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - VHL Arg167Gly R167G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 6 - - VHL Arg167Trp R167W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - VHL Arg200Trp R200W pathogenic Insufficiently evaluated pathogenic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - VHL Asp126Tyr D126Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 8 - - VHL Gly93Ser G93S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 2 - 6 N 4 - - VHL His191Asp H191D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y 3 - 6 N 7 - - VHL Leu63Pro L63P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - VHL Leu135Phe L135F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.835 Y Y 0 - 5 N - - VHL Leu163Pro L163P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 5 - - VHL Leu188Val L188V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.853 Y Y 0 - 6 N 10 - - VHL Pro81Ser P81S pathogenic High clinical importance, Uncertain pathogenic dominant Array 3 10560 0.00028409 0 0 0 3 3 2 Y ! Y 0 Y 2 Y 4 - 1 - Y Y - - 0.88 Y Y 3 - 6 N 10 2 0 One group reported a sporadic hemangioblastoma case with this variant, a tumor commonly found in von Hippel-Lindau (VHL) disease. However, the finding had no statistical significance and three other relatives with the variant were unaffected -- the variant might be coincidental, or may cause VHL disease with lowered penetrance. VHL disease is typically highly penetrant, dominantly inherited and causes multiple tumors. Also found in combination with another variant (L188V) in another family with VHL disease; both variants were inherited together, and functional studies implicate the other variant as more disruptive. VHL Pro192Ser P192S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 4 - - VHL Ser183Stop S183X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - VHL Trp88Ser W88S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 4 - - VHL Tyr98His Y98H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y -1 - 6 N 10 - - VHL Tyr112Asn Y112N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 10 - - VHL Tyr112His Y112H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y -1 - 6 N 10 - - VHL Val84Leu V84L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.958 Y Y 0 - 6 N 10 - - VHL Val130Leu V130L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.994 Y Y 0 - 6 N 9 - - VHL Val166Phe V166F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.981 Y Y 3 - 6 N 6 - - VIM Glu151Lys E151K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.894 - - 0 - 4 N - - VKORC1 Arg58Gly R58G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y 0.999 Y - 6 Y 5 N 10 - - VKORC1 Arg98Trp R98W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.904 Y - 7 Y 5 N 10 - - VKORC1 Asp36Tyr D36Y pathogenic Insufficiently evaluated pathogenic unknown Array rs61742245 9 10668 0.000843644 1 0 1 1 1 - - - - - - - - - - - - Y Y - - 0.961 Y - 7 Y 5 N 10 - - VKORC1 Leu128Arg L128R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.989 Y - 6 Y 5 N 10 - - VKORC1 Val29Leu V29L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.974 Y - 0 - 5 N 10 - - VKORC1 Val45Ala V45A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - Y 0.972 Y - 2 - 5 N 10 - - VLDLR Arg257Stop R257X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - VPS13A Arg208Stop R208X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 2 - - VPS13A Ile90Lys I90K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 - Y 6 Y 5 N 2 - - VPS33B Arg438Stop R438X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - VPS33B Arg532Stop R532X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - VPS33B Leu30Pro L30P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.998 - - 7 Y 4 N - - VRK1 Arg358Stop R358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - VSX1 Ala256Ser A256S pathogenic Insufficiently evaluated pathogenic unknown Array 7 9728 0.000719572 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.01 - - -1 - 2 N 3 - - VSX1 Arg166Trp R166W pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - - 7 Y 4 N 10 - - VSX1 Gly160Asp G160D pathogenic Insufficiently evaluated pathogenic unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.011 - - 4 Y 2 N 10 - - VSX1 Leu17Pro L17P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.117 - - 7 Y 2 N 7 - - VSX1 Leu159Met L159M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.006 - - -3 - 2 N 10 - - VWF Arg53Trp R53W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 5 - - VWF Arg91Gln R91Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 6 - - VWF Arg543Trp R543W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - VWF Arg545Cys R545C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.33 Y Y 8 Y 5 N 7 - - VWF Arg578Gln R578Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.95 Y Y 0 - 6 N 6 - - VWF Arg636His R636H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.806 Y Y 1 - 5 N - - VWF Arg834Trp R834W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 10 - - VWF Arg854Gln R854Q pathogenic Moderate clinical importance, Likely pathogenic recessive Array rs41276738 44 10758 0.00408998 2 0 2 1 1 2 Y - - 5 Y - - 3 - 3 Y Y Y - - 0.993 Y Y 0 - 6 N 10 1 1 Causes type 2N von Willebrand disease in a recessive manner. This defect in coagulation can manifest as excessive bleeding during surgery. VWF Arg1205His R1205H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 1 - 6 N 10 - - VWF Arg1308Cys R1308C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.864 Y Y 8 Y 6 N 10 - - VWF Arg1659Stop R1659X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - VWF Arg1852Stop R1852X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - VWF Arg2635Stop R2635X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - VWF Cys509Arg C509R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - VWF Cys1149Arg C1149R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 10 - - VWF Cys2010Arg C2010R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N - - VWF Gly550Arg G550R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 6 Y 6 N 6 - - VWF Gly561Ser G561S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - VWF Ile865Thr I865T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 4 - - VWF Phe751Cys F751C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 4 Y 5 N 2 - - VWF Ser850Pro S850P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 3 - 5 N 1 - - VWF Thr28Met T28M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 2 - 5 N 10 - - VWF Trp550Cys W550C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 3 - - VWF Tyr1584Cys Y1584C pathogenic Moderate clinical importance, Likely pathogenic dominant Array rs1800386 25 10758 0.00232385 1 0 1 2 2 2 Y - - 5 Y ! Y 2 Y 3 Y Y Y - - 1.0 Y Y 6 Y 6 N 10 1 1 This variant is associated with causing Type 1 von Willebrand disease in a dominant fashion. This hereditary defect in coagulation makes individuals more susceptible to bleeding. Not all carriers of the variant have the disease (incomplete penetrance); type O blood may also be a risk factor. A vWF antigen assay can confirm presence of the disease. Individuals are not usually treated with medication, but prophylactic measures are recommended before surgery and behavioral modification to avoid activities with a high risk of trauma (particularly head trauma) is recommended. VWF Val551Leu V551L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 2 - - VWF Val553Met V553M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 0 - 5 N 9 - - VWF Val844Asp V844D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 8 Y 5 N 2 - - WAS Ala56Val A56V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.7 Y Y 2 - 5 N 10 - - WAS Ala236Glu A236E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.251 Y Y 3 - 5 N 8 - - WAS Arg34Stop R34X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - WAS Arg86His R86H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - WAS Arg86Leu R86L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 10 - - WAS Ile481Asn I481N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 7 Y 5 N 8 - - WAS Leu270Pro L270P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.995 Y Y 7 Y 6 N 10 - - WAS Pro58Arg P58R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 5 Y 6 N 10 - - WAS Ser82Pro S82P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 5 Y - - - - - - - - - - Y Y - - 0.999 Y Y 3 - 6 N 10 - - Since motor vehicle industry continues to experience a big demand on mini truck accessories,Daihatsu hijet parts becomes more famous. It even incorporates a lot of tires and engines, along bigger wipers, a/c unit and music systems. http://minitruckgarage.com WAS Thr45Met T45M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 2 - 6 N 10 - - WFS1 Ala716Thr A716T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.026 Y Y 1 - 4 N 10 - - WFS1 Arg859Gln R859Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.977 Y Y 0 - 6 N 7 - - WFS1 Gln226Stop Q226X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 7 - - WFS1 Gln819Stop Q819X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - WFS1 Glu864Lys E864K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.952 Y Y 0 - 6 N 10 - - WFS1 Gly695Val G695V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y Y 8 Y 6 N 9 - - WFS1 Gly831Asp G831D pathogenic Insufficiently evaluated pathogenic unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.949 Y Y 4 Y 6 N 10 - - WFS1 Leu829Pro L829P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 7 Y 6 N 10 - - WFS1 Lys634Thr K634T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 Y Y 3 - 6 N 10 - - WFS1 Pro504Leu P504L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.899 Y Y 7 Y 6 N 8 - - WFS1 Pro724Leu P724L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 7 Y 6 N 10 - - WFS1 Thr699Met T699M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.99 Y Y 2 - 6 N 10 - - WFS1 Trp648Stop W648X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - WHRN Arg778Stop R778X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - WHRN Gln103Stop Q103X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - WISP3 Cys52Stop C52X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 7 - - WISP3 Cys78Arg C78R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 8 Y 4 N 1 - - WISP3 Cys145Tyr C145Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 6 Y 4 N 1 - - WISP3 Ser334Pro S334P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 3 - 4 N - - WISP3 Trp331Stop W331X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - WNK1 Arg290Stop R290X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - WNK1 Gln73Stop Q73X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - WNK1 Gln315Stop Q315X pathogenic Insufficiently evaluated pathogenic unknown Array 1 9890 0.000101112 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - WNK4 Arg1185Cys R1185C pathogenic High clinical importance, Uncertain pathogenic dominant Array 4 10648 0.000375657 0 0 0 1 1 2 Y - - 0 Y 1 Y 3 - 4 - Y Y - - - Y - 8 Y 4 N 10 2 0 Reported to cause pseudohypoaldosteronism type II in a dominant manner, causing hypertension, hyperkalemia, increased renal salt reabsorption, and impaired K+ and H+ excretion. One family is reported carrying this variant, but this appears to lack statistical significance. Only a handful of families have been reported with this genetic disease, and the variant is extremely rare. WNK4 Asp564Ala D564A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.948 Y - 5 Y 5 N 10 - - WNK4 Gln565Glu Q565E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.426 Y - -2 - 4 N 10 - - WNK4 Glu562Lys E562K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.426 Y - 0 - 4 N 10 - - WNT10A Arg128Gln R128Q pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.991 - - 0 - 4 N - - WNT10A Cys107Stop C107X pathogenic Insufficiently evaluated pathogenic unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - WNT10A Cys376Stop C376X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - WNT10A Glu233Stop E233X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - WNT10A Phe228Ile F228I pathogenic Moderate clinical importance, pathogenic unknown Array 202 10750 0.0187907 1 0 1 2 2 2 Y - - 5 Y 1 Y 3 - 1 - - Y - - 0.997 - - 2 - 4 N 1 2 Causes ectodermal dysplasia in a recessive manner (malformations of teeth and nails, abnormal/loss of sweating). Although reports have high statistical significance, allele frequency for this variant is high relative to the incidence of the disease. This suggests it may be milder than other pathogenic variants and cause disease with less than 100% penetrance and/or that the disease is more common than reported. Bohring et al. report heterozygotes for pathogenic variants in this gene often have milder skin, tooth, and nail abnormalities, with males having a higher rate of tooth abnormalities. WNT10A Trp9Stop W9X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - WNT10B Arg332Trp R332W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 1.0 - - 7 Y 4 N - - WNT3 Gln83Stop Q83X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - WNT4 Ala114Val A114V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.967 - Y 2 - 5 N 4 - - WNT4 Arg83Cys R83C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.998 - Y 8 Y 5 N 10 - - WNT4 Glu226Gly E226G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 6 Y 4 N 8 - - WNT4 Leu12Pro L12P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 7 Y 4 N 10 - - WNT7A Ala109Thr A109T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.988 Y - 1 - 5 N 3 - - WNT7A Arg292Cys R292C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 4 - - WRD36 Ala449Thr A449T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - WRD36 Arg529Gln R529Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - WRD36 Asn355Ser N355S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - WRD36 Asp658Gly D658G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 4 Y 3 N - - WT1 Arg362Stop R362X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - WT1 Arg366Cys R366C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 8 Y 6 N 7 - - WT1 Arg366His R366H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N 10 - - WT1 Arg390Stop R390X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 10 - - WT1 Arg394Pro R394P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 5 Y 6 N 1 - - WT1 Arg394Trp R394W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N 10 - - WT1 Asp396Asn D396N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.996 Y Y -1 - 6 N 10 - - WT1 Asp396Gly D396G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 4 Y 6 N 4 - - WT1 Cys330Tyr C330Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 6 Y 6 N 1 - - WT1 Cys360Gly C360G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 7 Y 6 N - - WT1 His373Gln H373Q pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 1 - - WT1 His377Tyr H377Y pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y -1 - 6 N 9 - - WT1 Phe383Leu F383L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y Y 0 - 6 N 5 - - WT1 Phe392Leu F392L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 0 - 6 N 10 - - WT1 Ser273Gly S273G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.157 Y Y 2 - 4 N 4 - - WT1 Tyr109Stop Y109X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - WTX Arg353Stop R353X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - WTX Arg358Stop R358X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - - 10 Y 4 N 1 - - WWOX Leu291Pro L291P pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.002 - - 7 Y 2 N - - XDH Arg149Cys R149C pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 8 Y 5 N 5 - - XDH Arg228Stop R228X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - XK Cys294Arg C294R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 - Y 8 Y 5 N 5 - - XK Gln299Stop Q299X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 1 - - XK Trp314Stop W314X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - - Y 10 Y 5 N 4 - - XPA Arg207Stop R207X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - XPA Arg228Stop R228X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 6 - - XPA Cys108Phe C108F pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 4 Y 6 N 4 - - XPA Tyr116Stop Y116X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 3 - - XPC Arg579Stop R579X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 2 - - XPC Pro218His P218H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 5 Y 5 N 3 - - XYLT1 Ala115Ser A115S pathogenic Insufficiently evaluated pathogenic unknown Array rs61758388 79 4760 0.0165966 1 0 1 0 0 - - - - - - - - - - - - - Y - - 0.036 - - -1 - 2 N - - YARS Glu196Lys E196K pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 0 - 5 N 10 - - YARS Gly41Arg G41R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 6 Y 5 N 10 - - ZAP70 Arg465His R465H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 1 - 6 N - - ZAP70 Ser518Arg S518R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y Y 3 - 6 N 3 - - ZBTB16 Met617Val M617V pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - 0.999 - - 0 - 4 N - - ZDHHC9 Arg148Trp R148W pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 7 Y 5 N 2 - - ZDHHC9 Pro150Ser P150S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.987 Y - 3 - 5 N 2 - - ZEB2 Arg549Stop R549X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 1 - - ZEB2 Arg695Stop R695X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N 5 - - ZEB2 Gln1119Arg Q1119R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.08 Y Y 0 - 4 N 1 - - ZEB2 Ser852Stop S852X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y Y 10 Y 6 N - - ZFP57 Arg228His R228H pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - ZFP57 Cys241Stop C241X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ZFP57 His257Asn H257N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ZFP57 His438Asp H438D pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 3 - 3 N - - ZFPM2 Arg112Stop R112X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ZFPM2 Glu30Gly E30G pathogenic Insufficiently evaluated pathogenic unknown Array 43 9622 0.00446892 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 6 Y 3 N - - ZFPM2 Met703Leu M703L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - -3 - 3 N - - ZFPM2 Thr843Ala T843A pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - ZFYVE26 Arg1438Stop R1438X pathogenic Insufficiently evaluated pathogenic unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N - - ZFYVE26 Gln493Stop Q493X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 2 - - ZFYVE27 Gly191Val G191V pathogenic Insufficiently evaluated pathogenic unknown Array rs35077384 326 10758 0.030303 1 0 1 0 0 - - - - - - - - - - - - Y Y - - 0.688 Y - 8 Y 4 N 5 - - ZIC3 Cys253Ser C253S pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.999 Y - 3 - 5 N 9 - - ZIC3 Cys270Stop C270X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 1 - - ZIC3 Gln249Stop Q249X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 3 - - ZIC3 Lys405Glu K405E pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.997 Y - 0 - 5 N 6 - - ZIC3 Pro217Ala P217A pathogenic Insufficiently evaluated pathogenic unknown Array 66 8632 0.00764597 1 0 2 0 0 - - - - - - - - - - - - Y Y - - 0.004 Y - 2 - 3 N 8 - - ZIC3 Thr325Met T325M pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 2 - 4 N 2 - - ZIC3 Trp255Gly W255G pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 9 - - ZMPSTE24 Gln41Stop Q41X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 10 Y 5 N 6 - - ZMPSTE24 Pro248Leu P248L pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 1.0 Y - 7 Y 5 N 6 - - ZMPSTE24 Trp340Arg W340R pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y Y - - 0.955 Y - 7 Y 5 N 10 - - ZNF365 Ala62Thr A62T pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 1 - 3 N - - ZNF41 Pro111Leu P111L pathogenic Insufficiently evaluated pathogenic unknown Array 6 8759 0.000685009 0 0 0 0 0 - - - - - - - - - - - - Y Y - - - Y - 7 Y 4 N 6 - - ZNF674 Glu118Stop E118X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ZNF711 Arg525Stop R525X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - ZNF81 Ser179Asn S179N pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 0 - 3 N - - ZPI Trp303Stop W303X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - Y - - - - - 10 Y 4 N - - PRNP Met129Met M129M not reviewed Insufficiently evaluated not reviewed recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y Y -12 - 4 - 10 - - Genetic risk factor for variant Creutzfeld-Jakob disease. MYOT Lys74Lys K74K benign Low clinical importance, Uncertain benign other Array 0 0 0 3 3 1 Y - - 1 Y - - - - - - Y - - - - Y Y -10 - Myofibrillar Myopathy 2 26 12 848 5.436 3 N 0 0 The A allele is associated with myotilinopathy. It was found in two individuals, one of whom involved weakness of the pectoralis muscles. NAGLU Arg737Arg R737R pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y - -10 - 2 N - - This variant was found in an individual with Sanfilippo syndrome type B together with a variant known causative for Sanfilippo. SLC12A3 Ala264Ala A264A pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y - -8 - 2 N - - This variant was seen as a compound heterozygote with P643L in a patient with Gitelman's syndrome. MOCOS Val358Val V358V pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - -8 - 1 N - - This variant was seen as a compound heterozygote together with R419X in a 45yo Japanese male with Classical Xanthinuria type II. The variant was not seen in four Japanese controls. BCKDHB Gly278Ser G278S pathogenic Insufficiently evaluated pathogenic recessive Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - 5 Y Y - - - 0.993 Y Y 2 - 5 - 6 - - Maple Syrup Urine Disease BCKDHB Glu372Stop E372X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 5 - - Maple Syrup Urine Disease GLB1 Cys521Cys C521C pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 2 2 - - - - - - - - - - - - Y - - - - Y - -14 - 2 N - - Expression studies show that the variant reduces activity of b-galactosidase to 25% of wild type. There is disagreement in the literature whether this variant causes GM1-gangliosidosis. SLC26A2 Ile574Ile I574I not reviewed Insufficiently evaluated not reviewed recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y Y -8 - 3 N - - This variant was seen in two presumed compound heterozygotes (one with the second mutation not found, and the other with delV340 + R279W) with autosomal recessive diastrophic dysplasia. CLCNKB Arg27Arg R27R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 2 2 - - - - - - - - - - - - Y - - - - Y - -10 - 2 N - - This variant is debated in the literature as to whether it is a benign polymorphism or a Bartter syndrome 3 modifier. NTRK1 Gln9Stop Q9X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 1 1 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 3 - - This variant is found in cis with H598Y and G607V and they are found in a homozygous fashion in one Italian with congenital pain insensitivity. None of the mutations are found in 100 controls and authors presume that Q9X is the causative mutation. PRNP Gly127Val G127V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 8 Y 5 - 10 - - Protective from kuru. BTNL2 Gln350His Q350H pathogenic Insufficiently evaluated pathogenic undefined Array 0 0 0 1 1 - - - - 2 Y - - - - - - - - Y - 0.998 - - -1 - Ulcerative colitis 713 39 1848 183 1.810 4 N - - GWAS association with ulcerative colitis. CHRNA3 Tyr215Stop Y215X not reviewed Insufficiently evaluated not reviewed other Array 0 0 0 1 0 - - - - 1 Y - - - - - - - - Y - - - - 10 Y Lung adenocarcinoma 5501 7799 6883 12783 1.310 3 N - - GWAS association with Lung adenocarcinoma. FGB Ser189Arg S189R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - Y - 0.338 Y - 3 - 4 N 2 - - LPL Ser474Stop S474X protective Low clinical importance, Uncertain protective unknown Array rs328 909 10758 0.0844953 15 0 16 6 6 2 Y 1 Y 1 Y - - 1 Y 0 Y Y - Y Y - Y Y 10 Y 5 N 6 0 0 This variant actually increases LPL enzyme activity despite creating a termination codon (see Rip J et al). It appears to be a protective variant, associated with lower triglyceride levels--although the effect is quite weak and explains only 0.5-1% of triglyceride variation. NSF Lys702Asn K702N protective Low clinical importance, Uncertain protective other Array 0 0 0 1 1 0 - 0 - 1 Y 0 - - - 0 - - - Y - - - - 1 - Parkinson's disease 699 4375 1454 7097 0.780 2 N 0 0 This variant is protective against Parkinson's disease. AGER Gly68Ser G68S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - Y - - - - 2 - 3 N 10 - - HCP5 Val112Ala V112A pathogenic Insufficiently evaluated pathogenic undefined Array 0 0 0 1 1 - - - - 4 Y - - - - - - - - Y - - - - 2 - Psoriasis 155 1216 52 1684 4.128 3 N - - GWAS association with psoriasis with an odds ratio of 4.1. HCP5 Val112Gly V112G pathogenic Insufficiently evaluated pathogenic undefined Array rs2395029 2 128 0.015625 1 0 1 1 1 - - - - 4 Y - - - - - - - - Y - - - - 8 Y AIDS progression 87 814 43 1395 3.467 3 N - - GWAS association with AIDS progression. HNF4A Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - Y - - Y - 3 - 3 N - - LDLR Cys27Trp C27W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - Y - 0.998 Y - 7 Y 5 N 6 - - LPL Ser474Leu S474L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.243 Y Y 6 Y 3 N - - This variant is reported incorrectly in the GWAS publication below. The correct variant is S474X. NOD2 Ala1006Pro A1006P pathogenic Insufficiently evaluated pathogenic other Array 0 0 0 1 0 1 Y - - 4 - - - - - 4 Y Y - Y - 0.177 Y - 2 - Crohn's disease 419 5136 133 6505 3.990 3 N - - GWAS associating with Crohn's disease TNFRSF1A Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed other Array 161 10758 0.0149656 0 0 0 1 0 - - - - 2 - - - - - - - Y - Y - 0.148 Y - 0 - Multiple sclerosis 121 4718 149 9187 1.581 3 N 9 - - GWAS with association with multiple sclerosis. MYBPC3 Glu334Lys E334K pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 3 3 2 Y 1 Y ! Y 0 Y 4 Y 4 Y Y - - - - Y Y 0 - Familial Hypertrophic Cardiomyopathy 5 269 0 300 INF 4 - 1 2 0 This variant has been seen in hypertrophic cardiomyopathy patients -- heterozygously in four unrelated Japanese and compound heterozygously (with R470W) in one Italian patient. The variant was not seen in 300 controls (p = 0.024) and was believed to act in a dominant fashion. The variant is also reported as pathogenic by one laboratory in ClinVar, and another lab labels it as "uncertain significance": http://www.ncbi.nlm.nih.gov/clinvar/RCV000158325/ However, according to ExAC data, 1 in 110 individuals with East Asian ancestry carries this variant: http://exac.broadinstitute.org/variant/11-47367848-C-T This is far higher than the rate of the disease, indicating observations of the variant were probably coincidental and contradicting the proposed effect. HNF1A Ser574Ser S574S not reviewed Insufficiently evaluated not reviewed other Array 0 0 0 3 3 1 - - - - - - - - - - - Y - - - - Y - -9 - Maturity-Onset Diabetes of the Young Type III 2 57 0 66 INF 2 N - - ABCA12 Glu550Gly E550G not reviewed Insufficiently evaluated not reviewed unknown Array rs16853149 493 10758 0.0458264 4 0 5 0 0 3 Y - - - - - - - - - - Y - - - 0.486 Y Y 6 Y 4 - 1 - - ABCA12 Glu232Gly E232G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ABCA12 Arg287Gly R287G benign Low clinical importance, Uncertain benign undefined Array rs11891778 475 10758 0.0441532 3 0 3 0 0 1 Y 0 Y - - 0 Y - - - - Y - - - 0.086 Y Y 6 Y 2 N 0 0 ABCA12 Gln274Arg Q274R not reviewed Insufficiently evaluated not reviewed unknown Array rs11890468 471 10758 0.0437814 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 1 - - ABCB4 Arg788Gln R788Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8187801 285 10758 0.0264919 4 0 4 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 4 - 2 - - ABCB4 Glu528Asp E528D not reviewed Insufficiently evaluated not reviewed unknown Array rs8187797 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 2 - 8 - - ABCC1 Arg723Gln R723Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148356 103 10232 0.0100665 3 0 3 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - ABHD12 Ala349Thr A349T not reviewed Insufficiently evaluated not reviewed unknown Array rs746748 474 10758 0.0440602 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.453 - - 1 - 2 - 4 - - ABL2 Lys930Arg K930R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 3 - 5 - - ABL2 Lys915Arg K915R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 5 - - ABL2 Lys894Arg K894R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 5 - - ABL2 Lys812Arg K812R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 5 - - ABO Thr106Met T106M not reviewed Insufficiently evaluated not reviewed unknown Array rs8176721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACOT9 Glu303Gln E303Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56378612 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ACOT9 Glu312Gln E312Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56378612 227 8761 0.0259103 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACRV1 Gly56Arg G56R not reviewed Insufficiently evaluated not reviewed unknown Array rs34788353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACRV1 Gly71Arg G71R not reviewed Insufficiently evaluated not reviewed unknown Array rs34788353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACRV1 Gly126Arg G126R not reviewed Insufficiently evaluated not reviewed unknown Array rs34788353 882 10758 0.0819855 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - ACVR1 Ala15Gly A15G not reviewed Insufficiently evaluated not reviewed unknown Array rs13406336 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - 1 - 2 - 1 - - ADAM2 Gly10Trp G10W not reviewed Insufficiently evaluated not reviewed unknown Array rs34800519 266 10758 0.0247258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 7 Y 1 N - - ADAM28 Arg148Leu R148L not reviewed Insufficiently evaluated not reviewed unknown Array rs35186768 139 10758 0.0129206 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM28 Asn493Ser N493S not reviewed Insufficiently evaluated not reviewed unknown Array rs7001647 160 10758 0.0148727 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM28 Ala534Val A534V not reviewed Insufficiently evaluated not reviewed unknown Array rs6982284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM28 Lys696Gln K696Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34932246 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAMTS13 Gln425His Q425H not reviewed Insufficiently evaluated not reviewed unknown Array rs36220239 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ADAMTS13 Gln456His Q456H not reviewed Insufficiently evaluated not reviewed unknown Array rs36220239 182 10656 0.0170796 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 2 - 3 - - ADAMTS13 Glu709Lys E709K not reviewed Insufficiently evaluated not reviewed unknown Array rs36221451 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ADAMTS13 Glu740Lys E740K not reviewed Insufficiently evaluated not reviewed unknown Array rs36221451 131 10758 0.012177 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 2 - 1 - - ADAMTS2 Arg241His R241H not reviewed Insufficiently evaluated not reviewed unknown Array rs11750821 757 10756 0.0703793 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAMTSL4 Leu769Val L769V not reviewed Insufficiently evaluated not reviewed unknown Array rs56228576 206 10758 0.0191485 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.801 - - 0 - 1 N - - ADAT1 Ile254Thr I254T not reviewed Insufficiently evaluated not reviewed unknown Array rs62619985 737 10758 0.0685072 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADCY6 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array rs55770045 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.422 - - 8 Y 1 N - - AHNAK2 Ser3273Gly S3273G not reviewed Insufficiently evaluated not reviewed unknown Array rs28737397 404 8852 0.0456394 22 0 27 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - AHNAK2 Pro1562Leu P1562L not reviewed Insufficiently evaluated not reviewed unknown Array rs2248966 3980 9594 0.414843 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.058 - - 7 Y 0 N - - AHR Val570Ile V570I not reviewed Insufficiently evaluated not reviewed unknown Array rs4986826 255 10758 0.0237033 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 1 - 10 - - ALDH4A1 Thr473Ala T473A not reviewed Insufficiently evaluated not reviewed unknown Array rs6695033 734 10758 0.0682283 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.767 Y - 1 - 1 N - - ALDH4A1 Thr413Ala T413A not reviewed Insufficiently evaluated not reviewed unknown Array rs6695033 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ALKBH7 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7540 709 10758 0.0659044 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - ANGEL1 Val383Leu V383L not reviewed Insufficiently evaluated not reviewed unknown Array rs45499197 449 10758 0.0417364 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - ANKRD12 Thr531Ser T531S not reviewed Insufficiently evaluated not reviewed unknown Array rs7243088 150 10746 0.0139587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD12 Thr508Ser T508S not reviewed Insufficiently evaluated not reviewed unknown Array rs7243088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A1 Ser192Thr S192T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A3 Ser192Thr S192T not reviewed Insufficiently evaluated not reviewed unknown Array 160 1138 0.140598 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKRD20A4 Val483Leu V483L not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - ANKRD36B Lys871Glu K871E not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD36B His754Arg H754R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.138 - - 1 - 0 N - - ANKRD36B Asp288Asn D288N not reviewed Insufficiently evaluated not reviewed unknown Array rs71329613 6 54 0.111111 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.049 - - -1 - 0 N - - ANO1 Gly983Arg G983R not reviewed Insufficiently evaluated not reviewed unknown Array rs3740722 882 9748 0.0904801 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 2 - - ANXA8L2 Ala134Val A134V not reviewed Insufficiently evaluated not reviewed unknown Array 1327 9328 0.14226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - AP3B2 Gln389Arg Q389R not reviewed Insufficiently evaluated not reviewed unknown Array rs63525062 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARFGAP3 Tyr334Cys Y334C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730560 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARFGAP3 Tyr378Cys Y378C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730560 112 10758 0.0104109 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.636 - - 6 Y 1 N - - ARL17 Ala64Gly A64G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARMC9 Ile4Val I4V not reviewed Insufficiently evaluated not reviewed unknown Array rs61753914 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARMCX5 Thr156Ala T156A not reviewed Insufficiently evaluated not reviewed unknown Array rs35450554 125 8761 0.0142678 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB18 His407Asn H407N not reviewed Insufficiently evaluated not reviewed unknown Array rs10177957 13 128 0.101562 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - ASB4 Val17Leu V17L not reviewed Insufficiently evaluated not reviewed unknown Array rs35047380 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ATP2B2 Val631Met V631M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736451 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5SL Arg9Cys R9C not reviewed Insufficiently evaluated not reviewed unknown Array rs2231938 84 10756 0.00780959 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - ATXN1 Pro753Ser P753S not reviewed Insufficiently evaluated not reviewed unknown Array rs16885 1576 10758 0.146496 14 0 15 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - BAT4 Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array rs35265780 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BBS10 Pro539Leu P539L not reviewed Insufficiently evaluated not reviewed unknown Array rs35676114 583 10758 0.0541922 6 0 6 0 0 2 Y - - - - - - - - - - Y - - - 0.19 Y Y 7 Y 2 N - - BCORL1 Gly209Ser G209S not reviewed Insufficiently evaluated not reviewed unknown Array rs5932715 610 8761 0.0696268 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - BDKRB1 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8004609 273 10758 0.0253765 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BEST2 Val158Met V158M not reviewed Insufficiently evaluated not reviewed unknown Array rs34896167 146 10566 0.0138179 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - BOD1L Arg2524His R2524H not reviewed Insufficiently evaluated not reviewed unknown Array rs61995952 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BTNL8 Thr326Lys T326K not reviewed Insufficiently evaluated not reviewed unknown Array rs7703365 1752 10022 0.174815 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - BTNL8 Thr201Lys T201K not reviewed Insufficiently evaluated not reviewed unknown Array rs7703365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTNL8 Thr210Lys T210K not reviewed Insufficiently evaluated not reviewed unknown Array rs7703365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTNL8 Thr142Lys T142K not reviewed Insufficiently evaluated not reviewed unknown Array rs7703365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF12 Glu396Gly E396G not reviewed Insufficiently evaluated not reviewed unknown Array rs35128733 374 10758 0.0347648 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF12 Pro401Ala P401A not reviewed Insufficiently evaluated not reviewed unknown Array rs34104025 741 10758 0.068879 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF12 Thr556Pro T556P not reviewed Insufficiently evaluated not reviewed unknown Array rs7894200 662 10758 0.0615356 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C10ORF82 Thr74Met T74M not reviewed Insufficiently evaluated not reviewed unknown Array rs62641727 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF16 Pro144Leu P144L not reviewed Insufficiently evaluated not reviewed unknown Array rs2568076 189 10758 0.0175683 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C15ORF55 Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737334 262 10758 0.024354 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF25 Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736697 91 9796 0.0092895 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF156 Lys360Met K360M not reviewed Insufficiently evaluated not reviewed unknown Array rs13375701 193 10750 0.0179535 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - C1ORF182 Leu35Arg L35R not reviewed Insufficiently evaluated not reviewed unknown Array rs41265041 161 10758 0.0149656 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF88 Lys97Asn K97N not reviewed Insufficiently evaluated not reviewed unknown Array rs15396 549 10758 0.0510318 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF96 Ala166Thr A166T not reviewed Insufficiently evaluated not reviewed unknown Array rs35006651 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF132 His211Arg H211R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621241 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF29 His408Gln H408Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35028190 482 10758 0.0448039 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF3 Glu724Asp E724D not reviewed Insufficiently evaluated not reviewed unknown Array rs17690300 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C3ORF16 Ile306Met I306M not reviewed Insufficiently evaluated not reviewed unknown Array rs3821406 44 3234 0.0136054 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF20 Gly42Asp G42D not reviewed Insufficiently evaluated not reviewed unknown Array rs17040154 481 10758 0.0447109 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF10 Pro274Ser P274S not reviewed Insufficiently evaluated not reviewed unknown Array rs34498363 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF26 Pro30Ser P30S not reviewed Insufficiently evaluated not reviewed unknown Array rs17201151 109 7508 0.0145178 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C6ORF72 Lys247Glu K247E not reviewed Insufficiently evaluated not reviewed unknown Array rs1137086 346 10758 0.0321621 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF97 Asn479Lys N479K not reviewed Insufficiently evaluated not reviewed unknown Array rs35159094 253 9772 0.0258903 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF45 Leu322Val L322V not reviewed Insufficiently evaluated not reviewed unknown Array rs17332410 577 10758 0.0536345 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF79 Pro93Thr P93T not reviewed Insufficiently evaluated not reviewed unknown Array rs505480 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF79 Pro219Thr P219T not reviewed Insufficiently evaluated not reviewed unknown Array rs505480 616 9690 0.0635707 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF144B Thr238Met T238M not reviewed Insufficiently evaluated not reviewed unknown Array rs1810820 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF79 Thr1197Met T1197M not reviewed Insufficiently evaluated not reviewed unknown Array rs35095477 150 10678 0.0140476 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMKK2 Ser10Asn S10N not reviewed Insufficiently evaluated not reviewed unknown Array rs28360477 357 10590 0.033711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 6 - - CC2D2B Tyr237His Y237H not reviewed Insufficiently evaluated not reviewed unknown Array rs9943393 94 9438 0.00995974 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 1 N - - CCDC144NL Ser217Tyr S217Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62066974 1 2 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC69 Leu108Pro L108P not reviewed Insufficiently evaluated not reviewed unknown Array rs61745454 454 10758 0.0422012 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 7 Y 0 N - - CCPG1 Tyr418His Y418H not reviewed Insufficiently evaluated not reviewed unknown Array rs34958422 390 9720 0.0401235 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCRL2 Tyr16Cys Y16C not reviewed Insufficiently evaluated not reviewed unknown Array rs11574443 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 6 - - CCRL2 Tyr4Cys Y4C not reviewed Insufficiently evaluated not reviewed unknown Array rs11574443 152 10306 0.0147487 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 3 - 6 - - CD93 Val428Leu V428L not reviewed Insufficiently evaluated not reviewed unknown Array rs41347947 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 1 - - CD96 Gln193Pro Q193P not reviewed Insufficiently evaluated not reviewed unknown Array rs61733706 54 10758 0.00501952 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD96 Gln209Pro Q209P not reviewed Insufficiently evaluated not reviewed unknown Array rs61733706 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 4 Y 2 N - - CEACAM5 Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array rs34155934 2003 10758 0.186187 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - CEACAM5 Ile113Thr I113T not reviewed Insufficiently evaluated not reviewed unknown Array rs35091611 1800 10758 0.167317 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CECR2 Gly719Ala G719A not reviewed Insufficiently evaluated not reviewed unknown Array rs41277562 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELA1 Gln243Arg Q243R not reviewed Insufficiently evaluated not reviewed unknown Array rs17860364 1149 10758 0.106804 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CELA1 Gln10His Q10H not reviewed Insufficiently evaluated not reviewed unknown Array rs17860287 902 10722 0.0841261 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 - 2 - - CFH Ile1059Thr I1059T not reviewed Insufficiently evaluated not reviewed unknown Array rs35343172 234 10758 0.0217513 2 0 2 0 0 3 Y - - - - - - - - - - Y - - - 0.922 Y Y 3 - 5 - 2 - - CFH Gln1143Glu Q1143E not reviewed Insufficiently evaluated not reviewed unknown Array rs34247141 368 10712 0.034354 6 0 6 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - CHD4 Ser1648Leu S1648L not reviewed Insufficiently evaluated not reviewed unknown Array rs35512811 284 10758 0.026399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 6 Y 1 - 4 - - CHD6 Asn1899Ile N1899I not reviewed Insufficiently evaluated not reviewed unknown Array rs55864139 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLNK Pro31Leu P31L not reviewed Insufficiently evaluated not reviewed unknown Array rs61759824 478 10132 0.0471773 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CLRN3 Phe75Ile F75I not reviewed Insufficiently evaluated not reviewed unknown Array rs35070529 702 10756 0.0652659 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 1 N - - CLSTN1 Gly166Glu G166E not reviewed Insufficiently evaluated not reviewed unknown Array rs35331030 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLSTN1 Gly176Glu G176E not reviewed Insufficiently evaluated not reviewed unknown Array rs35331030 140 10758 0.0130136 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CNGA4 Thr157Ala T157A not reviewed Insufficiently evaluated not reviewed unknown Array rs60883768 254 10758 0.0236103 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.219 - - 1 - 1 N - - CNN3 Asn47Ser N47S not reviewed Insufficiently evaluated not reviewed unknown Array rs35493443 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - CNTNAP3 Gly714Val G714V not reviewed Insufficiently evaluated not reviewed unknown Array 6968 10658 0.653781 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CNTNAP4 Arg430Pro R430P not reviewed Insufficiently evaluated not reviewed unknown Array rs8055272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL18A1 Val144Ile V144I not reviewed Insufficiently evaluated not reviewed unknown Array rs61759533 178 10016 0.0177716 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - COL4A6 Leu1361Pro L1361P not reviewed Insufficiently evaluated not reviewed unknown Array rs35363062 333 8761 0.0380094 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL4A6 Leu1362Pro L1362P not reviewed Insufficiently evaluated not reviewed unknown Array rs35363062 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL4A6 Pro1125Ser P1125S not reviewed Insufficiently evaluated not reviewed unknown Array rs35179844 375 8761 0.0428033 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL4A6 Pro1126Ser P1126S not reviewed Insufficiently evaluated not reviewed unknown Array rs35179844 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL6A3 Thr538Met T538M not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Thr337Met T337M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Thr332Met T332M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 4 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CR1 Lys2303Arg K2303R not reviewed Insufficiently evaluated not reviewed unknown Array rs41274770 142 9928 0.014303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CR1 Lys1853Arg K1853R not reviewed Insufficiently evaluated not reviewed unknown Array rs41274770 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CR1L Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41314532 150 9988 0.015018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 2 N - - CRADD Ile35Val I35V not reviewed Insufficiently evaluated not reviewed unknown Array rs52807869 205 10758 0.0190556 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - CRAMP1L Ile1183Thr I1183T not reviewed Insufficiently evaluated not reviewed unknown Array rs59339153 315 10066 0.0312935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CROT Val502Leu V502L not reviewed Insufficiently evaluated not reviewed unknown Array rs7785206 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CROT Val474Leu V474L not reviewed Insufficiently evaluated not reviewed unknown Array rs7785206 873 10758 0.0811489 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - CTAGE6 Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CUL9 Gly282Glu G282E not reviewed Insufficiently evaluated not reviewed unknown Array rs61743561 188 10758 0.0174754 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - CUL9 Arg2389Gln R2389Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743530 40 10750 0.00372093 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - CYP2B6 Lys262Arg K262R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28399497 459 10596 0.0433182 26 0 32 1 1 - - - - - - - - - - - - - - - Y - - - -3 - 2 N - - CYP2D6 Val338Met V338M pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs59421388 339 10756 0.0315173 4 0 4 0 0 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - CYP2D6 Val287Met V287M not reviewed Insufficiently evaluated not reviewed unknown Array rs59421388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP8B1 Leu357Phe L357F not reviewed Insufficiently evaluated not reviewed unknown Array rs35637877 242 10758 0.0224949 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - CYTH4 Met74Val M74V not reviewed Insufficiently evaluated not reviewed unknown Array rs16998061 279 10756 0.025939 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - DAGLB Leu456Val L456V not reviewed Insufficiently evaluated not reviewed unknown Array rs1055430 465 10758 0.0432236 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - DAGLB Leu327Val L327V not reviewed Insufficiently evaluated not reviewed unknown Array rs1055430 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS1 Val2331Ile V2331I not reviewed Insufficiently evaluated not reviewed unknown Array rs7924553 422 10758 0.0392266 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DDX12 Gly354Arg G354R not reviewed Insufficiently evaluated not reviewed unknown Array 756 1052 0.718631 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DEFB107A Val9Phe V9F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DEFB107B Val9Phe V9F not reviewed Insufficiently evaluated not reviewed unknown Array 6835 8156 0.838033 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DENND4A Ser1571Pro S1571P not reviewed Insufficiently evaluated not reviewed unknown Array rs8036725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DENND4A Ser1528Pro S1528P not reviewed Insufficiently evaluated not reviewed unknown Array rs8036725 507 9746 0.0520213 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 0 N - - DHRS7 Arg218Gln R218Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34583017 87 10754 0.00809001 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 3 - - DHX57 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array rs61757604 93 10758 0.00864473 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - DLC1 Arg27Cys R27C not reviewed Insufficiently evaluated not reviewed unknown Array rs34575560 272 10758 0.0252835 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - DLEC1 Ser192Phe S192F not reviewed Insufficiently evaluated not reviewed unknown Array rs34012183 118 9850 0.0119797 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DLEC1 Asn1150Asp N1150D not reviewed Insufficiently evaluated not reviewed unknown Array rs9840172 62 10076 0.00615324 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DLEC1 Leu1227Pro L1227P not reviewed Insufficiently evaluated not reviewed unknown Array rs9810085 59 10580 0.00557656 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DLX5 Ser234Arg S234R not reviewed Insufficiently evaluated not reviewed unknown Array rs35273378 96 10756 0.00892525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - DNAH10 Arg4352Cys R4352C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746561 116 10032 0.011563 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH14 Gln3556Arg Q3556R not reviewed Insufficiently evaluated not reviewed unknown Array rs17522489 446 3234 0.13791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH5 Val1101Met V1101M not reviewed Insufficiently evaluated not reviewed unknown Array rs61747516 153 10758 0.014222 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.006 Y Y 0 - 2 N - - DNAI1 Gln326His Q326H not reviewed Insufficiently evaluated not reviewed unknown Array rs16931555 121 10758 0.0112474 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - 0.669 Y Y -1 - 3 N - - DNMBP Arg1101Gln R1101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35881299 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - DNMBP Met831Thr M831T not reviewed Insufficiently evaluated not reviewed unknown Array rs17854134 251 10758 0.0233315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 3 - 1 - - DNTTIP2 Ala430Val A430V not reviewed Insufficiently evaluated not reviewed unknown Array rs35650636 422 9998 0.0422084 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - DOC2A Pro376Leu P376L not reviewed Insufficiently evaluated not reviewed unknown Array rs34246709 56 10720 0.00522388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - DOK2 Leu138Ser L138S not reviewed Insufficiently evaluated not reviewed unknown Array rs56094005 293 10680 0.0274345 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 6 Y 1 N - - DPH1 Lys226Arg K226R not reviewed Insufficiently evaluated not reviewed unknown Array rs1131600 1179 9828 0.119963 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - DZIP1 Cys585Trp C585W not reviewed Insufficiently evaluated not reviewed unknown Array rs34181737 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DZIP1 Cys604Trp C604W not reviewed Insufficiently evaluated not reviewed unknown Array rs34181737 54 10758 0.00501952 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - EFCAB4B Arg466Gly R466G not reviewed Insufficiently evaluated not reviewed unknown Array rs58583720 19 3234 0.00587508 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFHC2 Ser430Tyr S430Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2208592 580 7622 0.0760955 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ELSPBP1 Pro185Leu P185L not reviewed Insufficiently evaluated not reviewed unknown Array rs35700000 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - EMR1 Val724Leu V724L not reviewed Insufficiently evaluated not reviewed unknown Array rs10406580 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENPP2 Ser778Leu S778L not reviewed Insufficiently evaluated not reviewed unknown Array rs16892767 276 10758 0.0256553 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ENPP2 Ser751Leu S751L not reviewed Insufficiently evaluated not reviewed unknown Array rs16892767 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ENPP2 Ser726Leu S726L not reviewed Insufficiently evaluated not reviewed unknown Array rs16892767 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.288 - - 6 Y 1 N - - EPHA8 Gly45Ser G45S not reviewed Insufficiently evaluated not reviewed unknown Array rs45498698 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - EPPK1 Gly384Glu G384E not reviewed Insufficiently evaluated not reviewed unknown Array rs58368323 302 9628 0.0313668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERCC6 Val1308Leu V1308L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 1 1 0 0 5 Y - - - - - - - - - - Y - - - 0.006 Y Y 0 - 2 N - - FAM131C Lys48Glu K48E not reviewed Insufficiently evaluated not reviewed unknown Array rs2863458 3029 9690 0.31259 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 0 N - - FAM154A Asn464Lys N464K not reviewed Insufficiently evaluated not reviewed unknown Array rs35562117 252 10758 0.0234244 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - FAM22D Gly473Ser G473S not reviewed Insufficiently evaluated not reviewed unknown Array rs71252699 2393 6646 0.360066 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.474 - - 2 - 0 N - - FAM22F Pro387Ser P387S not reviewed Insufficiently evaluated not reviewed unknown Array rs10993163 645 9908 0.0650989 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - FAM38A Arg1866Stop R1866X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - FAM38A Pro1483Gln P1483Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - FAM38A Ala1276Pro A1276P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Leu612Phe L612F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Ala356Pro A356P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM75A6 Pro1102Leu P1102L not reviewed Insufficiently evaluated not reviewed unknown Array 683 1916 0.356472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM75A6 Arg623Gly R623G not reviewed Insufficiently evaluated not reviewed unknown Array 585 744 0.78629 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM86B1 Asp43Tyr D43Y not reviewed Insufficiently evaluated not reviewed unknown Array 129 3448 0.037413 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - FAM90A1 Ala234Glu A234E not reviewed Insufficiently evaluated not reviewed unknown Array rs9668582 1087 10304 0.105493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FANCB Gly335Glu G335E not reviewed Insufficiently evaluated not reviewed unknown Array rs41309679 514 8758 0.0586892 3 0 5 0 0 5 Y - - - - - - - - - - Y - - - 0.936 Y Y 6 Y 3 N - - FARP2 Arg729Trp R729W not reviewed Insufficiently evaluated not reviewed unknown Array rs61740951 208 10758 0.0193344 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FCGBP Val2814Ala V2814A not reviewed Insufficiently evaluated not reviewed unknown Array 1878 9490 0.197893 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FCRL3 Asn721Ser N721S not reviewed Insufficiently evaluated not reviewed unknown Array rs2282284 556 10758 0.0516825 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - FES Pro386Leu P386L not reviewed Insufficiently evaluated not reviewed unknown Array rs34086251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - FES Pro444Leu P444L not reviewed Insufficiently evaluated not reviewed unknown Array rs34086251 25 10726 0.00233078 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 1 - 1 - - FGD5 Ala515Thr A515T not reviewed Insufficiently evaluated not reviewed unknown Array rs61751584 431 9866 0.0436854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FHOD3 Gln599Arg Q599R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735994 243 10756 0.022592 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKTN Asn446Asp N446D benign Low clinical importance, Uncertain benign unknown Array rs41313301 97 10758 0.00901654 3 0 3 0 0 3 Y - - 2 Y - - - - - - Y - - - 0.999 Y Y -1 - 4 N 0 0 Probably benign. FLG Ser2045Thr S2045T not reviewed Insufficiently evaluated not reviewed unknown Array 2160 10752 0.200893 1 0 1 0 0 - Y - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - FLRT3 Ala377Thr A377T not reviewed Insufficiently evaluated not reviewed unknown Array rs8120693 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - FLT4 Arg1324Leu R1324L not reviewed Insufficiently evaluated not reviewed unknown Array rs307821 970 10754 0.090199 6 0 6 0 0 5 Y - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - FMO2 Phe69Tyr F69Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28745274 175 10758 0.016267 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 7 - - FOLR3 Leu195Phe L195F not reviewed Insufficiently evaluated not reviewed unknown Array rs1802608 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRAS1 Tyr3384Asp Y3384D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - FRAS1 Glu3560Asp E3560D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FREM1 Met702Val M702V not reviewed Insufficiently evaluated not reviewed unknown Array rs7864984 310 9730 0.0318602 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.913 - - 0 - 2 N - - FREM2 Gln396His Q396H not reviewed Insufficiently evaluated not reviewed unknown Array rs61997174 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.97 Y - -1 - 3 N - - FYCO1 Asn1001Lys N1001K not reviewed Insufficiently evaluated not reviewed unknown Array rs13079478 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - FYCO1 Asn1001Asp N1001D not reviewed Insufficiently evaluated not reviewed unknown Array rs13059238 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FYCO1 Arg282His R282H not reviewed Insufficiently evaluated not reviewed unknown Array rs9875356 233 10758 0.0216583 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GAB4 Leu273Pro L273P not reviewed Insufficiently evaluated not reviewed unknown Array rs11703655 234 10730 0.021808 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.693 - - 7 Y 1 N - - GCAT Arg387Trp R387W not reviewed Insufficiently evaluated not reviewed unknown Array rs17856459 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 2 - - GFRA2 Glu15Asp E15D not reviewed Insufficiently evaluated not reviewed unknown Array rs61738716 7 128 0.0546875 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - GOLGB1 Ala2218Val A2218V not reviewed Insufficiently evaluated not reviewed unknown Array rs56162367 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.59 - - 2 - 1 N - - GOT1L1 Pro345Leu P345L not reviewed Insufficiently evaluated not reviewed unknown Array rs28589845 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - GPR75 Ala116Thr A116T not reviewed Insufficiently evaluated not reviewed unknown Array rs34000641 275 10758 0.0255624 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRINL1A Lys152Glu K152E not reviewed Insufficiently evaluated not reviewed unknown Array rs28517767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRIP1 Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array rs17102531 140 10180 0.0137525 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTF2IRD2 Lys605Asn K605N not reviewed Insufficiently evaluated not reviewed unknown Array rs707394 1271 10756 0.118167 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - GYPE Gly13Ala G13A not reviewed Insufficiently evaluated not reviewed unknown Array rs28721877 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GZMH Arg84Pro R84P not reviewed Insufficiently evaluated not reviewed unknown Array rs20545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 5 Y 1 - 8 - - HCP5 Trp32Arg W32R not reviewed Insufficiently evaluated not reviewed unknown Array rs17206855 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HDC Phe553Leu F553L not reviewed Insufficiently evaluated not reviewed unknown Array rs16963486 263 10758 0.0244469 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - HERV-FRD Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HGF Glu304Lys E304K not reviewed Insufficiently evaluated not reviewed unknown Array rs5745687 549 10758 0.0510318 8 0 8 0 0 1 Y - - - - - - - - - - Y - - - 0.028 Y Y 0 - 3 - 3 - - HGF Glu299Lys E299K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - HIF3A Gln343Arg Q343R not reviewed Insufficiently evaluated not reviewed unknown Array rs3764609 1589 10758 0.147704 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HIF3A Gln341Arg Q341R not reviewed Insufficiently evaluated not reviewed unknown Array rs3764609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIF3A Gln287Arg Q287R not reviewed Insufficiently evaluated not reviewed unknown Array rs3764609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIVEP1 Thr2444Met T2444M not reviewed Insufficiently evaluated not reviewed unknown Array rs2228214 15 10136 0.00147987 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HLA-A Glu176Ala E176A not reviewed Insufficiently evaluated not reviewed unknown Array rs9256983 17 66 0.257576 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-A Ala270Ser A270S not reviewed Insufficiently evaluated not reviewed unknown Array rs1059631 1690 7510 0.225033 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-DMB Ala162Val A162V not reviewed Insufficiently evaluated not reviewed unknown Array rs2071555 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HLA-DRB5 Pro212Ala P212A not reviewed Insufficiently evaluated not reviewed unknown Array 930 9556 0.0973211 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - HN1 His59Tyr H59Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62620707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HN1 His105Tyr H105Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62620707 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - HRG Ser79Trp S79W not reviewed Insufficiently evaluated not reviewed unknown Array rs4516605 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - HSD17B4 Thr292Ser T292S not reviewed Insufficiently evaluated not reviewed unknown Array rs1143650 263 10756 0.0244515 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - HSPA12B Glu221Lys E221K not reviewed Insufficiently evaluated not reviewed unknown Array rs61734308 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - HSPA2 Cys191Ser C191S not reviewed Insufficiently evaluated not reviewed unknown Array rs45456191 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSPG2 Arg1186Gln R1186Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229481 856 10758 0.0795687 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - HYDIN Arg2938Lys R2938K not reviewed Insufficiently evaluated not reviewed unknown Array rs7188837 2 124 0.016129 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - HYDIN Thr2520Met T2520M not reviewed Insufficiently evaluated not reviewed unknown Array rs61454592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFNA10 Leu112Ile L112I not reviewed Insufficiently evaluated not reviewed unknown Array rs56035072 1826 10708 0.170527 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.946 - - -2 - 2 - 1 - - IFNA13 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10718 0.00149281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFNA17 Ile184Arg I184R not reviewed Insufficiently evaluated not reviewed unknown Array rs9298814 812 10736 0.0756334 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 8 - - IFNA4 Glu137Val E137V not reviewed Insufficiently evaluated not reviewed unknown Array rs3750480 1792 10662 0.168074 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 1 - - IFNA7 Leu112Ile L112I not reviewed Insufficiently evaluated not reviewed unknown Array 121 10710 0.0112979 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.946 - - -2 - 2 N - - IL13RA2 Trp111Arg W111R not reviewed Insufficiently evaluated not reviewed unknown Array rs17095919 111 8761 0.0126698 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 1 - 4 - - IP6K3 Glu347Lys E347K not reviewed Insufficiently evaluated not reviewed unknown Array rs36101795 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGB6 Val438Met V438M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737764 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - ITGB7 Gly629Ser G629S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754162 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - JMJD1C Asp2400Glu D2400E not reviewed Insufficiently evaluated not reviewed unknown Array rs34491125 254 9590 0.0264859 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.576 - - -2 - 1 N - - JMJD1C Asp2163Glu D2163E not reviewed Insufficiently evaluated not reviewed unknown Array rs34491125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNB1 Pro825Ser P825S not reviewed Insufficiently evaluated not reviewed unknown Array rs34467662 205 10758 0.0190556 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - KCNC4 Val287Ile V287I not reviewed Insufficiently evaluated not reviewed unknown Array rs55807673 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - KCNG4 Gly220Arg G220R not reviewed Insufficiently evaluated not reviewed unknown Array rs35959859 2 128 0.015625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KCNQ1 Thr600Met T600M not reviewed Insufficiently evaluated not reviewed unknown Array rs34516117 7 10700 0.000654205 3 0 3 0 0 1 Y - - - - - - - - - - Y - - - 0.579 Y Y 2 - 4 - 3 - - KCNQ1 Thr473Met T473M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 3 Y - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - KIAA0556 Asn172Ser N172S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738361 270 10758 0.0250976 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0922 Pro1574Leu P1574L not reviewed Insufficiently evaluated not reviewed unknown Array rs34343821 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0922 Pro1573Leu P1573L not reviewed Insufficiently evaluated not reviewed unknown Array rs34343821 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.046 - - 7 Y 0 N - - KIAA1024 Arg825Trp R825W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746211 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KIAA1324L Leu729Val L729V not reviewed Insufficiently evaluated not reviewed unknown Array rs34412146 543 10756 0.0504835 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1324L Leu489Val L489V not reviewed Insufficiently evaluated not reviewed unknown Array rs34412146 10 128 0.078125 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - KIAA1370 Lys668Glu K668E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731676 163 9368 0.0173997 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1383 Glu149Gly E149G not reviewed Insufficiently evaluated not reviewed unknown Array rs41271527 551 9942 0.0554214 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA1755 Arg510Stop R510X not reviewed Insufficiently evaluated not reviewed unknown Array rs41282820 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIF16B Arg824Ser R824S not reviewed Insufficiently evaluated not reviewed unknown Array rs2236144 342 10758 0.0317903 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF16B Gly810Arg G810R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236145 339 10758 0.0315114 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR2DL1 Thr333Ala T333A not reviewed Insufficiently evaluated not reviewed unknown Array rs2756923 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DL3 Pro37Arg P37R not reviewed Insufficiently evaluated not reviewed unknown Array rs613240 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIR2DL3 Glu237Lys E237K not reviewed Insufficiently evaluated not reviewed unknown Array rs597681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DL3 Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DS4 Tyr237Cys Y237C not reviewed Insufficiently evaluated not reviewed unknown Array rs1654643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIRREL2 Arg205Gln R205Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34494265 197 10758 0.018312 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.526 - - 0 - 1 N - - KIRREL2 Arg155Gln R155Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34494265 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLB Ala747Val A747V not reviewed Insufficiently evaluated not reviewed unknown Array rs35372803 402 10706 0.037549 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.139 - - 2 - 0 N - - KLK11 Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array rs2288892 6 10750 0.000558139 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - KNDC1 Thr265Ile T265I not reviewed Insufficiently evaluated not reviewed unknown Array rs34697182 98 10372 0.00944852 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KNDC1 Ala1057Val A1057V not reviewed Insufficiently evaluated not reviewed unknown Array rs34683692 131 10754 0.0121815 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KREMEN2 Ala408Pro A408P not reviewed Insufficiently evaluated not reviewed unknown Array rs11866302 892 9846 0.0905952 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT31 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array rs6503627 743 10756 0.0690777 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRT32 Asp371Glu D371E not reviewed Insufficiently evaluated not reviewed unknown Array rs2604956 806 10758 0.074921 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRTAP10-7 Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array rs70940584 7910 9208 0.859036 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP10-7 Arg62His R62H not reviewed Insufficiently evaluated not reviewed unknown Array rs4818725 7415 9234 0.803011 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-11 Arg167Gly R167G not reviewed Insufficiently evaluated not reviewed unknown Array rs349771 2053 3232 0.63521 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP4-5 Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array rs238830 529 10454 0.0506026 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-7 Asp18Val D18V not reviewed Insufficiently evaluated not reviewed unknown Array rs383835 1894 3200 0.591875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP4-9 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs7207685 2373 3198 0.742026 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LGI3 Ala524Thr A524T not reviewed Insufficiently evaluated not reviewed unknown Array rs34112456 228 10758 0.0211935 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.053 - - 1 - 0 N - - LILRB2 His300Tyr H300Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7247538 4897 10736 0.456129 22 0 30 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LIPE Asn499His N499H not reviewed Insufficiently evaluated not reviewed unknown Array rs33921216 96 10758 0.00892359 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - LOC100170229 Cys437Arg C437R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC129293 Pro381Leu P381L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC284422 Ser80Gly S80G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC391343 Arg152Trp R152W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC646227 His64Asp H64D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC729085 Gly539Ser G539S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LPA Met1598Thr M1598T not reviewed Insufficiently evaluated not reviewed unknown Array rs41264308 184 10020 0.0183633 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - LRP12 Ser694Gly S694G not reviewed Insufficiently evaluated not reviewed unknown Array rs16871494 397 10758 0.0369028 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - LRP12 Ser675Gly S675G not reviewed Insufficiently evaluated not reviewed unknown Array rs16871494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - LRRIQ3 Leu483Phe L483F not reviewed Insufficiently evaluated not reviewed unknown Array rs17094774 112 9488 0.0118044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.912 - - 0 - 2 N - - LSS Pro688Leu P688L not reviewed Insufficiently evaluated not reviewed unknown Array rs17293705 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LSS Pro677Leu P677L not reviewed Insufficiently evaluated not reviewed unknown Array rs17293705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LSS Pro608Leu P608L not reviewed Insufficiently evaluated not reviewed unknown Array rs17293705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - M6PRBP1 Leu107Ile L107I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - MAN2B2 Arg365Cys R365C not reviewed Insufficiently evaluated not reviewed unknown Array rs6858328 298 10758 0.0277003 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - MCM10 Thr741Lys T741K not reviewed Insufficiently evaluated not reviewed unknown Array rs41291311 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCM10 Thr742Lys T742K not reviewed Insufficiently evaluated not reviewed unknown Array rs41291311 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - MFSD3 Asp312Glu D312E not reviewed Insufficiently evaluated not reviewed unknown Array rs35971959 211 10756 0.019617 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - MLH3 Tyr720Cys Y720C not reviewed Insufficiently evaluated not reviewed unknown Array rs28756988 335 10758 0.0311396 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 6 - - MLL3 Gly845Glu G845E not reviewed Insufficiently evaluated not reviewed unknown Array rs4024419 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - MME Val345Ile V345I not reviewed Insufficiently evaluated not reviewed unknown Array rs61758194 19 10758 0.00176613 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MMRN2 Gly182Ala G182A not reviewed Insufficiently evaluated not reviewed unknown Array rs61736566 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.289 - - 1 - 1 N - - MORF4 Glu193Asp E193D not reviewed Insufficiently evaluated not reviewed unknown Array rs17080126 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - MRVI1 Pro186Ser P186S not reviewed Insufficiently evaluated not reviewed unknown Array rs35857561 400 10170 0.0393314 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MRVI1 Pro104Ser P104S not reviewed Insufficiently evaluated not reviewed unknown Array rs35857561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MTTP Gln244Glu Q244E not reviewed Insufficiently evaluated not reviewed unknown Array rs17599091 431 10758 0.0400632 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.092 - - -2 - 0 N - - MUC2 Val850Met V850M not reviewed Insufficiently evaluated not reviewed unknown Array rs41530046 126 10404 0.0121107 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUSK Met413Ile M413I not reviewed Insufficiently evaluated not reviewed unknown Array rs2274419 932 9752 0.0955701 5 0 5 0 0 2 Y - - - - - - - - - - Y - - - 0.008 Y Y -1 - 3 - 1 - - MYBL2 Ile624Met I624M not reviewed Insufficiently evaluated not reviewed unknown Array rs11556379 410 10758 0.0381112 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO18B Ser1390Phe S1390F not reviewed Insufficiently evaluated not reviewed unknown Array rs35578357 286 10398 0.0275053 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.654 - - 5 Y 1 N - - NACAD Ile625Leu I625L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740887 187 2746 0.0680991 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NBPF1 Cys591Gly C591G not reviewed Insufficiently evaluated not reviewed unknown Array rs3738661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF10 Pro200Ala P200A not reviewed Insufficiently evaluated not reviewed unknown Array rs28507779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCRNA00153 Ser603Leu S603L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NIACR1 Arg311Cys R311C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - NOB1 Tyr366Phe Y366F not reviewed Insufficiently evaluated not reviewed unknown Array rs1075935 483 10758 0.0448968 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.834 - - -4 - 2 - 3 - - NOP2 Thr136Met T136M not reviewed Insufficiently evaluated not reviewed unknown Array rs35556146 246 10468 0.0235002 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - NOTCH2 Leu1413His L1413H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 1 1 1 0 0 3 Y - - - - - - - - - - Y - - - 0.004 Y Y 6 Y 2 N - - NOTCH2 Asn46Ser N46S not reviewed Insufficiently evaluated not reviewed unknown Array rs61788900 2138 6660 0.321021 9 0 9 0 0 - Y - - - - - - - - - - Y - - - 0.922 Y Y 0 - 3 N - - NOTCH2 Glu38Lys E38K not reviewed Insufficiently evaluated not reviewed unknown Array rs61788901 2000 6550 0.305344 9 0 9 0 0 2 Y - - - - - - - - - - Y - - - 0.875 Y Y 0 - 3 N - - NOV Arg233His R233H not reviewed Insufficiently evaluated not reviewed unknown Array rs11538929 896 10758 0.0832869 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - NPSR1 Ser143Gly S143G not reviewed Insufficiently evaluated not reviewed unknown Array rs325465 109 10758 0.010132 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.796 - - 2 - 1 N - - NPTXR Ala452Thr A452T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737784 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - NR2E3 Arg366Cys R366C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 1 - - NRAP Leu1649Gln L1649Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4918857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - NRAP Leu1684Gln L1684Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4918857 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - NTN4 Tyr205His Y205H not reviewed Insufficiently evaluated not reviewed unknown Array rs17288108 1374 10758 0.127719 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NUBP1 Pro39Ala P39A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233531 1083 10728 0.100951 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - NUDCD1 Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11550168 248 10758 0.0230526 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NUDCD1 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11550168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP153 Asp90Asn D90N not reviewed Insufficiently evaluated not reviewed unknown Array rs16879902 755 10758 0.0701803 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OBSCN Gly3780Arg G3780R not reviewed Insufficiently evaluated not reviewed unknown Array rs56218706 318 10584 0.0300454 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OPRM1 Arg401Stop R401X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR10G4 Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array rs12422129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - OR10G4 Pro181Ser P181S not reviewed Insufficiently evaluated not reviewed unknown Array rs1893764 2 118 0.0169492 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.793 - - 3 - 1 N - - OR10G9 Ser207Leu S207L not reviewed Insufficiently evaluated not reviewed unknown Array rs12363627 2 122 0.0163934 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR11H12 Leu235Ile L235I not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.502 - - -2 - 1 N - - OR11H12 Met243Thr M243T not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.913 - - 2 - 2 N - - OR14A16 Leu199Arg L199R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734861 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 6 Y 0 N - - OR2A1 Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2A1 Ser168Cys S168C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2A42 Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2A42 Ser162Cys S162C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2L3 Gln169Arg Q169R not reviewed Insufficiently evaluated not reviewed unknown Array rs56834114 2817 10754 0.261949 26 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2T29 Val90Ile V90I not reviewed Insufficiently evaluated not reviewed unknown Array 3267 4644 0.703488 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR2T29 Ser55Thr S55T not reviewed Insufficiently evaluated not reviewed unknown Array 1445 7182 0.201197 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR2T29 His52Tyr H52Y not reviewed Insufficiently evaluated not reviewed unknown Array 1545 8680 0.177995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR2T29 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 1941 8974 0.216292 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2T29 Gly39Glu G39E not reviewed Insufficiently evaluated not reviewed unknown Array 2481 9508 0.260938 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2T4 Phe135Leu F135L not reviewed Insufficiently evaluated not reviewed unknown Array rs28637620 778 10756 0.0723317 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - OR2W3 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs61752499 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2W3 Cys88Tyr C88Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61748699 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - OR4M1 Glu311Lys E311K not reviewed Insufficiently evaluated not reviewed unknown Array rs2318549 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4N2 Pro58Ala P58A not reviewed Insufficiently evaluated not reviewed unknown Array rs11621883 13 120 0.108333 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - OR51D1 Phe75Leu F75L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740347 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.91 - - 0 - 2 N - - OR51D1 Gln183Arg Q183R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746547 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51E1 Ser11Asn S11N not reviewed Insufficiently evaluated not reviewed unknown Array rs17224476 945 10758 0.0878416 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR52E4 Phe49Leu F49L not reviewed Insufficiently evaluated not reviewed unknown Array rs16914094 1 128 0.0078125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - OR52I1 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array rs62622512 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR52I1 Leu284Pro L284P not reviewed Insufficiently evaluated not reviewed unknown Array rs61997192 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - OR6B2 Pro129Leu P129L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR7G3 Arg307Ser R307S not reviewed Insufficiently evaluated not reviewed unknown Array rs34694385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.165 - - 3 - 0 N - - OTUD6B Arg313Gln R313Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3210518 472 10750 0.043907 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - P704P Val308Ala V308A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAPLN Ala434Val A434V not reviewed Insufficiently evaluated not reviewed unknown Array rs17126354 413 10758 0.03839 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - PCDH1 Ala514Thr A514T not reviewed Insufficiently evaluated not reviewed unknown Array rs3822357 566 10758 0.052612 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCLO Glu2927Asp E2927D not reviewed Insufficiently evaluated not reviewed unknown Array rs10630259 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDIA5 Ala73Val A73V not reviewed Insufficiently evaluated not reviewed unknown Array rs61996316 362 10758 0.0336494 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDPR Asn611Ile N611I not reviewed Insufficiently evaluated not reviewed unknown Array rs7192962 475 4540 0.104626 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - PECR Val169Leu V169L not reviewed Insufficiently evaluated not reviewed unknown Array rs62001895 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PIAS3 Ser390Cys S390C not reviewed Insufficiently evaluated not reviewed unknown Array rs17354559 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PIGW His235Gln H235Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61755368 54 10746 0.00502513 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PIK3CG Thr330Met T330M not reviewed Insufficiently evaluated not reviewed unknown Array rs62001906 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.269 - - 2 - 1 N - - PION Trp653Leu W653L not reviewed Insufficiently evaluated not reviewed unknown Array rs17151689 625 9978 0.0626378 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - PKD1L2 Leu919Met L919M not reviewed Insufficiently evaluated not reviewed unknown Array rs745211 737 10174 0.0724396 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PKD1L2 Ser289Arg S289R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734425 113 9856 0.0114651 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC1 Thr3317Met T3317M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Thr3327Met T3327M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Thr3335Met T3335M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Thr3349Met T3349M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Thr3353Met T3353M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Thr3376Met T3376M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLEC1 Thr3486Met T3486M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PLG Glu57Lys E57K not reviewed Insufficiently evaluated not reviewed unknown Array rs4252070 161 10758 0.0149656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 1 - 7 - - PLG Arg408Trp R408W not reviewed Insufficiently evaluated not reviewed unknown Array rs4252119 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PMS1 Met394Thr M394T not reviewed Insufficiently evaluated not reviewed unknown Array rs1145231 169 10752 0.015718 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PMS1 Met355Thr M355T not reviewed Insufficiently evaluated not reviewed unknown Array rs1145231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PMS1 Gly501Arg G501R not reviewed Insufficiently evaluated not reviewed unknown Array rs1145232 150 10722 0.0139899 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PMS1 Gly462Arg G462R not reviewed Insufficiently evaluated not reviewed unknown Array rs1145232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PMS1 Lys548Arg K548R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736576 48 10746 0.00446678 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - PMS1 Lys509Arg K509R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736576 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PMS1 Tyr754His Y754H not reviewed Insufficiently evaluated not reviewed unknown Array rs1145234 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PMS1 Tyr793His Y793H not reviewed Insufficiently evaluated not reviewed unknown Array rs1145234 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PMS1 Tyr631His Y631H not reviewed Insufficiently evaluated not reviewed unknown Array rs1145234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - -1 - 1 N - - POLI Asp15Gly D15G not reviewed Insufficiently evaluated not reviewed unknown Array rs10584411 1 112 0.00892857 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLR1B Asn371His N371H not reviewed Insufficiently evaluated not reviewed unknown Array rs35318690 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.555 - - 0 - 1 N - - POLR1B Asn315His N315H not reviewed Insufficiently evaluated not reviewed unknown Array rs35318690 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POM121C Gly904Ser G904S not reviewed Insufficiently evaluated not reviewed unknown Array 491 10092 0.0486524 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POTEC Ser337Cys S337C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POTEC Cys72Tyr C72Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45554841 170 3234 0.0525665 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - POTEF Glu867Asp E867D not reviewed Insufficiently evaluated not reviewed unknown Array rs2599794 4149 10228 0.405651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PPIAL4G Gly74Asp G74D not reviewed Insufficiently evaluated not reviewed unknown Array rs6604514 27 7784 0.00346865 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.099 - - 4 Y 0 N - - PPIAL4G His69Arg H69R not reviewed Insufficiently evaluated not reviewed unknown Array rs61824238 116 7786 0.0148985 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAME Leu47Met L47M not reviewed Insufficiently evaluated not reviewed unknown Array rs41310248 267 10758 0.0248187 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - PRAMEF1 Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array 817 10758 0.0759435 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRAMEF14 Pro416Leu P416L not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PRAMEF14 Ser414Stop S414X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRAMEF18 Ser304Phe S304F not reviewed Insufficiently evaluated not reviewed unknown Array 5065 5272 0.960736 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PRAMEF18 Lys292Arg K292R not reviewed Insufficiently evaluated not reviewed unknown Array 2853 2956 0.965156 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PRAMEF19 Ser304Phe S304F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRAMEF19 Lys292Arg K292R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRAMEF6 Cys166Tyr C166Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 52 0.0961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - PREP Leu351Val L351V not reviewed Insufficiently evaluated not reviewed unknown Array rs12192054 1457 10758 0.135434 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRSS12 Arg797Cys R797C not reviewed Insufficiently evaluated not reviewed unknown Array rs35996030 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PRSS36 Glu203Lys E203K not reviewed Insufficiently evaluated not reviewed unknown Array rs61747561 154 10758 0.0143149 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS7 Ser308Phe S308F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSAPL1 Arg178His R178H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740031 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSAPL1 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array rs56402179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSD4 Glu339Lys E339K not reviewed Insufficiently evaluated not reviewed unknown Array rs61756444 40 10696 0.00373972 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PSMB9 Val32Ile V32I not reviewed Insufficiently evaluated not reviewed unknown Array rs241419 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PSMB9 Val22Ile V22I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTK7 Asn410Tyr N410Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34021075 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTK7 Thr410Ser T410S not reviewed Insufficiently evaluated not reviewed unknown Array rs34021075 160 10700 0.0149533 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.374 - - -2 - 1 N - - PTPMT1 Ser93Leu S93L not reviewed Insufficiently evaluated not reviewed unknown Array rs11537751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRB Gly180Ser G180S not reviewed Insufficiently evaluated not reviewed unknown Array rs7298147 528 9680 0.0545455 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - PWP2 Phe551Ile F551I not reviewed Insufficiently evaluated not reviewed unknown Array rs17856422 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 1 N - - PXDNL Arg583Gln R583Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16916235 430 10494 0.0409758 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 1 N - - PZP Val813Ala V813A not reviewed Insufficiently evaluated not reviewed unknown Array rs2277413 3324 10758 0.308979 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PZP Val691Met V691M not reviewed Insufficiently evaluated not reviewed unknown Array rs3213832 986 10758 0.0916527 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - R3HDM2 Thr35Ala T35A not reviewed Insufficiently evaluated not reviewed unknown Array rs11832661 125 3234 0.0386518 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - RAB3GAP2 Ser1092Thr S1092T not reviewed Insufficiently evaluated not reviewed unknown Array rs2289189 739 10758 0.0686931 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.924 - - -2 - 1 N - - RBMXL3 Asp398Asn D398N not reviewed Insufficiently evaluated not reviewed unknown Array rs12399211 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RFPL4A Val179Glu V179E not reviewed Insufficiently evaluated not reviewed unknown Array rs71256875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RGPD3 Lys823Met K823M not reviewed Insufficiently evaluated not reviewed unknown Array rs62152467 344 1992 0.172691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RGPD4 Trp1646Arg W1646R not reviewed Insufficiently evaluated not reviewed unknown Array rs832352 2208 3206 0.688709 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RHOBTB3 Thr429Met T429M not reviewed Insufficiently evaluated not reviewed unknown Array rs41276257 762 10758 0.070831 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.11 - - 2 - 0 N - - RIC8A His272Gln H272Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34925440 125 10758 0.0116193 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIPK1 Ala569Val A569V not reviewed Insufficiently evaluated not reviewed unknown Array rs55861377 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - RNF25 Arg184Trp R184W not reviewed Insufficiently evaluated not reviewed unknown Array rs41272683 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - ROS1 Ser1109Leu S1109L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229079 833 10758 0.0774307 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.284 - - 6 Y 1 - 3 - - RP1 Thr752Met T752M not reviewed Insufficiently evaluated not reviewed unknown Array rs28399531 107 10738 0.00996461 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - RPS6KA3 Ile38Ser I38S not reviewed Insufficiently evaluated not reviewed unknown Array rs56218010 180 8761 0.0205456 3 0 6 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 3 - - RPS6KA6 Asp692Asn D692N not reviewed Insufficiently evaluated not reviewed unknown Array rs6616890 447 8759 0.0510332 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SACS Lys2958Arg K2958R not reviewed Insufficiently evaluated not reviewed unknown Array 290 10756 0.0269617 1 0 1 0 0 2 Y - - - - - - - - - - Y - - - 0.884 Y Y -3 - 4 N - - SCAF1 Ala98Ser A98S not reviewed Insufficiently evaluated not reviewed unknown Array rs45513592 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCAF1 Met1146Thr M1146T not reviewed Insufficiently evaluated not reviewed unknown Array rs2304208 10 10758 0.00092954 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCARA5 Arg471His R471H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737287 296 10758 0.0275144 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SCEL Leu491Phe L491F not reviewed Insufficiently evaluated not reviewed unknown Array rs41306017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCEL Leu511Phe L511F not reviewed Insufficiently evaluated not reviewed unknown Array rs41306017 13 10756 0.00120863 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCEL Leu469Phe L469F not reviewed Insufficiently evaluated not reviewed unknown Array rs41306017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCGB1C1 Cys16Tyr C16Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61736219 1598 10444 0.153007 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SCIN Phe455Leu F455L not reviewed Insufficiently evaluated not reviewed unknown Array rs17166250 455 10138 0.0448806 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.354 - - 0 - 1 N - - SCIN Phe208Leu F208L not reviewed Insufficiently evaluated not reviewed unknown Array rs17166250 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCN5A Arg34Cys R34C benign Insufficiently evaluated benign unknown Array rs6791924 305 9958 0.0306286 6 0 6 5 5 4 Y - - - - - - - - - - Y - - Y - Y Y 8 Y 5 N 10 - - SNC5A is the cardiac sodium channel gene. Mutations in this gene have been associated with idiopathic ventricular fibrillation and Burgunda Syndrome, however, the R34C mutation of the gene has been largely identified as benign with no noticeable phenotypic effect. Although this gene is associated with acquired Long-QT syndrome (alQTS) Yang et al. found no difference in the frequency of this variant in alQTS patients and controls (3% versus 3%). SCN9A Pro610Thr P610T not reviewed Insufficiently evaluated not reviewed unknown Array rs41268673 210 10628 0.0197591 2 0 2 0 0 2 Y - - - - - - - - - - Y - - - 0.005 Y Y 4 Y 3 - 9 - - SEC14L4 Glu134Stop E134X not reviewed Insufficiently evaluated not reviewed unknown Array rs35032582 351 10758 0.0326269 7 0 8 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 2 N - - SELL Asn369Asp N369D not reviewed Insufficiently evaluated not reviewed unknown Array rs4987382 470 9456 0.0497039 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH2D3C Gly100Arg G100R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233510 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - SH2D3C Gly294Arg G294R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233510 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - SH2D3C Gly296Arg G296R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233510 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - SH2D3C Gly297Arg G297R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233510 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - SH2D3C Gly454Arg G454R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233510 29 10754 0.00269667 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 2 - 1 - - SH2D4A Lys240Arg K240R not reviewed Insufficiently evaluated not reviewed unknown Array rs35197358 55 10758 0.00511247 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - SHC2 Ala313Ser A313S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748922 59 10366 0.00569168 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIRPB1 Asp324Gly D324G not reviewed Insufficiently evaluated not reviewed unknown Array rs41297640 178 10758 0.0165458 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.891 - - 4 Y 2 N - - SLC2A6 His75Tyr H75Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35885350 166 10758 0.0154304 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - SLC37A2 Gly268Ser G268S not reviewed Insufficiently evaluated not reviewed unknown Array rs34485243 346 10758 0.0321621 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC39A4 Glu259Lys E259K not reviewed Insufficiently evaluated not reviewed unknown Array rs7823979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC39A4 Glu284Lys E284K not reviewed Insufficiently evaluated not reviewed unknown Array rs7823979 341 10758 0.0316973 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC40A1 Gln248His Q248H not reviewed Insufficiently evaluated not reviewed unknown Array rs11568350 213 10758 0.0197992 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 10 - - SLC6A13 Val426Ile V426I not reviewed Insufficiently evaluated not reviewed unknown Array rs577294 404 10758 0.0375534 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC6A4 Gly56Ala G56A not reviewed Insufficiently evaluated not reviewed unknown Array rs6355 164 10758 0.0152445 3 0 4 1 0 - Y - - - - - - - - - - Y - - - 0.001 Y Y 1 - 3 - 10 - - SLC8A1 Arg613His R613H not reviewed Insufficiently evaluated not reviewed unknown Array rs5556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SLCO5A1 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array rs34148850 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPATC1 Ser65Pro S65P not reviewed Insufficiently evaluated not reviewed unknown Array rs60050811 372 3234 0.115028 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 0 N - - SRFBP1 Phe253Leu F253L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734326 777 9618 0.080786 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SSPO His3835Tyr H3835Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10250401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSPO Pro3904Leu P3904L not reviewed Insufficiently evaluated not reviewed unknown Array rs1557956 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Ala4033Ser A4033S not reviewed Insufficiently evaluated not reviewed unknown Array rs1005603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSPO Gly4513Ser G4513S not reviewed Insufficiently evaluated not reviewed unknown Array rs4389841 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Ala4546Val A4546V not reviewed Insufficiently evaluated not reviewed unknown Array rs12673475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSPO Ala4655Ser A4655S not reviewed Insufficiently evaluated not reviewed unknown Array rs62617122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSPO Ser5066Leu S5066L not reviewed Insufficiently evaluated not reviewed unknown Array rs10261977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ST3GAL1 Asn111Ser N111S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230544 322 10758 0.0299312 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK10 Ser853Leu S853L not reviewed Insufficiently evaluated not reviewed unknown Array rs56066852 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - STON2 Gln321Arg Q321R not reviewed Insufficiently evaluated not reviewed unknown Array rs35419112 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - STX16 Arg148Gln R148Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41276950 337 10566 0.0318948 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.622 Y - 0 - 2 N - - STX16 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41276950 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - STX16 Arg144Gln R144Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41276950 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - STX16 Arg127Gln R127Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41276950 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SUMF2 Asp227Asn D227N not reviewed Insufficiently evaluated not reviewed unknown Array rs35384521 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SUMF2 Asp212Asn D212N not reviewed Insufficiently evaluated not reviewed unknown Array rs35384521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SUMF2 Asp143Asn D143N not reviewed Insufficiently evaluated not reviewed unknown Array rs35384521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SUMF2 Asp120Asn D120N not reviewed Insufficiently evaluated not reviewed unknown Array rs35384521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SYNGR4 Met50Thr M50T not reviewed Insufficiently evaluated not reviewed unknown Array rs34282921 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - TACC2 Gly876Arg G876R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753077 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC2 Gly778Arg G778R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753077 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC2 Gly808Arg G808R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753077 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC2 Gly2730Arg G2730R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753077 291 10758 0.0270496 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - TACC3 Glu143Lys E143K not reviewed Insufficiently evaluated not reviewed unknown Array rs34205238 1455 10756 0.135273 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.149 - - 0 - 0 N - - TALDO1 Lys321Arg K321R not reviewed Insufficiently evaluated not reviewed unknown Array rs11302 155 10758 0.0144079 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.884 Y - -3 - 3 N - - TAOK2 Arg1211His R1211H not reviewed Insufficiently evaluated not reviewed unknown Array rs11864149 835 9824 0.0849959 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.276 - - 1 - 1 - 1 - - TAS2R31 Gln217Glu Q217E not reviewed Insufficiently evaluated not reviewed unknown Array rs10845294 2326 10754 0.216292 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.729 - - -2 - 0 N - - TBX15 Met460Arg M460R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730011 377 10758 0.0350437 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TDRD12 Thr181Ala T181A not reviewed Insufficiently evaluated not reviewed unknown Array rs7260392 71 3234 0.0219542 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - TEX15 Lys1439Arg K1439R not reviewed Insufficiently evaluated not reviewed unknown Array rs323343 251 10756 0.0233358 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TG Pro1707Ser P1707S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744678 900 10758 0.0836587 9 0 10 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 3 - 1 N - - TLR3 Ser737Thr S737T not reviewed Insufficiently evaluated not reviewed unknown Array rs5743318 127 10758 0.0118052 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TLR6 Val427Ala V427A not reviewed Insufficiently evaluated not reviewed unknown Array rs5743815 119 10758 0.0110615 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TM9SF1 Ile175Met I175M not reviewed Insufficiently evaluated not reviewed unknown Array rs62621251 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - TMPRSS5 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11601425 814 10468 0.0777608 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMTC2 Ala315Thr A315T not reviewed Insufficiently evaluated not reviewed unknown Array rs1201791 416 10758 0.0386689 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TNFRSF10D Thr345Pro T345P not reviewed Insufficiently evaluated not reviewed unknown Array rs34622674 321 10758 0.0298383 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNIK Ala999Thr A999T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 646 9774 0.0660937 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TNIK Ala991Thr A991T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIK Ala970Thr A970T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIK Ala962Thr A962T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIK Ala944Thr A944T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIK Ala936Thr A936T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIK Ala915Thr A915T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIK Ala907Thr A907T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIP3 Lys99Glu K99E not reviewed Insufficiently evaluated not reviewed unknown Array rs10000692 206 10748 0.0191664 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TNS3 Thr1050Ala T1050A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731308 330 10136 0.0325572 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNXB Val3186Ile V3186I not reviewed Insufficiently evaluated not reviewed unknown Array rs41258944 513 6582 0.0779398 9 0 9 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - TPSAB1 Val76Leu V76L not reviewed Insufficiently evaluated not reviewed unknown Array 815 10752 0.0757999 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TPSB2 Arg225Trp R225W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPSD1 Ile87Val I87V not reviewed Insufficiently evaluated not reviewed unknown Array rs2401930 1342 10756 0.124768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TREML2 Thr129Ser T129S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734887 363 10758 0.0337423 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - -2 - 2 N - - TRIM24 Asn762Ser N762S not reviewed Insufficiently evaluated not reviewed unknown Array rs35356723 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TRIM24 Asn796Ser N796S not reviewed Insufficiently evaluated not reviewed unknown Array rs35356723 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TRPM1 Pro1379Thr P1379T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734298 283 9596 0.0294915 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 1 - 1 - - TRPM2 Val934Ile V934I not reviewed Insufficiently evaluated not reviewed unknown Array rs56379273 116 10700 0.0108411 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TSGA10IP Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array rs565921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSP50 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSSC4 His17Pro H17P not reviewed Insufficiently evaluated not reviewed unknown Array rs2234278 212 10694 0.0198242 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - TTC29 Leu94Pro L94P not reviewed Insufficiently evaluated not reviewed unknown Array rs35123039 285 9836 0.0289752 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 1 - 4 - - TTC38 Glu267Lys E267K not reviewed Insufficiently evaluated not reviewed unknown Array rs35883013 83 9886 0.00839571 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - TTF1 Glu473Lys E473K not reviewed Insufficiently evaluated not reviewed unknown Array rs12336746 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.453 Y - 0 - 2 N - - TUBA3E Ser101Asn S101N not reviewed Insufficiently evaluated not reviewed unknown Array rs3863907 3330 10712 0.310866 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TUBB4Q Leu155Pro L155P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TULP3 Pro494Leu P494L not reviewed Insufficiently evaluated not reviewed unknown Array rs3944066 100 3234 0.0309215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - UHRF1BP1L Ser1147Leu S1147L not reviewed Insufficiently evaluated not reviewed unknown Array rs7296162 801 10756 0.0744701 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - UNC93A Met403Ile M403I not reviewed Insufficiently evaluated not reviewed unknown Array rs9459921 1134 10742 0.105567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 1 - - UNC93A Met361Ile M361I not reviewed Insufficiently evaluated not reviewed unknown Array rs9459921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - USP36 Gly704Ser G704S not reviewed Insufficiently evaluated not reviewed unknown Array rs34121152 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - UTP14A Val256Met V256M not reviewed Insufficiently evaluated not reviewed unknown Array rs35183830 198 8761 0.0226002 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - VIL1 Glu235Lys E235K not reviewed Insufficiently evaluated not reviewed unknown Array rs35721947 178 10758 0.0165458 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWA5B1 Ala1062Gly A1062G not reviewed Insufficiently evaluated not reviewed unknown Array rs61742174 19 3234 0.00587508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VWDE Cys1298Phe C1298F not reviewed Insufficiently evaluated not reviewed unknown Array rs17165872 110 3232 0.0340347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WBP2NL Cys170Phe C170F not reviewed Insufficiently evaluated not reviewed unknown Array rs17002802 392 10758 0.036438 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - WDHD1 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDHD1 Arg373Gln R373Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744418 367 10758 0.0341141 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.655 - - 0 - 1 N - - WDR33 Arg274Gln R274Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17534123 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR64 Lys77Asn K77N not reviewed Insufficiently evaluated not reviewed unknown Array rs56327926 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR66 Arg188Trp R188W not reviewed Insufficiently evaluated not reviewed unknown Array rs34703321 61 9634 0.00633174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR67 Arg414His R414H not reviewed Insufficiently evaluated not reviewed unknown Array rs16897967 78 10730 0.00726934 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 3 - 3 - - WDR67 Val709Phe V709F not reviewed Insufficiently evaluated not reviewed unknown Array rs16898023 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 1 - 3 - - WFDC1 Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array rs35464240 196 10758 0.018219 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.36 - - -4 - 1 N - - WIF1 Pro361Thr P361T not reviewed Insufficiently evaluated not reviewed unknown Array rs61761621 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.926 - - 4 Y 2 N - - XIRP1 Ile1724Val I1724V not reviewed Insufficiently evaluated not reviewed unknown Array rs9827576 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XIRP1 Ser1354Leu S1354L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736127 151 10758 0.0140361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - YIPF5 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array rs35429531 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ZBBX His346Arg H346R not reviewed Insufficiently evaluated not reviewed unknown Array rs34465133 146 9600 0.0152083 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB39 Val557Ile V557I not reviewed Insufficiently evaluated not reviewed unknown Array rs61752546 188 10758 0.0174754 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ZC3HC1 Thr206Ile T206I not reviewed Insufficiently evaluated not reviewed unknown Array rs34752500 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - ZCCHC6 Arg560Gln R560Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41310053 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ZFAT Arg660Lys R660K not reviewed Insufficiently evaluated not reviewed unknown Array rs35003767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFAT Arg672Lys R672K not reviewed Insufficiently evaluated not reviewed unknown Array rs35003767 187 10128 0.0184637 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 0 N - - ZNF208 Glu456Gln E456Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7255075 401 10552 0.0380023 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - ZNF263 Val534Ile V534I not reviewed Insufficiently evaluated not reviewed unknown Array rs34236132 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.699 - - -4 - 2 - 4 - - ZNF443 Gly482Arg G482R not reviewed Insufficiently evaluated not reviewed unknown Array rs34507016 2921 10754 0.27162 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF48 Gln21Arg Q21R not reviewed Insufficiently evaluated not reviewed unknown Array rs7200143 378 10046 0.0376269 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF485 Arg22Trp R22W not reviewed Insufficiently evaluated not reviewed unknown Array rs45545532 399 3234 0.123377 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF57 Thr150Met T150M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743150 224 10758 0.0208217 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - ZNF574 Thr711Ser T711S not reviewed Insufficiently evaluated not reviewed unknown Array rs35898322 304 10746 0.0282896 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF595 Leu580Arg L580R not reviewed Insufficiently evaluated not reviewed unknown Array rs10012284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF619 Glu76Gln E76Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28448862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF619 Glu160Gln E160Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28448862 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - -2 - 1 N - - ZNF619 Glu111Gln E111Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - -2 - 1 N - - ZNF619 Glu120Gln E120Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28448862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF619 Glu104Gln E104Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28448862 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.345 - - -2 - 1 N - - ZNF665 Asn349Ser N349S not reviewed Insufficiently evaluated not reviewed unknown Array rs45499997 523 10758 0.048615 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF705A Leu37Met L37M not reviewed Insufficiently evaluated not reviewed unknown Array 134 5024 0.026672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - -3 - 0 N - - ZNF77 Gln100Stop Q100X not reviewed Insufficiently evaluated not reviewed unknown Array rs35699176 399 10758 0.0370887 4 0 4 0 0 2 Y - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ZNF782 Asn246Ser N246S not reviewed Insufficiently evaluated not reviewed unknown Array rs34763627 849 10754 0.0789474 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF853 Gln212Glu Q212E not reviewed Insufficiently evaluated not reviewed unknown Array rs11971880 367 3234 0.113482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZSCAN22 Gln129Leu Q129L not reviewed Insufficiently evaluated not reviewed unknown Array rs45473503 31 10740 0.0028864 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - A2ML1 Asp287Glu D287E not reviewed Insufficiently evaluated not reviewed unknown Array rs61921916 94 9948 0.00944913 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.674 - - -2 - 1 N - - AARS Lys967Met K967M benign Low clinical importance, Uncertain benign unknown Array rs35744709 116 10758 0.0107827 3 0 3 1 1 ! Y - - 1 Y 0 Y - - - - - - - - 0.866 - - 4 Y 2 N 0 0 Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2 and other variants are reported to cause Chacot-Marie-Tooth neuropathy in a dominant manner. ABCA13 Arg1872His R1872H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA3 Arg1393Gln R1393Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.351 Y - 0 - 2 N - - ABCA9 Arg1427Stop R1427X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCB1 Cys431Trp C431W not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCB4 Cys433Trp C433W not reviewed Insufficiently evaluated not reviewed unknown Array 500 10758 0.046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - ABCC11 Thr1338Pro T1338P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ABCC11 Thr1376Pro T1376P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - ABCC3 Val1257Gly V1257G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - ABCC8 Val1572Ile V1572I not reviewed Insufficiently evaluated not reviewed unknown Array rs8192690 592 10758 0.0550288 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 - 8 - - ABLIM1 Cys101Trp C101W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABLIM1 Cys161Trp C161W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABLIM3 Ser357Thr S357T not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ACAD10 Ala880Val A880V not reviewed Insufficiently evaluated not reviewed unknown Array rs34245489 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 4 - - ACAD10 Ala911Val A911V not reviewed Insufficiently evaluated not reviewed unknown Array 340 10758 0.0316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - ACHE His353Asn H353N not reviewed Insufficiently evaluated not reviewed unknown Array rs1799805 368 10758 0.0342071 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - ACIN1 Asn20Ser N20S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745081 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 3 - 1 - - ACO2 Val163Leu V163L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ACTR5 Gly77Ser G77S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - ADAM32 Arg656His R656H not reviewed Insufficiently evaluated not reviewed unknown Array 9 9518 0.000945576 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 1 - 2 N - - ADAMTS18 Arg827His R827H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ADAMTSL1 Asn662Ser N662S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTSL3 Arg787Trp R787W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ADCY8 Ala204Ser A204S not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.306 - - -1 - 1 N - - ADORA3 Ile248Leu I248L not reviewed Insufficiently evaluated not reviewed unknown Array rs35511654 1181 10758 0.109779 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.796 - - -2 - 0 N - - AGBL1 Ser435Pro S435P not reviewed Insufficiently evaluated not reviewed unknown Array rs11857527 1602 9710 0.164985 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.354 - - 3 - 0 N - - AGBL1 Asn1050Ser N1050S not reviewed Insufficiently evaluated not reviewed unknown Array rs1006030 32 9610 0.00332986 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGRN Glu728Val E728V not reviewed Insufficiently evaluated not reviewed unknown Array rs113288277 324 10752 0.0301339 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 5 Y 3 N - - AHNAK Gly2527Asp G2527D not reviewed Insufficiently evaluated not reviewed unknown Array 309 10758 0.0287228 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - AHNAK Glu2176Asp E2176D not reviewed Insufficiently evaluated not reviewed unknown Array 356 10758 0.0330917 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - AHNAK Thr1576Met T1576M not reviewed Insufficiently evaluated not reviewed unknown Array 358 10758 0.0332776 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHR Thr443Pro T443P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - AIF1L Met125Val M125V not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.705 - - 0 - 1 N - - AK3 Ile140Phe I140F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - AKAP12 Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - AKAP12 Arg308His R308H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - AKAP12 Ser789Cys S789C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP12 Ser887Cys S887C not reviewed Insufficiently evaluated not reviewed unknown Array rs61748676 266 10758 0.0247258 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.883 - - 3 - 2 N - - AKAP5 Pro100Leu P100L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230491 1184 10756 0.110078 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ALKBH6 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AMPD1 Ser524Thr S524T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.825 Y - -2 - 2 N - - AMT Glu211Lys E211K not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 3 - 4 - - ANK3 Thr3968Pro T3968P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKAR His362Arg H362R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10640 0.00103383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKAR Cys552Tyr C552Y not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD10 Thr289Met T289M not reviewed Insufficiently evaluated not reviewed unknown Array rs34910313 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD17 Leu912Pro L912P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 7 Y 1 N - - ANKRD30A Gln621Glu Q621E not reviewed Insufficiently evaluated not reviewed unknown Array rs41304589 475 9442 0.0503071 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANO1 Phe608Ser F608S not reviewed Insufficiently evaluated not reviewed unknown Array 496 9898 0.0501111 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 2 - - ANO7 Arg148His R148H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANO7 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.699 - - 1 - 1 N - - ANXA8L2 Asn192Lys N192K not reviewed Insufficiently evaluated not reviewed unknown Array rs977788 4532 9488 0.477656 32 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AP4B1 Cys691Trp C691W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.794 - - 7 Y 1 N - - APCDD1L Glu25Gly E25G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AQP12B Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array 2319 10716 0.216405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARFGEF2 Arg1092His R1092H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - ARRDC5 Ser67Asn S67N not reviewed Insufficiently evaluated not reviewed unknown Array 7 9830 0.000712105 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATOH1 Val99Gly V99G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATP10A Glu834Lys E834K not reviewed Insufficiently evaluated not reviewed unknown Array rs17555920 424 10758 0.0394125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 5 - - ATP13A1 Gln1086Glu Q1086E not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATP1A1 Val683Gly V683G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATP1A1 Val714Gly V714G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ATP5SL Arg146Cys R146C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 8 Y 0 N - - ATP8B4 Thr884Ile T884I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 3 - 2 N - - ATRNL1 Ile390Val I390V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - B3GNT7 His116Pro H116P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - B4GALT6 Ile379Val I379V not reviewed Insufficiently evaluated not reviewed unknown Array rs34683195 358 10756 0.0332837 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BACH1 Ile498Phe I498F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.846 Y Y 2 - 3 N - - BAGE2 Arg95Thr R95T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - BAGE3 Arg95Thr R95T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - BCAM Ser275Phe S275F not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.831 Y - 5 Y 3 - 1 - - BCAR1 Arg491His R491H not reviewed Insufficiently evaluated not reviewed unknown Array rs16957558 237 10712 0.0221247 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - BLNK Ala158Ser A158S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BLVRA Tyr72Cys Y72C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - BMP7 Glu93Gly E93G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 4 - - BOD1L Thr429Met T429M not reviewed Insufficiently evaluated not reviewed unknown Array rs2035820 1657 10758 0.154025 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BRD8 Val1194Gly V1194G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 8 Y 0 N - - BTN1A1 Val250Gly V250G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BXDC5 Ser10Cys S10C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C10ORF62 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10728 0.000372856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF48 His48Tyr H48Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF30 Arg723Gln R723Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF72 Ala94Ser A94S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736289 386 10758 0.0358803 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF138 Tyr188Asp Y188D not reviewed Insufficiently evaluated not reviewed unknown Array 54 9462 0.00570704 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF177 Arg3Trp R3W not reviewed Insufficiently evaluated not reviewed unknown Array rs17097718 454 10744 0.0422561 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Arg293Gln R293Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF80 Arg334Gln R334Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF80 Arg367Gln R367Q not reviewed Insufficiently evaluated not reviewed unknown Array 291 10484 0.0277566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF68 Pro574Ser P574S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10098 0.00138641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF40 Ser126Phe S126F not reviewed Insufficiently evaluated not reviewed unknown Array rs36017455 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - C1ORF107 Lys18Glu K18E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF166 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10736 0.00307377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - C20ORF39 Gly54Arg G54R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - C22ORF30 Met876Val M876V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF43 Ser81Gly S81G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF49 Gly185Asp G185D not reviewed Insufficiently evaluated not reviewed unknown Array rs28930676 610 10758 0.056702 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 3 - - C3ORF14 Ile61Met I61M not reviewed Insufficiently evaluated not reviewed unknown Array rs35261777 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF14 Arg128Stop R128X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C3ORF15 Arg358Lys R358K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C4ORF45 Tyr73His Y73H not reviewed Insufficiently evaluated not reviewed unknown Array rs62351583 171 9510 0.0179811 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF51 Arg419Trp R419W not reviewed Insufficiently evaluated not reviewed unknown Array 10 9552 0.0010469 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF52 Glu366Gly E366G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF45 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array rs79944926 673 10756 0.0625697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C8ORF59 Ala96Val A96V not reviewed Insufficiently evaluated not reviewed unknown Array 4 9442 0.000423639 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF11 Thr245Lys T245K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C9ORF11 Thr274Lys T274K not reviewed Insufficiently evaluated not reviewed unknown Array rs41305329 290 10758 0.0269567 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C9ORF144B Asp1290His D1290H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF61 Pro420Ser P420S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF84 His335Pro H335P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF84 His296Pro H296P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF86 Asp190Asn D190N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10436 0.000191644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CA9 Gln326Arg Q326R not reviewed Insufficiently evaluated not reviewed unknown Array rs3829078 893 10758 0.083008 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 10 - - CACNA1I Glu1082Gly E1082G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNA1I Glu1117Gly E1117G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 6 Y 0 N - - CACNA1I Leu1766Met L1766M not reviewed Insufficiently evaluated not reviewed unknown Array rs56656729 108 9796 0.0110249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CACNA1I Leu1801Met L1801M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 1 N - - CAMTA1 Asn1177Lys N1177K not reviewed Insufficiently evaluated not reviewed unknown Array rs41278952 1081 10758 0.100483 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - CAPN14 Val283Met V283M not reviewed Insufficiently evaluated not reviewed unknown Array 59 3234 0.0182437 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - CAPN8 Glu351Lys E351K not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASC5 Thr1447Ala T1447A not reviewed Insufficiently evaluated not reviewed unknown Array rs16970911 640 9574 0.0668477 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CASC5 Thr1473Ala T1473A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 1 - 0 N - - CASP8AP2 Cys270Trp C270W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - CATSPER1 Arg230His R230H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 1 - 1 N - - CC2D1B His680Tyr H680Y not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.187 - - -1 - 0 N - - CC2D2A Gly727Arg G727R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CC2D2A Gly776Arg G776R pathogenic High clinical importance, Uncertain pathogenic recessive Array 5 9870 0.000506585 1 0 1 0 0 1 Y - - 0 Y 0 Y 5 Y 1 - Y - - - 0.995 Y Y 6 Y 4 N 2 0 Unreported, predicted to be damaging. Other recessive mutations in this gene cause Joubert Syndrome and Meckel Syndrome. CCBL2 Val205Asp V205D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC129 Thr557Pro T557P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC135 Ala709Val A709V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC28B Arg25Trp R25W not reviewed Insufficiently evaluated not reviewed unknown Array rs1407134 378 10758 0.0351366 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 3 - 2 - - CCDC50 Leu121Phe L121F not reviewed Insufficiently evaluated not reviewed unknown Array rs35380043 414 10758 0.038483 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.834 Y - 0 - 2 N - - CCDC81 Met140Val M140V not reviewed Insufficiently evaluated not reviewed unknown Array rs10501615 82 3234 0.0253556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC91 Ser130Phe S130F not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.205 - - 5 Y 1 N - - CCNT1 Thr558Ala T558A not reviewed Insufficiently evaluated not reviewed unknown Array rs61751603 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CCPG1 Ala196Gly A196G not reviewed Insufficiently evaluated not reviewed unknown Array rs117236526 550 9712 0.056631 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CD109 Gly828Glu G828E not reviewed Insufficiently evaluated not reviewed unknown Array rs35466124 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CD109 Gly751Glu G751E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD177 Met237Thr M237T not reviewed Insufficiently evaluated not reviewed unknown Array rs57802244 456 10188 0.0447585 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC14A Val260Met V260M not reviewed Insufficiently evaluated not reviewed unknown Array rs61755295 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CDC27 Gln350Glu Q350E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 0 N - - CDC27 Gln356Glu Q356E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC27 Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - CDC27 Glu87Gln E87Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 1 N - - CDK5RAP3 Glu173Lys E173K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741125 281 10322 0.0272234 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDKN2AIP Cys516Trp C516W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEACAM21 Thr200Ile T200I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10204 0.00137201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 3 - 1 N - - CECR1 Thr65Met T65M not reviewed Insufficiently evaluated not reviewed unknown Array rs61747288 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CENPK Asp52Asn D52N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CENPT Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 9848 0.00203087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP250 His2071Pro H2071P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEP250 His2127Pro H2127P not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - CEP72 Ser226Cys S226C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 3 - 0 N - - CHD1L Thr42Ala T42A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CHD7 Met396Ile M396I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10394 0.000577256 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.08 Y Y -1 - 2 N - - CHIT1 Ala359Gly A359G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.118 Y - 1 - 1 N - - CHIT1 Trp358Stop W358X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CHL1 Thr975Ser T975S not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CILP Val678Met V678M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCNKA Val457Ile V457I not reviewed Insufficiently evaluated not reviewed unknown Array rs35747151 436 10756 0.0405355 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - CLEC17A Leu105Pro L105P not reviewed Insufficiently evaluated not reviewed unknown Array 946 10058 0.0940545 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CLECL1 Pro95Ser P95S not reviewed Insufficiently evaluated not reviewed unknown Array 271 10758 0.0251906 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - CMYA5 Thr1049Ile T1049I not reviewed Insufficiently evaluated not reviewed unknown Array 184 9852 0.0186764 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 3 - 1 N - - CNOT3 His246Pro H246P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - CNTN5 Arg53Stop R53X not reviewed Insufficiently evaluated not reviewed unknown Array rs12292659 2279 9810 0.232314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 - 1 - - COL18A1 Thr1109Ala T1109A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL18A1 Thr1289Ala T1289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL18A1 Thr1524Ala T1524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL27A1 Thr1293Met T1293M not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL6A3 Thr492Ser T492S benign Low clinical importance, Uncertain benign unknown Array 22 10758 0.00204499 1 0 1 1 1 - - - - 1 Y 0 Y - - - - Y - - - - Y Y -2 - 4 Y 0 0 Probably benign. COL6A3 Thr291Ser T291S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Thr286Ser T286S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Asp290His D290H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp491His D491H benign Low clinical importance, Uncertain benign unknown Array 19 10758 0.00176613 1 0 1 1 1 - - - - 1 Y 0 Y - - - - Y - - - - Y Y 3 - 4 Y 0 0 Probably benign. COL6A3 Asp285His D285H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COLEC12 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array rs34395012 224 10756 0.0208256 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - COPB2 Thr848Ile T848I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COPG2 Pro255Thr P255T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPVL Ser11Leu S11L not reviewed Insufficiently evaluated not reviewed unknown Array rs36074676 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR1 Met1434Ile M1434I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR1 Met1884Ile M1884I not reviewed Insufficiently evaluated not reviewed unknown Array 9 9572 0.000940242 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR2 Gly559Glu G559E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CROCC Val1110Met V1110M not reviewed Insufficiently evaluated not reviewed unknown Array rs41272737 598 10620 0.0563089 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.18 - - 0 - 0 N - - CROCC Gly1471Arg G1471R not reviewed Insufficiently evaluated not reviewed unknown Array 611 10758 0.0567949 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CSRP2BP Val457Gly V457G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSRP2BP Val585Gly V585G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - CTR9 Ser943Arg S943R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - CYP2A7 Val347Met V347M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2A7 Val398Met V398M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 1 N - - CYP2W1 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array rs3735684 606 10308 0.0587893 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP3A43 Met275Ile M275I not reviewed Insufficiently evaluated not reviewed unknown Array rs45621431 262 10758 0.024354 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - DBI Met71Val M71V not reviewed Insufficiently evaluated not reviewed unknown Array rs8192506 264 10758 0.0245399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.297 - - 0 - 2 - 10 - - DBI Met72Val M72V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - DBI Met88Val M88V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 0 - 3 N 10 - - DCC Ser1178Cys S1178C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 3 - 2 N - - DCHS1 Val1741Gly V1741G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - DCST2 Leu336Phe L336F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX4 Ser170Arg S170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX4 Ser204Arg S204R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - DDX4 Ile253Val I253V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DDX4 Ile287Val I287V not reviewed Insufficiently evaluated not reviewed unknown Array rs2305123 1020 10758 0.0948132 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - DDX60L Arg1387Gln R1387Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740720 377 9644 0.0390917 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND1A Val179Gly V179G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - DEPDC5 Phe685Leu F685L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731667 142 10006 0.0141915 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - DHRS12 Gln56Lys Q56K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729904 855 10758 0.0794757 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DHX38 Thr492Met T492M not reviewed Insufficiently evaluated not reviewed unknown Array rs36064538 44 10322 0.00426274 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.039 - - 2 - 0 N - - DIO1 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 1 - 2 N - - DIO1 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIO1 Ala162Thr A162T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIS3 Val264Gly V264G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DIS3 Val294Gly V294G not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - DISP2 Leu1361Phe L1361F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLG4 Thr281Pro T281P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DLG4 Thr327Pro T327P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DLG5 Pro1089Leu P1089L not reviewed Insufficiently evaluated not reviewed unknown Array rs41274586 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.354 - - 7 Y 1 N - - DMBT1 Gly253Ser G253S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10098 0.000594177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.837 - - 2 - 2 - 1 - - DMXL1 Met1589Val M1589V not reviewed Insufficiently evaluated not reviewed unknown Array rs116379331 158 10756 0.0146895 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - DNAH6 Val2550Ala V2550A not reviewed Insufficiently evaluated not reviewed unknown Array 509 3234 0.15739 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DNAH6 Gly2833Ala G2833A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - DNAH9 Arg2805His R2805H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740362 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAI1 Lys184Arg K184R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.035 Y Y -3 - 2 N - - DNHD1 Arg387Gln R387Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - DOCK1 Ser1756Leu S1756L not reviewed Insufficiently evaluated not reviewed unknown Array rs41314432 60 10154 0.005909 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - DOHH Phe205Ser F205S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - DSC3 Arg27Ser R27S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - DSCR4 Pro40Ser P40S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731605 244 10758 0.0226808 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 3 - 2 N - - DST Thr2067Ile T2067I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Ile2589Val I2589V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DUS1L Thr365Met T365M not reviewed Insufficiently evaluated not reviewed unknown Array 80 10756 0.00743771 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DYNC2H1 Gln304Leu Q304L benign Low clinical importance, Uncertain benign unknown Array rs12146610 473 9770 0.0484135 5 0 5 0 0 ! Y - - 2 Y - - - - - - - - - - 0.854 - - 5 Y 3 - 3 0 0 Presumed benign. E2F3 Thr67Pro T67P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 4 Y 1 N - - EFCAB2 Val36Gly V36G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EML3 Ser163Pro S163P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - ENTPD4 Tyr427Phe Y427F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ENTPD4 Tyr435Phe Y435F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -4 - 0 N - - EP400 Thr2215Pro T2215P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPHA1 Pro683Leu P683L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPHA3 Arg914His R914H not reviewed Insufficiently evaluated not reviewed unknown Array rs17801309 724 10758 0.0672988 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EPHA5 Cys603Trp C603W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - EPHA8 Arg375His R375H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Arg2215Cys R2215C not reviewed Insufficiently evaluated not reviewed unknown Array 1176 10178 0.115543 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EPPK1 Val1864Ile V1864I not reviewed Insufficiently evaluated not reviewed unknown Array 118 10412 0.0113331 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EPS15 Ser467Arg S467R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 3 - 0 N - - EPS15 Ser153Arg S153R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ESCO1 Glu181Lys E181K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - ETV3L Met318Val M318V not reviewed Insufficiently evaluated not reviewed unknown Array rs12126791 420 10756 0.039048 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.761 - - 0 - 2 - 2 - - EXO1 Phe483Cys F483C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - EYS Trp1837Ser W1837S not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - EYS Leu1748Phe L1748F not reviewed Insufficiently evaluated not reviewed unknown Array rs57312007 391 3232 0.120978 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - EZH2 Ile55Met I55M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - F2RL3 Val288Ala V288A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - FAM135A His133Pro H133P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM135A His176Pro H176P not reviewed Insufficiently evaluated not reviewed unknown Array 3439 10758 0.319669 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - FAM135A Ser166Asn S166N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM135A Ser209Asn S209N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741206 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - FAM21C Tyr521Ser Y521S not reviewed Insufficiently evaluated not reviewed unknown Array 492 9136 0.0538529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 1 - - FAM36A Leu106Phe L106F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FAM55C His423Gln H423Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35598292 356 10758 0.0330917 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.165 - - -1 - 0 N - - FAM64A Ser129Asn S129N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM71C Val74Ile V74I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - FARP1 His644Tyr H644Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61730892 346 10758 0.0321621 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - FAT1 Val129Leu V129L not reviewed Insufficiently evaluated not reviewed unknown Array rs41278611 328 10236 0.0320438 4 0 5 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - FAT2 Gln3953His Q3953H not reviewed Insufficiently evaluated not reviewed unknown Array rs2304029 503 10758 0.0467559 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 7 - - FAT2 Val444Ala V444A not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - FBN1 Val645Gly V645G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FBN3 Arg2008Cys R2008C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBXW12 Met167Val M167V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXW12 Met186Val M186V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - FCGBP His1139Pro H1139P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - FETUB Val379Ala V379A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 0 N - - FEZ2 Thr111Ala T111A not reviewed Insufficiently evaluated not reviewed unknown Array rs35730082 3 9704 0.00030915 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ23834 Cys529Tyr C529Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - FLT4 Pro641Ser P641S not reviewed Insufficiently evaluated not reviewed unknown Array rs55667289 42 10744 0.00390916 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.742 Y Y 3 - 4 - 8 - - FMO5 Gln391Arg Q391R not reviewed Insufficiently evaluated not reviewed unknown Array rs56134376 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FNBP4 Ile819Val I819V not reviewed Insufficiently evaluated not reviewed unknown Array rs34242224 630 9724 0.0647882 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FNDC7 Ile146Val I146V not reviewed Insufficiently evaluated not reviewed unknown Array 187 3234 0.0578231 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 2 - - FOXJ3 Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.822 - - -4 - 1 N - - FREM1 Asp1273Glu D1273E not reviewed Insufficiently evaluated not reviewed unknown Array rs7025814 544 9666 0.0562797 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 - 3 - - FRG1 Lys66Glu K66E not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRG2B Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 50 0.06 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 0 N - - FRG2B Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 28 0.107143 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 0 N - - FRG2C Ala196Thr A196T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - FRMD4B Ala541Gly A541G not reviewed Insufficiently evaluated not reviewed unknown Array 51 9566 0.00533138 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FUK Ser810Leu S810L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10394 0.000481046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - FZD4 Pro168Ser P168S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735303 175 10758 0.016267 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.186 Y Y 3 - 3 - 10 - - GALC Leu400Pro L400P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GALNT5 Pro892Ser P892S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - GALNTL2 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array rs11715981 426 10752 0.0396205 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 1 - 5 - - GBGT1 Tyr121Stop Y121X not reviewed Insufficiently evaluated not reviewed unknown Array rs35898523 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - GCDH Val416Ile V416I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GEMIN5 Arg319Gly R319G not reviewed Insufficiently evaluated not reviewed unknown Array rs35522740 220 10758 0.0204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - GFM1 Val652Gly V652G not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 8 Y 3 N - - GGCX Pro579Thr P579T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - GGCX Pro636Thr P636T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733105 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 3 N - - GIGYF1 Val99Gly V99G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 8 Y 1 N - - GJB4 Thr181Met T181M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 2 - 3 N - - GLRX5 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array rs11628901 1246 10758 0.115821 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.146 - - 1 - 1 - 2 - - GLT8D3 Lys409Arg K409R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GLT8D3 Lys440Arg K440R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GLT8D3 Cys383Tyr C383Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLT8D3 Cys414Tyr C414Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLT8D3 Cys383Arg C383R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLT8D3 Cys414Arg C414R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLT8D3 Asp122Val D122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLT8D3 Asp153Val D153V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLT8D4 Asn119Ser N119S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGB1 Ala2670Thr A2670T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPRC5D Ala18Asp A18D not reviewed Insufficiently evaluated not reviewed unknown Array rs3741822 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 5 - - GPRC6A Arg57Stop R57X not reviewed Insufficiently evaluated not reviewed unknown Array rs6907580 738 10758 0.0686001 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - GPX2 Pro126Leu P126L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 8 - - GREB1 Pro790Leu P790L not reviewed Insufficiently evaluated not reviewed unknown Array 297 9990 0.0297297 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - GRIA4 Leu781Ser L781S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTF3C4 His323Tyr H323Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HAND1 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - HAUS3 Val305Gly V305G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - HDAC11 Pro292His P292H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HDAC11 Pro343His P343H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HEATR4 Arg712Cys R712C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - HEATR7B2 Arg330Gln R330Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61609768 158 9662 0.0163527 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - HECTD3 Ala81Pro A81P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - HELB Asp506Gly D506G not reviewed Insufficiently evaluated not reviewed unknown Array 296 10758 0.0275144 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - HERC2 Gly1198Val G1198V not reviewed Insufficiently evaluated not reviewed unknown Array 807 10752 0.0750558 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 8 Y 0 N - - HIST1H2AH Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs36043209 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HIST1H2BI Pro4Thr P4T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DQB1 Leu28Pro L28P not reviewed Insufficiently evaluated not reviewed unknown Array 4591 9752 0.470775 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 9 - - HTR5A Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array rs11575874 470 10758 0.0436884 8 0 8 1 1 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - HYDIN Arg1951Gln R1951Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17321570 162 9272 0.017472 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.269 - - 0 - 2 - 3 - - HYDIN Arg1585His R1585H not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - IAH1 Leu43Val L43V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732203 186 9970 0.018656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - IFT140 Trp961Gly W961G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IFT140 Trp960Gly W960G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IGSF10 Glu1602Lys E1602K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - IK Val458Gly V458G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - IL16 Glu1030Val E1030V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IL16 Glu329Val E329V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IL1RL2 Pro538Ser P538S not reviewed Insufficiently evaluated not reviewed unknown Array rs34599745 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - INSL5 Arg27Ser R27S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IRAK2 Arg214Gly R214G not reviewed Insufficiently evaluated not reviewed unknown Array rs35060588 480 10758 0.044618 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 1 - 4 - - ITGA4 Gly46Arg G46R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ITGA7 Ile672Val I672V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGA7 Ile765Val I765V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGA7 Ile769Val I769V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGAL Val518Gly V518G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGAL Val601Gly V601G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - ITGB4 Arg515His R515H not reviewed Insufficiently evaluated not reviewed unknown Array rs61735297 142 10758 0.0131995 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 1 - 3 - 2 - - JAG1 Asn1110Thr N1110T benign Low clinical importance, Uncertain benign unknown Array 2 10758 0.000185908 1 0 1 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.995 Y Y 1 - 4 N 0 0 Tentatively presumed benign because seen in a healthy PGP participant. A damaging effect to the gene is predicted by Polyphen 2. Other damaging variants are reported to cause Alagille syndrome in a dominant manner. JAK1 Lys860Asn K860N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JARID2 Pro490Leu P490L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - JPH1 Gln549Arg Q549R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - KBTBD8 Phe179Leu F179L not reviewed Insufficiently evaluated not reviewed unknown Array rs75804175 501 10758 0.04657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - KCNB2 His688Arg H688R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - KIAA0174 Leu315Pro L315P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0415 Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array 173 9722 0.0177947 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 1 N - - KIAA0556 Arg1368Gln R1368Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11644502 487 10758 0.0452686 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0574 Gly228Ser G228S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - KIAA0753 Ile926Met I926M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735435 178 9732 0.0182902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0774 Thr957Met T957M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1257 Ala142Ser A142S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10628 0.00395183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - -1 - 1 N - - KIAA1328 Ser8Pro S8P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1328 Gly349Val G349V not reviewed Insufficiently evaluated not reviewed unknown Array rs72890602 6 126 0.047619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1671 Arg566Trp R566W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - KIAA1755 Thr524Ile T524I not reviewed Insufficiently evaluated not reviewed unknown Array rs11699859 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 3 - 0 N - - KIAA1772 Cys186Trp C186W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF14 Met458Val M458V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIF16B Ile665Val I665V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - KIF20A Pro839Leu P839L not reviewed Insufficiently evaluated not reviewed unknown Array rs3172747 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 2 - - KIR2DS4 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIR3DL1 Arg52His R52H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR3DL1 Arg65Gly R65G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR3DL1 Ser107Leu S107L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR3DL1 Cys364Tyr C364Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL20 Val455Gly V455G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KLK12 Gly2Glu G2E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 1 - - KNCN Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array rs61997191 385 10224 0.0376565 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRT13 Arg355Cys R355C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - KRT14 Arg388His R388H pathogenic Low clinical importance, pathogenic other Array 2 10758 0.000185908 0 0 0 2 2 3 Y 1 Y 4 Y 0 Y 2 Y 1 Y Y - - - 0.999 Y Y 1 - Epidermolysis Bullosa Simplex, Weber-Cockayne Type 6 225 31 200 0.172 5 - 3 0 2 The heterozygous variant R388H has shown to be both phenotypically silent (heterozygous father of two affected heterozygous children), and causative of Weber Cockayne Epidermolysis Bullosa Simplex (WC-EBS). R388H heterozygosity when combined with Q396X heterozygosity (causative of KRT14 haploinsufficiency) is also associated with WC-EBS. In this specific case, is thought that the presence of a normal KRT14 allele is enough to maintain the normal phenotype. The R388H variant is different from its related mutation R388C, which has confidently been proven a causative mutation that leads to WC-EBS. KRT18 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - KRTAP10-8 Cys134Gly C134G not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP22-1 Tyr29Cys Y29C not reviewed Insufficiently evaluated not reviewed unknown Array rs724849 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - KRTAP5-3 Ser223Phe S223F not reviewed Insufficiently evaluated not reviewed unknown Array 981 10758 0.091188 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LACE1 Gln386Glu Q386E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - -2 - 0 N - - LAMB4 Ser983Thr S983T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - -2 - 2 N - - LAMC3 Pro689Leu P689L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LAMC3 Asn743Asp N743D not reviewed Insufficiently evaluated not reviewed unknown Array rs36030184 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LARP2 Thr505Pro T505P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LARS Val840Gly V840G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LATS1 Ala898Val A898V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - 2 - 1 N - - LBA1 Gly8Ser G8S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - LCE1B Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array rs56056379 229 10748 0.0213063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LCOR Arg301Lys R301K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LGR4 Gly363Cys G363C not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRA6 Met117Thr M117T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LIMCH1 Pro767Ser P767S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Pro779Ser P779S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Pro933Ser P933S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Pro934Ser P934S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - LINGO2 Thr59Ile T59I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - LINS1 Ser140Thr S140T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LMNB1 Val45Gly V45G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 8 Y 1 N - - LOC285679 Arg253His R253H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC286238 Pro50His P50H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC400713 Lys356Glu K356E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC440563 Asn273Asp N273D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC440563 Asn272Asp N272D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC440563 Glu245Asp E245D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC650293 Ile150Thr I150T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC650293 Asp180Asn D180N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOXHD1 Cys1344Phe C1344F not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOXHD1 Cys233Phe C233F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRIG2 Asp755Glu D755E not reviewed Insufficiently evaluated not reviewed unknown Array rs41296184 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.366 - - -2 - 1 N - - LRPAP1 Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array rs11549516 376 10758 0.0349507 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.087 - - 1 - 0 N - - LRRIQ1 Gly1141Asp G1141D not reviewed Insufficiently evaluated not reviewed unknown Array rs61738629 261 10758 0.024261 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LYST Glu2161Ala E2161A not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.215 Y Y 3 - 3 N - - MACROD2 Cys123Trp C123W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MAL2 Arg73Cys R73C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAP4K4 Glu741Lys E741K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP4K4 Glu795Lys E795K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP4K4 Glu903Lys E903K not reviewed Insufficiently evaluated not reviewed unknown Array 4 9950 0.00040201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP6 Val693Gly V693G not reviewed Insufficiently evaluated not reviewed unknown Array rs61895095 414 10758 0.038483 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAPK15 Arg260Trp R260W not reviewed Insufficiently evaluated not reviewed unknown Array rs35925379 15 10734 0.00139743 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - MAPK15 Thr381Pro T381P not reviewed Insufficiently evaluated not reviewed unknown Array rs56241827 5 9976 0.000501202 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - MASTL Val873Ile V873I not reviewed Insufficiently evaluated not reviewed unknown Array rs10741130 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - MCL1 Met231Leu M231L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -3 - 2 N - - MCM3 Phe287Leu F287L not reviewed Insufficiently evaluated not reviewed unknown Array rs2307328 126 10758 0.0117122 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 1 - 5 - - MCM5 Val711Ala V711A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10386 0.00028885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - MCPH1 Arg304Ile R304I not reviewed Insufficiently evaluated not reviewed unknown Array rs2083914 1126 9582 0.117512 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 7 Y 2 N - - MED13 Leu246Trp L246W not reviewed Insufficiently evaluated not reviewed unknown Array 38 9660 0.00393375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MED24 Thr287Met T287M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MED24 Thr300Met T300M not reviewed Insufficiently evaluated not reviewed unknown Array rs61756232 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 2 - 2 N - - MEFV Gly304Arg G304R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 6 Y 3 - 5 - - METAP1 Gln31Stop Q31X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MGST2 Tyr93His Y93H not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - MMP12 Ile357Val I357V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - MMP25 Glu200Gly E200G not reviewed Insufficiently evaluated not reviewed unknown Array rs61753772 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 6 Y 1 N - - MMRN1 Arg1227Leu R1227L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10752 0.00520833 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MRPL1 Asp229His D229H not reviewed Insufficiently evaluated not reviewed unknown Array rs1801350 453 10748 0.0421474 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.149 - - 3 - 1 - 2 - - MRPL38 Asp276Ala D276A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.081 - - 5 Y 0 N - - MRPS27 Pro253Ser P253S not reviewed Insufficiently evaluated not reviewed unknown Array rs114360965 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSH6 Val509Ala V509A benign Low clinical importance, Uncertain benign undefined Array rs63751005 10 10758 0.00092954 1 0 1 4 4 ! Y - - 1 Y 0 Y - - - - Y - - - 0.988 Y Y 2 - 5 - 5 0 0 Despite being predicted to have a damaging effect on a mismatch repair gene, this variant has shown no significant association with cancers (endometrial & colorectal, which are associated with mutations in this gene). It is probably benign; if it has any pathogenic effect it is weak. MSL2 Ser466Asn S466N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSL2 Ser540Asn S540N not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - MST1R Arg309Gln R309Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MTERFD2 Thr45Ala T45A not reviewed Insufficiently evaluated not reviewed unknown Array rs3796093 17 126 0.134921 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 1 N - - MTHFS Glu198Lys E198K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 0 - 0 N - - MTHFSD Leu25Val L25V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MTHFSD Leu44Val L44V not reviewed Insufficiently evaluated not reviewed unknown Array rs34005514 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - MTHFSD Leu45Val L45V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MUC17 Val1715Ile V1715I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC2 Ile1814Thr I1814T not reviewed Insufficiently evaluated not reviewed unknown Array 391 10676 0.0366242 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Asp399Ala D399A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC20 Asp434Ala D434A not reviewed Insufficiently evaluated not reviewed unknown Array 436 10332 0.042199 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Ala4114Pro A4114P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MUC4 Val4105Ala V4105A not reviewed Insufficiently evaluated not reviewed unknown Array 121 10338 0.0117044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MUC4 Ile3717Ser I3717S not reviewed Insufficiently evaluated not reviewed unknown Array 191 2240 0.0852679 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC4 Gln3565His Q3565H not reviewed Insufficiently evaluated not reviewed unknown Array 1733 3172 0.546343 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Ser3320Leu S3320L not reviewed Insufficiently evaluated not reviewed unknown Array 533 3188 0.167189 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC4 Ala3008Pro A3008P not reviewed Insufficiently evaluated not reviewed unknown Array 18 3112 0.00578406 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MUC4 His2717Asp H2717D not reviewed Insufficiently evaluated not reviewed unknown Array 140 3208 0.0436409 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Phe2698Ser F2698S not reviewed Insufficiently evaluated not reviewed unknown Array 292 3092 0.0944373 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC4 His2669Asp H2669D not reviewed Insufficiently evaluated not reviewed unknown Array 56 3102 0.0180529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Tyr2599Ser Y2599S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Ala2569Val A2569V not reviewed Insufficiently evaluated not reviewed unknown Array 1330 3190 0.416928 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Ala2568Ser A2568S not reviewed Insufficiently evaluated not reviewed unknown Array rs62282480 1564 3186 0.490898 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Thr2470Ala T2470A not reviewed Insufficiently evaluated not reviewed unknown Array 270 3196 0.0844806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Thr2254Ser T2254S not reviewed Insufficiently evaluated not reviewed unknown Array 367 3206 0.114473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC4 Ile2223Thr I2223T not reviewed Insufficiently evaluated not reviewed unknown Array 155 3178 0.0487728 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Val1145Ala V1145A not reviewed Insufficiently evaluated not reviewed unknown Array 1250 3038 0.411455 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Thr3847Pro T3847P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC5B Thr3267Pro T3267P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC6 Pro2063Thr P2063T not reviewed Insufficiently evaluated not reviewed unknown Array 141 10704 0.0131726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC6 Thr1822Ala T1822A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Pro1613Leu P1613L not reviewed Insufficiently evaluated not reviewed unknown Array 3217 10702 0.300598 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC6 Gly1581Glu G1581E not reviewed Insufficiently evaluated not reviewed unknown Array 383 10588 0.036173 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 Pro1569Leu P1569L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC6 Pro1449Ser P1449S not reviewed Insufficiently evaluated not reviewed unknown Array 3904 10720 0.364179 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC7 Thr137Pro T137P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUTYH Ser515Phe S515F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.239 Y - 5 Y 3 - 2 - - MUTYH Ser512Phe S512F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - 5 Y 2 - 2 - - MUTYH Ser488Phe S488F not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - MUTYH Ser501Phe S501F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 - 10 - - MUTYH Ser487Phe S487F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - MXD3 Ile189Thr I189T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBPC1 Pro461Gln P461Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYBPC1 Pro486Gln P486Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYBPC3 Ser236Gly S236G benign Insufficiently evaluated benign unknown Array rs3729989 1050 10290 0.102041 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 10 - - Cardiogenomics database lists this as a benign polymorphism. MYCBPAP Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYCBPAP Gly165Ser G165S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH13 Gly701Arg G701R not reviewed Insufficiently evaluated not reviewed unknown Array rs2240579 113 9612 0.0117561 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 3 - 5 - - MYH14 Met161Ile M161I not reviewed Insufficiently evaluated not reviewed unknown Array rs34773557 162 10650 0.0152113 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MYLIP Ile202Leu I202L not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - MYO10 Ser1520Leu S1520L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744227 79 9782 0.00807606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYO10 Met903Thr M903T not reviewed Insufficiently evaluated not reviewed unknown Array 76 10480 0.00725191 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - N4BP2 Glu861Val E861V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748748 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 3 - 1 - - NAAA Thr223Ile T223I not reviewed Insufficiently evaluated not reviewed unknown Array rs61735953 380 10078 0.0377059 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.256 - - 3 - 1 N - - NAT8B Val119Leu V119L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAV2 Ser236Pro S236P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAV2 Ser300Pro S300P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBPF14 Ile861Arg I861R not reviewed Insufficiently evaluated not reviewed unknown Array 503 10142 0.0495957 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF7 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - NCAM1 Ala579Thr A579T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCAM1 Ala589Thr A589T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCAPD3 Arg622Gln R622Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12292394 430 10758 0.0399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 3 - - NCOR2 Pro1992Ser P1992S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - NCOR2 Pro2008Ser P2008S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230944 371 9970 0.0372116 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - NCOR2 Ala1991Thr A1991T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - NCOR2 Ala2007Thr A2007T not reviewed Insufficiently evaluated not reviewed unknown Array rs2227277 359 9968 0.0360152 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - NDFIP2 Ala136Val A136V not reviewed Insufficiently evaluated not reviewed unknown Array rs11549502 1142 10758 0.106154 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NEDD9 Tyr223Cys Y223C not reviewed Insufficiently evaluated not reviewed unknown Array rs34044517 165 10748 0.0153517 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.293 - - 6 Y 1 N - - NEK8 Glu633Lys E633K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.536 - - 0 - 1 N - - NEUROD2 Thr200Pro T200P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - NFE2L2 Leu286Phe L286F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFE2L2 Leu293Phe L293F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFE2L2 Leu309Phe L309F not reviewed Insufficiently evaluated not reviewed unknown Array 32 10456 0.00306044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - NFE2L3 Ser473Thr S473T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - -2 - 1 N - - NKX3-1 Arg52Cys R52C not reviewed Insufficiently evaluated not reviewed unknown Array 313 10108 0.0309656 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.788 - - 8 Y 2 - 10 - - NOL6 Ser587Leu S587L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NOP2 Arg247Pro R247P not reviewed Insufficiently evaluated not reviewed unknown Array 5 9938 0.000503119 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NOS3 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array rs61761725 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - NPC1L1 Asp517Asn D517N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NPSR1 Gly369Asp G369D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRP2 Arg334Cys R334C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - NSUN2 Thr288Ala T288A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - NUAK1 His515Pro H515P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NUDT13 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array rs34633105 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 3 - 1 - - NUP214 Thr1283Ile T1283I not reviewed Insufficiently evaluated not reviewed unknown Array rs34991189 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NXNL1 Glu31Asp E31D not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - -2 - 0 N - - OBP2B Val167Ile V167I not reviewed Insufficiently evaluated not reviewed unknown Array rs11244035 821 10758 0.0763153 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 1 - 6 - - OBSCN Arg2823Ile R2823I not reviewed Insufficiently evaluated not reviewed unknown Array 52 9806 0.00530287 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 3 - 2 - - OBSL1 Pro1251Leu P1251L not reviewed Insufficiently evaluated not reviewed unknown Array 100 9818 0.0101854 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OIT3 Cys105Phe C105F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - OR10G9 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OR10H4 Thr252Met T252M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10T2 Val289Ile V289I not reviewed Insufficiently evaluated not reviewed unknown Array rs61818748 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.96 - - -4 - 2 N - - OR1D2 Thr134Pro T134P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 4 Y 2 N - - OR1D4 Leu268Phe L268F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1D5 Leu250Phe L250F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1F1 Thr240Ala T240A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - OR2T1 Ile127Val I127V not reviewed Insufficiently evaluated not reviewed unknown Array rs41269351 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.617 - - -4 - 2 - 2 - - OR2T33 Val245Gly V245G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - OR4C3 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array 9 120 0.075 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR4D1 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12602205 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51B6 Thr191Asn T191N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR52E2 Val226Ala V226A not reviewed Insufficiently evaluated not reviewed unknown Array rs72873928 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.777 - - 2 - 1 N - - OR5D13 Val36Ile V36I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR5F1 Ala108Glu A108E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 3 - 1 N - - OR5K1 Arg54Trp R54W not reviewed Insufficiently evaluated not reviewed unknown Array 235 10756 0.0218483 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR8D1 Val248Gly V248G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - OR8U1 Ser54Asn S54N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8U1 Leu131Met L131M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR8U8 Ser54Asn S54N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR8U8 Leu131Met L131M not reviewed Insufficiently evaluated not reviewed unknown Array rs74711788 50 124 0.403226 43 0 43 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - OTOF Ala1083Pro A1083P not reviewed Insufficiently evaluated not reviewed unknown Array 197 10754 0.0183188 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - OTOF Ala336Pro A336P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - OTOF Ala393Pro A393P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - OTOF Arg132Trp R132W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - OTOF Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 9 - - OTOF Arg822Trp R822W benign Low clinical importance, Uncertain benign undefined Array 193 10682 0.0180678 0 0 0 2 2 ! Y - - 4 Y - - - - - - Y - - - 0.914 Y Y 7 Y 4 N 0 0 Rare variant, reported as a polymorphism also found in controls. Other severe variants in this gene are reported to cause autosomal recessive non-syndromic deafness. OVCH2 Pro389Leu P389L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - OXER1 Thr128Met T128M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - PABPC1 Tyr423Ser Y423S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - PABPC1 Tyr423His Y423H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PABPC1 Pro402Leu P402L not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 7 Y 1 N - - PANK3 Ile301Phe I301F not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.391 - - 2 - 1 N - - PAPOLB Leu296Ile L296I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAPSS1 Arg111Stop R111X not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PARP16 Leu72His L72H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - PCBP3 Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.455 - - 0 - 1 N - - PCCA Ala284Val A284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PCCA Ala310Val A310V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PCDHB1 Asp596Gly D596G not reviewed Insufficiently evaluated not reviewed unknown Array rs2233593 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - PCDHB2 Gly760Asp G760D not reviewed Insufficiently evaluated not reviewed unknown Array 1975 10686 0.184821 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 1 - 4 - - PCM1 Asn455Ser N455S not reviewed Insufficiently evaluated not reviewed unknown Array 10 9844 0.00101585 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.902 - - 0 - 2 N - - PCNT Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735822 474 10758 0.0440602 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.042 - - -4 - 0 N - - PCNT Ala1194Thr A1194T not reviewed Insufficiently evaluated not reviewed unknown Array rs35044802 461 10754 0.0428678 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.078 - - 1 - 0 N - - PCNT Ser2326Asn S2326N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.078 - - 0 - 0 N - - PCNX Thr471Ser T471S not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDGFRB Val722Phe V722F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - PDHX Val352Gly V352G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDHX Val367Gly V367G not reviewed Insufficiently evaluated not reviewed unknown Array 262 10758 0.024354 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PDZRN4 Ala315Glu A315E not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PELP1 Pro507Leu P507L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10018 0.000499101 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 7 Y 0 N - - PEX10 Thr294Ala T294A not reviewed Insufficiently evaluated not reviewed unknown Array rs34154371 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PEX10 Thr274Ala T274A not reviewed Insufficiently evaluated not reviewed unknown Array 219 10754 0.0203645 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.221 Y Y 1 - 3 N - - PFAS Phe481Tyr F481Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35217368 565 10758 0.0525191 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 3 - - PFN4 Arg72Ser R72S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PGD Ala271Thr A271T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.346 - - 1 - 1 N - - PHC1 Arg911His R911H not reviewed Insufficiently evaluated not reviewed unknown Array rs62625019 838 10708 0.0782592 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PHF21B Gly127Ser G127S not reviewed Insufficiently evaluated not reviewed unknown Array rs8135982 893 10734 0.0831936 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - PHKB Met178Ile M178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PHKB Met185Ile M185I pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs56257827 113 10750 0.0105116 1 0 1 0 0 2 Y - - 0 Y 0 Y 3 Y 3 Y Y - - - 0.997 Y - -1 - Glycogen Storage Disease TypeIX 1 31 0 0 - 4 - 1 1 0 Reported to cause glycogen storage disease type IX in a recessive manner, but insufficient data is reported to establish significance. PHTF2 Arg327Lys R327K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PHTF2 Arg323Lys R323K not reviewed Insufficiently evaluated not reviewed unknown Array 46 9608 0.00478768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PIGM Asn384Asp N384D not reviewed Insufficiently evaluated not reviewed unknown Array rs61747491 525 10758 0.0488009 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.632 - - -1 - 1 N - - PIGN Lys162Glu K162E not reviewed Insufficiently evaluated not reviewed unknown Array rs17069506 476 9534 0.0499266 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3C2G Val1290Gly V1290G not reviewed Insufficiently evaluated not reviewed unknown Array rs12099555 864 9470 0.0912355 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 - 4 - - PITRM1 Ile952Met I952M not reviewed Insufficiently evaluated not reviewed unknown Array rs2279219 71 9942 0.00714142 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.476 - - -1 - 2 - 2 - - PIWIL3 Val641Met V641M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 1 N - - PKHD1L1 Met265Thr M265T not reviewed Insufficiently evaluated not reviewed unknown Array 107 9366 0.0114243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - PKP2 Thr338Ala T338A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 2 0 2 1 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - PLA2G3 His89Gln H89Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55984643 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.176 - - -1 - 0 N - - PLA2G4C Arg148Gly R148G not reviewed Insufficiently evaluated not reviewed unknown Array rs2307282 430 10758 0.0399703 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLA2G4C Arg158Gly R158G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHH1 Val1001Met V1001M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10442 9.5767e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - PLXDC2 Val320Gly V320G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - PLXNA4 Arg28Trp R28W not reviewed Insufficiently evaluated not reviewed unknown Array 253 10756 0.0235218 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.692 - - 7 Y 1 N - - POLE3 Ser116Pro S116P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - POLQ Leu623His L623H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR3C Thr347Pro T347P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 4 Y 0 N - - PPP1R1B Ala15Asp A15D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - PPP1R1B Ala51Asp A51D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 5 Y 0 N - - PRAMEF1 Arg334Cys R334C not reviewed Insufficiently evaluated not reviewed unknown Array 453 10754 0.0421239 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 8 Y 2 N - - PRB4 Pro50Thr P50T not reviewed Insufficiently evaluated not reviewed unknown Array 176 10718 0.016421 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - PRCP Thr64Ala T64A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10750 0.00316279 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PRCP Thr85Ala T85A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM6 Ala230Pro A230P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 2 - 1 N - - PRDM9 Cys208Tyr C208Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRKD3 Asn308Thr N308T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - PRPF40B Arg262Ser R262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRPF40B Arg268Ser R268S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - PRR11 Leu295Met L295M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.492 - - -3 - 1 N - - PRSS21 Pro184Ser P184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRSS21 Pro186Ser P186S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - PRSS36 Ala727Gly A727G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSD3 Gly282Ala G282A not reviewed Insufficiently evaluated not reviewed unknown Array 668 9950 0.0671357 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.529 - - 1 - 0 N - - PSG5 Arg220Trp R220W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 1 - - PSMB11 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10224 0.00117371 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 8 Y 0 N - - PTPRN Gln666His Q666H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.598 - - -1 - 1 N - - PYGO1 Arg405His R405H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - RAB11FIP4 Glu501Lys E501K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - RAB6C Ser214Tyr S214Y not reviewed Insufficiently evaluated not reviewed unknown Array 716 9878 0.0724843 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RADIL Val838Met V838M not reviewed Insufficiently evaluated not reviewed unknown Array 119 8688 0.0136971 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RADIL Asn790Ser N790S not reviewed Insufficiently evaluated not reviewed unknown Array 134 9874 0.013571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RADIL Gly309Arg G309R not reviewed Insufficiently evaluated not reviewed unknown Array 144 10002 0.0143971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RARS Val376Glu V376E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - RARS2 Lys291Arg K291R not reviewed Insufficiently evaluated not reviewed unknown Array rs17850652 1015 10750 0.0944186 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 1 N - - RASAL2 Val1060Gly V1060G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RASAL2 Val1201Gly V1201G not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RASSF9 Glu424Lys E424K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9972 0.00010028 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - RBM11 Asp196Asn D196N not reviewed Insufficiently evaluated not reviewed unknown Array 122 10010 0.0121878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBM14 Leu95Gln L95Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - REG3A Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - RELB Thr448Met T448M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - RFX7 Gly420Ser G420S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10200 9.8039e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS12 Asn1124Ser N1124S not reviewed Insufficiently evaluated not reviewed unknown Array rs2269497 306 10758 0.0284439 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - RGS12 Asn476Ser N476S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - RGS2 Gln2Arg Q2R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 10 - - RHBG Thr250Met T250M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10144 0.00256309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIBC2 Ala49Ser A49S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - -1 - 1 N - - RINT1 Pro759Leu P759L not reviewed Insufficiently evaluated not reviewed unknown Array rs34310648 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 1 - 1 - - RNASE13 Ala150Val A150V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF43 Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array rs34523089 1246 10730 0.116123 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 - 3 - - ROBO1 Pro1088Leu P1088L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ROBO1 Pro1143Leu P1143L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ROBO1 Pro1149Leu P1149L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ROBO1 Pro1188Leu P1188L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10342 0.000676851 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ROBO3 Ala1062Thr A1062T not reviewed Insufficiently evaluated not reviewed unknown Array 291 9838 0.0295792 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 1 - 2 - 1 - - ROS1 Val1557Ile V1557I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - RP1L1 Gly183Ser G183S not reviewed Insufficiently evaluated not reviewed unknown Array 137 9894 0.0138468 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - RPP38 Ile212Thr I212T not reviewed Insufficiently evaluated not reviewed unknown Array rs10242 228 10758 0.0211935 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - RPTN Asp455His D455H not reviewed Insufficiently evaluated not reviewed unknown Array 216 7820 0.0276215 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - RRP12 Arg520Gln R520Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - RRP12 Arg581Gln R581Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 1 - 1 - - RSPH1 Gly248Arg G248R not reviewed Insufficiently evaluated not reviewed unknown Array 1449 10758 0.13469 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.113 - - 6 Y 0 N - - RUSC2 Ser213Arg S213R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 3 - 1 N - - S1PR5 Leu318Gln L318Q not reviewed Insufficiently evaluated not reviewed unknown Array 259 10754 0.0240841 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.106 - - 5 Y 1 - 2 - - SALL1 Val127Leu V127L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SALL1 Val30Leu V30L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SAMD9L Val266Ile V266I not reviewed Insufficiently evaluated not reviewed unknown Array rs10488532 1113 10756 0.103477 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SC5DL Lys64Asn K64N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.207 Y - 1 - 2 N - - SCAF1 Lys1231Arg K1231R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743199 529 10758 0.0491727 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCG2 Pro564Leu P564L not reviewed Insufficiently evaluated not reviewed unknown Array rs36043001 196 10758 0.018219 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCN10A Arg1869Cys R1869C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SCNM1 Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - SDK2 Arg547Leu R547L not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SDR16C6 Leu63Stop L63X not reviewed Insufficiently evaluated not reviewed unknown Array 75 3234 0.0231911 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SDR39U1 Phe129Ile F129I not reviewed Insufficiently evaluated not reviewed unknown Array rs11538184 158 10054 0.0157151 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDS Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SEC14L3 Arg364Cys R364C not reviewed Insufficiently evaluated not reviewed unknown Array rs35764129 316 10758 0.0293735 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.305 - - 8 Y 2 - 1 - - SEC16A Asp2047Val D2047V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SEC22B Trp214Cys W214C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SEC23A Leu636Phe L636F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - SEC23B Val426Ile V426I not reviewed Insufficiently evaluated not reviewed unknown Array rs41309927 467 10758 0.0434096 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - SEL1L2 Asp426Val D426V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9470 0.000105596 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SELO Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA4F Val79Ile V79I not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - -4 - 1 N - - SENP6 Ala808Thr A808T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9550 0.000104712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SENP6 Ala801Thr A801T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEP15 Val29Leu V29L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINE3 Arg379Gln R379Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SERPINI1 Ala280Thr A280T not reviewed Insufficiently evaluated not reviewed unknown Array rs55872908 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.995 - - 1 - 2 N - - SESN1 Leu103Ile L103I not reviewed Insufficiently evaluated not reviewed unknown Array rs2273668 919 10756 0.0854407 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SETD2 Thr592Lys T592K not reviewed Insufficiently evaluated not reviewed unknown Array 15 10698 0.00140213 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - 3 - 0 N - - SFRS2IP Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SGEF Asp8Asn D8N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 10 - - SIGLEC15 His70Pro H70P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SIPA1L1 Thr143Ile T143I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - SIRPA Asn100Asp N100D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - SIRPA Asn100Lys N100K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SLC10A2 Phe296Leu F296L not reviewed Insufficiently evaluated not reviewed unknown Array rs71640248 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 3 - 3 - - SLC10A2 Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array rs60380298 278 10758 0.0258412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 1 - 9 - - SLC1A5 Ile225Leu I225L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC1A5 Ile251Leu I251L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC1A5 Ile453Leu I453L not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - SLC22A1 Arg61Cys R61C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12208357 615 10758 0.0571668 4 0 4 2 2 - - - - ! Y - - - - - - - - - Y 1.0 - - 8 Y 3 N 10 - - Variant potentially involved in metabolism of metformin, used to treat diabetes SLC22A24 Gln409Stop Q409X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC26A9 Ala820Ser A820S not reviewed Insufficiently evaluated not reviewed unknown Array rs34309781 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC28A1 Thr304Pro T304P not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC37A4 Arg355Stop R355X pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 4 4 - - 1 Y - - - - 1 Y 4 - Y - - - - Y Y 10 Y Glycogen Storage Disease Type I 2 26 0 4 INF 4 N - - Mutations in SLC37A4 are responsible for 20% of GSD1, or Glycogen storage disease type I, which is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly. SLC37A4 Gln198His Q198H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SLC4A7 Pro896Ser P896S not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC5A12 Val397Gly V397G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLCO1B1 Leu643Phe L643F not reviewed Insufficiently evaluated not reviewed unknown Array rs34671512 628 10670 0.0588566 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLCO5A1 Pro248Ser P248S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 1 - - SLIT3 Val1454Gly V1454G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 8 Y 1 N - - SON Asn2215Ser N2215S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SP110 Gly126Ser G126S not reviewed Insufficiently evaluated not reviewed unknown Array rs41309088 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SPAG9 Ser269Leu S269L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPAG9 Ser283Leu S283L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - SPG11 Tyr886His Y886H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SPINK5 Arg268Cys R268C not reviewed Insufficiently evaluated not reviewed unknown Array 61 9454 0.00645229 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ST7L Arg168Gly R168G not reviewed Insufficiently evaluated not reviewed unknown Array 152 10756 0.0141316 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.234 - - 6 Y 1 N - - ST7L Arg151Gly R151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STAC Val20Ala V20A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - STAG3 Val404Gly V404G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - STAG3 Glu405Gly E405G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 2 N - - STX19 Arg142Cys R142C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - SUCLA2 Asp367Asn D367N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.338 Y Y -1 - 3 N - - SUSD1 Gly285Asp G285D not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SUZ12 Ser726Asn S726N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10602 0.000943218 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - TAS2R1 Pro223Ser P223S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - TAS2R19 Val267Leu V267L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R19 Cys264Tyr C264Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 6 Y 2 N - - TAS2R19 Leu202Pro L202P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - TAS2R19 Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.267 - - -4 - 1 N - - TAS2R31 Phe71Leu F71L not reviewed Insufficiently evaluated not reviewed unknown Array 1773 10368 0.171007 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TAS2R43 Ile147Val I147V not reviewed Insufficiently evaluated not reviewed unknown Array rs73064966 2320 9766 0.237559 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAS2R46 Val141Ala V141A not reviewed Insufficiently evaluated not reviewed unknown Array 169 10314 0.0163855 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TBC1D7 Ile154Ser I154S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - 5 Y 1 N - - TBC1D7 Ile127Ser I127S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TDRKH Ala404Val A404V not reviewed Insufficiently evaluated not reviewed unknown Array 58 9988 0.00580697 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TDRKH Ala359Val A359V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TDRKH Ala404Ser A404S not reviewed Insufficiently evaluated not reviewed unknown Array 56 9984 0.00560897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TDRKH Ala359Ser A359S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TECPR2 Glu867Lys E867K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - TENC1 Glu281Lys E281K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TENC1 Glu405Lys E405K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TENC1 Glu415Lys E415K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TESSP2 Cys291Trp C291W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TFPI2 Cys191Trp C191W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TIMELESS Val461Gly V461G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 8 Y 1 N - - TLR10 Arg799Gln R799Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4129008 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 1 - 8 - - TLR10 Leu167Pro L167P not reviewed Insufficiently evaluated not reviewed unknown Array rs11466650 6 10752 0.000558035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 3 - 5 - - TM4SF19 Val162Ile V162I not reviewed Insufficiently evaluated not reviewed unknown Array rs35643777 937 10758 0.087098 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 3 - - TM9SF1 Arg215His R215H not reviewed Insufficiently evaluated not reviewed unknown Array rs10583 1198 10758 0.111359 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TM9SF4 Arg150Gln R150Q not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - TMED6 Leu159Met L159M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -3 - 2 N - - TMEM131 His1786Pro H1786P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM194B Trp234Gly W234G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM70 Leu116Val L116V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732273 184 10758 0.0171035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TMOD4 Ala222Gly A222G not reviewed Insufficiently evaluated not reviewed unknown Array rs28730722 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - TMPRSS11D Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - 1 - 1 N - - TMPRSS12 Cys294Trp C294W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TMPRSS7 Arg3Pro R3P not reviewed Insufficiently evaluated not reviewed unknown Array rs11914332 101 3234 0.0312307 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMPRSS7 Val109Gly V109G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNFRSF10D Val69Ala V69A not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNFRSF11B Val281Met V281M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TNFRSF25 Val11Gly V11G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 8 Y 1 N - - TNIP2 Arg73Gly R73G not reviewed Insufficiently evaluated not reviewed unknown Array 252 9300 0.0270968 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - TNK2 Arg1038His R1038H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 1 - 3 - 3 - - TNK2 Arg1086His R1086H not reviewed Insufficiently evaluated not reviewed unknown Array rs13433937 399 10758 0.0370887 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TNKS1BP1 Tyr1122Ser Y1122S not reviewed Insufficiently evaluated not reviewed unknown Array 594 10758 0.0552147 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TNN Met859Val M859V not reviewed Insufficiently evaluated not reviewed unknown Array rs2269654 1011 10758 0.0939766 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - TNRC6A Ala1763Thr A1763T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - TNS1 Val25Ile V25I not reviewed Insufficiently evaluated not reviewed unknown Array rs41272679 276 10758 0.0256553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - TPRG1 Ser141Ile S141I not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.487 - - 5 Y 1 N - - TRAPPC10 Ile633Met I633M not reviewed Insufficiently evaluated not reviewed unknown Array rs915877 739 10758 0.0686931 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.24 - Y -1 - 1 N - - TRERF1 Pro272Gln P272Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.402 - - 4 Y 1 N - - TRIM16L Gly34Ser G34S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM50 Leu8Pro L8P not reviewed Insufficiently evaluated not reviewed unknown Array rs6980124 10727 10738 0.998976 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRIM58 Ala308Thr A308T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM66 Glu494Lys E494K not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM69 Asn239Lys N239K not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - TRIM69 Asn80Lys N80K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSC1 Thr360Asn T360N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.13 Y Y 1 - 2 N - - TSEPA Gly507Asp G507D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTBK1 Pro649Arg P649R not reviewed Insufficiently evaluated not reviewed unknown Array rs35175743 187 10434 0.0179222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - 5 Y 3 - 3 - - TTC26 Leu73Phe L73F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC26 Leu104Phe L104F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - TTK Ile396Val I396V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735782 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TTN Cys25685Ser C25685S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Cys25810Ser C25810S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Cys25877Ser C25877S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Cys32182Ser C32182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Asn14094Thr N14094T not reviewed Insufficiently evaluated not reviewed unknown Array rs36043230 139 9764 0.014236 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Asn7597Thr N7597T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Asn7722Thr N7722T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Asn7789Thr N7789T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Val7505Ile V7505I not reviewed Insufficiently evaluated not reviewed unknown Array rs16866457 107 9630 0.0111111 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile1544Val I1544V not reviewed Insufficiently evaluated not reviewed unknown Array rs72647877 132 10758 0.0122699 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile1498Val I1498V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TUBA3C Val75Leu V75L not reviewed Insufficiently evaluated not reviewed unknown Array rs36215077 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TUSC3 Ile65Val I65V not reviewed Insufficiently evaluated not reviewed unknown Array rs11545035 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - TXNDC2 Pro164Ala P164A not reviewed Insufficiently evaluated not reviewed unknown Array rs72947591 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TXNDC2 Pro231Ala P231A not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.855 - - 2 - 2 N - - TYSND1 Glu196Gly E196G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - UBE2CBP Ser381Tyr S381Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34566948 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - UBR2 Glu126Lys E126K not reviewed Insufficiently evaluated not reviewed unknown Array rs62414610 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - UGCGL2 Trp1449Gly W1449G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT2B28 Val196Leu V196L not reviewed Insufficiently evaluated not reviewed unknown Array rs72551402 1705 10340 0.164894 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - UPK3A Asp121Tyr D121Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.549 - - 7 Y 1 N - - URB2 Leu648Phe L648F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 0 - 1 N - - USP28 Met573Ile M573I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - USPL1 His841Arg H841R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.471 - - 1 - 1 N - - VASH2 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - VASH2 Arg263Gln R263Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - VASH2 Arg284Gln R284Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35976699 227 10758 0.0211006 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - VEZT Val496Ile V496I not reviewed Insufficiently evaluated not reviewed unknown Array rs10507051 298 9616 0.03099 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.25 - - -4 - 2 - 5 - - VIT Glu668Asp E668D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VPS13B Arg974Thr R974T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 3 - 2 N - - VPS37B Tyr191Ser Y191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - VPS37C Val182Asp V182D not reviewed Insufficiently evaluated not reviewed unknown Array rs2232142 684 10724 0.0637822 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.243 - - 8 Y 1 - 2 - - VPS39 Val209Gly V209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VPS72 Val243Ala V243A not reviewed Insufficiently evaluated not reviewed unknown Array 98 10754 0.00911289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - VWF Phe2561Tyr F2561Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35335161 427 10758 0.0396914 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.293 Y Y -4 - 3 N - - WDFY4 Thr2525Pro T2525P not reviewed Insufficiently evaluated not reviewed unknown Array rs35423873 440 3234 0.136054 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - WDR24 Gly784Arg G784R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WWOX Lys182Glu K182E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP2 Val1010Ile V1010I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9650 0.000207253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XIRP2 Arg2242Trp R2242W not reviewed Insufficiently evaluated not reviewed unknown Array 1 9552 0.00010469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - XPC Val456Ile V456I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - XPC Val493Ile V493I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - XPO4 Thr72Pro T72P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.165 - - 4 Y 0 N - - XRCC2 Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array rs3218536 605 10758 0.0562372 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - XRCC4 Ile134Thr I134T not reviewed Insufficiently evaluated not reviewed unknown Array rs28360135 320 10758 0.0297453 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.429 - - 3 - 1 N - - YJEFN3 His267Gln H267Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 9070 0.00220507 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - ZBED5 Ile480Val I480V not reviewed Insufficiently evaluated not reviewed unknown Array rs1046297 82 3230 0.025387 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.494 - - -4 - 2 - 3 - - ZBP1 Gly70Arg G70R not reviewed Insufficiently evaluated not reviewed unknown Array rs34964609 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 2 - 3 - - ZBTB43 Cys402Trp C402W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZC3H6 Asp166Gly D166G not reviewed Insufficiently evaluated not reviewed unknown Array rs79245040 155 9682 0.0160091 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZCCHC4 Asp72His D72H not reviewed Insufficiently evaluated not reviewed unknown Array 157 9424 0.0166596 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.953 - - 3 - 2 N - - ZCCHC7 Gly118Asp G118D not reviewed Insufficiently evaluated not reviewed unknown Array rs35119826 619 10758 0.0575386 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZCWPW2 Thr284Pro T284P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 0 N - - ZDBF2 Ser42Gly S42G not reviewed Insufficiently evaluated not reviewed unknown Array 142 9752 0.0145611 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - ZDHHC24 Gln91Arg Q91R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305534 1477 8982 0.16444 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.836 - - 0 - 0 N - - ZMYM4 Val1185Gly V1185G not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 8 Y 0 N - - ZMYND8 Val538Leu V538L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZMYND8 Val563Leu V563L not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF114 Val207Ala V207A not reviewed Insufficiently evaluated not reviewed unknown Array rs16981956 330 10758 0.0306748 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.445 - - 2 - 1 N - - ZNF141 Cys55Ser C55S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.283 - - 3 - 1 N - - ZNF18 Pro147Leu P147L not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.302 - - 7 Y 1 N - - ZNF227 Val30Gly V30G not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.898 - - 8 Y 2 N - - ZNF268 Ser383Thr S383T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF268 Gln385Glu Q385E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF284 Tyr33His Y33H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZNF285A Lys61Thr K61T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF285A Ala60Gly A60G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF295 Ala522Gly A522G not reviewed Insufficiently evaluated not reviewed unknown Array rs35124464 73 10758 0.00678565 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF30 Gly238Trp G238W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF30 Gly239Trp G239W not reviewed Insufficiently evaluated not reviewed unknown Array 204 10340 0.0197292 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF318 Ser407Ile S407I not reviewed Insufficiently evaluated not reviewed unknown Array rs34541323 370 10758 0.034393 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.358 - - 5 Y 1 N - - ZNF33B Leu522Val L522V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - ZNF431 Glu159Lys E159K not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZNF461 His481Tyr H481Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746529 427 10748 0.0397283 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.043 - - -1 - 0 N - - ZNF469 Arg21His R21H not reviewed Insufficiently evaluated not reviewed unknown Array 27 3162 0.0085389 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZNF469 Gln3858His Q3858H not reviewed Insufficiently evaluated not reviewed unknown Array rs35531824 15 3234 0.00463822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF560 Val117Gly V117G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF561 Val48Gly V48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF57 Val11Gly V11G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF577 Val30Gly V30G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.495 - - 8 Y 1 N - - ZNF613 Val15Gly V15G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - ZNF613 Ser127Phe S127F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - ZNF613 Ser163Phe S163F not reviewed Insufficiently evaluated not reviewed unknown Array rs33998555 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 1 - 2 - - ZNF626 Cys464Tyr C464Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4809072 2755 7758 0.355117 11 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF643 Pro372Arg P372R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - ZNF672 Asp39Ala D39A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 5 Y 1 N - - ZNF679 Tyr212His Y212H not reviewed Insufficiently evaluated not reviewed unknown Array rs1830035 290 3234 0.0896722 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - ZNF679 Cys223Ser C223S not reviewed Insufficiently evaluated not reviewed unknown Array rs1830036 290 3234 0.0896722 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.77 - - 3 - 0 N - - ZNF699 Val26Gly V26G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 8 Y 2 N - - ZNF717 Pro813Ser P813S not reviewed Insufficiently evaluated not reviewed unknown Array rs6668492 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ZNF717 Asn594Ile N594I not reviewed Insufficiently evaluated not reviewed unknown Array 1 28 0.0357143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF717 Cys518Arg C518R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF717 Glu504Lys E504K not reviewed Insufficiently evaluated not reviewed unknown Array 3 94 0.0319149 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - ZNF717 Gln114His Q114H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF717 Met51Ile M51I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF737 Pro368Ser P368S not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.595 - - 3 - 1 N - - ZNF766 Val198Leu V198L not reviewed Insufficiently evaluated not reviewed unknown Array rs62624464 22 10272 0.00214174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 2 - 1 - - ZNF793 Pro74Leu P74L not reviewed Insufficiently evaluated not reviewed unknown Array 8 9876 0.000810044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZNF836 Glu355Gly E355G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739527 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF844 Val329Ala V329A not reviewed Insufficiently evaluated not reviewed unknown Array rs8102258 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF845 Arg925His R925H not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF845 Cys945Arg C945R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF846 Val15Gly V15G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - ZSWIM2 Ile302Val I302V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10740 0.00251397 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - A2BP1 Pro46His P46H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - A2BP1 Pro66His P66H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - A2BP1 Asn190Asp N190D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - A2BP1 Asn210Asp N210D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - A2M Val756Ile V756I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - -4 - 1 N - - A2M Glu624Val E624V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - A2M His358Arg H358R not reviewed Insufficiently evaluated not reviewed unknown Array 4 9670 0.00041365 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 1 - 2 - 4 - - A2ML1 Thr1412Ala T1412A not reviewed Insufficiently evaluated not reviewed unknown Array rs7315591 236 10054 0.0234732 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.475 - - 1 - 1 N - - A4GALT Thr329Ala T329A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 1 - 0 N - - A4GNT Gln295Lys Q295K not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - A4GNT Tyr161Cys Y161C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - AAAS Gly533Arg G533R not reviewed Insufficiently evaluated not reviewed unknown Array rs34451260 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - AACS Glu564Gln E564Q not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 1 - 1 - - AADAC Asn37Lys N37K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AADAC Lys243Ile K243I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AADACL4 Leu154Pro L154P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 7 Y 2 N - - AARS Val92Ile V92I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -4 - 3 - 1 - - AARS2 Arg877Trp R877W not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - AARS2 Val814Met V814M not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - AARS2 Leu809Gln L809Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35967387 210 10758 0.0195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AARS2 Asn399Ser N399S not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AARSD1 Glu213Lys E213K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AARSD1 Glu274Lys E274K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AARSD1 Arg46Cys R46C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AARSD1 Arg46Trp R46W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AASDH Asp650Asn D650N not reviewed Insufficiently evaluated not reviewed unknown Array rs61978622 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 1 - 1 - - AASDH Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - AASDH Thr264Pro T264P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.467 - - 4 Y 1 N - - AASS Asn52Ser N52S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 2 - 10 - - AATF Asp84Asn D84N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 2 N - - AATF Ile98Thr I98T not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - AATF Ile98Met I98M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 1 - 1 - - AATF Met180Val M180V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - AATF Ile494Val I494V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - AATK Arg501Cys R501C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - ABAT Pro445His P445H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.023 Y - 5 Y 1 N - - ABCA1 Val380Ile V380I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ABCA10 Cys885Arg C885R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ABCA10 Ser450Leu S450L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.283 - - 6 Y 1 N - - ABCA10 His372Pro H372P not reviewed Insufficiently evaluated not reviewed unknown Array 193 10756 0.0179435 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ABCA12 Asn1497Asp N1497D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ABCA12 Asn1815Asp N1815D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.252 Y Y -1 - 3 N - - ABCA12 Gly1467Asp G1467D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.56 Y Y 4 Y 3 N - - ABCA12 Gly1785Asp G1785D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.818 Y Y 4 Y 3 N - - ABCA12 Leu1290Pro L1290P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.831 Y Y 7 Y 3 N - - ABCA12 Leu972Pro L972P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 2 - - ABCA12 Ser110Thr S110T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ABCA12 Ser428Thr S428T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.514 Y Y -2 - 3 N - - ABCA12 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 5 - 2 - - ABCA13 Cys529Tyr C529Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Asn761Asp N761D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 His1817Pro H1817P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 Pro2037Arg P2037R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 Pro2067Arg P2067R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA2 Met681Arg M681R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 10 - - ABCA2 Met711Arg M711R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 10 - - ABCA3 Arg1174Trp R1174W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ABCA4 Val2236Ala V2236A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 2 - 3 N - - ABCA4 Thr1463Ser T1463S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.042 Y - -2 - 1 N - - ABCA4 Cys941Tyr C941Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ABCA4 Tyr557His Y557H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -1 - 1 N - - ABCA4 Tyr179Cys Y179C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.739 Y - 6 Y 2 N - - ABCA5 Val727Ala V727A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 2 - 2 N - - ABCA5 Ala676Val A676V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - ABCA5 Tyr541His Y541H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.896 - - -1 - 2 N - - ABCA5 Val368Met V368M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA6 Met978Val M978V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10752 0.000651041 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - ABCA6 Thr793Ile T793I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - ABCA6 Asn688Ser N688S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - ABCA7 Ala914Ser A914S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10692 0.000561167 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.715 - - -1 - 1 N - - ABCA7 Asp1452Glu D1452E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - -2 - 1 N - - ABCA7 Arg1505His R1505H not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ABCA7 Gly2082Ser G2082S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA8 Met1438Thr M1438T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - ABCA8 Thr12Ser T12S not reviewed Insufficiently evaluated not reviewed unknown Array rs35643726 245 10756 0.022778 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - ABCA9 Glu1483Lys E1483K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - ABCA9 Leu345Pro L345P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - ABCB1 Val801Met V801M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - ABCB11 Gln546Lys Q546K not reviewed Insufficiently evaluated not reviewed unknown Array 7 9764 0.000716919 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.44 Y Y -2 - 3 N - - ABCB4 Leu861Val L861V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 0 - 1 N - - ABCB4 Arg788Pro R788P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 5 Y 3 N - - ABCB4 Thr651Ser T651S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ABCB5 Gln79His Q79H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCB5 Arg440His R440H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCB5 Asp554Asn D554N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - ABCB5 Ile650Val I650V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCB6 Glu469Lys E469K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.621 - - 0 - 1 N - - ABCB6 Leu425Val L425V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - ABCB6 Leu302Val L302V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ABCB6 Leu281Phe L281F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ABCB9 Phe439Leu F439L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCB9 Phe482Leu F482L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ABCC10 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCC10 Leu1150Pro L1150P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCC11 Asn1277Ile N1277I not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ABCC11 Ser1229Stop S1229X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCC11 Thr1072Ile T1072I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ABCC11 Asn1033Ser N1033S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ABCC11 Ala666Thr A666T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCC11 Pro78Ser P78S not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ABCC11 Trp8Cys W8C not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ABCC12 Glu1191Ala E1191A not reviewed Insufficiently evaluated not reviewed unknown Array rs16945787 202 10758 0.0187767 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 0 N - - ABCC12 Thr649Met T649M not reviewed Insufficiently evaluated not reviewed unknown Array rs61746654 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 3 - - ABCC12 Gly266Arg G266R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ABCC12 Gly260Val G260V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741201 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ABCC12 Tyr188His Y188H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ABCC12 Val74Ile V74I not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ABCC12 Thr31Ile T31I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - 3 - 0 N - - ABCC12 Asp26Asn D26N not reviewed Insufficiently evaluated not reviewed unknown Array rs60315991 119 10758 0.0110615 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - ABCC2 Lys236Glu K236E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 0 - 1 N - - ABCC2 Leu287Phe L287F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.97 Y - 0 - 3 N - - ABCC2 Arg353His R353H not reviewed Insufficiently evaluated not reviewed unknown Array rs7080681 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 1 - 2 - 4 - - ABCC2 Arg768Gly R768G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - ABCC2 Ser789Cys S789C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 3 - 3 N - - ABCC2 Asn807Thr N807T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.027 Y - 1 - 1 N - - ABCC2 Arg915Cys R915C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.06 Y - 8 Y 1 N - - ABCC2 Ser938Asn S938N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ABCC2 Ile982Val I982V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -4 - 2 - 1 - - ABCC2 Asn1063Ser N1063S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.833 Y - 0 - 3 - 2 - - ABCC2 Ala1450Pro A1450P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 2 - 3 N - - ABCC3 Ser314Thr S314T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 4 - - ABCC3 Gln701Arg Q701R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.175 - - 0 - 0 N - - ABCC3 Arg1381Gly R1381G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 7 - - ABCC4 Gln1314Leu Q1314L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 7 - - ABCC4 Thr1142Arg T1142R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 6 - - ABCC4 Gln1122Arg Q1122R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCC4 Gly1096Asp G1096D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCC4 Met184Thr M184T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 9 - - ABCC4 Met184Lys M184K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 8 - - ABCC5 Ala349Thr A349T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCC6 Ala1291Thr A1291T not reviewed Insufficiently evaluated not reviewed unknown Array rs58694313 337 10758 0.0313255 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ABCC8 Asp818Gly D818G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ABCC9 Leu1136Phe L1136F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 0 - 4 N - - ABCC9 Leu1172Phe L1172F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.685 Y Y 0 - 3 N - - ABCC9 Val637Ile V637I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ABCD2 His585Arg H585R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ABCD3 Asn148Asp N148D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 Y Y -1 - 2 N - - ABCF1 Glu661Gly E661G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCF1 Glu699Gly E699G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 6 Y 2 N - - ABCF2 Lys224Met K224M not reviewed Insufficiently evaluated not reviewed unknown Array rs61739226 241 10758 0.0224019 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - ABCF3 Val506Ile V506I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ABCG2 Phe495Leu F495L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ABCG2 Lys453Arg K453R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - -3 - 2 N - - ABCG5 Arg50Cys R50C protective Low clinical importance, Likely protective undefined Array rs6756629 736 10758 0.0684142 11 0 12 1 1 1 Y - - 4 Y 0 Y 2 Y 4 Y Y - Y Y 0.985 Y - 8 Y 4 N 5 0 1 This variant has a mild protective effect on blood cholesterol. It is associated with slightly lower total and LDL cholesterol levels. ABHD1 Thr353Pro T353P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 4 Y 1 N - - ABHD10 Lys248Glu K248E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - ABI2 Ser315Asn S315N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABI3BP Glu314Asp E314D not reviewed Insufficiently evaluated not reviewed unknown Array 106 9600 0.0110417 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - ABL1 Ala1055Thr A1055T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABL1 Ala1074Thr A1074T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABL2 Val181Ala V181A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABL2 Val196Ala V196A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABL2 Val202Ala V202A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABL2 Val217Ala V217A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 3 - 3 - - ABLIM1 Asn175Lys N175K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ABLIM1 Asn235Lys N235K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ABLIM1 Gly72Val G72V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABLIM1 Gly31Ser G31S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABLIM2 Gln408Glu Q408E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABLIM2 Gln419Glu Q419E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABLIM2 Gln493Glu Q493E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABLIM2 Arg355Pro R355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABLIM2 Arg366Pro R366P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABLIM3 Asn19Ser N19S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ABO Arg350Trp R350W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABR Lys707Arg K707R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABR Lys716Arg K716R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABR Lys753Arg K753R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.752 - - -3 - 2 - 1 - - ABR Met45Thr M45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 9 - - ABR Met54Thr M54T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - ABR Met91Thr M91T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 3 - - ABRA Gly370Ser G370S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 2 N - - ABRA Leu279Pro L279P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.944 - - 7 Y 2 N - - ABRA Thr183Ala T183A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 1 - 2 - - ABT1 Leu186Pro L186P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - ABTB2 Arg522Trp R522W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - ACAA1 Leu276Gln L276Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ACAA1 Leu369Gln L369Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 5 Y 0 N - - ACAA1 Gly202Val G202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACAA1 Gly235Val G235V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ACACA Val427Ala V427A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ACACA Val447Ala V447A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACACA Val505Ala V505A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - ACACA Val542Ala V542A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACACA Ile412Thr I412T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACACA Ile432Thr I432T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACACA Ile490Thr I490T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 3 - 2 N - - ACACA Ile527Thr I527T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ACACB Ala644Thr A644T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACACB Glu1923Gln E1923Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACACB Gln2387Arg Q2387R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAD11 Ala348Ser A348S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACAD11 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACAD9 Val463Ile V463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ACADM Lys389Arg K389R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ACADM Lys393Arg K393R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ACADSB His213Gln H213Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - -1 - 1 N - - ACADSB Ile316Val I316V not reviewed Insufficiently evaluated not reviewed unknown Array rs1131430 774 10758 0.0719465 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - ACADVL Arg344Pro R344P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ACADVL Arg366Pro R366P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 5 Y 4 N - - ACAN Glu1333Lys E1333K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAN Gly1735Val G1735V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - ACAN Gly1886Ser G1886S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ACAN Pro1944Leu P1944L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - ACAN Ser2006Arg S2006R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ACAP1 Phe17Val F17V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - ACAP3 Ser411Cys S411C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACBD3 Ser511Pro S511P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - ACBD3 Arg214Gly R214G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACBD5 Asp357Glu D357E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ACBD5 Asp392Glu D392E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ACE Trp227Arg W227R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - ACE Ala261Ser A261S not reviewed Insufficiently evaluated not reviewed unknown Array rs4303 343 10758 0.0318832 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - -1 - 2 - 2 - - ACE Gly618Ser G618S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.286 Y - 2 - 3 - 2 - - ACE Ser32Pro S32P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 10 - - ACE Ser49Gly S49G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 10 - - ACE2 Gln552Arg Q552R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ACER2 Thr58Ile T58I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ACER3 Leu70Pro L70P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACIN1 Gln678Leu Q678L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ACIN1 Tyr512Cys Y512C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACO1 Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ACOT1 Thr249Met T249M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - ACOT11 Asp575Glu D575E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACOT6 Gln186Arg Q186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ACOX1 Leu273Pro L273P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.877 Y - 7 Y 3 N - - ACOX2 Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 1 - 2 N - - ACOX3 Asp497Asn D497N not reviewed Insufficiently evaluated not reviewed unknown Array rs13434465 470 10758 0.0436884 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ACOX3 Gln460His Q460H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - ACOX3 Met150Leu M150L not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - ACOX3 Glu34Ala E34A not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - ACOXL Met179Leu M179L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ACOXL Phe194Leu F194L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - ACOXL His455Gln H455Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACOXL His485Gln H485Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - -1 - 1 N - - ACP1 Lys7Asn K7N not reviewed Insufficiently evaluated not reviewed unknown Array rs11691572 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 1 - 10 - - ACP2 Asp365Glu D365E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.267 - - -2 - 1 N - - ACPL2 Lys273Gln K273Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - ACRBP Gln181Arg Q181R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.734 - - 0 - 1 N - - ACRBP Ser128Thr S128T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - -2 - 3 - 1 - - ACRV1 Gly149Ala G149A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACRV1 Gly54Ala G54A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ACRV1 Gly79Ala G79A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACRV1 Gly94Ala G94A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACRV1 Gly146Ser G146S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - ACRV1 Gly51Ser G51S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACRV1 Gly76Ser G76S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACRV1 Gly91Ser G91S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACRV1 Gly106Ser G106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ACRV1 Ser21Gly S21G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSBG1 Ala673Val A673V not reviewed Insufficiently evaluated not reviewed unknown Array rs11072735 512 10758 0.0475925 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSBG1 Gln50His Q50H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 N - - ACSBG2 Leu70His L70H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - ACSF2 Leu245Pro L245P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - ACSL1 Asn547Ser N547S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ACSL1 Ser423Gly S423G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - ACSL1 Ile224Lys I224K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - 6 Y 2 N - - ACSL1 Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSL5 Phe215Ser F215S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - ACSL5 Phe271Ser F271S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ACSL5 Gly411Arg G411R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ACSL5 Gly467Arg G467R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACSL5 Arg579Trp R579W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.791 - - 7 Y 1 N - - ACSL5 Arg635Trp R635W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACSM1 Ile515Thr I515T not reviewed Insufficiently evaluated not reviewed unknown Array rs16970453 95 10758 0.00883064 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.558 - - 3 - 1 N - - ACSM1 Thr278Ser T278S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745764 424 10758 0.0394125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACSM1 Ile272Met I272M not reviewed Insufficiently evaluated not reviewed unknown Array rs16970511 94 10758 0.00873768 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.774 - - -1 - 1 N - - ACSM2A Cys271Gly C271G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACSM3 Trp292Stop W292X not reviewed Insufficiently evaluated not reviewed unknown Array rs52817836 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACSM4 Thr373Met T373M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ACSM5 Ala41Ser A41S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ACSM5 Ala395Val A395V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.89 - - 2 - 2 N - - ACSM5 Asp400Asn D400N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.471 - - -1 - 1 N - - ACSS1 Val487Ile V487I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ACSS1 Val479Ile V479I not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - -4 - 0 N - - ACSS1 Val265Ile V265I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACSS1 Val126Ile V126I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ACSS2 Thr133Ala T133A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ACSS2 Thr83Ala T83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSS2 Glu251Lys E251K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACSS2 Glu301Lys E301K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 0 - 1 N - - ACSS2 Val479Leu V479L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACSS2 Val529Leu V529L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ACSS3 Gly164Ser G164S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - ACTC1 His277Arg H277R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 1 - 4 N - - ACTL6A Cys110Trp C110W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACTL6A Cys152Trp C152W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ACTL6A Asp297Glu D297E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ACTL6A Asp339Glu D339E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 1 - 1 - - ACTL7A Val127Ile V127I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - ACTL7A Tyr225Ser Y225S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 5 Y 2 N - - ACTL7A Glu289Gln E289Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.587 - - -2 - 2 - 1 - - ACTL7B Val46Leu V46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ACTL8 Val320Ile V320I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - ACTL9 Arg400Gln R400Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ACTN1 Thr506Ala T506A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACTN1 Asp210His D210H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.806 - - 3 - 1 N - - ACTN2 Arg307Gln R307Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - ACTR1B Asn133Lys N133K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - ACTR1B Met45Leu M45L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ACTR3 Thr326Ala T326A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.783 - - 1 - 1 N - - ACTR6 Glu383Gly E383G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 6 Y 2 N - - ACTR8 Gly199Ser G199S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 2 - 3 - 1 - - ACTR8 Gly198Glu G198E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ACTR8 Glu169Gly E169G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ACVR1B Arg478His R478H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 4 - 1 - - ACVRL1 Lys486Glu K486E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - ACY3 Ala200Ser A200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - -1 - 0 N - - ACYP1 Thr39Ile T39I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAD1 Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAD1 Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAD2 Arg244Lys R244K not reviewed Insufficiently evaluated not reviewed unknown Array 54 10750 0.00502326 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -3 - 1 N - - ADAD2 Arg316Lys R316K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAD2 Arg525Trp R525W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ADAD2 Arg607Trp R607W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAD2 Ala541Ser A541S not reviewed Insufficiently evaluated not reviewed unknown Array 273 10758 0.0253765 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - ADAD2 Ala623Ser A623S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAM12 Lys850Thr K850T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 3 - 1 N - - ADAM12 Lys170Arg K170R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - ADAM15 Pro681Ser P681S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAM17 Arg202Stop R202X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - ADAM17 Leu60Ile L60I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - ADAM18 Gly309Cys G309C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - 7 Y 1 N - - ADAM19 Ala454Val A454V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ADAM19 Ala455Val A455V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 3 - 2 - - ADAM19 Gln103Glu Q103E not reviewed Insufficiently evaluated not reviewed unknown Array rs11134804 330 10758 0.0306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAM19 Gln104Glu Q104E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - -2 - 2 N - - ADAM2 Arg674His R674H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - ADAM2 Arg15Trp R15W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ADAM20 Arg742His R742H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAM20 Cys704Arg C704R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAM20 Val541Ala V541A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM20 Cys528Arg C528R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAM20 Cys497Arg C497R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAM20 Glu467Gly E467G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM20 Tyr450Cys Y450C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM20 Ser440Asn S440N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM20 Cys414Arg C414R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAM20 Glu299Gly E299G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM23 Ser125Ala S125A not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.475 - - -1 - 1 N - - ADAM28 Tyr28Cys Y28C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM30 Gly132Cys G132C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - ADAM32 Asp778Glu D778E not reviewed Insufficiently evaluated not reviewed unknown Array rs28705715 1007 9440 0.106674 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ADAM33 Pro414Ser P414S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - 3 - 0 N - - ADAM7 Thr54Ala T54A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ADAM7 Gly682Ser G682S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM9 Ala234Val A234V not reviewed Insufficiently evaluated not reviewed unknown Array 503 10758 0.0467559 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 2 N - - ADAM9 Glu289Val E289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - ADAMTS1 His71Asp H71D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - ADAMTS10 Arg27Trp R27W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.942 Y Y 7 Y 4 N - - ADAMTS12 Ser1591Pro S1591P not reviewed Insufficiently evaluated not reviewed unknown Array rs16891281 782 10758 0.0726901 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ADAMTS12 Pro1025Ser P1025S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS12 Arg856His R856H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ADAMTS12 Gly738Arg G738R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 6 Y 2 N - - ADAMTS14 Asp184Asn D184N not reviewed Insufficiently evaluated not reviewed unknown Array rs35682622 230 10758 0.0213794 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 1 - 1 - - ADAMTS14 Arg192Gln R192Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 0 - 0 N - - ADAMTS14 Tyr677His Y677H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - ADAMTS14 Tyr680His Y680H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAMTS14 Leu937Val L937V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.376 - - 0 - 2 - 5 - - ADAMTS14 Leu940Val L940V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - ADAMTS15 Gly235Ser G235S not reviewed Insufficiently evaluated not reviewed unknown Array rs61753090 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 1 - - ADAMTS15 Ser810Ala S810A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAMTS18 Ala1058Thr A1058T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS18 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -4 - 0 N - - ADAMTS20 Arg1630Gln R1630Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS20 Tyr1571Ser Y1571S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADAMTS20 Met600Thr M600T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS3 Asp1193Gly D1193G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAMTS3 Ile301Val I301V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAMTS4 Thr806Ala T806A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS4 Ser799Gly S799G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 2 N - - ADAMTS4 Arg715Trp R715W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ADAMTS6 Met752Val M752V not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Thr1189Ala T1189A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10712 0.00345407 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS7 Ala636Thr A636T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS7 Met556Val M556V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10752 0.00204613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Arg430Cys R430C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAMTS9 Tyr1778Cys Y1778C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS9 Thr1362Ala T1362A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS9 Arg956His R956H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS9 Thr273Met T273M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS9 Pro212Leu P212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS9 Pro212Ser P212S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTSL1 Val412Ala V412A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTSL1 Lys637Arg K637R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAMTSL1 Ala847Gly A847G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTSL1 Gly1461Ser G1461S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTSL3 Asp182Gly D182G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ADAMTSL3 Lys242Glu K242E not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ADAMTSL3 Ala624Glu A624E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - ADAMTSL3 Pro705Leu P705L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - ADAMTSL3 Leu1233Phe L1233F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - ADAMTSL4 His31Leu H31L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.875 - - 6 Y 2 N - - ADAT1 Gly275Ser G275S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - ADAT1 Val124Leu V124L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCK1 Arg358His R358H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADCK1 Arg426His R426H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADCK2 Val418Leu V418L not reviewed Insufficiently evaluated not reviewed unknown Array rs3748092 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCK4 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADCK4 Ala437Thr A437T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 2 N - - ADCK4 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADCK4 Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ADCK4 Arg63Gly R63G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ADCK4 Gly7Asp G7D not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 1 - 3 - - ADCY10 Asn1608Asp N1608D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ADCY10 Gly904Glu G904E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 6 Y 1 N - - ADCY2 Val146Glu V146E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.071 - - 5 Y 0 N - - ADCY3 Ser188Gly S188G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ADCY5 Ser858Phe S858F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - ADCY5 Val314Met V314M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - ADCY7 Pro763Leu P763L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - 7 Y 1 N - - ADCY7 Phe983Leu F983L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ADCY8 Glu939Gly E939G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - ADCY8 Tyr704His Y704H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ADCY8 Arg611Trp R611W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 7 Y 0 N - - ADCY8 Arg355Gly R355G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ADCY9 Asn1154Ile N1154I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.3 - - 7 Y 1 N - - ADCY9 Ser661Gly S661G not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCYAP1R1 Ser152Leu S152L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 6 Y 1 N - - ADD1 Gly3Asp G3D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 4 Y 3 - 9 - - ADD1 Asn84Asp N84D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - ADD1 Met98Thr M98T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - ADD1 Lys467Asn K467N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - ADD2 Lys195Arg K195R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADD2 Lys501Arg K501R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - -3 - 1 N - - ADD3 Ser102Pro S102P not reviewed Insufficiently evaluated not reviewed unknown Array rs41291886 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.049 - - 3 - 0 N - - ADD3 Ala579Gly A579G not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADD3 Phe587Leu F587L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADD3 Phe619Leu F619L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADH1B Trp16Arg W16R not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - ADH1C Ile173Ser I173S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADH4 Thr110Ala T110A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADH4 Thr83Ile T83I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - ADH6 Asp344Gly D344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.364 - - 4 Y 1 N - - ADH7 Met245Val M245V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADH7 His64Arg H64R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADH7 Lys45Arg K45R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADHFE1 Arg288Gln R288Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.21 - - 0 - 1 N - - ADHFE1 Glu461Gly E461G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.751 - - 6 Y 1 N - - ADIPOQ Ala161Val A161V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - ADIPOR2 Gln39Arg Q39R not reviewed Insufficiently evaluated not reviewed unknown Array rs12298275 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 1 - 5 - - ADIPOR2 Cys246Trp C246W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - ADK Glu114Lys E114K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADK Glu131Lys E131K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ADNP Lys788Arg K788R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -3 - 2 N - - ADNP Thr700Arg T700R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ADNP2 Asn815Ser N815S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ADORA2A Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array rs4530 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 8 - - ADORA2A Asp402Glu D402E not reviewed Insufficiently evaluated not reviewed unknown Array 82 10748 0.00762933 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADORA3 Thr247Ile T247I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADORA3 Thr328Ile T328I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADORA3 Leu90Val L90V not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - ADPRHL1 Gly41Arg G41R not reviewed Insufficiently evaluated not reviewed unknown Array rs34085933 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 1 - 1 - - ADRA1D Asp80Glu D80E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADRBK2 Tyr368Cys Y368C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ADSL Lys147Met K147M not reviewed Insufficiently evaluated not reviewed unknown Array rs11089991 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - ADSS Glu153Gly E153G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADSSL1 Asp293Gly D293G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 4 Y 0 N - - ADSSL1 Asp336Gly D336G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AEBP1 Thr161Ser T161S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AEBP1 Arg394His R394H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - AEBP1 Ile444Leu I444L not reviewed Insufficiently evaluated not reviewed unknown Array rs61737461 232 10758 0.0215653 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - AEN Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 1 - 2 - - AFAP1 Glu279Gly E279G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 6 Y 1 N - - AFAP1L1 Asp409Val D409V not reviewed Insufficiently evaluated not reviewed unknown Array 102 10754 0.00948484 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 8 Y 2 N - - AFAP1L1 Pro573Ser P573S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - AFAP1L2 Thr242Met T242M not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - AFF1 Leu423Pro L423P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AFF1 Ser620Cys S620C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AFF3 Ser893Gly S893G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AFF3 Ser918Gly S918G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AFF4 Asp944Asn D944N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - AFF4 Gln458Arg Q458R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - AFF4 Gly143Ser G143S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AFM Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10720 0.00447761 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 9 - - AFM Ser443Pro S443P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 1 - - AFP Ala570Gly A570G not reviewed Insufficiently evaluated not reviewed unknown Array rs7790 579 10758 0.0538204 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.284 - - 1 - 0 N - - AFTPH Phe47Leu F47L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - AFTPH Asn550Ser N550S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - AGAP2 Val8Ile V8I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AGAP5 Ile67Thr I67T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGBL1 Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10064 9.9364e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - AGBL1 Pro610Thr P610T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - AGBL2 Pro384Ala P384A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.674 - - 2 - 1 N - - AGBL4 Arg215Gln R215Q not reviewed Insufficiently evaluated not reviewed unknown Array 222 9954 0.0223026 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGBL5 Ser683Asn S683N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - AGGF1 Ser284Phe S284F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - AGK Ile149Val I149V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.41 - - -4 - 1 N - - AGK Thr255Met T255M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - AGL Gln212Arg Q212R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - AGL Gln213Arg Q213R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - AGL Gln229Arg Q229R not reviewed Insufficiently evaluated not reviewed unknown Array rs17121403 449 10758 0.0417364 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - AGL Glu1326Lys E1326K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 0 - 1 N - - AGL Glu1327Lys E1327K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - AGL Glu1343Lys E1343K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.292 Y - 0 - 2 N - - AGR2 Asn147Lys N147K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 3 - 2 - - AGRN Gly1111Ser G1111S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AGRN Ala1514Pro A1514P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AGT Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 7 Y 3 - 8 - - AGTPBP1 Ile399Val I399V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - -4 - 1 N - - AGTPBP1 Lys141Arg K141R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - AGTR1 Val65Ile V65I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - AGXT2 Leu87Pro L87P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 7 Y 1 N - - AGXT2L1 Arg115Cys R115C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AGXT2L1 Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AGXT2L1 Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AHCTF1 Arg1476Leu R1476L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AHCTF1 Pro1096Ser P1096S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHCTF1 Pro984Ala P984A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHCY Glu313Lys E313K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHCY Ile24Val I24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AHCY Pro6Arg P6R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.1 - - 5 Y 1 - 9 - - AHCYL1 Ser85Pro S85P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - AHCYL1 Ile122Thr I122T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - AHDC1 Cys1341Gly C1341G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - AHNAK Pro5409Ser P5409S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - AHNAK Ser4520Thr S4520T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - -2 - 1 N - - AHNAK Asn3587Asp N3587D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AHNAK Gly3501Arg G3501R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AHNAK Pro3427Leu P3427L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK Lys2493Glu K2493E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - AHNAK Leu2393Pro L2393P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - AHNAK Val1940Met V1940M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Ala1650Thr A1650T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AHNAK Met1620Val M1620V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Gly621Cys G621C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - AHNAK Lys537Gln K537Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - AHNAK2 Thr5732Arg T5732R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 3 - 2 - 2 - - AHNAK2 Arg4512His R4512H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10052 0.000497413 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - AHNAK2 Glu3658Val E3658V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 5 Y 2 N - - AHNAK2 Ile3248Val I3248V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.069 - - -4 - 0 N - - AHNAK2 Glu2833Ala E2833A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9932 0.000302053 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 2 N - - AHNAK2 Val2284Met V2284M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10044 0.000696933 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.556 - - 0 - 1 N - - AHNAK2 Pro1171Leu P1171L not reviewed Insufficiently evaluated not reviewed unknown Array rs35374867 341 9834 0.0346756 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - AHNAK2 Gly601Asp G601D not reviewed Insufficiently evaluated not reviewed unknown Array 191 10480 0.0182252 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - AHNAK2 Arg51Gly R51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - AHR Pro275Leu P275L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.603 - - 7 Y 1 N - - AHSG Arg340His R340H not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AIF1L Met125Leu M125L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - -3 - 0 N - - AIM1 Met713Val M713V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AIM1L Ser571Leu S571L not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - AIMP1 Val189Ala V189A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - AIMP1 Val213Ala V213A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AIMP2 Leu166Ile L166I not reviewed Insufficiently evaluated not reviewed unknown Array rs34525431 309 10758 0.0287228 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 2 - - AIP Asp172Glu D172E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.192 Y - -2 - 1 N - - AIP Gln307Pro Q307P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 4 Y 1 N - - AK2 Tyr201Phe Y201F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -4 - 2 N - - AK5 Lys177Asn K177N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - AK5 Lys203Asn K203N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - AK5 Thr320Ala T320A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK5 Thr346Ala T346A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK7 Gly246Arg G246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 6 Y 0 N - - AK7 Asp417Asn D417N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - AK7 Lys532Glu K532E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - AK7 Asn697Thr N697T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 1 - 0 N - - AKAP1 Gly241Ala G241A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - AKAP1 Asp297Glu D297E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 2 - 1 - - AKAP1 Thr407Ala T407A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - AKAP10 Lys29Arg K29R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.423 - - -3 - 1 N - - AKAP11 Val503Ala V503A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - AKAP11 Leu557Ile L557I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - AKAP11 Lys914Arg K914R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - AKAP11 Tyr1877His Y1877H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - AKAP12 Gly171Glu G171E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - AKAP12 Gly269Glu G269E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - AKAP12 Glu1305Gly E1305G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP12 Glu1403Gly E1403G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - AKAP12 Gln1315His Q1315H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP12 Gln1413His Q1413H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - -1 - 2 N - - AKAP13 Tyr235His Y235H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.097 - - -1 - 0 N - - AKAP13 Val394Ile V394I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - AKAP13 Met487Ile M487I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.404 - - -1 - 1 N - - AKAP13 Ser921Cys S921C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - AKAP13 Ala1002Thr A1002T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - AKAP13 Glu186Gly E186G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP13 Glu1941Gly E1941G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - AKAP13 Glu1945Gly E1945G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP13 His2366Gln H2366Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - AKAP13 His2370Gln H2370Q not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP13 His611Gln H611Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP13 Thr2753Pro T2753P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - AKAP13 Thr2757Pro T2757P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AKAP13 Thr998Pro T998P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AKAP13 Asn2754Asp N2754D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.746 - - -1 - 1 N - - AKAP13 Asn2758Asp N2758D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP13 Asn999Asp N999D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP2 Asn370Ile N370I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP2 Asn459Ile N459I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP2 Ala570Ser A570S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP2 Ala659Ser A659S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP2 Pro661Arg P661R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKAP2 Pro750Arg P750R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKAP2 Ser685Leu S685L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP2 Ser774Leu S774L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP2 Glu854Val E854V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKAP2 Glu943Val E943V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKAP6 Pro431Ser P431S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - AKAP6 Arg862Gly R862G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 6 Y 2 N - - AKAP6 Thr1153Ala T1153A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - AKAP6 Leu1156Pro L1156P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.376 - - 7 Y 1 N - - AKAP6 Val1201Ala V1201A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 2 N - - AKAP6 Ser1328Pro S1328P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - AKAP6 Met1482Val M1482V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - AKAP6 Phe1883Leu F1883L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 1 N - - AKAP7 Leu114Phe L114F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.444 - - 0 - 1 N - - AKAP8 Tyr539Cys Y539C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - AKAP8 Pro459Thr P459T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 2 N - - AKAP8 Leu350Phe L350F not reviewed Insufficiently evaluated not reviewed unknown Array rs34063092 268 10758 0.0249117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP8 Thr24Ser T24S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP9 Glu1911Gly E1911G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKD1 Asp759Tyr D759Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKNA Pro691Ser P691S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.158 - - 3 - 0 N - - AKNA Arg530Gln R530Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - AKNA Arg9Leu R9L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - AKR1B1 Thr288Ile T288I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 3 - 1 - 10 - - AKR1C2 Ser87Cys S87C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - AKR1C2 Lys75Glu K75E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 1 - - AKR1C3 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35961894 279 10752 0.0259487 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR1C3 Lys104Asn K104N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - AKR1C4 Ser145Cys S145C not reviewed Insufficiently evaluated not reviewed unknown Array rs3829125 1224 10758 0.113776 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 10 - - AKR1C4 Ala243Gly A243G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR1C4 Leu311Val L311V not reviewed Insufficiently evaluated not reviewed unknown Array rs17134592 1223 10758 0.113683 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 10 - - AKR1CL1 Arg94Trp R94W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 7 Y 2 N - - AKR1CL2 Glu21Lys E21K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - AKR1CL2 Asp35His D35H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKR1CL2 Ser212Pro S212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKR1D1 Arg315Cys R315C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AKR7A2 Val166Met V166M not reviewed Insufficiently evaluated not reviewed unknown Array 296 10758 0.0275144 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.179 - - 0 - 0 N - - AKR7L Gly236Ser G236S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKR7L Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKT1 Arg465His R465H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH16A1 Ala297Pro A297P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 3 - 2 - - ALDH16A1 Ala348Pro A348P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 2 - - ALDH16A1 Arg326His R326H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ALDH16A1 Arg377His R377H not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.188 - - 1 - 0 N - - ALDH16A1 Ala633Thr A633T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH16A1 Ala684Thr A684T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - ALDH18A1 Val449Met V449M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH18A1 Val451Met V451M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - ALDH18A1 His30Tyr H30Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - -1 - 0 N - - ALDH1A3 Ile156Val I156V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - ALDH1B1 Val176Ile V176I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - ALDH1L2 Ile385Val I385V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ALDH2 Ala250Val A250V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - ALDH3A1 Thr322Met T322M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH3A2 Gly334Arg G334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - ALDH3B1 Pro97Leu P97L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - ALDH3B2 Thr246Met T246M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH3B2 Gly226Ser G226S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH3B2 Val222Met V222M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH3B2 Cys163Stop C163X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ALDH4A1 Pro484Leu P484L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ALDH4A1 Pro544Leu P544L not reviewed Insufficiently evaluated not reviewed unknown Array rs72953172 143 10758 0.0132924 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.769 Y - 7 Y 2 N - - ALDH4A1 Ile478Val I478V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ALDH4A1 Ile538Val I538V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ALDH5A1 Lys366Glu K366E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALDH5A1 Lys379Glu K379E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALDH7A1 Arg334Gly R334G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ALDH9A1 Ala460Val A460V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - ALDOA Leu271Val L271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.859 - - 0 - 2 N - - ALG1 Met112Leu M112L not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ALG1 Phe185Cys F185C not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 4 Y 2 N - - ALG10 Ser10Leu S10L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 1 N - - ALG10B Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ALG11 Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - -4 - 0 N - - ALG11 Gly160Ser G160S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 2 - 0 N - - ALG14 Asp87Gly D87G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - ALG1L Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array 5 6256 0.000799232 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALG1L Val88Met V88M not reviewed Insufficiently evaluated not reviewed unknown Array 235 6420 0.0366044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ALG5 Val143Phe V143F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALG5 Val173Phe V173F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALG5 Ala36Thr A36T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALG6 Lys226Asn K226N not reviewed Insufficiently evaluated not reviewed unknown Array rs35604168 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALG6 Leu244Pro L244P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.776 Y Y 7 Y 3 N - - ALG8 Lys451Arg K451R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -3 - 2 N - - ALG8 Ile128Val I128V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ALK Ser426Thr S426T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -2 - 2 N - - ALMS1 Thr128Arg T128R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ALOX12 Arg430His R430H not reviewed Insufficiently evaluated not reviewed unknown Array rs11571342 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 1 - 1 - 7 - - ALOX12B Ile516Thr I516T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.322 Y Y 3 - 3 N - - ALOX15 Cys96Tyr C96Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 3 - 1 - - ALOX15B Asp235Glu D235E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 3 - 3 - - ALOX15B Arg561Gln R561Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALOX15B Arg606Gln R606Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALOX15B Arg635Gln R635Q not reviewed Insufficiently evaluated not reviewed unknown Array 308 10758 0.0286299 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ALOX15B Gln582Pro Q582P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 8 - - ALOX15B Gln627Pro Q627P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 8 - - ALOX15B Gln656Pro Q656P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 8 - - ALPK1 Val147Leu V147L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPK1 Pro318Thr P318T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.439 - - 4 Y 1 N - - ALPK1 Cys818Tyr C818Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 6 Y 2 N - - ALPK2 Pro1300Ser P1300S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - ALPK2 Leu1148Val L1148V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ALPK2 Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ALPK3 Ser419Gly S419G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.579 - - 2 - 1 N - - ALPK3 Arg1412Trp R1412W not reviewed Insufficiently evaluated not reviewed unknown Array rs55752937 237 10390 0.0228104 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - ALPL Val461Ile V461I not reviewed Insufficiently evaluated not reviewed unknown Array 84 10746 0.00781686 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.033 Y Y -4 - 3 - 1 - - ALPP Glu37Gln E37Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61738993 200 10758 0.0185908 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ALS2CL Leu108Gln L108Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALS2CL Leu761Gln L761Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ALS2CL Phe609Cys F609C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ALS2CL Asp339Asn D339N not reviewed Insufficiently evaluated not reviewed unknown Array 157 10756 0.0145965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - ALS2CR11 Asp421Glu D421E not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.635 - - -2 - 1 N - - ALS2CR12 Ser37Cys S37C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALS2CR4 Asp183Ala D183A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALS2CR4 Asp191Ala D191A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALX1 Gln220Stop Q220X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ALX3 Gln122Arg Q122R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - AMACR Phe315Tyr F315Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - AMACR Ala145Val A145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AMBN His294Gln H294Q not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.082 - - -1 - 0 N - - AMBP Gly5Arg G5R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - AMDHD1 Glu154Asp E154D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - AMDHD1 Pro360His P360H not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 5 Y 1 - 3 - - AMDHD2 Glu524Ala E524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AMIGO1 Pro449Ser P449S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - 3 - 2 N - - AMIGO2 Ile444Val I444V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AMIGO2 Val90Leu V90L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AMIGO2 Cys20Phe C20F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 4 Y 2 N - - AMOTL1 Ser225Asn S225N not reviewed Insufficiently evaluated not reviewed unknown Array 56 10426 0.00537119 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AMOTL2 Ala520Val A520V not reviewed Insufficiently evaluated not reviewed unknown Array 65 10752 0.00604539 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 1 - 1 - - AMPD1 Thr111Asn T111N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AMPH Arg290Trp R290W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - AMTN Gly177Val G177V not reviewed Insufficiently evaluated not reviewed unknown Array rs61755875 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.355 - - 8 Y 1 N - - AMY2A Thr178Ser T178S not reviewed Insufficiently evaluated not reviewed unknown Array rs1143394 283 7732 0.0366011 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 5 - - AMY2B Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - AMZ1 Gly399Asp G399D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AMZ1 Arg439Cys R439C not reviewed Insufficiently evaluated not reviewed unknown Array 113 10746 0.0105155 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - AMZ1 Thr444Met T444M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10748 0.00102345 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - AMZ2 His273Arg H273R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AMZ2 His331Arg H331R not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANAPC5 Arg503Trp R503W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANAPC5 Arg615Trp R615W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - ANAPC5 Ala448Thr A448T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANAPC5 Ala560Thr A560T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - ANAPC7 Gly548Glu G548E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANAPC7 Asp154Ala D154A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANG Lys84Glu K84E not reviewed Insufficiently evaluated not reviewed unknown Array rs17560 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 9 - - ANGEL1 Asp510Gly D510G not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - ANGPT1 Pro76Leu P76L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - ANGPTL3 Ile199Thr I199T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - ANGPTL4 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANGPTL4 Arg278Gln R278Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35061979 207 10756 0.0192451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ANGPTL5 Ser303Pro S303P not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANK1 Asp45Glu D45E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y -2 - 3 - 1 - - ANK1 Thr1625Ala T1625A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - Y 1 - 2 N - - ANK1 Thr1666Ala T1666A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - Y 1 - 2 N - - ANK2 Asp470Asn D470N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ANK2 Asp491Asn D491N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.406 Y - -1 - 2 N - - ANK2 Arg2055Gly R2055G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ANK2 Ile2993Met I2993M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ANK2 Lys3400Glu K3400E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ANK2 Thr3450Arg T3450R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ANK2 Ile1475Thr I1475T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ANK2 Ile1484Thr I1484T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ANK2 Ile3569Thr I3569T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ANK2 Leu1646Ile L1646I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ANK2 Leu1655Ile L1655I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ANK2 Leu3740Ile L3740I not reviewed Insufficiently evaluated not reviewed unknown Array rs35530544 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ANK3 Val3228Leu V3228L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732399 142 10758 0.0131995 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANK3 Ser2973Pro S2973P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANK3 Thr2920Ala T2920A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANK3 Val2018Gly V2018G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANK3 Lys16Arg K16R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ANK3 Lys882Arg K882R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ANK3 Gln516Stop Q516X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANKAR Lys423Ile K423I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKAR Lys888Glu K888E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKAR Leu902Phe L902F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKAR Gly994Asp G994D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKAR Pro1273Ser P1273S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKAR Gln1348Leu Q1348L not reviewed Insufficiently evaluated not reviewed unknown Array 217 10758 0.020171 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKDD1A His53Pro H53P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - ANKFN1 Ile498Val I498V not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKFN1 Thr592Ile T592I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - ANKFN1 Ile696Thr I696T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ANKH Ala413Thr A413T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - ANKHD1 Glu400Gly E400G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKHD1 Glu411Gly E411G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKHD1 Glu1024Ala E1024A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKHD1 Asn2453Ser N2453S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKHD1-EIF4EBP3 Glu411Gly E411G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKHD1-EIF4EBP3 Glu1024Ala E1024A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKHD1-EIF4EBP3 Asn2453Ser N2453S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKK1 Glu587Stop E587X not reviewed Insufficiently evaluated not reviewed unknown Array 72 10348 0.00695787 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANKK1 Ser670Gly S670G not reviewed Insufficiently evaluated not reviewed unknown Array rs56006094 331 10304 0.0321234 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ANKLE1 Arg12Trp R12W not reviewed Insufficiently evaluated not reviewed unknown Array 62 8216 0.00754625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKLE1 Ala428Thr A428T not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKMY2 Glu423Lys E423K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ANKRA2 Leu163Ile L163I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRA2 Pro28Ser P28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ANKRD11 Ser1885Asn S1885N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD11 Ala1193Thr A1193T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD12 Ser852Leu S852L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD12 Ser875Leu S875L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10738 0.00596014 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD12 Asp1018Gly D1018G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ANKRD12 Asp995Gly D995G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD12 Asn1330Asp N1330D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD12 Asn1353Asp N1353D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -1 - 0 N - - ANKRD12 Thr1680Ala T1680A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD12 Thr1703Ala T1703A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD13A Thr454Ala T454A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ANKRD13A Thr536Ala T536A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ANKRD13A Thr547Arg T547R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ANKRD13C Ser322Gly S322G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ANKRD16 Leu153Pro L153P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - 7 Y 1 N - - ANKRD17 Thr1901Ile T1901I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD17 Thr2152Ile T2152I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - ANKRD17 Ser1343Gly S1343G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD17 Ser1594Gly S1594G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD17 Glu919Gly E919G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 6 Y 1 N - - ANKRD23 His215Arg H215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ANKRD23 Ala201Gly A201G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - 1 - 0 N - - ANKRD26 Glu993Ala E993A not reviewed Insufficiently evaluated not reviewed unknown Array rs61745662 229 9722 0.0235548 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD26 Lys620Glu K620E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD29 Asp203Glu D203E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10530 0.000664767 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ANKRD30A Thr85Met T85M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737412 715 9842 0.0726478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKRD30A Gly557Arg G557R not reviewed Insufficiently evaluated not reviewed unknown Array 5 9448 0.000529212 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD33 Arg432Gln R432Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD35 Asn53Lys N53K not reviewed Insufficiently evaluated not reviewed unknown Array rs6658371 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 3 - 2 - - ANKRD35 Leu599Pro L599P not reviewed Insufficiently evaluated not reviewed unknown Array 288 10754 0.0267807 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD35 Ile920Thr I920T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10748 0.00716412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - ANKRD35 Asn978Asp N978D not reviewed Insufficiently evaluated not reviewed unknown Array rs16827032 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 1 N - - ANKRD36B Gly153Ala G153A not reviewed Insufficiently evaluated not reviewed unknown Array 2 24 0.0833333 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - ANKRD42 Val386Ile V386I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD43 Arg494Gln R494Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ANKRD44 Ile595Thr I595T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD5 Pro74Thr P74T not reviewed Insufficiently evaluated not reviewed unknown Array rs7260784 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - ANKRD5 Ser355Asn S355N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - ANKRD50 Gly1314Arg G1314R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD50 Phe1253Leu F1253L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD50 Phe1253Cys F1253C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD53 Ser91Arg S91R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD54 Val123Ala V123A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ANKRD55 Ile223Met I223M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - ANKS6 Arg574Gln R574Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - ANKS6 Arg153Gln R153Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ANLN Lys476Glu K476E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ANO10 Asp139Asn D139N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - ANO10 Gln25Pro Q25P not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - ANO2 Lys600Arg K600R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10426 0.00172645 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ANO3 Ala105Thr A105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANO3 Phe637Tyr F637Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - -4 - 0 N - - ANO6 Leu859Pro L859P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANO6 Leu877Pro L877P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - ANO6 Arg878Gln R878Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO6 Arg896Gln R896Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 0 - 1 N - - ANO7 Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ANO7 Arg578Cys R578C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ANO7 Val604Ile V604I not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ANP32B Asp251Glu D251E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANP32C Gln137Lys Q137K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.083 - - -2 - 0 N - - ANP32D Asn127Ile N127I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.632 - - 7 Y 1 N - - ANTXR2 Val270Ile V270I not reviewed Insufficiently evaluated not reviewed unknown Array 87 9458 0.00919856 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.005 - Y -4 - 1 N - - ANXA1 Asp135Gly D135G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 4 Y 1 N - - ANXA11 Ser301Cys S301C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - ANXA11 Met133Ile M133I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10682 0.00018723 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANXA13 Ala261Val A261V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ANXA13 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANXA4 Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ANXA5 Ser246Gly S246G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - ANXA6 His508Asn H508N not reviewed Insufficiently evaluated not reviewed unknown Array 36 10296 0.0034965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.89 - - 0 - 2 N - - ANXA9 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.368 - - 2 - 1 N - - ANXA9 Thr114Ala T114A not reviewed Insufficiently evaluated not reviewed unknown Array rs7536645 190 10758 0.0176613 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AOC2 Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - -4 - 0 N - - AOC2 Arg273Gln R273Q not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - AOC2 Asp527Gly D527G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - AOC3 Val431Met V431M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.465 - - 0 - 1 N - - AOF1 Met416Leu M416L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AOF1 Pro470Ser P470S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AOX1 Ala336Thr A336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AOX1 Arg830His R830H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AOX1 Lys854Arg K854R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AOX1 Glu1146Gly E1146G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AP1G1 Met297Val M297V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.641 - - 0 - 1 N - - AP1G1 Met300Val M300V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AP1GBP1 Phe441Tyr F441Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AP2A1 Arg945His R945H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP2A1 Arg967His R967H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10010 9.99e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - AP2B1 Asp932Gly D932G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.179 - - 4 Y 0 N - - AP2B1 Asp946Gly D946G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AP3B1 Ile775Lys I775K not reviewed Insufficiently evaluated not reviewed unknown Array 89 10740 0.00828678 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - AP3B1 Glu681Gly E681G not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - AP3B2 Leu809Ser L809S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AP3D1 Lys759Asn K759N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP3D1 Lys850Asn K850N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP3D1 Pro550Ser P550S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AP3D1 Pro641Ser P641S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 3 - 0 N - - AP4B1 Val300Leu V300L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - AP4S1 Arg28Cys R28C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - APAF1 Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - APAF1 Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - APAF1 Thr435Ser T435S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - APAF1 Thr446Ser T446S not reviewed Insufficiently evaluated not reviewed unknown Array 163 10756 0.0151543 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - APBA2 Cys319Tyr C319Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - APBA3 His539Arg H539R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - APBB1IP Val411Ile V411I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.122 - - -4 - 0 N - - APC Ile983Thr I983T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y 3 - 2 N - - APC Lys1454Glu K1454E not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.849 Y Y 0 - 4 - 5 - - APC Pro2065Leu P2065L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y Y 7 Y 4 N - - APC Ala2648Glu A2648E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.486 Y Y 3 - 3 N - - APC2 Ala466Thr A466T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - APCDD1 Arg487Gln R487Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.267 - - 0 - 1 N - - APCDD1 Cys503Trp C503W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.739 - - 7 Y 1 N - - APCDD1L Glu412Stop E412X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - APCDD1L Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10030 0.000897308 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.226 - - 1 - 1 N - - APCDD1L Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10022 0.00219517 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.553 - - 7 Y 1 N - - APEH Asn243Asp N243D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - APEH Arg466Gln R466Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - APEX1 Thr313Ala T313A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 2 N - - APLP2 Glu218Lys E218K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.643 - - 0 - 1 N - - APOA1 Ala61Thr A61T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - APOA4 Ala333Val A333V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - APOA5 Val153Met V153M not reviewed Insufficiently evaluated not reviewed unknown Array rs3135507 528 10758 0.0490798 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOB Leu4506Pro L4506P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - APOB Thr2882Ile T2882I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - APOB Asp2299His D2299H not reviewed Insufficiently evaluated not reviewed unknown Array rs12713681 68 10756 0.00632205 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - APOB Phe1261Leu F1261L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - APOB Thr999Ala T999A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - APOB Ala251Thr A251T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 4 - - APOB48R Glu61Ala E61A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - APOB48R Arg174Gly R174G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - APOB48R Pro215Arg P215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOB48R Gly458Cys G458C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APOB48R Ala644Val A644V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOB48R Gln675Arg Q675R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOB48R Ala721Val A721V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOB48R Gln798Pro Q798P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOBEC3B Ser109Ala S109A not reviewed Insufficiently evaluated not reviewed unknown Array rs17000697 25 10750 0.00232558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - APOBEC3B Arg212His R212H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10714 9.3335e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOBEC3B Glu342Asp E342D not reviewed Insufficiently evaluated not reviewed unknown Array 46 10710 0.00429505 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - -2 - 2 - 1 - - APOBEC3C Ser188Ile S188I not reviewed Insufficiently evaluated not reviewed unknown Array 279 10758 0.0259342 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - APOBEC3F Tyr307Cys Y307C not reviewed Insufficiently evaluated not reviewed unknown Array rs12157816 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 1 - 3 - - APOBEC4 Asn321Asp N321D not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - APOBEC4 Ser196Cys S196C not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - APOD Val76Leu V76L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - APOF Ala178Gly A178G not reviewed Insufficiently evaluated not reviewed unknown Array rs11575216 54 10172 0.00530869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - APOH Asp184Asn D184N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - -1 - 1 N - - APOH Thr149Met T149M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOH Leu134Pro L134P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.824 - - 7 Y 1 N - - APOH Tyr97His Y97H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - APOL1 Asn111Lys N111K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL1 Asn77Lys N77K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL1 Asn95Lys N95K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL1 Gly112Arg G112R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOL1 Gly78Arg G78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOL1 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs41297245 518 10758 0.0481502 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOL3 Phe31Leu F31L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL4 His338Gln H338Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL4 His341Gln H341Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL4 Arg318Gln R318Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - APOL4 Arg321Gln R321Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - APOL4 Lys107Arg K107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOL4 Lys110Arg K110R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOL4 Lys107Glu K107E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL4 Lys110Glu K110E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL4 Met94Ile M94I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL4 Met97Ile M97I not reviewed Insufficiently evaluated not reviewed unknown Array 330 10282 0.0320949 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOL4 Arg31Cys R31C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APOL4 Arg34Cys R34C not reviewed Insufficiently evaluated not reviewed unknown Array 357 10664 0.0334771 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APOL5 Ser89Thr S89T not reviewed Insufficiently evaluated not reviewed unknown Array rs41283201 377 10758 0.0350437 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.579 - - -2 - 1 N - - APOL6 Tyr172Cys Y172C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - APP Ser483Gly S483G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - APP Ser539Gly S539G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - APP Ser558Gly S558G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - APP Ser595Gly S595G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - APP Ser614Gly S614G not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - APPBP2 Leu299Phe L299F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - APPL1 Asp334Glu D334E not reviewed Insufficiently evaluated not reviewed unknown Array rs61735096 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -2 - 3 - 1 - - APPL2 Thr540Ala T540A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 1 N - - AQP6 Ala243Pro A243P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.656 - - 2 - 1 N - - AQP8 Thr61Met T61M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - AR Gln91Lys Q91K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 10 - - AR Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 10 - - AR Glu642Lys E642K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ARAF His156Tyr H156Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - -1 - 3 - 1 - - ARAP1 Pro1077Ser P1077S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARAP1 Pro1322Ser P1322S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - ARAP1 Gln531His Q531H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARAP1 Gln592His Q592H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARAP1 Gln837His Q837H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - ARAP2 Thr1524Ser T1524S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARAP2 Gln1119Arg Q1119R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.439 - - 0 - 1 N - - ARAP2 Gly858Glu G858E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.758 - - 6 Y 1 N - - ARAP2 Asn234Ser N234S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.478 - - 0 - 1 N - - ARAP3 Thr745Ala T745A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ARFGAP1 Val9Phe V9F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - ARFGAP1 Thr331Ala T331A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - ARFGAP1 Thr339Ala T339A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARFGAP2 Arg406Trp R406W not reviewed Insufficiently evaluated not reviewed unknown Array rs35950498 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 2 - - ARFGAP2 Val142Ile V142I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - ARFGEF1 Lys1104Arg K1104R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARFGEF1 Ser636Pro S636P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - ARFGEF1 Gln371Arg Q371R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARFGEF2 Met197Val M197V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ARFGEF2 Asp521Gly D521G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ARG1 Lys266Asn K266N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - ARG2 Arg351Cys R351C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ARGFX Thr196Ile T196I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750878 340 10758 0.0316044 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - ARGFX Ser216Leu S216L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 2 N - - ARGLU1 Lys115Stop K115X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARHGAP1 Glu327Asp E327D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ARHGAP1 Ser196Arg S196R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP10 Glu621Gln E621Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - -2 - 0 N - - ARHGAP11A Asn576Ser N576S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ARHGAP11A Asp710Glu D710E not reviewed Insufficiently evaluated not reviewed unknown Array 8 10728 0.000745712 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - -2 - 1 N - - ARHGAP11A Asp865Gly D865G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - ARHGAP12 Asp314His D314H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.379 - - 3 - 1 N - - ARHGAP15 Gln326Arg Q326R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ARHGAP15 Gly411Glu G411E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - ARHGAP17 Asn705Ile N705I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP17 Asn783Ile N783I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 7 Y 2 N - - ARHGAP17 Ala702Val A702V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP17 Ala780Val A780V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 0 N - - ARHGAP17 His667Asp H667D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP17 His745Asp H745D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 3 - 2 N - - ARHGAP17 Asp504Gly D504G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 4 Y 2 N - - ARHGAP17 Gly490Glu G490E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 6 Y 1 N - - ARHGAP17 Tyr124Cys Y124C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ARHGAP18 Arg265Gly R265G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.23 - - 6 Y 1 N - - ARHGAP18 Lys248Arg K248R not reviewed Insufficiently evaluated not reviewed unknown Array rs34706122 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -3 - 0 N - - ARHGAP19 Ile393Thr I393T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - ARHGAP19 Lys390Arg K390R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - -3 - 1 N - - ARHGAP19 Leu101Pro L101P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 7 Y 2 N - - ARHGAP21 Gly1121Ser G1121S not reviewed Insufficiently evaluated not reviewed unknown Array 260 10758 0.0241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP22 Glu605Gly E605G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ARHGAP23 Pro1106Leu P1106L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP23 Asp1179Glu D1179E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP24 Gln158Arg Q158R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ARHGAP24 Gln63Arg Q63R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP24 Gln65Arg Q65R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP26 Leu112Pro L112P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 3 - 2 - - ARHGAP27 Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP27 Thr153Ala T153A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP28 Thr545Ala T545A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP28 Gly558Ser G558S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP29 Glu1137Gly E1137G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - ARHGAP29 Arg955His R955H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - ARHGAP29 Glu387Asp E387D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.349 - - -2 - 1 N - - ARHGAP30 Gly595Asp G595D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGAP4 Met176Val M176V not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP5 Glu1364Gly E1364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP5 Glu1365Gly E1365G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ARHGAP5 Ala1405Thr A1405T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP5 Ala1406Thr A1406T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 1 - 2 N - - ARHGAP8 Val253Met V253M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP8 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP8 Ala327Val A327V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP8 Ala358Val A358V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP8 Val357Ala V357A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP8 Val388Ala V388A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP9 Arg491Trp R491W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP9 Arg675Trp R675W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP9 Ala362Thr A362T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP9 Ala546Thr A546T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP9 Thr34Ile T34I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.734 - - 3 - 1 N - - ARHGEF10 Lys323Arg K323R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARHGEF10 Met664Thr M664T not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - ARHGEF10 Val700Ile V700I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294039 334 10758 0.0310467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 6 - - ARHGEF10 Ser1246Leu S1246L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGEF10L Val404Ala V404A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF10L Val443Ala V443A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF10L Trp952Gly W952G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - ARHGEF10L Trp991Gly W991G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - ARHGEF10L Asp1119Glu D1119E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ARHGEF10L Asp1158Glu D1158E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 1 - 1 - - ARHGEF10L His1192Asn H1192N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF10L His1231Asn H1231N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ARHGEF11 Met1280Thr M1280T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF11 Met1320Thr M1320T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF11 Leu874Phe L874F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF11 Leu914Phe L914F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF11 Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF15 Gln821His Q821H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - -1 - 1 N - - ARHGEF16 Ala249Thr A249T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF16 Gln312His Q312H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ARHGEF16 Lys449Asn K449N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 1 - 1 N - - ARHGEF17 Ser13Thr S13T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - -2 - 1 N - - ARHGEF17 Arg951Trp R951W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - ARHGEF17 Ser1037Phe S1037F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 5 Y 1 N - - ARHGEF18 Asp151Asn D151N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGEF18 Asp309Asn D309N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ARHGEF19 Glu713Asp E713D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ARHGEF5 Phe1568Leu F1568L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARID1A Val700Ala V700A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.386 - - 2 - 1 N - - ARID1A Ala1539Ser A1539S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - ARID1A Pro1568Ser P1568S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.401 - - 3 - 1 N - - ARID1A Glu1586Gly E1586G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARID1A Glu1803Gly E1803G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.469 - - 6 Y 1 N - - ARID1B Ser1811Cys S1811C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARID1B Ser1824Cys S1824C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARID1B Ser1864Cys S1864C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARID2 Val1420Ile V1420I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARID2 Gln1717Arg Q1717R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 1 N - - ARID3A Ala212Val A212V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARID3B Arg447Ser R447S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ARID3B Arg447Leu R447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ARID3C Thr99Asn T99N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ARID4A Met949Val M949V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ARIH2 Glu57Asp E57D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - ARIH2 Asn203Ser N203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARIH2 Lys440Arg K440R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - ARIH2 Gln447Arg Q447R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ARL11 Pro69Leu P69L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - ARL13B Leu306Met L306M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - ARL13B Leu413Met L413M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 - Y -3 - 1 N - - ARL13B Ser314Gly S314G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - ARL13B Ser421Gly S421G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - ARL6IP4 Lys220Arg K220R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARL6IP4 Lys231Arg K231R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - -3 - 1 N - - ARL6IP4 Lys239Arg K239R not reviewed Insufficiently evaluated not reviewed unknown Array 1127 10652 0.105802 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.675 - - -3 - 0 N - - ARL6IP5 Ser138Trp S138W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ARL9 Lys63Gln K63Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ARMC1 Glu215Gly E215G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - ARMC2 Asp169Asn D169N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARMC7 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ARMC7 Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 181 10724 0.016878 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ARMC9 Gln449Arg Q449R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ARMCX3 Ser70Gly S70G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - ARMCX5 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARMCX5 Glu311Gly E311G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - 6 Y 2 N - - ARMS2 Arg38Stop R38X not reviewed Insufficiently evaluated not reviewed unknown Array rs2736911 1231 10176 0.120971 20 0 22 4 4 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 - 4 - - ARNT Pro667Ser P667S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARNT Pro682Ser P682S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 3 - 1 N - - ARNT2 Arg65Stop R65X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARNT2 Lys507Arg K507R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.178 - - -3 - 0 N - - ARNTL Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARNTL2 Glu296Asp E296D not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - ARPP-21 Ser68Arg S68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - ARPP19 Lys31Asn K31N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ARR3 Pro305Gln P305Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.704 - - 4 Y 1 N - - ARRDC1 Leu329Phe L329F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ARRDC1 Arg342Trp R342W not reviewed Insufficiently evaluated not reviewed unknown Array 134 10752 0.0124628 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - ARRDC1 Gly363Arg G363R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.354 - - 6 Y 2 - 1 - - ARRDC4 Arg391Trp R391W not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ARSB Ile350Val I350V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - -4 - 1 N - - ARSD Trp331Stop W331X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARSE Ile53Val I53V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733256 322 8761 0.0367538 5 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - ARSF Ile200Val I200V not reviewed Insufficiently evaluated not reviewed unknown Array 261 8761 0.0297911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARSG Arg264Gln R264Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ARSI Thr5Ser T5S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - -2 - 2 - 10 - - ARSJ Ser565Arg S565R not reviewed Insufficiently evaluated not reviewed unknown Array rs17046588 81 9554 0.00847812 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - ART1 Thr101Ile T101I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ART1 Pro191Thr P191T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ART3 Ile102Val I102V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ART3 Asn333Ser N333S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ART3 Asn344Ser N344S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - 0 - 1 N - - ART3 Phe364Ser F364S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ART3 Phe375Ser F375S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ART3 Phe386Ser F386S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ART5 Ser271Thr S271T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10606 0.00264001 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARVCF Glu97Stop E97X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARVCF Gly53Asp G53D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - 4 Y 2 N - - AS3MT Ile136Thr I136T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASAH1 Asp118Glu D118E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ASAH1 Asp124Glu D124E not reviewed Insufficiently evaluated not reviewed unknown Array 365 10756 0.0339345 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ASAH1 Asp140Glu D140E not reviewed Insufficiently evaluated not reviewed unknown Array rs2472205 5 124 0.0403226 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ASAH1 Ser36Asn S36N not reviewed Insufficiently evaluated not reviewed unknown Array rs13263632 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - ASAM Leu151Phe L151F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASAP1 Arg339Trp R339W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ASAP2 Val805Ile V805I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASAP2 Val850Ile V850I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - ASAP3 Asp627Tyr D627Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ASAP3 Asp636Tyr D636Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.199 - - 7 Y 0 N - - ASB10 Arg438Cys R438C not reviewed Insufficiently evaluated not reviewed unknown Array 100 10698 0.00934754 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - ASB10 Arg460Cys R460C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - ASB10 Arg498Cys R498C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - ASB10 Ser6Arg S6R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - ASB11 Cys277Tyr C277Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASB11 Cys298Tyr C298Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 6 Y 2 N - - ASB12 Gly206Asp G206D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 1 - 1 - - ASB15 Met69Ile M69I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASB16 Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASB2 Val537Ile V537I not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - -4 - 1 N - - ASB2 Ser20Thr S20T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ASB3 Cys222Ser C222S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASB3 Cys295Ser C295S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 3 - 2 N - - ASB3 Leu132Pro L132P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - ASB3 Leu59Pro L59P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 2 N - - ASB4 Tyr241Cys Y241C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.794 - - 6 Y 1 N - - ASB8 Arg260His R260H not reviewed Insufficiently evaluated not reviewed unknown Array rs75959434 392 10758 0.036438 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - ASCC1 Arg249Ser R249S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASCC1 Asp34His D34H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 3 - 3 - 1 - - ASCC2 Ile343Thr I343T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 3 - 2 N - - ASCC2 Tyr97Cys Y97C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.554 - - 6 Y 1 N - - ASCC3 Arg1674Cys R1674C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ASCL3 Arg22His R22H not reviewed Insufficiently evaluated not reviewed unknown Array rs36020286 204 10758 0.0189626 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ASF1B Glu25Gly E25G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ASH1L Lys2472Arg K2472R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ASH1L Ser575Ala S575A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.175 - - -1 - 0 N - - ASH1L Lys205Glu K205E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - ASH1L Ile116Thr I116T not reviewed Insufficiently evaluated not reviewed unknown Array 137 10756 0.0127371 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - ASH2L Lys324Asn K324N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ASH2L Lys418Asn K418N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 1 - 3 - 1 - - ASH2L Arg498Cys R498C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ASH2L Arg592Cys R592C not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - 8 Y 1 N - - ASL Met342Thr M342T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ASL Met348Thr M348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ASL Met368Thr M368T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 2 - 3 N - - ASNA1 Val48Ala V48A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - ASNS Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ASPDH Ala165Asp A165D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - ASPDH Ala270Asp A270D not reviewed Insufficiently evaluated not reviewed unknown Array 177 10200 0.0173529 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - ASPH Ser285Asn S285N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASPH Ser299Asn S299N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASPM Arg2842Trp R2842W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ASPM Gln2013Glu Q2013E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ASPM Gln1914Arg Q1914R not reviewed Insufficiently evaluated not reviewed unknown Array 51 10752 0.0047433 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ASPM Ala1877Thr A1877T not reviewed Insufficiently evaluated not reviewed unknown Array 75 10752 0.00697545 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ASPM Phe684Leu F684L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ASPM Ala663Ser A663S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10756 0.00641502 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ASPM Ser650Cys S650C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ASPM Thr336Lys T336K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10700 9.3457e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ASPM Cys302Tyr C302Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ASPM Asn282His N282H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ASPRV1 Lys252Arg K252R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - -3 - 2 N - - ASPSCR1 Pro215Leu P215L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ASPSCR1 Glu465Val E465V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - ASS1 Arg108Leu R108L not reviewed Insufficiently evaluated not reviewed unknown Array rs35269064 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 6 Y 3 - 2 - - ASTE1 Tyr606His Y606H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASTE1 Arg48Gln R48Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 0 - 2 N - - ASTN1 Lys737Arg K737R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ASTN1 Asn199Asp N199D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - ASXL1 Arg336Lys R336K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -3 - 2 N - - ASZ1 Asn316Ser N316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - ASZ1 Thr33Lys T33K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATAD1 Asp42Gly D42G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 3 - 1 - - ATAD2 Asp1371Gly D1371G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 2 N - - ATAD2 Arg1365Leu R1365L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 6 Y 1 N - - ATAD2 Val1210Leu V1210L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATAD2 Lys1178Ile K1178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATAD2 Leu1147Pro L1147P not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATAD2 Val864Ala V864A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATAD2 Ser702Pro S702P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 3 - 0 N - - ATAD2 Lys664Thr K664T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - ATAD2 Ser541Pro S541P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ATAD3A Ser101Asn S101N not reviewed Insufficiently evaluated not reviewed unknown Array rs1619896 1 9306 0.000107457 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 1 - 2 - - ATAD3A Pro359Ser P359S not reviewed Insufficiently evaluated not reviewed unknown Array 275 10758 0.0255624 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - ATAD3B Ala332Thr A332T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 1 - 0 N - - ATAD3B Arg386Gln R386Q not reviewed Insufficiently evaluated not reviewed unknown Array 2339 10586 0.220952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 1 N - - ATAD3C Val28Leu V28L not reviewed Insufficiently evaluated not reviewed unknown Array 16 3234 0.00494743 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.148 - - 0 - 0 N - - ATAD3C Ala52Val A52V not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ATAD3C Met312Ile M312I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - -1 - 0 N - - ATAD5 Leu344Phe L344F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ATAD5 Met454Val M454V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ATAD5 Met1325Ile M1325I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ATCAY Ala335Val A335V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - ATE1 Ile211Met I211M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATF3 Ser68Arg S68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 3 - 2 N - - ATF5 Gln262Leu Q262L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATF6B Thr466Ala T466A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATF6B Thr469Ala T469A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATF7 Thr295Ser T295S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATF7 Thr316Ser T316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATF7 Thr327Ser T327S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATF7IP2 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 3 - 1 - - ATF7IP2 Thr275Ala T275A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - ATF7IP2 Phe317Leu F317L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG10 Asp81Gly D81G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - ATG12 Ile62Phe I62F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATG16L2 Gly492Arg G492R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATG2A Val740Met V740M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ATG2A Val175Ile V175I not reviewed Insufficiently evaluated not reviewed unknown Array rs12293826 623 10758 0.0579104 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - ATG2B Thr940Met T940M not reviewed Insufficiently evaluated not reviewed unknown Array 16 9582 0.0016698 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATG4C Lys444Arg K444R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10742 0.00167567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATG5 Met129Val M129V not reviewed Insufficiently evaluated not reviewed unknown Array rs34793250 34 10752 0.0031622 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG7 Trp147Arg W147R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ATG9B Leu923Arg L923R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATHL1 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array 107 3230 0.0331269 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 1 - - ATHL1 Pro712Leu P712L not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 7 Y 1 N - - ATIC Thr380Ile T380I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - 3 - 1 - 2 - - ATIC Ala557Val A557V not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 2 - 1 - 2 - - ATL1 Leu274Ser L274S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ATL3 Gly501Arg G501R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10154 0.00246208 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 6 Y 0 N - - ATM Gly134Arg G134R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - ATM Thr761Ser T761S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 2 - - ATM Met812Val M812V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATM Asp894Gly D894G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ATM Glu1313Gln E1313Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 2 - - ATM His1624Arg H1624R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 2 - - ATM His276Arg H276R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ATM Arg1265Gly R1265G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ATM Arg2613Gly R2613G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ATMIN Ile559Met I559M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATN1 Asp1187Glu D1187E not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATOH8 Ser206Phe S206F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 1 N - - ATP10A Pro1360Leu P1360L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10754 0.00139483 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ATP10A Glu234Gly E234G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ATP10B Ile1148Val I1148V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734662 111 10148 0.0109381 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - ATP10D Arg13Gln R13Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ATP10D Cys171Arg C171R not reviewed Insufficiently evaluated not reviewed unknown Array rs7683838 1496 10758 0.139059 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.848 - - 8 Y 0 N - - ATP10D Asn654Asp N654D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - ATP10D Ala731Thr A731T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 1 - 0 N - - ATP10D Val752Ala V752A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - ATP10D Tyr1145His Y1145H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.801 - - -1 - 1 N - - ATP10D Ala1172Thr A1172T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - ATP10D Ser1390Phe S1390F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATP11B Gln747Arg Q747R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ATP12A Pro1009Leu P1009L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP13A1 Glu556Gln E556Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - ATP13A2 Val386Ile V386I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ATP13A2 Val391Ile V391I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.813 Y - -4 - 2 N - - ATP13A2 Glu337Gly E337G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.073 Y - 6 Y 1 N - - ATP13A2 Glu342Gly E342G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - ATP13A2 Gly158Arg G158R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ATP13A3 Ala30Val A30V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9784 0.000102207 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP13A4 Asp71Gly D71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 2 N - - ATP13A5 Gly856Arg G856R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ATP1A2 Ile204Asn I204N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.521 Y Y 7 Y 3 N - - ATP1A2 Thr671Ala T671A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - ATP1A4 Tyr535Cys Y535C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 6 Y 0 N - - ATP1B2 Gln241Stop Q241X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP2A2 Asn852Ser N852S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ATP2A2 Asn879Ser N879S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.012 Y - 0 - 1 N - - ATP2A2 Gly967Ala G967A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATP2A2 Gly994Ala G994A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - ATP2A3 Cys1032Ser C1032S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP2A3 Asp800Glu D800E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 3 - 4 - - ATP2A3 Arg572Lys R572K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP2B1 Leu435Phe L435F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - ATP2B2 Ile816Met I816M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP2B2 Ile861Met I861M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ATP2B3 Ala312Val A312V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ATP2B3 Glu746Gly E746G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.485 - - 6 Y 1 N - - ATP2B3 Arg1170His R1170H not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP2B4 Phe925Leu F925L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP4B Asp205Glu D205E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - ATP5D Val16Leu V16L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5J2 Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - ATP5O Asn107Lys N107K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ATP5S Leu197Ile L197I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATP6V0A1 Val282Ala V282A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 2 - 1 N - - ATP6V0A1 Val289Ala V289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP6V0A4 Thr462Ala T462A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATP6V0E2 Thr204Met T204M not reviewed Insufficiently evaluated not reviewed unknown Array rs10234446 440 10106 0.0435385 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ATP6V1A Asp134Asn D134N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 Y - -1 - 1 N - - ATP6V1B1 Gly14Ser G14S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ATP6V1B1 Thr343Ala T343A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATP6V1E2 Leu143Val L143V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - ATP6V1E2 Arg44His R44H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.648 - - 1 - 1 N - - ATP6V1G3 Thr77Ala T77A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - ATP6V1H Leu373Ser L373S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATP6V1H Leu391Ser L391S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ATP6V1H Asn369Ser N369S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP6V1H Asn387Ser N387S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ATP7A Val767Leu V767L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2227291 2228 8756 0.254454 24 0 35 1 1 - - - - - - - - - - - - Y - - Y - Y Y 0 - 4 N 9 - - ATP7B Pro1145Leu P1145L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ATP7B Pro1352Leu P1352L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - ATP8A1 Asp1147Asn D1147N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP8A1 Asp1162Asn D1162N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP8A1 Gln1132Stop Q1132X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP8A1 Gln1147Stop Q1147X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP8A1 Val429Ile V429I not reviewed Insufficiently evaluated not reviewed unknown Array rs61755862 254 10756 0.0236147 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP8B1 Ala1154Val A1154V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.576 Y Y 2 - 3 N - - ATP8B1 Thr584Ile T584I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ATP8B1 Ala571Thr A571T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - ATP8B1 Gln515Lys Q515K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.555 Y Y -2 - 3 N - - ATP8B1 Val180Ala V180A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 2 - 4 N - - ATP8B2 Met304Ile M304I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP8B2 Met337Ile M337I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP8B2 Met954Leu M954L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP8B3 Val553Leu V553L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - ATP8B4 Ala882Ser A882S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - ATP9B Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP9B Tyr299Phe Y299F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - -4 - 2 N - - ATP9B Arg561Trp R561W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.775 - - 7 Y 1 N - - ATP9B Arg561Gln R561Q not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - ATP9B Ala571Thr A571T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP9B Gln883Leu Q883L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ATPAF1 Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ATPAF2 Arg265His R265H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ATPBD4 Lys87Arg K87R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATPBD4 Tyr50His Y50H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - ATPBD4 Gly41Glu G41E not reviewed Insufficiently evaluated not reviewed unknown Array rs34907758 264 10756 0.0245444 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATR Val959Met V959M not reviewed Insufficiently evaluated not reviewed unknown Array rs28910271 235 10758 0.0218442 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - ATR Val316Ile V316I not reviewed Insufficiently evaluated not reviewed unknown Array rs28897764 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.92 - - -4 - 3 - 1 - - ATR Cys234Arg C234R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 8 Y 3 - 1 - - ATRIP Val456Met V456M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATRIP Gln681His Q681H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - ATRN Asp1174Ala D1174A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - ATRNL1 Val587Ala V587A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - ATRNL1 Cys1022Trp C1022W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ATRX Glu1316Asp E1316D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATRX Glu1354Asp E1354D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATXN1 Gln208His Q208H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ATXN2 Tyr1058His Y1058H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ATXN7L3 Lys309Asn K309N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATXN7L3 Lys316Asn K316N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AURKA Asn395Ser N395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AUTS2 Pro169Ser P169S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - AUTS2 Tyr947Stop Y947X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AUTS2 Tyr971Stop Y971X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AVIL Thr290Ala T290A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - AVL9 Val120Leu V120L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.484 - - 0 - 1 N - - AVL9 Leu183Pro L183P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 7 Y 2 N - - AVPI1 Glu117Lys E117K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 1 - 1 - - AVPI1 Ser27Leu S27L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 1 - 1 - - AVPR2 Thr360Ala T360A not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.841 Y Y 1 - 3 N - - AXIN1 Arg765Ser R765S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AXIN1 Arg801Ser R801S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - AXIN2 Met685Val M685V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.066 Y - 0 - 1 N - - AXL Ala14Thr A14T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - AZI1 Ala1006Ser A1006S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AZI1 Ala1042Ser A1042S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AZI1 Arg906Gln R906Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AZI1 Arg942Gln R942Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AZI1 Lys888Arg K888R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AZI1 Lys924Arg K924R not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AZI1 Arg611Trp R611W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AZI1 Val473Gly V473G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - AZI1 Gly287Arg G287R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AZI1 Thr272Pro T272P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - AZI1 Leu229Pro L229P not reviewed Insufficiently evaluated not reviewed unknown Array 192 10758 0.0178472 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AZI1 Pro41Ser P41S not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AZU1 Gly54Ala G54A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.811 - - 1 - 1 N - - AZU1 Arg236Stop R236X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - B3GALNT2 Arg496Gln R496Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B3GALNT2 Tyr51Cys Y51C not reviewed Insufficiently evaluated not reviewed unknown Array rs61742900 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.93 - - 6 Y 2 N - - B3GALT5 His116Arg H116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - B3GALTL Glu35Gly E35G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - B3GALTL Gly325Arg G325R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 6 Y 4 N - - B3GAT1 Phe221Ser F221S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - B3GAT2 Ala133Val A133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - B3GAT3 Thr274Asn T274N not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - B3GNT1 Tyr222Phe Y222F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - -4 - 0 N - - B3GNT5 Val264Ile V264I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - -4 - 2 N - - B3GNTL1 Asn297Ser N297S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - B3GNTL1 Asp44Asn D44N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - B3GNTL1 Cys36Tyr C36Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - B4GALNT2 Ala108Val A108V not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - B4GALNT2 Ala22Val A22V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - B4GALNT2 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - B4GALNT2 Arg408Stop R408X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - B4GALNT2 Arg434Stop R434X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - B4GALNT2 Arg494Stop R494X not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - B4GALNT3 Ile506Val I506V not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - B4GALNT3 Arg748Trp R748W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - B4GALNT4 Ala67Gly A67G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.448 - - 1 - 2 - 2 - - B4GALNT4 Ala67Glu A67E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - 3 - 2 - 2 - - B4GALNT4 Asn430Ser N430S not reviewed Insufficiently evaluated not reviewed unknown Array 286 10734 0.0266443 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B4GALT3 Arg366His R366H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 1 - 2 N - - B4GALT5 Asp368His D368H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - BACH1 Ser148Pro S148P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 3 - 2 N - - BACH1 Asn192Ser N192S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BACH1 Glu243Asp E243D not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -2 - 3 - 1 - - BACH1 Ser314Pro S314P not reviewed Insufficiently evaluated not reviewed unknown Array 295 10756 0.0274266 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BACH2 Ala418Thr A418T not reviewed Insufficiently evaluated not reviewed unknown Array 64 10706 0.00597796 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - BAG4 Gln239Arg Q239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - BAGE Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - BAGE2 Cys102Tyr C102Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAGE3 Cys102Tyr C102Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - BAGE4 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAGE5 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAHCC1 Lys411Thr K411T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAHCC1 Glu1109Gly E1109G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAHCC1 Arg1430Gln R1430Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAHCC1 Arg1695Gln R1695Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAHCC1 Thr1735Ala T1735A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAI2 Glu1371Asp E1371D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744431 258 10504 0.0245621 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.32 - - -2 - 1 N - - BAI3 Thr495Met T495M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - BAI3 Ala764Thr A764T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAIAP3 Arg854Gln R854Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 1 N - - BAIAP3 Arg983Gln R983Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10722 0.000186532 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - BAMBI Asp111Asn D111N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 3 - 2 - - BANF2 Gly4Glu G4E not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BANF2 Arg62Gly R62G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.041 - - 6 Y 0 N - - BANF2 Arg69Gly R69G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAP1 Thr613Met T613M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - BARD1 Val695Asp V695D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - BARD1 Val695Leu V695L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.244 - - 0 - 2 - 10 - - BARHL1 Thr63Ile T63I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT2 Ala1222Val A1222V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2 Leu1450Pro L1450P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAT2 His1470Asp H1470D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT2 Asp1766Val D1766V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - BAT2D1 Ser2045Gly S2045G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2L Pro981Arg P981R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - BAT2L Val1220Ile V1220I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BAT2L Lys1418Asn K1418N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAT3 Gln190Glu Q190E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BATF3 Lys89Arg K89R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - BAZ1A Glu874Gly E874G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAZ1A Glu906Gly E906G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 6 Y 2 N - - BAZ1A Thr516Ala T516A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - BAZ1A Thr548Ala T548A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 1 - 2 N - - BAZ1B Lys588Stop K588X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BAZ1B Lys392Arg K392R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -3 - 0 N - - BAZ1B Thr244Ala T244A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 1 - 2 N - - BAZ2A Glu1512Lys E1512K not reviewed Insufficiently evaluated not reviewed unknown Array 147 10136 0.0145028 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BBS1 Leu59Val L59V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.73 Y Y 0 - 3 N - - BBS1 Val582Ile V582I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - BBS10 Ala636Val A636V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 2 - 4 N - - BBS10 Leu562Ile L562I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y -2 - 4 N - - BBS12 Asn461His N461H not reviewed Insufficiently evaluated not reviewed unknown Array rs10027479 327 10758 0.030396 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 0 - 4 N - - BBS12 Ser616Asn S616N not reviewed Insufficiently evaluated not reviewed unknown Array rs28507107 357 10758 0.0331846 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.5 Y Y 0 - 3 N - - BBS12 Leu623Pro L623P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.933 Y Y 7 Y 4 N - - BBS2 Phe469Ser F469S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 5 Y 4 N - - BBS2 Thr262Ile T262I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 3 - 4 N - - BBS4 Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.289 Y Y 7 Y 3 N - - BBS4 Phe326Leu F326L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 0 - 4 N - - BBS4 Leu351Pro L351P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 N - - BBS7 Glu659Gln E659Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y Y -2 - 2 N - - BBS7 Glu435Gly E435G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.012 Y Y 6 Y 2 N - - BCAM Leu243Met L243M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10746 0.00148893 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.898 Y - -3 - 3 N - - BCAR1 Ala768Pro A768P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCAR1 Ala612Val A612V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCAR1 Ala416Thr A416T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR3 Glu210Lys E210K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.323 - - 0 - 1 N - - BCAR3 Arg98Gln R98Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - BCAR3 Gln96His Q96H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - -1 - 1 N - - BCAR3 Arg38Cys R38C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - BCCIP Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - BCHE Glu283Asp E283D not reviewed Insufficiently evaluated not reviewed unknown Array rs16849700 296 10758 0.0275144 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BCL11A Phe63Leu F63L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - BCL2 Ser222Gly S222G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCL2L12 Arg247Cys R247C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BCL2L12 Arg248Cys R248C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - BCL2L13 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array rs2587070 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCL2L13 Pro435Leu P435L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 1 - 1 - - BCL2L14 Gln191Arg Q191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - BCL6 Asp543Gly D543G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.505 - - 4 Y 1 N - - BCL6 Glu164Asp E164D not reviewed Insufficiently evaluated not reviewed unknown Array rs61752081 260 10758 0.0241681 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - BCL9 His668Tyr H668Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BCL9 Arg1225Pro R1225P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BCL9L Pro193Leu P193L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - BCLAF1 Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - BCLAF1 Arg107Gln R107Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCMO1 Lys200Glu K200E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - BCO2 Ile53Asn I53N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCO2 Ile87Asn I87N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCO2 Ser481Pro S481P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCO2 Ser515Pro S515P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCO2 Pro489Gln P489Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCO2 Pro523Gln P523Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCOR Val1084Gly V1084G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - BCOR Val1102Gly V1102G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 8 Y 2 N - - BCORL1 Arg1293Gly R1293G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - BCR Ile456Asn I456N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCS1L Asn332Lys N332K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - BDKRB1 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 8 Y 0 N - - BDP1 Thr209Ser T209S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9404 0.000106337 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - BDP1 Arg504Ser R504S not reviewed Insufficiently evaluated not reviewed unknown Array 68 9720 0.00699588 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 1 - 2 - - BDP1 Arg1022Lys R1022K not reviewed Insufficiently evaluated not reviewed unknown Array 44 9582 0.00459194 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - -3 - 2 N - - BDP1 Val2204Phe V2204F not reviewed Insufficiently evaluated not reviewed unknown Array 2 9624 0.000207813 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - BECN1 Gly65Stop G65X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BEND7 Thr368Ala T368A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BEND7 Phe304Leu F304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BEND7 Phe317Leu F317L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BEND7 Met130Thr M130T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BEND7 Met143Thr M143T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BEST1 Val432Ile V432I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - BEST1 Val492Ile V492I not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - BEX5 Val16Glu V16E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.487 - - 5 Y 1 N - - BFSP1 Asp656Glu D656E not reviewed Insufficiently evaluated not reviewed unknown Array rs16999317 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 5 - - BFSP2 Ala407Asp A407D not reviewed Insufficiently evaluated not reviewed unknown Array 441 10758 0.0409927 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.148 - - 5 Y 0 N - - BHLHB9 Ala129Ser A129S not reviewed Insufficiently evaluated not reviewed unknown Array 13 8761 0.00148385 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - BHLHE22 Gly225Ser G225S not reviewed Insufficiently evaluated not reviewed unknown Array 9 7612 0.00118234 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BHLHE40 Met271Val M271V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BHMT Arg108Gln R108Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.324 - - 0 - 1 N - - BHMT Pro197Ser P197S not reviewed Insufficiently evaluated not reviewed unknown Array rs60947960 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - BHMT2 Leu147Trp L147W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - BHMT2 Thr218Met T218M not reviewed Insufficiently evaluated not reviewed unknown Array rs60797063 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - BICC1 Arg800Gln R800Q not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - BICD1 Lys438Glu K438E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BICD1 Arg868His R868H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BICD2 Cys542Arg C542R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - BID Leu19Pro L19P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 9 - - BID Leu65Pro L65P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 10 - - BIN1 Thr348Arg T348R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 3 - 3 N - - BIN1 Thr378Arg T378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr393Arg T393R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr414Arg T414R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr421Arg T421R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr436Arg T436R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr445Arg T445R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr457Arg T457R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr489Arg T489R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BIN1 Thr532Arg T532R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.242 Y - 3 - 2 N - - BIN2 Lys403Asn K403N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - BIN2 Gly342Ser G342S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - BIN3 Phe198Leu F198L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.42 - - 0 - 2 - 4 - - BIRC2 Lys340Glu K340E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - BIRC2 Met453Ile M453I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.364 - - -1 - 1 N - - BIRC5 Arg108Trp R108W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BIRC6 Met2119Val M2119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BIRC6 Ser2212Gly S2212G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BIRC7 Arg12His R12H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BIRC8 Asp127Asn D127N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BIRC8 Arg120Gly R120G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BLK Ala71Thr A71T not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 10 - - BLK Leu320Pro L320P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 3 - 2 - - BLM Asp329Gly D329G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - BLNK Arg224Trp R224W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BLNK Arg247Trp R247W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - BLOC1S2 Lys33Arg K33R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BLOC1S2 Lys76Arg K76R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - -3 - 2 N - - BLOC1S2 Asp14His D14H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10744 0.00018615 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - BLVRB Gly143Asp G143D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.658 - - 4 Y 1 N - - BLZF1 His45Arg H45R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - 1 - 1 N - - BLZF1 Arg258His R258H not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - BMP15 Ser5Arg S5R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - BMP15 Asn289Ser N289S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - 0 - 1 N - - BMP2 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.837 - - 0 - 2 - 1 - - BMP2K Arg288Cys R288C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - BMP6 Ser160Phe S160F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10540 9.4876e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 5 Y 1 N - - BMP8B Leu378Pro L378P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - BMPR1B Asp297Glu D297E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.87 - - -2 - 2 N - - BMPR2 Asn29Ser N29S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BMPR2 Lys678Glu K678E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y 0 - 4 N - - BMS1 Ile537Phe I537F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BMS1 Val587Leu V587L not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BNC1 Ser851Asn S851N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - BNC2 Gly900Val G900V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 8 Y 2 N - - BNC2 Glu761Gly E761G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - BNIP1 Ser87Pro S87P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BNIP2 Asn310Tyr N310Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BNIP3 Arg78Ser R78S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - BNIPL Glu260Lys E260K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BNIPL Glu342Lys E342K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - BOC Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array rs34208374 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 1 - 5 - - BOD1 Val119Met V119M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - BOD1L Thr2628Ala T2628A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BOD1L Arg1753His R1753H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - BOD1L Asp596Gly D596G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.724 - - 4 Y 1 N - - BOLA1 Arg87Gly R87G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - BPHL Arg263Trp R263W not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - BPI Pro225Thr P225T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BPI Gly481Ser G481S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BPIL1 Thr282Ile T282I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.638 - - 3 - 1 N - - BPIL2 Ala283Ser A283S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BPNT1 Gly176Cys G176C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BPTF Asp1168Gly D1168G not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BPTF Asp1294Gly D1294G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BPTF Glu1240Gly E1240G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BPTF Glu1366Gly E1366G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BPTF Val1673Ile V1673I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BPTF Val1799Ile V1799I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BPTF Ala2266Gly A2266G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BPTF Ala2392Gly A2392G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRCA1 Glu528Gly E528G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Glu534Gly E534G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Glu575Gly E575G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 6 Y 2 N - - BRCA1 Lys454Arg K454R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - BRCA1 Lys460Arg K460R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - BRCA1 Lys501Arg K501R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y -3 - 2 N - - BRCA2 Ser158Pro S158P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BRCA2 Asn1805Ser N1805S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 3 - - BRCA2 Val2138Phe V2138F not reviewed Insufficiently evaluated not reviewed unknown Array 33 10732 0.00307492 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 6 - - BRCA2 Ala2698Thr A2698T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BRCA2 Cys2765Tyr C2765Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA2 Ile3412Val I3412V not reviewed Insufficiently evaluated not reviewed unknown Array rs1801426 407 10758 0.0378323 6 0 6 1 1 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 10 - - BRD1 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRD2 Gly612Asp G612D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BRD4 Glu1284Lys E1284K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRD7 Gly280Val G280V not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BRD8 Glu1040Gly E1040G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 6 Y 0 N - - BRD8 Gln979Lys Q979K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - BRD8 Leu896Pro L896P not reviewed Insufficiently evaluated not reviewed unknown Array rs6883021 264 10758 0.0245399 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.048 - - 7 Y 0 N - - BRD8 Lys738Arg K738R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRD8 Lys844Arg K844R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.634 - - -3 - 1 N - - BRD8 Lys917Arg K917R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRD8 Met694Val M694V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRD8 Met800Val M800V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - BRD8 Met873Val M873V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRD9 Lys286Arg K286R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRD9 Lys349Arg K349R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRD9 Lys402Arg K402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.611 - - -3 - 1 N - - BRDT Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRDT Arg274Lys R274K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BRDT Thr940Ala T940A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRF2 Ser19Trp S19W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - BRIP1 Asp1210Gly D1210G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - BRIP1 Ser1106Pro S1106P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 3 - 2 N - - BRIP1 Arg965Gly R965G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.876 Y Y 6 Y 4 N - - BRIP1 Ile746Val I746V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -4 - 2 N - - BRIP1 Gln608Arg Q608R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BRIP1 His314Arg H314R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - BRP44 Leu96Pro L96P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - BRS3 Ser37Asn S37N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - BRUNOL6 Gln354Arg Q354R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRWD1 Val1987Ala V1987A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - BRWD1 Ile1818Val I1818V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BRWD1 Ser1605Gly S1605G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - BRWD1 Gly818Stop G818X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BRWD2 Tyr82His Y82H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BRWD2 Leu552Ile L552I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BRWD3 Val257Ile V257I not reviewed Insufficiently evaluated not reviewed unknown Array 15 8761 0.00171213 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - BSN Thr1232Ile T1232I not reviewed Insufficiently evaluated not reviewed unknown Array 130 10686 0.0121654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - BSN Arg1945Gln R1945Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - BSN Arg3428Gln R3428Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BSPRY Lys156Asn K156N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 2 - 2 - - BST1 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 0 - 1 N - - BST1 Gly239Arg G239R not reviewed Insufficiently evaluated not reviewed unknown Array rs34163939 273 10758 0.0253765 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - BTAF1 Ala451Thr A451T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 2 N - - BTBD1 Ser399Arg S399R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - BTBD1 Val370Asp V370D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTBD10 Ala281Val A281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - BTBD10 Val224Ala V224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 2 - 2 N - - BTBD12 Pro1526Ser P1526S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTBD12 Ser1508Leu S1508L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTBD12 Gly874Ser G874S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD12 Lys462Arg K462R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BTBD12 Ser393Asn S393N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTBD12 Met386Val M386V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTBD12 Ile86Met I86M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BTBD16 Arg342Trp R342W not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - BTBD2 Asp515Glu D515E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - -2 - 2 - 1 - - BTBD7 Ser515Phe S515F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - BTD Arg211His R211H not reviewed Insufficiently evaluated not reviewed recessive Array 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y - - - 0.402 Y Y 1 - 3 N - - BTG3 Val159Ala V159A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - BTG3 Val203Ala V203A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTG4 Pro214Ser P214S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - BTK Cys633Stop C633X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - BTLA Asn149Thr N149T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTLA Asn197Thr N197T not reviewed Insufficiently evaluated not reviewed unknown Array 172 10756 0.0159911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTN2A2 Ser151Ala S151A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - BTN2A2 Ser267Ala S267A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - -1 - 1 N - - BTN2A2 Ser232Asn S232N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN2A2 Ser348Asn S348N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 1 N - - BTN3A1 Ala196Val A196V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - BTN3A2 Arg300Gln R300Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN3A3 Pro385Thr P385T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTN3A3 Pro427Thr P427T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - BTNL3 Thr384Arg T384R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10492 0.00285932 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTNL8 Leu118Arg L118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTNL8 Leu127Arg L127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTNL8 Leu243Arg L243R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.089 - - 6 Y 0 N - - BTNL8 Leu59Arg L59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTNL8 Thr279Ser T279S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTNL8 Thr338Ser T338S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTNL8 Thr347Ser T347S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTNL8 Thr463Ser T463S not reviewed Insufficiently evaluated not reviewed unknown Array 8 9246 0.000865239 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - BTNL9 Asp3Glu D3E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - -2 - 1 N - - BTNL9 Ile111Met I111M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.207 - - -1 - 1 N - - BUB1 Lys958Asn K958N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 1 - 1 N - - BUB1 Tyr671His Y671H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - BUB1 Val581Ile V581I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.154 - - -4 - 0 N - - BUB3 Ser254Pro S254P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 3 - 2 N - - BUD13 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BUD13 Arg384Gln R384Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - BVES Ser231Leu S231L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 6 Y 2 N - - BXDC1 Gly60Ser G60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BZRAP1 Gly1097Val G1097V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BZRAP1 Gly1157Val G1157V not reviewed Insufficiently evaluated not reviewed unknown Array 314 10722 0.0292856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - BZRAP1 His1033Arg H1033R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BZRAP1 His1093Arg H1093R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BZRAP1 Gln420His Q420H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BZRAP1 Gln480His Q480H not reviewed Insufficiently evaluated not reviewed unknown Array rs61747227 135 10746 0.0125628 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BZRAP1 Ala344Val A344V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BZRAP1 Ala404Val A404V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - BZRAP1 Thr28Ile T28I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 3 - 1 - - C10ORF111 Gly125Ser G125S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF116 Asp55His D55H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF118 Glu532Gly E532G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF119 Gln622Arg Q622R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF119 Tyr563Cys Y563C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF119 Ala349Val A349V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF120 Leu279Ile L279I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF122 Glu38Gln E38Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9422915 26 3234 0.00803958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - C10ORF129 Lys76Asn K76N not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF129 Ile223Thr I223T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF137 Tyr55Cys Y55C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF137 Lys603Thr K603T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF141 Asp429Gly D429G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF18 Leu213Phe L213F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF26 Ile23Val I23V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF26 Ile44Val I44V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF27 Met334Ile M334I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF4 Ser283Arg S283R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF4 Ser12Gly S12G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF68 Gln79Lys Q79K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF68 Gly159Glu G159E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF71 Gly265Cys G265C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF71 Val522Gly V522G not reviewed Insufficiently evaluated not reviewed unknown Array rs61453891 334 10164 0.0328611 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF79 Asp1460His D1460H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF79 Met1123Thr M1123T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF79 Leu543Pro L543P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF79 Val467Met V467M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF79 Gln285Arg Q285R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF81 Ser8Gly S8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF88 Pro422Ser P422S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF90 Cys642Ser C642S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF91 Thr27Arg T27R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF91 Glu144Gly E144G not reviewed Insufficiently evaluated not reviewed unknown Array rs11146376 368 10588 0.0347563 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF92 Gln83His Q83H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF92 Tyr14Cys Y14C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF93 Val339Met V339M not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C10ORF93 Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF93 Arg281Cys R281C not reviewed Insufficiently evaluated not reviewed unknown Array 286 10758 0.0265849 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF93 Lys191Glu K191E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF20 Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9830 0.000203458 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF24 Val396Met V396M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF34 Gly180Ala G180A not reviewed Insufficiently evaluated not reviewed unknown Array 72 3234 0.0222635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF34 Phe165Ser F165S not reviewed Insufficiently evaluated not reviewed unknown Array 53 3234 0.0163884 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF35 Glu129Asp E129D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C11ORF40 Asp66Gly D66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C11ORF42 Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF42 Val77Gly V77G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C11ORF45 Thr97Ala T97A not reviewed Insufficiently evaluated not reviewed unknown Array 265 10758 0.0246328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF48 Ser27Gly S27G not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF54 Gly106Arg G106R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10744 0.00232688 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF54 Asp232Gly D232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C11ORF60 Thr280Met T280M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF60 Lys225Glu K225E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF63 His486Arg H486R not reviewed Insufficiently evaluated not reviewed unknown Array rs33999612 272 10758 0.0252835 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF66 Gln158Pro Q158P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C11ORF80 Ile209Thr I209T not reviewed Insufficiently evaluated not reviewed unknown Array 78 9570 0.00815047 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF82 Pro371Leu P371L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF88 Ser60Gly S60G not reviewed Insufficiently evaluated not reviewed unknown Array 18 10590 0.00169972 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF11 Glu555Asp E555D not reviewed Insufficiently evaluated not reviewed unknown Array rs34036164 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF12 Glu293Lys E293K not reviewed Insufficiently evaluated not reviewed unknown Array 289 10758 0.0268637 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF24 Ser188Pro S188P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF26 Arg218Thr R218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF26 Arg232Gly R232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF26 Phe262Ile F262I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF26 Ser348Thr S348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF29 Lys233Thr K233T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF30 Ser437Gly S437G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF35 His79Arg H79R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF35 Ser613Gly S613G not reviewed Insufficiently evaluated not reviewed unknown Array 67 10756 0.00622908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF35 Asn631Asp N631D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF35 Ser981Leu S981L not reviewed Insufficiently evaluated not reviewed unknown Array 62 10754 0.0057653 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF35 Ser1505Pro S1505P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF36 Asp136Gly D136G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C12ORF4 Thr444Ala T444A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF4 Phe8Leu F8L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF42 Ser79Arg S79R not reviewed Insufficiently evaluated not reviewed unknown Array 40 9450 0.0042328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF43 Gln59His Q59H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF48 Arg327Lys R327K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C12ORF49 Arg40Gly R40G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF50 Thr253Met T253M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF51 Lys482Glu K482E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF51 Asn60Ser N60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF56 Ser289Arg S289R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF59 Arg52His R52H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF63 Lys224Arg K224R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C12ORF63 Val769Leu V769L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF63 Arg901Trp R901W not reviewed Insufficiently evaluated not reviewed unknown Array 102 10736 0.00950074 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C12ORF63 Ser1126Asn S1126N not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF68 Asp179Glu D179E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF69 Val176Ile V176I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732281 172 10074 0.0170737 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C12ORF74 Lys29Arg K29R not reviewed Insufficiently evaluated not reviewed unknown Array 132 9766 0.0135163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C13ORF1 Val5Leu V5L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF18 Gly509Ser G509S not reviewed Insufficiently evaluated not reviewed unknown Array 165 10752 0.015346 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C13ORF23 Leu481Pro L481P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C13ORF23 Leu503Pro L503P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C13ORF23 Ser405Pro S405P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C13ORF23 Ser427Pro S427P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C13ORF26 Tyr186Stop Y186X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C13ORF27 Tyr78His Y78H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C13ORF28 Gly140Ser G140S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C13ORF31 Glu156Gly E156G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C13ORF37 Ala73Val A73V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF101 Met477Thr M477T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF104 Ala244Glu A244E not reviewed Insufficiently evaluated not reviewed unknown Array 8 8926 0.000896258 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - C14ORF104 Glu243Ala E243A not reviewed Insufficiently evaluated not reviewed unknown Array 33 8838 0.00373388 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - C14ORF105 Ala166Ser A166S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF106 Gly847Val G847V not reviewed Insufficiently evaluated not reviewed unknown Array rs35141317 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF106 Val567Ile V567I not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF106 Asp529Gly D529G not reviewed Insufficiently evaluated not reviewed unknown Array rs61741577 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF106 Cys164Arg C164R not reviewed Insufficiently evaluated not reviewed unknown Array rs1269008 80 10756 0.00743771 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF115 Cys412Tyr C412Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF115 Asn485Asp N485D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF118 Glu3Gly E3G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF118 Glu173Stop E173X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C14ORF118 Ala355Val A355V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF126 Asn133Thr N133T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF135 Asp640Asn D640N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF135 Lys719Glu K719E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF143 Asp31Gly D31G not reviewed Insufficiently evaluated not reviewed unknown Array rs34486581 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - C14ORF145 Val1059Met V1059M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744330 892 10758 0.082915 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF147 Tyr53Cys Y53C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF149 Lys208Arg K208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C14ORF159 Cys304Arg C304R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF159 Cys316Arg C316R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF159 Cys321Arg C321R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF159 Asp512Asn D512N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - C14ORF159 Ala516Pro A516P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF159 Ala521Pro A521P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF166 Lys62Arg K62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C14ORF169 Pro285Leu P285L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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1 N - - C14ORF80 Met157Ile M157I not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF80 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF80 Ala296Thr A296T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF80 Ala329Thr A329T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10230 9.7751e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF2 Asn282Ser N282S not reviewed Insufficiently evaluated not reviewed unknown Array rs7165533 345 10758 0.0320692 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C15ORF2 Asn323Lys N323K not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF2 Pro516Ser P516S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - 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- - - - - - 3 - 1 N - - C15ORF33 Ser92Leu S92L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF39 Ala329Thr A329T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF39 Thr670Met T670M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF42 Ser415Asn S415N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF42 Thr467Ile T467I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF42 Ala1841Thr A1841T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF43 Leu69Val L69V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - 3 - 1 N - - C17ORF70 Arg513Trp R513W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF70 Arg664Trp R664W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10702 0.000280321 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF70 Arg111Gly R111G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF70 Arg262Gly R262G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF71 Gly426Asp G426D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF71 His545Arg H545R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF74 Thr63Ile T63I not reviewed Insufficiently evaluated not reviewed unknown Array 79 10002 0.00789842 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF85 Ala388Val A388V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF90 Pro28Gln P28Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10452 0.00612323 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF91 Phe14Ser F14S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C17ORF95 Ile38Thr I38T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF98 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array rs7210156 778 9852 0.0789687 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 2 - - C18ORF1 Ile145Val I145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF1 Ile163Val I163V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF1 Ile166Val I166V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF1 Ile184Val I184V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF1 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF1 Ile221Val I221V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF10 Val65Ala V65A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C18ORF19 Pro112Ala P112A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 6 Y 1 N - - C18ORF51 Arg93Cys R93C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C18ORF54 Arg147Pro R147P not reviewed Insufficiently evaluated not reviewed unknown Array rs1657907 755 10758 0.0701803 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C18ORF54 Ser339Asn S339N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF8 Phe468Leu F468L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C19ORF15 Val1076Met V1076M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF2 Ala233Ser A233S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF2 Ala273Ser A273S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF21 Tyr31His Y31H not reviewed Insufficiently evaluated not reviewed unknown Array rs35093527 221 10746 0.0205658 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF21 Ser269Asn S269N not reviewed Insufficiently evaluated not reviewed unknown Array rs35384259 784 10758 0.072876 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C19ORF21 Pro492Leu P492L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF21 Arg512Gly R512G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF28 Gly454Ser G454S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10610 0.000565504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF36 Asn24Lys N24K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF36 Phe38Leu F38L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C19ORF38 Leu121Val L121V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF39 Leu45Phe L45F not reviewed Insufficiently evaluated not reviewed unknown Array rs34156839 197 10758 0.018312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF44 Val263Ile V263I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C19ORF44 Ala582Thr A582T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF46 Ala159Glu A159E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF48 Val7Ile V7I not reviewed Insufficiently evaluated not reviewed unknown Array rs7251816 204 10758 0.0189626 2 0 2 0 0 - 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1 N - - C1GALT1 Arg180Gly R180G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - C1ORF103 Thr255Ile T255I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF104 Arg231Ser R231S not reviewed Insufficiently evaluated not reviewed unknown Array rs16836822 181 9972 0.0181508 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C1ORF105 Thr162Ile T162I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF107 Pro277Arg P277R not reviewed Insufficiently evaluated not reviewed unknown Array rs61745236 112 10758 0.0104109 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF107 Leu720Phe L720F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF111 Asp78Glu D78E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - 5 Y 1 N - - C1ORF116 Ser2Phe S2F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF116 Thr107Pro T107P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - C1ORF116 Thr107Ser T107S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - C1ORF116 Arg94Trp R94W not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF123 Leu54Gln L54Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF125 Arg574Leu R574L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF125 Glu851Asp E851D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - 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- - 0 - 2 - 2 - - C1ORF175 Thr352Met T352M not reviewed Insufficiently evaluated not reviewed unknown Array rs12074499 253 10440 0.0242337 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - C1ORF175 Val512Met V512M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10534 0.000379722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF175 Ala946Ser A946S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF177 Ser57Cys S57C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF183 Ser272Leu S272L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF183 Ser287Leu S287L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF2 Gly179Glu G179E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF2 Gly83Glu G83E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF201 Thr177Ala T177A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF210 Asn2Ser N2S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF212 Val167Leu V167L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF220 Ser118Leu S118L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF226 Gly157Val G157V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF226 Gly200Val G200V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1ORF87 His137Asn H137N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF88 Pro90Leu P90L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF9 Leu388Val L388V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF9 Leu432Val L432V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF92 Lys181Arg K181R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C1ORF94 Leu111Phe L111F not reviewed Insufficiently evaluated not reviewed unknown Array 22 3234 0.00680272 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF96 Ala123Val A123V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10744 0.0003723 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C1QB Val182Met V182M not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C1QBP Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - C1QC Lys57Arg K57R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - -3 - 1 N - - C1QL1 Ile221Val I221V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - C1QTNF1 Arg167Pro R167P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1QTNF1 Arg249Pro R249P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 1 - - C1QTNF3 His86Tyr H86Y not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1QTNF6 Met38Ile M38I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1QTNF7 Thr220Ala T220A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 2 N - - C1QTNF7 Thr227Ala T227A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1R Glu184Gln E184Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - C1RL Leu303Val L303V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 3 - 1 - - C1RL Phe302Leu F302L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - C20ORF103 Asp12Gly D12G not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF103 Pro226Leu P226L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF106 Pro107Ser P107S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF106 Val159Leu V159L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF111 Glu255Gly E255G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF112 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF114 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF114 Leu234Pro L234P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF114 Thr464Ser T464S not reviewed Insufficiently evaluated not reviewed unknown Array rs17856249 396 10758 0.0368098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C20ORF12 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF132 Arg640Gln R640Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF135 Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF135 Tyr384Cys Y384C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9580 0.000104384 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF151 Lys615Asn K615N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF151 Ala437Thr A437T not reviewed Insufficiently evaluated not reviewed unknown Array rs35290016 55 10594 0.00519162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - C20ORF151 Arg126Gln R126Q not reviewed Insufficiently evaluated not reviewed unknown Array 130 10748 0.0120953 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF151 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10738 0.0010244 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF152 Arg514Gln R514Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF152 Lys516Asn K516N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF152 Ala562Thr A562T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF165 Val169Ile V169I not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF166 Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array 181 10722 0.0168812 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF166 Glu22Lys E22K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF166 Arg29Trp R29W not reviewed Insufficiently evaluated not reviewed unknown Array 2 6122 0.00032669 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF177 Gly310Ser G310S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF185 Ser59Leu S59L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF185 Ser394Leu S394L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF186 Thr285Met T285M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF186 Pro405Leu P405L not reviewed Insufficiently evaluated not reviewed unknown Array rs17122711 428 10758 0.0397843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - C20ORF194 Lys359Arg K359R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF195 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF195 Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF196 Cys124Phe C124F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF200 Pro72Ser P72S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF200 Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF26 Arg8Lys R8K not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF26 Leu196Pro L196P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF26 Phe200Leu F200L not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF26 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF26 Arg800Gln R800Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF39 Lys132Met K132M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF4 Val48Met V48M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF54 Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF54 Glu184Gly E184G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF54 Val167Ile V167I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF70 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs17124277 344 10758 0.0319762 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF70 Gly43Arg G43R not reviewed Insufficiently evaluated not reviewed unknown Array rs6059139 350 10758 0.0325339 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - C20ORF71 Ser82Thr S82T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C20ORF71 Ile108Met I108M not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF71 Ser109Stop S109X not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C20ORF85 Val136Met V136M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF94 Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF96 Arg342Ile R342I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF96 Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C20ORF96 Ile201Thr I201T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C21ORF2 Pro193Leu P193L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10738 9.3127e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C21ORF29 Val362Ile V362I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C21ORF33 His198Gln H198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - C21ORF33 His229Gln H229Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - C21ORF59 Thr273Ser T273S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C21ORF62 Gly146Arg G146R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10360 0.0007722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C21ORF63 Pro381Ser P381S not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C21ORF66 Asn649Asp N649D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C21ORF66 Gly582Ser G582S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C21ORF66 Thr344Ala T344A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF91 Ser224Leu S224L not reviewed Insufficiently evaluated not reviewed unknown Array 16 9870 0.00162107 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF24 Ala106Thr A106T not reviewed Insufficiently evaluated not reviewed unknown Array rs5994454 42 10136 0.00414365 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF25 Gln218Arg Q218R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF25 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF26 Pro28Arg P28R not reviewed Insufficiently evaluated not reviewed unknown Array rs12159707 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - C22ORF26 Pro28Ser P28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C22ORF29 Pro301Leu P301L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF29 Asn20Tyr N20Y not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C22ORF30 Thr1610Ala T1610A not reviewed Insufficiently evaluated not reviewed unknown Array 24 3234 0.00742115 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF30 Ala1509Ser A1509S not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C22ORF30 His1507Arg H1507R not reviewed Insufficiently evaluated not reviewed unknown Array 74 3234 0.0228819 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF30 Glu1305Gly E1305G not reviewed Insufficiently evaluated not reviewed unknown Array rs35027698 24 3234 0.00742115 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF30 Ser1151Pro S1151P not reviewed Insufficiently evaluated not reviewed unknown Array rs12159328 31 3234 0.00958565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C22ORF30 Asn320Ser N320S not reviewed Insufficiently evaluated not reviewed unknown Array 31 3234 0.00958565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF30 Ala197Thr A197T not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF36 Ser140Arg S140R not reviewed Insufficiently evaluated not reviewed unknown Array rs743370 226 10364 0.0218063 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C22ORF43 Leu218Val L218V not reviewed Insufficiently evaluated not reviewed unknown Array 190 9642 0.0197055 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF9 Leu212Pro L212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF9 Leu217Pro L217P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2CD2 Ala399Val A399V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2CD2 Ala554Val A554V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - C2CD2 Thr266Ala T266A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2CD2 Thr421Ala T421A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - C2CD2L Ala326Ser A326S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2CD3 Thr1917Lys T1917K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - C2CD3 Ala1777Glu A1777E not reviewed Insufficiently evaluated not reviewed unknown Array 234 10758 0.0217513 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.101 - - 3 - 0 N - - C2CD3 Gly1541Arg G1541R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - C2CD3 Asn1500Ser N1500S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - C2CD3 Val1421Ala V1421A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - C2ORF18 Ser132Leu S132L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF3 Pro32Ala P32A not reviewed Insufficiently evaluated not reviewed unknown Array rs7559767 735 10136 0.0725138 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C2ORF30 Lys220Arg K220R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C2ORF40 Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array rs10187689 260 10758 0.0241681 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF44 Ser278Phe S278F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF44 Ser98Arg S98R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF48 Gly146Arg G146R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF50 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF50 Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF51 Leu83Phe L83F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF53 Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF56 Glu172Gly E172G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF56 Arg200Stop R200X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C2ORF56 His222Tyr H222Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF56 His320Tyr H320Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF61 Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF63 Ala191Val A191V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF63 Ala313Val A313V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF65 Met61Thr M61T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF67 Tyr619His Y619H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF7 Phe82Leu F82L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF71 Pro989His P989H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF71 Lys732Arg K732R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C2ORF71 Ser534Ile S534I not reviewed Insufficiently evaluated not reviewed unknown Array 7 9912 0.000706214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF77 Pro501Ser P501S not reviewed Insufficiently evaluated not reviewed unknown Array 97 9700 0.01 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF78 Gly575Arg G575R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF78 Lys592Asn K592N not reviewed Insufficiently evaluated not reviewed unknown Array rs61015788 324 9688 0.0334434 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF80 Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 106 9518 0.0111368 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - C2ORF81 Pro404Ala P404A not reviewed Insufficiently evaluated not reviewed unknown Array 9 3232 0.00278465 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF83 Val83Ile V83I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C3 Asp1457His D1457H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.802 Y - 3 - 2 N - - C3 Trp1313Stop W1313X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - C3 Gly1267Arg G1267R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 6 Y 3 N - - C3 Pro663Leu P663L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.68 Y - 7 Y 3 - 2 - - C3ORF1 Thr80Met T80M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF17 Ile380Lys I380K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF17 Ile419Lys I419K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF17 Ile516Lys I516K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF17 Pro107Ser P107S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF17 Pro146Ser P146S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C3ORF17 Pro243Ser P243S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF18 Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF18 Thr70Met T70M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF19 Asp113Gly D113G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C3ORF24 Arg95Cys R95C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C3ORF25 Pro36Leu P36L not reviewed Insufficiently evaluated not reviewed unknown Array rs58932597 333 9770 0.0340839 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF26 Asn126Ser N126S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF30 Thr274Ile T274I not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF30 Pro423Ser P423S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C3ORF32 Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF32 Arg161Cys R161C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C3ORF32 Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array 198 10748 0.018422 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF32 Gly6Ala G6A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF33 Ser208Arg S208R not reviewed Insufficiently evaluated not reviewed unknown Array 192 9390 0.0204473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF38 Asn90Asp N90D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF38 Ser204Pro S204P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF39 Arg462Leu R462L not reviewed Insufficiently evaluated not reviewed unknown Array rs34083889 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF44 Thr267Ser T267S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C3ORF44 Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF44 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF44 Val111Glu V111E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C3ORF45 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF52 Ile111Val I111V not reviewed Insufficiently evaluated not reviewed unknown Array rs16859190 870 9656 0.0900994 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 2 - - C3ORF52 Gly189Ala G189A not reviewed Insufficiently evaluated not reviewed unknown Array 85 10012 0.00848981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF58 Asp291Gly D291G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C3ORF58 Asp82Gly D82G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C3ORF59 Phe178Leu F178L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF62 Phe56Ser F56S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C3ORF63 His275Arg H275R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF63 Lys109Glu K109E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF67 Glu343Gly E343G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF67 Gly258Arg G258R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF72 Pro135Ser P135S not reviewed Insufficiently evaluated not reviewed unknown Array 66 9518 0.00693423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF72 Ser167Ile S167I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C4ORF18 Met517Thr M517T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF18 Met525Thr M525T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF19 Asp37Asn D37N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C4ORF21 Leu259Pro L259P not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF23 Arg51His R51H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4ORF23 Ile63Val I63V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C4ORF23 Cys98Arg C98R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C4ORF31 Lys414Arg K414R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C4ORF33 Pro81Leu P81L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF33 Arg144Stop R144X not reviewed Insufficiently evaluated not reviewed unknown Array rs10009430 242 10756 0.0224991 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - C4ORF37 Arg292Gln R292Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF40 Val186Ala V186A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF41 Lys804Glu K804E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF42 Ser177Leu S177L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10756 0.00381183 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF43 Ser97Asn S97N not reviewed Insufficiently evaluated not reviewed unknown Array 169 9906 0.0170604 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF44 Tyr178His Y178H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746010 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - C4ORF49 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array rs3208941 580 10144 0.0571767 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF8 Glu161Gly E161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF8 Ser864Gly S864G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5 Gly585Cys G585C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 7 Y 2 - 5 - - C5 Asp494Glu D494E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -2 - 3 - 2 - - C5 Arg449Trp R449W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.201 - - 7 Y 2 - 2 - - C5 Ala252Thr A252T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10012 0.00129844 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 3 - 4 - - C5 Tyr23Cys Y23C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 9 - - C5AR1 Ser205Cys S205C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5AR1 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5AR1 Ser326Thr S326T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5ORF20 Arg196Cys R196C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C5ORF20 Ser135Cys S135C not reviewed Insufficiently evaluated not reviewed unknown Array rs67187482 1046 10758 0.09723 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C5ORF20 Lys119Arg K119R not reviewed Insufficiently evaluated not reviewed unknown Array 1086 10758 0.100948 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C5ORF20 Ser99Pro S99P not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF25 Leu155Pro L155P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF25 Thr241Arg T241R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF30 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5ORF34 Arg183Cys R183C not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C5ORF34 Val20Ala V20A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5ORF34 Met7Ile M7I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C5ORF35 Glu40Gly E40G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF36 Ser142Pro S142P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF37 Glu57Asp E57D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5ORF37 Glu82Asp E82D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5ORF38 Gly97Arg G97R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF42 Gly1960Arg G1960R not reviewed Insufficiently evaluated not reviewed unknown Array rs7702892 5 126 0.0396825 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF42 Pro1472Leu P1472L not reviewed Insufficiently evaluated not reviewed unknown Array rs16903518 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF42 Ala743Gly A743G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF42 Val275Ala V275A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5ORF43 Val26Ile V26I not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C5ORF45 Gln38Stop Q38X not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C5ORF52 Ser147Arg S147R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C5ORF53 Lys31Asn K31N not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF54 Met248Lys M248K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF55 Pro2Leu P2L not reviewed Insufficiently evaluated not reviewed unknown Array 449 10236 0.0438648 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6 Gln567His Q567H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - C6ORF1 Trp96Arg W96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF103 Glu604Asp E604D not reviewed Insufficiently evaluated not reviewed unknown Array rs61748896 167 3234 0.0516388 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C6ORF108 Ala134Gly A134G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF108 Ser128Leu S128L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF118 Arg385Gln R385Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17856754 632 10750 0.0587907 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C6ORF118 Arg166Leu R166L not reviewed Insufficiently evaluated not reviewed unknown Array rs36007498 107 10756 0.00994794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - C6ORF124 Gly107Val G107V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF126 Gly52Ser G52S not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF127 Phe15Cys F15C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - C6ORF138 Thr723Ala T723A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF141 Asp3Asn D3N not reviewed Insufficiently evaluated not reviewed unknown Array 23 3234 0.00711193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF141 Asp104Tyr D104Y not reviewed Insufficiently evaluated not reviewed unknown Array 24 3234 0.00742115 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF142 Thr302Ala T302A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF146 Cys360Ser C360S not reviewed Insufficiently evaluated not reviewed unknown Array rs17137618 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF146 Arg289His R289H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF146 Leu12Pro L12P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF15 Arg177Leu R177L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9174 0.000109003 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF165 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731441 1217 10758 0.113125 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C6ORF165 Arg584Trp R584W not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF167 Gln1206Arg Q1206R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF167 His1192Gln H1192Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF167 Met753Thr M753T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF167 Ser727Gly S727G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF167 Asn694Thr N694T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF167 Ser270Pro S270P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF170 Glu1232Ala E1232A not reviewed Insufficiently evaluated not reviewed unknown Array rs56300302 139 9712 0.0143122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF170 Pro888Leu P888L not reviewed Insufficiently evaluated not reviewed unknown Array 22 9624 0.00228595 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF182 Gln347Arg Q347R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF186 His158Pro H158P not reviewed Insufficiently evaluated not reviewed unknown Array 15 7820 0.00191816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF192 Phe242Ser F242S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF211 Asn192Asp N192D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF211 Glu227Lys E227K not reviewed Insufficiently evaluated not reviewed unknown Array rs34596084 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF218 Asp22Gly D22G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF222 Gln433His Q433H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF223 Thr205Asn T205N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF227 Gly87Val G87V not reviewed Insufficiently evaluated not reviewed unknown Array 255 10556 0.0241569 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF27 Arg680Gln R680Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28400004 2 98 0.0204082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF48 Arg3Ser R3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF52 Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - C6ORF62 Asp136Gly D136G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF64 Glu70Lys E70K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF70 Thr10Ala T10A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF81 His259Pro H259P not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF89 Ile323Met I323M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF97 Ala269Val A269V not reviewed Insufficiently evaluated not reviewed unknown Array rs12205837 919 9702 0.0947227 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - C7 Arg687His R687H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10246 0.000780792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 1 - 3 - - C7ORF16 Ala121Val A121V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF16 Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF27 Ala641Val A641V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10346 0.00222308 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF27 Gly576Arg G576R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - C7ORF27 Thr349Met T349M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF27 Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF31 Thr164Met T164M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF31 Gly124Arg G124R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10558 9.4714e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF33 Thr146Ile T146I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF38 His221Pro H221P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C7ORF45 Glu10Gly E10G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF46 Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF47 Pro228Ala P228A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF49 Gly130Val G130V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C7ORF50 Ser97Leu S97L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF50 Ala54Pro A54P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF52 Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10472 0.00410619 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C7ORF58 Ile326Thr I326T not reviewed Insufficiently evaluated not reviewed unknown Array rs17143165 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF58 Tyr486Cys Y486C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF63 Asp890Asn D890N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF63 Asp908Asn D908N not reviewed Insufficiently evaluated not reviewed unknown Array 5 9712 0.000514827 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF65 Trp126Arg W126R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF67 Lys161Gln K161Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C7ORF67 Pro169Leu P169L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8A Ile441Val I441V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C8G His124Asn H124N not reviewed Insufficiently evaluated not reviewed unknown Array rs17613 1725 10750 0.160465 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - C8G Glu199Lys E199K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.586 - - 0 - 1 N - - C8ORF31 Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF37 Lys15Thr K15T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF41 Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF47 Thr176Ala T176A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF48 Gln102Stop Q102X not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C8ORF48 Gly137Val G137V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C8ORF48 Arg243His R243H not reviewed Insufficiently evaluated not reviewed unknown Array 24 3234 0.00742115 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF58 Ala257Thr A257T not reviewed Insufficiently evaluated not reviewed unknown Array 86 10706 0.00803288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF58 His285Gln H285Q not reviewed Insufficiently evaluated not reviewed unknown Array 88 10728 0.00820283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8ORF58 Thr347Ser T347S not reviewed Insufficiently evaluated not reviewed unknown Array 220 10758 0.0204499 2 0 2 0 0 - 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- - - - - - - - - - - - -1 - 1 N - - C9ORF100 Arg226Cys R226C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C9ORF106 Arg49Stop R49X not reviewed Insufficiently evaluated not reviewed unknown Array 4 9860 0.000405679 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C9ORF106 Pro127Thr P127T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF114 Val340Ile V340I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF125 Leu369Pro L369P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF131 Arg55Lys R55K not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF131 Arg7Lys R7K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF131 Leu288Arg L288R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742475 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF131 Pro280Ser P280S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF131 Pro305Ser P305S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF131 Pro318Ser P318S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF131 Pro353Ser P353S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF139 Gly180Val G180V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10724 0.000559492 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C9ORF170 Lys90Arg K90R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF171 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF171 Leu225Pro L225P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF171 Gly282Asp G282D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF3 Arg386Cys R386C not reviewed Insufficiently evaluated not reviewed unknown Array rs34557833 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - C9ORF3 Ala469Val A469V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF3 Val485Ala V485A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF37 Val119Met V119M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF37 Cys101Arg C101R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C9ORF41 Ile273Val I273V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF43 Ala410Thr A410T not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF46 Gly108Ser G108S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF50 Arg403Trp R403W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF50 Ser340Pro S340P not reviewed Insufficiently evaluated not reviewed unknown Array rs41276772 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF6 Pro10Arg P10R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF61 Gly47Asp G47D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF61 Thr233Ile T233I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - C9ORF68 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF71 Val66Met V66M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF72 Lys222Arg K222R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF82 Val233Met V233M not reviewed Insufficiently evaluated not reviewed unknown Array rs12342214 494 10758 0.0459193 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Gln699Arg Q699R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Gln738Arg Q738R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Pro105Arg P105R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF84 Pro66Arg P66R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF93 Thr263Ser T263S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF95 Ser115Gly S115G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF96 Gln313His Q313H not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CA1 Pro196Leu P196L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734484 188 10758 0.0174754 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 7 Y 1 - 1 - - CA10 Thr209Ile T209I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.318 - - 3 - 1 N - - CA13 Val144Ala V144A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CA14 Ser54Gly S54G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CA2 Thr55Ser T55S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 3 - 6 - - CA3 Gly154Ala G154A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CA8 Gly178Asp G178D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.155 - - 4 Y 0 N - - CA9 Arg73Ser R73S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - CA9 Pro77Ser P77S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CA9 Gly79Arg G79R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - CABIN1 Pro289Ala P289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CABP5 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array 295 10758 0.0274215 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CABYR Ile168Val I168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - CABYR Ile186Val I186V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 1 - 1 - - CABYR Ser338Pro S338P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CABYR Ser356Pro S356P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CABYR Thr462Ile T462I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CABYR Thr480Ile T480I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CACHD1 Ile290Asn I290N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CACHD1 Ser574Gly S574G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CACNA1B Gly2215Arg G2215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.402 - - 6 Y 1 N - - CACNA1F Leu364Pro L364P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CACNA1F Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array rs6520408 502 8664 0.0579409 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 - 3 - - CACNA1G Ala1974Ser A1974S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala1981Ser A1981S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala1992Ser A1992S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala1997Ser A1997S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2004Ser A2004S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2015Ser A2015S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2029Ser A2029S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2037Ser A2037S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2052Ser A2052S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2063Ser A2063S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2074Ser A2074S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2085Ser A2085S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1G Ala2108Ser A2108S not reviewed Insufficiently evaluated not reviewed unknown Array rs8066269 274 10064 0.0272258 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CACNA1H Asp1904Glu D1904E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - CACNA1H Asp1910Glu D1910E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 2 - - CACNA1I Ala498Val A498V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CACNA1I Ala533Val A533V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CACNA1S Ser1011Pro S1011P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CACNA1S Arg593Gln R593Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CACNA1S Asp394Asn D394N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 1 - - CACNA2D1 Thr954Met T954M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CACNA2D4 Met747Val M747V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10116 0.00257019 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNB2 Glu304Gln E304Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu305Gln E305Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu307Gln E307Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu311Gln E311Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu321Gln E321Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu331Gln E331Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu335Gln E335Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACNB2 Glu359Gln E359Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - -2 - 1 N - - CACNB2 Arg451Gly R451G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg452Gly R452G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg454Gly R454G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg458Gly R458G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg468Gly R468G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg478Gly R478G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - CACNB2 Arg482Gly R482G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNB2 Arg506Gly R506G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - 6 Y 0 N - - CACNB3 Arg423Cys R423C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - CACNG1 Val172Ala V172A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - CACNG2 Val8Asp V8D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - CACNG5 Leu105Pro L105P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CACNG5 Ser291Pro S291P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CACNG6 Ala126Glu A126E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 1 N - - CACNG6 Arg127His R127H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CAD Ser1337Gly S1337G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 2 - 1 N - - CADM4 Tyr159His Y159H not reviewed Insufficiently evaluated not reviewed unknown Array 58 10756 0.00539234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - -1 - 2 N - - CADPS2 Ala298Thr A298T not reviewed Insufficiently evaluated not reviewed unknown Array rs17144625 162 9368 0.0172929 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAGE1 Thr33Ile T33I not reviewed Insufficiently evaluated not reviewed unknown Array rs10223538 389 9600 0.0405208 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CALCOCO2 Thr294Asn T294N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - CALCOCO2 Gln327Glu Q327E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - CALD1 Leu272Ser L272S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CALD1 Lys205Glu K205E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 Lys211Glu K211E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 Lys440Glu K440E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 Ile410Val I410V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CALD1 Ile416Val I416V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CALD1 Ile436Val I436V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CALD1 Ile442Val I442V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CALD1 Ile671Val I671V not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 1 - 1 - - CALHM1 Met323Ile M323I not reviewed Insufficiently evaluated not reviewed unknown Array 162 10756 0.0150614 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CALHM1 Gly282Cys G282C not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 7 Y 0 N - - CALHM3 Ser339Pro S339P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CALHM3 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CALM2 Gly24Val G24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CALML5 Ser58Cys S58C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.163 - - 3 - 1 - 3 - - CALML5 Ser45Leu S45L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - CALML5 Asp23Glu D23E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CALML6 Met172Thr M172T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10724 0.00410295 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - CALR3 Lys207Glu K207E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - CAMKK2 Phe453Cys F453C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CAMKK2 Phe496Cys F496C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - CAMTA1 Ala697Val A697V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMTA1 Val733Ile V733I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CAMTA1 Ser947Leu S947L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - CAMTA1 Leu1516Pro L1516P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 7 Y 2 N - - CAMTA2 Ala926Asp A926D not reviewed Insufficiently evaluated not reviewed unknown Array rs34249300 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - CAMTA2 Val852Ile V852I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.437 - - -4 - 1 N - - CAND2 Met404Val M404V not reviewed Insufficiently evaluated not reviewed unknown Array rs9834623 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAND2 Ser440Ala S440A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - CAND2 His562Arg H562R not reviewed Insufficiently evaluated not reviewed unknown Array rs9838943 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CAND2 His765Arg H765R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CAND2 Ala1108Ser A1108S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - CAND2 Ala1108Pro A1108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - CANT1 Ala218Ser A218S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - CANT1 Cys60Ser C60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 3 - 1 N - - CANX Glu540Val E540V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 0 N - - CANX Lys551Stop K551X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAP1 Tyr249His Y249H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 1 - 6 - - CAP2 Tyr316Cys Y316C not reviewed Insufficiently evaluated not reviewed unknown Array rs34206659 301 10758 0.0279792 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - CAPG Arg149Pro R149P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CAPG Ile5Val I5V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 7 - - CAPN11 Pro412Leu P412L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10678 0.00421427 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.39 - - 7 Y 1 N - - CAPN12 Gly190Ser G190S not reviewed Insufficiently evaluated not reviewed unknown Array rs62617084 18 10756 0.00167348 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - CAPN12 Ser67Leu S67L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.807 - - 6 Y 1 N - - CAPN12 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.585 - - 0 - 1 N - - CAPN13 Ser436Ile S436I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 5 Y 0 N - - CAPN14 Arg410Gly R410G not reviewed Insufficiently evaluated not reviewed unknown Array 289 3234 0.089363 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 6 Y 0 N - - CAPN14 Arg68Cys R68C not reviewed Insufficiently evaluated not reviewed unknown Array 22 3232 0.00680693 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - 8 Y 2 N - - CAPN2 Lys490Stop K490X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - CAPN2 Lys568Stop K568X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - CAPN2 Lys599Gln K599Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - CAPN2 Lys677Gln K677Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230082 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - CAPN3 Gly21Glu G21E not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y 6 Y 2 N - - CAPN3 Lys597Asn K597N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.493 Y Y 1 - 3 N - - CAPN3 Lys85Asn K85N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CAPN3 Lys211Thr K211T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 4 N - - CAPN3 Lys58Thr K58T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CAPN3 Lys630Thr K630T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CAPN3 Lys631Thr K631T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CAPN3 Lys717Thr K717T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CAPN3 Lys723Thr K723T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - CAPN5 Pro492Leu P492L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - CAPN7 Leu248Pro L248P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CAPNS2 Trp154Cys W154C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CAPRIN2 Arg604Gly R604G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAPRIN2 Arg888Gly R888G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAPRIN2 Arg938Gly R938G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - CAPRIN2 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - CAPRIN2 Met334Thr M334T not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 2 - 1 N - - CAPS Arg39Gly R39G not reviewed Insufficiently evaluated not reviewed unknown Array rs7249419 516 10758 0.0479643 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - CAPS2 Val481Leu V481L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10754 0.00390552 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - CAPS2 Lys436Thr K436T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - CAPSL Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CAPSL Phe64Leu F64L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.779 - - 0 - 1 N - - CAPZA1 Asp6His D6H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - CARD11 Gly540Arg G540R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CARD14 Arg986Cys R986C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CARD16 Ala120Thr A120T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CARD6 Val505Ile V505I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CARD8 Ser289Gly S289G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 1 N - - CARD8 Gln152Arg Q152R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - CARD9 Ala170Thr A170T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10722 0.00223839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CARS Ala462Thr A462T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CARS Ala472Thr A472T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - CARS Ala555Thr A555T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737267 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CARS2 Gln555Pro Q555P not reviewed Insufficiently evaluated not reviewed unknown Array rs1043886 1116 10758 0.103737 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CARS2 Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - CASC3 Leu617Val L617V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - CASD1 Pro689Arg P689R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CASK Gln618Arg Q618R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASK Gln624Arg Q624R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASK Gln647Arg Q647R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.692 - - 0 - 1 N - - CASKIN2 Arg753Pro R753P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CASKIN2 Arg835Pro R835P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - CASKIN2 Arg753Gly R753G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASKIN2 Arg835Gly R835G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - CASP10 Gln296Glu Q296E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - CASP10 Gln339Glu Q339E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 2 N - - CASP3 Leu91Pro L91P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 3 - 1 - - CASP4 Asn29Lys N29K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP4 Asn85Lys N85K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP5 Lys19Asn K19N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP5 Lys77Asn K77N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP5 Lys90Asn K90N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP5 Gly9Val G9V not reviewed Insufficiently evaluated not reviewed unknown Array 64 3234 0.0197897 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - CASP7 Arg54Stop R54X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CASP7 Arg87Stop R87X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CASP7 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP7 Glu226Ala E226A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASP7 Arg237Ser R237S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASP7 Arg270Ser R270S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASQ1 Tyr140Phe Y140F not reviewed Insufficiently evaluated not reviewed unknown Array 248 10758 0.0230526 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CASR Phe662Leu F662L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 0 - 3 N - - CASS4 Ser411Cys S411C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - CAST Glu119Gly E119G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - CAST Glu14Gly E14G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - CAST Glu36Gly E36G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 3 - 6 - - CAST Glu97Gly E97G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - CAST Thr103Ile T103I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - CAST Thr125Ile T125I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - CAST Thr20Ile T20I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - CAST Thr42Ile T42I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 3 - 9 - - CAST Gln248Lys Q248K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln261Lys Q261K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln267Lys Q267K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln280Lys Q280K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln302Lys Q302K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CAST Gln344Lys Q344K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln350Lys Q350K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - CAST Gln363Lys Q363K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln366Lys Q366K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Gln385Lys Q385K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Asp277Glu D277E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - CAST Asp290Glu D290E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 5 - - CAST Asp296Glu D296E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - CAST Asp309Glu D309E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Asp331Glu D331E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 3 - 6 - - CAST Asp373Glu D373E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CAST Asp379Glu D379E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CAST Asp392Glu D392E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CAST Asp395Glu D395E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CAST Asp414Glu D414E not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CAST Asp54Glu D54E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CAST Arg190His R190H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - CAST Arg413His R413H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CAST Arg426His R426H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - CAST Arg432His R432H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - CAST Arg445His R445H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CAST Arg467His R467H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CAST Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAST Arg515His R515H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAST Arg528His R528H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CAST Arg531His R531H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAST Arg550His R550H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CAST Tyr340Stop Y340X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr564Stop Y564X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr577Stop Y577X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr583Stop Y583X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr596Stop Y596X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr618Stop Y618X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr660Stop Y660X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - CAST Tyr666Stop Y666X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr679Stop Y679X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr682Stop Y682X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAST Tyr701Stop Y701X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CASZ1 Val815Met V815M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - CASZ1 Arg75Gln R75Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.136 - - 0 - 0 N - - CAT Leu419Val L419V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 9 - - CATSPER1 Leu314Val L314V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.06 - Y 0 - 1 N - - CATSPER1 Arg230Cys R230C not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.854 - Y 8 Y 3 N - - CATSPER2 Ser281Leu S281L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.849 - Y 6 Y 2 N - - CATSPER3 Val119Ala V119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - CATSPER4 Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 1 N - - CATSPER4 Ala187Val A187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CATSPERB Trp848Arg W848R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CAV3 Val82Ile V82I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CBFA2T3 Gly549Glu G549E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CBFA2T3 Gly635Glu G635E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 6 Y 2 N - - CBFA2T3 Gly32Arg G32R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - CBFA2T3 Gly16Stop G16X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CBL Cys840Trp C840W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CBLB Ser437Gly S437G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.707 Y Y 2 - 3 N - - CBLB Pro409Leu P409L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 5 - 1 - - CBLC His359Asp H359D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CBLC His405Asp H405D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.976 Y Y 3 - 4 N - - CBLL1 His366Leu H366L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CBR3 Pro131Ser P131S not reviewed Insufficiently evaluated not reviewed unknown Array rs16993929 493 10758 0.0458264 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 1 - 10 - - CBR4 Ile207Val I207V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CBS Phe99Tyr F99Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 7 - - CBWD6 Trp100Arg W100R not reviewed Insufficiently evaluated not reviewed unknown Array 1005 10674 0.094154 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - CBX1 Lys181Thr K181T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.746 - - 3 - 1 N - - CBX1 Leu68Pro L68P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 2 N - - CBX8 Lys286Arg K286R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - -3 - 1 N - - CBX8 Met64Ile M64I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 3 - 1 - - CC2D1A Thr339Pro T339P not reviewed Insufficiently evaluated not reviewed unknown Array rs11883041 616 9802 0.0628443 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 3 - - CC2D1B Leu588Met L588M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - - -3 - 0 N - - CC2D1B Ala346Ser A346S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - CC2D1B Pro277Leu P277L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 7 Y 0 N - - CC2D2A Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CC2D2A Arg324His R324H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.982 Y Y 1 - 4 N - - CC2D2A Arg1337Gln R1337Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CC2D2A Arg1445Gln R1445Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - CC2D2B Glu282Lys E282K not reviewed Insufficiently evaluated not reviewed unknown Array 19 3234 0.00587508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCAR1 Asp476Gly D476G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 4 Y 0 N - - CCBE1 Asp41Glu D41E not reviewed Insufficiently evaluated not reviewed unknown Array 155 8994 0.0172337 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.72 Y - -2 - 2 N - - CCBL2 Pro348Leu P348L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCBL2 Pro382Leu P382L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCBL2 Ile108Thr I108T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCBL2 Ile142Thr I142T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - CCBL2 Thr26Ala T26A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCBP2 Ala32Gly A32G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - CCDC102A Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754870 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC102B Arg487His R487H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC108 Ser1466Pro S1466P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.797 - - 3 - 1 N - - CCDC108 Thr941Met T941M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.417 - - 2 - 1 N - - CCDC108 Arg872Gln R872Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.37 - - 0 - 1 N - - CCDC108 Trp848Stop W848X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC108 Tyr315Cys Y315C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 6 Y 0 N - - CCDC11 Trp205Cys W205C not reviewed Insufficiently evaluated not reviewed unknown Array 55 10110 0.00544016 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC110 Ser413Gly S413G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC110 Ser450Gly S450G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CCDC110 Thr384Ile T384I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC110 Thr421Ile T421I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - CCDC110 Met246Thr M246T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC110 Met283Thr M283T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 2 - 0 N - - CCDC110 Pro117Ala P117A not reviewed Insufficiently evaluated not reviewed unknown Array 23 10754 0.00213874 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - CCDC110 Pro80Ala P80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC110 Phe100Leu F100L not reviewed Insufficiently evaluated not reviewed unknown Array 119 10754 0.0110656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - CCDC111 Lys70Glu K70E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - CCDC111 Ala121Asp A121D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - CCDC113 Thr44Ala T44A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - 1 - 3 - 1 - - CCDC113 Ala113Ser A113S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC113 Ala167Ser A167S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - CCDC113 Ser208Arg S208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC113 Ser262Arg S262R not reviewed Insufficiently evaluated not reviewed unknown Array rs35986384 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - CCDC113 Val251Met V251M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC113 Val305Met V305M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - CCDC114 Arg198Cys R198C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CCDC114 Arg46Trp R46W not reviewed Insufficiently evaluated not reviewed unknown Array 103 3234 0.0318491 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC116 Ser517Thr S517T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC121 Lys76Stop K76X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC122 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10394 9.6209e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - CCDC123 Arg494His R494H not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CCDC123 Arg494Cys R494C not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 2 N - - CCDC123 Thr131Ser T131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -2 - 0 N - - CCDC125 His362Arg H362R not reviewed Insufficiently evaluated not reviewed unknown Array 138 10756 0.01283 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.138 - - 1 - 0 N - - CCDC125 Glu71Ala E71A not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CCDC125 Ser48Cys S48C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - CCDC127 Arg232Gly R232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 2 N - - CCDC129 Ser48Gly S48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC129 Trp291Arg W291R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC13 Lys347Arg K347R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - -3 - 0 N - - CCDC13 Arg12Trp R12W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC132 Thr929Met T929M not reviewed Insufficiently evaluated not reviewed unknown Array rs61745719 91 9606 0.00947324 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC134 Gly116Ser G116S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.814 - - 2 - 1 N - - CCDC135 Val207Ile V207I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - CCDC135 Arg512His R512H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CCDC135 Thr532Met T532M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 2 - - CCDC135 Ala708Val A708V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC136 Val432Ile V432I not reviewed Insufficiently evaluated not reviewed unknown Array rs61746779 279 9948 0.0280458 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC137 Arg268Trp R268W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10134 0.000296033 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - CCDC138 His637Arg H637R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - CCDC14 Asn625Ser N625S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CCDC14 Ser614Arg S614R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC141 Ser464Tyr S464Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - CCDC142 Arg527Gln R527Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13385919 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC142 Glu163Gln E163Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - CCDC144NL Thr179Asn T179N not reviewed Insufficiently evaluated not reviewed unknown Array 2411 10722 0.224865 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC144NL Ser178Stop S178X not reviewed Insufficiently evaluated not reviewed unknown Array 2594 10718 0.242023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CCDC144NL Leu47Ser L47S not reviewed Insufficiently evaluated not reviewed unknown Array rs9907420 1160 10758 0.107827 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC144NL Glu33Gly E33G not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - CCDC144NL Arg9Gln R9Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 10754 0.00660219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - CCDC147 Arg466His R466H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 1 - 1 N - - CCDC147 Glu772Gly E772G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - CCDC148 Glu522Lys E522K not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CCDC148 Arg518Gly R518G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - CCDC148 Leu214Ser L214S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - 6 Y 1 N - - CCDC148 Arg178Met R178M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - CCDC148 Met54Val M54V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CCDC149 Leu125Pro L125P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC149 Leu70Pro L70P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC149 Gln114Stop Q114X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC149 Gln59Stop Q59X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC15 Ile141Val I141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.071 - - -4 - 0 N - - CCDC15 His458Pro H458P not reviewed Insufficiently evaluated not reviewed unknown Array 5 9560 0.000523012 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC15 Leu487Phe L487F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - CCDC15 Gln528Lys Q528K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC15 Gln604Arg Q604R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC15 Lys790Glu K790E not reviewed Insufficiently evaluated not reviewed unknown Array 5 9502 0.000526205 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - CCDC150 Asp91Gly D91G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CCDC150 Glu215Ala E215A not reviewed Insufficiently evaluated not reviewed unknown Array 16 9584 0.00166945 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - CCDC150 Leu620Val L620V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - CCDC151 Asp333His D333H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10632 0.000470278 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - CCDC151 Leu142Val L142V not reviewed Insufficiently evaluated not reviewed unknown Array 117 10270 0.0113924 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - CCDC151 Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10352 0.0013524 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC151 Thr49Pro T49P not reviewed Insufficiently evaluated not reviewed unknown Array rs61742088 227 9962 0.0227866 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC153 Arg187Lys R187K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CCDC154 Ala125Val A125V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC157 Arg601Trp R601W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC157 Ser703Gly S703G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC158 Gly282Glu G282E not reviewed Insufficiently evaluated not reviewed unknown Array 94 9634 0.00975711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 6 Y 0 N - - CCDC17 Arg296Stop R296X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC18 Trp75Stop W75X not reviewed Insufficiently evaluated not reviewed unknown Array 10 9888 0.00101133 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC18 Glu689Lys E689K not reviewed Insufficiently evaluated not reviewed unknown Array 11 9508 0.00115692 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC18 Ser1287Phe S1287F not reviewed Insufficiently evaluated not reviewed unknown Array 17 9608 0.00176936 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC19 Arg236Trp R236W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC19 Lys60Met K60M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC22 Arg388His R388H not reviewed Insufficiently evaluated not reviewed unknown Array 51 8731 0.00584126 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.742 - - 1 - 1 N - - CCDC24 Leu71Met L71M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.85 - - -3 - 2 N - - CCDC24 Val229Ile V229I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.427 - - -4 - 1 N - - CCDC27 Ser294Leu S294L not reviewed Insufficiently evaluated not reviewed unknown Array 126 9954 0.0126582 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - CCDC3 Ser246Ile S246I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - CCDC3 Met81Ile M81I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - -1 - 2 N - - CCDC37 Val212Leu V212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - CCDC37 Thr332Met T332M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.278 - - 2 - 1 N - - CCDC37 Met333Thr M333T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10754 0.00809001 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.904 - - 2 - 2 N - - CCDC38 Thr132Ala T132A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 1 N - - CCDC39 Glu657Asp E657D not reviewed Insufficiently evaluated not reviewed unknown Array 3 9574 0.000313348 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - CCDC40 Ser11Cys S11C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9546 0.000314267 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 1 N - - CCDC40 Asp1050Asn D1050N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - -1 - 1 N - - CCDC42 Gln120His Q120H not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 1 N - - CCDC46 Met726Ile M726I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - -1 - 2 N - - CCDC47 Glu281Gly E281G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 6 Y 1 N - - CCDC49 Met169Lys M169K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC52 Glu844Gly E844G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC52 Glu496Lys E496K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC52 Arg420Cys R420C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC54 Ile145Asn I145N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC54 Arg327Pro R327P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - CCDC57 Gln810Glu Q810E not reviewed Insufficiently evaluated not reviewed unknown Array rs7213172 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - CCDC59 Ala77Pro A77P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC63 Tyr196Cys Y196C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CCDC63 Asp373Asn D373N not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -1 - 0 N - - CCDC65 Arg472His R472H not reviewed Insufficiently evaluated not reviewed unknown Array 295 10758 0.0274215 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC66 Lys32Thr K32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC66 Lys66Thr K66T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.629 - - 3 - 1 N - - CCDC66 Thr375Ala T375A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC66 Thr409Ala T409A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - CCDC66 Ser572Pro S572P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC66 Ser606Pro S606P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - CCDC66 Ser795Pro S795P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC66 Ser829Pro S829P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - CCDC67 Met9Thr M9T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.364 - - 2 - 1 N - - CCDC67 Gln261Arg Q261R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CCDC67 Met520Thr M520T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746205 68 9914 0.00685899 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC69 Arg197Thr R197T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 1 - 2 - - CCDC69 Arg197Met R197M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 4 Y 2 - 2 - - CCDC7 Ser137Leu S137L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - 6 Y 2 N - - CCDC7 Glu264Gly E264G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 6 Y 2 N - - CCDC7 Asp309Gly D309G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - CCDC77 Gln115Glu Q115E not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - CCDC77 Gln83Glu Q83E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC77 Arg373His R373H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC77 Arg405His R405H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CCDC8 Val456Ala V456A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC8 His383Asp H383D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 1 - - CCDC80 Lys609Arg K609R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC80 Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 1 N - - CCDC81 Lys520Glu K520E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC81 Lys610Glu K610E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.353 - - 0 - 1 N - - CCDC82 Thr108Ala T108A not reviewed Insufficiently evaluated not reviewed unknown Array 282 10756 0.0262179 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CCDC83 Thr331Ile T331I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC86 Pro352Leu P352L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC87 Arg370Cys R370C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 8 Y 1 N - - CCDC88A Glu671Asp E671D not reviewed Insufficiently evaluated not reviewed unknown Array 125 10642 0.0117459 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - -2 - 1 N - - CCDC88A Met296Thr M296T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - CCDC88B Ala860Thr A860T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.765 - - 1 - 1 N - - CCDC88B Arg1024Gln R1024Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10478 0.00114526 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.787 - - 0 - 1 N - - CCDC88B Arg1058Trp R1058W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - CCDC88C Pro1955Ala P1955A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - CCDC88C Ala811Glu A811E not reviewed Insufficiently evaluated not reviewed unknown Array rs17127223 179 10236 0.0174873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - CCDC9 Asp411Glu D411E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC90A Ile318Val I318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - -4 - 2 N - - CCDC92 Ala253Thr A253T not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - CCDC93 Tyr465His Y465H not reviewed Insufficiently evaluated not reviewed unknown Array rs17047557 174 10754 0.01618 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - CCDC93 Glu349Gly E349G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCHCR1 Arg672His R672H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCHCR1 Arg725His R725H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCHCR1 Arg761His R761H not reviewed Insufficiently evaluated not reviewed unknown Array 1 7514 0.000133084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCHCR1 Arg613Gln R613Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCHCR1 Arg666Gln R666Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCHCR1 Arg702Gln R702Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCHCR1 Leu508Val L508V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CCHCR1 Leu561Val L561V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CCHCR1 Leu597Val L597V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CCHCR1 Arg134Trp R134W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg187Trp R187W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCHCR1 Arg223Trp R223W not reviewed Insufficiently evaluated not reviewed unknown Array rs11961407 102 7512 0.0135783 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCKBR Arg319Trp R319W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.666 - - 7 Y 1 N - - CCL11 Ala23Pro A23P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.095 - - 2 - 1 - 6 - - CCL15 Ser56Pro S56P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - CCL15 Asn45Asp N45D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCL16 Gln120His Q120H not reviewed Insufficiently evaluated not reviewed unknown Array 435 10758 0.040435 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCL16 Ser35Phe S35F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - CCL17 Lys5Asn K5N not reviewed Insufficiently evaluated not reviewed unknown Array rs34693308 271 10758 0.0251906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - CCL24 Ala102Thr A102T not reviewed Insufficiently evaluated not reviewed unknown Array rs11465312 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - CCL26 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 3 - 0 N - - CCL27 Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - CCL3 Glu78Asp E78D not reviewed Insufficiently evaluated not reviewed unknown Array rs34171309 329 10758 0.0305819 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CCL5 Arg44Leu R44L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - CCNA1 Gly27Arg G27R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCNA1 Met112Thr M112T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNA1 Met155Thr M155T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNA1 Met156Thr M156T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNB3 Lys883Asn K883N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCND1 Asn216Lys N216K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - CCND3 Ser178Pro S178P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - CCND3 Ser178Thr S178T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CCND3 Ser187Pro S187P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - CCND3 Ser187Thr S187T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CCND3 Ser259Pro S259P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - CCND3 Ser259Thr S259T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CCND3 Ser63Pro S63P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - CCND3 Ser63Thr S63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - CCNE2 Glu221Ala E221A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - CCNE2 Trp58Arg W58R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - CCNF Ser726Pro S726P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - CCNG1 Arg192Lys R192K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -3 - 1 N - - CCNH Val270Asp V270D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 4 - - CCNI Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - CCNI2 Ser342Asn S342N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCNJ Met115Val M115V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CCNJ His237Arg H237R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCNJ His238Arg H238R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CCNJ His249Arg H249R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCNJ Asn245Ser N245S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCNJ Asn246Ser N246S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCNJ Asn257Ser N257S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCNL2 Arg403Lys R403K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -3 - 0 N - - CCNT1 Arg350Trp R350W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CCPG1 Ile24Thr I24T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - CCR1 Arg319His R319H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - CCR1 Tyr291His Y291H not reviewed Insufficiently evaluated not reviewed unknown Array rs41393844 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - CCR3 Gly21Asp G21D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 4 Y 1 - 8 - - CCR3 Pro349Leu P349L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - CCR5 Tyr339Phe Y339F not reviewed Insufficiently evaluated not reviewed unknown Array rs1800945 36 10750 0.00334884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -4 - 1 - 10 - - CCR6 Gly345Ser G345S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - CCR6 Ala349Pro A349P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCR8 Thr151Ala T151A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - CCR9 Val49Met V49M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCR9 Val61Met V61M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - CCR9 Gln111Lys Q111K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - CCR9 Gln99Lys Q99K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCRL2 Val168Met V168M not reviewed Insufficiently evaluated not reviewed unknown Array rs6441977 1341 9810 0.136697 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CCRL2 Val180Met V180M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCS Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 2 - 1 N - - CCT2 Glu114Lys E114K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 0 - 2 N - - CCT4 Cys337Ser C337S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 3 - 1 N - - CCT5 Lys25Stop K25X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCT5 Met81Val M81V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CCT5 Thr337Ala T337A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - CCT6A Leu339Pro L339P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.904 - - 7 Y 2 N - - CCT6A Leu384Pro L384P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 7 Y 1 N - - CCT6B Val333Met V333M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCT8 Lys504Glu K504E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CCT8 Asp382Gly D382G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.773 - - 4 Y 1 N - - CCT8L1 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array 4 104 0.0384615 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - CCT8L1 Tyr393Cys Y393C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.811 - - 6 Y 1 N - - CCT8L1 Lys500Gln K500Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - CCT8L2 Glu483Stop E483X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CD109 Arg121His R121H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CD109 Val261Ala V261A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD109 Val338Ala V338A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD109 Phe267Leu F267L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD109 Phe344Leu F344L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - CD109 Ile314Val I314V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD109 Ile391Val I391V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD109 Ala724Val A724V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD109 Ala801Val A801V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD109 Gly751Ala G751A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD109 Gly828Ala G828A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - CD14 Val112Ala V112A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD151 Asp128Gly D128G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - CD163 His1121Arg H1121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD163 Thr1149Ala T1149A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - CD163 Arg1086Ile R1086I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 7 Y 2 N - - CD163 His799Arg H799R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - CD163 Glu173Gly E173G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CD163L1 Ser1441Trp S1441W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD163L1 Ala1327Thr A1327T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD163L1 Leu941Phe L941F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD164 Ser44Leu S44L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10734 0.00139743 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD164L2 Thr124Ala T124A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - CD180 Thr489Ala T489A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD180 Ser413Asn S413N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD19 Arg363Cys R363C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10618 9.4179e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 8 Y 4 N - - CD1B Phe93Ser F93S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD1C Glu274Asp E274D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CD1D Glu154Gly E154G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD1E Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CD2 Pro200Thr P200T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - CD200 Thr107Ala T107A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - CD200 Thr132Ala T132A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CD200 Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD200 Val164Ile V164I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD200R1 Thr121Asn T121N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD200R1 Thr144Asn T144N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD209 Met109Leu M109L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD209 Met134Leu M134L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD209 Met178Leu M178L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD209 Met226Leu M226L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD209 Met246Leu M246L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD209 Met270Leu M270L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - CD22 Thr68Ala T68A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 1 - 1 - - CD22 Cys484Stop C484X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - CD226 Thr293Ile T293I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD226 Ser217Leu S217L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD244 Gly287Ala G287A not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CD244 Asn89Asp N89D not reviewed Insufficiently evaluated not reviewed unknown Array rs34846692 444 10758 0.0412716 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.095 - - -1 - 0 N - - CD247 Gln101Leu Q101L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - CD27 Phe210Ile F210I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - CD274 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - CD276 Gln137Leu Q137L not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.247 - - 5 Y 2 - 4 - - CD276 Phe347Tyr F347Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - CD300A Gly30Arg G30R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.66 - - 6 Y 1 N - - CD300C Val163Met V163M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CD300E Val177Met V177M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - CD300E Tyr45Cys Y45C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - CD300LF Arg77Gly R77G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD34 Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - CD3D Tyr90Stop Y90X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CD3EAP Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD4 Ile412Thr I412T not reviewed Insufficiently evaluated not reviewed unknown Array rs11064421 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - CD4 Ile416Thr I416T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - CD40 Cys8Gly C8G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 4 - 9 - - CD46 Ser294Phe S294F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CD46 Ser309Phe S309F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.971 Y Y 5 Y 4 N - - CD48 Leu241Ser L241S not reviewed Insufficiently evaluated not reviewed unknown Array rs16832307 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CD48 Gly116Glu G116E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.921 - - 6 Y 2 N - - CD58 Cys22Gly C22G not reviewed Insufficiently evaluated not reviewed unknown Array 83 10374 0.00800077 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 7 Y 2 N - - CD58 Ser15Gly S15G not reviewed Insufficiently evaluated not reviewed unknown Array rs17426456 263 10368 0.0253665 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CD6 Val434Glu V434E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 5 Y 1 N - - CD6 Cys646Arg C646R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CD63 Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - CD69 Asn163Asp N163D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - 0.366 - - -1 - 1 N - - CD79A Ile103Met I103M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CD80 Arg272Lys R272K not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD82 Gly2Ser G2S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 2 - 5 - - CD84 Arg247Cys R247C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.802 - - 8 Y 1 N - - CD84 His78Arg H78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - CD97 Tyr581His Y581H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CD97 Tyr625His Y625H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CD97 Tyr674His Y674H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10702 0.000373761 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - -1 - 2 N - - CDAN1 Arg891His R891H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 2 N - - CDAN1 Ser817Thr S817T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -2 - 2 N - - CDAN1 Leu593Met L593M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.306 Y Y -3 - 3 N - - CDC123 Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC14A Ala577Val A577V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC16 Glu229Gly E229G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDC2 His23Arg H23R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2 Ser194Thr S194T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CDC2 Ser251Thr S251T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC20 Asn119Asp N119D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.824 - - -1 - 1 N - - CDC25B Ser197Gly S197G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC25B Ser224Gly S224G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC25B Ser238Gly S238G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 2 - 1 N - - CDC27 Asn338Ser N338S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - CDC27 Asn344Ser N344S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 Gln174His Q174H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - -1 - 1 N - - CDC2L5 Asn499Ser N499S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CDC2L5 Thr531Ala T531A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC2L5 Asn1292Ser N1292S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC2L5 Asn1352Ser N1352S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC40 Asp310Gly D310G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - CDC42BPA Ser1383Pro S1383P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC42BPA Ser1464Pro S1464P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC42BPA Gly1027Ser G1027S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC42BPA Gly946Ser G946S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC42BPA Asp367Gly D367G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - CDC42BPG Asp92Glu D92E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - -2 - 0 N - - CDC42EP1 Arg53His R53H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CDC42EP3 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - -4 - 1 N - - CDC45L Glu162Gly E162G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDC5L Arg83Gly R83G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CDC7 Gln310Arg Q310R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 0 - 1 N - - CDCA2 Arg640His R640H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDCA2 Asn702Asp N702D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDCA2 Glu703Gly E703G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDCA3 Asp174Asn D174N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.151 - - -1 - 0 N - - CDCA7 Leu223Val L223V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDCA7 Leu302Val L302V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDCP1 Gly596Ser G596S not reviewed Insufficiently evaluated not reviewed unknown Array rs35353149 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - CDCP1 Val206Ala V206A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - CDCP1 Val8Ala V8A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 1 - 1 - - CDCP2 Met262Leu M262L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CDCP2 Val109Ala V109A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - CDGAP Glu829Asp E829D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDH1 Asn751Lys N751K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 1 - 4 N - - CDH12 Glu349Asp E349D not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 1 - 1 - - CDH13 Lys126Ile K126I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 6 Y 1 N - - CDH15 Val104Ala V104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 Y - 2 - 3 N - - CDH15 Val624Gly V624G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 Y - 8 Y 1 N - - CDH16 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDH17 Leu647Phe L647F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 0 - 1 N - - CDH17 Ala269Val A269V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.139 - - 2 - 0 N - - CDH18 Asn484Ser N484S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - CDH19 Asn25Asp N25D not reviewed Insufficiently evaluated not reviewed unknown Array 114 10756 0.0105987 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - CDH2 Ser586Gly S586G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 2 - 1 N - - CDH2 Glu507Gly E507G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.887 - - 6 Y 2 N - - CDH2 Thr413Ile T413I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - CDH2 His99Arg H99R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CDH20 Val68Ile V68I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -4 - 2 N - - CDH23 Leu1122Val L1122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.691 Y Y 0 - 4 - 1 - - CDH23 Ala2985Asp A2985D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CDH24 His415Asn H415N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CDH26 Thr131Lys T131K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CDH26 Ser45Ala S45A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDH26 Ser712Ala S712A not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDH3 Ala400Gly A400G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.134 - - 1 - 0 N - - CDH3 Thr601Ile T601I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 3 - 0 N - - CDH5 Met6Val M6V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CDH5 Ile517Met I517M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDH6 Thr737Ala T737A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 1 - 2 N - - CDH7 Val557Ile V557I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CDH8 Met707Val M707V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.413 - - 0 - 1 N - - CDH8 Val610Ala V610A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDK2 Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CDK3 Gln211Leu Q211L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CDK5RAP1 Arg173Trp R173W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - CDK5RAP1 Arg83Trp R83W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK5RAP1 Ser21Thr S21T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - -2 - 0 N - - CDK5RAP2 Ser1681Asn S1681N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - CDK5RAP2 Ser1760Asn S1760N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - CDK5RAP2 Leu1639Pro L1639P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - CDK5RAP2 Leu1718Pro L1718P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - CDK5RAP2 Pro1651Ser P1651S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - CDK5RAP2 Thr878Met T878M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - CDK5RAP3 Lys40Asn K40N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CDKL2 Glu332Gly E332G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - CDKL3 Gly575Ala G575A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CDKN1B Arg196His R196H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.276 Y - 1 - 2 N - - CDNF Ala135Ser A135S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740068 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDON Val1176Ile V1176I not reviewed Insufficiently evaluated not reviewed unknown Array 294 10758 0.0273285 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDON Ser1064Asn S1064N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDON Val975Ile V975I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - -4 - 2 N - - CDR2L Asp300Glu D300E not reviewed Insufficiently evaluated not reviewed unknown Array rs36057512 468 9120 0.0513158 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.716 - - -2 - 0 N - - CDS1 Ala215Ser A215S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.056 Y - -1 - 1 N - - CDT1 Cys234Gly C234G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - CDT1 Glu456Ala E456A not reviewed Insufficiently evaluated not reviewed unknown Array 69 10732 0.00642937 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.65 - - 3 - 1 N - - CDT1 Ala537Val A537V not reviewed Insufficiently evaluated not reviewed unknown Array rs3218721 226 10720 0.0210821 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.29 - - 2 - 1 N - - CDYL His53Gln H53Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDYL Ser66Gly S66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDYL2 Leu287Pro L287P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEACAM19 Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CEACAM3 Ala93Pro A93P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737016 33 10722 0.00307778 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEACAM4 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CEACAM5 Thr41Met T41M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.106 - - 2 - 0 N - - CEACAM5 Tyr95Asn Y95N not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.808 - - 5 Y 1 N - - CEACAM5 Ile100Thr I100T not reviewed Insufficiently evaluated not reviewed unknown Array 318 10758 0.0295594 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CEACAM5 Pro186Gln P186Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEACAM5 Ala301Val A301V not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - CEACAM5 Ile451Asn I451N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 7 Y 2 N - - CEACAM7 Asn116Asp N116D not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - -1 - 1 N - - CEACAM8 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEBPD Lys91Asn K91N not reviewed Insufficiently evaluated not reviewed unknown Array 2 9484 0.000210881 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 1 - 1 N - - CEBPE Pro92Leu P92L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - CEBPZ Lys1051Thr K1051T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEBPZ Thr850Ile T850I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - CEBPZ Glu611Gly E611G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CECR2 Arg210Lys R210K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CECR5 Glu244Lys E244K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - CECR5 Glu274Lys E274K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.759 - - 0 - 2 - 1 - - CEL Leu121Arg L121R not reviewed Insufficiently evaluated not reviewed unknown Array 159 9746 0.0163144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CELA2B Arg36Lys R36K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CELA3A Ala147Thr A147T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELA3A Tyr208Asp Y208D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CELA3B Glu154Lys E154K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CELA3B Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array 333 10758 0.0309537 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELSR1 Pro2880Leu P2880L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 7 Y 1 N - - CELSR1 Arg1649Gln R1649Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - CELSR1 Glu1009Gln E1009Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.62 - - -2 - 1 N - - CELSR1 Pro619Arg P619R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - 5 Y 1 N - - CELSR2 Arg91Lys R91K not reviewed Insufficiently evaluated not reviewed unknown Array 112 10756 0.0104128 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CELSR2 Arg161Trp R161W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.079 - - 7 Y 0 N - - CELSR2 Leu1465Phe L1465F not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.308 - - 0 - 1 N - - CELSR3 Arg1962Leu R1962L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CELSR3 Ala1301Glu A1301E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEMP1 Ser177Ala S177A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CENPE Ile2310Val I2310V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CENPE Ile2191Val I2191V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10748 0.000372162 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CENPE Lys1592Gln K1592Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10754 0.00483541 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - CENPE Lys1444Arg K1444R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CENPE Lys1438Arg K1438R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -3 - 0 N - - CENPE Gly1425Glu G1425E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CENPE Ile1402Val I1402V not reviewed Insufficiently evaluated not reviewed unknown Array rs35505100 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CENPE Met1177Leu M1177L not reviewed Insufficiently evaluated not reviewed unknown Array 94 10752 0.00874256 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.464 - - -3 - 1 N - - CENPF Asp1038Gly D1038G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10742 0.000186185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CENPF Gln1814Arg Q1814R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CENPF Gln1962Stop Q1962X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CENPF Glu2011Val E2011V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - 5 Y 3 - 5 - - CENPF Ser2044Leu S2044L not reviewed Insufficiently evaluated not reviewed unknown Array rs7533166 451 10758 0.0419223 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CENPF Ala2356Gly A2356G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CENPJ Thr1269Ile T1269I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 3 - 3 N - - CENPJ His1021Tyr H1021Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.591 - Y -1 - 2 N - - CENPJ Glu1014Gly E1014G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y 6 Y 3 N - - CENPJ Asp766Glu D766E not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.541 - Y -2 - 2 N - - CENPJ His611Arg H611R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.084 - Y 1 - 1 N - - CENPO Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - CEP110 Ala263Thr A263T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 1 - 1 N - - CEP110 Asp1099Gly D1099G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 4 Y 1 N - - CEP110 Met2228Thr M2228T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - CEP135 Lys72Arg K72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CEP135 Asn139Asp N139D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CEP152 Val1106Ala V1106A not reviewed Insufficiently evaluated not reviewed unknown Array rs16961557 325 10146 0.0320323 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - CEP164 Arg480Trp R480W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10746 0.000744463 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CEP164 Cys536Tyr C536Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEP164 Glu981Asp E981D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CEP164 Gln1023Arg Q1023R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - CEP164 Thr1311Ser T1311S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743854 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - CEP192 His42Arg H42R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CEP192 Val166Met V166M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - CEP192 Cys789Arg C789R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CEP192 Ser1318Ala S1318A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 1 N - - CEP192 Arg1787Ile R1787I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - CEP250 Gln511Arg Q511R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - CEP250 Gln1235Stop Q1235X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CEP250 Gln1291Stop Q1291X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CEP350 Ser178Thr S178T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - CEP350 Gln185Arg Q185R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - CEP350 Arg275Trp R275W not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - CEP350 Asp522Gly D522G not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.773 - - 4 Y 1 N - - CEP350 Leu532Pro L532P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 7 Y 2 N - - CEP350 Asp883Gly D883G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - CEP350 Ser1304Asn S1304N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CEP63 Glu24Gly E24G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CEP63 Leu61Pro L61P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - CEP68 Val323Gly V323G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - CEP70 Phe463Leu F463L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP97 Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10754 0.0057653 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CER1 Gly175Asp G175D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CERCAM Pro165Gln P165Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 4 Y 1 N - - CERCAM Ala219Val A219V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732491 691 10758 0.0642313 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CERCAM Gly298Ser G298S not reviewed Insufficiently evaluated not reviewed unknown Array rs11554802 671 10758 0.0623722 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - CERCAM Arg485Cys R485C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - CERKL Thr350Ile T350I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CERKL Thr394Ile T394I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CERKL Thr445Ile T445I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CERKL Thr463Ile T463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - CERKL Thr489Ile T489I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CES1 Val38Ile V38I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 1 - 6 - - CES1 Val39Ile V39I not reviewed Insufficiently evaluated not reviewed unknown Array 3076 10758 0.285927 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 5 - - CES1 Arg4Pro R4P not reviewed Insufficiently evaluated not reviewed unknown Array rs111604615 6 10510 0.000570884 13 0 15 0 0 0 Y - - - - - - - - - - - - - - 0.24 - - 5 Y 2 - 4 - - CES2 Ser17Asn S17N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CES2 Ala277Pro A277P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CES3 Thr310Ala T310A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CES3 Ala498Val A498V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - CES7 Gly449Arg G449R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - CES7 Gly499Arg G499R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - CES7 Lys437Arg K437R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CES7 Lys487Arg K487R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CES7 Pro217His P217H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CETP Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array rs34716057 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.96 Y - 7 Y 3 N - - CETP Arg441Trp R441W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 7 Y 4 - 1 - - CFB Ser192Gly S192G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - CFD Ser86Leu S86L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - 6 Y 1 - 5 - - CFHR2 Asp159Gly D159G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 4 Y 2 N - - CFHR3 Gly95Ala G95A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CFHR5 Val379Leu V379L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10752 0.00437128 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 0 - 2 N - - CFHR5 Phe539Val F539V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - CFI Pro553Ala P553A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.337 Y Y 2 - 4 - 1 - - CFI Ile306Val I306V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10754 0.00148782 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CFI Asp289Gly D289G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 4 Y 4 N - - CFI Gly261Ala G261A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.098 Y Y 1 - 2 N - - CFLAR Leu203Ile L203I not reviewed Insufficiently evaluated not reviewed unknown Array rs13424615 263 10758 0.0244469 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - CFTR Ala252Val A252V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 3 - 3 - - CGN Lys384Arg K384R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CGN Glu842Gln E842Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CGNL1 Thr620Ile T620I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CGNL1 Ser1289Asn S1289N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - CGREF1 Glu278Lys E278K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CGREF1 Glu151Gly E151G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CGRRF1 Arg251Lys R251K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CHAD Thr350Ile T350I not reviewed Insufficiently evaluated not reviewed unknown Array rs2231510 291 10758 0.0270496 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 3 - 3 - - CHAF1A Leu72Val L72V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHAF1A Arg319His R319H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHAF1B Lys506Stop K506X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - CHCHD10 His136Gln H136Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - CHCHD10 Pro96Thr P96T not reviewed Insufficiently evaluated not reviewed unknown Array 683 10570 0.0646168 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CHCHD7 Arg59Ser R59S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHCHD7 Arg71Ser R71S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHCHD7 Arg84Ser R84S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHD1 Cys1076Arg C1076R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CHD1 Glu267Gly E267G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHD1L Thr274Ile T274I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 3 - 2 - 1 - - CHD2 Cys1250Arg C1250R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - CHD2 Leu1507Pro L1507P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - CHD2 His1684Gln H1684Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - CHD4 Glu417Asp E417D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - -2 - 2 N - - CHD6 Ala1932Thr A1932T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHD6 Leu1893Phe L1893F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD6 Gly1313Arg G1313R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CHD6 Arg986Stop R986X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CHD6 Val383Ala V383A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 2 - 0 N - - CHD7 Lys812Asn K812N not reviewed Insufficiently evaluated not reviewed unknown Array 8 9496 0.000842459 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y Y 1 - 2 N - - CHD7 Ile2725Val I2725V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.85 Y Y -4 - 4 N - - CHDH Glu456Gly E456G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 6 Y 1 N - - CHEK1 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHEK2 Ile221Thr I221T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CHEK2 Ile264Thr I264T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CHEK2 Gly30Asp G30D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CHFR Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array rs9943856 24 128 0.1875 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CHGA Glu242Lys E242K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHGB Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6139873 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 10 - - CHGB Glu267Gly E267G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10752 0.00223214 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 2 N - - CHGB Arg500Lys R500K not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -3 - 2 N - - CHI3L1 Ala349Thr A349T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.055 - - 1 - 0 N - - CHI3L1 Lys108Thr K108T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHI3L2 Ala278Ser A278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - CHI3L2 Ala347Ser A347S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHI3L2 Ala357Ser A357S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - CHID1 Ala219Val A219V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.162 - - 2 - 0 N - - CHID1 Ala244Val A244V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHIT1 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.969 Y - 1 - 3 N - - CHL1 Ile149Thr I149T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CHL1 Arg639Thr R639T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHL1 Thr848Ala T848A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHL1 Gly1097Ala G1097A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHL1 Glu1185Gly E1185G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHML Arg417Gln R417Q not reviewed Insufficiently evaluated not reviewed unknown Array 138 10754 0.0128324 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - CHML Phe259Ser F259S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CHML Asp151Asn D151N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CHML Asn4Ser N4S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - CHP2 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHPF His569Gln H569Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 1 - 2 - - CHPF Arg478His R478H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - CHPF Ala402Thr A402T not reviewed Insufficiently evaluated not reviewed unknown Array 102 10752 0.00948661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRD Val802Ile V802I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - -4 - 1 N - - CHRDL1 Lys238Asn K238N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRDL1 Lys317Asn K317N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRDL1 Lys318Asn K318N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRDL2 Ile226Ser I226S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHRM3 Phe49Leu F49L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHRM3 Ile83Val I83V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHRM5 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHRM5 Lys504Arg K504R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - CHRNA1 Leu450Pro L450P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CHRNA1 Leu475Pro L475P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CHRNA1 His320Gln H320Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CHRNA1 His345Gln H345Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CHRNA3 Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - CHRNA4 Gly481Ser G481S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10506 0.000761469 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CHRNA9 Arg331Trp R331W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 7 Y 2 N - - CHRNB4 Met467Val M467V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737502 315 10758 0.0292805 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHST11 Thr95Arg T95R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHST15 Gly206Ala G206A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - CHST15 Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array rs35043821 288 10758 0.0267708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CHST4 Asp67Asn D67N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - CHSY1 Arg705Pro R705P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.411 - - 5 Y 1 N - - CHSY3 Ser799Leu S799L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 6 Y 2 N - - CHTF18 Glu116Lys E116K not reviewed Insufficiently evaluated not reviewed unknown Array rs77682584 735 9766 0.0752611 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - CHTF18 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10364 9.6487e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CHTF18 Ser689Arg S689R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CHTF18 Pro892Ala P892A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10202 0.00186238 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - CHUK Glu492Gly E492G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - CIB3 Arg137Leu R137L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 6 Y 2 N - - CIDEA Val115Leu V115L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CIDEA Val149Leu V149L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CIDEC Arg182His R182H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CIDEC Ala135Thr A135T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CIITA Cys3Ser C3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 8 - - CIITA Ser781Leu S781L not reviewed Insufficiently evaluated not reviewed unknown Array rs13330686 710 10720 0.0662313 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 5 - - CIITA Val782Ala V782A not reviewed Insufficiently evaluated not reviewed unknown Array rs13336804 721 10712 0.0673077 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 6 - - CILP Ala1143Val A1143V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CILP Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CILP2 Ser528Arg S528R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CIR Leu318Val L318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIT Ile1681Val I1681V not reviewed Insufficiently evaluated not reviewed unknown Array 375 10758 0.0348578 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIT Glu750Gly E750G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CIT Gly15Val G15V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CIZ1 Val363Ile V363I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIZ1 Val382Ile V382I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIZ1 Val387Ile V387I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIZ1 Val443Ile V443I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIZ1 Arg290Gln R290Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIZ1 Arg309Gln R309Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIZ1 Arg314Gln R314Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CKAP2L Asn62Ser N62S not reviewed Insufficiently evaluated not reviewed unknown Array rs17042344 655 10758 0.0608849 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - CKAP4 Arg585Gly R585G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 1 - - CKAP4 Ser179Thr S179T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - CKAP5 Thr1497Ala T1497A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CKAP5 Asn846Ser N846S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CKMT2 Ser337Arg S337R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - CLASP1 Ala644Gly A644G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLCA2 His857Arg H857R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLCA4 Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array 8 9788 0.000817327 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLCC1 Met354Ile M354I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLCC1 Met404Ile M404I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CLCC1 Leu58Met L58M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CLCN1 Gln154Arg Q154R not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CLCN1 Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CLCN1 Ala437Thr A437T not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - CLCN1 Gln753Pro Q753P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CLCN1 Thr833Ala T833A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CLCN3 Val669Leu V669L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 0 - 0 N - - CLCN7 Lys141Arg K141R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - CLCN7 Lys165Arg K165R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - CLCN7 Asp48Gly D48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CLCN7 Asp72Gly D72G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 4 Y 2 N - - CLCNKA Thr454Ala T454A not reviewed Insufficiently evaluated not reviewed unknown Array rs34471231 816 10758 0.0758505 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - CLCNKA His544Arg H544R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CLCNKB Ser88Arg S88R not reviewed Insufficiently evaluated not reviewed unknown Array rs5256 439 10758 0.0408068 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 3 - - CLCNKB Cys157Arg C157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 2 - - CLDN10 Asp108Asn D108N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLDN10 Asp110Asn D110N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - -1 - 2 N - - CLDN10 Asp89Asn D89N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLDN17 Arg61Trp R61W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - CLDN18 Ile133Val I133V not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -4 - 2 N - - CLDN20 Ala4Gly A4G not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - CLDN20 Gly94Arg G94R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CLDN4 Ile36Met I36M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - -1 - 0 N - - CLDND2 Val124Phe V124F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737052 600 10756 0.0557828 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 0 N - - CLEC10A Cys138Arg C138R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 8 Y 2 N - - CLEC10A Cys165Arg C165R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CLEC12A Cys50Phe C50F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLEC12B Ile125Phe I125F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - CLEC14A Gly439Ser G439S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CLEC14A Asp393Asn D393N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.407 - - -1 - 1 N - - CLEC14A Arg322Thr R322T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC14A Ser101Phe S101F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - 5 Y 2 N - - CLEC2A Ser73Pro S73P not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC2L Ala38Asp A38D not reviewed Insufficiently evaluated not reviewed unknown Array 13 2162 0.00601295 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLEC4A Thr40Asn T40N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - 1 - 0 N - - CLEC4C Trp160Arg W160R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLEC4C Trp191Arg W191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CLEC4C Leu27Val L27V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4C Leu58Val L58V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - CLEC4D Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - CLEC4E Phe46Tyr F46Y not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLEC4F Glu185Gly E185G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLEC4F Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 8 Y 2 N - - CLEC5A Val12Leu V12L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10736 0.00130402 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 0 - 1 N - - CLEC7A Tyr159Stop Y159X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - CLEC7A Tyr192Stop Y192X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - CLEC7A Ser141Gly S141G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC7A Ser187Gly S187G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC7A Ser117Phe S117F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.78 - - 5 Y 1 N - - CLEC7A Ser38Phe S38F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLEC7A Ser71Phe S71F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLECL1 Gly127Stop G127X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLECL1 Ser52Thr S52T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 1 N - - CLGN Lys559Thr K559T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - CLGN Ile363Arg I363R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.909 - - 7 Y 2 N - - CLIP1 Lys1240Arg K1240R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CLIP1 Lys1275Arg K1275R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CLIP1 Pro184Leu P184L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.079 - - 7 Y 0 N - - CLIP2 Ile368Val I368V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -4 - 2 N - - CLIP4 His361Arg H361R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - CLK1 Ser104Pro S104P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLN3 His404Arg H404R not reviewed Insufficiently evaluated not reviewed unknown Array 1203 10758 0.111824 8 0 11 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 3 N - - CLN3 Arg272Trp R272W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.482 Y Y 7 Y 3 N - - CLN5 Thr194Ile T194I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CLN8 His92Tyr H92Y not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y -1 - 3 - 1 - - CLN8 Trp213Cys W213C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.587 Y Y 7 Y 3 N - - CLOCK Thr398Ala T398A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 1 - 8 - - CLPB Thr706Ala T706A not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.529 - - 1 - 1 N - - CLPB Lys688Arg K688R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - -3 - 0 N - - CLPB Arg77Pro R77P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 5 Y 1 N - - CLPP Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - CLPTM1L Val207Leu V207L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - CLPX Ser534Gly S534G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLPX Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - CLRN1 Phe197Leu F197L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CLRN3 Ile51Thr I51T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.254 - - 3 - 1 N - - CLSPN Glu995Lys E995K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLSPN Glu694Gln E694Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLSPN Gly561Ser G561S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLSPN Lys105Arg K105R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CLSTN2 Arg777Cys R777C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - CLTA Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLTA Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLTA Ile202Val I202V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLTC Val815Ala V815A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLTCL1 Arg1620Pro R1620P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - CLTCL1 Ala1359Thr A1359T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLTCL1 Val1201Gly V1201G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CLTCL1 Glu1020Lys E1020K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Ser70Gly S70G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLU Ser396Trp S396W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - CLU Ser448Trp S448W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - CLU His263Gln H263Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 8 - - CLU His315Gln H315Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 7 - - CLU Glu14Stop E14X not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 10 - - CLUAP1 Ile66Ser I66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - CLUAP1 Gly131Cys G131C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 7 Y 1 N - - CLUAP1 Val196Phe V196F not reviewed Insufficiently evaluated not reviewed unknown Array rs35065818 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 2 - 1 - - CLUAP1 Val30Phe V30F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - CMAS Tyr238Stop Y238X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - CMC1 Thr104Ala T104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 1 N - - CMKLR1 Val217Ala V217A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CMKLR1 Val219Ala V219A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CMTM2 Glu61Lys E61K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - CMTM2 Arg72Trp R72W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CMTM8 Ser163Gly S163G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - CMYA5 Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62621858 218 9608 0.0226894 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CMYA5 Val1146Ala V1146A not reviewed Insufficiently evaluated not reviewed unknown Array 16 9916 0.00161355 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 0 N - - CMYA5 Asn1575Tyr N1575Y not reviewed Insufficiently evaluated not reviewed unknown Array 427 9782 0.0436516 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.854 - - 5 Y 2 N - - CMYA5 Ile2113Thr I2113T not reviewed Insufficiently evaluated not reviewed unknown Array 123 9736 0.0126335 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.143 - - 3 - 0 N - - CMYA5 Gly2324Arg G2324R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - CMYA5 Val2480Met V2480M not reviewed Insufficiently evaluated not reviewed unknown Array 16 9542 0.0016768 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - CMYA5 Thr2595Ile T2595I not reviewed Insufficiently evaluated not reviewed unknown Array 16 9636 0.00166044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - CMYA5 Arg2797His R2797H not reviewed Insufficiently evaluated not reviewed unknown Array rs59212409 519 9570 0.054232 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.789 - - 1 - 0 N - - CNBD1 Met3Thr M3T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9950 0.000201005 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.861 - - 2 - 2 N - - CNBD1 Ala299Gly A299G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.194 - - 1 - 0 N - - CNDP1 Val466Leu V466L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNDP2 Val432Ile V432I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - CNGA3 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CNGA3 Glu198Lys E198K not reviewed Insufficiently evaluated not reviewed unknown Array rs2271041 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CNGA4 Asn296Ser N296S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CNGA4 Arg498Gln R498Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNGB1 Ile846Val I846V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - CNGB3 Gln720Arg Q720R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - CNKSR1 Tyr470Cys Y470C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNKSR1 Asp482Gly D482G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CNKSR1 His687Tyr H687Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1045105 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - CNKSR2 Val876Glu V876E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CNN2 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CNNM4 Thr440Ile T440I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - CNO Gly164Ala G164A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 1 N - - CNOT1 Thr1605Ser T1605S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - CNOT1 Ile509Val I509V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 0 N - - CNOT1 His401Tyr H401Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.61 - - -1 - 1 N - - CNOT1 Asp370Gly D370G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 2 N - - CNOT1 Gly130Ser G130S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - CNPY1 Asn88Ser N88S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9700 0.000103092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CNPY2 Asp172Gly D172G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - CNPY4 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.448 - - 1 - 1 N - - CNR1 Met275Thr M275T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CNR1 Met308Thr M308T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - CNR2 Leu55Pro L55P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CNRIP1 Ser75Pro S75P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - CNTD1 Thr188Met T188M not reviewed Insufficiently evaluated not reviewed unknown Array rs61995870 252 10758 0.0234244 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 1 - - CNTD2 Ser236Pro S236P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CNTN2 Leu437Val L437V not reviewed Insufficiently evaluated not reviewed unknown Array 446 10758 0.0414575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTN3 His625Arg H625R not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - CNTN3 Asn566Asp N566D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - CNTN3 Leu352Pro L352P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CNTN3 Tyr315Cys Y315C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - CNTN4 Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array 130 9706 0.0133938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTN6 Val579Ala V579A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 2 - 2 N - - CNTN6 Thr915Ala T915A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - CNTNAP2 Ala416Val A416V not reviewed Insufficiently evaluated not reviewed unknown Array rs34456867 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - CNTNAP2 Val1102Ala V1102A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 1 - 1 - - CNTNAP4 Ile648Leu I648L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNTNAP4 Asn575Thr N575T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNTNAP4 Pro903Leu P903L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNTROB Ala464Thr A464T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - 1 - 1 N - - CNTROB Glu655Lys E655K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - COBL Ala655Pro A655P not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.219 - - 2 - 1 N - - COBLL1 Glu1043Ala E1043A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COBLL1 Ala801Val A801V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COG1 Glu453Gln E453Q not reviewed Insufficiently evaluated not reviewed unknown Array 701 10758 0.0651608 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.11 Y Y -2 - 2 N - - COG5 Met728Leu M728L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - COG5 Met749Leu M749L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - COG5 Leu92Pro L92P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - COG6 Val460Phe V460F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 3 - 2 N - - COG6 Asn538His N538H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.851 - - 0 - 2 N - - COG8 Ile548Thr I548T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COG8 Lys322Glu K322E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COIL Ser316Asn S316N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - COIL Ala291Pro A291P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - COL11A1 Asp46Glu D46E not reviewed Insufficiently evaluated not reviewed unknown Array rs11164663 1079 10758 0.100297 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - COL11A2 Gly572Glu G572E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL11A2 Gly593Glu G593E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL11A2 Gly679Glu G679E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - COL11A2 Ser160Phe S160F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.957 Y Y 5 Y 4 N - - COL12A1 Lys1302Glu K1302E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - COL12A1 Lys138Glu K138E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Phe123Ser F123S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL13A1 Val463Met V463M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val465Met V465M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val468Met V468M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val472Met V472M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val474Met V474M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val484Met V484M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val496Met V496M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val503Met V503M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val506Met V506M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val508Met V508M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val513Met V513M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL13A1 Val525Met V525M not reviewed Insufficiently evaluated not reviewed unknown Array rs58566350 314 9780 0.0321063 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL14A1 Val1685Met V1685M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - COL15A1 Ser191Pro S191P not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL15A1 Met204Leu M204L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - COL15A1 Val224Met V224M not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 1 - 1 - - COL15A1 Pro482His P482H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - COL15A1 Pro531Arg P531R not reviewed Insufficiently evaluated not reviewed unknown Array rs35529307 967 10758 0.0898866 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 1 N - - COL15A1 Arg1242Gly R1242G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - COL17A1 Ile1087Met I1087M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL17A1 Gln560His Q560H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL17A1 Ala531Val A531V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL17A1 Glu13Asp E13D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL18A1 Val1272Leu V1272L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL18A1 Val1452Leu V1452L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL18A1 Val1687Leu V1687L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL19A1 Pro165Ala P165A not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL19A1 Phe332Cys F332C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10728 0.00186428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL19A1 Pro793Ala P793A not reviewed Insufficiently evaluated not reviewed unknown Array rs61743753 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - COL19A1 Arg1138His R1138H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - COL1A1 Ala628Thr A628T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL1A2 His182Arg H182R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - COL1A2 Ala843Thr A843T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL20A1 Ser535Leu S535L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10222 0.000880453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL20A1 Thr612Met T612M not reviewed Insufficiently evaluated not reviewed unknown Array rs6011729 722 10708 0.0674262 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL20A1 Pro1217Ser P1217S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL20A1 Trp1269Arg W1269R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - COL22A1 Pro1000His P1000H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL22A1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.627 - - -1 - 1 N - - COL23A1 Ala213Val A213V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9876 0.000202511 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - COL25A1 His622Asp H622D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL27A1 Leu131Phe L131F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 0 - 1 N - - COL27A1 Gly316Asp G316D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 4 Y 1 N - - COL28A1 Ile380Thr I380T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL29A1 Gln2134Arg Q2134R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL29A1 Val2425Ile V2425I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COL2A1 Ile1381Val I1381V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL2A1 Ile1450Val I1450V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL2A1 Lys239Glu K239E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL2A1 Lys308Glu K308E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y 0 - 2 N - - COL2A1 Glu142Asp E142D not reviewed Insufficiently evaluated not reviewed unknown Array rs34392760 402 10758 0.0373675 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL2A1 Glu73Asp E73D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL3A1 Lys161Arg K161R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - COL3A1 Glu241Gly E241G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL3A1 Arg800Gly R800G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL3A1 Ala1217Pro A1217P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL4A1 Gln1383Arg Q1383R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 0 - 3 N - - COL4A2 Thr552Lys T552K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10000 0.0038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL4A4 Pro1004Gln P1004Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL4A5 Val253Ile V253I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL4A5 Pro396Leu P396L not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL4A5 Tyr1597His Y1597H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL4A5 Tyr1600His Y1600H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL4A6 Ala1275Thr A1275T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL4A6 Ala1276Thr A1276T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL4A6 Val885Phe V885F not reviewed Insufficiently evaluated not reviewed unknown Array 15 8761 0.00171213 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL4A6 Val886Phe V886F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL5A1 Ile168Val I168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL5A1 Ala1636Thr A1636T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL5A1 Phe1817Leu F1817L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL5A3 Asn1646Ser N1646S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL5A3 Arg1122His R1122H not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - COL6A2 Gln194Arg Q194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A2 Glu210Gln E210Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.907 Y Y -2 - 4 N - - COL6A2 Asp227His D227H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.059 Y Y 3 - 2 N - - COL6A2 Pro823Thr P823T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL6A2 Ser895Thr S895T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A2 Val951Ile V951I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.05 Y Y -4 - 2 N - - COL6A2 Ala1006Val A1006V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 2 - 2 N - - COL6A3 Val2652Ile V2652I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val2657Ile V2657I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val2658Ile V2658I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val2691Ile V2691I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val2858Ile V2858I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Ala2437Val A2437V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2442Val A2442V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2443Val A2443V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2476Val A2476V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Ala2643Val A2643V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Phe2308Leu F2308L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Phe2313Leu F2313L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Phe2314Leu F2314L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Phe2347Leu F2347L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Phe2514Leu F2514L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Leu1917Val L1917V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Leu1922Val L1922V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Leu1923Val L1923V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Leu1956Val L1956V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Leu2123Val L2123V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Val1726Ile V1726I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val1731Ile V1731I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val1732Ile V1732I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val1765Ile V1765I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Val1932Ile V1932I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL6A3 Asn430His N430H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Asn435His N435H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Asn636His N636H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Val66Ala V66A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A6 Arg155Gln R155Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 9810 0.00265036 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - COL6A6 Arg937Trp R937W not reviewed Insufficiently evaluated not reviewed unknown Array 32 9950 0.00321608 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - COL6A6 Glu1205Lys E1205K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - COL7A1 Arg2480Trp R2480W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL7A1 Pro2364Thr P2364T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL7A1 Pro2089Leu P2089L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 7 Y 4 N - - COL7A1 Ala1150Ser A1150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL7A1 Ala1040Thr A1040T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL7A1 Val791Ile V791I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL9A2 Ser363Pro S363P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL9A2 Gln326Pro Q326P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL9A2 Gln326Leu Q326L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL9A2 Met182Val M182V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - COL9A3 Asp600Gly D600G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 4 Y 4 N - - COLEC11 Val8Ala V8A not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - COLEC11 Gln64Arg Q64R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - COLEC12 Asp604His D604H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 3 - 1 N - - COLEC12 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 131 10756 0.0121792 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.022 - - -4 - 0 N - - COLQ Gln300Glu Q300E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COLQ Gln324Glu Q324E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COLQ Gln325Glu Q325E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y -2 - 4 N - - COLQ Gln334Glu Q334E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.382 Y Y -2 - 3 N - - COMMD6 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - COMMD9 Gln149Stop Q149X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COMMD9 Gln191Stop Q191X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COMT Tyr147Stop Y147X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COMT Tyr197Stop Y197X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COPA Val1203Ala V1203A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COPA Val1212Ala V1212A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COPB2 Asn70Lys N70K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.887 - - 1 - 2 N - - COPE Pro133Leu P133L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10732 0.000186358 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - COPE Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 3 - 10 - - COPG Gly704Arg G704R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - COPS2 Phe80Leu F80L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 0 - 0 N - - COPS5 Asn74Ser N74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - COPS5 Ala69Thr A69T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 1 - 1 N - - COQ3 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - COQ4 Ala29Pro A29P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COQ9 Ser215Thr S215T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - COQ9 Lys288Asn K288N not reviewed Insufficiently evaluated not reviewed unknown Array rs61730662 213 10758 0.0197992 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 1 - 1 N - - CORIN Ser253Gly S253G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CORIN Leu127Phe L127F not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CORO2A Lys462Asn K462N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - CORO7 Pro557Leu P557L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CORO7 Val339Leu V339L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CORO7 Arg283Gly R283G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COX19 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - COX4I1 Ala3Pro A3P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - COX4I2 Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array rs11907253 921 10758 0.0856107 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - COX4NB Ser86Gly S86G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - COX7A2L Gln24Glu Q24E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.412 - - -2 - 1 N - - COX7B2 Gln16Arg Q16R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CP110 Cys571Ser C571S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPA2 Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CPA2 His124Arg H124R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPA2 His140Arg H140R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPA2 Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CPA3 Arg2Gly R2G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 2 - 7 - - CPA3 Arg20Cys R20C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - CPA3 Val149Leu V149L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10746 0.00437372 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - CPA3 Thr416Ala T416A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 1 N - - CPA4 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731647 208 10758 0.0193344 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CPA4 Met133Leu M133L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.795 - - -3 - 1 N - - CPA5 Val237Ile V237I not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.461 - - -4 - 1 N - - CPA5 Tyr347Cys Y347C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 6 Y 1 N - - CPA6 Tyr75Phe Y75F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - CPD Val340Met V340M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 0 - 1 N - - CPEB2 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CPEB2 Thr151Ser T151S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CPLX4 Ala62Ser A62S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - CPN1 Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.048 Y - 7 Y 2 - 9 - - CPN2 Ala493Thr A493T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.491 Y - 1 - 2 N - - CPN2 His190Tyr H190Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y - -1 - 3 N - - CPNE8 Ser447Pro S447P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 3 - 1 N - - CPO Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.303 - - 3 - 2 - 8 - - CPO Arg299Stop R299X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 2 N - - CPOX Thr159Ala T159A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.124 Y - 1 - 1 N - - CPPED1 Lys81Stop K81X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPS1 Lys127Glu K127E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 0 - 2 N - - CPS1 Lys133Glu K133E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CPS1 Thr344Ile T344I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.903 Y Y 3 - 4 N - - CPS1 Thr350Ile T350I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - CPSF1 Asp192Asn D192N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.181 - - -1 - 0 N - - CPSF2 Glu446Gly E446G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - CPSF6 Thr372Ala T372A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - CPSF7 Val101Ala V101A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - CPSF7 Val144Ala V144A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPT1A Val335Ile V335I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y -4 - 2 N - - CPT1A Ala275Pro A275P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - CPT1A Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CPT1B Lys545Arg K545R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CPT1B Lys592Arg K592R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CPT1B Lys626Arg K626R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CPT1B Glu205Stop E205X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPT1B Glu239Stop E239X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPT1B Asp202Gly D202G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPT1B Asp236Gly D236G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - CPT1C Ser24Gly S24G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CPT1C Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPT1C Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPT2 Gly630Cys G630C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.038 Y Y 7 Y 2 N - - CPVL Ser303Phe S303F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.719 - - 5 Y 1 N - - CPVL Arg25Pro R25P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 1 - 3 - - CPXM1 Ala714Thr A714T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPXM2 Lys577Arg K577R not reviewed Insufficiently evaluated not reviewed unknown Array 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.796 - - -3 - 1 N - - CPXM2 Tyr159Asn Y159N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - CPXM2 Val23Leu V23L not reviewed Insufficiently evaluated not reviewed unknown Array 6 7646 0.000784724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPZ Ala422Pro A422P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPZ Ala548Pro A548P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPZ Ala559Pro A559P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CPZ Arg433Gln R433Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPZ Arg559Gln R559Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPZ Arg570Gln R570Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - CPZ Arg459Gln R459Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPZ Arg585Gln R585Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPZ Arg596Gln R596Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734020 289 10758 0.0268637 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - CR1 Asp1804Asn D1804N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR1 Asp2254Asn D2254N not reviewed Insufficiently evaluated not reviewed unknown Array 43 9840 0.00436992 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CRAMP1L Pro796Thr P796T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10464 0.000573394 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CRAMP1L Ser1128Cys S1128C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CRAT Phe28Leu F28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CRAT Phe7Leu F7L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - CRB1 Pro914Thr P914T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 4 Y 4 N - - CRB1 Ile1344Val I1344V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CRB2 Arg69Trp R69W not reviewed Insufficiently evaluated not reviewed unknown Array rs36035964 56 10738 0.00521512 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - CRB2 Thr575Asn T575N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - CRB3 Gln29Glu Q29E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CREB3L1 Ile516Ser I516S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CREB5 His142Arg H142R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CREB5 His248Arg H248R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CREB5 His274Arg H274R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CREB5 His281Arg H281R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CREB5 Ile368Asn I368N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CREB5 Ile474Asn I474N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CREB5 Ile500Asn I500N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CREB5 Ile507Asn I507N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CREBBP Asn1940Ile N1940I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CREBBP Asn1978Ile N1978I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CRELD2 Pro207Arg P207R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CRELD2 Ser295Thr S295T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - CRELD2 Ser344Thr S344T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - CRHR2 Val275Met V275M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 0 - 2 N - - CRHR2 Glu220Asp E220D not reviewed Insufficiently evaluated not reviewed unknown Array rs34625936 324 10758 0.0301171 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - CRIM1 Gly306Arg G306R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CRISP1 Thr97Ser T97S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - CRISP2 Gln81Stop Q81X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CRISPLD1 Gly193Arg G193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CRISPLD2 Val263Asp V263D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 8 Y 1 N - - CRK Arg17Gly R17G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.626 - - 6 Y 2 - 4 - - CRKRS Leu391Pro L391P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CRKRS Thr1195Met T1195M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CRLF3 Asp420His D420H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - CRLF3 Ala373Thr A373T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - CRLF3 Pro153Ser P153S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 1 - - CRLF3 Thr88Ala T88A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - CRNKL1 Glu725Gly E725G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - CROCC Gly199Arg G199R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10728 0.000838926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - CROCC Arg266His R266H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CROCC Arg623Pro R623P not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - CROCC Ala867Val A867V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10506 0.000285551 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 2 - 0 N - - CROCC Ser1499Pro S1499P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CROT Asp155Gly D155G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - CROT Asp183Gly D183G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CRTAC1 Pro508Leu P508L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CRTAP Val268Ile V268I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - CRTAP Asp310Asn D310N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - -1 - 3 N - - CRTC2 Pro485Ala P485A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - CRY1 Arg566His R566H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.534 - - 1 - 1 N - - CRYBB2 Cys67Arg C67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.816 - - 8 Y 1 N - - CRYBB3 Arg96His R96H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRYBG3 Ala910Val A910V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - CRYGC Leu127Pro L127P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.342 - - 7 Y 1 N - - CRYGN Glu101Lys E101K not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - CRYZL1 Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - CS Ser338Pro S338P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 1 - 4 - - CSAG1 Pro9Ser P9S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSAG1 Pro54Arg P54R not reviewed Insufficiently evaluated not reviewed unknown Array 133 8761 0.0151809 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CSE1L Ile70Thr I70T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - CSE1L Ser439Pro S439P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - CSF1 Gln209His Q209H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - CSF1 Met215Thr M215T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - CSF1R His703Tyr H703Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - CSF2RB Val97Ala V97A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 2 N - - CSF2RB Ser112Pro S112P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.951 - - 3 - 2 N - - CSF2RB Ile187Val I187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSF2RB Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSF2RB Val257Met V257M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - CSF3R Asp510His D510H not reviewed Insufficiently evaluated not reviewed unknown Array rs3917991 639 10758 0.0593977 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 0 N - - CSF3R Arg332Trp R332W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSF3R Gln143Glu Q143E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - -2 - 2 N - - CSGALNACT1 Phe473Tyr F473Y not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CSGALNACT1 Tyr224His Y224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSMD1 Gln3085His Q3085H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSMD1 Arg2297Gln R2297Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Pro2029Ser P2029S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSMD1 Met1448Val M1448V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Trp966Arg W966R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD2 Phe2478Leu F2478L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - CSMD2 Ser1363Ile S1363I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 5 Y 0 N - - CSMD2 Glu132Gly E132G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 6 Y 2 - 1 - - CSMD3 Tyr3263Cys Y3263C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CSMD3 Tyr3392Cys Y3392C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSMD3 Tyr3432Cys Y3432C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CSMD3 Phe3208Leu F3208L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Phe3337Leu F3337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Phe3377Leu F3377L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CSMD3 Val3055Ile V3055I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Val3184Ile V3184I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Val3224Ile V3224I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Thr2951Ala T2951A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD3 Thr3080Ala T3080A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD3 Thr3120Ala T3120A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - 1 - 1 N - - CSMD3 Ile1810Val I1810V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Ile1874Val I1874V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Ile1914Val I1914V not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Gln469Arg Q469R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Gln533Arg Q533R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Gln573Arg Q573R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - CSMD3 Val330Ile V330I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Val370Ile V370I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - CSMD3 Ile231Val I231V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD3 Ile271Val I271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CSMD3 Thr52Ile T52I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSMD3 Thr92Ile T92I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - CSNK1A1L Glu177Lys E177K not reviewed Insufficiently evaluated not reviewed unknown Array rs17054882 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - CSNK1A1L Asp84Gly D84G not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - CSNK1A1L Gly40Ser G40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CSNK1G1 His24Arg H24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - CSNK2A2 Arg48Trp R48W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CSPG4 Thr2261Asn T2261N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - CSPG4 Met530Ile M530I not reviewed Insufficiently evaluated not reviewed unknown Array 114 10728 0.0106264 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - CSPG4 Asn292Ser N292S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - CSPG4 Leu65Arg L65R not reviewed Insufficiently evaluated not reviewed unknown Array 521 10728 0.0485645 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 6 Y 2 N - - CSPP1 Asp316Asn D316N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSPP1 Asp351Asn D351N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSPP1 Trp1100Arg W1100R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - CSPP1 Trp1135Arg W1135R not reviewed Insufficiently evaluated not reviewed unknown Array rs1808140 139 9862 0.0140945 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - CSRNP1 Ala564Thr A564T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSRNP1 Lys258Glu K258E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - CSRNP1 Ala159Ser A159S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSRNP2 Thr436Met T436M not reviewed Insufficiently evaluated not reviewed unknown Array rs11542510 562 10758 0.0522402 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 1 - 1 - - CSRNP3 Leu116Pro L116P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - CSRNP3 Thr446Ala T446A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - CSRP1 Asn28Tyr N28Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - CSRP2 His19Gln H19Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 2 N - - CSRP2BP Pro319Leu P319L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSRP2BP Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - CST1 Gly79Ala G79A not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CST2 Trp127Stop W127X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CST2 Arg91Stop R91X not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - CST2 Arg66Cys R66C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CST2 Arg46Cys R46C not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - CST4 Asp86Asn D86N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -1 - 1 - 1 - - CST8 Leu76Pro L76P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - 7 Y 1 N - - CST9L Ser113Arg S113R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - CST9L Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.272 - - 1 - 1 N - - CSTA Thr96Arg T96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 3 - 3 - 5 - - CSTF2 Gly516Ser G516S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - 2 - 1 N - - CSTF2T Gly497Ser G497S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTAGE1 Thr677Ala T677A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTAGE1 Leu509Phe L509F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTBP2 Gln445Stop Q445X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CTBP2 Gln985Stop Q985X not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CTBP2 Trp324Cys W324C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CTBP2 Trp864Cys W864C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTBP2 His321Leu H321L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 2 - - CTBP2 His861Leu H861L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTBP2 Asn244Ser N244S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CTBP2 Asn784Ser N784S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CTBP2 Gly117Ser G117S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.404 - - 2 - 1 N - - CTBP2 Gly657Ser G657S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTBP2 Ile104Thr I104T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - CTBP2 Ile644Thr I644T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTBP2 Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CTBP2 Asp59Ala D59A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CTBS Lys381Arg K381R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTCF Tyr523Cys Y523C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - CTCF Arg544Cys R544C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - CTCFL Val652Met V652M not reviewed Insufficiently evaluated not reviewed unknown Array rs28472888 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - CTCFL Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTCFL Lys17Arg K17R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTDP1 Glu534Asp E534D not reviewed Insufficiently evaluated not reviewed unknown Array 39 10744 0.00362993 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.935 Y - -2 - 3 N - - CTDP1 Gly835Arg G835R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CTDP1 Arg889Gln R889Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.698 Y - 0 - 2 N - - CTDSPL2 Asn67Asp N67D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - -1 - 1 N - - CTNNA3 Arg646Cys R646C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CTNNA3 Leu323Ile L323I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - CTNNAL1 Asp555Glu D555E not reviewed Insufficiently evaluated not reviewed unknown Array rs34922868 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 1 - 3 - - CTNNAL1 Lys385Gln K385Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10724 0.0036367 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - -2 - 2 N - - CTNND2 Arg1063His R1063H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CTNND2 Lys647Glu K647E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CTNS Gln88Lys Q88K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - CTNS Thr168Met T168M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 2 - - CTNS Ile178Met I178M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CTPS Gln167His Q167H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 3 - 6 - - CTR9 Phe60Ser F60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - CTR9 Ala1053Ser A1053S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTRC Val255Met V255M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 N - - CTSB Phe62Leu F62L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CTSB Ser53Cys S53C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.617 - - 3 - 2 - 7 - - CTSC Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTSF Arg254Ser R254S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 1 - 4 - - CTSG Tyr37Cys Y37C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CTSH Ala161Val A161V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTSH Ala173Val A173V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTSL1 Ala79Thr A79T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 1 - 1 N - - CTSS Arg113Gly R113G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - CTSW Trp166Stop W166X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CTSZ Tyr207Stop Y207X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - CTSZ Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.229 - - 6 Y 1 N - - CTTNBP2 Lys1619Gln K1619Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - CTTNBP2 Ala1069Thr A1069T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CUBN Ile3189Val I3189V not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 3 - - CUBN Gly2791Val G2791V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - CUBN Glu2634Gly E2634G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CUBN Pro2575Arg P2575R not reviewed Insufficiently evaluated not reviewed unknown Array rs1801236 136 10754 0.0126465 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 - 1 - - CUBN Phe2263Cys F2263C not reviewed Insufficiently evaluated not reviewed unknown Array rs2271460 77 10758 0.00715746 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CUBN Ser1935Gly S1935G not reviewed Insufficiently evaluated not reviewed unknown Array rs41289305 1557 10758 0.14473 11 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - CUBN Leu1669Ile L1669I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CUBN Pro389Ala P389A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 2 - - CUBN Thr377Met T377M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - CUL1 Tyr119Cys Y119C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.566 - - 6 Y 1 N - - CUL4A Lys186Gln K186Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CUL4A Lys86Gln K86Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CUL5 Gln32Arg Q32R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - CUL7 Arg882Gln R882Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - CUL7 Ser616Gly S616G not reviewed Insufficiently evaluated not reviewed unknown Array rs7774330 132 10748 0.0122814 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - CUL7 Pro343Ser P343S not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.994 - Y 3 - 3 N - - CUL7 Leu166Val L166V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.651 - Y 0 - 2 N - - CUL9 Pro1810His P1810H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CUL9 Gln2061Arg Q2061R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CUX1 Ile543Phe I543F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CUX1 Ile545Phe I545F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CUZD1 Glu43Asp E43D not reviewed Insufficiently evaluated not reviewed unknown Array rs35299879 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - CUZD1 Ser31Arg S31R not reviewed Insufficiently evaluated not reviewed unknown Array rs34246902 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CWC15 Ser90Stop S90X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CWC22 Asp741Val D741V not reviewed Insufficiently evaluated not reviewed unknown Array rs11903115 174 9602 0.0181212 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.63 - - 8 Y 2 - 2 - - CWF19L2 Met578Val M578V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CWF19L2 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CXADR Pro25Ala P25A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 1 - 1 - - CXCL16 Arg16Trp R16W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CXCL5 Gly109Arg G109R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - CXCL5 Leu3Ile L3I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.631 - - -2 - 1 N - - CXCR4 Asp182Glu D182E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CXCR4 Asp186Glu D186E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CXCR5 Val25Ile V25I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CXCR5 Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CXORF22 Val477Ala V477A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CXORF22 Arg649Cys R649C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CXORF36 Ala133Glu A133E not reviewed Insufficiently evaluated not reviewed unknown Array rs34834703 181 8761 0.0206597 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CXORF41 Ile192Thr I192T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CXORF58 Arg157Cys R157C not reviewed Insufficiently evaluated not reviewed unknown Array 4 8761 0.000456568 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CXORF59 Val65Glu V65E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CXORF59 Phe279Leu F279L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYB561D2 Tyr193Asn Y193N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CYB5A Trp113Arg W113R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CYB5A Tyr12Stop Y12X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - CYB5D2 Arg216His R216H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - CYB5R1 Ser27Pro S27P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYB5R2 Val228Leu V228L not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - CYB5R2 Val81Met V81M not reviewed Insufficiently evaluated not reviewed unknown Array rs61733056 737 10758 0.0685072 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CYB5R4 Leu216Arg L216R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.62 - - 6 Y 1 N - - CYB5RL Arg19Pro R19P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYBA Glu12Asp E12D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.974 Y - -2 - 4 - 1 - - CYBASC3 Ser195Thr S195T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CYBRD1 Ala126Thr A126T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYFIP1 Ser279Gly S279G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 1 - - CYFIP1 His102Asp H102D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYFIP2 Lys320Stop K320X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - CYFIP2 Tyr687Stop Y687X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYLC1 Arg12Gly R12G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - CYLC1 His109Arg H109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYLC2 Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 1 - 1 - - CYLC2 Leu92Val L92V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CYLC2 Arg96Lys R96K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.505 - - -3 - 1 N - - CYLC2 Pro98Thr P98T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - CYLC2 Gly211Ala G211A not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP11A1 Met175Ile M175I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP11A1 Met333Ile M333I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.167 - - -1 - 0 N - - CYP11A1 Glu114Asp E114D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -2 - 2 N - - CYP11B1 Gln121Glu Q121E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 3 - 1 - - CYP11B2 Val386Ala V386A not reviewed Insufficiently evaluated not reviewed unknown Array rs61757294 682 10756 0.0634065 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 - 10 - - CYP11B2 Ile248Thr I248T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - CYP11B2 Lys173Arg K173R not reviewed Insufficiently evaluated not reviewed unknown Array rs4539 4020 10750 0.373953 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 - 10 - - CYP11B2 Arg30Gln R30Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6441 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 0 - 2 - 1 - - CYP1A1 Arg477Gly R477G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.637 Y - 6 Y 3 - 4 - - CYP1A1 Ile286Thr I286T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 Y - 3 - 4 - 10 - - CYP1A1 Arg279Gly R279G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 Y - 6 Y 4 - 8 - - CYP1A2 Ser298Arg S298R not reviewed Insufficiently evaluated not reviewed unknown Array rs17861157 262 10758 0.024354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 0 N - - CYP1B1 Pro435Leu P435L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y 7 Y 2 N - - CYP1B1 Glu387Gln E387Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -2 - 4 N - - CYP1B1 Gly365Arg G365R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.83 Y Y 6 Y 4 - 1 - - CYP1B1 Leu315Pro L315P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 7 Y 2 N - - CYP1B1 Ala148Thr A148T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.093 Y Y 1 - 3 - 10 - - CYP20A1 Ser118Gly S118G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP20A1 Ile320Thr I320T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - 3 - 1 N - - CYP24A1 Val457Ile V457I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP24A1 Met374Thr M374T not reviewed Insufficiently evaluated not reviewed unknown Array rs6022990 358 10758 0.0332776 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - CYP26B1 Arg191His R191H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CYP27A1 Thr505Arg T505R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.89 Y Y 3 - 4 N - - CYP2A13 Asp158Glu D158E not reviewed Insufficiently evaluated not reviewed unknown Array 261 10754 0.02427 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2A13 Thr214Pro T214P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CYP2A13 Arg403Ser R403S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP2A6 Val292Gly V292G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 8 Y 2 N - - CYP2A6 Met275Ile M275I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - CYP2A7 Ser152Gly S152G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2A7 Ser203Gly S203G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2B6 Met46Leu M46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.535 - - -3 - 2 - 10 - - CYP2C18 Thr240Ile T240I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP2C18 Thr299Ile T299I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP2C18 Arg383Leu R383L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2C18 Arg442Leu R442L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2C19 Leu17His L17H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.63 - - 6 Y 2 - 3 - - CYP2C19 Ile19Leu I19L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2C19 Phe110Tyr F110Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - CYP2C19 Glu122Ala E122A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 1 - 5 - - CYP2C19 Arg144His R144H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y 0.813 - - 1 - 2 N - - CYP2C8 Asp398Gly D398G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP2C8 Asn176Asp N176D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - CYP2C9 Ile42Val I42V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP2C9 Ile74Val I74V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP2C9 Leu287Met L287M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - -3 - 0 N - - CYP2C9 Ile359Asn I359N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 3 - 4 - - CYP2D6 Thr107Ile T107I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28371706 648 10688 0.0606287 8 0 9 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 1 N - - CYP2F1 Ser38Pro S38P not reviewed Insufficiently evaluated not reviewed unknown Array rs58285195 601 10758 0.0558654 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CYP2J2 Pro412Ala P412A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - CYP2J2 Asp342His D342H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 2 - - CYP2J2 Ile159Ser I159S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.908 - - 5 Y 2 N - - CYP2J2 Arg158Gly R158G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 2 - - CYP2J2 Gly131Asp G131D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.111 - - 4 Y 0 N - - CYP2R1 Thr383Ala T383A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 1 - 2 N - - CYP2U1 Ala352Thr A352T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - CYP3A4 Leu401Pro L401P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CYP3A4 Pro218Arg P218R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 10 - - CYP3A4 Gln200His Q200H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP3A4 Ile118Phe I118F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.661 - - 2 - 2 - 6 - - CYP3A5 Ser281Stop S281X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP3A5 Ser100Cys S100C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - CYP3A7 Asn197Asp N197D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.424 - - -1 - 1 N - - CYP46A1 Glu323Asp E323D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP4A11 Ile458Met I458M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - CYP4A22 Gly61Arg G61R not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CYP4A22 Tyr104Ser Y104S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 1 - - CYP4A22 Ser414Phe S414F not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 5 Y 0 N - - CYP4B1 Phe5Ile F5I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP4B1 Trp121Leu W121L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYP4B1 Arg274Trp R274W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP4B1 Arg275Trp R275W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP4B1 Asp294Glu D294E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP4B1 Asp295Glu D295E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP4B1 Tyr329Ser Y329S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 7 - - CYP4B1 Tyr330Ser Y330S not reviewed Insufficiently evaluated not reviewed unknown Array 283 10758 0.026306 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 7 - - CYP4B1 Phe354Cys F354C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP4B1 Phe355Cys F355C not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP4F12 Gly328Ala G328A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729079 324 10754 0.0301283 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP4F2 Leu519Met L519M not reviewed Insufficiently evaluated not reviewed unknown Array rs3093200 850 10740 0.0791434 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.569 - - -3 - 0 N - - CYP4F2 Gly185Val G185V not reviewed Insufficiently evaluated not reviewed unknown Array rs3093153 529 10758 0.0491727 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.263 - - 8 Y 1 N - - CYP4F2 Ala140Val A140V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP4F8 Arg152Cys R152C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYP4F8 Ala276Ser A276S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP4F8 Glu412Lys E412K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP4V2 Ser213Asn S213N not reviewed Insufficiently evaluated not reviewed unknown Array rs34331648 308 10758 0.0286299 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 2 - 1 - - CYP4V2 Val355Ala V355A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.154 - - 2 - 0 N - - CYP4V2 Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - CYP4V2 Ser403Asn S403N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - CYP4Z1 Leu102Pro L102P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.886 - - 7 Y 2 N - - CYP7A1 His63Gln H63Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - CYP7A1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - CYP7B1 Ile419Met I419M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.239 Y - -1 - 2 N - - CYP7B1 Glu262Stop E262X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CYP7B1 Phe81Tyr F81Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -4 - 3 N - - CYTH4 Ile390Thr I390T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.097 - - 3 - 0 N - - CYTSA Ala211Thr A211T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYTSA Thr417Ala T417A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYTSB Lys1036Arg K1036R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CYTSB Lys955Arg K955R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CYYR1 Pro146Ala P146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 2 N - - D2HGDH His220Arg H220R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.179 Y - 1 - 1 N - - D2HGDH Gly322Arg G322R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - DAAM2 Ser1027Leu S1027L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10428 0.000575373 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DAB1 Thr473Ala T473A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DAB1 Val71Ile V71I not reviewed Insufficiently evaluated not reviewed unknown Array rs1855377 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - DAB2 Val137Met V137M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - DAB2IP Gly234Trp G234W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAB2IP Gly330Trp G330W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DACT1 Asp409Asn D409N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DACT1 Asp446Asn D446N not reviewed Insufficiently evaluated not reviewed unknown Array rs34015825 502 10756 0.0466716 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - DAG1 Arg679His R679H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DAGLA Ala874Val A874V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DAGLB Val110Ile V110I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - DAK Gly100Ser G100S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.337 - - 2 - 2 - 2 - - DAK Leu146Pro L146P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAK Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.534 - - 1 - 1 N - - DAK Val352Gly V352G not reviewed Insufficiently evaluated not reviewed unknown Array rs61742358 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DAO Phe282Leu F282L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - DAP Pro53Ser P53S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.558 - - 3 - 2 - 9 - - DAP3 Cys395Ser C395S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 3 - 2 N - - DAPK1 Val704Ala V704A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DAPK1 Gln1159His Q1159H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DAPK2 Val100Ala V100A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - DARC Phe88Leu F88L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - DARC Phe90Leu F90L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DARS Asn107Ser N107S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DAXX Val375Ile V375I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - DAXX Val387Ile V387I not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - DAZAP1 Gln241Leu Q241L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DAZL Ser14Cys S14C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730117 80 10746 0.00744463 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 3 - 1 N - - DBF4 Tyr229Cys Y229C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DBF4B Met187Ile M187I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - -1 - 2 N - - DBF4B Leu372Val L372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - DBH Arg6Ser R6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.657 Y Y 3 - 4 - 10 - - DBH Leu475Pro L475P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y 7 Y 2 N - - DBI Lys82Gln K82Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -2 - 3 - 4 - - DBI Lys83Gln K83Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 8 - - DBI Lys99Gln K99Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 6 - - DBN1 Ser553Ala S553A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - DBN1 Ser555Ala S555A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - DBN1 Ala156Thr A156T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DBN1 Ala158Thr A158T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DBNDD2 Gly151Arg G151R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DBNL Pro257Arg P257R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DBNL Pro258Arg P258R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DBNL Pro266Arg P266R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DBNL Pro317Leu P317L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - DBNL Pro318Leu P318L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DBNL Pro326Leu P326L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DBR1 Gly446Asp G446D not reviewed Insufficiently evaluated not reviewed unknown Array rs34889464 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DBT Trp84Arg W84R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 3 - - DCBLD1 Tyr358Cys Y358C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DCBLD2 Ile672Phe I672F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - DCC Arg215Leu R215L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 6 Y 2 - 5 - - DCC Ser569Thr S569T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - DCC Val621Met V621M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - DCC Met1017Val M1017V not reviewed Insufficiently evaluated not reviewed unknown Array rs984274 471 10758 0.0437814 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCDC1 Met210Thr M210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - DCDC2 Asn98Tyr N98Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - DCDC2B Val53Leu V53L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - DCHS1 Leu2172Gln L2172Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56920123 220 10756 0.0204537 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DCHS1 Leu1904Gln L1904Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - DCHS1 Pro1856His P1856H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 5 Y 2 N - - DCHS1 Thr601Ala T601A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.851 - - 1 - 2 N - - DCHS1 Arg318Trp R318W not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DCHS2 Arg2589Trp R2589W not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.722 - - 7 Y 1 N - - DCHS2 Leu2395Phe L2395F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - DCHS2 Asn1615Ser N1615S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - DCHS2 Ile1527Thr I1527T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - DCHS2 Asp1083Gly D1083G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - DCHS2 Leu1059Phe L1059F not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCHS2 Met1132Ile M1132I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCHS2 Met633Ile M633I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - DCHS2 Met1103Ile M1103I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCHS2 Met604Ile M604I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - -1 - 0 N - - DCHS2 Val447Ala V447A not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - DCHS2 Val946Ala V946A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCHS2 Gly203Ser G203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCHS2 Arg166Cys R166C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DCHS2 Arg166Gly R166G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DCK Ile24Val I24V not reviewed Insufficiently evaluated not reviewed unknown Array rs66878317 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - DCK Glu120Gly E120G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - DCLK2 Lys154Arg K154R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -3 - 0 N - - DCLK2 Ile161Thr I161T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCLK2 Thr388Pro T388P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DCLK2 Thr389Pro T389P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DCLK3 Ala189Glu A189E not reviewed Insufficiently evaluated not reviewed unknown Array 99 10164 0.00974026 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCLK3 Ile137Val I137V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DCLRE1A Tyr803His Y803H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCLRE1A Gly475Glu G475E not reviewed Insufficiently evaluated not reviewed unknown Array rs35452924 30 10758 0.00278862 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - DCLRE1A Val408Ala V408A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DCLRE1B His61Asp H61D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 1 - 4 - - DCLRE1C Lys308Asn K308N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCLRE1C Lys313Asn K313N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCLRE1C Lys428Asn K428N not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCP1B Pro498Ser P498S not reviewed Insufficiently evaluated not reviewed unknown Array 290 10756 0.0269617 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCP1B Ala375Val A375V not reviewed Insufficiently evaluated not reviewed unknown Array rs1044950 289 10758 0.0268637 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCP1B Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array 289 10758 0.0268637 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCP1B Ser301Thr S301T not reviewed Insufficiently evaluated not reviewed unknown Array rs2470449 200 10758 0.0185908 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - DCP1B Asn216Ser N216S not reviewed Insufficiently evaluated not reviewed unknown Array rs34730825 287 10758 0.0266778 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCP2 Thr213Ala T213A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.484 - - 1 - 1 N - - DCPS Asp156Asn D156N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCST1 Ile80Met I80M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730947 321 10758 0.0298383 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCTN1 Ala360Thr A360T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCTN1 Ala474Thr A474T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DCTN1 Ala494Thr A494T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.96 Y - 1 - 3 N - - DCTN1 Pro189Arg P189R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - DCTN1 Pro209Arg P209R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.902 Y - 5 Y 3 N - - DCTN1 Pro75Arg P75R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - DCTN3 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - DCUN1D2 Cys18Arg C18R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - DCXR Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DDB1 Leu1098Pro L1098P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DDHD1 Ser834Pro S834P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDHD1 Ser841Pro S841P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDHD1 Ser862Pro S862P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - DDHD2 Ser41Cys S41C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.401 - - 3 - 1 N - - DDIT4L Phe153Ser F153S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - DDIT4L His109Arg H109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - DDR1 Ser17Cys S17C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - DDR1 Arg135Cys R135C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DDR1 Arg248Pro R248P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DDR2 Met441Ile M441I not reviewed Insufficiently evaluated not reviewed unknown Array rs34722354 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - DDTL Ile131Val I131V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DDX18 Lys647Arg K647R not reviewed Insufficiently evaluated not reviewed unknown Array rs10179772 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - DDX19A Leu60Ser L60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX19B Ala128Glu A128E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - DDX19B Ala159Glu A159E not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX19B Ala50Glu A50E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX24 Glu372Lys E372K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - DDX24 Ile313Asn I313N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 7 Y 0 N - - DDX24 Gln115Glu Q115E not reviewed Insufficiently evaluated not reviewed unknown Array rs61757452 251 10758 0.0233315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - DDX27 Ala114Val A114V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - DDX27 Gly206Ala G206A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 1 - - DDX27 Glu504Val E504V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DDX31 Arg843Gln R843Q not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - DDX31 Val802Ile V802I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 0 N - - DDX31 Ile686Thr I686T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - DDX31 Ser538Leu S538L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - DDX31 Glu521Lys E521K not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - DDX31 Asn152Lys N152K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - DDX3Y Ala248Ser A248S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DDX4 Val363Ala V363A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DDX4 Val397Ala V397A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - DDX41 Leu548Pro L548P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DDX42 Val144Ile V144I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DDX42 Glu222Gly E222G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - DDX43 Thr100Ala T100A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - DDX43 Gly144Arg G144R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX43 Lys259Glu K259E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - 0 - 1 N - - DDX43 Ala286Asp A286D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DDX43 Arg314Lys R314K not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -3 - 2 N - - DDX47 Val18Ala V18A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DDX49 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array rs35802425 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 1 - 3 - - DDX49 Arg453Stop R453X not reviewed Insufficiently evaluated not reviewed unknown Array rs36078704 177 10704 0.0165359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DDX5 Thr69Ala T69A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - DDX53 Val62Ala V62A not reviewed Insufficiently evaluated not reviewed unknown Array rs4412516 615 8761 0.0701975 8 0 12 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - DDX54 Lys752Arg K752R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - DDX54 Leu499Pro L499P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - DDX55 Phe43Ser F43S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DDX55 Ser522Pro S522P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 3 - 1 N - - DDX56 Glu161Gly E161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.911 - - 6 Y 2 N - - DDX60 Ala950Thr A950T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX60 Ile695Thr I695T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - DEAF1 Thr547Ser T547S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - DECR1 Lys333Arg K333R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.578 Y - -3 - 2 N - - DEF6 Gln621Pro Q621P not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 4 Y 2 - 1 - - DEFA6 Glu35Asp E35D not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - DEFB114 Phe69Leu F69L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 0 - 1 N - - DEFB114 Asp27Gly D27G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 4 Y 1 N - - DEFB119 Arg62Thr R62T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - DEFB119 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DEFB126 Met51Ile M51I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.55 - - -1 - 1 N - - DEFB126 Thr105Ser T105S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DEFB129 Lys84Arg K84R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - DEFB129 Val117Phe V117F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - DENND1A Thr519Met T519M not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - 2 - 2 N - - DENND1C Leu735Pro L735P not reviewed Insufficiently evaluated not reviewed unknown Array 32 9624 0.00332502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.704 - - 7 Y 1 N - - DENND1C Met569Leu M569L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - DENND1C Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs10416003 130 9856 0.0131899 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - DENND2C Val610Ala V610A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DENND2D Leu330Pro L330P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - DENND2D Glu293Lys E293K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - 0 - 0 N - - DENND3 Asp819Asn D819N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.658 - - -1 - 1 N - - DENND3 Pro901Leu P901L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DENND4C Phe756Leu F756L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - DENND5A Leu1020Pro L1020P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 7 Y 0 N - - DENND5B Ser262Thr S262T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - DEPDC1B Val209Ile V209I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DEPDC5 Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9470 0.000105596 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DFFA Leu255Phe L255F not reviewed Insufficiently evaluated not reviewed unknown Array rs35783598 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 3 - 1 - - DFNB31 Gly318Arg G318R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DFNB31 Gly701Arg G701R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DFNB31 Val80Ala V80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DGAT2 Met361Ile M361I not reviewed Insufficiently evaluated not reviewed unknown Array rs34113941 328 10758 0.0304889 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.462 - - -1 - 2 - 3 - - DGCR14 Asn462Ser N462S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - DGCR6 Leu115Val L115V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10744 0.0145197 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - DGKA Asp203Gly D203G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 4 Y 0 N - - DGKA Thr241Ile T241I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DGKA Gln391His Q391H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 1 - 1 - - DGKA Phe548Ser F548S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DGKA Ser550Asn S550N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - DGKD Val404Ile V404I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKD Val448Ile V448I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKD Glu598Lys E598K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DGKD Glu642Lys E642K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DGKD Lys643Gln K643Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DGKD Lys687Gln K687Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - DGKH Gly672Ser G672S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - DGKI Ser951Gly S951G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - DGKI Val519Ile V519I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DGKQ Ser939Gly S939G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10740 0.000744878 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGKZ Glu15Gly E15G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DGKZ Gly69Cys G69C not reviewed Insufficiently evaluated not reviewed unknown Array rs901998 178 9798 0.018167 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - DGKZ Arg73Gln R73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11827702 286 9962 0.0287091 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 3 - 3 - - DHCR7 Asp386Glu D386E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.934 Y Y -2 - 4 N - - DHCR7 Asn146Lys N146K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - DHCR7 Gln63His Q63H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -1 - 2 N - - DHDH Arg148Trp R148W not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - DHDH Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array rs3765148 809 10758 0.0751998 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 - 7 - - DHPS Ile245Val I245V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.089 - - -4 - 0 N - - DHRS2 Ser143Gly S143G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHRS2 Leu232Phe L232F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRS3 Leu204Gln L204Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - DHRS4 Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRS4L1 Trp43Gly W43G not reviewed Insufficiently evaluated not reviewed unknown Array 174 10686 0.016283 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS4L1 Leu266Ile L266I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DHRS4L2 Gly43Trp G43W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS4L2 Arg96Trp R96W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS4L2 Asn116Lys N116K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHRS4L2 Leu126Ile L126I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DHRS7 Lys282Asn K282N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - DHRS7 Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10674 0.000281056 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS9 Ile27Thr I27T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - DHRS9 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - DHRS9 Arg92Ser R92S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - DHX15 Val759Ala V759A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - 2 - 0 N - - DHX29 His1268Arg H1268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.888 - - 1 - 2 N - - DHX29 Asn797Ile N797I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 1 N - - DHX29 Met317Ile M317I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10742 0.00204803 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DHX30 Arg1075His R1075H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX30 Arg1114His R1114H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.115 - - 1 - 0 N - - DHX32 Asp301Ala D301A not reviewed Insufficiently evaluated not reviewed unknown Array rs35772239 238 10754 0.0221313 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 1 - 4 - - DHX33 Arg621Gly R621G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - DHX34 Arg170Cys R170C not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DHX34 Asn288Lys N288K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX34 Ala347Val A347V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX34 Ala817Thr A817T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10540 0.00379507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX34 Ser1060Arg S1060R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DHX35 Val442Ile V442I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - DHX35 Met481Ile M481I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DHX36 Ser457Gly S457G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX37 Val986Met V986M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DHX37 Val329Ile V329I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.384 - - -4 - 1 N - - DHX57 Ser480Pro S480P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - DHX57 Pro469Ser P469S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DHX57 Ile57Met I57M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - -1 - 2 N - - DHX58 Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35118457 479 10758 0.044525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.296 - - 0 - 2 - 3 - - DHX8 Arg209His R209H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIAPH2 Asn242Asp N242D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - DICER1 Asp1522Gly D1522G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - DICER1 Thr993Ala T993A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - DIDO1 Arg2209His R2209H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10328 9.6824e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIDO1 Leu1706Val L1706V not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIDO1 Pro1591Ser P1591S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10164 0.000393545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DIDO1 Glu1498Ala E1498A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DIDO1 Ser1138Phe S1138F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DIDO1 Phe1069Cys F1069C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DIO1 Cys130Arg C130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DIO1 Cys146Arg C146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DIO1 Cys194Arg C194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DIP2B Leu1007Pro L1007P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - DIP2B Ala1208Val A1208V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DIP2B Ile1477Met I1477M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.719 - - -1 - 2 - 1 - - DIP2C Ala193Val A193V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - DIS3L Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIS3L Arg211Gln R211Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 1 - 2 - - DIS3L Ala695Val A695V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DIS3L Ala778Val A778V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - DIS3L2 Ala83Gly A83G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.182 - - 1 - 0 N - - DIS3L2 Arg657Cys R657C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - DISP1 His83Asn H83N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - DISP1 Ile370Met I370M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - DISP1 Asn466Asp N466D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DISP1 Asn970Ser N970S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - DISP2 Val1065Met V1065M not reviewed Insufficiently evaluated not reviewed unknown Array 30 10752 0.00279018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIXDC1 Lys232Glu K232E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIXDC1 Lys443Glu K443E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DKFZP761E198 Pro627Leu P627L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DKFZP761E198 Gly278Ser G278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DKK2 Arg150Gln R150Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.454 - - 0 - 1 N - - DKK3 Glu309Gly E309G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - DKK4 Gly117Glu G117E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DKKL1 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35389403 54 10642 0.00507423 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 2 - 2 - - DLAT Ser512Asn S512N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DLC1 Lys311Glu K311E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLC1 Thr263Pro T263P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DLEC1 Glu288Gly E288G not reviewed Insufficiently evaluated not reviewed unknown Array 71 9928 0.00715149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - DLEC1 His922Leu H922L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - DLG1 Pro78Leu P78L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 7 Y 1 N - - DLG3 Ser352Gly S352G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - DLG3 Ser151Gly S151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - DLG3 Ser488Gly S488G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - DLG3 Phe476Ser F476S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - DLG3 Phe781Ser F781S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - DLG5 Arg903His R903H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.805 - - 1 - 1 N - - DLG5 Glu454Gly E454G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - DLG5 Asp318Glu D318E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.328 - - -2 - 1 N - - DLG5 Arg190Gly R190G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - DLGAP1 Asp587Gly D587G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DLGAP1 Asp889Gly D889G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DLGAP4 Ala260Thr A260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLGAP4 Ala428Thr A428T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLGAP4 Ala964Thr A964T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLGAP5 Glu753Gln E753Q not reviewed Insufficiently evaluated not reviewed unknown Array 140 10752 0.0130208 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.337 - - -2 - 1 N - - DLGAP5 Gln649Arg Q649R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - 0 - 1 N - - DLK1 Ser260Asn S260N not reviewed Insufficiently evaluated not reviewed unknown Array 544 10750 0.0506047 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 7 - - DLX1 Ser62Pro S62P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DMBT1 Ser52Trp S52W not reviewed Insufficiently evaluated not reviewed unknown Array 586 9702 0.0603999 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 2 - 1 - - DMBT1 Ser343Thr S343T not reviewed Insufficiently evaluated not reviewed unknown Array 455 9740 0.0467146 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.417 - - -2 - 1 N - - DMBT1 Arg1373Leu R1373L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DMBT1 Arg1991Leu R1991L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DMBT1 Arg2001Leu R2001L not reviewed Insufficiently evaluated not reviewed unknown Array 96 9862 0.00973433 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.869 - - 6 Y 2 N - - DMBT1 Glu1411Lys E1411K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMBT1 Glu2029Lys E2029K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMBT1 Glu2039Lys E2039K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10028 0.00259274 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.807 - - 0 - 1 N - - DMD Glu1543Gly E1543G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.971 Y Y 6 Y 4 N - - DMD Glu1546Gly E1546G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Glu158Gly E158G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Glu2764Gly E2764G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Glu2879Gly E2879G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.963 Y Y 6 Y 4 N - - DMD Glu2883Gly E2883G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Glu2887Gly E2887G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.158 Y Y 6 Y 2 N - - DMD Glu427Gly E427G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Asn1549Lys N1549K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Asn1664Lys N1664K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Asn1668Lys N1668K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Asn1672Lys N1672K not reviewed Insufficiently evaluated not reviewed unknown Array rs16990264 215 8759 0.0245462 2 0 4 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 1 - 5 - 2 - - DMD Asn328Lys N328K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Asn331Lys N331K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - DMD Phe1265Val F1265V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DMD Phe1380Val F1380V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DMD Phe1384Val F1384V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DMD Phe1388Val F1388V not reviewed Insufficiently evaluated not reviewed unknown Array rs28715870 282 8759 0.0321955 3 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - DMD Phe44Val F44V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - DMD Phe47Val F47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - DMD Asp395Glu D395E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - DMD Asp510Glu D510E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 6 - - DMD Asp514Glu D514E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DMD Asp518Glu D518E not reviewed Insufficiently evaluated not reviewed unknown Array 113 8759 0.012901 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.976 Y Y -2 - 5 - 1 - - DMD Glu361Gly E361G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - DMD Glu476Gly E476G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y 6 Y 2 N - - DMD Glu480Gly E480G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMD Glu484Gly E484G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 6 Y 4 N - - DMGDH Arg719Cys R719C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DMGDH Ser597Pro S597P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - DMKN Ser276Gly S276G not reviewed Insufficiently evaluated not reviewed unknown Array 222 10616 0.0209118 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMP1 Gln66Glu Q66E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - DMP1 Gln82Glu Q82E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.481 Y - -2 - 2 N - - DMP1 Lys447Arg K447R not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - DMP1 Lys463Arg K463R not reviewed Insufficiently evaluated not reviewed unknown Array rs34661425 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 3 - 2 - - DMPK Ala455Thr A455T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMPK Ala460Thr A460T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMPK Ala470Thr A470T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMRT3 Asn261Thr N261T not reviewed Insufficiently evaluated not reviewed unknown Array rs7854621 348 10758 0.032348 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DMRTA1 Pro326Ser P326S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - DMRTB1 Tyr41His Y41H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -1 - 2 N - - DMTF1 Gln153Leu Q153L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMTF1 Gln65Leu Q65L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMTF1 Thr330Met T330M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMTF1 Thr418Met T418M not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMTF1 Asp471Gly D471G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DMTF1 Asp559Gly D559G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DMXL1 Cys1239Ser C1239S not reviewed Insufficiently evaluated not reviewed unknown Array 182 10756 0.0169208 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DMXL1 Leu1898Pro L1898P not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DMXL1 Gln1926Arg Q1926R not reviewed Insufficiently evaluated not reviewed unknown Array 157 10754 0.0145992 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - DMXL1 Gln2058Arg Q2058R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - DMXL1 Thr2257Ala T2257A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DMXL2 Asp1943Gly D1943G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DMXL2 Ile1445Thr I1445T not reviewed Insufficiently evaluated not reviewed unknown Array rs61995718 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - DMXL2 Gly648Ser G648S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - DMXL2 Asp618Gly D618G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - DMXL2 Glu285Gly E285G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 6 Y 1 N - - DNAH1 Ser1763Leu S1763L not reviewed Insufficiently evaluated not reviewed unknown Array rs61739896 199 10114 0.0196757 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH1 Asn1941Ser N1941S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH1 Arg3041Cys R3041C not reviewed Insufficiently evaluated not reviewed unknown Array rs61731638 201 10420 0.0192898 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH10 Leu267Arg L267R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH10 Gly756Ser G756S not reviewed Insufficiently evaluated not reviewed unknown Array 231 10752 0.0214844 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH10 Asp1767Glu D1767E not reviewed Insufficiently evaluated not reviewed unknown Array 869 9686 0.0897171 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DNAH10 Arg1865Lys R1865K not reviewed Insufficiently evaluated not reviewed unknown Array 562 10308 0.0545208 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - DNAH10 Arg2403Trp R2403W not reviewed Insufficiently evaluated not reviewed unknown Array 138 9676 0.0142621 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - DNAH10 Ser2615Leu S2615L not reviewed Insufficiently evaluated not reviewed unknown Array 138 9612 0.0143571 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH11 Ile1628Thr I1628T not reviewed Insufficiently evaluated not reviewed unknown Array 6 9660 0.000621118 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Leu1821Ile L1821I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9722 0.000205718 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - DNAH11 Pro2725Ser P2725S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Val4104Ile V4104I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - DNAH11 Asp4177His D4177H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH12 Arg2872Gln R2872Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH12 Tyr2740Phe Y2740F not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - DNAH12 Asn2354Ser N2354S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH12 Arg1748Cys R1748C not reviewed Insufficiently evaluated not reviewed unknown Array 25 3178 0.00786658 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - DNAH12 Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH14 Asp991His D991H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH14 Val1361Met V1361M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH14 Ala3220Gly A3220G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH14 Leu3872Val L3872V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH14 Lys4017Thr K4017T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH2 Ala1058Thr A1058T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH2 Gln1379Lys Q1379K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - DNAH2 Thr3575Met T3575M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - DNAH3 Lys2969Arg K2969R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - -3 - 1 N - - DNAH3 Ala1964Gly A1964G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH3 Lys1682Asn K1682N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DNAH3 Ile1565Met I1565M not reviewed Insufficiently evaluated not reviewed unknown Array rs330150 22 128 0.171875 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 1 N - - DNAH3 Val1047Met V1047M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.406 - - 0 - 1 N - - DNAH3 Met445Val M445V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - DNAH3 Ala360Ser A360S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH3 Lys169Ile K169I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - DNAH5 Pro4488Thr P4488T benign Low clinical importance, Uncertain benign unknown Array 503 10758 0.0467559 4 0 4 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.999 Y Y 4 Y 5 Y 0 0 Probably benign. DNAH5 Ile4302Met I4302M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.291 Y Y -1 - 3 N - - DNAH5 Thr3831Ser T3831S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.804 Y Y -2 - 3 N - - DNAH5 Glu3804Gly E3804G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 6 Y 4 N - - DNAH5 Arg3077Gln R3077Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 N - - DNAH5 Arg2713Cys R2713C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - DNAH5 Ile2663Val I2663V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - DNAH5 Gly2464Ser G2464S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 2 - 4 N - - DNAH5 Arg2425His R2425H not reviewed Insufficiently evaluated not reviewed unknown Array rs35900306 267 10758 0.0248187 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 1 - 4 N - - DNAH5 Pro2239Ser P2239S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y 3 - 4 N - - DNAH5 Ala1259Thr A1259T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 1 - 2 N - - DNAH5 Ile1217Thr I1217T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.127 Y Y 3 - 2 N - - DNAH5 Glu895Lys E895K not reviewed Insufficiently evaluated not reviewed unknown Array 170 10750 0.015814 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DNAH5 Trp10Arg W10R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 N - - DNAH6 Ile1050Thr I1050T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - DNAH6 Ser2268Asn S2268N not reviewed Insufficiently evaluated not reviewed unknown Array 88 3234 0.0272109 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - DNAH7 Val3804Ile V3804I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9636 0.000103777 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH7 Met3636Val M3636V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - DNAH7 Ala733Glu A733E not reviewed Insufficiently evaluated not reviewed unknown Array 24 9464 0.00253593 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - DNAH8 Arg25Cys R25C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 1 N - - DNAH8 Asn119Thr N119T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH8 Glu330Gly E330G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 6 Y 0 N - - DNAH8 Gln678Arg Q678R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - 0 - 1 N - - DNAH8 Val800Ile V800I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH8 Leu1684Phe L1684F not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - DNAH8 Ser2069Asn S2069N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 2 N - - DNAH8 Gln2641Arg Q2641R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - DNAH8 His3518Arg H3518R not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH9 Met277Val M277V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - DNAH9 Arg297Gly R297G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 6 Y 1 N - - DNAH9 Glu466Gly E466G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DNAH9 Arg630His R630H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH9 Pro983Gln P983Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - DNAH9 Arg990His R990H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745415 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH9 Leu1222Pro L1222P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - DNAH9 Ser1744Gly S1744G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - DNAH9 Arg3672Stop R3672X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DNAH9 Ala261Thr A261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH9 Ala3949Thr A3949T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 1 - 2 N - - DNAH9 Lys286Met K286M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH9 Lys3974Met K3974M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.929 - - 4 Y 2 N - - DNAH9 Trp4462Arg W4462R not reviewed Insufficiently evaluated not reviewed unknown Array rs8074656 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 4 - - DNAH9 Trp774Arg W774R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - DNAI1 Ser5Pro S5P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.774 Y Y 3 - 3 N - - DNAI1 Lys171Glu K171E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DNAI1 Pro660His P660H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 4 N - - DNAI1 Ala679Pro A679P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 2 - 2 N - - DNAI2 Glu137Lys E137K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.033 - Y 0 - 1 N - - DNAJA1 Gln274Glu Q274E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - -2 - 1 N - - DNAJA3 Ala156Val A156V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - DNAJA4 Thr16Ala T16A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAJA4 Val123Ala V123A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJA4 Val152Ala V152A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJA4 Val96Ala V96A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJB1 His244Leu H244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - DNAJB12 Gln94His Q94H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAJB13 Ile296Val I296V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - DNAJB14 Ile256Val I256V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAJB4 Ala188Ser A188S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DNAJB4 Cys265Arg C265R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - DNAJB7 Phe138Ser F138S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 5 Y 1 N - - DNAJC11 Arg201Stop R201X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DNAJC12 Cys129Trp C129W not reviewed Insufficiently evaluated not reviewed unknown Array rs36099123 254 10758 0.0236103 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNAJC12 Met124Ile M124I not reviewed Insufficiently evaluated not reviewed unknown Array rs35690028 254 10758 0.0236103 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAJC13 Ile732Leu I732L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJC13 Thr1223Ala T1223A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAJC13 Val1525Ala V1525A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJC13 Glu1740Asp E1740D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJC13 Arg1830Ser R1830S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJC13 Arg1872Gln R1872Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAJC15 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.407 - - 6 Y 1 N - - DNAJC18 Gln223Arg Q223R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - DNAJC21 Glu428Lys E428K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - DNAJC24 Asn23Asp N23D not reviewed Insufficiently evaluated not reviewed unknown Array 26 9506 0.00273511 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAJC3 Thr285Ala T285A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAJC30 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array rs61751896 341 10558 0.0322978 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - DNAJC5B Gln10Glu Q10E not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.61 - - -2 - 1 N - - DNAJC6 Thr695Ser T695S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -2 - 0 N - - DNALI1 Ala87Gly A87G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - DNASE1L2 Val104Leu V104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - DNASE1L2 Asp287Asn D287N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - DNASE1L3 Ala268Gly A268G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - DNER Gly480Asp G480D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DNHD1 Phe1043Cys F1043C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNHD1 Pro2755Ser P2755S not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNHD1 Val2756Ala V2756A not reviewed Insufficiently evaluated not reviewed unknown Array 172 3234 0.0531849 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DNLZ Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.339 - - 7 Y 1 N - - DNM1 Ser588Phe S588F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNM2 Val219Ile V219I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 2 - 1 - - DNMBP Val819Ile V819I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DNMBP Ser593Leu S593L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - DNMBP Ala564Thr A564T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - DNMT1 Ile528Met I528M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - -1 - 2 - 3 - - DNMT1 Ile544Met I544M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - DNMT1 Ile311Leu I311L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 6 - - DNMT1 Ile311Phe I311F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - DNMT1 Ile327Leu I327L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 6 - - DNMT1 Ile327Phe I327F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - DNMT3A Leu358Pro L358P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNMT3A Leu547Pro L547P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - DNPEP Arg390Cys R390C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNTT Val37Ile V37I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNTTIP1 Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array rs408911 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DOCK1 Ile1494Met I1494M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 1 - 1 - - DOCK10 Asp2154Asn D2154N not reviewed Insufficiently evaluated not reviewed unknown Array 125 9820 0.0127291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOCK10 His985Arg H985R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK10 Arg884Cys R884C not reviewed Insufficiently evaluated not reviewed unknown Array 5 9676 0.000516742 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOCK10 Lys103Arg K103R not reviewed Insufficiently evaluated not reviewed unknown Array 5 9800 0.000510204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DOCK11 Asp1129Gly D1129G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 4 Y 1 N - - DOCK2 Asn439Ser N439S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOCK2 Ser601Thr S601T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DOCK2 Asn1652Ser N1652S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOCK3 Ala615Ser A615S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOCK3 Cys1958Stop C1958X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DOCK5 Thr1409Ser T1409S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - -2 - 0 N - - DOCK7 Arg1697Gln R1697Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOCK7 Phe818Leu F818L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DOCK8 Asp90Asn D90N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - DOCK8 Asp187Asn D187N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DOCK8 Leu1198Gln L1198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - DOCK9 Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DOCK9 Pro434Leu P434L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - DOHH Met73Val M73V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOK4 Asp118Asn D118N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 1 N - - DOK6 Ser291Leu S291L not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DOLK Leu438Phe L438F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.88 Y Y 0 - 4 N - - DOLPP1 Phe53Tyr F53Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - -4 - 2 N - - DOM3Z Trp131Stop W131X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DONSON Arg553Trp R553W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DOPEY1 Thr1843Asn T1843N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DOPEY1 Ile2343Thr I2343T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOPEY2 Ser718Ala S718A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOPEY2 Leu1804Val L1804V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - DOPEY2 Pro2163Gln P2163Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DPAGT1 Lys84Gln K84Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DPCR1 Thr414Ile T414I not reviewed Insufficiently evaluated not reviewed unknown Array 136 3234 0.0420532 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DPCR1 Thr734Ala T734A not reviewed Insufficiently evaluated not reviewed unknown Array 136 3234 0.0420532 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPCR1 Thr1282Met T1282M not reviewed Insufficiently evaluated not reviewed unknown Array 470 10758 0.0436884 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPEP1 Gly151Asp G151D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - DPEP1 Gly386Val G386V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DPEP2 Glu384Gly E384G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - DPF2 Leu378Ser L378S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 2 N - - DPH1 Leu335Val L335V not reviewed Insufficiently evaluated not reviewed unknown Array rs35394823 665 10144 0.065556 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - DPP3 Leu163Met L163M not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.225 - - -3 - 1 N - - DPP6 Arg745Ser R745S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - DPP6 Arg747Ser R747S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - DPP6 Arg809Ser R809S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - DPP7 Val268Met V268M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP8 Leu348Pro L348P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPP8 Leu364Pro L364P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - DPPA4 Lys17Glu K17E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPRX Glu168Stop E168X not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DPT Arg138Ser R138S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 3 - 1 - - DPY19L2 Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - DPY19L3 Leu281Gln L281Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - DPY19L3 Met350Val M350V not reviewed Insufficiently evaluated not reviewed unknown Array 153 10712 0.014283 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - DPY19L3 Gly667Asp G667D not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - DPYD Thr760Ile T760I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 3 N - - DPYD Ile560Asn I560N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 7 Y 3 N - - DPYD Asp495Gly D495G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 4 Y 3 N - - DPYD Met406Ile M406I not reviewed Insufficiently evaluated not reviewed unknown Array 217 10758 0.020171 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - -1 - 2 - 1 - - DPYS Thr456Met T456M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - DPYSL2 Gln91Arg Q91R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - DPYSL4 Ser226Gly S226G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - DPYSL5 Val357Ile V357I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - -4 - 0 N - - DRAP1 Thr149Ser T149S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DSC1 Phe712Ser F712S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DSC1 Met659Arg M659R not reviewed Insufficiently evaluated not reviewed unknown Array rs28620831 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DSC1 Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSC3 Gln476Leu Q476L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.146 - - 5 Y 0 N - - DSC3 Ser120Leu S120L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - DSCAML1 Met2036Ile M2036I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSCAML1 Gln1441His Q1441H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSCAML1 Met1364Thr M1364T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DSCAML1 Leu1179Pro L1179P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DSCAML1 Met488Val M488V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSCR3 Ser40Thr S40T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DSE Thr215Met T215M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 3 - 1 - - DSE Arg879Trp R879W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.532 - - 7 Y 1 N - - DSEL Lys840Gln K840Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DSEL Lys222Arg K222R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DSG1 Pro776Ser P776S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - DSG1 Val792Ile V792I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSG2 Val515Ile V515I not reviewed Insufficiently evaluated not reviewed unknown Array 74 9996 0.00740296 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.334 Y Y -4 - 3 N - - DSG2 Met863Leu M863L not reviewed Insufficiently evaluated not reviewed unknown Array 64 9596 0.00666944 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -3 - 2 N - - DSG3 Val651Gly V651G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - DSG4 Ala342Val A342V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - DSG4 Ile439Thr I439T not reviewed Insufficiently evaluated not reviewed unknown Array 90 10722 0.00839396 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.468 - - 3 - 2 - 1 - - DSG4 Ile506Val I506V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - - -4 - 0 N - - DSG4 Cys527Tyr C527Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 - - 6 Y 2 N - - DSG4 Ile535Thr I535T not reviewed Insufficiently evaluated not reviewed unknown Array rs7229252 209 10758 0.0194274 4 0 4 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - DSG4 Cys697Trp C697W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - - 7 Y 2 N - - DSG4 His727Gln H727Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - DSG4 Asn979Ile N979I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 - - 7 Y 0 N - - DSG4 Asn998Ile N998I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - DSN1 Ser147Asn S147N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSN1 Ser163Asn S163N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DSN1 Ser56Asn S56N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSP Asp521Glu D521E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.903 Y Y -2 - 5 - 4 - - DSP Gln678Arg Q678R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.955 Y Y 0 - 4 N - - DSP Tyr763Cys Y763C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 6 Y 4 N - - DSP Leu851Pro L851P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.429 Y Y 7 Y 3 N - - DSP Gln1321His Q1321H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.686 Y Y -1 - 3 N - - DSP Arg1341His R1341H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.942 Y Y 1 - 4 N - - DSPP Asp999Glu D999E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DSPP Asn1023Ser N1023S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Cys2572Tyr C2572Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Cys2898Tyr C2898Y not reviewed Insufficiently evaluated not reviewed unknown Array rs57472891 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Cys2927Tyr C2927Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Cys2938Tyr C2938Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Cys3076Tyr C3076Y not reviewed Insufficiently evaluated not reviewed unknown Array 190 9536 0.0199245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Pro2284Ser P2284S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Pro2610Ser P2610S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Pro2639Ser P2639S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Pro2650Ser P2650S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Pro2788Ser P2788S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Lys2102Arg K2102R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DST Lys2428Arg K2428R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DST Lys2457Arg K2457R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DST Lys2468Arg K2468R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DST Lys2606Arg K2606R not reviewed Insufficiently evaluated not reviewed unknown Array 156 9726 0.0160395 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DST Lys1982Glu K1982E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Lys2308Glu K2308E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Lys2337Glu K2337E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Lys2348Glu K2348E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Lys2486Glu K2486E not reviewed Insufficiently evaluated not reviewed unknown Array 2 9468 0.000211237 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Ala1650Val A1650V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Ala1976Val A1976V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Ala2005Val A2005V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - DST Ala2016Val A2016V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Ala2154Val A2154V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DST Lys2573Gln K2573Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - DST Arg1837Gln R1837Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Asp1817Asn D1817N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Arg2290Gly R2290G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Tyr1196His Y1196H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DST Asn1273Lys N1273K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn1302Lys N1302K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn1313Lys N1313K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn1451Lys N1451K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asn947Lys N947K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DST Asp1223Gly D1223G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DST Asp1252Gly D1252G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DST Asp1263Gly D1263G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DST Asp1401Gly D1401G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DST Asp897Gly D897G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DST Leu253Val L253V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu579Val L579V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu608Val L608V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu619Val L619V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Leu757Val L757V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Val99Met V99M not reviewed Insufficiently evaluated not reviewed unknown Array 252 7820 0.0322251 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSTYK Asn407Ser N407S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - DSTYK Gly71Ser G71S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10748 0.000465202 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - DSTYK Leu64Phe L64F not reviewed Insufficiently evaluated not reviewed unknown Array 224 10756 0.0208256 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DTL Ala436Glu A436E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - DTNA Leu76Val L76V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - DTNA Arg339His R339H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DTNA Arg634His R634H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DTNA Arg691His R691H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DTNA Asn357Ser N357S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DTNA Asn652Ser N652S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DTNA Asn709Ser N709S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DTNB Leu227Val L227V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9766 0.000102396 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - DTNBP1 Glu145Stop E145X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - DTNBP1 Glu64Stop E64X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - DTWD1 Glu13Lys E13K not reviewed Insufficiently evaluated not reviewed unknown Array rs11539519 223 10752 0.0207403 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - DTWD1 Ile95Thr I95T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - DTWD2 His268Arg H268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 2 N - - DTX3L Phe329Ser F329S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DULLARD Lys110Asn K110N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUOX1 Trp16Cys W16C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.804 - - 7 Y 1 N - - DUOX1 Arg1464Gly R1464G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - DUOX1 Arg1488His R1488H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 2 N - - DUOX2 Ala1123Thr A1123T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - DUOX2 Glu1017Gly E1017G not reviewed Insufficiently evaluated not reviewed unknown Array 442 10758 0.0410857 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - DUOXA1 Trp399Stop W399X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DUOXA2 Pro275Leu P275L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DUS1L Thr460Ile T460I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 3 - 0 N - - DUS1L Phe384Leu F384L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - DUS3L Arg437Cys R437C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DUS3L Arg294Trp R294W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DUS3L Arg207Leu R207L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10544 0.00531108 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - DUSP10 Ser104Thr S104T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DUSP10 Ser446Thr S446T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.921 - - -2 - 2 N - - DUSP10 Gly24Val G24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DUSP10 Gly366Val G366V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.421 - - 8 Y 1 N - - DUSP13 Arg190Gln R190Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - DUSP13 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUSP13 Arg283Gln R283Q not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUSP13 Ile114Thr I114T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DUSP19 Tyr100Phe Y100F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - DUSP19 Ile109Val I109V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DUSP19 Ile160Val I160V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - DUSP28 Leu28Phe L28F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - DUSP4 Ala28Pro A28P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DUSP5 His224Arg H224R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUSP6 Asp172Glu D172E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DUSP6 Asp318Glu D318E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.341 - - -2 - 1 N - - DUXA His8Arg H8R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.402 - - 1 - 2 - 10 - - DVL1 Ser246Phe S246F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - DVL1 Ala157Thr A157T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735963 746 10678 0.0698633 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DVL3 Glu153Gln E153Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 1 - 1 - - DYM Ser141Gly S141G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729806 143 10752 0.0132999 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DYNC1H1 Lys305Arg K305R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - DYNC1H1 Ile1343Val I1343V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - DYNC1H1 Ala3362Thr A3362T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DYNC1I1 Leu265Pro L265P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYNC1I1 Leu285Pro L285P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYNC1I1 Leu302Pro L302P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - DYNC1LI1 Thr508Arg T508R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.163 - - 3 - 0 N - - DYNC2H1 Glu3709Asp E3709D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DYNC2H1 Leu3717Pro L3717P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYNC2LI1 Trp289Arg W289R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DYNLRB1 Ile21Met I21M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - DYRK1A Ser660Pro S660P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - DYRK1A Ser669Pro S669P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - DYRK3 Arg212Gln R212Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DYRK3 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56079317 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DYRK4 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 2 - 1 - - DYRK4 Val483Ala V483A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DYSF Asp147Gly D147G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.707 Y Y 4 Y 3 N - - DYSF Asp148Gly D148G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DYSF Ser655Gly S655G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DYSF Ser656Gly S656G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DYSF Ser669Gly S669G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - DYSF Ser670Gly S670G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DYSF Ser686Gly S686G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DYSF Ser687Gly S687G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DYSF Ser700Gly S700G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DYSF Ser701Gly S701G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 2 - 2 N - - DYTN Ser482Thr S482T not reviewed Insufficiently evaluated not reviewed unknown Array 87 9976 0.00872093 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DYTN Glu203Val E203V not reviewed Insufficiently evaluated not reviewed unknown Array 83 9930 0.00835851 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - DYTN Val175Gly V175G not reviewed Insufficiently evaluated not reviewed unknown Array 10 9932 0.00100685 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - DYX1C1 Asn399Ser N399S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - DYX1C1 Thr364Ala T364A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DYX1C1 Thr156Ser T156S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DZIP1L Arg628His R628H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - DZIP3 Val919Ala V919A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - DZIP3 Val993Ile V993I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - E2F3 Asn396Asp N396D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - E2F4 Lys76Asn K76N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - E2F8 Ala675Pro A675P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - E2F8 Glu335Gly E335G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - E2F8 Lys49Met K49M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 4 Y 1 N - - EARS2 Gly431Ala G431A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10404 0.000192233 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EBNA1BP2 Pro131Arg P131R not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - EBNA1BP2 Pro76Arg P76R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - EBPL Arg127Gln R127Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ECD Gln274Glu Q274E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - ECD Arg45Trp R45W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.346 - - 7 Y 2 - 8 - - ECE1 Lys615Arg K615R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - ECE1 Lys619Arg K619R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - ECE1 Lys628Arg K628R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - ECE1 Lys631Arg K631R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.586 - Y -3 - 2 N - - ECE2 Leu114Val L114V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECE2 Leu186Val L186V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ECE2 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECE2 Leu68Val L68V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECE2 Arg374Gln R374Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ECE2 Arg403Gln R403Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECE2 Arg449Gln R449Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECE2 Arg521Gln R521Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECHDC2 Gly211Ser G211S not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ECHDC2 Ile206Asn I206N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ECHDC2 Arg115Pro R115P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ECHDC3 Arg20Cys R20C not reviewed Insufficiently evaluated not reviewed unknown Array rs11558855 809 7594 0.106531 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 1 N - - ECHDC3 Lys76Asn K76N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ECHDC3 Arg281Leu R281L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ECM1 Trp193Stop W193X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ECSIT Asn280Ser N280S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ECSIT Asn66Ser N66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EDA Leu266Pro L266P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 7 Y 5 - 2 - - EDAR Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 3 - 2 - - EDC3 His447Arg H447R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.083 - - 1 - 0 N - - EDC3 Arg144Gly R144G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - EDC4 Pro720Leu P720L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - EDF1 Glu130Gln E130Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EDIL3 Ser245Phe S245F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - EDN1 Lys194Thr K194T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - EDN2 Glu167Gln E167Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - EDN3 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - EDNRB Leu301Stop L301X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - EDNRB Tyr281His Y281H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.623 Y Y -1 - 3 N - - EEA1 His599Arg H599R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - EEF2 His769Gln H769Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.167 - - -1 - 0 N - - EEF2 His108Gln H108Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 3 - - EEF2K Val483Ile V483I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 0 N - - EEFSEC Phe463Leu F463L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EFCAB5 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 720 9616 0.0748752 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EFCAB5 Gln231Glu Q231E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFCAB5 Gln287Glu Q287E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.286 - - -2 - 1 N - - EFCAB5 Arg505Ser R505S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EFCAB5 Arg561Ser R561S not reviewed Insufficiently evaluated not reviewed unknown Array rs9900546 1033 10104 0.102237 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EFCAB5 Arg869Stop R869X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFCAB5 Val1376Leu V1376L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - EFCAB6 Asp1220Asn D1220N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFCAB6 Asp1372Asn D1372N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - EFCAB6 Ile669Leu I669L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFCAB6 Ile821Leu I821L not reviewed Insufficiently evaluated not reviewed unknown Array rs35053047 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - EFCAB6 Thr389Met T389M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFCAB6 Thr541Met T541M not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 2 - 2 N - - EFCAB6 Thr389Ala T389A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB6 Thr541Ala T541A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 1 N - - EFCAB7 Val553Met V553M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - EFCAB8 Arg501Met R501M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EFCAB8 Gly610Ala G610A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB8 Gly987Glu G987E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFEMP2 Val316Leu V316L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.01 - - 0 - 0 N - - EFEMP2 Asp283Gly D283G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 4 Y 2 N - - EFHA1 Arg304Gly R304G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - EFHA1 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - EFHB Arg760Gln R760Q not reviewed Insufficiently evaluated not reviewed unknown Array 555 10758 0.0515895 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - EFHC1 Phe103Cys F103C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 4 Y 3 N - - EFHC1 His162Tyr H162Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - -1 - 1 N - - EFR3A Lys265Asn K265N not reviewed Insufficiently evaluated not reviewed unknown Array rs61740223 171 10732 0.0159337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFR3A Met630Val M630V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EFS Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EFS Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9592 0.000208507 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - EFTUD2 Glu115Gly E115G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - EFTUD2 Glu80Gly E80G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EGF Ser664Pro S664P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - EGF Asn971Ser N971S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.328 - - 0 - 1 N - - EGF Ala1084Gly A1084G not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 1 - 4 - - EGFL8 Glu111Gly E111G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - EGFLAM Arg129Trp R129W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - EGFR Arg521Met R521M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.099 Y - 4 Y 1 N - - EGFR Arg521Thr R521T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - EGFR Cys686Tyr C686Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - EHBP1L1 Ala95Thr A95T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9910 0.000302724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - EHBP1L1 Met959Lys M959K not reviewed Insufficiently evaluated not reviewed unknown Array 26 9542 0.00272479 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 4 Y 2 N - - EHD2 Lys448Asn K448N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - EHD4 Ser532Leu S532L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 6 Y 2 N - - EHHADH Val303Ile V303I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EHMT1 Leu663Pro L663P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - EHMT1 Gln752Arg Q752R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EID1 Phe156Ile F156I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - EIF2A Thr65Ser T65S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EIF2AK2 Leu177Val L177V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF2AK3 Asp566Gly D566G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - EIF2AK3 Lys553Arg K553R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - EIF2B1 Leu171Phe L171F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - EIF2B3 Glu179Gln E179Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.293 Y Y -2 - 3 N - - EIF2B5 Asp415Glu D415E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.035 Y Y -2 - 2 N - - EIF2B5 Glu536Asp E536D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - EIF2C2 Leu413Pro L413P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 7 Y 2 N - - EIF3A Met1042Leu M1042L not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.676 - - -3 - 1 N - - EIF3A Glu813Ala E813A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF3C Asn62Ile N62I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - EIF3CL Asn62Ile N62I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EIF3K Lys204Arg K204R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - -3 - 1 N - - EIF3L Ala117Asp A117D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EIF3M His205Leu H205L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - EIF4A3 Lys242Arg K242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - EIF4E1B Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73332163 11 10348 0.00106301 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4ENIF1 Gly649Cys G649C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EIF4G1 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 2 - 1 N - - EIF4G1 Pro1033Ala P1033A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EIF4G1 Pro1065Ala P1065A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EIF4G1 Pro1142Ala P1142A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - EIF4G1 Pro1229Ala P1229A not reviewed Insufficiently evaluated not reviewed unknown Array 47 10754 0.00437047 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.824 - - 2 - 2 - 2 - - EIF4G2 Glu2Lys E2K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.795 - - 0 - 2 - 10 - - EIF4G3 Met1327Thr M1327T not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - EIF4G3 Asp1185Glu D1185E not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - EIF4G3 Glu1168Gly E1168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 6 Y 2 N - - EIF4G3 Gln500His Q500H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.824 - - -1 - 1 N - - EIF4G3 Ile279Val I279V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - EIF4G3 Asp153Gly D153G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - EIF5A Asn113Tyr N113Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EIF5A Asn83Tyr N83Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - 5 Y 1 N - - EIF5B Lys522Arg K522R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 5 - - EIF5B Lys522Ile K522I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - EIF5B Ser588Cys S588C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF6 Ala97Pro A97P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EIF6 Arg57Pro R57P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 1 - - ELAC2 Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ELANE Val219Ile V219I not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -4 - 2 N - - ELF1 Thr542Ile T542I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ELF1 Thr566Ile T566I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ELF1 Ala165Val A165V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ELF1 Ala189Val A189V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ELFN2 Ala575Thr A575T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - ELK4 Val113Ala V113A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ELL Met265Ile M265I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.291 - - -1 - 1 N - - ELL2 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ELL3 Pro264Leu P264L not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.045 - - 7 Y 1 - 1 - - ELMO2 Leu224Phe L224F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - ELMO2 Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ELMOD2 Val112Ile V112I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - -4 - 1 N - - ELMOD3 His9Arg H9R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - ELMOD3 Thr70Ile T70I not reviewed Insufficiently evaluated not reviewed unknown Array rs955592 598 10758 0.0555865 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 1 - 2 - - ELOVL1 Ser87Gly S87G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ELOVL1 Val5Met V5M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELOVL3 Val192Met V192M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ELP2 Ile541Thr I541T not reviewed Insufficiently evaluated not reviewed unknown Array rs28463092 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 1 - 2 - - ELP2 Lys682Met K682M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 4 Y 2 N - - ELSPBP1 Pro185Thr P185T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - EMCN Val105Ile V105I not reviewed Insufficiently evaluated not reviewed unknown Array 241 10756 0.0224061 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.471 - - -4 - 1 N - - EMILIN1 Val860Leu V860L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - EMILIN1 Val906Met V906M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10560 0.000473484 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - EMILIN2 Asn73Asp N73D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EMILIN2 Ala215Thr A215T not reviewed Insufficiently evaluated not reviewed unknown Array rs16943977 241 10758 0.0224019 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EMILIN2 Thr243Lys T243K not reviewed Insufficiently evaluated not reviewed unknown Array rs36046935 162 10758 0.0150586 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMILIN2 Asp398Gly D398G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - EMILIN2 Thr411Ala T411A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EMILIN2 Asp491His D491H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EML4 Ser18Phe S18F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - EML4 Pro484Ala P484A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EML4 Pro542Ala P542A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - EML4 Ser860Asn S860N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML4 Ser918Asn S918N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML4 Glu902Lys E902K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML4 Glu960Lys E960K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - EMP3 Phe84Ser F84S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - EMR1 Lys79Thr K79T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR1 Thr398Met T398M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMR1 Val812Ala V812A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMR1 Thr885Met T885M not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMR2 Asn498Ser N498S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Asn536Ser N536S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Asn547Ser N547S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Asn580Ser N580S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Asn591Ser N591S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Asn629Ser N629S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - EMR2 Asn640Ser N640S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - EMR2 Arg487Gln R487Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Arg525Gln R525Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Arg536Gln R536Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Arg569Gln R569Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Arg580Gln R580Q not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Arg618Gln R618Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Arg629Gln R629Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - EMR2 Tyr150Ser Y150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EMR2 Tyr199Ser Y199S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EMR2 Tyr243Ser Y243S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EMR2 Tyr292Ser Y292S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - EMR3 Ser224Asn S224N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - EMR3 Thr144Ala T144A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - ENAH Glu468Gly E468G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - ENAM His380Arg H380R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ENAM Pro419Leu P419L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ENAM Gly872Val G872V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ENAM Asn885Ser N885S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENAM Arg946Thr R946T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENC1 Lys520Asn K520N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 1 - 1 - 2 - - ENC1 Leu154Pro L154P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - 7 Y 1 N - - ENDOD1 Arg208Gly R208G not reviewed Insufficiently evaluated not reviewed unknown Array 230 10024 0.0229449 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - ENGASE Glu731Lys E731K not reviewed Insufficiently evaluated not reviewed unknown Array rs11871357 416 9940 0.0418511 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 1 - 1 - - ENKUR Pro15Leu P15L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ENO1 Asp245Glu D245E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - ENO3 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array rs61735456 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - ENOSF1 Leu356Phe L356F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENOSF1 Leu438Phe L438F not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENOSF1 Leu445Phe L445F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENPEP Ser381Pro S381P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENPEP Ser861Arg S861R not reviewed Insufficiently evaluated not reviewed unknown Array rs35812243 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENPP1 Glu472Gly E472G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ENPP4 Phe348Leu F348L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - ENPP7 Ala458Gly A458G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 1 - 0 N - - ENTHD1 Trp336Cys W336C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ENTHD1 Arg292Thr R292T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENTHD1 Arg193Ser R193S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - ENTPD2 Arg193Gln R193Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35983961 375 10750 0.0348837 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.456 - - 0 - 1 N - - ENTPD4 Gln327Pro Q327P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ENTPD4 Gln335Pro Q335P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - ENTPD4 Val248Ala V248A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ENTPD5 Ala250Thr A250T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - ENTPD5 Gln96Arg Q96R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ENTPD5 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ENTPD8 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array 143 10666 0.0134071 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EOMES Val610Met V610M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EP300 Met154Thr M154T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - EP300 Phe1448Leu F1448L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - EP300 Asp1539Glu D1539E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - EP300 Gln2222Arg Q2222R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - EP400 Ala470Val A470V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EP400 Pro605Leu P605L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EP400 Glu943Gly E943G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EP400 Ser1774Ile S1774I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EPAS1 Pro582Ala P582A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 1 N - - EPAS1 Asn636Lys N636K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 1 - 1 - 1 - - EPAS1 Arg658His R658H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10722 0.000373064 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPAS1 Pro752Leu P752L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - EPAS1 Gln809His Q809H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 1 N - - EPB41 Pro61Arg P61R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - EPB41 Glu71Gly E71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 6 Y 2 N - - EPB41L1 Arg498Cys R498C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EPB41L1 Arg572Cys R572C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - EPB41L3 Ile115Met I115M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPB41L4A Lys395Arg K395R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EPB41L5 Lys64Arg K64R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - EPB41L5 Asn481Asp N481D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPB41L5 Leu717Val L717V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPB42 Asp116Tyr D116Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPB42 Asp86Tyr D86Y not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPB49 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 116 10744 0.0107967 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPB49 Lys206Met K206M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPB49 Lys206Thr K206T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPB49 Lys231Met K231M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPB49 Lys231Thr K231T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPC1 Leu445Pro L445P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - EPC1 Tyr412His Y412H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - EPDR1 Ser339Arg S339R not reviewed Insufficiently evaluated not reviewed unknown Array 260 10758 0.0241681 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPHA1 Gly558Ala G558A not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPHA1 Arg351Leu R351L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPHA1 Met127Ile M127I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - EPHA2 Arg384Gly R384G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPHA2 Arg159His R159H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPHA3 Thr442Met T442M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPHA4 Ser196Pro S196P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - EPHA4 Cys118Arg C118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - EPHA6 Thr28Ile T28I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPHA6 Pro118Ala P118A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPHA7 Asp314Glu D314E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - EPHA8 Gly467Arg G467R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPHA8 Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPHB2 Gly105Val G105V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - EPHB4 Pro208Leu P208L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - EPHB4 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EPHB6 Arg309Gln R309Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10540 0.000569259 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.188 - - 0 - 1 - 1 - - EPHX2 Arg103Cys R103C not reviewed Insufficiently evaluated not reviewed unknown Array rs17057255 392 10758 0.036438 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 2 N - - EPN2 Val116Gly V116G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - EPN2 Val344Gly V344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - EPN2 Val401Gly V401G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - EPN3 Lys151Glu K151E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.12 - - 0 - 0 N - - EPN3 Phe456Ser F456S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - EPPK1 Arg2239His R2239H not reviewed Insufficiently evaluated not reviewed unknown Array 269 10576 0.0254349 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Gln2165Glu Q2165E not reviewed Insufficiently evaluated not reviewed unknown Array 32 10282 0.00311223 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EPPK1 Arg1706His R1706H not reviewed Insufficiently evaluated not reviewed unknown Array 303 10268 0.0295092 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Gly1688Asp G1688D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPPK1 Arg1647His R1647H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Pro939Ala P939A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPPK1 Gly422Ser G422S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9078 0.000550782 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPRS Arg1372Cys R1372C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - EPRS Ala1217Val A1217V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - EPRS Pro893His P893H not reviewed Insufficiently evaluated not reviewed unknown Array rs5030751 483 10758 0.0448968 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 1 - 7 - - EPRS Ala848Thr A848T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EPS15 Ser158Phe S158F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - EPS15L1 Leu284Val L284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPS8 Leu784Phe L784F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 2 - 1 - - EPS8 Leu93Trp L93W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - EPS8L1 Gly208Asp G208D not reviewed Insufficiently evaluated not reviewed unknown Array 250 10158 0.0246111 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 4 Y 0 N - - EPS8L1 Gly81Asp G81D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPS8L1 Tyr557His Y557H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPS8L1 Tyr684His Y684H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - EPS8L1 Val579Ala V579A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPS8L1 Val706Ala V706A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPS8L2 Tyr415Stop Y415X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - EPSTI1 Ala206Thr A206T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - EPSTI1 Glu92Stop E92X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EPSTI1 Arg4His R4H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - EPX Val35Ile V35I not reviewed Insufficiently evaluated not reviewed unknown Array rs34553736 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 1 - 7 - - EPX His496Gln H496Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33955150 147 10758 0.0136642 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 1 - 5 - - EPX Leu522Pro L522P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ERAF Pro100Thr P100T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERAL1 Arg112Trp R112W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ERAP1 Arg940His R940H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - ERAP1 Met219Thr M219T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 2 N - - ERAP1 Lys7Arg K7R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - ERAP2 Gln295Leu Q295L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ERAP2 Gly556Arg G556R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - 6 Y 0 N - - ERAP2 Leu669Ile L669I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - -2 - 2 N - - ERAP2 Ser692Asn S692N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERBB2 Pro167Leu P167L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ERBB2 Pro197Leu P197L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.863 - - 7 Y 2 N - - ERBB2 Ile625Phe I625F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - ERBB2 Ile655Phe I655F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 2 - 10 - - ERBB4 Leu1008Trp L1008W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - ERBB4 Gln21His Q21H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - -1 - 1 N - - ERC2 Leu753Arg L753R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - ERCC4 Ala168Gly A168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.129 - Y 1 - 1 N - - ERCC4 Glu647Gly E647G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.406 - Y 6 Y 2 N - - ERCC5 Leu6Pro L6P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - ERCC5 Ile295Thr I295T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - ERCC5 Pro441Leu P441L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - ERCC6 Arg1213Ile R1213I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 7 Y 4 N - - ERCC6 Thr699Met T699M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 2 - 5 - 1 - - EREG Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - ERF Gly398Ser G398S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ERF Leu36Pro L36P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 3 - 3 - - ERI1 Phe122Cys F122C not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERI1 Lys237Arg K237R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - -3 - 0 N - - ERI2 Asn312Ser N312S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERI2 Ile286Val I286V not reviewed Insufficiently evaluated not reviewed unknown Array 176 3226 0.0545567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ERI3 Lys230Arg K230R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.411 - - -3 - 1 N - - ERICH1 Arg403Ser R403S not reviewed Insufficiently evaluated not reviewed unknown Array rs1703879 187 10758 0.0173824 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 3 - 2 - - ERICH1 Asp329Glu D329E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.187 - - -2 - 0 N - - ERMAP Thr192Met T192M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - ERMAP Gly229Ser G229S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 Y Y 2 - 3 N - - ERN1 Ala942Thr A942T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERN1 Thr66Ala T66A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - ERN2 Phe954Leu F954L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERP27 Glu122Lys E122K not reviewed Insufficiently evaluated not reviewed unknown Array rs35042193 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERRFI1 Ile158Leu I158L not reviewed Insufficiently evaluated not reviewed unknown Array rs34974993 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ESCO2 Thr83Ala T83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.095 Y Y 1 - 2 N - - ESCO2 Leu274Val L274V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10750 0.00353488 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ESD Gly190Ala G190A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 1 - 7 - - ESF1 Asn772Ser N772S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - ESF1 Asp292Gly D292G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ESPL1 Ser1239Pro S1239P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ESPL1 Arg1329Ser R1329S not reviewed Insufficiently evaluated not reviewed unknown Array rs35874650 461 10758 0.0428518 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ESPL1 Ala1653Thr A1653T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 0 N - - ESPL1 Gln1989Arg Q1989R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.532 - - 0 - 1 N - - ESPN Ser696Leu S696L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - ESPNL Thr480Met T480M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ESR2 Leu381Pro L381P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ESR2 Ile3Val I3V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 10 - - ESRP1 Ala159Thr A159T not reviewed Insufficiently evaluated not reviewed unknown Array rs73263258 40 9632 0.00415282 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ESRP2 Pro617Ser P617S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 1 - - ESX1 Thr314Pro T314P not reviewed Insufficiently evaluated not reviewed unknown Array 3 5406 0.000554938 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 4 - - ETAA1 Ser753Pro S753P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ETFB Thr154Lys T154K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - ETFB Thr154Arg T154R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.081 Y - 3 - 1 N - - ETFB Thr245Lys T245K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ETFB Thr245Arg T245R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ETV3L Glu31Lys E31K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ETV5 Met207Val M207V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - ETV5 Arg25Trp R25W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ETV6 Arg211His R211H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - ETV7 Arg271Gln R271Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ETV7 His268Arg H268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - EVC Arg190Leu R190L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.926 Y - 6 Y 3 N - - EVC Met546Val M546V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 0 - 1 N - - EVC2 His594Tyr H594Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - -1 - 1 N - - EVC2 Met577Thr M577T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - EVI2A Val107Ile V107I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EVI2A Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EVI2B Asp285His D285H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EVI2B Arg266Cys R266C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EVI2B Gly53Arg G53R not reviewed Insufficiently evaluated not reviewed unknown Array rs9903564 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - EVI5 Glu670Gly E670G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - EVI5 Ala24Thr A24T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EVPL Glu1562Asp E1562D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10726 0.00139847 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EVPL Pro1453Leu P1453L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EVPL Gln1295Arg Q1295R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EVPL Val1074Ala V1074A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EVPL Ser763Arg S763R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EVPL His446Gln H446Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXD1 Ile238Val I238V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EXD1 Gln98Stop Q98X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EXD3 Asp555Gly D555G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - EXD3 Val430Ile V430I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10024 0.00159617 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - EXD3 Glu246Lys E246K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.104 - - 0 - 0 N - - EXD3 Ala122Ser A122S not reviewed Insufficiently evaluated not reviewed unknown Array 349 10330 0.0337851 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - EXD3 Arg17Cys R17C not reviewed Insufficiently evaluated not reviewed unknown Array rs11507687 115 10146 0.0113345 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EXO1 Trp34Arg W34R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - EXO1 Met65Val M65V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - EXO1 Phe335Ser F335S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - EXO1 Gln545Glu Q545E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EXO1 Lys721Glu K721E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC1 Ser337Arg S337R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - EXOC1 Val464Ala V464A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXOC1 Val479Ala V479A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 2 N - - EXOC4 Asn96Asp N96D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - EXOC4 Thr947Met T947M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXOC6 Met799Thr M799T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXOC6 Met804Thr M804T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXOC6B Gln724Leu Q724L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EXOC7 Ile634Thr I634T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC7 Ile637Thr I637T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC7 Ile657Thr I657T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC7 Ile665Thr I665T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC7 Ile688Thr I688T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC7 Ile716Thr I716T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 3 - 1 N - - EXOC8 Val325Ile V325I not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - EXOG Asn126Ser N126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOG Asn176Ser N176S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - EXOSC1 Val56Met V56M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOSC4 Gln75His Q75H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - EXOSC4 Val236Ala V236A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - EXOSC5 Val118Met V118M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 2 N - - EXOSC7 Arg169Gln R169Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34512144 286 10758 0.0265849 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - EXOSC8 Cys60Arg C60R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - EXPH5 Phe1585Cys F1585C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXPH5 Phe1697Cys F1697C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXPH5 Phe1773Cys F1773C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXPH5 Leu1039Pro L1039P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXPH5 Leu1115Pro L1115P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXPH5 Leu927Pro L927P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXPH5 Arg733Gly R733G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Arg845Gly R845G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Arg921Gly R921G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Asn704Tyr N704Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EXPH5 Asn816Tyr N816Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EXPH5 Asn892Tyr N892Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10890850 429 10758 0.0398773 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EXPH5 Val404Ile V404I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EXPH5 Val516Ile V516I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EXPH5 Val592Ile V592I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EXPH5 Arg355Gly R355G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Arg467Gly R467G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Arg543Gly R543G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXT1 Val336Ala V336A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.882 Y Y 2 - 4 N - - EXT2 Cys109Ser C109S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - EXT2 Cys96Ser C96S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 5 - 1 - - EXT2 Thr170Ile T170I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.536 Y Y 3 - 3 N - - EXT2 Thr183Ile T183I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - EXT2 Met174Leu M174L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - EXT2 Met187Leu M187L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - EXTL1 Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - EXTL1 Phe530Ile F530I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - EXTL2 Leu135Pro L135P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - EXTL2 Met14Val M14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 0 - 2 N - - EYA1 Leu479Pro L479P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 N - - EYA1 Leu481Pro L481P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.467 Y Y 7 Y 3 N - - EYA1 Leu514Pro L514P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - EYA2 Asp18Asn D18N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - EYA2 Asp23Asn D23N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EYA2 Arg24Cys R24C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EYA2 Arg29Cys R29C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EYA2 Thr214Ala T214A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EYA2 Thr238Ala T238A not reviewed Insufficiently evaluated not reviewed unknown Array rs866936 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EYA2 Thr243Ala T243A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EYA3 Ser26Gly S26G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EYA4 Ser362Pro S362P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - EYA4 Ser385Pro S385P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.383 Y Y 3 - 4 - 1 - - EYS Ala2797Thr A2797T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - EYS Pro838Ser P838S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - EYS Val834Ile V834I not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - EYS Asp583Ala D583A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - EYS Ser334Gly S334G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - EYS Ser326Asn S326N not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EYS Pro94Gln P94Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 - 3 - - EZH2 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EZH2 Arg213Cys R213C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - EZR Glu377Asp E377D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - F10 Gly104Asp G104D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 3 N - - F13A1 Thr573Met T573M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - F13B Phe42Leu F42L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 4 - 2 - - F2R Ala26Ser A26S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 1 - 5 - - F2R Ala349Val A349V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.253 - - 2 - 1 N - - F2RL1 Arg270Gln R270Q not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 4 - - F2RL3 Met113Val M113V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10540 0.000569259 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - F5 Thr2026Ile T2026I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - F5 Pro1449Leu P1449L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - F7 Glu423Lys E423K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10678 0.000936504 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - F7 Glu445Lys E445K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - F8 Met122Val M122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 2 - - F8 Met2257Val M2257V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800297 742 8761 0.0846935 8 0 12 0 0 - - - - - - - - - - - - Y - - - 0.791 Y Y 0 - 2 N - - F8 Thr121Ala T121A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - F8 Thr2256Ala T2256A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.959 Y Y 1 - 5 - 1 - - FABP12 Phe65Ser F65S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - 4 Y 1 N - - FAM120B Tyr452Cys Y452C not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM120B Gly454Asp G454D not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM120B Leu645Val L645V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FAM120C Asp566Gly D566G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM122C Ser150Asn S150N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM123A Leu439Pro L439P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM123A Leu558Pro L558P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - FAM123B Gly451Arg G451R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.957 - - 6 Y 2 N - - FAM123C Arg318Cys R318C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - FAM123C Leu395Phe L395F not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - FAM124B Leu23Phe L23F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM129A Ser856Asn S856N not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - FAM129A Asp849Glu D849E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - FAM129A Pro645Leu P645L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 7 Y 2 N - - FAM129A Asn379His N379H not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - FAM129A Phe171Leu F171L not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM129A Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - FAM129B Val415Leu V415L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM129B Val428Leu V428L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM129B Tyr210Cys Y210C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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6 Y 1 N - - FAM151A Arg167Gln R167Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.705 - - 0 - 1 N - - FAM151B His69Arg H69R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.755 - - 1 - 1 N - - FAM154A Phe432Tyr F432Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -4 - 2 N - - FAM154A Pro364Ser P364S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - FAM154A Pro267Ser P267S not reviewed Insufficiently evaluated not reviewed unknown Array 271 10758 0.0251906 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.544 - - 3 - 1 N - - FAM154B Arg31Cys R31C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 2 N - - FAM155B Ala368Val A368V not reviewed Insufficiently evaluated not reviewed unknown Array 6 8761 0.000684853 0 0 0 0 0 - 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- - - - - - - - - - - - - - - 0.846 - - 4 Y 1 N - - FAM160B2 Gly631Arg G631R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM161B Arg367Gln R367Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - FAM161B Glu23Lys E23K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM164A Thr244Ala T244A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM166A Leu251Val L251V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM171A1 Val789Leu V789L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM171A1 Gln773His Q773H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.671 - - -1 - 1 N - - FAM172A Thr106Ala T106A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - FAM174A Gly78Asp G78D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 4 Y 2 N - - FAM176A Val12Met V12M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - FAM178A Glu264Lys E264K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - FAM178A Ser463Gly S463G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM179A Pro198Ser P198S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10066 0.00208623 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - FAM179A Arg772Trp R772W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 0 0 0 0 0 - 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2 N - - FAM20B Ile363Thr I363T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 3 - 1 N - - FAM33A Val52Ala V52A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Arg2069Ser R2069S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - FAM38A Arg2069Gly R2069G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - FAM38A Arg2025Trp R2025W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM38A Arg1768Cys R1768C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM38A Thr1759Pro T1759P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - FAM38A Glu1446Val E1446V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM38A Gly1271Ser G1271S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Ser1193Gly S1193G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Ser907Ala S907A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - FAM38A Arg781Cys R781C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM3C Asn158Asp N158D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - -1 - 1 N - - FAM40A Asn120Ser N120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - 0.793 - - 4 Y 1 N - - FAM47C Arg33Cys R33C not reviewed Insufficiently evaluated not reviewed unknown Array 10 8753 0.00114247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.066 - - 8 Y 0 N - - FAM48B1 Pro518Ala P518A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM48B1 Ala526Pro A526P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM48B1 Ala639Thr A639T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM48B2 Pro689Leu P689L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM49B Met197Ile M197I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - -1 - 2 N - - FAM53B Asn175Asp N175D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM54A Leu214Pro L214P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - FAM55D Asn169Ser N169S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM55D Asn453Ser N453S not reviewed Insufficiently evaluated not reviewed unknown Array 21 9704 0.00216406 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 0 - 0 N - - FAM55D Ile109Thr I109T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM55D Ile393Thr I393T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - FAM55D Thr205Ile T205I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10746 0.00223339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 3 - 0 N - - FAM55D Arg129Cys R129C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10738 0.000279381 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 8 Y 0 N - - FAM55D Thr57Arg T57R not reviewed Insufficiently evaluated not reviewed unknown Array 22 9898 0.00222267 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - FAM58B Arg117Cys R117C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 8 Y 2 N - - FAM59A Ile837Val I837V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM59A Phe264Ser F264S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 5 Y 2 N - - FAM59A Ser186Pro S186P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 3 - 1 N - - FAM5B His66Tyr H66Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -1 - 0 N - - FAM5C Asp321Gly D321G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM65B Ser402Cys S402C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM65B Ser452Cys S452C not reviewed Insufficiently evaluated not reviewed unknown Array rs34298086 336 9992 0.0336269 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM65B Glu374Lys E374K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM65B Glu424Lys E424K not reviewed Insufficiently evaluated not reviewed unknown Array rs34016544 331 9856 0.0335836 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM65B Ala145Gly A145G not reviewed Insufficiently evaluated not reviewed unknown Array rs11967003 198 9724 0.020362 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - FAM71A Lys34Met K34M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - FAM71A Gly492Ser G492S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - FAM71B Thr381Met T381M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - FAM71B Tyr15Cys Y15C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 6 Y 0 N - - FAM71C Arg65Pro R65P not reviewed Insufficiently evaluated not reviewed unknown Array rs35471478 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - FAM71C Val196Ala V196A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - FAM71D Leu415Arg L415R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 6 Y 0 N - - FAM71E1 Leu51Val L51V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - 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- FAM86A Ser89Cys S89C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 6 - - FAM86A Thr121Ala T121A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - 1 - 1 N - - FAM86A Thr87Ala T87A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM86C Ala123Thr A123T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM86C Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - FAM86C Ala96Thr A96T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM8A1 Ala252Val A252V not reviewed Insufficiently evaluated not reviewed unknown Array 366 10756 0.0340275 0 0 0 0 0 - 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- -1 - 1 N - - FANCA Ser1340Phe S1340F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.774 Y Y 5 Y 3 N - - FANCA Ser700Leu S700L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANCA Ile493Thr I493T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FANCA Val295Met V295M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.445 Y Y 0 - 3 N - - FANCA Ala181Val A181V not reviewed Insufficiently evaluated not reviewed unknown Array rs17232246 651 10758 0.0605131 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.445 Y Y 2 - 3 - 3 - - FANCA Ser165Ala S165A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FANCC Ser264Gly S264G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FANCD2 Ser455Gly S455G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 2 - 2 N - - FANCE Ser204Leu S204L not reviewed Insufficiently evaluated not reviewed unknown Array rs7761870 441 10758 0.0409927 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - FANCE Ser374Pro S374P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 3 - 4 N - - FANCI Cys156Tyr C156Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANCI Ser238Gly S238G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FANCI Val290Met V290M not reviewed Insufficiently evaluated not reviewed unknown Array 192 10758 0.0178472 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FANCI Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FANCI Ser510Gly S510G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FANCI Asn757Ser N757S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FANCI Ile771Val I771V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FANCI Arg1018Gly R1018G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANCI Arg1078Gly R1078G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANCM Ser245Thr S245T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y -2 - 5 - 1 - - FANCM Arg654Trp R654W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FANCM His844Arg H844R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.946 Y Y 1 - 4 N - - FANCM Val986Ile V986I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.6 Y Y -4 - 3 N - - FANCM Gly1014Cys G1014C not reviewed Insufficiently evaluated not reviewed unknown Array 40 10748 0.00372162 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FANCM His1028Tyr H1028Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -1 - 2 N - - FANCM Val1209Ala V1209A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 2 N - - FANCM Tyr1307Cys Y1307C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730251 74 10750 0.00688372 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANCM Asn1369Lys N1369K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.484 Y Y 1 - 3 N - - FANCM Glu1521Asp E1521D not reviewed Insufficiently evaluated not reviewed unknown Array 40 10746 0.00372231 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.463 Y Y -2 - 3 N - - FANCM Ser1735Leu S1735L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FANK1 Thr104Ala T104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 2 N - - FAP Arg663Gly R663G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAP Gly542Asp G542D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAR1 Met378Val M378V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - FARP1 Pro31Leu P31L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - FARP1 Lys89Arg K89R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - FARP1 His802Arg H802R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - FARP2 Val253Ala V253A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 2 N - - FARS2 Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FARS2 Ser4Pro S4P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - FASN Pro1713Leu P1713L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FASN Val1695Ile V1695I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FASN Gly1045Ser G1045S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FASN Arg477His R477H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FASTKD1 Tyr122His Y122H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10728 0.00363535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - FAT2 Glu3858Val E3858V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 5 Y 1 N - - FAT2 Pro3174Leu P3174L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - FAT2 Thr807Ala T807A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - FAT2 Met584Leu M584L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -3 - 2 N - - FAT3 Asn1199Ser N1199S not reviewed Insufficiently evaluated not reviewed unknown Array 37 9554 0.00387272 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - FAT4 Ile897Val I897V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9946 0.000100542 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAT4 Lys937Asn K937N not reviewed Insufficiently evaluated not reviewed unknown Array 40 9868 0.00405351 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 1 - 2 N - - FAT4 Val2245Ile V2245I not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - FAT4 Met2333Val M2333V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FAT4 Leu2594Ser L2594S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAT4 Asp2615Gly D2615G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - FAT4 Ile2776Thr I2776T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - FAT4 Thr3421Ala T3421A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.625 - - 1 - 1 N - - FAT4 Lys3828Glu K3828E not reviewed Insufficiently evaluated not reviewed unknown Array rs17009684 254 10758 0.0236103 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.363 - - 0 - 1 N - - FBF1 Arg256His R256H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9874 0.000202552 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - FBLN1 Ser331Pro S331P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - FBLN1 Asp600Tyr D600Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Cys55Trp C55W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Pro434Ala P434A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBLN2 Gly602Arg G602R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBN1 Glu2796Lys E2796K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN1 Gln2141Stop Q2141X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - FBN1 Cys68Arg C68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FBN2 Glu2783Gln E2783Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FBN2 Gly925Arg G925R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FBN2 Asp619Gly D619G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - FBN2 Asn603Asp N603D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FBN2 Asn522Ser N522S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN3 Pro1216Ala P1216A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBN3 Val1161Ile V1161I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FBN3 Arg796Trp R796W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBP2 Thr224Ala T224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - FBP2 Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 2 N - - FBXL18 Ala531Ser A531S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - FBXL18 Gly30Ala G30A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 1 - 2 N - - FBXL20 Ile260Thr I260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 3 - 1 N - - FBXL20 Leu197Pro L197P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - FBXL21 Phe76Leu F76L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - FBXL5 Lys182Asn K182N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 3 - 2 - - FBXL5 Lys56Asn K56N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - FBXL8 Pro4Ala P4A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.276 - - 2 - 1 N - - FBXO10 Ser569Arg S569R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXO10 Arg382His R382H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10206 0.000195963 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO11 Asp372Gly D372G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXO15 His190Leu H190L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - FBXO15 His266Leu H266L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO15 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - FBXO15 Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO15 Ile115Val I115V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FBXO15 Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FBXO22 Glu136Val E136V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 5 Y 2 N - - FBXO27 Asp190Gly D190G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - FBXO3 Pro302Ser P302S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - FBXO33 Leu480Arg L480R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - FBXO34 Ile107Met I107M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - -1 - 1 N - - FBXO38 Val162Ala V162A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - FBXO38 Ala819Thr A819T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO38 Ala894Thr A894T not reviewed Insufficiently evaluated not reviewed unknown Array rs11949133 347 10758 0.0322551 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO43 Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXO43 Pro322Leu P322L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXO44 Gly189Ala G189A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FBXO47 His429Arg H429R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 1 - 2 N - - FBXO47 Gln263Leu Q263L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - FBXO47 Lys29Glu K29E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO5 Lys362Asn K362N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO5 Lys408Asn K408N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 1 - 1 N - - FBXO7 Leu12His L12H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - FBXO7 Leu12Pro L12P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - FBXO7 Pro146Arg P146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBXO7 Pro225Arg P225R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - FBXO7 Arg281His R281H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO7 Arg360His R360H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - FBXO7 Gly421Ser G421S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXO7 Gly500Ser G500S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXW12 Asp361Asn D361N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXW12 Asp412Asn D412N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXW12 Asp431Asn D431N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - FBXW5 Arg458Gly R458G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - FBXW5 Glu288Val E288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - FBXW7 Pro180Ser P180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXW7 Pro218Ser P218S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXW7 Pro298Ser P298S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - 3 - 2 - 2 - - FBXW8 His519Gln H519Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - FBXW8 His585Gln H585Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - FCAMR Ala407Asp A407D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCAR Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - FCAR Val45Ala V45A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.448 - - 2 - 1 N - - FCER1A Val230Ala V230A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 1 - 2 - - FCF1 Asn77Asp N77D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.89 - - -1 - 2 N - - FCGBP Ser5401Thr S5401T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - -2 - 2 N - - FCGBP Thr4851Ala T4851A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.306 - - 1 - 1 N - - FCGBP Ser1350Pro S1350P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 3 - 1 N - - FCGBP Gly1333Arg G1333R not reviewed Insufficiently evaluated not reviewed unknown Array 82 10754 0.00762507 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - FCGBP Gln1324His Q1324H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - FCGBP Phe1268Leu F1268L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FCGBP His1193Gln H1193Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - FCGBP Met447Arg M447R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.674 - - 4 Y 1 N - - FCGR2A Thr108Ala T108A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGR2A Thr109Ala T109A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGRT Ser297Thr S297T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.565 - - -2 - 1 N - - FCHO1 Ser285Asn S285N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCHO1 Ser335Asn S335N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCHSD2 Met161Val M161V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - FCN2 Pro38Ser P38S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCN2 Pro76Ser P76S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - FCRL2 Asn495Ser N495S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - FCRL2 Arg276Stop R276X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FCRL2 Trp176Stop W176X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FCRL3 Pro379Leu P379L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FCRL3 Leu25Phe L25F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 0 - 1 N - - FCRL5 Ile689Val I689V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FCRL5 Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCRL6 Ala383Val A383V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - FCRLB Glu251Lys E251K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - FDFT1 Lys45Met K45M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 1 - 10 - - FDFT1 Ile297Val I297V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - -4 - 0 N - - FDFT1 Ala333Ser A333S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FDXACB1 Phe385Leu F385L not reviewed Insufficiently evaluated not reviewed unknown Array rs61739323 70 9884 0.00708215 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 1 - 1 - - FDXR Ala427Ser A427S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10754 0.00371955 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FDXR Ala433Ser A433S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FDXR Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 1 - - FDXR Arg288Gln R288Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - FDXR Cys208Trp C208W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FDXR Pro172Leu P172L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - FECH Arg29Ser R29S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - FEM1A Glu279Gly E279G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - FEM1B Val234Ala V234A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - FEM1B Asn493Lys N493K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 1 - 2 - 1 - - FEM1B Leu588Pro L588P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - FER Val110Ala V110A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 1 - 7 - - FER Leu439Val L439V not reviewed Insufficiently evaluated not reviewed unknown Array rs34499946 417 10756 0.0387691 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 1 - 5 - - FER1L5 Ala777Val A777V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FERD3L Ala3Ser A3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -1 - 0 N - - FERMT1 Arg526Gly R526G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.048 Y - 6 Y 1 N - - FERMT1 Lys148Arg K148R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - -3 - 1 N - - FERMT2 Ser414Gly S414G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - FERMT2 Glu412Gly E412G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 6 Y 0 N - - FERMT3 Ala176Val A176V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10748 0.00139561 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FERMT3 Pro207Leu P207L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FETUB Cys16Trp C16W not reviewed Insufficiently evaluated not reviewed unknown Array 382 10758 0.0355085 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FGA Thr456Ala T456A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.858 Y - 1 - 4 - 3 - - FGB Lys160Arg K160R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - -3 - 1 N - - FGD4 Asn223Thr N223T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 1 - 2 N - - FGD5 Pro78Ser P78S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - FGD5 Ser233Leu S233L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FGD5 Val1335Ile V1335I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10172 0.00255604 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FGD5 Ser1342Thr S1342T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FGF1 Phe9Ser F9S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 3 - 3 - - FGF11 Asn128Thr N128T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - FGF11 His138Arg H138R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - FGF21 Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - FGF6 Leu7Gln L7Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - FGFBP2 Arg222Gln R222Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FGFBP2 Gly173Arg G173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - FGFBP2 Gln82Leu Q82L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.861 - - 5 Y 2 N - - FGFR1OP Val345Ala V345A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGFR1OP Val365Ala V365A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - FGFR2 Asn158Ser N158S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - FGFR2 Asn43Ser N43S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR2 Asn69Ser N69S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FGFR3 Ser130Phe S130F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 5 Y 4 N - - FGFR4 Thr179Met T179M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FGFR4 Arg356Cys R356C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FGFRL1 Tyr97Stop Y97X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FGGY Ile362Val I362V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FGL1 Gln53Arg Q53R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FGL1 Ala2Gly A2G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - FGR Ser518Thr S518T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - FH Ala17Val A17V not reviewed Insufficiently evaluated not reviewed unknown Array 3 8634 0.000347463 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - FH Tyr2His Y2H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 10 - - FHAD1 Pro99Leu P99L not reviewed Insufficiently evaluated not reviewed unknown Array rs6679905 149 3234 0.046073 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.689 - - 7 Y 1 N - - FHAD1 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array rs12039283 66 3234 0.0204082 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - FHAD1 Asn533Ser N533S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FHAD1 Arg665Gln R665Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12126178 248 3234 0.0766852 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 1 - 2 - - FHDC1 Val232Met V232M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.208 - - 0 - 1 N - - FHDC1 Arg485His R485H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - FHDC1 Ser605Leu S605L not reviewed Insufficiently evaluated not reviewed unknown Array 94 10718 0.00877029 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - FHL3 Glu133Asp E133D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FHOD1 Arg905Pro R905P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - FHOD1 Ser433Phe S433F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - FIBP Gly216Ala G216A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.483 - - 1 - 1 N - - FIG4 Val440Ala V440A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - FIGF Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 1 - 10 - - FIGNL1 Asn271Ser N271S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FIGNL1 Tyr261Cys Y261C not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - FIGNL1 Gln256Leu Q256L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - FIGNL1 Gln189His Q189H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - FIGNL1 Lys150Glu K150E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FIGNL1 Met112Ile M112I not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - -1 - 1 N - - FIGNL1 Ala44Val A44V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 2 N - - FILIP1 Ser475Asn S475N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FILIP1 Gly25Ser G25S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FITM1 Val134Met V134M not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.552 - - 0 - 1 N - - FKBP10 Asp143Asn D143N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - FKBP14 Leu12Val L12V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKBP15 Ala1069Ser A1069S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748833 171 9898 0.0172762 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - FKBP15 Arg305His R305H not reviewed Insufficiently evaluated not reviewed unknown Array rs62636616 169 10156 0.0166404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - FKBP15 Phe154Cys F154C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - FKBP7 Met158Thr M158T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FKBP7 Met159Thr M159T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FKSG83 Val16Ile V16I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FKSG83 Leu18His L18H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FKSG83 Leu29Gln L29Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLCN Leu460Pro L460P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.266 Y Y 7 Y 3 N - - FLCN Val439Met V439M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.458 Y Y 0 - 3 N - - FLCN Gly303Arg G303R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG His3941Arg H3941R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG Arg3829Cys R3829C not reviewed Insufficiently evaluated not reviewed unknown Array rs7537147 272 10758 0.0252835 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG Gly3754Val G3754V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 8 Y 2 N - - FLG Gly3587Ser G3587S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10740 0.00307263 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.075 Y Y 2 - 2 N - - FLG His3582Gln H3582Q not reviewed Insufficiently evaluated not reviewed unknown Array 147 10720 0.0137127 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.904 Y Y -1 - 4 N - - FLG Gln3568Arg Q3568R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.197 Y Y 0 - 2 N - - FLG Arg3564His R3564H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.121 Y Y 1 - 2 N - - FLG Arg3490Cys R3490C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10754 0.00195276 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 8 Y 4 N - - FLG Arg3375Trp R3375W not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y 7 Y 4 N - - FLG Ser3330Gly S3330G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.579 Y Y 2 - 3 N - - FLG Asp2572Glu D2572E not reviewed Insufficiently evaluated not reviewed unknown Array 23 10754 0.00213874 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y -2 - 4 N - - FLG Arg2518Gly R2518G not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 6 Y 4 N - - FLG His2333Arg H2333R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y 1 - 4 N - - FLG Arg1980His R1980H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG Gly1966Ser G1966S not reviewed Insufficiently evaluated not reviewed unknown Array 458 10758 0.042573 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Trp1947Arg W1947R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FLG Leu1943His L1943H not reviewed Insufficiently evaluated not reviewed unknown Array 388 10758 0.0360662 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Arg1856His R1856H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG His1816Gln H1816Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12073613 272 10758 0.0252835 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FLG Asp1708Asn D1708N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FLG Glu1449Gln E1449Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Asn1397Asp N1397D not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FLG Ser1318Gly S1318G not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Arg1278Gly R1278G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Arg1231Met R1231M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - FLG Arg1150Leu R1150L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10750 0.00186047 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Ser1028Thr S1028T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Ser820Tyr S820Y not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Arg780His R780H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG Gly728Arg G728R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Asn687Ile N687I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FLG Arg683His R683H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.268 Y Y 1 - 3 N - - FLG Lys679Gln K679Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -2 - 2 N - - FLG His664Gln H664Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73007746 343 10758 0.0318832 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.676 Y Y -1 - 3 N - - FLG Gln650Arg Q650R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.075 Y Y 0 - 2 N - - FLG Arg615Ser R615S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.886 Y Y 3 - 4 N - - FLG Gln607Glu Q607E not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.556 Y Y -2 - 3 N - - FLG Ser597Arg S597R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 3 - 2 N - - FLG Arg484Trp R484W not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.142 Y Y 7 Y 2 N - - FLG Arg296Gly R296G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.123 Y Y 6 Y 2 N - - FLG Gly174Arg G174R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 6 Y 4 N - - FLG Ser155Thr S155T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.445 Y Y -2 - 4 - 4 - - FLG2 Gly1834Arg G1834R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - FLG2 Ser1126Thr S1126T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLG2 Ser1125Cys S1125C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - FLG2 Gln507His Q507H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ10357 Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ10357 Arg823Gln R823Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ11506 Asn228Asp N228D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ16686 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ20184 Lys185Gln K185Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLJ32682 Ala580Thr A580T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FLJ32810 Val561Ile V561I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ35848 Tyr726His Y726H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ40235 Lys147Glu K147E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLJ43860 Pro980Leu P980L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ43860 Gln495Stop Q495X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLJ43860 His410Tyr H410Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ44635 Glu63Gln E63Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLJ46321 Ile289Ser I289S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLJ46321 Arg911Leu R911L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ46321 Gly1389Arg G1389R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLNA Gln2333Leu Q2333L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLNA Gln2341Leu Q2341L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y 5 Y 4 N - - FLNA Arg634Gly R634G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.211 Y Y 6 Y 3 N - - FLNB Ala1286Gly A1286G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLNB Arg1504His R1504H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.181 Y Y 1 - 2 N - - FLNB Glu1950Val E1950V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y 5 Y 4 N - - FLNB Arg1969Gln R1969Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.869 Y Y 0 - 4 N - - FLNB Ser2481Pro S2481P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.27 Y Y 3 - 3 N - - FLRT1 Thr490Arg T490R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLRT3 Thr511Ala T511A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - FLRT3 Ala39Glu A39E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLT1 Asn516Asp N516D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - FLT4 Glu350Val E350V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10728 0.00521998 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.824 Y Y 5 Y 3 N - - FLVCR1 Pro14Ser P14S not reviewed Insufficiently evaluated not reviewed unknown Array 2 8402 0.000238038 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - FLVCR1 Lys512Glu K512E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.684 - - 0 - 1 N - - FLVCR2 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.452 - - 0 - 1 N - - FLVCR2 Ala482Val A482V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLYWCH1 Val65Ile V65I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - -4 - 0 N - - FMN1 Asp569Asn D569N not reviewed Insufficiently evaluated not reviewed unknown Array rs61736694 155 10096 0.0153526 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - FMN1 Thr114Ile T114I not reviewed Insufficiently evaluated not reviewed unknown Array 56 9986 0.00560785 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - FMN2 Glu557Gly E557G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FMN2 Glu1625Ala E1625A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - FMNL1 Asn144Asp N144D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - FMNL1 Arg790His R790H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FMO1 His97Gln H97Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.531 - - -1 - 2 - 10 - - FMO1 Glu126Asp E126D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - FMO2 Val59Leu V59L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - FMR1 Cys99Arg C99R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - FN1 Thr1975Ala T1975A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FN1 Thr2040Ala T2040A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FN1 Thr2065Ala T2065A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FN1 Thr2131Ala T2131A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FN1 Thr2156Ala T2156A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FN1 Asn1762Ser N1762S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Asn1852Ser N1852S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FN1 Asn1943Ser N1943S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Ala1470Thr A1470T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - FN1 Ala1561Thr A1561T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FN1 Ile182Leu I182L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - FN1 Ser41Ala S41A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 1 - 3 - - FN3KRP Val87Leu V87L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.685 - - 0 - 1 N - - FN3KRP Arg205His R205H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - FNBP1 Ala477Gly A477G not reviewed Insufficiently evaluated not reviewed unknown Array 197 9974 0.0197514 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNDC1 Ser1820Asn S1820N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741925 142 9892 0.014355 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - FNDC3A Pro864Gln P864Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FNDC3A Pro920Gln P920Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - FNDC3B Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FNDC7 Ile365Val I365V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FNDC7 Phe668Tyr F668Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FNIP1 Pro425Leu P425L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FNIP1 Pro453Leu P453L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FOLR1 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 7 Y 3 - 1 - - FOLR2 Ser117Cys S117C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - FOLR4 Ser229Phe S229F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FOSB Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOSB Ala313Thr A313T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 1 - 1 N - - FOXH1 Thr125Ser T125S not reviewed Insufficiently evaluated not reviewed unknown Array 278 10664 0.026069 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 3 - 2 - - FOXI2 Gly273Ala G273A not reviewed Insufficiently evaluated not reviewed unknown Array 82 10632 0.00771256 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXJ2 Gln325His Q325H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - FOXK2 Ser497Phe S497F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - FOXK2 Ala537Thr A537T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXK2 Ile572Leu I572L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - -2 - 1 N - - FOXK2 Pro627Arg P627R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - FOXN1 Ile278Val I278V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.573 - - -4 - 1 N - - FOXN1 Leu439Met L439M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 - - -3 - 0 N - - FOXO1 Thr531Ala T531A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 1 - 1 N - - FOXO3 Ser594Ala S594A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - -1 - 1 N - - FOXP1 Leu156Pro L156P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.753 - - 7 Y 1 N - - FOXP2 Leu466Pro L466P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - FOXP2 Leu558Pro L558P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - FOXP2 Leu583Pro L583P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - FOXP4 Gln353His Q353H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FOXP4 Gln354His Q354H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FOXP4 Gln355His Q355H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.511 - - -1 - 1 N - - FOXRED1 Thr315Ala T315A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - FOXS1 Met259Val M259V not reviewed Insufficiently evaluated not reviewed unknown Array 106 10756 0.00985496 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FOXS1 Asn145Thr N145T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FPR1 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRAS1 Ala986Thr A986T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10104 0.000791765 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FRAS1 Gly1022Glu G1022E not reviewed Insufficiently evaluated not reviewed unknown Array rs17459809 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - FRAS1 Pro2426Gln P2426Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - FRAS1 Val3279Met V3279M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FRAS1 Asn3768Ser N3768S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FREM1 Asp1198Ala D1198A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - FREM1 Gln1162Arg Q1162R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10178 0.00206327 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 1 N - - FREM1 Asp383Asn D383N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - FREM1 Ala339Gly A339G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9904 0.000302907 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 1 - 0 N - - FREM2 His891Arg H891R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 1 N - - FREM2 Asp1560Gly D1560G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 3 N - - FREM2 Met1983Ile M1983I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.913 Y - -1 - 3 N - - FREM2 Gly1986Glu G1986E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 6 Y 3 N - - FREM2 Glu2748Gly E2748G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.895 Y - 6 Y 3 N - - FREM2 Glu2959Gly E2959G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.971 Y - 6 Y 3 N - - FREM2 Arg3018Gly R3018G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 6 Y 3 N - - FRG1 Glu63Lys E63K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - FRG1 Tyr113His Y113H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - FRG1 Ser228Ile S228I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 5 Y 1 N - - FRMD1 Ala442Ser A442S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FRMD1 Ala510Ser A510S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FRMD1 Arg441His R441H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRMD1 Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array 86 10750 0.008 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRMD1 Val193Met V193M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD1 Val261Met V261M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751866 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - FRMD3 Ile173Val I173V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - FRMD4A Glu646Asp E646D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - FRMD4B Met663Val M663V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD4B Ser404Asn S404N not reviewed Insufficiently evaluated not reviewed unknown Array 103 9822 0.0104867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD5 Glu337Gly E337G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - FRMD6 Ile100Thr I100T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - FRMPD1 Arg45Ser R45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FRMPD1 Ser579Gly S579G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - FRMPD1 Pro715Leu P715L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - FRMPD1 Lys912Arg K912R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - FRMPD1 Lys1002Asn K1002N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - FRMPD1 Met1054Val M1054V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - FRMPD1 Arg1345Ser R1345S not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - FRMPD2 Ala253Val A253V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMPD2 Ala275Val A275V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - FRMPD2 Leu187Phe L187F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMPD2 Leu209Phe L209F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - FRRS1 Val372Phe V372F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRRS1 Arg278Gln R278Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FRS2 Arg413Trp R413W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FRS3 Ser452Ala S452A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - FRS3 Gly384Ser G384S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRS3 Cys208Tyr C208Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.804 - - 6 Y 1 N - - FSCB Ala601Ser A601S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FSCB Lys251Arg K251R not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.55 - - -3 - 1 N - - FSCN1 Thr289Ala T289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - FSCN2 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - FSCN3 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FSIP1 Gly544Asp G544D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 4 Y 1 N - - FSIP1 Ser494Pro S494P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - FSTL1 Glu120Gly E120G not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 6 Y 2 N - - FSTL4 Met647Lys M647K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - FSTL4 Ser74Gly S74G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 0 N - - FSTL5 Arg785Gln R785Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - FSTL5 Arg794Gln R794Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSTL5 Arg795Gln R795Q not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FTHL17 Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs61739942 97 8759 0.0110743 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.9 - - 1 - 3 - 1 - - FTL Leu111Phe L111F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.041 Y Y 0 - 3 - 6 - - FTMT His188Leu H188L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - FTO Asp89Glu D89E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - -2 - 2 N - - FTSJ2 Phe107Leu F107L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FTSJ3 Lys763Glu K763E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 0 - 1 N - - FUBP1 Val78Ala V78A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 2 - 1 N - - FUBP1 Asp74Gly D74G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 4 Y 1 N - - FUCA2 Leu341Pro L341P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FUS Tyr177Cys Y177C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FUT11 Thr187Ser T187S not reviewed Insufficiently evaluated not reviewed unknown Array 117 9982 0.0117211 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -2 - 0 N - - FUT2 Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - FUT5 Ser131Gly S131G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FUT6 Gly176Val G176V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.605 - - 8 Y 1 N - - FUT6 Arg126Trp R126W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 1 N - - FUT6 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FUZ Thr400Ile T400I not reviewed Insufficiently evaluated not reviewed unknown Array rs12610577 264 10758 0.0245399 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - FXC1 Arg12Gly R12G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 3 - - FXC1 Arg12Stop R12X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - FXR1 Lys493Glu K493E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FXR1 Lys578Glu K578E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - FXR1 Glu528Ala E528A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FXR1 Glu613Ala E613A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FYB Gly50Glu G50E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 10 - - FYCO1 Thr1465Ala T1465A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - FYCO1 Thr1323Met T1323M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - FYCO1 Arg871Gln R871Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FYCO1 Arg250Leu R250L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 6 - - FYN Arg29Cys R29C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.513 - - 8 Y 2 - 10 - - FZD4 Ala331Thr A331T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 1 - 4 N - - FZD4 Gly16Asp G16D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10426 0.000287742 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 1 - - FZD6 Lys34Thr K34T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FZD6 Val494Ala V494A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FZD7 Ile289Val I289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - -4 - 2 N - - FZD9 Val372Ala V372A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 2 - 0 N - - G2E3 Arg382Gln R382Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - G2E3 Gly465Asp G465D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - G6PC2 Leu208Val L208V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - GAA His56Leu H56L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 9 - - GAA Leu226Val L226V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - GAA His308Tyr H308Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GABRA1 Lys3Arg K3R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - GABRA1 Asp9Glu D9E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - GABRG2 Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - GABRP Lys126Arg K126R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - GABRP Arg200His R200H not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 1 - 1 - 1 - - GABRR2 Leu20Pro L20P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GAD1 Lys68Arg K68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - GAD1 Leu205Pro L205P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - GAD1 Lys419Glu K419E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - GAD2 Ile561Thr I561T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - GADL1 Val490Leu V490L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 1 N - - GAGE1 Pro139Arg P139R not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GAGE10 Arg49Ser R49S not reviewed Insufficiently evaluated not reviewed unknown Array 17 3558 0.00477797 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GAK Asn970Ser N970S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - GAK Glu816Lys E816K not reviewed Insufficiently evaluated not reviewed unknown Array rs28640071 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAL3ST1 Arg329His R329H not reviewed Insufficiently evaluated not reviewed unknown Array 178 10652 0.0167105 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 1 N - - GAL3ST1 Val34Met V34M not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - GAL3ST4 Gly436Asp G436D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - GAL3ST4 Arg353Trp R353W not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - GALC Ala21Pro A21P not reviewed Insufficiently evaluated not reviewed unknown Array 677 7842 0.08633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.163 Y Y 2 - 3 - 3 - - GALE Val238Ile V238I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.065 Y - -4 - 1 N - - GALK2 Lys322Asn K322N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALK2 Lys333Asn K333N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 1 - 2 N - - GALM His333Arg H333R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - GALNS Ser120Leu S120L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.419 Y - 6 Y 3 - 1 - - GALNT1 Ser143Pro S143P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - GALNT10 Arg171Pro R171P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - GALNT10 Leu20Pro L20P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GALNT11 Lys438Arg K438R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GALNT12 Thr500Ala T500A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - GALNT13 Ser118Gly S118G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GALNT13 Arg426His R426H not reviewed Insufficiently evaluated not reviewed unknown Array rs113979307 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNT3 Arg261Gln R261Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GALNT4 His113Arg H113R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - GALNT5 Gly146Arg G146R not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GALNT6 Lys50Arg K50R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - -3 - 0 N - - GALNT6 Leu22Phe L22F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GALNT8 Glu215Lys E215K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - GALNT8 Val303Ala V303A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 2 - 1 N - - GALNTL4 Asp58Asn D58N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GALNTL6 Glu308Gly E308G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 6 Y 1 N - - GALR1 Pro341Thr P341T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GALR2 Gln263His Q263H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GAMT Lys109Stop K109X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - GANC Ile166Val I166V not reviewed Insufficiently evaluated not reviewed unknown Array rs16973015 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 6 - - GANC His688Arg H688R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAPDHS Arg25Thr R25T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - GAPDHS Pro42Ser P42S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - GART Val421Phe V421F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 6 - - GAS2L1 Ala466Thr A466T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAS2L2 Gly649Asp G649D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - GAS2L2 Glu28Gly E28G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.217 - - 6 Y 1 N - - GAS2L3 Pro395Leu P395L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 7 Y 0 N - - GAS2L3 His476Pro H476P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 5 Y 0 N - - GAS6 Cys236Arg C236R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - GAS6 Arg115Pro R115P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GAS6 Arg141Pro R141P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GAS6 Arg414Pro R414P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GAS6 Cys145Trp C145W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - GAS6 Cys171Trp C171W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 2 - - GAS6 Cys444Trp C444W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - GATAD2B His37Arg H37R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - GATM Leu401Gln L401Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 4 N - - GATM Arg290Gly R290G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.863 Y Y 6 Y 4 N - - GATM Met281Val M281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.056 Y Y 0 - 2 N - - GATM Gln225His Q225H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GATSL1 Asn17Lys N17K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GBA2 Arg401Gln R401Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - GBA3 Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array 21 9586 0.00219069 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GBAS Leu236Phe L236F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.825 - - 0 - 1 N - - GBAS Glu260Val E260V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.817 - - 5 Y 1 N - - GBE1 Thr507Ser T507S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - GBF1 Pro1359Ser P1359S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GBF1 Val1494Leu V1494L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - GBP2 Ser281Thr S281T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - GBP2 Pro89Leu P89L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GBP3 Glu561Gln E561Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GBP3 Gln555Glu Q555E not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GBP3 Lys485Glu K485E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GBP3 Arg356Ser R356S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GBP3 Ala313Thr A313T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GBP4 Glu546Lys E546K not reviewed Insufficiently evaluated not reviewed unknown Array 1013 10546 0.0960554 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - GBP4 Met545Leu M545L not reviewed Insufficiently evaluated not reviewed unknown Array 1106 10586 0.104478 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 1 - 3 - - GBP4 Asn319Lys N319K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.816 - - 1 - 1 N - - GBP5 Asp334Gly D334G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 4 Y 1 N - - GBP5 Ile235Val I235V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730934 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - GBP5 Tyr53Phe Y53F not reviewed Insufficiently evaluated not reviewed unknown Array rs61732483 290 10758 0.0269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.203 - - -4 - 1 N - - GBP6 Lys51Thr K51T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 1 - - GBP6 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - GBP6 Val403Ile V403I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - GBP6 Val428Phe V428F not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.816 - - 3 - 1 N - - GC Phe309Cys F309C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - GC Gln205Arg Q205R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - GC Glu162Lys E162K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 8 - - GCAT Arg361Pro R361P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 5 Y 0 N - - GCC1 Asp461Gly D461G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.783 - - 4 Y 1 N - - GCC2 Asp430Gly D430G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - GCC2 Asp531Gly D531G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GCC2 Tyr1019Cys Y1019C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10740 0.00102421 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GCC2 Tyr918Cys Y918C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GCC2 Thr1019Ser T1019S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GCC2 Thr1120Ser T1120S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GCK Glu16Gly E16G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - GCK Glu17Gly E17G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.452 Y Y 6 Y 4 - 5 - - GCK Glu18Gly E18G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - GCKR His303Tyr H303Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - GCKR Thr488Ile T488I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - GCLM Ser102Tyr S102Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GCM1 Phe236Val F236V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GCM2 Gln58Arg Q58R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.702 Y - 0 - 2 N - - GCN1L1 Arg1799His R1799H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10184 0.000785545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCNT2 Ser70Pro S70P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GCNT2 Glu90Lys E90K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCNT2 Thr132Ala T132A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCOM1 Pro22Ser P22S not reviewed Insufficiently evaluated not reviewed unknown Array 15 4004 0.00374625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GCOM1 Glu376Gly E376G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GCOM1 Glu404Gly E404G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GCOM1 Asp544Asn D544N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10694 0.00149617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GCSH Asn73Ser N73S not reviewed Insufficiently evaluated not reviewed unknown Array rs8177877 408 10756 0.0379323 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - GDA Thr125Ala T125A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 1 - 10 - - GDAP1 Met279Leu M279L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - GDAP1 Met347Leu M347L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - GDAP1L1 Arg307Gly R307G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - GDAP2 Thr489Ala T489A not reviewed Insufficiently evaluated not reviewed unknown Array rs34924570 143 10758 0.0132924 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GDAP2 Glu385Gly E385G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 6 Y 2 N - - GDE1 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - GDF3 Arg195Trp R195W not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 1 N - - GDF7 Ala246Val A246V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.698 - - 2 - 1 N - - GDNF Asn115Lys N115K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.977 - Y 1 - 4 - 1 - - GDNF Asn37Lys N37K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - GDNF Asn89Lys N89K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - GDPD2 Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - GDPD3 Ala293Val A293V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - GDPD4 Leu452Pro L452P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 7 Y 1 N - - GDPD4 Gln162Lys Q162K not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - -2 - 1 N - - GDPD4 Gln151Lys Q151K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GEFT Gln506Leu Q506L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - GEFT Gln545Leu Q545L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - GEM Arg43Cys R43C not reviewed Insufficiently evaluated not reviewed unknown Array rs2170363 8 128 0.0625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - GEMIN4 Val913Ile V913I not reviewed Insufficiently evaluated not reviewed unknown Array rs34610323 163 9836 0.0165718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - GEMIN4 Pro749Leu P749L not reviewed Insufficiently evaluated not reviewed unknown Array rs8078660 365 9934 0.0367425 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GEMIN4 Ser512Phe S512F not reviewed Insufficiently evaluated not reviewed unknown Array 10 9832 0.00101709 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GEMIN4 Ile502Val I502V not reviewed Insufficiently evaluated not reviewed unknown Array rs34616851 158 9826 0.0160798 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - GEMIN5 Phe1240Leu F1240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - GEMIN5 Thr712Ile T712I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GEMIN5 Ile550Val I550V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GEMIN7 Pro131Thr P131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 4 Y 2 N - - GEN1 Thr587Ile T587I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GEN1 Thr817Ala T817A not reviewed Insufficiently evaluated not reviewed unknown Array 385 10758 0.0357873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GFM1 Gln324Leu Q324L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 5 Y 1 N - - GFM1 Ser452Pro S452P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 3 - 3 N - - GFM1 Phe484Cys F484C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.777 Y - 4 Y 2 N - - GFM2 Tyr363Cys Y363C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GFOD2 Asn242Ser N242S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 0 - 2 N - - GFPT1 Thr22Ala T22A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GFRA3 Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - GFRA4 Arg152Leu R152L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GGA1 Pro328Leu P328L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - GGCX Val545Ile V545I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GGCX Val602Ile V602I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GGH Lys235Arg K235R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GGH Tyr51His Y51H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 1 - 2 - - GGN Pro439Gln P439Q not reviewed Insufficiently evaluated not reviewed unknown Array 251 10566 0.0237554 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GGNBP2 Asp131Gly D131G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - GGNBP2 Lys537Asn K537N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - GGT5 Ile443Val I443V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GGT5 Ile475Val I475V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GGT5 Ile476Val I476V not reviewed Insufficiently evaluated not reviewed unknown Array rs7288201 239 10758 0.022216 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GGT5 Ser309Asn S309N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGT5 Ser341Asn S341N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGT6 Pro259Arg P259R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GGT6 Pro291Arg P291R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - GH1 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.052 Y - 2 - 2 - 10 - - GHITM Leu101Phe L101F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - 0 - 1 N - - GHITM Met336Ile M336I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - GIF Phe359Leu F359L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 - - 0 - 2 N - - GIGYF1 Ala977Val A977V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GIMAP1 Val300Asp V300D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - GIMAP6 Gly171Arg G171R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 6 Y 1 - 2 - - GIMAP8 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GIPC1 Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GIPC1 Arg215Cys R215C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 8 Y 0 N - - GIT1 Ile646Thr I646T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GIT1 Ile655Thr I655T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GIT2 Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - GJA4 Gln49His Q49H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - GJA9 Leu422Phe L422F not reviewed Insufficiently evaluated not reviewed unknown Array rs61741382 246 10758 0.0228667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.679 - - 0 - 1 N - - GJB3 Val200Ile V200I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734064 336 10758 0.0312326 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 3 - 8 - - GJB5 Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - GJB7 Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - GJC3 Ser183Pro S183P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - GJD4 Ser235Phe S235F not reviewed Insufficiently evaluated not reviewed unknown Array 9 9934 0.000905979 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - GJD4 Ser240Thr S240T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - -2 - 0 N - - GK2 Asn431Ser N431S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GK5 Pro398Ser P398S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.122 - - 3 - 0 N - - GLB1 Ser401Cys S401C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GLB1 Ser502Cys S502C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - GLB1 Ser532Cys S532C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GLB1 Leu345Val L345V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GLB1 Leu446Val L446V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GLB1 Leu476Val L476V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GLB1L Ile514Thr I514T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - GLB1L2 Val267Ile V267I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLB1L2 Gly534Ser G534S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GLDC Val1007Ile V1007I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - GLG1 Tyr1110Stop Y1110X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - GLG1 Tyr1121Stop Y1121X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - GLG1 Met455Val M455V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLG1 Met466Val M466V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLG1 Gly41Val G41V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLI1 Glu192Asp E192D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - -2 - 3 - 6 - - GLI1 Glu64Asp E64D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.349 - - -2 - 2 - 10 - - GLI1 Ile128Val I128V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLI1 Ile256Val I256V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.682 - - -4 - 1 N - - GLI1 Gly691Glu G691E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLI1 Gly819Glu G819E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - GLI2 Leu717Pro L717P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 1 - - GLI3 Leu1216Phe L1216F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.197 Y Y 0 - 2 N - - GLI3 Thr308Ala T308A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.563 Y Y 1 - 4 - 3 - - GLI3 Leu213Pro L213P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 7 Y 5 - 1 - - GLI4 Glu66Gly E66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.236 - - 6 Y 1 N - - GLIS1 Gly176Asp G176D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10614 0.00282646 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GLIS2 Arg121His R121H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - GLIS3 Gly158Ala G158A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GLIS3 Gly313Ala G313A not reviewed Insufficiently evaluated not reviewed unknown Array rs35154632 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GLMN Val557Ile V557I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.915 - - -4 - 2 N - - GLMN Tyr291His Y291H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - -1 - 2 N - - GLMN Ala250Ser A250S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - GLMN Leu129Ile L129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.826 - - -2 - 1 N - - GLOD4 Ala197Val A197V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GLOD5 Asn147His N147H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLP2R Ala515Thr A515T not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLRA2 Thr88Ala T88A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.413 - - 1 - 1 N - - GLRA4 Arg54Stop R54X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GLRX2 Glu162Gly E162G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - GLRX2 Glu163Gly E163G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLRX3 Glu218Gly E218G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 6 Y 2 N - - GLS Leu448Pro L448P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 7 Y 2 N - - GLS2 Val488Ala V488A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - GLS2 Val362Ala V362A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - GLT1D1 Arg258Lys R258K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GLT25D1 Asp224Gly D224G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - GLT25D1 Ser616Ile S616I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.354 - - 5 Y 1 N - - GLT25D2 Ser160Ala S160A not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - GLT6D1 Asn256Ser N256S not reviewed Insufficiently evaluated not reviewed unknown Array 32 9598 0.00333403 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLT6D1 Gln222Leu Q222L not reviewed Insufficiently evaluated not reviewed unknown Array 30 9812 0.00305748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GLT6D1 His150Arg H150R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLTSCR2 Ser6Arg S6R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLUD2 Asp414Gly D414G not reviewed Insufficiently evaluated not reviewed unknown Array 80 8761 0.00913138 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - GML Arg46Thr R46T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 1 - 3 - - GMNN Ser85Pro S85P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - GMPPA Ala72Thr A72T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - GMPPA Ser258Thr S258T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - GNA12 Pro321Ser P321S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - GNAI3 Thr295Ala T295A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GNAS Arg147Lys R147K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - GNAS Arg547Ser R547S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 2 - - GNAS Asp71Glu D71E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 3 - 1 - - GNAS Ser72Cys S72C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GNAS Ser87Cys S87C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - GNAZ Glu309Gln E309Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - GNB1 Cys294Tyr C294Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - GNB1L Val49Ala V49A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - GNB2L1 Ser146Asn S146N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNB3 Asn237Ser N237S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GNB4 Ser147Pro S147P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - GNB5 Lys147Asn K147N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GNB5 Lys189Asn K189N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.876 - - 1 - 3 - 1 - - GNB5 Ser17Asn S17N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNB5 Ser59Asn S59N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNE Leu596Ser L596S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - GNE Leu627Ser L627S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - GNL1 Val510Glu V510E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - GNL2 Asn83His N83H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - GNL3 Glu405Gln E405Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GNL3 Glu417Gln E417Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GNL3 Arg464Trp R464W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GNL3 Arg476Trp R476W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GNL3L Arg55Gly R55G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.771 - - 6 Y 1 N - - GNL3L Pro402Leu P402L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GNMT Val269Ile V269I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - GNPAT Ser9Phe S9F not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - GNPAT Val495Ile V495I not reviewed Insufficiently evaluated not reviewed unknown Array rs11122266 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.154 Y - -4 - 1 N - - GNPDA1 Ile272Thr I272T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GNPNAT1 Glu76Gly E76G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - - 6 Y 0 N - - GNPTAB Thr382Ala T382A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 1 - 4 N - - GNPTG Ser155Asn S155N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.84 - - 0 - 1 N - - GNPTG Thr211Ser T211S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 - - -2 - 0 N - - GNRH1 Arg73Gln R73Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.528 - - 0 - 1 N - - GNS Lys121Asn K121N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GNS Lys121Stop K121X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - GNS Asn112Asp N112D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -1 - 3 N - - GOLGA1 Asn220Ser N220S not reviewed Insufficiently evaluated not reviewed unknown Array rs35237091 394 10758 0.0366239 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA2 Pro973Ala P973A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 2 - 2 N - - GOLGA2 Val623Met V623M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA3 Gly1478Ser G1478S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10696 0.000841436 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GOLGA4 Arg556Trp R556W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - GOLGA4 Gln559His Q559H not reviewed Insufficiently evaluated not reviewed unknown Array 461 10758 0.0428518 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.47 - - -1 - 1 N - - GOLGA4 Lys1261Thr K1261T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10746 0.00279174 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - GOLGA4 Ile1794Thr I1794T not reviewed Insufficiently evaluated not reviewed unknown Array 463 10754 0.0430537 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.427 - - 3 - 1 N - - GOLGA5 Thr61Lys T61K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GOLGA5 Asp272Gly D272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOLGA5 Met486Val M486V not reviewed Insufficiently evaluated not reviewed unknown Array rs34139657 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - GOLGB1 Met2838Thr M2838T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GOLGB1 Glu2295Lys E2295K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 1 N - - GOLGB1 Ala2218Gly A2218G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - GOLGB1 Arg1987Gln R1987Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.644 - - 0 - 1 N - - GOLGB1 Glu1174Gly E1174G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - GOLGB1 Glu1068Gly E1068G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - GOLGB1 Asn655Ile N655I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 7 Y 1 N - - GOLGB1 Ile111Val I111V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - GOLIM4 Gln658Stop Q658X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GOLIM4 Glu448Gln E448Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62637708 600 10758 0.0557724 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GOLM1 Glu316Ala E316A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - GOLSYN His174Leu H174L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLSYN His290Leu H290L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLSYN His292Leu H292L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLSYN His293Leu H293L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GON4L Ile900Val I900V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - GON4L Cys897Arg C897R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - GOPC Asp253Gly D253G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOPC Asp261Gly D261G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOPC Ser151Pro S151P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GOPC Glu54Gly E54G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - GORASP1 Ala127Gly A127G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.218 - - 1 - 1 N - - GORASP2 Asn62His N62H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - GORASP2 Met347Thr M347T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 2 - 1 N - - GORASP2 Gly430Ser G430S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.734 - - 2 - 1 N - - GOSR2 Glu14Lys E14K not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.328 - - 0 - 1 N - - GOT1 Glu277Gly E277G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - GOT1L1 Arg127His R127H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10078 0.00585434 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOT2 Gln357Glu Q357E not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - GOT2 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - GP1BA Arg36Gly R36G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10646 0.00488446 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - GP2 Glu71Gly E71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 7 - - GP6 Trp429Stop W429X not reviewed Insufficiently evaluated not reviewed unknown Array 138 10168 0.013572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPA33 Pro285Ser P285S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GPA33 Asn179Asp N179D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPAM Val112Ala V112A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 0 N - - GPATCH1 Asn82Ser N82S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.397 - - 0 - 1 N - - GPATCH2 Ala528Thr A528T not reviewed Insufficiently evaluated not reviewed unknown Array rs34576349 160 10758 0.0148727 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPATCH3 Ala342Gly A342G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - GPATCH4 Phe357Leu F357L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPATCH4 Phe362Leu F362L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPATCH4 Glu300Asp E300D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPATCH4 Glu305Asp E305D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPATCH4 Thr283Ile T283I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPATCH4 Thr288Ile T288I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPATCH8 Arg853His R853H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPBP1 Ile115Met I115M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GPBP1 Ile122Met I122M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPBP1 Cys439Arg C439R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - GPBP1 Cys446Arg C446R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPBP1 Cys459Arg C459R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPBP1L1 Lys416Asn K416N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - GPC2 Arg256His R256H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GPC3 Asn279Asp N279D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y -1 - 2 N - - GPC5 His331Tyr H331Y not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.91 - - -1 - 2 N - - GPD1 Asn127Ser N127S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPD2 Trp174Arg W174R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - GPLD1 Val676Met V676M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - GPLD1 Ser497Thr S497T not reviewed Insufficiently evaluated not reviewed unknown Array rs61739665 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - -2 - 1 N - - GPLD1 Tyr378Stop Y378X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPNMB Pro324Leu P324L not reviewed Insufficiently evaluated not reviewed unknown Array rs35363287 245 10758 0.0227737 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - GPNMB Gly448Trp G448W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPNMB Gly460Trp G460W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - GPNMB Val524Ala V524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPNMB Val536Ala V536A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - GPR1 Leu198Pro L198P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.766 - - 7 Y 1 N - - GPR101 Ser303Cys S303C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - GPR107 Asp81Glu D81E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - -2 - 1 N - - GPR107 Ala189Pro A189P not reviewed Insufficiently evaluated not reviewed unknown Array rs640343 252 10758 0.0234244 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - GPR108 Leu199Ile L199I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - GPR110 Asp546Asn D546N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR110 Arg463His R463H not reviewed Insufficiently evaluated not reviewed unknown Array rs45598235 602 10758 0.0559584 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR111 Pro54Ser P54S not reviewed Insufficiently evaluated not reviewed unknown Array 12 9996 0.00120048 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR111 Cys341Stop C341X not reviewed Insufficiently evaluated not reviewed unknown Array 3 9878 0.000303705 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPR111 Ile566Thr I566T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10452 0.00153081 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR111 Ile586Val I586V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10620 0.00112994 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - GPR112 Met1033Thr M1033T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR112 Thr1537Ile T1537I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR112 Ile2092Met I2092M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR112 Glu2231Asp E2231D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPR113 Asn851Asp N851D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR113 Asn981Asp N981D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR113 Cys396Arg C396R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 8 Y 2 N - - GPR113 Cys526Arg C526R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR113 Cys595Arg C595R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 8 Y 1 N - - GPR113 Arg376Gln R376Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR113 Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR113 Arg575Gln R575Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GPR114 Lys95Asn K95N not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - GPR115 His462Tyr H462Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR115 Arg513Gln R513Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 0 - 2 N - - GPR116 Phe1281Ser F1281S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR116 Tyr513His Y513H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR123 Gly408Arg G408R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR124 Asn141Tyr N141Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - GPR124 Gly961Asp G961D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 4 Y 1 N - - GPR124 Gly1016Arg G1016R not reviewed Insufficiently evaluated not reviewed unknown Array 174 10748 0.0161891 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - GPR125 Ser1209Gly S1209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - GPR125 Thr1002Ala T1002A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 1 - 0 N - - GPR125 Met874Val M874V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - GPR125 Ser572Leu S572L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - GPR126 Gly265Ala G265A not reviewed Insufficiently evaluated not reviewed unknown Array 54 9462 0.00570704 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR128 Ile32Thr I32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR135 Val481Ala V481A not reviewed Insufficiently evaluated not reviewed unknown Array rs1752427 248 10754 0.0230612 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - GPR135 Ser146Tyr S146Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - GPR135 Ser146Thr S146T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - GPR137C Arg114Trp R114W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10368 0.000192901 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR142 Gly135Arg G135R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - GPR148 Phe159Ser F159S not reviewed Insufficiently evaluated not reviewed unknown Array 212 10758 0.0197063 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - GPR148 Arg258Gln R258Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - GPR15 Asp179Val D179V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR151 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array rs17104742 702 10758 0.0652538 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - GPR153 Gly347Asp G347D not reviewed Insufficiently evaluated not reviewed unknown Array 170 10736 0.0158346 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - GPR153 Glu322Lys E322K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 1 N - - GPR153 Arg73His R73H not reviewed Insufficiently evaluated not reviewed unknown Array rs61741782 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - GPR155 Arg657Gln R657Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - GPR155 Ile206Thr I206T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 3 - 1 N - - GPR155 Asp33Glu D33E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPR156 Pro668Ser P668S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - GPR156 Pro406Arg P406R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR158 Pro60Thr P60T not reviewed Insufficiently evaluated not reviewed unknown Array 413 10666 0.0387212 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.81 - - 4 Y 1 N - - GPR158 Lys747Glu K747E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.819 - - 0 - 1 N - - GPR171 Ile283Val I283V not reviewed Insufficiently evaluated not reviewed unknown Array rs3732756 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.093 - - -4 - 1 - 5 - - GPR171 Leu114Ile L114I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - -2 - 2 N - - GPR172B Ala410Glu A410E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.469 - - 3 - 1 N - - GPR177 Ile535Thr I535T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR177 Met321Ile M321I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR177 Met323Ile M323I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR179 Asp1327Asn D1327N not reviewed Insufficiently evaluated not reviewed unknown Array 81 10022 0.00808222 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - GPR179 Arg1307Gln R1307Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 9950 0.00301508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.709 - - 0 - 1 N - - GPR179 Arg1134Gln R1134Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10098 0.00128738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - GPR179 Ala975Asp A975D not reviewed Insufficiently evaluated not reviewed unknown Array 92 10044 0.0091597 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - GPR179 Gln688Arg Q688R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10168 0.000196695 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - GPR179 Trp214Arg W214R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GPR179 Ala25Asp A25D not reviewed Insufficiently evaluated not reviewed unknown Array 112 9882 0.0113337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 5 Y 2 N - - GPR18 Gln125Stop Q125X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPR180 Met271Ile M271I not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - GPR32 Arg256Gly R256G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - GPR32 Leu315Pro L315P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - GPR35 Ser147Pro S147P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 3 - 1 N - - GPR37 Asn491Ser N491S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - GPR45 Lys262Arg K262R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - GPR6 Ala214Ser A214S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10696 0.00364622 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GPR61 Leu179Val L179V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - GPR63 Tyr333Cys Y333C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - GPR64 Asn529His N529H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR64 Asn537His N537H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR64 Asn548His N548H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR64 Asn551His N551H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - GPR64 Thr121Met T121M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR64 Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR64 Thr140Met T140M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR64 Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - GPR65 His243Arg H243R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GPR77 Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPR77 His329Arg H329R not reviewed Insufficiently evaluated not reviewed unknown Array 73 10704 0.00681988 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - GPR78 Arg318His R318H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.452 - - 1 - 1 N - - GPR82 Ser127Pro S127P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR84 Leu212Pro L212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 7 Y 0 N - - GPR87 Leu284Val L284V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR97 Arg409Cys R409C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 8 Y 2 N - - GPR98 Ala431Val A431V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GPR98 Gly1219Val G1219V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 8 Y 4 N - - GPR98 Tyr1622His Y1622H not reviewed Insufficiently evaluated not reviewed unknown Array 40 9712 0.00411862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y -1 - 4 N - - GPR98 Arg2959Gln R2959Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73175207 254 9510 0.0267087 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.077 Y Y 0 - 2 N - - GPR98 Val3734Ala V3734A not reviewed Insufficiently evaluated not reviewed unknown Array 14 9666 0.00144838 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GPR98 Ile5392Thr I5392T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9756 0.000102501 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - GPRASP1 Ala44Pro A44P not reviewed Insufficiently evaluated not reviewed unknown Array 114 8761 0.0130122 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - GPRASP2 Ser289Gly S289G not reviewed Insufficiently evaluated not reviewed unknown Array 126 8761 0.0143819 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPRC5A Thr33Met T33M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.521 - - 2 - 1 N - - GPRC5B Asn268Lys N268K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - GPRC5C Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 194 10752 0.0180432 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPRC5C Arg197Gln R197Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPRC6A Ser885Pro S885P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GPRC6A Val476Ala V476A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - 2 - 1 N - - GPRC6A His344Arg H344R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.528 - - 1 - 1 N - - GPRC6A Lys94Glu K94E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - GPRIN2 Pro169Ser P169S not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - GPRIN2 Glu458Lys E458K not reviewed Insufficiently evaluated not reviewed unknown Array 12 9206 0.0013035 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 2 N - - GPRIN3 Ser472Pro S472P not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.966 - - 3 - 2 N - - GPS2 Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - GPT2 Leu198Pro L198P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - GPT2 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPX5 Phe66Leu F66L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - GPX6 Gln168Arg Q168R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPX7 Phe79Leu F79L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 3 - 8 - - GPX8 Glu51Gly E51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - 6 Y 2 N - - GRAMD1B Val297Ile V297I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRB14 Asp318Gly D318G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 4 Y 1 N - - GRB7 Gly51Ser G51S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GREB1 His174Arg H174R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 3 - 1 - - GREB1 Phe238Leu F238L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - GRHPR Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - GRIA1 Asp116Gly D116G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - GRIA3 Val827Ile V827I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 1 N - - GRIA4 Thr504Ala T504A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GRIA4 Ile897Thr I897T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIK1 Asn409Lys N409K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIK1 Asn424Lys N424K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GRIK5 Val560Ile V560I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - GRIN2A Ser954Gly S954G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - GRIN2B Val1167Ile V1167I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - -4 - 2 - 1 - - GRIN2C Pro205Leu P205L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.504 - - 7 Y 1 N - - GRIN3B Pro154Ser P154S not reviewed Insufficiently evaluated not reviewed unknown Array 230 10436 0.0220391 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 3 - 1 - 2 - - GRINL1A Asp205Asn D205N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRINL1A Asp362Asn D362N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRK4 Ala116Thr A116T not reviewed Insufficiently evaluated not reviewed unknown Array rs34857805 319 10758 0.0296524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - GRK4 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - GRK5 Val241Ala V241A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - GRK5 Arg304Pro R304P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 3 - 5 - - GRK6 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.796 - - 7 Y 1 N - - GRM1 Arg358Lys R358K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - GRM1 Pro1067Leu P1067L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - GRM3 Arg571Gly R571G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 1 N - - GRM3 Val846Ala V846A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 2 - 0 N - - GRM5 Ala423Ser A423S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRM6 Val324Ile V324I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.17 Y - -4 - 1 N - - GRM8 Ser896Pro S896P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRM8 Ala513Val A513V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRN Gly515Ala G515A not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.741 Y Y 1 - 4 - 1 - - GRPEL1 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - GRPR Ser363Asn S363N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 0 - 1 N - - GSDMB Leu372Pro L372P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GSDMB Leu381Pro L381P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GSDMC Gly374Asp G374D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 4 Y 2 N - - GSDMC Ala109Val A109V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - GSDMC Arg40Stop R40X not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GSDMD Ala351Thr A351T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - GSG1 Gly304Arg G304R not reviewed Insufficiently evaluated not reviewed unknown Array 26 6102 0.0042609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSG1 Gly340Arg G340R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSG2 Arg486Gly R486G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSN Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GSN Val263Ile V263I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GSN Val303Ile V303I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - -4 - 1 N - - GSN Thr565Met T565M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - GSN Thr576Met T576M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - GSN Thr616Met T616M not reviewed Insufficiently evaluated not reviewed unknown Array rs76463933 692 10756 0.0643362 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.111 Y - 2 - 1 N - - GSR Ala175Thr A175T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GSS Val234Ala V234A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.58 - - 2 - 1 N - - GSS Pro184Ala P184A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.092 - - 2 - 0 N - - GSS Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 7 Y 3 - 9 - - GSTA1 Ile99Thr I99T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSTK1 Ile116Val I116V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSTK1 Ile147Val I147V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSTK1 Ile159Val I159V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSTK1 Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSTM5 Pro2Ser P2S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 1 - - GSTO2 His71Tyr H71Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -1 - 0 N - - GSTT1 Arg197His R197H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GSTZ1 Glu32Stop E32X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 8 - - GSTZ1 Glu32Gln E32Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 8 - - GTDC1 Ile163Thr I163T not reviewed Insufficiently evaluated not reviewed unknown Array rs35741727 215 10758 0.0199851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 0 N - - GTF2A1L Phe431Cys F431C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GTF2F2 Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTF3C1 Arg1630Pro R1630P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - GTF3C1 Ser1122Cys S1122C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - GTF3C1 Asp143Gly D143G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GTF3C3 Asn70Ile N70I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 7 Y 1 - 1 - - GTF3C5 Leu284Pro L284P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GTPBP10 Pro125Leu P125L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GTPBP10 Pro204Leu P204L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10744 0.00018615 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GTPBP4 Gly314Arg G314R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - GTPBP4 Lys492Gln K492Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GTPBP5 Gly47Arg G47R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - GTSE1 Ile259Thr I259T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GUCA1C Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array rs11917716 302 10758 0.0280721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - GUCA2A Asn86Ser N86S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - GUCA2A Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - GUCY1A3 Gly157Arg G157R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - GUCY1A3 Leu163Arg L163R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - GUCY1A3 Leu398Arg L398R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - GUCY1A3 Val398Met V398M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GUCY1A3 Val633Met V633M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - GUCY2C Asn699Ser N699S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GUCY2F Arg681His R681H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GUCY2F Leu652Pro L652P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - GUCY2F Gln105His Q105H not reviewed Insufficiently evaluated not reviewed unknown Array 121 8761 0.0138112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - -1 - 1 N - - GUCY2F Ser40Cys S40C not reviewed Insufficiently evaluated not reviewed unknown Array rs34228145 68 8761 0.00776167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 3 - - GUSB Met593Val M593V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - GYG1 Leu9Val L9V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 2 - 2 - - GYG2 Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GYG2 Pro319Leu P319L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - GYPB Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GYPC Val42Ile V42I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GYPC Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GYS1 Arg644His R644H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GYS1 Arg708His R708H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.963 Y - 1 - 3 N - - GZF1 Asp667Asn D667N not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 1 - 4 - - H6PD Arg469Gln R469Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.119 Y Y 0 - 2 N - - HABP2 Asn50Tyr N50Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.125 Y - 5 Y 1 N - - HABP2 Gly460Ala G460A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.191 Y - 1 - 1 N - - HACE1 Asn758Ile N758I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 7 Y 2 N - - HACL1 Val438Leu V438L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HADH Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - HADH Ser292Phe S292F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - HADHA Tyr158Stop Y158X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - HAGHL Arg239Lys R239K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - HAL Ala484Val A484V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.121 Y - 2 - 1 N - - HAMP Gln54Lys Q54K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.194 Y Y -2 - 2 N - - HAO1 Asp201Asn D201N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HAO2 Ile75Val I75V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - HAP1 Glu463Lys E463K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAP1 Glu471Lys E471K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAP1 Glu488Lys E488K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAP1 Glu315Gly E315G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - HAP1 Glu323Gly E323G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HARBI1 Met216Thr M216T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - HARS Leu421Val L421V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HARS2 Gln273Stop Q273X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HAS2 Thr465Ala T465A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - HAS3 Thr267Met T267M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAUS3 Glu79Lys E79K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - HAUS3 Leu53Val L53V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - HAUS5 Arg75Cys R75C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9858 0.00010144 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.908 - - 8 Y 2 N - - HAUS6 Ala615Val A615V not reviewed Insufficiently evaluated not reviewed unknown Array rs62622380 1276 10750 0.118698 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HAUS6 Val370Phe V370F not reviewed Insufficiently evaluated not reviewed unknown Array 58 10754 0.00539334 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - HAUS8 Gly82Stop G82X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - HAUS8 Gly83Stop G83X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - HAX1 Gln107Glu Q107E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - HAX1 Gln155Glu Q155E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - -2 - 1 N - - HBG2 Trp131Arg W131R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HBG2 Glu126Val E126V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HBG2 Asp81His D81H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - HBG2 His78Leu H78L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HBG2 Lys67Met K67M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HBP1 Arg377Cys R377C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HBS1L Ile310Thr I310T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HBS1L Ile352Thr I352T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - HBS1L Gln108His Q108H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HBS1L Gln150His Q150H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - -1 - 0 N - - HBXIP Glu122Asp E122D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HCFC2 Ile179Leu I179L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.72 - - -2 - 1 N - - HCN3 Gly700Val G700V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 8 Y 0 N - - HCRTR1 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - HCRTR1 Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7516785 288 10758 0.0267708 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - HDAC10 Val524Leu V524L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDAC10 Val544Leu V544L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDAC10 Thr398Met T398M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HDAC10 Thr418Met T418M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - HDAC3 Asn411Ser N411S not reviewed Insufficiently evaluated not reviewed unknown Array rs34901743 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - HDAC7 Val726Ala V726A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HDAC7 Val763Ala V763A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HDAC7 Pro322Gln P322Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HDAC7 Pro359Gln P359Q not reviewed Insufficiently evaluated not reviewed unknown Array 56 10646 0.00526019 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HDAC7 Pro204Arg P204R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HDDC2 Arg64Gly R64G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 2 - - HDHD2 Leu117Met L117M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.513 - - -3 - 1 N - - HDLBP Asp1092Glu D1092E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - HDLBP His812Leu H812L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - HDLBP Ser61Pro S61P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - HEATR1 Ser1882Cys S1882C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HEATR1 Val1854Glu V1854E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - HEATR1 Val1854Gly V1854G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - HEATR1 Ser946Gly S946G not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - HEATR1 Val690Met V690M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR1 Leu459Ile L459I not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HEATR2 Val796Ala V796A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 2 N - - HEATR3 Leu106Ile L106I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - HEATR3 Arg302Ser R302S not reviewed Insufficiently evaluated not reviewed unknown Array rs34703459 406 10758 0.0377394 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.94 - - 3 - 2 N - - HEATR3 Phe432Leu F432L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - HEATR4 Val633Leu V633L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - HEATR4 His11Tyr H11Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - HEATR5A Ile1545Thr I1545T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744195 83 9780 0.00848671 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HEATR5B Asn1681Asp N1681D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HEATR5B Ser1107Gly S1107G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - HEATR5B Lys835Stop K835X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HEATR5B Asp704Gly D704G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - HEATR5B Gly503Arg G503R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - HEATR6 Arg1069Gln R1069Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - HEATR6 Met863Ile M863I not reviewed Insufficiently evaluated not reviewed unknown Array rs61752324 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - HEATR6 Gly381Stop G381X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HEATR7A His419Gln H419Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HECTD1 Pro2474Leu P2474L not reviewed Insufficiently evaluated not reviewed unknown Array 51 9622 0.00530035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HECTD1 Gln534Glu Q534E not reviewed Insufficiently evaluated not reviewed unknown Array rs35311292 53 9616 0.00551165 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.683 - - -2 - 1 N - - HECTD2 Lys278Arg K278R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HECTD3 Ala201Thr A201T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10370 9.6432e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HECW1 Arg499Lys R499K not reviewed Insufficiently evaluated not reviewed unknown Array 105 10268 0.0102259 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HECW1 Pro680His P680H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HECW2 Phe1307Leu F1307L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - HECW2 Thr1012Ala T1012A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 1 - 2 N - - HECW2 Asn872Asp N872D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - -1 - 1 N - - HECW2 Thr435Asn T435N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - HEG1 Pro921Thr P921T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - HEG1 Pro720Arg P720R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10272 9.7352e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - HEG1 Ser666Phe S666F not reviewed Insufficiently evaluated not reviewed unknown Array 148 10556 0.0140205 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 5 Y 0 N - - HELB Leu189Ser L189S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HELB Ile648Val I648V not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - HELB Met1054Val M1054V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - HELLS Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10228 0.00547517 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 3 - 10 - - HELLS Leu702Pro L702P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - HELLS Ala738Ser A738S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HELQ Val1094Met V1094M not reviewed Insufficiently evaluated not reviewed unknown Array rs17006794 410 10758 0.0381112 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HELQ Ile923Val I923V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HELQ Tyr876Phe Y876F not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.058 - - -4 - 0 N - - HELQ Arg634His R634H not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HELQ Ser256Gly S256G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - HELQ Asn229Asp N229D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - HELQ Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HELT Cys19Trp C19W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - HELZ Pro1345Ser P1345S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HELZ Asn532Ser N532S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEMGN Ser134Pro S134P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - HEPHL1 Ile648Val I648V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HERC2 Lys2480Asn K2480N not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.453 - - 1 - 1 N - - HERC2 Arg1542His R1542H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HERC2 Tyr1066His Y1066H not reviewed Insufficiently evaluated not reviewed unknown Array 234 10756 0.0217553 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - HERC2 Ser173Ala S173A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HERC4 Asp474Asn D474N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - HERC5 Ala301Thr A301T not reviewed Insufficiently evaluated not reviewed unknown Array rs17014143 266 10758 0.0247258 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HERC6 Val405Leu V405L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - HERPUD1 Pro300Ala P300A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HERPUD1 Pro324Ala P324A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 2 N - - HERPUD1 Pro325Ala P325A not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 2 - 0 N - - HEXA Glu506Asp E506D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y -2 - 2 N - - HEXB Leu128Arg L128R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.021 Y - 6 Y 1 N - - HEXIM2 Ala61Val A61V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - HEYL Ala211Gly A211G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HFM1 Pro1343Leu P1343L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HFM1 Arg297Trp R297W not reviewed Insufficiently evaluated not reviewed unknown Array 18 10742 0.00167567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HGFAC Gly526Ser G526S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HGS Pro764Leu P764L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10586 9.4464e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 7 Y 1 N - - HHAT Ser437Leu S437L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 6 Y 2 N - - HHAT Gly449Asp G449D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - HHATL Thr168Ser T168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - HHATL Arg98Cys R98C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HHIPL2 Arg695His R695H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - HHLA1 Thr518Ser T518S not reviewed Insufficiently evaluated not reviewed unknown Array 22 3234 0.00680272 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HHLA1 Trp254Arg W254R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HHLA2 Ile282Val I282V not reviewed Insufficiently evaluated not reviewed unknown Array 15 9590 0.00156413 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - HHLA2 Asn344Lys N344K not reviewed Insufficiently evaluated not reviewed unknown Array rs3792332 665 9532 0.069765 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - HIBADH Lys124Glu K124E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.29 - - 0 - 1 N - - HIBCH His25Tyr H25Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - -1 - 1 N - - HIF3A Leu3Gln L3Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.2 - - 5 Y 2 - 1 - - HINFP Glu449Asp E449D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - -2 - 0 N - - HIP1 Arg853Met R853M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - HIP1R Ile381Val I381V not reviewed Insufficiently evaluated not reviewed unknown Array 94 10728 0.00876212 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HIP1R Lys516Gln K516Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7972242 461 10740 0.0429236 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - HIPK1 Val1049Leu V1049L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIPK2 Ser143Arg S143R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - HIPK3 Asn650Ser N650S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 0 - 0 N - - HIRIP3 Arg460Gln R460Q not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 3 - 1 - - HISPPD1 Ile946Leu I946L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HISPPD2A Asp1024His D1024H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HISPPD2A Asp1238His D1238H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HISPPD2A Asp1263His D1263H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIST1H2AA Val50Ala V50A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - HIST1H2AA Ser15Pro S15P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIST1H2AD Lys96Arg K96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HIVEP1 Val828Ile V828I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228218 91 9766 0.00931804 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - HIVEP1 Ser1055Phe S1055F not reviewed Insufficiently evaluated not reviewed unknown Array rs35927245 86 9600 0.00895833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HIVEP1 Ile1852Thr I1852T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIVEP3 Arg2350Leu R2350L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIVEP3 Arg2351Leu R2351L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - HIVEP3 Pro2134Leu P2134L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HIVEP3 Arg2082Gln R2082Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - HIVEP3 Thr1230Ile T1230I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HIVEP3 Leu628Pro L628P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - HIVEP3 Ser252Leu S252L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 6 Y 1 N - - HJURP Asp519Asn D519N not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK1 His464Tyr H464Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK1 His475Tyr H475Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK1 His476Tyr H476Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.729 - - -1 - 1 N - - HK1 His480Tyr H480Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK2 Asp465His D465H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - HK3 Arg428Gln R428Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - HK3 Ala153Val A153V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HK3 Leu54Ile L54I not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - HKDC1 Asn116Ser N116S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - HKDC1 Cys368Arg C368R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HKDC1 Val799Ala V799A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - HKR1 Phe139Cys F139C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-A Phe133Leu F133L not reviewed Insufficiently evaluated not reviewed unknown Array rs1059488 407 7472 0.05447 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - HLA-A Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array rs9260157 695 7482 0.0928896 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-A Arg297Thr R297T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.821 - - 3 - 1 N - - HLA-B Ser336Arg S336R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HLA-B Ala329Pro A329P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 4 - 6 - - HLA-B Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - HLA-B Trp191Ser W191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 4 - 1 - - HLA-B Tyr91Cys Y91C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 4 - 1 - - HLA-B Met4Arg M4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 4 Y 4 - 10 - - HLA-C Met285Ile M285I not reviewed Insufficiently evaluated not reviewed unknown Array 575 10674 0.0538692 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-C Ile166Thr I166T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 3 - 2 N - - HLA-C Ser123Phe S123F not reviewed Insufficiently evaluated not reviewed unknown Array 4 66 0.0606061 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-C Ser101Thr S101T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 1 - 5 - - HLA-C Ser101Ile S101I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 5 Y 3 - 5 - - HLA-DMA Val166Gly V166G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HLA-DMA Pro155Thr P155T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DMB Thr123Ile T123I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.465 - - 3 - 1 N - - HLA-DMB Ser71Arg S71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-DMB Asp49Glu D49E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - -2 - 0 N - - HLA-DMB Ser45Cys S45C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 3 - - HLA-DMB Thr28Asn T28N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.071 - - 1 - 0 N - - HLA-DOA Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - HLA-DOA Asp76His D76H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - HLA-DOA Asp76Tyr D76Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 1 N - - HLA-DOB Gln250Stop Q250X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HLA-DOB Val244Ala V244A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 0 N - - HLA-DOB Leu234Arg L234R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 6 Y 1 N - - HLA-DOB Val210Ile V210I not reviewed Insufficiently evaluated not reviewed unknown Array rs11575907 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 1 - 4 - - HLA-DOB Thr198Pro T198P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.54 - - 4 Y 1 N - - HLA-DPA1 Glu210Asp E210D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -2 - 0 N - - HLA-DPA1 Phe191Leu F191L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 1 - 4 - - HLA-DPA1 Phe191Ile F191I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - HLA-DPA1 Lys142Asn K142N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - HLA-DPA1 Thr114Pro T114P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - HLA-DPA1 Thr114Ser T114S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - HLA-DPA1 Arg107Cys R107C not reviewed Insufficiently evaluated not reviewed unknown Array 3 7522 0.00039883 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 8 Y 0 N - - HLA-DPB1 Ile94Phe I94F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - HLA-DPB1 Lys98Stop K98X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - HLA-DPB1 Lys98Gln K98Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 1 - 5 - - HLA-DPB1 Met105Thr M105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.166 - - 2 - 0 N - - HLA-DPB1 Leu136Val L136V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.772 - - 0 - 2 - 1 - - HLA-DPB1 Leu136Met L136M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - -3 - 2 - 1 - - HLA-DPB1 Arg223Leu R223L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 6 Y 2 - 3 - - HLA-DPB1 Arg223Pro R223P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - 5 Y 3 - 4 - - HLA-DPB1 Ile244Asn I244N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 3 - 3 - - HLA-DQA1 Met99Val M99V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1064944 1 0 1 2 0 - - 2 - - - - - 2 - - - Y - - - - Y Y 0 - 3 N - - The genes coded for in the HLA region of the human genome are crucial to immune response. The region contains the Major Histocompatibility Complex (MHC) genes which code for proteins that form a complex with cell surface proteins. The HLA-DQ genes code for proteins are then recognized by helper T-cells which trigger antibody production and immune response. HLA-DQA1 Ala183Asp A183D not reviewed Insufficiently evaluated not reviewed unknown Array rs35773148 587 7510 0.0781624 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - HLA-DQA2 Thr49Ser T49S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 1 - 1 - - HLA-DQB1 Arg66Pro R66P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - HLA-DQB1 Phe41Leu F41L not reviewed Insufficiently evaluated not reviewed unknown Array rs12722107 56 10270 0.00545277 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - HLA-DQB1 Val15Glu V15E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - HLA-DRB1 Val188Met V188M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Gly154Ala G154A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DRB1 Tyr152Cys Y152C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HLA-DRB1 His141Gln H141Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DRB1 Asn62His N62H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DRB1 Asp57Glu D57E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DRB5 Gly154Ala G154A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 1 - 1 N - - HLA-DRB5 Asp40Val D40V not reviewed Insufficiently evaluated not reviewed unknown Array 385 5552 0.0693444 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HLA-DRB5 Arg33Stop R33X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HLA-DRB5 Gly30Arg G30R not reviewed Insufficiently evaluated not reviewed unknown Array 1913 10758 0.177821 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HLA-DRB5 Lys14Thr K14T not reviewed Insufficiently evaluated not reviewed unknown Array 7018 10632 0.660083 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 3 - - HLA-E Glu135Gln E135Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-E Thr211Ser T211S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-F Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array 44 7410 0.00593792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - HLA-F Lys239Met K239M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-F Lys331Met K331M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-F Lys240Asn K240N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-F Lys332Asn K332N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-G Glu85Asp E85D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-G Ala114Gly A114G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - HLA-G Leu290Gln L290Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - 5 Y 1 N - - HLCS Arg480Cys R480C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - 8 Y 1 N - - HLCS Thr158Met T158M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - HLTF Lys743Glu K743E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 0 - 1 N - - HLTF Glu362Gln E362Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228257 234 10758 0.0217513 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - HLTF Met339Thr M339T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - HLX Thr404Ile T404I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.806 - - 3 - 1 N - - HMBOX1 Met142Val M142V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - HMCN1 Arg940His R940H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - HMCN1 Met1700Ile M1700I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.047 Y - -1 - 1 N - - HMCN1 Glu2524Gly E2524G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HMCN1 Leu2756Ser L2756S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.418 Y - 6 Y 2 N - - HMCN1 Arg3131Lys R3131K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - -3 - 1 N - - HMCN1 Thr3879Arg T3879R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.288 Y - 3 - 2 N - - HMCN1 Pro4189Leu P4189L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.121 Y - 7 Y 1 N - - HMCN1 Asp4981Tyr D4981Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - HMG20A Ser39Asn S39N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - HMGB1L1 Lys157Asn K157N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HMGCR Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - HMGCR Ser147Pro S147P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - HMGN3 Gly12Ser G12S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 2 - 1 N - - HMGXB3 Ile420Val I420V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HMGXB4 Tyr104His Y104H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HMGXB4 Tyr213His Y213H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - HMHA1 Arg896Gln R896Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - HMHA1 Gly1019Arg G1019R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10750 0.0012093 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - HMMR Lys388Arg K388R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HMMR Lys459Arg K459R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HMMR Lys474Arg K474R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - HMMR Lys475Arg K475R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HMMR Gln461Arg Q461R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMMR Gln532Arg Q532R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMMR Gln547Arg Q547R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - HMMR Gln548Arg Q548R not reviewed Insufficiently evaluated not reviewed unknown Array 87 10752 0.00809152 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMMR Asp471His D471H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HMMR Asp542His D542H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HMMR Asp557His D557H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230362 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HMMR Asp558His D558H not reviewed Insufficiently evaluated not reviewed unknown Array 91 10756 0.00846039 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HMOX1 Ser71Gly S71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - HMOX1 Glu120Asp E120D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HMX3 His265Gln H265Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -1 - 2 N - - HNF1B Gly370Ser G370S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 2 - 1 N - - HNF4A Pro190Ser P190S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - HNF4A Pro212Ser P212S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 3 - 2 - 1 - - HNMT Ile288Thr I288T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - HNRNPCL1 Glu276Gly E276G not reviewed Insufficiently evaluated not reviewed unknown Array 3 8 0.375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HNRNPD Ser83Thr S83T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - HNRNPF Arg232Trp R232W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HNRNPK Lys198Arg K198R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HNRNPR Asp66Gly D66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HNRNPU Val614Asp V614D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HNRNPU Val633Asp V633D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HOMEZ Ala145Val A145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HOOK1 Met602Val M602V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.938 - - 0 - 2 N - - HOOK2 Thr137Met T137M not reviewed Insufficiently evaluated not reviewed unknown Array 6 9928 0.000604351 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - 2 - 0 N - - HOOK3 Leu282Pro L282P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.826 - - 7 Y 1 N - - HOOK3 Arg373Gly R373G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 6 Y 2 N - - HOXA13 Val310Ile V310I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.104 Y Y -4 - 2 N - - HOXA3 Met217Thr M217T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10752 0.00130208 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - HOXA3 Met375Thr M375T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - HOXA4 Ala287Thr A287T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 3 N - - HOXB8 Leu225Val L225V not reviewed Insufficiently evaluated not reviewed unknown Array 289 10758 0.0268637 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HOXB9 Tyr10Cys Y10C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - HOXD10 Ala233Asp A233D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - HOXD3 Thr125Asn T125N not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - HOXD8 Gly271Arg G271R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.306 - - 6 Y 1 N - - HP Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 10 - - HP1BP3 Lys517Arg K517R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - HPDL Gly292Glu G292E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 6 Y 0 N - - HPS1 Gly412Val G412V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y 8 Y 4 N - - HPS1 Glu9Asp E9D not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.937 Y Y -2 - 5 - 2 - - HPS3 Val189Ala V189A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HPS3 Leu786Pro L786P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 7 Y 4 N - - HPS4 Arg180His R180H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HPS4 Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - HPS6 Gly717Arg G717R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.135 - Y 6 Y 1 N - - HPX Arg371Trp R371W not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - HR Gly823Ser G823S not reviewed Insufficiently evaluated not reviewed unknown Array 102 9118 0.0111867 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 2 - 0 N - - HR Glu506Gly E506G not reviewed Insufficiently evaluated not reviewed unknown Array rs112016555 20 10748 0.00186081 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 - - 6 Y 2 N - - HR Gly339Cys G339C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.127 - - 7 Y 1 - 3 - - HRASLS Ala51Val A51V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRASLS5 Ser152Thr S152T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HRASLS5 Ser162Thr S162T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - -2 - 2 N - - HRC Val672Ile V672I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10756 0.00557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.055 - - -4 - 0 N - - HRC Ser602Arg S602R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - 3 - 2 - 2 - - HRC Gly453Ser G453S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 2 - 1 N - - HRC Ser358Pro S358P not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.219 - - 3 - 1 N - - HRC Asp186His D186H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - HRCT1 Arg63Gly R63G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRCT1 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array rs7852213 714 10058 0.0709883 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HRCT1 Leu100His L100H not reviewed Insufficiently evaluated not reviewed unknown Array 22 9564 0.00230029 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRG Pro234Leu P234L not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - HRG Phe244Leu F244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - HRG Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array 231 10758 0.0214724 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 2 - 1 - - HRH1 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - HRH4 Ser169Gly S169G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRH4 Ser257Gly S257G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 1 - 1 - - HRNBP3 Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Ser980Tyr S980Y not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR Gln940His Q940H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Ser803Gly S803G not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRSP12 Tyr32Cys Y32C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - HS2ST1 Pro211Ser P211S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - HS3ST1 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HS3ST4 Arg419Leu R419L not reviewed Insufficiently evaluated not reviewed unknown Array rs9930821 246 7820 0.0314578 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.146 - - 6 Y 1 - 5 - - HS6ST3 Lys265Arg K265R not reviewed Insufficiently evaluated not reviewed unknown Array rs9516771 451 10758 0.0419223 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 1 - 4 - - HS6ST3 Lys451Gln K451Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - HSD11B1 Ile11Thr I11T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - HSD17B13 Thr203Ile T203I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSD17B13 Thr239Ile T239I not reviewed Insufficiently evaluated not reviewed unknown Array 133 10752 0.0123698 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSD17B13 Ala78Val A78V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSD17B2 Pro205Arg P205R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - HSD17B2 Ile300Val I300V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 0 N - - HSD17B4 Glu651Gly E651G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 1 N - - HSD3B2 Glu44Asp E44D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.056 Y - -2 - 1 N - - HSDL1 Asn205Ser N205S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSDL1 Asn260Ser N260S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSH2D Arg294Stop R294X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HSP90AA1 Ser677Arg S677R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSP90AA1 Ser799Arg S799R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSP90AA1 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSP90AB1 Gln674His Q674H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - HSP90AB1 Arg719His R719H not reviewed Insufficiently evaluated not reviewed unknown Array 331 10758 0.0307678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HSP90B1 Glu548Gly E548G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - HSPA14 Arg118Gly R118G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSPA1L Asn550Ser N550S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 1 - 1 - - HSPA1L Ala8Pro A8P not reviewed Insufficiently evaluated not reviewed unknown Array rs9469057 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 2 - 3 - 2 - - HSPA2 Leu395Gln L395Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.202 - - 5 Y 1 N - - HSPA2 Asn551Lys N551K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 1 - 1 - 1 - - HSPA4L Ser429Pro S429P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSPA9 Glu571Asp E571D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - HSPB1 Pro60Arg P60R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 5 Y 2 N - - HSPB3 Glu83Asp E83D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - HSPB9 Lys100Asn K100N not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 0 N - - HSPG2 Asp4104Glu D4104E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - HSPG2 Ser3973Gly S3973G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - HSPG2 Leu3944Phe L3944F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 Tyr3867Stop Y3867X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - HSPG2 Arg3632Pro R3632P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - HSPG2 Arg3632Leu R3632L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HSPG2 His3420Gln H3420Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - HSPG2 Ser2995Arg S2995R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - HSPG2 Ser2995Cys S2995C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - HSPG2 Gly2950Arg G2950R not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HSPG2 Arg2870Gln R2870Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 Arg2504His R2504H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HSPG2 Gly2283Asp G2283D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - HSPG2 Gly2099Ser G2099S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10700 0.000747663 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - HSPG2 Ala1236Gly A1236G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HSPG2 Gly1230Ser G1230S not reviewed Insufficiently evaluated not reviewed unknown Array rs28546127 847 10754 0.0787614 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - HSPG2 Gly1230Arg G1230R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HSPG2 Glu1113Lys E1113K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 Asn957His N957H not reviewed Insufficiently evaluated not reviewed unknown Array rs62618730 217 10758 0.020171 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HSPG2 Ala711Thr A711T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HSPG2 Ala680Thr A680T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10750 0.000837209 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HSPH1 Glu130Gln E130Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - -2 - 1 N - - HSPH1 Lys124Arg K124R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.764 - - -3 - 1 N - - HTR1D Lys289Stop K289X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HTR1F Asp257Gly D257G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.547 - - 4 Y 1 N - - HTR2B Gly51Glu G51E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731726 265 10758 0.0246328 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HTR3E Pro380Leu P380L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - HTR3E Arg452His R452H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR4 Cys372Tyr C372Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HTR4 Cys386Tyr C386Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HTR4 Cys412Tyr C412Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34826744 266 10758 0.0247258 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HTRA1 Ile296Thr I296T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - HUNK Ser575Pro S575P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - HUNK Ser595Gly S595G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HUWE1 Asn483Asp N483D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - -1 - 0 N - - HYAL4 Phe138Leu F138L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - HYAL4 Met391Val M391V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HYDIN Ile4043Val I4043V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HYDIN Arg3810Cys R3810C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9472 0.000105574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HYDIN Met2808Ile M2808I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Ala1964Ser A1964S not reviewed Insufficiently evaluated not reviewed unknown Array 6 9270 0.000647249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - HYDIN Arg1891His R1891H not reviewed Insufficiently evaluated not reviewed unknown Array rs783732 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - HYDIN Val1554Ala V1554A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - HYDIN Ile1323Thr I1323T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - HYDIN Leu873Val L873V not reviewed Insufficiently evaluated not reviewed unknown Array rs28522850 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - HYDIN His610Arg H610R not reviewed Insufficiently evaluated not reviewed unknown Array 135 10748 0.0125605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.356 - - 1 - 1 N - - HYDIN Lys600Arg K600R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.832 - - -3 - 1 N - - HYDIN Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - HYDIN Met15Thr M15T not reviewed Insufficiently evaluated not reviewed unknown Array rs75270082 475 10758 0.0441532 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - HYLS1 His158Arg H158R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 1 - 1 N - - HYLS1 Phe217Cys F217C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 3 N - - HYOU1 Glu961Gly E961G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HYOU1 Ala777Pro A777P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.759 - - 2 - 1 N - - IARS Tyr888Stop Y888X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IARS Glu274Gly E274G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IARS Asn146Asp N146D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IARS2 Trp600Arg W600R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IBSP Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - -4 - 2 - 2 - - IBTK Leu1163Trp L1163W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - IBTK Gly738Glu G738E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - IBTK Met5Ile M5I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 1 - 10 - - ICA1L Met166Ile M166I not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - ICAM1 Leu64Met L64M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -3 - 1 N - - ICAM1 Glu283Lys E283K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.523 - - 0 - 1 N - - ICAM1 Pro404Leu P404L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - ICAM4 Lys258Stop K258X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ICAM5 Arg745Gln R745Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ICOS Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - ICT1 Ser162Arg S162R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - ID1 Asn63Tyr N63Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 5 Y 3 - 5 - - ID3 Glu86Gln E86Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61749352 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IDE Ala737Ser A737S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - IDE Asp564Gly D564G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - IDE Trp513Stop W513X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IDE Glu448Gly E448G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IDH1 Gly322Arg G322R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - IDH1 Lys66Arg K66R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - IDH3B Thr360Ala T360A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 2 - - IDH3B Phe11Leu F11L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IDI2 Trp180Arg W180R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IDI2 Lys36Arg K36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - IDO2 Asp241Gly D241G not reviewed Insufficiently evaluated not reviewed unknown Array 6 9788 0.000612995 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IDO2 Pro261His P261H not reviewed Insufficiently evaluated not reviewed unknown Array 20 9774 0.00204624 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IDO2 Leu264Met L264M not reviewed Insufficiently evaluated not reviewed unknown Array 21 9770 0.00214944 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IDO2 Met309Lys M309K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IDO2 Ala399Thr A399T not reviewed Insufficiently evaluated not reviewed unknown Array rs72632016 937 9960 0.0940763 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IDUA Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 1 - 2 N - - IDUA Ser307Phe S307F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y 5 Y 4 N - - IFI16 Ser160Phe S160F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - IFI27 Leu86Val L86V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFI27 Thr87Ser T87S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - -2 - 1 N - - IFI27L2 Glu103Lys E103K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFI44 His11Arg H11R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - IFIH1 Val404Ala V404A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - IFIH1 Arg374Cys R374C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - IFIT1L Lys238Glu K238E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFIT3 Arg444Ser R444S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFIT5 Glu358Lys E358K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - IFITM2 Ile121Leu I121L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - IFITM5 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 1 N - - IFLTD1 Arg304Leu R304L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFLTD1 Arg348Leu R348L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFLTD1 Arg367Leu R367L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.594 - - 6 Y 1 N - - IFLTD1 Arg388Leu R388L not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFNA1 Ala163Gly A163G not reviewed Insufficiently evaluated not reviewed unknown Array rs33965070 917 10680 0.0858614 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IFNA10 Arg157Lys R157K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IFNA16 Thr124Ile T124I not reviewed Insufficiently evaluated not reviewed unknown Array rs28368161 487 10758 0.0452686 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - IFNA16 Asp95His D95H not reviewed Insufficiently evaluated not reviewed unknown Array rs28368160 499 10758 0.0463841 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.726 - - 3 - 2 - 1 - - IFNA16 Val65Glu V65E not reviewed Insufficiently evaluated not reviewed unknown Array rs28368159 501 10758 0.04657 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - IFNA16 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array rs28368158 412 10758 0.0382971 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - IFNA2 Leu115Gln L115Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IFNA2 Val22Ala V22A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFNA6 Gln85Stop Q85X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IFNA7 Lys182Gln K182Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFNA7 Gly23Ser G23S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.719 - - 2 - 1 N - - IFNA8 Glu137Lys E137K not reviewed Insufficiently evaluated not reviewed unknown Array rs3739630 487 10758 0.0452686 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 3 - - IFNAR1 Pro335Ser P335S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 1 - - IFNAR1 Thr359Met T359M not reviewed Insufficiently evaluated not reviewed unknown Array rs17875834 571 10756 0.0530866 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - IFNAR2 Phe10Ile F10I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 7 - - IFNAR2 Asp319Gly D319G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 4 Y 0 N - - IFNE Asn43Ser N43S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.504 - - 0 - 1 N - - IFNK Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - IFNK Ala94Val A94V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFRD2 Glu368Asp E368D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - IFT122 Ser235Cys S235C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT122 Ser287Cys S287C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT122 Ser346Cys S346C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT122 Ser397Cys S397C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT122 Gly778Glu G778E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT122 Gly830Glu G830E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT122 Gly889Glu G889E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT122 Gly940Glu G940E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT140 Arg1403Gln R1403Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10746 0.000651405 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - 0 - 1 N - - IFT140 Pro670Ser P670S not reviewed Insufficiently evaluated not reviewed unknown Array rs34900355 252 10758 0.0234244 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - IFT140 Cys525Ser C525S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - IFT140 Val398Leu V398L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - IFT140 Val398Phe V398F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - IFT140 Arg280Gln R280Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35404373 252 10758 0.0234244 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 1 - 2 - - IFT172 Glu1498Gly E1498G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - IFT172 Ser1125Pro S1125P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - IFT80 Arg761Thr R761T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 2 N - - IFT81 Tyr99Cys Y99C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 6 Y 2 N - - IGDCC3 Ser220Ile S220I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - IGDCC3 Glu84Asp E84D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IGDCC4 Arg683His R683H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - IGDCC4 Arg161Cys R161C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - IGF2 Arg156His R156H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.975 Y Y 1 - 4 N - - IGF2 Arg212His R212H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732764 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IGF2 Cys22Arg C22R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - IGF2 Cys78Arg C78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - IGF2BP1 Cys198Arg C198R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IGF2BP1 Cys337Arg C337R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - IGF2BP2 Ile373Thr I373T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGF2BP2 Ser311Pro S311P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGF2BP2 Ile192Val I192V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IGF2R Asp178Asn D178N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 3 - 1 - - IGF2R Lys645Glu K645E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - IGF2R Thr1184Ser T1184S not reviewed Insufficiently evaluated not reviewed unknown Array rs8191844 104 10758 0.00966722 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.963 - - -2 - 2 N - - IGF2R Arg1335His R1335H not reviewed Insufficiently evaluated not reviewed unknown Array rs8191860 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.362 - - 1 - 1 N - - IGF2R Arg2006Gln R2006Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - IGFALS Ala357Thr A357T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - IGFALS Ala395Thr A395T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGFBP1 Val9Phe V9F not reviewed Insufficiently evaluated not reviewed unknown Array 23 10754 0.00213874 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGFBP2 Met169Ile M169I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - IGHMBP2 Ala75Pro A75P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - IGHMBP2 Gln277Arg Q277R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - IGLL1 Thr146Met T146M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - 2 - 1 N - - IGLL3 Tyr61Cys Y61C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGLL3 Thr69Ile T69I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGLL3 Pro78Arg P78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IGLL3 Ser134Cys S134C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGLL3 Thr193Met T193M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGSF1 Asp416Val D416V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - IGSF10 Gln2145His Q2145H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - IGSF10 Pro1567Leu P1567L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 1 N - - IGSF10 Glu1070Gly E1070G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGSF10 Asn613Ser N613S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - IGSF10 Asn439Asp N439D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - -1 - 0 N - - IGSF11 Thr94Ile T94I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGSF11 Thr95Ile T95I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - IGSF2 Arg933Gln R933Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF2 Val965Ile V965I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - IGSF2 Arg988Cys R988C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - IGSF21 Ala234Thr A234T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGSF21 Arg245His R245H not reviewed Insufficiently evaluated not reviewed unknown Array rs2355877 289 10758 0.0268637 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 2 - 4 - - IGSF22 Arg672Cys R672C not reviewed Insufficiently evaluated not reviewed unknown Array 586 10734 0.0545929 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - IGSF5 Ile69Leu I69L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - IGSF5 Ile110Phe I110F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - IGSF5 Gly265Val G265V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 8 Y 2 N - - IGSF8 Glu442Asp E442D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 1 - 2 - - IGSF9 Val82Met V82M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.156 - - 0 - 0 N - - IK Pro15His P15H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 10 - - IKBKAP Gly765Ala G765A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IKBKAP Arg525Gln R525Q not reviewed Insufficiently evaluated not reviewed unknown Array rs838827 853 10758 0.0792898 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - IKBKAP Ser251Gly S251G not reviewed Insufficiently evaluated not reviewed unknown Array rs17853166 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - IKBKAP Ser96Gly S96G not reviewed Insufficiently evaluated not reviewed unknown Array rs35942802 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - IKBKAP Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IKBKE Glu128Lys E128K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 3 - 2 - - IKIP Ser112Thr S112T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IKZF2 Asp13Val D13V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 8 Y 0 N - - IKZF3 Ser343Ala S343A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IKZF3 Ser360Ala S360A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IKZF3 Ser382Ala S382A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IKZF3 Ser399Ala S399A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IKZF3 Ser438Ala S438A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IKZF4 Gly351Cys G351C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - 7 Y 1 N - - IL10RA Thr46Ala T46A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - IL10RB Val32Ile V32I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IL12RB1 Ser612Phe S612F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - 5 Y 2 N - - IL12RB1 Gly353Glu G353E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.086 Y - 6 Y 1 N - - IL12RB1 Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.688 Y - 7 Y 2 N - - IL12RB2 Trp696Leu W696L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - IL12RB2 Val764Met V764M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - IL16 Asn172Ser N172S not reviewed Insufficiently evaluated not reviewed unknown Array rs113332687 71 9760 0.00727459 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL16 Asp155Gly D155G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL16 Asp856Gly D856G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL16 Cys274Arg C274R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL16 Cys975Arg C975R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL17RA Glu607Lys E607K not reviewed Insufficiently evaluated not reviewed unknown Array 86 10636 0.00808575 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - IL17RC Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - IL17RC Val149Leu V149L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17RC Val220Leu V220L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.58 - - 0 - 1 N - - IL17RE Ser131Thr S131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL17RE Ser247Thr S247T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -2 - 1 N - - IL17RE Pro421Leu P421L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL17RE Pro537Leu P537L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - IL17RE Ala516Thr A516T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17RE Ala632Thr A632T not reviewed Insufficiently evaluated not reviewed unknown Array 7 5866 0.00119332 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL18BP Gly117Glu G117E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL18R1 Gln487Arg Q487R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - IL18RAP Ser23Ala S23A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.264 - - -1 - 1 N - - IL18RAP Val263Ala V263A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 2 - 2 - 1 - - IL1F8 Arg36Cys R36C not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.715 - - 8 Y 2 - 3 - - IL1R1 Thr344Met T344M not reviewed Insufficiently evaluated not reviewed unknown Array rs28362304 78 10750 0.00725581 4 0 5 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - IL1R2 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - IL1RAP Leu360Pro L360P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - IL1RL2 Ala510Val A510V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - IL22RA1 Met407Val M407V not reviewed Insufficiently evaluated not reviewed unknown Array 131 10756 0.0121792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - IL22RA2 Ser74Thr S74T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - IL29 Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 2 - 1 - - IL2RA Ser252Arg S252R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - IL2RB Glu75Asp E75D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - IL2RG Ser103Cys S103C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 3 - 3 - 1 - - IL3 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array rs35415145 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL31RA Arg280Gln R280Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - IL31RA Glu514Lys E514K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL31RA Thr658Met T658M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL34 Glu238Lys E238K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10740 0.000372439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL4I1 Met524Val M524V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL4I1 Met546Val M546V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL4I1 Asn114Asp N114D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL4I1 Asn92Asp N92D not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.103 - - -1 - 0 N - - IL4R Pro471Leu P471L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 7 Y 0 N - - IL4R Ala614Pro A614P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - IL4R Pro662Ser P662S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.391 - - 3 - 1 N - - IL4R Cys718Tyr C718Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - IL5RA Ser397Asn S397N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL5RA Ser359Leu S359L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL6R Val356Ala V356A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 2 - 0 N - - IL6R Asp358Val D358V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 8 Y 1 - 6 - - IL6ST Phe44Val F44V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IL7 Tyr8Cys Y8C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 3 - 10 - - IL7R His165Gln H165Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - IL7R Pro350Ser P350S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - IL8RA Arg144Cys R144C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL8RA Asp85Asn D85N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ILDR2 Met309Thr M309T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - IMMP1L Arg155Cys R155C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 8 Y 2 N - - IMMP2L Ser4Pro S4P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - IMMT Pro124Ala P124A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 4 - - IMP3 Val136Ile V136I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - -4 - 0 N - - IMP4 Arg48Gln R48Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 2 - 1 - - IMP4 Val138Ala V138A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 2 - 1 N - - IMP4 Arg240His R240H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - 1 - 0 N - - IMP4 Arg283Cys R283C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 8 Y 2 N - - IMP5 Val26Met V26M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IMPA2 Thr55Ala T55A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - IMPG1 Leu412Pro L412P not reviewed Insufficiently evaluated not reviewed unknown Array rs41269327 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - IMPG1 Thr339Asn T339N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.278 - - 1 - 1 N - - IMPG1 Leu277Phe L277F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - IMPG2 Glu1204Gly E1204G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - IMPG2 Tyr1173His Y1173H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - IMPG2 Pro1147Ser P1147S not reviewed Insufficiently evaluated not reviewed unknown Array 240 10758 0.022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - INADL Thr669Ile T669I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - INADL Leu689Val L689V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - INADL Glu874Gly E874G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 2 N - - INADL Gln1346His Q1346H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INADL Arg1717Gln R1717Q not reviewed Insufficiently evaluated not reviewed unknown Array 45 9808 0.00458809 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - INADL Thr1799Met T1799M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9776 0.000102291 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INCA1 Arg79Lys R79K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - INCENP Arg304Trp R304W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INCENP Glu423Asp E423D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - INCENP Met506Lys M506K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 4 - - INF2 Pro516Leu P516L not reviewed Insufficiently evaluated not reviewed unknown Array 68 9282 0.00732601 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ING1 Glu48Stop E48X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ING1 Gly58Trp G58W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ING1 Gln109Arg Q109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ING1 Gln153Arg Q153R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ING1 Gln296Arg Q296R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ING1 Gln84Arg Q84R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ING3 Lys148Arg K148R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -3 - 2 N - - ING4 Val141Gly V141G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ING4 Val161Gly V161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ING4 Val162Gly V162G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ING4 Val164Gly V164G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ING4 Val165Gly V165G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - INHA Arg208Gly R208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - INHBA Tyr404Cys Y404C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - INHBA Gly199Ala G199A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - INHBC Thr166Pro T166P not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.216 - - 4 Y 1 N - - INO80 Gln1215Arg Q1215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - INPP5E Arg468His R468H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - INPP5F Val298Ala V298A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - 2 - 1 N - - INPP5F Ile732Val I732V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - -4 - 2 - 1 - - INPP5F Gln1024Arg Q1024R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 0 - 0 N - - INPP5J Gly431Glu G431E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - INPP5J Arg597His R597H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INPPL1 Arg209Pro R209P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 5 Y 2 - 1 - - INPPL1 Val634Ala V634A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - INSL4 Ile108Thr I108T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - INSL6 Phe80Leu F80L not reviewed Insufficiently evaluated not reviewed unknown Array rs2149554 1086 10758 0.100948 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - INSM2 Arg358Stop R358X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - INSM2 Arg358Leu R358L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - INSR Arg1146Trp R1146W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - INSR Arg1158Trp R1158W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - INSR Asp546Glu D546E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y - -2 - 3 N - - INSR Asp261Glu D261E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - INSRR Gly173Asp G173D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - INTS3 Ile440Val I440V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INTS4 Ile256Asn I256N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INTS8 Thr895Ala T895A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - INTS8 Leu941Met L941M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - -3 - 2 N - - INTS9 Gly218Arg G218R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - INTS9 Gly239Arg G239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 1 N - - INTU Cys692Gly C692G not reviewed Insufficiently evaluated not reviewed unknown Array rs34311863 91 10758 0.00845882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - INVS Lys567Arg K567R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.207 Y - -3 - 2 N - - IP6K1 Met39Val M39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.51 - - 0 - 1 N - - IP6K2 Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IP6K2 Asn36Ser N36S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 0 - 1 N - - IP6K3 Glu347Gln E347Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - IPO11 Phe273Leu F273L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - IPO11 Phe313Leu F313L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10664 0.0014066 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - IPO13 Gln464Leu Q464L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IPO4 Tyr460Cys Y460C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 6 Y 2 N - - IPO5 Asn144Asp N144D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IPO7 Glu883Gly E883G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - IPO7 Asn971Ile N971I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IPO8 Glu274Gly E274G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - IPO9 Leu688Pro L688P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - IPP Arg523Gly R523G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - IQCB1 Met186Val M186V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - IQCC Gly448Val G448V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 8 Y 0 N - - IQCC Gly528Val G528V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IQCE Gly646Glu G646E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQCE Gly662Glu G662E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - IQCF5 Arg28Stop R28X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IQCH Ser173Gly S173G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - IQCH Arg175His R175H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQCH Arg423His R423H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - IQGAP1 Cys1270Trp C1270W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IQGAP1 Ile1297Val I1297V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - -4 - 2 N - - IQGAP2 Pro479His P479H not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IQGAP2 Arg732Gln R732Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQGAP3 Arg1000His R1000H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQSEC1 Glu747Gly E747G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQSEC1 Glu761Gly E761G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - IQSEC1 Lys405Arg K405R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IQSEC1 Lys419Arg K419R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - IQSEC1 Lys278Thr K278T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQSEC1 Lys292Thr K292T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - IQUB Asp691Asn D691N not reviewed Insufficiently evaluated not reviewed unknown Array rs17146009 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - IQUB Arg543Gly R543G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQWD1 Ser376Gly S376G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IRAK1 Leu568Phe L568F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRAK1 Leu617Phe L617F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRAK1 Leu647Phe L647F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - IRAK1 Asn233Asp N233D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -1 - 2 N - - IRAK2 Leu503Ile L503I not reviewed Insufficiently evaluated not reviewed unknown Array rs9854688 479 10758 0.044525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 1 - 6 - - IRAK3 Cys404Tyr C404Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRAK3 Cys465Tyr C465Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - IRAK3 Asp432Gly D432G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IRAK3 Asp493Gly D493G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - IRAK4 Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - -4 - 4 - 1 - - IRAK4 Asp107Asn D107N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - IRAK4 Asp231Asn D231N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 1 N - - IRAK4 Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - IRAK4 Val263Ile V263I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - -4 - 1 N - - IREB2 Ile580Ser I580S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - IREB2 Ile732Val I732V not reviewed Insufficiently evaluated not reviewed unknown Array rs8032410 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - IRF6 Val269Ile V269I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -4 - 3 - 1 - - IRGQ Gly399Cys G399C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 7 Y 0 N - - IRGQ Ser292Pro S292P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IRGQ Ala290Thr A290T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10750 0.00195349 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 1 N - - IRGQ Leu237Phe L237F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 0 - 1 N - - IRGQ Ala138Val A138V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 2 - 1 N - - IRS1 Gly1122Val G1122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 8 Y 1 N - - IRS1 Ser1105Pro S1105P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - IRS2 Gly1230Arg G1230R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10278 9.7295e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - IRS4 Asp878Gly D878G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 4 Y 0 N - - IRS4 Thr643Ala T643A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - 1 - 0 N - - IRS4 Arg444Gly R444G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRX2 Glu271Gln E271Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - IRX2 Asp201Asn D201N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - IRX4 Ser190Phe S190F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - IRX6 Gly233Ser G233S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - ISCU Asn158Lys N158K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ISCU Pro134Ala P134A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 3 - - ISG15 Ser83Thr S83T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.704 - - -2 - 2 - 8 - - ISG20L2 Asn349Ser N349S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISG20L2 Glu20Gln E20Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - -2 - 1 N - - ISM1 Asp133Asn D133N not reviewed Insufficiently evaluated not reviewed unknown Array 32 9916 0.00322711 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - ISOC2 Asn30Ile N30I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.079 - - 7 Y 0 N - - ISYNA1 Met446Val M446V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISYNA1 Arg212Gln R212Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743938 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.352 - - 0 - 1 N - - ITCH Arg174Lys R174K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - ITCH Ser560Pro S560P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - ITFG1 Pro16Arg P16R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 5 Y 0 N - - ITGA1 Ile475Val I475V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITGA1 Lys744Arg K744R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748765 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - ITGA1 Ile775Met I775M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - ITGA10 Gly398Asp G398D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ITGA10 Gly554Arg G554R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 6 Y 0 N - - ITGA10 Gln663Pro Q663P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 4 Y 1 N - - ITGA10 Gly774Asp G774D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - ITGA11 Ile870Phe I870F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10242 9.7637e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 2 N - - ITGA2B His683Arg H683R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGA2B Val638Ile V638I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGA2B Val513Met V513M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ITGA3 Met580Thr M580T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 2 - 2 N - - ITGA5 Ala495Thr A495T not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITGA5 Gln262Arg Q262R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - ITGA6 Asn927Ser N927S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ITGA6 Asn958Ser N958S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ITGA7 Ile1001Thr I1001T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ITGA7 Ile904Thr I904T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ITGA7 Ile997Thr I997T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ITGA7 Ile808Val I808V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGA7 Ile901Val I901V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGA7 Ile905Val I905V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ITGA7 Cys562Stop C562X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - ITGA7 Cys655Stop C655X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - ITGA7 Cys659Stop C659X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - ITGA7 Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGA7 Ala204Thr A204T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGA8 Arg790Thr R790T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - ITGA8 Gly334Val G334V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ITGA9 Met551Thr M551T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.112 - - 2 - 0 N - - ITGAD Leu224Pro L224P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITGAD Leu1023Gln L1023Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITGAD Ala1116Val A1116V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGAE Arg807Cys R807C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGAE Gly772Arg G772R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITGAV Asp799Asn D799N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAV Asp809Asn D809N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAV Asp845Asn D845N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGAV Ile866Thr I866T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGAV Ile876Thr I876T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGAV Ile912Thr I912T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGAX Asn302His N302H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - ITGAX Phe971Leu F971L not reviewed Insufficiently evaluated not reviewed unknown Array rs2230427 607 10758 0.0564231 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.6 - - 0 - 0 N - - ITGB1 Tyr153Stop Y153X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - ITGB2 Cys598Phe C598F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 4 Y 3 N - - ITGB2 Thr416Met T416M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.064 Y - 2 - 1 N - - ITGB4 Gly690Ser G690S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ITGB4 Ser1499Cys S1499C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ITGB8 Tyr314Stop Y314X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - ITGBL1 Gly106Asp G106D not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - ITGBL1 Gly259Glu G259E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ITGBL1 Glu416Gly E416G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ITIH3 Met477Ile M477I not reviewed Insufficiently evaluated not reviewed unknown Array 183 10466 0.0174852 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - -1 - 0 N - - ITIH3 Pro640Leu P640L not reviewed Insufficiently evaluated not reviewed unknown Array rs60805548 478 9962 0.0479823 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - ITIH4 Gln915Glu Q915E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ITIH4 Arg910His R910H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITIH4 Ser366Gly S366G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITIH5 Leu729Arg L729R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITIH5 Leu943Arg L943R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITIH5 Val657Ala V657A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITIH5 Val871Ala V871A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731872 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ITIH5 Pro602Leu P602L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITIH5 Pro816Leu P816L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - ITIH5 Pro278Arg P278R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITIH5 Pro492Arg P492R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITIH5 Arg273His R273H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ITIH5 Arg487His R487H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - ITIH5 Ser255Leu S255L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITIH5 Ser469Leu S469L not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITIH5L Ser677Phe S677F not reviewed Insufficiently evaluated not reviewed unknown Array 35 8761 0.00399498 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - ITK Ser24Thr S24T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - -2 - 1 - 3 - - ITLN1 Lys193Arg K193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - -3 - 0 N - - ITM2B Lys95Thr K95T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - ITM2C Met112Val M112V not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ITM2C Met65Val M65V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 1 N - - ITPA Pro15Ala P15A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - ITPA Pro32Ala P32A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 1 - 10 - - ITPK1 Phe307Leu F307L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPKB Thr902Met T902M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - 2 - 1 N - - ITPKC Leu195Phe L195F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.38 - - 0 - 1 N - - ITPR3 Asn980Lys N980K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITPR3 Gln1450Leu Q1450L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITPR3 Ile1959Thr I1959T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITSN2 Thr1157Ala T1157A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITSN2 Thr1184Ala T1184A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 1 N - - ITSN2 Ile552Met I552M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - -1 - 0 N - - IWS1 Ser720Asn S720N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - IWS1 Val425Ile V425I not reviewed Insufficiently evaluated not reviewed unknown Array rs34785867 260 10758 0.0241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - IWS1 Asn114Ile N114I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 7 Y 0 N - - IYD Asn108Ser N108S not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - IZUMO1 Glu120Lys E120K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - JAG1 Tyr1139Stop Y1139X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - JAG1 Tyr255Stop Y255X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - JAG2 Glu348Stop E348X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - JAK2 Asn515Ser N515S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.043 - - 0 - 0 N - - JAK2 Leu732Val L732V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.675 - - 0 - 1 N - - JAK2 His1077Arg H1077R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 1 - 2 N - - JAKMIP2 Arg796Gly R796G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.944 - - 6 Y 2 N - - JAKMIP2 His678Arg H678R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 1 - 2 N - - JHDM1D Pro769Leu P769L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10008 0.00219824 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - JHDM1D Arg644Cys R644C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 1 - 3 - - JMJD1C Lys2276Glu K2276E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD1C Lys2513Glu K2513E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - JMJD5 Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD5 Val249Met V249M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD5 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - JMJD5 Pro254Leu P254L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - JMJD7 Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD7-PLA2G4B Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD7-PLA2G4B Arg365Cys R365C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - JMJD7-PLA2G4B Gly366Ser G366S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JMJD8 Val278Ile V278I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - JMY Ala592Val A592V not reviewed Insufficiently evaluated not reviewed unknown Array 158 9850 0.0160406 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - JMY Pro772Ser P772S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - JPH1 Ala586Thr A586T not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - JPH2 Ala650Pro A650P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 1 N - - JSRP1 Asp33Glu D33E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - KALRN Glu451Asp E451D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KALRN Gln837Arg Q837R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KALRN Trp2375Stop W2375X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KALRN Trp678Stop W678X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KANK1 Thr116Ala T116A not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 1 - 0 N - - KANK1 Thr13Ala T13A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KANK1 Thr171Ala T171A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - KANK1 Arg276Stop R276X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KANK1 Arg434Stop R434X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KANK1 Glu359Gly E359G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KANK1 Glu517Gly E517G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KANK1 Val376Met V376M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KANK1 Val534Met V534M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KANK1 Gln680Arg Q680R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KANK1 Gln838Arg Q838R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - KANK1 Glu813Gly E813G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KANK1 Glu971Gly E971G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - 6 Y 0 N - - KANK1 Ala1100Ser A1100S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KANK1 Ala1258Ser A1258S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 1 N - - KANK1 Lys1156Arg K1156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KANK1 Lys1314Arg K1314R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - KANK2 Arg566Gln R566Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KANK2 Ala554Val A554V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KANK2 Pro324Leu P324L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - KANK2 Ala290Ser A290S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.74 - - -1 - 1 N - - KANK4 Thr724Ile T724I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KANK4 Arg517Lys R517K not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - KANK4 Thr410Met T410M not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 2 N - - KARS His348Arg H348R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - KARS His376Arg H376R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KAT2A Ala580Val A580V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - KATNA1 Asp210Gly D210G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.552 - - 4 Y 1 N - - KATNAL2 Ala124Val A124V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KATNAL2 Glu319Asp E319D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KATNB1 Ser363Ile S363I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - KAZALD1 Arg71Trp R71W not reviewed Insufficiently evaluated not reviewed unknown Array 92 9964 0.00923324 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - KAZALD1 Gly139Asp G139D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.705 - - 4 Y 1 N - - KBTBD10 Leu144Pro L144P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 7 Y 1 N - - KBTBD10 Ser539Gly S539G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.567 - - 2 - 1 N - - KBTBD4 Leu63Pro L63P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 3 - 1 - - KBTBD4 Leu79Pro L79P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNA1 Arg204His R204H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - KCNA1 Met449Ile M449I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - KCNA10 Arg96Gly R96G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KCNAB1 Ala29Pro A29P not reviewed Insufficiently evaluated not reviewed unknown Array rs72558048 140 10758 0.0130136 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - KCNAB1 Ser64Phe S64F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KCNAB3 Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.501 - - 0 - 1 N - - KCNB1 Phe368Leu F368L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KCNC1 Ile265Thr I265T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNC2 Leu552Pro L552P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 7 Y 1 N - - KCND1 Arg553His R553H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - KCND2 Lys138Glu K138E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 0 - 0 N - - KCND2 Phe230Leu F230L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - KCND2 Pro378Ser P378S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - KCND3 Asp580Gly D580G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KCND3 Asp599Gly D599G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - KCND3 Ile297Thr I297T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - KCNE2 Glu104Gly E104G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.914 Y Y 6 Y 4 N - - KCNG3 Val384Ala V384A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - 2 - 0 N - - KCNG3 Val395Ala V395A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - KCNG4 Ser460Cys S460C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - KCNH1 Ala915Ser A915S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNH1 Ala942Ser A942S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNH4 Arg586Cys R586C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 8 Y 2 N - - KCNH5 Lys824Glu K824E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNH5 Phe390Leu F390L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNH5 Phe448Leu F448L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - KCNH5 Ala335Asp A335D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - KCNH5 Ala393Asp A393D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.227 - - 5 Y 1 N - - KCNH5 Phe134Ser F134S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - KCNH5 Phe76Ser F76S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - KCNH6 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 6 Y 0 N - - KCNH6 Arg382Trp R382W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KCNH7 Ile792Val I792V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNH8 Ile305Val I305V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - -4 - 0 N - - KCNH8 Leu395Pro L395P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.755 - - 7 Y 1 N - - KCNJ1 Thr11Met T11M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - KCNJ12 Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - KCNJ12 Ala230Thr A230T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 1 - 2 N - - KCNJ15 Ile6Val I6V not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KCNJ15 Glu244Gly E244G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 2 N - - KCNJ15 Leu351Phe L351F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - KCNJ16 Thr394Ala T394A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - KCNJ2 Asn410Tyr N410Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.08 Y Y 5 Y 2 N - - KCNJ5 Ser418Leu S418L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNJ8 Asn418Ser N418S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNK13 Ile219Phe I219F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - KCNK13 Gly389Glu G389E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 6 Y 1 - 4 - - KCNK15 Leu147Pro L147P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 7 Y 1 N - - KCNK16 Leu49Met L49M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - KCNK17 Val222Met V222M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 0 - 2 N - - KCNK2 Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNK2 Ile117Val I117V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNK2 Ile121Val I121V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNK2 Gln180Arg Q180R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNK2 Gln191Arg Q191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNK2 Gln195Arg Q195R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 0 - 1 N - - KCNK5 Ser399Arg S399R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - KCNK7 Arg9Leu R9L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 3 - 1 - - KCNK9 Glu252Val E252V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 5 Y 0 N - - KCNMB3 Asp22Gly D22G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 5 - - KCNMB3 Asp40Gly D40G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 5 - - KCNMB3 Asp42Gly D42G not reviewed Insufficiently evaluated not reviewed unknown Array 1014 10758 0.0942554 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 5 - - KCNMB3 Asp44Gly D44G not reviewed Insufficiently evaluated not reviewed unknown Array rs1170672 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.707 - - 4 Y 1 - 5 - - KCNMB3 Ala15Val A15V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNN4 Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - KCNQ3 His715Arg H715R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 1 - 1 N - - KCNQ5 Asn724His N724H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNQ5 Asn825His N825H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNQ5 Asn834His N834H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 1 N - - KCNQ5 Asn844His N844H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNQ5 Asn853His N853H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNRG Met161Ile M161I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 0 N - - KCNS1 Gln524Pro Q524P not reviewed Insufficiently evaluated not reviewed unknown Array rs61731056 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.658 - - 4 Y 1 N - - KCNS1 Gln508Arg Q508R not reviewed Insufficiently evaluated not reviewed unknown Array rs7264544 210 10758 0.0195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - KCNT1 His247Arg H247R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNT1 Ser605Arg S605R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KCNT2 Gln398His Q398H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - KCNU1 Ala25Val A25V not reviewed Insufficiently evaluated not reviewed unknown Array 18 9968 0.00180578 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNV2 Ala419Thr A419T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNV2 Leu539Pro L539P not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCP Gly1255Val G1255V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCP Ala854Ser A854S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCP Arg469Gly R469G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCP Arg527Gly R527G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCP Ala433Thr A433T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCP Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCTD1 Thr242Met T242M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCTD1 Thr850Met T850M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCTD1 Pro607Leu P607L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCTD16 Ser379Gly S379G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCTD18 Asp171Ala D171A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - KCTD19 Lys529Glu K529E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - KCTD3 Phe204Ser F204S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 5 Y 2 N - - KCTD3 Val449Ala V449A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - KDELR3 Ile23Val I23V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - -4 - 1 - 1 - - KDM3A Ser1314Asn S1314N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM4A Thr660Ala T660A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KDM4B Ala437Thr A437T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KDM4C Pro478Ser P478S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM4C Pro500Ser P500S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM4C Ser534Cys S534C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM4C Ser556Cys S556C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM4C Glu709Asp E709D not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - KDM4C Glu731Asp E731D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KDM4C Glu989Gly E989G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 6 Y 2 N - - KDM4D Ala105Thr A105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 0 N - - KDM4D Gln116Arg Q116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM4D Ala371Val A371V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KDM5B Pro686Leu P686L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KDM5C Gln1424Stop Q1424X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - KDM5C Lys121Asn K121N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - KDM5C Lys188Asn K188N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.079 Y - 1 - 1 N - - KDM6A Ser769Pro S769P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM6A Thr833Ala T833A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KDM6B Ser444Cys S444C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM6B Pro625Gln P625Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.824 - - 4 Y 1 N - - KDR Glu372Asp E372D not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - -2 - 1 - 1 - - KEAP1 Thr543Met T543M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - KEAP1 Asp58Gly D58G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - KEL Met479Val M479V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - KHDRBS2 Ser327Pro S327P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KHDRBS2 Thr296Ala T296A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIAA0020 His497Gln H497Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - KIAA0020 Asn89Ser N89S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9648 0.000518242 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0100 Asp436Asn D436N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - KIAA0141 Gly60Asp G60D not reviewed Insufficiently evaluated not reviewed unknown Array rs34438707 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - KIAA0141 Glu159Gln E159Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.812 - - -2 - 1 N - - KIAA0174 Gln87His Q87H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - KIAA0174 Met236Ile M236I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - KIAA0182 Arg119Gln R119Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0182 Arg223Gln R223Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0195 His652Tyr H652Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - KIAA0196 Val718Ala V718A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 2 - 4 N - - KIAA0226 Arg29Gln R29Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0226 Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 79 10124 0.00780324 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KIAA0240 Asn203Ser N203S not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - KIAA0240 Ala695Val A695V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - 2 - 1 N - - KIAA0284 Val1083Met V1083M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0284 Val1153Met V1153M not reviewed Insufficiently evaluated not reviewed unknown Array 4 9734 0.00041093 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - KIAA0317 Ile514Val I514V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9764 0.000204834 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - KIAA0319 Arg722Trp R722W not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0319 Ile478Leu I478L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0319 Leu218Val L218V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - KIAA0319L Thr434Ile T434I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - KIAA0319L Gly243Asp G243D not reviewed Insufficiently evaluated not reviewed unknown Array rs1635712 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - KIAA0368 Ile1072Val I1072V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740229 66 9676 0.006821 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0391 Leu20Ile L20I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0406 Phe930Ile F930I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0408 Pro544Gln P544Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - KIAA0415 Leu439Val L439V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - KIAA0427 Glu320Gly E320G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 6 Y 1 N - - KIAA0467 Ile1658Val I1658V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0556 Tyr204Cys Y204C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - KIAA0556 Gln552Arg Q552R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - KIAA0556 Gly679Ser G679S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0556 Ala1308Thr A1308T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - KIAA0556 Arg1324Cys R1324C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KIAA0556 Glu1575Lys E1575K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - KIAA0562 Glu857Lys E857K not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - KIAA0562 Arg280Leu R280L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KIAA0562 Arg252Lys R252K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - KIAA0564 Ile468Met I468M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0564 Phe421Leu F421L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0564 Ile159Thr I159T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0586 Leu759Val L759V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0649 Pro461Leu P461L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729479 224 10758 0.0208217 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - KIAA0649 Pro938Leu P938L not reviewed Insufficiently evaluated not reviewed unknown Array 75 9896 0.00757882 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 7 Y 2 N - - KIAA0652 Met359Thr M359T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0652 Met396Thr M396T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0652 Lys461Glu K461E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0652 Lys498Glu K498E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0746 Ile554Val I554V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0746 Ala429Val A429V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0746 Phe267Leu F267L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0746 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIAA0748 Gln331Arg Q331R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733026 160 9934 0.0161063 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - KIAA0748 Ala3Val A3V not reviewed Insufficiently evaluated not reviewed unknown Array 309 9798 0.031537 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - KIAA0753 Pro893Arg P893R not reviewed Insufficiently evaluated not reviewed unknown Array 11 9686 0.00113566 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.768 - - 5 Y 1 N - - KIAA0754 Pro877His P877H not reviewed Insufficiently evaluated not reviewed unknown Array rs74066781 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0754 Ile960Val I960V not reviewed Insufficiently evaluated not reviewed unknown Array rs1746842 576 10198 0.0564817 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA0774 Ser38Asn S38N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0774 Pro364Leu P364L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0802 Arg25His R25H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - KIAA0802 Ser883Phe S883F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0802 Tyr1118Phe Y1118F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0802 Thr1485Ile T1485I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0895 Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9866 0.000101358 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0895 Arg99His R99H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0922 Thr666Met T666M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0922 Thr667Met T667M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0922 Lys1076Thr K1076T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - KIAA0922 Lys1077Thr K1077T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0922 Phe1480Leu F1480L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIAA0922 Phe1481Leu F1481L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0947 Thr1231Asn T1231N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 1 - 1 N - - KIAA1009 Lys1194Arg K1194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -3 - 0 N - - KIAA1009 Arg988Cys R988C not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KIAA1012 Val984Ile V984I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1012 Asn729Ser N729S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1012 Gln708Glu Q708E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1024 Glu350Asp E350D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1024 Arg581Trp R581W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - KIAA1026 Ala677Ser A677S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1033 Asn720Ser N720S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KIAA1033 Ala1096Thr A1096T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1107 Val432Ile V432I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1109 Ile1513Thr I1513T not reviewed Insufficiently evaluated not reviewed unknown Array 22 9726 0.00226198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1161 Glu688Gly E688G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1191 Ala13Ser A13S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1191 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KIAA1199 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1210 Thr740Ile T740I not reviewed Insufficiently evaluated not reviewed unknown Array 3 7860 0.000381679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1210 Leu419Phe L419F not reviewed Insufficiently evaluated not reviewed unknown Array rs35613130 449 7777 0.0577343 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1211 Lys45Glu K45E not reviewed Insufficiently evaluated not reviewed unknown Array 87 10110 0.00860534 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1211 Glu357Asp E357D not reviewed Insufficiently evaluated not reviewed unknown Array 125 9656 0.0129453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1217 Ala448Thr A448T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1217 Ala528Thr A528T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735604 316 10754 0.0293844 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KIAA1244 Leu229Pro L229P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - KIAA1244 Thr491Met T491M not reviewed Insufficiently evaluated not reviewed unknown Array rs34767816 107 10756 0.00994794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.517 - - 2 - 2 - 1 - - KIAA1267 Phe917Leu F917L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 3 - 1 - - KIAA1267 Asp914Glu D914E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 3 - 1 - - KIAA1274 Ala851Val A851V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744349 187 10752 0.0173921 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 2 - 0 N - - KIAA1279 Thr184Ala T184A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - KIAA1279 Gly334Ala G334A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.685 - - 1 - 1 N - - KIAA1305 Arg1542Lys R1542K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1310 Val594Ile V594I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - KIAA1310 Val681Ile V681I not reviewed Insufficiently evaluated not reviewed unknown Array rs34406082 188 10134 0.0185514 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - KIAA1324 Asp144Glu D144E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1324 Glu192Gly E192G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - KIAA1324 Ile913Val I913V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - KIAA1324L Val513Ala V513A not reviewed Insufficiently evaluated not reviewed unknown Array rs34321015 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1324L Val753Ala V753A not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - KIAA1383 Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9852 0.000203004 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1407 Glu888Lys E888K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - KIAA1407 Gln735His Q735H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - KIAA1407 Glu209Gly E209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.735 - - 6 Y 1 N - - KIAA1409 Asn221His N221H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1409 Ser1709Pro S1709P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1429 Asn1145Ile N1145I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1429 Met611Val M611V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - KIAA1429 Ser579Pro S579P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1429 Ser427Cys S427C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - KIAA1432 Lys649Arg K649R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1432 Leu766Ser L766S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1432 Pro1293Leu P1293L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1522 Arg294Gly R294G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1524 Ser572Ala S572A not reviewed Insufficiently evaluated not reviewed unknown Array rs34172460 552 10758 0.0513107 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - KIAA1524 Arg530Gly R530G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - KIAA1524 Phe45Leu F45L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.391 - - 0 - 1 N - - KIAA1529 His862Pro H862P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1529 Arg1342His R1342H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1529 Ser1557Gly S1557G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1530 Lys130Arg K130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1530 Arg337Trp R337W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1539 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735988 146 10738 0.0135966 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1549 Arg187Leu R187L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10342 0.00251402 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1586 Asp265Gly D265G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - KIAA1586 Ile431Met I431M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.451 - - -1 - 1 N - - KIAA1586 Asn677Ser N677S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.652 - - 0 - 1 N - - KIAA1609 Arg444Cys R444C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - KIAA1614 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array 8 9800 0.000816326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - KIAA1614 Ala636Val A636V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10486 0.00848751 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - KIAA1618 Glu35Lys E35K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1618 Glu168Lys E168K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1618 Lys297Arg K297R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1632 Ala1952Thr A1952T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - KIAA1671 Ser142Asn S142N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1671 Gln909His Q909H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - KIAA1671 Arg1592Lys R1592K not reviewed Insufficiently evaluated not reviewed unknown Array 172 3234 0.0531849 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 1 N - - KIAA1680 His426Arg H426R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 Ala1041Thr A1041T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 Ala1228Thr A1228T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10682 0.000655307 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 Ala995Thr A995T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 His1000Gln H1000Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1683 His1187Gln H1187Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10576 0.000850983 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1683 His954Gln H954Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1683 Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1688 Tyr1021Stop Y1021X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA1731 Arg212Cys R212C not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 8 Y 0 N - - KIAA1731 Pro1688Leu P1688L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - KIAA1737 Thr203Ala T203A not reviewed Insufficiently evaluated not reviewed unknown Array rs759593 521 10758 0.0484291 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - KIAA1751 Arg490His R490H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10220 0.00401174 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.1 - - 1 - 0 N - - KIAA1755 Thr1173Ser T1173S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - KIAA1755 Gly646Ser G646S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - KIAA1755 Cys383Ser C383S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - KIAA1772 Gln1786Leu Q1786L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1797 Gly465Arg G465R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - KIAA1804 Pro899Leu P899L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1841 Arg318Gln R318Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - KIAA1841 Met702Thr M702T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1853 Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1853 Cys368Tyr C368Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1881 Ser1069Arg S1069R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1881 Asn728Lys N728K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Met404Val M404V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1881 Val124Gly V124G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - KIAA1881 Gln72Glu Q72E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1949 Lys240Arg K240R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - -3 - 2 N - - KIAA1984 Asp174Asn D174N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KIAA2026 Leu1407Pro L1407P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.058 - - 7 Y 0 N - - KIAA2026 Thr519Pro T519P not reviewed Insufficiently evaluated not reviewed unknown Array 74 9562 0.00773897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 4 Y 0 N - - KIAA2026 His94Tyr H94Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - -1 - 1 N - - KIDINS220 Asp30Val D30V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9552 0.00031407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 8 Y 1 N - - KIF11 His526Gln H526Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -1 - 1 N - - KIF12 Arg330Cys R330C not reviewed Insufficiently evaluated not reviewed unknown Array 98 10622 0.00922613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIF13A Glu1098Gln E1098Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIF13A Glu1111Gln E1111Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - KIF13B Val835Met V835M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10692 9.3527e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - 0 - 0 N - - KIF14 Lys314Arg K314R not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.603 - - -3 - 1 N - - KIF14 Thr283Ala T283A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - KIF15 Glu531Gly E531G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - KIF15 Val673Ala V673A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 2 - 0 N - - KIF16B Lys999Arg K999R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.283 - - -3 - 1 N - - KIF16B Val158Ala V158A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - KIF16B Ile133Val I133V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - -4 - 2 N - - KIF18A Ala27Glu A27E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - KIF18A His10Tyr H10Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - KIF18B Arg789His R789H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF18B Gly571Arg G571R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.588 - - 6 Y 1 N - - KIF19 Leu550Pro L550P not reviewed Insufficiently evaluated not reviewed unknown Array 4 4936 0.000810372 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - KIF19 Arg891Trp R891W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746578 114 9972 0.011432 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIF1A Ala1550Pro A1550P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF1B Ile536Thr I536T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - KIF20A Leu331Val L331V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - KIF20B Gly308Asp G308D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - KIF21A Lys741Arg K741R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - KIF21A Leu548Phe L548F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.593 Y Y 0 - 3 N - - KIF21A Ala139Ser A139S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - KIF24 Glu1177Asp E1177D not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.655 - - -2 - 1 N - - KIF24 Leu807Pro L807P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF24 Arg51Cys R51C not reviewed Insufficiently evaluated not reviewed unknown Array 71 9692 0.00732563 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 1 - - KIF25 Asp129Gly D129G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - KIF25 Val204Ala V204A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.381 - - 2 - 1 N - - KIF25 Gly278Val G278V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIF25 Gly330Val G330V not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KIF26A Ala1360Asp A1360D not reviewed Insufficiently evaluated not reviewed unknown Array 135 8016 0.0168413 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.11 - - 5 Y 0 N - - KIF26A Arg1792Gln R1792Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - KIF26B Pro1410Ala P1410A not reviewed Insufficiently evaluated not reviewed unknown Array 41 9686 0.00423291 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KIF27 Val1054Ile V1054I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIF27 Lys1027Arg K1027R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIF27 Thr316Ala T316A not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF2A Arg402Trp R402W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - KIF2A Ala487Thr A487T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - KIF2A Ala644Thr A644T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF2A Ala682Thr A682T not reviewed Insufficiently evaluated not reviewed unknown Array rs61748225 180 10758 0.0167317 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF2B Ala420Asp A420D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - KIF2B Leu620Met L620M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 1 - 1 - - KIF2C Arg94Gly R94G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 6 Y 2 N - - KIF2C Arg698Gln R698Q not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 1 - - KIF3A His49Arg H49R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF3B Val14Ala V14A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - KIF3B Tyr655Stop Y655X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIF3C Arg286Ser R286S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KIF3C His208Arg H208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 1 - 0 N - - KIF4A Gln1084Arg Q1084R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - KIF4B Glu494Gln E494Q not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIF4B Leu623Pro L623P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - KIF5B Gln777Arg Q777R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - KIF5B Leu495Gln L495Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - KIF6 Ser238Pro S238P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - KIF9 Ala457Thr A457T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIFC1 Arg587Trp R587W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIFC3 Ser828Leu S828L not reviewed Insufficiently evaluated not reviewed unknown Array 95 10754 0.00883392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR2DL1 Ile87Val I87V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - KIR2DL1 Phe199Cys F199C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR2DL1 Gly200Ser G200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR2DL1 Pro224Ser P224S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL1 Lys237Glu K237E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DL1 Arg266Cys R266C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIR2DL1 Asp296Gly D296G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - KIR2DL4 Thr129Ile T129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL4 Gln261Glu Q261E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR2DS4 Ile6Val I6V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR2DS4 Val25Ala V25A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR2DS4 Ser148Pro S148P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DS4 Leu179Phe L179F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DS4 Ser192Leu S192L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - KIR2DS4 Thr233Ala T233A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DS4 Leu241Ser L241S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR2DS4 Ser274Gly S274G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIR2DS4 Gln276Arg Q276R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIR2DS4 Ala283Gly A283G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR3DL1 Arg298Cys R298C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIR3DL1 Pro336Arg P336R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - KIR3DL2 Ile70Phe I70F not reviewed Insufficiently evaluated not reviewed unknown Array 17 10070 0.00168818 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 2 - 1 N - - KIR3DL2 Arg166His R166H not reviewed Insufficiently evaluated not reviewed unknown Array rs1048271 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIR3DL2 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIR3DL2 Arg298His R298H not reviewed Insufficiently evaluated not reviewed unknown Array 522 8128 0.0642224 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIR3DL3 Leu189Phe L189F not reviewed Insufficiently evaluated not reviewed unknown Array 3 8650 0.00034682 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIR3DL3 Asn290Thr N290T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR3DL3 Val313Ile V313I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIRREL2 Val303Met V303M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - KIRREL2 Val353Met V353M not reviewed Insufficiently evaluated not reviewed unknown Array rs35423326 321 10744 0.0298771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.873 - - 0 - 3 - 3 - - KIT Asn410His N410H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.794 Y - 0 - 3 - 8 - - KIT Met614Thr M614T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 3 - - KIT Met618Thr M618T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.586 Y - 2 - 2 N - - KL Pro514Ser P514S not reviewed Insufficiently evaluated not reviewed unknown Array rs3752472 44 10758 0.00408998 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 1 - 6 - - KLC1 Val542Leu V542L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KLC4 His59Arg H59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.166 - - 1 - 0 N - - KLC4 His77Arg H77R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743333 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLC4 Gly556Arg G556R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - KLC4 Gly574Arg G574R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLF1 Arg137Cys R137C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - KLF1 Met39Leu M39L not reviewed Insufficiently evaluated not reviewed unknown Array 226 10742 0.0210389 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - KLF10 Glu404Gly E404G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLF10 Glu415Gly E415G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - KLF10 Gln157Stop Q157X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KLF10 Gln168Stop Q168X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KLF11 Gln62Leu Q62L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 3 - 9 - - KLF12 Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - KLF14 Ala173Pro A173P not reviewed Insufficiently evaluated not reviewed unknown Array rs35770036 463 9902 0.0467582 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.275 - - 2 - 1 N - - KLF17 Arg152Ser R152S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - KLF17 Glu380Ala E380A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - 3 - 0 N - - KLF6 Val165Met V165M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731927 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - KLHDC1 Phe116Leu F116L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - KLHDC4 Asp415Glu D415E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10752 0.000558035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - KLHDC4 Ser325Leu S325L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.216 - - 6 Y 1 N - - KLHDC7A Trp188Arg W188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KLHDC7A Ser402Arg S402R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHDC7A Pro469Ala P469A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLHDC7A Cys474Phe C474F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLHDC8A His223Arg H223R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - KLHDC8A Gly181Trp G181W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KLHDC9 Asp142Asn D142N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10728 0.00121178 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - KLHL1 Gly494Asp G494D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - KLHL1 Ala355Ser A355S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - KLHL1 Glu61Asp E61D not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - KLHL11 Trp534Leu W534L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - KLHL15 Lys471Arg K471R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KLHL18 Cys283Tyr C283Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL18 Arg365Gly R365G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL22 Asp467Asn D467N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - KLHL25 Asp125Gly D125G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - KLHL28 Gln116Arg Q116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KLHL30 Ala355Val A355V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10156 0.000492319 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - 2 - 0 N - - KLHL33 Pro141Thr P141T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLHL38 Val267Ile V267I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741356 197 10282 0.0191597 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - KLHL5 Glu372Gly E372G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL5 Glu387Gly E387G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL5 Glu433Gly E433G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.824 - - 6 Y 1 N - - KLHL6 Ile518Val I518V not reviewed Insufficiently evaluated not reviewed unknown Array rs35354575 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - -4 - 3 N - - KLHL7 Lys18Arg K18R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 3 - 2 - - KLHL7 Glu485Gly E485G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - KLHL7 Glu507Gly E507G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.825 Y - 6 Y 2 N - - KLHL8 Ala538Val A538V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 1 - 1 - - KLHL9 Lys398Thr K398T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 1 N - - KLHL9 Val344Ala V344A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 2 - 2 N - - KLK11 Ser118Thr S118T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLK11 Ser150Thr S150T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLK11 Lys11Asn K11N not reviewed Insufficiently evaluated not reviewed unknown Array rs61752567 854 10758 0.0793828 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.264 - - 1 - 0 N - - KLK13 Glu111Gln E111Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLK14 Ser154Ile S154I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KLK14 Arg109Cys R109C not reviewed Insufficiently evaluated not reviewed unknown Array 72 10312 0.00698216 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KLK14 Lys95Glu K95E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLK3 Pro4Leu P4L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - KLK4 Gly159Asp G159D not reviewed Insufficiently evaluated not reviewed unknown Array rs34626614 217 10758 0.020171 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLK4 Ile16Thr I16T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLK6 Asp148Gly D148G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.207 - - 4 Y 1 N - - KLK6 Asp41Gly D41G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLK6 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KLK7 Thr242Ile T242I not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - KLK7 Thr153Met T153M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - KLK8 Ser201Gly S201G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - KLK8 Ser246Gly S246G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLK8 Ser60Gly S60G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLK8 Ala36Val A36V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLK8 Ser27Cys S27C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLK8 Arg7Pro R7P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.608 - - 5 Y 2 - 2 - - KLKB1 Ser269Pro S269P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLKB1 Thr270Ala T270A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLKB1 Phe311Val F311V not reviewed Insufficiently evaluated not reviewed unknown Array rs4253377 168 10756 0.0156192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - KLKB1 Ser381Ala S381A not reviewed Insufficiently evaluated not reviewed unknown Array rs4253301 1062 10758 0.0987172 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLRC4 Asn108Lys N108K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - KLRD1 Ile122Val I122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KLRD1 Ile153Val I153V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10754 0.00260368 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - KMO Val5Ala V5A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - KNDC1 Asp857Glu D857E not reviewed Insufficiently evaluated not reviewed unknown Array 193 10528 0.0183321 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - KNDC1 Ser859Thr S859T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - KNDC1 Asp1295Asn D1295N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - -1 - 2 N - - KNG1 Cys126Arg C126R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KNTC1 Tyr895Phe Y895F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - -4 - 1 N - - KPNA2 Lys388Glu K388E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - KPNA3 Ile196Thr I196T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KPNA5 Cys299Tyr C299Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KPRP Gln14Pro Q14P not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KPRP Gln58Stop Q58X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KPRP His373Gln H373Q not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - KRAS Asp173Glu D173E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - KRBA1 Pro413Leu P413L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10036 0.00308888 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRBA1 Val889Leu V889L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRBA1 Lys901Arg K901R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KRBA2 Gln454Glu Q454E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - KRBA2 Asp344Gly D344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 4 Y 0 N - - KRBA2 Phe280Ser F280S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - KRBA2 Ser68Asn S68N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRBA2 Trp50Stop W50X not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRCC1 Gln87Arg Q87R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 2 N - - KREMEN2 Pro187Arg P187R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10722 0.00111919 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - KRI1 Glu386Lys E386K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - KRI1 Ala6Pro A6P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 2 - 2 - 3 - - KRIT1 Thr227Ile T227I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - KRT10 Ile101Thr I101T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KRT12 Glu148Gly E148G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - KRT16 Thr306Ala T306A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KRT17 Ser4Thr S4T not reviewed Insufficiently evaluated not reviewed unknown Array rs11553458 439 9250 0.0474595 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - KRT20 His208Tyr H208Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - KRT24 Arg366Cys R366C not reviewed Insufficiently evaluated not reviewed unknown Array rs16966138 427 10758 0.0396914 4 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRT26 Thr219Ser T219S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRT28 Glu372Lys E372K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - KRT3 Gly103Ala G103A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT31 Thr374Met T374M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT31 Asn354Ser N354S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT33A Thr218Ala T218A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT34 Ala312Val A312V not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT34 Arg133Trp R133W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT34 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - KRT34 Thr9Ala T9A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 1 - 0 N - - KRT36 Gln438His Q438H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - KRT37 Ser421Phe S421F not reviewed Insufficiently evaluated not reviewed unknown Array rs35371972 241 10758 0.0224019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - KRT39 Ser423Phe S423F not reviewed Insufficiently evaluated not reviewed unknown Array 207 10750 0.0192558 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - KRT39 Cys391Ser C391S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10750 0.00176744 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.524 - - 3 - 1 N - - KRT4 Gly149Trp G149W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - KRT5 Gly543Arg G543R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - KRT5 Gly543Cys G543C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - KRT6C Ile523Val I523V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - KRT7 Met436Ile M436I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.82 - - -1 - 1 N - - KRT7 Arg464His R464H not reviewed Insufficiently evaluated not reviewed unknown Array 194 10706 0.0181207 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT71 Thr459Ser T459S not reviewed Insufficiently evaluated not reviewed unknown Array 81 10590 0.00764873 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRT72 Glu218Lys E218K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - KRT73 Glu365Gly E365G not reviewed Insufficiently evaluated not reviewed unknown Array rs607426 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 1 - 2 - - KRT73 Pro96Leu P96L not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 7 Y 1 - 3 - - KRT74 Arg363Trp R363W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KRT74 Glu328Lys E328K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KRT75 Tyr264Stop Y264X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT76 Tyr576Cys Y576C not reviewed Insufficiently evaluated not reviewed unknown Array rs61737044 213 10756 0.0198029 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - KRT76 Cys505Gly C505G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KRT76 Phe287Ser F287S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - KRT77 Ser264Gly S264G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT77 Gly46Cys G46C not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT79 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - KRT80 Glu165Gly E165G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - KRT81 Cys301Tyr C301Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.8 Y - 6 Y 2 N - - KRT81 Arg221Gly R221G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.881 Y - 6 Y 3 N - - KRT82 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - KRT84 Leu445Gln L445Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 5 Y 2 N - - KRT84 Arg349Gln R349Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KRT85 Asp189Asn D189N not reviewed Insufficiently evaluated not reviewed unknown Array 273 10758 0.0253765 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - KRT86 Arg241Trp R241W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.666 Y - 7 Y 2 N - - KRTAP1-3 Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array rs62622847 1537 10136 0.151638 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KRTAP1-3 Gly21Ser G21S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP1-5 Cys35Tyr C35Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62623375 546 10024 0.0544693 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP10-1 Cys252Tyr C252Y not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - KRTAP10-1 Pro41Ser P41S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - 3 - 1 N - - KRTAP10-11 Ser25Ile S25I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP10-12 Pro146Gln P146Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35076450 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP10-8 Val24Met V24M not reviewed Insufficiently evaluated not reviewed unknown Array 382 10758 0.0355085 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - KRTAP10-9 Trp17Stop W17X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP13-1 Cys6Arg C6R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - 8 Y 2 N - - KRTAP13-1 Cys56Ser C56S not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 3 - 2 N - - KRTAP13-2 Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.112 - - 1 - 0 N - - KRTAP13-2 Arg26Cys R26C not reviewed Insufficiently evaluated not reviewed unknown Array rs16986753 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP13-4 Asn4Tyr N4Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - 5 Y 2 N - - KRTAP13-4 Arg154His R154H not reviewed Insufficiently evaluated not reviewed unknown Array rs999597 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.371 - - 1 - 1 N - - KRTAP19-1 Gly63Arg G63R not reviewed Insufficiently evaluated not reviewed unknown Array rs34407570 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP19-3 Gly52Ser G52S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP19-3 Gly5Cys G5C not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - KRTAP19-5 Arg59His R59H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP19-5 Tyr25Cys Y25C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP21-1 Gly61Asp G61D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP24-1 Gln201Glu Q201E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - KRTAP26-1 Gly121Ser G121S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP26-1 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KRTAP27-1 Leu176Pro L176P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KRTAP27-1 Cys161Tyr C161Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP4-1 Arg119His R119H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10616 0.00631123 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP4-11 Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array 144 3234 0.0445269 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP5-4 Cys60Gly C60G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP6-1 Gly28Glu G28E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP6-2 His42Tyr H42Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRTAP6-2 Arg31Ser R31S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP6-3 Arg97Met R97M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP6-3 Gly99Ser G99S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10754 0.00241771 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP9-8 Cys47Stop C47X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10584 9.4482e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP9-9 Ser146Tyr S146Y not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KTN1 Lys320Arg K320R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - KTN1 Lys525Arg K525R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - KTN1 Gln938Arg Q938R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KTN1 Gln961Arg Q961R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - KY Gln443Pro Q443P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KYNU Leu364Pro L364P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - L1TD1 Glu141Gly E141G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - L2HGDH Ile146Val I146V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.02 Y - -4 - 1 N - - L3MBTL Ala599Val A599V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - L3MBTL Leu722Val L722V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - L3MBTL4 Asp231Gly D231G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 4 Y 1 N - - L3MBTL4 Gln26Arg Q26R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - LACE1 Glu452Gly E452G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - LACTB Ser319Asn S319N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - LAD1 Arg148Gln R148Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAIR1 Arg171Ser R171S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAIR1 Arg188Ser R188S not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 3 - 1 N - - LAIR1 Ser43Asn S43N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - LAMA1 Arg3058Gly R3058G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.795 - - 6 Y 1 N - - LAMA1 Arg2381His R2381H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LAMA1 His2205Arg H2205R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - LAMA1 Glu1134Asp E1134D not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - LAMA1 Leu808Pro L808P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - LAMA1 Val559Ile V559I not reviewed Insufficiently evaluated not reviewed unknown Array rs16951079 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - -4 - 1 - 4 - - LAMA1 Thr434Ala T434A not reviewed Insufficiently evaluated not reviewed unknown Array rs62619829 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - LAMA1 Arg222Gln R222Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.596 - - 0 - 1 N - - LAMA2 Ile119Thr I119T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LAMA2 Ala468Gly A468G not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LAMA2 Thr605Ile T605I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - LAMA2 Ile606Val I606V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - LAMA2 Pro1033Arg P1033R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - LAMA2 Glu1590Gly E1590G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - LAMA2 Leu1651Pro L1651P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LAMA2 Thr2047Ile T2047I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LAMA3 Arg1387Gln R1387Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10094 0.00168417 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMA3 Asp2207Gly D2207G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LAMA3 Asp2263Gly D2263G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LAMA3 Asp598Gly D598G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LAMA3 Asp654Gly D654G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LAMA3 Met2395Leu M2395L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - LAMA3 Met2451Leu M2451L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - LAMA3 Met786Leu M786L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - LAMA3 Met842Leu M842L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - LAMA3 Gly2460Arg G2460R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly2516Arg G2516R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly851Arg G851R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly907Arg G907R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly1260Arg G1260R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly1316Arg G1316R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly2869Arg G2869R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Gly2925Arg G2925R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 His1532Arg H1532R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 His1588Arg H1588R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 His3141Arg H3141R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA3 His3197Arg H3197R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LAMA4 Asn1542Ser N1542S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMA4 Asn1549Ser N1549S not reviewed Insufficiently evaluated not reviewed unknown Array rs12110554 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - LAMA4 Arg1096Cys R1096C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LAMA4 Arg1103Cys R1103C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - LAMA4 Glu930Gly E930G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LAMA4 Glu937Gly E937G not reviewed Insufficiently evaluated not reviewed unknown Array rs35605307 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - LAMA4 Ala276Val A276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - LAMA4 Ala283Val A283V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 3 - - LAMA4 Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array rs11757455 502 10758 0.0466629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 4 - - LAMA5 Asp2372His D2372H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - LAMA5 Ala2183Thr A2183T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10672 0.000843328 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 0 N - - LAMA5 Arg2180Gln R2180Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10672 0.000937031 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - LAMA5 Phe2061Leu F2061L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - LAMA5 Glu1715Gly E1715G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 6 Y 2 N - - LAMA5 Ser1611Asn S1611N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - LAMA5 Glu1178Asp E1178D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - LAMA5 Thr474Met T474M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10562 0.00132551 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - LAMB1 Gly860Arg G860R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 3 - 3 - - LAMB1 Arg668Gln R668Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.635 - - 0 - 2 - 1 - - LAMB1 Thr142Ala T142A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - LAMB2 Ala1765Pro A1765P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 2 - 1 N - - LAMB2 Pro1185Ala P1185A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - LAMB2 Asn102Lys N102K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.672 Y - 1 - 2 N - - LAMB3 Thr908Ile T908I not reviewed Insufficiently evaluated not reviewed unknown Array rs61753424 230 10758 0.0213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - LAMB3 Met695Val M695V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y 0 - 2 N - - LAMB3 Leu6Phe L6F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMB4 Tyr442Stop Y442X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LAMC1 Glu731Lys E731K not reviewed Insufficiently evaluated not reviewed unknown Array rs2230157 351 10758 0.0326269 6 0 7 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 3 - 3 - - LAMC1 Asn837Lys N837K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 3 - 7 - - LAMC1 Tyr854Cys Y854C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 6 Y 2 N - - LAMC2 Pro582Ser P582S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 5 - 1 - - LAMC3 Thr337Met T337M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMC3 Arg996His R996H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10740 0.000837988 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMC3 Ala1244Thr A1244T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMC3 Thr1377Ala T1377A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMP1 Thr125Lys T125K not reviewed Insufficiently evaluated not reviewed unknown Array 13 9816 0.00132437 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAMP1 Leu127Val L127V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9796 0.000306247 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMP1 Thr189Ser T189S not reviewed Insufficiently evaluated not reviewed unknown Array 96 10298 0.0093222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LAMP2 Thr258Ile T258I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LAMP3 Met397Ile M397I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.109 - - -1 - 0 N - - LAMP3 Gln219Arg Q219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.381 - - 0 - 1 N - - LANCL1 Met229Ile M229I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - LANCL2 Gly48Ser G48S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - LAPTM5 Thr249Ala T249A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - LAPTM5 Arg226Thr R226T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 1 - 3 - - LARGE Trp653Arg W653R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - LARP1 Gly1045Val G1045V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - LARP1 Gly968Val G968V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LARP2 Lys75Glu K75E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LARP2 Cys401Ser C401S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LARP2 Ser579Leu S579L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LARP5 Ser720Leu S720L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LARS Ile972Val I972V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LARS Ala860Pro A860P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - LARS Leu547Ser L547S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 6 Y 2 N - - LARS2 Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LAS1L Ser37Trp S37W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LASS1 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LASS1 Tyr164Stop Y164X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LASS4 Trp167Arg W167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LASS4 Arg379Pro R379P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 3 - - LASS5 Lys101Met K101M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 4 Y 2 N - - LATS1 Gln675His Q675H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - -1 - 0 N - - LATS1 Ala226Gly A226G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LATS2 Glu1016Lys E1016K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - LATS2 Ile772Val I772V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LATS2 Gly363Arg G363R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 6 - - LATS2 Gly363Cys G363C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 6 - - LBA1 Ile1547Val I1547V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LBH Asn24Ser N24S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - LBP Glu271Gly E271G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - LCA5 Asn568Lys N568K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.922 Y Y 1 - 4 N - - LCA5 Ser243Leu S243L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.961 Y Y 6 Y 4 N - - LCA5 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35338066 239 10752 0.0222284 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.754 Y Y 0 - 3 N - - LCA5L Leu567Pro L567P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCE2A Pro13Leu P13L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCE2B Pro25Ser P25S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730791 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LCE2D Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LCE5A Ser77Pro S77P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LCK Pro9Gln P9Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 1 - 10 - - LCK Thr104Ile T104I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - LCMT2 Cys478Trp C478W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - LCMT2 Val352Phe V352F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - LCN1 Phe46Leu F46L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10648 0.00403832 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LCN15 Ser118Cys S118C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 1 N - - LCN6 Leu12Phe L12F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 1 N - - LCN9 His65Tyr H65Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 1 - 4 - - LCP1 Pro544Ser P544S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - LCP1 Asp137Gly D137G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - LCT Val440Ile V440I not reviewed Insufficiently evaluated not reviewed unknown Array rs35940156 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - LCT Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array rs35837297 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LCTL Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LDB3 Thr328Ala T328A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LDB3 Thr438Ala T438A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.458 Y Y 1 - 3 N - - LDB3 Val426Ile V426I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - LDB3 Val536Ile V536I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y -4 - 2 N - - LDHAL6B Lys204Arg K204R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LDHAL6B Val253Met V253M not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - LDHAL6B Asp262Glu D262E not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LDHB Val199Met V199M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 0 - 3 N - - LDHC Glu285Gln E285Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230150 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.884 Y - -2 - 3 N - - LDLR Ala771Val A771V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LDLRAD1 Ala37Asp A37D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - LDOC1L Glu201Asp E201D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - LEF1 Gly202Ala G202A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 3 - 1 - - LEFTY2 Val360Met V360M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.161 - - 0 - 0 N - - LEMD2 Lys156Glu K156E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LEMD2 Lys458Glu K458E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - LEMD2 Lys30Arg K30R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LEMD2 Lys332Arg K332R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - -3 - 2 N - - LEMD2 Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LEMD2 Ala318Thr A318T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LEMD3 Asp588Gly D588G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 2 N - - LENG1 Arg158Trp R158W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - LENG8 Gly112Asp G112D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LENG8 Glu255Gly E255G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LENG8 Pro379Leu P379L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LENG8 Gly402Asp G402D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LENG8 Ala486Val A486V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LENG9 Gly231Glu G231E not reviewed Insufficiently evaluated not reviewed unknown Array 26 10300 0.00252427 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - LEO1 Ser444Pro S444P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - LEO1 Asp230Glu D230E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - -2 - 1 N - - LEP Lys36Arg K36R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.355 Y - -3 - 3 - 3 - - LEPR Val168Ala V168A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - LEPRE1 Asp441Val D441V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.09 Y - 8 Y 1 N - - LEPROTL1 Met94Ile M94I not reviewed Insufficiently evaluated not reviewed unknown Array 46 3234 0.0142239 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LEPROTL1 Val139Met V139M not reviewed Insufficiently evaluated not reviewed unknown Array 44 3234 0.0136054 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LETM1 Glu665Asp E665D not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - -2 - 0 N - - LETM2 Glu320Gln E320Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LETM2 Glu326Gly E326G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LETM2 Glu329Gly E329G not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LGALS1 Cys3Ser C3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.819 - - 3 - 1 N - - LGALS1 Arg49His R49H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LGALS1 Arg74Trp R74W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LGALS14 Arg108Pro R108P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LGALS14 Arg137Pro R137P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LGALS3BP Trp414Arg W414R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - LGALS3BP Gln162Lys Q162K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - LGALS8 Asp190Gly D190G not reviewed Insufficiently evaluated not reviewed unknown Array rs35968435 339 10758 0.0315114 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LGALS9 Pro64Thr P64T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - LGI3 Arg433His R433H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.791 - - 1 - 1 N - - LGI3 Val345Met V345M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - 0 - 1 N - - LGI4 Thr62Met T62M not reviewed Insufficiently evaluated not reviewed unknown Array rs35849647 405 10722 0.0377728 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LGMN Ile20Thr I20T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGR4 Ser644Arg S644R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGR4 Asn584Ser N584S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGR5 Phe482Leu F482L not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - LGR5 His846Tyr H846Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.22 - - -1 - 1 N - - LGR6 Arg198His R198H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LGR6 Arg285His R285H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LGR6 Arg337His R337H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - LGR6 Gly816Ser G816S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR6 Gly903Ser G903S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGR6 Gly955Ser G955S not reviewed Insufficiently evaluated not reviewed unknown Array rs55936200 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGSN Asp207Val D207V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LGSN Thr165Ile T165I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGSN Gly46Glu G46E not reviewed Insufficiently evaluated not reviewed unknown Array rs35691434 430 10758 0.0399703 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LGSN Asn26Tyr N26Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2459568 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - LGTN Glu563Asp E563D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - LHB Ile35Thr I35T not reviewed Insufficiently evaluated not reviewed unknown Array rs34349826 256 10758 0.0237962 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - LHB His30Arg H30R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - LHFPL1 Leu137Ser L137S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 2 N - - LHFPL1 Phe34Leu F34L not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - LHFPL2 Ala203Thr A203T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - LHX1 Glu211Gly E211G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - LHX9 Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LHX9 Ala48Thr A48T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIFR Val810Ala V810A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.086 Y - 2 - 2 - 1 - - LIFR Thr646Asn T646N not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.131 Y - 1 - 1 N - - LIFR Tyr432His Y432H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 1 - - LIFR Ser181Gly S181G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 1 N - - LIFR Met20Ile M20I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y - -1 - 4 - 4 - - LIG1 Thr614Ile T614I not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.672 - - 3 - 2 - 7 - - LIG1 Lys487Arg K487R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LIG1 Ser318Phe S318F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 5 Y 3 - 2 - - LIG1 Tyr289Phe Y289F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - LIG1 Ser51Cys S51C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - LIG1 Ala24Val A24V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LIG3 Gly190Cys G190C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LIG4 Val14Ile V14I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10690 9.3545e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.246 - - -4 - 1 N - - LILRA1 Arg263Cys R263C not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - LILRA1 Gln279Glu Q279E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - LILRA2 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA2 Leu301Phe L301F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - LILRA3 Gln166Arg Q166R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA3 Thr142Ala T142A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA4 His173Arg H173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB1 Arg175His R175H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB1 Arg396Lys R396K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - LILRB1 Leu459Val L459V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 1 N - - LILRB1 Leu460Val L460V not reviewed Insufficiently evaluated not reviewed unknown Array rs1138737 886 10756 0.0823726 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LILRB1 Ile470Val I470V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LILRB1 Ile471Val I471V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061683 989 10758 0.0919316 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LILRB2 Thr560Ile T560I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB2 Thr561Ile T561I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.328 - - 3 - 1 N - - LILRB2 Arg485Gln R485Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB2 Arg486Gln R486Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - LILRB2 Thr324Arg T324R not reviewed Insufficiently evaluated not reviewed unknown Array rs7247055 260 10716 0.0242628 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB2 Cys306Trp C306W not reviewed Insufficiently evaluated not reviewed unknown Array rs7247451 4307 10614 0.405785 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LILRB4 Asn335His N335H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.65 - - 0 - 2 - 3 - - LILRB4 Ala400Pro A400P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB4 Ala401Pro A401P not reviewed Insufficiently evaluated not reviewed unknown Array 236 10750 0.0219535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.366 - - 2 - 1 N - - LILRB5 Ala456Pro A456P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB5 Ala555Pro A555P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - LILRB5 Ala556Pro A556P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB5 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB5 Ala325Thr A325T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - LIMA1 Met459Val M459V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMA1 Met618Val M618V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMA1 Met619Val M619V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMA1 Gly185Arg G185R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - LIMA1 Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LIMCH1 Ser166Pro S166P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIMCH1 Ser320Pro S320P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 2 N - - LIMCH1 Asp391Gly D391G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIMCH1 Asp403Gly D403G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIMCH1 Asp557Gly D557G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 4 Y 1 N - - LIME1 Pro113Leu P113L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10372 0.000192826 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - LIMS2 Arg24Lys R24K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LINGO2 Trp566Arg W566R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LINGO2 Gln418Arg Q418R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 0 - 0 N - - LINS1 Ala331Val A331V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - LINS1 Lys132Asn K132N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LINS1 Ser63Pro S63P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIPC Val449Ile V449I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LIPE Arg333Gln R333Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10744 0.000465376 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - LIPI Thr139Ala T139A not reviewed Insufficiently evaluated not reviewed unknown Array rs17000899 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - LIPM Gln303His Q303H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.296 - - -1 - 1 N - - LIPN Ser37Asn S37N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - LLGL1 Cys697Tyr C697Y not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LLGL1 Leu970Pro L970P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LLGL2 Gly679Arg G679R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - LLGL2 Ala1019Gly A1019G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LLGL2 Gln1005Glu Q1005E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LMAN1 Phe323Ser F323S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 5 Y 3 N - - LMAN1L Thr207Pro T207P not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 4 Y 2 N - - LMBR1L Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - -4 - 1 N - - LMBRD2 Leu40Pro L40P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - LMCD1 Met158Val M158V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - LMF1 Val164Ala V164A not reviewed Insufficiently evaluated not reviewed unknown Array rs35663121 235 10094 0.0232812 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - LMF2 Gln628His Q628H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - LMF2 Val473Ala V473A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMF2 Thr454Lys T454K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - LMF2 Thr454Arg T454R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - LMF2 Arg432Pro R432P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LMF2 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LMLN Gln558Lys Q558K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - -2 - 1 N - - LMLN Gln595Lys Q595K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LMO7 Ser440Pro S440P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - LMO7 Ser489Pro S489P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LMO7 Pro505Ser P505S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LMO7 Pro554Ser P554S not reviewed Insufficiently evaluated not reviewed unknown Array rs41286126 750 10758 0.0697156 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LMO7 Ser823Pro S823P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LMO7 Ser872Pro S872P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LMOD2 Met508Ile M508I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.338 - - -1 - 1 N - - LNPEP Arg35Gln R35Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LNPEP Arg49Gln R49Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 1 - - LNPEP Ser899Thr S899T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 3 - 3 - - LNPEP Ser913Thr S913T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.529 - - -2 - 2 - 3 - - LNX1 Pro10Ser P10S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 1 - 1 - - LNX2 Asp649Gly D649G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - LNX2 Thr32Ala T32A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC100129128 Val71Ala V71A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100129128 Thr42Arg T42R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC100130311 Ser170Pro S170P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC100130958 Leu8Val L8V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100134257 Trp131Stop W131X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC100134257 Leu129Ile L129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC100134257 Ser87Cys S87C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC100134257 Lys75Glu K75E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100170229 Leu702Phe L702F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC136157 Phe105Cys F105C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC145814 Glu185Gln E185Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC145814 Gly153Ala G153A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC153328 Met157Arg M157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC284297 Ile576Val I576V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC284297 Thr699Met T699M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC284297 Leu976Arg L976R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC284297 Leu976Gln L976Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC284297 His1294Tyr H1294Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC285033 Arg8Cys R8C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC342346 Leu769Val L769V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC342346 Ser1061Asn S1061N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC375337 Val702Leu V702L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC375337 Arg1271Gln R1271Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC388931 Pro259Ser P259S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC389151 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC389257 Ile271Thr I271T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC389333 Pro492Arg P492R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC392145 Val31Ile V31I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC392145 Leu109Phe L109F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC392145 Met142Arg M142R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC392145 Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC400831 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC400831 Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC401387 Asp759Glu D759E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC401387 Ser16Asn S16N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC402644 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC440093 Lys122Glu K122E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC440093 Ala111Val A111V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC440563 Pro253Leu P253L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC440563 Phe115Leu F115L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC441476 Asp160His D160H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC553158 Val375Met V375M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC553158 Ala449Val A449V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC553158 Val479Ala V479A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC55908 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC642587 Pro26Leu P26L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC642587 Asp55Tyr D55Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC642587 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC643677 His6419Tyr H6419Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC643677 Val5816Ile V5816I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC643677 Pro4659Ser P4659S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC643677 Glu3228Lys E3228K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC643677 Arg2006Ser R2006S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC643677 Thr742Met T742M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC643923 Ser60Arg S60R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC644974 Asp147Gly D147G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC644974 Asp151His D151H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC644974 Thr152Met T152M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC645545 Ile217Val I217V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC649330 Glu276Gly E276G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC650137 Leu48Arg L48R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC650137 Met218Val M218V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC650293 Asp80Ala D80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC650293 Leu193Gln L193Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC654254 Thr69Ile T69I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC728621 Ile49Met I49M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC728621 Tyr311Cys Y311C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC729085 Pro183Leu P183L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC731220 Arg402Lys R402K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC731220 Pro19Leu P19L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC81691 Glu560Asp E560D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - LOC91431 Leu514Pro L514P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC91431 Gln495Pro Q495P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC91431 Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC91431 Gly198Val G198V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC91431 Tyr32Cys Y32C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LONP1 Arg904His R904H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - LONRF2 Ala585Thr A585T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - LONRF2 Cys258Arg C258R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - LOXHD1 Thr1383Met T1383M not reviewed Insufficiently evaluated not reviewed unknown Array 50 3234 0.0154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - LOXHD1 Thr272Met T272M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - LOXHD1 Thr1299Met T1299M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXHD1 Thr188Met T188M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXHD1 Arg547Cys R547C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOXHD1 Arg153Cys R153C not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOXL4 Pro533Ser P533S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - 3 - 1 N - - LPA Arg1421Gln R1421Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41272112 207 10682 0.0193784 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - LPA Phe1180Leu F1180L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPA Gln1060Lys Q1060K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LPAL2 Thr91Met T91M not reviewed Insufficiently evaluated not reviewed unknown Array rs7749199 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 1 - 3 - - LPAL2 Thr56Met T56M not reviewed Insufficiently evaluated not reviewed unknown Array rs61748891 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 2 N - - LPCAT1 Ser522Leu S522L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - LPCAT1 Val451Ala V451A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 2 - 1 N - - LPCAT1 Met427Lys M427K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 4 Y 3 - 1 - - LPCAT2 Thr148Ala T148A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - LPCAT3 Lys449Glu K449E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - LPGAT1 Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.206 - - 7 Y 1 N - - LPHN2 Ser1107Pro S1107P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LPHN2 Ser1146Gly S1146G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LPHN2 His1181Asn H1181N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - LPIN1 Pro617Ser P617S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LPIN3 Gly647Ser G647S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - LPXN Glu310Gln E310Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - LPXN Glu315Gln E315Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRBA Arg2862His R2862H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRBA Ser2002Trp S2002W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRBA Pro1136Leu P1136L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRCH1 Ser390Arg S390R not reviewed Insufficiently evaluated not reviewed unknown Array rs34554559 119 10758 0.0110615 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRCH3 Ala425Val A425V not reviewed Insufficiently evaluated not reviewed unknown Array 72 10754 0.00669518 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - LRCH3 Thr569Met T569M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRCH3 Arg608His R608H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - LRDD Ser15Phe S15F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - LRDD Ser161Phe S161F not reviewed Insufficiently evaluated not reviewed unknown Array rs61740131 291 10758 0.0270496 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 5 Y 2 - 1 - - LRFN5 Asp117Gly D117G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.183 - - 4 Y 0 N - - LRG1 Glu277Lys E277K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRG1 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 1 - 1 - - LRGUK Arg680Gly R680G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - LRGUK Arg781Trp R781W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - LRIG1 Ser1021Tyr S1021Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 5 Y 0 N - - LRIG1 His606Gln H606Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - -1 - 1 N - - LRIG2 Ile155Leu I155L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRIG3 Ser914Cys S914C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRIG3 Ser974Cys S974C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRIG3 Glu510Gly E510G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRIG3 Glu570Gly E570G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRIG3 Leu481Pro L481P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRIG3 Leu541Pro L541P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - LRIG3 Arg241Gly R241G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRIG3 Arg301Gly R301G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 6 Y 2 N - - LRIT1 Ile537Val I537V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRIT3 Val254Ile V254I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - -4 - 0 N - - LRIT3 Pro259Gln P259Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 4 Y 1 N - - LRIT3 Gly503Arg G503R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP1 Asn1978Lys N1978K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - LRP11 Asp319Asn D319N not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.384 - - -1 - 1 N - - LRP12 Leu837Met L837M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRP12 Leu856Met L856M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.631 - - -3 - 1 N - - LRP12 Cys369Arg C369R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRP12 Cys388Arg C388R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - LRP1B Cys4347Arg C4347R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - LRP1B Gln3140Arg Q3140R not reviewed Insufficiently evaluated not reviewed unknown Array rs34488772 588 10758 0.054657 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRP1B Arg2430Gln R2430Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - LRP1B Arg1488Gly R1488G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LRP2 Asn4603Asp N4603D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - LRP2 Met4384Val M4384V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 0 - 3 N - - LRP2 His3939Arg H3939R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.175 - Y 1 - 1 N - - LRP2 Ser3561Gly S3561G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.016 - Y 2 - 1 N - - LRP2 Asn3376Ser N3376S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y 0 - 3 N - - LRP2 Asn3112Asp N3112D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 - Y -1 - 3 N - - LRP2 Ala2872Pro A2872P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 2 - 1 N - - LRP2 Ala2872Ser A2872S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - LRP2 Asn2343Asp N2343D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.841 - Y -1 - 2 N - - LRP2 Pro2312Gln P2312Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 4 Y 1 N - - LRP2 Arg2181His R2181H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 1 - 3 N - - LRP2 Asp1787Ala D1787A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.966 - Y 5 Y 3 N - - LRP2 Arg1578His R1578H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 1 - 3 N - - LRP2 Cys1428Tyr C1428Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 6 Y 3 N - - LRP2 Tyr658Cys Y658C not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 - Y 6 Y 3 N - - LRP2 Pro635Leu P635L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 - Y 7 Y 3 N - - LRP2 Ser608Gly S608G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.812 - Y 2 - 2 N - - LRP2 Glu530Gly E530G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - LRP2 Leu462Pro L462P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.964 - Y 7 Y 3 N - - LRP2 Asp389Glu D389E not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 - Y -2 - 1 N - - LRP2 Gly223Ala G223A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.016 - Y 1 - 1 N - - LRP2BP Pro289Leu P289L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - LRP3 Ala617Val A617V not reviewed Insufficiently evaluated not reviewed unknown Array 296 8228 0.0359747 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRP3 Glu760Asp E760D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRP4 His631Arg H631R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRP4 Leu314Ser L314S not reviewed Insufficiently evaluated not reviewed unknown Array rs7926667 657 10758 0.0610708 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRP5 Val1399Ile V1399I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.026 Y Y -4 - 2 N - - LRP5 Ser1553Arg S1553R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.059 Y Y 3 - 2 N - - LRP6 Arg1401His R1401H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - LRP8 Pro628Leu P628L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRP8 Pro798Leu P798L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRPAP1 Asp211His D211H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRPPRC Asn1199Asp N1199D not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.129 Y - -1 - 1 N - - LRPPRC Pro1012Ser P1012S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - LRPPRC Ser526Pro S526P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.042 Y - 3 - 1 N - - LRPPRC Arg513Gly R513G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 6 Y 3 N - - LRPPRC Ile204Thr I204T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - LRPPRC Asp183Gly D183G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 4 Y 3 N - - LRRC1 Ser16Ile S16I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737021 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC15 Arg460Stop R460X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRRC15 Arg466Stop R466X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRRC15 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - LRRC15 Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC16B Ala414Val A414V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC16B Asn624Asp N624D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC18 Thr229Met T229M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730452 334 10758 0.0310467 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 1 N - - LRRC18 Leu151Pro L151P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - LRRC19 Glu310Gly E310G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - LRRC2 Cys189Arg C189R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LRRC20 Glu61Gly E61G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - LRRC24 Thr405Met T405M not reviewed Insufficiently evaluated not reviewed unknown Array 160 8462 0.0189081 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - LRRC26 Glu178Gln E178Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LRRC27 Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - LRRC27 Thr284Met T284M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - LRRC27 Ala294Ser A294S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - LRRC27 Arg387Trp R387W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - LRRC27 Val445Ile V445I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRC29 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - LRRC29 Ala84Val A84V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - LRRC31 Ser42Thr S42T not reviewed Insufficiently evaluated not reviewed unknown Array 63 9664 0.00651904 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC32 Gly426Arg G426R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 Y - 6 Y 1 N - - LRRC32 Ala407Pro A407P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 Y - 2 - 1 N - - LRRC33 Gly203Ser G203S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - LRRC33 Ala572Ser A572S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - -1 - 0 N - - LRRC34 Met360Ile M360I not reviewed Insufficiently evaluated not reviewed unknown Array rs9872760 199 10756 0.0185013 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.249 - - -1 - 1 N - - LRRC36 Asn420Asp N420D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC36 Asn541Asp N541D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - LRRC36 Pro445Leu P445L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC36 Pro566Leu P566L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - LRRC42 Arg343Leu R343L not reviewed Insufficiently evaluated not reviewed unknown Array rs35123335 216 10758 0.0200781 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.049 - - 6 Y 0 N - - LRRC48 Arg159Gln R159Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8072048 241 10178 0.0236785 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - LRRC48 Gly260Ser G260S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10464 0.00066896 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC48 Arg496Cys R496C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRRC49 Lys39Glu K39E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - LRRC50 Gln64His Q64H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - LRRC50 Gln260His Q260H not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC50 Gln307Glu Q307E not reviewed Insufficiently evaluated not reviewed unknown Array 311 10758 0.0289087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - LRRC50 Asp387Glu D387E not reviewed Insufficiently evaluated not reviewed unknown Array rs36062234 783 10758 0.072783 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.951 - - -2 - 1 N - - LRRC50 Pro499Leu P499L not reviewed Insufficiently evaluated not reviewed unknown Array 38 10746 0.0035362 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - LRRC50 Asp652His D652H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.485 - - 3 - 1 N - - LRRC50 Leu659Gln L659Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 2 - - LRRC55 Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC55 Leu163Pro L163P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - LRRC56 Ala129Thr A129T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC6 Leu28Ser L28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - LRRC7 Asn139Ser N139S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 2 - 1 - - LRRC7 Met1023Val M1023V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC7 Asn1055Lys N1055K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - LRRC8A Arg533Gly R533G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 6 Y 2 N - - LRRC8B Lys490Arg K490R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRRC8C Thr650Ala T650A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC8D Leu419Pro L419P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 7 Y 2 N - - LRRC8D Cys521Arg C521R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 8 Y 2 N - - LRRC8D Pro553Leu P553L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LRRC8E Ser291Pro S291P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC8E Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.141 - - 0 - 0 N - - LRRC8E Glu401Lys E401K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - LRRC8E Ala416Val A416V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC8E Val433Ile V433I not reviewed Insufficiently evaluated not reviewed unknown Array rs36038711 179 10752 0.0166481 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.183 - - -4 - 1 - 2 - - LRRFIP1 Cys253Tyr C253Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRFIP1 Cys499Tyr C499Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRFIP2 Leu109Phe L109F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP2 Leu341Phe L341F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - LRRFIP2 Gln73Arg Q73R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LRRIQ1 Glu108Gly E108G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRIQ1 Lys248Gln K248Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10662 9.3791e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRIQ1 Glu263Lys E263K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRK1 Ala461Thr A461T not reviewed Insufficiently evaluated not reviewed unknown Array 109 9544 0.0114208 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRK2 Leu208Phe L208F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LRRK2 Glu980Gly E980G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LRRK2 Thr2141Met T2141M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - LRRN1 Asp101Gly D101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - LRRTM3 His557Arg H557R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - LRTM1 Ala164Thr A164T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - LRTM1 Leu65Ile L65I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - LRTM2 Asp134Asn D134N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - LRWD1 Gln268Leu Q268L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - LRWD1 Ala495Ser A495S not reviewed Insufficiently evaluated not reviewed unknown Array 119 10748 0.0110718 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - LSAMP Thr164Ala T164A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.201 - - 1 - 1 N - - LSG1 Ala183Val A183V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 2 - 2 N - - LSM10 Ile100Val I100V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LSM14A Arg171Gly R171G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - LSMD1 Val20Gly V20G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LSR His500Gln H500Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LSR His549Gln H549Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LSR His568Gln H568Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10698 0.000373901 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -1 - 1 N - - LSS His230Pro H230P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - LSS His230Leu H230L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LSS His299Pro H299P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - LSS His299Leu H299L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - LSS His310Pro H310P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - LSS His310Leu H310L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LSS Met135Ile M135I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - LSS Met204Ile M204I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - LSS Met215Ile M215I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - -1 - 2 N - - LST-3TM12 Lys244Glu K244E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LST-3TM12 Gly580Ser G580S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LST1 Trp115Stop W115X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LST1 Trp60Stop W60X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LST1 Trp72Stop W72X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LTA4H Tyr450Stop Y450X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - LTB Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 3 - 0 N - - LTBP1 Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP1 Ile238Thr I238T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LTBP1 Ile564Thr I564T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LTBP1 Val424Ile V424I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LTBP1 Val750Ile V750I not reviewed Insufficiently evaluated not reviewed unknown Array 384 10758 0.0356944 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LTBP1 Gly1032Ser G1032S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Gly706Ser G706S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBR Glu39Gly E39G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - LTF Leu632Met L632M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - -3 - 2 N - - LTF Leu632Val L632V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - LTF Val365Met V365M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.301 - - 0 - 1 N - - LUC7L Phe182Leu F182L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.851 - - 0 - 2 N - - LUZP1 Thr777Met T777M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - LUZP1 Ala527Thr A527T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - LUZP1 Ser192Gly S192G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - LUZP1 Leu172Gln L172Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 5 Y 2 N - - LVRN Phe593Leu F593L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LXN Glu43Lys E43K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 2 - 3 - - LY6E Cys23Trp C23W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 1 - - LY6E Asp104Asn D104N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - -1 - 0 N - - LY6G5B Ser131Tyr S131Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11758242 462 7520 0.0614362 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 0 N - - LY6K Cys121Tyr C121Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - LY75 Val1584Ala V1584A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.857 - - 2 - 2 N - - LY75 Cys1422Arg C1422R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - LY75 Met1308Val M1308V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10740 0.0018622 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - LY75 Asn1281Asp N1281D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 2 N - - LY75 Pro740Ser P740S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LY75 Thr526Ile T526I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 2 N - - LY75 Arg360His R360H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LYG1 Gln172Glu Q172E not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - -2 - 2 N - - LYG1 Leu57Arg L57R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 2 N - - LYL1 Ser126Asn S126N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYN Thr27Pro T27P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 8 - - LYPD4 His203Tyr H203Y not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - -1 - 2 N - - LYPD4 Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - LYPD4 Gln58Pro Q58P not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 4 Y 0 N - - LYPD5 Glu32Gly E32G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.668 - - 6 Y 1 N - - LYPLA1 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - LYRM1 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 1 - 1 - - LYSMD1 Asp104Asn D104N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - LYSMD1 Asp56Asn D56N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LYSMD1 Ser3Arg S3R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LYST Ser2676Ile S2676I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10746 0.00120975 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.044 Y Y 5 Y 2 N - - LYST Asp2271Gly D2271G not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.121 Y Y 4 Y 2 N - - LYST Arg1446Gln R1446Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - LYST Asp645Asn D645N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.73 Y Y -1 - 3 N - - LYST Asp199Glu D199E not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -2 - 3 - 1 - - LYZL6 Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.908 - - 0 - 2 N - - LZTFL1 Asn126His N126H not reviewed Insufficiently evaluated not reviewed unknown Array rs9917821 258 10730 0.0240447 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LZTS1 Asn111Ser N111S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - M6PR His148Arg H148R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.582 - - 1 - 1 N - - M6PRBP1 Met300Ile M300I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - M6PRBP1 Phe221Leu F221L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MACC1 Asp790Asn D790N not reviewed Insufficiently evaluated not reviewed unknown Array 75 10754 0.00697415 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - MACC1 Arg759Gln R759Q not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - MACC1 Lys660Glu K660E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - MACC1 Phe246Leu F246L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.542 - - 0 - 1 N - - MACC1 Pro50Leu P50L not reviewed Insufficiently evaluated not reviewed unknown Array rs17142503 232 10758 0.0215653 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.566 - - 7 Y 2 - 2 - - MACF1 Cys469Tyr C469Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MACF1 Asp271Val D271V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MACF1 Thr991Met T991M not reviewed Insufficiently evaluated not reviewed unknown Array 634 10756 0.0589438 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MACF1 Arg2175Trp R2175W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MACF1 Arg2677Trp R2677W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MACF1 Arg3995His R3995H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Arg4497His R4497H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Arg4768Gly R4768G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MACF1 Arg4768Stop R4768X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MACF1 Arg5270Gly R5270G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MACF1 Arg5270Stop R5270X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MACF1 Ser5011Asn S5011N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Ser5513Asn S5513N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Glu5239Gly E5239G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MACF1 Glu5747Gly E5747G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MACROD1 Glu311Gln E311Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - -2 - 0 N - - MACROD2 Asp16Gly D16G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MACROD2 Asp251Gly D251G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 4 Y 1 N - - MAD1L1 Arg558Pro R558P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.225 - - 5 Y 2 - 7 - - MADCAM1 Thr281Asn T281N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10298 0.00291319 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MADD Ser809Gly S809G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MADD Ser852Gly S852G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.061 Y - 2 - 1 N - - MAEA Ser66Cys S66C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 1 - 2 - - MAG Ile137Val I137V not reviewed Insufficiently evaluated not reviewed unknown Array 140 10748 0.0130257 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y -4 - 1 N - - MAGEA1 Asp53His D53H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - 3 - 1 N - - MAGEA12 Gln194Arg Q194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - MAGEB1 Arg10His R10H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.753 - - 1 - 1 N - - MAGEB3 Leu180Ile L180I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - MAGEB4 Arg267Ser R267S not reviewed Insufficiently evaluated not reviewed unknown Array 152 8759 0.0173536 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - MAGEB6 Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array rs4630029 283 8745 0.0323613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 1 - 2 - 2 - - MAGEB6 Ala100Val A100V not reviewed Insufficiently evaluated not reviewed unknown Array rs4272533 178 8717 0.0204199 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 1 - 2 - - MAGEC3 Asp140Val D140V not reviewed Insufficiently evaluated not reviewed unknown Array rs12852593 5 92 0.0543478 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 - 2 - - MAGED1 Gln115Leu Q115L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - MAGED1 Gln171Leu Q171L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAGEF1 Glu236Gln E236Q not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAGEL2 Leu448Ile L448I not reviewed Insufficiently evaluated not reviewed unknown Array rs2233070 316 10050 0.0314428 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - MAGEL2 Pro275Leu P275L not reviewed Insufficiently evaluated not reviewed unknown Array rs2233067 47 10710 0.00438842 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - MAGEL2 Ser185Cys S185C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10192 0.000588697 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGI1 Asp1168Gly D1168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAGI1 Asp1196Gly D1196G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAGI1 Asp1197Gly D1197G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - MAGI2 Leu578Arg L578R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 2 N - - MAGI3 Pro1240Leu P1240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAK Arg395Leu R395L not reviewed Insufficiently evaluated not reviewed unknown Array rs62000445 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - MAK Arg237Cys R237C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 1 - - MAK Pro225Arg P225R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 3 - 6 - - MAK Ala147Thr A147T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 3 - 1 - - MAK10 Lys477Thr K477T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAK10 Pro650Thr P650T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAL Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 1 - 5 - - MAL Ser45Gly S45G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 9 - - MALL Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - MALT1 Asp73Glu D73E not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - -2 - 1 - 1 - - MAMDC4 His595Tyr H595Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 10718 0.000653106 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAML2 Pro896Thr P896T not reviewed Insufficiently evaluated not reviewed unknown Array rs7123133 818 9776 0.0836743 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.099 - - 4 Y 1 - 3 - - MAML2 Met703Val M703V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - MAML2 Gln616His Q616H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAML2 Pro498Ser P498S not reviewed Insufficiently evaluated not reviewed unknown Array 275 9892 0.0278002 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAML3 Ser863Asn S863N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAMLD1 Gly710Arg G710R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAN1A2 Asn268Asp N268D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - -1 - 1 N - - MAN2A1 Phe841Tyr F841Y not reviewed Insufficiently evaluated not reviewed unknown Array 71 10756 0.00660097 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MAN2A1 Met1013Thr M1013T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 2 - 1 N - - MAN2A1 Pro1027Ser P1027S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10756 0.00641502 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MAN2A2 Ala620Val A620V not reviewed Insufficiently evaluated not reviewed unknown Array 277 10758 0.0257483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MAN2C1 Tyr659Cys Y659C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - MAN2C1 Ser209Cys S209C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MANBA Asn786Asp N786D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.707 Y - -1 - 2 N - - MANBA Thr701Ala T701A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - MANEA Ile181Thr I181T not reviewed Insufficiently evaluated not reviewed unknown Array 19 9792 0.00194036 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - MAP1A Met1103Arg M1103R not reviewed Insufficiently evaluated not reviewed unknown Array 35 9842 0.00355619 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.77 - - 4 Y 1 N - - MAP1B Glu619Gly E619G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP1B Ala796Val A796V not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP1LC3B Glu25Gln E25Q not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP1LC3B Thr118Ala T118A not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 1 - 1 - - MAP1LC3B2 Cys113Tyr C113Y not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP1LC3B2 Thr118Ala T118A not reviewed Insufficiently evaluated not reviewed unknown Array 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - MAP1LC3C Ser138Cys S138C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - MAP1LC3C Val115Met V115M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MAP1S Pro538Gln P538Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7252905 921 10210 0.0902057 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.94 - - 4 Y 1 N - - MAP1S Arg1005His R1005H not reviewed Insufficiently evaluated not reviewed unknown Array 330 10754 0.0306863 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.54 - - 1 - 1 N - - MAP2 Val407Phe V407F not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP2 Glu600Lys E600K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP2 His674Arg H674R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP3K11 Pro687Leu P687L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - MAP3K13 Lys117Asn K117N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 1 - 3 - 2 - - MAP3K13 Ser582Asn S582N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MAP3K13 Glu883Gly E883G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 2 N - - MAP3K13 Leu925Pro L925P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - MAP3K14 Arg293Ser R293S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP3K15 Tyr303His Y303H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP3K4 Phe308Leu F308L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MAP3K4 Lys333Arg K333R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MAP3K4 Trp396Stop W396X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAP3K4 Trp1091Stop W1091X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAP3K5 Thr407Met T407M not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP3K6 Arg1261Ser R1261S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 1 N - - MAP3K7IP1 Leu54Ile L54I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP3K7IP2 Thr292Ala T292A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP4 Ser611Ile S611I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAP4 Ser876Ile S876I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 5 Y 0 N - - MAP4 Thr563Met T563M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP4 Thr828Met T828M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - MAP4 Val628Leu V628L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 3 - 3 - - MAP4 Leu530Pro L530P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP4 Asp174Gly D174G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - MAP6 Val466Leu V466L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7 Thr673Pro T673P not reviewed Insufficiently evaluated not reviewed unknown Array 15 10736 0.00139717 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 4 Y 2 N - - MAP7 Val361Leu V361L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - MAP7D1 Arg110Pro R110P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - MAP7D1 Pro402Ala P402A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - MAP7D1 Arg531Gly R531G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 1 - 3 - - MAP7D1 Gln729Glu Q729E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP7D2 Thr641Ile T641I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - MAP9 Arg535Lys R535K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MAP9 Ser384Cys S384C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - MAP9 Thr241Ala T241A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - MAPK12 Arg189Gln R189Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MAPK13 Gln272Stop Q272X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAPK7 Met218Thr M218T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPK7 Met79Thr M79T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPKBP1 Gly429Ser G429S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPKBP1 Gly435Ser G435S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - 2 - 1 N - - MAPT Gln230Arg Q230R benign Low clinical importance, Uncertain benign unknown Array rs63750072 449 10690 0.0420019 2 0 2 1 1 ! Y - - 5 Y - - - - - - Y - - - 0.895 Y Y 0 - 5 - 1 0 0 Common polymorphism. MARCH10 Met477Val M477V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.773 - - 0 - 1 N - - MARCH10 Ser227Phe S227F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - MARCH10 Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MARCH2 Ala54Pro A54P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - MARCH5 Ala278Thr A278T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - MARCH6 Phe157Val F157V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MARCH7 Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARCH7 Thr211Ala T211A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MARCH7 Ile212Met I212M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - MARCH7 Glu548Gly E548G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - MARCH8 Met43Val M43V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARK2 Ser628Arg S628R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - MARK2 Ser661Arg S661R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 1 - 2 - - MARK2 Ser682Arg S682R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - MARK2 Ser692Arg S692R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 3 - 2 - - MARS Leu744Phe L744F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARVELD2 Asp11Tyr D11Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MARVELD2 Ala72Gly A72G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 1 N - - MARVELD3 Gly233Ser G233S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - MAS1L Arg182Thr R182T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.484 - - 3 - 1 N - - MASP1 His585Asn H585N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MASP2 Cys552Arg C552R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MASP2 Ser13Leu S13L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10188 0.00117786 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAST2 Gly1453Val G1453V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAST4 Ser2024Ala S2024A not reviewed Insufficiently evaluated not reviewed unknown Array 33 9648 0.0034204 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MASTL Ser665Tyr S665Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 5 Y 3 N - - MAT1A Asp354Gly D354G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 4 Y 3 N - - MATK Arg9Stop R9X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MATN4 Leu479Met L479M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MATN4 Leu520Met L520M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MATN4 Leu561Met L561M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.794 - - -3 - 1 N - - MATN4 Met58Val M58V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - MAVS Cys79Ser C79S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 2 - - MBD1 Phe127Leu F127L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MBD2 Ala326Pro A326P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - MBD3L1 Pro44Ser P44S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MBD3L1 Thr163Ala T163A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - MBD3L1 Glu188Gly E188G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10748 0.00483811 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 6 Y 1 N - - MBD5 Ile360Thr I360T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 3 - 1 N - - MBLAC1 Pro244Ala P244A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.12 - - 2 - 0 N - - MBOAT1 Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 0 - 0 N - - MBOAT2 Val233Ile V233I not reviewed Insufficiently evaluated not reviewed unknown Array rs34573615 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - -4 - 0 N - - MBP Tyr203Stop Y203X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 6 - - MBP Tyr70Stop Y70X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 10 - - MBP Tyr96Stop Y96X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 10 - - MBP Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 3 - 4 - - MBTD1 Ile518Thr I518T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.286 - - 3 - 1 N - - MC3R Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MC3R Ile96Val I96V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MCART6 Val126Met V126M not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - MCC His801Arg H801R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - MCC His991Arg H991R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCC Glu328Gly E328G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - MCC Glu518Gly E518G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCC Met152Val M152V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - MCC Met342Val M342V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCCC1 Glu717Lys E717K not reviewed Insufficiently evaluated not reviewed unknown Array rs35706839 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MCCC1 Asn561Ser N561S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 0 - 1 N - - MCCC1 Lys118Arg K118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.793 Y - -3 - 2 N - - MCCD1 Thr53Met T53M not reviewed Insufficiently evaluated not reviewed unknown Array 193 7520 0.0256649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCF2 Cys474Tyr C474Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - MCF2 Cys534Tyr C534Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCF2L Arg411Trp R411W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCF2L Arg464Trp R464W not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCF2L2 Phe589Ser F589S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732602 244 10758 0.0226808 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MCF2L2 Gln130His Q130H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - MCHR1 Asp28Val D28V not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 8 Y 2 N - - MCM10 Thr240Met T240M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MCM10 Thr241Met T241M not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - MCM10 Pro620Leu P620L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCM10 Pro621Leu P621L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - MCM10 Leu859Pro L859P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCM10 Leu860Pro L860P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MCM3AP Val1622Met V1622M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - MCM3AP Leu1616Pro L1616P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - MCM3AP Ser57Gly S57G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCM5 Thr180Ser T180S not reviewed Insufficiently evaluated not reviewed unknown Array rs2307340 700 10758 0.0650679 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 6 - - MCM5 Val258Leu V258L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 0 - 2 - 4 - - MCM6 Thr610Ala T610A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - 1 - 1 N - - MCM7 Arg480Ser R480S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MCM7 Arg656Ser R656S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 1 - - MCM7 Gly27Arg G27R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 1 N - - MCM8 Arg71Gly R71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCM8 Lys101Asn K101N not reviewed Insufficiently evaluated not reviewed unknown Array rs6117014 696 10754 0.0647201 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MCM8 Leu277Phe L277F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 1 - 1 - - MCM8 Asn769Ser N769S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCM8 Asn785Ser N785S not reviewed Insufficiently evaluated not reviewed unknown Array rs16991638 739 10758 0.0686931 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MCOLN1 Ser257Arg S257R not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MCOLN1 Glu349Val E349V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 5 Y 4 N - - MCOLN3 Ser471Ile S471I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - MCOLN3 Gly57Asp G57D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 4 Y 2 N - - MCPH1 Glu581Gly E581G not reviewed Insufficiently evaluated not reviewed unknown Array 2 9678 0.000206654 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.418 - Y 6 Y 2 N - - MCTP1 Gly280Arg G280R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MCTP1 Gly59Arg G59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCTP2 Ala822Thr A822T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCTP2 Ala877Thr A877T not reviewed Insufficiently evaluated not reviewed unknown Array rs34193492 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDC1 Glu1536Val E1536V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - MDC1 Pro1048Ala P1048A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.356 - - 2 - 1 N - - MDC1 Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - MDFI Ser141Arg S141R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 3 - 1 N - - MDFIC His162Leu H162L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MDH1B Ala173Val A173V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MDM1 Lys267Asn K267N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - MDM1 Phe238Leu F238L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MDM4 Ile60Val I60V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - MDM4 Val107Ala V107A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - MDN1 Asn4695Asp N4695D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.926 - - -1 - 2 N - - MDN1 Gly4048Ser G4048S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MDN1 Asp3357Asn D3357N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -1 - 0 N - - MDN1 Leu2697Pro L2697P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - MDN1 Ile2546Thr I2546T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - MDN1 Asp1792His D1792H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - MDN1 Ala1765Glu A1765E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - MDN1 Lys1687Arg K1687R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MDN1 Ala1044Val A1044V not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 1 - - MDN1 Val771Ala V771A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - ME2 Ile323Val I323V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.787 - - -4 - 1 N - - MEA1 Glu35Asp E35D not reviewed Insufficiently evaluated not reviewed unknown Array rs35628750 208 10758 0.0193344 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.807 - - -2 - 1 N - - MED1 Ser1240Gly S1240G not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 2 - 2 - 5 - - MED1 Asn254Ser N254S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - MED12L Glu739Lys E739K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - MED12L Glu739Gly E739G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 6 Y 2 N - - MED12L Cys1096Arg C1096R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - MED12L Thr1667Met T1667M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.808 - - 2 - 1 N - - MED13 Val1641Ile V1641I not reviewed Insufficiently evaluated not reviewed unknown Array 3 9728 0.000308388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MED13L Leu1997Ser L1997S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - MED13L Ala435Thr A435T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MED14 Val1385Ala V1385A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - MED19 Ser182Gly S182G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 2 - 1 N - - MED20 Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - MED22 Asp159His D159H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - MED23 Cys734Ser C734S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - MED23 Cys740Ser C740S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MED23 Val64Ala V64A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 2 N - - MED23 Phe26Leu F26L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - MEF2B Pro267Thr P267T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MEFV Gly111Arg G111R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - MEGF11 Lys1042Arg K1042R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - -3 - 1 N - - MEGF11 Gln472Glu Q472E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 2 N - - MEGF8 Ser186Leu S186L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10060 9.9403e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEGF8 Arg1666Cys R1666C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MEGF8 Ala2487Ser A2487S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MEGF9 Ser104Ala S104A not reviewed Insufficiently evaluated not reviewed unknown Array 532 9590 0.0554745 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 1 - - MEI1 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array rs73424975 182 9866 0.0184472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEIS3 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEIS3 Arg376His R376H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MELK Met243Thr M243T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 1 - - MELK Arg333Lys R333K not reviewed Insufficiently evaluated not reviewed unknown Array rs34655121 393 10758 0.036531 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - MELK Cys649Arg C649R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MEP1B Val326Met V326M not reviewed Insufficiently evaluated not reviewed unknown Array rs9959396 261 9688 0.0269405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - MEPE Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 2 - 2 N - - MEPE Ala327Val A327V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 2 - 2 N - - MERTK Glu540Lys E540K not reviewed Insufficiently evaluated not reviewed unknown Array 78 10756 0.00725177 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.068 Y - 0 - 2 - 2 - - MERTK Gln662Glu Q662E not reviewed Insufficiently evaluated not reviewed unknown Array rs56209758 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.041 Y - -2 - 1 N - - MESDC2 Ser197Arg S197R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 1 - 1 - - METAP2 Ile187Thr I187T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - METRNL Thr112Arg T112R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - METT11D1 Val329Ala V329A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - METT5D1 Thr278Ser T278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - METTL10 Ser64Gly S64G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.754 - - 2 - 1 N - - METTL11B Lys103Arg K103R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - METTL12 Gln191Leu Q191L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 5 Y 2 N - - METTL3 Val195Ala V195A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - METTL4 Trp356Arg W356R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - METTL4 Glu341Gly E341G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - METTL5 Asn52Asp N52D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - METTL7A Ser110Arg S110R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - METTL7B Asp211Val D211V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.355 - - 8 Y 1 N - - METTL8 Met399Ile M399I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MEX3C Ser496Ala S496A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - MFGE8 Glu104Lys E104K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MFI2 Met407Thr M407T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - MFN2 Gly298Arg G298R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - MFSD11 Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 2 - 0 N - - MFSD4 Arg103Leu R103L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.637 - - 6 Y 1 N - - MFSD4 Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MFSD4 Leu300Pro L300P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - 7 Y 1 N - - MFSD6L Asp574Asn D574N not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - MFSD6L Thr375Ile T375I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MFSD6L Leu263Pro L263P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - MFSD6L Thr164Ala T164A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - MFSD6L Arg74Leu R74L not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.708 - - 6 Y 1 N - - MFSD7 Leu61Phe L61F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MFSD8 Phe219Ser F219S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.418 Y Y 5 Y 3 N - - MFSD8 Leu64Pro L64P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.969 Y Y 7 Y 4 N - - MGAM His755Tyr H755Y not reviewed Insufficiently evaluated not reviewed unknown Array 367 9968 0.0368178 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.049 - - -1 - 0 N - - MGAM Ala1260Ser A1260S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10024 0.000299281 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MGAM Ile1604Val I1604V not reviewed Insufficiently evaluated not reviewed unknown Array 179 9764 0.0183327 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - MGAT1 Glu220Gln E220Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MGAT4A Gln173Arg Q173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGAT4A Gln301Arg Q301R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - MGAT4B Lys175Stop K175X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MGAT4B Lys190Stop K190X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MGAT4C Ile388Lys I388K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MGAT4C Met170Ile M170I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - MGC16385 Lys65Asn K65N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MGC24975 Pro364Leu P364L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC24975 Pro366Leu P366L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGC24975 Asp360Asn D360N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MGC24975 Asp362Asn D362N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MGC42105 Asn321Ser N321S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGC70857 Ser85Thr S85T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MGEA5 Lys816Arg K816R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MGEA5 Lys869Arg K869R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.386 - - -3 - 1 N - - MGMT Glu61Lys E61K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MIA2 Asp614Gly D614G not reviewed Insufficiently evaluated not reviewed unknown Array rs61732342 39 10734 0.00363331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MIA3 Lys482Gln K482Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 1 - 3 - - MIB1 Cys217Tyr C217Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.204 - - 6 Y 1 N - - MIB1 Ser411Pro S411P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - MICA Phe7Leu F7L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - MICA Gly137Arg G137R not reviewed Insufficiently evaluated not reviewed unknown Array rs41556715 29 3234 0.00896722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - MICA Thr238Ser T238S not reviewed Insufficiently evaluated not reviewed unknown Array rs1051799 930 3228 0.288104 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MICA Pro330Leu P330L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738275 596 3234 0.184292 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MICAL1 Ala672Pro A672P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MICAL1 Ala758Pro A758P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MICAL1 Val223Ile V223I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - MICAL2 Glu619Lys E619K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - 0 - 2 N - - MICAL2 Arg627Gly R627G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.766 - - 6 Y 1 N - - MICAL2 Asp687Glu D687E not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - MICAL3 Arg1118Pro R1118P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MICAL3 Ala864Gly A864G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MICAL3 Glu492Lys E492K not reviewed Insufficiently evaluated not reviewed unknown Array 89 7792 0.011422 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MICALCL Arg261Stop R261X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MICALCL Arg351Trp R351W not reviewed Insufficiently evaluated not reviewed unknown Array 9 10028 0.000897487 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MICALCL Glu375Lys E375K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - MICALCL Ala386Gly A386G not reviewed Insufficiently evaluated not reviewed unknown Array 20 9742 0.00205297 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.354 - - 1 - 1 N - - MICALL2 Arg643Gly R643G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - MICALL2 Asp582Glu D582E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - -2 - 1 N - - MICALL2 Ala368Thr A368T not reviewed Insufficiently evaluated not reviewed unknown Array rs59690840 142 9644 0.0147242 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - MICALL2 Thr253Met T253M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 2 - 0 N - - MID2 Asn665Ile N665I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MID2 Asn695Ile N695I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - MIER1 Asn48His N48H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MIER2 Ala475Thr A475T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - MIER2 Asp145His D145H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - MIER3 Gln334Arg Q334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MIF4GD Gly239Ser G239S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MIIP Thr208Ser T208S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - -2 - 0 N - - MIIP Arg244Cys R244C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MINA Leu359Pro L359P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MINA Leu360Pro L360P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - MINA Arg149Ser R149S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.76 - - 3 - 2 - 1 - - MINA Ala17Pro A17P not reviewed Insufficiently evaluated not reviewed unknown Array rs35391656 515 10758 0.0478714 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 7 - - MINK1 Ser652Ala S652A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - MINK1 Ser652Thr S652T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - MINK1 Ser669Ala S669A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - MINK1 Ser669Thr S669T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - MINK1 Ser689Ala S689A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - MINK1 Ser689Thr S689T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - MIPEP Ala16Ser A16S not reviewed Insufficiently evaluated not reviewed unknown Array 40 7854 0.00509295 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MIS12 Cys104Tyr C104Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.869 - - 6 Y 2 N - - MKI67 Asp365Gly D365G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 4 Y 1 N - - MKI67IP Ser290Arg S290R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67IP Ser95Pro S95P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKKS Val288Ile V288I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y -4 - 4 N - - MKL1 Pro590Ser P590S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - MKL1 Leu236Pro L236P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - MKL2 Gly14Arg G14R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MKRN3 Lys359Glu K359E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - MKRN3 Pro423Arg P423R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - MKS1 Arg479His R479H not reviewed Insufficiently evaluated not reviewed unknown Array 48 10488 0.00457666 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - MLF1 Asp11Gly D11G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 4 Y 1 N - - MLH1 His718Tyr H718Y benign Insufficiently evaluated benign dominant Array rs2020873 262 10756 0.0243585 4 0 4 3 1 2 Y 0 Y - - - - 4 Y 3 Y Y - - - 0.988 Y Y -1 - 5 - 10 - - MLH3 Glu1136Lys E1136K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - MLH3 Arg797His R797H not reviewed Insufficiently evaluated not reviewed unknown Array rs28756991 239 10758 0.022216 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MLH3 Asn766Asp N766D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.309 - - -1 - 1 N - - MLH3 Val741Ile V741I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 1 - 5 - - MLH3 Ser466Pro S466P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLKL Asp100Glu D100E not reviewed Insufficiently evaluated not reviewed unknown Array rs33987771 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - MLKL Arg82Ser R82S not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - MLL Thr3463Ala T3463A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 1 N - - MLL Glu3631Asp E3631D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.18 - - -2 - 0 N - - MLL2 Gln4262His Q4262H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLL2 Ser4010Pro S4010P not reviewed Insufficiently evaluated not reviewed unknown Array 224 10390 0.0215592 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLL2 Gln3934Arg Q3934R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL2 Ala1718Gly A1718G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MLL2 Ala476Thr A476T not reviewed Insufficiently evaluated not reviewed unknown Array rs1064210 972 10470 0.0928367 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MLL3 Thr2008Ala T2008A not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MLL3 Arg886His R886H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MLL3 Val262Ala V262A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 2 - 1 N - - MLL3 Thr61Ala T61A not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - MLL4 Asn1111His N1111H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL5 Cys146Arg C146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MLL5 Asn743Asp N743D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - MLL5 Asn852Ser N852S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL5 Ser1424Pro S1424P not reviewed Insufficiently evaluated not reviewed unknown Array rs35605511 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 1 - 2 - - MLL5 Thr1593Ile T1593I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 3 - 0 N - - MLLT10 His300Tyr H300Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - MLLT10 Leu516Pro L516P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 7 Y 2 N - - MLLT3 Leu558Pro L558P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MLLT3 Val333Ala V333A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT3 Ser149Cys S149C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLLT4 Asp745Gly D745G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MLLT4 Asp760Gly D760G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - 4 Y 1 N - - MLLT4 Asp761Gly D761G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 3 - 2 - - MLLT4 Asp846Gly D846G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - MLLT4 Asp861Gly D861G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 4 Y 0 N - - MLLT4 Asp862Gly D862G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - MLLT4 Ile1251Thr I1251T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLLT4 Ile1266Thr I1266T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLLT4 Ile1267Thr I1267T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLLT6 Val168Ala V168A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLPH Arg331Gln R331Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.623 - - 0 - 1 N - - MLPH Glu379Asp E379D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - MLPH Glu407Asp E407D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - -2 - 2 - 1 - - MLPH Ala380Pro A380P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MLPH Ala408Pro A408P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 1 - 1 - - MLPH Glu383Gln E383Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - -2 - 1 - 1 - - MLPH Glu411Gln E411Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - -2 - 2 - 1 - - MLXIPL Ala207Val A207V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10598 0.00245329 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLYCD His272Tyr H272Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - -1 - 1 N - - MLYCD Thr284Ala T284A not reviewed Insufficiently evaluated not reviewed unknown Array rs62640903 300 9992 0.030024 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 1 N - - MMADHC Glu138Asp E138D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.977 Y Y -2 - 4 N - - MME Ser572Pro S572P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - MMP10 Phe455Val F455V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.921 - - 3 - 2 N - - MMP13 Leu373Met L373M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - MMP13 Met64Leu M64L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - MMP16 Asp94Gly D94G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.672 - - 4 Y 1 N - - MMP19 Arg359Cys R359C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MMP2 Pro133Ser P133S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.445 Y - 3 - 2 N - - MMP2 Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 3 N - - MMP25 Arg59His R59H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - MMP27 Gly501Asp G501D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10750 0.00186047 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - MMP27 His226Arg H226R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - MMP27 Ala130Val A130V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.165 - - 2 - 0 N - - MMP3 Met160Leu M160L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - -3 - 1 N - - MMP9 Val29Gly V29G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - MMP9 Arg668Pro R668P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 9 - - MMP9 Val697Met V697M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMRN1 Val132Ala V132A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - MMRN1 Gly236Glu G236E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - MMRN1 Pro278Leu P278L not reviewed Insufficiently evaluated not reviewed unknown Array 233 10756 0.0216623 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - MMRN1 Val435Leu V435L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - MMRN2 Ser28Ile S28I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - MMS19 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array rs17112809 438 10756 0.0407215 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - MMS19 Ala515Thr A515T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MND1 Thr117Met T117M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - MNS1 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - MOBKL2C Arg151Pro R151P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - MOBKL2C Arg99Pro R99P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - MOCOS Arg159Trp R159W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - MOCOS Glu759Gly E759G not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.926 - - 6 Y 2 N - - MOCS1 Arg568Trp R568W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MOCS1 Arg584Trp R584W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MOCS1 Gly499Glu G499E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MOCS1 Gly515Glu G515E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MOCS3 Thr165Ser T165S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - MOGAT2 Pro196His P196H not reviewed Insufficiently evaluated not reviewed unknown Array rs34582952 7 128 0.0546875 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 1 N - - MOGS Gly679Ser G679S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MOGS Gly785Ser G785S not reviewed Insufficiently evaluated not reviewed unknown Array rs35533773 207 10300 0.0200971 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MON1B Asn541Asp N541D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - -1 - 1 N - - MON2 Met643Thr M643T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MORC4 Asp918Tyr D918Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - MORC4 Gly677Asp G677D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 4 Y 0 N - - MORF4 Thr10Ile T10I not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MORN3 Lys111Arg K111R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MOS Tyr243Phe Y243F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -4 - 2 N - - MOSPD1 Ile210Met I210M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - MOSPD3 Tyr130Cys Y130C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MOSPD3 Tyr140Cys Y140C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - MOV10 Tyr112Cys Y112C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 6 Y 0 N - - MOV10 Val481Leu V481L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MOXD1 Asp151Val D151V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MPDZ Leu1936Val L1936V not reviewed Insufficiently evaluated not reviewed unknown Array rs73404389 51 10040 0.00507968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPG Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - MPG Asp33Asn D33N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 10 - - MPG Asp45Asn D45N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 10 - - MPG Asp50Asn D50N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 10 - - MPHOSPH10 Leu510Pro L510P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MPHOSPH8 Glu22Gly E22G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MPHOSPH9 Asn703Ser N703S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPL Gln208Lys Q208K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.47 Y - -2 - 3 - 2 - - MPL Asp295Gly D295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.958 Y - 4 Y 3 N - - MPN2 His126Leu H126L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MPND Ala315Thr A315T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MPND Ala365Thr A365T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10128 0.00157978 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MPO Glu632Gly E632G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 1 - 1 - - MPO Gln71Arg Q71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 9 - - MPP4 Glu109Lys E109K not reviewed Insufficiently evaluated not reviewed unknown Array rs58286283 218 9562 0.0227986 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.943 - - 0 - 2 N - - MPP7 Lys250Arg K250R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - -3 - 0 N - - MPRIP His746Arg H746R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MPRIP Asp1001Glu D1001E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MPV17 Arg125Trp R125W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 7 Y 4 - 1 - - MPZL3 Asp228Val D228V not reviewed Insufficiently evaluated not reviewed unknown Array rs7105729 546 10758 0.0507529 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 1 - 2 - - MRC2 Glu564Gly E564G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRE11A Met670Val M670V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRE11A Met698Val M698V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805362 68 10722 0.0063421 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - MRGPRX1 Ile36Val I36V not reviewed Insufficiently evaluated not reviewed unknown Array rs11024885 383 10742 0.0356544 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 1 - 2 - - MRGPRX2 Arg290Trp R290W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 7 Y 2 N - - MRGPRX2 Asn62Thr N62T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.765 - - 1 - 2 - 5 - - MRGPRX4 Ala182Ser A182S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MRM1 Gly314Trp G314W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 7 Y 0 N - - MRPL12 Leu48Pro L48P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - MRPL14 Arg56Cys R56C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MRPL18 Arg6Pro R6P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 3 - 1 - - MRPL24 Val213Leu V213L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - MRPL24 Pro16His P16H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 5 Y 1 N - - MRPL28 Glu200Lys E200K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - MRPL28 Leu14Val L14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 2 - 1 - - MRPL3 Val337Ala V337A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.194 - - 2 - 0 N - - MRPL3 Arg239Gly R239G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MRPL32 Met5Val M5V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - MRPL35 Arg29His R29H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 1 - 2 N - - MRPL37 Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - MRPL4 Val180Ile V180I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.148 - - -4 - 0 N - - MRPL40 Leu116Val L116V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - MRPL40 Asn184Thr N184T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - MRPL41 Thr45Ser T45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - MRPL44 Arg14Cys R14C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MRPL46 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array 265 10758 0.0246328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 1 N - - MRPL46 Arg46Leu R46L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 3 - 1 - - MRPL47 Lys180Arg K180R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MRPL47 Lys70Arg K70R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MRPL48 Gly55Arg G55R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - 6 Y 1 N - - MRPL48 Glu66Gln E66Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MRPL51 Leu38Val L38V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MRPL52 Gly5Glu G5E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 6 Y 1 - 1 - - MRPS10 Ser193Pro S193P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPS12 His8Arg H8R not reviewed Insufficiently evaluated not reviewed unknown Array rs33988199 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 1 - 3 - - MRPS12 Thr67Ser T67S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.148 - - -2 - 0 N - - MRPS15 Thr252Arg T252R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - MRPS18B Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - MRPS2 Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 1 - 2 - - MRPS23 His176Leu H176L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - MRPS31 Asp279His D279H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 3 - 3 - 2 - - MS4A10 Lys49Gln K49Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MS4A12 Arg155His R155H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MS4A14 His529Arg H529R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MS4A14 His546Arg H546R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MS4A15 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MS4A15 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - MS4A2 Phe191Leu F191L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MS4A6A Asp35Gly D35G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - MS4A7 Val47Ile V47I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - MS4A8B Val95Leu V95L not reviewed Insufficiently evaluated not reviewed unknown Array rs35956659 548 10758 0.0509388 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.253 - - 0 - 0 N - - MSH2 Ile216Val I216V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MSH2 Leu599Val L599V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 3 - - MSH3 Ala438Val A438V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MSH5 Leu190Gln L190Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MSH5 Leu207Gln L207Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MSI1 Ala336Thr A336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MSI1 Gln223Glu Q223E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - -2 - 2 N - - MSI2 Val132Ala V132A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MSI2 Val136Ala V136A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 2 - 2 N - - MSL2 Cys45Ser C45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 3 - 1 - - MSLN Pro233Ser P233S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - MSLN Glu313Gly E313G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - MSLNL Asp667Asn D667N not reviewed Insufficiently evaluated not reviewed unknown Array 395 10510 0.0375833 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSLNL Met549Val M549V not reviewed Insufficiently evaluated not reviewed unknown Array 287 10218 0.0280877 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSLNL Ala465Thr A465T not reviewed Insufficiently evaluated not reviewed unknown Array 210 9930 0.021148 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - MSLNL Pro378Leu P378L not reviewed Insufficiently evaluated not reviewed unknown Array 264 9806 0.0269223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MSLNL Ala321Gly A321G not reviewed Insufficiently evaluated not reviewed unknown Array 88 10016 0.00878594 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MSLNL Pro130Leu P130L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10662 0.000844119 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MSLNL Met98Val M98V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10648 0.000845229 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSLNL Leu29Arg L29R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10568 0.000567751 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MSR1 Ile181Val I181V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MST1R Leu1349Arg L1349R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MSTN Lys153Arg K153R not reviewed Insufficiently evaluated not reviewed unknown Array rs1805086 863 10754 0.0802492 7 0 7 0 0 - - - - - - - - - - - - Y - - - 0.026 - Y -3 - 2 - 7 - - MSTO1 Cys443Arg C443R not reviewed Insufficiently evaluated not reviewed unknown Array 178 10750 0.0165581 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MT1F Ala9Ser A9S not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 1 - 8 - - MT1H Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.365 - - 2 - 2 - 9 - - MT1H Asn4Ser N4S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - MTA1 Gln156Arg Q156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTA2 Lys611Met K611M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - 4 Y 0 N - - MTAP Phe177Ser F177S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - MTBP Arg411Lys R411K not reviewed Insufficiently evaluated not reviewed unknown Array 179 10756 0.0166419 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.305 - - -3 - 1 N - - MTBP Gly641Arg G641R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTDH Pro96Ala P96A not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - MTDH Glu400Gly E400G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - MTERFD1 Lys211Gln K211Q not reviewed Insufficiently evaluated not reviewed unknown Array 519 10758 0.0482432 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.839 - - -2 - 1 N - - MTERFD1 Arg29His R29H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MTERFD3 Pro260Ser P260S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.452 - - 3 - 1 N - - MTF1 Thr356Met T356M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - MTFMT Ala201Thr A201T not reviewed Insufficiently evaluated not reviewed unknown Array 21 9692 0.00216674 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTG1 Ile293Leu I293L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 1 - 2 - - MTHFD1 Thr761Met T761M not reviewed Insufficiently evaluated not reviewed unknown Array rs10813 332 10758 0.0308608 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 3 - 6 - - MTHFD1L Phe978Leu F978L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MTIF2 Tyr307Stop Y307X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - MTIF3 Asp266Glu D266E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 2 - - MTMR10 Arg575Gln R575Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 9746 0.00133388 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - MTMR10 Glu106Asp E106D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 1 - 1 - - MTMR15 Lys148Glu K148E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTMR15 Glu691Gln E691Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTMR2 Glu430Gln E430Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - MTMR2 Glu502Gln E502Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735578 359 10758 0.0333705 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - MTMR2 Glu163Gly E163G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MTMR2 Glu235Gly E235G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MTMR3 Gln106Arg Q106R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MTMR3 Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.59 - - 1 - 2 - 1 - - MTMR3 Met137Val M137V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.224 - - 0 - 1 N - - MTMR3 Tyr185His Y185H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - MTMR6 Pro485Leu P485L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.717 - - 7 Y 1 N - - MTMR6 Ser279Pro S279P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - MTMR8 Ile684Thr I684T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - MTNR1A Ile212Thr I212T not reviewed Insufficiently evaluated not reviewed unknown Array 248 10758 0.0230526 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MTNR1B Asn130Ser N130S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.756 - - 0 - 1 N - - MTO1 Leu394Met L394M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MTO1 Leu419Met L419M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -3 - 2 N - - MTOR Gln2194Leu Q2194L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - MTOR Val2183Ile V2183I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MTP18 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTR Gly939Arg G939R not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MTR Ser1073Pro S1073P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MTR Asn1222Ser N1222S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739582 228 10758 0.0211935 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 0 - 2 N - - MTRF1 Ile407Val I407V not reviewed Insufficiently evaluated not reviewed unknown Array rs9315812 221 10758 0.0205429 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.931 - - -4 - 2 N - - MTRR Gln367Arg Q367R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MTRR Gln394Arg Q394R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MTSS1L Thr697Ile T697I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - MTSS1L Ser309Thr S309T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - -2 - 1 N - - MTSS1L Lys137Arg K137R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.887 - - -3 - 2 N - - MTTP Val593Ala V593A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 0 N - - MTUS1 Glu1036Gln E1036Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTUS1 Glu1090Gln E1090Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.521 - - -2 - 1 N - - MTUS1 Glu256Gln E256Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTUS1 Glu337Gln E337Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTUS1 Ser124Phe S124F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MTUS1 Ser205Phe S205F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MTUS1 Ser904Phe S904F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MTUS1 Ser958Phe S958F not reviewed Insufficiently evaluated not reviewed unknown Array 17 9792 0.00173611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 2 N - - MUC16 Ser13577Asn S13577N not reviewed Insufficiently evaluated not reviewed unknown Array 119 10260 0.0115984 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 His13576Asn H13576N not reviewed Insufficiently evaluated not reviewed unknown Array 49 10246 0.00478235 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Asn13438Asp N13438D not reviewed Insufficiently evaluated not reviewed unknown Array 3639 10568 0.344341 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC16 Arg12619His R12619H not reviewed Insufficiently evaluated not reviewed unknown Array 216 9454 0.0228475 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Thr12578Ser T12578S not reviewed Insufficiently evaluated not reviewed unknown Array 232 10106 0.0229567 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Lys12556Gln K12556Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10036 0.00209247 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Thr12553Asn T12553N not reviewed Insufficiently evaluated not reviewed unknown Array 223 10034 0.0222244 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Thr11535Met T11535M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Met8699Val M8699V not reviewed Insufficiently evaluated not reviewed unknown Array 71 9964 0.00712565 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Arg8606Cys R8606C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10206 0.000587889 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC16 Pro8550Leu P8550L not reviewed Insufficiently evaluated not reviewed unknown Array rs56971020 100 10010 0.00999001 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Gly7509Cys G7509C not reviewed Insufficiently evaluated not reviewed unknown Array 5 9982 0.000500901 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Thr7477Met T7477M not reviewed Insufficiently evaluated not reviewed unknown Array 88 9924 0.00886739 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Pro6794Ser P6794S not reviewed Insufficiently evaluated not reviewed unknown Array rs7252893 29 10548 0.00274934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Asn6278Ser N6278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Pro5830Ser P5830S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747477 71 9926 0.00715293 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Asp5542Asn D5542N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Pro5512Ser P5512S not reviewed Insufficiently evaluated not reviewed unknown Array 88 10026 0.00877718 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Ser4937Gly S4937G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10278 0.00233508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ser3606Thr S3606T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Asp2438Asn D2438N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Asp1956Asn D1956N not reviewed Insufficiently evaluated not reviewed unknown Array 46 10388 0.00442819 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Asp1475Asn D1475N not reviewed Insufficiently evaluated not reviewed unknown Array 132 9868 0.0133766 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Val208Gly V208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC16 Gly46Asp G46D not reviewed Insufficiently evaluated not reviewed unknown Array 45 10260 0.00438596 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Asp101Gly D101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Ser156Asn S156N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Ser313Arg S313R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC17 Met929Thr M929T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Arg1046His R1046H not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - MUC17 Thr1093Ala T1093A not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - MUC17 Pro1249Ala P1249A not reviewed Insufficiently evaluated not reviewed unknown Array rs4729653 447 10758 0.0415505 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - MUC17 Gly1618Asp G1618D not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Pro1631Leu P1631L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC17 Thr1778Asn T1778N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Ala1852Thr A1852T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Ala1868Pro A1868P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Ser1914Asn S1914N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Thr1988Ile T1988I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Gly2022Ser G2022S not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Thr2155Ala T2155A not reviewed Insufficiently evaluated not reviewed unknown Array rs28410465 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Ser2396Gly S2396G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Met2407Thr M2407T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Met3330Thr M3330T not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Pro3508Thr P3508T not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Val3677Ala V3677A not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Thr3766Met T3766M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Asp3952Gly D3952G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Asp4266Glu D4266E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Thr1403Pro T1403P not reviewed Insufficiently evaluated not reviewed unknown Array 670 10242 0.0654169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC2 Pro1627Leu P1627L not reviewed Insufficiently evaluated not reviewed unknown Array 462 9336 0.0494859 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC2 Ala1631Pro A1631P not reviewed Insufficiently evaluated not reviewed unknown Array 488 9294 0.052507 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC21 Glu304Asp E304D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC4 Val4905Leu V4905L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Val746Leu V746L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Val797Leu V797L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Thr4875Ala T4875A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Thr716Ala T716A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Thr767Ala T767A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Val348Met V348M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Val399Met V399M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Val4507Met V4507M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Leu248Gln L248Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Leu299Gln L299Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Leu4407Gln L4407Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Ala3609Ser A3609S not reviewed Insufficiently evaluated not reviewed unknown Array 1094 3128 0.349744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Gly3388Ser G3388S not reviewed Insufficiently evaluated not reviewed unknown Array 47 3208 0.0146509 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Pro3346Thr P3346T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC4 Gly3308Ser G3308S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Thr2415Pro T2415P not reviewed Insufficiently evaluated not reviewed unknown Array rs73085320 105 3198 0.032833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC4 Ser2055Phe S2055F not reviewed Insufficiently evaluated not reviewed unknown Array 603 3186 0.189266 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC4 Leu970Phe L970F not reviewed Insufficiently evaluated not reviewed unknown Array 188 10652 0.0176493 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Pro657Leu P657L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Arg464Gln R464Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6774275 122 9936 0.0122786 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MUC5AC Val52Phe V52F not reviewed Insufficiently evaluated not reviewed unknown Array rs55861305 231 4580 0.0504367 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC5AC Ala1139Val A1139V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Asn2552Lys N2552K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Pro2582Leu P2582L not reviewed Insufficiently evaluated not reviewed unknown Array rs2943510 1227 10690 0.11478 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC5AC Ala5955Val A5955V not reviewed Insufficiently evaluated not reviewed unknown Array 48 10440 0.0045977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Ile5997Val I5997V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10612 0.00442895 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC5AC Ile6001Val I6001V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10588 0.00434454 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC5B Ala483Val A483V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Asn1862Lys N1862K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Pro1892Leu P1892L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5B Ala5623Val A5623V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ile5665Val I5665V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC5B Ile5669Val I5669V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC6 Gln2002His Q2002H not reviewed Insufficiently evaluated not reviewed unknown Array 1844 10756 0.171439 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC6 His1758Leu H1758L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10744 0.00325763 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 His1752Gln H1752Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10740 0.0018622 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 His1697Gln H1697Q not reviewed Insufficiently evaluated not reviewed unknown Array 235 10750 0.0218605 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 Pro1634His P1634H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10744 0.00465376 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC6 Pro1605Thr P1605T not reviewed Insufficiently evaluated not reviewed unknown Array 105 10652 0.0098573 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC6 Thr1498Ile T1498I not reviewed Insufficiently evaluated not reviewed unknown Array 126 10674 0.0118044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC6 Ala1471Ser A1471S not reviewed Insufficiently evaluated not reviewed unknown Array 5 70 0.0714286 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC6 Leu1443His L1443H not reviewed Insufficiently evaluated not reviewed unknown Array 92 10684 0.00861101 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUL1 Arg260Gln R260Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.844 - - 0 - 1 N - - MUM1 Asp243His D243H not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUM1 Arg554Gly R554G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUPCDH Ser380Phe S380F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUPCDH Ala121Val A121V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MURC Gln27Arg Q27R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - MURC Asp163Gly D163G not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 4 Y 0 N - - MUS81 Asn531Lys N531K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MUT Arg532Pro R532P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - MUTED Asn147Ser N147S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUTED Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.882 - - 7 Y 3 - 5 - - MUTYH Leu229Arg L229R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MUTYH Leu230Arg L230R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MUTYH Leu243Arg L243R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 1 - - MUTYH Leu254Arg L254R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 6 Y 1 N - - MUTYH Leu257Arg L257R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MVD Gly365Ser G365S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10746 0.00260562 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - MVK Asn252Ser N252S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 3 - - MVP Lys444Arg K444R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MX1 Gln611His Q611H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 5 - - MXRA5 Pro1665Ala P1665A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 3 - 4 - - MXRA5 Arg1158His R1158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MXRA5 Thr274Ala T274A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.193 - - 1 - 0 N - - MXRA5 Trp219Arg W219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - MYBBP1A Lys1318Glu K1318E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.629 - - 0 - 1 N - - MYBBP1A Lys1299Arg K1299R not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - MYBBP1A Ser1293Tyr S1293Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - MYBBP1A Arg634Gln R634Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - MYBL2 Pro334Ser P334S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBPC1 Lys769Thr K769T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBPC1 Lys787Thr K787T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBPC1 Lys794Thr K794T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBPC1 Glu1113Asp E1113D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYBPC1 Glu1131Asp E1131D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYBPC1 Glu1138Asp E1138D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYBPC2 Thr314Ala T314A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYBPC2 Asp769Asn D769N not reviewed Insufficiently evaluated not reviewed unknown Array 88 10274 0.00856531 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBPC2 Arg1089Pro R1089P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 5 - - MYBPC2 Gln1100Stop Q1100X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYBPC3 Gly738Ser G738S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MYBPC3 Arg709Stop R709X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - MYBPC3 Thr173Ile T173I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - MYBPH Arg319His R319H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - MYBPH Ala284Val A284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.214 - - 2 - 1 N - - MYBPH Arg111Lys R111K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MYBPHL Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYCBP Ala78Val A78V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 2 - 0 N - - MYCBP2 Cys3594Arg C3594R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - MYCBP2 Asn2038Ser N2038S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MYCBP2 Val1879Ile V1879I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.217 - - -4 - 1 N - - MYCBP2 Ser1566Pro S1566P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 3 - 1 N - - MYCBP2 Gly1339Val G1339V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MYCBP2 Ile400Val I400V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.31 - - -4 - 1 N - - MYCBP2 His393Arg H393R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - MYCBPAP Met38Val M38V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10724 0.000279746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYEOV Met219Leu M219L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - MYEOV2 Lys242Arg K242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MYH1 Gln1876Stop Q1876X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYH1 Glu1388Gly E1388G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - MYH1 Glu858Stop E858X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYH1 Gly636Ser G636S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH10 Ala1726Val A1726V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH11 Val360Ile V360I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MYH11 Val367Ile V367I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MYH14 Pro31Thr P31T not reviewed Insufficiently evaluated not reviewed unknown Array rs590722 818 7486 0.109271 9 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - MYH14 Ser337Cys S337C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MYH14 Ser345Cys S345C not reviewed Insufficiently evaluated not reviewed unknown Array 30 9954 0.00301386 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - MYH14 Val1432Met V1432M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYH14 Val1440Met V1440M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYH14 Val1473Met V1473M not reviewed Insufficiently evaluated not reviewed unknown Array 5 9892 0.000505458 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYH15 Asp1467Asn D1467N not reviewed Insufficiently evaluated not reviewed unknown Array rs1078456 71 10238 0.00693495 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.325 - - -1 - 2 - 1 - - MYH3 Lys1044Met K1044M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 4 Y 3 N - - MYH3 Asn1019Thr N1019T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.101 Y - 1 - 1 N - - MYH3 Thr846Ala T846A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 1 - 1 N - - MYH3 Phe365Ser F365S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.96 Y - 5 Y 3 N - - MYH3 Lys190Thr K190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 3 - 3 N - - MYH4 Gln1658His Q1658H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - MYH4 Arg1479Cys R1479C not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - MYH4 Gln1475Arg Q1475R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - MYH4 Thr870Ala T870A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYH4 Leu788Pro L788P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 7 Y 0 N - - MYH4 Asp741Gly D741G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - MYH4 Pro735Thr P735T not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - MYH4 Thr419Ser T419S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MYH4 Thr415Ile T415I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - MYH4 Pro378Ser P378S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - MYH4 Pro83Leu P83L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MYH6 Arg1820Trp R1820W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - MYH6 Thr1184Met T1184M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - MYH6 Lys998Glu K998E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - MYH6 Met331Ile M331I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - MYH7 Ser1362Thr S1362T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.919 Y Y -2 - 4 N - - MYH7 Lys365Asn K365N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 1 - 4 N - - MYH7B Phe807Cys F807C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYH7B Thr1324Met T1324M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH8 Glu1824Gly E1824G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.587 Y - 6 Y 2 N - - MYH8 Lys1460Arg K1460R not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.031 Y - -3 - 1 N - - MYH8 Leu1177Gln L1177Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.1 Y - 5 Y 1 N - - MYH9 Glu271Asp E271D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y -2 - 4 N - - MYL1 Val11Ala V11A not reviewed Insufficiently evaluated not reviewed unknown Array rs62001905 291 10724 0.0271354 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYL12B His147Arg H147R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYL12B His165Arg H165R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYL4 Arg125His R125H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.404 - - 1 - 1 N - - MYL5 Glu172Asp E172D not reviewed Insufficiently evaluated not reviewed unknown Array 134 10734 0.0124837 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - MYL6 Arg146His R146H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYLIP Val241Ile V241I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYLIP Thr405Ala T405A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - MYLK Met1167Val M1167V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYLK Met1236Val M1236V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - 0 - 1 N - - MYLK His1012Arg H1012R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYLK His1081Arg H1081R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - MYLK Arg776Cys R776C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - MYLK Arg845Cys R845C not reviewed Insufficiently evaluated not reviewed unknown Array rs3732485 75 10742 0.00698194 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 5 - - MYLK Arg469Trp R469W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYLK Arg538Trp R538W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.884 - - 7 Y 2 N - - MYLK Pro160Arg P160R not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - MYLK His97Tyr H97Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - -1 - 3 - 2 - - MYLK2 Ser184Asn S184N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MYLK3 Glu768Ala E768A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.182 - - 3 - 0 N - - MYNN Asp100Gly D100G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - 4 Y 2 N - - MYO10 Met903Lys M903K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO15A Lys1003Gln K1003Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MYO15A Gln1138Arg Q1138R not reviewed Insufficiently evaluated not reviewed unknown Array 152 10152 0.0149724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYO15A Pro2162Leu P2162L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MYO16 Val20Ala V20A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - MYO16 Glu35Gly E35G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 3 - 1 - - MYO16 Val90Ile V90I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO18A Glu1288Val E1288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - MYO18B Thr772Met T772M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10286 0.00544429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - MYO18B Ile1399Val I1399V not reviewed Insufficiently evaluated not reviewed unknown Array rs695633 364 10330 0.0352372 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - MYO19 Asn6Ser N6S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738887 507 9888 0.0512743 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 0 N - - MYO1B Asn840Ser N840S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1B Asn898Ser N898S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MYO1E Asp317Gly D317G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO1H Ser257Cys S257C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740371 304 9728 0.03125 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.799 - - 3 - 1 N - - MYO3A Tyr370Cys Y370C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 6 Y 4 - 1 - - MYO3A Glu1197Lys E1197K not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYO3A Gly1461Asp G1461D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.197 Y - 4 Y 1 N - - MYO3B Ala406Thr A406T not reviewed Insufficiently evaluated not reviewed unknown Array rs10168181 262 9754 0.0268608 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - MYO5C Ser1353Leu S1353L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9914 0.000302602 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYO6 Asp382Asn D382N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MYO7A Ala1005Val A1005V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.135 Y Y 2 - 2 N - - MYO7A Val1656Ile V1656I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MYO7A Val1694Ile V1694I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.032 Y Y -4 - 2 N - - MYO7B Ile926Thr I926T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10266 0.000584453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MYO7B Val1012Ile V1012I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741454 77 10260 0.00750487 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - MYO7B Arg1264Gln R1264Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2245408 117 10052 0.0116395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO7B Arg1312Gln R1312Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743523 69 9974 0.00691799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.867 - - 0 - 2 N - - MYO7B Val1631Met V1631M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10502 0.00276138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO9A Asn2504Thr N2504T not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO9A His1795Tyr H1795Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16956367 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - MYO9A Pro1784Ser P1784S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO9A Lys1770Glu K1770E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO9A Glu1511Gly E1511G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYO9A Gly1470Glu G1470E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYO9A Leu1145Stop L1145X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYO9A Tyr1112His Y1112H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO9A Thr841Ala T841A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO9A Gln792Pro Q792P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO9A Ser743Gly S743G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO9A Glu525Lys E525K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MYO9B His1338Tyr H1338Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10020 0.000499001 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYOCD Pro633Ala P633A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOCD Pro729Ala P729A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOM1 Met1357Thr M1357T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOM1 Met1453Thr M1453T not reviewed Insufficiently evaluated not reviewed unknown Array rs16944397 455 9618 0.0473071 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOM1 Arg1253Gln R1253Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYOM1 Arg1349Gln R1349Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYOM1 Lys926Arg K926R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MYOM1 Glu600Val E600V not reviewed Insufficiently evaluated not reviewed unknown Array rs9807556 156 9758 0.0159869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - MYOM1 Asn446Lys N446K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - MYOM1 His382Gln H382Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - MYOM2 Asp374Gly D374G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYOM2 Pro799Ala P799A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOM2 Glu1284Asp E1284D not reviewed Insufficiently evaluated not reviewed unknown Array rs34735757 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - MYOM3 Ser291Ala S291A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - MYPN Ser762Gly S762G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - MYPN Pro816Leu P816L not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 7 Y 1 N - - MYST2 Ser52Gly S52G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - MYST3 Gln1285His Q1285H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYST4 Glu1166Ala E1166A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - MYST4 Asn1791His N1791H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - MYT1 His357Gln H357Q not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.116 - - -1 - 0 N - - MYT1 Tyr427Cys Y427C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - N-PAC Gly290Arg G290R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - N-PAC Ser5Asn S5N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - N4BP2 Ser1223Ile S1223I not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - N4BP2 Val1436Ala V1436A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - N4BP2 Asn1549Ser N1549S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - N4BP2L2 Arg691Ser R691S not reviewed Insufficiently evaluated not reviewed unknown Array rs34539888 617 9806 0.0629207 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 1 - - N4BP2L2 Asp246Val D246V not reviewed Insufficiently evaluated not reviewed unknown Array rs35108810 467 9596 0.0486661 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - N4BP2L2 His79Arg H79R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAAA Gly344Ser G344S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - NAAA Ile271Asn I271N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - NAALADL2 Thr79Ile T79I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9700 0.000103092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.753 - - 3 - 1 N - - NAALADL2 Ile80Val I80V not reviewed Insufficiently evaluated not reviewed unknown Array 60 9708 0.00618047 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAALADL2 Ser529Arg S529R not reviewed Insufficiently evaluated not reviewed unknown Array 87 9542 0.00911758 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 1 N - - NAALADL2 Arg609Cys R609C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9400 0.000106382 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - NACA Ile1922Met I1922M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - NACA Ile59Met I59M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - NACA Asp818Gly D818G not reviewed Insufficiently evaluated not reviewed unknown Array 4 7820 0.000511508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NACA Pro490Arg P490R not reviewed Insufficiently evaluated not reviewed unknown Array rs11834498 110 7820 0.0140665 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - NACA Cys216Tyr C216Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NACAD Asn1555Lys N1555K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - NACAD Ala1311Thr A1311T not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NACAD Ala1056Val A1056V not reviewed Insufficiently evaluated not reviewed unknown Array 19 3234 0.00587508 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - NACAD Arg205Gln R205Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.115 - - 0 - 0 N - - NADSYN1 Tyr57His Y57H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - NADSYN1 Ser644Phe S644F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 5 Y 1 N - - NAE1 Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAE1 Thr155Ala T155A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAE1 Thr66Ala T66A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - NAF1 Ile147Val I147V not reviewed Insufficiently evaluated not reviewed unknown Array rs34283388 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAGA Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.913 Y - 1 - 3 N - - NAGLU Arg615His R615H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - NAGPA Gly386Arg G386R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NALCN Asp105Gly D105G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 4 Y 2 N - - NANOG His47Asn H47N not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - NAP5 Asn1669Ile N1669I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAP5 Ala1458Val A1458V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAPEPLD Val359Glu V359E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NAPRT1 Leu305Val L305V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 3 - 1 - - NAPRT1 Arg156Cys R156C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10708 0.000186776 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NAPSA Leu408Val L408V not reviewed Insufficiently evaluated not reviewed unknown Array 64 10706 0.00597796 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - NAPSA Glu208Gln E208Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.7 - - -2 - 1 N - - NARF Glu273Gly E273G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NARF Arg351Gln R351Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NARF Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NARF Arg410Gln R410Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - NARF Arg456Gln R456Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NARG1L Leu89Ser L89S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NARG1L Tyr418Cys Y418C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NARG2 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NARG2 Pro367Leu P367L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 7 Y 0 N - - NARS2 Phe337Ser F337S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - NAT1 Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 0 - 0 N - - NAT1 Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAT10 Ser396Pro S396P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAT10 Ser468Pro S468P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - NAT12 His133Tyr H133Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAT13 Glu143Gly E143G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAT15 His218Gln H218Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34464545 154 10312 0.0149341 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAT2 Leu50Met L50M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NAT5 Ala54Val A54V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAT5 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAT5 Leu156Ser L156S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAT5 Leu168Ser L168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAT8 Glu104Lys E104K not reviewed Insufficiently evaluated not reviewed unknown Array rs13424561 416 10758 0.0386689 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 1 - 4 - - NAT8B Ser143Cys S143C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAT8B Cys105Arg C105R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NAV1 Thr919Met T919M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 2 - 0 N - - NAV1 Gln937His Q937H not reviewed Insufficiently evaluated not reviewed unknown Array rs16849342 535 10758 0.0497304 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 2 - 5 - - NAV2 Thr1619Ala T1619A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAV2 Thr1683Ala T1683A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAV2 Thr747Ala T747A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBAS Leu2001Phe L2001F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NBAS Leu866Pro L866P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NBAS Arg304Met R304M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 4 Y 2 N - - NBAS Arg59His R59H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBEAL2 Arg274Cys R274C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NBEAL2 Arg1276Trp R1276W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10646 9.3931e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NBN Phe603Val F603V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.129 Y Y 3 - 2 N - - NBN Asp519Tyr D519Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y 7 Y 4 N - - NBPF10 Arg3184Cys R3184C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NBPF10 Arg3522Lys R3522K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NBPF20 Thr103Met T103M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBPF7 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 1 N - - NBR1 Leu204Ser L204S not reviewed Insufficiently evaluated not reviewed unknown Array 48 9666 0.00496586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - NCALD Ile27Val I27V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NCAN Thr666Met T666M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - NCAN Ser838Asn S838N not reviewed Insufficiently evaluated not reviewed unknown Array rs10426537 267 10758 0.0248187 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.867 - - 0 - 2 N - - NCAN Gln1288His Q1288H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - NCAPD2 His859Arg H859R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 1 - 1 N - - NCAPD3 Arg1473Gln R1473Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - NCAPD3 Val1284Ala V1284A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCAPD3 Pro1076Ser P1076S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - NCAPD3 Ala340Thr A340T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCAPD3 Ile202Thr I202T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - NCAPG Gln161Arg Q161R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NCAPG Val754Met V754M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.247 - - 0 - 1 N - - NCAPH Gln307Arg Q307R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 0 - 2 N - - NCAPH Ala623Thr A623T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - NCAPH2 Arg418Gln R418Q not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 0 - 1 N - - NCBP1 Ser132Pro S132P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - NCBP1 Ser494Pro S494P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 3 - 1 N - - NCCRP1 Arg274Trp R274W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NCF4 Thr85Asn T85N not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCF4 Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCF4 Ala304Glu A304E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCKAP1 Glu713Gly E713G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCKAP1 Glu719Gly E719G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCL Asp249Gly D249G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCL Glu196Asp E196D not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - NCOA1 Ser444Pro S444P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - NCOA1 Glu945Gly E945G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - NCOA3 Pro544Ser P544S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - NCOA3 Pro559Ser P559S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230781 192 10758 0.0178472 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 1 - 7 - - NCOA3 Gln1182Leu Q1182L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - NCOA5 Asp545Asn D545N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - NCOA6 Ser1498Pro S1498P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 2 N - - NCOA6 Ile1439Thr I1439T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCOA6 Gln274Leu Q274L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - NCOA6 Ala163Val A163V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NCOR1 Ala1930Ser A1930S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -1 - 1 N - - NCOR1 Ser1804Leu S1804L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - NCOR1 Pro893Ser P893S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - NCOR1 Val828Ala V828A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 2 - 0 N - - NCOR2 Val37Ala V37A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCSTN Glu77Asp E77D not reviewed Insufficiently evaluated not reviewed unknown Array rs35603924 165 10758 0.0153374 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.328 - - -2 - 2 - 3 - - NDC80 Leu532Pro L532P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - NDE1 Pro213Leu P213L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - NDEL1 Pro230Ala P230A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NDFIP1 Leu5Val L5V not reviewed Insufficiently evaluated not reviewed unknown Array 20 5422 0.00368867 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDFIP2 Ala39Val A39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NDFIP2 Ala136Gly A136G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - NDNL2 Val207Ile V207I not reviewed Insufficiently evaluated not reviewed unknown Array rs61749506 586 10758 0.0544711 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.122 - - -4 - 0 N - - NDOR1 Leu202Val L202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDOR1 Leu236Val L236V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDOR1 Leu476Val L476V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDOR1 Leu503Val L503V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDOR1 Leu510Val L510V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - NDOR1 Met548Val M548V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDOR1 Met555Val M555V not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 0 - 1 N - - NDOR1 Met564Val M564V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDRG1 Thr356Ala T356A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.927 Y Y 1 - 4 N - - NDST3 Trp145Leu W145L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - NDST3 Tyr304His Y304H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.431 - - -1 - 1 N - - NDST4 Asn538Lys N538K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NDUFA10 Ala232Pro A232P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NDUFA10 Glu226Ala E226A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - NDUFA10 Asn65Ser N65S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10756 0.0105987 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NDUFA4L2 Asp83Val D83V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 2 N - - NDUFA6 His134Tyr H134Y not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NDUFAF4 Ile22Val I22V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.154 Y - -4 - 1 N - - NDUFB10 Ala170Val A170V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - NDUFB6 Lys101Glu K101E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - NDUFB9 Pro146Ala P146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 8 - - NDUFS1 Arg417Ser R417S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 3 N - - NDUFS2 Pro20Ala P20A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 9 - - NDUFS3 Thr21Ile T21I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - NDUFV3 Glu319Gln E319Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NDUFV3 Pro348Ser P348S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEB Lys6070Arg K6070R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - NEB Arg2952His R2952H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9600 0.000208333 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NEB Ile2239Met I2239M not reviewed Insufficiently evaluated not reviewed unknown Array 78 9498 0.00821226 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NEB Ala1400Thr A1400T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10322 0.000581282 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NEB Tyr1301Asp Y1301D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - NECAB2 Ser206Asn S206N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - NECAB2 Ser305Pro S305P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - NECAB3 Pro328Ala P328A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NECAB3 Pro362Ala P362A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 2 - 0 N - - NEDD1 Pro464Ala P464A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEDD1 Pro553Ala P553A not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 2 - 2 N - - NEDD1 Pro560Ala P560A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEDD4 Glu1051Gly E1051G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEDD4 Glu704Gly E704G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEDD4 Glu198Gln E198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NEDD4 Glu545Gln E545Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NEDD9 His663Arg H663R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.71 - - 1 - 1 N - - NEDD9 Pro304Leu P304L not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - NEDD9 Ile142Thr I142T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEFH Thr329Ala T329A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEFH Glu792Asp E792D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NEFM Glu516Gly E516G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEFM Glu892Gly E892G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEIL1 Ser248Arg S248R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NEIL3 Met149Thr M149T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.544 - - 2 - 1 N - - NEIL3 Gln172His Q172H not reviewed Insufficiently evaluated not reviewed unknown Array rs17064658 304 10758 0.028258 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.657 - - -1 - 1 N - - NEK11 Ala332Thr A332T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 0 N - - NEK11 Phe383Ser F383S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 5 Y 1 N - - NEK11 Gln385Arg Q385R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NEK11 Glu405Gly E405G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - NEK3 Val163Met V163M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK4 Asn414Asp N414D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - NEK4 Ser354Gly S354G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - NEK5 Arg655Ser R655S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.717 - - 3 - 1 N - - NEK5 Gln646Arg Q646R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK5 Arg474Leu R474L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - NEK5 Arg245Gln R245Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - NEK5 Gln211His Q211H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.406 - - -1 - 1 N - - NEK8 Leu123His L123H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - NELF Gln186Stop Q186X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NEO1 Ser451Pro S451P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - NEO1 Ile1019Thr I1019T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 2 N - - NEO1 Ser1333Pro S1333P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - NES Pro1296Leu P1296L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - NES Arg882Gly R882G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 6 Y 2 N - - NES Pro367Leu P367L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - NETO1 Leu397Pro L397P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NETO1 Leu398Pro L398P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - NEU1 Asp263Gly D263G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.081 Y - 4 Y 1 N - - NEU1 Thr183Ile T183I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - NEU2 Arg152Gln R152Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NEU3 Pro357Leu P357L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10488 0.000190694 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - NEURL4 Thr923Ala T923A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEURL4 Thr925Ala T925A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - NEUROG3 Arg19Leu R19L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NF1 Val551Ala V551A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.238 Y Y 2 - 4 - 1 - - NF1 Ser674Arg S674R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.125 Y Y 3 - 2 N - - NF1 Asn1492Ser N1492S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NF1 Asn1513Ser N1513S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.141 Y Y 0 - 2 N - - NF1 Glu1701Gly E1701G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NF1 Glu1722Gly E1722G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.238 Y Y 6 Y 3 N - - NF1 Thr1959Ala T1959A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NF1 Thr1980Ala T1980A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.761 Y Y 1 - 3 N - - NFASC Val603Met V603M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFASC Val609Met V609M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - NFASC Val620Met V620M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFATC1 Ser256Asn S256N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFATC1 Ser269Asn S269N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NFATC2IP Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array rs7201257 388 8308 0.046702 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NFATC3 Pro382Ser P382S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230095 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - NFATC3 His737Leu H737L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 6 Y 1 N - - NFATC3 Glu1043Gly E1043G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NFE2L3 Asn226Ser N226S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NFE2L3 Gln272Arg Q272R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - NFE2L3 Arg537Cys R537C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NFIL3 Lys406Glu K406E not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.198 - - 0 - 0 N - - NFKB1 Asp469Gly D469G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFKB1 Ala655Thr A655T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFKB1 Ala702Thr A702T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFKB1 His712Gln H712Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 9 - - NFKBID Ala65Ser A65S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - -1 - 1 N - - NFKBIL2 Gly493Arg G493R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NFS1 Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NFU1 Pro25Thr P25T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFU1 Pro49Thr P49T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFXL1 Thr907Ala T907A not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFXL1 Ser177Leu S177L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - NGEF Val458Ala V458A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.325 - - 2 - 1 N - - NGEF Val550Ala V550A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - NGLY1 Ser560Pro S560P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NGLY1 Ser584Pro S584P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NGLY1 Ser602Pro S602P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 3 - 0 N - - NGLY1 Ile485Val I485V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NGLY1 Ile509Val I509V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NGLY1 Ile527Val I527V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - NGLY1 Gln378Arg Q378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NGLY1 Gln402Arg Q402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NGLY1 Gln420Arg Q420R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - NGLY1 Ser110Gly S110G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - NGLY1 Ser68Gly S68G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NHLRC2 Ser524Pro S524P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NHLRC2 Ile651Met I651M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - NHLRC2 Asp655His D655H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - NHLRC2 Ile679Val I679V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NHSL1 Asp1306Asn D1306N not reviewed Insufficiently evaluated not reviewed unknown Array 2 3226 0.000619962 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - -1 - 1 N - - NHSL1 Arg1156Cys R1156C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NHSL1 Phe390Leu F390L not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NHSL2 Glu149Gly E149G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NID1 Gly858Arg G858R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NID1 Pro791Thr P791T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.136 - - 4 Y 0 N - - NID1 Ile604Phe I604F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - NID1 Val462Ile V462I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - -4 - 1 N - - NID1 Ala3Val A3V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 1 - 10 - - NID2 Gly1184Ser G1184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NID2 Leu724Val L724V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 0 - 0 N - - NID2 Gly690Val G690V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 8 Y 0 N - - NID2 Arg493Thr R493T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - NIN Met1554Thr M1554T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - NIN Met1560Thr M1560T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NIN Leu1482Pro L1482P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NIN Leu1488Pro L1488P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NIN Tyr1252His Y1252H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - NIN Tyr1258His Y1258H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIN Asp821Gly D821G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.489 - - 4 Y 2 - 1 - - NIN Asp827Gly D827G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NINL Val669Ile V669I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - -4 - 0 N - - NINL Gly79Val G79V not reviewed Insufficiently evaluated not reviewed unknown Array rs6115203 82 10758 0.00762223 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.554 - - 8 Y 2 - 3 - - NIPA2 Gln325His Q325H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIPA2 Gln344His Q344H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - NIPAL1 His355Arg H355R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - NIPAL2 Asp239Gly D239G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NIPAL2 Ile164Met I164M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - NIPAL3 Lys197Glu K197E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - NIPBL Glu340Gly E340G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 6 Y 2 N - - NISCH Val407Met V407M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NISCH Thr1090Met T1090M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NKAIN4 Val168Ala V168A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NKAIN4 Val71Ile V71I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NKAP Val353Ala V353A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - NKAPL Ser23Phe S23F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737338 269 10758 0.0250046 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NKD2 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 4738 0.000422119 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - NKD2 Pro102Leu P102L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - NKRF Leu673Pro L673P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 7 Y 1 N - - NKTR Ser777Pro S777P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NKX2-5 Leu116Arg L116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 6 Y 1 N - - NKX2-5 Ala42Pro A42P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10560 0.000568181 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.654 Y - 2 - 3 - 2 - - NKX2-6 Arg38Pro R38P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NLE1 Gln27Lys Q27K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - NLE1 Gln319Lys Q319K not reviewed Insufficiently evaluated not reviewed unknown Array 449 10758 0.0417364 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLGN2 Ser246Arg S246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.136 - - 3 - 0 N - - NLGN2 Asp358Gly D358G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - NLK Ile144Val I144V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NLRC4 Asn590Ser N590S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - NLRC5 Gln135Arg Q135R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - NLRC5 Glu142Val E142V not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - NLRP1 Val939Leu V939L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NLRP1 Leu283Phe L283F not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - NLRP1 Leu140Val L140V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - 0 - 1 N - - NLRP10 Lys435Asn K435N not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - 1 - 0 N - - NLRP10 Val206Glu V206E not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 5 Y 1 N - - NLRP10 Arg10Gln R10Q not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.273 - - 0 - 1 N - - NLRP10 Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - NLRP12 Arg343Trp R343W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NLRP12 Pro319Arg P319R not reviewed Insufficiently evaluated not reviewed unknown Array rs35401786 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 2 - - NLRP12 Asp142Asn D142N not reviewed Insufficiently evaluated not reviewed unknown Array rs34330210 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 3 - 2 - - NLRP14 Cys88Ser C88S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - NLRP14 Thr650Ala T650A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NLRP14 Val923Ala V923A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLRP2 Ser24Arg S24R not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 3 - 0 N - - NLRP2 Thr529Ile T529I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP2 Asn1028Ser N1028S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NLRP4 Ile346Thr I346T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 3 - 0 N - - NLRP6 Gly110Arg G110R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NLRP7 Thr1000Ala T1000A not reviewed Insufficiently evaluated not reviewed unknown Array rs7256020 7 128 0.0546875 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 - 1 - - NLRP7 Thr1028Ala T1028A not reviewed Insufficiently evaluated not reviewed unknown Array 288 10758 0.0267708 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 2 - - NLRP7 Thr971Ala T971A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.481 Y - 1 - 2 N - - NLRP8 His185Gln H185Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - NLRP8 Phe427Leu F427L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - NLRP8 Met667Arg M667R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NLRP8 Ile752Met I752M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.35 - - -1 - 1 N - - NLRP9 Ser499Leu S499L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NLRX1 Arg125Leu R125L not reviewed Insufficiently evaluated not reviewed unknown Array rs3809045 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 3 - 2 - - NLRX1 Gln686Arg Q686R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NMD3 Ala451Thr A451T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10750 0.00223256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NMD3 Tyr459Ser Y459S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - NME4 Arg161Gly R161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NME5 Thr119Ala T119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 1 - 2 N - - NMRAL1 Arg48Gly R48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 6 Y 2 N - - NMT1 Leu163Val L163V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 1 - 3 - - NMUR1 Met220Ile M220I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - -1 - 1 N - - NMUR1 Arg179Cys R179C not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - NMUR2 Ser298Arg S298R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - NNT Arg27His R27H not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NNT Asn197Ser N197S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - NNT Tyr874Cys Y874C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NOB1 Ser379Thr S379T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NOC2L Leu670Pro L670P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - NOC2L Ser586Arg S586R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 3 - 1 N - - NOC2L Glu306Asp E306D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 3 - 1 - - NOC2L Ala203Val A203V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOC3L Arg125Gln R125Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - NOC4L Arg374Gly R374G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10620 0.000282485 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NOD2 Ala105Thr A105T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.675 Y - 1 - 3 - 2 - - NOD2 His352Arg H352R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 1 - 4 - 5 - - NOD2 Arg790Gln R790Q not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 2 - 4 - - NOL10 Cys16Trp C16W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 7 Y 1 N - - NOL11 Ser11Phe S11F not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 1 N - - NOL12 Tyr98Asn Y98N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 3 - 1 - - NOL4 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOL6 Leu237Val L237V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - 0 - 1 N - - NOL8 Ala466Gly A466G not reviewed Insufficiently evaluated not reviewed unknown Array 2 9848 0.000203086 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 0 N - - NOL8 Thr322Ile T322I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9606 0.000208203 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - NOLC1 Val577Ile V577I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10734 0.00260853 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - -4 - 1 N - - NOM1 Gly534Arg G534R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - NOM1 Ser640Pro S640P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.469 - - 3 - 1 N - - NOM1 Arg779Cys R779C not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - NOP14 Arg639Gly R639G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - NOP14 Gln208His Q208H not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - NOS2 Arg1086Cys R1086C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - NOS2 Arg452Gln R452Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - NOS3 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array 173 10584 0.0163454 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 2 - 1 - - NOTCH1 Val2536Ile V2536I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10008 0.00069944 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 2 - 1 - - NOTCH1 Ala2331Thr A2331T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10138 0.00562241 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 2 - 2 - - NOTCH1 Val1222Met V1222M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - NOTCH2 Arg2060His R2060H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.94 Y Y 1 - 4 N - - NOTCH2 Gln1631His Q1631H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y -1 - 4 N - - NOTCH3 Asn856Tyr N856Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.488 Y Y 5 Y 3 N - - NOTCH4 His991Arg H991R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - NOTCH4 Ala610Val A610V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - NOTO Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - NOTUM Asp473Asn D473N not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - -1 - 2 N - - NOX4 Thr286Ala T286A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - NOX4 Thr310Ala T310A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.116 - - 1 - 0 N - - NOX5 Met77Lys M77K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NOX5 Lys716Glu K716E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOX5 Val717Ala V717A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOXA1 Leu99Arg L99R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748945 138 10644 0.012965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 3 - 1 - - NOXA1 Arg421Stop R421X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10638 9.4002e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOXA1 Arg466Trp R466W not reviewed Insufficiently evaluated not reviewed unknown Array 146 10736 0.0135991 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.847 - - 7 Y 1 N - - NOXO1 Glu141Ala E141A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOXO1 Glu142Ala E142A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOXO1 Glu147Ala E147A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - NPAS2 Ile344Met I344M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NPAS4 Thr777Ile T777I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - NPAT Gln1251Glu Q1251E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - -2 - 0 N - - NPC1 Val1115Phe V1115F not reviewed Insufficiently evaluated not reviewed unknown Array rs34226296 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NPC1 Asn931Lys N931K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.338 Y Y 1 - 3 N - - NPC1 Arg646His R646H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - NPC1 Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NPC1L1 Asp1087His D1087H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPC1L1 Asp1114His D1114H not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPC2 Ser121Thr S121T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.189 Y Y -2 - 2 N - - NPEPL1 Arg185Cys R185C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NPEPL1 Arg391Cys R391C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - NPFFR1 Ala191Ser A191S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - NPFFR2 Ser21Pro S21P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPFFR2 Ser35Thr S35T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NPFFR2 Arg59Cys R59C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NPHP1 Cys272Arg C272R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NPHP1 Cys335Arg C335R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NPHP1 Cys390Arg C390R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - NPHP1 Cys391Arg C391R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NPHP1 Ala168Val A168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NPHP1 Ala230Val A230V not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - NPHP1 Lys82Arg K82R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y -3 - 4 N - - NPHP1 Glu71Gly E71G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - NPHP3 Phe1324Ser F1324S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.074 Y - 5 Y 1 N - - NPHP3 Tyr1178His Y1178H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y - -1 - 3 N - - NPHP3 Arg1167His R1167H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.841 Y - 1 - 2 N - - NPHP3 Thr709Ala T709A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.968 Y - 1 - 3 N - - NPHP3 Thr331Ala T331A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.101 Y - 1 - 1 N - - NPHP3 Leu197Phe L197F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - NPHP4 His894Arg H894R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10338 0.00367576 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.071 Y - 1 - 1 N - - NPHP4 Ser885Arg S885R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10496 0.000571646 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - NPHP4 Gln569Glu Q569E not reviewed Insufficiently evaluated not reviewed unknown Array 49 10150 0.00482759 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - -2 - 2 N - - NPHP4 Ala171Thr A171T not reviewed Insufficiently evaluated not reviewed unknown Array 43 10132 0.00424398 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - NPHS1 Arg1089Thr R1089T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.913 Y - 3 - 3 N - - NPHS1 Val991Leu V991L not reviewed Insufficiently evaluated not reviewed unknown Array rs34736717 527 10758 0.0489868 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - NPHS1 Thr233Ala T233A not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 1 - 3 N - - NPHS1 Pro222Leu P222L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - NPHS2 Gln219Leu Q219L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 5 Y 3 N - - NPL Thr17Ala T17A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 3 - 6 - - NPM3 Asp145Glu D145E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - -2 - 1 - 1 - - NPPB Met93Leu M93L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - -3 - 2 - 7 - - NPR1 Tyr395Cys Y395C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.165 - - 6 Y 0 N - - NPR1 Leu531Gln L531Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 5 Y 0 N - - NPR2 Phe710Leu F710L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.876 Y - 0 - 3 N - - NPS Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array 64 9648 0.0066335 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 3 - 6 - - NPTN Thr194Ser T194S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NPTN Thr78Ser T78S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NPTX1 Leu303Val L303V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - NPTX2 His194Arg H194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 1 - 2 N - - NPTX2 Glu336Asp E336D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - NPTXR His412Tyr H412Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - NPY1R Leu307Pro L307P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NQO1 Arg139Gly R139G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.426 - - 6 Y 2 - 9 - - NR1D1 Phe314Ser F314S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - NR1D1 Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - NR1H2 Ala55Gly A55G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - 1 - 1 N - - NR1I3 Gly246Arg G246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly275Arg G275R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly280Arg G280R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly285Arg G285R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly290Arg G290R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly314Arg G314R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly318Arg G318R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR1I3 Gly323Arg G323R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NR2C1 Phe44Leu F44L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR2C2 Gln545His Q545H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR3C1 Ser425Pro S425P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - NR3C1 Asn363Ile N363I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.565 - - 7 Y 2 - 2 - - NR3C1 Phe65Val F65V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 3 - 10 - - NR4A1 Asp36Gly D36G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 4 Y 2 N - - NRAP Ser1532Gly S1532G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRAP Ser1567Gly S1567G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - NRAP Asp1426Gly D1426G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRAP Asp1461Gly D1461G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - NRAP Asp931Val D931V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Asp966Val D966V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - NRAP Ile799Thr I799T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRAP Ile834Thr I834T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - NRAP Gly557Asp G557D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRAP Gly592Asp G592D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.786 - - 4 Y 1 N - - NRAP Ser402Arg S402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRAP Ser437Arg S437R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - NRAP Val208Gly V208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 1 - 4 - - NRAS Asn172Asp N172D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NRBP1 Lys178Arg K178R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - NRCAM Thr662Ala T662A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRCAM Thr678Ala T678A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - NRG1 Phe286Leu F286L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG1 Phe71Leu F71L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - NRG1 Val38Ala V38A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRG1 Ala34Glu A34E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 2 - 1 - - NRG1 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NRG4 Arg84Met R84M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - NRIP1 Gln1101His Q1101H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - NRIP1 Lys576Arg K576R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - -3 - 0 N - - NRIP1 Leu304Ser L304S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - NRK Ala993Glu A993E not reviewed Insufficiently evaluated not reviewed unknown Array rs16984889 949 7968 0.119101 14 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NRM Arg27Cys R27C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 5 - - NRN1L Met2Val M2V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRP1 Ser267Asn S267N not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRSN2 Asp44Asn D44N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - NRTN Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 3 - 10 - - NRXN2 Met948Leu M948L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NRXN2 Met988Leu M988L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -3 - 2 N - - NRXN3 Ile125Thr I125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRXN3 Ile757Thr I757T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NSBP1 Glu210Gln E210Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NSD1 Pro308Ala P308A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 2 - 4 N - - NSD1 Pro39Ala P39A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - NSD1 Arg1012His R1012H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - NSD1 Arg743His R743H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NSD1 Glu1130Gly E1130G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 6 Y 4 N - - NSD1 Glu861Gly E861G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NSD1 Arg1171His R1171H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.545 Y Y 1 - 3 N - - NSD1 Arg902His R902H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NSFL1C Phe213Leu F213L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NSFL1C Phe293Leu F293L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NSFL1C Phe324Leu F324L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - NSMAF Tyr626Phe Y626F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - NSMAF Tyr657Phe Y657F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - NSMAF Ala294Val A294V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NSMAF Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NSMAF Ala200Pro A200P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NSMAF Ala231Pro A231P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NSUN2 Pro760Arg P760R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 5 Y 1 N - - NSUN2 Asp731Glu D731E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - NSUN2 Val715Leu V715L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NSUN2 Asn240Tyr N240Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - NSUN4 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - NSUN5 Cys461Gly C461G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NSUN5 Ala457Thr A457T not reviewed Insufficiently evaluated not reviewed unknown Array 326 10754 0.0303143 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NSUN5 Arg17Cys R17C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.832 - - 8 Y 1 N - - NT5C1A Ser366Ala S366A not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - NT5C1B Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NT5C1B Arg367Cys R367C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NT5C1B Phe229Leu F229L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NT5C1B Phe289Leu F289L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NT5C1B Arg81Cys R81C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - NT5E Met379Arg M379R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 4 Y 2 - 7 - - NT5E Met379Lys M379K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 4 Y 1 - 7 - - NTF3 Asn11Ser N11S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NTHL1 Gln141His Q141H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - NTN3 Pro171Ser P171S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - NTN3 Pro425Ser P425S not reviewed Insufficiently evaluated not reviewed unknown Array rs34818219 260 10752 0.0241815 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - NTN4 Gly442Arg G442R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 6 Y 2 N - - NTN4 Thr340Asn T340N not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - NTN4 Phe286Leu F286L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NTN4 Arg73Gly R73G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NTN5 Arg194Gln R194Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 9202 0.00369485 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - NTN5 Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - NTRK3 Thr563Ala T563A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - NTRK3 Asp495Asn D495N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - -1 - 3 - 1 - - NTRK3 Leu152Pro L152P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 7 Y 1 N - - NUAK1 Ala533Val A533V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NUAK1 Arg484His R484H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 1 - - NUB1 Lys4Asn K4N not reviewed Insufficiently evaluated not reviewed unknown Array 73 9490 0.00769231 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - 1 - 3 - 8 - - NUBP2 Thr180Arg T180R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 3 - 2 N - - NUCB1 Arg87Pro R87P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.806 - - 5 Y 1 N - - NUCKS1 Lys102Glu K102E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - NUDCD3 Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 2 - - NUDT1 Gln14His Q14H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NUDT1 Gln37His Q37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NUDT12 Gln170Stop Q170X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NUDT13 Gln317Leu Q317L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - NUDT13 Pro351Thr P351T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.81 - - 4 Y 1 N - - NUDT17 Glu250Lys E250K not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 0 - 1 N - - NUF2 Val347Ala V347A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUMA1 Gln1634Arg Q1634R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 1 N - - NUP133 Thr593Ala T593A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 1 - 2 N - - NUP133 Asp485Gly D485G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - NUP153 Thr1388Ala T1388A not reviewed Insufficiently evaluated not reviewed unknown Array rs45475293 261 10758 0.024261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - NUP153 Ser818Pro S818P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NUP153 Leu55Val L55V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - NUP153 Ile39Val I39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - NUP160 Glu614Gly E614G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NUP188 Gly7Arg G7R not reviewed Insufficiently evaluated not reviewed unknown Array 158 8130 0.0194342 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.358 - - 6 Y 1 N - - NUP188 Ala25Val A25V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - NUP188 Leu47His L47H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - NUP188 Tyr478His Y478H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - NUP188 Thr1062Ala T1062A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - NUP188 Ala1525Val A1525V not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NUP205 Met423Ile M423I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.218 - - -1 - 1 N - - NUP205 Asn1111Ser N1111S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NUP205 Lys1401Glu K1401E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.551 - - 0 - 1 N - - NUP205 Thr1453Ala T1453A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - NUP205 Glu1531Gly E1531G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - NUP210 Ser869Gly S869G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - NUP210 Pro599Leu P599L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 1 - 1 - - NUP210 Ile437Val I437V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NUP210 Thr339Ala T339A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - NUP210 Ala167Val A167V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP210L Asn1207Ser N1207S not reviewed Insufficiently evaluated not reviewed unknown Array 11 9706 0.00113332 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NUP43 Cys362Arg C362R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - NUP50 Thr371Ala T371A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUP50 Thr399Ala T399A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.321 - - 1 - 1 N - - NUP62 Asp441Glu D441E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 3 - 1 - - NUP88 Val60Ala V60A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - NUP98 Arg1561Gln R1561Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP98 Arg1635Gln R1635Q not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP98 Thr355Ala T355A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 1 - 1 N - - NUPR1 Gly60Ser G60S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUPR1 Gly78Ser G78S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUTF2 Gln28Leu Q28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.65 - - 5 Y 1 N - - NVL Arg41Gly R41G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.586 - - 6 Y 2 - 4 - - NWD1 Trp15Arg W15R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NWD1 Gln48Leu Q48L not reviewed Insufficiently evaluated not reviewed unknown Array 238 10758 0.0221231 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NWD1 Thr276Ile T276I not reviewed Insufficiently evaluated not reviewed unknown Array rs61998161 232 10752 0.0215774 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - NWD1 His603Arg H603R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NWD1 Ala790Thr A790T not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NWD1 Gln1025His Q1025H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NWD1 Val1315Met V1315M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NXF1 Asp532Tyr D532Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NXF5 Arg320Gln R320Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 8761 0.00171213 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NXF5 Ile49Val I49V not reviewed Insufficiently evaluated not reviewed unknown Array 12 8761 0.00136971 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NXN Ser194Pro S194P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.467 - - 3 - 1 N - - NXNL2 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NXPH3 Thr119Ala T119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OAS1 Val135Leu V135L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OAS1 Gly162Arg G162R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - OAS1 Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OAS1 Ala352Ser A352S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 4 - - OAS1 Ala352Pro A352P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - OAS1 Asp354Asn D354N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OAS1 Ser414Cys S414C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OAS2 Ser707Asn S707N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.811 - - 0 - 1 N - - OASL Pro512Ser P512S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - OASL Ile418Val I418V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - OASL Ile178Leu I178L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.705 - - -2 - 1 N - - OAZ3 Leu101Arg L101R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - OAZ3 Leu146Arg L146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - OBFC1 Lys176Arg K176R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - OBFC1 Arg145Gln R145Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 1 - - OBSCN Val1448Ala V1448A not reviewed Insufficiently evaluated not reviewed unknown Array 145 10254 0.0141408 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.122 - - 2 - 0 N - - OBSCN Ser2247Phe S2247F not reviewed Insufficiently evaluated not reviewed unknown Array 127 10690 0.0118803 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - OBSCN Asn2593Ser N2593S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10558 0.000663004 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - OBSCN Ser2618Asn S2618N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10412 0.00163273 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.839 - - 0 - 1 N - - OBSCN Arg2628His R2628H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10392 9.6227e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - OBSCN Ala2839Val A2839V not reviewed Insufficiently evaluated not reviewed unknown Array 90 10002 0.0089982 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.182 - - 2 - 0 N - - OBSCN Thr2879Met T2879M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - OBSCN Cys3218Ser C3218S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OBSCN Gly3484Ala G3484A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 1 - 2 N - - OBSCN Arg4558Cys R4558C not reviewed Insufficiently evaluated not reviewed unknown Array 75 10276 0.00729856 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.838 - - 8 Y 1 N - - OBSCN Arg5158His R5158H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10574 9.4571e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.515 - - 1 - 1 N - - OBSCN Pro6272Ser P6272S not reviewed Insufficiently evaluated not reviewed unknown Array rs11585049 375 9744 0.0384852 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.402 - - 3 - 2 - 1 - - OBSCN Pro7084Thr P7084T not reviewed Insufficiently evaluated not reviewed unknown Array 42 9536 0.00440436 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.402 - - 4 Y 1 N - - OBSL1 Glu658Lys E658K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OCA2 Ile722Thr I722T not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 2 - - OCEL1 His181Asn H181N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OCIAD1 Ser213Cys S213C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ODC1 Leu339His L339H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ODC1 Glu274Gly E274G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ODC1 Gly268Arg G268R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733046 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.856 - - 6 Y 3 - 1 - - ODC1 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ODF1 Ser222Asn S222N not reviewed Insufficiently evaluated not reviewed unknown Array 875 10576 0.0827345 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ODF2L Gly426Arg G426R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ODF2L Gly557Arg G557R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ODF2L Asp127Gly D127G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ODF3L1 Gln15Stop Q15X not reviewed Insufficiently evaluated not reviewed unknown Array rs28413581 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ODF3L1 Arg136Cys R136C not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ODZ2 Arg1061Cys R1061C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ODZ2 Val2439Met V2439M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ODZ2 Ser2578Asn S2578N not reviewed Insufficiently evaluated not reviewed unknown Array 128 10320 0.0124031 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ODZ4 Val2645Ile V2645I not reviewed Insufficiently evaluated not reviewed unknown Array 114 10452 0.010907 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - ODZ4 Gly2577Cys G2577C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745704 142 10306 0.0137784 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - ODZ4 Asn1960Ser N1960S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ODZ4 Gln378His Q378H not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ODZ4 Asn369His N369H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - OFD1 Ser781Arg S781R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.484 Y Y 3 - 3 N - - OGDH Ser55Trp S55W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 7 Y 1 N - - OGDH Asn1021Lys N1021K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGFOD1 Pro272Ala P272A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - OGFOD1 Cys308Arg C308R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.875 - - 8 Y 2 N - - OGFR Met72Val M72V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - OGFR Arg267His R267H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OGFR Val271Met V271M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - 0 - 2 N - - OGFR Gly658Arg G658R not reviewed Insufficiently evaluated not reviewed unknown Array rs11543349 336 10736 0.0312966 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.824 - - 6 Y 1 N - - OGFRL1 Ala333Val A333V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OGG1 Pro29Arg P29R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.764 - - 5 Y 1 N - - OGG1 Glu230Gln E230Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - OIP5 Pro5Ala P5A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 2 - 3 - 6 - - OIT3 Asn371Lys N371K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.44 - - 1 - 1 N - - OLA1 Lys112Arg K112R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OLA1 Lys270Arg K270R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - OLFM1 Thr311Ala T311A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OLFM4 Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array rs34901659 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OLFM4 Leu187Gln L187Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - OLFM4 Met342Ile M342I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - OLFM4 Tyr441His Y441H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - OLFML1 Ile102Met I102M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - OLFML1 Glu276Gly E276G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OLFML2A Ser329Phe S329F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - OLFML2A Thr398Ala T398A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 3 - 1 - - OLFML2B Ser384Arg S384R not reviewed Insufficiently evaluated not reviewed unknown Array rs35444039 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - OLFML3 Val286Ala V286A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - OMD Asn316Lys N316K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 3 - 4 - - OMD Leu256Pro L256P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 7 Y 1 N - - OMG Phe67Leu F67L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 1 - 3 - - OMP Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - OPA1 Asp696Gly D696G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPA1 Asp714Gly D714G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPA1 Asp732Gly D732G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 4 Y 4 N - - OPA1 Asp733Gly D733G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPA1 Asp750Gly D750G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPA1 Asp751Gly D751G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPA1 Asp769Gly D769G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPA1 Asp787Gly D787G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPALIN Asp44Gly D44G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OPALIN Asp57Gly D57G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OPALIN Asp67Gly D67G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - OPALIN Ala39Gly A39G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OPALIN Ala52Gly A52G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OPALIN Ala62Gly A62G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OPLAH Gly655Arg G655R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OPLAH Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7004867 784 9810 0.0799185 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OPN4 Gly444Asp G444D not reviewed Insufficiently evaluated not reviewed unknown Array rs12262894 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - OPN4 Gly455Asp G455D not reviewed Insufficiently evaluated not reviewed unknown Array 171 10730 0.0159366 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - OPRD1 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 253 10634 0.0237916 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - OPRL1 Pro6Leu P6L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - OPRM1 Ala111Thr A111T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 7 - - OPRM1 Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10194 9.8096e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OPRM1 Val389Ala V389A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OPTC Pro45Ser P45S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 3 - 0 N - - OPTC Ile60Thr I60T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - OPTN Lys322Gln K322Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - OR10A4 Phe104Val F104V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - OR10A4 Lys235Arg K235R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - -3 - 0 N - - OR10A4 Gln237Lys Q237K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - OR10A4 Ser279Tyr S279Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR10A5 Leu28Pro L28P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - OR10A5 Ala88Ser A88S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10752 0.00567336 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR10A6 Ile289Thr I289T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OR10A6 Ala243Asp A243D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR10A7 Thr160Ile T160I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - OR10AG1 Val192Ile V192I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR10G2 Ile233Arg I233R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - OR10G2 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 1 N - - OR10G3 Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR10G4 Leu15His L15H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 6 Y 1 N - - OR10G4 Val97Met V97M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10G4 Ser150Asn S150N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - OR10G8 Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.139 - - -4 - 0 N - - OR10G9 Gly14Val G14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - OR10G9 Pro24Arg P24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - OR10H2 Asp121Asn D121N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR10H5 Tyr260Stop Y260X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR10J1 Ile56Met I56M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - -1 - 1 N - - OR10J5 Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10J5 Val172Ala V172A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - OR10J5 Phe28Leu F28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.829 - - 0 - 1 N - - OR10K2 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OR10P1 Arg64His R64H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR10P1 Asn84Ser N84S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10P1 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 1 - 1 - - OR10Q1 Ala305Gly A305G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.812 - - 1 - 1 N - - OR10Q1 Leu217Gln L217Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 5 Y 0 N - - OR10Q1 Ala20Val A20V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - OR10R2 Glu31Lys E31K not reviewed Insufficiently evaluated not reviewed unknown Array rs62621279 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - OR10R2 Pro249Ser P249S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.328 - - 3 - 2 - 1 - - OR10S1 Thr177Pro T177P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - OR10T2 Cys165Ser C165S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OR10T2 Phe155Leu F155L not reviewed Insufficiently evaluated not reviewed unknown Array rs12062580 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - OR10T2 Asn43Ser N43S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR10X1 Asn188Asp N188D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - OR10X1 Pro95Leu P95L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - OR11G2 Ser45Gly S45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR11G2 Arg261Lys R261K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -3 - 0 N - - OR11H6 Gly59Glu G59E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.244 - - 6 Y 1 N - - OR11H6 Arg311Stop R311X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR12D2 Thr201Ala T201A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR12D2 Ala262Glu A262E not reviewed Insufficiently evaluated not reviewed unknown Array 8 7522 0.00106355 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR12D2 Phe266Ser F266S not reviewed Insufficiently evaluated not reviewed unknown Array 8 7520 0.00106383 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR12D3 Ser215Pro S215P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 1 - - OR13C2 Phe257Val F257V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.21 - - 3 - 1 N - - OR13C2 Phe32Leu F32L not reviewed Insufficiently evaluated not reviewed unknown Array rs28538722 7 68 0.102941 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR13C4 Glu277Gly E277G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - OR13C5 Thr219Met T219M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 1 N - - OR13C8 Val26Leu V26L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR13C8 Lys175Asn K175N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR13C9 Ala306Gly A306G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 1 - 1 - - OR13C9 Lys301Glu K301E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - OR13C9 Val146Ile V146I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - OR13C9 Ala98Ser A98S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - OR13D1 Glu328Asp E328D not reviewed Insufficiently evaluated not reviewed unknown Array rs61733820 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 1 - 1 - - OR13F1 Gly88Ala G88A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR14A16 Cys208Ser C208S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 1 N - - OR14C36 His173Leu H173L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - OR14I1 Leu254Pro L254P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - OR1A2 Ile13Met I13M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - OR1A2 Arg260His R260H not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR1B1 Arg226Stop R226X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR1D2 Val153Ile V153I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR1E2 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR1E2 Asn87Lys N87K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - OR1F1 Phe107Ser F107S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 5 Y 0 N - - OR1F1 Lys186Arg K186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - -3 - 1 N - - OR1F1 Pro262Ser P262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - OR1J1 Leu185Pro L185P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 7 Y 2 N - - OR1J1 Thr87Ala T87A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.285 - - 1 - 1 N - - OR1J2 Tyr94Cys Y94C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - OR1J2 Arg165Trp R165W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - OR1J2 Val202Leu V202L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1J2 Ile221Thr I221T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 3 - 0 N - - OR1J2 Arg227Lys R227K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - OR1J4 Lys137Thr K137T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR1L1 Thr107Met T107M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR1L1 Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array rs16912055 5 128 0.0390625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - OR1L1 Met333Thr M333T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR1L1 Gly349Arg G349R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - OR1L3 His155Leu H155L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - OR1L8 Arg221Stop R221X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR1L8 Asn173Ser N173S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - OR1L8 Arg3Gly R3G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - OR1M1 Ala91Thr A91T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 1 - 1 - - OR1M1 Val167Ile V167I not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.194 - - -4 - 1 - 1 - - OR1M1 Thr182Ile T182I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - OR1Q1 Ile37Thr I37T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 3 - 0 N - - OR1Q1 Met305Ile M305I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - OR1S1 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 1 N - - OR1S2 Ala261Thr A261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR1S2 Asp134Asn D134N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR1S2 Gly56Arg G56R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 6 Y 1 N - - OR2A12 Ala223Thr A223T not reviewed Insufficiently evaluated not reviewed unknown Array rs9655672 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR2A5 Phe102Ser F102S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.19 - - 5 Y 0 N - - OR2AG1 Ala104Thr A104T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - OR2AG1 Val204Met V204M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - OR2AG1 Ser275Pro S275P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OR2AG2 Leu222Pro L222P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 7 Y 0 N - - OR2AK2 Val45Phe V45F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - OR2B11 Leu280Phe L280F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - OR2B11 Met89Ile M89I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - OR2B2 Gln234Arg Q234R not reviewed Insufficiently evaluated not reviewed unknown Array rs34957169 7 128 0.0546875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2B6 Glu204Val E204V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2C3 Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - OR2D2 Ser271Leu S271L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR2D2 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2D2 Tyr120Ser Y120S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2D2 Val30Ile V30I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR2F1 Thr75Ile T75I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - OR2F1 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - OR2F2 Arg220Trp R220W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746066 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - OR2G3 Ala300Asp A300D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737569 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - OR2K2 Lys235Asn K235N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2L2 Phe127Ser F127S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 5 Y 0 N - - OR2L2 Ser202Thr S202T not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR2L3 Tyr59Cys Y59C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - OR2L3 His158Tyr H158Y not reviewed Insufficiently evaluated not reviewed unknown Array 142 10754 0.0132044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.744 - - -1 - 1 N - - OR2L3 Ala212Gly A212G not reviewed Insufficiently evaluated not reviewed unknown Array 845 10758 0.0785462 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2M3 Val44Phe V44F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - OR2M7 Ser93Thr S93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - OR2S2 Val238Ala V238A not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2S2 Thr161Ala T161A not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - OR2S2 Pro89Ser P89S not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 1 - 4 - - OR2T11 Val24Ala V24A not reviewed Insufficiently evaluated not reviewed unknown Array 74 10404 0.00711265 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - OR2T11 Thr2Met T2M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10316 0.00174486 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - OR2T12 Arg92Cys R92C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.346 - - 8 Y 1 N - - OR2T33 Ile309Leu I309L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR2T33 Thr277Ser T277S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - -2 - 0 N - - OR2T33 Met258Ile M258I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.714 - - -1 - 1 N - - OR2T33 Ala253Gly A253G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR2T33 Leu84Met L84M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.422 - - -3 - 1 N - - OR2T35 Val204Leu V204L not reviewed Insufficiently evaluated not reviewed unknown Array 1212 5496 0.220524 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 1 N - - OR2T4 Val186Gly V186G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 8 Y 2 N - - OR2T4 Ala215Gly A215G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - OR2T6 Ile92Phe I92F not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - OR2T6 Arg295Lys R295K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - OR2T8 Thr19Ser T19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - OR2T8 Ser41Ala S41A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2T8 Thr55Arg T55R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - OR2V2 Ile127Val I127V not reviewed Insufficiently evaluated not reviewed unknown Array rs57951228 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR2W3 Pro53Thr P53T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - OR2W5 His199Arg H199R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2Y1 Ala187Val A187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR2Z1 Leu135Phe L135F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR2Z1 Ile158Asn I158N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - OR2Z1 Tyr218Cys Y218C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR3A1 Ile177Phe I177F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 2 - 1 N - - OR3A1 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - OR3A1 Arg125Leu R125L not reviewed Insufficiently evaluated not reviewed unknown Array rs703903 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 6 - - OR3A3 Glu20Lys E20K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4A15 Thr304Ser T304S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - OR4A5 Leu298Phe L298F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR4A5 Leu12Phe L12F not reviewed Insufficiently evaluated not reviewed unknown Array 65 10750 0.00604651 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - OR4B1 Tyr33Cys Y33C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - OR4C11 Thr277Pro T277P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 4 Y 2 - 3 - - OR4C11 Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 6 Y 1 N - - OR4C11 Arg21Lys R21K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR4C12 Val7Met V7M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - OR4C13 Ile296Thr I296T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - OR4C15 Phe80Leu F80L not reviewed Insufficiently evaluated not reviewed unknown Array rs11828099 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - OR4C15 Gly204Glu G204E not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4C15 Met351Val M351V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4C16 Thr49Ala T49A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 1 - 1 - 7 - - OR4C16 Leu197Met L197M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - OR4C16 Tyr256His Y256H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.431 - - -1 - 1 N - - OR4C16 Val292Met V292M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - OR4C46 Met192Lys M192K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR4C46 Leu235His L235H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - OR4C6 His191Leu H191L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.524 - - 6 Y 1 N - - OR4D1 Met136Leu M136L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR4D11 Val49Met V49M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - OR4D11 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 1 - 1 - - OR4D11 Arg260Gln R260Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.596 - - 0 - 2 - 1 - - OR4D2 Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - 3 - 0 N - - OR4D2 Cys97Ser C97S not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 1 N - - OR4D9 Thr89Ile T89I not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4D9 Thr192Ser T192S not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.83 - - -2 - 1 N - - OR4D9 Leu305Pro L305P not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - OR4F6 Lys88Gln K88Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - OR4K13 Ile270Asn I270N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 7 Y 1 N - - OR4K13 Leu146Ser L146S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - OR4K13 Leu54Pro L54P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR4K14 Val247Ala V247A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - OR4K14 Ala68Gly A68G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - OR4K2 Thr239Asn T239N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - OR4K2 Thr241Ala T241A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - OR4K5 Asn65Lys N65K not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - OR4K5 Trp260Arg W260R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.968 - - 7 Y 2 N - - OR4L1 Ile83Thr I83T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4L1 Ile83Met I83M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4L1 Asp84Glu D84E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - -2 - 2 N - - OR4M1 Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - OR4M2 Asn5Asp N5D not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - OR4M2 Ala67Gly A67G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - OR4M2 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 124 0.0564516 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - OR4M2 Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 1 N - - OR4N2 Ala125Thr A125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - OR4N4 Arg50Lys R50K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR4N4 Arg128Trp R128W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.906 - - 7 Y 2 N - - OR4N4 Val194Met V194M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR4P4 Cys147Tyr C147Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - OR4P4 Cys301Trp C301W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - OR4S2 Phe100Leu F100L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10288 0.00466563 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - OR4S2 Glu171Gly E171G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10296 0.00097125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 6 Y 1 N - - OR4S2 Ile211Phe I211F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10264 0.000974279 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - OR51A2 Ala40Val A40V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - OR51A4 Gln299His Q299H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.138 - - -1 - 0 N - - OR51A4 Asp72Asn D72N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 3 - 3 - - OR51A4 Gly18Ala G18A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - OR51A7 Met40Ile M40I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - OR51B4 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR51B5 Arg194Stop R194X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR51B5 Cys95Ser C95S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 1 - - OR51B6 Arg160Leu R160L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR51D1 His194Arg H194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - OR51E2 Ala293Val A293V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR51F1 Ser114Tyr S114Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR51F1 Ile94Val I94V not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR51F2 Gln38Arg Q38R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.478 - - 0 - 1 N - - OR51F2 His70Tyr H70Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - OR51G1 Val281Ala V281A not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - OR51G1 Arg236Gln R236Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - OR51G1 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR51G1 Arg11Gly R11G not reviewed Insufficiently evaluated not reviewed unknown Array rs61732340 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR51G2 Arg268His R268H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - OR51I2 Phe85Leu F85L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - OR51I2 Val261Ala V261A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.247 - - 2 - 1 N - - OR51L1 Val10Ala V10A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR51M1 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51Q1 Thr17Ala T17A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.529 - - 1 - 1 N - - OR51Q1 Arg188Cys R188C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - OR51S1 Leu311Val L311V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - OR51V1 Lys275Arg K275R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.111 - - -3 - 0 N - - OR51V1 Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - OR51V1 Trp59Cys W59C not reviewed Insufficiently evaluated not reviewed unknown Array rs61738413 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - OR52B6 Arg28Cys R28C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR52D1 Thr137Asn T137N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - OR52E2 Gly93Arg G93R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR52E2 Ala69Thr A69T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.084 - - 1 - 0 N - - OR52E2 Gly30Ser G30S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - OR52E4 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - OR52E4 Val151Ala V151A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - OR52E6 Arg124Cys R124C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 8 Y 0 N - - OR52E6 Gln55Glu Q55E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - OR52E8 Arg192Cys R192C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - OR52E8 Arg137Gln R137Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - OR52E8 Met116Val M116V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.368 - - 0 - 1 N - - OR52H1 His274Tyr H274Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - OR52I1 Arg190Lys R190K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR52I2 Cys9Phe C9F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.408 - - 4 Y 1 N - - OR52I2 Leu265Ser L265S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 6 Y 0 N - - OR52J3 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - OR52K1 Val262Ile V262I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - OR52K1 Tyr282Cys Y282C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR52K2 Ala101Val A101V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR52K2 Arg124Cys R124C not reviewed Insufficiently evaluated not reviewed unknown Array rs11032296 411 10758 0.0382041 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - OR52K2 Pro310Ser P310S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52K2 Lys312Stop K312X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR52M1 Ile258Thr I258T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.504 - - 3 - 1 N - - OR52N4 Ile270Thr I270T not reviewed Insufficiently evaluated not reviewed unknown Array rs73406197 387 9996 0.0387155 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52N5 Ser224Thr S224T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR52R1 Met141Thr M141T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR52R1 Gln106His Q106H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR52R1 Leu33Ile L33I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR52R1 Thr11Met T11M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR52W1 Ile56Thr I56T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52W1 Ser248Pro S248P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52W1 Leu282Pro L282P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR56A3 Trp27Stop W27X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR56B1 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - OR56B1 Arg175His R175H not reviewed Insufficiently evaluated not reviewed unknown Array rs62617826 254 10758 0.0236103 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.523 - - 1 - 1 N - - OR56B1 Gly217Arg G217R not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR5AC2 Ser76Stop S76X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR5AC2 Gln145His Q145H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - OR5AK2 Val69Ile V69I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.553 - - -4 - 1 N - - OR5AK2 Cys169Tyr C169Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR5AU1 Ala104Ser A104S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR5B12 Cys177Gly C177G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR5B17 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - 0 - 0 N - - OR5B17 Leu112Pro L112P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.944 - - 7 Y 2 N - - OR5B2 Ala245Glu A245E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.375 - - 3 - 1 N - - OR5C1 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR5C1 Thr214Met T214M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - OR5C1 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - OR5D13 Leu45Met L45M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - -3 - 0 N - - OR5D13 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - OR5D14 Trp243Cys W243C not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR5D16 Thr256Ser T256S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.162 - - -2 - 0 N - - OR5D16 Glu327Gly E327G not reviewed Insufficiently evaluated not reviewed unknown Array rs11820541 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR5D18 Arg235Leu R235L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - OR5F1 Tyr278His Y278H not reviewed Insufficiently evaluated not reviewed unknown Array rs11825964 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - OR5H1 Asp70Glu D70E not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - OR5H1 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.476 - - -4 - 1 N - - OR5H1 Ile173Val I173V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 1 - 1 - - OR5H1 Ser249Cys S249C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 1 - - OR5H1 Asp269Gly D269G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - OR5H14 Thr10Ile T10I not reviewed Insufficiently evaluated not reviewed unknown Array 347 10700 0.0324299 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - OR5H14 Lys98Glu K98E not reviewed Insufficiently evaluated not reviewed unknown Array 175 10756 0.01627 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - OR5H15 Asn308His N308H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5H2 Tyr223His Y223H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR5H2 Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR5H6 Ser91Pro S91P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - OR5H6 Ser91Phe S91F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.111 - - 5 Y 0 N - - OR5H6 Pro199Ser P199S not reviewed Insufficiently evaluated not reviewed unknown Array 232 10746 0.0215894 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.658 - - 3 - 1 N - - OR5I1 Ile217Met I217M not reviewed Insufficiently evaluated not reviewed unknown Array rs61995928 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - OR5I1 Cys143Ser C143S not reviewed Insufficiently evaluated not reviewed unknown Array rs61995927 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - OR5K4 His6Gln H6Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - OR5K4 Leu56Pro L56P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR5K4 Ser137Pro S137P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - OR5L1 Ile309Thr I309T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10748 0.00325642 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 1 - 1 - - OR5L2 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 80 10756 0.00743771 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 1 - 1 - - OR5M10 Thr110Ser T110S not reviewed Insufficiently evaluated not reviewed unknown Array 306 10124 0.0302252 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.991 - - -2 - 2 N - - OR5M3 Ala201Pro A201P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5M8 Lys226Met K226M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 4 Y 1 N - - OR5M8 Tyr192Stop Y192X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR5M9 Ile203Ser I203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 5 Y 0 N - - OR5P3 Asn294Asp N294D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - -1 - 2 N - - OR5P3 Thr158Lys T158K not reviewed Insufficiently evaluated not reviewed unknown Array rs16932503 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.829 - - 3 - 1 N - - OR5P3 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR5P3 Thr21Ile T21I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742097 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR5R1 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 1 - 1 - - OR5T1 Asp7Gly D7G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR5T1 Asp82Gly D82G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - OR5T1 Val95Ile V95I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - OR5T1 His205Gln H205Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - -1 - 1 N - - OR5T2 Phe152Leu F152L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR5T2 Ser2Leu S2L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR5T3 Leu229Pro L229P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 7 Y 1 N - - OR5T3 Ile255Leu I255L not reviewed Insufficiently evaluated not reviewed unknown Array rs61747480 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - OR5T3 Lys340Asn K340N not reviewed Insufficiently evaluated not reviewed unknown Array rs61753411 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR5V1 Gly253Asp G253D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - OR5V1 Phe251Ser F251S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - OR5V1 Ile45Met I45M not reviewed Insufficiently evaluated not reviewed unknown Array rs9257770 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.291 - - -1 - 1 N - - OR6B2 Gln268Leu Q268L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730693 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR6B2 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6C1 Thr8Ala T8A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 1 - 1 - 1 - - OR6C1 Val74Ile V74I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -4 - 2 N - - OR6C1 Leu161Phe L161F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6C1 Met206Thr M206T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 2 - 2 N - - OR6C1 His242Arg H242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR6C1 Arg291Lys R291K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.043 - - -3 - 0 N - - OR6C2 Cys253Arg C253R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - OR6C3 Leu163Pro L163P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.072 - - 7 Y 0 N - - OR6C3 Phe206Ser F206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - OR6C3 Ala234Ser A234S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 1 - 4 - - OR6C4 Met57Thr M57T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - OR6C4 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - OR6C4 Leu205Phe L205F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - OR6C6 Pro105Leu P105L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR6C6 Gln22Pro Q22P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - OR6C65 Glu20Gly E20G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR6C65 Asn40Ile N40I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - OR6C68 Cys192Arg C192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR6C68 Ala312Pro A312P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR6C70 Thr73Ala T73A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 1 N - - OR6C74 Tyr33Phe Y33F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - -4 - 2 N - - OR6C74 Ser247Phe S247F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.479 - - 5 Y 1 N - - OR6C75 Val202Ala V202A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - OR6C75 Ala235Asp A235D not reviewed Insufficiently evaluated not reviewed unknown Array rs7976416 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 3 - 1 - - OR6C75 Met256Ile M256I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.714 - - -1 - 1 N - - OR6C75 Arg265Ser R265S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - OR6C76 Lys308Thr K308T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR6F1 Val150Met V150M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6K2 Pro155Ser P155S not reviewed Insufficiently evaluated not reviewed unknown Array 279 10758 0.0259342 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.722 - - 3 - 1 N - - OR6K6 Ile250Val I250V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR6K6 Ala273Asp A273D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - OR6M1 Thr158Ile T158I not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - OR6N1 Cys169Tyr C169Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR6N2 Val23Phe V23F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 3 - 0 N - - OR6P1 Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR6Q1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6Q1 Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array rs61739978 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR6Q1 Leu167Met L167M not reviewed Insufficiently evaluated not reviewed unknown Array rs61748337 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR6T1 Glu264Gly E264G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - OR6V1 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28563993 11 128 0.0859375 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.925 - - 0 - 1 N - - OR6V1 Val295Ala V295A not reviewed Insufficiently evaluated not reviewed unknown Array rs7779316 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.463 - - 2 - 1 N - - OR6X1 Ala229Gly A229G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - OR6X1 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 3 - 0 N - - OR6Y1 Gln318Stop Q318X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR6Y1 Arg266Leu R266L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - OR6Y1 Val113Ala V113A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - OR7A10 Tyr290Cys Y290C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 6 Y 0 N - - OR7A10 His269Pro H269P not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - OR7A10 His266Arg H266R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.151 - - 1 - 0 N - - OR7A5 Val247Gly V247G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 8 Y 2 N - - OR7A5 Ile135Val I135V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.055 - - -4 - 0 N - - OR7C1 Pro129Leu P129L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR7C2 Val225Ile V225I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR7D4 Pro79Leu P79L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732668 425 10758 0.0395055 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.224 - - 7 Y 1 N - - OR7D4 Val49Ile V49I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR7G1 Arg330Gln R330Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28716093 33 692 0.0476879 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR7G1 Ser167Phe S167F not reviewed Insufficiently evaluated not reviewed unknown Array rs7246969 784 10758 0.072876 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.982 - - 5 Y 1 N - - OR7G1 Ala156Val A156V not reviewed Insufficiently evaluated not reviewed unknown Array rs7246980 802 10758 0.0745492 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 0 N - - OR7G1 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR8A1 Gly113Glu G113E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.093 - - 6 Y 0 N - - OR8B3 Asn311Ser N311S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8D1 Met258Val M258V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.433 - - 0 - 1 N - - OR8D1 Val216Ala V216A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - OR8D4 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - OR8G5 Gly68Glu G68E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8H1 Leu221Val L221V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - OR8H1 Pro182Ser P182S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 1 N - - OR8H2 Thr95Arg T95R not reviewed Insufficiently evaluated not reviewed unknown Array rs61750935 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - OR8H2 Arg165Ser R165S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734399 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - OR8H2 Ile250Phe I250F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 2 - 1 N - - OR8H3 Leu47Ile L47I not reviewed Insufficiently evaluated not reviewed unknown Array rs7107077 729 10758 0.0677635 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR8I2 Thr78Ala T78A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - OR8J3 Thr205Lys T205K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 3 - 1 N - - OR8K3 Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array rs12291617 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 3 - - OR8S1 Val69Ala V69A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 2 - 1 N - - OR8S1 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - OR8U1 His20Tyr H20Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR8U8 His20Tyr H20Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - -1 - 1 N - - OR9A2 Tyr248Cys Y248C not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR9A2 Ser206Tyr S206Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - OR9G1 Arg121Ser R121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G1 Thr222Ile T222I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G9 Arg121Ser R121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - OR9G9 Thr222Ile T222I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - OR9K2 Arg211Gly R211G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - OR9Q1 Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - 1 - 0 N - - OR9Q2 Phe157Ser F157S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.788 - - 5 Y 1 N - - ORC1L Arg392Lys R392K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ORC1L Gln87Arg Q87R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORC3L Ser88Leu S88L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ORC3L Gln94Lys Q94K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ORC3L Gln126Arg Q126R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORC5L Lys52Asn K52N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - ORM2 Leu80Val L80V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ORMDL2 Thr66Met T66M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OS9 Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 3 - 2 - - OS9 Gly199Val G199V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 8 Y 1 N - - OSBP Thr713Ala T713A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 1 - 2 N - - OSBP Phe653Leu F653L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - OSBP2 Asp261Glu D261E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - OSBPL1A Gln190Pro Q190P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 2 N - - OSBPL3 Val10Met V10M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OSBPL5 Glu175Lys E175K not reviewed Insufficiently evaluated not reviewed unknown Array rs34183743 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 0 - 0 N - - OSBPL6 Asn202Asp N202D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OSBPL6 Asn223Asp N223D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - OSBPL6 Arg322His R322H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL6 Leu596Pro L596P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - OSBPL6 Leu600Pro L600P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OSBPL7 Thr357Asn T357N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OSBPL9 Pro114Ala P114A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSBPL9 Pro211Ala P211A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSBPL9 Pro224Ala P224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSBPL9 Pro234Ala P234A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSBPL9 Pro46Ala P46A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSBPL9 Pro59Ala P59A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSBPL9 Ser189Pro S189P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSBPL9 Ser202Pro S202P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSBPL9 Ser257Pro S257P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSBPL9 Ser354Pro S354P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSBPL9 Ser367Pro S367P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSBPL9 Ser377Pro S377P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSGEPL1 Ile384Val I384V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OSGIN1 Pro61Arg P61R not reviewed Insufficiently evaluated not reviewed unknown Array 375 10670 0.0351453 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSGIN1 Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSGIN1 Ala357Thr A357T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OSGIN2 Cys319Ser C319S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 3 - 2 - - OSGIN2 Cys363Ser C363S not reviewed Insufficiently evaluated not reviewed unknown Array rs35599414 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - OSMR Ile350Val I350V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - OSMR Ser511Gly S511G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - OSMR Asp627Glu D627E not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - OSMR Glu831Lys E831K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 0 - 0 N - - OSTCL Tyr4Cys Y4C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OTOA Ala149Asp A149D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTOA Ala70Asp A70D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTOA Ile373Val I373V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OTOA Ile618Val I618V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OTOA Ile697Val I697V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OTOF Ile1031Val I1031V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.17 Y Y -4 - 2 N - - OTOF Ile284Val I284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - OTOF Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - OTOP2 Val537Ile V537I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.828 - - -4 - 2 - 1 - - OTOP3 Val116Ala V116A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 2 - 1 N - - OTUD4 Pro703Arg P703R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTUD4 Pro704Arg P704R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTUD6A Val165Met V165M not reviewed Insufficiently evaluated not reviewed unknown Array 136 8761 0.0155233 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - OTUD6B Arg16Trp R16W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OVCA2 Cys64Phe C64F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - OVCH1 Arg1040Cys R1040C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - OVCH1 Val102Ala V102A not reviewed Insufficiently evaluated not reviewed unknown Array 36 9518 0.00378231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - OVGP1 Ala673Pro A673P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OXA1L His463Asp H463D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OXCT1 His450Arg H450R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 1 - 3 N - - OXCT1 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.856 Y - 0 - 3 N - - OXCT2 Asp267Gly D267G not reviewed Insufficiently evaluated not reviewed unknown Array rs2797373 68 10738 0.00633265 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.672 - - 4 Y 1 N - - OXER1 Ser398Phe S398F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 1 N - - OXNAD1 Lys79Arg K79R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 1 - - OXNAD1 Val141Ala V141A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - OXR1 Ser326Pro S326P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OXR1 Ser333Pro S333P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OXR1 Cys463Ser C463S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OXR1 Cys470Ser C470S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OXSM Pro181Ser P181S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - OXSR1 Val490Ala V490A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 2 - 2 N - - P11 Ile309Val I309V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - P2RX1 Met396Val M396V not reviewed Insufficiently evaluated not reviewed unknown Array 83 10756 0.00771662 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 3 - 3 - - P2RX1 Leu218Phe L218F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 1 N - - P2RX2 Lys277Arg K277R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - P2RX2 Lys297Arg K297R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - P2RX2 Lys345Arg K345R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - P2RX2 Lys369Arg K369R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - P2RX2 Lys395Arg K395R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - P2RX4 Trp50Arg W50R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - P2RX4 Thr74Ala T74A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - P2RX6 Ser403Arg S403R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - P2RX6 Ser429Arg S429R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10724 9.3248e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - P2RY1 Val173Ala V173A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - P2RY11 Ser166Gly S166G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - P2RY2 His184Gln H184Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 1 - - P2RY2 Ala329Asp A329D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - P2RY5 Ser148Gly S148G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - P2RY6 Asp4Asn D4N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - P2RY6 Asp96Asn D96N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - P4HB Pro493Ser P493S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 3 - 3 - - PABPC1 Met573Leu M573L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - -3 - 2 N - - PABPC1 Ala154Gly A154G not reviewed Insufficiently evaluated not reviewed unknown Array 792 10758 0.0736196 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 1 N - - PABPC4 Ile260Val I260V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PACS1 Asn329Ser N329S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PACS1 Thr719Ala T719A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PACSIN2 Ala355Pro A355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PACSIN3 Arg318Trp R318W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.802 - - 7 Y 1 N - - PACSIN3 Ser172Gly S172G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - PACSIN3 Gln140His Q140H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - PACSIN3 Ala2Pro A2P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - PADI1 Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 1 - 5 - - PADI3 Arg67Trp R67W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - PADI3 His100Tyr H100Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.755 - - -1 - 1 N - - PADI3 Lys198Arg K198R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PADI4 Ala17Asp A17D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - PADI4 Met164Thr M164T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 1 - 4 - - PADI6 Val259Ile V259I not reviewed Insufficiently evaluated not reviewed unknown Array 156 9756 0.0159902 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PADI6 Arg383Cys R383C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PADI6 Gly576Arg G576R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAF1 Glu385Gly E385G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAF1 Met250Thr M250T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - PAF1 Asp226Gly D226G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - PAF1 Ile176Thr I176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - PAFAH1B3 Cys55Arg C55R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 8 Y 2 N - - PAG1 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAGE1 Leu128Pro L128P not reviewed Insufficiently evaluated not reviewed unknown Array 232 8761 0.026481 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 1 - 1 - - PAGE5 His24Asn H24N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - PAGE5 His4Asn H4N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - PAIP1 Val298Ala V298A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - PAIP1 Val331Ala V331A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAIP1 Val410Ala V410A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - PAK1 Ser2Stop S2X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 6 - - PAK1IP1 Glu215Asp E215D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PAK1IP1 Lys359Glu K359E not reviewed Insufficiently evaluated not reviewed unknown Array rs34857240 224 10758 0.0208217 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAK4 Met371Ile M371I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PAK4 Met524Ile M524I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - PALB2 Thr361Ala T361A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PALB2 Asn241Asp N241D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PALB2 Ser136Arg S136R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - PALM2 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PALM2 Thr95Met T95M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PALM2 Ser318Pro S318P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PALM2 Ser352Pro S352P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PALM2-AKAP2 Ile84Val I84V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PALM2-AKAP2 Thr93Met T93M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PALM2-AKAP2 Asn601Ile N601I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PALM2-AKAP2 Ala801Ser A801S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PALM2-AKAP2 Pro892Arg P892R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PALM2-AKAP2 Ser916Leu S916L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PALM2-AKAP2 Glu1085Val E1085V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PALM2-AKAP2 Glu1098Val E1098V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PALM3 Glu657Val E657V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PALM3 Leu464Phe L464F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALM3 Val31Leu V31L not reviewed Insufficiently evaluated not reviewed unknown Array 13 3194 0.00407013 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALMD His73Gln H73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11802902 249 10758 0.0231456 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.2 - - -1 - 1 N - - PAM Lys396Arg K396R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PAM Thr797Met T797M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAM Thr836Met T836M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAM Thr905Met T905M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAMR1 Gln339Glu Q339E not reviewed Insufficiently evaluated not reviewed unknown Array 500 10758 0.046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - PAMR1 Gln356Glu Q356E not reviewed Insufficiently evaluated not reviewed unknown Array 4 124 0.0322581 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PANK1 Glu229Gly E229G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PANK1 Glu454Gly E454G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - PANK1 Lys218Gln K218Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.353 - - -2 - 1 N - - PANK2 Leu203Ser L203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PANK2 Leu494Ser L494S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - PANK4 Arg401Trp R401W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PANX1 Arg152Cys R152C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PANX2 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PAPD4 Gly252Asp G252D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 4 Y 0 N - - PAPLN Asp907Asn D907N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PAPLN Arg1024Trp R1024W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746923 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAPLN His1062Gln H1062Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PAPOLA Leu456Pro L456P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PAPOLB Lys426Arg K426R not reviewed Insufficiently evaluated not reviewed unknown Array rs6964535 359 10740 0.0334264 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - PAPOLB Trp282Stop W282X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PAPOLG Val725Ala V725A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 2 N - - PAPPA Glu309Lys E309K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAPPA Gln854Stop Q854X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PAPPA2 Gly246Asp G246D not reviewed Insufficiently evaluated not reviewed unknown Array 10 9906 0.00100949 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAPSS1 Cys212Arg C212R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PAQR4 Gly83Ser G83S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAQR5 Ser211Thr S211T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - PAQR6 Cys101Phe C101F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAQR6 Cys207Phe C207F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.876 - - 4 Y 2 N - - PARD3 Asn279Ser N279S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - PARD3 Glu107Asp E107D not reviewed Insufficiently evaluated not reviewed unknown Array rs1436731 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.166 - - -2 - 1 - 3 - - PARD3B Pro634Leu P634L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PARD3B Pro696Leu P696L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PARD6A Val285Ile V285I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PARD6A Val286Ile V286I not reviewed Insufficiently evaluated not reviewed unknown Array rs35356834 330 10758 0.0306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - -4 - 1 N - - PARD6B Asn301Ser N301S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARD6G Ala27Gly A27G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PARK2 Met192Leu M192L not reviewed Insufficiently evaluated not reviewed unknown Array rs9456735 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y -3 - 3 - 2 - - PARK2 Ser9Pro S9P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 3 - 5 - 5 - - PARP1 Lys352Asn K352N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 1 - 9 - - PARP1 Leu181Phe L181F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PARP10 Glu635Asp E635D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - PARP10 Gly468Val G468V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.805 - - 8 Y 1 N - - PARP12 Gln269His Q269H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - -1 - 1 N - - PARP15 Ala359Gly A359G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP15 Ala593Gly A593G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP16 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - PARP3 Arg379Gln R379Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PARP3 Arg386Gln R386Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10320 9.6899e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP4 Asp1625Glu D1625E not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PARP4 Cys1499Ser C1499S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARP4 Thr1170Ile T1170I not reviewed Insufficiently evaluated not reviewed unknown Array 225 10752 0.0209263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARP4 Glu854Lys E854K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP4 Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PARP4 Gln20Arg Q20R not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP6 Glu284Asp E284D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10190 0.00157017 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PARP9 Ile606Asn I606N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PARP9 Ile641Asn I641N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - PARP9 Thr59Ala T59A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP9 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 1 N - - PARVB Asn103Lys N103K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARVB Asn70Lys N70K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - PARVB Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.765 - - 2 - 1 N - - PARVB Val297Ala V297A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PASD1 Val144Ile V144I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PASD1 Val293Met V293M not reviewed Insufficiently evaluated not reviewed unknown Array 48 8761 0.00547883 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - PASK Thr823Ala T823A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PASK Asp548Tyr D548Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - PASK Arg455Trp R455W not reviewed Insufficiently evaluated not reviewed unknown Array rs61752510 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 7 Y 0 N - - PASK Val442Met V442M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - PASK Arg336Trp R336W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 7 Y 0 N - - PASK Gly156Arg G156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PAX1 Pro471Gln P471Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.608 - - 4 Y 1 N - - PAX1 Ile482Phe I482F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PAX4 Glu86Gly E86G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PAX4 Gly63Cys G63C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PBK Glu220Asp E220D not reviewed Insufficiently evaluated not reviewed unknown Array rs17057901 258 10758 0.0239822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - -2 - 0 N - - PBOV1 Ile69Thr I69T not reviewed Insufficiently evaluated not reviewed unknown Array rs9494968 507 10758 0.0471277 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PBRM1 Asp1253Gly D1253G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 4 Y 2 N - - PBRM1 Asp1260Gly D1260G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PBRM1 Asp1285Gly D1285G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 4 Y 2 N - - PBXIP1 Leu191Pro L191P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - PC Arg732Gly R732G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.258 Y Y 6 Y 4 - 5 - - PCBP2 Gln198Arg Q198R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCBP2 Gln202Arg Q202R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCBP2 Gln229Arg Q229R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCBP2 Gln233Arg Q233R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCCA Ser494Cys S494C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PCCA Ser520Cys S520C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PCCA Ser556Leu S556L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PCCA Ser582Leu S582L not reviewed Insufficiently evaluated not reviewed unknown Array rs16957356 199 10758 0.0184979 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PCDH12 Ala899Val A899V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737140 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.28 - - 2 - 1 N - - PCDH15 Glu1194Asp E1194D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Glu1228Asp E1228D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Glu1243Asp E1243D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Glu1265Asp E1265D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Glu1270Asp E1270D not reviewed Insufficiently evaluated not reviewed unknown Array 164 10754 0.0152501 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PCDH15 Glu1277Asp E1277D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -2 - 2 N - - PCDH15 Ile741Thr I741T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ile775Thr I775T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ile790Thr I790T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ile812Thr I812T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731363 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.86 Y Y 3 - 4 N - - PCDH15 Ile817Thr I817T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Ile824Thr I824T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PCDH15 Val417Ile V417I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - PCDH15 Val432Ile V432I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - PCDH15 Val454Ile V454I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.109 Y Y -4 - 2 N - - PCDH15 Val459Ile V459I not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Val466Ile V466I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - PCDH15 Cys231Arg C231R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PCDH15 Cys246Arg C246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PCDH15 Cys268Arg C268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - PCDH15 Cys273Arg C273R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PCDH17 Val710Gly V710G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - PCDH17 Ser950Pro S950P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - PCDH17 Ser1080Stop S1080X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PCDH20 Pro861Ser P861S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - PCDH20 Gly156Glu G156E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDH21 Ile295Val I295V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDH21 Phe452Leu F452L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDH24 Gly295Ala G295A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDH24 Thr724Met T724M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH24 Leu734Pro L734P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDH24 Val1282Met V1282M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDH9 His1036Asn H1036N not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA1 Ser354Stop S354X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PCDHA1 Arg360Gly R360G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - PCDHA1 Ser366Gly S366G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA11 Trp336Cys W336C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHA11 Arg754Gln R754Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA13 Asp234Glu D234E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHA3 Gly163Glu G163E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA3 Val418Ala V418A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA4 Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA5 Arg61Leu R61L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHA5 Arg208Cys R208C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCDHA5 Thr258Ala T258A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA6 Ile192Thr I192T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA6 Ser536Arg S536R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA7 Ala663Gly A663G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PCDHA8 Thr512Ala T512A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA8 Pro765Gln P765Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHA9 Lys138Arg K138R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - PCDHA9 Trp606Cys W606C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHA9 Ala686Asp A686D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHAC1 Arg726Gly R726G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHAC2 Arg246Ser R246S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 3 - 2 N - - PCDHAC2 Phe719Leu F719L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PCDHAC2 Gln775Arg Q775R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - PCDHB1 Ile712Thr I712T not reviewed Insufficiently evaluated not reviewed unknown Array rs31738 426 10758 0.0395984 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - PCDHB10 Val473Ile V473I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 1 - 1 - - PCDHB10 Glu528Asp E528D not reviewed Insufficiently evaluated not reviewed unknown Array 680 10758 0.0632088 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PCDHB10 Leu640Ile L640I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744150 69 9924 0.00695284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - -2 - 1 N - - PCDHB11 Glu2Gly E2G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 1 - 10 - - PCDHB11 Thr360Arg T360R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - PCDHB12 Pro220Ala P220A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - PCDHB12 Glu313Lys E313K not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB12 Pro577Ser P577S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10666 9.3755e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PCDHB13 Lys305Asn K305N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - PCDHB13 Asp410Tyr D410Y not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PCDHB14 Lys73Asn K73N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB14 Ile312Leu I312L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PCDHB14 Arg355Ile R355I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHB15 Ser360Tyr S360Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.656 - - 5 Y 1 N - - PCDHB2 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array rs31853 1001 10756 0.0930643 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PCDHB3 Lys41Arg K41R not reviewed Insufficiently evaluated not reviewed unknown Array rs31849 994 10758 0.0923964 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 - 6 - - PCDHB3 Thr263Ala T263A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - PCDHB3 Asp300Gly D300G not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.672 - - 4 Y 1 N - - PCDHB4 Ser60Phe S60F not reviewed Insufficiently evaluated not reviewed unknown Array rs35205749 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PCDHB4 Lys168Arg K168R not reviewed Insufficiently evaluated not reviewed unknown Array 238 10758 0.0221231 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - PCDHB5 Thr481Asn T481N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - PCDHB5 Ser630Thr S630T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PCDHB6 Thr532Ala T532A not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - PCDHB7 Thr420Ser T420S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - -2 - 1 - 1 - - PCDHB7 Leu705Val L705V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB8 Gln251Lys Q251K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - PCDHB8 Phe460Leu F460L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - PCDHB9 Ser174Pro S174P not reviewed Insufficiently evaluated not reviewed unknown Array rs11167742 780 10758 0.0725042 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PCDHB9 His408Asn H408N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB9 Gln480Arg Q480R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PCDHB9 Thr507Met T507M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHB9 Arg596Gln R596Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB9 Trp640Ser W640S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGA1 Gly737Ser G737S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA1 Leu779Phe L779F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGA1 Ser784Gly S784G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA12 Gly188Cys G188C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGA12 Val337Ile V337I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHGA2 Val471Ala V471A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA2 Leu759His L759H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHGA4 Asp683His D683H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PCDHGA5 Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGA6 Ser537Thr S537T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHGB1 Ser78Asn S78N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGC3 Gly219Arg G219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDP1 His157Arg H157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCF11 Gly1010Val G1010V not reviewed Insufficiently evaluated not reviewed unknown Array 21 9864 0.00212895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - PCK1 Asp41Gly D41G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - 4 Y 1 N - - PCK2 His510Gln H510Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PCK2 Gly586Arg G586R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PCLO Ser656Ala S656A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10074 0.00188604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCM1 Thr158Arg T158R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - PCM1 Ser460Gly S460G not reviewed Insufficiently evaluated not reviewed unknown Array 2 9830 0.000203458 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - PCM1 Asn1537Ile N1537I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9856 0.000202922 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.58 - - 7 Y 1 N - - PCM1 Arg1856Gln R1856Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 9436 0.000529885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCNT Asp47His D47H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.933 - - 3 - 2 N - - PCNT Ser149Cys S149C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PCNT Thr784Ala T784A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - - 1 - 0 N - - PCNT Gln905Arg Q905R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.105 - - 0 - 0 N - - PCNT Val1692Ile V1692I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.085 - - -4 - 0 N - - PCNT Glu1872Lys E1872K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10746 0.00186116 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.372 - - 0 - 1 N - - PCNT Val1894Ile V1894I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10436 0.000383288 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - - -4 - 0 N - - PCNT Lys2182Arg K2182R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.762 - - -3 - 1 N - - PCNT Thr2206Ala T2206A not reviewed Insufficiently evaluated not reviewed unknown Array rs9981448 99 10754 0.00920588 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.181 - - 1 - 0 N - - PCNT Ser2433Pro S2433P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PCNT Leu2434Ile L2434I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 - - -2 - 0 N - - PCNT Ala2903Pro A2903P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.085 - - 2 - 0 N - - PCNT Trp2907Arg W2907R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - - 7 Y 2 N - - PCNT Thr3018Met T3018M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 - - 2 - 2 N - - PCNX Ala1492Thr A1492T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCNXL2 Leu768Phe L768F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - PCNXL2 Thr454Ala T454A not reviewed Insufficiently evaluated not reviewed unknown Array rs10910120 648 9976 0.0649559 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.92 - - 1 - 1 N - - PCNXL2 Thr379Met T379M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - PCNXL3 Asp577Val D577V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.181 - - 8 Y 0 N - - PCNXL3 Arg578His R578H not reviewed Insufficiently evaluated not reviewed unknown Array rs61747472 75 10402 0.00721015 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 1 - 0 N - - PCNXL3 Val1277Ile V1277I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - PCOLCE Met392Leu M392L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.108 - - -3 - 0 N - - PCP2 Arg103Gln R103Q not reviewed Insufficiently evaluated not reviewed unknown Array 98 10722 0.00914009 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - PCSK1 Tyr724His Y724H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 Y - -1 - 3 N - - PCSK2 Thr354Ala T354A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PCSK4 His703Tyr H703Y not reviewed Insufficiently evaluated not reviewed unknown Array 345 10680 0.0323034 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 1 N - - PCSK4 Pro586Leu P586L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10750 0.000930232 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 7 Y 0 N - - PCSK5 Val467Met V467M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCSK6 Arg917Trp R917W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCSK6 Arg930Trp R930W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCSK9 Phe429Leu F429L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.064 Y - 0 - 1 N - - PCSK9 Arg549His R549H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10426 0.000287742 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - PCSK9 His553Arg H553R not reviewed Insufficiently evaluated not reviewed unknown Array rs28362270 35 10416 0.00336022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 1 - 4 - 8 - - PCSK9 Trp566Arg W566R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.907 Y - 7 Y 3 N - - PCYT1A Leu230Pro L230P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - PCYT1A Arg196Gly R196G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PCYT1B Thr33Arg T33R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDCD11 Lys316Arg K316R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - -3 - 2 N - - PDCD11 His572Arg H572R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.637 - - 1 - 1 N - - PDCD11 Arg964Cys R964C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - PDCD11 Thr1089Ile T1089I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - PDCD11 Arg1383Cys R1383C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - PDCD1LG2 Asp208Gly D208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.838 - - 4 Y 1 N - - PDCD2L Lys6Asn K6N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - PDDC1 Val124Ile V124I not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDE10A Thr603Ala T603A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE10A Thr613Ala T613A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE10A Leu179Pro L179P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.148 - - 7 Y 1 - 1 - - PDE10A Leu189Pro L189P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 3 - 1 - - PDE11A Asn116Ser N116S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Asn202Ser N202S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Asn310Ser N310S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE11A Asn560Ser N560S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.876 - - 0 - 2 N - - PDE12 Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE1B Asp162Asn D162N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - -1 - 1 N - - PDE3A Ser408Pro S408P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - PDE4A Trp415Arg W415R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDE4A Trp593Arg W593R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDE4A Trp628Arg W628R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDE4A Trp654Arg W654R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PDE4C Leu382Val L382V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Leu456Val L456V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Leu488Val L488V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PDE4C Asn278Ser N278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Asn352Ser N352S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Asn384Ser N384S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - PDE4DIP His2299Arg H2299R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PDE4DIP Ser2134Cys S2134C not reviewed Insufficiently evaluated not reviewed unknown Array 260 10750 0.024186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - PDE4DIP His2046Gln H2046Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - -1 - 2 N - - PDE4DIP Arg1590Gln R1590Q not reviewed Insufficiently evaluated not reviewed unknown Array 175 10750 0.0162791 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PDE4DIP Tyr1388His Y1388H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - PDE4DIP Thr1322Arg T1322R not reviewed Insufficiently evaluated not reviewed unknown Array 326 10750 0.0303256 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - PDE4DIP Ser1265Asn S1265N not reviewed Insufficiently evaluated not reviewed unknown Array rs6671551 185 10752 0.0172061 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - PDE4DIP Thr713Ile T713I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - PDE4DIP Thr876Ile T876I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4DIP Thr706Ser T706S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDE4DIP Thr869Ser T869S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDE4DIP Glu611Gly E611G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - PDE4DIP Glu774Gly E774G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE4DIP Arg571Cys R571C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - PDE4DIP Arg734Cys R734C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDE4DIP Glu391Ala E391A not reviewed Insufficiently evaluated not reviewed unknown Array rs1324366 230 10750 0.0213953 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - PDE4DIP Glu554Ala E554A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE4DIP Arg295Gly R295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - PDE4DIP Arg458Gly R458G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE4DIP Arg63Pro R63P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE5A Asn387Asp N387D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE5A Asn397Asp N397D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE5A Asn439Asp N439D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE6A Thr424Ala T424A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PDE6B Arg48Gln R48Q not reviewed Insufficiently evaluated not reviewed unknown Array 298 10758 0.0277003 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - PDE6B Pro125Ala P125A not reviewed Insufficiently evaluated not reviewed unknown Array rs28414606 172 10722 0.0160418 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 2 - 1 N - - PDE6B Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 1 - - PDE6B Asp307Asn D307N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - -1 - 3 N - - PDE7A Arg430Lys R430K not reviewed Insufficiently evaluated not reviewed unknown Array rs28515659 420 10758 0.0390407 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.861 - - -3 - 3 - 1 - - PDE8A Val717Ala V717A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE8A Val763Ala V763A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - PDE9A Ser114Gly S114G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser115Gly S115G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser130Gly S130G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - PDE9A Ser149Gly S149G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser156Gly S156G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser163Gly S163G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser175Gly S175G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser190Gly S190G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser216Gly S216G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser56Gly S56G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser82Gly S82G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser88Gly S88G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser89Gly S89G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE9A Ser9Gly S9G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - PDE9A Arg104His R104H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - PDE9A Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PDE9A Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PDE9A Arg152His R152H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg178His R178H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg197His R197H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg212His R212H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg21His R21H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg238His R238H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - PDE9A Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE9A Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDGFB Ile73Val I73V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDGFB Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array rs17565 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDGFRB Glu714Asp E714D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - PDGFRB Ser705Pro S705P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - PDGFRL Ala88Val A88V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - PDHA2 Glu331Lys E331K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.552 - - 0 - 1 N - - PDHX Gln233Glu Q233E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDHX Gln248Glu Q248E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - PDHX Ser279Cys S279C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDHX Ser294Cys S294C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PDIA3 Ala19Val A19V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10214 0.00264343 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.275 - - 2 - 1 N - - PDIA4 Ala194Pro A194P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 2 N - - PDIA6 Ala364Val A364V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDILT Val447Ile V447I not reviewed Insufficiently evaluated not reviewed unknown Array rs11865916 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDILT Leu280Pro L280P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - PDK1 His212Arg H212R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - PDLIM3 Val127Met V127M not reviewed Insufficiently evaluated not reviewed unknown Array rs11944325 368 10758 0.0342071 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - PDLIM4 Phe295Leu F295L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PDLIM5 Ala175Thr A175T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PDLIM5 Asn184Ser N184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDLIM5 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDLIM5 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDLIM5 Arg169His R169H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDLIM5 Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PDLIM7 Pro123Leu P123L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDPR Arg848Cys R848C not reviewed Insufficiently evaluated not reviewed unknown Array 92 10334 0.00890265 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PDSS1 Pro396Thr P396T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - 4 Y 1 N - - PDYN Thr238Ala T238A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - 1 - 1 N - - PDZD2 Pro226Thr P226T not reviewed Insufficiently evaluated not reviewed unknown Array rs34239074 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 4 Y 0 N - - PDZD2 His292Arg H292R not reviewed Insufficiently evaluated not reviewed unknown Array rs35992223 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 1 - 2 N - - PDZD2 Arg774Cys R774C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PDZD2 Pro1868Leu P1868L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.805 - - 7 Y 1 N - - PDZD2 Gln2275His Q2275H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - PDZD2 Ile2420Val I2420V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PDZD2 Val2529Ile V2529I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PDZD7 Asp483Asn D483N not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - -1 - 2 N - - PDZD8 Gln1049Stop Q1049X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDZD8 His803Gln H803Q not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 1 - - PDZD8 Arg361Gly R361G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.597 - - 6 Y 1 N - - PDZD8 Asp307Gly D307G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - PDZRN3 Ala804Val A804V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739231 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PDZRN3 Gly674Ser G674S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDZRN3 Tyr423Cys Y423C not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - PDZRN3 Gly257Ser G257S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 2 N - - PDZRN4 Lys219Arg K219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PEAR1 Leu411Pro L411P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - PEAR1 Gly913Arg G913R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 2 N - - PECI Asn219Ser N219S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PECI Asn356Ser N356S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PECI Lys21Arg K21R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PECR Val290Ala V290A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.835 - - 2 - 1 N - - PECR Thr69Ser T69S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PEG10 Trp657Arg W657R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PEG3 Glu1072Asp E1072D not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - PEG3 Glu946Asp E946D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PEG3 Glu948Asp E948D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.711 - - -2 - 1 N - - PEG3 Lys716Arg K716R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PEG3 Lys718Arg K718R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PEG3 Lys842Arg K842R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PEG3 Val667Ala V667A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PEG3 Val669Ala V669A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PEG3 Val793Ala V793A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PEG3 Ala657Val A657V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PEG3 Ala659Val A659V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PEG3 Ala783Val A783V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 2 - 1 - - PEG3 Gly600Arg G600R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PEG3 Gly602Arg G602R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PEG3 Gly726Arg G726R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - PEG3 Arg198Cys R198C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PEG3 Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PEG3 Arg324Cys R324C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PEMT Val11Ala V11A not reviewed Insufficiently evaluated not reviewed unknown Array rs7215880 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - PEPD His377Gln H377Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - - -1 - 2 N - - PER1 Ala1108Pro A1108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PER1 Ala998Thr A998T not reviewed Insufficiently evaluated not reviewed unknown Array 236 10710 0.0220355 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PER1 Arg994His R994H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10726 0.00484803 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PER1 Pro859Ala P859A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 3 - 1 - - PER1 Cys510Gly C510G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - PER2 Ser1097Gly S1097G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - PER2 Phe949Tyr F949Y not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.69 - - -4 - 2 - 4 - - PER3 Arg143Lys R143K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PER3 Asp169Gly D169G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PER3 Leu589Met L589M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PER3 Gln688Arg Q688R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PER3 Thr948Ala T948A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PER3 Glu1052Gln E1052Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PES1 Ala411Thr A411T not reviewed Insufficiently evaluated not reviewed unknown Array rs34123894 414 10758 0.038483 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PET112L Val169Ile V169I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PET112L Pro92Leu P92L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PET112L Thr52Ala T52A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - PEX1 Met695Thr M695T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 2 - 2 N - - PEX1 Trp507Cys W507C not reviewed Insufficiently evaluated not reviewed unknown Array 71 10424 0.0068112 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.782 Y Y 7 Y 3 N - - PEX1 Asn187Ser N187S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - PEX10 Lys41Arg K41R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -3 - 2 N - - PEX11A Lys245Arg K245R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - PEX16 Tyr291Stop Y291X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PEX5 Gln223Arg Q223R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PEX5 Gln260Arg Q260R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.963 Y Y 0 - 4 N - - PEX5 Gln275Arg Q275R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PEX6 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - PFAS Leu410Pro L410P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PFAS Leu650Met L650M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PFKFB2 Pro449Ser P449S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.699 - - 3 - 1 N - - PFKL Asp237Val D237V not reviewed Insufficiently evaluated not reviewed unknown Array rs1057037 966 10722 0.0900951 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.614 - - 8 Y 1 - 9 - - PFKP Tyr164Cys Y164C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.359 - - 6 Y 1 N - - PFKP Phe606Leu F606L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.439 - - 0 - 2 - 5 - - PFN1 Leu112Val L112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - 0 - 3 - 1 - - PFTK1 Ala374Thr A374T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PFTK2 His375Gln H375Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PGAM4 Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5959129 535 8603 0.0621876 7 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - PGAM4 Glu13Lys E13K not reviewed Insufficiently evaluated not reviewed unknown Array rs6622613 89 8755 0.0101656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 1 N - - PGAP1 Asn129Ser N129S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PGAP1 Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - PGAP1 Leu57Gln L57Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 5 Y 1 N - - PGBD1 Ser32Leu S32L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.349 - - 6 Y 2 - 1 - - PGBD1 Thr223Ile T223I not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGBD1 Leu311Val L311V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 2 - 1 - - PGBD1 Ile564Val I564V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.487 - - -4 - 1 N - - PGCP Ile204Val I204V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PGCP His248Arg H248R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PGDS Val187Ile V187I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PGDS Met128Thr M128T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - PGDS Ile91Val I91V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - PGLS Glu124Gly E124G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 6 Y 0 N - - PGLS Arg168Gly R168G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.708 - - 6 Y 1 N - - PGLYRP1 His170Arg H170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PGLYRP2 Thr257Asn T257N not reviewed Insufficiently evaluated not reviewed unknown Array rs28404490 396 10758 0.0368098 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PGLYRP2 Gln3Stop Q3X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PGLYRP3 His193Leu H193L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - PGM1 Leu177Val L177V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGM2 Ile185Thr I185T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PGM5 Arg516Gln R516Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 1 N - - PGR Ile783Met I783M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.874 - - -1 - 2 N - - PGR Gln682His Q682H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -1 - 0 N - - PGR Ile51Thr I51T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - 3 - 2 - 4 - - PGRMC2 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PHACTR3 Pro191Ser P191S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PHACTR3 Pro232Ser P232S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - PHACTR3 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PHACTR3 Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PHACTR3 Arg335Gln R335Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - PHACTR4 Thr27Pro T27P not reviewed Insufficiently evaluated not reviewed unknown Array rs4129914 142 9882 0.0143696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 4 Y 2 - 1 - - PHACTR4 Thr37Pro T37P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - PHEX Gly261Glu G261E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 3 N - - PHEX Thr639Asn T639N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 1 - 3 N - - PHEX Thr677Ala T677A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PHF12 Ala985Ser A985S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PHF12 Ile635Met I635M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - PHF14 Glu134Asp E134D not reviewed Insufficiently evaluated not reviewed unknown Array 1 9832 0.000101708 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHF17 Ala769Val A769V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - PHF19 Arg369Cys R369C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 8 Y 2 N - - PHF19 Gln180Stop Q180X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PHF20 His470Arg H470R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PHF20 Arg801Thr R801T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PHF8 Asn333Ser N333S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHGDH Ser371Asn S371N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - 0 - 1 N - - PHIP Cys245Arg C245R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PHKA1 Met927Ile M927I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - -1 - 3 N - - PHKA1 Asp572Asn D572N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - -1 - 1 N - - PHKB Gln497Arg Q497R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PHKB Gln504Arg Q504R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.793 Y - 0 - 2 N - - PHKB Tyr968His Y968H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PHKB Tyr975His Y975H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - -1 - 3 N - - PHKG1 Leu166Phe L166F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 0 - 2 N - - PHKG1 Lys119Gln K119Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - PHKG2 Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.019 Y - 2 - 1 N - - PHLDB2 Pro191Leu P191L not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 7 Y 0 N - - PHLDB2 Pro218Leu P218L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHLDB2 Pro191Arg P191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.186 - - 5 Y 0 N - - PHLDB2 Pro218Arg P218R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PHLDB3 Arg214Gln R214Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHLPP2 Asp1152Glu D1152E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PHLPP2 Gln928Arg Q928R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PHLPP2 Tyr259Cys Y259C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PHOX2B Glu114Asp E114D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.462 Y Y -2 - 3 N - - PHRF1 Gly633Ser G633S not reviewed Insufficiently evaluated not reviewed unknown Array 100 10198 0.00980584 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PHRF1 Leu790Ile L790I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHRF1 Ala1373Val A1373V not reviewed Insufficiently evaluated not reviewed unknown Array 877 10118 0.0866772 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PHTF1 Asn89Ser N89S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHYH Ser217Asn S217N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PHYH Ser317Asn S317N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - PHYH Gly115Ser G115S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PHYH Gly215Ser G215S not reviewed Insufficiently evaluated not reviewed unknown Array rs7901902 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 2 - 2 N - - PHYHD1 Ile36Thr I36T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - PHYHD1 Arg201Trp R201W not reviewed Insufficiently evaluated not reviewed unknown Array rs10988159 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 2 - - PHYHD1 Arg222Trp R222W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 2 - - PHYHD1 Ala292Asp A292D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PHYHIP Ser168Arg S168R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 3 - 1 - - PI16 Lys68Arg K68R not reviewed Insufficiently evaluated not reviewed unknown Array 181 10754 0.0168309 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - PI16 Ser296Gly S296G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.041 - - 2 - 0 N - - PI4KA Gln1374Arg Q1374R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - PI4KA Gln184Arg Q184R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PI4KA Glu163Asp E163D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIAS3 Ser595Arg S595R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - PIAS4 Ala124Thr A124T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIAS4 Cys342Trp C342W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - PIAS4 Asn430Ser N430S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10730 9.3196e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - PIBF1 Met73Thr M73T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - PIBF1 Glu200Gly E200G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 6 Y 1 N - - PIBF1 Tyr560Cys Y560C not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PICK1 Glu303Val E303V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 5 Y 1 N - - PIGG Trp497Arg W497R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIGG Trp505Arg W505R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 3 - 2 - - PIGG Pro535Arg P535R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PIGG Pro543Arg P543R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - PIGG Pro736Leu P736L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIGG Pro744Leu P744L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PIGK Phe383Leu F383L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 1 N - - PIGM Val346Met V346M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - PIGM Glu283Lys E283K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 1 N - - PIGN Gly472Asp G472D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PIGO Leu78Pro L78P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PIGP Glu118Gln E118Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIGP Glu142Gln E142Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.256 - - -2 - 1 N - - PIGP Leu18Trp L18W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - PIGT Pro577Leu P577L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 7 Y 0 N - - PIGU Phe246Ser F246S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 5 Y 2 N - - PIGU Ile162Val I162V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - PIGW Pro51Leu P51L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIGX Pro114Leu P114L not reviewed Insufficiently evaluated not reviewed unknown Array rs2291397 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - PIGZ Glu440Lys E440K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3AP1 Thr726Ile T726I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIK3C2A Cys908Phe C908F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 4 Y 0 N - - PIK3C2A His548Gln H548Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIK3C2A Thr314Ala T314A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PIK3C2B Thr1554Ala T1554A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3C2B Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3C2G Asp890Glu D890E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIK3CG His295Gln H295Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - PIK3CG Glu1062Lys E1062K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 0 - 1 N - - PIK3R1 Val172Met V172M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - PIK3R1 Lys346Arg K346R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.29 - - -3 - 2 - 1 - - PIK3R1 Lys46Arg K46R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PIK3R1 Lys76Arg K76R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PIK3R1 His400Arg H400R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3R1 His430Arg H430R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3R1 His700Arg H700R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 1 - 1 N - - PIK3R2 Gly28Ser G28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - PIK3R2 Val75Met V75M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - PIK3R2 Arg587Gln R587Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - PIK3R4 Ser1313Thr S1313T not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIK3R4 Ser190Pro S190P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PIK3R6 Ser609Pro S609P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIKFYVE Arg190His R190H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 1 - 2 N - - PILRA Ser22Gly S22G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PIN1 Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 1 - 1 - - PINK1 Ser284Tyr S284Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.605 Y Y 5 Y 3 N - - PINK1 Pro305Ala P305A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - PION Ile254Met I254M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - -1 - 0 N - - PION His161Gln H161Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 9534 0.000314663 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - -1 - 1 N - - PIP4K2A Asn80His N80H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.214 - - 0 - 1 N - - PIP4K2B Phe364Leu F364L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PIP4K2B Val312Gly V312G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PIP4K2C Leu237Pro L237P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIP4K2C Leu267Pro L267P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIP4K2C Leu285Pro L285P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIP4K2C Ala252Gly A252G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PIP4K2C Ala282Gly A282G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PIP4K2C Ala300Gly A300G not reviewed Insufficiently evaluated not reviewed unknown Array rs2277319 189 10758 0.0175683 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PIPOX Asp373Gly D373G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - PIR Val228Ala V228A not reviewed Insufficiently evaluated not reviewed unknown Array rs34104000 252 8761 0.0287638 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.267 - - 2 - 2 - 3 - - PISD Phe320Leu F320L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PITPNA His59Gln H59Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - PITPNB Lys54Glu K54E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PITPNM1 Ile1118Val I1118V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PITPNM1 Ile1119Val I1119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PITPNM1 Val532Met V532M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PITPNM3 Pro339Leu P339L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.037 Y - 7 Y 1 N - - PITRM1 Gly1017Arg G1017R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - PITRM1 Arg1007Ser R1007S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.407 - - 3 - 1 N - - PITRM1 Ser355Cys S355C not reviewed Insufficiently evaluated not reviewed unknown Array rs34854792 37 9700 0.00381443 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 1 N - - PIWIL2 Gln234Arg Q234R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIWIL3 Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - 1 - 0 N - - PIWIL3 Gln21His Q21H not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIWIL3 Gln21Stop Q21X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PIWIL4 Asn426Ser N426S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PJA2 Ser155Gly S155G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PJA2 Glu92Lys E92K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1 Val3663Ile V3663I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PKD1 Val3664Ile V3664I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y -4 - 4 N - - PKD1 Met1092Thr M1092T not reviewed Insufficiently evaluated not reviewed unknown Array rs2549677 962 6530 0.14732 5 0 7 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 3 - 3 - - PKD1 Asp962His D962H not reviewed Insufficiently evaluated not reviewed unknown Array 1 6174 0.000161969 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - PKD1L1 Glu2219Val E2219V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - PKD1L1 Tyr1667Cys Y1667C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - PKD1L1 Tyr1159His Y1159H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - PKD1L1 Thr1002Pro T1002P not reviewed Insufficiently evaluated not reviewed unknown Array 628 10758 0.0583752 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PKD1L1 Pro925Leu P925L not reviewed Insufficiently evaluated not reviewed unknown Array 703 10758 0.0653467 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.94 - - 7 Y 1 N - - PKD1L1 Ser889Leu S889L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - PKD1L1 Thr879Ala T879A not reviewed Insufficiently evaluated not reviewed unknown Array rs11972142 612 10758 0.0568879 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - PKD1L1 Leu653Arg L653R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 6 Y 0 N - - PKD1L2 Ile2405Leu I2405L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKD1L2 Arg2347Trp R2347W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Leu2333Met L2333M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PKD1L2 Thr2221Asn T2221N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Thr2145Pro T2145P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD1L2 Asn1702Lys N1702K not reviewed Insufficiently evaluated not reviewed unknown Array 4 9874 0.000405104 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Ala1676Thr A1676T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9982 0.000400721 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Pro1644Leu P1644L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Val1228Leu V1228L not reviewed Insufficiently evaluated not reviewed unknown Array rs73585028 159 10250 0.0155122 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Ser1103Gly S1103G not reviewed Insufficiently evaluated not reviewed unknown Array 154 10538 0.0146138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L2 Pro1086Thr P1086T not reviewed Insufficiently evaluated not reviewed unknown Array 157 10608 0.0148001 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD1L2 Gly1081Val G1081V not reviewed Insufficiently evaluated not reviewed unknown Array rs16954794 158 10592 0.0149169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - PKD1L2 Val770Leu V770L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Val444Ala V444A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L2 Gly197Arg G197R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10018 9.982e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKD1L2 Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L3 Asn1240Ser N1240S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L3 Leu1102Val L1102V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L3 Arg865Gly R865G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKD1L3 Gly293Asp G293D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD2L1 Ala788Asp A788D not reviewed Insufficiently evaluated not reviewed unknown Array rs12782963 658 10758 0.0611638 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 4 - - PKD2L1 Met555Ile M555I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - PKDREJ Asp1981Glu D1981E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - -2 - 2 N - - PKDREJ Thr1863Met T1863M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.562 - - 2 - 1 N - - PKDREJ His1294Arg H1294R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 1 - 2 N - - PKDREJ Thr1286Ile T1286I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - PKDREJ Thr1125Ala T1125A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 1 - 2 N - - PKDREJ Trp1114Gly W1114G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PKDREJ Val339Ala V339A not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 2 - 2 N - - PKHD1 Val3705Ile V3705I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PKHD1 Gly3511Arg G3511R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PKHD1 Met2841Val M2841V not reviewed Insufficiently evaluated not reviewed unknown Array 98 10756 0.00911119 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - PKHD1 Asn1617Asp N1617D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PKHD1 His1568Tyr H1568Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PKHD1 Ala1260Val A1260V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PKHD1 Asn54Asp N54D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PKHD1L1 Phe256Leu F256L not reviewed Insufficiently evaluated not reviewed unknown Array rs73309421 286 9316 0.0306999 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.761 - - 0 - 1 N - - PKHD1L1 Asn1005Ser N1005S not reviewed Insufficiently evaluated not reviewed unknown Array rs73307391 391 9566 0.0408739 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKHD1L1 Glu1868Lys E1868K not reviewed Insufficiently evaluated not reviewed unknown Array 126 9984 0.0126202 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PKHD1L1 Val1957Ile V1957I not reviewed Insufficiently evaluated not reviewed unknown Array 96 10148 0.00945999 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PKHD1L1 Ser2816Leu S2816L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKMYT1 Arg477Gly R477G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 6 Y 1 N - - PKMYT1 Arg457Trp R457W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10662 0.000281373 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.887 - - 7 Y 2 N - - PKMYT1 Gln227Leu Q227L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - PKN2 Asn316Ser N316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - PKP1 Lys260Asn K260N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 1 - 2 - 3 - - PKP2 Thr754Ala T754A not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PKP2 Thr798Ala T798A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PKP2 Val546Ala V546A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PKP2 Val590Ala V590A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PKP2 Gly489Arg G489R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 7 - - PKP3 Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - PKP3 Arg182Cys R182C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10682 0.00140423 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PKP3 Arg379Cys R379C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10724 0.000279746 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PKP3 Ala583Thr A583T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10040 0.000199203 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKP3 Ile679Thr I679T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - PKP4 Asn165Asp N165D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PKP4 Tyr478Cys Y478C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLA1A Pro281Leu P281L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PLA1A Cys296Tyr C296Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - PLA1A Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G2D Glu2Lys E2K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 8 - - PLA2G3 Glu412Lys E412K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - PLA2G3 Pro313Arg P313R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 5 Y 2 N - - PLA2G3 Thr215Ala T215A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PLA2G4B Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLA2G4B Gly135Ser G135S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLA2G4C Asn316Lys N316K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4C Asn326Lys N326K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4D Pro516Arg P516R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - PLA2G4D Leu134Met L134M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -3 - 2 N - - PLA2G4F Ile401Leu I401L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - PLA2G6 Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array rs11570605 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PLA2R1 Thr985Lys T985K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - PLA2R1 Arg887Cys R887C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 8 Y 0 N - - PLA2R1 Thr465Ile T465I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - PLA2R1 Ala301Thr A301T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 1 N - - PLAC4 Ser20Stop S20X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10680 0.000374531 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLAC9 Met52Leu M52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - -3 - 1 N - - PLAT Val107Glu V107E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 5 Y 3 - 1 - - PLAT Val61Glu V61E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - PLB1 Ser64Cys S64C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - PLB1 Ser526Phe S526F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - PLB1 Lys602Arg K602R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - -3 - 0 N - - PLB1 Ser640Leu S640L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - PLB1 Gln982Lys Q982K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - PLB1 Glu1414Lys E1414K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PLBD1 Val174Leu V174L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLBD2 Ala360Pro A360P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCB1 His937Arg H937R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PLCB3 Asn48Ser N48S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - PLCB3 Glu294Gly E294G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - PLCB3 Gly1218Arg G1218R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10258 9.7484e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PLCD1 Val663Leu V663L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCD1 Val684Leu V684L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCE1 Thr1742Ala T1742A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PLCE1 Lys2173Arg K2173R not reviewed Insufficiently evaluated not reviewed unknown Array 26 9768 0.00266175 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.921 Y - -3 - 3 N - - PLCG1 Ser279Gly S279G not reviewed Insufficiently evaluated not reviewed unknown Array rs2228246 1509 10758 0.140268 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLCG2 Leu294Met L294M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - -3 - 0 N - - PLCH1 Thr590Ala T590A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCH1 Thr608Ala T608A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PLCH2 Arg1083Trp R1083W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLCH2 Val1120Met V1120M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCH2 Ala1208Asp A1208D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLCH2 Val1335Leu V1335L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCL1 Leu1064Pro L1064P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 Y - 7 Y 3 N - - PLCL1 Leu966Pro L966P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 7 Y 2 N - - PLCL2 Asp709Gly D709G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLCL2 Thr829Ala T829A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCXD3 Asp107Asn D107N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLD1 Val1024Ile V1024I not reviewed Insufficiently evaluated not reviewed unknown Array rs9827333 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 2 - 1 - - PLD1 Val986Ile V986I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - PLD1 Glu826Stop E826X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 2 N - - PLD1 Glu864Stop E864X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 2 N - - PLD1 Pro49Ala P49A not reviewed Insufficiently evaluated not reviewed unknown Array rs9819927 89 10758 0.00827291 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 2 - 0 N - - PLD2 Val70Leu V70L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.531 - - 0 - 1 N - - PLD2 Ala788Gly A788G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - PLD3 Tyr472Cys Y472C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PLD5 Thr413Ala T413A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLDN Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - PLEC1 Ala4436Thr A4436T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala4446Thr A4446T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala4454Thr A4454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala4468Thr A4468T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala4472Thr A4472T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala4495Thr A4495T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala4605Thr A4605T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr4370Arg T4370R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr4380Arg T4380R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr4388Arg T4388R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr4402Arg T4402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr4406Arg T4406R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr4429Arg T4429R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr4539Arg T4539R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLEC1 Thr3363Ala T3363A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr3373Ala T3373A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr3381Ala T3381A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr3395Ala T3395A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr3399Ala T3399A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr3422Ala T3422A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Thr3532Ala T3532A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Glu3208Lys E3208K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Glu3218Lys E3218K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Glu3226Lys E3226K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Glu3240Lys E3240K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Glu3244Lys E3244K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Glu3267Lys E3267K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Glu3377Lys E3377K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PLEC1 Ser3065Stop S3065X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Ser3075Stop S3075X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Ser3083Stop S3083X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Ser3097Stop S3097X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Ser3101Stop S3101X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Ser3124Stop S3124X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Ser3234Stop S3234X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PLEC1 Val2396Gly V2396G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEC1 Val2406Gly V2406G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEC1 Val2414Gly V2414G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEC1 Val2428Gly V2428G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEC1 Val2432Gly V2432G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEC1 Val2455Gly V2455G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEC1 Val2565Gly V2565G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PLEKHA1 Lys72Arg K72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - -3 - 1 N - - PLEKHA4 Arg610His R610H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 2 N - - PLEKHA4 Leu412Pro L412P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHA4 Leu437Pro L437P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - PLEKHA4 Arg91Cys R91C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 8 Y 2 N - - PLEKHA5 Asp809Gly D809G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHA5 Asp820Gly D820G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - PLEKHA6 Asp1041Asn D1041N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - -1 - 1 N - - PLEKHA7 Glu859Ala E859A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - 3 - 1 N - - PLEKHA7 Ile607Val I607V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEKHA7 Thr454Met T454M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10690 9.3545e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - PLEKHA9 Glu217Lys E217K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHA9 Asn200Ser N200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHA9 Lys156Glu K156E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHB2 Gln172Pro Q172P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHB2 Gln173Pro Q173P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - PLEKHG1 Glu642Asp E642D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PLEKHG1 Arg981Gln R981Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PLEKHG2 Arg1267His R1267H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - PLEKHG3 Thr487Ile T487I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHG3 Arg1008His R1008H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG4B Ser39Asn S39N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PLEKHG4B Val163Met V163M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - PLEKHG4B Leu482Pro L482P not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - PLEKHG4B Val1061Ile V1061I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - PLEKHG4B Arg1269His R1269H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10736 0.00223547 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.079 - - 1 - 0 N - - PLEKHG5 Thr797Met T797M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHG5 Thr853Met T853M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 2 N - - PLEKHG5 Thr874Met T874M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHG5 Pro575Arg P575R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEKHG5 Pro631Arg P631R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - PLEKHG5 Pro652Arg P652R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEKHG5 Thr347Pro T347P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHG5 Thr403Pro T403P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - PLEKHG5 Thr424Pro T424P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHG5 Val22Met V22M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG5 Val78Met V78M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - PLEKHG5 Val99Met V99M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG6 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG6 Arg243Gln R243Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG6 Arg275Gln R275Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.916 - - 0 - 2 N - - PLEKHG7 Met270Ile M270I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - PLEKHG7 Leu320Pro L320P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - 7 Y 1 N - - PLEKHH1 Pro235Ser P235S not reviewed Insufficiently evaluated not reviewed unknown Array 17 9892 0.00171856 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PLEKHH2 Val29Ile V29I not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PLEKHH2 Gln108Stop Q108X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLEKHH2 Ala578Val A578V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PLEKHH2 Pro1159Gln P1159Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 4 Y 2 N - - PLEKHH2 Ala1427Val A1427V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PLEKHM2 Val82Leu V82L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - 0 - 0 N - - PLEKHM3 Ile323Val I323V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10228 0.000195541 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEKHN1 Leu66Val L66V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - PLEKHN1 Pro322Leu P322L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHN1 Pro334Leu P334L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHN1 Ser404Asn S404N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHN1 Ser439Asn S439N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHO1 Arg285His R285H not reviewed Insufficiently evaluated not reviewed unknown Array 183 10742 0.0170359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHO2 Pro290Ala P290A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 1 - 2 - - PLIN Asp178Asn D178N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - PLK2 Gln552Pro Q552P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLK3 Lys316Asn K316N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 3 - 1 - - PLK3 Pro336Thr P336T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - PLK4 Asn425Ser N425S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLK4 Thr865Ala T865A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLOD1 Ala84Pro A84P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.463 Y Y 2 - 3 N - - PLOD1 Glu528Lys E528K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 0 - 2 N - - PLOD2 Glu305Asp E305D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.926 Y - -2 - 3 N - - PLOD3 His586Arg H586R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 3 - 1 - - PLOD3 Asp190Glu D190E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - -2 - 1 N - - PLP2 Thr122Met T122M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.346 - - 2 - 2 - 1 - - PLRG1 Asp424Val D424V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - 8 Y 0 N - - PLRG1 Ser310Pro S310P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.76 - - 3 - 1 N - - PLRG1 Leu196Phe L196F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - PLS1 Ile146Met I146M not reviewed Insufficiently evaluated not reviewed unknown Array rs35710125 220 10758 0.0204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PLSCR1 Thr218Ile T218I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - PLTP Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLTP Arg328Trp R328W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - PLTP Asp112Val D112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PLVAP Ala438Val A438V not reviewed Insufficiently evaluated not reviewed unknown Array rs36074897 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PLVAP Ala347Val A347V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - PLXDC1 Leu436Pro L436P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - PLXDC1 Met179Thr M179T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PLXDC1 Val135Leu V135L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - PLXDC2 His508Asn H508N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PLXNA2 Gln57Arg Q57R not reviewed Insufficiently evaluated not reviewed unknown Array rs11119014 587 10758 0.054564 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLXNA4 Gln1108Arg Q1108R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - 0 - 1 N - - PLXNA4 Ala481Glu A481E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNA4 Asn92Ser N92S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - PLXNB1 Pro396Ser P396S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PLXNB2 Lys1384Asn K1384N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - PLXNB2 Thr334Pro T334P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - PLXNB3 Ser1104Asn S1104N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - PLXNC1 His489Asp H489D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - PLXNC1 Asp1045Glu D1045E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.122 - - -2 - 0 N - - PLXND1 Arg1899Gln R1899Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXND1 Ser1542Ile S1542I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 5 - - PLXND1 Asp904Glu D904E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PM20D1 Ala299Val A299V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - PMFBP1 Glu703Lys E703K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMFBP1 Glu848Lys E848K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMFBP1 Lys203Asn K203N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PMFBP1 Lys348Asn K348N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - PMFBP1 Cys156Arg C156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PMFBP1 Cys301Arg C301R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PML Ala501Thr A501T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PML Ala549Thr A549T not reviewed Insufficiently evaluated not reviewed unknown Array rs11855663 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PML Ala580Thr A580T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PML Ala628Thr A628T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 1 - 1 N - - PML Ser724Arg S724R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - PML Ser772Arg S772R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - PML Gly732Asp G732D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - PML Gly780Asp G780D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - PMP2 Asn60Thr N60T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PMP2 Asn60Ile N60I not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 7 Y 1 N - - PMP22 Thr44Ala T44A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.489 Y Y 1 - 4 - 1 - - PMPCA Val55Ala V55A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 Y Y 2 - 2 N - - PMS1 Asn654Asp N654D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PMS1 Asn693Asp N693D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - PMS1 Tyr765Cys Y765C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PMS1 Tyr888Cys Y888C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PMS1 Tyr927Cys Y927C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 6 Y 1 N - - PMS2 Gln567Arg Q567R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.427 Y Y 0 - 3 N - - PMS2 Arg427His R427H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - PNKD Tyr315Ser Y315S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PNKD Tyr339Ser Y339S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 4 N - - PNLIP Asp193Asn D193N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - PNLIP Met414Lys M414K not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PNLIPRP3 Leu2Phe L2F not reviewed Insufficiently evaluated not reviewed unknown Array rs10885929 327 10754 0.0304073 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 1 - 2 - - PNMA1 Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNMA2 Leu46Gln L46Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - PNMAL1 Gln129Arg Q129R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - PNMAL1 Asp20Glu D20E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - PNMAL2 Met58Val M58V not reviewed Insufficiently evaluated not reviewed unknown Array 74 10598 0.00698245 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNMT Ile133Val I133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - PNMT Thr203Arg T203R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.612 - - 3 - 1 N - - PNPLA1 Cys194Arg C194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PNPLA1 Cys203Arg C203R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PNPLA1 Cys289Arg C289R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PNPLA3 Phe187Leu F187L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - PNPLA5 Pro370Leu P370L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PNPLA6 Leu194Pro L194P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - PNPLA6 Arg394Ser R394S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA6 Gln1163His Q1163H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PNPLA7 Arg1206Cys R1206C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PNPLA7 Arg1231Cys R1231C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PNPLA7 Thr1136Ala T1136A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA7 Thr1161Ala T1161A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA7 Gly931Ala G931A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA7 Gly956Ala G956A not reviewed Insufficiently evaluated not reviewed unknown Array 98 10668 0.00918635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA7 Arg784Trp R784W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA7 Arg809Trp R809W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA7 Ser555Pro S555P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA7 Ser580Pro S580P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA7 Phe498Leu F498L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Phe523Leu F523L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Glu367Lys E367K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA7 Glu392Lys E392K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10680 0.000561797 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNPLA8 Gln729Arg Q729R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - PNPLA8 Leu313Val L313V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.365 - - 0 - 1 N - - PNPT1 Phe66Ser F66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.869 - - 5 Y 2 N - - PNPT1 Leu33Ser L33S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - PODN Val54Ala V54A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PODN Glu89Lys E89K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 0 - 1 N - - PODN Val520Gly V520G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - PODXL Glu485Asp E485D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PODXL Glu517Asp E517D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POF1B Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - POLD1 Ser173Asn S173N not reviewed Insufficiently evaluated not reviewed unknown Array rs1726803 362 10758 0.0336494 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 1 - 10 - - POLD1 Arg1086Gln R1086Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10742 0.00074474 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 1 - 2 - - POLD2 Leu342Stop L342X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POLD2 Gly156Val G156V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - POLDIP3 Thr383Met T383M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLDIP3 Thr412Met T412M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 2 - 1 N - - POLE Asn1921Lys N1921K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - POLE Arg1471His R1471H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - POLE Arg1382Cys R1382C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 3 - 1 - - POLE Val1301Met V1301M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLH Arg81Cys R81C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.842 - Y 8 Y 2 N - - POLI Asn315Asp N315D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLI Arg417Gln R417Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLK Asp189Gly D189G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - POLK Pro234Thr P234T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.624 - - 4 Y 2 - 2 - - POLK Asp708His D708H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 3 - 1 N - - POLM Val301Met V301M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10742 0.000837832 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - POLM Val246Phe V246F not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 5 - - POLN Leu641Pro L641P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - POLN Val305Met V305M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLN Arg253Cys R253C not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - POLN Glu182Lys E182K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 2 - 1 - - POLN Asp177Tyr D177Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 7 Y 1 N - - POLN Val34Ala V34A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 2 - 1 - - POLQ Asp1784Tyr D1784Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61734794 234 10758 0.0217513 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLQ Phe1494Leu F1494L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLQ Pro1056Leu P1056L not reviewed Insufficiently evaluated not reviewed unknown Array rs34778629 229 10756 0.0212904 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLQ Met680Lys M680K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLR1A Tyr1654Stop Y1654X not reviewed Insufficiently evaluated not reviewed unknown Array 33 10120 0.00326087 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POLR1D Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR1E Arg22Lys R22K not reviewed Insufficiently evaluated not reviewed unknown Array 75 10754 0.00697415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POLR1E Ser269Asn S269N not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLR2A Asn764Lys N764K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 5 - - POLR2A Thr1164Ala T1164A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 2 N - - POLR2E Ser44Tyr S44Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 7 - - POLR2G Phe2Leu F2L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - POLR2H Ser32Gly S32G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.353 - - 2 - 1 N - - POLR2H Asp71Tyr D71Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - POLR2L Asp33Glu D33E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - POLR3A Lys294Glu K294E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLR3A Phe197Leu F197L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLR3B Tyr800Cys Y800C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR3B Tyr858Cys Y858C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR3C Gln371Glu Q371E not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - POLR3C Glu74Gly E74G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.836 - - 6 Y 1 N - - POLR3E Phe360Leu F360L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - POLRMT Arg39Trp R39W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10432 0.000287576 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - POLRMT Pro38Ser P38S not reviewed Insufficiently evaluated not reviewed unknown Array rs12610885 869 10406 0.0835095 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 4 - - POLS Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POMT1 Ala502Val A502V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - POMT1 Ala565Val A565V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - POMT1 Ala619Val A619V not reviewed Insufficiently evaluated not reviewed unknown Array rs12115566 184 10758 0.0171035 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - POMT1 Ala641Val A641V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - POMT2 Ala630Ser A630S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - POMT2 Ala54Glu A54E not reviewed Insufficiently evaluated not reviewed unknown Array rs8177536 306 10252 0.0298478 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 3 - 2 - 1 - - PON1 Lys151Arg K151R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PON2 Val160Leu V160L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PON2 Val172Leu V172L not reviewed Insufficiently evaluated not reviewed unknown Array rs17876152 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PON3 Glu146Lys E146K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 0 - 2 - 2 - - PON3 Asp80Ala D80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.499 - - 5 Y 1 N - - POP1 Lys522Asn K522N not reviewed Insufficiently evaluated not reviewed unknown Array rs17184326 1679 10758 0.15607 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POPDC3 Ser132Asn S132N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 1 N - - POPDC3 Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11961225 427 10758 0.0396914 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - POR His322Gln H322Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 1 - - POSTN Pro569Leu P569L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POSTN Thr339Ile T339I not reviewed Insufficiently evaluated not reviewed unknown Array rs9594223 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - POTEB Lys544Gln K544Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - POU1F1 Thr73Ser T73S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - POU2F2 Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - POU4F2 Asn395Ser N395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPA2 Arg135Cys R135C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPA2 Arg199Cys R199C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPA2 Arg272Cys R272C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPA2 Arg283Cys R283C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPA2 Arg301Cys R301C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPAN-P2RY11 Ser586Gly S586G not reviewed Insufficiently evaluated not reviewed unknown Array 21 10738 0.00195567 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPAP2C Ala124Glu A124E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 8 - - PPAP2C Ala124Gly A124G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - PPAP2C Ala180Glu A180E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 8 - - PPAP2C Ala180Gly A180G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - PPAP2C Ala201Glu A201E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 8 - - PPAP2C Ala201Gly A201G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 8 - - PPARA Asp140Asn D140N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 1 - 2 - - PPARG Ile281Thr I281T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PPARG Ile309Thr I309T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.899 Y - 3 - 3 N - - PPARGC1A Leu410Ile L410I not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - PPARGC1B Asp101Glu D101E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPAT Val277Ala V277A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPEF2 Arg92Ser R92S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.744 - - 3 - 1 N - - PPEF2 Arg86His R86H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PPFIA4 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPFIBP1 Cys436Arg C436R not reviewed Insufficiently evaluated not reviewed unknown Array rs35670331 210 10754 0.0195276 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - PPFIBP1 Leu940Ser L940S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPFIBP2 Arg281His R281H not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 2 N - - PPFIBP2 Arg298Cys R298C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PPFIBP2 Pro787Leu P787L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 7 Y 0 N - - PPFIBP2 Pro804Ala P804A not reviewed Insufficiently evaluated not reviewed unknown Array 900 10758 0.0836587 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 1 N - - PPIC Asn136Lys N136K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PPIE Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 3 - 9 - - PPIE Met67Thr M67T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PPIG Ser658Cys S658C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPIL1 Gln81His Q81H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - PPIL2 Lys188Arg K188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - PPIL6 Asn200Asp N200D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPIL6 Asn232Asp N232D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.259 - - -1 - 1 N - - PPIL6 Phe152Ser F152S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPIL6 Phe184Ser F184S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - PPL Gly119Arg G119R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - PPM1B Gln30Leu Q30L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - PPM1D Thr501Ala T501A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - PPM1E Phe585Leu F585L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPM1J Arg479His R479H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PPM1J Gly138Glu G138E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - PPM1K Asp290Gly D290G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - PPM1K Thr161Ala T161A not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - PPP1CB Gln67His Q67H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 3 - 3 - - PPP1CB Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - -4 - 0 N - - PPP1R10 Asp106Gly D106G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - PPP1R12A Glu741Asp E741D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - PPP1R12A Glu828Asp E828D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - PPP1R12B Arg500Gln R500Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R12B Glu510Gly E510G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP1R12B Arg26Trp R26W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - PPP1R12B Arg800Trp R800W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - PPP1R12C Arg419Cys R419C not reviewed Insufficiently evaluated not reviewed unknown Array rs35849605 311 10698 0.0290709 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - PPP1R13B Gly844Glu G844E not reviewed Insufficiently evaluated not reviewed unknown Array rs35098798 164 10266 0.0159751 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP1R13B Gly422Ser G422S not reviewed Insufficiently evaluated not reviewed unknown Array 29 9952 0.00291399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP1R13L Val479Ala V479A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - PPP1R13L Glu260Lys E260K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R14D Ser90Stop S90X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PPP1R15A Arg508Gln R508Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - PPP1R15A Arg557His R557H not reviewed Insufficiently evaluated not reviewed unknown Array 121 10752 0.0112537 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R15B Ser629Cys S629C not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - PPP1R1B Gly140Glu G140E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP1R1B Gly176Glu G176E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - PPP1R3C Asp115Glu D115E not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - PPP1R3F Asp593Gly D593G not reviewed Insufficiently evaluated not reviewed unknown Array 51 8760 0.00582192 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PPP1R3F Gly683Asp G683D not reviewed Insufficiently evaluated not reviewed unknown Array 52 8757 0.00593811 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP1R9A Ser39Thr S39T not reviewed Insufficiently evaluated not reviewed unknown Array 371 10758 0.034486 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPP1R9B Pro310Ala P310A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP2R1A Arg157Pro R157P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.749 - - 5 Y 1 N - - PPP2R2B Lys113Arg K113R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.472 Y Y -3 - 3 N - - PPP2R2B Lys122Arg K122R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - PPP2R2B Lys133Arg K133R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - PPP2R2B Lys136Arg K136R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - PPP2R3A Leu160Ser L160S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 1 N - - PPP2R3A Pro370Arg P370R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - PPP2R3A Arg711Gln R711Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35250006 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - PPP2R3A Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R3A Glu348Gly E348G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP2R3A Glu969Gly E969G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - PPP2R3A Phe1125Ser F1125S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP2R3A Phe504Ser F504S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP2R4 Asp187Asn D187N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP2R4 Asp229Asn D229N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP2R4 Asp264Asn D264N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - PPP2R5C Thr106Ala T106A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - PPP3CA Phe96Leu F96L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - PPP3CC Ala441Asp A441D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP3R2 Asp162Gly D162G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP4R1 Asn364Ser N364S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP4R1 Asn381Ser N381S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP4R2 Ser226Gly S226G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - PPP4R4 Pro41Ser P41S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - PPP4R4 Tyr432His Y432H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPT1 Ile190Leu I190L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PPT1 Ile87Leu I87L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PPWD1 Glu20Gly E20G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - PPWD1 Cys185Arg C185R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - PPWD1 Thr200Ala T200A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - PPWD1 His255Tyr H255Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PPWD1 Tyr274Cys Y274C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - PPYR1 Tyr238His Y238H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - PRAGMIN Cys288Trp C288W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - PRAM1 Ala527Val A527V not reviewed Insufficiently evaluated not reviewed unknown Array rs73499680 474 10094 0.0469586 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRAM1 Gln251Arg Q251R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10450 9.5693e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRAM1 Gly135Glu G135E not reviewed Insufficiently evaluated not reviewed unknown Array rs58466313 1305 9282 0.140595 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRAME Met360Leu M360L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - -3 - 0 N - - PRAMEF2 Ser68Trp S68W not reviewed Insufficiently evaluated not reviewed unknown Array rs17038657 330 10748 0.0307034 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PRAMEF2 Cys242Arg C242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PRAP1 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - PRB1 Pro113Ser P113S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRC1 Lys447Glu K447E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PRC1 Gln129Arg Q129R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - PRCC Pro48Gln P48Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PRCC Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - PRCP Thr444Ser T444S not reviewed Insufficiently evaluated not reviewed unknown Array 229 10756 0.0212904 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 4 - - PRCP Thr465Ser T465S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - PRCP Val222Ala V222A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.72 - - 2 - 1 N - - PRCP Val243Ala V243A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM10 Leu846Pro L846P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM10 Leu850Pro L850P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM10 Leu932Pro L932P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM10 Leu936Pro L936P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM10 Glu670Gln E670Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM10 Glu674Gln E674Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM10 Glu756Gln E756Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM10 Glu760Gln E760Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM12 His34Asn H34N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - PRDM13 Gly663Asp G663D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM14 Ser390Pro S390P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM14 Asp91His D91H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.812 - - 3 - 1 N - - PRDM15 Lys276Asn K276N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM15 Lys605Asn K605N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - PRDM15 Leu249His L249H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRDM15 Leu578His L578H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 6 Y 2 N - - PRDM16 Ala1051Thr A1051T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9894 0.000303214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM2 Gln162Leu Q162L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRDM2 Gln363Leu Q363L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PRDM2 Ser249Asn S249N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PRDM2 Ser450Asn S450N not reviewed Insufficiently evaluated not reviewed unknown Array rs17350795 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 1 - 3 - - PRDM2 Thr740Ile T740I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM2 Thr941Ile T941I not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PRDM9 Pro197Leu P197L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDX2 Ala174Pro A174P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - PRDX3 Lys223Stop K223X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRDX3 Lys241Stop K241X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRDX6 Asp183Val D183V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PREB Val338Met V338M not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - 0 - 0 N - - PREB Arg246Gly R246G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PREPL Lys555Arg K555R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PREPL Lys559Arg K559R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PREPL Lys621Arg K621R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.366 - - -3 - 1 N - - PREPL Leu363Pro L363P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 7 Y 1 N - - PREX1 Met1208Thr M1208T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - PREX1 Gly881Ser G881S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PREX1 Arg724His R724H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - PREX2 Thr706Ser T706S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738008 315 10758 0.0292805 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - PREX2 Ile1218Val I1218V not reviewed Insufficiently evaluated not reviewed unknown Array rs61753702 569 10758 0.0528909 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRG2 Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRG4 Ser115Phe S115F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 - - 5 Y 3 - 1 - - PRG4 Ser156Phe S156F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - PRG4 Ser208Phe S208F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - PRG4 Ser249Phe S249F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.945 - - 5 Y 2 N - - PRHOXNB Arg24Gly R24G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 2 N - - PRIC285 Gln2061Arg Q2061R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Gln2630Arg Q2630R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg1454His R1454H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Arg2023His R2023H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Cys1081Arg C1081R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRIC285 Cys1650Arg C1650R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRIC285 Arg1473His R1473H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Arg904His R904H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRIC285 Arg395Gln R395Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIC285 Arg964Gln R964Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRICKLE2 His811Gln H811Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - PRIM2 Arg387His R387H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRKAB1 Lys195Arg K195R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRKAB2 Val134Ala V134A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - PRKACA Leu42His L42H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRKACA Leu50His L50H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PRKACG Lys309Arg K309R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRKAR1B Ile40Val I40V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732492 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRKAR1B Ile40Phe I40F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKAR2A Glu326Lys E326K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - PRKAR2B Ala397Thr A397T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRKCD Glu373Asp E373D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - PRKCDBP Leu255Phe L255F not reviewed Insufficiently evaluated not reviewed unknown Array rs12294600 743 10758 0.0690649 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 0 N - - PRKCSH Leu3Ser L3S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PRKCSH Lys59Thr K59T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 3 - 1 N - - PRKCSH Ala291Pro A291P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - PRKD1 Asn886Ser N886S not reviewed Insufficiently evaluated not reviewed unknown Array rs45585836 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRKD1 Ile734Met I734M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRKDC Lys1057Thr K1057T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRKDC Thr605Ser T605S not reviewed Insufficiently evaluated not reviewed unknown Array rs8178033 244 9620 0.0253638 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - PRKDC Ala6Ser A6S not reviewed Insufficiently evaluated not reviewed unknown Array rs8177999 149 7082 0.0210393 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 5 - - PRKG1 Val315Ala V315A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 2 - 0 N - - PRKG1 Val330Ala V330A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKG2 Ser630Gly S630G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 2 - 0 N - - PRKRA Asp33Gly D33G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PRKRA Asp47Gly D47G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PRKRA Asp58Gly D58G not reviewed Insufficiently evaluated not reviewed unknown Array 349 10758 0.032441 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.935 Y - 4 Y 3 N - - PRLH Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRMT10 Ser567Pro S567P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRMT10 Gln555Arg Q555R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - PRMT10 Ser542Gly S542G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRMT10 Pro511Leu P511L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.174 - - 7 Y 0 N - - PRMT3 Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRMT3 Val263Ile V263I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRMT3 Val325Ile V325I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - -4 - 0 N - - PRMT7 Asp546Glu D546E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -2 - 2 N - - PRODH2 Ala474Val A474V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.52 Y - 2 - 2 N - - PROK1 Met10Leu M10L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 0 N - - PROKR1 Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - PROM1 Lys731Arg K731R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - PROM1 Lys740Arg K740R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.977 Y - -3 - 3 N - - PROM1 Phe538Ile F538I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PROM1 Phe547Ile F547I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.883 Y - 2 - 3 N - - PROM1 Tyr119Cys Y119C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PROM1 Tyr128Cys Y128C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9706 0.000309087 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PROM1 Cys103Tyr C103Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PROM1 Cys112Tyr C112Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 9710 0.000308959 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - PROM2 Gln508Leu Q508L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.826 - - 5 Y 2 - 4 - - PROM2 Gln508Pro Q508P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.87 - - 4 Y 3 - 4 - - PROP1 Gly51Ala G51A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233783 357 10742 0.033234 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 3 - 5 - - PROSAPIP1 Gly262Ser G262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PROX1 Arg280Pro R280P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - PROZ Gln94Stop Q94X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRPF3 Gly225Asp G225D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.243 Y - 4 Y 2 N - - PRPF3 Ile338Thr I338T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.942 Y - 3 - 3 N - - PRPF31 Lys470Glu K470E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.16 Y - 0 - 1 N - - PRPF38A Glu298Ala E298A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRPF39 Tyr591Cys Y591C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRPF8 His1056Arg H1056R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PRPH Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array rs62636520 224 10756 0.0208256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRPS1L1 Thr1Met T1M not reviewed Insufficiently evaluated not reviewed unknown Array rs73313931 173 10758 0.0160811 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR11 Arg9Stop R9X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRR11 Cys161Arg C161R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - PRR11 Pro180Ser P180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - PRR14 Ser207Pro S207P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - PRR15 Pro115Ala P115A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 1 - 2 - - PRR15 Pro115Thr P115T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 4 Y 1 - 2 - - PRR15 Pro124Arg P124R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - PRR18 Gln17Arg Q17R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR19 Pro297His P297H not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.946 - - 5 Y 2 N - - PRR21 Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - -4 - 0 N - - PRR5 Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR5 Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR5 Arg233His R233H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR5 Met280Thr M280T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR5 Met366Thr M366T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR5 Met375Thr M375T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR5 Val293Met V293M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Val379Met V379M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5 Val388Met V388M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5L Ile12Val I12V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRR5L Ile93Val I93V not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PRR5L Thr106Lys T106K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRR5L Thr234Lys T234K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - PRRC1 Leu120Pro L120P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.177 - - 7 Y 0 N - - PRRC1 Ile130Met I130M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRRG3 Ala229Thr A229T not reviewed Insufficiently evaluated not reviewed unknown Array rs1106194 23 8759 0.00262587 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS12 Val818Met V818M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - PRSS12 Gly608Asp G608D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - PRSS21 Ser58Cys S58C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PRSS22 Ala76Ser A76S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.38 - - -1 - 1 N - - PRSS23 Asn47Ile N47I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - PRSS23 Ile234Phe I234F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - PRSS27 Arg2Met R2M not reviewed Insufficiently evaluated not reviewed unknown Array 115 10624 0.0108245 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.105 - - 4 Y 0 N - - PRSS35 Arg284His R284H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PRSS7 Ser545Cys S545C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRSS7 Gly504Glu G504E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRSS7 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRTFDC1 Lys161Arg K161R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRTG Trp1053Cys W1053C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PRUNE Ile130Met I130M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRUNE Thr175Pro T175P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRUNE2 Ala2573Thr A2573T not reviewed Insufficiently evaluated not reviewed unknown Array rs56261747 316 7818 0.0404195 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRUNE2 Arg2569Gly R2569G not reviewed Insufficiently evaluated not reviewed unknown Array rs41288767 316 7820 0.0404092 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRUNE2 Ser1823Leu S1823L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRUNE2 Val112Ala V112A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRX Pro748Leu P748L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10742 0.000279277 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.793 Y Y 7 Y 3 N - - PRX Ala211Thr A211T not reviewed Insufficiently evaluated not reviewed unknown Array 2 8846 0.00022609 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 1 - 2 N - - PSAP His305Arg H305R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - PSAP His307Arg H307R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PSAP His308Arg H308R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - PSAP Val260Leu V260L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PSAPL1 His152Arg H152R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSAT1 Arg306Cys R306C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 8 Y 1 N - - PSD2 Val575Met V575M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - PSD2 Ala629Val A629V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.34 - - 2 - 1 N - - PSD2 Lys687Arg K687R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.1 - - -3 - 0 N - - PSD4 Ser283Asn S283N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - PSD4 Cys365Tyr C365Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 6 Y 2 N - - PSEN1 Val187Ala V187A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PSEN1 Val191Ala V191A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.672 Y Y 2 - 4 - 1 - - PSEN1 Ser353Leu S353L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 6 Y 3 - 1 - - PSEN1 Ser357Leu S357L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 6 Y 2 N - - PSG1 Ile312Thr I312T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG1 Tyr120His Y120H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG1 Thr43Pro T43P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSG1 Glu41Gln E41Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PSG1 Thr33Asn T33N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSG11 Ile199Thr I199T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG11 Ile321Thr I321T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG11 Glu188Lys E188K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG11 Glu310Lys E310K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG11 Arg114Gln R114Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG2 Ala263Thr A263T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSG3 Ile290Asn I290N not reviewed Insufficiently evaluated not reviewed unknown Array rs28698193 1155 7506 0.153877 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.673 - - 7 Y 0 N - - PSG4 Gln280His Q280H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG4 Gln373His Q373H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG5 Pro3Thr P3T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10748 0.000372162 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 1 - 7 - - PSG6 Glu422Lys E422K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG6 Asn275Ser N275S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG7 Leu329Phe L329F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG7 Asp314Asn D314N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG7 Tyr120His Y120H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG7 Ile83Val I83V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PSG8 Tyr200Asp Y200D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSG8 Tyr322Asp Y322D not reviewed Insufficiently evaluated not reviewed unknown Array 406 10756 0.0377464 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSG8 Arg166Leu R166L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSG8 Arg288Leu R288L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 6 Y 1 N - - PSG8 Arg12His R12H not reviewed Insufficiently evaluated not reviewed unknown Array rs7260508 3284 7524 0.43647 29 0 42 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PSG9 Asn349Ile N349I not reviewed Insufficiently evaluated not reviewed unknown Array 169 10602 0.0159404 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - PSIP1 Ser116Arg S116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - PSKH1 Lys89Glu K89E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - PSMA4 Glu179Gly E179G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSMA4 Glu250Gly E250G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSMB10 Leu107Ile L107I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 1 - 1 - - PSMB3 Thr196Ser T196S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - PSMB7 Asp17His D17H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 3 - 0 N - - PSMB8 Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSMB8 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSMB9 Gly9Glu G9E not reviewed Insufficiently evaluated not reviewed unknown Array rs35100697 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSMB9 Val22Leu V22L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - PSMB9 Val32Leu V32L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - PSMC3 Leu343His L343H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - PSMC3 Ala330Pro A330P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - PSMC3 Glu183Gly E183G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PSMC3IP Asp173Val D173V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PSMC3IP Asp185Val D185V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - PSMD3 Tyr114His Y114H not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSMD5 Tyr186His Y186H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PSMD5 Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSME4 Glu1155Asp E1155D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PSMF1 Val192Ala V192A not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSMG1 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSMG1 Ala201Val A201V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSMG1 Met88Thr M88T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - PSORS1C1 Arg45Gln R45Q not reviewed Insufficiently evaluated not reviewed unknown Array 42 7524 0.00558214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSORS1C1 Met49Thr M49T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSPH Gln83His Q83H not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSPH Asp32Gly D32G not reviewed Insufficiently evaluated not reviewed unknown Array 1324 10758 0.123071 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.187 - - 4 Y 0 N - - PSTPIP2 Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 0 - 0 N - - PTAFR Ala239Val A239V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - PTCD1 Ser476Ile S476I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.233 - - 5 Y 1 N - - PTCD1 Thr457Met T457M not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - PTCD1 Pro435Ala P435A not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 1 N - - PTCD1 Lys190Arg K190R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - PTCD1 Ala44Val A44V not reviewed Insufficiently evaluated not reviewed unknown Array rs34452317 144 10756 0.0133879 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - PTCD3 Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PTCD3 Lys476Glu K476E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.951 - - 0 - 2 N - - PTCH1 Pro1131Arg P1131R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PTCH1 Pro1216Arg P1216R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PTCH1 Pro1281Arg P1281R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PTCH1 Pro1282Arg P1282R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 5 Y 2 N - - PTCH2 Val519Ile V519I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - PTCH2 Leu186Phe L186F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - PTCH2 Leu149His L149H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 6 Y 2 N - - PTCHD2 Pro208Ala P208A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9930 0.000302114 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - PTCHD3 Ala224Gly A224G not reviewed Insufficiently evaluated not reviewed unknown Array rs12098562 387 10758 0.0359732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 1 - 2 - 1 - - PTCHD3 Thr126Ala T126A not reviewed Insufficiently evaluated not reviewed unknown Array rs12098477 373 10752 0.0346912 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PTCRA Arg189Gln R189Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10042 0.00517825 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - PTCRA Trp234Cys W234C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - PTDSS1 Lys261Thr K261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - PTDSS2 Val421Ile V421I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTER Thr107Lys T107K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PTGDR Ile282Val I282V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - PTGER2 Gln343Stop Q343X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PTGES3 Ser118Pro S118P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.803 - - 3 - 1 N - - PTGES3 Val101Asp V101D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - PTGFRN Leu93Pro L93P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - PTGIS Arg379Gly R379G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 3 - 4 - - PTH1R Gly330Asp G330D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - - 4 Y 2 N - - PTH1R Glu546Gln E546Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.16 - - -2 - 0 N - - PTH2R Cys542Arg C542R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.484 - - 8 Y 1 N - - PTK2 Met808Thr M808T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - PTK2 Met830Thr M830T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTK2 Asp14Gly D14G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTK2B Lys522Glu K522E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - PTK2B Leu731Gln L731Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 5 Y 1 N - - PTK7 Gly562Ala G562A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTK7 Gly636Ala G636A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTK7 Gly652Ala G652A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTK7 Gly692Ala G692A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 0 N - - PTK7 Ala647Val A647V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTK7 Ala721Val A721V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTK7 Ala737Val A737V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTK7 Ala777Val A777V not reviewed Insufficiently evaluated not reviewed unknown Array rs34764696 635 10758 0.0590258 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTK7 Met843Ile M843I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTK7 Met917Ile M917I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTK7 Met933Ile M933I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTK7 Met973Ile M973I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - PTPDC1 Val561Ile V561I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PTPDC1 Val613Ile V613I not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - PTPLAD2 Val60Gly V60G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 8 Y 2 N - - PTPN13 Ile2267Val I2267V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN13 Ile2439Val I2439V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN13 Ile2458Val I2458V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PTPN13 Ile2463Val I2463V not reviewed Insufficiently evaluated not reviewed unknown Array rs34226837 125 9512 0.0131413 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN18 Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN18 Arg331His R331H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN21 Leu362Ile L362I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN23 Ala807Thr A807T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - PTPN23 Gly1490Ser G1490S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - PTPN23 Ile1540Val I1540V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPN3 Val177Ala V177A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN3 Val222Ala V222A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN3 Val333Ala V333A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN3 Val378Ala V378A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN3 Val464Ala V464A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN3 Val509Ala V509A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN3 Asp77Asn D77N not reviewed Insufficiently evaluated not reviewed unknown Array rs35285139 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - PTPN6 Asp606His D606H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRA Glu189Gly E189G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRA Glu198Gly E198G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - PTPRB Thr1032Ile T1032I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PTPRB Thr1250Ile T1250I not reviewed Insufficiently evaluated not reviewed unknown Array rs34902691 43 10198 0.00421651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PTPRC Thr260Ile T260I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - PTPRC Thr373Ile T373I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PTPRC Thr421Ile T421I not reviewed Insufficiently evaluated not reviewed unknown Array rs6696162 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 3 - - PTPRC Ser1076Gly S1076G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRC Ser1124Gly S1124G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - PTPRC Ser963Gly S963G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRC Glu1030Ala E1030A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRC Glu1143Ala E1143A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRC Glu1191Ala E1191A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 3 - 1 - - PTPRD Thr1081Ala T1081A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Thr1082Ala T1082A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Thr1479Ala T1479A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Thr1483Ala T1483A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - PTPRD Thr1492Ala T1492A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.661 - - 1 - 1 N - - PTPRD Asn725Ser N725S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRD Asn738Ser N738S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRD Ile84Met I84M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - PTPRF Arg1427Ser R1427S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PTPRF Arg1436Ser R1436S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 3 - - PTPRF Tyr1852Stop Y1852X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - PTPRF Tyr1861Stop Y1861X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 3 - - PTPRH Pro1093Leu P1093L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - PTPRJ Val203Ala V203A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - 2 - 1 N - - PTPRJ Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229703 340 10758 0.0316044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 1 - 5 - - PTPRJ Arg532Trp R532W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - 7 Y 0 N - - PTPRK Leu1181Pro L1181P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRK Leu1187Pro L1187P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRK Lys722Arg K722R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PTPRK Asn510Asp N510D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPRM Leu70Met L70M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PTPRM Gly362Asp G362D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRM Thr580Ala T580A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRO Val34Ala V34A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRQ Arg176Cys R176C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRQ Lys1949Asn K1949N not reviewed Insufficiently evaluated not reviewed unknown Array 63 3234 0.0194805 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRS Arg907Cys R907C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRS Arg929Cys R929C not reviewed Insufficiently evaluated not reviewed unknown Array rs61729778 184 9274 0.0198404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 8 Y 0 N - - PTPRT Asn684Ser N684S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PTPRU Arg1192Trp R1192W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRU Arg1198Trp R1198W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRU Arg1202Trp R1202W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRZ1 Ile1207Met I1207M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - -1 - 0 N - - PTRH1 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PTTG2 Phe183Leu F183L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTX3 His39Gln H39Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34655398 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - PTX3 Thr159Met T159M not reviewed Insufficiently evaluated not reviewed unknown Array 37 4606 0.008033 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PUF60 Gly47Glu G47E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.417 - - 6 Y 1 N - - PUF60 Gly4Glu G4E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PUM1 Lys1076Arg K1076R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PUM1 Lys1078Arg K1078R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PUS10 Gln371Arg Q371R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - PUS10 Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PUS10 Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 1 - 0 N - - PUS3 Arg159His R159H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PUS7 Asp517Gly D517G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PUS7L Thr95Ser T95S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PUS7L Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - PVALB Val44Ala V44A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.709 - - 2 - 1 N - - PVR Ala295Thr A295T not reviewed Insufficiently evaluated not reviewed unknown Array rs35365841 561 10758 0.0521472 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PVR Thr315Ala T315A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 1 - 3 - 2 - - PVRL1 Glu335Asp E335D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - -2 - 1 N - - PVRL1 Tyr341Cys Y341C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PVRL2 Ala77Val A77V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PVRL2 Asp434Glu D434E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PWP1 Asp105Gly D105G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PWP1 Ser395Gly S395G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 2 - 1 N - - PXDN Thr1375Ile T1375I not reviewed Insufficiently evaluated not reviewed unknown Array 85 10512 0.008086 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PXDN Thr1268Arg T1268R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - PXDNL Ser833Asn S833N not reviewed Insufficiently evaluated not reviewed unknown Array rs11985241 1141 10366 0.110071 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - PXDNL Thr628Ile T628I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9672 0.000103391 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PXDNL Asp616Ala D616A not reviewed Insufficiently evaluated not reviewed unknown Array rs16916207 1117 9728 0.114823 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 0 N - - PXDNL Ala478Val A478V not reviewed Insufficiently evaluated not reviewed unknown Array 132 10150 0.0130049 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PXMP3 Ala245Thr A245T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PXN Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PXN Arg360Gln R360Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PXN Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10352 0.00164219 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.757 - - 0 - 2 - 1 - - PXN Ala127Pro A127P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.592 - - 2 - 1 N - - PYGL Lys215Arg K215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -3 - 2 N - - PYGM Thr395Met T395M not reviewed Insufficiently evaluated not reviewed unknown Array rs71581787 184 10738 0.0171354 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PYGM Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - PYGO1 Asp418Gly D418G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - PYHIN1 His193Arg H193R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PYHIN1 His202Arg H202R not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 1 - 1 N - - PYHIN1 Arg371Gly R371G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PYHIN1 Arg380Gly R380G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PYHIN1 His479Tyr H479Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PYHIN1 His488Tyr H488Y not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PYHIN1 Lys449Glu K449E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PYHIN1 Lys458Glu K458E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PYROXD1 Glu203Gly E203G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - PYROXD2 Ala312Val A312V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PYROXD2 Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - PYROXD2 Arg110Ser R110S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.122 - - 3 - 0 N - - QARS Thr23Ala T23A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 3 - 1 - - QDPR Ser200Arg S200R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - QDPR Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - QPCT Thr60Ile T60I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - QPCT Val353Ile V353I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.12 - - -4 - 0 N - - QRFP Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 7 Y 1 N - - QRFPR Glu423Gly E423G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - QRICH1 Arg283Gly R283G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - QRICH2 Gln759His Q759H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - QRICH2 Gly143Arg G143R not reviewed Insufficiently evaluated not reviewed unknown Array 326 10758 0.030303 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - QSK Ala992Thr A992T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - QSK Asp494Gly D494G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - QSOX1 Glu397Gly E397G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 6 Y 0 N - - QSOX1 Gln629Arg Q629R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - 0 - 1 N - - QSOX2 Val609Ile V609I not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - QTRTD1 Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - 2 - 0 N - - R3HDM1 Pro589Thr P589T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - R3HDML Ser122Pro S122P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - R3HDML Asp162Asn D162N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAB10 Gln54Arg Q54R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB10 Trp63Stop W63X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAB11FIP1 Pro1077Leu P1077L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - RAB11FIP1 Pro406Leu P406L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAB11FIP1 Val1004Ala V1004A not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - RAB11FIP1 Val333Ala V333A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB11FIP1 Glu121Lys E121K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB11FIP1 Glu792Lys E792K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RAB11FIP1 Gly71Arg G71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAB11FIP1 Gly742Arg G742R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - RAB11FIP1 Thr358Ser T358S not reviewed Insufficiently evaluated not reviewed unknown Array rs7815364 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 1 N - - RAB11FIP1 Leu312Phe L312F not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.574 - - 0 - 1 N - - RAB11FIP1 Asp264Val D264V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 8 Y 2 N - - RAB11FIP2 Glu455Gly E455G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - RAB11FIP3 Glu149Ala E149A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAB11FIP3 Glu445Ala E445A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 3 - 1 N - - RAB11FIP3 Asn206Ser N206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB11FIP3 Asn502Ser N502S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - RAB11FIP4 Asn372Asp N372D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - RAB11FIP5 Gln611Leu Q611L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - RAB13 Gly181Arg G181R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - RAB17 Cys210Stop C210X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAB17 Cys210Trp C210W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - RAB17 Leu181Met L181M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - -3 - 1 N - - RAB20 Asn134Ser N134S not reviewed Insufficiently evaluated not reviewed unknown Array rs426453 475 10758 0.0441532 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RAB23 Ile123Val I123V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAB28 Glu204Gly E204G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - RAB2B Ile11Thr I11T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.663 - - 3 - 2 - 1 - - RAB36 Thr210Ala T210A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - RAB37 Asn136Ser N136S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB37 Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RAB39 Val115Ile V115I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - RAB39B Val189Ala V189A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - RAB3C Leu140Pro L140P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 7 Y 0 N - - RAB3C Met147Val M147V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - RAB3D Asn171Lys N171K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 1 - 3 - 1 - - RAB3D Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 3 - 1 - - RAB3GAP1 Leu513Pro L513P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.978 Y - 7 Y 3 N - - RAB3GAP1 Phe755Leu F755L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - RAB3GAP1 Pro934Thr P934T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 4 Y 3 N - - RAB3GAP2 Val90Ala V90A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - RAB3GAP2 Gln58Pro Q58P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RAB3GAP2 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - RAB3IP Phe129Ser F129S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAB3IP Phe335Ser F335S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAB3IP Phe351Ser F351S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - RAB42 Lys17Thr K17T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 3 - 2 N - - RAB5C Lys184Asn K184N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RAB6C Val119Ile V119I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - RAB9A Cys142Gly C142G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RABAC1 Thr19Arg T19R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - RABAC1 Thr19Ser T19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - RABEP1 Ser499Thr S499T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - RABL3 Cys41Arg C41R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RABL4 Arg138Trp R138W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAD1 Arg109Gln R109Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.167 - Y 0 - 1 N - - RAD17 Lys111Glu K111E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD17 Lys197Glu K197E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - RAD17 Lys208Glu K208E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - RAD17 Lys32Glu K32E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD51AP1 Pro10Ala P10A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10754 0.008183 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - RAD51AP1 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - RAD51C Thr78Ile T78I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - RAD51C Asp348Gly D348G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.608 - - 4 Y 1 N - - RAD54B Leu889Pro L889P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - RAD54B Asn600Ser N600S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD54B Lys241Thr K241T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - RAD54B Asp80Val D80V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - RAD54L Pro32Arg P32R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 5 Y 0 N - - RAD54L Arg688His R688H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD9B Phe215Ser F215S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RAE1 Ser117Asn S117N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - RAET1E Cys189Stop C189X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAET1G Tyr316Stop Y316X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAET1G Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - RAET1G Thr84Arg T84R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - RAET1G Pro76Arg P76R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.171 - - 5 Y 0 N - - RAG1 Met487Val M487V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.673 Y - 0 - 2 N - - RAG1AP1 Arg159Trp R159W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAG1AP1 Arg160Trp R160W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAG1AP1 Arg214Trp R214W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAG2 Ser291Phe S291F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.851 Y - 5 Y 3 N - - RAI1 Val1675Leu V1675L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.146 Y Y 0 - 2 N - - RAI14 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - RAI14 Ser37Asn S37N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.523 - - 0 - 1 N - - RAI14 Ser45Asn S45N not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RAI14 Ser48Asn S48N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAI14 Gly200Arg G200R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAI14 Gly208Arg G208R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - RAI14 Gly211Arg G211R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAI14 Gln909His Q909H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAI14 Gln930His Q930H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAI14 Gln938His Q938H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - RAI14 Gln941His Q941H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RALGPS2 Lys543Glu K543E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - RALY Ile19Phe I19F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 2 - 0 N - - RALY Asn76Asp N76D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - -1 - 0 N - - RALY Gly235Arg G235R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 1 - 4 - - RALY Gly251Arg G251R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 1 - 4 - - RALY Gly263Arg G263R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RALY Gly279Arg G279R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 6 Y 2 N - - RAMP1 Arg99His R99H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 1 - 1 - - RANBP1 Phe27Ser F27S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RANBP17 Thr666Ile T666I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 3 - 0 N - - RANBP17 Phe704Leu F704L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - RANBP2 Met933Leu M933L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - RANBP2 Lys1121Asn K1121N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - RANBP6 Gln94Arg Q94R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.726 - - 0 - 1 N - - RANGAP1 Asp319Glu D319E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 Y Y -2 - 3 N - - RAPGEF2 Phe921Leu F921L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 1 N - - RAPGEF2 Gly1053Val G1053V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10072 0.00019857 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RAPGEF3 Asp656Asn D656N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAPGEF3 Asp698Asn D698N not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - RAPGEF4 Ile372Val I372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAPGEF4 Ile516Val I516V not reviewed Insufficiently evaluated not reviewed unknown Array 49 9492 0.00516224 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - RAPGEF6 Leu1439Pro L1439P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAPGEF6 Thr184Ala T184A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAPSN Ile275Thr I275T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 3 - 2 N - - RARA Leu182Pro L182P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RARA Leu187Pro L187P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 7 Y 2 N - - RARA Leu90Pro L90P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - RARB Thr305Ala T305A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RARB Thr417Ala T417A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RARS2 Ser285Arg S285R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - RASA1 Ile732Val I732V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - RASA1 Ile909Val I909V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.696 Y - -4 - 2 N - - RASA1 Val760Ala V760A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - RASA1 Val937Ala V937A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.361 Y - 2 - 2 N - - RASAL1 Leu678Pro L678P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - RASEF Met281Val M281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RASEF Lys273Asn K273N not reviewed Insufficiently evaluated not reviewed unknown Array 192 10756 0.0178505 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 1 - 1 N - - RASGEF1A Phe340Cys F340C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - RASGRF1 Asn1084Lys N1084K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASGRF1 Asn1100Lys N1100K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASGRF1 Asn316Lys N316K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASGRF2 Thr801Met T801M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - RASIP1 Pro136Leu P136L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RASL11B Lys124Met K124M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 4 Y 1 N - - RASL11B Phe234Leu F234L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - RASSF1 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RASSF1 Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASSF1 Arg269Gln R269Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RASSF1 Arg273Gln R273Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - RASSF1 Arg23Pro R23P not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - RASSF10 Gly33Asp G33D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RASSF2 Ile214Val I214V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.336 - - -4 - 1 N - - RASSF4 Asp4Gly D4G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - RASSF4 Glu96Asp E96D not reviewed Insufficiently evaluated not reviewed unknown Array 184 10740 0.0171322 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RASSF7 Gln251His Q251H not reviewed Insufficiently evaluated not reviewed unknown Array 47 9438 0.00497987 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RASSF9 Ile339Val I339V not reviewed Insufficiently evaluated not reviewed unknown Array 36 9600 0.00375 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - RASSF9 Val33Ile V33I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.897 - - -4 - 2 N - - RAVER2 Ala199Thr A199T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - RAX2 Ala144Ser A144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 1 N - - RB1CC1 Arg1216Lys R1216K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RB1CC1 Asn418His N418H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - RBAK Asn106Ser N106S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RBAK Glu209Gln E209Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - RBBP6 Ser399Pro S399P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBBP6 Ile1573Thr I1573T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBBP6 Ile1607Thr I1607T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RBBP8 Cys155Tyr C155Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - RBL1 Phe497Ser F497S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RBM10 Ser412Pro S412P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBM10 Ser490Pro S490P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBM12B Glu857Lys E857K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM15B Gln500His Q500H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - RBM16 Tyr446His Y446H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBM18 Phe170Ser F170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 5 Y 0 N - - RBM19 Pro784Leu P784L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBM20 His343Tyr H343Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBM20 Phe920Cys F920C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBM23 Asp319His D319H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBM23 Asp337His D337H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBM23 Asp353His D353H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - RBM28 Ala672Val A672V not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - RBM28 Asp240His D240H not reviewed Insufficiently evaluated not reviewed unknown Array rs62639218 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 1 - 1 - - RBM33 Asn899Asp N899D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -1 - 1 N - - RBM34 Gly54Ser G54S not reviewed Insufficiently evaluated not reviewed unknown Array 45 9836 0.00457503 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM43 Ile335Val I335V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -4 - 2 N - - RBM43 Asn272Ser N272S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - RBM43 Thr240Ile T240I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.117 - - 3 - 0 N - - RBM43 Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - RBM44 Ser92Gly S92G not reviewed Insufficiently evaluated not reviewed unknown Array 319 9528 0.0334803 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM5 Phe276Leu F276L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - RBMX Asn46Ser N46S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBMXL2 Arg67Gly R67G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - RBP1 Met112Val M112V not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RBP3 Arg1239Trp R1239W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - RBP3 Val693Met V693M not reviewed Insufficiently evaluated not reviewed unknown Array 96 10738 0.00894021 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 1 - 1 - - RBP3 Pro527Leu P527L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - RBP3 Gly140Ser G140S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 2 - 0 N - - RBP5 Val97Met V97M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - RBPJ Thr182Arg T182R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBPJ Thr183Arg T183R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBPJ Thr184Arg T184R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBPJ Thr197Arg T197R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - RBPJ Tyr421Cys Y421C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBPJ Tyr422Cys Y422C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBPJ Tyr423Cys Y423C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBPJ Tyr436Cys Y436C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RBPMS Thr186Ala T186A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBPMS2 Trp155Arg W155R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RCBTB2 Asp354Asn D354N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.192 - - -1 - 0 N - - RCBTB2 Val198Ala V198A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - RCC1 Ala245Pro A245P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RCC1 Ala262Pro A262P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RCC1 Ala276Pro A276P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RCCD1 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RCE1 Glu18Gln E18Q not reviewed Insufficiently evaluated not reviewed unknown Array 133 5400 0.0246296 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - RCN3 Val155Met V155M not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - RCN3 Arg250Gly R250G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 2 - 4 - - RCOR3 Thr381Ala T381A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RCVRN Glu169Gly E169G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - RD3 Glu23Asp E23D not reviewed Insufficiently evaluated not reviewed unknown Array rs34422496 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.07 Y Y -2 - 3 - 10 - - RD3 Trp6Arg W6R not reviewed Insufficiently evaluated not reviewed unknown Array rs35649846 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 5 - 9 - - RDBP Asp227Gly D227G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RDH13 Asp218Asn D218N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RDH13 Asp289Asn D289N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 1 - 1 - - RDH5 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RDH5 Ile161Val I161V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733970 126 10756 0.0117144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - REC8 Met140Lys M140K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 1 N - - RECQL Lys196Arg K196R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RECQL4 Pro591Leu P591L not reviewed Insufficiently evaluated not reviewed unknown Array rs2721191 272 10350 0.0262802 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - REEP2 Lys28Arg K28R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - -3 - 1 N - - REEP2 Pro200Leu P200L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 7 Y 0 N - - REEP3 Gln171Lys Q171K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - REEP6 Val41Leu V41L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - REEP6 Leu163Arg L163R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - REG3G Gly117Glu G117E not reviewed Insufficiently evaluated not reviewed unknown Array rs61740756 246 10758 0.0228667 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.244 - - 6 Y 1 N - - REL Tyr25His Y25H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 9 - - RELN Pro2880Ser P2880S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - RELN Phe2836Leu F2836L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - RELN Trp2753Arg W2753R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RELN Asn2591Ser N2591S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - RELN Ser1275Ala S1275A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.449 - - -1 - 1 N - - RELN Glu851Gly E851G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - RELN Ser465Phe S465F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RELT Pro212Arg P212R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - RELT Ile344Val I344V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - REM1 His28Pro H28P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 2 - - REM1 Leu264Val L264V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - REN Leu129Phe L129F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 2 - 1 - - REPIN1 Arg34Trp R34W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - REPIN1 Arg149Pro R149P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - REPIN1 Arg92Pro R92P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 3 - 1 - - REPS1 Glu623Lys E623K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - 0 - 1 N - - REPS1 Glu649Lys E649K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RERE His1542Leu H1542L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RERE His988Leu H988L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RERGL Lys177Glu K177E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - RESP18 Asp118Glu D118E not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - REST Asp395Gly D395G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - REST Asp649Gly D649G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - REST Met701Ile M701I not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - RET Ser829Gly S829G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - RETSAT Ile307Thr I307T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - REV1 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 1 - 2 - - REV3L Arg3014Ser R3014S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - REV3L Thr2224Ala T2224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - REV3L Ile2115Val I2115V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - REV3L Lys124Glu K124E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 3 - 1 - - REXO1 Lys718Arg K718R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - RFC1 Glu691Asp E691D not reviewed Insufficiently evaluated not reviewed unknown Array rs11932767 217 10758 0.020171 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFC3 Gly33Asp G33D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.355 - - 4 Y 1 N - - RFC4 Gln309Glu Q309E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.354 - - -2 - 1 N - - RFC4 Ala91Ser A91S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - -1 - 0 N - - RFNG Asn152Lys N152K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - RFPL2 Ser68Thr S68T not reviewed Insufficiently evaluated not reviewed unknown Array 190 7820 0.0242967 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 1 N - - RFPL3 Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - RFPL3 Arg179His R179H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFT1 Asn405Ser N405S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 N - - RFTN1 Pro135Leu P135L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RFTN2 Arg456Gln R456Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 0 - 2 N - - RFWD3 Thr572Ala T572A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - RFWD3 Ser220Gly S220G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - RFX1 Leu957Met L957M not reviewed Insufficiently evaluated not reviewed unknown Array 51 7684 0.00663717 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - -3 - 1 N - - RFX3 Ser726Gly S726G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - 2 - 0 N - - RFX3 Leu523Pro L523P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - RFX6 His301Arg H301R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - RFX6 Val655Ala V655A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - RG9MTD3 Lys11Asn K11N not reviewed Insufficiently evaluated not reviewed unknown Array rs62624977 79 10054 0.00785757 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - RGAG1 Ser395Pro S395P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 3 - 1 N - - RGL3 Glu699Gln E699Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - -2 - 2 N - - RGL3 Glu705Gln E705Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RGL4 Glu189Gly E189G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - RGNEF Arg208Cys R208C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RGS1 Ser126Thr S126T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RGS11 Asn264Ser N264S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGS11 Asn285Ser N285S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RGS11 Asp123Gly D123G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RGS11 Asp144Gly D144G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - RGS12 Ser16Ala S16A not reviewed Insufficiently evaluated not reviewed unknown Array 486 10754 0.0451925 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGS12 Pro189Leu P189L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - RGS12 Pro1362His P1362H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - RGS12 Pro714His P714H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RGS14 Thr27Met T27M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - RGS14 Gly249Ser G249S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10028 0.00189469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS19 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - RGS2 Gln196Arg Q196R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RGS20 Ala10Ser A10S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGS3 Arg32Trp R32W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGS3 Cys85Tyr C85Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RGS3 Pro117Arg P117R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RGS5 Arg172Cys R172C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RGSL1 Glu5Asp E5D not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RGSL1 Ile670Ser I670S not reviewed Insufficiently evaluated not reviewed unknown Array 20 3234 0.00618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RGSL1 Arg1035Gln R1035Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHBDD3 Thr349Ala T349A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 1 - 2 N - - RHBDF1 Arg67Trp R67W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - RHBDL1 Tyr412Stop Y412X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RHCE Glu146Gly E146G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RHCG Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - RHD Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array 243 9830 0.0247202 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RHOA Phe171Leu F171L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 3 - 2 - - RHOA Gly17Ala G17A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.112 - - 1 - 1 - 10 - - RHOBTB2 Ser309Leu S309L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - RHOBTB2 Ser316Leu S316L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RHOBTB2 Ser331Leu S331L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RHOBTB3 Asn214Ser N214S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RHOC Met82Val M82V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - RHOD Asp88Glu D88E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - -2 - 3 - 4 - - RHOF Met156Leu M156L not reviewed Insufficiently evaluated not reviewed unknown Array 210 10754 0.0195276 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.483 - - -3 - 2 - 1 - - RHOJ Ser101Tyr S101Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - RHOU Ser68Arg S68R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - RHOU Cys255Gly C255G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - RHPN2 Leu571Val L571V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIBC2 Arg40Cys R40C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RIBC2 Leu133Val L133V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - RIC3 Gly172Ala G172A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - RIC8A Leu383His L383H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 2 N - - RIC8A Val397Ala V397A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - RIC8B Asn127Asp N127D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RICS Arg1038Gln R1038Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RICS Arg1387Gln R1387Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RICTOR Thr1240Ile T1240I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - RICTOR Ile975Met I975M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - -1 - 0 N - - RICTOR Arg873His R873H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - RICTOR Ile766Thr I766T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.309 - - 3 - 1 N - - RIF1 Asn105Ser N105S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 0 - 1 N - - RIF1 Glu220Asp E220D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 3 - 2 - - RIF1 Lys519Arg K519R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.676 - - -3 - 1 N - - RIF1 Ala863Thr A863T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10742 0.000186185 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 1 - 0 N - - RIF1 Thr1806Ser T1806S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.164 - - -2 - 0 N - - RILP Gly284Ser G284S not reviewed Insufficiently evaluated not reviewed unknown Array 286 10758 0.0265849 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - 2 - 1 N - - RILPL1 Asn143Lys N143K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 1 - 1 - 1 - - RIMBP2 Ala113Val A113V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIMBP3 Val1378Ile V1378I not reviewed Insufficiently evaluated not reviewed unknown Array 335 9954 0.0336548 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RIMKLA Gly356Arg G356R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - RIMS2 Thr187Ile T187I not reviewed Insufficiently evaluated not reviewed unknown Array 44 9798 0.00449071 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMS2 Ser278Phe S278F not reviewed Insufficiently evaluated not reviewed unknown Array rs17854256 84 9724 0.00863842 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - RIMS2 Ser86Phe S86F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - RIN1 Glu750Gln E750Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - RIN1 Val700Ile V700I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 1 - 1 - - RIN1 Pro647Thr P647T not reviewed Insufficiently evaluated not reviewed unknown Array 49 10752 0.00455729 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - RIN3 Arg917Gln R917Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RING1 Gln309Arg Q309R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIOK1 Gly334Ser G334S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIOK1 Gly93Ser G93S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIOK2 Asn459Ser N459S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - RIOK2 Arg356Gln R356Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - RIOK2 Pro176Thr P176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - RIOK3 Leu47Val L47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - 0 - 1 N - - RIOK3 Arg311Lys R311K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -3 - 2 N - - RIOK3 Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - RIPK1 Lys45Asn K45N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - RIPK2 Ile300Arg I300R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - RLBP1L1 Ile158Val I158V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RLF Ser919Pro S919P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - RLF His979Arg H979R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - RLN1 Leu6Ser L6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - RLN2 Ser58Arg S58R not reviewed Insufficiently evaluated not reviewed unknown Array 54 10706 0.0050439 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 1 N - - RMI1 Asn355Asp N355D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RMND1 Arg47His R47H not reviewed Insufficiently evaluated not reviewed unknown Array rs6934360 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - RMND1 Leu30Val L30V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNASE10 Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNASE10 Thr64Ile T64I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - RNASE10 Ser131Asn S131N not reviewed Insufficiently evaluated not reviewed unknown Array rs2067648 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNASE11 Pro143Thr P143T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 4 Y 1 N - - RNASE11 Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.342 - - 6 Y 1 N - - RNASE11 Leu9Pro L9P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 7 Y 2 N - - RNASE4 Ile133Phe I133F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - RNASE6 Lys97Arg K97R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - RNASE8 Gly108Ser G108S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNASE9 Leu23Pro L23P not reviewed Insufficiently evaluated not reviewed unknown Array 309 10756 0.0287282 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNASE9 Leu28Pro L28P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNASE9 His14Pro H14P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RNASE9 His9Pro H9P not reviewed Insufficiently evaluated not reviewed unknown Array 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 5 Y 2 N - - RNASEH2A Ala218Val A218V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - RNASEH2B Asn305Lys N305K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RNASEH2C Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.977 Y Y 7 Y 4 N - - RNASEK Asn53Ser N53S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9688 0.000309661 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 0 - 1 N - - RNASEN Pro170Leu P170L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNASET2 Arg236Trp R236W not reviewed Insufficiently evaluated not reviewed unknown Array rs11159 953 10758 0.0885852 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.276 - - 7 Y 0 N - - RNF10 His326Arg H326R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.804 - - 1 - 1 N - - RNF103 Val560Ile V560I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RNF103 Thr535Ile T535I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - RNF103 Ser171Pro S171P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - RNF113B Leu128Pro L128P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - RNF113B Ser46Arg S46R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - RNF113B Gly8Ala G8A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - RNF123 Arg329Cys R329C not reviewed Insufficiently evaluated not reviewed unknown Array rs34379671 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF133 Arg270Cys R270C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RNF138 Gln132Arg Q132R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF138 Gln226Arg Q226R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - RNF144B Gly183Ala G183A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.253 - - 1 - 1 N - - RNF149 Met329Thr M329T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - RNF157 Val410Ile V410I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RNF160 Met1566Ile M1566I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF160 Cys1295Tyr C1295Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF160 Leu966Pro L966P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF160 Leu922Pro L922P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF160 Leu756Ser L756S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF160 Asp554Val D554V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF168 Pro494Leu P494L not reviewed Insufficiently evaluated not reviewed unknown Array rs35132476 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF17 Ala118Ser A118S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF17 Leu266Stop L266X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RNF19A Glu95Val E95V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 5 Y 2 N - - RNF2 Met325Ile M325I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - -1 - 2 N - - RNF213 Met84Thr M84T not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Thr255Met T255M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Ile313Val I313V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF213 Ala1266Val A1266V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Thr1316Ala T1316A not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF213 Ile1330Val I1330V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF213 Arg1363Ser R1363S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF213 Arg1553Gln R1553Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Ile2488Val I2488V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF213 Leu2825His L2825H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF25 Arg415Trp R415W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - RNF25 Asn259Asp N259D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - RNF34 Gly37Ser G37S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - RNF34 Gly38Ser G38S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF34 Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RNF34 Lys296Arg K296R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RNF38 Asp38Gly D38G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNF43 Gly574Arg G574R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - RNF43 Gln324Lys Q324K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10732 0.000838613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -2 - 2 N - - RNF44 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.465 - - 0 - 1 N - - RNF8 Lys482Arg K482R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - -3 - 1 N - - RNF8 Arg414Gly R414G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNFT1 Ile190Thr I190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - RNH1 Arg188Pro R188P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 5 Y 3 - 3 - - RNLS Ser191Phe S191F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RNMT Ser71Pro S71P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - RNMTL1 Gln203His Q203H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - -1 - 1 N - - ROBO3 Pro1325Gln P1325Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 4 Y 3 N - - ROBO4 Arg144Trp R144W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ROCK1 Pro1164Leu P1164L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ROCK1 Lys1054Arg K1054R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - ROCK1 Thr792Ala T792A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ROCK1 Val355Ile V355I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -4 - 2 N - - ROCK2 Thr431Ser T431S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 5 - - ROD1 Ser352Gly S352G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ROM1 Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 N - - ROM1 Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ROPN1 Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - RORB Phe283Leu F283L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RORC Ala443Gly A443G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RORC Ala464Gly A464G not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 1 - 2 - - ROS1 Trp1694Arg W1694R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ROS1 Pro1522Gln P1522Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ROS1 Arg1506Gly R1506G not reviewed Insufficiently evaluated not reviewed unknown Array rs35841892 191 10758 0.0177542 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - ROS1 Val797Ala V797A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - ROS1 Lys461Glu K461E not reviewed Insufficiently evaluated not reviewed unknown Array rs61729671 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 0 - 1 N - - ROS1 Ser282Pro S282P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - RP1 Met850Val M850V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.925 Y - 0 - 3 N - - RP1 Thr942Met T942M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - RP1 Asn1035Lys N1035K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.374 Y - 1 - 2 N - - RP1 Arg1595Gln R1595Q not reviewed Insufficiently evaluated not reviewed unknown Array 365 10758 0.0339282 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 0 - 3 N - - RP1 Gln1619Arg Q1619R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.97 Y - 0 - 3 N - - RP1 His1869Tyr H1869Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - -1 - 3 N - - RP1 Leu1901Phe L1901F not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.565 Y - 0 - 2 N - - RPA2 Val104Ala V104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.724 - - 2 - 1 N - - RPA3 Ser91Asn S91N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP1 Cys875Tyr C875Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - RPAP3 Ser402Asn S402N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP3 Ser527Asn S527N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP3 Ser561Asn S561N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP3 Asp345Gly D345G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPAP3 Asp470Gly D470G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPAP3 Asp504Gly D504G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 4 Y 0 N - - RPGR Asp789Asn D789N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - RPGR Ile75Val I75V not reviewed Insufficiently evaluated not reviewed unknown Array 318 8759 0.0363055 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 3 - - RPGRIP1 Thr686Ile T686I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 3 - 2 N - - RPGRIP1L Lys570Arg K570R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.051 Y Y -3 - 2 N - - RPH3A Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - RPH3A Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array 253 10758 0.0235174 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - RPH3AL Ala305Thr A305T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - RPH3AL Val101Leu V101L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPH3AL Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - RPL19 Asn66Ser N66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - RPL19 Lys152Stop K152X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RPL19 Ala179Thr A179T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPL19 Ala179Val A179V not reviewed Insufficiently evaluated not reviewed unknown Array 26 9766 0.0026623 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPL24 Thr134Ile T134I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - RPL24 Gln68Glu Q68E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - RPL28 Thr130Ile T130I not reviewed Insufficiently evaluated not reviewed unknown Array 71 3234 0.0219542 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPL28 Trp153Gly W153G not reviewed Insufficiently evaluated not reviewed unknown Array 61 3234 0.0188621 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RPL31 Val36Leu V36L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPL31 Val36Glu V36E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPL35A Ala94Gly A94G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - RPL3L Arg34Gln R34Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10732 9.3179e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - RPLP0 Asn243Ser N243S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - RPLP0 Phe215Leu F215L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 2 - 1 - - RPLP0 Asp157Gly D157G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.206 - - 4 Y 1 N - - RPLP2 Lys24Met K24M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - RPN2 Ala90Gly A90G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - RPN2 Val237Met V237M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPN2 Val269Met V269M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - RPP38 Asn26Asp N26D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.488 - - -1 - 1 N - - RPP40 Gln201His Q201H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730291 364 10758 0.0338353 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPP40 Ser166Pro S166P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPP40 Cys17Ser C17S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPRD1A Lys79Glu K79E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - RPS11 Arg8His R8H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - RPS14 Lys50Asn K50N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.715 - - 1 - 2 - 1 - - RPS21 Tyr53Stop Y53X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RPS21 Leu70Val L70V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPS24 Gln131Lys Q131K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - RPS3 Pro233Arg P233R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - RPS3 Pro239Arg P239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - RPS6KA1 Thr621Ala T621A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPS6KA1 Thr630Ala T630A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPS6KA4 Arg736Leu R736L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.304 - - 6 Y 2 - 2 - - RPS6KA4 Arg742Leu R742L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.289 - - 6 Y 1 N - - RPS6KA6 Gln344Arg Q344R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - RPS6KB2 Arg120Gly R120G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RPS6KB2 Phe269Leu F269L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - RPTOR Thr78Ala T78A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - RPUSD1 Pro260Thr P260T not reviewed Insufficiently evaluated not reviewed unknown Array 402 10682 0.0376334 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.741 - - 4 Y 1 N - - RPUSD2 His164Arg H164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - RPUSD3 Ala166Pro A166P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - RPUSD3 Ala181Pro A181P not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - RPUSD4 Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array rs35157957 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPUSD4 Asp58Gly D58G not reviewed Insufficiently evaluated not reviewed unknown Array rs35468281 92 10758 0.00855177 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.053 - - 4 Y 0 N - - RRAS2 Gln72Arg Q72R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - RRBP1 Arg469Trp R469W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RRBP1 Gln414Glu Q414E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RRBP1 Tyr214Cys Y214C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RRBP1 Asp85Glu D85E not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.721 - - -2 - 1 N - - RREB1 Pro295His P295H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RREB1 Asp342Asn D342N not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - -1 - 2 N - - RREB1 Asn408Ser N408S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - RREB1 Met610Ile M610I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10582 0.0042525 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RREB1 Gly830Ser G830S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RREB1 Gln1389Arg Q1389R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - RREB1 Gln1444Arg Q1444R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RREB1 Glu1423Gly E1423G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - RREB1 Glu1478Gly E1478G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - RRM1 Met31Val M31V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - RRM1 Tyr404Asn Y404N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RRM1 Val763Leu V763L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RRN3 Ile348Met I348M not reviewed Insufficiently evaluated not reviewed unknown Array rs2941256 943 10758 0.0876557 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.371 - - -1 - 0 N - - RRN3 Arg302Trp R302W not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - RRN3 Ile162Val I162V not reviewed Insufficiently evaluated not reviewed unknown Array 106 10754 0.0098568 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RRP1 Glu309Asp E309D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - -2 - 1 N - - RRP1 Pro384Ser P384S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - RRP15 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RRP8 Pro329Ser P329S not reviewed Insufficiently evaluated not reviewed unknown Array rs17834692 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 1 - 3 - - RRP8 Ser325Gly S325G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - RRP9 Arg10Leu R10L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RRS1 Lys173Arg K173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -3 - 2 N - - RSAD2 Ser27Asn S27N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RSAD2 Leu42Arg L42R not reviewed Insufficiently evaluated not reviewed unknown Array rs17851586 167 10758 0.0155233 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 1 - 1 - - RSAD2 Lys48Arg K48R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RSBN1L Glu322Gly E322G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 6 Y 1 N - - RSC1A1 Lys54Glu K54E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 0 N - - RSF1 Arg844Gln R844Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - RSF1 Asp684Gly D684G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 4 Y 1 N - - RSHL1 Ser671Gly S671G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RSHL1 Phe252Ser F252S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RSL1D1 Asn270Ser N270S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RSL24D1 Arg30Thr R30T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - RSPH3 Glu484Lys E484K not reviewed Insufficiently evaluated not reviewed unknown Array rs12204826 224 10758 0.0208217 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - 0 - 1 N - - RSPH3 Arg398Gln R398Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10455840 224 10758 0.0208217 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - RSPH3 Arg213Trp R213W not reviewed Insufficiently evaluated not reviewed unknown Array rs41267753 637 10758 0.0592117 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.838 - - 7 Y 0 N - - RSPH4A Leu360Phe L360F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 - Y 0 - 1 N - - RSPH9 His219Tyr H219Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 - Y -1 - 1 N - - RSPRY1 Asp72Gly D72G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - RSPRY1 Phe354Leu F354L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - RTCD1 Ala207Thr A207T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.781 - - 1 - 1 N - - RTCD1 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTCD1 Glu344Asp E344D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RTCD1 Glu357Asp E357D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10754 0.00148782 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RTEL1 Arg324His R324H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTEL1 Asp704Glu D704E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RTEL1 Cys1132Tyr C1132Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RTKN Gly159Ser G159S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTKN Gly196Ser G196S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTKN Gly209Ser G209S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTL1 Arg1122Cys R1122C not reviewed Insufficiently evaluated not reviewed unknown Array 9 3176 0.00283375 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RTL1 Arg1117Gln R1117Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTL1 Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTN1 His206Gln H206Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - RTN1 His354Gln H354Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - RTN1 His774Gln H774Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.593 - - -1 - 2 - 1 - - RTN1 Leu143Pro L143P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RTN3 Glu603Gly E603G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RTN3 Val122Ile V122I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RTN3 Val141Ile V141I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RTN3 Val899Ile V899I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.348 - - -4 - 1 N - - RTN4 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RTN4 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - RTN4R Gly314Ser G314S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - RTN4RL2 Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - RTTN Ser1734Ala S1734A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9576 0.000313283 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - RTTN Val846Ile V846I not reviewed Insufficiently evaluated not reviewed unknown Array 10 9672 0.00103391 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - RUFY1 Pro144Ser P144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - RUFY1 Pro36Ser P36S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RUFY1 Leu307Ser L307S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RUFY1 Leu415Ser L415S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - RUFY1 Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RUFY1 Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10718 0.000373203 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - RUFY1 Gly423Ser G423S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RUFY1 Gly531Ser G531S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10706 9.3405e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RUFY3 Ile260Leu I260L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - -2 - 0 N - - RUFY3 Ile320Leu I320L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RUFY3 Ile260Ser I260S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - RUFY3 Ile320Ser I320S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RUFY4 Gln221Arg Q221R not reviewed Insufficiently evaluated not reviewed unknown Array 489 10000 0.0489 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RUNDC3B Leu163Ser L163S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - RUNDC3B Leu180Ser L180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - RUNX1 Asn126Ser N126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - RUNX1 Asn153Ser N153S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - RUNX2 Thr184Ala T184A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RUNX2 Thr198Ala T198A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RUSC1 Ser175Cys S175C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RUSC1 Ser234Cys S234C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RUSC1 Ser644Cys S644C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - RWDD2A Met18Val M18V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - RWDD2B Glu212Gly E212G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - RWDD2B Val183Ala V183A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - RXFP2 Leu487Ser L487S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 6 Y 0 N - - RXFP3 Leu133Phe L133F not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - RXFP4 Arg237Gln R237Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.752 - - 0 - 1 N - - RXRB Val95Ala V95A not reviewed Insufficiently evaluated not reviewed unknown Array 11 9494 0.00115863 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 5 - - RYR1 Ser750Gly S750G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.184 Y Y 2 - 2 N - - RYR1 Pro894Thr P894T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.17 Y Y 4 Y 2 N - - RYR1 Thr1741Ser T1741S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.676 Y Y -2 - 3 N - - RYR1 Gln3751Glu Q3751E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - RYR1 Gln3756Glu Q3756E not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - RYR3 Leu3565Val L3565V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - S100A3 His87Gln H87Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - S100A7A Ala93Val A93V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - S100PBP Arg398Trp R398W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SAA2 Arg89Leu R89L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 8 - - SAAL1 Ser426Gly S426G not reviewed Insufficiently evaluated not reviewed unknown Array rs28930681 365 10758 0.0339282 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAAL1 Gln337Arg Q337R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAAL1 Ile284Val I284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SAAL1 Phe189Ser F189S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SACS Asn4127Ser N4127S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.19 Y Y 0 - 2 N - - SACS Val2397Ala V2397A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 2 - 4 N - - SACS Cys2395Arg C2395R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SAE1 Glu74Lys E74K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.671 - - 0 - 1 N - - SAE1 Asn276Ile N276I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SAFB2 Gly186Glu G186E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - SAG Pro364Leu P364L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10718 0.00597126 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - SALL2 Pro843Ser P843S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SALL2 Ala724Val A724V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SALL2 Pro100Ala P100A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SALL4 Arg745Cys R745C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.892 Y Y 8 Y 4 N - - SALL4 Phe536Leu F536L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 0 - 4 N - - SALL4 Gly523Arg G523R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 6 Y 4 N - - SAMD11 Met529Val M529V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SAMD11 Gly665Ala G665A not reviewed Insufficiently evaluated not reviewed unknown Array 262 10758 0.024354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 2 N - - SAMD3 Val124Leu V124L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 0 - 0 N - - SAMD3 Ser5Pro S5P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - SAMD9 Ile332Thr I332T not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SAMD9L Ile891Val I891V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - -4 - 1 N - - SAMD9L Ala871Val A871V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 2 - 1 N - - SAMD9L Lys78Asn K78N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMM50 Arg205Gln R205Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAMM50 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SAP130 Val767Met V767M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAP130 Val802Met V802M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAP130 Ser639Cys S639C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 2 N - - SAP130 Pro579Thr P579T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SAP30BP Glu36Gly E36G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SAPS1 His53Leu H53L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SAPS2 Ser427Arg S427R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SAPS3 Asn602Thr N602T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SARDH Ser76Asn S76N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 0 - 3 N - - SARDH Gly22Cys G22C not reviewed Insufficiently evaluated not reviewed unknown Array 154 10722 0.014363 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 7 Y 1 N - - SARM1 Val184Phe V184F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - SARM1 Leu407Pro L407P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SART1 Asn291Asp N291D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - -1 - 2 N - - SART1 Ala326Val A326V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SART1 Pro484Leu P484L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 7 Y 0 N - - SART3 Pro666Ser P666S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - SART3 Arg36Ser R36S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 3 - 1 - - SASH1 Arg920Cys R920C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 8 Y 1 N - - SAT2 Tyr95His Y95H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - SATL1 Arg335Ser R335S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.597 - - 3 - 1 N - - SATL1 Gly133Asp G133D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - SBF2 Ile1789Thr I1789T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 4 N - - SBNO1 Ser264Pro S264P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 3 - 2 N - - SBNO2 His535Gln H535Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SBNO2 His592Gln H592Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10596 0.00018875 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - -1 - 0 N - - SC65 Thr363Asn T363N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCAF1 Gln993Arg Q993R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - SCAF1 Lys1231Met K1231M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCAMP2 Thr70Ile T70I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.305 - - 3 - 1 N - - SCAMP3 Thr149Met T149M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCAMP3 Thr175Met T175M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCAMP3 Pro29Ala P29A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SCAMP3 Pro55Ala P55A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SCAP Val150Ala V150A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - SCAPER Ala1140Thr A1140T not reviewed Insufficiently evaluated not reviewed unknown Array 96 10278 0.00934034 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SCAPER Ala894Thr A894T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - SCARB1 Cys384Arg C384R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SCCPDH Tyr274His Y274H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.452 - - -1 - 1 N - - SCG3 Met233Val M233V not reviewed Insufficiently evaluated not reviewed unknown Array rs35664837 716 10756 0.0665675 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - SCGBL Pro52Leu P52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - SCHIP1 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - SCIN Ile209Val I209V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SCLT1 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array 70 10756 0.006508 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - SCLT1 Val237Ala V237A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - SCLY Thr39Met T39M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 3 - 1 - - SCLY Arg189Cys R189C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - SCLY Ile270Met I270M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - SCML2 Ser547Pro S547P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - SCML4 Pro67Leu P67L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.462 - - 7 Y 1 N - - SCN10A Val1141Met V1141M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCN10A Asn789Ser N789S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCN10A Arg508Trp R508W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCN11A Ser1396Tyr S1396Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - SCN11A Ala1121Thr A1121T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - SCN11A Ala780Val A780V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - SCN11A Arg442Gly R442G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - SCN11A Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 6 Y 2 N - - SCN1A Ser1868Asn S1868N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SCN1A Leu1348Gln L1348Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN1A Thr463Ala T463A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SCN2A Pro698Thr P698T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 4 Y 1 N - - SCN2A Lys1936Arg K1936R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - -3 - 1 N - - SCN2A Thr1966Met T1966M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.322 Y - 2 - 2 N - - SCN3A Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - SCN3B Pro66His P66H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - SCN4A Ile1513Met I1513M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -1 - 4 N - - SCN4A Phe1182Cys F1182C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 4 Y 4 N - - SCN4A Pro882Gln P882Q not reviewed Insufficiently evaluated not reviewed unknown Array 32 9996 0.00320128 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 4 Y 2 N - - SCN4A Glu81Gln E81Q not reviewed Insufficiently evaluated not reviewed unknown Array 50 10214 0.00489524 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y -2 - 4 N - - SCN4A Arg31Leu R31L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10336 0.00532121 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.94 Y Y 6 Y 4 N - - SCN4B Pro91Ser P91S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 3 N - - SCN5A Pro1731His P1731H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN5A Pro1752His P1752H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN5A Pro1767His P1767H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN5A Pro1784His P1784H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN5A Pro1785His P1785H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN9A Leu1916Phe L1916F not reviewed Insufficiently evaluated not reviewed unknown Array 26 9880 0.00263158 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SCN9A Val1369Ala V1369A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SCN9A Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9894 0.000101071 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - SCNN1A Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.82 Y - -1 - 3 - 1 - - SCNN1A Met24Ile M24I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SCNN1A Met60Ile M60I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SCNN1B Asp546Asn D546N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - -1 - 3 N - - SCNN1D Pro488Ser P488S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - SCNN1D Pro554Ser P554S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10636 0.000940203 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCPEP1 Val241Ile V241I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 1 - 3 - - SCRIB Pro95Ser P95S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.141 - - 3 - 0 N - - SCRN2 Val106Ala V106A not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCRN3 Tyr240Cys Y240C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 1 - - SCTR Phe193Ile F193I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 2 N - - SCUBE1 Asp670Asn D670N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - -1 - 0 N - - SCUBE1 Pro435Thr P435T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - SCUBE2 Ala595Ser A595S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCUBE2 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - SDC1 Ala116Thr A116T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SDC1 Glu84Asp E84D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - SDC3 Val208Leu V208L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - SDC3 Ala96Pro A96P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDCBP Ser219Ile S219I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SDCBP Ser224Ile S224I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SDCBP Ser225Ile S225I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - SDCCAG1 Arg735Lys R735K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SDCCAG1 Ala483Thr A483T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 1 - 1 N - - SDCCAG8 Asp314Gly D314G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - SDCCAG8 Val322Ile V322I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - -4 - 1 - 1 - - SDCCAG8 Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SDF4 Ala355Gly A355G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - SDF4 Val298Met V298M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - SDF4 Asp70Glu D70E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - -2 - 1 N - - SDF4 Glu55Asp E55D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 2 - 1 - - SDF4 Val48Ala V48A not reviewed Insufficiently evaluated not reviewed unknown Array rs61744664 466 10754 0.0433327 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDHA Ile661Val I661V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SDHA Ile661Thr I661T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 3 - 2 - 1 - - SDHB Arg11His R11H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10754 0.00232472 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y 1 - 4 - 1 - - SDK1 Val728Ile V728I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SDK1 Gly1013Ala G1013A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - SDK1 Thr1366Met T1366M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734788 262 10758 0.024354 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SDK2 Gly701Ser G701S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDPR Gln174Glu Q174E not reviewed Insufficiently evaluated not reviewed unknown Array rs61735649 584 10738 0.0543863 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SDR16C6 Leu296Phe L296F not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SDR42E1 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10212 0.000293772 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - SDSL Arg289Trp R289W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SEC16A Ala373Glu A373E not reviewed Insufficiently evaluated not reviewed unknown Array 3 9650 0.00031088 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEC16A Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array rs41306736 237 9796 0.0241935 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEC16A Thr169Met T169M not reviewed Insufficiently evaluated not reviewed unknown Array rs7852966 319 9926 0.0321378 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - SEC22A Met101Val M101V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.423 - - 0 - 1 N - - SEC23B Arg550Gln R550Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SEC23IP Ser84Pro S84P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SEC23IP Lys139Arg K139R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -3 - 0 N - - SEC23IP Met735Ile M735I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - -1 - 0 N - - SEC23IP Gln872Pro Q872P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - SEC24A Leu846Stop L846X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SEC24C Val3Ile V3I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC24C Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - SEC24C Thr870Met T870M not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - SEC24D Asp955Gly D955G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.487 - - 4 Y 1 N - - SEC24D Glu476Gly E476G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.376 - - 6 Y 1 N - - SEC31A Pro802Leu P802L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SEC31A Pro841Leu P841L not reviewed Insufficiently evaluated not reviewed unknown Array rs35579207 300 10758 0.0278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - 7 Y 2 - 3 - - SEC31A Asp282Gly D282G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SEC31A Asp84Gly D84G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEC31B Ile1166Val I1166V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC31B Arg1108His R1108H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SEC31B Glu1103Stop E1103X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SEC31B Arg779Gln R779Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SEC31B Pro167Ala P167A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SEC31B Tyr100Cys Y100C not reviewed Insufficiently evaluated not reviewed unknown Array rs7074707 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 3 - 3 - - SECISBP2L Pro127Ala P127A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - SECTM1 Val99Met V99M not reviewed Insufficiently evaluated not reviewed unknown Array 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - SEL1L2 Ile18Thr I18T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9534 0.000209775 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SELP Ser619Ala S619A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228672 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SELP Pro512His P512H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SELPLG Gln222Glu Q222E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SELPLG Thr147Met T147M not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SELT Lys93Arg K93R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SELV Arg104Gln R104Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA3A Lys393Thr K393T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - SEMA3B Ala25Thr A25T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA3D Thr680Ala T680A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - SEMA3E Ile717Val I717V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729610 300 10758 0.0278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - -4 - 2 N - - SEMA3E Arg500Trp R500W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SEMA3E Cys342Arg C342R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SEMA3G Leu616Ser L616S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - SEMA4A Ser442Leu S442L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.03 Y - 6 Y 1 N - - SEMA4B Gly143Ser G143S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEMA4D Lys735Glu K735E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA4F Thr619Ala T619A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SEMA4G Ile501Val I501V not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEMA5A Pro700Leu P700L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.072 - - 7 Y 0 N - - SEMA5B Ile1035Thr I1035T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEMA5B Ser155Pro S155P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEMA5B Gly50Glu G50E not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA6D Glu672Gly E672G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA6D Glu685Gly E685G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA6D Glu691Gly E691G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA6D Glu747Gly E747G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.859 - - 6 Y 2 N - - SEMA6D His746Arg H746R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA6D His759Arg H759R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA6D His765Arg H765R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA6D His821Arg H821R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - SEMG1 Gly189Arg G189R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - SEMG1 Gln267Arg Q267R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SEMG1 Thr270Ala T270A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.685 - - 1 - 1 N - - SEMG1 Asp396Asn D396N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEMG1 Asp456Asn D456N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - -1 - 0 N - - SEMG2 Ser103Gly S103G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SENP3 Lys436Gln K436Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SENP7 Val918Ala V918A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SENP7 Val983Ala V983A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SENP7 Gln547Lys Q547K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SENP7 Gln612Lys Q612K not reviewed Insufficiently evaluated not reviewed unknown Array 80 10756 0.00743771 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SENP7 Arg56Cys R56C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SENP8 Glu37Gly E37G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SEPT12 Ser272Gly S272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEPT12 Ser318Gly S318G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - SEPT14 Leu242Pro L242P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - SEPT2 Leu23His L23H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SEPT4 Val174Glu V174E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEPT4 Val193Glu V193E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - 5 Y 1 N - - SEPT5 Glu229Val E229V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.406 - - 5 Y 1 N - - SEPT8 Asn150Lys N150K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPT8 Asn210Lys N210K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 1 - 2 N - - SEPT9 Pro127Arg P127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.406 Y Y 5 Y 3 N - - SEPT9 Pro138Arg P138R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 1 - - SEPT9 Pro145Arg P145R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 5 Y 4 N - - SERAC1 Phe47Ile F47I not reviewed Insufficiently evaluated not reviewed unknown Array 218 10748 0.0202828 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - SERAC1 Gly24Val G24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SERF2 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 3 - - SERGEF Ser427Phe S427F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 5 Y 1 N - - SERHL2 Asn255Asp N255D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - SERINC2 Asp87Asn D87N not reviewed Insufficiently evaluated not reviewed unknown Array 134 10756 0.0124582 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - SERINC3 Met280Val M280V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 1 N - - SERPINA1 Gly172Arg G172R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SERPINA11 Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SERPINA3 Ala14Val A14V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SERPINA4 Gln250Stop Q250X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SERPINA5 Ser75Gly S75G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - SERPINB10 Met311Leu M311L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SERPINB12 Lys267Asn K267N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - SERPINB3 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERPINB3 Met302Thr M302T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SERPINB8 Leu85Trp L85W not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SERPINB8 Lys192Arg K192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SERPINB9 Ile13Thr I13T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 3 - 2 N - - SERPINF1 Tyr321Stop Y321X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - SERPINH1 Ile161Leu I161L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - SERPINI1 Gly77Glu G77E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 - - 6 Y 2 N - - SERPINI2 Leu317Pro L317P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - SERPINI2 Lys42Arg K42R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -3 - 0 N - - SERTAD4 Ser72Phe S72F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 5 Y 0 N - - SESN1 Ser326Arg S326R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - SETBP1 Glu208Lys E208K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETBP1 Asn913Asp N913D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 2 N - - SETD1B Leu1312Pro L1312P not reviewed Insufficiently evaluated not reviewed unknown Array 68 3234 0.0210266 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETD2 Thr2037Ala T2037A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SETD3 Arg468Cys R468C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SETD4 Ser434Cys S434C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - SETD4 Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SETD5 Arg900Cys R900C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SETD5 Thr1308Arg T1308R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 3 - 2 - 2 - - SETD6 His228Arg H228R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SETD6 His252Arg H252R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SETD6 Glu340Stop E340X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SETD6 Glu364Stop E364X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SETDB1 Cys819Stop C819X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SETDB2 Gly404Arg G404R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SETDB2 Gly416Arg G416R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SETX Leu1544Val L1544V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SETX Ala1406Gly A1406G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SETX Gln1104Glu Q1104E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SETX Pro1061Ala P1061A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SEZ6 Gln854Arg Q854R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737974 176 10286 0.0171106 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEZ6 Val734Ile V734I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SF3A1 Trp437Arg W437R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SF3A1 Trp502Arg W502R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - SF3A1 Val322Ile V322I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SF3A1 Val387Ile V387I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.349 - - -4 - 1 N - - SF3A3 Gln472Arg Q472R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - SF3B1 Gln670His Q670H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SF3B3 Ser794Thr S794T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SFI1 His766Leu H766L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SFI1 His797Leu H797L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743940 70 10460 0.00669216 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SFI1 Ala1032Ser A1032S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SFI1 Ala1063Ser A1063S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SFI1 Gln1177Pro Q1177P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SFI1 Gln1208Pro Q1208P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - 4 Y 0 N - - SFMBT1 Glu588Gly E588G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - SFMBT1 Thr66Ile T66I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SFMBT2 Ser321Leu S321L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - SFRP1 Ile198Val I198V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - SFRP4 Ser196Gly S196G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - SFRP4 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 2 - 0 N - - SFRP5 Ala251Thr A251T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.791 - - 1 - 1 N - - SFRS15 Ala632Val A632V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFRS15 Ala647Val A647V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFRS15 Val113Gly V113G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SFRS15 Val98Gly V98G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SFRS18 Ser376Pro S376P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - SFRS2IP Ala1267Asp A1267D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SFRS4 Val165Ala V165A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFRS5 Gly26Arg G26R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SFRS8 His59Arg H59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFTPB Leu176Phe L176F not reviewed Insufficiently evaluated not reviewed unknown Array rs3024801 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.256 Y - 0 - 2 N - - SFXN2 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SFXN2 Gly272Arg G272R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SGCB Ser302Gly S302G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SGIP1 Leu371Gln L371Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SGK196 Asp336Asn D336N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SGK269 Asn366Ser N366S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGOL2 His587Arg H587R not reviewed Insufficiently evaluated not reviewed unknown Array 25 9506 0.00262992 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.869 - - 1 - 2 N - - SGSH Ala234Gly A234G not reviewed Insufficiently evaluated not reviewed unknown Array 37 10732 0.00344763 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.255 Y - 1 - 2 N - - SGSM2 Gly209Cys G209C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - SH2D2A Arg272Cys R272C not reviewed Insufficiently evaluated not reviewed unknown Array rs12072861 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 1 - 3 - - SH2D3A Ser173Thr S173T not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SH2D3A Gly164Glu G164E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH2D3A Ser42Pro S42P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SH2D4A Ala17Val A17V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - SH2D4A Glu284Lys E284K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D4B Gln118His Q118H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH2D4B Gln69His Q69H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH2D4B Ser213Asn S213N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D4B Ser262Asn S262N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH3BGR Gly119Val G119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SH3BGR Gly119Ala G119A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3BGR Gly230Val G230V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SH3BGR Gly230Ala G230A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3BP5L His360Arg H360R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 2 N - - SH3D19 Pro372Arg P372R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SH3D19 Pro408Arg P408R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 5 Y 1 N - - SH3GLB1 Gln137Lys Q137K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.555 - - -2 - 1 N - - SH3GLB2 Arg251Leu R251L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - 6 Y 1 N - - SH3KBP1 Phe239Tyr F239Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SH3KBP1 Phe276Tyr F276Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.643 - - -4 - 1 N - - SH3PXD2B Pro571Leu P571L not reviewed Insufficiently evaluated not reviewed unknown Array 232 10758 0.0215653 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - SH3PXD2B Gly323Arg G323R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - SH3PXD2B Pro295Gln P295Q not reviewed Insufficiently evaluated not reviewed unknown Array 342 10758 0.0317903 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - SH3RF1 Ala634Val A634V not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3RF2 Gln339Stop Q339X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SH3RF2 Trp592Gly W592G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 6 - - SH3RF2 Trp592Stop W592X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SH3TC1 Ser311Leu S311L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH3TC1 Arg617Trp R617W not reviewed Insufficiently evaluated not reviewed unknown Array 30 10098 0.00297089 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SH3TC1 Ala1150Val A1150V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10550 0.00161137 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3TC2 Gln928His Q928H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - SH3TC2 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.13 Y Y 1 - 2 N - - SHANK2 Arg469Cys R469C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SHANK2 Val129Met V129M not reviewed Insufficiently evaluated not reviewed unknown Array 93 3234 0.028757 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHBG Gln256Arg Q256R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHBG Gln353Arg Q353R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHBG Gln371Arg Q371R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SHC3 Thr408Met T408M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHC4 Cys412Arg C412R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - SHC4 Glu227Asp E227D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - -2 - 1 N - - SHH Lys157Arg K157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -3 - 4 N - - SHISA2 Lys146Arg K146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -3 - 2 N - - SHISA2 Val116Met V116M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.578 - - 0 - 1 N - - SHMT2 Ala26Thr A26T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHOC2 Ile545Thr I545T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.971 Y - 3 - 3 N - - SHOC2 Tyr578His Y578H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -1 - 3 N - - SHPK Val214Ile V214I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SHQ1 Ser9Gly S9G not reviewed Insufficiently evaluated not reviewed unknown Array 355 10758 0.0329987 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 2 - 5 - - SHROOM1 Ser519Phe S519F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - SHROOM1 Ser384Tyr S384Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - SHROOM2 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 14 8751 0.00159982 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - SHROOM2 Pro437Ser P437S not reviewed Insufficiently evaluated not reviewed unknown Array 86 8761 0.00981623 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - SHROOM2 Arg534Gln R534Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744807 80 8723 0.00917116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - SHROOM2 Asp942Glu D942E not reviewed Insufficiently evaluated not reviewed unknown Array rs16985780 140 8693 0.0161049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - -2 - 1 N - - SHROOM3 His715Asn H715N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHROOM3 Ala768Thr A768T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHROOM3 Arg860Gln R860Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHROOM3 Ser1243Pro S1243P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SHROOM3 Ala1557Val A1557V not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHROOM4 Val892Ala V892A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SHROOM4 Ala833Thr A833T not reviewed Insufficiently evaluated not reviewed unknown Array rs61751944 166 8761 0.0189476 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHROOM4 Thr543Ser T543S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748324 183 8761 0.020888 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.164 - - -2 - 0 N - - SHROOM4 Gly430Cys G430C not reviewed Insufficiently evaluated not reviewed unknown Array rs61748283 161 8761 0.0183769 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - SHROOM4 His147Tyr H147Y not reviewed Insufficiently evaluated not reviewed unknown Array 185 8761 0.0211163 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.882 - - -1 - 2 N - - SI Asp1715Gly D1715G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 9 - - SI Asn1005Thr N1005T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SI Ile432Val I432V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 4 - - SI Ser200Gly S200G not reviewed Insufficiently evaluated not reviewed unknown Array 132 10754 0.0122745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - SIAH1 Ala101Val A101V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - SIAH1 Ala132Val A132V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC1 Gly195Ser G195S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.685 - - 2 - 1 N - - SIGLEC10 Thr603Lys T603K not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIGLEC10 Ser297Leu S297L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10754 0.0098568 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIGLEC15 Ser178Gly S178G not reviewed Insufficiently evaluated not reviewed unknown Array 354 10288 0.034409 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC15 Thr236Met T236M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SIGLEC9 Ser125Asn S125N not reviewed Insufficiently evaluated not reviewed unknown Array rs200658 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC9 Arg423His R423H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - SIK1 Val434Leu V434L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10702 0.000560642 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIK1 Ala264Thr A264T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10744 0.0018615 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIK2 Asp896His D896H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - SIL1 Gln80Arg Q80R not reviewed Insufficiently evaluated not reviewed unknown Array rs35581768 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - SIPA1 Gly921Val G921V not reviewed Insufficiently evaluated not reviewed unknown Array rs72556578 360 10758 0.0334635 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.574 - - 8 Y 1 N - - SIPA1L1 Ala1109Thr A1109T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - SIPA1L1 Arg1578Gln R1578Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.959 - - 0 - 2 N - - SIPA1L2 Met369Ile M369I not reviewed Insufficiently evaluated not reviewed unknown Array 20 9896 0.00202102 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SIPA1L2 Thr49Ala T49A not reviewed Insufficiently evaluated not reviewed unknown Array rs16857502 172 9692 0.0177466 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SIPA1L3 Asp33Glu D33E not reviewed Insufficiently evaluated not reviewed unknown Array 21 10738 0.00195567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - SIPA1L3 Tyr588Stop Y588X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SIPA1L3 Thr724Met T724M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SIPA1L3 Ala1357Thr A1357T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIRPA Ala389Pro A389P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRPB1 Val165Ala V165A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.441 - - 2 - 1 N - - SIRPB1 Val131Leu V131L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - SIRPB1 Leu101Met L101M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SIRPB2 Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRPB2 Ala217Val A217V not reviewed Insufficiently evaluated not reviewed unknown Array 3 7820 0.000383631 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - SIRPD Ile104Met I104M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - SIRT2 Pro336Leu P336L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIRT2 Pro373Leu P373L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - SIRT3 Gln246Arg Q246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIRT3 Gln388Arg Q388R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.104 - - 0 - 0 N - - SIRT3 Arg214Trp R214W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 4 - - SIRT3 Arg72Trp R72W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 3 - 4 - - SIRT5 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SIRT5 Cys166Arg C166R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SIRT6 Asp194Gly D194G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - SIRT7 Lys159Arg K159R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - SIRT7 Ile152Thr I152T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - SKAP1 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - SKAP2 Glu355Gly E355G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SKIV2L Leu1025Met L1025M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLA Leu256Pro L256P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 7 Y 2 - 1 - - SLA Leu273Pro L273P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLA Leu296Pro L296P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 10 - - SLAMF1 Leu193Phe L193F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SLAMF6 Pro319Ser P319S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLAMF7 Val121Met V121M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.531 - - 0 - 1 N - - SLC10A5 His293Arg H293R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SLC10A5 Leu201Stop L201X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC10A6 Ile196Thr I196T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 3 - 0 N - - SLC10A7 Val14Ile V14I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC11A1 Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - SLC12A1 Ser32Gly S32G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC12A1 Val317Ile V317I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SLC12A2 Glu397Asp E397D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 1 - - SLC12A2 Ile775Val I775V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SLC12A3 Thr9Met T9M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC12A3 Ala513Thr A513T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SLC12A3 Ala514Thr A514T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SLC12A3 Lys925Arg K925R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - SLC12A3 Lys933Arg K933R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - SLC12A3 Lys934Arg K934R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - SLC12A4 Ser640Gly S640G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC12A4 Ser665Gly S665G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC12A4 Ser671Gly S671G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.039 - - 2 - 0 N - - SLC12A4 Ser673Gly S673G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC12A5 Pro384Ala P384A not reviewed Insufficiently evaluated not reviewed unknown Array rs16985442 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC12A5 Pro407Ala P407A not reviewed Insufficiently evaluated not reviewed unknown Array 491 10758 0.0456405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC12A5 Pro520Ser P520S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC12A5 Pro543Ser P543S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - SLC12A7 Tyr1054Stop Y1054X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC12A7 Arg405His R405H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - SLC12A8 Glu422Asp E422D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SLC12A9 Asp249Gly D249G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC12A9 Leu362Pro L362P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - SLC12A9 Ala839Thr A839T not reviewed Insufficiently evaluated not reviewed unknown Array 15 9600 0.0015625 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - SLC13A1 Gly556Asp G556D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SLC13A2 Val129Leu V129L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC13A2 Val37Leu V37L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC13A2 Val80Leu V80L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC13A2 Ile233Val I233V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC13A2 Ile276Val I276V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SLC13A2 Ile325Val I325V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC13A3 Thr54Met T54M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SLC13A3 Thr7Met T7M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC13A4 Leu607Pro L607P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC14A1 Val10Met V10M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC14A1 Val66Met V66M not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC14A1 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 249 10758 0.0231456 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC14A1 Val76Ile V76I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC14A2 Val304Met V304M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC14A2 Met731Ile M731I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - SLC15A1 Pro586Arg P586R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - SLC15A1 Asn577Ser N577S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SLC15A1 Val558Ala V558A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SLC15A1 Ala553Thr A553T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC15A1 Gly419Ala G419A not reviewed Insufficiently evaluated not reviewed unknown Array rs4646227 554 10758 0.0514966 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC15A1 Met361Thr M361T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SLC15A1 Lys227Glu K227E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLC15A1 Glu23Gly E23G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SLC15A1 Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 1 - 5 - - SLC15A1 Val21Phe V21F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.171 - - 3 - 1 - 5 - - SLC15A2 Ile262Val I262V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC15A2 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC15A4 Ala577Val A577V not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.275 - - 2 - 1 N - - SLC16A12 Phe443Leu F443L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - SLC16A14 Thr246Ile T246I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - 3 - 0 N - - SLC16A3 Gln205Arg Q205R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SLC16A3 Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10752 0.0014881 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC16A4 Ser337Pro S337P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - SLC16A5 Glu51Lys E51K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 0 - 0 N - - SLC16A6 Gln112Lys Q112K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC16A7 Thr471Ala T471A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC16A9 Phe469Ser F469S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC16A9 Asp461Glu D461E not reviewed Insufficiently evaluated not reviewed unknown Array 356 10758 0.0330917 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - -2 - 1 N - - SLC17A1 Arg466Cys R466C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC17A2 Ile327Val I327V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - SLC17A2 Gly10Asp G10D not reviewed Insufficiently evaluated not reviewed unknown Array rs111909699 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - SLC17A4 Leu347Arg L347R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 6 Y 2 N - - SLC17A4 Ser472Leu S472L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC17A5 Val442Ile V442I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SLC17A7 Asp520Glu D520E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC17A9 Gln425Stop Q425X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC18A1 Glu133Asp E133D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - SLC19A2 Asn385Ser N385S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - SLC1A1 Phe50Tyr F50Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16921449 216 10758 0.0200781 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SLC1A2 Val385Ala V385A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - SLC1A2 Met285Thr M285T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SLC1A3 Tyr288Cys Y288C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - SLC1A4 Glu266Lys E266K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A4 Glu486Lys E486K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SLC20A2 Gly525Arg G525R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SLC20A2 Phe233Ser F233S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.587 - - 5 Y 1 N - - SLC22A1 Ser14Phe S14F not reviewed Insufficiently evaluated not reviewed unknown Array rs34447885 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 10 - - SLC22A1 Ser14Cys S14C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - SLC22A1 Leu23Val L23V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 1 - 5 - - SLC22A1 Leu85Val L85V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - SLC22A1 Cys88Ser C88S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 3 - 2 - - SLC22A1 Gly220Ala G220A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - Y 0.905 - - 1 - 4 N 7 - - SLC22A1 Val461Leu V461L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 6 - - SLC22A1 Gly465Arg G465R pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs34059508 208 10758 0.0193344 1 0 1 2 2 - - - - - - - - - - - - - - - Y 0.99 - - 6 Y 4 N 10 - - SLC22A1 Arg488Met R488M not reviewed Insufficiently evaluated not reviewed unknown Array rs35270274 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC22A1 Arg488Thr R488T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - SLC22A10 Arg172Stop R172X not reviewed Insufficiently evaluated not reviewed unknown Array 16 10240 0.0015625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC22A10 Ala193Thr A193T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10372 0.00173544 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC22A10 Arg203His R203H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC22A10 Arg406Gln R406Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 9726 0.00164508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A10 Arg434His R434H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10504 0.00180883 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC22A10 Pro522Ser P522S not reviewed Insufficiently evaluated not reviewed unknown Array 16 9822 0.001629 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 3 - 1 N - - SLC22A13 Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - SLC22A13 Arg102His R102H not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - SLC22A13 Phe266Leu F266L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - 0 - 1 N - - SLC22A14 Thr502Ile T502I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A14 Glu569Lys E569K not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A2 Val502Glu V502E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 5 Y 1 N - - SLC22A2 Met165Ile M165I not reviewed Insufficiently evaluated not reviewed unknown Array rs8177507 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 1 - 10 - - SLC22A20 Gly178Glu G178E not reviewed Insufficiently evaluated not reviewed unknown Array 119 9940 0.0119718 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - SLC22A23 Gly390Ser G390S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC22A23 Gly671Ser G671S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10738 0.00195567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SLC22A24 Val10Met V10M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A25 Cys269Arg C269R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 8 Y 2 N - - SLC22A3 Pro126Arg P126R not reviewed Insufficiently evaluated not reviewed unknown Array 5 8156 0.000613045 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - SLC22A8 Arg277Gln R277Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - SLC22A9 Ser81Pro S81P not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - SLC23A2 Asp191Gly D191G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - SLC24A1 Gly608Asp G608D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC24A1 Gly882Ala G882A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC24A2 Lys33Arg K33R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - SLC24A4 Ala189Gly A189G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC24A4 Ala236Gly A236G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SLC24A4 Ser298Asn S298N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SLC24A4 Ser326Asn S326N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC24A4 Ser345Asn S345N not reviewed Insufficiently evaluated not reviewed unknown Array 294 10758 0.0273285 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC24A4 Cys439Arg C439R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC24A4 Cys467Arg C467R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC24A4 Cys486Arg C486R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC24A5 Pro299Ser P299S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SLC25A13 Ser62Gly S62G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SLC25A14 Asp278Gly D278G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC25A14 Asp281Gly D281G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - SLC25A17 Thr101Ala T101A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SLC25A19 Tyr113Stop Y113X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - SLC25A21 Pro108Ser P108S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SLC25A23 His369Gln H369Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC25A24 Tyr11Cys Y11C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC25A34 His301Pro H301P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.236 - - 5 Y 1 N - - SLC25A36 Thr238Ala T238A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.221 - - 1 - 1 N - - SLC25A39 Met329Thr M329T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A39 Met337Thr M337T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - SLC25A42 Arg28His R28H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC25A46 Leu116Ser L116S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - SLC25A5 Lys296Asn K296N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC26A1 Gly368Ser G368S not reviewed Insufficiently evaluated not reviewed unknown Array 175 10476 0.0167048 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A10 Pro98Ala P98A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - SLC26A11 Asp337Glu D337E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC26A11 Tyr401Cys Y401C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC26A11 Thr441Ser T441S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC26A11 Gly452Ser G452S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A11 Gln568His Q568H not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC26A4 Val609Gly V609G not reviewed Insufficiently evaluated not reviewed unknown Array rs17154335 536 10758 0.0498234 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 8 - - SLC26A4 Gly740Ser G740S not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 8 - - SLC26A6 Arg517Pro R517P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC26A6 Arg538Pro R538P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC26A6 Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A6 Ala472Val A472V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A8 Glu802Lys E802K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC26A8 Glu907Lys E907K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC26A8 Ser588Cys S588C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC26A8 Ser693Cys S693C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - SLC26A9 Ile384Thr I384T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC26A9 Ile52Thr I52T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC27A3 Ala646Ser A646S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC27A3 Tyr663His Y663H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SLC27A4 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array 210 10758 0.0195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 1 - - SLC27A4 Cys188Gly C188G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 7 Y 0 N - - SLC27A5 Asp369Asn D369N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - SLC27A6 Leu23Pro L23P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - SLC28A1 Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10502 9.5219e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC28A3 Ala556Val A556V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - SLC28A3 Ser5Thr S5T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 7 - - SLC29A1 Glu391Gln E391Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 1 - 7 - - SLC29A3 Leu281Pro L281P not reviewed Insufficiently evaluated not reviewed unknown Array 220 10758 0.0204499 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SLC2A1 Tyr132His Y132H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y -1 - 2 N - - SLC2A10 Ile537Val I537V not reviewed Insufficiently evaluated not reviewed unknown Array rs7348121 238 10758 0.0221231 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SLC2A11 Val131Met V131M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Val134Met V134M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A11 Val138Met V138M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A13 Leu233Pro L233P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 7 Y 0 N - - SLC2A14 Leu107Pro L107P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 7 Y 2 N - - SLC2A4 Glu443Ala E443A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLC2A7 Cys385Ser C385S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - SLC2A7 Thr235Ala T235A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - SLC2A7 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC30A10 Asp438Gly D438G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC30A2 Ser150Cys S150C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC30A2 Ser199Cys S199C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC30A2 Trp24Arg W24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC30A7 His189Arg H189R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - SLC30A8 Arg325Gln R325Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16889462 416 10758 0.0386689 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC31A1 Ile152Met I152M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 2 N - - SLC32A1 Ser423Gly S423G not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SLC34A1 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 0 - 1 N - - SLC34A1 Asn559Ser N559S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SLC34A2 Ile312Met I312M not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC34A2 Trp413Arg W413R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SLC34A3 Ala193Val A193V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - 2 - 1 N - - SLC35A5 Gly257Glu G257E not reviewed Insufficiently evaluated not reviewed unknown Array 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SLC35A5 Ala363Val A363V not reviewed Insufficiently evaluated not reviewed unknown Array rs61738676 208 10756 0.019338 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.939 - - 2 - 2 N - - SLC35F1 Cys198Arg C198R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SLC35F5 Cys399Tyr C399Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SLC35F5 Leu37His L37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.39 - - 6 Y 1 N - - SLC36A2 Lys290Arg K290R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.109 - - -3 - 0 N - - SLC36A3 Ser216Leu S216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SLC36A3 Ser257Leu S257L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC36A4 Thr479Ala T479A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC36A4 Ser199Pro S199P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC37A1 Ala74Val A74V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC37A1 Val305Ile V305I not reviewed Insufficiently evaluated not reviewed unknown Array 272 10758 0.0252835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC37A3 Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array 383 10758 0.0356014 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - SLC37A4 Glu427Lys E427K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC37A4 Leu175Gln L175Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SLC38A10 Pro1032Leu P1032L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740864 219 9906 0.0221078 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC38A10 Pro448Leu P448L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 7 Y 0 N - - SLC38A5 Met327Leu M327L not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.218 - - -3 - 1 N - - SLC38A5 Met62Val M62V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.682 - - 0 - 1 N - - SLC38A6 Ala288Thr A288T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC38A6 Ser292Gly S292G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - SLC38A8 Phe435Leu F435L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC38A9 Glu94Lys E94K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 0 - 1 N - - SLC39A10 Gly695Glu G695E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.698 - - 6 Y 1 N - - SLC39A10 Met815Thr M815T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SLC39A11 Leu133Pro L133P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC39A11 His5Arg H5R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 1 - 0 N - - SLC39A12 Thr244Met T244M not reviewed Insufficiently evaluated not reviewed unknown Array rs7899328 175 10758 0.016267 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.802 - - 2 - 1 N - - SLC39A12 Asn268Thr N268T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SLC39A12 Asp332Asn D332N not reviewed Insufficiently evaluated not reviewed unknown Array rs62618669 178 10758 0.0165458 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SLC39A12 Ser370Gly S370G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - SLC39A12 Glu649Gly E649G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC39A12 Glu686Gly E686G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - 6 Y 1 N - - SLC39A4 Gly369Ser G369S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SLC39A4 Gly394Ser G394S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC39A4 Ser153Cys S153C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC39A4 Ser178Cys S178C not reviewed Insufficiently evaluated not reviewed unknown Array 30 10716 0.00279955 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC39A4 Val27Ala V27A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC39A5 Arg130Cys R130C not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC39A7 Gly124Arg G124R not reviewed Insufficiently evaluated not reviewed unknown Array rs35690712 298 10192 0.0292386 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - SLC3A1 Tyr371His Y371H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.972 Y - -1 - 3 N - - SLC3A1 Gly421Ala G421A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - SLC3A2 Gly27Asp G27D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SLC40A1 Thr328Ala T328A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 1 - 4 - 2 - - SLC41A2 Arg529Gly R529G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 6 Y 0 N - - SLC43A2 Glu393Gly E393G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - SLC43A3 Ile490Thr I490T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC43A3 Cys382Arg C382R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC44A2 Ile587Val I587V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC44A2 Ile589Val I589V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC44A3 Thr166Lys T166K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC44A3 Thr214Lys T214K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC44A3 Asn220Lys N220K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC44A3 Asn268Lys N268K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC44A3 Gln411His Q411H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC44A3 Gln459His Q459H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC44A3 Ile469Thr I469T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC44A3 Ile517Thr I517T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC45A2 Ile415Thr I415T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 3 - 4 N - - SLC45A4 Cys730Arg C730R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC45A4 Ala316Ser A316S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC46A2 Gln197His Q197H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC46A2 Gly167Ser G167S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742087 385 10748 0.0358206 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC46A2 Gly95Glu G95E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC47A1 Arg319Gln R319Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC47A2 Ala549Val A549V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC47A2 Ala585Val A585V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SLC47A2 Arg532Ser R532S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC47A2 Arg568Ser R568S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.099 - - 3 - 0 N - - SLC4A1 Val862Ile V862I not reviewed Insufficiently evaluated not reviewed unknown Array rs5026 356 10758 0.0330917 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 2 - 1 - - SLC4A11 Arg347Gln R347Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - SLC4A1AP Gln214Arg Q214R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC4A1AP Lys642Arg K642R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - SLC4A4 Ala918Asp A918D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - SLC4A4 Ala962Asp A962D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 5 Y 3 N - - SLC4A5 Val897Ala V897A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.609 - - 2 - 1 N - - SLC4A5 Ser428Phe S428F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.966 - - 5 Y 2 N - - SLC4A8 Tyr374Cys Y374C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SLC5A11 Phe258Leu F258L not reviewed Insufficiently evaluated not reviewed unknown Array rs35993597 408 10758 0.0379253 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC5A11 Pro513Leu P513L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC5A11 Thr530Met T530M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SLC5A12 Val8Ile V8I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - SLC5A3 Ala490Thr A490T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC5A4 Ser231Arg S231R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 3 - 0 N - - SLC5A6 Leu573Val L573V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SLC5A8 Arg609Cys R609C not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.911 - - 8 Y 2 N - - SLC5A8 Leu446Pro L446P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - SLC5A8 Phe251Val F251V not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.618 - - 3 - 2 - 2 - - SLC5A9 Met154Ile M154I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - -1 - 0 N - - SLC5A9 Met179Ile M179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC5A9 Ala224Val A224V not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - SLC5A9 Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC5A9 Ser307Leu S307L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 6 Y 1 N - - SLC5A9 Ser332Leu S332L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC6A12 Ser591Asn S591N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A14 Asp194Gly D194G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - SLC6A16 Arg459Gly R459G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - SLC6A16 Ser108Arg S108R not reviewed Insufficiently evaluated not reviewed unknown Array rs35860981 152 9952 0.0152733 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 3 - 1 - 3 - - SLC6A17 Ala57Pro A57P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 2 - - SLC6A17 Leu355Pro L355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 7 Y 0 N - - SLC6A18 Tyr60Cys Y60C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SLC6A18 Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array 560 10756 0.052064 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 - 2 - - SLC6A19 Glu217Gly E217G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.987 Y - 6 Y 3 N - - SLC6A20 Lys202Glu K202E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A20 Lys239Glu K239E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - SLC6A4 Met370Val M370V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.536 Y Y 0 - 3 N - - SLC7A1 Leu231Pro L231P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SLC7A13 Glu470Lys E470K not reviewed Insufficiently evaluated not reviewed unknown Array rs9693999 349 10750 0.0324651 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - SLC7A13 Leu84Pro L84P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - SLC7A4 Ile8Thr I8T not reviewed Insufficiently evaluated not reviewed unknown Array 80 10754 0.00743909 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC7A5 Asn230Lys N230K not reviewed Insufficiently evaluated not reviewed unknown Array rs1060250 195 10758 0.018126 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 7 - - SLC8A1 Asn838Ser N838S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC8A1 Asn861Ser N861S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC8A1 Asn869Ser N869S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC8A1 Asn874Ser N874S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC8A3 Met261Thr M261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SLC8A3 Leu23Phe L23F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - SLC9A1 Ile109Thr I109T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 3 - 2 N - - SLC9A10 Phe359Leu F359L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC9A11 Ser328Ile S328I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC9A11 Thr33Met T33M not reviewed Insufficiently evaluated not reviewed unknown Array 218 10758 0.020264 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SLC9A2 Arg712Lys R712K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - -3 - 1 N - - SLC9A4 Ala455Ser A455S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.366 - - -1 - 1 N - - SLC9A6 Tyr153Cys Y153C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - SLC9A8 Val456Ala V456A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - SLC9A9 Asn411Ser N411S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - SLC9A9 Leu236Ser L236S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - SLCO1A2 Val614Ile V614I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLCO1A2 Thr277Ser T277S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLCO1B1 Ile353Asn I353N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - SLCO1B1 Asn432Tyr N432Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - SLCO1B1 Gly522Ser G522S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SLCO1B1 Leu637His L637H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLCO1B1 Asp655Val D655V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - SLCO1C1 Asp134Gly D134G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLCO1C1 Asp203Gly D203G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLCO1C1 Asp252Gly D252G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - SLCO1C1 Val569Phe V569F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLCO1C1 Val687Phe V687F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLCO2B1 His163Tyr H163Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLCO2B1 His185Tyr H185Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -1 - 1 N - - SLCO2B1 His41Tyr H41Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLCO2B1 Gly270Ser G270S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLCO2B1 Gly392Ser G392S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLCO2B1 Gly414Ser G414S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - SLCO4A1 Asp25His D25H not reviewed Insufficiently evaluated not reviewed unknown Array rs35183172 65 10692 0.00607931 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - SLCO4C1 Cys642Arg C642R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLCO6A1 Gln199Pro Q199P not reviewed Insufficiently evaluated not reviewed unknown Array 25 10750 0.00232558 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - SLCO6A1 Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SLCO6A1 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array 25 10754 0.00232472 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.191 - - -4 - 0 N - - SLCO6A1 Gly18Glu G18E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLFN11 Ser713Asn S713N not reviewed Insufficiently evaluated not reviewed unknown Array 240 10758 0.022309 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - SLFN12 Met254Val M254V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - SLFN12L Arg603His R603H not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLFN12L Val354Ala V354A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLFN13 Gln224His Q224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - -1 - 1 N - - SLFN13 Asp115Gly D115G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - SLFN14 Leu905Phe L905F not reviewed Insufficiently evaluated not reviewed unknown Array rs9907259 235 3234 0.0726654 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - SLFN5 Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 3 - 2 - - SLFN5 Pro698Ala P698A not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - SLFNL1 Pro317Ser P317S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.221 - - 3 - 1 N - - SLIT1 Ser1167Gly S1167G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - SLIT2 Phe696Leu F696L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - SLIT3 Leu1326Gln L1326Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - SLIT3 Ser662Pro S662P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.706 - - 3 - 1 N - - SLITRK3 Thr527Ile T527I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLITRK3 Val177Ala V177A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLITRK4 Lys381Arg K381R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - SLITRK5 Glu233Gly E233G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - SLITRK5 Thr303Met T303M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SLITRK6 Gly86Glu G86E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - SLITRK6 Leu25Phe L25F not reviewed Insufficiently evaluated not reviewed unknown Array rs12863734 196 9694 0.0202187 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 4 - - SLK Ser57Asn S57N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SLK Ile907Thr I907T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - SLMAP Glu338Gly E338G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SLTM His934Gln H934Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLTM His952Gln H952Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLU7 Asn553Ser N553S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLURP1 Gly86Val G86V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.617 - - 8 Y 1 N - - SMAD2 Arg280Gly R280G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SMAD2 Arg310Gly R310G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SMAD7 Pro208Ser P208S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - SMAD9 Ser341Arg S341R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMAD9 Ser378Arg S378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 3 - 1 N - - SMARCA2 Trp620Stop W620X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SMARCA2 Glu1224Asp E1224D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - SMARCA4 Cys1205Tyr C1205Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - SMARCA5 Phe92Leu F92L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.538 - - 0 - 1 N - - SMARCA5 Tyr94Stop Y94X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - SMARCA5 Thr146Ala T146A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - SMARCAD1 Val774Ala V774A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - SMARCAD1 Val776Ala V776A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMARCAL1 Val512Met V512M not reviewed Insufficiently evaluated not reviewed unknown Array rs35087810 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.015 - Y 0 - 1 N - - SMARCB1 Trp122Cys W122C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SMARCB1 Trp131Cys W131C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 7 Y 3 N - - SMARCB1 Pro342Ser P342S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SMARCB1 Pro351Ser P351S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 3 - 3 N - - SMARCC1 Met1029Val M1029V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMARCC2 Thr1056Ala T1056A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMARCC2 Thr1087Ala T1087A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMARCC2 Ser754Gly S754G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - SMARCC2 Ser785Gly S785G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMARCC2 Arg444Trp R444W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - SMARCC2 Thr245Ala T245A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SMARCD2 Ile465Thr I465T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMARCD2 Ile486Thr I486T not reviewed Insufficiently evaluated not reviewed unknown Array rs1130111 52 9978 0.00521147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMC1A Asn108Ser N108S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 0 - 4 N - - SMC2 Val79Ala V79A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMC2 Gly1051Cys G1051C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMC2 Ser1144Pro S1144P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMC3 Trp904Arg W904R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - SMC4 Glu51Gly E51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - SMC4 Lys680Arg K680R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - SMC5 Glu27Gln E27Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SMC6 Met759Thr M759T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.825 - - 2 - 1 N - - SMC6 Leu488Pro L488P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - SMC6 Lys378Arg K378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - SMC6 Gly94Asp G94D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 4 Y 2 N - - SMCP Cys26Ser C26S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - SMCP Lys62Arg K62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - SMCR7 Arg259His R259H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - SMCR7 Arg270His R270H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SMCR7L Thr141Ser T141S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SMCR8 Leu493Phe L493F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - SMCR8 Gly553Glu G553E not reviewed Insufficiently evaluated not reviewed unknown Array rs9911649 413 10758 0.03839 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - SMEK2 Thr321Ala T321A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - SMEK2 Thr68Ser T68S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - SMEK2 Val10Ala V10A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.687 - - 2 - 2 - 1 - - SMG5 Arg237His R237H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - SMG6 Arg1264Gln R1264Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2232483 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SMG6 Val915Ala V915A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.251 - - 2 - 1 N - - SMG7 Pro779Leu P779L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMG7 Pro821Leu P821L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMG7 Pro867Leu P867L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SMO Pro743Thr P743T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - SMPD1 Arg498Gln R498Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SMPD1 Arg542Gln R542Q not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SMPD3 Arg92Cys R92C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SMTN Pro237Leu P237L not reviewed Insufficiently evaluated not reviewed unknown Array 114 10734 0.0106205 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMTNL1 Asn89Ile N89I not reviewed Insufficiently evaluated not reviewed unknown Array 161 10098 0.0159438 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMTNL2 Arg315His R315H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SMTNL2 Arg459His R459H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - SMU1 Met278Ile M278I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - -1 - 2 N - - SMURF2 Asn105Ser N105S not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMYD1 His405Gln H405Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.446 - - -1 - 1 N - - SMYD2 Ile198Thr I198T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - 3 - 1 N - - SMYD2 Met384Val M384V not reviewed Insufficiently evaluated not reviewed unknown Array rs34259050 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - SNAI3 Ala281Thr A281T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10750 0.00139535 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNAI3 Leu55Val L55V not reviewed Insufficiently evaluated not reviewed unknown Array 200 10692 0.0187056 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SNAP23 Ile16Met I16M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - SNAP29 Phe116Leu F116L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 1 N - - SNAP47 Gly119Arg G119R not reviewed Insufficiently evaluated not reviewed unknown Array rs12239037 262 10758 0.024354 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - SNAPC1 Arg312Gly R312G not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - 6 Y 0 N - - SNAPC3 Asn28Thr N28T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - SNAPC4 Thr1421Met T1421M not reviewed Insufficiently evaluated not reviewed unknown Array 33 10654 0.00309743 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - SNAPC4 Arg665Cys R665C not reviewed Insufficiently evaluated not reviewed unknown Array 22 10752 0.00204613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 8 Y 1 N - - SNCAIP Ser306Pro S306P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - SNCG Val71Leu V71L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SND1 Leu555His L555H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SNHG3-RCC1 Ala245Pro A245P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SNRNP40 Thr239Ala T239A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - SNRPA Lys80Asn K80N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - 1 - 2 - 1 - - SNRPG Cys45Tyr C45Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 6 Y 2 N - - SNTA1 Lys276Asn K276N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.11 - - 1 - 1 - 1 - - SNTG1 Thr241Ser T241S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SNUPN Asn160Ser N160S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.246 - - 0 - 1 N - - SNX11 Thr87Ala T87A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SNX14 Gly61Val G61V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SNX15 His109Leu H109L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.459 - - 6 Y 1 N - - SNX16 Val256Ala V256A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SNX16 Val285Ala V285A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SNX17 Glu96Gln E96Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - -2 - 1 N - - SNX17 Ser194Cys S194C not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - SNX19 Arg872His R872H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - SNX19 Val336Ala V336A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SNX2 Met299Val M299V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - SNX20 Ala272Val A272V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - SNX22 His51Tyr H51Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - SNX22 Ser155Leu S155L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - SNX25 Ile187Val I187V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SNX26 Cys335Arg C335R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SNX26 Gly646Arg G646R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SNX31 Leu343Ile L343I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - SNX31 Arg267Trp R267W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - SNX31 Lys169Glu K169E not reviewed Insufficiently evaluated not reviewed unknown Array 210 10758 0.0195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SNX4 Ile170Val I170V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SNX8 Ala417Val A417V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - SNX8 Ala190Val A190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SOAT1 Val198Gly V198G not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - SOAT1 Phe237Val F237V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SOCS2 Glu7Gly E7G not reviewed Insufficiently evaluated not reviewed unknown Array rs7956250 296 10652 0.0277882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.287 - - 6 Y 2 - 1 - - SOCS3 Glu98Val E98V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.677 - - 5 Y 1 N - - SOCS4 Ser70Gly S70G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SOCS5 Met32Thr M32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 2 - 0 N - - SOCS5 Ile487Thr I487T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.378 - - 3 - 1 N - - SOD1 Asp97Glu D97E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 4 - 1 - - SOLH Pro143Arg P143R not reviewed Insufficiently evaluated not reviewed unknown Array 303 10134 0.0298993 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.565 - - 5 Y 1 N - - SOLH Glu776Ala E776A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - SON Ser267Pro S267P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 1 - 5 - - SON Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 3 - 6 - - SON Thr1596Ser T1596S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 1 - 1 - - SORBS1 Arg999His R999H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS2 Phe1088Leu F1088L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe480Leu F480L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe632Leu F632L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe649Leu F649L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe654Leu F654L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe719Leu F719L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe812Leu F812L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Phe992Leu F992L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Leu459Pro L459P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS2 Leu555Pro L555P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS2 Pro171Gln P171Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro217Gln P217Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro240Gln P240Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro242Gln P242Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro257Gln P257Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro350Gln P350Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro75Gln P75Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Pro90Gln P90Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SORBS2 Ala132Thr A132T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS2 Ala155Thr A155T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS2 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS2 Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS2 Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS3 Ala10Ser A10S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SORBS3 Gly264Ala G264A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORCS1 Asn1155Ser N1155S not reviewed Insufficiently evaluated not reviewed unknown Array rs11192966 246 10758 0.0228667 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - SORCS1 Ser738Arg S738R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SORCS2 Thr348Ile T348I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10012 0.00339592 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - SORCS3 Gln941Arg Q941R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SORCS3 Val1048Met V1048M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - SORL1 Gln471Glu Q471E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - -2 - 0 N - - SORL1 Arg904Gln R904Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SORL1 Ile983Thr I983T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - SORL1 Lys2083Arg K2083R not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - SORT1 Pro478Ser P478S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - SORT1 Ser316Pro S316P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - SOS1 Ser1199Pro S1199P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SOS2 Pro1205Leu P1205L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SOS2 Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SOX30 Glu567Lys E567K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - SOX30 Ser539Pro S539P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - SOX5 Thr363Ala T363A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SOX5 Thr376Ala T376A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SOX6 Ile427Thr I427T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SOX6 Ile430Thr I430T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - SOX6 Ile468Thr I468T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 3 - 1 N - - SOX6 Ile481Thr I481T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SP1 Thr155Ala T155A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - SP1 Thr162Ala T162A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.264 - - 1 - 2 - 1 - - SP100 Met433Leu M433L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -3 - 2 - 2 - - SP100 Arg713Gln R713Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10290 9.7181e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SP110 Val412Ile V412I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SP110 Trp112Gly W112G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SP110 Ser102Gly S102G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SP140 Ser435Gly S435G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SP2 Ala24Thr A24T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.274 - - 1 - 2 - 10 - - SP2 Val54Ala V54A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 2 - 2 - 3 - - SP4 Gln227Arg Q227R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPACA3 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array rs35420663 226 10758 0.0210076 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SPAG1 Lys467Glu K467E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPAG1 Met529Thr M529T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPAG16 Arg192His R192H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SPAG16 Asn524Ser N524S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SPAG16 Arg628Gln R628Q not reviewed Insufficiently evaluated not reviewed unknown Array 588 10758 0.054657 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 1 N - - SPAG17 Arg2218His R2218H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - SPAG17 Arg1906His R1906H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.534 - - 1 - 1 N - - SPAG17 Ser1261Thr S1261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.158 - - -2 - 0 N - - SPAG17 Ala1115Thr A1115T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SPAG17 Lys876Glu K876E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10750 0.000465116 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPAG17 Pro639Ser P639S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SPAG17 Gln562Glu Q562E not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - SPAG4L Arg3Leu R3L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPAG5 Gln675Glu Q675E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.802 - - -2 - 1 N - - SPAG5 Asn358His N358H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 0 - 2 N - - SPAG8 Trp501Ser W501S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPAG8 Thr330Ser T330S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - -2 - 1 N - - SPAG9 Lys447Arg K447R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SPAG9 Lys461Arg K461R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -3 - 0 N - - SPAM1 Gly207Val G207V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - SPAM1 Gln503Stop Q503X not reviewed Insufficiently evaluated not reviewed unknown Array 7 6172 0.00113415 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPAM1 Gly504Asp G504D not reviewed Insufficiently evaluated not reviewed unknown Array 1 6172 0.000162022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPARC Glu63Lys E63K not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPARCL1 Asp575Glu D575E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - SPARCL1 Met434Val M434V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPATA1 Val175Leu V175L not reviewed Insufficiently evaluated not reviewed unknown Array rs10493753 1103 10756 0.102547 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPATA1 Thr269Ala T269A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPATA1 Asp288Gly D288G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPATA13 Gln482Arg Q482R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPATA13 Ala550Val A550V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPATA16 Phe377Tyr F377Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - SPATA18 Thr105Met T105M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.815 - - 2 - 1 N - - SPATA18 Ser390Ile S390I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - SPATA20 Ala257Thr A257T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPATA22 Trp109Cys W109C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - SPATA3 Arg186Ser R186S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATA4 Val265Phe V265F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - SPATA5 Ser208Gly S208G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SPATA5 Ser555Thr S555T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - SPATA7 Asn57Ser N57S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y 0 - 4 N - - SPATC1 Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array 34 3234 0.0105133 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.304 - - 1 - 1 N - - SPATC1 Ser321Ala S321A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - -1 - 0 N - - SPATC1 Pro431Leu P431L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 7 Y 2 N - - SPATC1 Glu537Gln E537Q not reviewed Insufficiently evaluated not reviewed unknown Array 99 10756 0.00920417 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - -2 - 0 N - - SPATC1 Trp591Stop W591X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPATS2 Asp9Gly D9G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 4 Y 2 N - - SPATS2 Gln457Stop Q457X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPATS2 Thr523Met T523M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SPDYA Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SPEF1 Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array rs6052072 150 9932 0.0151027 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SPEF2 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array rs34307272 593 10758 0.0551218 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.265 - - 2 - 1 - 3 - - SPEF2 Arg366Lys R366K not reviewed Insufficiently evaluated not reviewed unknown Array rs16902381 584 10758 0.0542852 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.615 - - -3 - 1 - 2 - - SPEF2 Lys407Arg K407R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - -3 - 0 N - - SPEG Arg1879Cys R1879C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPEG Pro2189Arg P2189R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - SPEG Pro2189His P2189H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - SPEM1 Gly116Ser G116S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741352 448 10536 0.0425209 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 2 - 1 - - SPEM1 Asn208Asp N208D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - -1 - 0 N - - SPEN Glu202Gly E202G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - SPEN Ser263Phe S263F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.918 - - 5 Y 2 N - - SPEN Glu644Gly E644G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - SPEN Glu1008Gly E1008G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - SPEN Ser3223Arg S3223R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - SPERT Glu279Lys E279K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.741 - - 0 - 1 N - - SPERT Pro311Leu P311L not reviewed Insufficiently evaluated not reviewed unknown Array 25 8882 0.00281468 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - SPESP1 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 1 - 1 - - SPESP1 Glu144Gly E144G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - SPG11 Val2011Ala V2011A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SPG11 Ser1183Pro S1183P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SPG11 Leu268Phe L268F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SPG20 Asp217Gly D217G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 4 Y 4 N - - SPG21 Leu133Pro L133P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - SPG21 Leu160Pro L160P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - SPG7 Gly56Ala G56A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.127 Y Y 1 - 2 N - - SPG7 Asn730Asp N730D not reviewed Insufficiently evaluated not reviewed unknown Array rs35749032 173 10754 0.016087 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y -1 - 3 - 1 - - SPHKAP Asp1504Asn D1504N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -1 - 1 N - - SPHKAP Glu885Stop E885X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPHKAP Gly316Glu G316E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPHKAP Lys261Thr K261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - 3 - 2 N - - SPI1 Ala66Pro A66P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPI1 Ala67Pro A67P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPINK1 Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array rs35523678 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 4 - 2 - - SPINK1 Pro55Ala P55A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.074 Y - 2 - 1 N - - SPINK2 Ala14Val A14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPINK2 Leu3Gln L3Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPINK5 Arg441His R441H not reviewed Insufficiently evaluated not reviewed unknown Array 73 9672 0.00754756 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SPINK5 Lys969Glu K969E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SPINK5 Lys999Glu K999E not reviewed Insufficiently evaluated not reviewed unknown Array 76 9450 0.00804233 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SPINK6 Leu3Pro L3P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPINK6 Lys67Arg K67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - SPINK7 Cys11Arg C11R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 8 Y 2 N - - SPINLW1 Gly50Arg G50R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPINLW1 Gly66Arg G66R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - SPOCD1 Ile606Val I606V not reviewed Insufficiently evaluated not reviewed unknown Array rs35893741 249 10758 0.0231456 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SPOCD1 Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - SPPL2B Arg512Leu R512L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPPL2B Ser549Cys S549C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPRR3 Val93Asp V93D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.631 - - 8 Y 1 N - - SPRY1 Gln4Leu Q4L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 5 Y 2 N - - SPRYD5 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - SPRYD5 Trp43Cys W43C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPTA1 Lys2187Glu K2187E not reviewed Insufficiently evaluated not reviewed unknown Array 78 9618 0.00810979 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTA1 Arg2016Cys R2016C not reviewed Insufficiently evaluated not reviewed unknown Array 549 9852 0.0557247 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SPTA1 Ala1998Pro A1998P not reviewed Insufficiently evaluated not reviewed unknown Array 554 9876 0.0560956 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPTA1 Asn1836Ser N1836S not reviewed Insufficiently evaluated not reviewed unknown Array rs16830483 545 9920 0.0549395 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - SPTA1 Ala1784Val A1784V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPTA1 Asn394Ser N394S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10086 0.00178465 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTA1 Glu134Lys E134K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTA1 Val9Phe V9F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9646 0.000103669 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPTB Ala2167Thr A2167T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTB Arg1682Cys R1682C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPTB Arg1646Trp R1646W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPTB Ala1334Val A1334V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPTB Asn1151His N1151H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - SPTBN1 Asp191Glu D191E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPTBN1 Asp204Glu D204E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - SPTBN1 Asn314Thr N314T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTBN1 Asn327Thr N327T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - SPTBN1 Phe681Tyr F681Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPTBN1 Phe694Tyr F694Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - -4 - 1 N - - SPTBN2 Gly2256Ser G2256S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.56 Y - 2 - 2 N - - SPTBN2 Arg1480Gly R1480G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - SPTBN2 Thr1370Ala T1370A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.098 Y - 1 - 1 N - - SPTBN4 Pro2311Leu P2311L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPTLC3 Glu37Lys E37K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SQSTM1 His181Leu H181L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 6 Y 3 N - - SQSTM1 His97Leu H97L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - SRBD1 Cys777Tyr C777Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SRBD1 Lys749Glu K749E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - SRBD1 Leu724Pro L724P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - SRBD1 Gln370Arg Q370R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - SRBD1 Ile365Val I365V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SRBD1 Ala8Gly A8G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 1 - 0 N - - SRC Thr292Asn T292N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.751 - - 1 - 2 - 1 - - SRCAP Ala717Val A717V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRCAP Ala1985Glu A1985E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRCAP Gln2009His Q2009H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SRD5A2L2 Ser142Gly S142G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SREBF1 Ser823Thr S823T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SREBF1 Ser853Thr S853T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SREBF1 Ser823Cys S823C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - SREBF1 Ser853Cys S853C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SREBF1 Arg610Gln R610Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SREBF1 Arg640Gln R640Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7214136 157 10338 0.0151867 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SREBF1 Val417Met V417M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - SREBF1 Val447Met V447M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229590 286 10758 0.0265849 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - SREBF2 Gly504Arg G504R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SREBF2 Gln767Arg Q767R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 0 - 0 N - - SRFBP1 Gln56Arg Q56R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734324 268 9730 0.0275437 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - SRGAP1 Leu953Val L953V not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - SRGAP3 Pro648Thr P648T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRGAP3 Pro672Thr P672T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 4 Y 1 N - - SRGAP3 Gln324Leu Q324L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.785 - - 5 Y 2 - 2 - - SRMS Pro325Leu P325L not reviewed Insufficiently evaluated not reviewed unknown Array rs8122355 161 10506 0.0153246 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 1 - 3 - - SRMS Ile19Thr I19T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10128 0.00148104 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 3 - 2 N - - SRP54 Met406Ile M406I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SRP54 Met455Ile M455I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - -1 - 0 N - - SRP72 Arg20Gly R20G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - SRPK1 Lys506Arg K506R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9548 0.000104733 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SRPRB Phe148Ser F148S not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SRRM1 Ser162Asn S162N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRRM2 Ala266Ser A266S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SRRM2 Thr866Ala T866A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - SRRM2 Pro1500Ala P1500A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRRM2 Arg1995Gln R1995Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRRM2 Ala2520Thr A2520T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - SRRT Ala388Val A388V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRRT Ala389Val A389V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - SS18 Gly339Ala G339A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SS18 Gly370Ala G370A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737050 215 10758 0.0199851 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSBP1 Lys147Stop K147X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SSFA2 Thr659Ala T659A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - SSFA2 His891Tyr H891Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.568 - - -1 - 1 N - - SSH1 Pro1037Leu P1037L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - SSH1 Arg634Gly R634G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSH1 Arg645Gly R645G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSH1 Val173Ala V173A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - SSH1 Val184Ala V184A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - SSH1 Thr26Ala T26A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSH2 Cys1272Phe C1272F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 4 Y 1 N - - SSH2 Ser1081Pro S1081P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SSH3 Arg600His R600H not reviewed Insufficiently evaluated not reviewed unknown Array rs1573536 316 10758 0.0293735 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 3 - 3 - - SSPN Thr134Met T134M not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - SSPN Thr31Met T31M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - SSPO Phe663Ser F663S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SSPO Arg1062Trp R1062W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Gly1240Arg G1240R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO Gly1249Cys G1249C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Arg1264Cys R1264C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SSPO Arg1352Trp R1352W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Leu1714Arg L1714R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO His1756Arg H1756R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSPO Leu1779Pro L1779P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - SSPO Pro1867Gln P1867Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Pro2170Ser P2170S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSPO Pro2586Leu P2586L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO His2866Tyr H2866Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSPO Pro2988Thr P2988T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Leu3606Pro L3606P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSPO Pro4569Arg P4569R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SSPO Ser4794Pro S4794P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSPO Ser4794Leu S4794L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO Gly4929Asp G4929D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSRP1 Tyr166Stop Y166X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SSTR3 Val31Met V31M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SSTR5 Leu222Pro L222P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.359 - - 7 Y 1 N - - SSX2IP Lys298Arg K298R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - -3 - 1 N - - SSX6 Pro109Ala P109A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.78 - - 2 - 1 N - - SSX9 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ST14 Val36Met V36M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - ST18 Ser704Cys S704C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.68 - - 3 - 1 N - - ST18 Pro413Leu P413L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ST18 Asn355Ser N355S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ST3GAL3 Glu111Lys E111K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST3GAL3 Glu126Lys E126K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10726 9.3231e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST3GAL3 Glu95Lys E95K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST6GAL2 Arg172Gln R172Q not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - ST6GALNAC1 Ala192Val A192V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST6GALNAC2 Ala261Thr A261T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ST6GALNAC2 His119Leu H119L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - ST6GALNAC4 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST6GALNAC4 Val229Met V229M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - ST6GALNAC6 Gly71Ser G71S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST7 Pro576Leu P576L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ST8SIA1 Cys41Tyr C41Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ST8SIA2 Asn34Ser N34S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST8SIA3 Pro47Leu P47L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - ST8SIA3 Ile154Val I154V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ST8SIA3 Gln226Arg Q226R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.789 - - 0 - 1 N - - STAB1 Asp2520Glu D2520E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STAB2 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STAB2 Pro237Ser P237S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - STAB2 Met505Ile M505I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 2 N - - STAB2 Pro510Arg P510R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 3 - 5 - - STAB2 Lys941Arg K941R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -3 - 2 N - - STAB2 Arg1012Leu R1012L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - STAB2 Arg1132Leu R1132L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STAC Pro103Leu P103L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.423 - - 7 Y 1 N - - STAC Lys140Arg K140R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.865 - - -3 - 2 N - - STAC Ile274Val I274V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - STAC3 Lys190Asn K190N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 1 - 2 N - - STAG1 Glu681Gly E681G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STAG2 Tyr713Phe Y713F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STAG3 Asp1129Asn D1129N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STAM Val362Leu V362L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - STAP1 Asn127Lys N127K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD13 Gln716Arg Q716R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STARD13 Gln826Arg Q826R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STARD13 Gln834Arg Q834R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 0 N - - STARD6 Glu159Lys E159K not reviewed Insufficiently evaluated not reviewed unknown Array rs2917782 13 128 0.101562 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STARD6 Trp74Arg W74R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - STARD8 Glu348Asp E348D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - STARD8 Glu428Asp E428D not reviewed Insufficiently evaluated not reviewed unknown Array 290 8761 0.0331012 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STARD8 Pro387Leu P387L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STARD8 Pro467Leu P467L not reviewed Insufficiently evaluated not reviewed unknown Array 182 8756 0.0207857 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STARD8 Pro466Ser P466S not reviewed Insufficiently evaluated not reviewed unknown Array rs58255923 1 92 0.0108696 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STARD8 Pro546Ser P546S not reviewed Insufficiently evaluated not reviewed unknown Array 405 8761 0.0462276 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STAT1 Val50Ala V50A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STAT2 Gly825Asp G825D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - STAT2 Gln679Arg Q679R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - STAT2 Leu651Pro L651P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.591 - - 7 Y 1 N - - STAT2 Ile464Val I464V not reviewed Insufficiently evaluated not reviewed unknown Array rs2066811 744 10758 0.0691578 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 1 - 6 - - STAT4 Asp707Gly D707G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - STAT4 Asn260Asp N260D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.179 - - -1 - 0 N - - STAT5A Leu421Pro L421P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - STAT5B Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 1 - 1 - 1 - - STAT5B Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 3 - 2 - - STAT6 Pro676His P676H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - STAT6 Gly303Arg G303R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.294 - - 6 Y 1 N - - STAT6 Asn171Ser N171S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STEAP2 Leu185Ser L185S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STEAP3 Gly169Ser G169S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - STEAP3 Gly179Ser G179S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STEAP4 Gly181Stop G181X not reviewed Insufficiently evaluated not reviewed unknown Array 34 9770 0.00348004 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - STEAP4 Gly75Val G75V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 1 - 2 - - STIL Asp1143Asn D1143N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - STIL Asp1144Asn D1144N not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - STIL Arg281Gln R281Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 0 - 3 N - - STIM2 Trp319Arg W319R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STIM2 Asn363Asp N363D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STK10 Thr611Met T611M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - STK10 Lys210Asn K210N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - STK11IP Glu967Lys E967K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - STK17B Asp336Gly D336G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - STK17B Val318Ala V318A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STK19 Tyr176Cys Y176C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - STK24 Ser75Gly S75G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STK24 Ser87Gly S87G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.856 - - 2 - 2 N - - STK25 Phe82Ser F82S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - STK31 Asn30Ser N30S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK31 Asn53Ser N53S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK31 Ile391Thr I391T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STK31 Ile414Thr I414T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - STK31 Lys1009Thr K1009T not reviewed Insufficiently evaluated not reviewed unknown Array rs33998018 174 10756 0.016177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 3 - 4 - - STK31 Lys986Thr K986T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - STK38L Lys160Arg K160R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - STMN1 Leu160Phe L160F not reviewed Insufficiently evaluated not reviewed unknown Array 70 3234 0.021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STMN4 Arg41Lys R41K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STON1 Gln590Leu Q590L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STON1-GTF2A1L Gln590Leu Q590L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STON1-GTF2A1L Phe1135Cys F1135C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - STON2 Asn697Ser N697S not reviewed Insufficiently evaluated not reviewed unknown Array rs36017951 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 0 N - - STRA6 Gly31Ser G31S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10756 0.00502045 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - STRADB Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STRBP Met464Thr M464T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - STRN3 Phe151Ser F151S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STRN4 Val568Ile V568I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STRN4 Val575Ile V575I not reviewed Insufficiently evaluated not reviewed unknown Array rs10409124 683 10522 0.0649116 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - STRN4 Ser196Pro S196P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STS Val307Ile V307I not reviewed Insufficiently evaluated not reviewed unknown Array 200 8760 0.0228311 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - STX11 Cys280Tyr C280Y not reviewed Insufficiently evaluated not reviewed unknown Array 26 10736 0.00242176 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - STX12 Gly51Glu G51E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - STX18 Glu262Asp E262D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.951 - - -2 - 2 N - - STX19 Thr253Ala T253A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STX2 Ile95Val I95V not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.441 - - -4 - 2 - 1 - - STX2 Lys69Gln K69Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - STX3 Gln15Arg Q15R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621095 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 1 N - - STX5 Arg158Ser R158S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.791 - - 3 - 2 - 1 - - STX7 Glu72Gly E72G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.89 - - 6 Y 2 N - - STX8 Ile227Met I227M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 3 - 1 - - STX8 Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - STXBP1 Ser400Gly S400G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - 2 - 1 N - - STXBP2 Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - STXBP2 Arg192His R192H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - STXBP3 Thr41Asn T41N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STXBP4 Asn280Ser N280S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STXBP5 Ile187Thr I187T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STYK1 Leu219Pro L219P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 1 - - STYK1 Arg71Gly R71G not reviewed Insufficiently evaluated not reviewed unknown Array rs6650202 175 10758 0.016267 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - STYXL1 Ala205Pro A205P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SUCLA2 Leu37Trp L37W not reviewed Insufficiently evaluated not reviewed unknown Array rs62636645 295 10756 0.0274266 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y 5 Y 2 N - - SUCLG2 Arg381Trp R381W not reviewed Insufficiently evaluated not reviewed unknown Array rs7623258 557 9884 0.0563537 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.946 - - 7 Y 2 - 8 - - SUDS3 Ala250Val A250V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUGT1 Asn78Ile N78I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SULF1 Thr264Ala T264A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.672 - - 1 - 1 N - - SULF1 Ala494Val A494V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SULF2 Ser534Asn S534N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SULF2 Glu295Gly E295G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - SULF2 Ala76Pro A76P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 1 - 1 - - SULT1A2 Glu246Gly E246G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SULT1C2 His148Arg H148R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SULT1C2 His159Arg H159R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SULT1C2 Arg241Cys R241C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - SULT1C2 Arg252Cys R252C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SULT1C2 Arg282Thr R282T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - SULT1C2 Arg293Thr R293T not reviewed Insufficiently evaluated not reviewed unknown Array rs45515691 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - SULT1C3 Met62Thr M62T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.305 - - 2 - 1 N - - SULT1C3 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 1 - 4 - - SULT1C3 Glu203Lys E203K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743196 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 3 - 1 - - SULT2A1 Lys227Stop K227X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 10 Y 5 - 6 - - SULT2B1 Val22Ile V22I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - SULT2B1 Val37Ile V37I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - SULT6B1 Lys258Met K258M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 5 - - SULT6B1 Arg221Pro R221P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - SULT6B1 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SULT6B1 Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SULT6B1 Val37Asp V37D not reviewed Insufficiently evaluated not reviewed unknown Array rs45626240 283 10728 0.0263796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - SUMF1 Pro178His P178H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 5 Y 3 N - - SUMO3 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - SUNC1 Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUNC1 Val61Ala V61A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUOX Thr172Ala T172A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SUPT3H Thr258Ala T258A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUPT3H Thr269Ala T269A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUPT6H Tyr633Cys Y633C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 6 Y 1 N - - SUPV3L1 Ser2Phe S2F not reviewed Insufficiently evaluated not reviewed unknown Array rs33998366 441 10754 0.041008 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.658 - - 5 Y 1 N - - SUPV3L1 Ser530Pro S530P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - SURF2 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7863933 261 10758 0.024261 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.071 - - 0 - 1 - 2 - - SURF2 Phe249Leu F249L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SURF4 Gly198Arg G198R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SURF6 Thr175Arg T175R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - SUSD1 Ser229Tyr S229Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 5 Y 1 N - - SUSD2 Ser110Thr S110T not reviewed Insufficiently evaluated not reviewed unknown Array rs9680526 303 10758 0.0281651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 1 - 3 - - SUSD4 Leu440Phe L440F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - SUSD5 Ser347Leu S347L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10274 0.000875997 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 6 Y 0 N - - SUSD5 Pro213Ser P213S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.847 - - 3 - 1 N - - SUZ12 Asp675Gly D675G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 2 N - - SV2A Lys522Arg K522R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - SV2B Ser548Pro S548P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - SVEP1 Ile2922Val I2922V not reviewed Insufficiently evaluated not reviewed unknown Array rs16914996 409 10308 0.0396779 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - SVEP1 Trp2661Arg W2661R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 7 Y 2 N - - SVEP1 Arg997His R997H not reviewed Insufficiently evaluated not reviewed unknown Array 24 9884 0.00242817 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SVIL Tyr1284Cys Y1284C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SVIL Tyr1710Cys Y1710C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - SVIL Thr1200Met T1200M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.794 - - 2 - 1 N - - SVIL Thr774Met T774M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVIL Lys591Asn K591N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 1 - 2 - 1 - - SVIL Arg544His R544H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SVIL Glu514Lys E514K not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - SVIL Glu475Asp E475D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SVIL Asn400His N400H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SVIL Tyr185Stop Y185X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - SVOPL Arg334Trp R334W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SVOPL Arg486Trp R486W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SVOPL Ile322Val I322V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SVOPL Ile474Val I474V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SVOPL Val99Ile V99I not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - SYCP2 Met1269Val M1269V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - SYCP2 Leu1098Pro L1098P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYCP2 Ala770Thr A770T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYCP2 Cys562Trp C562W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SYCP2 Glu395Ala E395A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - SYCP2 Glu171Gly E171G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SYCP2 His64Arg H64R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYDE2 Glu911Asp E911D not reviewed Insufficiently evaluated not reviewed unknown Array rs72952624 320 9598 0.0333403 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYDE2 Arg417Gln R417Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61756695 659 10126 0.06508 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYK Ile262Leu I262L not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYMPK Pro1196Leu P1196L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 7 Y 0 N - - SYMPK Met426Thr M426T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SYMPK Ser380Leu S380L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SYMPK His182Gln H182Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - -1 - 1 N - - SYN1 Asn170Lys N170K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.952 Y - 1 - 3 N - - SYN2 Leu167Pro L167P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYN2 Val173Phe V173F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYN2 Glu247Gly E247G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYN3 Gly82Cys G82C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYN3 Thr23Met T23M not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNC Ala397Thr A397T not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SYNE1 Ser180Pro S180P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Ser2542Pro S2542P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Ser7947Pro S7947P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Ser8018Pro S8018P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 3 - 4 N - - SYNE1 Leu2045Pro L2045P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SYNE1 Leu7450Pro L7450P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SYNE1 Leu7521Pro L7521P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.953 Y Y 7 Y 4 N - - SYNE1 His1187Tyr H1187Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 His6592Tyr H6592Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 His6663Tyr H6663Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y -1 - 4 N - - SYNE1 Glu6186Asp E6186D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SYNE1 Glu6257Asp E6257D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y -2 - 4 N - - SYNE1 Glu781Asp E781D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y -2 - 4 N - - SYNE1 Gln6161Arg Q6161R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Gln6232Arg Q6232R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 0 - 4 N - - SYNE1 Gln756Arg Q756R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Ala457Thr A457T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Ala5862Thr A5862T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Ala5933Thr A5933T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Arg5709Gln R5709Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Arg5780Gln R5780Q not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.762 Y Y 0 - 3 N - - SYNE1 Val5385Phe V5385F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Val5456Phe V5456F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.105 Y Y 3 - 2 N - - SYNE1 Leu4991Phe L4991F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Leu5062Phe L5062F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Glu4711Gly E4711G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SYNE1 Glu4782Gly E4782G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.963 Y Y 6 Y 4 N - - SYNE1 Val4453Ala V4453A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Val4524Ala V4524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Leu4333Val L4333V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Leu4404Val L4404V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.324 Y Y 0 - 3 N - - SYNE1 Glu4132Lys E4132K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Glu4203Lys E4203K not reviewed Insufficiently evaluated not reviewed unknown Array rs2130262 297 10758 0.0276074 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Gln3512Arg Q3512R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y 0 - 4 N - - SYNE1 Gln3519Arg Q3519R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Ala2475Val A2475V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.033 Y Y 2 - 2 N - - SYNE1 Ala2482Val A2482V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Gly2384Asp G2384D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SYNE1 Gly2391Asp G2391D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SYNE1 His2371Asn H2371N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - SYNE1 His2378Asn H2378N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Asp2057Gly D2057G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 4 Y 4 N - - SYNE1 Asp2064Gly D2064G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SYNE1 His1936Arg H1936R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - SYNE1 His1943Arg H1943R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE1 Arg1659Lys R1659K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y -3 - 2 N - - SYNE1 Arg1666Lys R1666K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SYNE1 Ala1297Val A1297V not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - SYNE1 Ala1304Val A1304V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Cys716Arg C716R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 8 Y 4 N - - SYNE1 Cys723Arg C723R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SYNE1 Ala337Thr A337T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.96 Y Y 1 - 4 N - - SYNE1 Ala344Thr A344T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE2 Asn640Ser N640S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9882 0.000101194 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - SYNE2 Glu1568Asp E1568D not reviewed Insufficiently evaluated not reviewed unknown Array 1 9612 0.000104036 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SYNE2 Pro1972Leu P1972L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9596 0.00020842 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SYNE2 Thr2374Ser T2374S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYNE2 Leu2375Pro L2375P not reviewed Insufficiently evaluated not reviewed unknown Array 6 9746 0.000615637 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNE2 Gln3765Arg Q3765R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SYNE2 Ser4126Thr S4126T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.421 - - -2 - 1 N - - SYNE2 Tyr4526Cys Y4526C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNE2 Pro4702Thr P4702T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - SYNE2 Thr5006Ala T5006A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - SYNE2 His5086Tyr H5086Y not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 2 - 2 - - SYNE2 His5155Arg H5155R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 2 N - - SYNE2 Gln5942Arg Q5942R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SYNE2 Val6236Ile V6236I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SYNE2 Arg242Trp R242W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SYNE2 Arg368Trp R368W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SYNE2 Arg6697Trp R6697W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 2 - 1 - - SYNE2 Arg6720Trp R6720W not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SYNGR4 Val70Met V70M not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 0 - 2 N - - SYNJ1 Thr1511Met T1511M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNJ1 Thr1597Met T1597M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNJ1 Arg1343Gln R1343Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNJ1 Arg1429Gln R1429Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNJ1 Ile1332Val I1332V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNJ1 Ile1418Val I1418V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNJ1 Glu1291Gly E1291G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNJ1 Glu1346Gly E1346G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNJ1 Ala1147Pro A1147P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 1 N - - SYNJ1 Ala1178Pro A1178P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNJ1 Ala1233Pro A1233P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNJ1 Val511Ile V511I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNJ1 Val516Ile V516I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - SYNJ1 Val555Ile V555I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNJ2 Val1377Ile V1377I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNM Arg30Gln R30Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNM Val191Leu V191L not reviewed Insufficiently evaluated not reviewed unknown Array 11 8532 0.00128926 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNM Lys612Stop K612X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNM Ser732Leu S732L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNM Ser773Leu S773L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNM Arg1059Gly R1059G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNM Arg1154Trp R1154W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Ala1161Thr A1161T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNM Ala1473Thr A1473T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNPO2 Gly111Ser G111S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SYNPO2 Ser264Asn S264N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - SYNPO2 Asn1228Ser N1228S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNPO2L Gly2Arg G2R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNPR Ser231Ile S231I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - SYNPR Ser251Ile S251I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYP Asn130His N130H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - SYT12 Val349Leu V349L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - SYT14 Leu48Pro L48P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYT14 Val34Leu V34L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SYT14 Val79Leu V79L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYT4 Ile228Thr I228T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.261 - - 3 - 1 N - - SYT4 Lys82Arg K82R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - SYT8 Cys120Gly C120G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - SYT8 Cys120Ser C120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - SYT8 Arg206Ser R206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYT9 Arg156His R156H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SYT9 Ile439Met I439M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - -1 - 1 N - - SYTL2 Leu57Pro L57P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYTL2 Leu602Pro L602P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYTL2 Leu68Pro L68P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYTL2 Leu948Pro L948P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYTL2 Leu964Pro L964P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYTL2 Val42Gly V42G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYTL2 Val53Gly V53G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYTL2 Val587Gly V587G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYTL2 Val933Gly V933G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYTL2 Val949Gly V949G not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYTL2 Thr560Ala T560A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYTL2 Thr866Ala T866A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYTL2 Thr882Ala T882A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYTL2 Pro714Thr P714T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYTL2 Leu276Pro L276P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYTL2 Gln378Arg Q378R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYTL2 Thr282Ala T282A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYTL3 Ala367Asp A367D not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYTL4 Val500Leu V500L not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - TAAR1 Tyr27Cys Y27C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - TAAR5 Arg330Cys R330C not reviewed Insufficiently evaluated not reviewed unknown Array rs35839363 327 10758 0.030396 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 2 - 2 - - TAAR5 Leu39Pro L39P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 1 N - - TAAR6 Ser5Pro S5P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - TAAR6 Asn50Asp N50D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.975 - - -1 - 2 N - - TAAR6 Ile345Met I345M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - TAAR8 Thr2Ile T2I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 3 - - TAAR8 Gln11Arg Q11R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.885 - - 0 - 2 N - - TAAR8 Ser153Asn S153N not reviewed Insufficiently evaluated not reviewed unknown Array rs8192626 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 1 - 4 - - TAAR9 Ser335Leu S335L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC1 Ala283Ser A283S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TACC1 Ala478Ser A478S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TACC1 Ala68Ser A68S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TACC2 Asp587Gly D587G not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.862 - - 4 Y 2 N - - TACC2 Asp1617Asn D1617N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - -1 - 1 N - - TACC2 Ala2589Val A2589V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Ala667Val A667V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TACC2 Ala735Val A735V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - 2 - 1 N - - TACC3 Asn19Ser N19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.386 - - 0 - 1 N - - TACC3 Thr296Asn T296N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - 1 - 0 N - - TACC3 Glu392Gly E392G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - 6 Y 1 N - - TACR1 Tyr92Cys Y92C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TACR3 Ser455Gly S455G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 2 - 2 N - - TACSTD2 Gly238Asp G238D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.303 - - 4 Y 1 N - - TAF1 Pro188Ser P188S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TAF1A Lys194Arg K194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - -3 - 0 N - - TAF1A Lys308Arg K308R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.877 - - -3 - 2 N - - TAF1B Glu254Lys E254K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - TAF1B Thr480Ala T480A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - TAF1B Leu556Ile L556I not reviewed Insufficiently evaluated not reviewed unknown Array 79 10752 0.00734747 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - TAF1C Asp184Ala D184A not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAF1C Asp251Ala D251A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 5 Y 1 N - - TAF1D Asp215Glu D215E not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - TAF1L Leu762Pro L762P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.083 - - 7 Y 0 N - - TAF1L Ser648Pro S648P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 3 - 1 N - - TAF1L Gly91Ser G91S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAF2 Asp400Gly D400G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAF5 Thr479Ala T479A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.122 - - 1 - 0 N - - TAF5L Asp310Gly D310G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 4 Y 2 N - - TAF5L Gly222Ser G222S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAF7 Glu235Gly E235G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.911 - - 6 Y 2 N - - TAF7L His110Gln H110Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.699 - - -1 - 2 - 1 - - TAGAP Pro169Thr P169T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAGAP Pro347Thr P347T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 4 Y 2 N - - TAGAP His106Tyr H106Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAGAP His284Tyr H284Y not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - TAGLN3 Arg160Gly R160G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 6 Y 0 N - - TAL2 Gly67Ala G67A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TALDO1 Lys321Met K321M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.685 Y - 4 Y 2 N - - TALDO1 Lys321Thr K321T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.068 Y - 3 - 1 N - - TANC1 Gly884Ser G884S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TANC1 Gly892Ser G892S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9736 0.000102711 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TANC1 Ala967Thr A967T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TANC1 Ala975Thr A975T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.401 - - 1 - 1 N - - TANC1 Gly1568Val G1568V not reviewed Insufficiently evaluated not reviewed unknown Array 105 9882 0.0106254 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TANC2 Gln980Stop Q980X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TANK Glu80Gly E80G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 3 - 7 - - TANK Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229759 200 10756 0.0185943 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 3 - 3 - - TAOK1 Thr100Ala T100A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - TAOK1 Glu719Gly E719G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.862 - - 6 Y 2 N - - TAOK2 Gly1122Asp G1122D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 4 Y 1 N - - TAOK3 Arg613Leu R613L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TAP1 Gly479Cys G479C not reviewed Insufficiently evaluated not reviewed unknown Array 199 7520 0.0264628 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 3 - 5 - - TAP1 Ile393Thr I393T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - TAP1 Ser346Cys S346C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 3 - 3 - 6 - - TAP1 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array 45 7318 0.00614922 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - TAP2 Thr665Ile T665I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAP2 Arg654Cys R654C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TAP2 Ser605Cys S605C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAP2 Val387Leu V387L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAP2 Val387Met V387M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAP2 Ala374Thr A374T not reviewed Insufficiently evaluated not reviewed unknown Array 120 7524 0.015949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAP2 Leu141Val L141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAPBPL Cys39Trp C39W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - TARBP1 Lys1352Arg K1352R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - TARBP1 Asn990Lys N990K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 1 - 2 N - - TARBP1 Ser969Pro S969P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - TARBP1 Val953Met V953M not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TARS2 Glu187Asp E187D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - TARS2 Ser349Ala S349A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - -1 - 2 N - - TARSL2 Met490Thr M490T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - TAS1R1 Cys4Tyr C4Y not reviewed Insufficiently evaluated not reviewed unknown Array 140 10752 0.0130208 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAS1R1 Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744700 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TAS1R1 Ile237Leu I237L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746706 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - -2 - 2 N - - TAS1R1 Ser485Phe S485F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAS1R1 Ser739Phe S739F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - TAS1R1 Arg290Lys R290K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TAS1R1 Thr524Ala T524A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAS1R1 Thr778Ala T778A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - TAS1R2 Arg674His R674H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TAS1R2 Ala78Val A78V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - TAS1R3 Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAS1R3 Ala198Val A198V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS1R3 Ala232Val A232V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - TAS1R3 Arg247His R247H not reviewed Insufficiently evaluated not reviewed unknown Array 7 112 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TAS1R3 Ala735Thr A735T not reviewed Insufficiently evaluated not reviewed unknown Array 12 126 0.0952381 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAS2R10 Lys174Thr K174T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10736 0.000652011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R13 Asp45Asn D45N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - TAS2R14 Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array rs16925868 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.491 - - 1 - 1 N - - TAS2R16 Val235Met V235M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TAS2R16 Ala221Val A221V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.3 - - 2 - 1 N - - TAS2R16 Lys169Thr K169T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - TAS2R16 Pro161Ser P161S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 3 - 1 - 1 - - TAS2R16 Ile114Val I114V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - TAS2R20 Met172Ile M172I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - TAS2R30 Lys208Met K208M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAS2R30 Leu202Pro L202P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAS2R30 Arg120Ser R120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R30 Ile13Val I13V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TAS2R4 Pro130Leu P130L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - TAS2R5 Arg213Gln R213Q not reviewed Insufficiently evaluated not reviewed unknown Array 205 10758 0.0190556 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - TAS2R50 Ser43Stop S43X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TAS2R60 Met199Leu M199L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - TAS2R60 Lys226Glu K226E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - TAS2R8 Arg232Gly R232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 6 Y 1 N - - TAS2R9 Thr252Ile T252I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - TAS2R9 Gly218Glu G218E not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 6 Y 1 N - - TASP1 Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.401 - - 2 - 1 N - - TATDN1 Lys5Arg K5R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TAX1BP1 Arg670His R670H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAX1BP1 Arg712His R712H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TBC1D1 Ile464Val I464V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBC1D10A Arg401Trp R401W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D10A Arg262Cys R262C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.666 - - 8 Y 1 N - - TBC1D10B Phe528Leu F528L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - TBC1D10B Asp441Glu D441E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - TBC1D10B Ala209Gly A209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 1 - 0 N - - TBC1D14 Ala266Val A266V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBC1D17 Asn304Asp N304D not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBC1D17 Ala573Thr A573T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TBC1D19 Ile295Val I295V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBC1D2 Met852Ile M852I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.088 - - -1 - 0 N - - TBC1D2 Leu253Stop L253X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - TBC1D2 Leu253Trp L253W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 1 - 2 - - TBC1D22A Pro118Ser P118S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10648 0.00450789 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TBC1D22B Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - TBC1D25 Asn277Thr N277T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - TBC1D5 Glu315Gly E315G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TBC1D7 Leu40Trp L40W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - TBC1D7 Leu67Trp L67W not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 5 Y 2 - 3 - - TBC1D8 Ala411Gly A411G not reviewed Insufficiently evaluated not reviewed unknown Array 92 10048 0.00915605 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBC1D8B Val417Gly V417G not reviewed Insufficiently evaluated not reviewed unknown Array 17 8761 0.00194042 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TBC1D9 Pro1112His P1112H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - TBC1D9 Gln327His Q327H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 3 - 2 - - TBC1D9B Ala1078Thr A1078T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBC1D9B Ala1095Thr A1095T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBC1D9B Glu972Gly E972G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBC1D9B Glu989Gly E989G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBC1D9B Leu650Gln L650Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - TBCC Glu82Gln E82Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - -2 - 0 N - - TBCD Gly943Val G943V not reviewed Insufficiently evaluated not reviewed unknown Array rs8072406 271 10278 0.026367 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - 8 Y 1 - 4 - - TBCEL Ile146Leu I146L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBCEL Ser201Leu S201L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - TBCEL Ile232Thr I232T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - TBCKL Glu740Gly E740G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBKBP1 Gln176Arg Q176R not reviewed Insufficiently evaluated not reviewed unknown Array 179 10018 0.0178678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - TBL2 Met412Ile M412I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - TBL3 His145Tyr H145Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBL3 Ala541Thr A541T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBL3 Gly582Ser G582S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBRG4 Gly332Ser G332S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBRG4 Gly442Ser G442S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10552 0.00341168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBX18 Asn368His N368H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TBX19 Ile346Val I346V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - TBX2 Ser609Arg S609R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - 3 - 1 N - - TBX22 Ala343Thr A343T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TBX22 Ala463Thr A463T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 1 N - - TBXA2R Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10652 0.000187758 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.346 - - 2 - 1 N - - TBXAS1 Leu357Val L357V not reviewed Insufficiently evaluated not reviewed unknown Array rs4529 439 10758 0.0408068 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - TCEA2 Val151Ile V151I not reviewed Insufficiently evaluated not reviewed unknown Array rs6010714 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCEA2 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCEAL4 Lys132Asn K132N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - TCEAL4 Ile145Leu I145L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - -2 - 2 N - - TCEAL5 Gln172Arg Q172R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 2 N - - TCEAL5 Asp82Glu D82E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TCEB3B Val370Ala V370A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - TCEB3B Lys218Arg K218R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TCERG1L Thr281Met T281M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 2 - 2 N - - TCERG1L Val137Ile V137I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732111 440 10758 0.0408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TCF12 Glu399Gly E399G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCF12 Glu569Gly E569G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCF12 Glu593Gly E593G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCF20 Ile1502Leu I1502L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TCF20 Gly1142Ser G1142S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 2 - 1 N - - TCF20 Ser771Gly S771G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCF23 Thr176Asn T176N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 1 N - - TCF25 Ser173Cys S173C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - TCF25 Leu380Val L380V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TCF3 Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCF3 Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10698 0.00018695 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - TCF4 Ile513Thr I513T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.952 - - 3 - 2 N - - TCF4 Ser363Pro S363P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 - - 3 - 0 N - - TCF4 Ser108Pro S108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.065 - - 3 - 0 N - - TCF4 Met80Val M80V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.08 - - 0 - 0 N - - TCHH Arg1348Thr R1348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCHHL1 Gln129Glu Q129E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -2 - 1 N - - TCHP Glu218Lys E218K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - TCIRG1 Ser272Asn S272N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - TCIRG1 Ser488Asn S488N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y - 0 - 1 N - - TCL1A Val103Met V103M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCOF1 Ala297Ser A297S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TCOF1 Ala374Ser A374S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TCOF1 Ala1004Thr A1004T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCOF1 Ala1081Thr A1081T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCOF1 Ser1330Pro S1330P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TCOF1 Ser1331Pro S1331P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TCOF1 Ser1369Pro S1369P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TCOF1 Ser1370Pro S1370P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TCOF1 Ser1407Pro S1407P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TCP10L Arg194His R194H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCP10L2 Glu277Asp E277D not reviewed Insufficiently evaluated not reviewed unknown Array rs1537172 1896 2016 0.940476 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TCP11L1 Gln89Lys Q89K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - -2 - 0 N - - TCP11L1 Phe229Tyr F229Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - TCP11L2 Val373Ala V373A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.221 - - 2 - 1 N - - TCTE1 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 8 Y 0 N - - TCTN2 Val52Met V52M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 1 N - - TCTN2 Leu528Val L528V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCTN2 Leu529Val L529V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - TCTN3 Thr65Pro T65P not reviewed Insufficiently evaluated not reviewed unknown Array rs11553577 301 3234 0.0930736 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.438 - - 4 Y 0 N - - TD1 Gln5Stop Q5X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 10 - - TDO2 Arg240Ser R240S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TDO2 Val329Ala V329A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 2 - 1 N - - TDP1 Arg535His R535H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 1 - 3 N - - TDRD1 Asn83Ser N83S not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TDRD10 Ser228Gly S228G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TDRD5 Asn868Lys N868K not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - TDRD6 Pro231Leu P231L not reviewed Insufficiently evaluated not reviewed unknown Array rs41273658 501 10748 0.0466133 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - TDRD6 Ser1219Pro S1219P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TDRD6 Asn2041Ser N2041S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.923 - - 0 - 2 N - - TDRD7 His421Asn H421N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TDRD9 Leu2Val L2V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - TDRD9 Leu2Met L2M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - TEAD3 Thr254Met T254M not reviewed Insufficiently evaluated not reviewed unknown Array rs35080860 540 9904 0.0545234 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.338 - - 2 - 1 - 3 - - TEAD4 Glu53Gly E53G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TEC Trp549Arg W549R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TECPR1 Ser418Leu S418L not reviewed Insufficiently evaluated not reviewed unknown Array 170 10568 0.0160863 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - TECPR2 Gly55Asp G55D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - TECPR2 Asp259Gly D259G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - TECTA Ser373Thr S373T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.129 Y - -2 - 1 N - - TECTA Gly762Arg G762R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.472 Y - 6 Y 2 N - - TECTA Thr815Met T815M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - TECTA Thr2019Ala T2019A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.934 Y - 1 - 3 N - - TEDDM1 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TEDDM1 Pro151Thr P151T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - TEDDM1 Lys25Glu K25E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - TEK Asp682Glu D682E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - TEKT2 Gln29Arg Q29R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - TEKT2 Ile114Thr I114T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10756 0.0101339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 2 - - TEKT2 Glu145Lys E145K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 0 - 0 N - - TEKT2 Val208Ala V208A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.485 - - 2 - 1 N - - TEKT2 Arg413Leu R413L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TEKT3 Glu410Asp E410D not reviewed Insufficiently evaluated not reviewed unknown Array rs35855709 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.857 - - -2 - 2 N - - TEKT3 Glu298Gln E298Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.094 - - -2 - 0 N - - TEKT3 Val296Ala V296A not reviewed Insufficiently evaluated not reviewed unknown Array rs6502446 599 10756 0.0556898 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 1 - 3 - - TEKT3 Leu8Ser L8S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - TEKT4 Ala386Gly A386G not reviewed Insufficiently evaluated not reviewed unknown Array 8 38 0.210526 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.418 - - 1 - 0 N - - TEKT5 Met375Leu M375L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -3 - 2 N - - TENC1 Cys675Tyr C675Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TENC1 Cys799Tyr C799Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TENC1 Cys809Tyr C809Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TENC1 Pro1020Ser P1020S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - TENC1 Pro1030Ser P1030S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TENC1 Pro896Ser P896S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEP1 Ala2256Thr A2256T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TEP1 Ser2137Thr S2137T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TEP1 Ala1934Ser A1934S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TEP1 Pro1141Leu P1141L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TEP1 Cys692Tyr C692Y not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TEP1 Gln371Leu Q371L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TEP1 Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TERT Ala615Thr A615T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TERT Asp516Val D516V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 8 Y 4 N - - TET1 Leu378Pro L378P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 7 Y 0 N - - TET2 Leu862Ser L862S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - TEX10 Arg617His R617H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 1 - 0 N - - TEX13A Arg270Gln R270Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX13A Ile260Thr I260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEX14 Leu969Gln L969Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TEX14 Ser903Arg S903R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEX14 Val488Ile V488I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.532 - - -4 - 1 N - - TEX15 Arg2767Gln R2767Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX15 Cys2243Trp C2243W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TEX15 Glu1966Lys E1966K not reviewed Insufficiently evaluated not reviewed unknown Array 87 10746 0.00809603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX15 Asn1609Ser N1609S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732456 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX15 Leu1383Ile L1383I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732458 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TEX15 Val1113Ile V1113I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TEX15 Ala724Pro A724P not reviewed Insufficiently evaluated not reviewed unknown Array rs62000449 141 10756 0.013109 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TEX15 Ile277Val I277V not reviewed Insufficiently evaluated not reviewed unknown Array rs62000454 141 10742 0.013126 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TEX19 Pro117Ser P117S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEX2 Gln897His Q897H not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TEX2 Ser161Phe S161F not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 2 N - - TEX261 Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 3 - 2 N - - TEX9 Gln292His Q292H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TF Tyr534Stop Y534X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 5 - - TFAP2A Asp158Gly D158G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TFAP2A Asp160Gly D160G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TFAP2A Asp164Gly D164G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TFAP2A Leu134Pro L134P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TFAP2A Leu136Pro L136P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TFAP2A Leu140Pro L140P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TFB1M Ile139Val I139V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.218 - - -4 - 1 N - - TFB1M Ser8Gly S8G not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TFB2M Glu29Lys E29K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFDP3 His147Tyr H147Y not reviewed Insufficiently evaluated not reviewed unknown Array 165 8758 0.0188399 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - TFDP3 Glu20Gln E20Q not reviewed Insufficiently evaluated not reviewed unknown Array 200 2482 0.0805802 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TFEB Pro48Leu P48L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10672 0.000843328 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TFF1 Met17Ile M17I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - -1 - 2 N - - TFF1 Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TFG Pro354Ala P354A not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TFIP11 Ala90Gly A90G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 1 - 1 N - - TFPI Asn229Ser N229S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - TFPI2 Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.214 - - 0 - 1 N - - TFPI2 Asp23Gly D23G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10742 0.000186185 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - TFR2 Ser770Arg S770R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.06 Y Y 3 - 2 N - - TFRC Lys514Glu K514E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TG Gly815Arg G815R not reviewed Insufficiently evaluated not reviewed unknown Array rs16904774 351 10758 0.0326269 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 2 - - TG Arg988Pro R988P not reviewed Insufficiently evaluated not reviewed unknown Array rs16893332 354 10758 0.0329057 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.228 Y - 5 Y 2 N - - TG Ile994Val I994V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.074 Y - -4 - 2 - 3 - - TG Thr1621Lys T1621K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 3 - 1 N - - TG Thr1740Lys T1740K not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 3 - 1 N - - TGFB3 Phe134Ser F134S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 5 Y 4 N - - TGFBR1 Asn160His N160H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 0 - 2 N - - TGFBR3 Asn579Lys N579K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGFBR3 Ser14Asn S14N not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 1 - 4 - - TGFBRAP1 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGIF1 Ser18Leu S18L not reviewed Insufficiently evaluated not reviewed unknown Array 253 10758 0.0235174 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TGIF1 Ala69Val A69V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TGIF1 Pro143Arg P143R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TGIF1 Pro163Arg P163R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TGIF1 Pro177Arg P177R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TGIF1 Pro292Arg P292R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TGIF2LX Gln96Arg Q96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - TGM1 Ser755Trp S755W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y 7 Y 2 N - - TGM2 Glu523Lys E523K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - TGM3 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TGM4 Gln347Lys Q347K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - TGM4 Ile376Val I376V not reviewed Insufficiently evaluated not reviewed unknown Array rs17077022 215 10758 0.0199851 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TGM5 Ala168Ser A168S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TGM5 Ala250Ser A250S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TGM5 Asn159Lys N159K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - TGM5 Asn241Lys N241K not reviewed Insufficiently evaluated not reviewed unknown Array rs35578968 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 1 - 1 - - TGM5 Glu93Gln E93Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - TGM6 Met329Thr M329T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 2 - 1 N - - TGM6 Val464Met V464M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - TGM7 Thr393Ala T393A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.104 - - 1 - 0 N - - TGOLN2 Gly141Ala G141A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 1 - 1 N - - TGS1 Ala59Val A59V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TGS1 Ile160Val I160V not reviewed Insufficiently evaluated not reviewed unknown Array rs3213971 186 10758 0.0172895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - TGS1 Gly368Ala G368A not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TH Val155Ala V155A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - TH Val182Ala V182A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.303 Y Y 2 - 4 - 6 - - TH Val186Ala V186A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y 2 - 5 - 6 - - THADA Ala406Thr A406T not reviewed Insufficiently evaluated not reviewed unknown Array 112 9700 0.0115464 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - 1 - 2 N - - THADA Thr351Ala T351A not reviewed Insufficiently evaluated not reviewed unknown Array 111 9478 0.0117113 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.373 - - 1 - 1 N - - THAP5 Pro109Ser P109S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THAP5 Pro151Ser P151S not reviewed Insufficiently evaluated not reviewed unknown Array 330 10572 0.0312145 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - THAP8 Ala154Val A154V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10714 0.000186671 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.175 - - 2 - 0 N - - THAP8 Val24Leu V24L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.184 - - 0 - 0 N - - THBS2 Ile1172Val I1172V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - THBS2 Val1133Leu V1133L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THBS2 Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THBS2 Thr133Ser T133S not reviewed Insufficiently evaluated not reviewed unknown Array rs36088849 284 10758 0.026399 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - THBS2 Asn118Lys N118K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - THBS3 Asp697Glu D697E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - -2 - 2 N - - THBS4 Val646Leu V646L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 1 - 2 - - THEG Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - THEG Ala358Thr A358T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 1 - 0 N - - THEG Ser39Asn S39N not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - THEM4 Leu2Val L2V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - THEM5 Met41Thr M41T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754919 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THNSL2 Lys130Arg K130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - -3 - 0 N - - THNSL2 Thr204Asn T204N not reviewed Insufficiently evaluated not reviewed unknown Array rs34136143 325 10758 0.0302101 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - THOC5 Leu72Gln L72Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - THOC5 Thr30Ile T30I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THPO Thr344Ala T344A not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 1 - 1 - - THSD1 Asn67Ser N67S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - THSD7B His678Tyr H678Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16838413 553 9856 0.056108 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - THSD7B Asn1563Ser N1563S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THUMPD2 Gly443Asp G443D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.182 - - 4 Y 0 N - - THUMPD2 Trp82Cys W82C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - THUMPD3 Val96Ala V96A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - THUMPD3 Asp196Val D196V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - THUMPD3 Ala454Val A454V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - TIAM1 Met1032Thr M1032T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TIAM1 His847Pro H847P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.901 - - 5 Y 2 N - - TIAM1 Thr533Ala T533A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.876 - - 1 - 2 N - - TIAM2 Thr1331Ala T1331A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TIAM2 Thr256Ala T256A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIAM2 Leu1350Val L1350V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - TIAM2 Leu275Val L275V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TICAM2 Ser64Asn S64N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIE1 Gly216Arg G216R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TIFA Thr19Met T19M not reviewed Insufficiently evaluated not reviewed unknown Array rs6834237 117 10756 0.0108776 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 3 - 2 - - TIGD2 Asn522Ser N522S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIGD4 Gln489Arg Q489R not reviewed Insufficiently evaluated not reviewed unknown Array rs35581576 257 10756 0.0238936 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 3 - 2 - - TIGD4 Ala432Thr A432T not reviewed Insufficiently evaluated not reviewed unknown Array rs34432931 240 10758 0.022309 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - TIGD4 Arg237Gly R237G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.548 - - 6 Y 1 N - - TIGD4 Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - TIGD6 Leu238Pro L238P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.459 - - 7 Y 1 N - - TIGD6 Ala168Val A168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - TIGD7 Thr544Ala T544A not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIMD4 Met289Ile M289I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TIMD4 Met317Ile M317I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.167 - - -1 - 0 N - - TIMD4 Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - TIMELESS Lys945Asn K945N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - TIMELESS Gly883Glu G883E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 6 Y 1 N - - TIMELESS Met578Val M578V not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIMELESS Ile330Val I330V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TIMELESS Ala325Thr A325T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 1 - 0 N - - TIMM44 Tyr435Stop Y435X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - TIMM44 Leu304Phe L304F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - TIMM44 Glu260Gln E260Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.181 - - -2 - 0 N - - TIMM44 Ser26Thr S26T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TIMM50 Asn207Ser N207S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIMP2 Lys77Arg K77R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - -3 - 2 N - - TIMP3 Lys133Stop K133X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - TIMP4 Tyr164Cys Y164C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TIMP4 Lys79Arg K79R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.814 - - -3 - 1 N - - TINAG Arg381Pro R381P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TINAG Ser437Phe S437F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TINP1 Lys144Met K144M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TIPRL Thr96Met T96M not reviewed Insufficiently evaluated not reviewed unknown Array 85 10756 0.00790257 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TJAP1 Arg426Leu R426L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TJAP1 Arg436Leu R436L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - TJP2 Gln981His Q981H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TJP3 Arg51Trp R51W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - TKT Asp155Glu D155E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - -2 - 3 - 6 - - TKT Asp72Glu D72E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - TKTL1 Arg261Lys R261K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TKTL1 Arg311Lys R311K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TKTL1 Arg317Lys R317K not reviewed Insufficiently evaluated not reviewed unknown Array 8 8760 0.000913242 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TKTL2 Gly189Val G189V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.829 - - 8 Y 1 N - - TKTL2 Gly91Arg G91R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 1 - - TLCD1 Leu179Ile L179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TLCD1 Leu226Ile L226I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - -2 - 2 N - - TLE4 Arg546Leu R546L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 2 N - - TLE6 Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - TLE6 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLK1 Ser40Pro S40P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLK1 Ser88Pro S88P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLL2 Phe751Leu F751L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TLL2 Gly366Arg G366R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741051 249 10758 0.0231456 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.176 - - 6 Y 0 N - - TLN1 Val2105Ile V2105I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TLN2 Gln736Leu Q736L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TLR1 Met397Val M397V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TLR1 His352Asn H352N not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.722 - - 0 - 1 N - - TLR2 Asn534Ser N534S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - TLR3 Asp280Asn D280N not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - TLR3 Tyr468Cys Y468C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - TLR4 Val21Met V21M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - TLR4 Gln99Arg Q99R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 1 - 1 - - TLR6 Asn479Ser N479S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - TLR8 Ser999Asn S999N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - TM2D2 Gln14His Q14H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TM4SF18 Trp127Arg W127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TM7SF2 Gln153Lys Q153K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TM7SF4 Ile306Ser I306S not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.908 - - 5 Y 2 N - - TM9SF2 Tyr657His Y657H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - TM9SF3 Cys502Tyr C502Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TMC1 Arg272Gly R272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - TMC1 Asp308Glu D308E not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TMC2 Leu212Pro L212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 7 Y 0 N - - TMC2 Tyr285Ser Y285S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 5 Y 2 N - - TMC2 Glu394Asp E394D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - TMC3 Phe774Ser F774S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMC4 Val473Leu V473L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMC4 Val479Leu V479L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMC5 His99Asp H99D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMC5 Phe240Leu F240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMC5 Phe486Leu F486L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.797 - - 0 - 1 N - - TMC5 Arg355Cys R355C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMC5 Arg601Cys R601C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 1 - 1 - - TMC6 Ala794Pro A794P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10608 0.000471342 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMC6 Arg176Cys R176C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10684 9.3597e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.159 - - 8 Y 0 N - - TMCC2 Thr39Met T39M not reviewed Insufficiently evaluated not reviewed unknown Array 226 10750 0.0210233 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMCC2 His117Arg H117R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 2 N - - TMCC3 Ser184Gly S184G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMCO1 Ser184Pro S184P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMCO2 Lys94Arg K94R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.766 - - -3 - 1 N - - TMCO3 Ile246Thr I246T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - 3 - 2 N - - TMCO4 Asp621Asn D621N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - TMCO7 Ala524Val A524V not reviewed Insufficiently evaluated not reviewed unknown Array 9 9828 0.00091575 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TMED8 Arg182His R182H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - TMED8 Ser12Pro S12P not reviewed Insufficiently evaluated not reviewed unknown Array rs10141114 323 3872 0.0834194 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMEFF1 His104Tyr H104Y not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.766 - - -1 - 1 N - - TMEFF1 Lys176Thr K176T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - TMEFF2 Cys95Arg C95R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TMEM102 Ala202Gly A202G not reviewed Insufficiently evaluated not reviewed unknown Array 404 10758 0.0375534 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.032 - - 1 - 0 N - - TMEM106A Val46Met V46M not reviewed Insufficiently evaluated not reviewed unknown Array 97 10750 0.00902325 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMEM106A Ser149Pro S149P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 3 - 2 N - - TMEM106C Thr62Ser T62S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - TMEM117 Met446Thr M446T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 2 - 1 N - - TMEM123 Thr99Ser T99S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.134 - - -2 - 0 N - - TMEM126A Ile113Thr I113T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM126B Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM128 Thr47Ile T47I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM132A Glu718Lys E718K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMEM132A Glu719Lys E719K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - TMEM132C Ala478Thr A478T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM132C Arg806Pro R806P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM132E Pro235Arg P235R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 5 Y 1 N - - TMEM136 Cys5Arg C5R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM145 Val414Met V414M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - TMEM146 Ser621Trp S621W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.804 - - 7 Y 1 N - - TMEM14A Phe58Leu F58L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - TMEM14C Leu91Val L91V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TMEM154 Phe67Leu F67L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.199 - - 0 - 0 N - - TMEM156 Met188Ile M188I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - TMEM156 Glu178Gly E178G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM156 His164Arg H164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - TMEM159 Leu106Phe L106F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM163 Ser193Pro S193P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - TMEM163 Ser191Ile S191I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - TMEM165 Ile303Thr I303T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.218 - - 3 - 1 N - - TMEM168 Ser138Cys S138C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - TMEM175 Val300Met V300M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10756 0.00474154 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - TMEM176A Tyr106Stop Y106X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - TMEM176A Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array rs35972858 435 10758 0.040435 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - TMEM176B Cys196Tyr C196Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM176B Cys233Tyr C233Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM176B Val11Ile V11I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM18 Pro2Ser P2S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM180 Cys237Tyr C237Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.043 - - 6 Y 0 N - - TMEM187 Val14Met V14M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM194A Ser221Pro S221P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM194A Ser294Pro S294P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM195 His276Arg H276R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.362 - - 1 - 1 N - - TMEM198 Ile76Thr I76T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - TMEM199 Tyr86His Y86H not reviewed Insufficiently evaluated not reviewed unknown Array rs35276012 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - TMEM199 Asn96Ser N96S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TMEM199 Thr132Asn T132N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - TMEM2 Val1242Ile V1242I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM2 Val1305Ile V1305I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TMEM2 Arg1135Gln R1135Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM2 Arg1198Gln R1198Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM2 Gly903Arg G903R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM2 Gly966Arg G966R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - TMEM2 Gly638Arg G638R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM2 Gly701Arg G701R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - TMEM200A Phe382Cys F382C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TMEM201 Gln181Arg Q181R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - TMEM201 Ser350Ile S350I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - TMEM202 Met147Val M147V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - TMEM202 Arg182Ser R182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - TMEM206 Asp47Glu D47E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - TMEM219 Val147Ala V147A not reviewed Insufficiently evaluated not reviewed unknown Array 258 9722 0.0265377 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM22 Ile137Leu I137L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM22 Asp245Gly D245G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM222 Ser40Phe S40F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 5 Y 0 N - - TMEM25 Trp25Cys W25C not reviewed Insufficiently evaluated not reviewed unknown Array 96 10752 0.00892857 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 3 - 1 - - TMEM25 Arg156Leu R156L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TMEM25 Arg52Leu R52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM38B Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - TMEM39A Trp317Arg W317R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TMEM39A Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM40 Arg134Lys R134K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - -3 - 1 N - - TMEM40 Ser58Phe S58F not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.121 - - 5 Y 0 N - - TMEM43 Tyr233Cys Y233C not reviewed Insufficiently evaluated not reviewed unknown Array rs35924492 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 6 Y 5 - 1 - - TMEM43 Ala318Val A318V not reviewed Insufficiently evaluated not reviewed unknown Array rs11924644 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.06 Y Y 2 - 2 N - - TMEM45A Phe199Leu F199L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TMEM48 Met456Val M456V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM5 Val254Ala V254A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 0 N - - TMEM50A Glu153Gly E153G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - TMEM52 Met141Lys M141K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 4 Y 3 - 1 - - TMEM53 Asp7Asn D7N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - TMEM55A Gln146Arg Q146R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - TMEM57 Ile275Phe I275F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.361 - - 2 - 1 N - - TMEM59 Ile276Thr I276T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TMEM59L Ala142Pro A142P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMEM63A Ile17Val I17V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM63B Ile494Met I494M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - -1 - 3 - 1 - - TMEM63B Tyr497Cys Y497C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.886 - - 6 Y 2 N - - TMEM67 Ser139Pro S139P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TMEM67 Ser220Pro S220P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 3 - 2 N - - TMEM67 Ser239Cys S239C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TMEM68 His191Arg H191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 1 - 2 N - - TMEM70 Tyr145Cys Y145C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TMEM71 Arg228Gln R228Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.584 - - 0 - 1 N - - TMEM71 Arg272Gln R272Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM71 Val97Ile V97I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - TMEM74 Ser305Gly S305G not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.449 - - 2 - 1 N - - TMEM74 Asp14Gly D14G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM79 Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array 92 10752 0.00855655 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMEM8 Arg764Trp R764W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM81 Ser226Leu S226L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM82 Val104Ala V104A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740067 195 10748 0.0181429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM87A Lys167Arg K167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - -3 - 0 N - - TMEM87A Lys117Gln K117Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10752 0.00260417 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM87B Ile285Val I285V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TMEM88B Val77Ile V77I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM92 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs9894445 498 10758 0.0462911 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM99 Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9518 0.000315192 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - TMIGD2 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - TMOD1 Ala310Val A310V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMOD3 Phe5Ser F5S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - TMOD4 Asn336Ser N336S not reviewed Insufficiently evaluated not reviewed unknown Array rs11800088 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.716 - - 0 - 1 N - - TMPO Leu238Arg L238R not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 2 - 3 - - TMPO Ser293Ala S293A not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.579 - - -1 - 2 - 3 - - TMPO Thr317Ser T317S not reviewed Insufficiently evaluated not reviewed unknown Array rs35969221 418 10758 0.0388548 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - TMPO Lys478Asn K478N not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 2 - 3 - - TMPPE Arg11His R11H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPPE Arg148His R148H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - TMPRSS11F Pro172Ser P172S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10752 0.00186012 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TMPRSS6 Val171Ala V171A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - TMPRSS6 Arg112Cys R112C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - TMPRSS9 Ala456Thr A456T not reviewed Insufficiently evaluated not reviewed unknown Array rs10153474 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - TMPRSS9 Gln635Arg Q635R not reviewed Insufficiently evaluated not reviewed unknown Array rs45546534 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TMSB10 Glu25Asp E25D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - -2 - 3 - 1 - - TMTC3 Val859Ile V859I not reviewed Insufficiently evaluated not reviewed unknown Array rs34623199 242 10754 0.0225033 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMTC4 Val612Met V612M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMTC4 Val631Met V631M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMTC4 Gly462Ser G462S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMTC4 Gly481Ser G481S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMUB2 Arg208Pro R208P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - TMUB2 Arg228Pro R228P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.637 - - 5 Y 2 - 3 - - TMX1 Lys279Arg K279R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9464 0.000105663 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - TMX2 Gly48Arg G48R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - TMX4 Arg225His R225H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TNC Arg2033His R2033H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNC Thr1937Ser T1937S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNC Gly1759Arg G1759R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNC Ala1555Ser A1555S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNC Arg1016Cys R1016C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNFAIP1 Asp187Gly D187G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - TNFAIP2 Tyr600Cys Y600C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - TNFAIP3 Ala125Val A125V not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 2 - 2 - 8 - - TNFRSF10A Asp430Asn D430N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - TNFRSF10B Thr197Met T197M not reviewed Insufficiently evaluated not reviewed unknown Array rs61756238 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 2 N - - TNFRSF10B Gly19Asp G19D not reviewed Insufficiently evaluated not reviewed unknown Array rs41308114 103 10732 0.00959747 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 4 Y 2 N - - TNFRSF10D Leu353Met L353M not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TNFRSF10D Leu303Pro L303P not reviewed Insufficiently evaluated not reviewed unknown Array rs61756241 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNFRSF10D Pro265Ser P265S not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNFRSF10D Arg261Gln R261Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFRSF10D Pro209Thr P209T not reviewed Insufficiently evaluated not reviewed unknown Array rs35213435 156 10758 0.0145008 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNFRSF10D Arg175Trp R175W not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNFRSF11A Leu77Ser L77S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.928 Y - 6 Y 3 N - - TNFRSF11A Glu262Gly E262G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 6 Y 3 N - - TNFRSF11A Arg466His R466H not reviewed Insufficiently evaluated not reviewed unknown Array 115 10744 0.0107036 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TNFRSF19 Thr297Met T297M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 1 - 2 - - TNFRSF1B Val353Met V353M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFRSF21 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFRSF9 Gly252Glu G252E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNFSF10 Val33Ile V33I not reviewed Insufficiently evaluated not reviewed unknown Array rs6763816 199 10758 0.0184979 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - TNFSF14 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TNFSF14 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TNFSF9 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array 118 10710 0.0110177 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.32 - - 1 - 1 N - - TNIP1 Pro443Ser P443S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - TNIP2 Ala395Thr A395T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIP2 Asp365Asn D365N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - TNIP2 Arg137Gln R137Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - TNK2 Pro887His P887H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - TNK2 Pro965His P965H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10646 0.00253616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNK2 Arg877His R877H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.74 - - 1 - 1 N - - TNK2 Arg955His R955H not reviewed Insufficiently evaluated not reviewed unknown Array 131 10732 0.0122065 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNK2 Pro506His P506H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - TNK2 Pro569His P569H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10592 9.441e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNK2 Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNK2 Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 3 - 6 - - TNKS Arg200Ser R200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNKS Ile619Thr I619T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNKS1BP1 Val1626Glu V1626E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNKS1BP1 Pro354Gln P354Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNKS2 Asp1165Asn D1165N not reviewed Insufficiently evaluated not reviewed unknown Array 104 10756 0.00966902 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TNN Gly144Asp G144D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - TNN Pro754Leu P754L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TNN Gln1018Stop Q1018X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TNN Arg1048His R1048H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 2 N - - TNN Thr1104Met T1104M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TNNI2 Glu3Asp E3D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TNNI2 Ser20Arg S20R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - TNNI3K Leu171Val L171V pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 2 2 2 Y 3 Y 1 Y 0 Y 4 Y 3 Y - - - - 0.98 - - 0 - 2 N - - This variant is associated with restrictive cardiomyopathy in one individual of Caucasian ethnicity. TNNI3K Leu272Val L272V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TNNI3K His310Arg H310R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNNI3K His411Arg H411R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TNNT1 Val73Ile V73I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TNNT1 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.611 Y Y -4 - 3 N - - TNNT2 Val186Leu V186L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 4 - 1 - - TNPO1 Ser102Thr S102T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNPO1 Ser110Thr S110T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNPO1 Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNPO1 Ile182Val I182V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNPO2 Ile709Thr I709T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNR Arg1007Gln R1007Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNR Pro647Ala P647A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNRC18 Arg1134His R1134H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - TNRC6A Glu57Asp E57D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 1 N - - TNRC6A Phe761Cys F761C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - TNRC6A Ala1689Val A1689V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - TNRC6C Ser44Gly S44G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10022 0.00019956 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNS1 Thr460Ala T460A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNS1 Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNS1 Thr6Ala T6A not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - TNXB Gln279Lys Q279K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - TNXB Gln3848Lys Q3848K not reviewed Insufficiently evaluated not reviewed unknown Array rs4713498 6 120 0.05 4 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - TNXB Arg2844Gly R2844G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - TNXB Gly2518Val G2518V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - TNXB Phe1186Cys F1186C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - TOLLIP Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - TOM1L1 Leu386Pro L386P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TOMM20L Arg79Gln R79Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TOMM40 Asp209Glu D209E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -2 - 2 N - - TOP1MT Asp202Gly D202G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 4 Y 0 N - - TOP1MT Tyr144His Y144H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - -1 - 0 N - - TOP2A His1499Asp H1499D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.152 - - 3 - 0 N - - TOP2B Thr1314Ala T1314A not reviewed Insufficiently evaluated not reviewed unknown Array rs17016875 360 9532 0.0377675 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TOP3A Arg906Trp R906W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TOP3A Asp459Asn D459N not reviewed Insufficiently evaluated not reviewed unknown Array rs28671051 678 10758 0.0630229 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 1 N - - TOPBP1 Arg700Ser R700S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOPORS Ser675Asn S675N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TOR1AIP1 Asp304Asn D304N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.082 - - -1 - 0 N - - TOR1AIP2 Asp116Glu D116E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TOR1B Val304Ala V304A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 0 N - - TOX2 Val172Ala V172A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TOX2 Val214Ala V214A not reviewed Insufficiently evaluated not reviewed unknown Array rs6103584 247 10758 0.0229597 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TOX2 Val223Ala V223A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TOX2 Pro193Leu P193L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TOX2 Pro235Leu P235L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TOX2 Pro244Leu P244L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TP53 Ser246Pro S246P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TP53 Ser378Pro S378P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.971 Y Y 3 - 5 - 1 - - TP53BP1 Pro1482Ser P1482S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TP53BP1 Pro1487Ser P1487S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TP53BP1 Gln699Arg Q699R not reviewed Insufficiently evaluated not reviewed unknown Array rs34823068 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 1 - 5 - - TP53BP1 Gln704Arg Q704R not reviewed Insufficiently evaluated not reviewed unknown Array 157 10754 0.0145992 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 5 - - TP53BP2 Gln168Stop Q168X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TP53BP2 Gln39Stop Q39X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TP53I3 Glu223Lys E223K not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - TP53INP1 Glu143Asp E143D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - TPCN2 Val683Ala V683A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - TPM1 Met284Ile M284I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TPM2 Asn89Ile N89I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 N - - TPO Asp493Glu D493E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TPO Asp609Glu D609E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TPO Asp666Glu D666E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.174 Y - -2 - 1 N - - TPO Pro618Ser P618S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 1 - - TPO Pro734Ser P734S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TPO Pro791Ser P791S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.861 Y - 3 - 3 N - - TPP1 Val466Met V466M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - TPP1 Gln373Glu Q373E not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.049 Y Y -2 - 2 N - - TPR Val779Ile V779I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744267 1335 9442 0.14139 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TPRG1L Leu237Pro L237P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - TPSD1 Arg58His R58H not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TPSG1 Ala312Val A312V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TPSG1 Ser202Asn S202N not reviewed Insufficiently evaluated not reviewed unknown Array 69 10402 0.00663334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 0 - 3 - 2 - - TPSG1 Arg168Trp R168W not reviewed Insufficiently evaluated not reviewed unknown Array 17 10748 0.00158169 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - TPSG1 Trp51Stop W51X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10134 9.8677e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TPSG1 Arg28Trp R28W not reviewed Insufficiently evaluated not reviewed unknown Array 43 9352 0.00459795 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 7 Y 0 N - - TPSG1 Gly25Arg G25R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - TPSG1 Arg20Ser R20S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - TPST1 Glu132Asp E132D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - TPST1 Arg209Ser R209S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - TPTE Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPTE Arg127His R127H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPTE Arg89His R89H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRABD His10Gln H10Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TRAF3IP1 Asp593Glu D593E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRAF3IP1 Asp659Glu D659E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.344 - - -2 - 1 N - - TRAF3IP2 Ala473Thr A473T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAF3IP2 Ala482Thr A482T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAF3IP3 Gln52His Q52H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 3 - 1 - - TRAF3IP3 Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - TRAF4 Arg116His R116H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - 1 - 1 N - - TRAF5 Thr232Met T232M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - TRAF5 Ala385Glu A385E not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - TRAF7 Ile326Met I326M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TRAFD1 Arg183Gln R183Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 0 - 2 N - - TRAFD1 Leu342Ser L342S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 6 Y 1 N - - TRAK1 Ala114Thr A114T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - TRAK1 Ala56Thr A56T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAK1 Gly500Ser G500S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRAK1 Gly558Ser G558S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 0 N - - TRAK1 Pro782Arg P782R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TRAK2 Thr810Ala T810A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - TRAP1 Arg703Gln R703Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.072 - - 0 - 0 N - - TRAP1 Arg692Pro R692P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 3 - 4 - - TRAP1 Thr579Met T579M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TRAP1 Asn496Lys N496K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - TRAP1 Arg495Cys R495C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - TRAP1 Pro350Leu P350L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.473 - - 7 Y 1 N - - TRAP1 Tyr344Stop Y344X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRAP1 Ser259Cys S259C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.087 - - 3 - 0 N - - TRAP1 Ile253Phe I253F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TRAPPC10 Phe972Leu F972L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 0 - 3 N - - TRAPPC10 Asp1098Gly D1098G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.972 - Y 4 Y 3 N - - TRAPPC6B Met14Val M14V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.041 - - 0 - 0 N - - TRAPPC9 Ser894Asn S894N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - TRAPPC9 Ser992Asn S992N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRDMT1 Thr215Ile T215I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRDMT1 Thr237Ile T237I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRDMT1 Thr261Ile T261I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TRDN Leu470Met L470M not reviewed Insufficiently evaluated not reviewed unknown Array rs6569336 401 6026 0.066545 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TREM1 Lys135Thr K135T not reviewed Insufficiently evaluated not reviewed unknown Array rs34727391 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - 3 - 3 - 3 - - TREML2 Met281Val M281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - TRERF1 Ala508Asp A508D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 5 Y 1 N - - TRERF1 Glu338Gly E338G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 6 Y 0 N - - TREX1 Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 2 - 2 N - - TREX1 Gly282Ser G282S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TREX1 Ala247Pro A247P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TREX1 Ala302Pro A302P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.707 Y Y 2 - 4 - 1 - - TRIB3 Pro70Thr P70T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 4 Y 1 N - - TRIB3 Gln262Arg Q262R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 2 N - - TRIM15 Gln178Arg Q178R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRIM15 Asp259Gly D259G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - TRIM17 Pro43Leu P43L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM17 Pro70Leu P70L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 7 Y 0 N - - TRIM2 Gly20Ser G20S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM2 Thr388Ala T388A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - 1 - 1 N - - TRIM2 Thr415Ala T415A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM21 Arg121His R121H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10180 0.000196463 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.447 - - 1 - 1 N - - TRIM22 Leu264Met L264M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - TRIM24 Arg219Stop R219X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRIM24 Lys677Asn K677N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM24 Lys711Asn K711N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 1 N - - TRIM25 Gln356Arg Q356R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.454 - - 0 - 1 N - - TRIM26 Glu427Gly E427G not reviewed Insufficiently evaluated not reviewed unknown Array 9 7520 0.00119681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM27 Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM28 Asp286Gly D286G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 4 Y 2 N - - TRIM28 Glu760Gly E760G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.621 - - 6 Y 1 N - - TRIM29 Met468Thr M468T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.879 - - 2 - 2 N - - TRIM31 Lys91Arg K91R not reviewed Insufficiently evaluated not reviewed unknown Array 1 7524 0.000132908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - -3 - 1 N - - TRIM37 Lys200Glu K200E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.889 Y - 0 - 3 N - - TRIM4 Ser448Cys S448C not reviewed Insufficiently evaluated not reviewed unknown Array rs33998596 740 10758 0.068786 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRIM4 Ser474Cys S474C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.467 - - 3 - 1 N - - TRIM4 Pro341Ser P341S not reviewed Insufficiently evaluated not reviewed unknown Array rs35432946 754 10758 0.0700874 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRIM4 Pro367Ser P367S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TRIM40 Gly12Ser G12S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM40 Val42Ala V42A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM40 Pro59His P59H not reviewed Insufficiently evaluated not reviewed unknown Array 65 7520 0.00864362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRIM40 Pro157Leu P157L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM42 Arg242Pro R242P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 3 - 1 - - TRIM45 Gln440His Q440H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM45 Gln458His Q458H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM6 Cys290Phe C290F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM6 Cys318Phe C318F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM6-TRIM34 Cys318Phe C318F not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM60 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - 1 - 1 N - - TRIM61 Arg197Cys R197C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIM65 Gly364Arg G364R not reviewed Insufficiently evaluated not reviewed unknown Array rs34593741 258 10536 0.0244875 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM69 Asp12Asn D12N not reviewed Insufficiently evaluated not reviewed unknown Array rs2444007 314 10758 0.0291876 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 3 - 1 - - TRIM75 Ala412Ser A412S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIML1 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - TRIML1 Thr100Ala T100A not reviewed Insufficiently evaluated not reviewed unknown Array 447 10758 0.0415505 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIML1 Ser234Tyr S234Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 5 Y 1 N - - TRIML1 Glu242Lys E242K not reviewed Insufficiently evaluated not reviewed unknown Array 142 10756 0.0132019 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 3 - 1 - - TRIML2 Lys157Glu K157E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - TRIML2 Lys14Arg K14R not reviewed Insufficiently evaluated not reviewed unknown Array 125 10756 0.0116214 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - -3 - 1 N - - TRIOBP Pro1393Leu P1393L not reviewed Insufficiently evaluated not reviewed unknown Array 53 9602 0.00551968 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.243 Y - 7 Y 2 N - - TRIOBP Val2300Ala V2300A not reviewed Insufficiently evaluated not reviewed unknown Array 60 10018 0.00598922 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.891 Y - 2 - 3 N - - TRIOBP Val587Ala V587A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TRIP10 Ser235Trp S235W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 7 Y 2 N - - TRIP11 Asn1967Ser N1967S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIP11 Lys1650Glu K1650E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIP11 Arg731Gly R731G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIP11 Asp416Gly D416G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIP13 Leu369Met L369M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - TRIP4 Thr50Ala T50A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - TRIP4 Glu138Gly E138G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - TRIP4 Trp435Cys W435C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TRIP4 Phe551Leu F551L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TRMT11 His235Asn H235N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TRMT11 Thr406Ala T406A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 1 - 2 N - - TRMT11 Pro435Leu P435L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - TRMT12 Arg97Lys R97K not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRMT12 Leu126Val L126V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.109 - - 0 - 0 N - - TRMT12 Leu126Met L126M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -3 - 0 N - - TRMT2A Phe276Cys F276C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 2 N - - TRMT2B Glu463Val E463V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TRMT5 Ser409Arg S409R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - TRMT5 His179Asn H179N not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRMT6 Lys471Thr K471T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - 3 - 2 N - - TRMT61B Lys191Glu K191E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRMU Glu148Lys E148K not reviewed Insufficiently evaluated not reviewed unknown Array rs34012206 181 10758 0.0168247 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TRMU Ala369Val A369V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 2 - 3 N - - TRNT1 Ile267Thr I267T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TROAP Arg48Gly R48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - TROAP Arg265Cys R265C not reviewed Insufficiently evaluated not reviewed unknown Array 208 10758 0.0193344 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TROAP Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPA1 Ile679Val I679V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPA1 Met407Thr M407T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPC1 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 2 - - TRPC1 Asp148Tyr D148Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPC1 Arg687Ser R687S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPC4 Val179Met V179M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - TRPC6 Met859Lys M859K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 3 N - - TRPM1 Arg1479His R1479H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10144 0.00295741 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 1 N - - TRPM1 Thr1428Met T1428M not reviewed Insufficiently evaluated not reviewed unknown Array 27 9620 0.00280665 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.655 - - 2 - 1 N - - TRPM1 Thr1314Met T1314M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10172 0.00550531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPM2 Val166Ile V166I not reviewed Insufficiently evaluated not reviewed unknown Array rs45544142 391 10758 0.036345 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - TRPM2 Lys382Arg K382R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRPM2 Thr1277Met T1277M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPM2 His1314Arg H1314R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10746 0.000465289 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM3 Arg1442Cys R1442C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Arg1452Cys R1452C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Arg1454Cys R1454C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Arg1464Cys R1464C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Arg1467Cys R1467C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Arg1477Cys R1477C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Arg1605Cys R1605C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Ile260Thr I260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPM3 Ile285Thr I285T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPM3 Ile413Thr I413T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPM4 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10714 9.3335e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM4 Ala101Thr A101T not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM5 Gly1136Ser G1136S not reviewed Insufficiently evaluated not reviewed unknown Array 164 10750 0.0152558 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - TRPM5 Gly171Asp G171D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741881 474 10756 0.0440684 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 1 N - - TRPM5 Arg149Gly R149G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - TRPM5 Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM6 Pro1439Arg P1439R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 5 Y 1 N - - TRPM6 Gly296Ser G296S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.854 Y - 2 - 4 - 1 - - TRPM6 Asn48Thr N48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 1 - 3 N - - TRPM8 Gly80Ala G80A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - TRPM8 Arg485Trp R485W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 7 Y 1 N - - TRPM8 Gln861Leu Q861L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - TRPV3 Thr774Ile T774I not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 3 - 1 - 3 - - TRPV3 Val132Met V132M not reviewed Insufficiently evaluated not reviewed unknown Array rs8066242 718 10758 0.066741 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRPV4 Val324Ala V324A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.963 Y - 2 - 3 N - - TRPV6 Ala95Thr A95T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.843 - - 1 - 1 N - - TRPV6 Glu68Val E68V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - TRRAP Val524Met V524M not reviewed Insufficiently evaluated not reviewed unknown Array 48 10722 0.00447678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRRAP Pro1535Leu P1535L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRRAP Ile1758Val I1758V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRRAP Ala3788Thr A3788T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRUB2 Arg327Met R327M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - TSC1 Pro1058Ser P1058S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.105 Y Y 3 - 2 N - - TSC2 Arg1261Lys R1261K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TSC2 Arg1305Lys R1305K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TSC2 Arg1328Lys R1328K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.222 Y Y -3 - 3 N - - TSC2 Ser1631Arg S1631R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TSC2 Ser1675Arg S1675R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TSC2 Ser1698Arg S1698R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.508 Y Y 3 - 3 N - - TSC2 Asp1667Glu D1667E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TSC2 Asp1711Glu D1711E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TSC2 Asp1734Glu D1734E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y -2 - 4 N - - TSC22D2 Leu88Val L88V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - TSEN54 Val190Leu V190L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TSEPA His589Arg H589R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSEPA Gly69Cys G69C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSGA10IP Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSGA10IP Gly539Ser G539S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSGA14 Cys240Gly C240G not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TSHB Ile78Thr I78T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSHR Leu429Pro L429P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 3 - 1 - - TSHR Gly697Asp G697D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TSHZ1 Gly28Cys G28C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSHZ1 Thr123Ile T123I not reviewed Insufficiently evaluated not reviewed unknown Array 80 10396 0.00769527 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSHZ1 Leu621Arg L621R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - TSHZ1 Leu621Gln L621Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - TSHZ1 Met689Thr M689T not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSHZ2 Ser947Pro S947P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.565 - - 3 - 1 N - - TSKU Pro4Ala P4A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 2 - 1 N - - TSKU Gly180Ser G180S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSKU Arg251His R251H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - 1 - 1 N - - TSNARE1 Arg512Stop R512X not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 2 - - TSNARE1 Arg331His R331H not reviewed Insufficiently evaluated not reviewed unknown Array rs62000450 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TSNARE1 Pro91Leu P91L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 7 Y 2 N - - TSNAXIP1 Tyr282Cys Y282C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - TSNAXIP1 Met484Leu M484L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - TSP50 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSPAN10 Val76Ile V76I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TSPAN17 Cys156Trp C156W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TSPAN2 Asp134Glu D134E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TSPAN2 Arg118Leu R118L not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.549 - - 6 Y 2 - 4 - - TSPAN3 Val145Asp V145D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TSPAN3 Val170Asp V170D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TSPAN32 Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array rs2234296 82 10746 0.00763075 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - TSPAN32 Gly137Val G137V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.722 - - 8 Y 1 N - - TSPAN32 Gln283Arg Q283R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 2 N - - TSPAN33 Ala111Thr A111T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.418 - - 1 - 1 N - - TSPAN4 Thr60Ala T60A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TSPAN8 Ile26Val I26V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - TSPO Ser77Arg S77R not reviewed Insufficiently evaluated not reviewed unknown Array rs8192468 233 10670 0.0218369 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSPYL1 Thr379Ser T379S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSPYL1 Leu312Phe L312F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSPYL6 Pro4Leu P4L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10114 0.00425153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSR1 Gly414Val G414V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TSSK2 Lys27Arg K27R not reviewed Insufficiently evaluated not reviewed unknown Array rs3747052 399 10758 0.0370887 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TSSK2 Glu244Lys E244K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TST Glu102Stop E102X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTC12 Lys110Arg K110R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TTC13 Asn117Asp N117D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC14 Glu268Gly E268G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - TTC16 Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - TTC16 Gly406Ser G406S not reviewed Insufficiently evaluated not reviewed unknown Array 175 10690 0.0163704 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - 2 - 1 N - - TTC16 Asn436Ser N436S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 0 - 0 N - - TTC17 Arg892His R892H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TTC17 Val1119Asp V1119D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 8 Y 0 N - - TTC18 Thr682Ile T682I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC18 Ala524Thr A524T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - TTC21A Val30Leu V30L not reviewed Insufficiently evaluated not reviewed unknown Array 40 9936 0.00402576 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21B Leu911Val L911V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21B Asn290Ser N290S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21B Met280Val M280V not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21B Gln222Leu Q222L not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTC22 Val401Ala V401A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 2 - 1 N - - TTC22 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - TTC23L Thr150Met T150M not reviewed Insufficiently evaluated not reviewed unknown Array rs34566695 155 10014 0.0154783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.75 - - 2 - 1 N - - TTC23L Asn153Asp N153D not reviewed Insufficiently evaluated not reviewed unknown Array rs35769440 155 10010 0.0154845 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC27 Asn190Asp N190D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - TTC27 Asp223Gly D223G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTC27 Gly483Arg G483R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - TTC27 Gln610Glu Q610E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.855 - - -2 - 2 N - - TTC28 Ala2348Thr A2348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - TTC29 Gly448Arg G448R not reviewed Insufficiently evaluated not reviewed unknown Array 194 9432 0.0205683 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTC3 Ile69Met I69M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC3 Asn619Ser N619S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - TTC3 Phe939Leu F939L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.478 - - 0 - 1 N - - TTC3 Gly1065Asp G1065D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 4 Y 2 N - - TTC3 Met1130Val M1130V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - TTC3 Lys1253Glu K1253E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TTC3 Ser1258Pro S1258P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - TTC3 Val1461Met V1461M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TTC3 Pro1681Ser P1681S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - TTC30B Arg82Gly R82G not reviewed Insufficiently evaluated not reviewed unknown Array 85 10738 0.00791581 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - TTC31 Gly402Asp G402D not reviewed Insufficiently evaluated not reviewed unknown Array 92 9826 0.00936291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - TTC31 Pro432Ser P432S not reviewed Insufficiently evaluated not reviewed unknown Array 99 10592 0.00934668 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - TTC31 Leu438His L438H not reviewed Insufficiently evaluated not reviewed unknown Array 99 10512 0.00941781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTC33 Met109Thr M109T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - TTC37 His1408Arg H1408R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - TTC37 Val242Ala V242A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - TTC38 Pro346Ala P346A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10406 0.000384393 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC39A Ile554Met I554M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC39A Ile557Met I557M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC39A Phe316Leu F316L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC39A Phe319Leu F319L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - TTC39C Arg504Gly R504G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTC39C Arg565Gly R565G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TTC5 Val336Ile V336I not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - -4 - 1 N - - TTC7A Asp63Glu D63E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - -2 - 1 N - - TTC7A Gln526Arg Q526R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - TTC7A Thr653Ala T653A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TTC8 Ser444Gly S444G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTC8 Ser474Gly S474G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTC8 Ser484Gly S484G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTC9C Lys163Arg K163R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - TTF1 Gln900Arg Q900R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TTF2 Lys213Arg K213R not reviewed Insufficiently evaluated not reviewed unknown Array rs7535524 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.057 - - -3 - 1 - 4 - - TTF2 Pro263Ser P263S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.561 - - 3 - 1 N - - TTF2 Ser897Thr S897T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - -2 - 1 N - - TTF2 Arg964Cys R964C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TTF2 Ala1037Thr A1037T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - TTK Ser333Gly S333G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 1 - 1 - - TTK Ser464Gly S464G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - TTLL1 Asn263Asp N263D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTLL1 Asn301Asp N301D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - TTLL10 Arg327Gly R327G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.718 - - 6 Y 1 N - - TTLL10 Arg400Gly R400G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TTLL11 Arg536His R536H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - TTLL11 Pro160Ser P160S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742325 400 9374 0.0426712 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.759 - - 3 - 1 N - - TTLL12 Val464Leu V464L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 1 - 2 - - TTLL12 Ser402Cys S402C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - TTLL12 Val297Leu V297L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TTLL12 His130Gln H130Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - -1 - 0 N - - TTLL3 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.454 - - -3 - 1 N - - TTLL3 Asp216Asn D216N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - -1 - 2 N - - TTLL3 Arg355His R355H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.283 - - 1 - 1 N - - TTLL3 Val758Ala V758A not reviewed Insufficiently evaluated not reviewed unknown Array 99 9974 0.00992581 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTLL5 Ala437Val A437V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTLL5 Ala877Thr A877T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTLL6 Thr316Ala T316A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTLL6 Thr623Ala T623A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTLL6 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - TTLL6 Trp20Arg W20R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TTLL7 Thr719Ala T719A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 1 - 0 N - - TTLL8 Met779Lys M779K not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTLL8 Arg155His R155H not reviewed Insufficiently evaluated not reviewed unknown Array rs17013076 4 104 0.0384615 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 2 - - TTLL8 Val87Met V87M not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TTN Val26622Met V26622M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val26747Met V26747M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val26814Met V26814M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val33119Met V33119M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg23415Gln R23415Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg23540Gln R23540Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg23607Gln R23607Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg29912Gln R29912Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Pro20743Leu P20743L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro20868Leu P20868L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro20935Leu P20935L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro27240Leu P27240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Tyr18238Cys Y18238C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Tyr18363Cys Y18363C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Tyr18430Cys Y18430C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Tyr24735Cys Y24735C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Val17243Asp V17243D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Val17368Asp V17368D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Val17435Asp V17435D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Val23740Asp V23740D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ser16109Arg S16109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser16234Arg S16234R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser16301Arg S16301R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser22606Arg S22606R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser13674Pro S13674P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser13799Pro S13799P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser13866Pro S13866P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser20171Pro S20171P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Cys13380Tyr C13380Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Cys13505Tyr C13505Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Cys13572Tyr C13572Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Cys19877Tyr C19877Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Glu12416Gly E12416G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Glu12541Gly E12541G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Glu12608Gly E12608G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Glu18913Gly E18913G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Arg16184His R16184H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg9687His R9687H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg9812His R9812H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg9879His R9879H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ile14477Thr I14477T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile7980Thr I7980T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile8105Thr I8105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile8172Thr I8172T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Phe13282Leu F13282L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe6785Leu F6785L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe6910Leu F6910L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe6977Leu F6977L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys11693Asn K11693N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Lys5196Asn K5196N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Lys5321Asn K5321N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Lys5388Asn K5388N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Lys10197Glu K10197E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Pro9615Thr P9615T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Ile8474Thr I8474T not reviewed Insufficiently evaluated not reviewed unknown Array rs4893852 754 9536 0.0790688 15 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Pro7650Leu P7650L not reviewed Insufficiently evaluated not reviewed unknown Array rs13398235 606 9784 0.0619379 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - TTN Ser5190Asn S5190N not reviewed Insufficiently evaluated not reviewed unknown Array rs11888217 409 9590 0.0426486 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu4259Phe L4259F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile3771Asn I3771N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ile3896Asn I3896N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ile3963Asn I3963N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Thr3715Ile T3715I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Thr3840Ile T3840I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Thr3907Ile T3907I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Met5292Val M5292V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe5202Leu F5202L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN His4852Arg H4852R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Glu4772Lys E4772K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN His4540Leu H4540L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Lys4493Thr K4493T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Asp3669Gly D3669G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Asn3540Ser N3540S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys3115Glu K3115E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys3161Glu K3161E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gly2346Ser G2346S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Gly2392Ser G2392S not reviewed Insufficiently evaluated not reviewed unknown Array rs4894048 509 10758 0.0473136 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ile2072Thr I2072T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile2118Thr I2118T not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Thr1442Met T1442M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr1488Met T1488M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Lys515Glu K515E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ala405Thr A405T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala352Thr A352T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTPAL Asp149Gly D149G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 4 Y 0 N - - TTPAL Asn181Asp N181D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - TTRAP Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - TTYH1 Val255Ala V255A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.472 - - 2 - 1 N - - TUBA1A Leu189Phe L189F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TUBA3C Ala330Val A330V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBA3C Ile219Thr I219T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUBAL3 Met384Val M384V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.141 - - 0 - 0 N - - TUBAL3 Gln135His Q135H not reviewed Insufficiently evaluated not reviewed unknown Array rs11818372 190 10754 0.0176678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - -1 - 2 - 2 - - TUBAL3 Ser92Pro S92P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - TUBAL3 Thr87Met T87M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.217 - - 2 - 1 N - - TUBAL3 Glu50Gly E50G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TUBB1 Phe212Leu F212L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - TUBB1 Gly223Arg G223R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 6 Y 2 N - - TUBB3 Ser48Gly S48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - TUBB4Q Ser385Asn S385N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBB4Q Arg334Lys R334K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TUBB6 Glu194Asp E194D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.144 - - -2 - 0 N - - TUBGCP2 Phe699Leu F699L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 1 - 1 - - TUBGCP3 Met243Val M243V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBGCP5 Glu209Gly E209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - TUBGCP5 Leu1020Phe L1020F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBGCP6 Pro1759Arg P1759R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - TUBGCP6 Ser1030Ala S1030A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.691 - - -1 - 1 N - - TUFM Ile66Met I66M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - TULP1 Pro465Thr P465T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 4 Y 2 N - - TULP1 Glu122Asp E122D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.274 Y Y -2 - 4 - 1 - - TULP2 Arg262His R262H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.54 - - 1 - 1 N - - TULP3 Arg380His R380H not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TUSC2 Pro104Ala P104A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 2 - 2 N - - TUSC2 Phe103Leu F103L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - TUSC5 Pro15Ala P15A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - TUSC5 Ala18Pro A18P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUSC5 Phe20Cys F20C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 5 - - TUT1 Val848Ile V848I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TWF1 Thr297Ala T297A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TWF1 Tyr115Cys Y115C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TXLNB Asp297Gly D297G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 4 Y 2 N - - TXNDC16 Glu813Gly E813G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TXNDC16 Glu818Gly E818G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - 6 Y 1 N - - TXNDC16 Gly543Val G543V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TXNDC16 Gly548Val G548V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.598 - - 8 Y 1 N - - TXNDC16 Ile462Val I462V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNDC16 Ile467Val I467V not reviewed Insufficiently evaluated not reviewed unknown Array rs61738564 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNDC16 Thr399Ala T399A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC16 Thr404Ala T404A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - TXNDC16 Tyr182Cys Y182C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TXNDC16 Tyr187Cys Y187C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.04 - - 6 Y 0 N - - TXNDC2 Lys324Asn K324N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC2 Lys391Asn K391N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - TXNDC2 Ala394Thr A394T not reviewed Insufficiently evaluated not reviewed unknown Array rs17732496 17 128 0.132812 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TXNDC2 Ala461Thr A461T not reviewed Insufficiently evaluated not reviewed unknown Array 1331 10758 0.123722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TXNDC2 Ala480Thr A480T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC2 Ala547Thr A547T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TXNDC3 Thr318Ile T318I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.175 - Y 3 - 1 N - - TXNDC3 Asp369Asn D369N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.73 - Y -1 - 2 N - - TXNDC3 Tyr432His Y432H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.151 - Y -1 - 2 - 1 - - TXNDC5 Arg295Pro R295P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TXNDC5 Arg403Pro R403P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TXNDC6 Asp261Asn D261N not reviewed Insufficiently evaluated not reviewed unknown Array 299 10756 0.0277984 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TXNDC9 Ile214Leu I214L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.642 - - -2 - 1 N - - TXNIP Cys49Ser C49S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - 3 - 1 N - - TXNIP Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TXNRD2 Ser350Cys S350C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TXNRD2 Gly200Asp G200D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TYK2 Ser837Pro S837P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - TYRO3 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 1 - 1 - - TYROBP Val42Met V42M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.762 Y Y 0 - 3 N - - TYRP1 Asp343Gly D343G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.961 Y - 4 Y 3 N - - TYW1B Met126Ile M126I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - U2AF2 Asp397Glu D397E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - U2AF2 Asp401Glu D401E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 3 - 1 - - UACA Gly1400Arg G1400R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UACA Gly1413Arg G1413R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - UACA Glu1074Gly E1074G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UACA Glu1087Gly E1087G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 6 Y 1 N - - UACA Thr832Ile T832I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UACA Thr845Ile T845I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - UAP1L1 Asp418Glu D418E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - -2 - 1 N - - UBA2 Ala296Val A296V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBA2 Asp561Gly D561G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBA5 Tyr229Cys Y229C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBA5 Tyr285Cys Y285C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - UBA6 Val64Ile V64I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.52 - - -4 - 1 N - - UBA7 Gln635Stop Q635X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBA7 Leu392His L392H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBA7 Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBAC1 Ile350Met I350M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - UBAP2 Tyr617Cys Y617C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - UBAP2 Thr389Pro T389P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - UBAP2 Tyr199His Y199H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - UBAP2L Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - UBE2CBP Ser262Pro S262P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - UBE2G2 Ser105Gly S105G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 2 - 0 N - - UBE2G2 Ser77Gly S77G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBE2J1 Pro215Arg P215R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 5 Y 1 N - - UBE2J2 Trp50Cys W50C not reviewed Insufficiently evaluated not reviewed unknown Array 48 794 0.0604534 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - UBE2L6 Phe57Leu F57L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBE2M Glu117Val E117V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 2 N - - UBE2U Gln208Stop Q208X not reviewed Insufficiently evaluated not reviewed unknown Array 33 10738 0.0030732 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBE3A Phe560Ser F560S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - UBE3A Phe580Ser F580S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - UBE3A Phe583Ser F583S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - UBE3B Met283Val M283V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBE3C Arg1067Stop R1067X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBE4A Asp146Asn D146N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 1 N - - UBE4A Asp251Gly D251G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBL7 Gly330Glu G330E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.061 - - 6 Y 0 N - - UBLCP1 Ala63Asp A63D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UBN1 Asp178Gly D178G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.103 - - 4 Y 0 N - - UBN1 Ser878Leu S878L not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBQLN3 His510Asn H510N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - UBQLN3 Asn285Asp N285D not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 1 - 5 - - UBQLN3 Leu221Gln L221Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 5 Y 1 N - - UBQLNL Gln143Lys Q143K not reviewed Insufficiently evaluated not reviewed unknown Array rs3802978 415 10758 0.0385759 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.046 - - -2 - 0 N - - UBQLNL Asp92Val D92V not reviewed Insufficiently evaluated not reviewed unknown Array 236 10758 0.0219372 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 2 - - UBR1 Thr1548Ser T1548S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 1 - 3 - - UBR1 Gln1462Leu Q1462L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UBR1 Lys986Arg K986R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - -3 - 0 N - - UBR1 Leu929Pro L929P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - UBR1 Lys859Thr K859T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - UBR1 Asn761His N761H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - UBR2 Ser15Arg S15R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 1 - 2 - - UBR2 Phe1424Leu F1424L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.438 - - 0 - 1 N - - UBR2 Thr1462Ala T1462A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - UBR4 Lys4318Glu K4318E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - UBR4 Phe4108Leu F4108L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - UBR4 Thr3367Ala T3367A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - UBR4 Asn3023Ser N3023S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - UBR4 Thr2922Ala T2922A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - UBR4 Cys1698Arg C1698R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - UBR4 Ser893Asn S893N not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - UBR4 Val474Ile V474I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.447 - - -4 - 1 N - - UBR4 Ala177Ser A177S not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBR5 Glu1559Gly E1559G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - UBR5 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - -4 - 1 N - - UBXN11 Pro272Leu P272L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBXN11 Pro359Leu P359L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBXN11 Pro392Leu P392L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10478 0.000286314 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - UBXN2A Ala218Gly A218G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - UBXN6 Pro425Leu P425L not reviewed Insufficiently evaluated not reviewed unknown Array rs35436704 255 10758 0.0237033 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - UBXN6 Gly129Ala G129A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.684 - - 1 - 1 N - - UBXN6 Ala31Pro A31P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 1 - 2 - - UCP2 Ala268Gly A268G not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 6 - - UCRC Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UEVLD Thr169Arg T169R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - UGCGL1 Arg592Gln R592Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGCGL1 Arg616Gln R616Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGCGL2 Ala323Thr A323T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - UGDH Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.365 - - -4 - 1 N - - UGP2 Gly120Ser G120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGP2 Gly131Ser G131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGT1A1 Phe83Ile F83I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - UGT1A1 Arg367Gly R367G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 3 - 9 - - UGT1A1 Tyr486Asn Y486N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - UGT1A10 Arg364Gly R364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A10 Tyr483Asn Y483N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - UGT1A3 Phe110Tyr F110Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGT1A3 Arg368Gly R368G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A3 Tyr487Asn Y487N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - UGT1A4 Pro24Thr P24T not reviewed Insufficiently evaluated not reviewed unknown Array rs6755571 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 4 Y 1 - 10 - - UGT1A4 Arg368Gly R368G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 2 - - UGT1A4 Tyr487Asn Y487N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 3 - - UGT1A5 Phe172Leu F172L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT1A5 Arg368Gly R368G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A5 Tyr487Asn Y487N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - UGT1A6 Asp258Gly D258G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UGT1A6 Arg366Gly R366G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A6 Arg99Gly R99G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A6 Tyr218Asn Y218N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 5 - - UGT1A6 Tyr485Asn Y485N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 5 - - UGT1A7 Gly115Ser G115S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - UGT1A7 Arg364Gly R364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A7 Tyr483Asn Y483N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - UGT1A8 Trp251Cys W251C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT1A8 Arg364Gly R364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A8 Tyr483Asn Y483N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - UGT1A9 Arg208Trp R208W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - UGT1A9 Arg364Gly R364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - UGT1A9 Tyr483Asn Y483N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 4 - - UGT2A1 Cys155Arg C155R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - UGT2A1 Phe90Ile F90I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - UGT2A2 Asn48Ser N48S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT2A3 Ser127Gly S127G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - UGT2B10 Met197Ile M197I not reviewed Insufficiently evaluated not reviewed unknown Array 141 10742 0.013126 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.363 - - -1 - 1 N - - UGT2B10 Asp331Asn D331N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT2B10 Asp415Asn D415N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - UGT2B10 Trp400Cys W400C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT2B10 Trp484Cys W484C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - UGT2B11 Val391Leu V391L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - 0 - 2 N - - UGT2B11 Leu349Pro L349P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT2B17 Lys527Arg K527R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.131 - - -3 - 0 N - - UGT2B4 Ser7Leu S7L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - UGT2B7 Phe174Leu F174L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT2B7 Asp275Tyr D275Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UGT2B7 Val508Ile V508I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGT8 Gly152Arg G152R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - UGT8 Ile534Thr I534T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - UHRF1BP1 Arg827Cys R827C not reviewed Insufficiently evaluated not reviewed unknown Array rs61732794 141 10054 0.0140243 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UHRF1BP1L Ser1017Leu S1017L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10748 0.00307034 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 6 Y 2 N - - UHRF1BP1L Pro787Leu P787L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.834 - - 7 Y 1 N - - UIMC1 Gly596Glu G596E not reviewed Insufficiently evaluated not reviewed unknown Array rs10475633 463 10758 0.0430377 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UIMC1 Ser463Pro S463P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - ULBP1 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ULK1 Leu962Met L962M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - ULK2 Gln905Arg Q905R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ULK2 Ser501Pro S501P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UMOD Thr585Ile T585I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.366 Y Y 3 - 3 N - - UMODL1 Thr412Met T412M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 3 - 1 - - UMODL1 Ala460Val A460V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 2 - 1 N - - UMODL1 Trp645Cys W645C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - UMODL1 Trp773Cys W773C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10000 0.002 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UMODL1 Ala779Thr A779T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - UMODL1 Ala907Thr A907T not reviewed Insufficiently evaluated not reviewed unknown Array 17 9906 0.00171613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UMODL1 Asp1105His D1105H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - UMODL1 Asp1233His D1233H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UMPS Met279Val M279V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 0 - 1 N - - UNC119 Phe149Ser F149S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 5 Y 3 N - - UNC13B Arg165Gly R165G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.228 - - 6 Y 1 N - - UNC13C Leu456Phe L456F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - UNC13C Asp713Asn D713N not reviewed Insufficiently evaluated not reviewed unknown Array 9 9768 0.000921375 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - -1 - 2 N - - UNC13D Arg928His R928H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10734 0.000931619 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 1 - 2 N - - UNC13D Val779Leu V779L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - UNC13D Ile712Met I712M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y -1 - 2 N - - UNC13D Arg527Trp R527W not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.018 Y Y 7 Y 3 - 1 - - UNC45A Asp73Val D73V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - 8 Y 1 N - - UNC45A Asp88Val D88V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - UNC45A Gly463Cys G463C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC45A Gly478Cys G478C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - UNC45B Val130Ala V130A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - UNC45B Val442Met V442M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - UNC45B Thr473Asn T473N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - UNC45B Asp730Ala D730A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UNC45B Asp732Ala D732A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10752 0.00585938 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.16 - - 5 Y 0 N - - UNC50 Phe108Val F108V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UNC50 Gly203Asp G203D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - UNC5A Ala233Thr A233T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UNC5A Gly405Cys G405C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC5B Ser218Leu S218L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UNC5B Ser218Trp S218W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.756 - - 7 Y 1 N - - UNC5B Val245Met V245M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - UNC5B Gly493Arg G493R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - UNC5B Asn569Ser N569S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - UNC5C Leu743Pro L743P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC5D Arg783Gln R783Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - UNC84A Thr10Met T10M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC84A Thr60Met T60M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - UNC84A Arg44His R44H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - UNC84A Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - UNC84B Gln608His Q608H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UNC93A Glu189Ala E189A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UNC93A Glu231Ala E231A not reviewed Insufficiently evaluated not reviewed unknown Array rs34957443 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - UNC93A Gln273Arg Q273R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC93A Gln315Arg Q315R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - UNC93B1 Arg402Pro R402P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UNKL Pro57Ala P57A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNQ9391 Gln42His Q42H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UPF3A Arg344Trp R344W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UPF3A Arg377Trp R377W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UPK1A Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.244 - - -4 - 2 - 1 - - UPK2 Gly173Ala G173A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - UPK3B Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - UPLP Arg184His R184H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UPP2 Arg16Lys R16K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UPP2 Arg73Lys R73K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - UQCC Trp111Stop W111X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UQCRC1 Val77Ala V77A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UQCRC2 Val432Phe V432F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - UQCRHL Cys81Gly C81G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UQCRHL Tyr53Cys Y53C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UQCRHL Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UQCRHL Glu6Lys E6K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - URB1 Arg1898Cys R1898C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - URB1 Asn1416Thr N1416T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - URB1 Arg1121His R1121H not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - URB2 Ile66Val I66V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - URB2 Met630Val M630V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - UROD Arg122Gln R122Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 0 - 1 N - - USF1 Asp154Gly D154G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USF1 Asp213Gly D213G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - USH1C Ser281Arg S281R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - USH2A Ile5126Thr I5126T not reviewed Insufficiently evaluated not reviewed unknown Array 263 10758 0.0244469 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.576 Y Y 3 - 4 - 1 - - USH2A Asp5103Asn D5103N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y -1 - 4 N - - USH2A Ser5032Gly S5032G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - USH2A Ala4778Asp A4778D not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 5 Y 2 N - - USH2A Gly4759Glu G4759E not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - USH2A Tyr4273His Y4273H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - USH2A Ile4186Thr I4186T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 3 - 2 N - - USH2A Thr4169Ala T4169A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.157 Y Y 1 - 2 N - - USH2A Ser3743Asn S3743N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.697 Y Y 0 - 3 N - - USH2A Pro3202Ala P3202A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.074 Y Y 2 - 2 N - - USH2A Asp3144Asn D3144N not reviewed Insufficiently evaluated not reviewed unknown Array rs11120645 410 10756 0.0381183 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.168 Y Y -1 - 3 - 2 - - USH2A Asn3099Ser N3099S not reviewed Insufficiently evaluated not reviewed unknown Array rs41277194 475 10758 0.0441532 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.662 Y Y 0 - 4 - 2 - - USH2A Arg2875Gln R2875Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12118814 331 10758 0.0307678 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.077 Y Y 0 - 3 - 2 - - USH2A Lys2532Thr K2532T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.576 Y Y 3 - 3 N - - USH2A Ile2399Val I2399V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y -4 - 2 N - - USH2A Gly1951Val G1951V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.129 Y Y 8 Y 2 N - - USH2A Ser1532Asn S1532N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.769 Y Y 0 - 3 N - - USH2A Thr327Ile T327I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - USH2A Gln271Arg Q271R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.934 Y Y 0 - 4 N - - USHBP1 Pro418Arg P418R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 5 Y 1 N - - USP10 Gly326Ser G326S not reviewed Insufficiently evaluated not reviewed unknown Array 16 9948 0.00160836 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP11 Asp479Asn D479N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - USP11 Val515Met V515M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - USP11 Ser733Thr S733T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 0 N - - USP15 Thr157Ala T157A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.585 - - 1 - 1 N - - USP15 Gln348Arg Q348R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - USP2 Asn174Ile N174I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - USP2 Asn383Ile N383I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - USP2 Gln114Arg Q114R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP2 Gln323Arg Q323R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 0 - 1 N - - USP2 Asp84Asn D84N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - USP20 Phe547Tyr F547Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - USP24 Arg2150Gln R2150Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61739739 256 9910 0.0258325 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP24 Cys1217Ser C1217S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP25 Gln164His Q164H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.803 - - -1 - 1 N - - USP25 Pro683Leu P683L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - USP26 His475Tyr H475Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41299088 4 92 0.0434783 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - USP26 Leu165Ser L165S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741870 4 92 0.0434783 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP28 His729Arg H729R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 1 - 2 N - - USP29 Phe325Leu F325L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - USP3 Leu108Pro L108P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP31 Asp1269Asn D1269N not reviewed Insufficiently evaluated not reviewed unknown Array rs35541113 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 2 - 3 - - USP31 Ala552Thr A552T not reviewed Insufficiently evaluated not reviewed unknown Array rs9932912 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.858 - - 1 - 2 N - - USP33 Phe545Ser F545S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - USP33 Phe568Ser F568S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP33 Phe576Ser F576S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - USP33 Arg463Gly R463G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP33 Arg494Gly R494G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - USP36 Arg548Thr R548T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP37 His55Asp H55D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP37 Thr44Ile T44I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP38 Val198Gly V198G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - USP4 Asp320Glu D320E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - USP4 Asp367Glu D367E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 1 - 1 - - USP40 Leu660Val L660V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP40 Ile246Thr I246T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP42 Ser427Ile S427I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP42 Arg1224Cys R1224C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - USP45 Glu797Gln E797Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.556 - - -2 - 1 N - - USP45 Val794Ala V794A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - USP45 Leu707Ile L707I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.158 - - -2 - 0 N - - USP45 Gln652Arg Q652R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10746 0.00186116 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - USP45 Lys650Asn K650N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10748 0.00158169 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - USP45 Ser538Leu S538L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP48 Asp508Gly D508G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - USP48 Gly352Asp G352D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - USP48 Met190Ile M190I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.51 - - -1 - 1 N - - USP54 Gly1449Arg G1449R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - USP6 Ile609Thr I609T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - USP6NL Pro397Leu P397L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP6NL Pro414Leu P414L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9684 0.000206526 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP8 Lys506Gln K506Q not reviewed Insufficiently evaluated not reviewed unknown Array 45 10698 0.00420639 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 1 - 1 - - USP8 Thr692Ile T692I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - USP8 His1067Arg H1067R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - USP9X Pro1049Thr P1049T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USP9X Ile1225Thr I1225T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP9X Ala2522Glu A2522E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP9X Ala2538Glu A2538E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP9Y His61Arg H61R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y 1 - 3 - 2 - - USP9Y Lys300Asn K300N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 1 - 4 N - - USP9Y Leu2527Ser L2527S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 6 Y 2 N - - USPL1 Pro162Ser P162S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - USPL1 Glu305Gly E305G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 2 N - - UTP14C Leu60Trp L60W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - UTP14C Asn107Ser N107S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - UTP14C Pro165Thr P165T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 1 - 1 - - UTP14C Glu453Asp E453D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - UTP15 Tyr135Cys Y135C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.345 - - 6 Y 1 N - - UTP15 Tyr228His Y228H not reviewed Insufficiently evaluated not reviewed unknown Array rs16870608 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.366 - - -1 - 1 N - - UTP15 Thr278Ala T278A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - UTP20 Glu1451Gly E1451G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UTP20 Val2554Phe V2554F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.735 - - 3 - 1 N - - UTP23 His170Arg H170R not reviewed Insufficiently evaluated not reviewed unknown Array rs16888722 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 3 - 2 - - UTP6 Glu220Lys E220K not reviewed Insufficiently evaluated not reviewed unknown Array 175 10756 0.01627 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTP6 Arg70Gly R70G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 2 N - - UTP6 Thr48Ala T48A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UTP6 Lys35Arg K35R not reviewed Insufficiently evaluated not reviewed unknown Array rs16967042 174 10756 0.016177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - -3 - 0 N - - UTP6 Leu24Pro L24P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - UTRN Gln960Arg Q960R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTRN Gly1047Arg G1047R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UTRN Gln2316Arg Q2316R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTRN Lys2923Glu K2923E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UVRAG His580Gln H580Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VAPB Thr23Ile T23I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.907 Y Y 3 - 4 N - - VARS2 Thr159Met T159M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - VARS2 Val910Met V910M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - VASN Arg216His R216H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - VAV1 Gly481Ala G481A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.562 - - 1 - 1 N - - VAV2 Ile779Met I779M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751477 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VAV2 Ile818Met I818M not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VAV3 Val153Gly V153G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - VCAM1 Ser318Phe S318F not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - VCAM1 Ile624Leu I624L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 10 - - VCAM1 Ile716Leu I716L not reviewed Insufficiently evaluated not reviewed unknown Array rs3783615 199 10758 0.0184979 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.505 - - -2 - 2 - 10 - - VCAN Trp298Arg W298R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - VCAN Ser467Pro S467P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y 3 - 5 - 1 - - VCAN Met619Val M619V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.478 Y Y 0 - 3 N - - VCAN Glu1058Gly E1058G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.84 Y Y 6 Y 3 N - - VCAN Thr1719Ser T1719S not reviewed Insufficiently evaluated not reviewed unknown Array 143 10750 0.0133023 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - VCAN Ala1859Glu A1859E not reviewed Insufficiently evaluated not reviewed unknown Array rs34050047 148 10756 0.0137598 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - VCAN Val2460Ala V2460A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.154 Y Y 2 - 2 N - - VCAN Ala3035Val A3035V not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 2 - 2 N - - VCAN Trp3225Arg W3225R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - VCAN Trp484Arg W484R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - VCX2 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array 1979 8584 0.230545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 2 - - VCX2 Ala70Gly A70G not reviewed Insufficiently evaluated not reviewed unknown Array rs41309545 6121 7766 0.788179 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VCX3B Leu194Pro L194P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VCX3B Met200Val M200V not reviewed Insufficiently evaluated not reviewed unknown Array 18 8282 0.00217339 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VDR Glu269Gly E269G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 4 - 1 - - VDR Met1Arg M1R benign Insufficiently evaluated benign unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 4 Y 4 - 10 - - Association with higher bone mineral density VEGFB Pro91His P91H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - VEGFB Gln96Glu Q96E not reviewed Insufficiently evaluated not reviewed unknown Array 19 10720 0.00177239 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.453 - - -2 - 1 N - - VEPH1 Pro717Ala P717A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - VGLL1 His154Tyr H154Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - VGLL4 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - VGLL4 Arg10His R10H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VGLL4 Arg14His R14H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VGLL4 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - VHLL Glu52Lys E52K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - VIL1 Val258Leu V258L not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - VIL1 Arg630Cys R630C not reviewed Insufficiently evaluated not reviewed unknown Array rs35470223 155 10758 0.0144079 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 8 Y 0 N - - VILL Lys573Asn K573N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VILL Asp808Glu D808E not reviewed Insufficiently evaluated not reviewed unknown Array 28 10740 0.00260708 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - VIM Thr266Ala T266A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.296 - - 1 - 1 N - - VIPR1 Leu234Pro L234P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - VLDLR Pro35Leu P35L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 7 Y 2 N - - VLDLR Asp214Asn D214N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.583 Y Y -1 - 3 N - - VLDLR Glu379Gly E379G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 6 Y 4 N - - VLDLR Glu711Gly E711G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 6 Y 2 N - - VLDLR Thr755Pro T755P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - VMO1 Arg88His R88H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.708 - - 1 - 1 N - - VN1R1 Arg133Gly R133G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - VN1R1 Asp39Gly D39G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.865 - - 4 Y 2 N - - VN1R2 Gly47Ser G47S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VN1R2 Arg49His R49H not reviewed Insufficiently evaluated not reviewed unknown Array 67 9696 0.00691007 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VN1R2 Gln96Arg Q96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - VN1R2 Asn302Lys N302K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.287 - - 1 - 1 N - - VN1R4 Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VNN1 Glu296Asp E296D not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 3 - - VNN1 Asp218Asn D218N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - VNN1 Ile99Phe I99F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 2 N - - VNN2 Asp112Glu D112E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VNN2 Asp59Glu D59E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VNN2 Leu53Pro L53P not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VNN3 Ala34Val A34V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 2 - 1 N - - VPREB1 Gly80Ser G80S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.971 - - 2 - 3 - 1 - - VPREB1 Ala119Ser A119S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10728 0.000279642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VPREB3 Gly120Ser G120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VPREB3 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array rs34372784 637 10752 0.0592448 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 4 - - VPS11 Ser642Stop S642X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VPS13A Glu610Asp E610D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - VPS13A Ile1942Thr I1942T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - VPS13A Ile1981Thr I1981T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.24 - Y 3 - 2 N - - VPS13A Met2007Ile M2007I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - VPS13A Met2046Ile M2046I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 - Y -1 - 1 N - - VPS13A Phe2624Ser F2624S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - VPS13A Phe2663Ser F2663S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y 5 Y 3 N - - VPS13B Ser750Gly S750G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 2 - 2 N - - VPS13B Thr1921Ala T1921A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - VPS13B Thr1946Ala T1946A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.14 Y Y 1 - 2 N - - VPS13B Asn3351Ile N3351I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - VPS13B Asn3376Ile N3376I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 7 Y 2 N - - VPS13B Lys3381Thr K3381T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - VPS13B Lys3406Thr K3406T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.27 Y Y 3 - 3 N - - VPS13B Ala3412Val A3412V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - VPS13B Ala3437Val A3437V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - VPS13B Ser3489Gly S3489G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - VPS13B Ser3514Gly S3514G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.012 Y Y 2 - 2 N - - VPS13C Ile3683Thr I3683T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VPS13C Ile3726Thr I3726T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - VPS13C Asn3681Lys N3681K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13C Asn3724Lys N3724K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13C Met2426Val M2426V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Met2469Val M2469V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Asn1912His N1912H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Asn1955His N1955H not reviewed Insufficiently evaluated not reviewed unknown Array 170 10750 0.015814 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - VPS13C Met1131Val M1131V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Met1174Val M1174V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - VPS13C Thr423Ala T423A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13C Thr466Ala T466A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - VPS13C Lys370Arg K370R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VPS13C Lys413Arg K413R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.117 - - -3 - 0 N - - VPS13C Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - VPS13C Val190Ile V190I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - VPS13D Asn878Ser N878S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - VPS13D Leu1886Pro L1886P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - VPS13D Thr2107Met T2107M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VPS13D Ile2993Met I2993M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VPS13D Ile3018Met I3018M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VPS13D Thr3112Pro T3112P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS13D Thr3137Pro T3137P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS16A Tyr259Cys Y259C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS16A Tyr631Cys Y631C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS16A Tyr775Cys Y775C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS26B Ser21Arg S21R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 3 - 0 N - - VPS26B Asn225Ser N225S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.093 - - 0 - 0 N - - VPS35 Leu757Phe L757F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - VPS37B Gln81Arg Q81R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - VPS37C Pro214Arg P214R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10746 0.00576959 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - VPS37C Thr8Ser T8S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.406 - - -2 - 1 N - - VPS37C Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - VPS4B Pro400Ser P400S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - VPS4B Tyr34His Y34H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - VPS52 Met126Leu M126L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - -3 - 2 N - - VPS54 Asn586Ser N586S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS54 Asn598Ser N598S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS8 Cys15Stop C15X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VSIG2 Val253Met V253M not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - VSIG2 Leu4His L4H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VSIG4 Leu53Ser L53S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 6 Y 0 N - - VSIG8 Arg136Trp R136W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - VSIG8 Leu90His L90H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.789 - - 6 Y 1 N - - VSTM1 Ser189Pro S189P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VSX1 Gly356Glu G356E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.023 - - 6 Y 0 N - - VSX2 Met183Val M183V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.627 Y Y 0 - 3 N - - VTA1 Asp180His D180H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.148 - - 3 - 0 N - - VTA1 Thr198Ile T198I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - VTN His385Leu H385L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - VWA1 Gly263Glu G263E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - VWA1 Gly51Glu G51E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VWA2 Asp566Gly D566G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - VWA3B Asp423Val D423V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - VWA5B2 Ala1122Val A1122V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VWCE Arg919His R919H not reviewed Insufficiently evaluated not reviewed unknown Array rs61736713 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - VWCE Arg396Gly R396G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - VWCE Ser200Thr S200T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - VWCE Gly31Trp G31W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - VWDE Arg1516Stop R1516X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VWDE Val1475Ile V1475I not reviewed Insufficiently evaluated not reviewed unknown Array 37 3234 0.0114409 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VWDE Asn986Ser N986S not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - VWDE Ser912Thr S912T not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VWDE Ser908Phe S908F not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VWDE Met614Lys M614K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VWDE Arg539His R539H not reviewed Insufficiently evaluated not reviewed unknown Array 27 3232 0.00835396 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VWDE Asp512Glu D512E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VWDE Asp430Glu D430E not reviewed Insufficiently evaluated not reviewed unknown Array 26 3220 0.00807453 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VWDE Arg385Gln R385Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWDE Tyr308Cys Y308C not reviewed Insufficiently evaluated not reviewed unknown Array 27 3230 0.00835913 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VWDE Leu45Phe L45F not reviewed Insufficiently evaluated not reviewed unknown Array 80 3234 0.0247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWF Leu2629Gln L2629Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.064 Y Y 5 Y 2 N - - VWF Arg2478Gln R2478Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.027 Y Y 0 - 2 N - - VWF Glu2353Asp E2353D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y -2 - 4 N - - VWF Gly1952Ser G1952S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 2 - 4 N - - VWF Thr346Ile T346I not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.288 Y Y 3 - 3 N - - WAC Ser37Gly S37G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 1 - 7 - - WAPAL Arg1045Trp R1045W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - WAPAL His121Arg H121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.8 - - 1 - 1 N - - WARS2 Ile317Val I317V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.119 - - -4 - 0 N - - WASL Ile241Val I241V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.332 - - -4 - 1 N - - WBSCR16 Pro84Ala P84A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WBSCR16 Pro75Ala P75A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - WDFY1 Leu307Pro L307P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.212 - - 7 Y 1 N - - WDFY1 Ile130Met I130M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - WDFY3 Glu1611Gly E1611G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - WDFY3 Cys1503Arg C1503R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - WDFY3 Ile1414Thr I1414T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 3 - 1 N - - WDFY4 Ser944Phe S944F not reviewed Insufficiently evaluated not reviewed unknown Array rs12242384 34 3234 0.0105133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - WDFY4 Thr1588Lys T1588K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDHD1 Leu718Pro L718P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDHD1 Leu841Pro L841P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.355 - - 7 Y 1 N - - WDHD1 Met643Thr M643T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDHD1 Met766Thr M766T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - WDHD1 Glu338Asp E338D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDHD1 Glu461Asp E461D not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - WDR12 Thr248Ala T248A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR16 Ile72Val I72V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - WDR16 Thr523Ile T523I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR16 Thr591Ile T591I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - 3 - 0 N - - WDR17 Pro409Ser P409S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR17 Pro433Ser P433S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - WDR18 Leu244Pro L244P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - WDR21A Arg269Lys R269K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - WDR21A Arg339Lys R339K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - WDR21A Arg439Lys R439K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 4 - - WDR23 Ala100Pro A100P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR23 Ala126Pro A126P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR23 Tyr486Stop Y486X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WDR23 Tyr512Stop Y512X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WDR25 His228Arg H228R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - WDR27 Ala76Gly A76G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 1 - 2 N - - WDR3 Pro229Leu P229L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR32 Arg460Gly R460G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR32 Ile521Val I521V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR33 Leu304Phe L304F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR35 Arg534Gln R534Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR35 Arg545Gln R545Q not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - WDR36 Phe278Cys F278C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.777 Y - 4 Y 2 N - - WDR36 Ala707Gly A707G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 1 - 1 N - - WDR4 Glu255Gln E255Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - WDR40C Ser357Cys S357C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR42C Val30Met V30M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR42C Val343Ala V343A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR47 Ala535Val A535V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR47 Ala536Val A536V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR47 Ala543Val A543V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR48 Val20Ala V20A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - 2 - 1 N - - WDR49 His677Gln H677Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10748 0.000837365 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.658 - - -1 - 1 N - - WDR49 Asn573Ser N573S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR49 Thr533Ala T533A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - WDR49 Lys463Asn K463N not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR51A Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - WDR51B Asp382Gly D382G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR52 Arg557Trp R557W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - WDR52 Leu551Pro L551P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - WDR53 Cys248Ser C248S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - 3 - 0 N - - WDR6 Ser368Leu S368L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR6 Leu1042Pro L1042P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR60 Val723Ile V723I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10656 9.3843e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR61 Asp272Gly D272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 4 Y 2 N - - WDR61 Tyr162Cys Y162C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - WDR62 Val963Met V963M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR62 Ala1266Gly A1266G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - WDR62 Ala1271Gly A1271G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR63 Lys67Arg K67R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - WDR63 Lys851Thr K851T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR65 Ala183Ser A183S not reviewed Insufficiently evaluated not reviewed unknown Array rs6663799 274 10758 0.0254694 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - WDR66 Gly16Glu G16E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR67 Met605Ile M605I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - WDR69 Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 3 - 2 - - WDR69 Gly259Ser G259S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.093 - - 2 - 1 - 3 - - WDR7 Thr19Ala T19A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - WDR7 Leu48Pro L48P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - WDR7 Ile377Met I377M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - WDR7 Val433Ile V433I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - WDR7 Leu544Pro L544P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 7 Y 1 N - - WDR7 Gly600Arg G600R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - WDR7 Lys868Asn K868N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 0 N - - WDR72 Leu1048Val L1048V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - WDR72 Asp495Val D495V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - WDR72 Ile392Thr I392T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - WDR72 His267Tyr H267Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.097 - - -1 - 0 N - - WDR72 Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - WDR73 Asp334Val D334V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.777 - - 8 Y 1 N - - WDR75 Glu442Gly E442G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 1 N - - WDR76 Ala8Thr A8T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - WDR78 Ile730Thr I730T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR78 Trp727Stop W727X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WDR78 Phe175Ser F175S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR85 Ser353Leu S353L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.266 - - 6 Y 1 N - - WDR85 Gly158Arg G158R not reviewed Insufficiently evaluated not reviewed unknown Array rs821314 318 10758 0.0295594 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - WDR85 Glu139Gly E139G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR87 Glu1842Gly E1842G not reviewed Insufficiently evaluated not reviewed unknown Array 57 3234 0.0176252 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR87 Pro1316Ser P1316S not reviewed Insufficiently evaluated not reviewed unknown Array 57 3234 0.0176252 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR90 Leu120Trp L120W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 5 Y 0 N - - WDR90 Gly1022Arg G1022R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR90 Asp1061Asn D1061N not reviewed Insufficiently evaluated not reviewed unknown Array 28 10370 0.0027001 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - -1 - 1 N - - WDR91 Lys662Arg K662R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - WDR93 Arg649His R649H not reviewed Insufficiently evaluated not reviewed unknown Array rs35389334 212 10758 0.0197063 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - WDTC1 Ser22Asn S22N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WFDC3 Asn217Lys N217K not reviewed Insufficiently evaluated not reviewed unknown Array 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.105 - - 1 - 0 N - - WFDC5 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - WFDC9 Ile12Thr I12T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 1 - 1 - - WFS1 Pro52Thr P52T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10554 0.000189501 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 4 Y 3 - 1 - - WFS1 His109Tyr H109Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.372 Y Y -1 - 3 N - - WFS1 Ala150Val A150V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10732 0.000186358 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.078 Y Y 2 - 3 - 1 - - WFS1 Phe417Ser F417S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 5 Y 4 N - - WFS1 Asn500Lys N500K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 1 - 2 N - - WHSC1 Thr444Ala T444A not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WIPF1 Thr472Ala T472A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WIPF3 Val477Leu V477L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - WISP1 Pro155Leu P155L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - WISP3 Arg60Cys R60C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - WISP3 Arg78Cys R78C not reviewed Insufficiently evaluated not reviewed unknown Array rs17073260 371 10758 0.034486 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - WISP3 Val104Leu V104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - WISP3 Val122Leu V122L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - WNK1 Thr305Ala T305A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - WNK2 Met636Val M636V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10746 0.0017681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WNK2 Gly908Ala G908A not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WNK2 Ala920Pro A920P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WNK3 Arg916Trp R916W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - 7 Y 0 N - - WNK3 Gln704His Q704H not reviewed Insufficiently evaluated not reviewed unknown Array rs56077971 100 8761 0.0114142 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - WNK3 Arg155Gly R155G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - WNK4 Arg279His R279H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - WNK4 Leu533Pro L533P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.578 Y - 7 Y 2 N - - WNT1 Arg122Leu R122L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - WNT11 Lys180Gln K180Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.609 - - -2 - 1 N - - WNT16 Trp167Arg W167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WNT16 Trp177Arg W177R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 7 Y 2 N - - WNT2B Gln371His Q371H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - WNT2B Gln390His Q390H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 2 - 1 - - WNT7B Glu193Gly E193G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - WRAP53 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WRN Glu510Gly E510G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - WRN Lys1039Glu K1039E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - WRN Phe1375Leu F1375L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - WSCD1 Ala202Val A202V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WSCD1 Arg453His R453H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - WTAP Cys161Tyr C161Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - WWC1 Leu783Ile L783I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.104 - - -2 - 0 N - - WWC1 Ser975Leu S975L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - WWC1 Ile1105Val I1105V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - WWP2 Gly226Asp G226D not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WWP2 Leu302Pro L302P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - XBP1 Lys209Ile K209I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XBP1 Asn218Tyr N218Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - XCL1 Thr106Ser T106S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - -2 - 1 N - - XDH Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - XDH Leu6Phe L6F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.438 Y - 0 - 3 - 9 - - XIAP Arg365Gly R365G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 6 Y 2 N - - XIRP1 Gly1820Glu G1820E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XIRP1 Val1768Met V1768M not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP1 Gln1448Arg Q1448R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP1 Val1356Ala V1356A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XIRP1 Pro876Ala P876A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.662 - - 2 - 1 N - - XIRP1 Gly672Cys G672C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 7 Y 2 N - - XIRP2 Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10108 9.8931e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - XIRP2 Thr1858Met T1858M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9606 0.000104101 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XIRP2 Ile2114Thr I2114T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Asp2177Asn D2177N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - -1 - 1 N - - XIRP2 Ser2493Phe S2493F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9760 0.000102459 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - XIRP2 Leu2598Arg L2598R not reviewed Insufficiently evaluated not reviewed unknown Array rs16853326 175 9618 0.018195 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.769 - - 6 Y 2 - 1 - - XIRP2 Tyr2890Cys Y2890C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XIRP2 Glu2965Gly E2965G not reviewed Insufficiently evaluated not reviewed unknown Array 5 9514 0.000525541 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.675 - - 6 Y 1 N - - XIRP2 Glu3323Asp E3323D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - XKR3 Met158Val M158V not reviewed Insufficiently evaluated not reviewed unknown Array 72 9816 0.00733496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XKR3 His121Tyr H121Y not reviewed Insufficiently evaluated not reviewed unknown Array 71 9574 0.00741592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - XKR9 Val114Leu V114L not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - XKR9 Arg366Lys R366K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.141 - - -3 - 0 N - - XPC Arg651Ser R651S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - XPC Arg688Ser R688S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - XPC Leu410Ile L410I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - XPC Leu447Ile L447I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - XPC Phe250Cys F250C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - XPC Phe287Cys F287C not reviewed Insufficiently evaluated not reviewed unknown Array rs35629274 65 9828 0.00661376 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - XPNPEP3 Leu486Phe L486F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 1 - - XPO5 Ile1111Met I1111M not reviewed Insufficiently evaluated not reviewed unknown Array 4 9786 0.000408747 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - XPO5 Val495Ile V495I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XPO6 His751Gln H751Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 3 - 1 - - XPO6 Ile661Val I661V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10192 9.8116e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XPR1 Cys415Arg C415R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - XRCC1 Val72Ala V72A not reviewed Insufficiently evaluated not reviewed unknown Array rs25496 233 10758 0.0216583 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 10 - - XRCC2 Gln248Arg Q248R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRCC5 Arg431Trp R431W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - XRN1 Ala1639Thr A1639T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XRN1 Ala1652Thr A1652T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 1 - 0 N - - XRN2 Tyr84His Y84H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - XRN2 Gln540Glu Q540E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - -2 - 1 N - - XRN2 Lys640Arg K640R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.728 - - -3 - 1 N - - XRRA1 Arg701Gln R701Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.119 - - 0 - 0 N - - XRRA1 Ile631Thr I631T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10102 0.0107899 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - XYLT1 Ala223Gly A223G not reviewed Insufficiently evaluated not reviewed unknown Array 607 10758 0.0564231 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - XYLT2 Val409Ala V409A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 2 - 1 N - - YAP1 Asn261Ser N261S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YAP1 Asn299Ser N299S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YARS Glu361Val E361V not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - YARS Val110Ala V110A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 2 - 3 N - - YEATS2 Gln171Leu Q171L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 5 Y 0 N - - YEATS2 Thr534Lys T534K not reviewed Insufficiently evaluated not reviewed unknown Array rs34759333 129 9518 0.0135533 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - 3 - 1 N - - YES1 Ile95Val I95V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - YIPF6 Phe120Cys F120C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - YLPM1 Pro329Gln P329Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 9692 0.00412712 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 1 N - - YLPM1 Gln1638His Q1638H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - YME1L1 Glu392Gly E392G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - YME1L1 Glu449Gly E449G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - YPEL4 Ser89Asn S89N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YSK4 Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - YSK4 Ile126Leu I126L not reviewed Insufficiently evaluated not reviewed unknown Array rs6715812 92 10758 0.00855177 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - YTHDC1 Val159Ala V159A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - YTHDC2 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - YTHDC2 Ile368Val I368V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - YTHDC2 Met1286Val M1286V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YTHDF3 Gln45Lys Q45K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - YY1AP1 Gln435Arg Q435R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YY1AP1 Gln481Arg Q481R not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YY1AP1 Ser263Thr S263T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - YY1AP1 Gln75Arg Q75R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.819 - - 0 - 1 N - - YY1AP1 Gln9Arg Q9R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZAK Arg580Trp R580W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 6 - - ZAN Thr917Pro T917P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZAN Pro1423Ser P1423S not reviewed Insufficiently evaluated not reviewed unknown Array 363 10230 0.0354839 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Pro2416Thr P2416T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZAP70 Phe115Ile F115I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 2 - 4 N - - ZAP70 Val356Ala V356A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.977 Y Y 2 - 4 N - - ZAP70 Val49Ala V49A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ZBBX Gln215Lys Q215K not reviewed Insufficiently evaluated not reviewed unknown Array 57 9504 0.00599747 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBED2 His62Arg H62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 2 N - - ZBED4 Ala59Pro A59P not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBED5 Ser602Pro S602P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 3 - 1 N - - ZBED5 Glu417Gly E417G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 2 N - - ZBP1 Gly232Arg G232R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZBP1 Cys67Arg C67R not reviewed Insufficiently evaluated not reviewed unknown Array rs34055120 204 10758 0.0189626 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZBTB16 Tyr88His Y88H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 3 - 1 - - ZBTB16 Ala201Thr A201T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 1 - 1 N - - ZBTB22 Pro444Gln P444Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZBTB22 Gly238Cys G238C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZBTB24 Cys327Ser C327S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 3 - 2 N - - ZBTB24 Glu244Gln E244Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBTB32 Ser82Asn S82N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.784 - - 0 - 1 N - - ZBTB33 Leu82Pro L82P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZBTB34 Arg148Gln R148Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10264 9.7427e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB38 Asn1078Ser N1078S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB39 Pro206Leu P206L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - ZBTB4 Ala807Thr A807T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB40 Lys1095Glu K1095E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ZBTB41 Gly276Glu G276E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZBTB41 Tyr36Cys Y36C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - ZBTB43 Gln61Arg Q61R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - ZBTB43 Gln111Arg Q111R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ZBTB44 Thr278Ala T278A not reviewed Insufficiently evaluated not reviewed unknown Array 154 9930 0.0155086 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB5 Ser344Gly S344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - ZBTB5 Ala246Val A246V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZBTB7B His392Tyr H392Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZBTB8A Glu205Ala E205A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZBTB9 Pro237Leu P237L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ZC3H12A Arg489Gly R489G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - ZC3H13 Thr1086Ser T1086S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZC3H13 Thr948Ala T948A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZC3H13 Ser528Arg S528R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZC3H13 Pro523Ser P523S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZC3H14 Ser41Pro S41P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZC3H14 Ser75Pro S75P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - ZC3H14 Gln329Arg Q329R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZC3H14 Gln363Arg Q363R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ZC3H3 Arg751His R751H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.278 - - 1 - 1 N - - ZC3H7A His931Pro H931P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 1 N - - ZC3H7B Tyr68Stop Y68X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZC3H7B Gly531Ala G531A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZC3H7B Lys740Arg K740R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZC3HAV1 Gln79Stop Q79X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZC3HAV1L Cys298Arg C298R not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZC3HAV1L Gln138Arg Q138R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 1 N - - ZCCHC11 Arg1045Gly R1045G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZCCHC11 Val696Phe V696F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - ZCCHC11 Ile360Thr I360T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - ZCCHC13 Gly95Ser G95S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - ZCCHC13 Ser161Asn S161N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - ZCCHC17 Asp222Gly D222G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - 4 Y 2 N - - ZCCHC5 Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - ZCCHC6 Val556Ala V556A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 2 - 2 N - - ZCCHC6 Arg345Gly R345G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - 6 Y 1 N - - ZCCHC8 Pro494Leu P494L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10588 0.00273895 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZCCHC9 Arg14Gly R14G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.925 - - 6 Y 2 N - - ZDBF2 Gln129Leu Q129L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - ZDBF2 Val593Ala V593A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - ZDHHC1 Leu276Pro L276P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - ZDHHC11 Ala303Asp A303D not reviewed Insufficiently evaluated not reviewed unknown Array 214 10426 0.0205256 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - ZDHHC12 Arg117Cys R117C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - ZDHHC5 Pro256Ala P256A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 0 N - - ZDHHC5 Pro256Arg P256R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 5 Y 0 N - - ZDHHC5 Gln306Arg Q306R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 1 N - - ZDHHC6 Gln254Arg Q254R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.386 - - 0 - 1 N - - ZDHHC7 Val11Ile V11I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ZDHHC8 Ser642Pro S642P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - ZEB2 Tyr220Stop Y220X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - ZER1 Phe174Leu F174L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ZFAND1 Lys84Asn K84N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - ZFAND2A Arg139Cys R139C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.717 - - 8 Y 1 N - - ZFHX3 Lys3460Glu K3460E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFHX3 Thr2608Ala T2608A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFHX3 Glu2366Asp E2366D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - -2 - 1 N - - ZFHX3 Gln1762His Q1762H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.514 - - -1 - 1 N - - ZFHX3 Val949Ile V949I not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.055 - - -4 - 0 N - - ZFHX3 Glu860Val E860V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 1 N - - ZFHX3 Asn818Ser N818S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - ZFHX3 Val617Ile V617I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZFHX4 Val66Leu V66L not reviewed Insufficiently evaluated not reviewed unknown Array 289 10362 0.0278904 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFHX4 Glu113Lys E113K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - ZFHX4 Lys1156Asn K1156N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - ZFHX4 Val1298Ile V1298I not reviewed Insufficiently evaluated not reviewed unknown Array 55 9574 0.00574473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZFHX4 Ile1593Thr I1593T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - ZFP106 Arg1599Cys R1599C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ZFP106 Pro1242Leu P1242L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZFP106 Glu1161Asp E1161D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZFP112 His849Arg H849R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP112 His855Arg H855R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP112 Ser421Asn S421N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP112 Ser427Asn S427N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP112 Pro279Leu P279L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFP112 Pro285Leu P285L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFP112 Met235Val M235V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP112 Met241Val M241V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP161 Asp250Gly D250G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ZFP2 Arg142Gly R142G not reviewed Insufficiently evaluated not reviewed unknown Array rs11956147 491 10756 0.0456489 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 3 - - ZFP28 Gly265Arg G265R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ZFP42 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - ZFP64 Asp267Asn D267N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZFP64 Asp319Asn D319N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZFP64 Asp321Asn D321N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 1 N - - ZFP82 Cys343Stop C343X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZFP91 Glu216Gly E216G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 3 - 1 - - ZFPL1 Lys5Glu K5E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ZFPL1 Asn31Ile N31I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - ZFPM1 Asp217Asn D217N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - ZFPM2 Lys834Arg K834R not reviewed Insufficiently evaluated not reviewed unknown Array 27 9960 0.00271084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFR Ala168Thr A168T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFR2 Thr862Lys T862K not reviewed Insufficiently evaluated not reviewed unknown Array 15 10000 0.0015 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.308 - - 3 - 1 N - - ZFR2 Pro225Leu P225L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 7 Y 2 N - - ZFR2 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZFR2 Gly58Ser G58S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747120 528 9906 0.053301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.933 - - 2 - 1 N - - ZFY Asp413Gly D413G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFY Asp527Gly D527G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFY Asp604Gly D604G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - ZFY His570Arg H570R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFY His684Arg H684R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFY His761Arg H761R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 1 - 1 N - - ZFYVE1 Val485Leu V485L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.254 - - 0 - 1 N - - ZFYVE1 Val70Leu V70L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFYVE1 Ser420Pro S420P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFYVE1 Ser5Pro S5P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFYVE1 Ala232Ser A232S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ZFYVE16 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.567 - - -4 - 1 N - - ZFYVE16 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array 224 10744 0.0208488 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFYVE16 Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZFYVE16 Ser1021Gly S1021G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFYVE16 Ser1330Pro S1330P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZFYVE20 Tyr661Cys Y661C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ZFYVE20 Tyr661His Y661H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 3 - 1 - - ZFYVE20 Arg100Lys R100K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -3 - 2 N - - ZFYVE26 Leu448Phe L448F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.92 Y - 0 - 3 N - - ZFYVE27 Pro11Leu P11L not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ZFYVE28 Asp469His D469H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10686 0.00346247 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ZFYVE28 Pro316Ala P316A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - ZFYVE9 Lys134Asn K134N not reviewed Insufficiently evaluated not reviewed unknown Array rs35385323 743 10758 0.0690649 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - ZFYVE9 His392Arg H392R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.773 - - 1 - 1 N - - ZHX2 Thr355Ala T355A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ZHX2 Gly539Ser G539S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ZHX3 Val280Leu V280L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ZIM3 Val463Ile V463I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - -4 - 0 N - - ZIM3 Lys438Stop K438X not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZIM3 Asn433Lys N433K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - ZIM3 Leu127Phe L127F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZKSCAN2 Asp699Val D699V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZKSCAN2 Ala589Ser A589S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZKSCAN2 Arg189Leu R189L not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZKSCAN3 Gly157Glu G157E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - ZKSCAN5 Trp309Arg W309R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZMAT1 Ser210Thr S210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZMAT1 Ser78Thr S78T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZMAT3 Asn115Ser N115S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZMAT5 Pro131Ser P131S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZMIZ1 Gln126Leu Q126L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ZMPSTE24 Asn319Ser N319S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 1 N - - ZMYM1 Lys472Arg K472R not reviewed Insufficiently evaluated not reviewed unknown Array 118 9494 0.0124289 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.697 - - -3 - 1 N - - ZMYM4 Leu67Pro L67P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - ZMYM4 Lys713Arg K713R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - -3 - 2 N - - ZMYM5 Val588Met V588M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - ZMYM5 Thr127Ala T127A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - ZMYM6 Gln415Glu Q415E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZMYND12 Ile4Val I4V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.72 - - -4 - 1 N - - ZMYND17 Ser394Pro S394P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ZMYND19 Lys216Met K216M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 4 Y 0 N - - ZMYND8 Thr165Ala T165A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZMYND8 Thr190Ala T190A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF100 Ala130Val A130V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF107 Cys48Tyr C48Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.526 - - 6 Y 1 N - - ZNF114 His99Asn H99N not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.396 - - 0 - 1 N - - ZNF131 Asp571Asn D571N not reviewed Insufficiently evaluated not reviewed unknown Array 80 9856 0.00811688 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF138 Lys124Thr K124T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF141 Lys124Glu K124E not reviewed Insufficiently evaluated not reviewed unknown Array rs2229296 351 10754 0.032639 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 3 - 4 - - ZNF141 Thr327Ser T327S not reviewed Insufficiently evaluated not reviewed unknown Array 986 10742 0.0917892 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ZNF142 Lys141Gln K141Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733648 135 9950 0.0135678 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF155 Glu431Gly E431G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF157 Glu84Gly E84G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - 6 Y 1 N - - ZNF16 Pro104Leu P104L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - ZNF160 Gly197Ser G197S not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF160 Pro124Ala P124A not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ZNF165 His320Tyr H320Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - -1 - 0 N - - ZNF165 Gly401Ala G401A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF167 Asn694Lys N694K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF169 Ser152Leu S152L not reviewed Insufficiently evaluated not reviewed unknown Array rs34433105 812 10758 0.0754787 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF174 His190Asp H190D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - ZNF174 Arg258Trp R258W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - ZNF175 Gly213Ser G213S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10754 0.00464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF175 Ser562Asn S562N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - ZNF175 Asp647Glu D647E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.138 - - -2 - 0 N - - ZNF175 Pro670Thr P670T not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - 4 Y 1 N - - ZNF175 Thr692Ala T692A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.449 - - 1 - 1 N - - ZNF177 Asp94Val D94V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 3 - 3 - - ZNF180 His655Arg H655R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF181 Ser249Pro S249P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF181 Ser250Pro S250P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 3 - 2 N - - ZNF181 Asn539Ser N539S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF181 Asn540Ser N540S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF193 Gln34Arg Q34R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 1 N - - ZNF20 Ala126Val A126V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743205 158 10560 0.0149621 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF200 Leu354Pro L354P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF200 Leu355Pro L355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 7 Y 2 N - - ZNF202 Arg591Gly R591G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - ZNF202 Val446Ile V446I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - ZNF212 Glu404Gly E404G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - ZNF213 Ala288Val A288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ZNF214 Gly448Arg G448R not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF214 Ser427Pro S427P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF214 Ile270Thr I270T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF215 Val171Ala V171A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ZNF217 Asp889Val D889V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 8 Y 3 - 3 - - ZNF217 Ala886Thr A886T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - ZNF217 Met34Ile M34I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - ZNF221 Ile156Thr I156T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF221 Tyr226Cys Y226C not reviewed Insufficiently evaluated not reviewed unknown Array rs61738847 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ZNF222 Gly263Asp G263D not reviewed Insufficiently evaluated not reviewed unknown Array rs8112679 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - ZNF222 Gly303Asp G303D not reviewed Insufficiently evaluated not reviewed unknown Array 363 10758 0.0337423 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 3 - - ZNF223 Thr311Lys T311K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF223 His391Arg H391R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF224 Ile72Val I72V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - ZNF227 Ser143Pro S143P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - ZNF229 Ser417Arg S417R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF230 Arg184Cys R184C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.055 - - 8 Y 0 N - - ZNF235 Arg723Gly R723G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZNF239 Arg458Cys R458C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF25 Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.595 - - 0 - 2 - 1 - - ZNF257 Met184Leu M184L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF259 Tyr451Ser Y451S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ZNF264 Gly166Asp G166D not reviewed Insufficiently evaluated not reviewed unknown Array rs61730301 456 10758 0.0423871 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF273 Arg147Gly R147G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - ZNF273 His156Arg H156R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.79 - - 1 - 1 N - - ZNF277 Ser57Cys S57C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF28 His229Arg H229R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF280A Val37Met V37M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - ZNF280C Ser183Gly S183G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.743 - - 2 - 1 N - - ZNF280D Val832Ile V832I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF280D Val845Ile V845I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF282 Ala285Val A285V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF282 Leu589Gln L589Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - ZNF283 Arg629Cys R629C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF283 Arg646Ile R646I not reviewed Insufficiently evaluated not reviewed unknown Array rs2883946 414 9948 0.0416164 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ZNF285A Ala28Ser A28S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF292 Gly500Val G500V not reviewed Insufficiently evaluated not reviewed unknown Array 28 9666 0.00289675 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF292 Arg1605His R1605H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9610 0.000208116 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF292 Asn2130Ser N2130S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF295 His739Arg H739R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF295 His940Arg H940R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF295 Thr128Ala T128A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF296 Pro285Leu P285L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10708 0.000373552 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF302 Trp77Ser W77S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF304 His273Arg H273R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.716 - - 1 - 1 N - - ZNF318 Glu1142Gly E1142G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ZNF318 Ala574Thr A574T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - ZNF318 Ser407Thr S407T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.385 - - -2 - 2 - 6 - - ZNF32 His151Gln H151Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - ZNF324B Glu58Asp E58D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF329 Gln202Arg Q202R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF329 Asn182Asp N182D not reviewed Insufficiently evaluated not reviewed unknown Array rs34255209 231 10758 0.0214724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ZNF333 Ser137Phe S137F not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF333 Pro318Ser P318S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - ZNF334 Asn105Asp N105D not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.242 - - -1 - 1 N - - ZNF334 Asn67Asp N67D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF335 Pro1267Gln P1267Q not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - ZNF33B Phe310Val F310V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - ZNF343 Thr451Ala T451A not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - ZNF343 Leu129Phe L129F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - ZNF346 His191Arg H191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF350 Ala382Thr A382T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF350 Ile69Thr I69T not reviewed Insufficiently evaluated not reviewed unknown Array rs4987042 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - ZNF354A Ile566Val I566V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.172 - - -4 - 0 N - - ZNF358 Asn32Ile N32I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.254 - - 7 Y 2 - 3 - - ZNF365 Glu315Lys E315K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF365 Gly366Arg G366R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF365 Lys42Asn K42N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF365 Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF366 Ala655Thr A655T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF37A Asp105Asn D105N not reviewed Insufficiently evaluated not reviewed unknown Array 116 10748 0.0107927 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ZNF383 Ile303Phe I303F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.361 - - 2 - 1 N - - ZNF385A Asp102Glu D102E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - -2 - 0 N - - ZNF385A Asp122Glu D122E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF385B Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF385B Ala350Val A350V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF385B Ala426Val A426V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - ZNF385B His143Tyr H143Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZNF385B His41Tyr H41Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF385B His67Tyr H67Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF385D His387Arg H387R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - ZNF389 Ser82Asn S82N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF391 Ser36Phe S36F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF394 Glu305Asp E305D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.251 - - -2 - 1 N - - ZNF394 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737534 76 10758 0.00706451 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNF394 Ala215Val A215V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737533 75 10752 0.00697545 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF396 Gln296Arg Q296R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - ZNF404 Asn45Asp N45D not reviewed Insufficiently evaluated not reviewed unknown Array 639 9312 0.0686211 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF407 Val1845Ile V1845I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10254 0.000195045 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - ZNF407 Leu2023Val L2023V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF407 Gly2095Ser G2095S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF41 Asn220Lys N220K not reviewed Insufficiently evaluated not reviewed unknown Array rs34301930 286 8761 0.0326447 4 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ZNF410 Asp423Glu D423E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - ZNF415 Cys236Arg C236R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF415 Cys249Arg C249R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF415 Glu48Gly E48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF415 Glu61Gly E61G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF416 Asp121Asn D121N not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.078 - - -1 - 0 N - - ZNF418 Arg664Stop R664X not reviewed Insufficiently evaluated not reviewed unknown Array 20 10742 0.00186185 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF423 Pro390Leu P390L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 7 Y 0 N - - ZNF425 Arg115His R115H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF426 Phe206Leu F206L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - ZNF428 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10150 9.8522e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - ZNF428 Tyr13His Y13H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - -1 - 1 N - - ZNF431 Lys183Glu K183E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF432 Gly297Arg G297R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ZNF44 His443Tyr H443Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61737490 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF440 Pro88Arg P88R not reviewed Insufficiently evaluated not reviewed unknown Array rs448446 395 10758 0.0367169 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - ZNF441 His190Tyr H190Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF442 Arg443Cys R443C not reviewed Insufficiently evaluated not reviewed unknown Array rs10500210 670 10758 0.0622792 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.922 - - 8 Y 2 - 6 - - ZNF442 Gly422Arg G422R not reviewed Insufficiently evaluated not reviewed unknown Array rs11085808 633 10758 0.0588399 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF442 Met396Thr M396T not reviewed Insufficiently evaluated not reviewed unknown Array rs11085809 626 10758 0.0581893 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 1 N - - ZNF442 Pro152Ser P152S not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 1 - 5 - - ZNF442 Pro110Thr P110T not reviewed Insufficiently evaluated not reviewed unknown Array rs10415207 654 10758 0.060792 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF442 Ile93Val I93V not reviewed Insufficiently evaluated not reviewed unknown Array rs10423273 627 10758 0.0582822 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF442 Arg89Gly R89G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 3 - 1 - - ZNF445 Arg1004Gly R1004G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ZNF446 Cys164Arg C164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF446 Pro282Leu P282L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10360 0.000289575 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.897 - - 7 Y 2 N - - ZNF45 Glu323Lys E323K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ZNF451 His516Tyr H516Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZNF461 Glu184Gly E184G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - ZNF462 Val532Ala V532A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF462 Asp535Asn D535N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF462 Asn830Asp N830D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF462 Asp2312Gly D2312G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF467 Ala404Thr A404T not reviewed Insufficiently evaluated not reviewed unknown Array 429 8124 0.0528065 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - ZNF468 Ser167Arg S167R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 3 - 2 N - - ZNF468 Ser220Arg S220R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.092 - - 3 - 0 N - - ZNF468 Gly6Ser G6S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10748 0.00158169 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - ZNF469 Ala803Ser A803S not reviewed Insufficiently evaluated not reviewed unknown Array 16 3210 0.00498442 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - ZNF469 Ala1416Val A1416V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ZNF469 Leu1496Arg L1496R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - ZNF469 Val2153Ile V2153I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.445 - - -4 - 1 N - - ZNF469 Pro2287Arg P2287R not reviewed Insufficiently evaluated not reviewed unknown Array 25 3162 0.00790639 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - ZNF469 Arg2359His R2359H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.142 - - 1 - 0 N - - ZNF469 Val3591Leu V3591L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF473 Glu811Gln E811Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - -2 - 2 N - - ZNF474 Glu46Asp E46D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - ZNF480 Arg494Stop R494X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF485 Ser103Pro S103P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF486 Gly118Ser G118S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF486 Ser447Leu S447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF491 Cys136Phe C136F not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ZNF491 Arg151Stop R151X not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF496 Arg556Leu R556L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ZNF503 Ser557Thr S557T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10694 0.00018702 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.194 - - -2 - 0 N - - ZNF503 Asp29Asn D29N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 1 N - - ZNF507 Pro838Leu P838L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ZNF509 Val122Leu V122L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF509 Glu346Lys E346K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF509 Thr373Met T373M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF510 Asn15Asp N15D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF512B Ser303Thr S303T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - ZNF514 Ser171Gly S171G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF518A Ser549Arg S549R not reviewed Insufficiently evaluated not reviewed unknown Array 15 9700 0.00154639 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF526 Phe369Cys F369C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ZNF528 Ser419Asn S419N not reviewed Insufficiently evaluated not reviewed unknown Array rs324109 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - 0 - 1 - 2 - - ZNF528 Gly443Ala G443A not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.969 - - 1 - 2 N - - ZNF528 Glu448Lys E448K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF528 Cys551Trp C551W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF530 Glu74Ala E74A not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - ZNF530 Asp126Gly D126G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - ZNF530 Gly174Arg G174R not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - ZNF530 Gly262Ser G262S not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - ZNF532 Asp113Gly D113G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 4 Y 0 N - - ZNF532 Lys313Arg K313R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.762 - - -3 - 1 N - - ZNF532 Thr994Ser T994S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF534 Gln70Arg Q70R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF534 Gln83Arg Q83R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.167 - - 0 - 0 N - - ZNF534 His208Tyr H208Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - ZNF534 His221Tyr H221Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 3 - 1 - - ZNF536 Val994Met V994M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF536 Tyr1271Cys Y1271C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ZNF540 Ser103Arg S103R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.057 - - 3 - 1 - 1 - - ZNF541 Glu721Lys E721K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ZNF541 Pro290Ser P290S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - ZNF541 Pro250Leu P250L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 7 Y 0 N - - ZNF544 Gly386Val G386V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - ZNF546 Glu522Asp E522D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - ZNF546 Cys527Arg C527R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF546 Thr653Met T653M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - ZNF546 Thr821Ile T821I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.936 - - 3 - 2 N - - ZNF547 Ser134Pro S134P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - ZNF549 Lys551Arg K551R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736505 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF550 Leu210Phe L210F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF554 Ser172Asn S172N not reviewed Insufficiently evaluated not reviewed unknown Array 44 9652 0.00455864 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - ZNF555 His129Tyr H129Y not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - ZNF556 Thr14Met T14M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF556 Cys289Arg C289R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ZNF559 Gly237Arg G237R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 6 Y 2 N - - ZNF560 Lys272Arg K272R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.563 - - -3 - 1 N - - ZNF561 Lys284Arg K284R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF561 Asn144Ser N144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF563 Arg213His R213H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - ZNF567 Lys48Thr K48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF567 Lys276Glu K276E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF569 Glu61Gly E61G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 2 N - - ZNF57 Gly187Arg G187R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742111 255 10758 0.0237033 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 1 - - ZNF57 Lys287Arg K287R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.553 - - -3 - 1 N - - ZNF571 Lys593Glu K593E not reviewed Insufficiently evaluated not reviewed unknown Array rs16973890 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 3 - 3 - - ZNF571 Pro390Ser P390S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZNF571 Cys281Gly C281G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF573 Tyr312Cys Y312C not reviewed Insufficiently evaluated not reviewed unknown Array 115 10756 0.0106917 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF574 Val209Leu V209L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - ZNF574 Leu212Pro L212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.26 - - 7 Y 1 N - - ZNF577 Ile62Val I62V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF577 Leu23Ser L23S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 6 Y 0 N - - ZNF578 Asn81Ser N81S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF578 Arg141Gln R141Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF578 Ile263Thr I263T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745577 303 10740 0.0282123 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF578 Gly517Arg G517R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF581 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ZNF584 Val235Ile V235I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.611 - - -4 - 1 N - - ZNF585B Arg318Ser R318S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 3 - 1 N - - ZNF587 Arg8His R8H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - ZNF592 Val299Ala V299A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF592 Ala1105Thr A1105T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF594 Gln25Arg Q25R not reviewed Insufficiently evaluated not reviewed unknown Array 101 9588 0.010534 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - ZNF596 Asp25Asn D25N not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF597 Asn139Ser N139S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - ZNF598 His738Tyr H738Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF598 Thr283Lys T283K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF598 Thr255Arg T255R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF599 Met554Val M554V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF600 Thr585Met T585M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - ZNF600 Lys359Arg K359R not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.848 - - -3 - 1 N - - ZNF600 Cys332Phe C332F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ZNF600 Cys251Tyr C251Y not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF605 Asp565Asn D565N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - ZNF605 His87Arg H87R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 2 N - - ZNF606 His300Arg H300R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 1 - 1 N - - ZNF606 Leu113Met L113M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -3 - 0 N - - ZNF607 Ile6Val I6V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF609 Pro219Thr P219T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF610 His174Tyr H174Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 10750 0.00362791 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - ZNF614 Cys401Arg C401R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF614 His115Leu H115L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - ZNF614 Asn94Ser N94S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 0 - 1 N - - ZNF615 Lys429Asn K429N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ZNF615 His198Tyr H198Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - ZNF616 Tyr80Cys Y80C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF619 Val27Gly V27G not reviewed Insufficiently evaluated not reviewed unknown Array 441 10758 0.0409927 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ZNF621 Ser395Pro S395P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - ZNF622 His330Tyr H330Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZNF622 Lys125Asn K125N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.769 - - 1 - 1 N - - ZNF625 Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.145 - - 0 - 0 N - - ZNF628 Thr859Ser T859S not reviewed Insufficiently evaluated not reviewed unknown Array 184 10752 0.0171131 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF630 Gln282Glu Q282E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.645 - - -2 - 1 N - - ZNF638 Glu349Gly E349G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ZNF638 Ile545Val I545V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF638 Ser1976Gly S1976G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 2 - 2 N - - ZNF644 Ile1004Met I1004M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - ZNF644 Asn780Ser N780S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF645 Ile180Asn I180N not reviewed Insufficiently evaluated not reviewed unknown Array 38 8761 0.0043374 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 0 N - - ZNF646 Gly525Arg G525R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF646 Glu591Val E591V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF646 Ala817Pro A817P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF648 Val163Ala V163A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - ZNF649 Arg457Trp R457W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.832 - - 7 Y 1 N - - ZNF652 Asp429Gly D429G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.107 - - 4 Y 0 N - - ZNF653 Gly385Ser G385S not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF654 Ser580Asn S580N not reviewed Insufficiently evaluated not reviewed unknown Array 104 9502 0.0109451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - ZNF662 Glu195Gly E195G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ZNF662 Glu221Gly E221G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF665 Lys484Arg K484R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - -3 - 2 N - - ZNF669 Ile156Val I156V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF669 Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - ZNF670 His219Arg H219R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - ZNF671 Arg361Gln R361Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF671 Arg25Ser R25S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF673 Pro74Ser P74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - ZNF677 Gly254Glu G254E not reviewed Insufficiently evaluated not reviewed unknown Array rs10425706 509 10758 0.0473136 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.057 - - 6 Y 0 N - - ZNF677 Asp56Asn D56N not reviewed Insufficiently evaluated not reviewed unknown Array rs11881131 180 10758 0.0167317 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 1 - 2 - - ZNF679 Gly56Asp G56D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - ZNF679 Thr338Ile T338I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - ZNF681 Tyr103His Y103H not reviewed Insufficiently evaluated not reviewed unknown Array 149 10752 0.0138579 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.048 - - -1 - 1 - 1 - - ZNF681 Val76Gly V76G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF683 Cys383Arg C383R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF683 Ala210Val A210V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - ZNF683 Asp95Glu D95E not reviewed Insufficiently evaluated not reviewed unknown Array 361 10756 0.0335627 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - ZNF687 Gly116Arg G116R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ZNF687 Ser1001Pro S1001P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.713 - - 3 - 1 N - - ZNF687 Leu1142Phe L1142F not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.455 - - 0 - 1 N - - ZNF688 Ser117Ile S117I not reviewed Insufficiently evaluated not reviewed unknown Array rs33997546 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - ZNF688 Ser131Ile S131I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - ZNF692 Thr152Met T152M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - ZNF692 Thr157Met T157M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF7 Val578Ala V578A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - ZNF70 Gln23Lys Q23K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - ZNF700 Ser235Asn S235N not reviewed Insufficiently evaluated not reviewed unknown Array 259 10756 0.0240796 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF700 His460Tyr H460Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - -1 - 1 N - - ZNF708 Gly286Ser G286S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10744 0.00483991 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 2 - 0 N - - ZNF708 Met77Ile M77I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - ZNF710 Met234Leu M234L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10678 9.365e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.407 - - -3 - 1 N - - ZNF710 Glu629Asp E629D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - ZNF713 Tyr52Cys Y52C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.914 - - 6 Y 2 N - - ZNF713 Cys303Arg C303R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF717 Thr807Ser T807S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF717 Leu696His L696H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Arg471Ile R471I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF717 Trp36Stop W36X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF720 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF721 Val322Leu V322L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF727 Arg119His R119H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF735 Phe222Leu F222L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF746 Val239Ala V239A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - 2 - 1 N - - ZNF746 Glu217Ala E217A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 3 - 3 - 1 - - ZNF747 Arg153Stop R153X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF749 Ala405Thr A405T not reviewed Insufficiently evaluated not reviewed unknown Array rs2240038 430 10758 0.0399703 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - ZNF750 Val478Ile V478I not reviewed Insufficiently evaluated not reviewed unknown Array 346 10758 0.0321621 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - ZNF75A Phe245Leu F245L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ZNF763 Asp110Glu D110E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF763 Arg325His R325H not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - ZNF763 Tyr327His Y327H not reviewed Insufficiently evaluated not reviewed unknown Array rs7254529 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 1 - 4 - - ZNF763 Thr338Met T338M not reviewed Insufficiently evaluated not reviewed unknown Array rs7250795 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ZNF763 Arg359Gly R359G not reviewed Insufficiently evaluated not reviewed unknown Array rs7250894 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ZNF765 Ile49Thr I49T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10648 0.0006574 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF765 Ser254Pro S254P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF766 Asn134Ser N134S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 1 N - - ZNF77 Ser505Leu S505L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.815 - - 6 Y 1 N - - ZNF77 Gln106Lys Q106K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - -2 - 0 N - - ZNF770 Val684Ala V684A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.059 - - 2 - 0 N - - ZNF776 His80Tyr H80Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF776 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF778 Ser714Leu S714L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF780B Ala409Thr A409T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF782 Thr210Ser T210S not reviewed Insufficiently evaluated not reviewed unknown Array rs34073647 258 10750 0.024 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - -2 - 2 N - - ZNF782 His122Arg H122R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNF782 Glu20Asp E20D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741746 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.895 - - -2 - 2 N - - ZNF790 Thr486Ser T486S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.194 - - -2 - 1 - 3 - - ZNF80 Arg66Stop R66X not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF80 Gly11Asp G11D not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF800 Thr67Ala T67A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ZNF804A Glu866Gly E866G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF804A Glu1050Gly E1050G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF804B Asp305Gly D305G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF805 Tyr63Cys Y63C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF808 Ser888Leu S888L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF81 Leu184Val L184V not reviewed Insufficiently evaluated not reviewed unknown Array 15 7551 0.00198649 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF813 Lys325Arg K325R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - -3 - 1 N - - ZNF814 Leu257Phe L257F not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF816A Leu524Val L524V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF821 Ile181Thr I181T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF831 Pro1055Leu P1055L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10286 0.00418044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - ZNF839 Gly630Val G630V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF839 Pro647Ser P647S not reviewed Insufficiently evaluated not reviewed unknown Array rs9464 930 10148 0.0916437 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF839 Phe847Leu F847L not reviewed Insufficiently evaluated not reviewed unknown Array rs1053019 904 9950 0.0908543 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF84 Leu144Pro L144P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF84 Asp183Gly D183G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF84 Asn322Ser N322S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF841 Arg912Met R912M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF845 Met210Thr M210T not reviewed Insufficiently evaluated not reviewed unknown Array 18 3234 0.00556586 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF845 Val427Ile V427I not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF85 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF85 Cys263Tyr C263Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF85 Glu513Ala E513A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF862 Thr1101Ala T1101A not reviewed Insufficiently evaluated not reviewed unknown Array 174 10478 0.0166062 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNFX1 Arg1517His R1517H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.204 - - 1 - 1 N - - ZNFX1 Arg1488Gln R1488Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - ZNFX1 His871Gln H871Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - ZNHIT6 Glu102Gly E102G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNHIT6 Arg67Lys R67K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNRD1 Gln14His Q14H not reviewed Insufficiently evaluated not reviewed unknown Array rs17187658 144 7518 0.019154 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.441 - - -1 - 2 - 2 - - ZNRF4 Ser108Leu S108L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10446 9.573e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 1 - 1 - - ZNRF4 Val251Met V251M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10616 0.000753579 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ZP2 Ser743Leu S743L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 1 - 1 - - ZP4 Ser205Leu S205L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 6 Y 1 - 1 - - ZPBP2 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - ZRANB2 Thr50Ala T50A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - ZRANB3 Asn659Ser N659S not reviewed Insufficiently evaluated not reviewed unknown Array 19 8620 0.00220418 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZRANB3 Ala613Ser A613S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9898 0.000505152 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZSCAN10 Thr213Asn T213N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10334 0.000193535 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 1 - 1 N - - ZSCAN10 Gln130Arg Q130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ZSCAN10 Gln102His Q102H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - ZSCAN12 Arg565Gly R565G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZSCAN16 Gln173Arg Q173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - ZSCAN16 His254Gln H254Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - ZSCAN18 Trp108Cys W108C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZSCAN18 Trp164Cys W164C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZSCAN20 Glu907Lys E907K not reviewed Insufficiently evaluated not reviewed unknown Array 96 10482 0.00915856 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZSCAN21 Thr467Asn T467N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - ZSCAN5A His180Arg H180R not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZSCAN5A Pro18Ser P18S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - ZSCAN5B Leu281Ser L281S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZSCAN5B His173Arg H173R not reviewed Insufficiently evaluated not reviewed unknown Array 326 10758 0.030303 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZSWIM2 Leu588Pro L588P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZSWIM2 Pro392Thr P392T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZSWIM2 Asp297Asn D297N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10738 0.000838144 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZSWIM2 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 492 10758 0.0457334 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZUFSP Pro294Thr P294T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 4 Y 2 N - - ZUFSP Val228Leu V228L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZUFSP Cys159Gly C159G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZW10 Leu310Val L310V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZW10 Met281Lys M281K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - ZXDC Cys787Arg C787R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - ZYG11A Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array 37 3234 0.0114409 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZYG11A Met343Val M343V not reviewed Insufficiently evaluated not reviewed unknown Array 31 3234 0.00958565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ZYX Gly27Asp G27D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 6 - - ZYX Pro390Leu P390L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 7 Y 1 N - - ZZEF1 Arg2909Leu R2909L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZZEF1 His2841Tyr H2841Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZZEF1 Val959Ala V959A not reviewed Insufficiently evaluated not reviewed unknown Array 595 10758 0.0553077 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZZEF1 Asn351Ser N351S not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZZZ3 Ile565Thr I565T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - PCSK9 Gly670Gly G670G benign Insufficiently evaluated benign unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -9 - 2 N - - This is a relatively rare variant that is most likely benign. IL3RA Ala132Thr A132T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 0 0 0 1 0 - - - - - - - - - - - - - - - - 0.087 - - 1 - 0 N - - IL3RA Trp226Stop W226X not reviewed Insufficiently evaluated not reviewed unknown Array 25 10750 0.00232558 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IL3RA Arg234Gly R234G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - A3GALT2 Ser49Leu S49L not reviewed Insufficiently evaluated not reviewed unknown Array rs72889865 45 10072 0.00446783 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AATK Thr1330Met T1330M not reviewed Insufficiently evaluated not reviewed unknown Array rs8082016 722 9948 0.0725774 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.722 - - 2 - 1 - 3 - - ABCA13 Lys886Asn K886N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA13 Glu2430Lys E2430K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Phe4717Cys F4717C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA13 Pro4733Leu P4733L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCB10 Leu84Pro L84P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCB11 Met677Val M677V not reviewed Insufficiently evaluated not reviewed unknown Array rs11568364 637 9760 0.0652664 12 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 - 1 - - ABCB5 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - ABCC11 Arg144Gln R144Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.476 - - 0 - 1 N - - ABCC4 Gly187Trp G187W pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11568658 181 10758 0.0168247 4 0 4 1 1 - - - - - - - - - - - - - - - Y - - - 7 Y 3 N 9 - - ABCC6 Arg1064Trp R1064W not reviewed Insufficiently evaluated not reviewed unknown Array rs41278174 194 10758 0.0180331 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ABCC6 Arg265Gly R265G not reviewed Insufficiently evaluated not reviewed unknown Array rs72657698 102 10758 0.00948132 8 0 9 1 1 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 2 - - ABI3BP Ser748Pro S748P not reviewed Insufficiently evaluated not reviewed unknown Array 76 9678 0.00785286 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABLIM3 Arg86Gln R86Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ACAA2 Met217Val M217V not reviewed Insufficiently evaluated not reviewed unknown Array rs11549285 172 10758 0.0159881 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 7 - - ACADVL Gly43Asp G43D not reviewed Insufficiently evaluated not reviewed unknown Array rs2230178 82 7068 0.0116016 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ACAN Pro913Thr P913T not reviewed Insufficiently evaluated not reviewed unknown Array rs35430524 729 9984 0.0730168 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 1 - - ACE Ser660Cys S660C not reviewed Insufficiently evaluated not reviewed unknown Array rs61758679 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - 3 - 2 - 10 - - ACE Ser86Cys S86C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 10 - - ACSM4 Arg481His R481H not reviewed Insufficiently evaluated not reviewed unknown Array rs61584783 323 10068 0.0320818 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 1 - - ACTN1 Pro861Leu P861L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACTN1 Pro866Leu P866L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.444 - - 7 Y 1 N - - ACTN1 Pro888Leu P888L not reviewed Insufficiently evaluated not reviewed unknown Array rs77499007 200 10756 0.0185943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS13 Ala1002Thr A1002T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ADAMTS13 Ala1033Thr A1033T not reviewed Insufficiently evaluated not reviewed unknown Array rs28503257 306 10758 0.0284439 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.712 Y - 1 - 3 - 7 - - ADAMTSL1 Ala1014Val A1014V not reviewed Insufficiently evaluated not reviewed unknown Array 317 9438 0.0335876 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTSL2 Gly421Ser G421S not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 2 - 1 N - - ADAMTSL2 Ser705Arg S705R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.707 - Y 3 - 2 N - - ADCY9 Lys564Gln K564Q not reviewed Insufficiently evaluated not reviewed unknown Array rs52791170 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - -2 - 0 N - - ADRA2B Gly211Ala G211A not reviewed Insufficiently evaluated not reviewed unknown Array rs9333568 398 10154 0.0391964 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - AGAP2 Ala1169Thr A1169T not reviewed Insufficiently evaluated not reviewed unknown Array 63 5074 0.0124162 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - AGAP2 Ala813Thr A813T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGBL1 Val162Met V162M not reviewed Insufficiently evaluated not reviewed unknown Array 103 10592 0.00972432 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 1 N - - AGBL1 Ser405Tyr S405Y not reviewed Insufficiently evaluated not reviewed unknown Array 32 9790 0.00326864 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 1 N - - AGBL1 Gly971Ser G971S not reviewed Insufficiently evaluated not reviewed unknown Array rs73459659 469 9700 0.0483505 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGBL4 Ser180Asn S180N not reviewed Insufficiently evaluated not reviewed unknown Array rs72895659 94 9884 0.00951032 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGRN Gly510Ser G510S not reviewed Insufficiently evaluated not reviewed unknown Array 99 10730 0.00922647 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.674 Y - 2 - 2 N - - AHI1 Thr1055Met T1055M not reviewed Insufficiently evaluated not reviewed unknown Array rs73559947 11 9628 0.0011425 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - AHNAK2 Pro4306Leu P4306L not reviewed Insufficiently evaluated not reviewed unknown Array rs10148785 66 9982 0.0066119 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - AHNAK2 Met2187Val M2187V not reviewed Insufficiently evaluated not reviewed unknown Array rs10134675 2843 9822 0.289452 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - AHNAK2 Ala2015Pro A2015P not reviewed Insufficiently evaluated not reviewed unknown Array 4054 9710 0.417508 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.325 - - 2 - 0 N - - AHNAK2 Pro2014Ser P2014S not reviewed Insufficiently evaluated not reviewed unknown Array 4261 9718 0.438465 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - AHNAK2 Pro1860Ser P1860S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9844 0.00345388 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHNAK2 Glu1641Gln E1641Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73357566 92 9744 0.00944171 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK2 Glu1513Gln E1513Q not reviewed Insufficiently evaluated not reviewed unknown Array 344 9624 0.035744 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.138 - - -2 - 0 N - - AHSA1 Val133Ala V133A not reviewed Insufficiently evaluated not reviewed unknown Array rs61755658 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - AK1 Glu123Gln E123Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8192462 280 10754 0.0260368 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 1 - 8 - - AKAP10 Ile44Thr I44T not reviewed Insufficiently evaluated not reviewed unknown Array rs73296056 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP2 Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKD1 Glu703Ala E703A not reviewed Insufficiently evaluated not reviewed unknown Array 12 2618 0.00458365 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALG2 Val367Ala V367A not reviewed Insufficiently evaluated not reviewed unknown Array rs35626507 607 10758 0.0564231 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 - 1 - - ALG2 Ser11Pro S11P not reviewed Insufficiently evaluated not reviewed unknown Array rs11545137 529 10652 0.049662 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 3 - - ALKBH8 Arg571Lys R571K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748874 15 3234 0.00463822 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ALPPL2 Pro228Arg P228R not reviewed Insufficiently evaluated not reviewed unknown Array rs75920311 82 10740 0.00763501 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.224 - - 5 Y 1 N - - AMAC1L2 Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 1 - 1 N - - AMAC1L3 Val305Ala V305A not reviewed Insufficiently evaluated not reviewed unknown Array 602 10758 0.0559584 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.802 - - 2 - 0 N - - ANAPC5 Arg46Leu R46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ANGPT4 Glu395Lys E395K not reviewed Insufficiently evaluated not reviewed unknown Array rs869171 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 0 - 2 - 4 - - ANK2 Ser3300Arg S3300R not reviewed Insufficiently evaluated not reviewed unknown Array rs34270799 238 10758 0.0221231 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 3 - 3 - - ANKK1 Cys52Trp C52W not reviewed Insufficiently evaluated not reviewed unknown Array 127 9314 0.0136354 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ANKK1 Arg445Cys R445C not reviewed Insufficiently evaluated not reviewed unknown Array 183 10480 0.0174618 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ANKLE1 Pro160Ser P160S not reviewed Insufficiently evaluated not reviewed unknown Array rs59119993 117 10758 0.0108756 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ANKRD24 Ala66Thr A66T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743270 156 10148 0.0153725 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - ANKRD24 Gly558Arg G558R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738959 152 10152 0.0149724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 3 - 1 - - ANKRD30B Val375Met V375M not reviewed Insufficiently evaluated not reviewed unknown Array 39 3234 0.0120594 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 1 - 2 - - ANKRD30B Leu953Pro L953P not reviewed Insufficiently evaluated not reviewed unknown Array 57 3224 0.0176799 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANTXR2 Arg111Cys R111C not reviewed Insufficiently evaluated not reviewed unknown Array rs61741646 96 9452 0.0101566 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.937 - Y 8 Y 3 N - - AOC2 Ile5Val I5V not reviewed Insufficiently evaluated not reviewed unknown Array rs34230945 229 10758 0.0212865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 9 - - APOB48R Glu299Ala E299A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APOL1 Val335Glu V335E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOL1 Val353Glu V353E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOL1 Val369Glu V369E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APPL1 Glu700Gly E700G not reviewed Insufficiently evaluated not reviewed unknown Array rs11544593 1340 10758 0.124558 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.249 - - 6 Y 0 N - - ARHGEF2 Leu835Pro L835P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARID3C Arg386His R386H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ARL6IP4 Pro115Leu P115L not reviewed Insufficiently evaluated not reviewed unknown Array 50 1650 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARL9 Pro11His P11H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732254 29 9928 0.00292103 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 3 - 1 - - ARMC2 Ile630Val I630V not reviewed Insufficiently evaluated not reviewed unknown Array 318 10732 0.029631 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARNT Asp496Asn D496N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 2 - - ARNT Asp511Asn D511N not reviewed Insufficiently evaluated not reviewed unknown Array rs1805133 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 1 - 9 - - ARPP-21 Met269Ile M269I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARRDC5 Ile53Thr I53T not reviewed Insufficiently evaluated not reviewed unknown Array rs8104713 104 9732 0.0106864 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASB10 Arg357Cys R357C not reviewed Insufficiently evaluated not reviewed unknown Array rs62489646 213 3234 0.0658627 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ASB10 Arg417Cys R417C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ASB18 Arg429Cys R429C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ASB2 Thr132Lys T132K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - ASCC3 Arg950Gln R950Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.784 - - 0 - 1 N - - ASMTL Cys524Ser C524S not reviewed Insufficiently evaluated not reviewed unknown Array 171 10132 0.0168772 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.305 - - 3 - 1 N - - ASTN2 Gly740Asp G740D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASTN2 Gly787Asp G787D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASTN2 Gly791Asp G791D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - 4 Y 2 N - - ATF6B Leu695Ile L695I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATF6B Leu698Ile L698I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - ATG4B Val187Ile V187I not reviewed Insufficiently evaluated not reviewed unknown Array rs35613684 51 10460 0.00487572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATG9B Gly8Glu G8E not reviewed Insufficiently evaluated not reviewed unknown Array rs73472577 81 8504 0.00952493 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATP13A2 Arg289Gln R289Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ATP13A2 Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56367069 129 10714 0.0120403 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.044 Y - 0 - 1 N - - ATP1A4 Glu297Lys E297K not reviewed Insufficiently evaluated not reviewed unknown Array rs17368402 893 10758 0.083008 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATP5SL His23Arg H23R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231939 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 1 - 2 - - ATP6V1D Arg182Cys R182C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.155 - - 8 Y 0 N - - AURKAIP1 Lys199Arg K199R not reviewed Insufficiently evaluated not reviewed unknown Array 404 10750 0.0375814 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.935 - - -3 - 2 N - - AXIN2 Ala758Thr A758T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AZI1 Glu661Lys E661K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741549 185 10756 0.0171997 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAHCC1 Gly1191Arg G1191R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - BCHE Gly418Val G418V pharmacogenetic High clinical importance, pharmacogenetic recessive Array rs28933390 39 10758 0.00362521 1 0 1 1 1 3 Y - - 5 Y - - 3 Y 5 Y - - - - 0.941 - - 8 Y 3 - 9 2 2 This is the "flu-2" variant of BCHE and can cause prolonged post-succinylcholine apnea (an adverse side-effect of prolonged response to anesthesia) when homozygous or compound heterozygous with other deleterious BCHE variants. BDP1 Asn2555Ser N2555S not reviewed Insufficiently evaluated not reviewed unknown Array rs17276250 266 9514 0.0279588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 1 - 2 - - BEND4 Met363Leu M363L not reviewed Insufficiently evaluated not reviewed unknown Array rs73153401 35 9880 0.00354251 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BHLHE41 Ala428Thr A428T not reviewed Insufficiently evaluated not reviewed unknown Array 37 1270 0.0291339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - BIRC6 Gln1343Leu Q1343L not reviewed Insufficiently evaluated not reviewed unknown Array rs72867263 112 10758 0.0104109 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BIRC6 Pro1735Ala P1735A not reviewed Insufficiently evaluated not reviewed unknown Array rs34906338 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BIRC6 Ala3640Thr A3640T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BOD1L Val2944Met V2944M not reviewed Insufficiently evaluated not reviewed unknown Array rs28538279 256 10758 0.0237962 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 1 - 1 - - BOD1L Pro2396Leu P2396L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733557 1172 10758 0.108942 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BRD8 Cys972Ser C972S not reviewed Insufficiently evaluated not reviewed unknown Array 259 10758 0.0240751 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.814 - - 3 - 1 N - - BTBD1 Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array 93 9376 0.00991894 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF27 Thr344Arg T344R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF35 Glu155Lys E155K not reviewed Insufficiently evaluated not reviewed unknown Array rs73403418 28 10750 0.00260465 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF18 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array rs73480004 144 10758 0.0133854 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF135 Ala788Thr A788T not reviewed Insufficiently evaluated not reviewed unknown Array rs61529312 40 10756 0.00371885 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF153 Val16Ala V16A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF169 Leu32Met L32M not reviewed Insufficiently evaluated not reviewed unknown Array rs73293424 110 9818 0.0112039 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C14ORF169 Arg127Cys R127C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF39 Glu462Asp E462D not reviewed Insufficiently evaluated not reviewed unknown Array 35 10732 0.00326127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF80 Pro24Leu P24L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF80 Pro65Leu P65L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C15ORF42 Arg1628His R1628H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF62 Arg680Trp R680W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF7 Asp377Asn D377N not reviewed Insufficiently evaluated not reviewed unknown Array 174 9886 0.0176006 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF79 Pro214Ser P214S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF70 Asp284Asn D284N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C17ORF70 Asp435Asn D435N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C18ORF34 Arg720Leu R720L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C18ORF34 Arg758Leu R758L not reviewed Insufficiently evaluated not reviewed unknown Array rs62090751 19 10716 0.00177305 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C18ORF51 Arg179His R179H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF51 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF22 Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF50 Ser130Asn S130N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF55 Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array rs73592448 785 9644 0.0813978 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C19ORF57 Asp491Glu D491E not reviewed Insufficiently evaluated not reviewed unknown Array rs61732721 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF114 Arg395Gln R395Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF14 Ser18Arg S18R not reviewed Insufficiently evaluated not reviewed unknown Array 265 9498 0.0279006 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF157 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array rs73067708 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF228 Gly189Arg G189R not reviewed Insufficiently evaluated not reviewed unknown Array 22 3234 0.00680272 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF74 Glu189Gly E189G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF30 Glu1316Lys E1316K not reviewed Insufficiently evaluated not reviewed unknown Array rs61461793 25 3234 0.00773036 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF16 Asn112His N112H not reviewed Insufficiently evaluated not reviewed unknown Array 98 9610 0.0101977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF24 Ser223Phe S223F not reviewed Insufficiently evaluated not reviewed unknown Array rs73074979 13 10750 0.0012093 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF37 Tyr476His Y476H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF42 Gln512His Q512H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF49 Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array 146 10756 0.0135738 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF66 Ala102Ser A102S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF66 Ser101Thr S101T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C2ORF71 Lys421Arg K421R not reviewed Insufficiently evaluated not reviewed unknown Array rs17007544 423 10084 0.0419476 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - C3ORF33 Ser62Leu S62L not reviewed Insufficiently evaluated not reviewed unknown Array rs73021523 245 9418 0.026014 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF4 Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array rs17641488 648 10006 0.0647611 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - C6ORF103 Ala353Pro A353P not reviewed Insufficiently evaluated not reviewed unknown Array rs73571870 56 3234 0.017316 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF118 Lys391Asn K391N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF165 Gly170Ala G170A not reviewed Insufficiently evaluated not reviewed unknown Array rs16879281 1154 10758 0.107269 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - C6ORF165 Ala407Glu A407E not reviewed Insufficiently evaluated not reviewed unknown Array 293 10758 0.0272355 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF44 Arg70Stop R70X not reviewed Insufficiently evaluated not reviewed unknown Array rs10096544 503 10708 0.0469742 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - C9ORF102 Pro7Ser P7S not reviewed Insufficiently evaluated not reviewed unknown Array rs56108623 668 10548 0.0633295 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CABLES2 Arg404His R404H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CACNA1H Ala1059Ser A1059S not reviewed Insufficiently evaluated not reviewed unknown Array rs41292285 78 10058 0.00775502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - CACNA2D1 Asp1045Ala D1045A not reviewed Insufficiently evaluated not reviewed unknown Array rs35131433 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - CALHM3 Leu270Pro L270P not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CARD6 Ser86Leu S86L not reviewed Insufficiently evaluated not reviewed unknown Array rs10512747 952 10758 0.0884923 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CASC4 Lys346Asn K346N not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 1 - 1 N - - CASKIN2 Leu583His L583H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASKIN2 Leu665His L665H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 6 Y 1 N - - CC2D1A Ala189Val A189V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740117 78 10144 0.00768927 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 1 - 1 - - CCDC105 Arg274Ser R274S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC114 Arg329His R329H not reviewed Insufficiently evaluated not reviewed unknown Array 287 10758 0.0266778 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 1 - 4 - - CCDC13 Asp55Gly D55G not reviewed Insufficiently evaluated not reviewed unknown Array rs34234072 75 10758 0.00697156 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 0 N - - CCDC14 Arg454Gln R454Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72964825 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC146 Asp40Asn D40N not reviewed Insufficiently evaluated not reviewed unknown Array 840 10748 0.0781541 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - CCDC153 Lys11Glu K11E not reviewed Insufficiently evaluated not reviewed unknown Array 52 3234 0.0160792 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - CCDC39 Arg294Gly R294G not reviewed Insufficiently evaluated not reviewed unknown Array rs61733577 18 9528 0.00188917 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 3 - 1 - - CCDC88B Ala960Val A960V not reviewed Insufficiently evaluated not reviewed unknown Array 24 8696 0.00275989 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCHCR1 Ala367Thr A367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CCHCR1 Ala420Thr A420T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - CCHCR1 Ala456Thr A456T not reviewed Insufficiently evaluated not reviewed unknown Array rs2027937 493 7522 0.0655411 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 3 - - CD177 His31Leu H31L not reviewed Insufficiently evaluated not reviewed unknown Array rs45553433 424 10374 0.0408714 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD177 Phe208Val F208V not reviewed Insufficiently evaluated not reviewed unknown Array rs73559882 64 9890 0.00647118 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD1A Gly240Asp G240D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD207 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72911708 175 9874 0.0177233 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - CD40LG Gly219Arg G219R pathogenic Low clinical importance, Uncertain pathogenic recessive Array 100 8761 0.0114142 2 0 2 1 1 1 Y 1 Y 0 Y 2 Y 4 - 4 - Y - - - 0.234 Y Y 6 Y 4 - 2 0 0 Study of a single family with X-linked immunodeficiency implicated this variant as causal when combined with XIAP-G466X. The authors' hypothesis is that either variant alone has much less effect, if any. Because 2% of males carry this variant, it is very unlikely that the variant alone has any severe effect. CDK6 Ser317Cys S317C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.119 - - 3 - 0 N - - CDRT1 Ala245Gly A245G not reviewed Insufficiently evaluated not reviewed unknown Array rs3809727 1324 10250 0.129171 24 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CDRT1 Glu236Lys E236K not reviewed Insufficiently evaluated not reviewed unknown Array rs113130850 11 62 0.177419 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEACAM16 Pro35Ser P35S not reviewed Insufficiently evaluated not reviewed unknown Array rs3948201 124 5002 0.0247901 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CEACAM20 Gly404Glu G404E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM20 Gly497Glu G497E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CECR2 Ala334Pro A334P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CELA3A His31Asn H31N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CELSR1 Arg2219His R2219H not reviewed Insufficiently evaluated not reviewed unknown Array rs34267201 495 10742 0.0460808 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 1 - 2 - - CEP110 Ala750Pro A750P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 1 - 2 - - CEP135 Arg112His R112H not reviewed Insufficiently evaluated not reviewed unknown Array 323 10758 0.0300242 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP135 Ser640Leu S640L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEP250 Lys869Asn K869N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP250 Lys925Asn K925N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - 1 - 1 N - - CEP250 Arg1904Gln R1904Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP250 Arg1960Gln R1960Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56259282 85 10710 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - CEP350 Thr1088Ile T1088I not reviewed Insufficiently evaluated not reviewed unknown Array rs73034403 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CFHR1 Leu159Val L159V not reviewed Insufficiently evaluated not reviewed unknown Array rs410232 2798 9724 0.287742 18 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - CFHR1 Gln242Glu Q242E not reviewed Insufficiently evaluated not reviewed unknown Array 279 9838 0.0283594 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - CGREF1 Gly260Glu G260E not reviewed Insufficiently evaluated not reviewed unknown Array 2 8902 0.000224668 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHMP1A Arg163Stop R163X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CHST8 Arg77Trp R77W benign Low clinical importance, Likely benign recessive Array 51 10748 0.00474507 1 0 1 0 0 - - - - 5 - - - - - - - - - - - 0.961 - - 7 Y 3 - 2 0 1 Hypothesized by Cabral et al 2012 (PMID: 22289416) to cause peeling skin syndrome, in a recessive manner. The authors report not seeing this variant in 200 Pakistani controls, but ExAC data finds it carried by 1 in 85 with south asian ancestry. This relatively high allele frequency contradicts the variant having the hypothesized high penetrance effect. CLCNKA Pro612Ala P612A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 2 - 1 N - - CLRN2 Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array rs2597791 643 10114 0.0635752 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - CLSTN2 Ile331Thr I331T not reviewed Insufficiently evaluated not reviewed unknown Array rs17348572 447 10758 0.0415505 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 1 - 10 - - CLTCL1 Ala105Thr A105T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CMYA5 Gly2685Cys G2685C not reviewed Insufficiently evaluated not reviewed unknown Array rs62620747 154 9606 0.0160316 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNBD1 Met257Val M257V not reviewed Insufficiently evaluated not reviewed unknown Array rs60556175 34 9590 0.00354536 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.773 - - 0 - 2 - 1 - - CNOT1 Arg299Gln R299Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34830321 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - CNTROB Asn539Tyr N539Y not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.44 - - 5 Y 1 N - - COBL Pro526Leu P526L not reviewed Insufficiently evaluated not reviewed unknown Array rs17656599 967 10758 0.0898866 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 1 N - - COL17A1 Gln787His Q787H not reviewed Insufficiently evaluated not reviewed unknown Array rs73329731 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL18A1 Ala288Thr A288T not reviewed Insufficiently evaluated not reviewed unknown Array 809 3234 0.250155 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - 1 - 1 N - - COL18A1 Pro1121Arg P1121R not reviewed Insufficiently evaluated not reviewed unknown Array 573 9724 0.0589264 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - COL18A1 Pro706Arg P706R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 3 - 10 - - COL18A1 Pro886Arg P886R not reviewed Insufficiently evaluated not reviewed unknown Array 3 104 0.0288462 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - COL1A1 Pro205Ala P205A not reviewed Insufficiently evaluated not reviewed unknown Array rs72667032 44 10754 0.0040915 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL29A1 Ile1882Val I1882V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COL29A1 Asp2175Asn D2175N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - COL6A2 Glu106Lys E106K not reviewed Insufficiently evaluated not reviewed undefined Array 78 10758 0.00725042 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.907 Y Y 0 - 5 - 1 - - COL6A6 Ser1708Phe S1708F not reviewed Insufficiently evaluated not reviewed unknown Array rs61629992 522 9420 0.055414 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.911 - - 5 Y 1 N - - COQ9 Ser63Cys S63C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - 3 - 1 N - - CP Ala406Glu A406E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 3 - 2 - 7 - - CP110 Ser126Arg S126R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPXM2 Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 108 6650 0.0162406 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CREB3 Arg119Gly R119G not reviewed Insufficiently evaluated not reviewed unknown Array rs11538707 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - CRNN Ile330Thr I330T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CROCC Arg1030Trp R1030W not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CROCC Glu1037Gln E1037Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - -2 - 2 N - - CSAD Leu34His L34H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSF2RA Asn329Asp N329D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSF2RA Ser337Pro S337P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSF2RA Leu340Phe L340F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSF2RA Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSGLCA-T Pro640Leu P640L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD1 Ser1180Ala S1180A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTNND2 Asp700Gly D700G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - 4 Y 1 N - - CTNS Val393Ile V393I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CXORF30 Ser33Asn S33N not reviewed Insufficiently evaluated not reviewed unknown Array rs16987461 93 2482 0.0374698 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CXORF64 Met193Thr M193T not reviewed Insufficiently evaluated not reviewed unknown Array rs4289953 150 2482 0.0604351 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - CXXC5 Arg150Gln R150Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.388 - - 0 - 1 N - - CYB561D1 Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYC1 Met76Thr M76T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10754 0.00362656 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP27A1 Pro384Leu P384L benign Low clinical importance, Uncertain benign unknown Array rs41272687 191 10758 0.0177542 1 0 1 3 3 ! - - - 1 Y - - - - - - Y - - - 0.999 Y Y 7 Y 5 - 2 0 0 Probably not pathogenic. Although predicted to be disruptive and treated by some as pathogenic, reports of this variant in cases were all linked with an upstream frameshift variant -- this supports the variant as a nonpathogenic ancestral polymorphism. CYP2A13 Arg381Trp R381W not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 1 - - CYP2A7 Gln214Arg Q214R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2A7 Gln265Arg Q265R not reviewed Insufficiently evaluated not reviewed unknown Array 1239 10758 0.11517 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CYP3A43 Gln484Lys Q484K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - CYP3A43 Gln485Lys Q485K not reviewed Insufficiently evaluated not reviewed unknown Array 84 10754 0.00781105 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DARC Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 8 - - DARC Arg91Cys R91C not reviewed Insufficiently evaluated not reviewed unknown Array rs34599082 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 3 - - DCBLD1 Lys485Gln K485Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58391332 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 0 N - - DCHS1 Ala559Ser A559S not reviewed Insufficiently evaluated not reviewed unknown Array rs73397261 61 10758 0.0056702 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCHS2 Thr620Ala T620A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCHS2 Ala614Val A614V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCHS2 Gln593Glu Q593E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DCTD Phe166Cys F166C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DCTD Phe177Cys F177C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DDX12 Lys436Glu K436E not reviewed Insufficiently evaluated not reviewed unknown Array 918 3206 0.286338 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - DDX12 Arg263Gln R263Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 40 0.875 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DDX31 Glu153Lys E153K not reviewed Insufficiently evaluated not reviewed unknown Array rs17402080 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 2 - - DENND1C Ala542Val A542V not reviewed Insufficiently evaluated not reviewed unknown Array rs35810378 21 9816 0.00213936 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.693 - - 2 - 2 - 2 - - DGKH Gln7Pro Q7P not reviewed Insufficiently evaluated not reviewed unknown Array 43 5534 0.00777015 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 10 - - DHRS4L1 Leu213Arg L213R not reviewed Insufficiently evaluated not reviewed unknown Array rs57000189 661 10754 0.0614655 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DHX34 Leu946Phe L946F not reviewed Insufficiently evaluated not reviewed unknown Array 278 10758 0.0258412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIRC1 Asp73Glu D73E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DISP1 Phe1325Ser F1325S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.2 - - 5 Y 1 N - - DLG1 Pro899Leu P899L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 3 - 3 - - DLG1 Pro921Leu P921L not reviewed Insufficiently evaluated not reviewed unknown Array rs34492126 384 10758 0.0356944 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - DMBT1 Arg1066Leu R1066L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - DMBT1 Arg1684Leu R1684L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DMBT1 Arg1694Leu R1694L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - DMC1 Gly150Asp G150D not reviewed Insufficiently evaluated not reviewed unknown Array rs58396845 6 10754 0.000557931 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.537 - - 4 Y 2 - 3 - - DNA2 Phe896Leu F896L not reviewed Insufficiently evaluated not reviewed unknown Array rs73274785 81 9698 0.00835224 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH10 Val3346Leu V3346L not reviewed Insufficiently evaluated not reviewed unknown Array 179 10278 0.0174158 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH11 Ile214Val I214V not reviewed Insufficiently evaluated not reviewed unknown Array 50 9652 0.00518027 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - DNAH11 Asp1640Gly D1640G not reviewed Insufficiently evaluated not reviewed unknown Array rs17144835 508 9664 0.0525662 9 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 - 1 - - DNAH12 Met2289Ile M2289I not reviewed Insufficiently evaluated not reviewed unknown Array 19 3234 0.00587508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH12 Arg933His R933H not reviewed Insufficiently evaluated not reviewed unknown Array 19 3234 0.00587508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH14 Gly994Ser G994S not reviewed Insufficiently evaluated not reviewed unknown Array 98 3234 0.030303 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH14 Tyr1392Asp Y1392D not reviewed Insufficiently evaluated not reviewed unknown Array 230 3166 0.0726469 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - DNAH14 Phe3378Leu F3378L not reviewed Insufficiently evaluated not reviewed unknown Array 116 3232 0.0358911 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH14 Ile3662Thr I3662T not reviewed Insufficiently evaluated not reviewed unknown Array 113 3218 0.035115 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH14 Ala4346Val A4346V not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH5 Glu1756Lys E1756K benign Low clinical importance, Uncertain benign unknown Array 39 10758 0.00362521 1 0 1 1 1 0 Y - - 2 Y - - - - - - Y - - - 0.536 Y Y 0 - 4 - 2 0 0 Probably benign. DNAH5 Glu758Gly E758G benign Low clinical importance, Uncertain benign unknown Array 1 118 0.00847458 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.997 Y Y 6 Y 4 N 0 0 Tentatively evaluated as benign, although predicted to be damaging by Polyphen 2. Other recessive mutations in this gene cause primary ciliary dyskinesia and Kartagener Syndrome (situs inversus, chronic sinusitis, and bronchiectasis), but these are usually more severe (splicing, nonsense, or frameshift). DNAI1 Ala8Ser A8S not reviewed Insufficiently evaluated not reviewed unknown Array rs11547035 521 10758 0.0484291 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 3 - 4 - - DNAJA4 Val27Ala V27A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJA4 Val54Ala V54A not reviewed Insufficiently evaluated not reviewed unknown Array rs61752771 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJA4 Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJB3 Asp85Glu D85E not reviewed Insufficiently evaluated not reviewed unknown Array rs34622615 381 9902 0.0384771 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 1 - 2 - - DNASE2B Tyr95His Y95H not reviewed Insufficiently evaluated not reviewed unknown Array 105 9710 0.0108136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNHD1 Cys1010Arg C1010R not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOC2A Pro392Ala P392A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10676 0.00590109 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.913 - - 2 - 2 N - - DOCK10 Ala159Val A159V not reviewed Insufficiently evaluated not reviewed unknown Array 138 9610 0.01436 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK3 Asp1660Val D1660V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOK2 Ala113Val A113V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10402 9.6135e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - DOK3 Gln207Arg Q207R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOK3 Gln309Arg Q309R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPYD Phe167Leu F167L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DPYS Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array rs57732538 73 8348 0.00874461 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 2 - 7 - - DSC3 Gly836Arg G836R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - DSC3 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array rs35630063 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.992 - - 0 - 2 N - - DST Gly2719Glu G2719E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DTD1 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 83 3736 0.0222163 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.938 - - 7 Y 2 N - - DUSP26 Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - DYNC1LI1 Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - DYTN Pro122Arg P122R not reviewed Insufficiently evaluated not reviewed unknown Array rs56067462 677 9720 0.0696502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.79 - - 5 Y 0 N - - EFCAB5 Gln952Stop Q952X not reviewed Insufficiently evaluated not reviewed unknown Array rs73274829 29 9684 0.00299463 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFCAB6 His615Tyr H615Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFCAB6 His767Tyr H767Y not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - EFCAB6 Ile609Met I609M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFCAB6 Ile761Met I761M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.286 - - -1 - 1 N - - EFCAB6 Arg199Gly R199G not reviewed Insufficiently evaluated not reviewed unknown Array rs3747203 479 10758 0.044525 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - EFCAB6 Arg47Gly R47G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFHA2 Gly92Arg G92R not reviewed Insufficiently evaluated not reviewed unknown Array rs28539976 107 3418 0.0313049 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFHB Pro509Ala P509A not reviewed Insufficiently evaluated not reviewed unknown Array rs73188448 84 10758 0.00780814 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFHC2 Cys57Tyr C57Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61636783 108 7832 0.0137896 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - EGLN2 Ser58Leu S58L not reviewed Insufficiently evaluated not reviewed unknown Array rs61750953 136 10756 0.0126441 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.87 - - 6 Y 2 N - - EHBP1L1 Arg136Trp R136W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10562 0.000568074 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ELL Ser297Asn S297N not reviewed Insufficiently evaluated not reviewed unknown Array rs2303694 1222 9540 0.128092 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMG1 Ala192Val A192V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - EMILIN2 Pro801Ala P801A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EML5 Ala782Val A782V not reviewed Insufficiently evaluated not reviewed unknown Array rs73327325 1 9534 0.000104887 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - EML6 Ser1455Cys S1455C not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMR1 Arg2Leu R2L not reviewed Insufficiently evaluated not reviewed unknown Array rs34176643 192 10758 0.0178472 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 6 - - EPHA10 Thr220Lys T220K not reviewed Insufficiently evaluated not reviewed unknown Array rs56276182 485 10694 0.0453525 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - EPPK1 Asp2378His D2378H not reviewed Insufficiently evaluated not reviewed unknown Array 87 10696 0.00813388 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPPK1 Gln2075Pro Q2075P not reviewed Insufficiently evaluated not reviewed unknown Array 123 10564 0.0116433 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERAP2 Arg205His R205H not reviewed Insufficiently evaluated not reviewed unknown Array rs73150323 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ERCC4 Ile706Thr I706T not reviewed Insufficiently evaluated not reviewed unknown Array rs1800069 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.983 - Y 3 - 3 N - - ETHE1 Ala21Ser A21S not reviewed Insufficiently evaluated not reviewed unknown Array 123 9738 0.0126309 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 3 - 10 - - EVC Arg724Trp R724W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.055 Y - 7 Y 1 N - - EVPLL Asp73Tyr D73Y not reviewed Insufficiently evaluated not reviewed unknown Array 54 3234 0.0166976 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXD3 Val504Met V504M not reviewed Insufficiently evaluated not reviewed unknown Array 1141 10360 0.110135 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM153B Thr182Ala T182A not reviewed Insufficiently evaluated not reviewed unknown Array 383 10758 0.0356014 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.583 - - 1 - 1 N - - FAM184A Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM184A Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array rs41292560 80 9548 0.00837872 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM184B Asp275His D275H not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM185A Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array 173 3216 0.0537935 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM18B2 Ser199Thr S199T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM21B Thr254Ala T254A not reviewed Insufficiently evaluated not reviewed unknown Array rs2669647 73 5866 0.0124446 14 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM21B Arg610Gly R610G not reviewed Insufficiently evaluated not reviewed unknown Array rs2610489 74 94 0.787234 34 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM47B Glu120Gln E120Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41305183 520 8759 0.0593675 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM47C Glu249Gln E249Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - FAM47C Asp576Asn D576N not reviewed Insufficiently evaluated not reviewed unknown Array 14 8759 0.00159836 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.683 - - -1 - 1 N - - FAM55B Asp516Tyr D516Y not reviewed Insufficiently evaluated not reviewed unknown Array 24 3234 0.00742115 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM65B Arg868Gln R868Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9461073 746 3234 0.230674 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - FAM71E2 Leu723Phe L723F not reviewed Insufficiently evaluated not reviewed unknown Array 43 3234 0.0132962 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM71E2 Arg382Ser R382S not reviewed Insufficiently evaluated not reviewed unknown Array 16 3234 0.00494743 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM75A3 His139Gln H139Q not reviewed Insufficiently evaluated not reviewed unknown Array 1735 9668 0.179458 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.815 - - -1 - 0 N - - FAM82A1 Asn523Ser N523S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM83D Ser28Arg S28R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM83H Pro1110Ala P1110A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - FAM86B2 Gly108Asp G108D not reviewed Insufficiently evaluated not reviewed unknown Array 34 3230 0.0105263 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FANCA Asn8Lys N8K not reviewed Insufficiently evaluated not reviewed unknown Array 281 8302 0.0338473 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.955 Y Y 1 - 5 - 3 - - FAT1 Arg3674Ser R3674S not reviewed Insufficiently evaluated not reviewed unknown Array rs73030811 2 10302 0.000194137 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 3 - 2 N - - FAT1 Val1577Ile V1577I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 Y - -4 - 1 N - - FAT1 Ala647Val A647V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9720 0.000308641 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 Y - 2 - 3 N - - FATE1 Gly107Asp G107D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.91 - - 4 Y 2 N - - FBF1 Gly454Val G454V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744844 82 10210 0.00803134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBLIM1 Ala308Ser A308S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBLN2 Arg571Cys R571C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBXL21 Gln395His Q395H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXL4 His35Gln H35Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34316889 279 10758 0.0259342 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 2 - 1 - - FBXO10 His212Asn H212N not reviewed Insufficiently evaluated not reviewed unknown Array rs7044561 140 9890 0.0141557 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - FBXO24 Arg288His R288H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO24 Arg302His R302H not reviewed Insufficiently evaluated not reviewed unknown Array rs7801492 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - FBXO25 Asn36Asp N36D not reviewed Insufficiently evaluated not reviewed unknown Array rs17665340 511 10758 0.0474995 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 3 - - FBXO34 Val432Ala V432A not reviewed Insufficiently evaluated not reviewed unknown Array rs35070799 604 10758 0.0561443 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - FBXO7 Gly6Glu G6E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 8 - - FBXW10 Arg275Leu R275L not reviewed Insufficiently evaluated not reviewed unknown Array 442 10710 0.0412698 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - FBXW5 Met453Thr M453T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10750 0.00316279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.516 - - 2 - 1 N - - FCAMR Thr477Ala T477A not reviewed Insufficiently evaluated not reviewed unknown Array 77 7820 0.00984655 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGBP Gly4465Ser G4465S not reviewed Insufficiently evaluated not reviewed unknown Array 62 992 0.0625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 - 2 - - FCGBP Ala3841Glu A3841E not reviewed Insufficiently evaluated not reviewed unknown Array rs2542321 7 10648 0.0006574 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCRL4 Pro12Ser P12S not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 1 - - FEM1C Ser370Asn S370N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGD5 His600Tyr H600Y not reviewed Insufficiently evaluated not reviewed unknown Array 111 9936 0.0111715 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FHOD3 Gly1367Ala G1367A not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FKBP15 Asp448Asn D448N not reviewed Insufficiently evaluated not reviewed unknown Array rs45559933 298 9970 0.0298897 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.514 - - -1 - 1 N - - FLG Ala2076Thr A2076T not reviewed Insufficiently evaluated not reviewed unknown Array 763 10758 0.070924 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - FLG Ser1865Arg S1865R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Ser805Phe S805F not reviewed Insufficiently evaluated not reviewed unknown Array rs72698904 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLJ20674 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLJ46321 His1421Tyr H1421Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ46321 Pro1519Arg P1519R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLNC Arg1827Cys R1827C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLNC Arg1860Cys R1860C not reviewed Insufficiently evaluated not reviewed unknown Array 41 10136 0.00404499 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.196 Y Y 8 Y 2 N - - FLYWCH2 Thr83Ser T83S not reviewed Insufficiently evaluated not reviewed unknown Array rs61223280 181 10752 0.0168341 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.769 - - -2 - 1 N - - FOXD4 Ile152Val I152V not reviewed Insufficiently evaluated not reviewed unknown Array rs7031810 1935 10388 0.186273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FRAS1 Asp2544Asn D2544N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - FREM1 Ile499Val I499V not reviewed Insufficiently evaluated not reviewed unknown Array rs1353223 953 10206 0.0933764 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.776 - - -4 - 1 - 4 - - FRMD4B Asp264Asn D264N not reviewed Insufficiently evaluated not reviewed unknown Array rs72932142 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FURIN Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array rs16944971 310 10730 0.028891 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FUT4 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FXYD2 Leu141Ser L141S not reviewed Insufficiently evaluated not reviewed unknown Array rs12280904 44 3234 0.0136054 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - GABRP Val349Ala V349A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733087 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - GABRR3 Gly86Ala G86A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAK Pro898Leu P898L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10720 0.000839552 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - GALNT5 Arg784Stop R784X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GCKR Gln234Pro Q234P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 4 Y 1 N - - GCKR Arg540Stop R540X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GEMIN4 Phe782Leu F782L not reviewed Insufficiently evaluated not reviewed unknown Array rs34452716 57 9798 0.00581751 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - GEMIN5 Lys835Arg K835R not reviewed Insufficiently evaluated not reviewed unknown Array rs61749644 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - -3 - 1 N - - GH2 Pro241Thr P241T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GHRL Gly18Arg G18R not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLDC Ser26Pro S26P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - GNAT3 Asp26Gly D26G not reviewed Insufficiently evaluated not reviewed unknown Array rs73369087 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.792 - - 4 Y 1 N - - GPAM Ala420Val A420V not reviewed Insufficiently evaluated not reviewed unknown Array rs73365184 234 10758 0.0217513 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.358 - - 2 - 1 N - - GPR113 Val731Met V731M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR113 Val861Met V861M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR113 Val930Met V930M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - GPR179 Glu57Lys E57K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - GPR35 Ala25Thr A25T not reviewed Insufficiently evaluated not reviewed unknown Array rs35146537 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - GPR50 Ser493Asn S493N not reviewed Insufficiently evaluated not reviewed unknown Array rs62620754 845 8427 0.100273 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR78 Arg318Cys R318C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746144 169 10756 0.0157122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.798 - - 8 Y 1 N - - GPR98 Pro194His P194H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745498 175 9692 0.0180561 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.969 Y Y 5 Y 4 N - - GPR98 Arg1319Gln R1319Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73181648 36 9906 0.00363416 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.939 Y Y 0 - 5 - 1 - - GPR98 Ser2764Leu S2764L not reviewed Insufficiently evaluated not reviewed unknown Array rs16869016 450 9600 0.046875 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 6 Y 3 - 2 - - GPR98 Met3526Thr M3526T not reviewed Insufficiently evaluated not reviewed unknown Array rs41311343 214 9706 0.0220482 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GPSM1 Arg439His R439H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GPSM2 Gly356Arg G356R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754640 254 10758 0.0236103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRB14 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GRIP2 Thr931Met T931M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731939 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GRSF1 Lys122Arg K122R not reviewed Insufficiently evaluated not reviewed unknown Array rs4694082 3 9514 0.000315324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - GSC2 Cys205Ser C205S not reviewed Insufficiently evaluated not reviewed unknown Array rs73390724 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - GSDMB Asp266Asn D266N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GSDMB Asp275Asn D275N not reviewed Insufficiently evaluated not reviewed unknown Array rs35266519 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GSR Ser15Gly S15G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 1 - 10 - - GSTM4 Lys206Arg K206R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229051 14 10742 0.0013033 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - GSTM4 Leu208Val L208V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229052 5 124 0.0403226 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - GSTM4 Tyr209Phe Y209F not reviewed Insufficiently evaluated not reviewed unknown Array rs2229053 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - GTF2H2B Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array rs162959 39 46 0.847826 13 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GTF2H2C Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GTF2H2D Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GTPBP6 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GYG2 His7Tyr H7Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11797037 231 2263 0.102077 13 0 17 0 0 - - - - - - - - - - - - - - - - 0.396 - - -1 - 1 - 7 - - HACL1 Ile151Phe I151F not reviewed Insufficiently evaluated not reviewed unknown Array rs74637339 395 10756 0.0367237 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.967 - - 2 - 2 N - - HAPLN3 Gly333Trp G333W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - HAS1 Ala92Val A92V not reviewed Insufficiently evaluated not reviewed unknown Array rs58496877 66 8516 0.00775012 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR5A Gln1617Arg Q1617R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734972 84 9634 0.00871912 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR5A Gly77Ser G77S not reviewed Insufficiently evaluated not reviewed unknown Array rs73259359 208 9768 0.021294 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEPHL1 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73551201 113 9672 0.0116832 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HES2 Pro139Ser P139S not reviewed Insufficiently evaluated not reviewed unknown Array rs2235687 78 4094 0.0190523 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - HEXDC Arg188Gln R188Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8077469 58 10150 0.00571429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 1 - 1 - - HGSNAT Lys523Gln K523Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73569592 342 9532 0.0358791 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 3 - 1 - - HISPPD1 Pro933Thr P933T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HK3 Gly246Asp G246D not reviewed Insufficiently evaluated not reviewed unknown Array rs61749653 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - HLA-C Val327Met V327M not reviewed Insufficiently evaluated not reviewed unknown Array rs41547312 401 10452 0.0383659 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-C Leu218Ile L218I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DQB1 Gly157Arg G157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HLA-DRB1 Arg218Ser R218S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-DRB1 Leu162Gln L162Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - HLA-DRB5 Val114Ala V114A not reviewed Insufficiently evaluated not reviewed unknown Array rs1136778 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - HLA-DRB5 Tyr11Cys Y11C not reviewed Insufficiently evaluated not reviewed unknown Array 3305 10622 0.311147 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 1 - - HMMR Arg246His R246H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HMMR Arg317His R317H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HMMR Arg332His R332H not reviewed Insufficiently evaluated not reviewed unknown Array rs2303078 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HMMR Arg333His R333H not reviewed Insufficiently evaluated not reviewed unknown Array 407 10754 0.0378464 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HNRNPCL1 Asp121Gly D121G not reviewed Insufficiently evaluated not reviewed unknown Array rs1737105 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - HOMEZ Ser277Leu S277L not reviewed Insufficiently evaluated not reviewed unknown Array rs73602454 1 10562 9.4679e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HOXD1 Ala67Pro A67P not reviewed Insufficiently evaluated not reviewed unknown Array 64 3284 0.0194884 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Gly1348Ser G1348S not reviewed Insufficiently evaluated not reviewed unknown Array 14 24 0.583333 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HSD17B7 Ser11Thr S11T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - HSPD1 Gly563Ala G563A not reviewed Insufficiently evaluated not reviewed unknown Array rs66463408 125 10368 0.0120563 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HSPG2 Ala4382Asp A4382D not reviewed Insufficiently evaluated not reviewed unknown Array 5 9154 0.000546209 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - HSPG2 Arg2977Trp R2977W not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - HTR3D Arg124Trp R124W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HTR3D Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array rs73050315 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR3D Ala261Thr A261T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - HYDIN Arg2017His R2017H not reviewed Insufficiently evaluated not reviewed unknown Array 188 9330 0.0201501 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - IDO2 Asp77Glu D77E not reviewed Insufficiently evaluated not reviewed unknown Array rs73619581 4 9862 0.000405597 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - IER5L Pro283Ser P283S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFI27 Pro71Gln P71Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IFRD2 Thr73Lys T73K not reviewed Insufficiently evaluated not reviewed unknown Array 181 8112 0.0223126 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT74 Ile360Met I360M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGF2AS Ser84Ile S84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.26 - - 5 Y 1 N - - IGFBPL1 Gln199Arg Q199R not reviewed Insufficiently evaluated not reviewed unknown Array rs12000402 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.109 - - 0 - 0 N - - IL17RB Ala488Ser A488S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - IL4R Pro675Ser P675S not reviewed Insufficiently evaluated not reviewed unknown Array rs3024678 156 10758 0.0145008 3 0 3 0 0 1 Y - - - - - - - - - - - - - - 0.967 - - 3 - 3 - 9 - - INF2 Arg820Trp R820W not reviewed Insufficiently evaluated not reviewed unknown Array 15 10134 0.00148017 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IQCF2 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 530 10758 0.0492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 3 - 1 - - IQGAP1 Met1231Ile M1231I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 3 - 1 - - IRAK2 Ser47Tyr S47Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11465864 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - ISX Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735502 890 10758 0.0827291 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ITGA10 Thr1083Met T1083M not reviewed Insufficiently evaluated not reviewed unknown Array rs61741868 279 10758 0.0259342 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 0 N - - ITIH3 Arg825Gln R825Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2710330 155 10738 0.0144347 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 2 - 4 - - ITSN2 Ile1260Thr I1260T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITSN2 Ile1287Thr I1287T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731625 763 10758 0.070924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - KALRN Ser727Thr S727T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745397 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KANK1 Glu195Gln E195Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KANK1 Glu353Gln E353Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 1 N - - KARS Arg420Cys R420C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 8 Y 0 N - - KARS Arg448Cys R448C not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCNK5 Arg263Trp R263W not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KDM2B Leu1262Ser L1262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0415 Gly423Arg G423R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10132 9.8697e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0556 Arg885Gln R885Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16976970 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 3 - 3 - - KIAA0586 Glu325Val E325V not reviewed Insufficiently evaluated not reviewed unknown Array 22 9422 0.00233496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0746 Ala429Thr A429T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0754 Ala79Thr A79T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9870 0.000101317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0754 His520Tyr H520Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61073427 16 9586 0.0016691 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0754 Glu986Lys E986K not reviewed Insufficiently evaluated not reviewed unknown Array rs72928320 16 10170 0.00157325 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0754 Ile1321Met I1321M not reviewed Insufficiently evaluated not reviewed unknown Array rs72928322 16 10286 0.00155551 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0774 Thr894Ile T894I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIAA1107 Val467Leu V467L not reviewed Insufficiently evaluated not reviewed unknown Array 98 3234 0.030303 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KIAA1109 His826Tyr H826Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - KIAA1383 Gly295Arg G295R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746497 168 9942 0.016898 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - KIAA1549 Arg1552His R1552H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1614 Arg740Trp R740W not reviewed Insufficiently evaluated not reviewed unknown Array rs17302207 307 10112 0.03036 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 1 - 4 - - KIAA1731 Gln80Lys Q80K not reviewed Insufficiently evaluated not reviewed unknown Array rs7128850 52 3234 0.0160792 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - KIAA1881 Gly996Glu G996E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1881 Thr901Ala T901A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1881 Gly725Ser G725S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1881 Val602Ile V602I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1881 Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1958 Gly495Ser G495S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - KIAA2026 His1384Gln H1384Q not reviewed Insufficiently evaluated not reviewed unknown Array 815 9710 0.0839341 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 1 N - - KIF19 Arg974Gln R974Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9675190 525 9748 0.0538572 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 1 - 1 - - KIF24 Gly1047Val G1047V not reviewed Insufficiently evaluated not reviewed unknown Array rs73494718 102 10758 0.00948132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - KIF26B Ile1362Val I1362V not reviewed Insufficiently evaluated not reviewed unknown Array rs73127011 19 10286 0.00184717 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.437 - - -4 - 1 N - - KIF2A Asp65Glu D65E not reviewed Insufficiently evaluated not reviewed unknown Array rs73102041 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - KIF4B Thr512Ala T512A not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - KIF4B Tyr684Cys Y684C not reviewed Insufficiently evaluated not reviewed unknown Array rs10056252 622 10758 0.0578174 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 - 1 - - KIF9 Ile395Val I395V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.036 - - -4 - 0 N - - KIR2DL1 Ser289Ile S289I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIR2DL4 Asn58Lys N58K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR3DL1 Glu258Asp E258D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIR3DL2 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 2 4446 0.000449842 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - KIR3DL3 Asn56Lys N56K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR3DL3 Gly231Asp G231D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR3DP1 Phe266Leu F266L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KLHL38 Cys504Tyr C504Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11779866 852 10368 0.0821759 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 - 2 - - KNTC1 Gln1455Glu Q1455E not reviewed Insufficiently evaluated not reviewed unknown Array rs73407858 85 10146 0.00837769 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - KRBA1 Ser197Ala S197A not reviewed Insufficiently evaluated not reviewed unknown Array 1171 9698 0.120747 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KRT16 Gly23Ser G23S not reviewed Insufficiently evaluated not reviewed unknown Array 180 10544 0.0170713 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.686 Y Y 2 - 3 N - - KRT33B Leu99Val L99V not reviewed Insufficiently evaluated not reviewed unknown Array rs9903686 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - KRT38 Gln235Stop Q235X not reviewed Insufficiently evaluated not reviewed unknown Array 367 10754 0.0341268 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP1-3 Pro27Gln P27Q not reviewed Insufficiently evaluated not reviewed unknown Array 139 10010 0.0138861 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP2-1 Pro22Arg P22R not reviewed Insufficiently evaluated not reviewed unknown Array rs9635728 184 2278 0.0807726 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 1 N - - KRTAP4-12 Thr34Asn T34N not reviewed Insufficiently evaluated not reviewed unknown Array 193 10666 0.0180949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP4-8 Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array 467 2750 0.169818 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP4-8 Asn123Thr N123T not reviewed Insufficiently evaluated not reviewed unknown Array 516 2436 0.211823 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP5-10 Cys42Arg C42R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10688 0.000561377 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LAMA5 Glu3576Lys E3576K not reviewed Insufficiently evaluated not reviewed unknown Array 44 10742 0.00409607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - LAMA5 Arg1903Lys R1903K not reviewed Insufficiently evaluated not reviewed unknown Array 219 10670 0.0205248 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - LARGE Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - 0 - 2 - 10 - - LELP1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - LEPREL2 Thr313Pro T313P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LEPREL2 Arg514Gln R514Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGALS3 Gln201His Q201H not reviewed Insufficiently evaluated not reviewed unknown Array rs11125 539 9848 0.0547319 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LGALS9B Ser6Cys S6C not reviewed Insufficiently evaluated not reviewed unknown Array rs4985834 6506 7282 0.893436 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 1 - - LGALS9C Thr81Arg T81R not reviewed Insufficiently evaluated not reviewed unknown Array rs2462991 26 72 0.361111 14 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LILRA2 Met233Ile M233I not reviewed Insufficiently evaluated not reviewed unknown Array rs57374173 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - LILRA5 Pro281Ser P281S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRA5 Pro293Ser P293S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 3 - 2 N - - LILRB3 Ser562Pro S562P not reviewed Insufficiently evaluated not reviewed unknown Array 859 10752 0.0798921 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LILRB3 Ser561Pro S561P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB3 Arg175Gly R175G not reviewed Insufficiently evaluated not reviewed unknown Array rs4023899 6382 7328 0.870906 11 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LMOD3 Ala560Val A560V not reviewed Insufficiently evaluated not reviewed unknown Array rs17005363 135 9742 0.0138575 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - 2 - 2 - 1 - - LOC100132247 Lys531Asn K531N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC285679 Ile254Thr I254T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC375337 Met738Val M738V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC388199 Gly299Glu G299E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC388931 Ala36Asp A36D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOC388946 Glu91Gly E91G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC388946 Thr95Ala T95A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC390748 Arg169Cys R169C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC391343 Ala11Gly A11G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC400713 Tyr150Cys Y150C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC401399 Ser43Thr S43T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC643677 Tyr6396Stop Y6396X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC643677 Arg2048Ser R2048S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC643854 Gly20Arg G20R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC649330 Asp121Gly D121G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC650293 Leu185Phe L185F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - LOC654254 Cys366Arg C366R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC728819 Glu235Asp E235D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC729991 Pro110Leu P110L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC91431 Val800Met V800M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LONP1 Val675Leu V675L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOXHD1 Asp676Gly D676G not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - LRIG1 Pro721Leu P721L not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.463 - - 7 Y 1 N - - LRRC36 Arg5Pro R5P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC48 Phe248Leu F248L not reviewed Insufficiently evaluated not reviewed unknown Array rs73303853 15 10428 0.00143843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC48 Arg494Lys R494K not reviewed Insufficiently evaluated not reviewed unknown Array rs73303861 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRRC4B Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array 24 7664 0.00313152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRWD1 Pro593Leu P593L not reviewed Insufficiently evaluated not reviewed unknown Array 346 10756 0.0321681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - LST-3TM12 Gln640Lys Q640K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LVRN Trp760Stop W760X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LYZL4 Pro59Ser P59S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - MACC1 Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array rs35420793 195 10756 0.0181294 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - MAMDC4 Ala209Thr A209T not reviewed Insufficiently evaluated not reviewed unknown Array rs45449193 668 10754 0.0621164 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAMLD1 Asn662Ser N662S not reviewed Insufficiently evaluated not reviewed unknown Array rs2073043 6 92 0.0652174 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MAP2 Met1099Val M1099V not reviewed Insufficiently evaluated not reviewed unknown Array rs17745550 540 10758 0.0501952 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 6 - - MAP3K2 Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MAP4K4 His655Asn H655N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK11 Gly358Cys G358C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - MARCH7 Met191Val M191V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MATN2 Ala599Thr A599T not reviewed Insufficiently evaluated not reviewed unknown Array rs35120814 377 10324 0.0365169 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.747 - - 1 - 2 - 3 - - MBD5 Ile69Val I69V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MBOAT4 Gly231Glu G231E not reviewed Insufficiently evaluated not reviewed unknown Array rs16876563 109 3234 0.0337044 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 3 - 3 - - MCM4 Leu339Phe L339F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.171 - - 0 - 0 N - - MEGF6 Gly1536Ser G1536S not reviewed Insufficiently evaluated not reviewed unknown Array rs57484147 188 9966 0.0188641 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.6 - - 2 - 2 - 2 - - MEGF6 Arg1287His R1287H not reviewed Insufficiently evaluated not reviewed unknown Array rs57804877 135 9976 0.0135325 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MEGF8 Arg2207His R2207H not reviewed Insufficiently evaluated not reviewed unknown Array rs73554568 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEGF8 Arg2407His R2407H not reviewed Insufficiently evaluated not reviewed unknown Array 40 10754 0.00371955 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEIS2 His414Arg H414R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEIS2 His421Arg H421R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - MERTK Ser118Asn S118N not reviewed Insufficiently evaluated not reviewed unknown Array rs13027171 2394 10758 0.222532 15 0 18 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 - 2 - - METTL11B Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 3234 0.0170068 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - METTL2B Glu169Lys E169K not reviewed Insufficiently evaluated not reviewed unknown Array rs1065267 1101 10756 0.102361 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - MGA Pro628Gln P628Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736074 128 9644 0.0132725 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - MGA Leu2636Ser L2636S not reviewed Insufficiently evaluated not reviewed unknown Array rs73408933 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MICA Arg29Pro R29P not reviewed Insufficiently evaluated not reviewed unknown Array rs9380254 138 3182 0.043369 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 7 - - MICA Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array rs1051798 838 3230 0.259443 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 3 - - MICAL3 Arg1413Cys R1413C not reviewed Insufficiently evaluated not reviewed unknown Array 304 9944 0.0305712 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MICAL3 Pro1144Ala P1144A not reviewed Insufficiently evaluated not reviewed unknown Array 48 10330 0.00464666 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MIER2 Pro464Ser P464S not reviewed Insufficiently evaluated not reviewed unknown Array rs34129568 145 10744 0.0134959 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.569 - - 3 - 2 - 2 - - MKI67 Arg2247His R2247H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - MKI67 Arg2607His R2607H not reviewed Insufficiently evaluated not reviewed unknown Array rs34688192 32 10758 0.00297453 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.316 - - 1 - 2 - 2 - - MLL4 Thr172Ile T172I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - MLL5 Ser1532Asn S1532N not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - MMADHC Val193Ala V193A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10728 0.00093214 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.778 Y Y 2 - 3 N - - MOCS2 Thr50Ala T50A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233213 340 10758 0.0316044 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.725 Y - 1 - 2 N - - MPDZ Gly737Ser G737S not reviewed Insufficiently evaluated not reviewed unknown Array rs73406290 4 10126 0.000395022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPND Arg235Trp R235W not reviewed Insufficiently evaluated not reviewed unknown Array 33 9936 0.00332126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - MR1 Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array rs41268456 96 10754 0.00892691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 3 - 2 - - MRPS17 Val71Ile V71I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MRPS22 Thr206Ile T206I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - MSLNL Arg18Trp R18W not reviewed Insufficiently evaluated not reviewed unknown Array rs61734014 91 9258 0.00982934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MSMP Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTR Pro749Ser P749S pathogenic High clinical importance, Uncertain pathogenic unknown Array 11 10758 0.00102249 1 0 1 0 0 1 Y - - 0 Y - - 4 - 3 - Y - - - 0.999 Y Y 3 - 4 N 2 0 Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause methylcobalamin deficiency. MUC16 Ala13460Val A13460V not reviewed Insufficiently evaluated not reviewed unknown Array rs73493671 93 10104 0.00920427 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Asn12498Asp N12498D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Thr12494Ser T12494S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Glu9531Lys E9531K not reviewed Insufficiently evaluated not reviewed unknown Array rs73495742 54 9944 0.00543041 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Met8891Thr M8891T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731848 296 10030 0.0295115 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Thr8629Met T8629M not reviewed Insufficiently evaluated not reviewed unknown Array rs56807558 284 9914 0.0286464 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ser7692Pro S7692P not reviewed Insufficiently evaluated not reviewed unknown Array rs73495749 9 10142 0.000887398 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr7105Ile T7105I not reviewed Insufficiently evaluated not reviewed unknown Array rs73495751 295 10228 0.0288424 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Ala5874Asp A5874D not reviewed Insufficiently evaluated not reviewed unknown Array 19 9936 0.00191224 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Thr4470Met T4470M not reviewed Insufficiently evaluated not reviewed unknown Array rs59096253 8 10176 0.000786163 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ser4207Leu S4207L not reviewed Insufficiently evaluated not reviewed unknown Array rs73495759 7 9906 0.000706642 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Ser2223Arg S2223R not reviewed Insufficiently evaluated not reviewed unknown Array rs73495780 50 10028 0.00498604 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Pro1955Gln P1955Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Asp804Asn D804N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732128 761 10546 0.0721601 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC20 Arg460Trp R460W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - MUC20 Arg495Trp R495W not reviewed Insufficiently evaluated not reviewed unknown Array rs11923495 548 10032 0.0546252 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 2 - - MUC21 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array rs34126344 596 10758 0.0554006 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC21 Thr392Asn T392N not reviewed Insufficiently evaluated not reviewed unknown Array 179 10756 0.0166419 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Arg3846Pro R3846P not reviewed Insufficiently evaluated not reviewed unknown Array 197 2260 0.0871681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC4 Ala3654Thr A3654T not reviewed Insufficiently evaluated not reviewed unknown Array 1250 3184 0.392588 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Val3614Ala V3614A not reviewed Insufficiently evaluated not reviewed unknown Array 1548 3182 0.486486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC4 Pro1952Ser P1952S not reviewed Insufficiently evaluated not reviewed unknown Array 538 3226 0.16677 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Arg1696His R1696H not reviewed Insufficiently evaluated not reviewed unknown Array 349 3214 0.108587 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Thr181Lys T181K not reviewed Insufficiently evaluated not reviewed unknown Array rs729593 774 10270 0.0753651 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 1 - - MUC5AC Ala2754Val A2754V not reviewed Insufficiently evaluated not reviewed unknown Array rs61997210 523 10112 0.0517207 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Met2832Thr M2832T not reviewed Insufficiently evaluated not reviewed unknown Array rs2943502 5632 9416 0.598131 14 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Ala3631Thr A3631T not reviewed Insufficiently evaluated not reviewed unknown Array 234 10338 0.0226349 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Ala2064Val A2064V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Met2197Thr M2197T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ala3051Thr A3051T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Arg2352Trp R2352W not reviewed Insufficiently evaluated not reviewed unknown Array rs10902268 829 10344 0.0801431 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC6 Thr1922Ile T1922I not reviewed Insufficiently evaluated not reviewed unknown Array rs75538227 30 68 0.441176 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Ile1883Leu I1883L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10732 0.000838613 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC6 Pro1858Thr P1858T not reviewed Insufficiently evaluated not reviewed unknown Array 4 110 0.0363636 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC6 Ile1484Val I1484V not reviewed Insufficiently evaluated not reviewed unknown Array 4 40 0.1 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC6 Ala1479Thr A1479T not reviewed Insufficiently evaluated not reviewed unknown Array 155 10634 0.0145759 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Ala1468Thr A1468T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10700 0.000934579 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MX2 Ala686Thr A686T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - MXRA5 Asp222Asn D222N not reviewed Insufficiently evaluated not reviewed unknown Array 74 8761 0.00844652 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - MYADML2 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array 233 3014 0.0773059 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYB Ser389Pro S389P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYB Ser402Pro S402P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - MYB Ser405Pro S405P not reviewed Insufficiently evaluated not reviewed unknown Array 104 7820 0.0132992 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBPC2 Glu29Lys E29K not reviewed Insufficiently evaluated not reviewed unknown Array rs57092106 280 9486 0.0295172 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - MYBPC2 Val341Ile V341I not reviewed Insufficiently evaluated not reviewed unknown Array rs58511181 3 10232 0.000293197 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - MYBPC2 Gly514Ser G514S not reviewed Insufficiently evaluated not reviewed unknown Array rs8104931 324 10222 0.0316963 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - MYBPC3 Arg868Trp R868W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MYBPC3 Pro382Leu P382L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MYH14 Pro334Ala P334A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MYH14 Pro342Ala P342A not reviewed Insufficiently evaluated not reviewed unknown Array rs34498817 144 10022 0.0143684 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MYH6 Val1613Ala V1613A not reviewed Insufficiently evaluated not reviewed unknown Array rs61742476 149 10758 0.0138502 6 0 7 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - MYH6 Gln1593Leu Q1593L not reviewed Insufficiently evaluated not reviewed unknown Array rs45574136 202 10758 0.0187767 6 0 7 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - MYO19 Trp584Arg W584R not reviewed Insufficiently evaluated not reviewed unknown Array rs56919948 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO5C Leu635Phe L635F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - 0 - 1 N - - MYO7A Tyr1681Cys Y1681C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MYO7A Tyr1719Cys Y1719C benign Low clinical importance, Likely benign unknown Array 434 10078 0.0430641 4 0 5 1 1 ! Y - - 5 Y 1 Y - - - - Y - - - 0.913 Y Y 6 Y 5 - 10 0 1 Believed to be nonpathogenic. Other variants in this gene cause Usher Syndrome type 1B in a recessive manner, but this variant is fairly common and homozygotes have been reported as unaffected. MYOC Arg76Lys R76K not reviewed Insufficiently evaluated not reviewed unknown Array rs2234926 1037 10758 0.0963934 6 0 8 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - -3 - 3 - 10 - - MYOM3 Ser289Cys S289C not reviewed Insufficiently evaluated not reviewed unknown Array 4 9926 0.000402982 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 3 - 1 N - - MYOM3 Gly202Arg G202R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.281 - - 6 Y 1 N - - N4BP2 Gly1737Arg G1737R not reviewed Insufficiently evaluated not reviewed unknown Array 281 10758 0.0261201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - N4BP2L2 Glu672Lys E672K not reviewed Insufficiently evaluated not reviewed unknown Array rs17077568 546 9716 0.056196 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - NACA Pro1785Ser P1785S not reviewed Insufficiently evaluated not reviewed unknown Array 16 7818 0.00204656 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACA2 Val9Phe V9F not reviewed Insufficiently evaluated not reviewed unknown Array rs61748812 213 10758 0.0197992 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - NAF1 Asn17Ser N17S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - NAGS Glu61Gly E61G not reviewed Insufficiently evaluated not reviewed unknown Array 7 5442 0.00128629 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.894 Y - 6 Y 3 N - - NAP5 Asp1675Asn D1675N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAP5 Thr988Ser T988S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAP5 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - NAPRT1 Arg332Cys R332C not reviewed Insufficiently evaluated not reviewed unknown Array 53 10748 0.00493115 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NBEA Ser1694Asn S1694N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBEAL1 Gln1002Glu Q1002E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NBEAL1 Gln2292Glu Q2292E not reviewed Insufficiently evaluated not reviewed unknown Array 65 9660 0.00672878 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.708 - - -2 - 1 N - - NBEAL1 Thr1133Ala T1133A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBEAL1 Thr1202Ala T1202A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBEAL1 Thr2492Ala T2492A not reviewed Insufficiently evaluated not reviewed unknown Array 391 9762 0.0400533 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - NBPF1 Ser1141Asn S1141N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Leu315Val L315V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Leu3153Gln L3153Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBPF10 Gly3389Glu G3389E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBPF10 Leu3408Val L3408V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF10 Asp3541Asn D3541N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBPF10 Gly3623Stop G3623X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NBPF14 Ser844Ile S844I not reviewed Insufficiently evaluated not reviewed unknown Array 497 9576 0.0519006 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NBPF20 Pro258Leu P258L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF20 Val636Gly V636G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NBPF6 Arg494Gln R494Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF6 Arg523Gln R523Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBPF6 Ile499Val I499V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NBPF6 Ile528Val I528V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NCOA2 Ala407Ser A407S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754970 27 9878 0.00273335 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NCOR1 Ser172Leu S172L not reviewed Insufficiently evaluated not reviewed unknown Array 1294 10758 0.120283 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - NCOR2 Ser1509Thr S1509T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NCOR2 Ser1525Thr S1525T not reviewed Insufficiently evaluated not reviewed unknown Array 63 8590 0.00733411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NEIL3 Pro117Arg P117R not reviewed Insufficiently evaluated not reviewed unknown Array rs7689099 1063 10754 0.0988469 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 - 8 - - NEXN Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - NF1 Gln112His Q112H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y -1 - 4 N - - NFATC4 Leu748Pro L748P not reviewed Insufficiently evaluated not reviewed unknown Array rs56367620 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NFATC4 Leu811Pro L811P not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NHSL1 Pro1582Ala P1582A not reviewed Insufficiently evaluated not reviewed unknown Array 3 3094 0.000969618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NID1 Thr733Asn T733N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 1 - 2 N - - NOL8 Glu988Asp E988D not reviewed Insufficiently evaluated not reviewed unknown Array rs34224798 59 9474 0.00622757 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 1 - 3 - - NOL8 Asp841Glu D841E not reviewed Insufficiently evaluated not reviewed unknown Array rs15717 629 9892 0.0635867 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 3 - - NOL8 Val748Leu V748L not reviewed Insufficiently evaluated not reviewed unknown Array rs2236344 639 9900 0.0645455 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - NOL8 Gly470Glu G470E not reviewed Insufficiently evaluated not reviewed unknown Array rs58545014 308 9840 0.0313008 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.036 - - 6 Y 1 - 2 - - NPEPL1 Gly119Arg G119R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - NPEPPS Gly322Asp G322D not reviewed Insufficiently evaluated not reviewed unknown Array rs1809279 4 8 0.5 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 - 1 - - NPHP4 Ala544Gly A544G not reviewed Insufficiently evaluated not reviewed unknown Array rs12093500 254 9886 0.0256929 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - NR5A1 Cys55Tyr C55Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - NRK Arg727His R727H not reviewed Insufficiently evaluated not reviewed unknown Array rs33936206 171 7750 0.0220645 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - NUDT18 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NXNL2 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - OBSCN Glu6729Lys E6729K not reviewed Insufficiently evaluated not reviewed unknown Array rs73099650 25 10144 0.00246451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - OBSCN Glu7642Asp E7642D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - OC90 Ile258Thr I258T not reviewed Insufficiently evaluated not reviewed unknown Array rs61643278 142 9714 0.0146181 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ODF3L2 Thr189Ile T189I not reviewed Insufficiently evaluated not reviewed unknown Array 33 7004 0.00471159 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.654 - - 3 - 1 N - - ODZ3 Gly588Ala G588A not reviewed Insufficiently evaluated not reviewed unknown Array 83 9748 0.00851457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.128 - - 1 - 0 N - - ODZ4 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58537389 8 3234 0.00247372 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 3 - 2 - - OLA1 Glu188Gln E188Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OLA1 Glu346Gln E346Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - -2 - 2 N - - OPLAH Val340Ile V340I not reviewed Insufficiently evaluated not reviewed unknown Array rs55916375 530 10202 0.0519506 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 1 - - OPRL1 Val310Ile V310I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - OR10C1 Phe161Leu F161L not reviewed Insufficiently evaluated not reviewed unknown Array rs2074467 11 128 0.0859375 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 - 5 - - OR11H12 Thr33Ser T33S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10 0.2 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR11H12 Leu146His L146H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR11H12 Arg199Leu R199L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR1D4 Pro228Leu P228L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR1D5 Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - OR1I1 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 2 - - OR1K1 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array rs55961642 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 1 - 1 - - OR2A4 Arg238Cys R238C not reviewed Insufficiently evaluated not reviewed unknown Array rs2758222 25 0 34 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR2L2 Val108Gly V108G not reviewed Insufficiently evaluated not reviewed unknown Array rs73141397 264 10758 0.0245399 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2M2 Ser87Cys S87C not reviewed Insufficiently evaluated not reviewed unknown Array rs61156873 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 3 - 3 - - OR2T3 Val155Ala V155A not reviewed Insufficiently evaluated not reviewed unknown Array 943 10556 0.0893331 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - OR2T3 Thr202Met T202M not reviewed Insufficiently evaluated not reviewed unknown Array rs1770111 40 10424 0.0038373 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - OR2T34 Val155Ala V155A not reviewed Insufficiently evaluated not reviewed unknown Array 3317 10600 0.312925 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR2T5 Arg6Trp R6W not reviewed Insufficiently evaluated not reviewed unknown Array rs1890803 2705 10520 0.257129 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2T8 Ile99Phe I99F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - OR4C45 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array 9 106 0.0849057 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4F4 Arg293Gln R293Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1638319 10 104 0.0961538 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.324 - - 0 - 0 N - - OR4F4 Cys221Arg C221R not reviewed Insufficiently evaluated not reviewed unknown Array rs1419821 21 76 0.276316 14 0 22 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR4F5 Leu160Pro L160P not reviewed Insufficiently evaluated not reviewed unknown Array rs2531267 43 80 0.5375 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4K2 Val51Ala V51A not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4K2 Asp52Asn D52N not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - OR4N4 Glu88Ala E88A not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - OR52I2 Ile178Val I178V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.934 - - -4 - 3 - 2 - - OR52I2 Ile183Val I183V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - OR52I2 Ile186Met I186M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR52I2 Arg216Lys R216K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR6B2 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array rs60841887 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - OR7D4 Gly227Arg G227R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - OR8B3 Ser273Phe S273F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8B3 Ser230Tyr S230Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8U1 Gly242Ser G242S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8U8 Gly242Ser G242S not reviewed Insufficiently evaluated not reviewed unknown Array 13 80 0.1625 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OSBPL3 Ala352Thr A352T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL3 Ala383Thr A383T not reviewed Insufficiently evaluated not reviewed unknown Array rs34702159 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 1 N - - P2RY8 Val125Ile V125I not reviewed Insufficiently evaluated not reviewed unknown Array rs28578016 2215 10744 0.206162 20 0 23 0 0 - - - - - - - - - - - - - - - - 0.296 - - -4 - 0 N - - PABPC1L Glu180Ala E180A not reviewed Insufficiently evaluated not reviewed unknown Array 17 7820 0.00217391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.297 - - 3 - 1 N - - PAIP1 Gly23Glu G23E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PALM3 Val281Met V281M not reviewed Insufficiently evaluated not reviewed unknown Array 219 3234 0.067718 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - PARG His969Pro H969P not reviewed Insufficiently evaluated not reviewed unknown Array rs73312644 11 3234 0.00340136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PARG Trp485Arg W485R not reviewed Insufficiently evaluated not reviewed unknown Array 28 958 0.0292276 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PARG Val484Ile V484I not reviewed Insufficiently evaluated not reviewed unknown Array rs74974840 6 6 1 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PCDHA12 Thr662Met T662M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA7 Glu692Lys E692K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA9 Ile278Thr I278T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB13 Phe703Leu F703L not reviewed Insufficiently evaluated not reviewed unknown Array rs17844618 1467 10734 0.136669 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - PCDHB5 Pro673Arg P673R not reviewed Insufficiently evaluated not reviewed unknown Array 133 10590 0.012559 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.734 - - 5 Y 1 N - - PCDHB9 Gly461Ala G461A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGA4 Gln30Glu Q30E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHGA4 Lys190Thr K190T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGA6 Ala443Val A443V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA7 Arg176His R176H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGA7 Asn400Ser N400S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGB3 Phe20Tyr F20Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - PCDHGB3 Lys112Met K112M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHGB3 His326Gln H326Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHGB6 Val646Ala V646A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCK1 Ala548Thr A548T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PCLO Ala2458Thr A2458T not reviewed Insufficiently evaluated not reviewed unknown Array rs73385988 214 9830 0.0217701 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCM1 Gly871Val G871V not reviewed Insufficiently evaluated not reviewed unknown Array rs7009117 629 10044 0.0626245 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.034 - - 8 Y 1 - 2 - - PCM1 Arg1251His R1251H not reviewed Insufficiently evaluated not reviewed unknown Array rs17514547 206 9632 0.021387 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 3 - 4 - - PCMTD1 Pro342Ser P342S not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - PCMTD1 Ile186Arg I186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - PDE4DIP Asn2065Lys N2065K not reviewed Insufficiently evaluated not reviewed unknown Array 217 10754 0.0201785 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - PDE4DIP Leu1565Pro L1565P not reviewed Insufficiently evaluated not reviewed unknown Array 150 10750 0.0139535 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - PDE4DIP Arg360Thr R360T not reviewed Insufficiently evaluated not reviewed unknown Array 193 10750 0.0179535 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - PDE4DIP Arg523Thr R523T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE6A Gly850Val G850V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 2 - - PDK2 Gly319Arg G319R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PDXDC1 Gly145Glu G145E not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.797 - - 6 Y 1 N - - PEBP4 Glu104Gly E104G not reviewed Insufficiently evaluated not reviewed unknown Array rs34057411 292 9952 0.0293408 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.067 - - 6 Y 0 N - - PECI Pro179Thr P179T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PECI Pro42Thr P42T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - PELI2 Glu407Lys E407K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - PENK Pro90Leu P90L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - PFKL Val717Ala V717A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10752 0.00818452 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 2 - 3 - - PGA5 Thr265Ala T265A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - PGAM2 Ile114Ser I114S not reviewed Insufficiently evaluated not reviewed unknown Array rs61756062 240 10758 0.022309 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.876 Y - 5 Y 3 N - - PGAP1 Thr84Met T84M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PGD Asp246Tyr D246Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.745 - - 7 Y 1 N - - PGLYRP4 Gln92Arg Q92R not reviewed Insufficiently evaluated not reviewed unknown Array rs3006453 455 10758 0.0422941 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.719 - - 0 - 2 - 3 - - PHKG1 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PHLDB2 His21Gln H21Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PHLPP2 Tyr534Cys Y534C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.515 - - 6 Y 1 N - - PHRF1 Glu1230Ala E1230A not reviewed Insufficiently evaluated not reviewed unknown Array 130 10468 0.0124188 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - PHRF1 Ala1637Val A1637V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10082 0.00198373 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PI4K2A Val113Met V113M not reviewed Insufficiently evaluated not reviewed unknown Array 135 10102 0.0133637 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PIGB Leu324Ser L324S not reviewed Insufficiently evaluated not reviewed unknown Array rs73415566 29 9754 0.00297314 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.725 - - 6 Y 1 N - - PIGF Val62Ala V62A not reviewed Insufficiently evaluated not reviewed unknown Array rs113562214 105 10758 0.00976018 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - PIGO Ala154Asp A154D not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.505 - - 5 Y 1 N - - PIK3CB Ala398Val A398V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.418 - - 2 - 1 N - - PIK3R6 Ser704Leu S704L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PIR Arg97Trp R97W not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 3 - 2 - - PITRM1 Thr501Ile T501I not reviewed Insufficiently evaluated not reviewed unknown Array rs73579025 10 10270 0.000973709 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.123 - - 3 - 0 N - - PKD1 Ala1516Thr A1516T not reviewed Insufficiently evaluated not reviewed unknown Array 51 10702 0.00476546 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 3 - - PKD1L1 Arg2057His R2057H not reviewed Insufficiently evaluated not reviewed unknown Array rs17131834 172 10758 0.0159881 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.079 - - 1 - 1 - 3 - - PKD1L1 Ala2053Thr A2053T not reviewed Insufficiently evaluated not reviewed unknown Array rs73331750 171 10758 0.0158951 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PKD1L2 Thr2221Ile T2221I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L2 Pro1065Arg P1065R not reviewed Insufficiently evaluated not reviewed unknown Array 224 9900 0.0226263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKHD1 Arg3842Leu R3842L not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PKHD1L1 Arg2301Cys R2301C not reviewed Insufficiently evaluated not reviewed unknown Array rs73309320 6 9904 0.000605815 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PKHD1L1 Thr2810Asn T2810N not reviewed Insufficiently evaluated not reviewed unknown Array rs73313124 22 9872 0.00222853 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - PKN3 Lys678Arg K678R not reviewed Insufficiently evaluated not reviewed unknown Array rs73625290 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - -3 - 0 N - - PLA2G4E Val168Ile V168I not reviewed Insufficiently evaluated not reviewed unknown Array rs57770286 53 9934 0.00533521 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEKHA2 Ile186Asn I186N not reviewed Insufficiently evaluated not reviewed unknown Array rs59439576 66 10400 0.00634615 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - PLEKHG5 Gly810Ser G810S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - PLEKHG5 Gly866Ser G866S not reviewed Insufficiently evaluated not reviewed unknown Array rs76625876 522 10746 0.0485762 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PLEKHG5 Gly887Ser G887S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHM2 Val653Ile V653I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLXNA2 Ser842Phe S842F not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PNPLA8 Arg217Cys R217C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 1 N - - PNRC1 Phe253Leu F253L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 0 - 0 N - - POLB Pro242Arg P242R not reviewed Insufficiently evaluated not reviewed unknown Array rs3136797 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 10 - - POLR1C Ala315Val A315V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLR2J3 Met34Ile M34I not reviewed Insufficiently evaluated not reviewed unknown Array rs2522917 2 12 0.166667 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - POMC Pro132Ala P132A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10318 0.00116302 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.033 Y - 2 - 2 - 2 - - POTED Arg232Gly R232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POTED Pro235Gln P235Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - POTEG His349Arg H349R not reviewed Insufficiently evaluated not reviewed unknown Array rs2845218 47 6326 0.00742966 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPIAL4E Asn108Ser N108S not reviewed Insufficiently evaluated not reviewed unknown Array 297 418 0.710526 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPL Glu891Gln E891Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35869286 674 10756 0.0626627 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PPM1M Gly241Asp G241D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPM1M Gly292Asp G292D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741651 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP1R9B Arg219Gln R219Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRAM1 Val76Phe V76F not reviewed Insufficiently evaluated not reviewed unknown Array rs4239540 3953 9554 0.413753 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 4 - - PRAMEF1 Val444Phe V444F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - PRAMEF14 His327Arg H327R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRB1 Gln213Arg Q213R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRB1 Arg210Gln R210Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM9 Arg842Ser R842S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRG4 Pro639Thr P639T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - PRG4 Pro680Thr P680T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - PRG4 Pro732Thr P732T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - PRG4 Pro773Thr P773T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - PRIM2 Ser169Leu S169L not reviewed Insufficiently evaluated not reviewed unknown Array 134 9724 0.0137803 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRKDC Asn1071Ser N1071S not reviewed Insufficiently evaluated not reviewed unknown Array rs8178070 133 9698 0.0137142 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - PRPF39 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41307100 4 10720 0.000373134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRPF39 Asn217Asp N217D not reviewed Insufficiently evaluated not reviewed unknown Array rs45500394 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRR21 Val126Leu V126L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.126 - - 0 - 0 N - - PRUNE2 Ser2439Ile S2439I not reviewed Insufficiently evaluated not reviewed unknown Array rs3739523 340 7820 0.0434783 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSAPL1 Trp204Arg W204R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSMF1 Arg242His R242H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PSORS1C2 Gly25Asp G25D not reviewed Insufficiently evaluated not reviewed unknown Array rs2233950 239 7468 0.0320032 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - PTCH1 Asp55His D55H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PTGFRN Ser15Trp S15W not reviewed Insufficiently evaluated not reviewed unknown Array 192 9980 0.0192385 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTH2R Val435Met V435M not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PTPRF Thr1256Met T1256M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRF Thr1265Met T1265M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRQ Ile1520Thr I1520T not reviewed Insufficiently evaluated not reviewed unknown Array rs7963963 217 3232 0.0671411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 2 - - PYCRL Arg69Gln R69Q not reviewed Insufficiently evaluated not reviewed unknown Array 722 10716 0.0673759 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - QRICH2 Ser624Gly S624G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - QRICH2 Val621Asp V621D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - QRICH2 Glu620Ala E620A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - RAB37 Gln4Lys Q4K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAB6C Arg115Gly R115G not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - RAD51L1 Ala355Thr A355T not reviewed Insufficiently evaluated not reviewed unknown Array rs61758785 11 5294 0.00207782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD54L2 Asn1008Ser N1008S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - RANBP2 Pro780Leu P780L not reviewed Insufficiently evaluated not reviewed unknown Array 60 10708 0.00560329 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - RASAL3 Pro825Thr P825T not reviewed Insufficiently evaluated not reviewed unknown Array rs57208996 42 7410 0.00566802 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.949 - - 4 Y 3 - 1 - - RASAL3 Leu251Val L251V not reviewed Insufficiently evaluated not reviewed unknown Array rs58123634 502 10380 0.0483622 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 1 - - RBM11 Arg273Gln R273Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 9730 0.00339157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM33 Pro1059Leu P1059L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10092 0.00505351 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - RBMXL3 Ser536Ile S536I not reviewed Insufficiently evaluated not reviewed unknown Array 5 2482 0.0020145 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RBMXL3 Gly1061Ala G1061A not reviewed Insufficiently evaluated not reviewed unknown Array 17 2481 0.00685207 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RDH10 Val27Gly V27G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - 8 Y 1 N - - RDH8 Met202Ile M202I not reviewed Insufficiently evaluated not reviewed unknown Array 930 10758 0.0864473 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - RELB Arg438Gln R438Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RELN Ser630Arg S630R not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.65 - - 3 - 2 - 2 - - RELN Glu530Lys E530K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - REXO1 Leu104Val L104V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - REXO4 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array rs73550830 9 10740 0.000837988 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 2 - 1 - - RFPL2 Gln214Stop Q214X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RFPL2 Gln243Stop Q243X not reviewed Insufficiently evaluated not reviewed unknown Array rs41399052 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RFPL2 Gln304Stop Q304X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RGNEF Arg621Gln R621Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD3 Glu745Gln E745Q not reviewed Insufficiently evaluated not reviewed unknown Array 377 3106 0.121378 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RGPD4 Asp761Gly D761G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - RGPD4 Gln1169Arg Q1169R not reviewed Insufficiently evaluated not reviewed unknown Array rs832357 48 1168 0.0410959 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - RGS12 Leu58Phe L58F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - RHBDD3 His227Arg H227R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231397 62 10694 0.00579764 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.965 - - 1 - 3 - 3 - - RIPPLY1 Asn121Ser N121S not reviewed Insufficiently evaluated not reviewed unknown Array rs41306259 5 8026 0.000622975 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - RLN2 Arg134Leu R134L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738986 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - RNF170 Asp175Asn D175N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF217 Ile14Leu I14L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - RNF6 Gly381Val G381V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 8 Y 1 N - - RNMT Phe395Leu F395L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ROGDI Ser174Arg S174R not reviewed Insufficiently evaluated not reviewed unknown Array rs73513283 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - RPAP1 Arg582Gly R582G not reviewed Insufficiently evaluated not reviewed unknown Array rs11630901 1454 10758 0.135155 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 - 3 - - RREB1 Ser4Asn S4N not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTL1 Glu1346Lys E1346K not reviewed Insufficiently evaluated not reviewed unknown Array 89 3234 0.0275201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RUNDC1 Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array rs28584166 126 4434 0.0284168 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RUNDC2B Arg145His R145H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMD9 Ala1556Thr A1556T not reviewed Insufficiently evaluated not reviewed unknown Array rs34896991 45 10756 0.00418371 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SC4MOL Tyr44Cys Y44C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SCAPER Asn1097Ser N1097S not reviewed Insufficiently evaluated not reviewed unknown Array 49 9526 0.00514382 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCAPER Asn851Ser N851S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCAPER Glu326Gly E326G not reviewed Insufficiently evaluated not reviewed unknown Array 23 9600 0.00239583 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCAPER Glu80Gly E80G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCGB1C1 Gly40Arg G40R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10184 0.000294579 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCN5A Ser1102Tyr S1102Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 9 - - SCN5A Gly615Glu G615E pathogenic High clinical importance, Uncertain pathogenic dominant Array rs12720452 3 10264 0.000292283 1 1 1 5 5 3 Y 1 Y 1 Y - - 4 Y 3 Y Y - - - - Y Y 6 Y SCN5A-Related Disorders 8 2909 2 3135 4.311 4 Y 2 0 Rare, reported to be associated with long-QT syndrome (can cause syncopal spells, sudden death as a teenager / young adult), but observations are scattered may have some publication bias. SCN9A Ile1159Thr I1159T not reviewed Insufficiently evaluated not reviewed unknown Array rs73019664 11 9796 0.00112291 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SCNN1D Gln65Arg Q65R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3226 0.000309981 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCRN3 Ser325Ile S325I not reviewed Insufficiently evaluated not reviewed unknown Array rs41270195 358 10758 0.0332776 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEC16A Ala1689Val A1689V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10516 0.000475465 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC16B Thr492Met T492M not reviewed Insufficiently evaluated not reviewed unknown Array 108 10506 0.0102798 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.204 - - 2 - 1 N - - SEC16B Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array rs73045027 137 9990 0.0137137 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.732 - - 8 Y 1 N - - SEC23IP Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array rs73357833 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SEMA3B Arg374His R374H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA3B Arg375His R375H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA5A Ser956Gly S956G not reviewed Insufficiently evaluated not reviewed unknown Array rs34563995 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - SEPSECS Pro35Gln P35Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SERPINA12 Arg211Stop R211X not reviewed Insufficiently evaluated not reviewed unknown Array rs61757459 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SERPINB8 Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS15 Phe326Leu F326L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS15 Phe341Leu F341L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFT2D2 Gln132His Q132H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - SGSH Arg441Gln R441Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.052 Y - 0 - 2 - 1 - - SH2B3 Thr165Ser T165S not reviewed Insufficiently evaluated not reviewed unknown Array 285 5798 0.0491549 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 1 - 2 - - SH2D3C Leu375Phe L375F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D3C Leu569Phe L569F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D3C Leu571Phe L571F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D3C Leu572Phe L572F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D3C Leu729Phe L729F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - SHARPIN Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array rs11541805 268 10480 0.0255725 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 1 - 2 - - SHC2 Val513Ile V513I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750917 270 10738 0.0251443 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SHC4 Gln400His Q400H not reviewed Insufficiently evaluated not reviewed unknown Array rs16961728 157 10756 0.0145965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 3 - - SHF Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array rs16940558 458 9926 0.0461414 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SIGLEC11 Arg486Gly R486G not reviewed Insufficiently evaluated not reviewed unknown Array 330 10636 0.0310267 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.866 - - 6 Y 3 - 1 - - SIGLEC12 Lys138Arg K138R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SIGLEC12 Lys256Arg K256R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.084 - - -3 - 0 N - - SLC16A11 Ser92Asn S92N not reviewed Insufficiently evaluated not reviewed unknown Array 173 10124 0.0170881 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - SLC16A13 Pro157Arg P157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC17A5 Tyr119Stop Y119X not reviewed Insufficiently evaluated not reviewed unknown Array 2025 10758 0.188232 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 3 N - - SLC23A1 Gln526Lys Q526K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SLC23A1 Gln530Lys Q530K not reviewed Insufficiently evaluated not reviewed unknown Array rs72552250 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC24A1 Arg497Cys R497C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC25A41 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10744 0.00176843 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - SLC38A10 Ile136Val I136V not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.853 - - -4 - 2 N - - SLC39A8 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC45A4 Arg60Gly R60G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC4A1 Arg180His R180H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - SLC6A7 Arg530His R530H not reviewed Insufficiently evaluated not reviewed unknown Array rs73279867 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC7A2 Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - SLC7A2 Pro486Leu P486L not reviewed Insufficiently evaluated not reviewed unknown Array rs73560622 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - SLC7A4 Ser473Gly S473G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC7A6OS Tyr220Cys Y220C not reviewed Insufficiently evaluated not reviewed unknown Array rs11548855 523 10758 0.048615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - SLITRK4 Lys559Arg K559R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.453 - - -3 - 1 N - - SMG1 Ile710Thr I710T not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNAP91 Thr81Ala T81A not reviewed Insufficiently evaluated not reviewed unknown Array rs73486951 47 9724 0.0048334 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.13 - - 1 - 0 N - - SNAPC4 Glu66Lys E66K not reviewed Insufficiently evaluated not reviewed unknown Array rs73565183 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 0 - 2 N - - SNED1 Arg1289Gln R1289Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6721345 311 10118 0.0307373 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 5 - - SOAT1 Ile291Thr I291T not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SORCS2 Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - SPACA3 Arg12Lys R12K not reviewed Insufficiently evaluated not reviewed unknown Array rs34727343 110 10754 0.0102288 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.25 - - -3 - 1 N - - SPATA16 Ser44Thr S44T not reviewed Insufficiently evaluated not reviewed unknown Array 248 10758 0.0230526 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPATA5 Glu640Gln E640Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35343500 340 10758 0.0316044 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPDYE1 Arg244His R244H not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - SPINT1 Arg89His R89H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.112 - - 1 - 0 N - - SPINT3 Phe54Ser F54S not reviewed Insufficiently evaluated not reviewed unknown Array rs73305953 90 3234 0.0278293 7 0 7 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - SPTBN4 Val739Met V739M not reviewed Insufficiently evaluated not reviewed unknown Array 26 5696 0.00456461 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 0 - 0 N - - SPTBN4 Ile1564Ser I1564S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPTBN4 Ile240Ser I240S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPTBN5 Gln960His Q960H not reviewed Insufficiently evaluated not reviewed unknown Array rs56379301 245 10068 0.0243345 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SRBD1 Gln856Leu Q856L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.095 - - 5 Y 0 N - - SREBF2 Gly516Asp G516D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - SRGAP2 Arg566Gly R566G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRPX Ser413Phe S413F not reviewed Insufficiently evaluated not reviewed unknown Array rs35318931 467 8759 0.0533166 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 0 N - - SRRM2 Thr856Arg T856R not reviewed Insufficiently evaluated not reviewed unknown Array rs12185191 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - SRXN1 Pro24Arg P24R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SSPO Val813Met V813M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Pro2506Thr P2506T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Arg3801Gln R3801Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Leu4062Phe L4062F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK32A Lys58Met K58M not reviewed Insufficiently evaluated not reviewed unknown Array rs35852718 77 9912 0.00776836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 1 - 2 - - SUMF2 Lys356Glu K356E not reviewed Insufficiently evaluated not reviewed unknown Array 23 3234 0.00711193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUSD5 Tyr128Phe Y128F not reviewed Insufficiently evaluated not reviewed unknown Array rs72861038 88 9974 0.00882294 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - SVEP1 Gly3025Arg G3025R not reviewed Insufficiently evaluated not reviewed unknown Array rs73530980 10 9850 0.00101523 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - SYNE2 Arg1393Trp R1393W not reviewed Insufficiently evaluated not reviewed unknown Array rs17751301 501 9610 0.0521332 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.54 - - 7 Y 1 - 1 - - SYNJ2 Asp941Val D941V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - SYNM Pro266Ser P266S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYTL5 Ile275Val I275V not reviewed Insufficiently evaluated not reviewed unknown Array rs4827331 1308 8759 0.149332 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TAF1C Gly541Ser G541S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10720 0.00652985 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - TAF1C Gly635Ser G635S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 2 - - TAS1R3 Lys155Asn K155N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - TAS2R30 Leu48Val L48V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R30 Val44Ala V44A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS2R39 Asp107Asn D107N not reviewed Insufficiently evaluated not reviewed unknown Array rs61745613 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - -1 - 1 - 1 - - TAS2R46 Trp300Stop W300X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TAS2R46 Phe290Tyr F290Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - TBC1D16 Val522Met V522M not reviewed Insufficiently evaluated not reviewed unknown Array rs73440361 11 10754 0.00102287 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - TBC1D26 His59Arg H59R not reviewed Insufficiently evaluated not reviewed unknown Array rs2529980 1633 9408 0.173576 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TBPL2 Arg57Ser R57S not reviewed Insufficiently evaluated not reviewed unknown Array rs45612333 723 10720 0.067444 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 1 - 1 - - TBXA2R Arg342Leu R342L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - TCHH Gly1065Arg G1065R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCHH His676Gln H676Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TCOF1 Val518Ile V518I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TCOF1 Val595Ile V595I not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TCP10L2 Gln52Stop Q52X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCP10L2 Ser56Arg S56R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCP11L1 His54Asn H54N not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.658 - - 0 - 1 N - - TECPR2 Arg980Gly R980G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 6 Y 2 N - - TEK Val600Leu V600L not reviewed Insufficiently evaluated not reviewed unknown Array rs35030851 374 10758 0.0347648 5 0 5 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TEKT4 Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array 11 74 0.148649 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - TEKT4 Glu43Val E43V not reviewed Insufficiently evaluated not reviewed unknown Array 22 66 0.333333 20 0 20 0 0 - - - - - - - - - - - - - - - - 0.494 - - 5 Y 0 N - - TEKT4 Lys196Thr K196T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TEKT4 Thr198Ile T198I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 1 - 1 - - TEKT4 Met207Val M207V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEKT4 Ala246Thr A246T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10658 0.002158 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - TEKT4 Ala262Asp A262D not reviewed Insufficiently evaluated not reviewed unknown Array 12 24 0.5 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - TEKT4 Arg267Trp R267W not reviewed Insufficiently evaluated not reviewed unknown Array 12 24 0.5 11 0 11 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - TEKT4 Tyr304His Y304H not reviewed Insufficiently evaluated not reviewed unknown Array rs62146944 26 54 0.481481 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 1 - - TEKT4 His307Gln H307Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62147442 27 56 0.482143 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TESSP1 Ala53Ser A53S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - TESSP1 Trp229Arg W229R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TESSP2 Ser49Thr S49T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TET3 Arg577Gln R577Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57955681 13 9788 0.00132816 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 3 - 1 - - TG Pro118Leu P118L not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 7 Y 3 N - - TG Arg657Ser R657S not reviewed Insufficiently evaluated not reviewed unknown Array rs73347488 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.906 Y - 3 - 3 N - - TGFBI Arg514His R514H not reviewed Insufficiently evaluated not reviewed unknown Array rs73296968 4 9816 0.000407497 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - TGM3 Thr514Ala T514A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGM6 Val527Glu V527E not reviewed Insufficiently evaluated not reviewed unknown Array rs61729226 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - THADA Thr1187Ala T1187A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7578597 1501 9604 0.156289 17 0 19 0 0 - - - - - - - - - - - - - - Y Y 0.384 - - 1 - 2 N 10 - - THADA Glu695Asp E695D not reviewed Insufficiently evaluated not reviewed unknown Array 105 9540 0.0110063 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - THTPA Gly102Arg G102R not reviewed Insufficiently evaluated not reviewed unknown Array rs113443111 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TICAM1 Thr623Ile T623I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10724 0.000186497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.753 - - 3 - 1 N - - TLR7 Val222Asp V222D not reviewed Insufficiently evaluated not reviewed unknown Array rs55907843 37 8761 0.00422326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 1 - 1 - - TM4SF1 Gly126Arg G126R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - 6 Y 0 N - - TMEM104 Phe57Leu F57L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - TMEM106B Ser134Asn S134N not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM17 Ser20Thr S20T not reviewed Insufficiently evaluated not reviewed unknown Array rs72885228 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM189 Trp7Gly W7G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - TMEM189-UBE2V1 Trp7Gly W7G not reviewed Insufficiently evaluated not reviewed unknown Array rs2026757 406 5894 0.0688836 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 1 - - TMEM202 Arg23Trp R23W not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMEM209 Asn344Ser N344S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9748 0.000307755 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMEM63A Phe121Ile F121I not reviewed Insufficiently evaluated not reviewed unknown Array rs57306966 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.328 - - 2 - 2 - 1 - - TMPRSS11E Gln158His Q158H not reviewed Insufficiently evaluated not reviewed unknown Array rs2603188 86 108 0.796296 34 0 68 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMPRSS11E2 Gln158His Q158H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMPRSS5 Val125Met V125M not reviewed Insufficiently evaluated not reviewed unknown Array rs7939917 82 10270 0.00798442 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - TNN Ala70Thr A70T not reviewed Insufficiently evaluated not reviewed unknown Array rs41266076 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 9 - - TNRC18 Pro1946Thr P1946T not reviewed Insufficiently evaluated not reviewed unknown Array 53 7082 0.00748376 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - TNRC18 Ala1242Thr A1242T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743880 59 9942 0.00593442 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - TNXB Arg2704His R2704H not reviewed Insufficiently evaluated not reviewed unknown Array rs10947230 647 6602 0.0980006 9 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - TOMM70A Met225Val M225V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - TOP1MT Pro20Arg P20R not reviewed Insufficiently evaluated not reviewed unknown Array rs73382116 280 10156 0.0275699 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - TOX3 Ala219Gly A219G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TOX3 Ala224Gly A224G not reviewed Insufficiently evaluated not reviewed unknown Array rs73583125 115 10120 0.0113636 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TPSD1 Leu70Phe L70F not reviewed Insufficiently evaluated not reviewed unknown Array rs61739908 1518 10758 0.141104 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 1 N - - TRIB3 Val107Met V107M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - TRIM21 Gln88Lys Q88K not reviewed Insufficiently evaluated not reviewed unknown Array rs58403334 53 10280 0.00515564 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 2 - - TRIM46 Pro131Leu P131L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - 7 Y 1 N - - TRIM46 Arg342Gln R342Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61756357 108 10758 0.010039 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - TRIM64 Arg162Ser R162S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - TRIM64 Val238Met V238M not reviewed Insufficiently evaluated not reviewed unknown Array rs79824618 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM64 Glu242Val E242V not reviewed Insufficiently evaluated not reviewed unknown Array rs79666078 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRIM64 Gln405Arg Q405R not reviewed Insufficiently evaluated not reviewed unknown Array rs4108238 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TRIM65 Val222Ala V222A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - TRIM7 Pro73Ser P73S not reviewed Insufficiently evaluated not reviewed unknown Array rs2770946 398 4236 0.0939566 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TRIML2 Ala277Val A277V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRMT2A Val569Leu V569L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TRO Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array rs60674633 33 7958 0.00414677 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 8 - - TRPM5 Arg578Pro R578P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.216 - - 5 Y 2 - 2 - - TRPV1 Arg719Lys R719K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - TRPV1 Ser680Leu S680L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - TSNARE1 Ala310Val A310V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - TTC22 Leu366Pro L366P not reviewed Insufficiently evaluated not reviewed unknown Array rs12144325 433 3234 0.13389 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - TTC22 Arg363Stop R363X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTC24 Asn270Ser N270S not reviewed Insufficiently evaluated not reviewed unknown Array rs12090808 474 9666 0.0490379 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - TTLL10 Met357Lys M357K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTLL10 Met430Lys M430K not reviewed Insufficiently evaluated not reviewed unknown Array rs116321663 191 10754 0.0177608 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - TTLL3 Leu615Pro L615P not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - TTLL6 Pro224Leu P224L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTLL8 Leu91Trp L91W not reviewed Insufficiently evaluated not reviewed unknown Array rs59727397 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 3 - 1 - - TTMA Gln23His Q23H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTN Gly24857Arg G24857R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Gly24982Arg G24982R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Gly25049Arg G25049R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Gly31354Arg G31354R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Arg22235His R22235H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg22360His R22360H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg22427His R22427H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg28732His R28732H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ile19086Val I19086V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile19211Val I19211V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile19278Val I19278V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile25583Val I25583V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Arg18534His R18534H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg18659His R18659H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg18726His R18726H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg25031His R25031H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ser17233Arg S17233R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser17358Arg S17358R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser17425Arg S17425R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser23730Arg S23730R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Asn13983Ser N13983S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Asn14108Ser N14108S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Asn14175Ser N14175S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Asn20480Ser N20480S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val10594Met V10594M not reviewed Insufficiently evaluated not reviewed unknown Array rs73038314 82 9458 0.00866991 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Glu9074Lys E9074K not reviewed Insufficiently evaluated not reviewed unknown Array rs73038324 283 9184 0.0308145 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Pro5237Ser P5237S not reviewed Insufficiently evaluated not reviewed unknown Array rs73038342 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Val4040Met V4040M not reviewed Insufficiently evaluated not reviewed unknown Array rs66839174 27 9834 0.00274558 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile3716Val I3716V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile3841Val I3841V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile3908Val I3908V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Gln3447His Q3447H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TUBA3E Ile114Asn I114N not reviewed Insufficiently evaluated not reviewed unknown Array rs6760811 98 10758 0.0091095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.041 - - 7 Y 0 N - - TUBB8 Gly17Ser G17S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBGCP6 Ala1181Thr A1181T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TYK2 Pro1104Ala P1104A not reviewed Insufficiently evaluated not reviewed unknown Array rs34536443 310 10758 0.0288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - UHRF1 Val137Ala V137A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741143 75 10296 0.00728438 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UHRF1 Val150Ala V150A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UHRF2 Gly660Arg G660R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UNC13C Arg1004Gln R1004Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73405642 26 9750 0.00266667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - UNC5C Ala841Thr A841T not reviewed Insufficiently evaluated not reviewed unknown Array rs34585936 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 5 - - UPK1A Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - 1 - 1 N - - UROD Gln9His Q9H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.662 Y - -1 - 3 - 4 - - USP26 Leu364Phe L364F not reviewed Insufficiently evaluated not reviewed unknown Array rs35397110 2 92 0.0217391 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 9 - - USP32 Ser673Asn S673N not reviewed Insufficiently evaluated not reviewed unknown Array 39 10750 0.00362791 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.201 - - 0 - 1 N - - USP40 Asp878Val D878V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - USP40 Ala689Val A689V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP42 Ala993Asp A993D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP42 Pro1086Leu P1086L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP53 Ile81Leu I81L not reviewed Insufficiently evaluated not reviewed unknown Array 88 9776 0.00900164 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.715 - - -2 - 1 N - - VEZT Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array rs73374297 79 9644 0.00819162 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - VPS8 Ile990Leu I990L not reviewed Insufficiently evaluated not reviewed unknown Array 29 9474 0.00306101 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VPS8 Ile992Leu I992L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VWA3B Glu372Stop E372X not reviewed Insufficiently evaluated not reviewed unknown Array rs62154921 305 10116 0.0301503 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VWA5B2 Leu779Pro L779P not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VWA5B2 Asp883Tyr D883Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VWDE Pro1407Ala P1407A not reviewed Insufficiently evaluated not reviewed unknown Array 35 3234 0.0108225 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VWDE Lys1315Arg K1315R not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VWDE Ile702Met I702M not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR19 Val304Ile V304I not reviewed Insufficiently evaluated not reviewed unknown Array 392 9444 0.0415078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR27 Val525Met V525M not reviewed Insufficiently evaluated not reviewed unknown Array rs6938667 406 10026 0.0404947 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - WDR35 Arg119Cys R119C not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.353 - - 8 Y 1 N - - WDR60 Leu202Val L202V not reviewed Insufficiently evaluated not reviewed unknown Array rs73527702 89 9928 0.00896454 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR60 Pro347Leu P347L not reviewed Insufficiently evaluated not reviewed unknown Array rs73529717 25 10366 0.00241173 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR65 Ile322Met I322M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - -1 - 0 N - - WDR87 Glu1198Lys E1198K not reviewed Insufficiently evaluated not reviewed unknown Array 57 3234 0.0176252 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WRN Lys32Arg K32R not reviewed Insufficiently evaluated not reviewed unknown Array rs34477820 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 3 - 10 - - XIRP2 Val1162Ile V1162I not reviewed Insufficiently evaluated not reviewed unknown Array 158 9668 0.0163426 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.437 - - -4 - 1 N - - XPC Ser418Pro S418P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - XPC Ser455Pro S455P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - XRCC4 Thr85Met T85M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.7 - - 2 - 1 N - - ZAN Thr931Ile T931I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Leu955Pro L955P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Asn2329Lys N2329K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZAN Ala2617Val A2617V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBTB42 Arg326Gln R326Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73350336 10 3226 0.00309981 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - ZBTB7B Pro190Ser P190S not reviewed Insufficiently evaluated not reviewed unknown Array 164 10754 0.0152501 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - ZC3H12D Lys106Arg K106R not reviewed Insufficiently evaluated not reviewed unknown Array rs61997220 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.984 - - -3 - 2 - 1 - - ZC3H4 Ala1228Gly A1228G not reviewed Insufficiently evaluated not reviewed unknown Array rs309195 786 8166 0.0962528 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 - 3 - - ZC3HAV1 Arg295His R295H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZDHHC21 Glu87Lys E87K not reviewed Insufficiently evaluated not reviewed unknown Array rs61758381 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZDHHC3 His220Arg H220R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - ZFHX3 Lys3420Arg K3420R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10748 0.00427987 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFHX4 Ala1932Ser A1932S not reviewed Insufficiently evaluated not reviewed unknown Array rs73239807 40 9682 0.00413138 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - ZFP57 Arg187Cys R187C not reviewed Insufficiently evaluated not reviewed unknown Array 202 6618 0.0305228 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFR2 Ile718Met I718M not reviewed Insufficiently evaluated not reviewed unknown Array rs45465594 172 10330 0.0166505 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.943 - - -1 - 3 - 1 - - ZFYVE26 Ser615Phe S615F not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 5 Y 3 N - - ZMYM2 Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array rs73428008 2 10174 0.000196579 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ZNF12 Gly118Ser G118S not reviewed Insufficiently evaluated not reviewed unknown Array rs73331234 7 9548 0.000733137 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF20 Glu336Gln E336Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745731 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - ZNF208 Ser915Arg S915R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10486 0.00267023 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.734 - - 3 - 1 N - - ZNF225 Gln50Arg Q50R not reviewed Insufficiently evaluated not reviewed unknown Array rs34863330 57 10758 0.00529838 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.219 - - 0 - 2 - 3 - - ZNF225 Arg352His R352H not reviewed Insufficiently evaluated not reviewed unknown Array rs62623665 536 10730 0.0499534 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNF286B Arg353Lys R353K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF287 Tyr592Cys Y592C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF302 His15Gln H15Q not reviewed Insufficiently evaluated not reviewed unknown Array 285 9510 0.0299685 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF335 Phe723Val F723V not reviewed Insufficiently evaluated not reviewed unknown Array rs41305805 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.328 - - 3 - 1 N - - ZNF398 Arg351Ser R351S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF398 Arg522Ser R522S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZNF407 Ser1259Leu S1259L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10018 0.00449191 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 1 - 2 - - ZNF469 Ala429Thr A429T not reviewed Insufficiently evaluated not reviewed unknown Array 88 2868 0.0306834 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF469 Ala2475Glu A2475E not reviewed Insufficiently evaluated not reviewed unknown Array 188 3210 0.058567 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 0 N - - ZNF493 Leu460Phe L460F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - ZNF493 Leu588Phe L588F not reviewed Insufficiently evaluated not reviewed unknown Array 89 10754 0.00827599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF500 Thr412Ile T412I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10728 0.00288963 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - ZNF517 Val181Met V181M not reviewed Insufficiently evaluated not reviewed unknown Array rs62531506 1052 10714 0.0981893 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 2 - - ZNF541 Gly296Trp G296W not reviewed Insufficiently evaluated not reviewed unknown Array 80 3234 0.0247372 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - ZNF566 Ala172Thr A172T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - ZNF566 Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF578 Met89Val M89V not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF578 Met129Val M129V not reviewed Insufficiently evaluated not reviewed unknown Array rs73584860 89 10758 0.00827291 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF578 Tyr567Cys Y567C not reviewed Insufficiently evaluated not reviewed unknown Array rs73584871 85 10750 0.00790698 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF587 Gly322Arg G322R not reviewed Insufficiently evaluated not reviewed unknown Array rs115001254 697 10736 0.0649218 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF595 Thr229Lys T229K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF595 Glu232Lys E232K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF626 Arg423Lys R423K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF626 Lys417Arg K417R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10504 0.000190403 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - ZNF628 Glu909Asp E909D not reviewed Insufficiently evaluated not reviewed unknown Array rs73608719 224 10734 0.0208683 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF652 Ile333Val I333V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - -4 - 2 N - - ZNF655 Tyr268His Y268H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF655 Tyr303His Y303H not reviewed Insufficiently evaluated not reviewed unknown Array rs7783862 71 10750 0.00660465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF671 Gln144His Q144H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF676 Ile245Val I245V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF680 Asn525Asp N525D not reviewed Insufficiently evaluated not reviewed unknown Array rs17852813 484 10746 0.04504 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 1 - 2 - - ZNF681 Lys336Arg K336R not reviewed Insufficiently evaluated not reviewed unknown Array rs7245561 1587 10754 0.147573 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF71 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - ZNF714 Leu518Arg L518R not reviewed Insufficiently evaluated not reviewed unknown Array rs73537736 78 10746 0.00725851 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Lys840Stop K840X not reviewed Insufficiently evaluated not reviewed unknown Array 13 62 0.209677 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF717 His769Tyr H769Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF717 Cys518Tyr C518Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Arg517Pro R517P not reviewed Insufficiently evaluated not reviewed unknown Array 2 60 0.0333333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF717 Gly513Glu G513E not reviewed Insufficiently evaluated not reviewed unknown Array 2 82 0.0243902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Ser433Asn S433N not reviewed Insufficiently evaluated not reviewed unknown Array rs6671931 13 88 0.147727 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF721 Ala570Thr A570T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF764 Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array rs17850402 735 10640 0.0690789 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 - 3 - - ZNF764 Arg52Gln R52Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744716 165 10746 0.0153546 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ZNF799 Met214Thr M214T not reviewed Insufficiently evaluated not reviewed unknown Array rs8102416 737 10752 0.0685454 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 1 - - ZNF800 Thr389Lys T389K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF804A Ala1108Thr A1108T not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF81 Asn157Ser N157S not reviewed Insufficiently evaluated not reviewed unknown Array rs41312157 39 7596 0.00513428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 1 - 3 - - ZNF814 Asp404Glu D404E not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF841 Cys84Tyr C84Y not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ZNF844 Arg146His R146H not reviewed Insufficiently evaluated not reviewed unknown Array 38 3234 0.0117502 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - ZNF860 Arg627Cys R627C not reviewed Insufficiently evaluated not reviewed unknown Array rs4955217 69 3234 0.0213358 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - ZNF860 Arg627His R627H not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF98 His508Tyr H508Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10620 0.000470809 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF98 Ser304Asn S304N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF99 Arg762Met R762M not reviewed Insufficiently evaluated not reviewed unknown Array rs35012661 24 114 0.210526 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF99 Glu582Lys E582K not reviewed Insufficiently evaluated not reviewed unknown Array rs62119157 5 98 0.0510204 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 1 - 1 - - ZNF99 Asn456Ser N456S not reviewed Insufficiently evaluated not reviewed unknown Array 10 110 0.0909091 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 1 N - - ZNFX1 Ile1213Val I1213V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNHIT6 Gly9Arg G9R not reviewed Insufficiently evaluated not reviewed unknown Array rs17399721 624 10758 0.0580033 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZSCAN10 Ala694Ser A694S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10610 0.00405278 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - -1 - 2 N - - ZSCAN21 Val5Ile V5I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -4 - 1 N - - ZSCAN5A Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array 118 10204 0.0115641 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.396 - - 0 - 1 N - - ZSCAN5B Ser8Leu S8L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745809 74 3234 0.0228819 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - ZWILCH Lys337Arg K337R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -3 - 0 N - - ZXDA Pro47Leu P47L not reviewed Insufficiently evaluated not reviewed unknown Array 222 3436 0.06461 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ACP5 Val200Met V200M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229531 886 10756 0.0823726 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 1 - 7 - - ACP5 Val148Met V148M not reviewed Insufficiently evaluated not reviewed unknown Array rs2305799 994 10758 0.0923964 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.421 - - 0 - 0 N - - ADAM19 Gly4Ser G4S not reviewed Insufficiently evaluated not reviewed unknown Array rs11465228 381 6902 0.0552014 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 10 - - ADAMTS14 Pro1106Leu P1106L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - ADAMTS14 Pro1109Leu P1109L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736607 659 10758 0.0612567 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ADH7 Arg132His R132H not reviewed Insufficiently evaluated not reviewed unknown Array rs284797 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 10 - - ADSS Lys226Arg K226R not reviewed Insufficiently evaluated not reviewed unknown Array rs55648210 213 10752 0.0198103 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 2 - 1 - - AGAP7 Asp600Glu D600E not reviewed Insufficiently evaluated not reviewed unknown Array 3354 8444 0.397205 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.767 - - -2 - 0 N - - AKAP11 Asn934Ser N934S not reviewed Insufficiently evaluated not reviewed unknown Array rs41288309 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPK2 Glu1892Asp E1892D not reviewed Insufficiently evaluated not reviewed unknown Array rs34304827 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.819 - - -2 - 1 N - - ALPP Arg231Pro R231P not reviewed Insufficiently evaluated not reviewed unknown Array rs1048988 1866 10750 0.173581 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 10 - - ALPP Glu451Gly E451G not reviewed Insufficiently evaluated not reviewed unknown Array rs1048994 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 8 - - AMACR Met261Thr M261T not reviewed Insufficiently evaluated not reviewed unknown Array rs3195678 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AMTN Pro18Ser P18S not reviewed Insufficiently evaluated not reviewed unknown Array rs35426053 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 3 - 2 - 2 - - ANK3 Ile3117Val I3117V not reviewed Insufficiently evaluated not reviewed unknown Array rs28932171 855 10758 0.0794757 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 3 - - ANK3 His2885Gln H2885Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11599164 847 10754 0.0787614 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 6 - - ANKRD30B Arg843Cys R843C not reviewed Insufficiently evaluated not reviewed unknown Array 43 3234 0.0132962 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - ANKRD36B Thr771Met T771M not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - APOLD1 Arg10Leu R10L not reviewed Insufficiently evaluated not reviewed unknown Array 46 3230 0.0142415 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARSF His527Tyr H527Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1052638 694 8761 0.0792147 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ATG2B Pro247Ser P247S not reviewed Insufficiently evaluated not reviewed unknown Array rs61978568 97 9568 0.010138 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP10D Asn511Ser N511S not reviewed Insufficiently evaluated not reviewed unknown Array rs10003238 343 10758 0.0318832 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ATP2C2 Gln319Glu Q319E not reviewed Insufficiently evaluated not reviewed unknown Array rs62640932 20 10104 0.00197941 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATRN Ile426Thr I426T not reviewed Insufficiently evaluated not reviewed unknown Array rs17782078 427 10758 0.0396914 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 1 - 8 - - ATRN Arg1152Lys R1152K not reviewed Insufficiently evaluated not reviewed unknown Array rs3886999 426 10758 0.0395984 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 7 - - BARX2 Arg252His R252H not reviewed Insufficiently evaluated not reviewed unknown Array rs34520023 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAN Ser356Leu S356L not reviewed Insufficiently evaluated not reviewed unknown Array rs12065791 571 10758 0.0530768 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.754 - - 6 Y 1 - 4 - - BCAS4 Glu56Asp E56D not reviewed Insufficiently evaluated not reviewed unknown Array rs2272962 718 6398 0.112223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.738 - - -2 - 1 - 2 - - BCL10 Gly213Glu G213E not reviewed Insufficiently evaluated not reviewed unknown Array rs3768235 454 10758 0.0422012 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 1 N - - BEST4 Val433Leu V433L not reviewed Insufficiently evaluated not reviewed unknown Array rs59895800 459 5148 0.0891608 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BMP5 His2Tyr H2Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9475437 40 10750 0.00372093 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 1 - 10 - - BMP8A Ala140Val A140V not reviewed Insufficiently evaluated not reviewed unknown Array 432 8186 0.052773 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - BTBD12 Pro1677Ser P1677S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - C10ORF18 Asn556Ile N556I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731327 278 9692 0.0286835 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF43 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array rs35302179 122 10754 0.0113446 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - C15ORF2 Val160Gly V160G not reviewed Insufficiently evaluated not reviewed unknown Array rs34391654 88 10756 0.00818148 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C15ORF42 Ser923Cys S923C not reviewed Insufficiently evaluated not reviewed unknown Array rs16943377 97 9552 0.0101549 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - C16ORF38 His214Asn H214N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF38 Leu166Pro L166P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF92 Ala533Thr A533T not reviewed Insufficiently evaluated not reviewed unknown Array rs11264585 216 9996 0.0216086 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - C1QTNF9 Val301Met V301M not reviewed Insufficiently evaluated not reviewed unknown Array rs4589405 989 10758 0.0919316 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - C22ORF31 Pro13Leu P13L not reviewed Insufficiently evaluated not reviewed unknown Array rs41281611 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF69 Asp64Glu D64E not reviewed Insufficiently evaluated not reviewed unknown Array 384 3064 0.125326 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C3ORF33 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs9853408 587 9578 0.0612863 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 2 - - C5 Ser1310Asn S1310N not reviewed Insufficiently evaluated not reviewed unknown Array rs17610 354 10758 0.0329057 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5 Gln1043Lys Q1043K not reviewed Insufficiently evaluated not reviewed unknown Array rs41311887 34 10756 0.00316103 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 5 - - C5ORF49 Glu87Lys E87K not reviewed Insufficiently evaluated not reviewed unknown Array rs16879215 197 9554 0.0206196 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C8G Arg69Gln R69Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17614 178 10732 0.0165859 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.9 - - 0 - 3 - 4 - - C8ORF46 Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10310 0.00358875 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Arg1386Cys R1386C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - C9ORF84 Arg1425Cys R1425C not reviewed Insufficiently evaluated not reviewed unknown Array rs10981009 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - CCDC108 Asn1858Ser N1858S not reviewed Insufficiently evaluated not reviewed unknown Array rs11893183 357 9144 0.039042 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CCDC144A Glu1209Lys E1209K not reviewed Insufficiently evaluated not reviewed unknown Array rs3869489 1334 9470 0.140866 5 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CCDC61 Arg338Lys R338K not reviewed Insufficiently evaluated not reviewed unknown Array rs7271 889 9460 0.0939746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CCL4L1 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCL4L2 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 419 4360 0.0961009 2 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - CDGAP Ala1086Thr A1086T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELSR1 Pro2983Ala P2983A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741871 390 10748 0.0362858 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 2 - 2 N - - CELSR2 Thr2387Ala T2387A not reviewed Insufficiently evaluated not reviewed unknown Array rs17035649 230 10758 0.0213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 2 - 4 - - CENPJ Asp63His D63H not reviewed Insufficiently evaluated not reviewed unknown Array rs7336216 243 10758 0.0225878 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.135 - Y 3 - 2 - 1 - - CERKL Ala67Thr A67T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733527 151 10748 0.0140491 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHAF1B Lys506Gln K506Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230638 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.305 - - -2 - 2 - 4 - - CHAT Asp282Asn D282N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 4 - - CHAT Asp318Asn D318N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CHAT Asp400Asn D400N not reviewed Insufficiently evaluated not reviewed unknown Array rs8178991 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.202 Y Y -1 - 4 - 4 - - CHIA Arg35Trp R35W not reviewed Insufficiently evaluated not reviewed unknown Array rs61752461 141 10360 0.01361 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 3 - 5 - - CHST15 Asp230Glu D230E not reviewed Insufficiently evaluated not reviewed unknown Array rs34389704 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - CHTF18 Ser63Phe S63F not reviewed Insufficiently evaluated not reviewed unknown Array rs2277902 247 7804 0.0316504 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 1 - 2 - - CNBD1 Gln69Lys Q69K not reviewed Insufficiently evaluated not reviewed unknown Array rs16894901 215 9614 0.0223632 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 3 - 5 - - CNGA4 Glu553Val E553V not reviewed Insufficiently evaluated not reviewed unknown Array rs325706 113 10758 0.0105038 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - COG6 Met447Thr M447T not reviewed Insufficiently evaluated not reviewed unknown Array rs41286961 550 10758 0.0511247 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL20A1 Arg551His R551H not reviewed Insufficiently evaluated not reviewed unknown Array rs6089877 244 10040 0.0243028 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - COL21A1 Ala442Thr A442T not reviewed Insufficiently evaluated not reviewed unknown Array rs9475580 19 9650 0.00196891 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - COL9A1 Pro581Thr P581T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL9A1 Pro824Thr P824T not reviewed Insufficiently evaluated not reviewed unknown Array rs34119578 229 10758 0.0212865 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 10 - - COQ6 Ala49Ser A49S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743884 93 10746 0.00865438 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - CPAMD8 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745075 58 9888 0.00586569 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Asp2042His D2042H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - CTAGE4 Phe693Leu F693L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE5 Asn346Ser N346S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CTAGE5 Asn363Ser N363S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CTAGE5 Asn375Ser N375S not reviewed Insufficiently evaluated not reviewed unknown Array rs17109109 112 10616 0.0105501 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 2 - - CTNNA1 Pro219Ser P219S not reviewed Insufficiently evaluated not reviewed unknown Array rs28363406 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 5 - - CUL7 Ala871Val A871V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732148 211 10758 0.0196133 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 - Y 2 - 1 N - - CXORF65 Arg156His R156H not reviewed Insufficiently evaluated not reviewed unknown Array rs12009522 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - CYB5R4 Pro316Ser P316S not reviewed Insufficiently evaluated not reviewed unknown Array rs10080628 565 10758 0.0525191 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CYP2D6 Val136Ile V136I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs61736512 272 10104 0.02692 5 0 6 0 0 - - - - - - - - - - - - - - - Y - - - -4 - 3 N 10 - - DBNL Val152Met V152M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735009 151 10758 0.0140361 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - DCDC2 Pro152Ala P152A not reviewed Insufficiently evaluated not reviewed unknown Array rs33914824 451 10756 0.0419301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 3 - - DDX49 Arg413Trp R413W not reviewed Insufficiently evaluated not reviewed unknown Array rs16995781 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 3 - - DDX58 Arg546Gln R546Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61752945 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DEFB104A Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array 1808 10146 0.178198 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 1 - - DEFB104B Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - DEPDC5 Arg389Cys R389C not reviewed Insufficiently evaluated not reviewed unknown Array rs41311139 248 9758 0.025415 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 8 Y 0 N - - DMBT1 Asn322Asp N322D not reviewed Insufficiently evaluated not reviewed unknown Array rs1969620 366 9824 0.0372557 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.916 - - -1 - 3 - 2 - - DNAH6 Gly1694Ala G1694A not reviewed Insufficiently evaluated not reviewed unknown Array rs28375417 393 3232 0.121597 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - DNAH6 Val2898Ile V2898I not reviewed Insufficiently evaluated not reviewed unknown Array rs1192269 143 3234 0.0442177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.931 - - -4 - 3 - 1 - - DNAH7 Asn2459Lys N2459K not reviewed Insufficiently evaluated not reviewed unknown Array rs16841199 151 10040 0.0150398 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 3 - 3 - - DNAH7 Met2020Thr M2020T not reviewed Insufficiently evaluated not reviewed unknown Array rs10184131 107 9574 0.0111761 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 2 - - DNAH7 Pro1422Thr P1422T not reviewed Insufficiently evaluated not reviewed unknown Array rs168192 144 9664 0.0149007 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 3 - 1 - - DNAH7 Lys675Glu K675E not reviewed Insufficiently evaluated not reviewed unknown Array rs10198893 144 9474 0.0151995 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 1 - 2 - - DNAH7 Ala280Thr A280T not reviewed Insufficiently evaluated not reviewed unknown Array rs2375643 334 9480 0.0352321 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DSG1 Thr395Ser T395S not reviewed Insufficiently evaluated not reviewed unknown Array rs16961655 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 5 - - EFCAB5 Val256Ile V256I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - EFCAB5 Val312Ile V312I not reviewed Insufficiently evaluated not reviewed unknown Array rs28424187 42 9228 0.00455137 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - -4 - 0 N - - EFCAB5 Leu368Arg L368R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFCAB5 Leu424Arg L424R not reviewed Insufficiently evaluated not reviewed unknown Array rs28504322 53 9854 0.00537853 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - EFCAB5 Arg1274Thr R1274T not reviewed Insufficiently evaluated not reviewed unknown Array rs35724168 138 9594 0.014384 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.773 - - 3 - 2 - 2 - - ELMOD3 Arg325Leu R325L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ETNK2 Pro10Gln P10Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3737655 836 7692 0.108684 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 - 2 - - FAM164B Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - FAM172A Ser131Asn S131N not reviewed Insufficiently evaluated not reviewed unknown Array rs17083426 397 10758 0.0369028 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - FAM21A Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array rs55875820 3403 9254 0.367733 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - FAM22A Gly545Ser G545S not reviewed Insufficiently evaluated not reviewed unknown Array 5614 7294 0.769674 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM86B2 Glu82Lys E82K not reviewed Insufficiently evaluated not reviewed unknown Array 438 3226 0.135772 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - FARP2 Arg17His R17H not reviewed Insufficiently evaluated not reviewed unknown Array rs61739702 201 10758 0.0186838 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 3 - 1 - - FBXW5 Glu340Lys E340K not reviewed Insufficiently evaluated not reviewed unknown Array rs7850438 159 10746 0.0147962 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.565 - - 0 - 2 - 3 - - FCRL3 Pro660Leu P660L not reviewed Insufficiently evaluated not reviewed unknown Array rs944627 497 10758 0.0461982 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - FKBP15 Ala847Ser A847S not reviewed Insufficiently evaluated not reviewed unknown Array rs1128116 722 9696 0.0744637 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.306 - - -1 - 1 - 2 - - FLJ43080 His191Gln H191Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FMO1 Arg502Stop R502X not reviewed Insufficiently evaluated not reviewed unknown Array rs60639054 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 10 - - FOXD4L1 Lys49Gln K49Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2757970 685 10590 0.0646837 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 1 - - GBP2 Ser281Pro S281P not reviewed Insufficiently evaluated not reviewed unknown Array rs2230336 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - GFAP Arg430Cys R430C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - GGT1 Val272Ala V272A not reviewed Insufficiently evaluated not reviewed unknown Array rs4049829 1665 9768 0.170455 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 8 - - GGT1 Val495Met V495M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 0 - 0 N - - GNGT2 Gln17Arg Q17R not reviewed Insufficiently evaluated not reviewed unknown Array rs35638197 414 10758 0.038483 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - GNPTAB Ile348Leu I348L not reviewed Insufficiently evaluated not reviewed unknown Array rs7958709 154 10758 0.0143149 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -2 - 5 - 1 - - GOLGA6 Thr51Ser T51S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPD2 Lys453Gln K453Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35096779 433 10758 0.0402491 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - GPNMB Ser526Arg S526R not reviewed Insufficiently evaluated not reviewed unknown Array rs35878037 158 10758 0.0146867 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPNMB Ser538Arg S538R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.068 - - 3 - 0 N - - GPR37L1 Gly441Arg G441R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734417 39 10750 0.00362791 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR98 Val4198Met V4198M not reviewed Insufficiently evaluated not reviewed unknown Array rs2460169 172 9752 0.0176374 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GTF3C1 Arg1630His R1630H not reviewed Insufficiently evaluated not reviewed unknown Array rs61739285 268 10758 0.0249117 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GTSE1 Ala219Val A219V not reviewed Insufficiently evaluated not reviewed unknown Array 321 10758 0.0298383 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - GTSE1 Ala293Thr A293T not reviewed Insufficiently evaluated not reviewed unknown Array 326 10758 0.030303 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HELB Leu267Phe L267F not reviewed Insufficiently evaluated not reviewed unknown Array rs35138454 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 3 - 1 - - HLA-A Asp101Asn D101N not reviewed Insufficiently evaluated not reviewed unknown Array rs1136688 3189 10706 0.29787 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 4 - - HLA-DQB1 Gly157Ala G157A not reviewed Insufficiently evaluated not reviewed unknown Array rs1063322 4269 10154 0.420425 27 0 41 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HLTF Ile762Val I762V not reviewed Insufficiently evaluated not reviewed unknown Array rs34622270 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - HMGB1L1 Asn43Lys N43K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Gly2643Ser G2643S not reviewed Insufficiently evaluated not reviewed unknown Array rs4845748 414 4290 0.0965035 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HRNR Gly2308Cys G2308C not reviewed Insufficiently evaluated not reviewed unknown Array rs12126691 2010 8388 0.239628 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HRNR Gly1129Ser G1129S not reviewed Insufficiently evaluated not reviewed unknown Array rs71625164 3726 4760 0.782773 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HTR3A Arg344His R344H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 2 - 9 - - HTR3A Arg376His R376H not reviewed Insufficiently evaluated not reviewed unknown Array rs35815285 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 6 - - IL28A Tyr160His Y160H not reviewed Insufficiently evaluated not reviewed unknown Array rs59746524 1157 10670 0.108435 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IL9R Asn439Ser N439S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - IL9R Asn440Ser N440S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INF2 Gly1160Ser G1160S not reviewed Insufficiently evaluated not reviewed unknown Array rs9672065 194 10384 0.0186826 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - INSL4 Thr133Asn T133N not reviewed Insufficiently evaluated not reviewed unknown Array rs62638703 211 10758 0.0196133 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - INSL6 His135Arg H135R not reviewed Insufficiently evaluated not reviewed unknown Array rs34832229 71 10752 0.00660342 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.935 - - 1 - 3 - 1 - - IQCD Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array rs57468632 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 1 - - IQGAP2 Val647Leu V647L not reviewed Insufficiently evaluated not reviewed unknown Array rs35544895 104 10758 0.00966722 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD7-PLA2G4B Arg622His R622H not reviewed Insufficiently evaluated not reviewed unknown Array rs34807597 162 10728 0.0151007 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JMJD7-PLA2G4B Thr822Ile T822I not reviewed Insufficiently evaluated not reviewed unknown Array rs36126315 166 10758 0.0154304 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1377 Arg205Lys R205K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743062 237 10758 0.0220301 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - KIAA1586 Ile116Ser I116S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736730 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - KIAA1586 Ile716Val I716V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740375 906 10716 0.0845465 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 1 - 1 - - KIAA1683 Ile1096Thr I1096T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIAA1683 Ile1142Thr I1142T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIAA1683 Ile1329Thr I1329T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740689 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - KIAA1683 Arg1074Cys R1074C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746498 128 10732 0.0119269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - KIAA1683 Arg841Cys R841C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - KIAA1683 Arg887Cys R887C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - KIF17 Pro650Leu P650L not reviewed Insufficiently evaluated not reviewed unknown Array rs41310420 64 10662 0.00600263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL3 Arg149Ser R149S not reviewed Insufficiently evaluated not reviewed unknown Array 1019 8744 0.116537 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 3 - - KLC4 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 3 - 2 - - KLC4 Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array rs11558979 265 10758 0.0246328 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - KRT71 Gly90Arg G90R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734905 356 10758 0.0330917 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 3 - 1 - - KRTAP10-9 Pro87Leu P87L not reviewed Insufficiently evaluated not reviewed unknown Array rs62220926 1523 10730 0.141938 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KRTAP10-9 Tyr89Cys Y89C not reviewed Insufficiently evaluated not reviewed unknown Array rs62220927 1638 10732 0.152628 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRTAP4-7 Ser113Cys S113C not reviewed Insufficiently evaluated not reviewed unknown Array 83 3230 0.0256966 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - LGR5 His383Arg H383R not reviewed Insufficiently evaluated not reviewed unknown Array rs12303775 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 1 - 1 - 4 - - LILRA6 Val21Met V21M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB3 Arg20His R20H not reviewed Insufficiently evaluated not reviewed unknown Array 1953 6464 0.302135 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 2 - - LOC100130522 Thr61Ile T61I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC129293 Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LONP1 Val911Ile V911I not reviewed Insufficiently evaluated not reviewed unknown Array rs1062373 205 10758 0.0190556 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - LRP1B Val4264Leu V4264L not reviewed Insufficiently evaluated not reviewed unknown Array rs17386226 221 10758 0.0205429 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - LRRC48 Gly32Glu G32E not reviewed Insufficiently evaluated not reviewed unknown Array rs34046558 113 10108 0.0111793 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MFI2 Ala559Thr A559T not reviewed Insufficiently evaluated not reviewed unknown Array rs17129219 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 3 - 9 - - MFI2 Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729249 245 10758 0.0227737 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 1 - 1 - - MICAL2 Leu1106Pro L1106P not reviewed Insufficiently evaluated not reviewed unknown Array rs1027335 308 10758 0.0286299 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - MICALL2 Leu711Val L711V not reviewed Insufficiently evaluated not reviewed unknown Array rs11980797 14 128 0.109375 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 1 - 3 - - MOCOS Asn437Asp N437D not reviewed Insufficiently evaluated not reviewed unknown Array rs35264715 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - MPO Ile717Val I717V not reviewed Insufficiently evaluated not reviewed unknown Array rs2759 233 10758 0.0216583 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 1 - 10 - - MPZL3 Met155Val M155V not reviewed Insufficiently evaluated not reviewed unknown Array rs17121966 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.78 - - 0 - 2 - 2 - - MS4A14 Ile56Ser I56S not reviewed Insufficiently evaluated not reviewed unknown Array rs3217518 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.617 - - 5 Y 2 - 2 - - MTMR8 Ile615Thr I615T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746243 123 8760 0.0140411 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MUC13 Ser363Gly S363G not reviewed Insufficiently evaluated not reviewed unknown Array rs16836185 119 10756 0.0110636 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - MUC16 Ser5728Ala S5728A not reviewed Insufficiently evaluated not reviewed unknown Array rs61732905 77 10338 0.00744825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC20 Thr236Ile T236I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - MUC20 Thr271Ile T271I not reviewed Insufficiently evaluated not reviewed unknown Array rs2550232 3464 10042 0.344951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 - 3 - - MUC5AC Val1643Ile V1643I not reviewed Insufficiently evaluated not reviewed unknown Array rs56396424 174 9646 0.0180386 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO1G Pro403Leu P403L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740095 53 10758 0.00492657 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.133 - - 7 Y 0 N - - MYO9A Thr161Ile T161I not reviewed Insufficiently evaluated not reviewed unknown Array rs2929516 202 10758 0.0187767 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - NAV3 Val20Met V20M not reviewed Insufficiently evaluated not reviewed unknown Array rs61754235 119 9800 0.0121429 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - NBPF1 Cys320Gly C320G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.097 - - 7 Y 0 N - - NBPF10 Lys31Asn K31N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NOL10 Thr586Ala T586A not reviewed Insufficiently evaluated not reviewed unknown Array rs34359340 407 10758 0.0378323 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - NPHP3 Arg1305Cys R1305C not reviewed Insufficiently evaluated not reviewed unknown Array rs35485382 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 8 Y 3 N - - NRBP2 Leu154Pro L154P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NSD1 Arg335Leu R335L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NSD1 Arg604Leu R604L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744451 58 10756 0.00539234 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - NTRK1 Thr207Met T207M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NTRK1 Thr237Met T237M not reviewed Insufficiently evaluated not reviewed unknown Array rs55909005 168 10022 0.0167631 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.431 Y Y 2 - 3 N - - ODF2 Thr686Ser T686S not reviewed Insufficiently evaluated not reviewed unknown Array rs16930426 278 10758 0.0258412 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 4 - - OR11H12 Val89Ala V89A not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.296 - - 2 - 1 N - - OR11H12 Lys105Thr K105T not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - OR13C2 Leu69Met L69M not reviewed Insufficiently evaluated not reviewed unknown Array rs57169158 2 74 0.027027 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.422 - - -3 - 1 N - - OR1F1 Val126Met V126M not reviewed Insufficiently evaluated not reviewed unknown Array rs8045183 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 2 - 3 - - OR2S2 Val287Ala V287A not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 2 - 1 - 4 - - OR51A4 Ser218Phe S218F not reviewed Insufficiently evaluated not reviewed unknown Array rs12271991 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.396 - - 5 Y 1 N - - OR6C70 Asp311Glu D311E not reviewed Insufficiently evaluated not reviewed unknown Array rs7295538 4 124 0.0322581 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR6K2 Leu156Val L156V not reviewed Insufficiently evaluated not reviewed unknown Array rs423141 335 10758 0.0311396 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 3 - 2 - - OR6K2 Arg6Gln R6Q not reviewed Insufficiently evaluated not reviewed unknown Array rs413029 304 10704 0.0284006 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 2 - - OSBPL5 Thr90Ile T90I not reviewed Insufficiently evaluated not reviewed unknown Array rs6578323 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - 3 - 2 - 3 - - PAX3 Thr314Lys T314K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PAX3 Thr315Lys T315K not reviewed Insufficiently evaluated not reviewed unknown Array rs2234675 294 10758 0.0273285 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 8 - - PCDHB9 Gln635Arg Q635R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - PDGFRA Arg374Ser R374S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735622 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - PEX6 Val882Ile V882I not reviewed Insufficiently evaluated not reviewed unknown Array rs2274516 222 10758 0.0206358 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 3 - - PHACTR2 Asn196Lys N196K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHACTR2 Asn207Lys N207K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746200 58 9582 0.00605302 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1 Thr1424Ala T1424A not reviewed Insufficiently evaluated not reviewed unknown Array rs2239671 1 10740 9.3109e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 1 - 2 N - - PKDREJ Val26Ala V26A not reviewed Insufficiently evaluated not reviewed unknown Array rs7293071 67 1116 0.0600358 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 2 - - PLA2G4B Arg391His R391H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PLA2G4B Thr591Ile T591I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - PLCB2 Arg598Cys R598C not reviewed Insufficiently evaluated not reviewed unknown Array rs61755438 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PNPO Arg116Gln R116Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17679445 566 10758 0.052612 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.953 Y - 0 - 3 - 2 - - POLDIP2 Ser28Gly S28G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POTEC Thr340Met T340M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POTEC His66Arg H66R not reviewed Insufficiently evaluated not reviewed unknown Array 89 3234 0.0275201 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - POTEH Leu416Ser L416S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPARGC1B Arg330Trp R330W not reviewed Insufficiently evaluated not reviewed unknown Array rs45470697 211 10758 0.0196133 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPARGC1B Ser389Tyr S389Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45519432 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPIAL4G Ile6Val I6V not reviewed Insufficiently evaluated not reviewed unknown Array rs7521153 1 7816 0.000127942 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRAMEF18 Trp315Arg W315R not reviewed Insufficiently evaluated not reviewed unknown Array 5205 5468 0.951902 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRAMEF18 Asp306Glu D306E not reviewed Insufficiently evaluated not reviewed unknown Array 5505 5724 0.96174 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRAMEF19 Trp315Arg W315R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAMEF19 Asp306Glu D306E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRAMEF2 Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array 216 10216 0.0211433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PRDM2 Ser1024Thr S1024T not reviewed Insufficiently evaluated not reviewed unknown Array rs41269807 337 10758 0.0313255 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRDM2 Ser823Thr S823T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRODH Trp185Stop W185X not reviewed Insufficiently evaluated not reviewed unknown Array 645 10758 0.0599554 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 2 N - - PRSS2 Asp153His D153H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - PTCD1 Arg117Trp R117W not reviewed Insufficiently evaluated not reviewed unknown Array rs34943973 480 10758 0.044618 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.057 - - 7 Y 1 - 1 - - R3HDML Phe15Cys F15C not reviewed Insufficiently evaluated not reviewed unknown Array rs11699901 1131 10750 0.105209 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.44 - - 4 Y 1 - 3 - - RECQL4 Pro766Arg P766R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - RFPL4A Asp43Asn D43N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIMBP3B Arg1484Lys R1484K not reviewed Insufficiently evaluated not reviewed unknown Array 5 72 0.0694444 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RIMBP3C Arg1484Lys R1484K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RNF151 Val66Ile V66I not reviewed Insufficiently evaluated not reviewed unknown Array rs62617081 423 9864 0.0428832 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - RNF151 His130Gln H130Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45488492 449 9962 0.0450713 7 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 3 - 1 - - RNF151 Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array rs62617079 399 9910 0.0402624 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - ROBO3 Arg1367Gln R1367Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56085444 67 9958 0.00672826 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ROPN1L Ser189Tyr S189Y not reviewed Insufficiently evaluated not reviewed unknown Array rs36124677 116 10758 0.0107827 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - RRN3 Cys274Phe C274F not reviewed Insufficiently evaluated not reviewed unknown Array rs2966183 869 10758 0.0807771 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.56 - - 4 Y 0 N - - RYR3 Ser2881Thr S2881T not reviewed Insufficiently evaluated not reviewed unknown Array rs61996340 131 9892 0.013243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SCARF1 Ser498Leu S498L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - SERINC2 Val369Leu V369L not reviewed Insufficiently evaluated not reviewed unknown Array rs33956499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINB6 Val346Ile V346I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737420 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SFTPD Leu123Val L123V not reviewed Insufficiently evaluated not reviewed unknown Array rs17878336 321 10758 0.0298383 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHROOM2 Gly493Val G493V not reviewed Insufficiently evaluated not reviewed unknown Array rs61738461 66 8739 0.00755235 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SHROOM3 Thr1481Pro T1481P not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC1A3 Glu219Asp E219D not reviewed Insufficiently evaluated not reviewed unknown Array rs2032892 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - SLC26A7 Tyr571Ser Y571S not reviewed Insufficiently evaluated not reviewed unknown Array rs34411388 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC5A1 Asn51Ser N51S not reviewed Insufficiently evaluated not reviewed unknown Array rs17683011 553 10758 0.0514036 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - SLC6A12 Pro598Ser P598S not reviewed Insufficiently evaluated not reviewed unknown Array rs629311 336 10754 0.0312442 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC6A5 Ala132Gly A132G not reviewed Insufficiently evaluated not reviewed unknown Array rs34243519 229 10758 0.0212865 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.004 - Y 1 - 1 N - - SLC6A5 Thr167Lys T167K not reviewed Insufficiently evaluated not reviewed unknown Array rs61736603 226 10758 0.0210076 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.021 - Y 3 - 1 N - - SORBS1 Tyr275Cys Y275C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORBS1 Tyr316Cys Y316C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORBS1 Tyr370Cys Y370C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORBS1 Tyr407Cys Y407C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORBS1 Tyr485Cys Y485C not reviewed Insufficiently evaluated not reviewed unknown Array rs35808802 448 10758 0.0416434 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORBS1 Tyr507Cys Y507C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPATA16 Asn50Ser N50S not reviewed Insufficiently evaluated not reviewed unknown Array rs16846624 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 3 - 3 - - SPEG Gln1323His Q1323H not reviewed Insufficiently evaluated not reviewed unknown Array rs55876679 7 10156 0.000689247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPINK5 Ile588Met I588M not reviewed Insufficiently evaluated not reviewed unknown Array rs35877540 87 9968 0.00872793 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SPINT1 Thr142Arg T142R not reviewed Insufficiently evaluated not reviewed unknown Array rs12323939 408 10758 0.0379253 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 3 - - SPTA1 Ala957Val A957V not reviewed Insufficiently evaluated not reviewed unknown Array rs34706737 288 9600 0.03 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SPTBN5 Leu2646Phe L2646F not reviewed Insufficiently evaluated not reviewed unknown Array rs61753581 94 9782 0.00960949 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTBN5 Arg1319Gln R1319Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61748710 119 10574 0.011254 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO His3689Tyr H3689Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSPO Ala3897Gly A3897G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SYNE1 Asp5034Asn D5034N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE1 Asp5105Asn D5105N not reviewed Insufficiently evaluated not reviewed unknown Array rs35493783 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y -1 - 2 N - - TAS2R5 Pro113Leu P113L not reviewed Insufficiently evaluated not reviewed unknown Array rs2234014 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 3 - 5 - - TBL2 Val345Ile V345I not reviewed Insufficiently evaluated not reviewed unknown Array rs35607697 398 10758 0.0369957 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.567 - - -4 - 1 N - - TCEAL1 Arg5Cys R5C not reviewed Insufficiently evaluated not reviewed unknown Array rs34421776 51 8535 0.00597539 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 3 - 3 - - TDGF1 Arg111Gly R111G not reviewed Insufficiently evaluated not reviewed unknown Array rs34501971 265 10758 0.0246328 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 3 - 6 - - TIMELESS Phe1060Leu F1060L not reviewed Insufficiently evaluated not reviewed unknown Array rs61748694 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TIMELESS Arg905Trp R905W not reviewed Insufficiently evaluated not reviewed unknown Array rs61753653 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - TMF1 Cys448Tyr C448Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34428015 161 9660 0.0166667 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - TPSAB1 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17134743 1014 10736 0.0944486 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - TPSAB1 Val29Ala V29A not reviewed Insufficiently evaluated not reviewed unknown Array 1079 10744 0.100428 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRMU Arg398Cys R398C not reviewed Insufficiently evaluated not reviewed unknown Array rs34152016 401 10758 0.0372746 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.057 Y - 8 Y 1 N - - TRO His799Pro H799P not reviewed Insufficiently evaluated not reviewed unknown Array rs61732500 194 8673 0.0223683 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTLL2 Ser530Leu S530L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732370 84 10758 0.00780814 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTRAP Asn89Ser N89S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBGCP6 Ala674Val A674V not reviewed Insufficiently evaluated not reviewed unknown Array rs35446002 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - TYK2 Gly363Ser G363S not reviewed Insufficiently evaluated not reviewed unknown Array rs2304255 627 10758 0.0582822 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UHRF1BP1L Ile1175Val I1175V not reviewed Insufficiently evaluated not reviewed unknown Array rs17029945 253 10758 0.0235174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - UNC45B Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array rs35749208 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 3 - 3 - - UNC5D Arg728Lys R728K not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - -3 - 2 - 3 - - UNC93B1 Ala519Gly A519G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - UPK2 Ala47Ser A47S not reviewed Insufficiently evaluated not reviewed unknown Array rs3886020 438 10758 0.0407139 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.882 - - -1 - 3 - 2 - - USP3 Pro360Thr P360T not reviewed Insufficiently evaluated not reviewed unknown Array rs34776764 310 10758 0.0288158 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VNN1 Ile373Thr I373T not reviewed Insufficiently evaluated not reviewed unknown Array rs35938565 90 10758 0.00836587 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 1 - 2 - - VPS13C Thr499Met T499M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - VPS13C Thr542Met T542M not reviewed Insufficiently evaluated not reviewed unknown Array rs35942317 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.347 - - 2 - 1 N - - VWA5A Ser202Gly S202G not reviewed Insufficiently evaluated not reviewed unknown Array rs35496433 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 1 - 2 - - XDH Arg1296Trp R1296W not reviewed Insufficiently evaluated not reviewed unknown Array rs45564939 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.954 Y - 7 Y 4 - 2 - - ZFP2 Gln113His Q113H not reviewed Insufficiently evaluated not reviewed unknown Array rs28678700 147 10756 0.0136668 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 3 - 3 - - ZFR2 Arg521Cys R521C not reviewed Insufficiently evaluated not reviewed unknown Array rs61742027 238 10096 0.0235737 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - ZMYND17 Leu417Pro L417P not reviewed Insufficiently evaluated not reviewed unknown Array rs11591720 124 10756 0.0115284 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - 7 Y 2 - 2 - - ZNF224 His251Gln H251Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7508149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - ZNF282 Arg670Gln R670Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11547158 507 7438 0.0681635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - ZNF322A Gly329Val G329V not reviewed Insufficiently evaluated not reviewed unknown Array 1348 10684 0.12617 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.77 - - 8 Y 0 N - - ZNF415 Asn486Thr N486T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF415 Asn499Thr N499T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733666 286 10758 0.0265849 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF785 Arg212Cys R212C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745796 131 10756 0.0121792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF81 Ala213Glu A213E not reviewed Insufficiently evaluated not reviewed unknown Array rs537825 437 7639 0.0572064 5 0 8 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 - 3 - - ZNF835 Gly352Asp G352D not reviewed Insufficiently evaluated not reviewed unknown Array rs12610410 8 124 0.0645161 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.948 - - 4 Y 1 N - - ZNF839 Arg698Trp R698W not reviewed Insufficiently evaluated not reviewed unknown Array rs35472059 7 10264 0.000681995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FGFR1 Pro772Ser P772S pathogenic Insufficiently evaluated pathogenic dominant Array rs56234888 2 128 0.015625 2 0 2 1 1 - - - - - - - - - - - - Y - - - 0.025 Y Y 3 - 3 - 5 - - TGM1 Glu520Gly E520G pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 69 10756 0.00641502 1 0 1 2 2 3 Y 1 Y 0 Y 1 Y 3 Y 3 Y Y - - - 0.987 Y Y 6 Y Autosomal Recessive Congenital Ichthyosis 2 238 0 50 INF 5 - 2 1 0 This variant was found in three individuals with lamellar ichthyosis (two homozygous and one compound het.) in two publications, but insufficient controls makes it difficult to assess significance. AR Gln58Leu Q58L not reviewed Insufficiently evaluated not reviewed unknown Array 5 8471 0.000590249 0 0 0 1 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 10 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs227731 80 128 0.625 49 0 75 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17760296 17 128 0.132812 15 0 17 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7078160 34 128 0.265625 24 0 30 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7590268 30 128 0.234375 21 0 25 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9574565 77 126 0.611111 42 0 65 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1258763 67 124 0.540323 39 0 56 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9302752 83 128 0.648438 48 0 69 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6478108 97 128 0.757812 50 0 78 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs42490 69 126 0.547619 41 0 61 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs602875 13 82 0.158537 12 0 13 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs40457 70 128 0.546875 43 0 61 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12899618 14 128 0.109375 11 0 11 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2395730 77 128 0.601562 45 0 61 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3995090 47 128 0.367188 30 0 39 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12504628 33 128 0.257812 19 0 24 1 1 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10516526 5 126 0.0396825 4 0 4 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N 10 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4952590 32 128 0.25 23 0 27 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs941576 51 124 0.41129 36 0 46 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs766432 100 128 0.78125 52 0 85 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9376092 37 128 0.289062 26 0 30 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2071348 26 128 0.203125 18 0 20 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9263739 17 128 0.132812 13 0 14 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2395185 31 112 0.276786 20 0 23 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2108225 70 124 0.564516 43 0 62 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17085007 16 128 0.125 11 0 12 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10975003 51 128 0.398438 37 0 50 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6584283 72 128 0.5625 46 0 65 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9858542 3013 10758 0.280071 25 0 31 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7554511 29 128 0.226562 20 0 25 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9268877 75 122 0.614754 42 0 64 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6426833 72 128 0.5625 67 0 93 1 1 - - - - 4 - - - 2 - - - - - Y Y - - - - - 2 N - - The regular variant at this position is a (G). The (A) variant results in a nonfunctional CYP2D6 protein. This allele is also known as CYP2D6*4. These A/A homozygotes have the so called 'poor metabolizer' (PM) phenotype, and are at an increased risk of bradycardia (odds ratio of 3.86, CI: 1.68-8.86, p = 0.0014). pathogenic Insufficiently evaluated pathogenic unknown Array rs9548988 61 128 0.476562 40 0 53 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6017342 94 126 0.746032 49 0 77 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1728785 106 126 0.84127 52 0 92 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs886774 94 128 0.734375 54 0 85 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10781500 39 128 0.304688 31 0 34 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3024493 14 128 0.109375 9 0 9 0 0 - 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- - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4756846 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs297325 26 126 0.206349 14 0 17 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9400317 119 128 0.929688 55 0 106 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17067123 27 128 0.210938 19 0 20 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12979860 43 112 0.383929 28 0 39 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4132601 29 128 0.226562 17 0 21 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2239633 47 128 0.367188 29 0 35 0 0 - 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- - - - - - - - - - - - - Y - - - - - - 1 N - - This is a (intronic) C/T variation in the ZNF423 gene which has bee ssociated with inattentive symptoms. pathogenic Insufficiently evaluated pathogenic unknown Array rs7495052 56 128 0.4375 33 0 45 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7172689 20 122 0.163934 17 0 18 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1471225 56 128 0.4375 31 0 45 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs478597 45 128 0.351562 32 0 38 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17079773 12 128 0.09375 10 0 11 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11786458 38 128 0.296875 28 0 35 0 0 - - - - - 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- - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9480865 19 126 0.150794 16 0 18 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N 10 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs261902 103 128 0.804688 54 0 85 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1927457 45 128 0.351562 31 0 36 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs716595 17 128 0.132812 15 0 17 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11957313 26 128 0.203125 19 0 22 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10492972 42 126 0.333333 28 0 35 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1333040 79 128 0.617188 50 0 69 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs700651 80 112 0.714286 42 0 71 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10958409 27 128 0.210938 25 0 25 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9298506 27 128 0.210938 18 0 19 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1564282 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N 10 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10260404 35 128 0.273438 29 0 32 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs947474 99 128 0.773438 54 0 85 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17696736 25 128 0.195312 35 0 43 2 2 - - - - - - - - - - - - - - Y Y - - - - - 2 N 10 - - This is a A/G variation in the NAA25 gene (intronic) on human chromosome 12. Associated with: Type 1 diabetes. pathogenic Insufficiently evaluated pathogenic unknown Array rs9272346 6 40 0.15 3 0 4 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6679677 9 128 0.0703125 8 0 9 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2542151 115 128 0.898438 55 0 98 2 2 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2165738 65 128 0.507812 36 0 55 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs416603 62 128 0.484375 36 0 52 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1051730 2901 10758 0.26966 19 0 22 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs402710 3398 9224 0.368387 29 0 34 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs8042374 45 128 0.351562 35 0 45 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs401681 50 128 0.390625 36 0 45 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11159647 35 128 0.273438 24 0 31 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3826656 92 128 0.71875 48 0 77 2 2 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10229603 39 128 0.304688 29 0 33 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7297018 118 128 0.921875 54 0 100 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9512900 19 128 0.148438 13 0 16 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10492664 32 128 0.25 22 0 27 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7236632 100 128 0.78125 49 0 86 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs701157 58 128 0.453125 38 0 50 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs789560 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N 8 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10797919 4727 10758 0.439394 44 0 58 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10831284 89 128 0.695312 50 0 73 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2764980 62 128 0.484375 34 0 52 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10815798 48 128 0.375 36 0 44 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs931812 24 128 0.1875 18 0 21 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1644305 47 128 0.367188 30 0 39 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1521882 96 128 0.75 54 0 88 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1951082 59 128 0.460938 39 0 55 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1557488 103 128 0.804688 53 0 90 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4533251 83 106 0.783019 42 0 70 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1291846 9 128 0.0703125 11 0 12 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1381102 53 128 0.414062 33 0 43 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs16973500 24 128 0.1875 14 0 15 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4889240 53 126 0.420635 33 0 41 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2826340 21 128 0.164062 17 0 18 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2180233 102 120 0.85 48 0 84 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6427356 56 128 0.4375 34 0 47 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6733379 93 128 0.726562 51 0 77 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7595103 95 124 0.766129 49 0 79 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1635852 45 128 0.351562 29 0 38 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3129934 101 124 0.814516 49 0 84 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2180439 80 128 0.625 44 0 68 1 1 - - - - 3 Y - - - - - - - - Y Y - - - - - 2 N - - positively linked to male pattern baldness pathogenic Insufficiently evaluated pathogenic unknown Array rs6625163 57 92 0.619565 35 0 68 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1160312 72 128 0.5625 40 0 58 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs801114 66 128 0.515625 43 0 62 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7538876 30 126 0.238095 23 0 24 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4962153 107 128 0.835938 53 0 88 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2281135 28 128 0.21875 21 0 25 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9467160 26 126 0.206349 23 0 25 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12355784 48 128 0.375 28 0 38 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1780324 61 128 0.476562 35 0 52 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs657152 48 128 0.375 33 0 40 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4820599 60 128 0.46875 44 0 61 1 1 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - May be associated with the pancreatic cancer risk. pathogenic Insufficiently evaluated pathogenic unknown Array rs11597390 40 128 0.3125 26 0 34 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1169313 41 128 0.320312 27 0 35 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10761779 48 128 0.375 29 0 39 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9803659 46 128 0.359375 31 0 40 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10758593 65 128 0.507812 43 0 53 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3757247 52 128 0.40625 30 0 43 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9976767 61 128 0.476562 42 0 56 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs8035957 61 126 0.484127 39 0 52 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1983853 19 128 0.148438 18 0 21 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs220470 82 128 0.640625 44 0 69 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs515910 60 128 0.46875 42 0 55 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs412050 24 128 0.1875 18 0 20 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2502731 78 128 0.609375 47 0 67 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2281597 116 128 0.90625 52 0 96 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10983238 22 128 0.171875 17 0 20 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7175404 44 128 0.34375 34 0 38 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2677744 82 128 0.640625 45 0 69 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs16928529 59 128 0.460938 34 0 46 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2199161 94 128 0.734375 52 0 82 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs864643 43 128 0.335938 32 0 43 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2587695 66 112 0.589286 36 0 54 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11243897 43 128 0.335938 33 0 39 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3799977 44 128 0.34375 30 0 37 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11646411 15 128 0.117188 9 0 12 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2842643 90 128 0.703125 50 0 84 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10514604 72 124 0.580645 44 0 61 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7995215 98 126 0.777778 49 0 84 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2241685 23 128 0.179688 17 0 21 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs469727 47 128 0.367188 30 0 39 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4964805 42 128 0.328125 26 0 34 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2242073 18 128 0.140625 14 0 14 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1555322 23 128 0.179688 18 0 20 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10786284 52 128 0.40625 41 0 51 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2237349 75 128 0.585938 46 0 68 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7164335 49 0 78 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2360997 105 128 0.820312 51 0 88 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4875598 78 128 0.609375 47 0 69 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4714261 30 128 0.234375 22 0 25 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1161463 76 126 0.603175 41 0 64 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10049246 97 128 0.757812 52 0 85 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2212361 23 122 0.188525 18 0 19 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2825388 52 128 0.40625 35 0 44 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs8073783 46 128 0.359375 28 0 37 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs604381 68 126 0.539683 48 0 60 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs719593 23 128 0.179688 15 0 16 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs893971 33 128 0.257812 24 0 31 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4321143 30 128 0.234375 23 0 25 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs16880441 7 128 0.0546875 5 0 8 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17116334 19 128 0.148438 16 0 16 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs13188771 18 128 0.140625 12 0 14 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17664267 12 128 0.09375 8 0 10 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2282301 37 110 0.336364 28 0 34 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2395528 53 66 0.80303 33 0 57 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9990174 35 128 0.273438 27 0 29 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs332034 21 128 0.164062 20 0 21 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1789891 10 128 0.078125 9 0 9 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6500744 59 128 0.460938 41 0 53 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1165205 84 128 0.65625 48 0 76 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs727153 89 128 0.695312 50 0 77 1 1 - - - - 2 Y - - - - - - - - Y Y - - - - - 2 N - - Associated with LOAD (late Onset Alzheimer's disease) . pathogenic Insufficiently evaluated pathogenic unknown Array rs6859 65 126 0.515873 43 0 58 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs5770917 8 120 0.0666667 7 0 7 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11134178 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9627183 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7703051 51 128 0.398438 36 0 45 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9642880 73 128 0.570312 44 0 66 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs710521 25 128 0.195312 21 0 23 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6457620 64 116 0.551724 37 0 52 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6920220 15 128 0.117188 16 0 17 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs42041 19 128 0.148438 16 0 18 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1678542 59 128 0.460938 36 0 46 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3890745 61 128 0.476562 39 0 49 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4750316 99 128 0.773438 53 0 86 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4810485 99 128 0.773438 51 0 89 2 2 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2812378 93 128 0.726562 52 0 79 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7595412 121 128 0.945312 55 0 104 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs492602 5294 10758 0.492099 37 0 47 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6085920 92 128 0.71875 46 0 78 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17065323 12 128 0.09375 8 0 9 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 Y 7 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4771450 78 126 0.619048 47 0 70 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4668338 110 128 0.859375 51 0 92 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6442522 64 118 0.542373 39 0 55 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3776331 95 128 0.742188 53 0 83 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12883384 71 122 0.581967 41 0 60 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2349775 109 128 0.851562 52 0 95 1 1 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - associated with Neuroticism pathogenic Insufficiently evaluated pathogenic unknown Array rs2705293 106 128 0.828125 53 0 89 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs872071 42 128 0.328125 26 0 34 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7176508 82 128 0.640625 48 0 68 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11083846 1972 10758 0.183305 9 0 9 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17483466 13 126 0.103175 13 0 15 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs735665 11 128 0.0859375 11 0 11 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs13397985 13 128 0.101562 11 0 12 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs5743289 12 128 0.09375 9 0 11 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - rs5743289 is a C/T variation in the NOD2 gene (intronic) on human chromosome 16, associated with Crohn's disease. pathogenic Insufficiently evaluated pathogenic unknown Array rs2836878 28 128 0.21875 17 0 22 2 2 - - - - 5 Y - - - - - - - - Y Y - - - - - 2 N - - Associated with Inflammatory bowel disease, Chron's disease. pathogenic Insufficiently evaluated pathogenic unknown Array rs6478109 95 128 0.742188 49 0 76 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs477515 13 98 0.132653 9 0 10 0 0 - 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- - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12949531 28 128 0.21875 22 0 23 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs5029939 21 128 0.164062 14 0 18 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17039212 25 128 0.195312 18 0 20 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3821236 33 128 0.257812 23 0 29 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2618476 40 128 0.3125 25 0 34 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11150610 48 128 0.375 33 0 44 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2313132 119 128 0.929688 54 0 100 0 0 - 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- - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6138150 16 124 0.129032 11 0 11 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs13393173 19 128 0.148438 16 0 19 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs507666 17 128 0.132812 11 0 13 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs281437 36 128 0.28125 23 0 27 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1934951 41 128 0.320312 30 0 35 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10995271 46 128 0.359375 27 0 37 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2301436 53 126 0.420635 35 0 42 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs744166 67 128 0.523438 42 0 62 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7746082 16 128 0.125 12 0 16 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2274910 3551 6172 0.57534 42 0 60 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9286879 49 128 0.382812 27 0 37 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11584383 31 128 0.242188 25 0 29 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6908425 105 128 0.820312 54 0 89 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1456893 92 128 0.71875 54 0 81 0 0 - 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- - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6939340 82 126 0.650794 42 0 71 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9834373 27 128 0.210938 22 0 28 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs169082 61 126 0.484127 37 0 52 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9461688 46 126 0.365079 29 0 36 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6455128 101 128 0.789062 55 0 87 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4541776 50 0 74 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9402515 20 128 0.15625 11 0 16 0 0 - 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- - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3816587 67 128 0.523438 40 0 58 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2837960 35 126 0.277778 30 0 35 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17166496 58 128 0.453125 38 0 49 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3764021 5317 10752 0.494513 44 0 56 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs17388568 23 128 0.179688 16 0 18 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11171739 61 126 0.484127 30 0 45 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11052552 45 118 0.381356 30 0 41 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6534347 82 128 0.640625 47 0 72 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4506565 38 128 0.296875 28 0 36 2 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7659604 58 126 0.460317 43 0 57 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12304921 26 128 0.203125 22 0 28 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1495377 86 128 0.671875 49 0 78 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs358806 115 128 0.898438 54 0 100 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9465871 55 128 0.429688 34 0 48 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs13361189 22 108 0.203704 17 0 21 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10801047 88 120 0.733333 43 0 70 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12035082 83 128 0.648438 45 0 70 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6887695 52 128 0.40625 36 0 45 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9292777 74 128 0.578125 39 0 60 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2836754 52 128 0.40625 34 0 41 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9653442 50 128 0.390625 34 0 44 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3741208 74 128 0.578125 44 0 61 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2981582 71 128 0.554688 42 0 60 2 2 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs889312 83 126 0.65873 48 0 71 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs981782 30 128 0.234375 22 0 27 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs13281615 58 126 0.460317 36 0 46 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs3817198 24 128 0.1875 19 0 23 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1219648 54 128 0.421875 38 0 49 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1012053 102 124 0.822581 51 0 87 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7506045 20 128 0.15625 17 0 18 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10486776 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N 10 - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9536591 52 128 0.40625 37 0 44 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10757278 41 128 0.320312 27 0 33 1 1 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - Hom-G mutation here increases risk of abdominal aortic aneurysm mutation by 1.3, Hom-A decreases risk by 1.3. pathogenic Insufficiently evaluated pathogenic unknown Array rs7754840 60 128 0.46875 40 0 53 2 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs9300039 10 128 0.078125 9 0 9 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7756992 61 128 0.476562 41 0 54 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs564398 1283 4586 0.279765 19 0 24 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7901695 38 128 0.296875 28 0 36 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7517847 45 128 0.351562 32 0 43 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs224136 50 128 0.390625 27 0 45 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2648875 46 128 0.359375 34 0 46 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4129148 43 102 0.421569 8 0 15 0 0 - - - - - - - - - - - - - - Y - - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1373692 74 128 0.578125 39 0 60 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4363506 58 126 0.460317 35 0 48 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs16984239 23 128 0.179688 14 0 16 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs12680546 27 128 0.210938 20 0 20 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs6013382 60 124 0.483871 39 0 56 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11099864 62 128 0.484375 37 0 50 0 0 - - - - - - - - - - - - - - Y - - - - - - 1 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2782931 33 128 0.257812 26 0 30 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2836823 28 128 0.21875 16 0 19 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs4142041 53 128 0.414062 33 0 46 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs11200638 16 82 0.195122 11 0 13 1 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs1480597 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs2242330 27 128 0.210938 19 0 23 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10501570 12 128 0.09375 12 0 15 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs10494366 56 128 0.4375 35 0 47 2 1 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs7702187 80 128 0.625 42 0 66 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pathogenic Insufficiently evaluated pathogenic unknown Array rs380390 91 128 0.710938 50 0 82 0 0 - - - - - - - - - - - - - - Y Y - - - - - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 43 10758 0.00399703 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799732 36 124 0.290323 27 0 48 12 7 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6277 4361 10758 0.405373 26 0 33 6 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - VKORC1 Cys6484Thr C6484T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - Y - Y - 3 - 4 N 5 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs776746 47 128 0.367188 28 0 44 7 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP3A5 Lys208Lys K208K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - -10 - 2 N - - CYP3A4 Asp174His D174H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - Y 0.005 - - 3 - 1 N - - CYP3A4 Pro416Leu P416L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - Y 1.0 - - 7 Y 3 N - - CYP3A4 Pro467Ser P467S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y 0.054 - - 3 - 1 N - - CYP3A4 Phe189Ser F189S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y 1.0 - - 5 Y 3 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2740574 97 128 0.757812 45 0 80 7 3 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP3A4 Met445Thr M445T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4986910 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - Y 0.998 - - 2 - 3 N - - CYP3A4 Leu15Pro L15P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y 0.885 - - 7 Y 3 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP3A4 Arg162Gln R162Q pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 120 10758 0.0111545 0 0 0 0 0 - - - - - - - - - - - - - - - Y 0.004 - - 0 - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3892097 1583 10548 0.150076 7 0 7 2 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP3A4 Thr185Ser T185S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y 0.619 - - -2 - 2 N - - SLC19A1 Arg27His R27H pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17244841 3 92 0.0326087 2 0 2 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17238540 4 128 0.03125 5 0 5 2 2 - - 0 - - - - - - - - - - - - Y - - - - - 1 N - - this polymorphism has effect on how strongly blood pressure reacts to the salt intake. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28371725 846 10734 0.078815 5 0 5 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic dominant Array rs4244285 1660 10752 0.15439 13 0 15 5 5 3 Y 2 Y 4 Y - - 5 Y 4 Y - - - Y - - - - - 1 N - - This variant defines the CYP2C19*2 haplotype and is associated with diminished response of clopidogrel (plavix). Compared to individuals who do not have this variant, carriers of this variant are more likely to have a major adverse cardiovascular event despite treatment with clopidogrel. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs750155 30 78 0.384615 23 0 27 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs731236 3827 10756 0.355801 23 0 26 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3760091 50 128 0.390625 38 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Low clinical importance, Uncertain pharmacogenetic unknown Array rs1544410 45 128 0.351562 29 0 35 0 0 1 Y ! Y 0 - 0 - 1 Y 0 Y - - - Y - - - - - 1 N 0 0 rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11568820 68 128 0.53125 39 0 61 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - VKORC1 Gly9041Ala G9041A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - Y - Y - 1 - 4 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7975232 6062 10754 0.563697 42 0 58 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - VKORC1 Gly3673Ala G3673A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 1 - - - - - - - - - - - - Y - - Y - Y - 1 - 4 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1128503 6945 10758 0.645566 46 0 72 5 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1045642 6244 10758 0.580405 46 0 72 27 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3782905 36 128 0.28125 23 0 27 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2239179 54 128 0.421875 32 0 37 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2239185 63 118 0.533898 36 0 49 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1540339 34 128 0.265625 24 0 30 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28399433 736 10754 0.0684396 13 0 13 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5275 52 122 0.42623 33 0 45 3 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs20417 30 128 0.234375 24 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5441 95 128 0.742188 50 0 77 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - P2RY1 Thr744Cys T744C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - P2RY1 Ala1622Gly A1622G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - P2RY1 Cys893Thr C893T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - NQO1 Cys465Thr C465T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - NQO1 Cys609Thr C609T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - EGFR Arg497Lys R497K pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - Y - Y - -3 - 4 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2470890 5073 10758 0.471556 19 0 28 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5446 36 128 0.28125 27 0 30 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs762551 76 128 0.59375 45 0 65 4 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1256062 38 128 0.296875 24 0 34 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2069526 8 128 0.0625 6 0 6 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1256040 74 128 0.578125 48 0 64 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1887994 8 128 0.0625 7 0 7 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP1A2 Asn516Asn N516N pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - -11 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2069521 7 128 0.0546875 5 0 5 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - GNB3 Ser275Ser S275S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 4 0 - - - - - - - - - - - - - - - Y - - - -9 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2230037 1450 8761 0.165506 11 0 15 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2069514 23 128 0.179688 17 0 21 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1041983 3845 10758 0.357408 37 0 47 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 3 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - P2RY12 Thr744Cys T744C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800468 670 10758 0.0622792 2 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - RYR1 Arg2676Trp R2676W pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - Y 0.999 Y Y 7 Y 6 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799964 33 128 0.257812 23 0 24 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5760410 67 128 0.523438 46 0 59 2 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - SLC19A1 Gly80Ala G80A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13120400 20 124 0.16129 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17731538 19 128 0.148438 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3784862 81 128 0.632812 46 0 70 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs246240 23 128 0.179688 14 0 18 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2238476 3 128 0.0234375 2 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs35592 53 128 0.414062 33 0 47 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2045065 108 128 0.84375 54 0 91 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2278294 51 128 0.398438 34 0 41 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2278293 59 128 0.460938 39 0 50 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4986938 3563 10758 0.331195 26 0 32 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs183130 37 128 0.289062 28 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3843763 41 128 0.320312 28 0 35 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3807375 67 126 0.531746 42 0 62 2 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs757092 68 128 0.53125 38 0 54 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - KCNQ1 Gly643Ser G643S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800172 73 10522 0.00693784 3 0 3 0 0 - - - - - - - - - - - - Y - - Y - Y Y 2 - 5 N 10 - - UGT2B7 His268Tyr H268Y pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - -1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs242941 48 126 0.380952 31 0 45 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4646903 28 128 0.21875 21 0 24 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - KCNE2 Thr8Ala T8A pharmacogenetic Low clinical importance, Uncertain pharmacogenetic dominant Array 48 10758 0.0044618 0 0 0 1 1 1 Y 1 Y ! Y - - 2 Y 4 Y Y - - Y 0.497 Y Y 1 - 5 N 10 0 0 Found in about 1% of individuals, probably has no clinically significant effect. One group proposed that this variant may cause increased susceptibility to drug-induced arrhythmia, but this conclusion is not supported (and perhaps slightly contradicted) by their reported observations of the variant in clinical cases. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1876828 14 126 0.111111 8 0 10 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3815459 1812 9228 0.196359 4 0 6 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs242939 18 128 0.140625 15 0 21 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - KCNH2 Lys897Thr K897T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1805123 1819 10758 0.169083 16 0 17 0 0 1 Y - - - - - - - - - - Y - - Y 0.001 Y Y 3 - 4 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2236609 85 124 0.685484 43 0 63 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6311 62 128 0.484375 41 0 54 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs5182 4031 10758 0.374698 36 0 46 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs727957 15 128 0.117188 9 0 10 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - may influence cardiac repolarization and cardiovascular mortality pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4124874 73 128 0.570312 46 0 65 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10929302 38 126 0.301587 31 0 34 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - UGT1A1 Gly211Ala G211A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - Y - Y - 1 - 4 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - UGT2B7 Ala71Ser A71S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12233719 2 10754 0.000185977 1 0 1 1 0 - - - - - - - - - - - - - - - Y - - - -1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3832043 27 62 0.435484 17 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799724 7 128 0.0546875 8 0 8 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs361525 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3740066 3552 10758 0.330173 30 0 32 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - AGTR1 Ala1166Cys A1166C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - Y - Y - 2 - 4 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs717620 1613 10758 0.149935 17 0 18 3 3 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799929 4001 10758 0.371909 26 0 32 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - NAT2 Ala411Thr A411T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - NAT2 Gly364Ala G364A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800469 80 124 0.645161 44 0 64 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800629 638 4534 0.140715 12 0 12 5 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - TGFB1 Thr263Ile T263I protective Low clinical importance, Uncertain protective dominant Array rs1800472 221 10758 0.0205429 4 0 4 1 1 - - - - 0 Y 0 Y 3 - 4 Y Y - - Y - Y Y 3 - 5 N 10 0 0 Carriers may be less likely to have cleft lip and palate congenital deformity. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - TGFB1 Leu10Pro L10P pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - Y - Y Y 7 Y 5 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2987983 59 128 0.460938 37 0 52 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1256065 95 128 0.742188 53 0 83 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ESR1 Cys325Gly C325G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 7 Y 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1255998 47 128 0.367188 30 0 42 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ESR1 Ser10Ser S10S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - -9 - 2 N - - ESR1 Ala252966Gly A252966G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1033182 27 128 0.210938 13 0 17 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2431260 91 126 0.722222 49 0 79 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 3 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1256059 95 128 0.742188 53 0 83 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2234693 54 128 0.421875 37 0 45 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ESR2 Asp14Ser D14S pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 2 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9340799 36 128 0.28125 22 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ESR2 Val328Val V328V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - -8 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1256030 83 128 0.648438 51 0 73 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ESR1 Gly594Ala G594A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3798577 50 128 0.390625 38 0 46 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1271572 45 126 0.357143 45 0 47 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs728524 19 128 0.148438 16 0 18 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs689469 1 126 0.00793651 2 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4648298 1 128 0.0078125 2 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4343 6039 10758 0.56135 42 0 58 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - SULT1A1 Met223Val M223V pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y 0.025 - - 0 - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1042157 31 128 0.242188 27 0 28 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ABCB1 Cys3435Thr C3435T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2066843 2171 10756 0.201841 15 0 18 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1885120 126 128 0.984375 55 0 106 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - may be associated with cutaneous melanoma pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2004640 38 86 0.44186 21 0 28 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17044137 41 128 0.320312 34 0 39 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1974047 77 128 0.601562 44 0 61 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs985162 65 122 0.532787 39 0 57 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6698181 27 128 0.210938 21 0 23 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2710102 82 128 0.640625 51 0 75 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7794745 64 128 0.5 41 0 59 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1360780 82 128 0.640625 51 0 78 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3800373 83 128 0.648438 51 0 77 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3093726 3 128 0.0234375 2 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1935349 42 128 0.328125 31 0 38 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2276307 28 128 0.21875 19 0 23 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs143383 69 122 0.565574 36 0 57 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7495174 24 128 0.1875 17 0 22 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2781659 59 128 0.460938 41 0 55 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CHRNA3 Gly394Gly G394G pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - -9 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs680244 86 128 0.671875 48 0 76 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs578776 56 128 0.4375 44 0 57 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs569207 2635 10756 0.24498 32 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2814778 584 3234 0.180581 22 0 38 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1617640 84 126 0.666667 47 0 71 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11188072 25 128 0.195312 25 0 27 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11983225 19 128 0.148438 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2032583 1559 10748 0.14505 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10248420 42 128 0.328125 28 0 38 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2235015 2665 10756 0.247769 22 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7787082 45 128 0.351562 27 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148740 19 128 0.148438 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148739 19 128 0.148438 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10280101 19 128 0.148438 14 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12720067 11 128 0.0859375 7 0 8 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2235040 1496 10758 0.139059 13 0 16 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3793784 35 128 0.273438 24 0 29 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs243865 17 128 0.132812 13 0 14 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2285053 25 128 0.195312 21 0 25 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6885099 90 128 0.703125 48 0 78 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7439293 44 128 0.34375 24 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1010 51 128 0.398438 34 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10789082 23 126 0.18254 15 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11572325 13 116 0.112069 13 0 13 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10889160 27 126 0.214286 23 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 4 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - NPPA Thr2238Cys T2238C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2267715 45 128 0.351562 27 0 39 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2284220 101 124 0.814516 50 0 89 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2842030 61 128 0.476562 42 0 56 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs951439 59 128 0.460938 39 0 46 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7566605 88 128 0.6875 51 0 79 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11684454 39 128 0.304688 27 0 33 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2072661 35 128 0.273438 28 0 30 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - ABCC4 Gly2269Ala G2269A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11045585 19 128 0.148438 14 0 15 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4646 89 128 0.695312 52 0 78 3 3 - - - - - - - - - - - - - - - Y - - - - - 1 N - - associated with response to a drug letrozole in cancer patients pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1821777 23 128 0.179688 20 0 23 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1882200 2675 10758 0.248652 20 0 23 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs255100 42 128 0.328125 27 0 36 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7793837 66 128 0.515625 40 0 61 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3740057 1517 3234 0.469079 36 0 43 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10883421 50 128 0.390625 36 0 43 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4704397 90 128 0.703125 48 0 79 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2046045 89 128 0.695312 48 0 77 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - 3 Ile359Leu I359L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - -2 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4917639 24 128 0.1875 16 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - SULT1A1 Phe247Leu F247L pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28374453 29 10758 0.00269567 6 0 6 1 1 - - - - - - - - - - - - - - - Y - - - 0 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6839 3248 10756 0.301971 9 0 10 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 78 9424 0.00827674 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs975833 41 128 0.320312 29 0 38 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2661319 51 128 0.398438 38 0 49 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9406328 3245 10756 0.301692 23 0 30 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800734 30 128 0.234375 22 0 27 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9937 4413 10758 0.410206 23 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1042858 9569 10758 0.889478 27 0 48 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7586110 43 122 0.352459 28 0 35 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs889299 34 128 0.265625 25 0 30 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11635424 51 128 0.398438 31 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2193225 48 128 0.375 30 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - 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- - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3026682 41 128 0.320312 26 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs737622 61 128 0.476562 41 0 49 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1043620 6313 6760 0.933876 32 0 63 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2550948 51 128 0.398438 33 0 42 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2652511 9 50 0.18 7 0 9 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2617596 14 60 0.233333 7 0 9 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2975226 2 12 0.166667 3 0 4 1 0 - 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- - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1321172 39 128 0.304688 26 0 36 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800169 1210 10758 0.112474 9 0 9 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9264942 38 124 0.306452 26 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12364283 6 128 0.046875 3 0 4 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2283265 24 128 0.1875 15 0 18 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4731426 58 128 0.453125 28 0 41 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - HTR3A Cys178Thr C178T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1800012 11 124 0.0887097 7 0 8 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs25648 898 7956 0.112871 3 0 3 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1109324 11 128 0.0859375 11 0 12 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs833052 113 128 0.882812 54 0 94 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1547651 8 128 0.0625 9 0 9 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4804611 30 128 0.234375 18 0 22 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1451371 50 124 0.403226 36 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - SLC14A2 Val227Ile V227I pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - -4 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10192566 74 128 0.578125 45 0 64 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs34241435 20 128 0.15625 16 0 18 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pathogenic Low clinical importance, Likely pathogenic undefined Array rs5186 985 4584 0.214878 17 0 21 6 6 0 - 2 Y 3 Y 0 Y 4 Y 4 Y - - - Y - - - - - 1 N 0 1 This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs. CYP4A11 Thr8590Cys T8590C pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs987107 33 128 0.257812 22 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs890293 7 84 0.0833333 4 0 4 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10941679 31 128 0.242188 24 0 29 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4415084 71 128 0.554688 40 0 58 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4911414 110 128 0.859375 55 0 95 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1015362 49 128 0.382812 31 0 44 1 0 - 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- - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs509035 26 126 0.206349 22 0 26 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9819506 39 120 0.325 24 0 30 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3750518 1890 4586 0.412124 37 0 51 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1954787 48 128 0.375 29 0 39 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs921451 36 126 0.285714 24 0 29 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3869068 24 126 0.190476 23 0 28 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9261174 25 128 0.195312 24 0 29 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2368564 53 128 0.414062 38 0 50 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2304016 12 10754 0.00111586 3 0 4 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs688 3611 10758 0.335657 20 0 24 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10789230 48 128 0.375 31 0 41 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2064689 40 128 0.3125 25 0 34 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1004819 39 128 0.304688 26 0 33 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13213247 5 122 0.0409836 4 0 4 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9988642 13 128 0.101562 9 0 11 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12567232 42 128 0.328125 28 0 35 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1343151 53 128 0.414062 35 0 48 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10889676 42 128 0.328125 28 0 35 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6669582 44 128 0.34375 34 0 41 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2511990 60 128 0.46875 37 0 51 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2244169 61 128 0.476562 37 0 52 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1339219 58 128 0.453125 40 0 52 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17169056 6 128 0.046875 4 0 5 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9871556 88 128 0.6875 47 0 76 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10495669 63 128 0.492188 40 0 56 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10116682 9 128 0.0703125 9 0 10 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs463426 80 128 0.625 47 0 67 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11211503 10 128 0.078125 8 0 9 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17152411 21 128 0.164062 20 0 21 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1413846 77 126 0.611111 45 0 65 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6851702 23 128 0.179688 19 0 22 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4522336 15 128 0.117188 12 0 12 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10435604 38 128 0.296875 25 0 32 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3864671 36 128 0.28125 25 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3864670 36 128 0.28125 25 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1012620 14 128 0.109375 8 0 9 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10502094 11 126 0.0873016 13 0 13 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 5 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7652838 12 128 0.09375 12 0 12 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs16840493 17 128 0.132812 13 0 15 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10264784 35 128 0.273438 30 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP2C19 Gly681Ala G681A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 2 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1480090 74 128 0.578125 47 0 68 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4555132 20 128 0.15625 15 0 18 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4459653 98 126 0.777778 53 0 84 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2681411 62 128 0.484375 34 0 47 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4802207 68 118 0.576271 36 0 55 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12639920 74 128 0.578125 39 0 58 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2119067 107 128 0.835938 52 0 92 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11683103 67 128 0.523438 41 0 59 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4926831 42 128 0.328125 26 0 38 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2061332 73 126 0.579365 40 0 59 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9659092 40 128 0.3125 24 0 36 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3807031 18 128 0.140625 14 0 15 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1425967 74 128 0.578125 47 0 67 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4416533 76 128 0.59375 47 0 67 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17147528 12 126 0.0952381 10 0 11 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17015014 28 128 0.21875 21 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1881539 108 128 0.84375 55 0 94 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9345389 11 126 0.0873016 11 0 11 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs335251 62 128 0.484375 39 0 57 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12644671 31 128 0.242188 24 0 29 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7664751 33 126 0.261905 25 0 29 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6589885 338 10758 0.0314185 9 0 9 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 5 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs720099 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 6 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7946599 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 5 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12725861 33 128 0.257812 22 0 25 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12514426 23 128 0.179688 20 0 22 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10922573 33 128 0.257812 22 0 25 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2298814 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 6 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1792124 112 128 0.875 54 0 96 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6428503 33 128 0.257812 22 0 25 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1784919 103 120 0.858333 49 0 85 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11218343 15 128 0.117188 13 0 14 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7537752 61 128 0.476562 36 0 52 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11218342 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 5 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11244841 20 128 0.15625 14 0 18 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7894737 73 126 0.579365 42 0 57 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2319398 72 128 0.5625 43 0 69 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6808874 31 128 0.242188 26 0 32 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13321783 80 128 0.625 45 0 76 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10733113 106 124 0.854839 52 0 90 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs563649 12 128 0.09375 11 0 12 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1455824 26 122 0.213115 21 0 21 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2311350 95 128 0.742188 53 0 88 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs334558 46 84 0.547619 24 0 39 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1414334 61 92 0.663043 38 0 68 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11179002 23 120 0.191667 18 0 20 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - SLCO2B1 Cys1457Thr C1457T pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 3 - 2 N - - SLCO2B1 Gly935Ala G935A pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - 1 - 2 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs742105 45 128 0.351562 33 0 41 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs909706 93 128 0.726562 49 0 79 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7657958 8 126 0.0634921 5 0 5 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4606 43 128 0.335938 33 0 39 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2472677 39 104 0.375 26 0 41 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs868856 75 128 0.585938 46 0 67 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs854548 96 128 0.75 51 0 85 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs854547 57 128 0.445312 42 0 52 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs928655 73 128 0.570312 41 0 57 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6071980 16 128 0.125 15 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs119774 6 128 0.046875 3 0 4 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2660845 44 0 68 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2115819 55 128 0.429688 37 0 51 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4712652 76 128 0.59375 48 0 68 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13254738 52 124 0.419355 35 0 42 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10399805 29 124 0.233871 21 0 25 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2275351 40 128 0.3125 26 0 36 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs16999349 27 128 0.210938 23 0 25 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 7 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3862227 36 128 0.28125 25 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11067600 24 128 0.1875 19 0 23 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 3 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1158392 29 128 0.226562 22 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13106616 28 128 0.21875 23 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1486649 36 128 0.28125 25 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2521984 39 128 0.304688 26 0 35 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10519612 19 128 0.148438 15 0 16 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6823379 30 128 0.234375 20 0 24 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs959091 19 128 0.148438 19 0 20 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7517671 51 128 0.398438 37 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2676527 121 126 0.960317 54 0 103 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs460106 75 128 0.585938 44 0 62 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17099545 9 128 0.0703125 7 0 7 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11203995 41 128 0.320312 26 0 33 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2228671 967 10758 0.0898866 8 0 8 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - rs2228671 is a C/T variation in the LDLR gene on human chromosome 19 associated with total cholesterol. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10918594 59 126 0.468254 40 0 49 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs9316233 40 128 0.3125 29 0 32 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1544791 72 128 0.5625 44 0 64 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - 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0 - 4 N 10 - - MTHFR Phe435Phe F435F pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - Y - Y - -11 - 4 N 6 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs362307 3 128 0.0234375 3 0 3 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1006798 36 128 0.28125 26 0 30 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs799906 64 126 0.507936 35 0 52 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11655505 39 128 0.304688 26 0 30 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs799908 40 90 0.444444 22 0 33 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11082277 54 128 0.421875 28 0 41 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8082305 12 124 0.0967742 13 0 14 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs17665021 8 126 0.0634921 7 0 7 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11636705 18 128 0.140625 19 0 19 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2930357 56 128 0.4375 33 0 50 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2911292 53 128 0.414062 33 0 45 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4741746 20 128 0.15625 14 0 16 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12273744 47 118 0.398305 31 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12277155 50 128 0.390625 35 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1946468 80 128 0.625 50 0 71 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12282593 52 126 0.412698 34 0 47 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1846681 58 128 0.453125 37 0 51 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12287931 48 124 0.387097 34 0 43 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4702473 75 128 0.585938 43 0 64 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6788148 44 128 0.34375 32 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12963484 64 128 0.5 37 0 55 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4078157 72 128 0.5625 46 0 58 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11201887 69 128 0.539062 36 0 57 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12257526 27 128 0.210938 23 0 27 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12262754 26 128 0.203125 23 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3947413 54 128 0.421875 37 0 48 1 0 - 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- pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2240920 39 128 0.304688 32 0 37 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2290113 41 92 0.445652 23 0 36 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7331762 50 128 0.390625 35 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11222869 60 128 0.46875 36 0 46 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4142237 38 128 0.296875 28 0 35 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7915663 37 128 0.289062 29 0 34 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12164089 38 128 0.296875 28 0 33 1 0 - 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- - - 4 - - - 3 - - - - - - Y - - - - - 1 N - - gene VKORC1 SNP 1173 C>T is strongly associated with low warfarin dose requirement. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs560018 3051 10758 0.283603 20 0 23 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs795491 35 54 0.648148 29 0 51 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2607737 50 128 0.390625 32 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2236930 24 128 0.1875 19 0 21 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1078985 27 128 0.210938 17 0 17 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2230949 683 10680 0.0639513 4 0 4 1 1 - 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- - - - - - - - - - - - - - Y - - - - - 1 N - - UGT2B15 Tyr85Asp Y85D pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1902023 5458 10746 0.50791 19 0 37 1 0 - - - - - - - - - - - - - - - Y - - - 7 Y 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2290573 3847 9912 0.388115 24 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1687390 7 108 0.0648148 7 0 7 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2069919 42 124 0.33871 29 0 38 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11653 32 128 0.25 25 0 27 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12714145 44 126 0.349206 32 0 37 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs13143308 80 128 0.625 45 0 66 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs339097 11 128 0.0859375 11 0 12 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6276 2444 4586 0.532926 31 0 42 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1643649 29 128 0.226562 21 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3737965 317 10392 0.0305042 1 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2227684 4900 10758 0.455475 39 0 53 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7242 61 126 0.484127 39 0 52 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2227631 70 126 0.555556 44 0 66 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1799889 22 0 42 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7248668 20 128 0.15625 12 0 16 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12980275 45 126 0.357143 33 0 43 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs8105790 29 124 0.233871 19 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11881222 40 128 0.3125 28 0 37 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4803219 7 74 0.0945946 3 0 6 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs28416813 4095 10756 0.380718 22 0 35 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2853539 81 128 0.632812 48 0 72 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1048977 3657 10758 0.339933 35 0 43 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4653436 26 126 0.206349 20 0 20 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12289128 9 128 0.0703125 7 0 7 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 9 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1495448 72 128 0.5625 44 0 62 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2301159 33 128 0.257812 28 0 33 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs12418 43 128 0.335938 30 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs730720 48 128 0.375 35 0 45 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148950 43 128 0.335938 30 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148947 42 128 0.328125 29 0 39 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148943 47 128 0.367188 34 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs179997 29 128 0.226562 23 0 31 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs290487 33 128 0.257812 24 0 28 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6843082 80 128 0.625 45 0 66 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2242048 9680 10758 0.899795 54 0 101 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4742 4087 10758 0.379903 29 0 36 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1803484 2 0 2 1 0 - - - - - - - - - - - - - - - Y - - - - - 2 N 10 - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3775289 91 124 0.733871 43 0 74 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7769719 29 128 0.226562 18 0 26 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3734254 71 128 0.554688 39 0 57 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1883322 66 126 0.52381 38 0 53 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs4148945 37 128 0.289062 25 0 34 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2016520 87 128 0.679688 45 0 71 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1871450 43 128 0.335938 30 0 40 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6922548 30 112 0.267857 20 0 28 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3213619 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2768759 50 128 0.390625 29 0 44 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs10515807 15 128 0.117188 12 0 12 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2500535 115 128 0.898438 53 0 99 1 1 - - - - - - - - - - - - - - - Y - - - - - 1 N - - May be associated with response to antidepressant treatments. pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2929973 112 128 0.875 54 0 98 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs6581612 93 128 0.726562 50 0 81 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs331 36 128 0.28125 25 0 29 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11920090 24 128 0.1875 20 0 21 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs11605924 36 126 0.285714 22 0 29 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs7944584 22 128 0.171875 13 0 16 2 2 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs1435879 19 128 0.148438 12 0 15 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs662799 115 128 0.898438 54 0 94 3 3 - - - - - - - - - - - - - - - Y - - - - - 1 N - - associated with the triglyceride levels and the risk of first heart attack pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs495828 18 128 0.140625 12 0 15 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 17 128 0.132812 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - CYP2C9 Asp360Glu D360E pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 42 10758 0.00390407 0 0 0 1 0 - - - - - - - - - - - - - - - Y 0.907 - - -2 - 3 N - - CYP2C9 Arg335Trp R335W pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 86 10758 0.00799405 0 0 0 1 0 - - - - - - - - - - - - - - - Y 1.0 - - 7 Y 3 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 3 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3780412 67 128 0.523438 39 0 53 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs3780413 72 128 0.5625 43 0 59 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array rs2228622 3781 10758 0.351459 30 0 38 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 0 - - - - - - - - - - - - - - - Y - - - - - 1 N - - A1CF Phe259Ser F259S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - A1CF Phe251Ser F251S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - A2ML1 Val1091Ala V1091A not reviewed Insufficiently evaluated not reviewed unknown Array rs61736726 141 10564 0.0133472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - AADAC Val172Ile V172I not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - AADACL3 Ala271Thr A271T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10322 0.000387521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AADACL3 Ala201Thr A201T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AADAT Thr204Ala T204A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - AASS Ser771Leu S771L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.468 Y - 6 Y 2 N - - ABCA1 Gly1310Trp G1310W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ABCA10 Arg1322Gln R1322Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72852601 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - ABCA10 Leu1318Pro L1318P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.759 - - 7 Y 1 N - - ABCA12 Asp2047Asn D2047N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ABCA12 Asp2365Asn D2365N not reviewed Insufficiently evaluated not reviewed unknown Array rs726070 207 10758 0.0192415 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.86 Y Y -1 - 4 N - - ABCA12 Phe1148Val F1148V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - ABCA12 Phe830Val F830V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ABCA3 Ala217Val A217V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 2 - 1 N - - ABCA4 Ile768Met I768M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.154 Y - -1 - 1 N - - ABCA7 Gln1686Arg Q1686R not reviewed Insufficiently evaluated not reviewed unknown Array rs4147918 311 10758 0.0289087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 2 - 7 - - ABCA8 Cys1244Tyr C1244Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34987539 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ABCA9 Asp736Val D736V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.797 - - 8 Y 1 N - - ABCB1 Ile261Val I261V not reviewed Insufficiently evaluated not reviewed unknown Array rs36008564 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 8 - - ABCB5 Gln750Stop Q750X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCB7 Thr258Ser T258S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ABCC12 Ser1162Leu S1162L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ABCC4 Thr1142Met T1142M not reviewed Insufficiently evaluated not reviewed unknown Array rs11568644 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 9 - - ABCC6 Asp914Val D914V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ABCC6 Pro913Ser P913S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ABCD4 Thr350Arg T350R not reviewed Insufficiently evaluated not reviewed unknown Array rs35073715 194 10758 0.0180331 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - ABCG8 Arg543Ser R543S pathogenic High clinical importance, Uncertain pathogenic recessive Array 2 10758 0.000185908 1 0 1 1 1 3 Y - - 0 Y - - 3 Y 4 Y Y - - - 1.0 Y - 3 - 4 - 1 2 0 This variant is predicted to cause sitosterolemia (inability to break down plant sterols) in a recessive manner, although this finding lacked statistical significance. Sitosterolemia may be underdiagnosed as it has symptoms similar to hypercholesterolemia and hyperlipidemia. ABHD10 Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array rs17429033 537 10758 0.0499163 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - ABHD12 Leu40Val L40V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - ABHD14A Arg227Gly R227G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729088 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - ABR Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 10 - - ABRA Lys246Glu K246E not reviewed Insufficiently evaluated not reviewed unknown Array rs36024019 282 10758 0.026213 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.629 - - 0 - 1 N - - ACAD11 Lys488Asn K488N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAD11 Glu381Lys E381K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACADVL Glu92Lys E92K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ACADVL Glu114Lys E114K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.018 Y Y 0 - 2 N - - ACCSL Arg73His R73H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10292 0.0015546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.278 - - 1 - 1 N - - ACE Thr1187Met T1187M not reviewed Insufficiently evaluated not reviewed unknown Array rs12709442 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - ACE Thr613Met T613M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - ACE2 Asn720Asp N720D not reviewed Insufficiently evaluated not reviewed unknown Array rs41303171 157 8761 0.0179203 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - ACE2 Ser3Asn S3N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 10 - - ACN9 Phe53Leu F53L not reviewed Insufficiently evaluated not reviewed unknown Array rs62624461 201 10758 0.0186838 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ACSL6 Ala594Val A594V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSM1 Ile479Val I479V not reviewed Insufficiently evaluated not reviewed unknown Array rs8056709 165 10758 0.0153374 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 1 - 3 - - ACSM1 Gly434Ser G434S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - ACSM2B Leu318Val L318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - ACSM3 Pro308Thr P308T not reviewed Insufficiently evaluated not reviewed unknown Array rs7196188 258 10758 0.0239822 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.02 - - 4 Y 1 - 4 - - ACTG1 Glu83Ala E83A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.46 - - 3 - 1 N - - ADAM19 Leu63Phe L63F not reviewed Insufficiently evaluated not reviewed unknown Array rs61753548 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM19 Leu64Phe L64F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ADAM2 Glu99Gly E99G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.17 - - 6 Y 0 N - - ADAM20 Val259Ala V259A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM22 Val207Ile V207I not reviewed Insufficiently evaluated not reviewed unknown Array rs17255978 555 9446 0.058755 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 4 - - ADAM29 Arg530Cys R530C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ADAM7 Glu25Gln E25Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34852692 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - ADAM7 Ile205Val I205V not reviewed Insufficiently evaluated not reviewed unknown Array rs7829386 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - ADAM7 Leu735Pro L735P not reviewed Insufficiently evaluated not reviewed unknown Array rs6980829 264 10758 0.0245399 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - ADAMDEC1 Ile2Thr I2T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMDEC1 Ile81Thr I81T not reviewed Insufficiently evaluated not reviewed unknown Array 291 10754 0.0270597 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMDEC1 Pro360Ser P360S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMDEC1 Pro439Ser P439S not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.642 - - 3 - 1 N - - ADAMTS1 Val678Ile V678I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - ADAMTS12 Lys1270Asn K1270N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - ADAMTS16 Pro211Ser P211S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748184 112 9978 0.0112247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ADAMTS16 Val1057Gly V1057G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10396 0.00134667 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.249 - - 8 Y 1 N - - ADAMTS17 Ser1015Leu S1015L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10104 0.000395882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS18 Glu781Asp E781D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - ADAMTS18 Ala235Gly A235G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS2 His447Arg H447R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10738 0.00065189 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ADAMTSL3 Arg1560Cys R1560C not reviewed Insufficiently evaluated not reviewed unknown Array rs35633782 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ADARB1 Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADARB1 Ile528Val I528V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADARB1 Ile556Val I556V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADARB1 Ile568Val I568V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAT1 Ala261Ser A261S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - ADCY10 Thr426Ile T426I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.841 - - 3 - 1 N - - ADCY7 Ser296Pro S296P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - ADCY8 Asn367Ile N367I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ADH1B Cys175Trp C175W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ADHFE1 Glu113Asp E113D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - -2 - 2 N - - ADRA1A Thr224Ile T224I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - ADRA1B Thr233Ser T233S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - ADRB2 Ser220Cys S220C not reviewed Insufficiently evaluated not reviewed unknown Array rs3729943 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.574 Y - 3 - 2 N - - AEN Ala201Glu A201E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 1 - - AFAP1L2 His685Gln H685Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.117 - - -1 - 0 N - - AFTPH Thr620Ala T620A not reviewed Insufficiently evaluated not reviewed unknown Array rs34934815 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - AGAP1 Arg798Gln R798Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - AGAP1 Arg745Gln R745Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGER Gly82Ser G82S not reviewed Insufficiently evaluated not reviewed unknown Array rs2070600 248 7510 0.0330226 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 3 - 10 - - AGL Ile7Ser I7S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.052 Y - 5 Y 2 - 10 - - AGL Lys385Asn K385N not reviewed Insufficiently evaluated not reviewed unknown Array rs28730701 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.27 Y - 1 - 3 - 2 - - AGL Lys369Asn K369N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AGL Lys368Asn K368N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AGL Ser841Phe S841F not reviewed Insufficiently evaluated not reviewed unknown Array 27 10682 0.00252762 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - 5 Y 1 N - - AGL Ser824Phe S824F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - AGL Ser825Phe S825F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - AGL Ser834Gly S834G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 1 - - AGL Ser835Gly S835G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AGL Ser851Gly S851G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.906 Y - 2 - 3 N - - AHNAK Gly5282Val G5282V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - AHNAK Gly5242Arg G5242R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - AHNAK Val792Leu V792L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - AIM1 Leu1235Pro L1235P not reviewed Insufficiently evaluated not reviewed unknown Array rs61741114 491 10758 0.0456405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 7 Y 2 N - - AIM1L Glu409Gln E409Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - AK2 Ala209Thr A209T not reviewed Insufficiently evaluated not reviewed unknown Array rs12116440 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 9 - - AKAP11 His1070Arg H1070R not reviewed Insufficiently evaluated not reviewed unknown Array rs17063163 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 3 - 3 - - AKAP13 Gly1286Asp G1286D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - AKAP3 Asn87Thr N87T not reviewed Insufficiently evaluated not reviewed unknown Array rs36066195 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - AKAP6 Glu892Lys E892K not reviewed Insufficiently evaluated not reviewed unknown Array rs34572259 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 3 - 3 - - AKAP7 Ala125Asp A125D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 5 Y 2 N - - AKAP9 Ile324Thr I324T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKR1C3 Cys154Trp C154W not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKR1C4 Cys154Trp C154W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AKR7L Phe322Val F322V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ALDH16A1 Val532Ile V532I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ALDH16A1 Val481Ile V481I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALG9 Pro335Leu P335L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ALG9 Pro342Leu P342L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ALK His1030Pro H1030P not reviewed Insufficiently evaluated not reviewed unknown Array 172 10756 0.0159911 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.133 Y Y 5 Y 2 N - - ALKBH2 Ile141Val I141V not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALMS1 Ile217Val I217V not reviewed Insufficiently evaluated not reviewed unknown Array 4 9560 0.00041841 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ALMS1 His623Arg H623R not reviewed Insufficiently evaluated not reviewed unknown Array rs41291187 187 9646 0.0193863 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALOX12 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - 7 Y 2 N - - ALPK1 Gly335Asp G335D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - ALPK1 Lys383Glu K383E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPK2 Ala1650Val A1650V not reviewed Insufficiently evaluated not reviewed unknown Array rs55656447 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - ALPK2 Gly286Cys G286C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.828 - - 7 Y 1 N - - ALS2 Glu1270Lys E1270K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALS2CR11 Ser607Pro S607P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - ALS2CR11 Lys157Asn K157N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10730 9.3196e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - AMBN Val378Ile V378I not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.256 - - -4 - 1 N - - AMOT Ala1011Asp A1011D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AMOT Ala602Asp A602D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AMPD1 Lys287Ile K287I not reviewed Insufficiently evaluated not reviewed unknown Array rs34526199 255 10758 0.0237033 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 6 Y 4 - 3 - - AMPD1 Arg75His R75H not reviewed Insufficiently evaluated not reviewed unknown Array rs61738827 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 1 - 1 N - - AMT Ser68Leu S68L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.13 Y Y 6 Y 2 N - - AMZ2 Leu22Val L22V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANK1 Ala362Ser A362S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - Y -1 - 1 N - - ANK1 Ala329Ser A329S benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 0 Y - - 0 Y - - - - - - - - - - 0.967 - Y -1 - 3 N 0 0 Rare. Other variants in this gene reported to cause spherocytosis in a recessive manner but examples listed on OMIM are more severe termination or frameshift variants. Because it is less severe, this variant is tentatively presumed non-pathogenic. ANKAR Ser452Arg S452R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKAR Met1309Ile M1309I not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD1 Lys143Stop K143X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANKRD11 Ala615Gly A615G not reviewed Insufficiently evaluated not reviewed unknown Array 78 10752 0.00725446 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD17 Trp2269Leu W2269L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - ANKRD17 Trp2018Leu W2018L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD17 Pro2211Ser P2211S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.946 - - 3 - 2 N - - ANKRD17 Pro1960Ser P1960S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD5 Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - ANKRD50 Ile391Val I391V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKS6 Pro735Ala P735A not reviewed Insufficiently evaluated not reviewed unknown Array 94 10110 0.00929772 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ANKZF1 Arg59Ser R59S not reviewed Insufficiently evaluated not reviewed unknown Array rs13007650 55 9520 0.00577731 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 2 - 1 - - ANLN Arg695Gly R695G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ANP32B Asp245His D245H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANXA10 Arg47Cys R47C not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ANXA3 Ser19Asn S19N not reviewed Insufficiently evaluated not reviewed unknown Array rs5951 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 9 - - ANXA3 Pro251Leu P251L not reviewed Insufficiently evaluated not reviewed unknown Array rs5949 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 10 - - AOC3 Ala582Thr A582T not reviewed Insufficiently evaluated not reviewed unknown Array rs34987927 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 4 - - AP1GBP1 Ser999Gly S999G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AP1S3 Phe4Cys F4C not reviewed Insufficiently evaluated not reviewed unknown Array 95 9702 0.0097918 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AP3M1 Asn105His N105H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - APLF Tyr82Cys Y82C not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APLP2 Glu222Asp E222D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - APLP2 Thr371Ala T371A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - APLP2 Thr315Ala T315A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - APLP2 Thr142Ala T142A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOA5 Asp37Glu D37E not reviewed Insufficiently evaluated not reviewed unknown Array rs34282181 120 10754 0.0111586 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 7 - - APOB Ala4481Thr A4481T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801695 299 10758 0.0277933 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - APOB Asn2879Asp N2879D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - APOH Ser107Asn S107N not reviewed Insufficiently evaluated not reviewed unknown Array rs1801692 364 10758 0.0338353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 6 - - APOL1 Asn158Ser N158S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL1 Asn176Ser N176S not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL1 Asn192Ser N192S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL3 Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL3 Ala228Thr A228T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - APOL3 Ala157Thr A157T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL5 Lys265Glu K265E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - AQP8 Ala212Thr A212T not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.313 - - 1 - 2 - 2 - - ARAP2 Gln141Arg Q141R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - ARF6 Asp128Glu D128E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP15 Ala418Thr A418T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP22 Arg186Cys R186C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 3 - 1 - - ARHGAP27 His548Gln H548Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34793644 611 10450 0.0584689 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 1 - - ARHGAP27 His521Gln H521Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 1 - - ARHGAP8 Tyr141Cys Y141C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ARHGAP8 Tyr172Cys Y172C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ARHGAP9 Gly338Arg G338R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ARHGAP9 Gly154Arg G154R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGEF15 Arg775Trp R775W not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.699 - - 7 Y 1 N - - ARHGEF16 Asn380Asp N380D not reviewed Insufficiently evaluated not reviewed unknown Array rs41315284 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 3 - 1 - - ARHGEF17 Ala2018Thr A2018T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF3 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF3 Ala92Val A92V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF3 Ala124Val A124V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - ARID4A Thr674Ala T674A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ARID4A Asn724Ser N724S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230098 364 10180 0.0357564 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 3 - - ARL11 Lys194Asn K194N not reviewed Insufficiently evaluated not reviewed unknown Array rs35835937 85 10328 0.00823005 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ARL5A Gln103Lys Q103K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARL5A Gln140Lys Q140K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARMC9 Thr475Met T475M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 2 - 0 N - - ARMCX1 Ala406Gly A406G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - 1 - 1 N - - ARNT Ala35Thr A35T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - ARNTL2 Asn340Ser N340S not reviewed Insufficiently evaluated not reviewed unknown Array rs1037921 429 10758 0.0398773 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARSB Ser384Asn S384N not reviewed Insufficiently evaluated not reviewed unknown Array rs25414 498 10758 0.0462911 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.171 Y - 0 - 2 - 10 - - ARSG Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array rs8074806 205 10758 0.0190556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - ARSG Arg398Trp R398W not reviewed Insufficiently evaluated not reviewed unknown Array rs11657051 302 10758 0.0280721 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 1 - - ARSG Ile493Thr I493T not reviewed Insufficiently evaluated not reviewed unknown Array rs61999318 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - ARSH Tyr289Asp Y289D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ART4 Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array rs28362798 197 10758 0.018312 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 6 - - ARV1 Gln86Stop Q86X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARVCF Ser11Cys S11C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.252 - - 3 - 1 N - - ASAP1 Ile1075Thr I1075T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASAP1 Val620Ile V620I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASAP3 Ala708Asp A708D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASAP3 Ala717Asp A717D not reviewed Insufficiently evaluated not reviewed unknown Array 55 10750 0.00511628 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - ASH1L Ile2204Val I2204V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASPM Val2243Leu V2243L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10752 0.00511533 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ASPM Lys78Arg K78R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ASTN1 Thr1275Met T1275M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASTN2 Met177Ile M177I not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASXL1 Gln910Arg Q910R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.665 - - 0 - 1 N - - ASXL1 Tyr1456His Y1456H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ATAD4 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATF7IP Gln883Lys Q883K not reviewed Insufficiently evaluated not reviewed unknown Array 1034 10758 0.0961145 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 1 N - - ATF7IP Pro1071Ser P1071S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 2 N - - ATG16L1 Asp121Glu D121E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - ATG4C Cys367Tyr C367Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ATG9A Ser592Gly S592G not reviewed Insufficiently evaluated not reviewed unknown Array rs2276635 770 10324 0.0745835 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 4 - - ATM Arg189Lys R189K not reviewed Insufficiently evaluated not reviewed unknown Array 1660 10752 0.15439 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - ATM Ser707Pro S707P benign Low clinical importance, Uncertain benign unknown Array rs4986761 88 10756 0.00818148 1 0 1 3 3 0 - - - 2 Y - - - - - - Y - - - - Y Y 3 - 4 - 10 0 0 Probably not pathogenic, several papers conclude it is not associated with breast cancer. ATM Asp814Glu D814E pathogenic Low clinical importance, Uncertain pathogenic other Array rs3218695 67 10754 0.00623024 2 0 2 3 3 ! Y - - 0 Y - - 4 - 4 - Y - - - - Y Y -2 - 4 - 3 0 0 May be associated with an increased risk of breast cancer. If so, the size of the effect is unknown. ATP10D Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ATP10D Arg182His R182H not reviewed Insufficiently evaluated not reviewed unknown Array 215 10758 0.0199851 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ATP10D Asn720Ser N720S not reviewed Insufficiently evaluated not reviewed unknown Array rs34169638 513 10758 0.0476854 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - ATP13A3 Ala567Pro A567P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.591 - - 2 - 1 N - - ATP13A5 Arg696His R696H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ATP2A2 Lys433Glu K433E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ATP2A2 Lys460Glu K460E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ATP2B1 Ser8Thr S8T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATP2B4 Arg607Leu R607L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 6 Y 0 N - - ATP2B4 Ser1053Phe S1053F not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - ATP2C1 Lys289Arg K289R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.131 Y - -3 - 1 N - - ATP2C2 Gly411Ser G411S not reviewed Insufficiently evaluated not reviewed unknown Array rs2303853 538 10120 0.0531621 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 - 3 - - ATP5A1 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228436 151 10756 0.0140387 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 1 - 3 - - ATP5A1 Ala32Ser A32S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228437 259 10758 0.0240751 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - ATP5J Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP5J Lys51Arg K51R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - ATP5O Lys73Arg K73R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP6V0A1 Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ATP6V0D2 Asn306Lys N306K not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.108 - - 1 - 0 N - - ATP6V1C2 Glu65Gly E65G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ATP7B Glu857Ala E857A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ATP7B Glu1064Ala E1064A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10202 9.8019e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 5 - 10 - - ATP9B Gly91Arg G91R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ATPBD4 Ala22Gly A22G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - ATR Lys764Glu K764E not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.741 - - 0 - 1 N - - ATRN Thr1185Asn T1185N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - ATRNL1 Cys961Gly C961G not reviewed Insufficiently evaluated not reviewed unknown Array 889 10758 0.0826362 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - ATXN2 Glu837Asp E837D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ATXN7 Met641Val M641V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10598 0.000283072 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 0 - 2 N - - AVEN Gly236Val G236V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - AVEN Gln213Pro Q213P not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - AZI1 Glu53Lys E53K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B3GALT1 Thr55Ser T55S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - -2 - 1 N - - B3GALT4 Ala372Ser A372S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - B3GNT3 Thr319Met T319M not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - B3GNT5 Arg2Lys R2K not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.72 - - -3 - 1 N - - BAAT Val137Ile V137I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.661 Y - -4 - 2 N - - BAIAP2L1 Arg313Ser R313S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.179 - - 3 - 0 N - - BAIAP2L1 Val112Met V112M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - BAIAP3 Gly399Ala G399A not reviewed Insufficiently evaluated not reviewed unknown Array 22 10738 0.0020488 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - BAMBI Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array rs72809669 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.073 - - -4 - 0 N - - BANK1 Trp40Cys W40C not reviewed Insufficiently evaluated not reviewed unknown Array rs35978636 141 10754 0.0131114 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - BANK1 Trp10Cys W10C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BANK1 Glu424Asp E424D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - BANK1 Glu527Asp E527D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - BANK1 Glu557Asp E557D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - BAT3 Glu287Val E287V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BAT3 Glu281Val E281V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BATF2 Gly139Asp G139D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - BBOX1 Arg51Trp R51W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BBS12 Val7Ile V7I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - BBS2 Ala504Val A504V not reviewed Insufficiently evaluated not reviewed unknown Array rs16957538 214 10758 0.0198922 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 1 - - BCAP29 Phe302Leu F302L not reviewed Insufficiently evaluated not reviewed unknown Array 285 10740 0.0265363 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCAR1 Ser524Gly S524G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCAS1 Val36Leu V36L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - BCKDHA Gln42Arg Q42R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.063 Y Y 0 - 2 N - - BCL11A Asn753Ile N753I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BCL2L14 Gln117Arg Q117R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - BCL9 Gly790Asp G790D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCO2 Gly289Glu G289E not reviewed Insufficiently evaluated not reviewed unknown Array rs17113607 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - BCO2 Gly255Glu G255E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - BCOR Asn1731Ile N1731I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 7 Y 2 N - - BCOR Asn1697Ile N1697I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BCOR Asn1679Ile N1679I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BDP1 Pro1669Gln P1669Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34529158 207 9548 0.0216799 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - BEST3 Tyr43His Y43H not reviewed Insufficiently evaluated not reviewed unknown Array rs1025016 661 9594 0.0688972 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 - 1 - - BICD1 Asp409Glu D409E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BICD2 Lys678Met K678M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - BIN2 Met125Val M125V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - BIN2 Ala70Gly A70G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - BIRC2 Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - BIRC2 Ala506Val A506V not reviewed Insufficiently evaluated not reviewed unknown Array rs34510872 420 10756 0.039048 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 2 - 2 - - BIRC5 Gly121Arg G121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BIRC8 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array 348 10758 0.032348 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - BLMH Gln243Glu Q243E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - BLVRA Leu48Ile L48I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.299 - - -2 - 1 N - - BMP6 Arg257His R257H not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - BMPER Arg582Gln R582Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - BMS1 Ala864Thr A864T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BNIP2 Pro209Leu P209L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BNIPL Arg107His R107H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BNIPL Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array rs61751620 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - BOD1L Val1645Ile V1645I not reviewed Insufficiently evaluated not reviewed unknown Array rs17807493 266 10758 0.0247258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 1 - 2 - - BRCA1 Arg1300Gly R1300G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Arg1306Gly R1306G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA1 Arg1347Gly R1347G benign Low clinical importance, Uncertain benign unknown Array rs28897689 46 10758 0.00427589 3 0 3 2 2 ! Y - - 2 Y - - - - - - Y - - - 0.991 Y Y 6 Y 5 - 7 0 0 Believed to be a nonpathogenic polymorphism, although Polyphen 2 predicts a damaging effect. BRD7 Ser473Cys S473C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - BRDT Arg605Gln R605Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35327986 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - BRWD1 Gly1864Stop G1864X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BRWD2 Glu988Lys E988K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRWD3 Arg1663Ser R1663S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BSDC1 Ser275Ile S275I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BSDC1 Ser258Ile S258I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 1 N - - BSDC1 Ser202Ile S202I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BSDC1 Ser163Ile S163I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BSDC1 Ile234Val I234V not reviewed Insufficiently evaluated not reviewed unknown Array 292 10712 0.0272591 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - BSDC1 Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array rs34885668 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - BSDC1 Ile178Val I178V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - BSDC1 Ile139Val I139V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - BSN Pro885Ser P885S not reviewed Insufficiently evaluated not reviewed unknown Array 131 10756 0.0121792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - BSN Arg2946Gln R2946Q not reviewed Insufficiently evaluated not reviewed unknown Array 105 10740 0.00977654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BSN Asp3235Tyr D3235Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BSPRY Arg210Trp R210W not reviewed Insufficiently evaluated not reviewed unknown Array 11 9754 0.00112774 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BSPRY Pro384Leu P384L not reviewed Insufficiently evaluated not reviewed unknown Array rs62620170 55 9858 0.00557922 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - BTBD1 Glu416Asp E416D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - -2 - 1 N - - BTBD12 Arg1761Cys R1761C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTD Pro391Ser P391S not reviewed Insufficiently evaluated not reviewed recessive Array rs35034250 183 10758 0.0170106 2 0 2 2 2 1 Y - - - - - - 4 Y 5 Y Y - - - - Y Y 3 - 3 N - - BTN2A1 Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 1 - 1 - - BTN2A1 Pro373Leu P373L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.259 - - 7 Y 1 N - - BVES His42Asp H42D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 3 - 1 - - BVES Ile15Val I15V not reviewed Insufficiently evaluated not reviewed unknown Array rs35952696 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - BZRAP1 Val1567Ala V1567A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BZRAP1 Val1627Ala V1627A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BZRAP1 Gln454Arg Q454R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - BZRAP1 Gln514Arg Q514R not reviewed Insufficiently evaluated not reviewed unknown Array rs2072145 345 10742 0.0321169 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - BZRAP1 Gly79Glu G79E not reviewed Insufficiently evaluated not reviewed unknown Array rs61743284 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.419 - - 6 Y 1 N - - C10ORF10 Thr101Ala T101A not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF119 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF12 Ser294Arg S294R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF137 Gln1135Arg Q1135R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF18 Met358Val M358V not reviewed Insufficiently evaluated not reviewed unknown Array rs45584541 282 10214 0.0276092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF18 Gly997Ser G997S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10046 0.00368306 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF18 Val1399Gly V1399G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF18 Ala1644Ser A1644S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF72 Tyr178Cys Y178C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF81 Gly117Asp G117D not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF81 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array rs7895622 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF2 Ser690Thr S690T not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C11ORF24 Thr287Pro T287P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C11ORF82 Lys557Asn K557N not reviewed Insufficiently evaluated not reviewed unknown Array rs35533646 24 10748 0.00223297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF82 Ile883Val I883V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C12ORF40 Ile315Thr I315T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF48 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array 264 10756 0.0245444 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF48 Gln136Lys Q136K not reviewed Insufficiently evaluated not reviewed unknown Array 293 10758 0.0272355 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF5 Leu217Phe L217F not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF50 Arg322His R322H not reviewed Insufficiently evaluated not reviewed unknown Array rs11104703 519 10758 0.0482432 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - C13ORF23 Val719Gly V719G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C13ORF23 Val697Gly V697G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF106 Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61741592 889 10758 0.0826362 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF21 Gly199Glu G199E not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF79 Thr311Ile T311I not reviewed Insufficiently evaluated not reviewed unknown Array rs34350817 113 9910 0.0114026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF24 Met167Leu M167L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C15ORF29 Glu277Lys E277K not reviewed Insufficiently evaluated not reviewed unknown Array rs34998154 68 10518 0.00646511 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF55 Asn924Ser N924S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737331 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF55 Thr129Ile T129I not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF62 Arg905Cys R905C not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C16ORF78 Arg175Ser R175S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF84 Met62Ile M62I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF89 Lys227Asn K227N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF92 Pro60Leu P60L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10072 0.000297855 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF92 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF93 Cys108Phe C108F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF46 Ala318Asp A318D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C17ORF47 Gly283Arg G283R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF48 Leu92Arg L92R not reviewed Insufficiently evaluated not reviewed unknown Array rs34940296 136 10756 0.0126441 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - C17ORF57 Tyr546Stop Y546X not reviewed Insufficiently evaluated not reviewed unknown Array 486 10754 0.0451925 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C17ORF61 Ala99Val A99V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736090 398 10758 0.0369957 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - C17ORF68 Ala934Asp A934D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C17ORF98 Gln47Arg Q47R not reviewed Insufficiently evaluated not reviewed unknown Array rs61752602 295 9988 0.0295354 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF1 Arg99His R99H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Arg62His R62H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Arg41His R41H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Ala275Thr A275T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Ala257Thr A257T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Ala217Thr A217T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF1 Ala199Thr A199T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF19 Leu58Stop L58X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C18ORF21 Ser31Trp S31W not reviewed Insufficiently evaluated not reviewed unknown Array rs61731892 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C18ORF34 Leu49Ile L49I not reviewed Insufficiently evaluated not reviewed unknown Array 197 10746 0.0183324 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C19ORF21 Tyr425Ser Y425S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF127 Leu465Pro L465P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF129 Tyr160His Y160H not reviewed Insufficiently evaluated not reviewed unknown Array rs16863872 610 9798 0.0622576 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C1ORF131 Met63Thr M63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF14 Val491Met V491M not reviewed Insufficiently evaluated not reviewed unknown Array rs12138972 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - C1ORF14 Val447Ala V447A not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF146 Cys65Arg C65R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF173 Leu883Ile L883I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF174 Arg221Stop R221X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1ORF190 Met60Leu M60L not reviewed Insufficiently evaluated not reviewed unknown Array rs62620991 271 10758 0.0251906 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C1ORF26 Gly141Val G141V not reviewed Insufficiently evaluated not reviewed unknown Array rs35563775 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF62 Glu743Gly E743G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF62 Ala139Val A139V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF63 Arg157Ser R157S not reviewed Insufficiently evaluated not reviewed unknown Array rs34484514 326 10758 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF71 Cys31Tyr C31Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF71 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2 Cys45Stop C45X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 10 - - C2 Cys177Stop C177X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C2 Met148Ile M148I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - C2 Met280Ile M280I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.36 - - -1 - 2 - 2 - - C20ORF152 Glu462Lys E462K not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF39 Asp162Asn D162N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF70 Lys113Glu K113E not reviewed Insufficiently evaluated not reviewed unknown Array rs17304572 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C20ORF71 Thr97Ala T97A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF85 Asp20Glu D20E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C21ORF63 Met437Val M437V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745002 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF28 Thr221Ile T221I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF16 Pro41Ser P41S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF16 Ser1741Arg S1741R not reviewed Insufficiently evaluated not reviewed unknown Array 74 9848 0.00751422 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF24 Thr348Pro T348P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C2ORF3 Ile553Asn I553N not reviewed Insufficiently evaluated not reviewed unknown Array rs41286003 70 10756 0.006508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF3 Arg144His R144H not reviewed Insufficiently evaluated not reviewed unknown Array rs41286007 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF63 Ala46Ser A46S not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF67 His334Tyr H334Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF71 Glu611Asp E611D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C2ORF86 Gly268Ser G268S not reviewed Insufficiently evaluated not reviewed unknown Array rs17617459 425 9604 0.0442524 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - C2ORF86 Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - C3 Gln216Glu Q216E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.204 Y - -2 - 3 - 4 - - C3ORF15 Val609Gly V609G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C3ORF39 Arg407Trp R407W not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF54 Arg276His R276H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10722 0.000186532 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF70 Ala211Ser A211S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C4ORF17 Gly16Ala G16A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4ORF37 Ser365Tyr S365Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C4ORF39 His62Asp H62D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4ORF50 Leu233Phe L233F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5 His473Arg H473R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 1 - 2 - 2 - - C5 Arg449Gly R449G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230213 363 10758 0.0337423 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 1 - 2 - - C5ORF23 Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array rs61742517 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF33 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF33 Arg211His R211H not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF4 Leu253Phe L253F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10448 0.00047856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF41 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF41 Gly119Asp G119D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF42 Pro675Leu P675L not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6 Lys763Arg K763R not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - -3 - 0 N - - C6 Thr226Ile T226I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734261 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 1 - 10 - - C6ORF114 Phe52Leu F52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF134 Gly313Val G313V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF146 Met442Val M442V not reviewed Insufficiently evaluated not reviewed unknown Array rs10485172 1335 10758 0.124094 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 3 - - C6ORF146 Gly45Val G45V not reviewed Insufficiently evaluated not reviewed unknown Array 362 10758 0.0336494 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF15 Gly48Arg G48R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233976 806 10622 0.0758802 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 1 - - C6ORF167 Thr1056Pro T1056P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF167 Val221Gly V221G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF186 Arg315Gln R315Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 7820 0.00268542 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF192 Gly73Ser G73S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10738 0.000558763 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF221 Glu97Gln E97Q not reviewed Insufficiently evaluated not reviewed unknown Array rs564533 955 10758 0.0887711 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 - 1 - - C6ORF58 Cys308Gly C308G not reviewed Insufficiently evaluated not reviewed unknown Array rs9491833 150 10638 0.0141004 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 4 - - C6ORF89 His310Arg H310R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF27 Cys289Ser C289S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF58 Glu708Gly E708G not reviewed Insufficiently evaluated not reviewed unknown Array rs35793694 733 10758 0.0681353 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 - 2 - - C7ORF63 Gly872Arg G872R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF63 Gly890Arg G890R not reviewed Insufficiently evaluated not reviewed unknown Array 5 9660 0.000517598 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C7ORF63 Thr941Met T941M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9504 0.000105218 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF63 Thr923Met T923M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF65 Val64Leu V64L not reviewed Insufficiently evaluated not reviewed unknown Array 101 7820 0.0129156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF131 Met15Ile M15I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742471 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF47 Ser154Asn S154N not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C9ORF47 Ser173Asn S173N not reviewed Insufficiently evaluated not reviewed unknown Array rs34421923 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - C9ORF50 Lys415Arg K415R not reviewed Insufficiently evaluated not reviewed unknown Array rs3087721 456 10758 0.0423871 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF61 Ala295Ser A295S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF64 Ser136Tyr S136Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61735426 115 10758 0.0106897 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF64 Ser120Trp S120W not reviewed Insufficiently evaluated not reviewed unknown Array rs7848149 152 10754 0.0141343 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF66 Thr23Ile T23I not reviewed Insufficiently evaluated not reviewed unknown Array 367 10736 0.0341841 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF71 Val21Ile V21I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF82 Glu315Lys E315K not reviewed Insufficiently evaluated not reviewed unknown Array rs41271167 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Arg59Lys R59K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF84 Arg98Lys R98K not reviewed Insufficiently evaluated not reviewed unknown Array rs41308926 506 10752 0.047061 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF93 Ile17Asn I17N not reviewed Insufficiently evaluated not reviewed unknown Array rs443563 1029 10738 0.0958279 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C9ORF93 Lys477Gln K477Q not reviewed Insufficiently evaluated not reviewed unknown Array 212 10674 0.0198613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CABC1 Glu176Lys E176K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 1 - - CABLES1 Pro465Thr P465T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - CABLES1 Pro200Thr P200T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CABP5 Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34362586 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - CACNA1S Ser1200Cys S1200C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CACNB2 Ala103Gly A103G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.667 - - 1 - 1 N - - CACNB2 Ala48Gly A48G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNB2 Ala49Gly A49G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNB2 Ala55Gly A55G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNB2 Ala75Gly A75G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNG5 Ala206Val A206V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CADM1 Thr233Ile T233I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - CALHM1 Gly330Asp G330D not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - CALM3 Leu117Gln L117Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CAMK2D Pro444Ser P444S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CAMK2D Pro455Ser P455S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAMK2D Pro458Ser P458S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAMSAP1L1 Thr297Ala T297A not reviewed Insufficiently evaluated not reviewed unknown Array rs41306231 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAND1 Leu974Met L974M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - -3 - 0 N - - CAPN7 Ile110Val I110V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.146 - - -4 - 1 - 1 - - CAPN7 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array rs35247476 511 10758 0.0474995 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CAPN9 Phe449Ile F449I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - CAPN9 Phe423Ile F423I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAPS2 Asp404Asn D404N not reviewed Insufficiently evaluated not reviewed unknown Array 137 10754 0.0127394 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - CARD14 Arg682Trp R682W not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CARD17 Met51Thr M51T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.876 - - 2 - 2 N - - CARD6 Val174Ala V174A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CARD6 Ser354Arg S354R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASD1 Phe563Leu F563L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - CASP1 Ser209Leu S209L not reviewed Insufficiently evaluated not reviewed unknown Array rs61755276 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 1 - - CASP1 Ser188Leu S188L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CASP1 Ser116Leu S116L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CASP10 Ile185Arg I185R pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 1 128 0.0078125 1 0 1 0 0 1 Y - - 0 Y - - 3 Y 1 - Y - - - 0.98 Y Y 7 Y 4 N 1 0 No reports for this variant, predicted to be damaging by Polyphen 2. Other damaging variants in this gene are reported to cause autoimmune lymphoproliferative syndrome. CASP14 Glu135Lys E135K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - CASP2 Gln75Stop Q75X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CASP2 Val172Leu V172L not reviewed Insufficiently evaluated not reviewed unknown Array rs4647297 609 10758 0.056609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 9 - - CASP9 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array rs2308950 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.346 - - 1 - 2 - 8 - - CASP9 Thr102Ile T102I not reviewed Insufficiently evaluated not reviewed unknown Array rs2308941 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 1 - 7 - - CASR Glu133Asp E133D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -2 - 1 N - - CATSPER2 Leu218Val L218V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 - Y 0 - 3 N - - CATSPER4 Leu124Phe L124F not reviewed Insufficiently evaluated not reviewed unknown Array rs12138368 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CATSPERB Pro866Arg P866R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CATSPERB Lys734Arg K734R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - CBFA2T2 Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBS Thr460Met T460M pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 1 Y - - 0 Y 0 Y 4 Y 3 Y Y - - - 0.998 Y Y 2 - 4 N 2 0 Unpublished data suggests this variant causes homocystinuria in a recessive manner, and Polyphen 2 predicts a damaging effect. Without more data we are unable to determine if the unpublished report had any statistical significance supporting it. CCBL2 Val366Asp V366D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.912 - - 8 Y 2 N - - CCBL2 Val332Asp V332D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC108 Asn1406Asp N1406D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC109B Met261Val M261V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC114 Ala521Thr A521T not reviewed Insufficiently evaluated not reviewed unknown Array 107 10700 0.01 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC116 Ser155Arg S155R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - CCDC134 Gly93Glu G93E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 6 Y 1 N - - CCDC135 Arg562Cys R562C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.378 - - 8 Y 1 N - - CCDC135 Ser580Pro S580P not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 3 - 1 - 2 - - CCDC147 Phe154Ser F154S not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - CCDC151 Phe58Ser F58S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741137 79 9936 0.00795089 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - CCDC18 Leu328Phe L328F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC28A Ser42Tyr S42Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34538642 654 10758 0.060792 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 2 - - CCDC36 Gly593Ser G593S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC38 Val203Leu V203L not reviewed Insufficiently evaluated not reviewed unknown Array rs75959092 996 10758 0.0925823 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - CCDC42 Arg128Cys R128C not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC47 Ala40Thr A40T not reviewed Insufficiently evaluated not reviewed unknown Array rs36034985 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - CCDC63 Arg544Leu R544L not reviewed Insufficiently evaluated not reviewed unknown Array rs116604830 131 10758 0.012177 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.112 - - 6 Y 0 N - - CCDC65 Val340Ala V340A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC76 Asn152Asp N152D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 1 N - - CCDC77 Arg20His R20H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CCDC77 Phe356Val F356V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC77 Phe388Val F388V not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CCDC81 His303Gln H303Q not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.305 - - -1 - 1 N - - CCDC81 His213Gln H213Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736174 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC81 Leu558Arg L558R not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - CCDC81 Leu468Arg L468R not reviewed Insufficiently evaluated not reviewed unknown Array rs35587986 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC82 Arg211His R211H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - CCDC83 Ile364Thr I364T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC87 Met816Ile M816I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - CCDC87 Leu738Arg L738R not reviewed Insufficiently evaluated not reviewed unknown Array rs62000969 384 10758 0.0356944 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 3 - 1 - - CCDC87 Arg447Trp R447W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - CCDC89 Glu134Gly E134G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CCDC99 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CCHCR1 Arg417Gln R417Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CCHCR1 Arg470Gln R470Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CCHCR1 Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array rs130069 275 7522 0.0365594 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - CCHCR1 Leu179Gln L179Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 2 - - CCHCR1 Leu232Gln L232Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - CCHCR1 Leu268Gln L268Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11540822 453 7516 0.0602714 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 - 1 - - CCHCR1 Glu41Stop E41X not reviewed Insufficiently evaluated not reviewed unknown Array rs72856718 499 6884 0.0724869 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CCIN Arg264Gln R264Q not reviewed Insufficiently evaluated not reviewed unknown Array 359 10758 0.0333705 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.247 - - 0 - 1 N - - CCIN Arg485Trp R485W not reviewed Insufficiently evaluated not reviewed unknown Array rs45579743 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - CCNA1 Glu253Gly E253G not reviewed Insufficiently evaluated not reviewed unknown Array 430 10758 0.0399703 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CCNA1 Glu252Gly E252G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCNA1 Glu209Gly E209G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCNB3 Ala739Pro A739P not reviewed Insufficiently evaluated not reviewed unknown Array 10 8759 0.00114168 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCPG1 Val185Ile V185I not reviewed Insufficiently evaluated not reviewed unknown Array rs35101262 100 9684 0.0103263 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - CCR7 Thr91Ile T91I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - CCR7 Met7Val M7V not reviewed Insufficiently evaluated not reviewed unknown Array rs45521932 295 10758 0.0274215 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.364 - - 0 - 2 - 6 - - CCR8 Cys43Ser C43S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.51 - - 3 - 1 N - - CCT2 Ala80Pro A80P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.61 - - 2 - 1 N - - CD109 Thr701Ser T701S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD109 Thr778Ser T778S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD163L1 Gly1055Ser G1055S not reviewed Insufficiently evaluated not reviewed unknown Array rs36206713 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - CD163L1 Leu647Ile L647I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD1A Val280Gly V280G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CD1A Arg324Cys R324C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CD248 Glu342Asp E342D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - CD44 Thr393Met T393M not reviewed Insufficiently evaluated not reviewed unknown Array rs11607491 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 7 - - CD44 Thr350Met T350M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 6 - - CD97 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.185 - - 7 Y 0 N - - CDAN1 Arg1065Gln R1065Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61746356 111 10720 0.0103545 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - CDC42BPG Ala1048Thr A1048T not reviewed Insufficiently evaluated not reviewed unknown Array rs11231887 352 10738 0.0327808 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 3 - 1 - - CDC5L Ile279Phe I279F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - CDC5L Leu280Pro L280P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 7 Y 1 - 1 - - CDC7 Lys212Thr K212T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.323 - - 3 - 1 N - - CDCA2 Thr50Ile T50I not reviewed Insufficiently evaluated not reviewed unknown Array 236 10758 0.0219372 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDGAP Asp845Val D845V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDH10 His50Asp H50D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 3 - 1 N - - CDH18 Tyr764His Y764H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.875 - - -1 - 2 N - - CDH18 Ser752Leu S752L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 6 Y 1 N - - CDH19 Cys19Ser C19S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10756 0.00715879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 3 - 2 N - - CDH20 Ser34Leu S34L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDH20 Thr182Pro T182P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 2 N - - CDH26 Arg301Gly R301G not reviewed Insufficiently evaluated not reviewed unknown Array rs11086690 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 1 - 2 - - CDH26 Gln711Arg Q711R not reviewed Insufficiently evaluated not reviewed unknown Array rs41310817 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDH26 Gln44Arg Q44R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDH4 Ile690Met I690M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - -1 - 1 N - - CDH9 Ser469Ile S469I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CDKL5 Thr484Ile T484I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - 3 - 1 N - - CDON Ser875Gly S875G not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.029 - - 2 - 0 N - - CDON Thr684Ser T684S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - CDON Arg437His R437H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - CDON Glu242Lys E242K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 3 - 1 - - CDR1 Ile19Val I19V not reviewed Insufficiently evaluated not reviewed unknown Array rs41299075 894 8761 0.102043 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CEACAM1 Gly436Val G436V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - CEACAM4 Thr217Pro T217P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.263 - - 4 Y 1 N - - CEACAM5 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 252 10758 0.0234244 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 3 - 2 - - CEACAM5 Ser614Pro S614P not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - CELSR2 Gly169Glu G169E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 6 Y 1 N - - CELSR3 Arg3002Gln R3002Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CELSR3 Ala255Asp A255D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEMP1 Thr27Pro T27P not reviewed Insufficiently evaluated not reviewed unknown Array 358 10250 0.0349268 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CENPE Arg1597Ser R1597S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751594 48 10754 0.00446346 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - CENPF Leu1412Stop L1412X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 4 - - CENPF Thr2368Ile T2368I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CENPJ Glu70Gly E70G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.972 - Y 6 Y 3 N - - CENPT Ser8Arg S8R not reviewed Insufficiently evaluated not reviewed unknown Array rs11558534 294 10116 0.0290629 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 1 - 1 - - CEP110 Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - CEP110 Leu954Ser L954S not reviewed Insufficiently evaluated not reviewed unknown Array 86 10756 0.00799554 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CEP110 Ile1407Val I1407V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CEP120 Arg947His R947H not reviewed Insufficiently evaluated not reviewed unknown Array rs2303720 365 10758 0.0339282 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - CEP120 Lys371Arg K371R not reviewed Insufficiently evaluated not reviewed unknown Array 46 9660 0.0047619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CEP135 Arg331Thr R331T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP192 Leu798Phe L798F not reviewed Insufficiently evaluated not reviewed unknown Array rs61740922 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 2 N - - CEP250 His1917Arg H1917R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CEP250 His1861Arg H1861R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP250 Glu2015Lys E2015K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP250 Glu2071Lys E2071K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729986 94 10758 0.00873768 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP68 His79Pro H79P not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - CEP70 Ser31Asn S31N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP76 Ala474Pro A474P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - CEP76 Pro5Ser P5S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - CER1 Val179Leu V179L not reviewed Insufficiently evaluated not reviewed unknown Array rs7036635 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 3 - 6 - - CER1 Gly72Val G72V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 8 Y 0 N - - CERCAM Thr571Pro T571P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 4 Y 1 N - - CES1 Ser76Asn S76N not reviewed Insufficiently evaluated not reviewed unknown Array rs2307240 540 10758 0.0501952 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 10 - - CES1 Ser75Asn S75N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 1 - 10 - - CES7 Arg176Trp R176W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - CFDP1 Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array rs16963331 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 1 - 2 - - CFH Leu761His L761H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.07 Y Y 6 Y 2 N - - CFH Gln950His Q950H pathogenic High clinical importance, Uncertain pathogenic dominant Array 47 10758 0.00436884 1 0 1 1 1 2 Y - - 0 Y - - 4 Y - - Y - - - 0.985 Y Y -1 - Atypical Hemolytic-Uremic Syndrome 1 100 0 106 INF 5 - 3 2 0 This rare variant was found heterozygously (presumed acting in a dominant manner) in a single sporadic case of atypical hemolytic-uremic syndrome — a potentially lethal medical emergency, usually occurring in childhood. Although predicted to be disruptive, observations of the variant lack statistical significance. CFTR Ser1235Arg S1235R pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs34911792 57 10758 0.00529838 1 0 1 2 2 1 Y - - 0 Y - - 3 Y 1 - Y - - - 0.243 Y Y 3 - 4 - 9 1 0 Reported to cause mild dysfunction of the cystic fibrosis gene, it may result in cystic fibrosis when combined with more severe variants. CGGBP1 Phe4Ser F4S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.679 - - 5 Y 1 N - - CGN Glu226Asp E226D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - CGN Arg485Gln R485Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12038198 249 10758 0.0231456 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 3 - 5 - - CGN Ala940Thr A940T not reviewed Insufficiently evaluated not reviewed unknown Array rs41272467 231 10758 0.0214724 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CH25H Gln83Glu Q83E not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - -2 - 1 N - - CHAF1A Leu130Phe L130F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD1L Ile827Val I827V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - CHD3 Val1500Gly V1500G not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CHD3 Val1441Gly V1441G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - CHI3L1 Ile54Phe I54F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.499 - - 2 - 1 N - - CHI3L1 Leu50Pro L50P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CHI3L2 Val184Ile V184I not reviewed Insufficiently evaluated not reviewed unknown Array rs34049547 92 10756 0.00855337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.69 - - -4 - 2 - 2 - - CHI3L2 Val174Ile V174I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CHI3L2 Val105Ile V105I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - CHKA Glu170Gly E170G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHKB Gln328Arg Q328R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHORDC1 Thr298Ala T298A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 1 - 0 N - - CHORDC1 Thr279Ala T279A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRM2 Asn258Ser N258S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHST13 Ser79Gly S79G not reviewed Insufficiently evaluated not reviewed unknown Array rs12495696 364 10062 0.0361757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 1 - 4 - - CIB1 Thr23Lys T23K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CIDEC Thr49Met T49M not reviewed Insufficiently evaluated not reviewed unknown Array rs61742367 230 10542 0.0218175 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - CILP2 Asn258Ser N258S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CIR Ser343Arg S343R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CKAP5 Thr1854Met T1854M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CKAP5 Thr1914Met T1914M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLCA2 Val80Ile V80I not reviewed Insufficiently evaluated not reviewed unknown Array rs11580625 326 10722 0.0304048 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.083 - - -4 - 1 - 2 - - CLCN5 Arg309Cys R309C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - CLCN5 Arg239Cys R239C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 3 - 1 - - CLDN22 Asn35Ile N35I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - CLEC12A Asp173Gly D173G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLEC12A Asp206Gly D206G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLEC14A Gly350Stop G350X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLEC2D Pro179Ala P179A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC4A Gly41Arg G41R not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.759 - - 6 Y 1 N - - CLEC9A Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array 362 10758 0.0336494 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLIP1 Ser930Pro S930P not reviewed Insufficiently evaluated not reviewed unknown Array rs17883517 733 10756 0.068148 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CLIP1 Ser895Pro S895P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLIP1 Glu739Lys E739K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CLIP1 Glu774Lys E774K not reviewed Insufficiently evaluated not reviewed unknown Array rs61954403 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLIP1 Leu271Phe L271F not reviewed Insufficiently evaluated not reviewed unknown Array 2228 10758 0.207102 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 1 N - - CLIP4 Leu658Ile L658I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - CLK1 Arg407Trp R407W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLN5 Asn242Lys N242K not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CLOCK Ser208Cys S208C not reviewed Insufficiently evaluated not reviewed unknown Array rs34897046 410 10748 0.0381466 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 1 - 8 - - CLSPN Glu670Gly E670G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLYBL Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array rs35680839 347 10758 0.0322551 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - -4 - 1 - 2 - - CMKLR1 Ile60Ser I60S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CMKLR1 Ile62Ser I62S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10158 0.00433156 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 5 Y 2 N - - CMTM5 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMTM5 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNGA2 Arg399Gln R399Q not reviewed Insufficiently evaluated not reviewed unknown Array 292 8761 0.0333295 7 0 11 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 3 - 3 - - CNGB1 Ala961Ser A961S not reviewed Insufficiently evaluated not reviewed unknown Array rs16942445 318 10290 0.0309038 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CNGB3 Leu498Met L498M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.307 Y Y -3 - 3 N - - CNGB3 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.057 Y Y 6 Y 3 Y - - CNOT1 Pro1807His P1807H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - CNOT10 Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array rs11558687 317 10756 0.0294719 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.478 - - -2 - 2 - 2 - - CNOT10 Tyr541Phe Y541F not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 2 N - - CNTD1 Gly308Val G308V not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 8 Y 0 N - - CNTN3 Arg867Gln R867Q not reviewed Insufficiently evaluated not reviewed unknown Array 283 10758 0.026306 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - CNTNAP2 Cys181Trp C181W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CNTNAP2 His764Pro H764P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - COBRA1 Leu242Ile L242I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - COG1 Gln301His Q301H not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.849 Y Y -1 - 3 N - - COG1 Thr350Met T350M benign Low clinical importance, Uncertain benign unknown Array 70 10758 0.00650678 1 0 1 0 0 ! Y - - 3 Y - - - - - - Y - - - 0.978 Y Y 2 - 4 N 0 0 Uncertain, presumed benign. Seen in 2 out of 128 control chromosomes. Although predicted to be damaging by Polyphen 2, recessive disease caused by disruption of this gene is presumed extremely rare and the only report of a disease-causing mutation in this gene was a frameshift (much more severe). COG6 Lys382Arg K382R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10678 0.000561902 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - -3 - 0 N - - COL11A2 Pro1722Leu P1722L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229792 129 7518 0.0171588 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A2 Pro1636Leu P1636L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A2 Pro1615Leu P1615L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL12A1 Glu996Val E996V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - COL12A1 Glu2160Val E2160V not reviewed Insufficiently evaluated not reviewed unknown Array rs35523808 344 9730 0.0353546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 5 Y 1 - 3 - - COL12A1 Arg1742His R1742H not reviewed Insufficiently evaluated not reviewed unknown Array 186 9814 0.0189525 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - COL12A1 Arg578His R578H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL12A1 Met1435Thr M1435T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL12A1 Met271Thr M271T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL14A1 Ile1373Thr I1373T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754507 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - 3 - 0 N - - COL18A1 Gly173Ser G173S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10012 0.00289652 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - COL18A1 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10088 0.00862411 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL24A1 Thr854Arg T854R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.799 - - 3 - 1 N - - COL2A1 Asn1357Asp N1357D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL2A1 Asn1426Asp N1426D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL4A2 Pro1307Arg P1307R not reviewed Insufficiently evaluated not reviewed unknown Array 20 9598 0.00208377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - COL4A6 Ala1254Ser A1254S not reviewed Insufficiently evaluated not reviewed unknown Array 59 8761 0.00673439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL4A6 Ala1255Ser A1255S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL5A2 Thr1230Arg T1230R not reviewed Insufficiently evaluated not reviewed unknown Array rs62184175 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp2625His D2625H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp2630His D2630H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp2631His D2631H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp2664His D2664H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp2831His D2831H benign Low clinical importance, Likely benign unknown Array rs36104025 730 10758 0.0678565 6 0 6 2 2 1 Y - - 3 Y 1 Y - - - - Y - - - - Y Y 3 - 3 Y 0 1 Probably benign, reported by Pan et al. as a presumed-nonpathogenic variant in the gene. COL6A3 Val1158Met V1158M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Val1163Met V1163M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Val1164Met V1164M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Val1364Met V1364M not reviewed Insufficiently evaluated not reviewed unknown Array rs35524572 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL7A1 Pro1277Leu P1277L benign Low clinical importance, Uncertain benign unknown Array rs35761247 438 10758 0.0407139 4 0 4 0 0 ! Y - - 5 Y - - - - - - Y - - - - Y Y 7 Y 4 Y 0 0 Polymorphism, presumed benign. COLEC11 Arg17Trp R17W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COLEC11 Ala46Val A46V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COMMD1 Lys82Glu K82E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - COPA Ala1138Val A1138V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COPA Ala1147Val A1147V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COPA Ala1138Thr A1138T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COPA Ala1147Thr A1147T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COPA Phe787Ser F787S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COPA Phe778Ser F778S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COPG Ile55Thr I55T not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.547 - - 3 - 1 N - - COPG Pro737Thr P737T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 4 Y 1 N - - COPS7A Lys23Asn K23N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - CORO2A Leu497Ile L497I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 2 N - - COX8A Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 31 10748 0.00288426 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 8 Y 0 N - - CP110 Gln512Arg Q512R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPAMD8 Glu627Asp E627D not reviewed Insufficiently evaluated not reviewed unknown Array 71 9988 0.00710853 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CPEB2 Ser396Gly S396G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPEB2 Ser426Gly S426G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - CPEB3 Thr12Pro T12P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 4 Y 0 N - - CPO Ser220Asn S220N not reviewed Insufficiently evaluated not reviewed unknown Array rs62617140 385 10758 0.0357873 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 0 - 0 N - - CPS1 Ala661Gly A661G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CPS1 Ala655Gly A655G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.401 Y Y 1 - 3 N - - CPS1 Ala204Gly A204G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CPS1 Ala1119Thr A1119T not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - CPS1 Ala1125Thr A1125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CPS1 Ala668Thr A668T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CPSF2 Glu718Gly E718G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 6 Y 2 N - - CPT1C Ala357Ser A357S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - CPT1C Ala346Ser A346S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPT1C Ala639Thr A639T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPT1C Ala628Thr A628T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CR2 Gly563Arg G563R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - CR2 Trp766Stop W766X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CR2 Trp707Stop W707X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CRB1 His1199Arg H1199R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.104 Y Y 1 - 2 N - - CRB2 Pro433Ser P433S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - CREB3L2 Gln50Glu Q50E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CRIM1 Ile135Met I135M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - CROCC Asp463Tyr D463Y not reviewed Insufficiently evaluated not reviewed unknown Array 339 10738 0.0315701 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - CRX Ser212Arg S212R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.863 Y Y 3 - 4 N - - CRYBA1 Asn120Ile N120I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - CRYBB3 Glu183Stop E183X not reviewed Insufficiently evaluated not reviewed unknown Array 16 10752 0.0014881 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CS Leu409Ile L409I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.817 - - -2 - 2 - 7 - - CSF2RB Thr40Pro T40P not reviewed Insufficiently evaluated not reviewed unknown Array 1585 10758 0.147332 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.269 - - 4 Y 0 N - - CSF3R Glu58Asp E58D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSGALNACT1 Val137Ile V137I not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 3 - - CSGALNACT2 Val478Asp V478D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.05 - - 8 Y 0 N - - CSK Lys366Glu K366E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.58 - - 0 - 1 N - - CSMD3 Lys2667Arg K2667R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 1 N - - CSMD3 Lys2627Arg K2627R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CSMD3 Lys2563Arg K2563R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CSMD3 Asn966Ser N966S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.791 - - 0 - 1 N - - CSMD3 Asn902Ser N902S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD3 Asn1006Ser N1006S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.122 - - 0 - 0 N - - CSNK1G1 Glu10Lys E10K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - CSPG4 Pro1388Ser P1388S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - CTBP2 Met99Leu M99L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTBP2 Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - CTDP1 Leu590Phe L590F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - CTNNA2 Pro200Leu P200L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 7 Y 0 N - - CTNNA3 Ser160Thr S160T not reviewed Insufficiently evaluated not reviewed unknown Array rs61749223 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CTNNBIP1 Pro57Gln P57Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CTSD Val272Gly V272G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.959 Y Y 8 Y 4 N - - CUZD1 Phe344Leu F344L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - CUZD1 Ile285Thr I285T not reviewed Insufficiently evaluated not reviewed unknown Array rs36212072 69 10756 0.00641502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - CXORF22 Ile67Leu I67L not reviewed Insufficiently evaluated not reviewed unknown Array 181 8759 0.0206645 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CXORF27 Met110Ile M110I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYBB Gly364Arg G364R not reviewed Insufficiently evaluated not reviewed unknown Array 28 8759 0.00319671 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.108 Y - 6 Y 1 N - - CYFIP1 Phe638Ile F638I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - CYFIP1 Phe207Ile F207I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYHR1 Trp141Ser W141S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP11A1 Glu114Stop E114X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP1B1 Leu343Val L343V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 0 - 2 N - - CYP20A1 His382Tyr H382Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CYP24A1 Arg396Trp R396W pathogenic Moderate clinical importance, Likely pathogenic recessive Array rs114368325 7 10758 0.000650678 1 0 1 1 1 2 Y 0 - 5 - - - 3 - 4 Y - - - - 1.0 - - 7 Y 2 N 1 1 Several report strongly confirm this is associated with hypercalcemia of infancy, acting in a recessive manner. The condition is rare, and is described as "idiopathic" (sporadic) – it's unclear what the risk is for the condition, if an individual carries homozygous or compound heterozygous genotype. CYP2A6 Lys476Arg K476R not reviewed Insufficiently evaluated not reviewed unknown Array 86 10756 0.00799554 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 9 - - CYP2A7 Ser294Thr S294T not reviewed Insufficiently evaluated not reviewed unknown Array 252 10758 0.0234244 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 1 - - CYP2A7 Ser243Thr S243T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2C18 Phe65Ile F65I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2C19 Glu92Asp E92D not reviewed Insufficiently evaluated not reviewed unknown Array rs17878459 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 10 - - CYP2F1 Pro490Leu P490L not reviewed Insufficiently evaluated not reviewed unknown Array rs7246981 543 10724 0.0506341 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 - 7 - - CYP4F3 Asp211Ala D211A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.818 - - 5 Y 1 N - - CYTL1 Ser51Leu S51L not reviewed Insufficiently evaluated not reviewed unknown Array rs35755546 165 10746 0.0153546 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 2 - - DAGLB Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - DARC Ser328Phe S328F not reviewed Insufficiently evaluated not reviewed unknown Array rs17851570 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DARC Ser326Phe S326F not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DARS2 Gly338Glu G338E not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.091 Y - 6 Y 1 N - - DBC1 Ser641Leu S641L not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - DBF4B Leu412Pro L412P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 7 Y 1 N - - DBNDD2 Thr115Ile T115I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DBX2 Ala220Val A220V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.942 - - 2 - 2 N - - DCC Val862Ile V862I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.102 - - -4 - 0 N - - DCHS1 Arg2827Pro R2827P not reviewed Insufficiently evaluated not reviewed unknown Array rs35599968 564 10746 0.0524846 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.167 - - 5 Y 1 - 1 - - DCHS2 Arg1438Leu R1438L not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - DCLRE1A Asn642Asp N642D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - DCLRE1C Ala438Ser A438S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.039 Y - -1 - 1 N - - DCLRE1C Ala323Ser A323S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCLRE1C Ala318Ser A318S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCP1B Asn195Asp N195D not reviewed Insufficiently evaluated not reviewed unknown Array rs12423058 291 10758 0.0270496 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.859 - - -1 - 3 - 4 - - DCST2 Lys178Ile K178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - DCST2 Lys178Stop K178X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DCTN1 Arg915Gln R915Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DCTN1 Arg1049Gln R1049Q benign Low clinical importance, Uncertain benign unknown Array rs72659383 15 10758 0.00139431 1 0 1 1 1 ! Y - - - - 1 Y - - - - Y - - - 0.996 Y - 0 - 4 - 1 0 0 Although rare and predicted to have a damaging effect, Vilarino-Guell et al. find the variant did not segregate with neurological disease and conclude it is not deleterious. DCTN1 Arg1029Gln R1029Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DCTN3 Arg145His R145H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCX Ala57Pro A57P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 10 - - DDI1 Ser63Ala S63A not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.075 - - -1 - 0 N - - DDIT3 Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - DDIT4L Ser161Phe S161F not reviewed Insufficiently evaluated not reviewed unknown Array rs11553154 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 1 - 2 - - DDO His235Gln H235Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDO His294Gln H294Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDR1 Val799Met V799M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDR1 Val836Met V836M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDR1 Val842Met V842M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX10 Thr284Pro T284P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - DDX19A Lys186Arg K186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DDX26B Gly685Asp G685D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 4 Y 2 N - - DDX46 Val247Leu V247L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DDX47 Ala428Ser A428S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX47 Ala379Ser A379S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX52 Lys509Arg K509R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DDX52 Lys401Arg K401R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DDX53 Met381Ile M381I not reviewed Insufficiently evaluated not reviewed unknown Array rs5925720 700 8761 0.0798996 4 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 1 N - - DDX55 Ser350Arg S350R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - DEFA6 Gln41Stop Q41X not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DEFB116 Ser28Thr S28T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.75 - - -2 - 1 N - - DEFB124 Tyr58Cys Y58C not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - DEFB132 Pro63Gln P63Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.185 - - 4 Y 1 - 2 - - DEGS1 Asn267Ser N267S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732863 79 10756 0.00734474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND2A Ile777Thr I777T not reviewed Insufficiently evaluated not reviewed unknown Array rs6464833 1808 10388 0.174047 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DENND2C Ile56Leu I56L not reviewed Insufficiently evaluated not reviewed unknown Array rs61752477 254 10758 0.0236103 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DENND3 Lys17Glu K17E not reviewed Insufficiently evaluated not reviewed unknown Array rs307771 345 10756 0.0320751 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - DENND4C Val1064Ala V1064A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - DENND5A Lys477Glu K477E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - DFFA Lys125Arg K125R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - -3 - 0 N - - DFNB31 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DHRS12 Ser39Leu S39L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DIDO1 Phe730Ile F730I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DISP1 Cys688Phe C688F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 4 Y 2 N - - DISP1 Ser1163Gly S1163G not reviewed Insufficiently evaluated not reviewed unknown Array rs61743732 295 10758 0.0274215 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DISP2 Tyr375Phe Y375F not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - -4 - 2 N - - DKK2 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs35290077 269 10758 0.0250046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.799 - - 6 Y 1 N - - DLC1 Ala987Asp A987D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DLC1 Ala1424Asp A1424D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DLEC1 Leu889Pro L889P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 7 Y 2 N - - DLG1 Asp666Glu D666E not reviewed Insufficiently evaluated not reviewed unknown Array rs35430440 105 10752 0.00976562 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DLG1 Lys140Arg K140R not reviewed Insufficiently evaluated not reviewed unknown Array rs1802668 348 10756 0.032354 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.068 - - -3 - 1 - 4 - - DLG5 Leu36Pro L36P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 7 Y 2 N - - DLK2 Ala84Gly A84G not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.103 - - 1 - 1 - 1 - - DLL1 Glu522Lys E522K not reviewed Insufficiently evaluated not reviewed unknown Array 37 10496 0.00352515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - DMTF1 Ala8Pro A8P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMTF1 Ala96Pro A96P not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMXL1 Ile2000Val I2000V not reviewed Insufficiently evaluated not reviewed unknown Array 185 10754 0.0172029 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH2 Leu1203Ile L1203I not reviewed Insufficiently evaluated not reviewed unknown Array 251 10758 0.0233315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - DNAH2 Asp1504Asn D1504N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH2 Asp2210Asn D2210N not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - DNAH2 Thr3674Pro T3674P not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.526 - - 4 Y 1 N - - DNAH3 Asn3110Ser N3110S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - DNAH3 His2866Arg H2866R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - DNAH3 Tyr298His Y298H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - DNAH7 Asn3852Ser N3852S not reviewed Insufficiently evaluated not reviewed unknown Array 164 9550 0.0171728 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.206 - - 0 - 1 N - - DNAH7 Arg3634Gln R3634Q not reviewed Insufficiently evaluated not reviewed unknown Array 189 10682 0.0176933 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - DNAH7 Ala514Thr A514T not reviewed Insufficiently evaluated not reviewed unknown Array 35 9480 0.00369198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH8 Ser97Pro S97P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - DNAH8 Pro531Leu P531L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DNAH8 Ile2563Thr I2563T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - DNAH8 Thr3707Met T3707M not reviewed Insufficiently evaluated not reviewed unknown Array rs61757218 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - DNAH9 Arg2162Lys R2162K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743635 863 10758 0.0802194 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - DNAH9 Leu2823Met L2823M not reviewed Insufficiently evaluated not reviewed unknown Array rs61746582 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -3 - 2 N - - DNAJB5 Val327Asp V327D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - DNAJB5 Val361Asp V361D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAJB5 Val399Asp V399D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAJC18 Tyr306His Y306H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - DNAJC18 Ile304Leu I304L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.823 - - -2 - 1 N - - DNAJC18 Cys38Trp C38W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - DNAJC22 Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - DNAJC22 Gly186Val G186V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - DNASE1 Arg2Ser R2S not reviewed Insufficiently evaluated not reviewed unknown Array rs8176927 426 10758 0.0395984 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 3 - 9 - - DNASE1 Tyr117Ser Y117S not reviewed Insufficiently evaluated not reviewed unknown Array rs34923865 80 10756 0.00743771 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 3 - 1 - - DNMT1 Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array rs61750053 84 10756 0.00780959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - DNMT3B Arg382Cys R382C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 3 - 2 - - DNMT3B Arg374Cys R374C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - DNMT3B Arg362Cys R362C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - DOCK8 Arg1154Cys R1154C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - DOK1 Arg16His R16H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - DOK2 Lys408Glu K408E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - DOPEY1 Arg2266Trp R2266W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DPEP2 His468Asp H468D not reviewed Insufficiently evaluated not reviewed unknown Array rs1133090 833 10758 0.0774307 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.078 - - 3 - 1 - 5 - - DPH1 Arg314Gln R314Q not reviewed Insufficiently evaluated not reviewed unknown Array 129 10268 0.0125633 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - DPM1 Asp158Gly D158G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.967 Y Y 4 Y 4 N - - DPP3 Val347Gly V347G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 8 Y 2 N - - DPYSL2 Ala267Ser A267S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - -1 - 0 N - - DRD1 Ser259Tyr S259Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 5 Y 2 - 1 - - DSC1 Met659Thr M659T not reviewed Insufficiently evaluated not reviewed unknown Array rs28620831 390 10758 0.0362521 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - DSE Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array rs35548455 538 10758 0.0500093 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.953 - - 7 Y 2 - 9 - - DSG2 Val392Ile V392I not reviewed Insufficiently evaluated not reviewed unknown Array 14 9680 0.00144628 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y -4 - 2 N - - DSG2 Glu713Lys E713K not reviewed Insufficiently evaluated not reviewed unknown Array 582 10120 0.0575099 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.137 Y Y 0 - 3 - 7 - - DSG3 Val509Met V509M not reviewed Insufficiently evaluated not reviewed unknown Array rs16961975 196 10758 0.018219 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 2 - 4 - - DSP Leu1489Arg L1489R pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 10758 9.2954e-05 1 1 1 0 0 1 Y - - 0 Y - - 3 - - - Y - - - 0.889 Y Y 6 Y 4 N 1 0 Unreported, rare and predicted to be damaging. Some dominant variants in this gene are reported to cause Arrhythmogenic Right Ventricular Dysplasia -- this effect is contradicted by the presence of this variant in a healthy PGP participant, although penetrance is reported to be variable. Other recessive missense variants in this gene are reported to cause Skin Fragility-Woolly Hair Syndrome. DSPP Ser671Asn S671N not reviewed Insufficiently evaluated not reviewed unknown Array 75 8558 0.00876373 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Ser194Leu S194L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser520Leu S520L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser549Leu S549L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser560Leu S560L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DST Ser698Leu S698L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DTNBP1 Ala293Ser A293S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DTNBP1 Ala212Ser A212S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DTX3L Lys386Asn K386N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 1 - 2 N - - DUS3L Cys54Tyr C54Y not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 6 Y 2 N - - DUSP10 Glu281Gly E281G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.28 - - 6 Y 1 N - - DUSP16 Thr23Met T23M not reviewed Insufficiently evaluated not reviewed unknown Array rs36049447 70 10756 0.006508 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.5 - - 2 - 2 - 4 - - DUSP23 Gly131Ser G131S not reviewed Insufficiently evaluated not reviewed unknown Array rs1129923 709 10758 0.0659044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.1 - - 2 - 1 - 10 - - DUSP27 Met104Ile M104I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.018 - - -1 - 0 N - - DUSP6 Thr87Ile T87I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734372 286 10684 0.026769 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DYDC2 Gly143Ser G143S not reviewed Insufficiently evaluated not reviewed unknown Array rs1047951 261 10758 0.024261 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 1 - 1 - - DYNC1H1 Pro1205Gln P1205Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DYNLT1 Ser81Gly S81G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 2 N - - DYRK2 Ile563Arg I563R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - DYRK2 Ile490Arg I490R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - E2F1 Gly200Ser G200S not reviewed Insufficiently evaluated not reviewed unknown Array rs35385772 207 10756 0.0192451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - EAF1 Pro155Ser P155S not reviewed Insufficiently evaluated not reviewed unknown Array rs62242154 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.109 - - 3 - 1 - 1 - - EAPP Arg167His R167H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10112 0.000296677 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EARS2 Lys471Thr K471T not reviewed Insufficiently evaluated not reviewed unknown Array 78 9894 0.00788356 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ECE2 Val127Ala V127A not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.353 - - 2 - 1 N - - ECM2 Asn425His N425H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10750 0.00232558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ECM2 Pro155Leu P155L not reviewed Insufficiently evaluated not reviewed unknown Array rs968040 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ECT2 Ser15Thr S15T not reviewed Insufficiently evaluated not reviewed unknown Array rs34703432 133 10748 0.0123744 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - ECT2 Ile597Val I597V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EDEM2 Ile326Val I326V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - EDEM2 Ile289Val I289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EEA1 Cys1102Ser C1102S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - EEA1 Ala886Thr A886T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10738 0.00121065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EED Thr50Pro T50P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 8 - - EEF2K Ser477Asn S477N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - EFCAB3 Ser45Thr S45T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFCAB3 Ser97Thr S97T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFCAB6 Ala868Asp A868D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EFCAB6 Ala1020Asp A1020D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - EFCAB7 Ala542Pro A542P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - EFCAB7 Ile594Val I594V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EGFR Met318Val M318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EHBP1 Ser221Asn S221N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.819 - - 0 - 1 N - - EHBP1 Thr659Ser T659S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EHBP1 Thr694Ser T694S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - EHHADH Arg602Gln R602Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35200935 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF2AK3 Gly584Glu G584E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - EIF2C2 Gly35Trp G35W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - EIF2C4 Val419Leu V419L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF2S2 Leu328Ile L328I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - EIF2S2 Glu47Asp E47D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - EIF2S3 Lys125Arg K125R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230568 1002 8761 0.114371 7 0 13 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 - 2 - - EIF4G3 Pro496Ala P496A not reviewed Insufficiently evaluated not reviewed unknown Array rs35176330 265 10758 0.0246328 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 3 - 7 - - ELAVL2 Ser26Leu S26L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - ELAVL3 Ala120Gly A120G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ELL3 Trp140Arg W140R not reviewed Insufficiently evaluated not reviewed unknown Array rs35454865 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 3 - 2 - - ELOVL2 Leu62Val L62V not reviewed Insufficiently evaluated not reviewed unknown Array rs35925595 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMB Ser39Leu S39L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 5 - - EME1 Phe63Leu F63L not reviewed Insufficiently evaluated not reviewed unknown Array rs17714854 275 10758 0.0255624 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - EME1 Asn189Lys N189K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.742 - - 1 - 1 N - - EMP3 Ile125Val I125V not reviewed Insufficiently evaluated not reviewed unknown Array rs4893 306 10758 0.0284439 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.878 - - -4 - 3 - 6 - - EMR3 Gly633Asp G633D not reviewed Insufficiently evaluated not reviewed unknown Array rs117374816 90 10756 0.00836742 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.469 - - 4 Y 1 N - - ENAM Tyr322Asp Y322D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ENAM Pro724Leu P724L not reviewed Insufficiently evaluated not reviewed unknown Array rs3796703 128 10752 0.0119048 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 5 - - ENOX2 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ENPP3 Ser786Asn S786N not reviewed Insufficiently evaluated not reviewed unknown Array rs17601580 1257 10758 0.116843 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ENTPD1 Val293Ile V293I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 9 - - ENTPD1 Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 9 - - ENTPD3 Val230Met V230M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ENTPD4 Ser188Arg S188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - EP400 Lys1142Arg K1142R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EPAS1 Phe571Ser F571S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 5 Y 2 N - - EPB41L1 Pro473Arg P473R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EPB41L1 Pro547Arg P547R not reviewed Insufficiently evaluated not reviewed unknown Array rs6089016 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - EPB41L4A Arg587Leu R587L not reviewed Insufficiently evaluated not reviewed unknown Array rs17266567 134 10242 0.0130834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - EPB41L5 His334Tyr H334Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28930677 375 10758 0.0348578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - -1 - 1 - 3 - - EPB42 Val424Ala V424A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPB42 Val394Ala V394A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPC1 Ile636Thr I636T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPCAM Lys292Arg K292R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - EPHA2 Arg876His R876H not reviewed Insufficiently evaluated not reviewed unknown Array rs35903225 226 10758 0.0210076 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPHB2 Thr484Pro T484P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - EPS15 Gly296Asp G296D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - EPS15L1 Thr418Ala T418A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - EPS8 Asp761Glu D761E not reviewed Insufficiently evaluated not reviewed unknown Array rs7137185 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 1 - 3 - - EPS8 Pro626Thr P626T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.922 - - 4 Y 2 N - - EPS8 Phe444Leu F444L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - EPX Pro292Leu P292L not reviewed Insufficiently evaluated not reviewed unknown Array rs33971258 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.3 - - 7 Y 2 - 5 - - EPX Gly680Ser G680S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 1 N - - ERAL1 Gln243Stop Q243X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERBB2IP Met609Thr M609T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10754 0.00511438 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - ERBB3 Glu1008Asp E1008D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ERC1 Gln851Stop Q851X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERC1 Gln827Stop Q827X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERC1 Gln823Stop Q823X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERC1 Gln555Stop Q555X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERCC5 Met254Val M254V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 3 - 6 - - ERCC8 Lys286Thr K286T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.47 Y Y 3 - 3 N - - ERICH1 Arg149Gln R149Q not reviewed Insufficiently evaluated not reviewed unknown Array 217 10758 0.020171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.649 - - 0 - 1 N - - ERO1LB Leu266Pro L266P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.195 - - 7 Y 0 N - - ESCO1 Leu276Val L276V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ESCO2 Ala209Ser A209S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y -1 - 4 N - - ESCO2 Ile508Val I508V not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ESCO2 Pro579Thr P579T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 4 Y 4 N - - ESPNL Val221Ile V221I not reviewed Insufficiently evaluated not reviewed unknown Array 109 10658 0.0102271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - ESR2 Arg221Gly R221G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10720 0.00251866 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 3 - 2 - - ESRRG Cys81Stop C81X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ESRRG Cys104Stop C104X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ETF1 Ser295Ile S295I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.88 - - 5 Y 2 N - - ETV4 Arg437Cys R437C not reviewed Insufficiently evaluated not reviewed unknown Array rs34260468 92 10758 0.00855177 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 2 - - EVC Thr372Met T372M not reviewed Insufficiently evaluated not reviewed unknown Array rs28483498 704 10758 0.0654397 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 2 - 2 N - - EVI2B Cys253Phe C253F not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXOC8 Ala229Asp A229D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.919 - - 5 Y 2 N - - EXOSC3 Tyr225His Y225H not reviewed Insufficiently evaluated not reviewed unknown Array rs3208406 747 10758 0.0694367 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.923 - - -1 - 2 - 3 - - EXPH5 Cys1123Arg C1123R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - EXPH5 Cys1235Arg C1235R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - EXPH5 Cys1311Arg C1311R not reviewed Insufficiently evaluated not reviewed unknown Array rs877474 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 2 - - EXPH5 Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - EXPH5 Arg252Gln R252Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - EXPH5 Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11212684 315 10758 0.0292805 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - EXT2 Ser237Leu S237L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 6 Y 2 N - - EXT2 Ser250Leu S250L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 6 - - EYA4 Ser182Stop S182X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - EYA4 Ser159Stop S159X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - EYS Val112Ile V112I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - EZR Ala494Pro A494P not reviewed Insufficiently evaluated not reviewed unknown Array rs2230143 196 10758 0.018219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - F13B Arg645Ser R645S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10740 0.000837988 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.896 Y - 3 - 3 N - - F2RL2 Met177Val M177V not reviewed Insufficiently evaluated not reviewed unknown Array rs2069700 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.627 - - 0 - 2 - 4 - - F5 Gly903Arg G903R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - F9 Arg449Trp R449W not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 7 Y 2 N - - FABP9 Val2Ala V2A not reviewed Insufficiently evaluated not reviewed unknown Array rs61734383 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - FAM101A Val50Ile V50I not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM107B His95Gln H95Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM109B Arg97Cys R97C not reviewed Insufficiently evaluated not reviewed unknown Array rs61736039 304 10758 0.028258 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 3 - 1 - - FAM111B Gly684Asp G684D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - FAM111B Gly654Asp G654D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM118A Ser349Leu S349L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - FAM120B Ala421Ser A421S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM122C Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array rs45447592 361 8761 0.0412053 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - FAM126A Gln154Arg Q154R pathogenic High clinical importance, Uncertain pathogenic recessive Array 2 10758 0.000185908 1 0 1 0 0 1 Y - - 0 Y - - 4 Y 1 Y Y - - - 0.924 Y Y 0 - 4 N 2 0 Unreported, rare and predicted to be damaging by Polyphen 2. Other recessive variants in this gene, including one missense mutation, have been reported to cause hypomyelinating leukodystrophy and congenital cataracts. FAM129A Arg34His R34H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - FAM129B Arg155Cys R155C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM129B Arg168Cys R168C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM129C Arg622Gln R622Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM134B Gln238Glu Q238E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 3 - - FAM134B Gln379Glu Q379E not reviewed Insufficiently evaluated not reviewed unknown Array rs34432513 111 9992 0.0111089 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.154 - - -2 - 1 - 3 - - FAM13A Arg186His R186H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM149A Ile337Val I337V not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM161B Leu567Pro L567P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 7 Y 0 N - - FAM162A Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array 137 9952 0.0137661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM162B Ala120Thr A120T not reviewed Insufficiently evaluated not reviewed unknown Array 172 9786 0.0175761 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - FAM165B Lys51Arg K51R not reviewed Insufficiently evaluated not reviewed unknown Array rs34016792 266 10758 0.0247258 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FAM169A Glu511Lys E511K not reviewed Insufficiently evaluated not reviewed unknown Array 102 9750 0.0104615 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - FAM178A Lys145Arg K145R not reviewed Insufficiently evaluated not reviewed unknown Array rs35608448 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - FAM178A Arg388Cys R388C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FAM38B Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 1 - - FAM3B Val14Met V14M not reviewed Insufficiently evaluated not reviewed unknown Array rs2838012 892 10758 0.082915 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 6 - - FAM40B Val629Asp V629D not reviewed Insufficiently evaluated not reviewed unknown Array rs61746947 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - FAM46A Ser365Ile S365I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM46C Glu299Lys E299K not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.823 - - 0 - 1 N - - FAM47C Thr505Ser T505S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - FAM53A Ser270Gly S270G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.883 - - 2 - 2 N - - FAM53C Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - FAM54A Arg360Gln R360Q not reviewed Insufficiently evaluated not reviewed unknown Array 470 10756 0.0436965 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.814 - - 0 - 1 N - - FAM59A Val323Ile V323I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FAM71A Thr378Ile T378I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - FAM73A Phe430Ser F430S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - FAM83A Gly86Stop G86X not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM83D Asp607His D607H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9858 0.00020288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM98A Ser236Ala S236A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM98B Cys63Stop C63X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM9B His101Tyr H101Y not reviewed Insufficiently evaluated not reviewed unknown Array 76 8761 0.00867481 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.927 - - -1 - 2 N - - FANCI Leu605Phe L605F not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FANCI Ala1081Gly A1081G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FANCI Ala1021Gly A1021G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FANCM Leu526Val L526V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.792 Y Y 0 - 3 N - - FAP Phe185Leu F185L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10738 0.00456323 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAR2 Ile453Val I453V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - FARS2 Val345Gly V345G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - FASTKD2 Ser10Thr S10T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.75 Y - -2 - 2 N - - FAT2 Glu3698Asp E3698D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - FAT4 Ile2946Val I2946V not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - FAT4 Arg4022Trp R4022W not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FBN1 Arg930Gly R930G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FBN3 His2540Gln H2540Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35477781 409 10756 0.0380253 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - FBN3 Leu359Ile L359I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXL13 Cys231Ser C231S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - FBXO33 Ile514Thr I514T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - FBXO34 Ser82Gly S82G not reviewed Insufficiently evaluated not reviewed unknown Array rs35059794 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FBXO40 Ile115Ser I115S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - FBXO40 Glu539Asp E539D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXW10 Ala126Ser A126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - FBXW12 Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array 374 10758 0.0347648 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXW12 Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.072 - - 0 - 0 N - - FBXW7 Glu449Gly E449G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - 6 Y 1 N - - FBXW7 Glu369Gly E369G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 1 - 1 - - FBXW7 Glu331Gly E331G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCGR2B Phe85Ile F85I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.858 - - 2 - 2 N - - FCGR2B Phe84Ile F84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCRL2 His362Arg H362R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.965 - - 1 - 2 N - - FCRL3 Arg293Leu R293L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - FEM1B Glu205Asp E205D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.871 - - -2 - 2 N - - FEN1 Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 2 - 1 - - FGD2 Ser561Asn S561N not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - FGD4 Asp145Glu D145E not reviewed Insufficiently evaluated not reviewed unknown Array rs904582 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -2 - 2 N - - FGFR1 Pro681Ser P681S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FGFR1 Pro683Ser P683S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FGFR1 Pro735Ser P735S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FGFR1 Pro770Ser P770S not reviewed Insufficiently evaluated not reviewed unknown Array 138 10220 0.0135029 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FHDC1 Arg174Trp R174W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FHL2 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - FHOD3 Asn405Ser N405S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FIBCD1 Thr367Ala T367A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FIBP Glu312Asp E312D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - -2 - 1 N - - FIBP Glu305Asp E305D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLG Gly3846Ser G3846S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Glu3812Gln E3812Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLJ10357 Cys785Gly C785G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLJ21511 Ile603Val I603V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLJ41603 Met414Val M414V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLNB Gly925Cys G925C benign Low clinical importance, Uncertain benign unknown Array 7 10758 0.000650678 1 0 1 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.994 Y Y 7 Y 4 N 0 0 Rare, tentatively classified as benign. Polyphen 2 predicts a damaging effect and other variants in this gene are reported to cause serious diseases, but most of these are dominant and have phenotypes contradicted by the presence of this variant in a healthy PGP participant. Variants reported to cause recessive disease are more severe than this variant (nonsense instead of missense mutations). FLNB Gly1874Arg G1874R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 6 Y 4 N - - FLNC Glu2009Gly E2009G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y 6 Y 4 N - - FLNC Glu1976Gly E1976G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FMO4 Leu221His L221H not reviewed Insufficiently evaluated not reviewed unknown Array rs61747501 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.284 - - 6 Y 2 - 1 - - FMO4 Ile398Lys I398K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - FMO5 Lys166Glu K166E not reviewed Insufficiently evaluated not reviewed unknown Array rs58351438 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - FN3KRP Pro201Leu P201L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 1 - - FNDC3A Ser51Gly S51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - FNDC3A Ser107Gly S107G not reviewed Insufficiently evaluated not reviewed unknown Array rs34539036 239 10758 0.022216 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - FNDC3A Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNDC3A Ala478Thr A478T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 1 N - - FNDC3A Thr961Ala T961A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNDC3A Thr1017Ala T1017A not reviewed Insufficiently evaluated not reviewed unknown Array rs45604939 535 10756 0.0497397 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - FNDC3B Pro306Ser P306S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FNDC3B Cys701Trp C701W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FOXF1 Ser101Thr S101T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FOXJ3 Met595Thr M595T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - FOXO4 Met179Ile M179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - FOXP1 Asn570Ser N570S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - FPGT Pro210Ser P210S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRMD1 Glu100Asp E100D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FRMD1 Glu168Asp E168D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - FRMD1 Asn17Lys N17K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRMD1 Asn85Lys N85K not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 1 N - - FRMD7 Met78Val M78V not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 - Y 0 - 1 N - - FRY Thr24Pro T24P not reviewed Insufficiently evaluated not reviewed unknown Array 11 9634 0.00114179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 7 - - FRYL Ile586Val I586V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9626 0.000519426 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.85 - - -4 - 2 N - - FSCB Glu161Gly E161G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - FSCN3 Val467Ile V467I not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - FSTL1 Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FSTL4 Arg176Cys R176C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FTCD Gln17Lys Q17K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -2 - 1 N - - FTSJ3 Tyr456Cys Y456C not reviewed Insufficiently evaluated not reviewed unknown Array rs61747443 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - FUBP3 Gln527His Q527H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.917 - - -1 - 2 N - - FUCA2 Met442Thr M442T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FUT7 Val266Met V266M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730152 48 10748 0.00446595 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - FZD1 Phe385Ile F385I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.878 - - 2 - 2 N - - FZD4 Ala353Asp A353D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.759 Y Y 5 Y 3 N - - FZD6 Ala664Glu A664E not reviewed Insufficiently evaluated not reviewed unknown Array rs12549394 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - GAB3 Ser519Thr S519T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - GAB3 Ser520Thr S520T not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - GAB3 Asp220His D220H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - GAB3 Asp221His D221H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GAB4 Glu127Asp E127D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.118 - - -2 - 0 N - - GABPB1 Asn227Ser N227S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GABPB1 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - GABRE Val502Phe V502F not reviewed Insufficiently evaluated not reviewed unknown Array 124 8757 0.0141601 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.873 - - 3 - 3 - 2 - - GALNT10 Arg86His R86H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - GALNT7 Thr368Ile T368I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.083 - - 3 - 0 N - - GALNT8 Arg173Trp R173W not reviewed Insufficiently evaluated not reviewed unknown Array rs34806567 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GALNT8 Glu267Gly E267G not reviewed Insufficiently evaluated not reviewed unknown Array rs34776842 553 10758 0.0514036 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.049 - - 6 Y 1 - 6 - - GAR1 Phe76Ile F76I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.961 Y - 2 - 3 N - - GART Asp510Gly D510G not reviewed Insufficiently evaluated not reviewed unknown Array rs35927582 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 1 - 5 - - GAS2L3 Leu62Val L62V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 0 - 1 N - - GATM Gln225Arg Q225R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y 0 - 2 N - - GBP7 Gln264Arg Q264R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.615 - - 0 - 1 N - - GCAT Arg286Trp R286W not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GCC2 Cys960Tyr C960Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - GCC2 Cys1061Tyr C1061Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GCC2 Met997Val M997V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCC2 Met1098Val M1098V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCK Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 7 - - GCNT2 Thr102Ser T102S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GCNT3 Val392Ile V392I not reviewed Insufficiently evaluated not reviewed unknown Array rs34081917 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GDA Val264Met V264M not reviewed Insufficiently evaluated not reviewed unknown Array rs61752956 148 10732 0.0137905 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.295 - - 0 - 2 - 2 - - GDF9 Trp47Stop W47X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GFI1 Ser36Asn S36N not reviewed Insufficiently evaluated not reviewed unknown Array rs34631763 424 10758 0.0394125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - GFM2 Lys57Glu K57E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - GFM2 Asp55Gly D55G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.616 - - 4 Y 1 N - - GGA3 Glu219Gly E219G not reviewed Insufficiently evaluated not reviewed unknown Array rs52809447 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 6 Y 2 N - - GGA3 Glu186Gly E186G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GGNBP2 Leu691Val L691V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - GGT7 Asn394Ser N394S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.386 - - 0 - 1 N - - GH1 Val96Ile V96I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 2 - - GH1 Val136Ile V136I not reviewed Insufficiently evaluated not reviewed unknown Array rs5388 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - GH1 Val121Ile V121I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - GIGYF2 Gly178Arg G178R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.551 - - 6 Y 1 N - - GJA10 Gln493Stop Q493X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GJA8 Lys393Glu K393E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 1 Y - - - - - - 3 - 5 Y Y - - - 0.69 - - 0 - 1 N - - GJB4 Trp128Stop W128X not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 4 - 2 - - GJC1 Thr229Ile T229I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GJC3 Ala267Val A267V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - GK2 Asp440His D440H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GK2 Lys389Asn K389N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLI2 Gly305Val G305V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - GLIS1 Pro430Leu P430L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GLIS2 Ala75Ser A75S not reviewed Insufficiently evaluated not reviewed unknown Array rs72766563 193 10750 0.0179535 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - GLMN Asp91Asn D91N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.977 - - -1 - 2 N - - GLOD4 Ala281Glu A281E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLP2R Arg523His R523H not reviewed Insufficiently evaluated not reviewed unknown Array rs16958918 161 10758 0.0149656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 1 - 4 - - GLT8D2 Met273Val M273V not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - GLUL Gly251Ala G251A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.454 - - 1 - 1 N - - GLYATL1 Arg47Gly R47G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GMPR2 Leu265Ile L265I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GMPR2 Leu283Ile L283I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GNAL Thr389Ala T389A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GNAL Thr312Ala T312A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GNB2L1 Val312Gly V312G not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - GNPTAB Tyr477Asp Y477D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.813 Y Y 7 Y 3 N - - GNPTAB Ile167Asn I167N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.125 Y Y 7 Y 2 N - - GOLGA2 Glu827Gly E827G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - GOLGA3 Asp1238Asn D1238N not reviewed Insufficiently evaluated not reviewed unknown Array 312 10758 0.0290017 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - GOLGA3 Pro79Gln P79Q not reviewed Insufficiently evaluated not reviewed unknown Array 370 10758 0.034393 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - GOLGA4 Glu677Gln E677Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - GOLGB1 Thr642Ala T642A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - GORASP1 Pro305Ser P305S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - GP6 Met517Arg M517R not reviewed Insufficiently evaluated not reviewed unknown Array 25 9918 0.00252067 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPA33 Val119Phe V119F not reviewed Insufficiently evaluated not reviewed unknown Array rs72689400 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - GPATCH1 Ser251Leu S251L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.636 - - 6 Y 1 N - - GPATCH2 Met474Val M474V not reviewed Insufficiently evaluated not reviewed unknown Array rs35737297 299 10758 0.0277933 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - GPC2 Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - GPC5 Ser355Asn S355N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.374 - - 0 - 1 N - - GPIHBP1 Val138Ala V138A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - GPNMB Ala354Thr A354T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - GPNMB Ala342Thr A342T not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR112 Tyr184His Y184H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR112 Glu1650Asp E1650D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPR115 Val411Ile V411I not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPR125 Lys852Asn K852N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - GPR142 Val312Phe V312F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - 3 - 1 N - - GPR146 Val35Ala V35A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10732 0.000838613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - GPR156 Arg798His R798H not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - GPR156 Arg219Trp R219W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.76 - - 7 Y 1 N - - GPR171 Asp156Glu D156E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.302 - - -2 - 1 N - - GPR176 Leu369Ile L369I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - GPR179 Arg493His R493H not reviewed Insufficiently evaluated not reviewed unknown Array rs4550493 397 10060 0.0394632 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - GPR179 Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 51 9838 0.00518398 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - GPR180 Asp309Gly D309G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.41 - - 4 Y 1 N - - GPR183 His284Tyr H284Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62637588 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - -1 - 1 N - - GPR19 Ile266Val I266V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - -4 - 0 N - - GPR32 Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.234 - - 3 - 1 N - - GPR37 Ser294Arg S294R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - GPR39 Ala378Thr A378T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735719 92 10756 0.00855337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - GPR44 His72Asn H72N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10690 0.000748362 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.928 - - 0 - 2 N - - GPR56 Arg564Trp R564W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GPR56 Arg559Trp R559W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GPR64 His268Gln H268Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - GPR64 His276Gln H276Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - GPR64 His287Gln H287Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - GPR64 His290Gln H290Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35974297 174 8761 0.0198607 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 1 - 3 - - GPR65 Ala277Gly A277G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - GPR83 Lys368Thr K368T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPRC5B Val182Gly V182G not reviewed Insufficiently evaluated not reviewed unknown Array 1564 10758 0.14538 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - 8 Y 1 N - - GPSM2 Glu629Asp E629D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPSM2 Asp630His D630H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPX5 Tyr92Cys Y92C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRB10 Gly32Val G32V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GREB1 Arg1164Cys R1164C not reviewed Insufficiently evaluated not reviewed unknown Array 151 9852 0.0153268 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GREB1 Gln1709Arg Q1709R not reviewed Insufficiently evaluated not reviewed unknown Array 158 10468 0.0150936 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRID1 Ser49Ile S49I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.412 - - 5 Y 1 N - - GRID2 Gly410Asp G410D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GRIN1 Asn203Ser N203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.173 - - 0 - 0 N - - GRK7 Arg461His R461H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GRM7 Gly550Arg G550R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 6 Y 1 N - - GRXCR1 Met258Ile M258I not reviewed Insufficiently evaluated not reviewed unknown Array 4 9946 0.000402171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - GSG1 Glu115Gly E115G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSG1 Glu102Gly E102G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.905 - - 6 Y 2 N - - GSK3A Val104Leu V104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - GSN Lys10Arg K10R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 3 - 6 - - GSN Lys21Arg K21R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 3 - 6 - - GSN Lys61Arg K61R not reviewed Insufficiently evaluated not reviewed unknown Array 288 10758 0.0267708 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -3 - 2 - 1 - - GTF2E1 Arg432Cys R432C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - GTF3C4 Ile565Met I565M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10754 0.00474242 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTSF1L Phe22Tyr F22Y not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -4 - 2 N - - GUCY2C Val964Ala V964A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - GYLTL1B Arg560Cys R560C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - HARBI1 Gln198Arg Q198R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - HAS3 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array rs2232229 199 10758 0.0184979 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - HAUS1 Ser83Pro S83P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - HAUS1 Ala102Val A102V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - 2 - 1 N - - HAUS4 Val71Asp V71D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.978 - - 8 Y 2 N - - HAUS6 Thr923Ala T923A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - HAVCR1 Thr194Met T194M not reviewed Insufficiently evaluated not reviewed unknown Array 152 10390 0.0146295 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HBEGF Lys2Stop K2X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HBP1 Leu195Pro L195P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.636 - - 7 Y 1 N - - HCFC2 Gly268Ala G268A not reviewed Insufficiently evaluated not reviewed unknown Array rs17035206 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 1 - 3 - - HCN1 Val158Ile V158I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - HCN3 Pro630Leu P630L not reviewed Insufficiently evaluated not reviewed unknown Array rs35001694 241 10758 0.0224019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 1 - 3 - - HCRTR1 Leu265Met L265M not reviewed Insufficiently evaluated not reviewed unknown Array rs41501244 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - HDAC5 Ser972Thr S972T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HDAC5 Ser971Thr S971T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HEATR1 Ser884Asn S884N not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - HEATR2 Leu276Arg L276R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 2 N - - HEATR3 Ile205Val I205V not reviewed Insufficiently evaluated not reviewed unknown Array rs34927843 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 1 - 1 - - HEBP2 Asp143Asn D143N not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.122 - - -1 - 0 N - - HECTD1 Leu1917Met L1917M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HELZ Ile257Leu I257L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HERC2 His4640Arg H4640R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - HERC2 Gln1697Glu Q1697E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - HERPUD1 Ser143Leu S143L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.673 - - 6 Y 1 N - - HERPUD1 Ser142Leu S142L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HERPUD1 Ser118Leu S118L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HEXA Ala255Pro A255P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - HEXB Thr150Asn T150N not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 1 - 1 N - - HEY2 Thr322Lys T322K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - HHAT Glu399Lys E399K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - HHIPL2 Val598Leu V598L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 2 N - - HHLA3 Arg58Ser R58S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HHLA3 Gly92Ala G92A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - HHLA3 Gly60Arg G60R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10684 0.000187195 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIBCH Cys163Ser C163S not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HIPK1 Phe195Ile F195I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - HIRIP3 Ala496Val A496V not reviewed Insufficiently evaluated not reviewed unknown Array rs35431046 211 10758 0.0196133 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 1 - 2 - - HIRIP3 Lys80Arg K80R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - -3 - 1 N - - HISPPD1 Ser419Ala S419A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HIST1H1D Ile11Thr I11T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIVEP2 Tyr1242Cys Y1242C not reviewed Insufficiently evaluated not reviewed unknown Array 194 10044 0.019315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - HJURP Ser548Thr S548T not reviewed Insufficiently evaluated not reviewed unknown Array rs17863822 523 10758 0.048615 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.121 - - -2 - 0 N - - HK1 Ala251Ser A251S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK1 Ala262Ser A262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK1 Ala263Ser A263S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK1 Ala267Ser A267S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HK3 Ala690Gly A690G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - HK3 Gln578Arg Q578R not reviewed Insufficiently evaluated not reviewed unknown Array rs61749651 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - HKR1 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - HLA-DQA2 Glu198Lys E198K not reviewed Insufficiently evaluated not reviewed unknown Array 275 7524 0.0365497 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HLCS Val641Met V641M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.305 Y - 0 - 2 N - - HMCN1 Cys5516Arg C5516R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - HMGCR Ile585Val I585V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - HMGCR Ile638Val I638V not reviewed Insufficiently evaluated not reviewed unknown Array rs5908 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - HMGN4 Asp88Asn D88N not reviewed Insufficiently evaluated not reviewed unknown Array rs34511704 58 10730 0.00540541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - HN1 Glu154Asp E154D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HNRNPH1 Ala344Gly A344G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 1 - 2 N - - HNRNPR Tyr485Asp Y485D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HNRNPR Tyr482Asp Y482D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HNRNPR Tyr384Asp Y384D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HNRNPR Tyr381Asp Y381D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HNRNPUL1 Cys331Trp C331W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HNRNPUL1 Cys231Trp C231W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HOXA13 Val366Gly V366G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 8 Y 4 N - - HOXB9 Arg183His R183H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - HPN Ser362Arg S362R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HPX Val439Leu V439L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - HPX Ala7Thr A7T not reviewed Insufficiently evaluated not reviewed unknown Array rs35899065 172 10758 0.0159881 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 9 - - HRG Val200Leu V200L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - HRG Pro318Ser P318S not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - HRNR Ser485Thr S485T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HRSP12 Ser102Asn S102N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - HS1BP3 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HS3ST5 Lys225Gln K225Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - HSD17B12 Pro195Arg P195R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - HSD3B2 Thr104Pro T104P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.978 Y - 4 Y 3 N - - HSDL2 Ala44Pro A44P not reviewed Insufficiently evaluated not reviewed unknown Array 67 9950 0.00673367 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - HSF5 Pro531Leu P531L not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - HSP90B1 Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - HSP90B1 Glu574Gln E574Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - HSPA14 Thr104Asn T104N not reviewed Insufficiently evaluated not reviewed unknown Array rs45567440 68 10724 0.00634092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - HSPA4 Asn750Asp N750D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSPA4L Ile601Thr I601T not reviewed Insufficiently evaluated not reviewed unknown Array rs35518193 416 10758 0.0386689 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 4 - - HSPA4L Ser746Asn S746N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSPA8 Tyr115Asp Y115D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - 7 Y 1 N - - HTATIP2 Met256Ile M256I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HTATIP2 Met222Ile M222I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HTATSF1 His401Arg H401R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - HTR2B Met421Val M421V not reviewed Insufficiently evaluated not reviewed unknown Array rs6736017 315 10758 0.0292805 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - HTR2B Trp31Arg W31R not reviewed Insufficiently evaluated not reviewed unknown Array rs61731727 216 10758 0.0200781 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HTRA4 Asn288Ile N288I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - HYAL1 Gly256Arg G256R not reviewed Insufficiently evaluated not reviewed unknown Array rs116482870 523 10758 0.048615 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.047 Y - 6 Y 1 N - - HYAL1 Gly74Arg G74R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HYDIN Asp2157His D2157H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - IARS2 Ala190Pro A190P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.032 - - 2 - 0 N - - ICAM2 His157Arg H157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - ICOS Val151Leu V151L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - ICT1 Glu171Asp E171D not reviewed Insufficiently evaluated not reviewed unknown Array 24 10754 0.00223173 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - -2 - 1 N - - ID1 Asn63Asp N63D not reviewed Insufficiently evaluated not reviewed unknown Array rs1802548 190 10656 0.0178303 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - -1 - 2 - 4 - - IDE Gly342Asp G342D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IDE Val256Gly V256G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - IDI1 Cys13Tyr C13Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7091756 295 9388 0.0314231 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - IDI2 Gln15Stop Q15X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IFI44L Met40Thr M40T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - IFIH1 Thr725Lys T725K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - IFIT2 Glu228Asp E228D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.565 - - -2 - 1 N - - IFIT2 Asn300Asp N300D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - IFITM3 His3Gln H3Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1136853 406 9884 0.0410765 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.804 - - -1 - 2 - 2 - - IFNA5 Cys122Ser C122S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - IFT140 Arg773Trp R773W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IFT57 Ile159Val I159V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - IGFBP7 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - IGFBP7 Thr188Pro T188P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - IGSF1 Gln724Stop Q724X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IGSF10 Lys2172Arg K2172R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -3 - 2 N - - IGSF10 Thr1440Pro T1440P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.648 - - 4 Y 1 N - - IGSF10 Glu1439Asp E1439D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - -2 - 0 N - - IGSF10 Ala16Val A16V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - IGSF2 Ser941Pro S941P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGSF22 Asp214Asn D214N not reviewed Insufficiently evaluated not reviewed unknown Array 22 9682 0.00227226 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.31 - - -1 - 1 N - - IL10RB Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL12A Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array rs35990253 85 10756 0.00790257 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL12A Pro220Leu P220L not reviewed Insufficiently evaluated not reviewed unknown Array rs55691228 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL13RA1 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - IL16 Phe725Leu F725L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL16 Phe24Leu F24L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17B Asn65Ile N65I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 7 Y 1 N - - IL17F Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array rs11465553 330 10758 0.0306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.564 - - -4 - 2 - 6 - - IL1F6 Asn148Ile N148I not reviewed Insufficiently evaluated not reviewed unknown Array rs34817588 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.605 - - 7 Y 1 N - - IL1R1 Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 Y - 1 - 3 N - - IL1RL1 Thr509Ile T509I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.782 - - 3 - 1 N - - IL1RL2 Ile237Thr I237T not reviewed Insufficiently evaluated not reviewed unknown Array rs13405631 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 3 - 3 - - IL22RA2 Leu16Pro L16P not reviewed Insufficiently evaluated not reviewed unknown Array rs28385692 259 10758 0.0240751 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.047 - - 7 Y 1 - 2 - - IL23A Gln123Lys Q123K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.909 - - -2 - 2 N - - IL7R Thr125Ala T125A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - IL7R Ser453Pro S453P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ILKAP Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - IMPG2 Asn918Asp N918D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - INADL Ala1616Gly A1616G not reviewed Insufficiently evaluated not reviewed unknown Array rs41289430 173 9850 0.0175635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - INCENP Ala912Thr A912T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INCENP Ala908Thr A908T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INHA Ala257Thr A257T not reviewed Insufficiently evaluated not reviewed unknown Array rs12720062 194 10758 0.0180331 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.109 - - 1 - 1 - 10 - - INHBA Asn336Asp N336D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - -1 - 0 N - - INMT Arg137Trp R137W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - INPP5F Met234Ile M234I not reviewed Insufficiently evaluated not reviewed unknown Array rs34239637 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - INPPL1 Asn252Thr N252T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INSC Asp282Asn D282N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INSC Asp329Asn D329N not reviewed Insufficiently evaluated not reviewed unknown Array rs61745838 344 10514 0.0327183 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - INTS5 Leu313Ile L313I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - INTU Cys711Arg C711R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - INVS Leu844Ile L844I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - IP6K2 Val343Ala V343A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 2 - 1 N - - IPO5 Ser596Pro S596P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IPO8 Ile640Val I640V not reviewed Insufficiently evaluated not reviewed unknown Array rs34119940 193 10666 0.0180949 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - -4 - 1 - 2 - - IQCC Ala306Thr A306T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQCC Ala226Thr A226T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - IQCE His627Asn H627N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQCE His643Asn H643N not reviewed Insufficiently evaluated not reviewed unknown Array 4 9838 0.000406586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - IQGAP1 Asn903Lys N903K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - IQGAP2 Trp433Arg W433R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IQGAP2 Glu883Gln E883Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34968964 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IQGAP2 Asn1184Ser N1184S not reviewed Insufficiently evaluated not reviewed unknown Array rs10454915 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - IQGAP2 Val1533Ala V1533A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQGAP3 Ala1221Pro A1221P not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQGAP3 Lys1021Arg K1021R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IQWD1 Glu552Gly E552G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQWD1 Glu572Gly E572G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRAK1BP1 Pro40Arg P40R not reviewed Insufficiently evaluated not reviewed unknown Array rs41269339 305 10758 0.028351 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 1 - 1 - - IRAK2 Leu329Val L329V not reviewed Insufficiently evaluated not reviewed unknown Array rs11465910 129 10758 0.0119911 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.702 - - 0 - 2 - 3 - - IRF2BP1 Arg294Pro R294P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 5 Y 2 N - - ISG20 Ser103Ile S103I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 5 Y 0 N - - ISLR2 Gln742Lys Q742K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.922 - - -2 - 2 N - - ITGA1 Ala593Asp A593D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.784 - - 5 Y 1 N - - ITGA1 Lys1124Arg K1124R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - ITGAL Glu505Lys E505K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGAL Glu422Lys E422K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGAV Val974Gly V974G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGAV Val964Gly V964G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGAV Val1010Gly V1010G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGB5 Arg751Gln R751Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ITGBL1 Pro257Leu P257L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 7 Y 0 N - - ITIH2 Gln328Arg Q328R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH2 Lys571Glu K571E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPK1 Asn231Thr N231T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - ITPR2 Ala453Val A453V not reviewed Insufficiently evaluated not reviewed unknown Array rs41453348 308 9580 0.0321503 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 1 - 2 - - ITPR3 Asn395Ser N395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JAG1 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.69 Y Y -4 - 3 N - - JAM2 His7Gln H7Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8132639 131 9956 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 10 - - JMJD1C Met372Val M372V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD1C Met591Val M591V not reviewed Insufficiently evaluated not reviewed unknown Array rs41274072 542 9728 0.0557155 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - JMJD4 Leu256Pro L256P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.856 - - 7 Y 2 N - - JTB Ile83Ser I83S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 3 - 4 - - KALRN Ser1089Thr S1089T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KALRN Asn1341Ser N1341S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KANK1 Thr764Ile T764I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KANK1 Thr922Ile T922I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KANK4 Thr860Pro T860P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - KAT2B Arg653Trp R653W not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.864 - - 7 Y 2 N - - KAZALD1 Asn277Ser N277S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.069 - - 0 - 0 N - - KBTBD3 Val209Asp V209D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCNA4 Pro357Thr P357T not reviewed Insufficiently evaluated not reviewed unknown Array rs12276475 101 10132 0.00996842 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 1 - 2 - - KCND3 Leu163Ile L163I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - KCNG1 Ala230Pro A230P not reviewed Insufficiently evaluated not reviewed unknown Array 13 10752 0.00120908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - KCNG4 Arg427His R427H not reviewed Insufficiently evaluated not reviewed unknown Array rs35649980 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - KCNG4 Glu321Lys E321K not reviewed Insufficiently evaluated not reviewed unknown Array rs4782905 7 126 0.0555556 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 1 - 4 - - KCNH1 Gly799Val G799V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCNH1 Gly826Val G826V not reviewed Insufficiently evaluated not reviewed unknown Array 257 10758 0.0238892 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCNH2 Val193Gly V193G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - KCNH2 Val533Gly V533G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10752 0.00223214 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 8 Y 4 N - - KCNH6 Gln217Leu Q217L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - KCNJ10 Asn378Ser N378S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - KCNJ10 Arg271Cys R271C not reviewed Insufficiently evaluated not reviewed unknown Array rs1130183 498 10758 0.0462911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 8 Y 3 - 9 - - KCNJ16 Glu53Gly E53G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 6 Y 2 N - - KCNJ8 Val334Ala V334A not reviewed Insufficiently evaluated not reviewed unknown Array rs34811413 184 10758 0.0171035 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 1 - 2 - - KCNK1 Tyr231Cys Y231C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KCNK15 Leu48Pro L48P not reviewed Insufficiently evaluated not reviewed unknown Array 129 10668 0.0120922 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.76 - - 7 Y 2 - 1 - - KCNK17 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2758910 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 1 - 6 - - KCNK17 Met253Leu M253L not reviewed Insufficiently evaluated not reviewed unknown Array rs35677794 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -3 - 1 - 4 - - KCNK2 Asn408Ser N408S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - KCNK2 Asn404Ser N404S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNK2 Asn393Ser N393S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNQ3 Arg777Gln R777Q benign Low clinical importance, Uncertain benign unknown Array 1 10758 9.2954e-05 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.997 Y - 0 - 3 N 0 0 Tentatively evaluated as benign. Other missense mutations have been reported to cause benign familial neonatal seizures in a dominant manner, this was observed in a PGP participant with no reported family history of this phenotype. KCNV2 Met285Arg M285R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10732 0.00577712 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - KCTD8 Arg459Cys R459C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - KCTD9 Met315Lys M315K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - KDR Phe945Ser F945S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - KIAA0020 Leu126Pro L126P not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 7 Y 0 N - - KIAA0100 Pro1514Ser P1514S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743603 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - KIAA0100 His137Gln H137Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - KIAA0146 Glu318Asp E318D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - KIAA0182 Glu978Lys E978K not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KIAA0182 Glu874Lys E874K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0226 Val607Phe V607F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0226 Val652Phe V652F not reviewed Insufficiently evaluated not reviewed unknown Array 434 9978 0.0434957 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 2 N - - KIAA0240 Leu986Ser L986S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - KIAA0391 Ala254Asp A254D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0408 Glu31Gly E31G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - KIAA0467 Val1622Ala V1622A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.593 - - 2 - 1 N - - KIAA0564 Trp1494Leu W1494L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0753 Val501Met V501M not reviewed Insufficiently evaluated not reviewed unknown Array rs11868877 183 9700 0.018866 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - KIAA0753 Phe423Leu F423L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - KIAA1024 Ser725Arg S725R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 3 - 2 N - - KIAA1128 Met334Val M334V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1199 Trp1303Arg W1303R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIAA1211 Arg247Gly R247G not reviewed Insufficiently evaluated not reviewed unknown Array 121 10156 0.0119141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1219 His1191Tyr H1191Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1377 Ile171Val I171V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 1 N - - KIAA1377 His308Leu H308L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742172 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KIAA1407 His84Asn H84N not reviewed Insufficiently evaluated not reviewed unknown Array 74 10756 0.00687988 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIAA1409 Asp1693Asn D1693N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1524 Ala362Thr A362T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 1 - 0 N - - KIAA1529 Ser995Phe S995F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 10 - - KIAA1609 Glu233Asp E233D not reviewed Insufficiently evaluated not reviewed unknown Array rs34244563 110 10758 0.0102249 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.266 - - -2 - 2 - 3 - - KIAA1618 Ile568Ser I568S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1618 Thr994Ile T994I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1632 Ser1864Asn S1864N not reviewed Insufficiently evaluated not reviewed unknown Array rs34064739 472 9672 0.0488007 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - KIAA1632 Leu723Ile L723I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - KIAA1632 Ala283Asp A283D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - KIAA1712 Phe164Val F164V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - KIAA1715 Ile248Val I248V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIAA1715 Thr159Ser T159S not reviewed Insufficiently evaluated not reviewed unknown Array rs34897061 473 10758 0.0439673 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.426 - - -2 - 2 - 1 - - KIAA1755 Arg255Gln R255Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41282824 463 10758 0.0430377 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 1 N - - KIAA2018 Ile2125Ser I2125S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - KIAA2018 Phe331Leu F331L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF11 Gly677Asp G677D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - KIF11 Val1009Gly V1009G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - KIF12 Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIF14 Val354Ile V354I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - -4 - 1 N - - KIF15 Ser182Leu S182L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KIF15 Glu837Lys E837K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF16B Thr701Ile T701I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF1C Ser295Leu S295L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.721 - - 6 Y 1 N - - KIF20B Ile97Val I97V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIF20B Lys1692Arg K1692R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIF6 Met522Leu M522L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - KIF7 Glu629Lys E629K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIFC1 Arg210Ser R210S not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLF10 Thr178Ser T178S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLF10 Thr189Ser T189S not reviewed Insufficiently evaluated not reviewed unknown Array rs28566564 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLF10 Arg175Ile R175I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KLF10 Arg186Ile R186I not reviewed Insufficiently evaluated not reviewed unknown Array rs28634259 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - KLHL25 Asn186Thr N186T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLK11 Glu73Lys E73K not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 1 - 2 - - KLK11 Glu41Lys E41K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KNG1 Arg412Stop R412X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KPNB1 Pro70Ala P70A not reviewed Insufficiently evaluated not reviewed unknown Array rs61750353 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KRT2 Ala513Gly A513G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - KRT24 Gly250Asp G250D not reviewed Insufficiently evaluated not reviewed unknown Array rs7211480 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 3 - 2 - - KRT32 Gly28Ser G28S not reviewed Insufficiently evaluated not reviewed unknown Array 187 10756 0.0173856 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT33A Thr200Pro T200P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT6B Tyr497Cys Y497C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746354 442 10758 0.0410857 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - KRT71 Ile355Phe I355F not reviewed Insufficiently evaluated not reviewed unknown Array rs35988863 127 10758 0.0118052 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 3 - 3 - - KRT71 Glu178Asp E178D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - KRT74 Ala487Thr A487T not reviewed Insufficiently evaluated not reviewed unknown Array rs75004274 397 10758 0.0369028 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT75 Glu240Lys E240K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - KRT78 Ile281Ser I281S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 5 Y 2 N - - KRT85 Val438Ala V438A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 2 - 1 N - - KRT85 Asn282Thr N282T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - KRT86 Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.905 Y - 0 - 3 N - - KRTAP13-4 Arg13His R13H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - KRTAP13-4 Asn107Ser N107S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP26-1 Pro188Thr P188T not reviewed Insufficiently evaluated not reviewed unknown Array rs12483584 155 10758 0.0144079 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 3 - 3 - - KRTAP26-1 Cys3Tyr C3Y not reviewed Insufficiently evaluated not reviewed unknown Array 77 10740 0.00716946 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KRTAP27-1 Cys95Tyr C95Y not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KTN1 Glu620Ala E620A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10752 0.000930059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - L1CAM Val797Ile V797I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - L1CAM Val802Ile V802I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - L3MBTL2 Ala254Pro A254P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - L3MBTL2 Cys273Gly C273G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LACE1 Leu14Val L14V not reviewed Insufficiently evaluated not reviewed unknown Array rs34455016 158 10748 0.0147004 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - LACE1 Phe455Leu F455L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - LAD1 Pro63Leu P63L not reviewed Insufficiently evaluated not reviewed unknown Array rs41302137 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LAMA1 Leu2144Val L2144V not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - LAMA1 Ala2119Thr A2119T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - LAMA1 Asp1682Val D1682V not reviewed Insufficiently evaluated not reviewed unknown Array rs16950981 240 10758 0.022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.656 - - 8 Y 2 - 5 - - LAMA1 Arg225His R225H not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LAMA2 Gly1584Ser G1584S not reviewed Insufficiently evaluated not reviewed unknown Array 251 10758 0.0233315 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LAMA2 Arg2786Cys R2786C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - LAMA2 Arg2782Cys R2782C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - LAMA2 Val3117Gly V3117G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - LAMA2 Val3113Gly V3113G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - LAMA3 Ser523Ala S523A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LAMA3 Ser467Ala S467A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LAMA3 Ser2132Ala S2132A not reviewed Insufficiently evaluated not reviewed unknown Array rs34590975 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LAMA3 Ser2076Ala S2076A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LAMB4 Ala1201Gly A1201G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - LAMC1 Phe323Ser F323S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 5 Y 2 N - - LARP1 Asn927Ser N927S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LARP1 Asn1004Ser N1004S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - LARP4 Phe357Leu F357L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - LARP4 Phe351Leu F351L not reviewed Insufficiently evaluated not reviewed unknown Array rs17124706 367 9458 0.0388031 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 3 - 4 - - LARP4 Phe280Leu F280L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - LARS2 Glu60Asp E60D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -2 - 2 N - - LATS1 Pro555Ser P555S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - LBP Leu339Phe L339F not reviewed Insufficiently evaluated not reviewed unknown Array rs5744212 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 1 - 8 - - LCAT Val405Ile V405I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.064 Y - -4 - 2 - 1 - - LCMT2 Phe376Ser F376S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.704 - - 5 Y 1 N - - LCP1 Ala40Val A40V not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - LECT2 Gly63Glu G63E not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - LENG9 Gly490Glu G490E not reviewed Insufficiently evaluated not reviewed unknown Array 280 10758 0.0260271 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - LEPREL1 Gln4His Q4H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LEPREL1 Gln185His Q185H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.918 - - -1 - 2 N - - LGALS12 Val253Ala V253A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS12 Val252Ala V252A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - LGALS12 Val243Ala V243A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS12 Val191Ala V191A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS12 Val182Ala V182A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS9 His220Pro H220P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - LGALS9 His188Pro H188P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LGR4 Arg684Gly R684G not reviewed Insufficiently evaluated not reviewed unknown Array rs7125959 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 3 - - LIG4 Ile167Arg I167R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 7 Y 0 N - - LILRA1 Lys124Glu K124E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 0 - 0 N - - LILRA1 Ala337Thr A337T not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA6 Tyr400Cys Y400C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB2 Thr141Ile T141I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - LIMD2 Val54Gly V54G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - LIPE Thr405Pro T405P not reviewed Insufficiently evaluated not reviewed unknown Array 415 10758 0.0385759 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 4 Y 1 N - - LIPE Pro190Thr P190T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.243 - - 4 Y 1 N - - LLGL2 Val259Met V259M not reviewed Insufficiently evaluated not reviewed unknown Array 245 10754 0.0227822 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - LMBR1 Leu203Ser L203S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - LMO7 Glu547Gly E547G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - LMO7 Glu498Gly E498G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LNPEP Ile166Met I166M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LNPEP Ile152Met I152M not reviewed Insufficiently evaluated not reviewed unknown Array rs61752351 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC553158 Tyr263Cys Y263C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOH12CR1 Asp191Tyr D191Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3751262 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.585 - - 7 Y 2 - 1 - - LPCAT2 Val89Ile V89I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744474 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LPCAT3 Phe63Leu F63L not reviewed Insufficiently evaluated not reviewed unknown Array rs34196984 228 10758 0.0211935 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 1 - 3 - - LPCAT4 Ala510Asp A510D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - LPHN2 His1071Arg H1071R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LPIN2 Pro623Ser P623S not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - LPIN2 Leu504Phe L504F benign Low clinical importance, Uncertain benign unknown Array 34 10750 0.00316279 1 0 1 0 0 0 Y - - 0 Y 0 Y - - - - Y - - - 0.358 Y Y 0 - 4 - 2 0 0 Unreported and rare, tentatively evaluated as benign. Other recessive mutations in this gene cause Majeed syndrome (multifocal osteomyelitis, anemia, and dermatosis). Although unstudied, LPIN2 is in a locus associated with psoriasis. LPL Asn318Ser N318S pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array rs268 145 10758 0.0134783 2 0 2 1 1 ! Y - - 4 Y - - 3 Y 4 Y Y - - - 0.005 Y Y 0 - 3 - 7 1 0 Also called N291S, this variant has been associated with high hypertriglyceridemia. According to data from Wright et al., carriers of this variant may be two to three times more likely to have very high triglyceride levels, although it is unknown what effect this may have on coronary heart disease. LRBA Leu2153Pro L2153P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRBA Gly1230Asp G1230D not reviewed Insufficiently evaluated not reviewed unknown Array rs34708681 104 10758 0.00966722 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - LRDD Ser48Phe S48F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRDD Ser194Phe S194F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - LRG1 Glu197Lys E197K not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - LRGUK Arg528His R528H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753513 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LRIG1 Glu96Lys E96K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - LRIG2 Met670Leu M670L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -3 - 2 N - - LRIG3 Ile401Val I401V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - LRIG3 Ile341Val I341V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRIT3 Ile496Val I496V not reviewed Insufficiently evaluated not reviewed unknown Array rs35997283 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.708 - - -4 - 1 N - - LRIT3 Tyr581Stop Y581X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRP1B Arg1890Lys R1890K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - LRP2 Arg3646His R3646H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 - Y 1 - 1 N - - LRP4 Met1786Lys M1786K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748876 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRP8 Asn95Thr N95T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRPPRC His379Tyr H379Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -1 - 3 N - - LRRC16B Ser21Arg S21R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 1 N - - LRRC16B Arg1000His R1000H not reviewed Insufficiently evaluated not reviewed unknown Array 348 10756 0.032354 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC18 Ile163Leu I163L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - -2 - 0 N - - LRRC2 Asn82Ile N82I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 1 N - - LRRC25 Ser20Asn S20N not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - LRRC32 Leu145Val L145V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 Y - 0 - 1 N - - LRRC34 Asp376Asn D376N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - LRRC36 Ser744Gly S744G not reviewed Insufficiently evaluated not reviewed unknown Array rs16957415 952 10758 0.0884923 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 1 - 2 - - LRRC36 Ser623Gly S623G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - LRRC37A3 Pro1378Leu P1378L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - LRRC50 Leu660Pro L660P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC8C Lys304Asn K304N not reviewed Insufficiently evaluated not reviewed unknown Array rs72712583 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRFIP2 Leu397Pro L397P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRFIP2 Leu421Pro L421P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRFIP2 Leu718Pro L718P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - LRRK2 Ile723Val I723V not reviewed Insufficiently evaluated not reviewed unknown Array rs10878307 540 10758 0.0501952 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - LRRK2 Asp957Gly D957G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - LRRK2 Thr1410Met T1410M not reviewed Insufficiently evaluated not reviewed unknown Array rs72546327 87 10758 0.008087 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 4 - 7 - - LRRK2 Asn2081Asp N2081D benign Low clinical importance, Uncertain benign unknown Array rs33995883 146 10756 0.0135738 1 0 1 1 1 1 Y - - - - 3 Y - - - - Y - - - - Y Y -1 - 3 N 0 0 Reported as a rare, nonpathogenic variant. LSM8 Arg11Stop R11X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LSM8 Asp74Asn D74N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LUZP1 Glu729Asp E729D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - LUZP2 Pro299Ser P299S not reviewed Insufficiently evaluated not reviewed unknown Array 258 10758 0.0239822 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.251 - - 3 - 1 N - - LY6G6D His75Arg H75R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LYAR Asp151Asn D151N not reviewed Insufficiently evaluated not reviewed unknown Array rs2272739 518 10758 0.0481502 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.45 - - -1 - 2 - 3 - - LYRM1 Leu106Pro L106P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - LYSMD2 Gly153Arg G153R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - LYSMD2 Gly62Arg G62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LYST Thr1982Ile T1982I not reviewed Insufficiently evaluated not reviewed unknown Array 88 10756 0.00818148 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 3 - 9 - - LYST Thr1098Ile T1098I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 3 - 2 N - - LYST Thr37Met T37M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.762 Y Y 2 - 3 N - - LZTS1 Thr403Met T403M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MACROD2 Gln132Glu Q132E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MACROD2 Gln367Glu Q367E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.708 - - -2 - 1 N - - MAD1L1 Thr299Met T299M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10618 0.000565078 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 2 - 0 N - - MADD Phe290Ser F290S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 5 Y 3 N - - MAGEC1 Phe206Ser F206S not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - MAGEC1 Arg917Trp R917W not reviewed Insufficiently evaluated not reviewed unknown Array 28 8761 0.00319598 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - MAGEC1 Phe961Leu F961L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MAGEC2 Ser101Arg S101R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.559 - - 3 - 1 N - - MAGED2 Ser265Tyr S265Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - MALT1 Arg217Gly R217G not reviewed Insufficiently evaluated not reviewed unknown Array 317 10758 0.0294664 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAN2A2 Thr628Ala T628A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAN2A2 Ile897Val I897V not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAN2C1 Gln285Arg Q285R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - MANEA Asn113Asp N113D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - MAP3K1 Ser939Cys S939C not reviewed Insufficiently evaluated not reviewed unknown Array rs45556841 167 9810 0.0170234 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP3K13 Met544Val M544V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MAP3K13 Ala667Ser A667S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - MAP3K13 Arg930His R930H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MAP3K7 Ala357Gly A357G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - MAP3K9 Asp384Gly D384G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.18 - - 4 Y 0 N - - MAP7 Asp675Asn D675N not reviewed Insufficiently evaluated not reviewed unknown Array 42 10750 0.00390698 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - MAPK1 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MAPK14 Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - MAPK15 Val178Gly V178G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - MARCH3 Arg68Gln R68Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34821177 221 10758 0.0205429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 1 - 2 - - MARCH7 Thr417Arg T417R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 3 - 0 N - - MBD5 Cys46Tyr C46Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - MBL2 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 10 - - MBNL3 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.85 - - -4 - 2 N - - MBTPS1 Asn5Lys N5K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 1 - 0 N - - MCAT Phe162Val F162V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - MCM3 Ile295Leu I295L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - MCM9 Glu34Gln E34Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - -2 - 1 N - - MCOLN2 Lys368Ile K368I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734232 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MCTP2 Thr687Ala T687A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - MCTP2 Thr275Ala T275A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDGA2 Thr517Pro T517P not reviewed Insufficiently evaluated not reviewed unknown Array 26 9980 0.00260521 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - MDGA2 Thr288Pro T288P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - 4 Y 0 N - - MDN1 Glu159Asp E159D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MDP-1 Gly153Trp G153W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ME1 Val334Gly V334G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.943 - - 8 Y 2 N - - ME2 Thr499Lys T499K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.352 - - 3 - 1 N - - MED1 Cys1266Ser C1266S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 3 - 2 N - - MED12 Gly1884Ser G1884S not reviewed Insufficiently evaluated not reviewed unknown Array 45 8145 0.00552486 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MED12L Arg1920Gln R1920Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - MED26 Ser376Pro S376P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - MERTK Asn498Ser N498S not reviewed Insufficiently evaluated not reviewed unknown Array rs35858762 241 10758 0.0224019 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MERTK Val864Asp V864D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - 8 Y 1 N - - METTL7B Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - MFGE8 Asn30Thr N30T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MFSD2 Ala320Val A320V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFSD2 Ala307Val A307V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFSD4 Arg103His R103H not reviewed Insufficiently evaluated not reviewed unknown Array 416 10758 0.0386689 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MFSD8 Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - MGAT4A Ser59Pro S59P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.916 - - 3 - 2 N - - MGC26647 Asp160Asn D160N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MICAL1 Gln551Glu Q551E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - -2 - 0 N - - MICAL1 Gln465Glu Q465E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MICALCL Trp194Arg W194R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MID2 Cys658Arg C658R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MID2 Cys688Arg C688R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.656 - - 8 Y 1 N - - MINA Asp270Asn D270N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.782 - - -1 - 1 N - - MKI67 His2633Arg H2633R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - MKI67 His2273Arg H2273R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MKI67 Thr401Ile T401I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.569 - - 3 - 1 N - - MKI67 Thr761Ile T761I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.975 - - 3 - 2 N - - MKI67 Asp170Glu D170E not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - -2 - 1 N - - MKX Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array rs34806745 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 1 - 2 - - MLH3 Ser1373Ile S1373I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 5 Y 1 N - - MLH3 Ser1349Ile S1349I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MLH3 Lys231Gln K231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28756981 159 10750 0.0147907 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 1 - 7 - - MLL Glu502Lys E502K not reviewed Insufficiently evaluated not reviewed unknown Array rs9332772 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 2 - 4 - - MLL3 Pro309Ser P309S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MLLT1 Ser213Arg S213R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.453 - - 3 - 1 N - - MLLT4 Ser1171Gly S1171G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT4 Ser1186Gly S1186G not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT4 Ser1187Gly S1187G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MMP8 Gln450Stop Q450X not reviewed Insufficiently evaluated not reviewed unknown Array rs35231465 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - MMRN1 Pro1099Ser P1099S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MOCOS Ala281Val A281V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MOCOS Ala297Val A297V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 2 - 0 N - - MOCS1 Arg439Gln R439Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41273142 261 10750 0.0242791 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MOCS1 Arg423Gln R423Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MOGAT2 Arg13His R13H not reviewed Insufficiently evaluated not reviewed unknown Array rs34643721 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - MOGAT2 Cys313Tyr C313Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12281468 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 1 - 3 - - MOGAT3 Leu47Pro L47P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - MON1A His276Arg H276R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MON1A His438Arg H438R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MORN5 Tyr76His Y76H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - -1 - 1 N - - MOSC2 Met231Leu M231L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MOSC2 Val335Gly V335G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - MPHOSPH9 Ala280Val A280V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPPE1 Leu151Gln L151Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MRGPRX2 Phe78Leu F78L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 0 - 2 N - - MRGPRX4 Lys96Arg K96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MRGPRX4 Val124Ile V124I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733597 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - MRPL18 Arg173Gln R173Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 1 - 1 - - MRPL21 Val64Asp V64D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPL22 Gly154Ser G154S not reviewed Insufficiently evaluated not reviewed unknown Array rs3749671 249 10758 0.0231456 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 3 - 4 - - MRPL22 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 4 - - MRPL30 Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 1 - 0 N - - MRPL38 Asp371His D371H not reviewed Insufficiently evaluated not reviewed unknown Array 138 10750 0.0128372 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 1 - - MRPL38 Arg99Trp R99W not reviewed Insufficiently evaluated not reviewed unknown Array 135 10730 0.0125815 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 3 - 2 - - MRPL40 Trp121Stop W121X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MRPL46 Arg81Lys R81K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MRPS15 Leu167Ile L167I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - -2 - 2 N - - MRPS21 Arg50Cys R50C not reviewed Insufficiently evaluated not reviewed unknown Array rs10480 273 10758 0.0253765 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 8 Y 1 - 3 - - MRPS28 Leu89Phe L89F not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MRPS9 Ser114Asn S114N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MS4A14 Met405Thr M405T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - MS4A14 Met388Thr M388T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MS4A15 Ala57Ser A57S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MS4A15 Ala150Ser A150S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - MSLNL Pro251Ser P251S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9880 0.000202429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MST1R Cys548Gly C548G not reviewed Insufficiently evaluated not reviewed unknown Array 341 10758 0.0316973 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MTDH Ala238Ser A238S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - MTFR1 Asp45Glu D45E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTFR1 Asp78Glu D78E not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - MTHFD1 Thr194Pro T194P not reviewed Insufficiently evaluated not reviewed unknown Array 1275 10758 0.118516 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.699 - - 4 Y 0 N - - MTMR2 Tyr366Asn Y366N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - MTMR2 Tyr438Asn Y438N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 4 - 1 - - MTMR6 Asp195Asn D195N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MTMR8 Thr5Arg T5R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MTOR Ser1645Gly S1645G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - MTR Val345Ile V345I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MTUS1 Ser267Pro S267P not reviewed Insufficiently evaluated not reviewed unknown Array rs61733696 250 9916 0.0252118 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - MUC17 Leu1751Val L1751V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Gly2474Ser G2474S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Thr4027Met T4027M not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Val4247Met V4247M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Arg4832His R4832H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Arg673His R673H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Arg724His R724H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC7 Ala237Val A237V not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC7 Thr291Ile T291I not reviewed Insufficiently evaluated not reviewed unknown Array rs72655156 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYADM Thr15Met T15M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - MYBBP1A Asp916Asn D916N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - MYBBP1A Ala311Glu A311E not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.406 - - 3 - 1 N - - MYBL2 Val231Phe V231F not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - MYCBP2 Leu3419Phe L3419F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - MYH1 Met360Ile M360I not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.112 - - -1 - 0 N - - MYH10 Ser1938Pro S1938P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYH11 Ala914Gly A914G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MYH11 Ala921Gly A921G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MYH4 Ser1603Asn S1603N not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYH9 Arg1466Trp R1466W pathogenic Insufficiently evaluated pathogenic unknown Array 38 10758 0.00353226 1 0 2 0 0 2 Y - - 0 Y - - - Y - - Y - - - 0.997 Y Y 7 Y 4 N - - Predicted to be damaging, other substitutions in this gene cause a variety of dominantly-inherited syndromes. This variant is reported homozygously in one PGP participant and not seen in the other 63 genomes examined by GET-Evidence -- this is extremely unlikely. This variant hasn't been validated and may be a sequencing error. MYLK3 Glu687Lys E687K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - MYO15A Glu1433Lys E1433K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYO15A Arg2262His R2262H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10236 0.0017585 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - MYO16 Ala1676Pro A1676P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - MYO3A Asp854Gly D854G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.399 Y - 4 Y 2 N - - MYO5B Thr387Ile T387I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO9A Val1954Ile V1954I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO9A Asn1631Ile N1631I not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO9A Met1512Thr M1512T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO9A Asp1245Gly D1245G not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYOM2 Ser523Asn S523N not reviewed Insufficiently evaluated not reviewed unknown Array rs75318724 236 10758 0.0219372 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - MYST4 Leu434Ile L434I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.112 - - -2 - 0 N - - MYST4 Val1982Ala V1982A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - MYT1 Val346Ile V346I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.535 - - -4 - 1 N - - N-PAC Gln484His Q484H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - N4BP2 Pro908Ser P908S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - N4BP2L2 Gly209Val G209V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - N4BP2L2 Ala112Thr A112T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAAA Ser254Phe S254F not reviewed Insufficiently evaluated not reviewed unknown Array 6 9920 0.000604838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - NALCN His769Tyr H769Y not reviewed Insufficiently evaluated not reviewed unknown Array 231 10758 0.0214724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 1 N - - NAP1L4 Ala369Val A369V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9758 0.00020496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAPB Gly291Stop G291X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NARG2 Val357Asp V357D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.956 - - 8 Y 2 N - - NARG2 Val220Asp V220D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NAT1 Val211Ile V211I not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 10 - - NAT1 Ser214Ala S214A not reviewed Insufficiently evaluated not reviewed unknown Array rs4986783 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAT1 Ser276Ala S276A not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAV1 Asp487Asn D487N not reviewed Insufficiently evaluated not reviewed unknown Array rs61753858 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 3 - 3 - - NAV1 Ile1237Leu I1237L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NBN Leu574Ile L574I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.178 Y Y -2 - 2 N - - NBN Thr452Pro T452P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.358 Y Y 4 Y 3 N - - NBPF3 Arg81Cys R81C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740199 347 10758 0.0322551 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - NCDN Trp402Arg W402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NCDN Trp385Arg W385R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCK1 Glu354Asp E354D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.235 - - -2 - 1 N - - NCKIPSD Tyr448His Y448H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.635 - - -1 - 1 N - - NCKIPSD Tyr441His Y441H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NCOA3 Gln586His Q586H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230782 738 10758 0.0686001 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 1 - 10 - - NDST4 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - NDUFA9 Pro294Leu P294L not reviewed Insufficiently evaluated not reviewed unknown Array rs34076756 185 10758 0.0171965 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - NDUFS3 Phe174Ser F174S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - 5 Y 3 N - - NDUFV3 Lys230Ile K230I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEBL Asp378His D378H not reviewed Insufficiently evaluated not reviewed unknown Array rs41277370 649 10754 0.0603496 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 1 N - - NEBL Met351Val M351V not reviewed Insufficiently evaluated not reviewed unknown Array rs4025981 651 10758 0.0605131 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 1 N - - NEBL Pro4Leu P4L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10754 0.00455644 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 9 - - NECAB3 Trp349Stop W349X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NECAB3 Trp315Stop W315X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NEFH Val670Glu V670E not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NEFM Pro123His P123H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NEFM Pro499His P499H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NEGR1 Tyr347Ser Y347S not reviewed Insufficiently evaluated not reviewed unknown Array rs41289154 265 10758 0.0246328 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - NELL1 Phe211Val F211V not reviewed Insufficiently evaluated not reviewed unknown Array rs35809043 227 10756 0.0211045 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 3 - 3 - - NELL2 Thr547Ile T547I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NELL2 Thr548Ile T548I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - NELL2 Thr571Ile T571I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NELL2 Thr598Ile T598I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NETO2 Ala431Thr A431T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEURL4 Gly1120Arg G1120R not reviewed Insufficiently evaluated not reviewed unknown Array rs79385421 208 10698 0.0194429 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.109 - - 6 Y 0 N - - NEURL4 Gly1118Arg G1118R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NF1 Gln2700Arg Q2700R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NF1 Gln2721Arg Q2721R benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 1 - - - - - - - Y - - - 0.924 Y Y 0 - 4 N 0 0 Rare, tentatively evaluated as benign. Predicted to be damaging by Polyphen 2, but other variants are predicted to cause disease in a dominant manner and this variant is present in a healthy PGP participant. NFE2 Cys68Stop C68X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NFU1 Arg72Cys R72C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NFU1 Arg96Cys R96C not reviewed Insufficiently evaluated not reviewed unknown Array 290 10758 0.0269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NHLRC2 Leu584Pro L584P not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NHLRC2 Ala608Val A608V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NHLRC3 Asp249Tyr D249Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NHLRC3 Asp316Tyr D316Y not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.376 - - 7 Y 1 N - - NHS Pro395Ser P395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - NHS Pro551Ser P551S not reviewed Insufficiently evaluated not reviewed unknown Array 681 8761 0.0777308 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 - 3 - - NID1 Arg757His R757H not reviewed Insufficiently evaluated not reviewed unknown Array rs35714220 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - NIF3L1 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 9532 0.000734368 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIF3L1 Arg200Gln R200Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIN Met1237Ile M1237I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - NIN Met1243Ile M1243I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIPAL2 Gly92Asp G92D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - NKRF Asp125Ala D125A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - NKRF Tyr100His Y100H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.45 - - -1 - 1 N - - NLGN3 Asn551Lys N551K not reviewed Insufficiently evaluated not reviewed unknown Array 73 8761 0.00833238 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NLRC4 Tyr367His Y367H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - NLRP11 Ser1025Leu S1025L not reviewed Insufficiently evaluated not reviewed unknown Array rs11671248 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 1 - 1 - - NLRP11 Gly746Arg G746R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NLRP14 Val441Met V441M not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - NLRP3 Lys142Arg K142R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - NLRP7 Ala494Thr A494T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - NLRP8 Thr661Ile T661I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.276 - - 3 - 1 N - - NLRP8 Asn877Lys N877K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - NLRP9 Glu732Asp E732D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.31 - - -2 - 1 N - - NNT Trp43Cys W43C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 3 - 4 - - NNT Thr731Met T731M not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NNT Thr802Ile T802I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 3 - 2 N - - NOC3L Glu45Gly E45G not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NOL10 Glu554Gln E554Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.713 - - -2 - 1 N - - NOL10 Asn209Asp N209D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - NOMO1 Asp887Ala D887A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.256 - - 5 Y 1 N - - NOV Val327Ile V327I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.143 - - -4 - 0 N - - NOX5 Ser264Arg S264R not reviewed Insufficiently evaluated not reviewed unknown Array 131 10754 0.0121815 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPC1L1 Ala1317Val A1317V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPC1L1 Ala1290Val A1290V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPC1L1 Thr323Pro T323P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NPHP3 Pro965Leu P965L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.563 Y - 7 Y 2 N - - NPHP3 Leu818Phe L818F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.565 Y - 0 - 2 N - - NQO2 Gly58Asp G58D not reviewed Insufficiently evaluated not reviewed unknown Array rs17300141 233 10758 0.0216583 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 9 - - NR1D2 Asn257Ser N257S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR1D2 Asn332Ser N332S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR1D2 Val358Asp V358D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR1D2 Val283Asp V283D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Leu1496Pro L1496P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - NRAP Leu1531Pro L1531P not reviewed Insufficiently evaluated not reviewed unknown Array rs11196389 1076 10758 0.100019 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 - 4 - - NRD1 Asp155Glu D155E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NRG1 Ala127Pro A127P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - NRG3 Glu651Lys E651K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRIP1 Arg448Gly R448G not reviewed Insufficiently evaluated not reviewed unknown Array rs2229742 802 10758 0.0745492 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 - 10 - - NRIP3 Arg160Trp R160W not reviewed Insufficiently evaluated not reviewed unknown Array rs61756060 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - NRP1 Phe561Leu F561L not reviewed Insufficiently evaluated not reviewed unknown Array rs2228637 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - NRP2 Arg287Gln R287Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.766 - - 0 - 1 N - - NSD1 Ala691Thr A691T not reviewed Insufficiently evaluated not reviewed unknown Array rs28932177 199 10758 0.0184979 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 1 - 3 - 6 - - NSD1 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - NSD1 Ala767Pro A767P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NSD1 Ala1036Pro A1036P not reviewed Insufficiently evaluated not reviewed unknown Array rs28932179 284 10758 0.026399 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 2 - 3 - 3 - - NSUN2 Arg695Leu R695L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - NT5E Pro498Leu P498L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - NTM Leu335Phe L335F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 0 - 0 N - - NTM Leu346Phe L346F not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDCD1 Lys468Asn K468N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUDCD1 Lys497Asn K497N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - NUDT6 Gly19Arg G19R not reviewed Insufficiently evaluated not reviewed unknown Array 127 9578 0.0132596 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - NUDT9 Phe44Leu F44L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 0 - 0 N - - NUFIP2 Gly204Ser G204S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10756 0.0026032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUMB Leu467Phe L467F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - NUMB Leu456Phe L456F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUMB Leu419Phe L419F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUMB Leu408Phe L408F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP107 Thr303Ile T303I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NUP153 Asp610Ala D610A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228377 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NUP188 Thr406Ala T406A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - NUP205 Gln118His Q118H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - NUP210 Ser574Ile S574I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 5 Y 2 N - - NUP98 Arg1355Gln R1355Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUPL1 Gly8Glu G8E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NWD1 Val588Phe V588F not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NWD1 Gly1045Ser G1045S not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OCEL1 Gly174Arg G174R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.263 - - 6 Y 1 N - - ODZ1 Asn1532Ile N1532I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - OFD1 Gln545Arg Q545R benign Low clinical importance, Uncertain benign unknown Array 1 8761 0.000114142 1 0 2 0 0 ! Y - - 2 Y - - - - - - Y - - - 0.991 Y Y 0 - 4 N 0 0 Rare, tentatively evaluated as benign. Polyphen 2 predicts damaging effect, but this is variant found in a healthy male PGP participant. OLAH Ala219Pro A219P not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - OLAH Ala272Pro A272P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OLFML1 Arg193Gln R193Q not reviewed Insufficiently evaluated not reviewed unknown Array 483 10758 0.0448968 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - OPA1 Thr731Ile T731I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 1 - - OPA1 Thr713Ile T713I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 4 - 3 - - OPA1 Thr695Ile T695I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OPA1 Thr694Ile T694I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OPA1 Thr677Ile T677I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OPA1 Thr676Ile T676I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.742 Y Y 3 - 3 N - - OPA1 Thr658Ile T658I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OPA1 Thr640Ile T640I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OPRM1 Tyr419Cys Y419C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10034 0.000298983 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OPTC Ile182Thr I182T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - OR10A3 Thr279Met T279M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 2 - 1 N - - OR10AD1 Arg123His R123H not reviewed Insufficiently evaluated not reviewed unknown Array 257 10758 0.0238892 6 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR10C1 Leu255Ile L255I not reviewed Insufficiently evaluated not reviewed unknown Array rs10946991 11 128 0.0859375 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 1 - 4 - - OR10C1 Thr307Met T307M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10Q1 Ala318Thr A318T not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10Q1 Thr23Pro T23P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - OR10S1 Tyr190His Y190H not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - OR13C5 Ala306Val A306V not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - OR14I1 Val304Glu V304E not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR1A1 Thr245Met T245M not reviewed Insufficiently evaluated not reviewed unknown Array rs62090945 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - OR1C1 Met280Val M280V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1C1 Met197Val M197V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - OR1M1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - OR1S1 Cys140Tyr C140Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR2AK2 Val30Ala V30A not reviewed Insufficiently evaluated not reviewed unknown Array rs41304159 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - OR2AT4 Thr296Met T296M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 1 N - - OR2D2 Ala99Asp A99D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2G2 Thr243Ile T243I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - OR2M2 Ile332Val I332V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR2M7 Asp271Glu D271E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - OR2T1 Pro183Leu P183L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - OR2T4 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2T6 Tyr73Stop Y73X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR2V2 Tyr253Stop Y253X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR4A47 Ser308Gly S308G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4A5 Ser312Tyr S312Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 10690 0.000748362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4D6 Glu11Gln E11Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17153766 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.674 - - -2 - 2 - 2 - - OR4F15 Ile135Met I135M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - -1 - 0 N - - OR4F15 Ala272Thr A272T not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.423 - - 1 - 0 N - - OR4K13 Leu106Phe L106F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4K2 Met312Ile M312I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - OR4N5 Met112Val M112V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - OR51A4 Met67Thr M67T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 3 - 1 - - OR51F1 Met257Lys M257K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR51G1 Asn44Ile N44I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR51I2 Val258Ile V258I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.785 - - -4 - 1 N - - OR51Q1 Met84Ile M84I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR52A1 Gly21Asp G21D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.78 - - 4 Y 1 N - - OR52A5 Ile187Val I187V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - OR52E4 Val156Asp V156D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - OR52E8 Gly102Asp G102D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52K1 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - OR52K2 Arg265His R265H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - OR52N1 Lys172Asn K172N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - OR5A1 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array rs17153732 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.974 - - -4 - 3 - 4 - - OR5AR1 Thr263Arg T263R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.037 - - 3 - 0 N - - OR5B17 Pro24Leu P24L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.198 - - 7 Y 0 N - - OR5B2 Leu53Ile L53I not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.854 - - -2 - 1 N - - OR5B3 Met57Ile M57I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - -1 - 1 N - - OR5B3 Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array rs17152661 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - OR5D13 Phe35Ile F35I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5D14 Thr256Ile T256I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OR5D18 Val215Asp V215D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.688 - - 8 Y 1 N - - OR5H2 Val302Ala V302A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10734 0.000186323 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 2 - 1 N - - OR5I1 Ile210Asn I210N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.413 - - 7 Y 1 N - - OR5K1 Val282Ala V282A not reviewed Insufficiently evaluated not reviewed unknown Array 78 10522 0.00741304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5T1 Thr121Ser T121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -2 - 2 N - - OR6C1 Ser311Arg S311R not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.252 - - 3 - 1 N - - OR6C2 Leu164Ile L164I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - OR6C76 Thr107Met T107M not reviewed Insufficiently evaluated not reviewed unknown Array 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.322 - - 2 - 1 N - - OR6C76 Ser145Phe S145F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 5 Y 2 N - - OR6Y1 Ile310Thr I310T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - OR7G2 Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62621389 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8B8 Gly155Glu G155E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - OR8K3 Leu207Phe L207F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OR9A2 Arg298Gln R298Q not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - OR9A2 Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR9A4 Val204Gly V204G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.419 - - 8 Y 1 N - - OR9G4 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR9I1 Ala188Pro A188P not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - OR9Q2 Val206Ile V206I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - -4 - 2 N - - ORC1L Gly104Asp G104D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - ORC4L Leu56Val L56V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 5 - - OSBPL8 Thr74Arg T74R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSBPL8 Thr116Arg T116R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - OTUD4 Ser886Phe S886F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTUD4 Ser887Phe S887F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTUD4 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs36225838 321 10756 0.0298438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P2RX7 Gly150Arg G150R not reviewed Insufficiently evaluated not reviewed unknown Array rs28360447 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 9 - - P4HTM Ile227Val I227V not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - PABPC1 Leu524Arg L524R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PABPC1 Arg493Cys R493C not reviewed Insufficiently evaluated not reviewed unknown Array 3505 10758 0.325804 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 1 N - - PACSIN3 Glu45Asp E45D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.326 - - -2 - 1 N - - PAK2 Thr385Ala T385A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.124 - - 1 - 0 N - - PAK4 Arg135Gln R135Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56099436 122 8836 0.0138072 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 2 - 2 - - PAK6 Thr99Pro T99P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.686 - - 4 Y 1 N - - PALM2 Asn307Ser N307S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALM2 Asn273Ser N273S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAPPA Ser637Ile S637I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PAPPA Val792Ile V792I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAQR7 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - PARD3B Glu250Lys E250K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PARD6A Asn238Thr N238T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - PARD6A Asn237Thr N237T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARK7 Ala56Thr A56T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PARP12 Ala620Val A620V not reviewed Insufficiently evaluated not reviewed unknown Array rs17161356 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 3 - 2 - - PARP2 Arg283Gln R283Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 7 - - PARP2 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3093926 481 10066 0.0477846 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 1 - 7 - - PARP4 Ser984Ile S984I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PARS2 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - PASK Thr1195Met T1195M not reviewed Insufficiently evaluated not reviewed unknown Array rs41266953 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PASK Glu796Lys E796K not reviewed Insufficiently evaluated not reviewed unknown Array rs35129131 228 10758 0.0211935 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - PCCA Ile475Val I475V benign Low clinical importance, Uncertain benign unknown Array rs35719359 406 10758 0.0377394 2 0 2 1 1 1 Y - - 2 Y - - - - - - Y - - - - Y - -4 - 2 N 0 0 Reported as a polymorphism, tentatively presumed benign. PCCA Ile449Val I449V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 3 - 1 - - PCCB Thr304Ile T304I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.158 Y - 3 - 1 N - - PCDH15 Thr1875Met T1875M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10756 0.00502045 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1870Met T1870M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1868Met T1868M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1865Met T1865M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1848Met T1848M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1845Met T1845M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1828Met T1828M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Thr1799Met T1799M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PCDH15 Val1141Ile V1141I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - PCDH15 Val1156Ile V1156I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 4 - 1 - - PCDH15 Val1178Ile V1178I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -4 - 2 N - - PCDH15 Val1183Ile V1183I not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Val1190Ile V1190I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PCDH15 Val1107Ile V1107I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.05 Y Y -4 - 2 N - - PCDH18 Thr1022Ala T1022A not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDH21 Ser760Ile S760I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDH9 Asn48Ile N48I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHA4 Asn468Thr N468T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA7 Ser88Cys S88C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA8 Pro458Ser P458S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB12 Ile312Thr I312T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729948 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 1 - - PCDHB2 Thr83Ile T83I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - PCDHB7 Glu120Lys E120K not reviewed Insufficiently evaluated not reviewed unknown Array rs17286891 862 10758 0.0801264 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - PCDHGC3 Val32Ile V32I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHGC3 Val800Gly V800G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCTK3 Phe138Leu F138L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCTK3 Phe168Leu F168L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCTP Ala135Thr A135T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.755 - - 1 - 1 N - - PCTP Ala63Thr A63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PCYOX1L Ala222Val A222V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - PDCL Leu4Phe L4F not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 1 - 5 - - PDCL3 Lys108Arg K108R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10754 0.000929886 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - -3 - 2 N - - PDCL3 Glu217Gly E217G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 6 Y 0 N - - PDE3A Ser58Phe S58F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.508 - - 5 Y 1 N - - PDE4C Tyr96Cys Y96C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE4C Tyr128Cys Y128C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734285 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 6 Y 2 N - - PDE4C Tyr22Cys Y22C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE6A His655Tyr H655Y not reviewed Insufficiently evaluated not reviewed unknown Array 226 10758 0.0210076 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PDE6A Val391Met V391M not reviewed Insufficiently evaluated not reviewed unknown Array rs61732059 185 10758 0.0171965 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 3 - 2 - - PDE6A Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array rs35431421 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - PDGFB Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - PDGFB Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PDHA2 Arg286Pro R286P not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - PDIA4 Thr173Met T173M not reviewed Insufficiently evaluated not reviewed unknown Array rs2290971 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.857 - - 2 - 3 - 7 - - PDIA6 Val48Leu V48L not reviewed Insufficiently evaluated not reviewed unknown Array 458 10758 0.042573 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.226 - - 0 - 1 N - - PDK4 Met134Val M134V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PDLIM3 Asp239Asn D239N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - PDLIM3 Asp191Asn D191N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDZD2 Asp6Asn D6N not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - PDZD2 Glu1735Asp E1735D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - PDZRN4 Tyr575Cys Y575C not reviewed Insufficiently evaluated not reviewed unknown Array rs11181011 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PEX1 Asn271Ser N271S not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PEX16 Val254Leu V254L not reviewed Insufficiently evaluated not reviewed unknown Array rs35214605 203 10732 0.0189154 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PEX5L His583Asp H583D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - PEX6 Arg928His R928H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PFAS Phe1314Cys F1314C not reviewed Insufficiently evaluated not reviewed unknown Array rs62637606 508 10758 0.0472207 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PFTK2 Arg13Gly R13G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PGBD2 Pro247Ser P247S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PGBD5 Pro128Arg P128R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.567 - - 5 Y 1 N - - PGK2 Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - PGLYRP3 Ala272Val A272V not reviewed Insufficiently evaluated not reviewed unknown Array rs34391119 209 10758 0.0194274 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.592 - - 2 - 1 N - - PGLYRP3 Arg68Gln R68Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PGM2 Ile70Thr I70T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGR Pro696Ser P696S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - PHAX Lys184Glu K184E not reviewed Insufficiently evaluated not reviewed unknown Array rs62617159 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - PHC2 Asn5Ile N5I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 10 - - PHC2 Asn540Ile N540I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - PHC2 Leu531Phe L531F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.274 - - 0 - 1 N - - PHF15 Gly368Val G368V not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - PHF16 Tyr593Asp Y593D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - PHF19 Val154Gly V154G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.654 - - 8 Y 1 N - - PHIP Pro685Gln P685Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.505 - - 4 Y 1 N - - PHIP Thr408Asn T408N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.147 - - 1 - 0 N - - PHKA2 Thr158Ala T158A not reviewed Insufficiently evaluated not reviewed unknown Array 24 8761 0.00273941 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.555 Y - 1 - 3 - 2 - - PHLDA3 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array 406 10670 0.0380506 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 3 - 2 - - PHLDB2 Phe743Leu F743L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHLDB2 Phe770Leu F770L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHLDB2 Phe786Leu F786L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - PHOX2A Arg88Gly R88G not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 6 Y 3 N - - PIBF1 Leu598Arg L598R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10752 0.00223214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 6 Y 1 N - - PIBF1 Ile630Val I630V not reviewed Insufficiently evaluated not reviewed unknown Array rs11544631 231 10758 0.0214724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -4 - 1 - 2 - - PIGO Phe1055Leu F1055L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PIGO Phe638Leu F638L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - PIGP Tyr118Cys Y118C not reviewed Insufficiently evaluated not reviewed unknown Array rs16994704 171 10754 0.0159011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 2 - - PIGP Tyr94Cys Y94C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 3 - 2 - - PIGT Val123Leu V123L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - PIK3C2A Asn416Asp N416D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PIK3R4 Gly1218Ser G1218S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - PIK3R4 Glu73Asp E73D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - PIKFYVE Arg572Gln R572Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.996 - - 0 - 2 N - - PITPNM1 Gly54Ser G54S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PIWIL1 Tyr287Asp Y287D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.799 - - 7 Y 1 N - - PIWIL2 Trp434Arg W434R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PIWIL2 Ala618Val A618V not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.788 - - 2 - 1 N - - PIWIL4 Tyr706Cys Y706C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - PKD1L1 Gln2710His Q2710H not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PKD1L1 Arg2358Cys R2358C not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 2 N - - PKD1L1 Arg2281Gln R2281Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.709 - - 0 - 1 N - - PKD1L1 Leu403Pro L403P not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - PKD1L1 Arg303Gln R303Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PKD1L2 Ala877Asp A877D not reviewed Insufficiently evaluated not reviewed unknown Array 680 10308 0.0659682 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PKD1L2 Thr434Pro T434P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD2 Ser804Asn S804N pathogenic High clinical importance, Uncertain pathogenic dominant Array 28 10758 0.00260271 1 0 1 2 2 2 Y - - 0 Y - - 4 - 1 - Y - - - 0.875 Y Y 0 - 5 - 1 2 0 Predicted to cause autosomal dominant polycystic kidney disease, but without control allele frequency the report cannot be tested for statistical significance. PKDREJ Val2162Ile V2162I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PKDREJ Thr2065Ile T2065I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PKHD1 Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PKP2 Ser140Phe S140F pathogenic Low clinical importance, Uncertain pathogenic dominant Array 26 10758 0.00241681 1 0 1 5 5 ! Y 0 - 2 Y ! Y 4 - 3 - Y - - - - Y Y 5 Y Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autos 7 328 5 845 3.607 4 - 4 0 0 Implicated as causing Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy in a dominant manner. However, it fails to segregate with disease in studied families and has also been seen in controls. It is unclear whether there is any significant enrichment for this variant in patients -- even if so, we estimate the increased risk of ARVD for a carrier of this variant to be quite low (less than .1%). PKP4 Ala321Pro A321P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKP4 Met820Thr M820T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLA1A Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733987 258 10758 0.0239822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 1 - 0 N - - PLA1A Phe399Leu F399L not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PLA2G16 Ala45Pro A45P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - 2 - 1 N - - PLCB4 Thr558Ile T558I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCE1 Ala1043Asp A1043D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.981 Y - 5 Y 3 N - - PLCG2 Ile671Val I671V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10212 0.00225225 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - -4 - 1 N - - PLCH1 Pro1377Ser P1377S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCH1 Pro1415Ser P1415S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.931 - - 3 - 2 N - - PLCL1 Gln368Arg Q368R not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 Y - 0 - 1 N - - PLCL1 Gln270Arg Q270R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 Y - 0 - 1 N - - PLEC1 Ala2560Thr A2560T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala2450Thr A2450T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala2427Thr A2427T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala2423Thr A2423T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 1 - - PLEC1 Ala2409Thr A2409T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala2401Thr A2401T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEC1 Ala2391Thr A2391T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PLEKHA5 Leu740Val L740V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - 0 - 1 N - - PLEKHA5 Leu671Val L671V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PLEKHA5 Gly923Val G923V not reviewed Insufficiently evaluated not reviewed unknown Array rs34017618 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - PLEKHA5 Gly912Val G912V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEKHA9 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEKHG2 Ala255Val A255V not reviewed Insufficiently evaluated not reviewed unknown Array 488 10758 0.0453616 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - PLEKHG2 Pro706Ala P706A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHH2 Thr428Ser T428S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEKHO1 Glu321Asp E321D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - PLK2 His60Asp H60D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10722 0.00111919 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - PLRG1 Leu130Ile L130I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - PLSCR3 Ala273Ser A273S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLXNA1 Cys512Gly C512G not reviewed Insufficiently evaluated not reviewed unknown Array 112 10702 0.0104653 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLXNA2 Thr1151Ala T1151A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNA2 Val623Ile V623I not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLXNA3 Arg350Gln R350Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35285799 349 8753 0.039872 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.604 - - 0 - 2 - 1 - - PMP22 Tyr136Ser Y136S pathogenic High clinical importance, Uncertain pathogenic recessive Array 2 10758 0.000185908 1 0 1 0 0 2 Y - - 0 Y - - 4 Y 1 - Y - - - 1.0 Y Y 5 Y 4 N 2 0 Unreported, predicted to be damaging. Other recessive mutations in this gene reported to cause Charcot-Marie-Tooth disease or Dejerine-Sottas disease. PMS1 Phe419Ser F419S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PMS1 Phe458Ser F458S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PNMA5 Gly428Glu G428E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - PNPLA5 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - 1 - 2 N - - PODXL Leu7Pro L7P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PODXL2 Lys148Glu K148E not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 0 - 1 N - - POF1B Cys239Ser C239S not reviewed Insufficiently evaluated not reviewed unknown Array 72 8761 0.00821824 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 2 - - POLA1 Asn935Asp N935D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - POLE Arg259His R259H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732929 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - POLG2 Gly416Ala G416A benign Low clinical importance, Uncertain benign unknown Array rs17850455 128 10754 0.0119025 2 0 2 1 1 - - 1 Y 1 Y - - - - - - Y - - - 0.999 Y - 1 - 4 Y 0 0 Rare but presumed benign. It was believed to be non-causal in a patient with a different mutation, and functional analysis found no difference from wild type. POLG2 Leu153Val L153V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 0 - 2 - 1 - - POLQ Ala2464Thr A2464T not reviewed Insufficiently evaluated not reviewed unknown Array rs41540016 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR3K Gly11Val G11V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - POMC Cys6Ser C6S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 3 - 2 - 3 - - POMT1 Arg659Cys R659C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - POMT1 Arg596Cys R596C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - POMT1 Arg735Cys R735C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 8 Y 4 - 1 - - POMT1 Arg713Cys R713C not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - POPDC3 Met90Ile M90I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - POTEB Leu480Phe L480F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POU2F1 Ala142Pro A142P not reviewed Insufficiently evaluated not reviewed unknown Array 777 10752 0.0722656 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPA2 Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - PPAT Ala171Gly A171G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - PPCDC Ala112Ser A112S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - PPCDC Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.32 - - 2 - 1 N - - PPEF2 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array rs61756411 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 3 - 3 - - PPEF2 Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array rs28436183 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 3 - 1 - - PPFIBP2 Ile316Thr I316T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPIC Lys86Arg K86R not reviewed Insufficiently evaluated not reviewed unknown Array rs34341374 290 10758 0.0269567 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 1 - 3 - - PPIL3 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PPIL3 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPIL6 Ala133Thr A133T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPIL6 Ala101Thr A101T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPL Glu1546Asp E1546D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPM1F His312Leu H312L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - PPM1G Thr499Ile T499I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PPP1R8 Met150Ile M150I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP1R8 Met292Ile M292I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 0 N - - PPP1R8 Met68Ile M68I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP2R2C Pro315Ser P315S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP2R5A Phe132Leu F132L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.864 - - 0 - 2 N - - PPP2R5C Asp406Gly D406G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.86 - - 4 Y 2 N - - PPP2R5D Lys454Thr K454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP2R5D Lys528Thr K528T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP2R5D Lys560Thr K560T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - PPP2R5E Lys449Arg K449R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - -3 - 0 N - - PPP3CC Val385Ile V385I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPP4R1 His932Pro H932P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.93 - - 5 Y 2 N - - PPP4R1 His915Pro H915P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP4R1 Ser538Gly S538G not reviewed Insufficiently evaluated not reviewed unknown Array 6 9824 0.000610749 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - PPP4R1 Ser521Gly S521G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP4R1 Ile453Val I453V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 5 - - PPP4R1 Ile470Val I470V not reviewed Insufficiently evaluated not reviewed unknown Array rs329003 760 9524 0.0797984 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 - 5 - - PPP4R4 Thr845Pro T845P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPRC1 Ser650Stop S650X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRAGMIN Gly340Asp G340D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRAMEF2 Tyr245Ser Y245S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRC1 Arg469Gln R469Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - PRDM1 Gly637Asp G637D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM1 Gly771Asp G771D not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM13 Arg147Gly R147G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRDM15 Val266Leu V266L not reviewed Insufficiently evaluated not reviewed unknown Array rs62621406 673 10758 0.0625581 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 1 - - PRDM4 Val345Leu V345L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - PRDM7 Gly51Val G51V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRDM7 Gly257Val G257V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRELP Ser179Ile S179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 5 Y 2 N - - PREX2 Glu973Gly E973G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRG-3 Ser12Ala S12A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRKCA Asn647Asp N647D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.557 - - -1 - 1 N - - PRKD3 Gln833Arg Q833R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - PRKG1 Asn267Ser N267S not reviewed Insufficiently evaluated not reviewed unknown Array rs34997494 434 10758 0.0403421 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PRKG1 Asn282Ser N282S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - PRLHR Pro19Leu P19L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10196 0.00578658 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRND Thr26Met T26M not reviewed Insufficiently evaluated not reviewed unknown Array rs41279424 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 1 - 10 - - PROSC Lys81Arg K81R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRPF38A Leu54Ser L54S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PRPF4B Arg286His R286H not reviewed Insufficiently evaluated not reviewed unknown Array rs45509297 22 10756 0.00204537 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRPF8 Asn1130Ser N1130S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.974 Y - 0 - 3 N - - PRTG Val870Gly V870G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - 8 Y 2 N - - PRTG Lys157Arg K157R not reviewed Insufficiently evaluated not reviewed unknown Array 57 9760 0.00584016 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - -3 - 1 N - - PRTG Glu104Asp E104D not reviewed Insufficiently evaluated not reviewed unknown Array 27 9800 0.0027551 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PRTN3 Arg249His R249H not reviewed Insufficiently evaluated not reviewed unknown Array 79 10748 0.0073502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 3 - 1 - - PRUNE Ala448Val A448V not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSD3 Arg383Cys R383C not reviewed Insufficiently evaluated not reviewed unknown Array 79 9822 0.00804317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - PSG3 Asn327Asp N327D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - -1 - 0 N - - PSG3 Gly86Arg G86R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 6 Y 0 N - - PSG4 Ala63Thr A63T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSG6 Ser364Phe S364F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSMG1 Glu151Gly E151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PSPC1 Asn169Asp N169D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - PTAFR Cys103Stop C103X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PTCD2 Val65Gly V65G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.56 - - 8 Y 1 N - - PTCH2 Gly195Glu G195E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - PTDSS1 Gln28Leu Q28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - PTDSS1 Thr423Asn T423N not reviewed Insufficiently evaluated not reviewed unknown Array rs7835798 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - PTER Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.501 - - 0 - 2 - 10 - - PTER Ala131Pro A131P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - PTK2B Val882Glu V882E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTK2B Val924Glu V924E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - PTPDC1 Glu366Asp E366D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - PTPDC1 Glu418Asp E418D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPDC1 Val449Asp V449D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - PTPDC1 Val501Asp V501D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPDC1 Val604Ile V604I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PTPDC1 Val656Ile V656I not reviewed Insufficiently evaluated not reviewed unknown Array rs61755091 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRF His1730Gln H1730Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - PTPRF His1721Gln H1721Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPRH Leu226Pro L226P not reviewed Insufficiently evaluated not reviewed unknown Array rs45493898 303 10758 0.0281651 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 3 - 1 - - PTPRJ Ser635Arg S635R not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - PTPRR Gly293Glu G293E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - PTPRR Gly538Glu G538E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.049 - - 6 Y 0 N - - PTPRR Val194Ile V194I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRR Val439Ile V439I not reviewed Insufficiently evaluated not reviewed unknown Array rs35390084 416 10752 0.0386905 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRT Glu1384Gly E1384G not reviewed Insufficiently evaluated not reviewed unknown Array 382 10178 0.0375319 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRT Glu1365Gly E1365G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRZ1 Val1024Leu V1024L not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - PUS3 Arg53His R53H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - PUS7L Val197Leu V197L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10756 0.0045556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - PVRL4 Leu427His L427H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - PWP1 Leu288Phe L288F not reviewed Insufficiently evaluated not reviewed unknown Array rs11547907 357 10758 0.0331846 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PWP2 Gly839Arg G839R not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - PXMP3 Trp250Arg W250R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PYGO1 Lys321Arg K321R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 1 N - - PYHIN1 Tyr20His Y20H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.954 - - -1 - 2 N - - QRICH2 Pro1077Arg P1077R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - QRSL1 Val355Leu V355L not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - QSER1 Asn501Thr N501T not reviewed Insufficiently evaluated not reviewed unknown Array 49 9608 0.00509992 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - QSK Arg984Cys R984C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 9 - - QSOX2 Gly207Ala G207A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - QTRT1 Val294Met V294M not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - RAB7A Glu116Lys E116K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - RAD1 Gly114Asp G114D not reviewed Insufficiently evaluated not reviewed unknown Array rs2308957 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.976 - Y 4 Y 3 N - - RAD23A Thr200Met T200M not reviewed Insufficiently evaluated not reviewed unknown Array rs4987202 86 10738 0.00800894 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 1 - 9 - - RAD50 Ala373Ser A373S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAD50 Ala512Ser A512S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAD51AP2 Cys533Tyr C533Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62130402 265 9146 0.0289744 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAD51AP2 Gln490His Q490H not reviewed Insufficiently evaluated not reviewed unknown Array rs62130404 306 9460 0.0323467 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - RAD51AP2 Thr488Ile T488I not reviewed Insufficiently evaluated not reviewed unknown Array rs62130405 302 9468 0.0318969 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.375 - - 3 - 1 N - - RAD51L1 Leu172Trp L172W not reviewed Insufficiently evaluated not reviewed unknown Array rs34094401 325 10758 0.0302101 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.721 - - 5 Y 2 - 3 - - RAD51L1 Lys243Arg K243R not reviewed Insufficiently evaluated not reviewed unknown Array rs34594234 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - RAD52 Ser346Stop S346X not reviewed Insufficiently evaluated not reviewed unknown Array rs4987207 104 9942 0.0104607 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 3 - 1 - - RAET1E Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - RAET1E Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61747261 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.399 - - 0 - 1 N - - RAET1G Leu141Phe L141F not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAI2 Val307Ile V307I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAI2 Val113Ile V113I not reviewed Insufficiently evaluated not reviewed unknown Array 3 8760 0.000342465 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RALBP1 Leu24Val L24V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RALGDS Ser196Leu S196L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RALGDS Ser251Leu S251L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - RANBP10 Val615Ala V615A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 2 - 2 N - - RANBP17 Val1069Gly V1069G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - RANBP6 Asp662Asn D662N not reviewed Insufficiently evaluated not reviewed unknown Array rs61758806 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - -1 - 0 N - - RAP1GDS1 Val106Met V106M not reviewed Insufficiently evaluated not reviewed unknown Array rs61758810 24 9786 0.00245248 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 2 - - RAP1GDS1 Val105Met V105M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAPGEF3 Tyr415Cys Y415C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAPGEF3 Tyr457Cys Y457C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RARS2 Val235Met V235M not reviewed Insufficiently evaluated not reviewed unknown Array rs35862137 336 10758 0.0312326 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - RASGEF1C Cys413Arg C413R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RASSF2 Arg78Stop R78X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RB1CC1 Leu45Gln L45Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - RBAK Ser274Pro S274P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - RBL2 Arg116Gly R116G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 3 - 1 - - RBL2 Glu575Gln E575Q not reviewed Insufficiently evaluated not reviewed unknown Array 171 10754 0.0159011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - RBM23 Met334Val M334V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10126 0.000691289 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - RBM23 Met318Val M318V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM23 Met300Val M300V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM28 Val319Ile V319I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733109 387 10758 0.0359732 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 1 - - RBM28 Glu253Gln E253Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11554671 386 10758 0.0358803 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 1 - 2 - - RBM43 Val34Leu V34L not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM43 Ala12Asp A12D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 5 Y 1 N - - RBM6 Ser353Phe S353F not reviewed Insufficiently evaluated not reviewed unknown Array rs61731329 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 2 - 2 - - RCN3 Asn283Lys N283K not reviewed Insufficiently evaluated not reviewed unknown Array 105 10732 0.00978382 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - RCOR2 Thr364Ile T364I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.308 - - 3 - 1 N - - RDH8 Val188Met V188M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - RELN Gly1280Glu G1280E benign Low clinical importance, Uncertain benign unknown Array rs55689103 121 10758 0.0112474 2 0 2 1 1 0 Y - - 1 Y - - - - - - - - - - 0.936 - - 6 Y 3 - 2 0 0 Probably benign. REV3L Glu215Lys E215K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.557 - - 0 - 1 N - - REXO4 Ser111Leu S111L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - RFESD Asp91Ala D91A not reviewed Insufficiently evaluated not reviewed unknown Array 578 10756 0.0537374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RFESD Asp38Ala D38A not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.19 - - 5 Y 0 N - - RFX6 Thr867Ser T867S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.73 - - -2 - 1 N - - RGL1 Val30Gly V30G not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RGL1 Ser217Cys S217C not reviewed Insufficiently evaluated not reviewed unknown Array rs12140352 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 1 - - RGL4 Asp358Val D358V not reviewed Insufficiently evaluated not reviewed unknown Array rs8137247 135 10758 0.0125488 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.948 - - 8 Y 3 - 2 - - RGS5 Asn41His N41H not reviewed Insufficiently evaluated not reviewed unknown Array rs35968905 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 1 N - - RGS7BP Arg11Pro R11P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - RGS9 Ser529Ile S529I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RGS9 Ser532Ile S532I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RHO Gly51Ala G51A pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 25 10758 0.00232385 2 1 2 3 3 2 Y 1 Y 0 Y 0 Y 3 - 3 Y Y - - - 0.863 Y - 1 - 4 Y 1 0 Implicated in autosomal dominant retinitis pigmentosa, but published observations lack statistical significance. Other variants at this position have strong evidence, but this variant had less severe consequences in functional studies. Also contradicting a pathogenic hypothesis is the fact that it has been seen in a presumed-healthy PGP individual (African American) and in one other presumed-healthy public genome (Nigerian). RHOBTB1 Asn454Ile N454I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RICS Ser902Phe S902F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RICS Ser1251Phe S1251F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RICS Ser840Ile S840I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RICS Ser491Ile S491I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RIF1 Pro567Ala P567A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10728 9.3214e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.505 - - 2 - 1 N - - RIF1 Met850Val M850V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750444 267 10756 0.0248234 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RIMS2 Pro242Ser P242S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMS2 Pro434Ser P434S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMS2 Arg1056Ser R1056S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMS2 Arg870Ser R870S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMS3 Gly234Ser G234S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - RINT1 Arg616Lys R616K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - RMND1 Glu286Asp E286D not reviewed Insufficiently evaluated not reviewed unknown Array rs35188477 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - RNASE8 Gln41Leu Q41L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RNASE9 Cys123Arg C123R not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RNASE9 Cys128Arg C128R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNASE9 Arg102Cys R102C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNASE9 Arg97Cys R97C not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - RNASE9 Tyr94Cys Y94C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 6 Y 2 N - - RNASE9 Tyr99Cys Y99C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNASE9 Lys50Gln K50Q not reviewed Insufficiently evaluated not reviewed unknown Array 248 10758 0.0230526 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNASE9 Lys55Gln K55Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF133 His290Arg H290R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - RNF146 Cys24Arg C24R not reviewed Insufficiently evaluated not reviewed unknown Array rs10081141 58 10758 0.00539134 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - RNF146 Ser202Gly S202G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF168 Lys387Arg K387R not reviewed Insufficiently evaluated not reviewed unknown Array rs35774921 199 10758 0.0184979 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.117 - - -3 - 1 - 2 - - RNF186 Arg179Stop R179X not reviewed Insufficiently evaluated not reviewed unknown Array rs36095412 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RNF41 Met177Ile M177I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - RNF41 Met106Ile M106I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNPEP Lys260Asn K260N not reviewed Insufficiently evaluated not reviewed unknown Array rs74710742 131 10758 0.012177 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - ROCK1 Lys1139Glu K1139E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - ROS1 Asp1776His D1776H not reviewed Insufficiently evaluated not reviewed unknown Array rs12664076 198 10754 0.0184118 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 3 - 4 - - ROS1 Ser653Phe S653F not reviewed Insufficiently evaluated not reviewed unknown Array rs34203286 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 3 - 2 - - RP1 Val945Leu V945L not reviewed Insufficiently evaluated not reviewed unknown Array rs16920621 71 10756 0.00660097 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - RP1 Cys1223Stop C1223X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - RP1 Ser1548Arg S1548R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10752 0.00232515 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - RP1 Asn1760Lys N1760K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 1 - 3 N - - RP1L1 Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array 34 9952 0.0034164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPAP2 Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array 161 10752 0.014974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - RPL18 Ala80Val A80V not reviewed Insufficiently evaluated not reviewed unknown Array rs11554936 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 2 - 1 - 1 - - RPN2 Ala214Gly A214G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - RPN2 Ala182Gly A182G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPN2 Asp281Asn D281N not reviewed Insufficiently evaluated not reviewed unknown Array rs34488353 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - -1 - 0 N - - RPN2 Asp249Asn D249N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPP38 Phe236Ser F236S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 5 Y 0 N - - RPP40 His205Asp H205D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPS6KB1 Pro314His P314H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - RPS6KC1 Pro319Leu P319L not reviewed Insufficiently evaluated not reviewed unknown Array rs56369827 103 10758 0.00957427 4 0 4 0 0 0 Y - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 2 - - RPS6KC1 Pro307Leu P307L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - RRAGC Asp103His D103H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RREB1 Thr155Pro T155P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RRP1 Arg323His R323H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10246 0.00146398 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - RRP15 Lys149Asn K149N not reviewed Insufficiently evaluated not reviewed unknown Array rs11118075 319 10758 0.0296524 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 3 - 2 - - RRP1B Leu371Val L371V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - RSBN1 Gln769Stop Q769X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RSPH4A Arg244His R244H not reviewed Insufficiently evaluated not reviewed unknown Array rs41289942 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 1 - 3 N - - RTF1 Leu228Gln L228Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RTN1 Ile306Leu I306L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RTN3 Ser264Stop S264X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RTTN Ile641Val I641V not reviewed Insufficiently evaluated not reviewed unknown Array 70 9774 0.00716186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - RUFY3 Lys361Glu K361E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - RUFY3 Lys421Glu K421E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RYR1 Gly893Ser G893S benign Low clinical importance, Uncertain benign unknown Array 14 10756 0.0013016 1 0 1 1 1 ! Y - - 0 Y - - - - - - Y - - - 0.997 Y Y 2 - 4 N 0 0 Rare, tentatively evaluated as benign. Some recessive missense variants in this gene are reported to cause malignant hyperthermia and central core disease, but this variant occurs outside of the amino acid regions where these pathogenic variants typically occur. RYR1 Val2073Gly V2073G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.745 Y Y 8 Y 3 N - - S100A5 Tyr37Phe Y37F not reviewed Insufficiently evaluated not reviewed unknown Array rs2230870 276 10758 0.0256553 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 2 - - S100B Val9Ala V9A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - S100PBP Pro127Ser P127S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SAA1 Pro115Leu P115L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SACS Asn1489Ser N1489S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 0 - 2 N - - SAGE1 Asn741Lys N741K not reviewed Insufficiently evaluated not reviewed unknown Array rs35470903 350 8761 0.0399498 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 3 - 2 - - SALL1 Asn1291Ser N1291S not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SALL1 Asn1194Ser N1194S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SAMHD1 Ser84Pro S84P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.144 - - 3 - 0 N - - SAMM50 Gln451Arg Q451R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAPS2 Pro667Leu P667L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SASH1 Asn677Lys N677K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - SASH1 Glu846Asp E846D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCAND3 Thr573Ser T573S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.852 - - -2 - 2 N - - SCAND3 Glu114Lys E114K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SCG3 Lys154Glu K154E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.795 Y - 0 - 2 N - - SCN10A Phe1528Ile F1528I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCN11A Lys419Asn K419N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 1 - 2 N - - SCN2A Val1086Ala V1086A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - SCN3A Ala488Gly A488G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.403 - - 1 - 1 N - - SCNN1D Glu174Gly E174G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCNN1D Glu108Gly E108G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - SCUBE2 Thr285Met T285M not reviewed Insufficiently evaluated not reviewed unknown Array rs72547298 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SCUBE3 Arg434Gln R434Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.643 - - 0 - 1 N - - SDCCAG8 Asp501His D501H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SDK1 Thr1027Met T1027M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735696 173 10758 0.0160811 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - SDR16C5 Glu252Ala E252A not reviewed Insufficiently evaluated not reviewed unknown Array 86 10752 0.00799851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - SDS Lys21Thr K21T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SEC14L4 Glu211Asp E211D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744139 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - -2 - 2 N - - SEC23B Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array rs17807673 1149 10758 0.106804 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.686 - - 7 Y 0 N - - SEC23IP Val311Ile V311I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - SEC23IP Arg800Gln R800Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SEC31B Arg800Gly R800G not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.261 - - 6 Y 1 N - - SEC31B Leu97Arg L97R not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.918 - - 6 Y 2 N - - SEMA4G Thr243Ala T243A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA5B Arg581Cys R581C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SEPSECS Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPSECS Ala386Thr A386T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEPSECS Ala308Thr A308T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERINC3 Val458Ile V458I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - SERPINA11 Leu160Phe L160F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINA12 Leu203Pro L203P not reviewed Insufficiently evaluated not reviewed unknown Array rs61758960 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - SERPINB10 Asn371Ser N371S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINB2 Gly374Ala G374A not reviewed Insufficiently evaluated not reviewed unknown Array rs34066931 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 1 - 3 - 3 - - SERPINB3 Asn148Ser N148S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SERPINF1 Ile301Val I301V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SESN2 Arg36Trp R36W not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.465 - - 7 Y 1 N - - SESN2 Arg419Trp R419W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SETD2 Leu2209Phe L2209F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - SETDB1 Asp131His D131H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFRS12 Arg254His R254H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFRS12 Arg370His R370H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFRS14 Met640Val M640V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFRS2IP Val1235Asp V1235D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SGSH Val387Met V387M not reviewed Insufficiently evaluated not reviewed unknown Array rs62620232 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - 0 - 1 N - - SGSM3 Trp20Arg W20R not reviewed Insufficiently evaluated not reviewed unknown Array rs9611338 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 3 - 2 - - SH2D2A Asn277Asp N277D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - SH2D3C His169Tyr H169Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH3RF1 Gly348Glu G348E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - SHC3 Ser505Ile S505I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SHISA4 Glu72Lys E72K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - SHPRH Phe592Cys F592C not reviewed Insufficiently evaluated not reviewed unknown Array 406 9822 0.0413358 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SHROOM3 Arg352Gln R352Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHROOM4 Ile1018Val I1018V not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIAE Ala416Asp A416D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIGIRR Asp386Asn D386N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 3 - 1 - - SIGLEC1 Arg464His R464H not reviewed Insufficiently evaluated not reviewed unknown Array rs34924243 552 10758 0.0513107 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 - 3 - - SIGLEC12 Ser107Arg S107R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.904 - - 3 - 3 - 1 - - SIGLEC7 Ser109Arg S109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SIK1 Asn228Thr N228T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - SIL1 Val332Met V332M benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.924 Y Y 0 - 4 N 0 0 Tentatively evaluated as benign. Polyphen 2 predicts damaging effect, and other recessive variants in this gene are reported to cause Marinesco-Sjogren syndrome, but these are almost all more severe (nonsense or frameshift). SIM2 Ser199Ala S199A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - -1 - 0 N - - SIPA1L2 Arg1708Gln R1708Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34461614 28 10336 0.00270898 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - SIRPB1 Arg53His R53H not reviewed Insufficiently evaluated not reviewed unknown Array rs2746603 795 10626 0.0748165 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 6 - - SIRPG Leu142Ser L142S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIRT5 His287Leu H287L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLAMF8 Val129Met V129M not reviewed Insufficiently evaluated not reviewed unknown Array rs3795331 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 1 - 4 - - SLC10A2 Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array rs55971546 319 10758 0.0296524 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.037 - - -4 - 1 - 10 - - SLC10A6 Ser6Phe S6F not reviewed Insufficiently evaluated not reviewed unknown Array rs17694522 431 10758 0.0400632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 3 - - SLC11A1 Arg108Gln R108Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - SLC11A1 Pro169Ser P169S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - SLC11A2 Ser66Asn S66N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SLC12A6 Phe720Ser F720S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SLC12A6 Phe728Ser F728S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SLC12A6 Phe764Ser F764S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SLC12A6 Phe770Ser F770S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SLC12A6 Phe779Ser F779S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 5 Y 4 N - - SLC12A6 Arg32Trp R32W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SLC12A7 Trp616Arg W616R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC15A2 Ala578Val A578V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SLC15A2 Ala609Val A609V not reviewed Insufficiently evaluated not reviewed unknown Array rs1143668 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - SLC15A4 Ala206Ser A206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SLC16A10 Ser380Arg S380R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC16A7 Ser219Ile S219I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC17A6 Ser574Arg S574R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A1 Ser291Pro S291P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - SLC22A11 Ile443Leu I443L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - SLC22A16 Leu555Pro L555P not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A2 Ile552Asn I552N not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - SLC24A2 Asp456Ala D456A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.906 - - 5 Y 2 N - - SLC25A30 Val223Ile V223I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - -4 - 1 N - - SLC25A32 Gly77Arg G77R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SLC25A35 Ser121Ile S121I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - SLC26A2 Ala494Ser A494S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SLC26A4 Phe261Val F261V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - SLC26A4 Phe261Tyr F261Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y -4 - 4 N - - SLC26A4 Ile300Leu I300L pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 38 10756 0.00353291 1 0 1 0 0 2 Y - - 0 Y - - 3 - 1 - Y - - - 0.988 Y Y -2 - 5 Y 1 0 If homozygous, this disruptive variant may be a recessive cause of Pendred Syndrome (congenital deafness). SLC26A9 Arg575Gln R575Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC26A9 Arg243Gln R243Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - SLC2A9 Val266Met V266M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A9 Val295Met V295M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - SLC30A5 Ser554Gly S554G not reviewed Insufficiently evaluated not reviewed unknown Array rs35242104 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SLC30A5 Phe619Ile F619I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - SLC33A1 Ala131Pro A131P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - SLC35A3 Met177Ile M177I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC35D3 Gln317His Q317H not reviewed Insufficiently evaluated not reviewed unknown Array 226 10758 0.0210076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - -1 - 1 - 3 - - SLC35D3 Glu321Lys E321K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - SLC36A3 Arg231His R231H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - SLC36A3 Arg190His R190H not reviewed Insufficiently evaluated not reviewed unknown Array rs17660042 345 10758 0.0320692 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.371 - - 1 - 2 - 2 - - SLC37A3 Cys467Gly C467G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.605 - - 7 Y 1 N - - SLC37A3 Leu366Trp L366W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.83 - - 5 Y 1 N - - SLC38A6 Trp367Ser W367S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - SLC39A10 Thr87Ser T87S not reviewed Insufficiently evaluated not reviewed unknown Array rs13419724 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.101 - - -2 - 1 - 2 - - SLC39A12 Asn396Ile N396I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 7 Y 0 N - - SLC39A6 Ser145Phe S145F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC39A6 Ser420Phe S420F not reviewed Insufficiently evaluated not reviewed unknown Array 9 9666 0.000931098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 5 Y 2 N - - SLC3A2 Arg634His R634H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC3A2 Arg604His R604H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC3A2 Arg603His R603H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SLC3A2 Arg502His R502H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC3A2 Arg572His R572H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC3A2 Arg541His R541H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC40A1 Asn497Ile N497I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - SLC41A3 Val44Met V44M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC45A2 Thr403Ala T403A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 1 - 2 N - - SLC45A2 Cys321Arg C321R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - SLC4A5 Asn827Ile N827I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 7 Y 2 N - - SLC5A1 Ala411Thr A411T not reviewed Insufficiently evaluated not reviewed unknown Array rs17683430 555 10758 0.0515895 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 5 - - SLC5A1 His615Gln H615Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33954001 554 10758 0.0514966 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 - 3 - - SLC5A12 Cys340Phe C340F not reviewed Insufficiently evaluated not reviewed unknown Array 555 10758 0.0515895 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 1 N - - SLC5A6 Ser492Asn S492N not reviewed Insufficiently evaluated not reviewed unknown Array rs1064845 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 2 - 7 - - SLC5A9 Ala625Val A625V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC5A9 Ala600Val A600V not reviewed Insufficiently evaluated not reviewed unknown Array 699 10758 0.0649749 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - SLC6A11 Phe129Leu F129L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 1 N - - SLC6A13 Asp478Asn D478N not reviewed Insufficiently evaluated not reviewed unknown Array 47 10754 0.00437047 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC7A13 Glu117Gly E117G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.069 - - 6 Y 1 - 1 - - SLC7A6 Val306Gly V306G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SLC9A10 Phe986Leu F986L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SLC9A10 Thr819Lys T819K not reviewed Insufficiently evaluated not reviewed unknown Array 342 10750 0.031814 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLCO1A2 Gly243Ser G243S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 2 N - - SLCO1B3 Val560Ala V560A not reviewed Insufficiently evaluated not reviewed unknown Array rs12299012 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 1 - 8 - - SLCO5A1 Arg375Gln R375Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - SLFN11 Val881Ile V881I not reviewed Insufficiently evaluated not reviewed unknown Array rs62079540 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLFN5 Val277Ile V277I not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - SLFNL1 Pro162Thr P162T not reviewed Insufficiently evaluated not reviewed unknown Array rs34386830 159 10202 0.0155852 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.07 - - 4 Y 0 N - - SLIT2 Arg680Gly R680G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SLK Thr1095Pro T1095P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 4 Y 2 N - - SMAD1 Ser352Arg S352R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.919 Y Y 3 - 4 N - - SMARCA1 Gly825Ala G825A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMARCA1 Gly837Ala G837A not reviewed Insufficiently evaluated not reviewed unknown Array rs34182579 94 8761 0.0107294 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMARCA2 Arg1549Trp R1549W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMARCA2 Arg1531Trp R1531W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMC1B Phe1055Leu F1055L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735519 419 9644 0.0434467 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMNDC1 Gly207Asp G207D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 4 Y 2 N - - SMPDL3A Glu234Asp E234D not reviewed Insufficiently evaluated not reviewed unknown Array rs62623431 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.18 - - -2 - 0 N - - SMPDL3B Asp289His D289H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - SMTN Thr210Pro T210P not reviewed Insufficiently evaluated not reviewed unknown Array 1044 10758 0.0970441 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SMYD1 Leu236Ile L236I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.113 - - -2 - 0 N - - SMYD4 His511Arg H511R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753098 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.222 - - 1 - 1 N - - SNIP1 Leu370Ile L370I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.251 - - -2 - 1 N - - SNRNP200 Gly1978Ala G1978A not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y - 1 - 1 N - - SNRNP200 Met387Val M387V not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SNRNP27 Glu99Gly E99G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SNTN Lys52Arg K52R not reviewed Insufficiently evaluated not reviewed unknown Array rs73111385 311 10758 0.0289087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.144 - - -3 - 0 N - - SOBP Thr107Ala T107A not reviewed Insufficiently evaluated not reviewed unknown Array 82 9802 0.00836564 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SOBP Asn256Asp N256D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SOCS7 Lys572Arg K572R not reviewed Insufficiently evaluated not reviewed unknown Array rs55687042 344 10758 0.0319762 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - SON Ala994Gly A994G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - SORBS1 Thr224Ala T224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS1 Thr265Ala T265A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS1 Thr319Ala T319A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SORBS1 Thr356Ala T356A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORBS1 Thr388Ala T388A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORT1 Cys783Trp C783W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - SOS1 Asn1011Ser N1011S not reviewed Insufficiently evaluated not reviewed unknown Array rs8192671 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 0 - 3 - 3 - - SOS2 Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array rs61755579 220 10758 0.0204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 1 - - SOS2 Pro191Arg P191R not reviewed Insufficiently evaluated not reviewed unknown Array rs72681869 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SP3 Ser345Gly S345G not reviewed Insufficiently evaluated not reviewed unknown Array rs61755318 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SP3 Ser277Gly S277G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPACA3 Arg63Trp R63W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SPAG17 Ala316Asp A316D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.949 - - 5 Y 2 N - - SPAM1 Asp451Val D451V not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.704 - - 8 Y 1 N - - SPATA12 Pro127Ser P127S not reviewed Insufficiently evaluated not reviewed unknown Array 299 10758 0.0277933 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.402 - - 3 - 1 N - - SPATA16 Met526Thr M526T not reviewed Insufficiently evaluated not reviewed unknown Array rs62622782 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 1 - - SPATA16 Ala509Val A509V not reviewed Insufficiently evaluated not reviewed unknown Array 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 1 - 1 - - SPATA16 Arg336Gly R336G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.149 - - 6 Y 0 N - - SPATA18 Thr488Ile T488I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - SPATA5 Glu640Asp E640D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPEF2 Arg794His R794H not reviewed Insufficiently evaluated not reviewed unknown Array 4 9548 0.000418935 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - SPEN Asp2007Glu D2007E not reviewed Insufficiently evaluated not reviewed unknown Array rs61749275 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - -2 - 2 N - - SPEN Val2023Met V2023M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - SPG11 Lys1273Arg K1273R not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SPHKAP Val663Ile V663I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPINK5 Gly655Asp G655D not reviewed Insufficiently evaluated not reviewed unknown Array 26 9824 0.00264658 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - SPINK5 His972Arg H972R not reviewed Insufficiently evaluated not reviewed unknown Array rs17705005 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 3 - 1 - - SPINK5 His1002Arg H1002R not reviewed Insufficiently evaluated not reviewed unknown Array 214 9460 0.0226216 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SPN Ser41Ile S41I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 5 Y 1 - 8 - - SPOCK2 Thr184Met T184M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - SPRR3 Glu39Asp E39D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.481 - - -2 - 1 N - - SPTA1 Ala2239Asp A2239D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPTA1 Ala2012Asp A2012D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPTA1 Arg568His R568H not reviewed Insufficiently evaluated not reviewed unknown Array 14 9910 0.00141271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTAN1 His614Asp H614D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - SPTBN1 Val5Leu V5L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.767 - - 0 - 1 N - - SPTBN1 Val1908Gly V1908G not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.756 - - 8 Y 1 N - - SPTBN1 Val1895Gly V1895G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPTLC3 Ala496Thr A496T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738161 255 9544 0.0267184 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SRBD1 Pro822Ala P822A not reviewed Insufficiently evaluated not reviewed unknown Array rs34959371 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SRBD1 Pro155Arg P155R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - SRCRB4D Leu442Phe L442F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10506 0.00123739 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - SRFBP1 Val419Leu V419L not reviewed Insufficiently evaluated not reviewed unknown Array 45 9532 0.00472094 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SRGAP3 His665Asp H665D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 1 N - - SRGAP3 His689Asp H689D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.882 - - 3 - 2 N - - SRPK2 Glu369Asp E369D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SRPK2 Glu380Asp E380D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SRPRB Trp266Arg W266R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SRPX Asp42Asn D42N not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 2 - 2 - - SRRM2 Ser883Cys S883C not reviewed Insufficiently evaluated not reviewed unknown Array rs17136053 317 10758 0.0294664 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 1 - 5 - - SRRM2 Asp1141Glu D1141E not reviewed Insufficiently evaluated not reviewed unknown Array rs72768766 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SSH2 Pro825Ser P825S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - SSRP1 Arg27His R27H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230649 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - 1 - 1 N - - SSX1 Phe101Cys F101C not reviewed Insufficiently evaluated not reviewed unknown Array 356 8760 0.0406393 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - ST13 Ala121Gly A121G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.314 - - 1 - 1 N - - STAB1 Asp467Ala D467A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STAB2 Leu661Pro L661P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - STAB2 Ala1665Thr A1665T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - STAG3L4 Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - STAM2 Glu349Val E349V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - STAMBPL1 Glu204Lys E204K not reviewed Insufficiently evaluated not reviewed unknown Array rs34270879 333 10758 0.0309537 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 3 - 3 - - STAT2 Gly825Cys G825C not reviewed Insufficiently evaluated not reviewed unknown Array rs61754170 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 2 - - STEAP3 Val91Gly V91G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.888 - - 8 Y 2 N - - STEAP3 Val101Gly V101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STK24 Tyr97Cys Y97C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - STK24 Tyr85Cys Y85C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STK31 Arg385Cys R385C not reviewed Insufficiently evaluated not reviewed unknown Array rs35995607 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 8 Y 3 - 3 - - STK31 Arg362Cys R362C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 4 - - STON1 Gly560Cys G560C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STON1-GTF2A1L Gly560Cys G560C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STRBP Val595Ile V595I not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - STT3A Val689Gly V689G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - STX17 Ile23Thr I23T not reviewed Insufficiently evaluated not reviewed unknown Array rs41305451 686 10756 0.0637784 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - STX19 Ala38Gly A38G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739250 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - 1 - 2 N - - STX2 Phe32Val F32V not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.829 - - 3 - 1 N - - STX5 Arg333Trp R333W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SULT1A2 Tyr62Phe Y62F not reviewed Insufficiently evaluated not reviewed unknown Array rs4987024 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 2 - 9 - - SUPT6H Lys732Glu K732E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - SUPT6H Ala1464Gly A1464G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - SUSD1 Thr350Ile T350I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SV2B Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVIL Val1326Ile V1326I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SVIL Val1752Ile V1752I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737920 732 10758 0.0680424 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SVIL Pro1222Leu P1222L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SVIL Pro1648Leu P1648L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 7 Y 2 N - - SVIL Ala1131Pro A1131P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVIL Ala1557Pro A1557P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SVIL Val1352Ile V1352I not reviewed Insufficiently evaluated not reviewed unknown Array 327 10758 0.030396 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - -4 - 1 N - - SVIL Val926Ile V926I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SWAP70 Glu470Asp E470D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SYCE1 Leu73Arg L73R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYCE1 Leu109Arg L109R not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.761 - - 6 Y 1 N - - SYCE2 Leu129Ile L129I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.813 - - -2 - 1 N - - SYCE2 His89Tyr H89Y not reviewed Insufficiently evaluated not reviewed unknown Array 31 10208 0.00303683 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - SYCP1 Ile806Val I806V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYCP1 Asn918His N918H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730058 293 10714 0.0273474 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYCP2 Met1003Thr M1003T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733222 242 10740 0.0225326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYCP2 Thr751Ile T751I not reviewed Insufficiently evaluated not reviewed unknown Array rs6071006 237 10756 0.0220342 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 3 - 2 - - SYNE1 Val130Leu V130L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Val5535Leu V5535L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SYNE1 Val5606Leu V5606L benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.956 Y Y 0 - 4 N 0 0 Tentatively classified as benign, although Polyphen 2 predicts a damaging effect. Other recessive variants in this gene are reported to cause Emery-Dreifuss muscular dystrophy or spinocerebellar ataxia, but these are generally more severe and/or far earlier in the peptide sequence. SYNE1 Gln1709Lys Q1709K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.168 Y Y -2 - 2 N - - SYNE1 Gln1716Lys Q1716K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SYNE1 Ala937Ser A937S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.293 Y Y -1 - 3 N - - SYNE1 Ala944Ser A944S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SYNE2 Arg968His R968H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9488 0.000210792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - SYNE2 Asp5547Asn D5547N not reviewed Insufficiently evaluated not reviewed unknown Array rs17179194 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 2 - 1 - - SYNJ2 Gly1037Arg G1037R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743913 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - SYNPO2 Lys957Arg K957R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.889 - - -3 - 2 N - - SYPL2 Tyr91Phe Y91F not reviewed Insufficiently evaluated not reviewed unknown Array 289 10156 0.0284561 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.509 - - -4 - 1 N - - SYPL2 Arg148Cys R148C not reviewed Insufficiently evaluated not reviewed unknown Array 263 10042 0.02619 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SYT1 Val420Ile V420I not reviewed Insufficiently evaluated not reviewed unknown Array rs61756211 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - SYT7 Met250Ile M250I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SYTL2 Ser335Cys S335C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAAR6 Gly165Ser G165S not reviewed Insufficiently evaluated not reviewed unknown Array rs17061401 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 2 - 0 N - - TACC2 Ala686Thr A686T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - TAF12 Thr145Ser T145S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - -2 - 2 N - - TAF1B Ser323Asn S323N not reviewed Insufficiently evaluated not reviewed unknown Array rs61743065 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 1 - - TAF1C Arg722His R722H not reviewed Insufficiently evaluated not reviewed unknown Array rs4150176 510 10752 0.047433 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TAF1C Arg816His R816H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.479 - - 1 - 2 - 3 - - TANK Arg394Gly R394G not reviewed Insufficiently evaluated not reviewed unknown Array rs56075631 45 10758 0.00418293 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - TARBP1 Gly655Arg G655R not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - TARSL2 Trp206Stop W206X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TAS1R2 Asp433Asn D433N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - TAS2R19 Ile225Val I225V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 0 N - - TAS2R19 Ser101Asn S101N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TATDN2 Trp441Stop W441X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TBC1D14 Ser206Ile S206I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - TBC1D17 Trp439Stop W439X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TBC1D22A Arg246Ser R246S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 3 - 1 - - TBC1D23 Cys31Ser C31S not reviewed Insufficiently evaluated not reviewed unknown Array rs62636640 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.458 - - 3 - 1 N - - TBC1D29 Ile148Val I148V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBC1D2B Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732053 329 10756 0.0305876 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - TBC1D4 Thr1147Met T1147M not reviewed Insufficiently evaluated not reviewed unknown Array rs9600455 850 9478 0.0896814 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 1 - 3 - - TBC1D4 Glu423Lys E423K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TBC1D5 Ser754Thr S754T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBC1D5 Ser732Thr S732T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBC1D8B Glu516Gly E516G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 6 Y 1 N - - TBC1D9B Val826Ala V826A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - TBK1 Tyr564His Y564H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBX20 Asp151Glu D151E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TC2N Lys151Met K151M not reviewed Insufficiently evaluated not reviewed unknown Array rs2402073 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 2 - - TCF19 Pro241Leu P241L not reviewed Insufficiently evaluated not reviewed unknown Array rs2073724 488 6698 0.0728576 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.834 - - 7 Y 0 N - - TCF20 Asn1516Ile N1516I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.133 - - 7 Y 0 N - - TCF20 Glu697Asp E697D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - TCF20 Met405Val M405V not reviewed Insufficiently evaluated not reviewed unknown Array rs34030679 1174 10758 0.109128 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 - 3 - - TCHH Arg1444Stop R1444X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCN1 Phe157Ile F157I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 2 - 2 N - - TCTE1 Arg133Cys R133C not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TCTE3 Ile67Val I67V not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TCTN1 Thr371Pro T371P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - TCTN1 Thr357Pro T357P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TCTN2 Cys648Tyr C648Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TCTN2 Cys647Tyr C647Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TDRD3 Arg599Gln R599Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TDRD3 Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TDRD9 Arg641Gln R641Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 0 - 0 N - - TDRD9 Val1068Ile V1068I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TDRKH Gly332Ser G332S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TDRKH Gly377Ser G377S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9808 0.000203915 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 2 - 1 N - - TDRKH Gly257Ala G257A not reviewed Insufficiently evaluated not reviewed unknown Array rs17853082 279 9926 0.028108 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 3 - 2 - - TDRKH Gly212Ala G212A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 2 - - TEAD4 Pro323Ser P323S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - TEAD4 Pro280Ser P280S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - TEAD4 Pro194Ser P194S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - TECPR2 Pro439Ser P439S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273906 376 10336 0.0363777 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 1 - 2 - - TEDDM1 Leu54Pro L54P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - TEK Lys294Glu K294E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TEKT1 Val332Leu V332L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - TEKT1 Asn233Ile N233I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - TEKT4 Asn409Lys N409K not reviewed Insufficiently evaluated not reviewed unknown Array rs17120062 281 10756 0.026125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 3 - 2 - - TERF2 Leu377Val L377V not reviewed Insufficiently evaluated not reviewed unknown Array rs13337258 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 1 - 1 - - TET2 Gly355Asp G355D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744960 313 10758 0.0290946 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.687 - - 4 Y 1 N - - TET2 Pro363Leu P363L not reviewed Insufficiently evaluated not reviewed unknown Array rs17253672 441 10758 0.0409927 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.917 - - 7 Y 3 - 2 - - TEX15 Thr2654Ser T2654S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TEX264 Val34Gly V34G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - TFAP2B Val224Ile V224I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 - Y -4 - 1 N - - TFB1M Ala185Pro A185P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - TFEC Gln6His Q6H not reviewed Insufficiently evaluated not reviewed unknown Array rs35695387 232 10758 0.0215653 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.683 - - -1 - 2 - 10 - - TG Arg988His R988H not reviewed Insufficiently evaluated not reviewed unknown Array rs16893332 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.178 Y - 1 - 1 N - - TG Ile1708Val I1708V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744679 323 10758 0.0300242 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - TGFBR3 His155Arg H155R not reviewed Insufficiently evaluated not reviewed unknown Array rs41286789 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - TGM3 Ala673Val A673V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TGM5 Asn633Thr N633T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 2 N - - TGM5 Asn551Thr N551T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - THBS1 Ala195Thr A195T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - THOC7 Arg113Stop R113X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TIAM2 Arg973Trp R973W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 2 N - - TIFAB Glu61Asp E61D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - TIGD4 Ala355Pro A355P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - TIGD6 Glu60Stop E60X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TIGD7 Trp265Stop W265X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TIMELESS Gly1193Glu G1193E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIMM44 Asn251Lys N251K not reviewed Insufficiently evaluated not reviewed unknown Array rs118048213 315 10758 0.0292805 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.3 - - 1 - 1 N - - TIMM44 Lys68Arg K68R not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - TIMM44 Ser26Pro S26P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIMP1 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TJP1 Asp1598Asn D1598N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TJP1 Asp1678Asn D1678N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.886 - - -1 - 2 N - - TJP1 Arg1003Cys R1003C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 2 - 1 - - TJP1 Arg1083Cys R1083C not reviewed Insufficiently evaluated not reviewed unknown Array rs35392254 23 10314 0.00222998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 3 - 1 - - TK2 Pro33Ala P33A not reviewed Insufficiently evaluated not reviewed unknown Array rs3743715 361 10582 0.0341145 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 3 - 5 - - TLCD1 Asn128Ile N128I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLCD1 Asn175Ile N175I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TLL1 Arg583Gly R583G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - TLN1 Leu391His L391H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.165 - - 6 Y 0 N - - TLN2 Arg613Thr R613T not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLN2 Arg2239His R2239H not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TLR10 Leu696Phe L696F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 3 - 1 - - TLR10 Val567Asp V567D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.669 - - 8 Y 1 N - - TLR10 Gln370Stop Q370X not reviewed Insufficiently evaluated not reviewed unknown Array rs62617795 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TLR2 Leu410Ile L410I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TM6SF1 Leu48Arg L48R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.753 - - 6 Y 1 N - - TM6SF1 Pro59Ser P59S not reviewed Insufficiently evaluated not reviewed unknown Array rs1989 775 10758 0.0720394 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 - 3 - - TM7SF4 Pro432Leu P432L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.571 - - 7 Y 1 N - - TM9SF1 Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TMC2 Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 1 - 1 N - - TMC4 Lys471Ile K471I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC4 Lys465Ile K465I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC6 Ser575Pro S575P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - TMCC3 Asn101Ile N101I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.727 - - 7 Y 1 N - - TMEM106C Thr62Ala T62A not reviewed Insufficiently evaluated not reviewed unknown Array rs35299693 200 10758 0.0185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - TMEM123 Ala158Thr A158T not reviewed Insufficiently evaluated not reviewed unknown Array rs12288849 49 9446 0.00518738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 1 - 2 - - TMEM126A Ser52Gly S52G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - 2 - 0 N - - TMEM132A Arg278Gln R278Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61751216 307 10746 0.0285688 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TMEM132E Val532Gly V532G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - TMEM138 Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TMEM140 Lys181Arg K181R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMEM141 Arg54Ser R54S not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - TMEM144 Pro262His P262H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TMEM170B Ile123Thr I123T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - TMEM175 Cys230Gly C230G not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMEM192 Ala174Thr A174T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - TMEM194A Lys75Gln K75Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744355 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM195 Gly144Arg G144R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 6 Y 0 N - - TMEM2 Gly477Asp G477D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM2 Gly540Asp G540D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - TMEM204 Trp167Stop W167X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TMEM38B Val267Ile V267I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - TMEM44 Pro147Leu P147L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10728 0.000279642 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - TMEM48 Ala658Val A658V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM63B Thr388Pro T388P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM70 Leu94Pro L94P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - TMEM70 Val194Leu V194L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMPRSS11F Ser318Phe S318F not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 5 Y 1 N - - TMPRSS3 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array rs45598239 377 10758 0.0350437 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.957 Y - 1 - 3 N - - TMX2 Gly56Arg G56R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TNC Arg1118Gln R1118Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61738263 172 10758 0.0159881 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNC Asp736Gly D736G not reviewed Insufficiently evaluated not reviewed unknown Array rs61735551 217 10758 0.020171 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 - 1 - - TNFAIP1 Tyr131Ser Y131S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - TNFRSF19 Ala159Val A159V not reviewed Insufficiently evaluated not reviewed unknown Array rs61756242 203 10758 0.0188697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - TNFSF12-TNFSF13 Glu271Asp E271D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNFSF13 Glu191Asp E191D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNFSF13 Glu175Asp E175D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNRC6A Val615Ile V615I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - TNS1 Asp441Glu D441E not reviewed Insufficiently evaluated not reviewed unknown Array rs61740205 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNS1 Ile311Met I311M not reviewed Insufficiently evaluated not reviewed unknown Array rs11680854 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - TNS1 Leu56Arg L56R not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNS3 Ser976Pro S976P not reviewed Insufficiently evaluated not reviewed unknown Array rs61731305 90 10144 0.00887224 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNS4 His161Asn H161N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOB1 Glu69Asp E69D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.211 - - -2 - 1 N - - TOE1 Arg341His R341H not reviewed Insufficiently evaluated not reviewed unknown Array rs9429157 264 10758 0.0245399 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TOPORS Thr648Ser T648S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TOPORS Thr491Ile T491I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TOPORS Pro20Ser P20S not reviewed Insufficiently evaluated not reviewed unknown Array 185 10718 0.0172607 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TP53BP2 Gln229Lys Q229K benign Insufficiently evaluated benign dominant Array rs34683843 669 10758 0.0621863 9 0 10 0 0 0 Y - - - - - - - - - - - - - - - - - -2 - 0 N - - High frequency of this variant in the PGP and computational scores indicate that this is likely a benign variant. TP53BP2 Gln100Lys Q100K not reviewed Insufficiently evaluated not reviewed unknown Array rs34683843 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TP53INP1 Cys75Arg C75R not reviewed Insufficiently evaluated not reviewed unknown Array rs11991800 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.825 - - 8 Y 2 - 2 - - TPM1 Ala210Gly A210G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TPMT Arg163Cys R163C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TPR Thr1707Ala T1707A not reviewed Insufficiently evaluated not reviewed unknown Array rs35766045 66 9778 0.00674985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - TPST1 Glu240Asp E240D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - TRAPPC9 Gly1031Ser G1031S not reviewed Insufficiently evaluated not reviewed unknown Array 51 9350 0.00545454 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRAPPC9 Gly933Ser G933S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRHDE Arg707Trp R707W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - TRIM23 Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TRIM45 Gly418Glu G418E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM45 Gly436Glu G436E not reviewed Insufficiently evaluated not reviewed unknown Array rs61758105 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - TRIM48 Glu165Gly E165G not reviewed Insufficiently evaluated not reviewed unknown Array 402 10658 0.0377181 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM48 Arg193Trp R193W not reviewed Insufficiently evaluated not reviewed unknown Array 28 10680 0.00262172 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM69 Ile399Phe I399F not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 2 - 2 N - - TRIM69 Ile240Phe I240F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIML1 Ser254Arg S254R not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - TRO Pro483Leu P483L not reviewed Insufficiently evaluated not reviewed unknown Array rs45448595 579 8566 0.0675928 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TROAP Ala169Val A169V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPA1 Asn373Ile N373I not reviewed Insufficiently evaluated not reviewed unknown Array 67 10740 0.00623836 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPC4AP Leu514Ile L514I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - -2 - 1 N - - TRPC4AP Leu506Ile L506I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.958 - - -2 - 2 N - - TRPM6 Val875Phe V875F not reviewed Insufficiently evaluated not reviewed unknown Array 1234 10758 0.114705 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 3 - 2 N - - TRPV4 Glu286Ala E286A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - TRPV5 Asp722Glu D722E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.772 - - -2 - 1 N - - TSC22D1 Pro661Leu P661L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSEN54 Pro483Ala P483A not reviewed Insufficiently evaluated not reviewed unknown Array rs62088470 517 10758 0.0480573 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - TSEPA Ala424Thr A424T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSHZ2 Arg502Lys R502K not reviewed Insufficiently evaluated not reviewed unknown Array rs45479792 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -3 - 2 N - - TSKU Val162Leu V162L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TSNAXIP1 Arg428Cys R428C not reviewed Insufficiently evaluated not reviewed unknown Array rs62620177 326 10758 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - TSPAN11 Tyr48Stop Y48X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSPAN17 Ile140Thr I140T not reviewed Insufficiently evaluated not reviewed unknown Array rs17624798 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 3 - 2 - - TSR1 Lys209Asn K209N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 3 - 1 - - TTC16 Lys246Gln K246Q not reviewed Insufficiently evaluated not reviewed unknown Array 374 10758 0.0347648 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.086 - - -2 - 0 N - - TTC21A Asp1218Asn D1218N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.738 - - -1 - 1 N - - TTC21A Asp1219Asn D1219N not reviewed Insufficiently evaluated not reviewed unknown Array 76 10400 0.00730769 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC21B Leu1002Val L1002V not reviewed Insufficiently evaluated not reviewed unknown Array 71 10752 0.00660342 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC27 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 222 10758 0.0206358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TTC27 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10750 0.00669767 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TTC3 Pro1677Ser P1677S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740519 299 10736 0.0278502 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC37 Val1484Gly V1484G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - TTC8 Asp65Gly D65G not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTC8 Asp55Gly D55G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTC9C Ala34Ser A34S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - TTF1 Asp570His D570H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746239 353 10756 0.0328189 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.158 Y - 3 - 1 N - - TTLL12 Pro93Leu P93L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - TTLL5 Asn633Asp N633D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - TUBA1C Ala427Gly A427G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - TUBAL3 Arg250Trp R250W not reviewed Insufficiently evaluated not reviewed unknown Array rs34080891 413 10758 0.03839 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 3 - 2 - - TUBD1 Ile139Val I139V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TUBGCP6 Gln1389Stop Q1389X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TULP2 Arg174His R174H not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - TULP4 Ser522Asn S522N not reviewed Insufficiently evaluated not reviewed unknown Array rs12206717 477 10758 0.0443391 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXK Arg336Gln R336Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11724347 590 10758 0.0548429 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 7 - - TXLNB Ala534Gly A534G not reviewed Insufficiently evaluated not reviewed unknown Array rs61754935 310 10758 0.0288158 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC16 Asp454Asn D454N not reviewed Insufficiently evaluated not reviewed unknown Array rs61746814 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.225 - - -1 - 1 N - - TXNDC16 Asp449Asn D449N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TXNDC16 Ala180Gly A180G not reviewed Insufficiently evaluated not reviewed unknown Array 245 10756 0.022778 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - TXNDC16 Ala175Gly A175G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - TXNDC6 Pro165Ser P165S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TYK2 Ala928Val A928V benign Low clinical importance, Uncertain benign unknown Array rs35018800 63 10758 0.00585611 1 0 1 1 1 ! Y - - 3 Y - - - - - - - - - - 0.999 - - 2 - 3 - 5 0 0 Probably benign. TYK2 Arg124Cys R124C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TYMP Pro472Leu P472L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.057 Y Y 7 Y 2 N - - TYR Thr88Pro T88P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 4 Y 5 - 10 - - UBAP2 Thr589Ala T589A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - UBAP2 Ser568Leu S568L not reviewed Insufficiently evaluated not reviewed unknown Array rs10971808 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - 6 Y 3 - 2 - - UBE2O Tyr1251Stop Y1251X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBE2Q1 Val136Gly V136G not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UBE3C Ser125Gly S125G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - UBL4B Glu128Asp E128D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - UBN1 Ala274Val A274V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBN2 Asn781Ile N781I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - 7 Y 1 N - - UBP1 His79Tyr H79Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61751640 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -1 - 0 N - - UBQLN2 Pro524Ser P524S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBR1 Met888Ile M888I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - UBR4 Ile3550Val I3550V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -4 - 0 N - - UBR4 Glu3246Asp E3246D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.576 - - -2 - 1 N - - UBR4 Lys2130Arg K2130R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - UBR4 Asn262Thr N262T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 1 - 2 N - - UBTD1 Glu32Asp E32D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - UBTD2 Asn234Asp N234D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.967 - - -1 - 2 N - - UBXN1 Glu275Asp E275D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - UCHL5 Ile260Val I260V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGCG Ile227Thr I227T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UGT1A4 Gly158Arg G158R not reviewed Insufficiently evaluated not reviewed unknown Array rs2011404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.337 - - 6 Y 1 N - - UGT1A5 Leu63Pro L63P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - UGT1A5 His142Asn H142N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 4 - - UGT1A5 Ala158Gly A158G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 2 - 3 - - UGT2A1 Glu380Lys E380K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - UGT2A2 Glu381Lys E381K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT2B4 Lys40Asn K40N not reviewed Insufficiently evaluated not reviewed unknown Array rs41299974 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.117 - - 1 - 1 - 1 - - UHRF1BP1 Arg1380Lys R1380K not reviewed Insufficiently evaluated not reviewed unknown Array rs34672415 120 9630 0.0124611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UHRF1BP1L Thr283Ile T283I not reviewed Insufficiently evaluated not reviewed unknown Array rs17851246 499 10758 0.0463841 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - ULK2 Pro311Ser P311S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ULK2 Pro242Ser P242S not reviewed Insufficiently evaluated not reviewed unknown Array rs34670978 204 10758 0.0189626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ULK4 Leu1071Pro L1071P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ULK4 Val1004Leu V1004L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - UMODL1 Ser1027Asn S1027N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 3 - 2 - - UMODL1 Ser1155Asn S1155N not reviewed Insufficiently evaluated not reviewed unknown Array 99 10546 0.00938744 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC13B Asp238Glu D238E not reviewed Insufficiently evaluated not reviewed unknown Array rs35199210 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - UNC45B Arg367Cys R367C not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 3 - 1 - - UNC84A Ser583Gly S583G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC84A Ser500Gly S500G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USH2A Thr4918Met T4918M not reviewed Insufficiently evaluated not reviewed unknown Array rs56136489 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.715 Y Y 2 - 3 N - - USH2A Thr3421Pro T3421P not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.746 Y Y 4 Y 3 N - - USH2A Val2562Ala V2562A not reviewed Insufficiently evaluated not reviewed unknown Array rs56385601 71 10758 0.00659974 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 2 - 3 - 3 - - USP13 Asn462Ile N462I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - USP13 Arg759Gly R759G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - USP2 Arg160Trp R160W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 7 Y 2 N - - USP20 Val444Ile V444I not reviewed Insufficiently evaluated not reviewed unknown Array rs36055332 187 10466 0.0178674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 3 - 3 - - USP3 Cys157Arg C157R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - USP36 Asn148Ser N148S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - USP6 Val525Ile V525I not reviewed Insufficiently evaluated not reviewed unknown Array rs2304449 612 10748 0.0569408 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.574 - - -4 - 1 - 3 - - USP6 Arg1101Trp R1101W not reviewed Insufficiently evaluated not reviewed unknown Array 267 10758 0.0248187 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - USP9X Lys141Glu K141E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - USP9X Tyr1815His Y1815H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UTP18 Thr480Ile T480I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732669 59 9466 0.00623283 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - UTP20 Val354Leu V354L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTP20 Arg693Lys R693K not reviewed Insufficiently evaluated not reviewed unknown Array 258 10758 0.0239822 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - -3 - 2 N - - UTP20 Glu2514Asp E2514D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UTP3 Asp371Glu D371E not reviewed Insufficiently evaluated not reviewed unknown Array rs34648105 75 10714 0.00700019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - UTP6 Lys197Thr K197T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 3 - 2 N - - UTP6 Gln97Arg Q97R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VASH2 Met246Leu M246L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VASH2 Met225Leu M225L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VASH2 Met186Leu M186L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VAV3 Pro671Thr P671T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - VAV3 Pro111Thr P111T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VAV3 Leu43Ile L43I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.685 - - -2 - 1 N - - VCAM1 Glu437Gly E437G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - VCAM1 Glu345Gly E345G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VCAN Arg524Gly R524G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.581 Y Y 6 Y 3 N - - VCAN Thr689Ala T689A benign Low clinical importance, Uncertain benign unknown Array rs61754531 69 10712 0.00644137 3 0 3 0 0 ! Y - - 4 Y - - - - - - Y - - - 0.862 Y Y 1 - 4 N 0 0 Probably not pathogenic, seen in two healthy PGP participants, contradicting a severe pathogenic effect. VCL Glu887Asp E887D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.907 Y Y -2 - 4 N - - VDAC1 Thr165Ile T165I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - VEPH1 Thr158Asn T158N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 1 - 2 - - VGLL3 Tyr219Ser Y219S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - VN1R2 Gly118Arg G118R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - VPREB3 Arg60Trp R60W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - VPS13A Leu2917Ser L2917S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.984 - Y 6 Y 3 N - - VPS13A Leu2878Ser L2878S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - VPS13B His376Asp H376D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 3 - 4 N - - VPS13B Ser3117Gly S3117G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10734 0.00437861 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - VPS13B Ser3142Gly S3142G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 2 - 2 N - - VPS13B Ala3716Thr A3716T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y 1 - 3 N - - VPS13B Ala3691Thr A3691T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10752 0.00372024 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - VPS13B Arg3696Gln R3696Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - VPS13B Arg3721Gln R3721Q benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 1 1 ! Y - - 0 Y - - - - - - Y - - - 0.894 Y Y 0 - 4 N 0 0 Tentatively evaluated as benign. Polyphen 2 predicts damaging, and other recessive variants in this gene cause Cohen syndrome, but these are almost always more severely disruptive nonsense, frameshift, or splicing mutations. VPS13C Arg2730Cys R2730C not reviewed Insufficiently evaluated not reviewed unknown Array rs35236516 129 10758 0.0119911 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VPS13C Arg2687Cys R2687C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VPS13C Tyr2678Cys Y2678C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - VPS13C Tyr2635Cys Y2635C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS13D Arg2432Cys R2432C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - VPS39 Glu752Asp E752D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VPS39 Phe358Ser F358S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VPS41 Glu432Lys E432K not reviewed Insufficiently evaluated not reviewed unknown Array rs62444122 561 10752 0.0521763 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VPS41 Glu407Lys E407K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VSIG4 Gly272Glu G272E not reviewed Insufficiently evaluated not reviewed unknown Array rs34222730 9 8760 0.0010274 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 1 - 4 - - VSIG4 Gly178Glu G178E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - VSIG8 Val47Ile V47I not reviewed Insufficiently evaluated not reviewed unknown Array rs62624468 361 10758 0.0335564 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VTCN1 Leu8Pro L8P not reviewed Insufficiently evaluated not reviewed unknown Array rs34957002 197 10758 0.018312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - VWF Gly2705Arg G2705R benign Low clinical importance, Uncertain benign unknown Array rs7962217 495 10758 0.0460123 2 0 2 1 1 ! Y - - 1 Y - - - - - - Y - - - 0.992 Y Y 6 Y 5 - 3 0 0 Probably benign, seems to be considered an uncommon polymorphism. VWF Thr2666Met T2666M not reviewed Insufficiently evaluated not reviewed unknown Array 251 10758 0.0233315 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - VWF Ser1932Phe S1932F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - VWF Arg1888Met R1888M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.952 Y Y 4 Y 4 N - - VWF Asn1885Asp N1885D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.478 Y Y -1 - 3 N - - WAPAL Val124Phe V124F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 5 - - WAS His180Asn H180N not reviewed Insufficiently evaluated not reviewed unknown Array 12 8761 0.00136971 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.386 Y Y 0 - 3 N - - WBSCR28 Arg55Trp R55W not reviewed Insufficiently evaluated not reviewed unknown Array 231 9610 0.0240375 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WBSCR28 Gly137Ser G137S not reviewed Insufficiently evaluated not reviewed unknown Array rs73142829 382 10646 0.035882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - WDR17 Leu1042Val L1042V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - WDR17 Leu1018Val L1018V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR18 Ile239Thr I239T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.78 - - 3 - 1 N - - WDR36 His212Pro H212P benign Low clinical importance, Uncertain benign unknown Array 5 10734 0.000465809 1 0 1 2 2 ! Y 1 Y 3 Y 0 Y - - - - Y - - - 0.999 Y - 5 Y 4 - 6 0 0 Probably benign. WDR53 Glu181Gln E181Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - WDR6 Val294Gly V294G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR64 Ile582Met I582M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR66 Phe1095Ser F1095S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10224 0.00156494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR76 Met621Thr M621T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 2 - 2 N - - WDR88 Thr429Asn T429N not reviewed Insufficiently evaluated not reviewed unknown Array 219 10758 0.0203569 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - WFDC8 Phe123Leu F123L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - WNK1 Ser795Pro S795P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - WNK1 Thr1706Ala T1706A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - WNT10A Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 1 1 - - - - - - - - - - - - - - - - 0.871 - - 6 Y 3 - 2 - - WNT8B Cys114Trp C114W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - WTAP Ala367Thr A367T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XIAP Asn416Ile N416I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 7 Y 2 N - - XIRP1 Leu1701Pro L1701P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 7 Y 0 N - - XKR9 Cys200Tyr C200Y not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - XKR9 Leu222Phe L222F not reviewed Insufficiently evaluated not reviewed unknown Array rs61734026 106 10754 0.0098568 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.3 - - 0 - 2 - 1 - - XKRX Thr84Ile T84I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - XPO1 Ala943Gly A943G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - XPO4 Val604Ala V604A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.657 - - 2 - 1 N - - XRCC6 Tyr289Cys Y289C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - XRCC6BP1 Thr180Ser T180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - XRCC6BP1 Ala229Val A229V not reviewed Insufficiently evaluated not reviewed unknown Array 48 9534 0.00503461 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - XRN2 Tyr177Cys Y177C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - XRN2 Met581Val M581V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - XYLB Asn348Asp N348D not reviewed Insufficiently evaluated not reviewed unknown Array rs2234622 326 10758 0.030303 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 2 - 3 - - XYLT2 Pro418Leu P418L not reviewed Insufficiently evaluated not reviewed unknown Array rs72832454 275 10758 0.0255624 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 0 N - - YES1 Trp129Leu W129L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - YES1 Lys113Gln K113Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 10756 0.00548531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - YIF1B Ser47Ile S47I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - YIF1B Ser44Ile S44I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.09 - - 5 Y 0 N - - YIF1B Ser32Ile S32I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - YIF1B Ser30Ile S30I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - YIF1B Ser16Ile S16I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - YIPF3 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array rs2231763 279 10570 0.0263955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 2 - - YIPF5 Gln59Arg Q59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 1 N - - YSK4 Cys616Trp C616W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZBP1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs45521631 177 10754 0.016459 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -1 - 1 - 5 - - ZBTB1 Thr203Asn T203N not reviewed Insufficiently evaluated not reviewed unknown Array rs45512391 773 10758 0.0718535 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 - 1 - - ZBTB22 Glu591Gly E591G not reviewed Insufficiently evaluated not reviewed unknown Array rs61734030 112 10748 0.0104205 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 1 - - ZBTB24 Arg49Gln R49Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - ZBTB25 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZBTB45 Asp293Glu D293E not reviewed Insufficiently evaluated not reviewed unknown Array 385 10754 0.0358006 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 2 - 2 - - ZBTB48 Ser675Ala S675A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229330 518 10758 0.0481502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.711 - - -1 - 2 - 4 - - ZC3H12A Pro32Leu P32L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 7 Y 2 N - - ZC3H12A Arg33Ser R33S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 1 N - - ZC3H3 Asn122Ile N122I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZC3H4 Pro1109Leu P1109L not reviewed Insufficiently evaluated not reviewed unknown Array 115 9252 0.0124297 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 7 Y 2 N - - ZC3H4 Ala163Val A163V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10072 0.00178713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ZC3H7A Gln835His Q835H not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZCCHC11 Glu1187Asp E1187D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - ZCCHC12 Arg12Gly R12G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ZCCHC5 Val437Ile V437I not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ZCCHC6 Glu1248Gly E1248G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - ZDHHC12 Asn238Ile N238I not reviewed Insufficiently evaluated not reviewed unknown Array rs11539209 608 10722 0.0567058 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - ZDHHC21 Leu136Pro L136P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZDHHC3 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.192 - - -4 - 0 N - - ZFC3H1 Arg937Cys R937C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - ZFHX3 Gln1852Pro Q1852P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737017 368 10758 0.0342071 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.707 - - 4 Y 1 N - - ZFP1 Leu165Pro L165P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - ZFP112 Thr287Lys T287K not reviewed Insufficiently evaluated not reviewed unknown Array rs10419604 283 10758 0.026306 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ZFP112 Thr281Lys T281K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 2 - 3 - - ZFP112 Gly163Glu G163E not reviewed Insufficiently evaluated not reviewed unknown Array rs16978965 282 10758 0.026213 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ZFP112 Gly157Glu G157E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 2 - - ZFP90 His114Tyr H114Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746929 110 9846 0.011172 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - -1 - 2 - 1 - - ZFYVE1 His720Pro H720P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.614 - - 5 Y 1 N - - ZFYVE1 His305Pro H305P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZFYVE16 Ala771Ser A771S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.957 - - -1 - 2 N - - ZFYVE20 Glu535Asp E535D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - -2 - 0 N - - ZFYVE20 Glu531Asp E531D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - -2 - 1 N - - ZHX3 Ser78Phe S78F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZMAT2 Asn83Lys N83K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 0 N - - ZMYM3 Lys861Arg K861R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 1 N - - ZMYND10 Arg369Trp R369W not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - ZMYND12 Ser355Ile S355I not reviewed Insufficiently evaluated not reviewed unknown Array rs41301052 271 10758 0.0251906 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - ZMYND12 Ser245Ile S245I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZMYND8 Ala792Val A792V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMYND8 Ala767Val A767V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF100 Met8Val M8V not reviewed Insufficiently evaluated not reviewed unknown Array rs12974842 620 10720 0.0578358 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 - 4 - - ZNF101 His298Tyr H298Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35358946 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 0 N - - ZNF114 Arg244Gln R244Q not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.917 - - 0 - 2 N - - ZNF121 Asn273Asp N273D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - ZNF132 Val564Ala V564A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.296 - - 2 - 1 N - - ZNF134 Asn274His N274H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10742 0.000186185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF175 His531Leu H531L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - ZNF177 Asp94Gly D94G not reviewed Insufficiently evaluated not reviewed unknown Array rs2230750 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 3 - 3 - - ZNF180 Cys554Ser C554S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ZNF181 Arg567Ser R567S not reviewed Insufficiently evaluated not reviewed unknown Array 271 10750 0.0252093 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - ZNF181 Arg566Ser R566S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF202 Lys259Glu K259E not reviewed Insufficiently evaluated not reviewed unknown Array rs61767139 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 3 - 5 - - ZNF215 Phe301Leu F301L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10752 0.00446428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - ZNF217 Cys286Trp C286W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ZNF221 Gly418Glu G418E not reviewed Insufficiently evaluated not reviewed unknown Array rs61734607 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF221 Thr473Met T473M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF222 Cys246Arg C246R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF222 Cys206Arg C206R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF235 Arg75Thr R75T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - ZNF236 Ser166Leu S166L not reviewed Insufficiently evaluated not reviewed unknown Array rs2276211 134 9964 0.0134484 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 2 - 4 - - ZNF236 Ser643Gly S643G not reviewed Insufficiently evaluated not reviewed unknown Array rs3794873 199 9480 0.0209916 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF248 Lys218Glu K218E not reviewed Insufficiently evaluated not reviewed unknown Array rs11011379 170 10748 0.0158169 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 2 - 3 - - ZNF256 Glu520Gln E520Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF276 Arg351Trp R351W not reviewed Insufficiently evaluated not reviewed unknown Array rs17719249 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 3 - 3 - - ZNF276 Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 2 - 3 - - ZNF280B Trp339Leu W339L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.819 - - 5 Y 1 N - - ZNF280D Lys412Glu K412E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF280D Lys399Glu K399E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF281 Lys131Arg K131R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -3 - 0 N - - ZNF285A Met342Ile M342I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF286A Gln165His Q165H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -1 - 2 - 1 - - ZNF3 Ser208Ile S208I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.546 - - 5 Y 1 N - - ZNF304 Cys94Arg C94R not reviewed Insufficiently evaluated not reviewed unknown Array rs45619942 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.608 - - 8 Y 1 N - - ZNF304 Ala416Thr A416T not reviewed Insufficiently evaluated not reviewed unknown Array rs45612632 210 10758 0.0195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.088 - - 1 - 0 N - - ZNF311 Glu149Stop E149X not reviewed Insufficiently evaluated not reviewed unknown Array 4 7512 0.000532481 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF331 Ile62Val I62V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ZNF335 Pro655Ser P655S not reviewed Insufficiently evaluated not reviewed unknown Array rs117132825 75 10758 0.00697156 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 2 N - - ZNF341 Ala697Val A697V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF350 Ala460Val A460V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF385D Pro25His P25H not reviewed Insufficiently evaluated not reviewed unknown Array 356 10758 0.0330917 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - ZNF394 Arg181Gly R181G not reviewed Insufficiently evaluated not reviewed unknown Array rs61737532 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.927 - - 6 Y 2 N - - ZNF408 Leu67Val L67V not reviewed Insufficiently evaluated not reviewed unknown Array rs35652367 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 1 - 1 - - ZNF415 Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF415 Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF418 Asn440Thr N440T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - ZNF426 Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.225 - - 1 - 1 N - - ZNF429 Val120Ile V120I not reviewed Insufficiently evaluated not reviewed unknown Array rs62108336 167 10524 0.0158685 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF429 Ile390Val I390V not reviewed Insufficiently evaluated not reviewed unknown Array 83 10144 0.00818218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF432 Ser428Thr S428T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - ZNF442 Thr539Ser T539S not reviewed Insufficiently evaluated not reviewed unknown Array 281 10758 0.0261201 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF45 Ile380Val I380V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF45 His270Pro H270P not reviewed Insufficiently evaluated not reviewed unknown Array rs61731637 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ZNF45 Asn147Asp N147D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 1 N - - ZNF48 Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array rs34843513 296 10758 0.0275144 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ZNF484 His646Asp H646D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF484 His682Asp H682D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ZNF484 Phe217Leu F217L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF484 Phe253Leu F253L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - ZNF485 Ser366Ile S366I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF498 Val502Gly V502G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - ZNF502 Ile72Val I72V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ZNF512 Ala58Gly A58G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF519 Arg528Cys R528C not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - ZNF521 Glu301Lys E301K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ZNF521 Glu57Gly E57G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 6 Y 1 N - - ZNF526 His354Asp H354D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ZNF528 Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - ZNF532 Ala856Gly A856G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - ZNF544 Asn635Ser N635S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - 0 - 1 N - - ZNF546 Pro664His P664H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ZNF550 Thr353Pro T353P not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF550 Thr103Ile T103I not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF583 Met544Val M544V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - 0 - 1 N - - ZNF587 Val453Ala V453A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ZNF592 Leu860Ile L860I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF599 Thr349Met T349M not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - ZNF621 Ser49Phe S49F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - ZNF623 Gly409Trp G409W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - ZNF623 Gly369Trp G369W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF625 Gly177Arg G177R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.167 - - 6 Y 1 - 1 - - ZNF639 Asn353Ser N353S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF645 Ile33Asn I33N not reviewed Insufficiently evaluated not reviewed unknown Array 34 8761 0.00388083 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 0 N - - ZNF649 Ile73Leu I73L not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.366 - - -2 - 1 N - - ZNF655 Cys466Gly C466G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF655 Cys501Gly C501G not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF671 Cys402Arg C402R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF671 Glu401Asp E401D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF678 Cys351Tyr C351Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61740826 178 10696 0.0166417 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF678 Gly401Arg G401R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - ZNF708 His554Arg H554R not reviewed Insufficiently evaluated not reviewed unknown Array rs62620702 257 10756 0.0238936 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - ZNF709 His420Tyr H420Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - ZNF709 His388Tyr H388Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF75D Asp262Gly D262G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - ZNF772 Gly96Val G96V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF772 Gly137Val G137V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 8 Y 1 N - - ZNF773 Val268Phe V268F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - ZNF777 Glu175Asp E175D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF804B Lys1137Arg K1137R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF804B Tyr1158His Y1158H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF816A Ala147Ser A147S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF821 Glu250Asp E250D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF828 Val296Ala V296A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - ZNF828 Ala586Ser A586S not reviewed Insufficiently evaluated not reviewed unknown Array 304 10758 0.028258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ZNF83 Tyr345Phe Y345F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF83 Tyr317Phe Y317F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF831 Ala1469Asp A1469D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - ZNF91 Lys964Arg K964R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10584 0.0016062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF91 Asp692Gly D692G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNRF4 Ser14Thr S14T not reviewed Insufficiently evaluated not reviewed unknown Array 160 10494 0.0152468 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZP1 Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 1 1 - - - - - - - - - - - - - - - - 0.36 - - -4 - 2 - 3 - - ZP3 Pro170Arg P170R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 2 - 1 - - ZP3 Pro221Arg P221R not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZPBP2 Pro46Ala P46A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 2 - 3 - - ZPBP2 Pro68Ala P68A not reviewed Insufficiently evaluated not reviewed unknown Array rs35591738 78 10726 0.00727205 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 3 - 3 - - ZSCAN20 Glu564Asp E564D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZSCAN22 Glu15Lys E15K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZSCAN4 Glu387Lys E387K not reviewed Insufficiently evaluated not reviewed unknown Array rs11668570 247 10758 0.0229597 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 3 - 3 - - ZSWIM1 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - ZSWIM5 Arg790His R790H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10328 0.00048412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZUFSP Ile577Thr I577T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - RHO Gly51Val G51V pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 3 3 2 Y 3 Y 0 Y 4 Y 3 - 4 - Y - - - 0.994 Y - 8 Y Retinitis Pigmentosa, Autosomal Recessive 2 148 0 100 INF 4 - 10 - - This variant is implicated in autosomal dominant retinitis pigmentosa, found in two families. ACADM Gly242Arg G242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ACADM Leu59Phe L59F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ACADM Arg181Cys R181C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 3 - - ACADM Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AGXT Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10724 0.000839239 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 5 - 10 - - AIRE Tyr85Cys Y85C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 6 Y 4 - 10 - - ALDOB Tyr204Stop Y204X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 4 - 2 - - ALPL Asp361Val D361V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 9 - - ATP7B Arg778Gly R778G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 5 - 10 - - ATP7B Trp779Stop W779X not reviewed Insufficiently evaluated not reviewed unknown Array 2 9958 0.000200843 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - BCKDHB Glu322Stop E322X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - BTD Phe403Val F403V not reviewed Insufficiently evaluated not reviewed recessive Array 0 0 0 2 2 1 Y - - - - - - 4 Y 5 Y Y - - - 0.978 Y Y 3 - 5 - 7 - - CFTR Asp1152His D1152H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.097 Y Y 3 - 3 - 10 - - CFTR Glu60Stop E60X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CFTR Gly178Arg G178R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 6 Y 5 - 10 - - CFTR Gly330Stop G330X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CFTR Gly622Asp G622D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 4 Y 5 - 10 - - CFTR Ile148Thr I148T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.227 Y Y 3 - 4 - 10 - - CFTR Met1101Lys M1101K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 4 Y 5 - 10 - - CFTR Arg1070Gln R1070Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 5 - 10 - - CFTR Arg117Cys R117C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 5 - 10 - - CFTR Arg709Stop R709X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CFTR Arg75Stop R75X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CFTR Ser1196Stop S1196X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CFTR Ser364Pro S364P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.859 Y Y 3 - 5 - 10 - - CFTR Tyr122Stop Y122X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CLRN1 Asn48Lys N48K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 1 - 4 - 10 - - CNGB3 Glu336Stop E336X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10724 9.3248e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - CNGB3 Arg403Gln R403Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 0 - 5 - 10 - - CPT1A Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.854 Y Y 7 Y 5 - 10 - - CPT2 Gly549Asp G549D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 4 Y 5 - 10 - - CPT2 Pro604Ser P604S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 5 - 4 - - CPT2 Gln550Arg Q550R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 0 - 5 - 3 - - CPT2 Arg124Stop R124X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 3 - - CTNS Asp205Asn D205N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 4 - 4 - - CTNS Leu158Pro L158P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 4 - 7 - - CTSK Stop330Trp X330W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 - 1 - - DHCR7 Cys380Tyr C380Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 5 - 7 - - DHCR7 Leu109Pro L109P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.423 Y Y 7 Y 4 - 7 - - DHCR7 Leu157Pro L157P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.911 Y Y 7 Y 5 - 9 - - F5 His1299Arg H1299R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - FAH Pro261Leu P261L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 5 - 10 - - G6PC Gly270Val G270V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 5 - 2 - - G6PC Gln242Stop Q242X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - G6PC Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 5 - 10 - - G6PT1 Ala367Thr A367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - G6PT1 Gly339Cys G339C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 2 - 3 - - G6PT1 Gly339Asp G339D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - GALC Gly270Asp G270D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 10 - - GALC Arg168Cys R168C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 4 - 8 - - GALT Leu195Pro L195P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 7 Y 5 - 10 - - GALT Gln169Lys Q169K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -2 - 5 - 6 - - GALT Thr138Met T138M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 5 - 10 - - GALT Stop380Arg X380R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 - 10 - - GALT Tyr209Cys Y209C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 5 - 10 - - GBA Arg463His R463H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 4 - 10 - - GJB2 Gln124Stop Q124X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - HFE Glu168Gln E168Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.853 Y Y -2 - 5 - 10 - - HFE Glu168Stop E168X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - HFE Trp169Stop W169X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - HGD Ser47Leu S47L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 4 - 1 - - IDUA Ala327Pro A327P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10732 9.3179e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 3 - 6 - - IVD Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array rs28940889 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.974 Y - 2 - 4 - 1 - - LAMB3 Gln243Stop Q243X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 9 - - LAMB3 Arg144Stop R144X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 5 - - MEFV Met680Ile M680I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.527 Y Y -1 - 4 - 10 - - MP1 Arg295His R295H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PYGM Lys542Stop K542X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - PYGM Arg49Stop R49X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 5 - 10 - - SGCB Ser114Phe S114F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.83 Y - 5 Y 3 - 4 - - F5 Arg534Arg R534R pathogenic Insufficiently evaluated pathogenic other Array 0 0 0 3 3 2 Y 1 Y 5 Y - - 3 - 4 - Y - - - - Y Y -10 - 3 N - - DYSF Glu457Lys E457K pathogenic Insufficiently evaluated pathogenic recessive Array rs61740288 1 128 0.0078125 2 0 2 1 1 2 Y - - - - - - - - - - Y - - - 0.986 Y Y 0 - 4 N - - Putatively causes Miyoshi myopathy in a recessive manner. Unknown allele frequency, seen compound heterozygously in 1 of 40 patients. OR4C45 Tyr60Stop Y60X not reviewed Insufficiently evaluated not reviewed unknown Array rs3898634 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CASP12 Arg125Stop R125X not reviewed Insufficiently evaluated not reviewed unknown Array rs497116 123 128 0.960938 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - DBI Tyr28Stop Y28X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DBI Tyr47Stop Y47X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - ALS2CR11 Ser1141Stop S1141X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PHF14 Gly414Stop G414X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CSMD1 Arg3429Stop R3429X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EXOSC4 Glu177Stop E177X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - H2BFM Gln73Stop Q73X not reviewed Insufficiently evaluated not reviewed unknown Array rs2301384 886 2482 0.35697 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - ATAD3A Cys491Arg C491R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATAD3A Cys570Arg C570R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATAD3A Cys618Arg C618R not reviewed Insufficiently evaluated not reviewed unknown Array rs41285842 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MIB2 Phe72Leu F72L not reviewed Insufficiently evaluated not reviewed unknown Array rs7418389 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDK11A Arg93Trp R93W not reviewed Insufficiently evaluated not reviewed unknown Array rs1059831 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK11B Arg59Trp R59W not reviewed Insufficiently evaluated not reviewed unknown Array rs1059831 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK11B Arg93Trp R93W not reviewed Insufficiently evaluated not reviewed unknown Array rs1059831 4370 9726 0.449311 41 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MEGF6 Pro1135Leu P1135L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10224 0.00127152 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - THAP3 Gln226Arg Q226R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THAP3 Gln227Arg Q227R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RERE Pro240Leu P240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RERE Pro794Leu P794L not reviewed Insufficiently evaluated not reviewed unknown Array 110 10066 0.0109279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM201 Pro579Leu P579L not reviewed Insufficiently evaluated not reviewed unknown Array rs4926472 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF127 Ala353Thr A353T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF127 Ile286Thr I286T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KAZ Ala706Thr A706T not reviewed Insufficiently evaluated not reviewed unknown Array rs10803354 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLCNKB Ala118Val A118V not reviewed Insufficiently evaluated not reviewed unknown Array rs7367494 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CLCNKB Met393Thr M393T not reviewed Insufficiently evaluated not reviewed unknown Array rs5253 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CLCNKB Lys409Glu K409E not reviewed Insufficiently evaluated not reviewed unknown Array rs2275166 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CELA3B Ile209Val I209V not reviewed Insufficiently evaluated not reviewed unknown Array 234 10758 0.0217513 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRHL3 Thr408Met T408M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRHL3 Met595Lys M595K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AIM1L Ser1294Asn S1294N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AIM1L Ser902Tyr S902Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AIM1L Arg847His R847H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AIM1L Pro689Thr P689T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AIM1L Val634Ala V634A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AIM1L Arg25Trp R25W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AIM1L Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYTL1 Gln456Arg Q456R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813795 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRSF4 Gly356Ser G356S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230678 7907 10746 0.735809 46 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SRSF4 Gly338Ala G338A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230677 7911 10750 0.735907 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SRSF4 Glu253Asp E253D not reviewed Insufficiently evaluated not reviewed unknown Array rs2230679 9172 10758 0.852575 49 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYCL1 Thr392Ser T392S not reviewed Insufficiently evaluated not reviewed unknown Array rs3134614 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCMH1 Ile123Val I123V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCMH1 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC17 Ser571Asn S571N not reviewed Insufficiently evaluated not reviewed unknown Array rs3014246 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC17 Ser580Asn S580N not reviewed Insufficiently evaluated not reviewed unknown Array rs3014246 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC17 Pro344Leu P344L not reviewed Insufficiently evaluated not reviewed unknown Array rs3014242 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC17 Pro353Leu P353L not reviewed Insufficiently evaluated not reviewed unknown Array rs3014242 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ORC1 Ser269Leu S269L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.825 Y - 6 Y 2 N - - ACOT11 Arg256Trp R256W not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HOOK1 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array rs41312662 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - INADL Arg130Trp R130W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - EFCAB7 Val324Ile V324I not reviewed Insufficiently evaluated not reviewed unknown Array 91 10754 0.00846197 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - PGM1 Tyr223His Y223H not reviewed Insufficiently evaluated not reviewed unknown Array rs11208257 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PGM1 Tyr438His Y438H not reviewed Insufficiently evaluated not reviewed unknown Array rs11208257 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WLS Val374Ile V374I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WLS Val463Ile V463I not reviewed Insufficiently evaluated not reviewed unknown Array rs983034 39 128 0.304688 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - WLS Val465Ile V465I not reviewed Insufficiently evaluated not reviewed unknown Array rs983034 3351 10758 0.311489 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CTH Ser371Ile S371I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - TYW3 Met88Val M88V not reviewed Insufficiently evaluated not reviewed unknown Array rs1133891 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPF1 Ser9Gly S9G not reviewed Insufficiently evaluated not reviewed unknown Array rs2292191 5441 10748 0.506234 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SSX2IP Cys551Arg C551R not reviewed Insufficiently evaluated not reviewed unknown Array rs1057746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MTF2 Cys38Ser C38S not reviewed Insufficiently evaluated not reviewed unknown Array rs2815427 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL11A1 Ser1419Pro S1419P not reviewed Insufficiently evaluated not reviewed unknown Array rs1676486 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL11A1 Pro1207Leu P1207L not reviewed Insufficiently evaluated not reviewed unknown Array rs3753841 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - AKNAD1 Asn616Lys N616K not reviewed Insufficiently evaluated not reviewed unknown Array rs7551421 6617 10756 0.615192 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKNAD1 Ser61Asn S61N not reviewed Insufficiently evaluated not reviewed unknown Array rs1277207 8969 10758 0.833705 55 0 92 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTPN22 Trp565Arg W565R not reviewed Insufficiently evaluated not reviewed unknown Array rs2476601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VANGL1 Ala114Thr A114T not reviewed Insufficiently evaluated not reviewed unknown Array rs4839469 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CD101 Asn225Ser N225S not reviewed Insufficiently evaluated not reviewed unknown Array rs3754112 2587 10756 0.240517 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - CD101 Met415Val M415V not reviewed Insufficiently evaluated not reviewed unknown Array rs2249265 10486 10758 0.974716 56 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD101 Ser525Arg S525R not reviewed Insufficiently evaluated not reviewed unknown Array rs17235773 708 10758 0.0658115 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.825 - - 3 - 0 N - - NOTCH2 Thr235Ser T235S not reviewed Insufficiently evaluated not reviewed unknown Array 3 46 0.0652174 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y -2 - 3 N - - NOTCH2 Pro227His P227H benign Low clinical importance, Uncertain benign unknown Array rs3899528 2 10758 0.000185908 2 0 2 0 0 ! Y - - 4 Y - - - - - - Y - - - 0.93 Y Y 5 Y 4 N 0 0 Probably benign. Predicted to be damaging by Polyphen 2 and other damaging variants cause Alagille syndrome, but this variant is not rare enough and has been seen in a healthy PGP participant. NOTCH2 Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array rs2258139 4 12 0.333333 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - PDE4DIP Arg28Leu R28L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCGR1A Asp324Asn D324N not reviewed Insufficiently evaluated not reviewed unknown Array rs1050204 5 98 0.0510204 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FAM63A Thr290Lys T290K not reviewed Insufficiently evaluated not reviewed unknown Array rs2925741 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM63A Thr433Lys T433K not reviewed Insufficiently evaluated not reviewed unknown Array rs2925741 10116 10758 0.940323 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM63A Lys44Glu K44E not reviewed Insufficiently evaluated not reviewed unknown Array rs771205 8600 10756 0.799554 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEMA6C Thr415Pro T415P not reviewed Insufficiently evaluated not reviewed unknown Array rs4971007 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLG Glu2976Asp E2976D not reviewed Insufficiently evaluated not reviewed unknown Array rs66747339 1770 6594 0.268426 17 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - CLK2 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC24 Glu231Gly E231G not reviewed Insufficiently evaluated not reviewed unknown Array rs6682716 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH2D2A Asn24Ser N24S not reviewed Insufficiently evaluated not reviewed unknown Array rs926103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D2A Asn34Ser N34S not reviewed Insufficiently evaluated not reviewed unknown Array rs926103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6K3 Pro248Leu P248L not reviewed Insufficiently evaluated not reviewed unknown Array rs28568406 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR6K3 Pro228Ser P228S not reviewed Insufficiently evaluated not reviewed unknown Array rs857703 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGR3B Ser36Arg S36R not reviewed Insufficiently evaluated not reviewed unknown Array rs403016 22 104 0.211538 13 0 19 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - FCRLA Gly143Ala G143A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCRLA Ser114Gly S114G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCRLA Ser209Gly S209G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCRLA Ser63Gly S63G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCRLA Ser69Gly S69G not reviewed Insufficiently evaluated not reviewed unknown Array rs2275603 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCY10 Ile556Val I556V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADCY10 Ile544Val I544V not reviewed Insufficiently evaluated not reviewed unknown Array rs2071921 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADCY10 Thr81Met T81M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2L2 Ala906Thr A906T not reviewed Insufficiently evaluated not reviewed unknown Array rs760644 8598 10758 0.799219 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAT2L2 Pro935Ala P935A not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2L2 Ser1624Cys S1624C not reviewed Insufficiently evaluated not reviewed unknown Array rs235468 8552 10756 0.795091 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NCF2 Lys136Arg K136R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274064 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - IGFN1 Arg102His R102H not reviewed Insufficiently evaluated not reviewed unknown Array rs4915221 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - IGFN1 Asp402Glu D402E not reviewed Insufficiently evaluated not reviewed unknown Array rs832156 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - IGFN1 Arg565Leu R565L not reviewed Insufficiently evaluated not reviewed unknown Array rs1341631 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGFN1 Asp666Gly D666G not reviewed Insufficiently evaluated not reviewed unknown Array rs10753895 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGFN1 Gly696Asp G696D not reviewed Insufficiently evaluated not reviewed unknown Array rs12094334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGFN1 Met983Val M983V not reviewed Insufficiently evaluated not reviewed unknown Array rs12063867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGFN1 Ala1086Val A1086V not reviewed Insufficiently evaluated not reviewed unknown Array rs7551098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGFN1 Ala1173Ser A1173S not reviewed Insufficiently evaluated not reviewed unknown Array rs7551538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGFN1 Ala1600Thr A1600T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGFN1 Asp2399Gly D2399G not reviewed Insufficiently evaluated not reviewed unknown Array rs12070918 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGFN1 Asn2401Ser N2401S not reviewed Insufficiently evaluated not reviewed unknown Array rs12070919 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGFN1 His3552Tyr H3552Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZBED6 Phe560Leu F560L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBED6 Ser961Asn S961N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDK18 Gly67Arg G67R not reviewed Insufficiently evaluated not reviewed unknown Array rs4623769 19 126 0.150794 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SRGAP2 Val660Ile V660I not reviewed Insufficiently evaluated not reviewed unknown Array rs11120575 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SRGAP2 Arg873Gly R873G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRAF3IP3 Gln373Glu Q373E not reviewed Insufficiently evaluated not reviewed unknown Array rs669694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JMJD4 Ala445Val A445V not reviewed Insufficiently evaluated not reviewed unknown Array rs3087908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DISC1 Arg683Ser R683S not reviewed Insufficiently evaluated not reviewed unknown Array rs821616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DISC1 Ser582Cys S582C not reviewed Insufficiently evaluated not reviewed unknown Array rs821616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DISC1 Ser736Cys S736C not reviewed Insufficiently evaluated not reviewed unknown Array rs821616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DISC1 Lys800Arg K800R not reviewed Insufficiently evaluated not reviewed unknown Array rs821617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CEP170 Met1141Val M1141V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP170 Met1177Val M1177V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP170 Met1275Val M1275V not reviewed Insufficiently evaluated not reviewed unknown Array 258 9526 0.0270838 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.544 - - 0 - 1 N - - CNST Leu87Ser L87S not reviewed Insufficiently evaluated not reviewed unknown Array rs6702823 9525 10758 0.885388 56 0 97 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AHCTF1 Leu2194Val L2194V not reviewed Insufficiently evaluated not reviewed unknown Array rs12410563 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHCTF1 Asn883Ser N883S not reviewed Insufficiently evaluated not reviewed unknown Array rs2642990 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR1E2 Lys86Arg K86R not reviewed Insufficiently evaluated not reviewed unknown Array rs17133693 338 10758 0.0314185 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IL15RA Asn149Thr N149T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228059 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF113 Asp110His D110H not reviewed Insufficiently evaluated not reviewed unknown Array rs625223 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF140 Gly429Glu G429E not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SVIL Arg632Trp R632W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ANKRD30A Thr768Ala T768A not reviewed Insufficiently evaluated not reviewed unknown Array rs12769293 17 2092 0.00812619 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM170B Asp252Glu D252E not reviewed Insufficiently evaluated not reviewed unknown Array 708 3234 0.218924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM170B Leu183Gln L183Q not reviewed Insufficiently evaluated not reviewed unknown Array rs75297145 560 3234 0.17316 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MTRNR2L5 Thr13Ile T13I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM13C Glu460Lys E460K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13C Glu474Lys E474K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13C Glu475Lys E475K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM13C Glu558Lys E558K not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM190B Asn84Ser N84S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814205 28 128 0.21875 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM190B Ser819Pro S819P not reviewed Insufficiently evaluated not reviewed unknown Array rs11557865 26 126 0.206349 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC16A12 Trp17Gly W17G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FRA10AC1 Thr78Arg T78R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275438 4206 10756 0.391038 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FRA10AC1 Arg16His R16H not reviewed Insufficiently evaluated not reviewed unknown Array rs726817 7163 10758 0.66583 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLCE1 Arg1267Pro R1267P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - PLCE1 Thr1469Ile T1469I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PLCE1 His1619Arg H1619R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ZFYVE27 Gly106Val G106V not reviewed Insufficiently evaluated not reviewed unknown Array rs10882993 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ZFYVE27 Gly40Val G40V not reviewed Insufficiently evaluated not reviewed unknown Array rs10882993 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - HPSE2 Tyr467Phe Y467F not reviewed Insufficiently evaluated not reviewed unknown Array rs10883100 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HPSE2 Tyr521Phe Y521F not reviewed Insufficiently evaluated not reviewed unknown Array rs10883100 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDZD7 Asn855Thr N855T not reviewed Insufficiently evaluated not reviewed unknown Array rs807023 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDZD7 Gly538Glu G538E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TLX1NB Ser70Pro S70P not reviewed Insufficiently evaluated not reviewed unknown Array rs12356580 836 9554 0.0875026 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C10ORF81 Phe151Ile F151I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF81 Phe69Ile F69I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMBT1 Ser1085Pro S1085P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - DMBT1 Ser1095Pro S1095P not reviewed Insufficiently evaluated not reviewed unknown Array 10 9864 0.00101379 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.754 - - 3 - 1 N - - DMBT1 Ser596Pro S596P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM196A Ala147Val A147V not reviewed Insufficiently evaluated not reviewed unknown Array rs11594560 2191 10758 0.203662 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAM8 Phe592Leu F592L not reviewed Insufficiently evaluated not reviewed unknown Array rs2275720 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM8 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array rs3008326 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDHR5 Cys508Ser C508S not reviewed Insufficiently evaluated not reviewed unknown Array rs2740379 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDHR5 Cys696Ser C696S not reviewed Insufficiently evaluated not reviewed unknown Array rs2740379 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDHR5 Cys702Ser C702S not reviewed Insufficiently evaluated not reviewed unknown Array rs2740379 10491 10740 0.976816 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CDHR5 Ala493Thr A493T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDHR5 Ala681Thr A681T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDHR5 Ala687Thr A687T not reviewed Insufficiently evaluated not reviewed unknown Array rs7108757 2725 10746 0.253583 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5B Ala2025Thr A2025T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr3702Met T3702M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ser4896Ile S4896I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MOB2 Leu19Pro L19P not reviewed Insufficiently evaluated not reviewed unknown Array rs1881503 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR52R1 Ser245Ala S245A not reviewed Insufficiently evaluated not reviewed unknown Array rs2053116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR52R1 Asn201Tyr N201Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6578533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR52R1 Ile129Thr I129T not reviewed Insufficiently evaluated not reviewed unknown Array rs7941731 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR52R1 Phe88Leu F88L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCUBE2 His586Gln H586Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7395988 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCUBE2 His684Gln H684Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7395988 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MTRNR2L8 Ser12Leu S12L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNJ11 Val250Ile V250I not reviewed Insufficiently evaluated not reviewed unknown Array rs5215 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - NAV2 Arg524Gln R524Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAV2 Arg588Gln R588Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM180B Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array rs4486587 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM216 Arg147Thr R147T not reviewed Insufficiently evaluated not reviewed unknown Array rs10897158 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCB3 Ser778Leu S778L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC22A20 Met146Ile M146I not reviewed Insufficiently evaluated not reviewed unknown Array rs239259 29 124 0.233871 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SLC22A20 Gly246Ala G246A not reviewed Insufficiently evaluated not reviewed unknown Array rs514076 66 128 0.515625 34 0 53 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCNXL3 Tyr1123Cys Y1123C not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - PTPRCAP Ser24Gly S24G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10272 0.00116822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LIPT2 Thr190Ser T190S not reviewed Insufficiently evaluated not reviewed unknown Array rs586088 1929 3234 0.596475 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMEM135 Gly196Arg G196R not reviewed Insufficiently evaluated not reviewed unknown Array rs2276102 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1731 Asp2103Glu D2103E not reviewed Insufficiently evaluated not reviewed unknown Array 187 3234 0.0578231 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.832 - - -2 - 0 N - - LOC643037 Lys16Glu K16E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC643037 Leu86Val L86V not reviewed Insufficiently evaluated not reviewed unknown Array rs647484 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC643037 Arg94Lys R94K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KDM4DL Gln113Arg Q113R not reviewed Insufficiently evaluated not reviewed unknown Array rs10752685 2710 3198 0.847405 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGAP42 Val713Ile V713I not reviewed Insufficiently evaluated not reviewed unknown Array 943 3234 0.291589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CASP12 His273Arg H273R not reviewed Insufficiently evaluated not reviewed unknown Array rs513131 127 128 0.992188 56 0 111 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 1 N - - CASP12 Gly238Ser G238S not reviewed Insufficiently evaluated not reviewed unknown Array rs647039 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CASP12 Thr68Ile T68I not reviewed Insufficiently evaluated not reviewed unknown Array rs693001 123 126 0.97619 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PAFAH1B2 Val151Met V151M not reviewed Insufficiently evaluated not reviewed unknown Array rs4936367 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS4 Val168Gly V168G not reviewed Insufficiently evaluated not reviewed unknown Array rs1941635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMPRSS4 Val206Gly V206G not reviewed Insufficiently evaluated not reviewed unknown Array rs1941635 10419 10758 0.968489 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 1 N - - IFT46 Cys9Tyr C9Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11552421 1660 10758 0.154304 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BCL9L Phe723Leu F723L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SLC37A4 Gly336Ser G336S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SLC37A4 Gly431Ser G431S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PDZD3 Arg372Gln R372Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1815811 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF12 Tyr954Phe Y954F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IQSEC3 Pro283Ser P283S not reviewed Insufficiently evaluated not reviewed unknown Array rs12822449 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQSEC3 Ala558Gly A558G not reviewed Insufficiently evaluated not reviewed unknown Array rs56204927 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WNK1 Thr1308Pro T1308P not reviewed Insufficiently evaluated not reviewed unknown Array rs956868 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - WNK1 Thr1316Pro T1316P not reviewed Insufficiently evaluated not reviewed unknown Array rs956868 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - WNK1 Thr809Pro T809P not reviewed Insufficiently evaluated not reviewed unknown Array rs956868 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - WNK1 Cys1259Ser C1259S not reviewed Insufficiently evaluated not reviewed unknown Array rs7955371 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - WNK1 Cys1758Ser C1758S not reviewed Insufficiently evaluated not reviewed unknown Array rs7955371 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - WNK1 Cys1766Ser C1766S not reviewed Insufficiently evaluated not reviewed unknown Array rs7955371 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - A2M Asp601Gly D601G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - KLRF2 Val68Ile V68I not reviewed Insufficiently evaluated not reviewed unknown Array rs1797517 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KLRF2 Pro131Thr P131T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGP Thr127Ala T127A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC15A5 Asp494Glu D494E not reviewed Insufficiently evaluated not reviewed unknown Array rs1671511 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC15A5 Pro271Leu P271L not reviewed Insufficiently evaluated not reviewed unknown Array rs1527014 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC15A5 Arg252Leu R252L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C12ORF77 Leu131Phe L131F not reviewed Insufficiently evaluated not reviewed unknown Array rs864161 9180 9514 0.964894 52 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LOC100287284 Ser326Thr S326T not reviewed Insufficiently evaluated not reviewed unknown Array rs10842975 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SRSF2IP Phe657Tyr F657Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7315731 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PFKM Arg171Gln R171Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC11A2 Tyr6Ser Y6S not reviewed Insufficiently evaluated not reviewed unknown Array rs445520 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AAAS Arg401Gln R401Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HOXC6 Arg67Trp R67W not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ARHGEF25 Gln506Arg Q506R not reviewed Insufficiently evaluated not reviewed unknown Array rs1564374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF25 Gln545Arg Q545R not reviewed Insufficiently evaluated not reviewed unknown Array rs1564374 5943 10758 0.552426 47 0 61 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRGAP1 Ala565Val A565V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF64 Asn1678Ser N1678S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF64 Leu1829Val L1829V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF64 Ile1840Val I1840V not reviewed Insufficiently evaluated not reviewed unknown Array rs7297767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C12ORF64 Arg1986Gln R1986Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF64 Ile2074Val I2074V not reviewed Insufficiently evaluated not reviewed unknown Array rs2034528 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C12ORF64 Leu2125Phe L2125F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF64 Ala2132Thr A2132T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF64 Asn2237Ser N2237S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IKBIP Gly265Ser G265S not reviewed Insufficiently evaluated not reviewed unknown Array rs1048906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCTN1 Asn106Ser N106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCTN1 Asn110Ser N110S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCTN1 Asn166Ser N166S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - TMEM116 Cys114Gly C114G not reviewed Insufficiently evaluated not reviewed unknown Array rs3752630 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM116 Cys79Gly C79G not reviewed Insufficiently evaluated not reviewed unknown Array rs3752630 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C12ORF51 Thr1745Ser T1745S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VSIG10 His435Tyr H435Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7307331 3931 9744 0.403428 36 0 56 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SRRM4 Ser243Asn S243N not reviewed Insufficiently evaluated not reviewed unknown Array rs7297606 994 9894 0.100465 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRRM4 Arg406Gln R406Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2723880 3075 9920 0.30998 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR109B His253Arg H253R not reviewed Insufficiently evaluated not reviewed unknown Array rs2454726 3457 10574 0.326934 40 0 66 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR109B Phe198Leu F198L not reviewed Insufficiently evaluated not reviewed unknown Array rs17884481 5889 10758 0.547407 37 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR109B Thr173Pro T173P not reviewed Insufficiently evaluated not reviewed unknown Array rs1798192 5888 10758 0.547314 49 0 67 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TMEM132C His161Arg H161R not reviewed Insufficiently evaluated not reviewed unknown Array rs11059681 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM132C Gly810Arg G810R not reviewed Insufficiently evaluated not reviewed unknown Array rs12424159 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SFSWAP Leu421Pro L421P not reviewed Insufficiently evaluated not reviewed unknown Array rs1982528 9928 10758 0.922848 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF268 Met74Leu M74L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TPTE2 Asn336Asp N336D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TPTE2 Asn370Asp N370D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TPTE2 Asn447Asp N447D not reviewed Insufficiently evaluated not reviewed unknown Array 15 90 0.166667 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SKA3 Thr254Ala T254A not reviewed Insufficiently evaluated not reviewed unknown Array rs17345690 1272 10756 0.11826 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - RNF17 Glu1376Lys E1376K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTUS2 Ser412Tyr S412Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73441370 404 9850 0.0410152 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MTUS2 Asp537Gly D537G not reviewed Insufficiently evaluated not reviewed unknown Array rs2987346 953 10154 0.0938546 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MTUS2 Gln952Pro Q952P not reviewed Insufficiently evaluated not reviewed unknown Array rs928661 7454 9620 0.774844 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZAR1L Thr137Ala T137A not reviewed Insufficiently evaluated not reviewed unknown Array 842 2712 0.310472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HTR2A Asp49Asn D49N not reviewed Insufficiently evaluated not reviewed unknown Array rs6312 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGGT2 Met994Leu M994L not reviewed Insufficiently evaluated not reviewed unknown Array rs12876018 3962 10756 0.368353 31 0 36 0 0 - - - - - - - - - - - - - - - - 0.903 - - -3 - 1 N - - UGGT2 Ser328Ala S328A not reviewed Insufficiently evaluated not reviewed unknown Array rs816142 9176 10746 0.853899 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C13ORF40 Lys6544Glu K6544E not reviewed Insufficiently evaluated not reviewed unknown Array rs9554897 1255 3234 0.388064 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C13ORF40 Leu6011Pro L6011P not reviewed Insufficiently evaluated not reviewed unknown Array rs6491707 3225 3234 0.997217 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C13ORF40 Phe5916Leu F5916L not reviewed Insufficiently evaluated not reviewed unknown Array rs7335290 3181 3234 0.983612 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C13ORF40 Arg5838Gln R5838Q not reviewed Insufficiently evaluated not reviewed unknown Array 435 3234 0.134508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C13ORF40 Asn5750Ser N5750S not reviewed Insufficiently evaluated not reviewed unknown Array rs7983175 3181 3234 0.983612 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C13ORF40 Arg5644Thr R5644T not reviewed Insufficiently evaluated not reviewed unknown Array rs7982465 3177 3234 0.982375 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C13ORF40 Ser4943Pro S4943P not reviewed Insufficiently evaluated not reviewed unknown Array rs9300758 3207 3234 0.991651 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C13ORF40 Ala4221Ser A4221S not reviewed Insufficiently evaluated not reviewed unknown Array 333 3234 0.102968 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C13ORF40 Val3805Ile V3805I not reviewed Insufficiently evaluated not reviewed unknown Array rs7322112 2421 3228 0.75 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C13ORF40 Lys3640Asn K3640N not reviewed Insufficiently evaluated not reviewed unknown Array 317 3234 0.098021 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C13ORF40 Asp3446Glu D3446E not reviewed Insufficiently evaluated not reviewed unknown Array 366 3232 0.113243 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C13ORF40 Thr3015Ile T3015I not reviewed Insufficiently evaluated not reviewed unknown Array rs1449707 2418 3232 0.748144 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C13ORF40 Thr2812Pro T2812P not reviewed Insufficiently evaluated not reviewed unknown Array rs9585986 2421 3232 0.749072 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C13ORF40 Gly2410Arg G2410R not reviewed Insufficiently evaluated not reviewed unknown Array rs1375720 3220 3232 0.996287 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C13ORF40 Glu2111Gln E2111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6491708 2420 3232 0.748762 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C13ORF40 Ala1822Pro A1822P not reviewed Insufficiently evaluated not reviewed unknown Array rs9582626 2421 3234 0.748609 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C13ORF40 Arg1070Ser R1070S not reviewed Insufficiently evaluated not reviewed unknown Array 460 3232 0.142327 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C13ORF40 Leu1005Pro L1005P not reviewed Insufficiently evaluated not reviewed unknown Array 467 3232 0.144493 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C13ORF40 Pro773Leu P773L not reviewed Insufficiently evaluated not reviewed unknown Array rs12583104 2482 3232 0.767946 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PNP Gly51Ser G51S not reviewed Insufficiently evaluated not reviewed unknown Array rs1049564 2158 10758 0.200595 20 0 22 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ARHGEF40 Val956Leu V956L not reviewed Insufficiently evaluated not reviewed unknown Array rs7143633 8701 10190 0.853876 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF40 Leu1189Ser L1189S not reviewed Insufficiently evaluated not reviewed unknown Array rs1958396 9950 10758 0.924893 54 0 102 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CHD8 Thr114Met T114M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHD8 Val58Met V58M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - OR10G2 Ala236Thr A236T not reviewed Insufficiently evaluated not reviewed unknown Array rs41307110 26 122 0.213115 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - ACIN1 Ala407Pro A407P not reviewed Insufficiently evaluated not reviewed unknown Array rs941719 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHRS4 Ile126Leu I126L not reviewed Insufficiently evaluated not reviewed unknown Array rs1043446 28 10756 0.0026032 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NYNRIN Ala978Thr A978T not reviewed Insufficiently evaluated not reviewed unknown Array rs8017377 3765 10714 0.351409 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KHNYN Trp270Leu W270L not reviewed Insufficiently evaluated not reviewed unknown Array rs7151995 10321 10758 0.959379 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLHDC2 Tyr247His Y247H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - -1 - 2 N - - NIN Gln1221Glu Q1221E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM9 Val338Ile V338I not reviewed Insufficiently evaluated not reviewed unknown Array rs61755582 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.877 - - -4 - 2 N - - KIAA0586 Leu1164Ser L1164S not reviewed Insufficiently evaluated not reviewed unknown Array 99 9640 0.0102697 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF38 Gly507Glu G507E not reviewed Insufficiently evaluated not reviewed unknown Array rs4261431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXD2 Gln518His Q518H not reviewed Insufficiently evaluated not reviewed unknown Array rs8007859 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SAMD15 Leu18Pro L18P not reviewed Insufficiently evaluated not reviewed unknown Array rs11844594 6319 10758 0.587377 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SAMD15 Lys370Glu K370E not reviewed Insufficiently evaluated not reviewed unknown Array rs4903576 6405 10758 0.595371 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SAMD15 Lys454Glu K454E not reviewed Insufficiently evaluated not reviewed unknown Array rs2193595 6317 10758 0.587191 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC24A4 Lys533Gln K533Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC24A4 Lys552Gln K552Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GLRX5 Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - -3 - 0 N - - PPP2R5C Ala531Pro A531P not reviewed Insufficiently evaluated not reviewed unknown Array 1572 10758 0.146124 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPP2R5C Ala546Pro A546P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Glu1513Ala E1513A not reviewed Insufficiently evaluated not reviewed unknown Array 2 9616 0.000207986 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - 3 - 1 N - - FAM189A1 Arg393His R393H not reviewed Insufficiently evaluated not reviewed unknown Array rs2256273 2279 3234 0.7047 47 0 66 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAN1 Gly233Glu G233E not reviewed Insufficiently evaluated not reviewed unknown Array rs4779794 3414 10758 0.317345 35 0 57 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - LOC100131244 Ser358Pro S358P not reviewed Insufficiently evaluated not reviewed unknown Array rs4924446 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGA Pro1523Ala P1523A not reviewed Insufficiently evaluated not reviewed unknown Array rs17677991 2970 9806 0.302876 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - STARD9 Met2416Val M2416V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STARD9 Arg2677His R2677H not reviewed Insufficiently evaluated not reviewed unknown Array rs8030587 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD9 Thr2855Ile T2855I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STARD9 Asn3383Asp N3383D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP1A Ala1752Val A1752V not reviewed Insufficiently evaluated not reviewed unknown Array rs45569034 177 9828 0.0180098 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR76 Ser89Ala S89A not reviewed Insufficiently evaluated not reviewed unknown Array rs678084 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEKHO2 Glu2Asp E2D not reviewed Insufficiently evaluated not reviewed unknown Array 50 5876 0.00850919 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - -2 - 1 N - - LCTL Ser31Pro S31P not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - NOX5 Leu345Phe L345F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOX5 Leu352Phe L352F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NOX5 Leu380Phe L380F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - SCAPER Phe1001Ser F1001S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SCAPER Phe1247Ser F1247S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ACAN Glu1508Ala E1508A not reviewed Insufficiently evaluated not reviewed unknown Array rs2882676 5471 9652 0.566826 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ACAN Ile1765Val I1765V not reviewed Insufficiently evaluated not reviewed unknown Array rs4932439 8498 9766 0.870162 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACAN Ile2079Val I2079V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042630 7151 9724 0.735397 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACAN Asp2335Glu D2335E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACAN Asp2373Glu D2373E not reviewed Insufficiently evaluated not reviewed unknown Array 2151 10698 0.201066 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ACAN Gln2500Arg Q2500R not reviewed Insufficiently evaluated not reviewed unknown Array rs1126823 4230 10596 0.399207 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLIN1 Pro194Ala P194A not reviewed Insufficiently evaluated not reviewed unknown Array rs6496589 10628 10758 0.987916 56 0 110 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - RGMA Asp399Glu D399E not reviewed Insufficiently evaluated not reviewed unknown Array rs4238485 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RGMA Asp423Glu D423E not reviewed Insufficiently evaluated not reviewed unknown Array rs4238485 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RGMA Leu4Pro L4P not reviewed Insufficiently evaluated not reviewed unknown Array rs4598860 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PGPEP1L Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs2715423 2093 10044 0.208383 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 1 N - - PGPEP1L Ala88Val A88V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PGPEP1L Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array rs2593051 551 750 0.734667 38 0 56 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - LINS Val406Met V406M not reviewed Insufficiently evaluated not reviewed unknown Array rs12719734 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHTF18 Arg164His R164H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745756 641 10182 0.0629542 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 1 N - - PRR25 Thr92Ser T92S not reviewed Insufficiently evaluated not reviewed unknown Array rs1005190 70 126 0.555556 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRR25 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array rs13333991 21 128 0.164062 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CACNA1H Thr1836Ala T1836A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1H Thr1842Ala T1842A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 1 - 2 N - - CRAMP1L Gly539Glu G539E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEFV Gly436Arg G436R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MEFV Asp424Glu D424E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - GLYR1 His459Gln H459Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2085329 128 128 1 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C16ORF89 Leu296Ser L296S not reviewed Insufficiently evaluated not reviewed unknown Array rs1127920 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SHISA9 Met196Thr M196T not reviewed Insufficiently evaluated not reviewed unknown Array rs9938751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHISA9 Ala232Gly A232G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COQ7 Thr65Met T65M not reviewed Insufficiently evaluated not reviewed unknown Array rs11074359 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL27 Glu166Asp E166D not reviewed Insufficiently evaluated not reviewed unknown Array 460 10412 0.0441798 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - SULT1A2 Ile7Thr I7T not reviewed Insufficiently evaluated not reviewed unknown Array rs1136703 475 10502 0.0452295 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP2A1 Glu429Asp E429D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF668 Val48Leu V48L not reviewed Insufficiently evaluated not reviewed unknown Array rs2032917 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS53 Pro406Ala P406A not reviewed Insufficiently evaluated not reviewed unknown Array rs7199949 4188 9904 0.422859 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CES5A Glu261Lys E261K not reviewed Insufficiently evaluated not reviewed unknown Array rs11076126 689 10758 0.0640454 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CES5A Glu290Lys E290K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS54 Ser182Gly S182G not reviewed Insufficiently evaluated not reviewed unknown Array rs3815803 6759 10758 0.628277 47 0 65 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 1 N - - CNOT1 Pro860Gln P860Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - HYDIN Phe4674Leu F4674L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYDIN Asn741Asp N741D not reviewed Insufficiently evaluated not reviewed unknown Array rs3817211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Asn751Asp N751D not reviewed Insufficiently evaluated not reviewed unknown Array rs3817211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Thr707Ala T707A not reviewed Insufficiently evaluated not reviewed unknown Array rs10744982 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HYDIN Thr717Ala T717A not reviewed Insufficiently evaluated not reviewed unknown Array rs10744982 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFHX3 Gln1100His Q1100H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SYCE1L Thr16Ala T16A not reviewed Insufficiently evaluated not reviewed unknown Array rs4888607 3210 3234 0.992579 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKD1L2 Thr799Ala T799A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MBTPS1 Val735Glu V735E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - SNAI3 Val7Met V7M not reviewed Insufficiently evaluated not reviewed unknown Array 24 10744 0.0022338 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - CTU2 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array rs4782321 1078 10746 0.100316 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM38A Ile2265Val I2265V not reviewed Insufficiently evaluated not reviewed unknown Array rs1803382 908 3224 0.281638 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM38A Pro1857Ser P1857S not reviewed Insufficiently evaluated not reviewed unknown Array rs35159887 886 3230 0.274303 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM38A Val394Leu V394L not reviewed Insufficiently evaluated not reviewed unknown Array rs6500493 2228 3218 0.692356 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM38A Ile83Thr I83T not reviewed Insufficiently evaluated not reviewed unknown Array rs6500495 2899 3232 0.896968 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PABPN1L Gly214Asp G214D not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.207 - - 4 Y 1 N - - CENPBD1 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array rs4785755 5331 7990 0.667209 48 0 73 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - WDR81 Pro652Leu P652L not reviewed Insufficiently evaluated not reviewed unknown Array rs57207396 612 3202 0.191131 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR81 Met1535Val M1535V not reviewed Insufficiently evaluated not reviewed unknown Array rs3809870 2513 10732 0.23416 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - WDR81 Met308Val M308V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR81 Met332Val M332V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR81 Met484Val M484V not reviewed Insufficiently evaluated not reviewed unknown Array rs3809870 20 102 0.196078 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINF2 Arg370Lys R370K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR1D5 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPATA22 Ile117Thr I117T not reviewed Insufficiently evaluated not reviewed unknown Array rs1488689 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATA22 Val105Met V105M not reviewed Insufficiently evaluated not reviewed unknown Array rs1488690 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAMTA2 Ala266Pro A266P not reviewed Insufficiently evaluated not reviewed unknown Array rs238234 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMTA2 Ala269Pro A269P not reviewed Insufficiently evaluated not reviewed unknown Array rs238234 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMTA2 Ala290Pro A290P not reviewed Insufficiently evaluated not reviewed unknown Array rs238234 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBTB4 Lys675Asn K675N not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - 1 - 1 N - - ALOXE3 Gln31His Q31H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ZNF286B Cys469Gly C469G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXW10 Thr982Ala T982A not reviewed Insufficiently evaluated not reviewed unknown Array rs1318979 652 9670 0.067425 15 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM18B1 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array rs61075345 8818 10758 0.819669 38 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LGALS9B Thr152Ala T152A not reviewed Insufficiently evaluated not reviewed unknown Array rs1812163 12 76 0.157895 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNJ18 Ile100Val I100V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNJ18 Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNJ18 Glu430Gly E430G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTRNR2L1 Ser12Leu S12L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTRNR2L1 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC37B Asp900Tyr D900Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1843084 3 118 0.0254237 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCT6B Gly202Ala G202A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCT6B Gly210Ala G210A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLFN12L Tyr518Ser Y518S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLFN12L Tyr383Cys Y383C not reviewed Insufficiently evaluated not reviewed unknown Array rs2304968 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLFN12L Ala373Gly A373G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLFN12L Ser228Leu S228L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF50 Asp110His D110H not reviewed Insufficiently evaluated not reviewed unknown Array 62 5260 0.0117871 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RDM1 Cys104Trp C104W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO19 Leu863Phe L863F not reviewed Insufficiently evaluated not reviewed unknown Array rs2306590 3022 9814 0.307927 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TADA2A Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array rs7211875 9501 10758 0.883157 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SRCIN1 Arg712His R712H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD3 Arg334His R334H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GSDMB Pro302Ser P302S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305480 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSDMB Pro311Ser P311S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305480 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSDMB Gly295Arg G295R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305479 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSDMB Gly304Arg G304R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305479 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSDMB Asp241Gly D241G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GSDMB Asp250Gly D250G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP9-1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NT5C3L Ser213Cys S213C not reviewed Insufficiently evaluated not reviewed unknown Array rs1046404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NT5C3L Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array rs1046403 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFI35 Met128Val M128V not reviewed Insufficiently evaluated not reviewed unknown Array rs588703 125 128 0.976562 53 0 103 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1267 Ile1084Thr I1084T not reviewed Insufficiently evaluated not reviewed unknown Array rs34579536 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC27 Pro181Ser P181S not reviewed Insufficiently evaluated not reviewed unknown Array 7 116 0.0603448 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - CDC27 Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array rs1058509 34 108 0.314815 22 0 29 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CDC27 Gln174Glu Q174E not reviewed Insufficiently evaluated not reviewed unknown Array rs1058505 46 76 0.605263 33 0 40 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - C17ORF57 Ile183Val I183V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C17ORF57 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array rs4968318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COX11 Ser228Ala S228A not reviewed Insufficiently evaluated not reviewed unknown Array rs1802212 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COX11 Val223Gly V223G not reviewed Insufficiently evaluated not reviewed unknown Array rs1802212 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SEPT4 Glu303Val E303V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAI2 Ala546Thr A546T not reviewed Insufficiently evaluated not reviewed unknown Array rs1979370 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - ACOX1 Ile274Met I274M not reviewed Insufficiently evaluated not reviewed unknown Array rs1135640 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - C17ORF99 Trp101Arg W101R not reviewed Insufficiently evaluated not reviewed unknown Array rs4071641 2035 3234 0.629252 53 0 87 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DNAH17 His3953Arg H3953R not reviewed Insufficiently evaluated not reviewed unknown Array rs12941494 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - DNAH17 Asp3227Asn D3227N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH17 Met1742Ile M1742I not reviewed Insufficiently evaluated not reviewed unknown Array rs690844 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH17 Arg1724Lys R1724K not reviewed Insufficiently evaluated not reviewed unknown Array rs930571 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DNAH17 Thr1511Ala T1511A not reviewed Insufficiently evaluated not reviewed unknown Array rs9896398 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH17 Ile963Thr I963T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.264 - - 3 - 1 N - - RNF213 Met270Thr M270T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Met319Thr M319T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Met321Thr M321T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Met370Thr M370T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Asn1094Asp N1094D not reviewed Insufficiently evaluated not reviewed unknown Array rs6565674 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF213 Gln1182Lys Q1182K not reviewed Insufficiently evaluated not reviewed unknown Array rs8082521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF213 Val1244Met V1244M not reviewed Insufficiently evaluated not reviewed unknown Array rs10782008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Glu1321Gln E1321Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9913636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF213 Asp1380Gly D1380G not reviewed Insufficiently evaluated not reviewed unknown Array rs8074015 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNF213 Asp1435Asn D1435N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF213 Ser2383Asn S2383N not reviewed Insufficiently evaluated not reviewed unknown Array rs9674961 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Ile3945Thr I3945T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM38B Val1354Ile V1354I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CEP192 Val1365Met V1365M not reviewed Insufficiently evaluated not reviewed unknown Array rs2282542 1355 10756 0.125976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 0 N - - CEP192 Arg1544His R1544H not reviewed Insufficiently evaluated not reviewed unknown Array rs7228940 1340 10758 0.124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CEP192 Ser1552Pro S1552P not reviewed Insufficiently evaluated not reviewed unknown Array rs578208 7385 10758 0.686466 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CEP192 Leu1701Phe L1701F not reviewed Insufficiently evaluated not reviewed unknown Array rs6505780 7651 10758 0.711192 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP192 Arg2115Gln R2115Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56913743 1358 10758 0.126232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CEP192 Leu2121Pro L2121P not reviewed Insufficiently evaluated not reviewed unknown Array rs474337 7655 10758 0.711563 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CEP192 Arg2449Leu R2449L not reviewed Insufficiently evaluated not reviewed unknown Array rs1786263 7775 10758 0.722718 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TRAPPC8 Thr1146Ala T1146A not reviewed Insufficiently evaluated not reviewed unknown Array rs3737374 3875 10756 0.360264 32 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRAPPC8 Leu137Ser L137S not reviewed Insufficiently evaluated not reviewed unknown Array rs6506948 124 124 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SKA1 Val91Ile V91I not reviewed Insufficiently evaluated not reviewed unknown Array rs6507992 7518 10758 0.698829 52 0 82 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PHLPP1 Glu777Asp E777D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DKFZP781G0119 Leu676Pro L676P not reviewed Insufficiently evaluated not reviewed unknown Array rs12606060 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM69C Gln405Arg Q405R not reviewed Insufficiently evaluated not reviewed unknown Array rs2278154 3505 9800 0.357653 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM69C Glu88Lys E88K not reviewed Insufficiently evaluated not reviewed unknown Array rs8087020 3201 3234 0.989796 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HSBP1L1 Lys55Asn K55N not reviewed Insufficiently evaluated not reviewed unknown Array rs2298645 2539 3234 0.785096 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RBFA Asn245His N245H not reviewed Insufficiently evaluated not reviewed unknown Array rs3744872 2916 10758 0.271054 27 0 33 0 0 - - - - - - - - - - - - - - - - 0.187 - - 0 - 0 N - - ADAMTSL5 Arg432His R432H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10748 0.00381466 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPPL2B Pro370Gln P370Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLIN4 Ala1124Thr A1124T not reviewed Insufficiently evaluated not reviewed unknown Array rs7251858 3078 10444 0.294715 28 0 32 0 0 - - - - - - - - - - - - - - - - 0.28 - - 1 - 0 N - - PLIN4 Lys860Asn K860N not reviewed Insufficiently evaluated not reviewed unknown Array rs7259721 6774 9824 0.689536 30 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLIN4 Ala826Val A826V not reviewed Insufficiently evaluated not reviewed unknown Array rs7255187 8834 10130 0.872063 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLIN4 Lys761Asn K761N not reviewed Insufficiently evaluated not reviewed unknown Array rs7256387 8447 10278 0.821853 35 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLIN4 Ser659Gly S659G not reviewed Insufficiently evaluated not reviewed unknown Array rs7260518 9049 10184 0.888551 50 0 94 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLIN4 Thr421Ala T421A not reviewed Insufficiently evaluated not reviewed unknown Array rs55901236 4348 10076 0.43152 31 0 43 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - PLIN4 Val124Ala V124A not reviewed Insufficiently evaluated not reviewed unknown Array rs4807597 9698 10038 0.966129 56 0 112 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - PLIN5 Cys255Arg C255R not reviewed Insufficiently evaluated not reviewed unknown Array rs1610090 8446 9170 0.921047 43 0 77 0 0 - - - - - - - - - - - - - - - - 0.031 - - 8 Y 0 N - - PLIN3 Val263Ala V263A not reviewed Insufficiently evaluated not reviewed unknown Array rs9973235 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN3 Val275Ala V275A not reviewed Insufficiently evaluated not reviewed unknown Array rs9973235 9405 10742 0.875535 46 0 84 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLIN3 Ile56Val I56V not reviewed Insufficiently evaluated not reviewed unknown Array rs8289 7575 10758 0.704127 47 0 67 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FLJ22184 Arg805Cys R805C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLJ22184 Ser641Pro S641P not reviewed Insufficiently evaluated not reviewed unknown Array rs525420 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF177 Ile455Phe I455F not reviewed Insufficiently evaluated not reviewed unknown Array rs2230752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LDLR Thr548Ile T548I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LDLR Thr558Ile T558I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LDLR Thr605Ile T605I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LDLR Thr685Ile T685I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ZNF878 His520Asp H520D not reviewed Insufficiently evaluated not reviewed unknown Array rs67102109 762 10718 0.0710954 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NWD1 Cys15Phe C15F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NWD1 Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array rs706764 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NWD1 Gln900Glu Q900E not reviewed Insufficiently evaluated not reviewed unknown Array rs773930 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - NWD1 Asn926Ile N926I not reviewed Insufficiently evaluated not reviewed unknown Array rs2608737 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NWD1 His935Arg H935R not reviewed Insufficiently evaluated not reviewed unknown Array rs2608738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTPBP3 Val272Ala V272A not reviewed Insufficiently evaluated not reviewed unknown Array rs3810206 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM221 Met284Thr M284T not reviewed Insufficiently evaluated not reviewed unknown Array rs4808641 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC13A Ala1133Ser A1133S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UNC13A Leu1034Pro L1034P not reviewed Insufficiently evaluated not reviewed unknown Array rs4239634 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC13A Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 His1065Arg H1065R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 His1111Arg H1111R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1683 His1298Arg H1298R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUGP2 Gly206Ser G206S not reviewed Insufficiently evaluated not reviewed unknown Array rs4808907 7835 10758 0.728295 51 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SUGP1 Arg290His R290H not reviewed Insufficiently evaluated not reviewed unknown Array rs17751061 1265 10758 0.117587 13 0 15 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 1 N - - ZNF737 Tyr369Cys Y369C not reviewed Insufficiently evaluated not reviewed unknown Array 219 3234 0.067718 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - ZNF208 Ser961Asn S961N not reviewed Insufficiently evaluated not reviewed unknown Array rs2214301 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PEPD Leu371Phe L371F not reviewed Insufficiently evaluated not reviewed unknown Array rs17570 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PEPD Leu394Phe L394F not reviewed Insufficiently evaluated not reviewed unknown Array rs17570 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.956 - - 0 - 2 N - - CD22 Gly568Asp G568D not reviewed Insufficiently evaluated not reviewed unknown Array rs10406069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD22 Gly657Asp G657D not reviewed Insufficiently evaluated not reviewed unknown Array rs10406069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DMKN Asp386Ala D386A not reviewed Insufficiently evaluated not reviewed unknown Array rs909072 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMKN Asp416Ala D416A not reviewed Insufficiently evaluated not reviewed unknown Array rs909072 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SBSN Ala419Gly A419G not reviewed Insufficiently evaluated not reviewed unknown Array rs10775583 1020 3234 0.315399 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF607 Lys530Arg K530R not reviewed Insufficiently evaluated not reviewed unknown Array rs958305 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF573 Met435Val M435V not reviewed Insufficiently evaluated not reviewed unknown Array rs3095726 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF573 Met521Val M521V not reviewed Insufficiently evaluated not reviewed unknown Array rs3095726 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF573 Met523Val M523V not reviewed Insufficiently evaluated not reviewed unknown Array rs3095726 106 128 0.828125 48 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF573 Arg401Trp R401W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF573 Arg487Trp R487W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF573 Arg489Trp R489W not reviewed Insufficiently evaluated not reviewed unknown Array rs11666245 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RINL Asn24Asp N24D not reviewed Insufficiently evaluated not reviewed unknown Array rs1001413 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MED29 Leu139Met L139M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LGALS16 Leu97His L97H not reviewed Insufficiently evaluated not reviewed unknown Array rs1860134 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCGBP Ser3840Asn S3840N not reviewed Insufficiently evaluated not reviewed unknown Array 2 72 0.0277778 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSG1 Asn61Ser N61S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC390940 His6Arg H6R not reviewed Insufficiently evaluated not reviewed unknown Array rs2682585 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLASRP Lys174Glu K174E not reviewed Insufficiently evaluated not reviewed unknown Array rs4803794 10755 10756 0.999907 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EML2 Leu334Phe L334F not reviewed Insufficiently evaluated not reviewed unknown Array rs7252175 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML2 Leu388Phe L388F not reviewed Insufficiently evaluated not reviewed unknown Array rs7252175 1503 10758 0.13971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EML2 Met180Val M180V not reviewed Insufficiently evaluated not reviewed unknown Array rs12151009 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML2 Met234Val M234V not reviewed Insufficiently evaluated not reviewed unknown Array rs12151009 1025 10758 0.0952779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DMPK Pro62Arg P62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - LOC645971 Val345Ala V345A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC645971 Pro367Thr P367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IRF3 Glu432Asp E432D not reviewed Insufficiently evaluated not reviewed unknown Array rs7251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IRF3 Ser154Thr S154T not reviewed Insufficiently evaluated not reviewed unknown Array rs7251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IRF3 Ser281Thr S281T not reviewed Insufficiently evaluated not reviewed unknown Array rs7251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IRF3 Ser300Thr S300T not reviewed Insufficiently evaluated not reviewed unknown Array rs7251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IRF3 Ser392Thr S392T not reviewed Insufficiently evaluated not reviewed unknown Array rs7251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBC1D17 Asp51Gly D51G not reviewed Insufficiently evaluated not reviewed unknown Array rs8109661 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TBC1D17 Leu66Pro L66P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NUP62 Thr138Ser T138S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - VSIG10L Arg592Gln R592Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34380065 1803 3204 0.562734 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - VSIG10L Asn3Thr N3T not reviewed Insufficiently evaluated not reviewed unknown Array rs10414211 1958 3234 0.605442 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SIGLEC10 Ala168Val A168V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC10 Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC6 Pro246Ser P246S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305772 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF610 Ala88Ser A88S not reviewed Insufficiently evaluated not reviewed unknown Array rs2241586 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF610 Arg173Pro R173P not reviewed Insufficiently evaluated not reviewed unknown Array rs321937 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF880 Arg198Ser R198S not reviewed Insufficiently evaluated not reviewed unknown Array rs8104808 1158 3234 0.35807 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF880 Asn202His N202H not reviewed Insufficiently evaluated not reviewed unknown Array rs8104812 1156 3234 0.357452 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF880 Arg257Gln R257Q not reviewed Insufficiently evaluated not reviewed unknown Array 195 7820 0.0249361 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF880 Lys471Arg K471R not reviewed Insufficiently evaluated not reviewed unknown Array rs55748277 1232 3234 0.380952 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF701 Asp9Tyr D9Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF701 Leu70Pro L70P not reviewed Insufficiently evaluated not reviewed unknown Array rs162832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF701 Thr182Ile T182I not reviewed Insufficiently evaluated not reviewed unknown Array rs366793 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF701 Thr337Lys T337K not reviewed Insufficiently evaluated not reviewed unknown Array rs373554 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF701 Arg495His R495H not reviewed Insufficiently evaluated not reviewed unknown Array rs67702454 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF28 Met524Thr M524T not reviewed Insufficiently evaluated not reviewed unknown Array rs8107444 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF28 Lys465Gln K465Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10417163 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - -2 - 0 N - - ZNF816 Ile80Asn I80N not reviewed Insufficiently evaluated not reviewed unknown Array rs12459008 5028 10758 0.467373 36 0 53 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF347 Asn265Asp N265D not reviewed Insufficiently evaluated not reviewed unknown Array rs2195310 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VN1R4 Tyr5Asn Y5N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VN1R4 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 6 Y 0 N - - LOC646508 Gln434Arg Q434R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA1 Val387Leu V387L not reviewed Insufficiently evaluated not reviewed unknown Array 436 10758 0.040528 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NLRP2 Thr506Ala T506A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NLRP2 Thr507Ala T507A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRH Lys645Glu K645E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRH Leu365Phe L365F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRH His170Tyr H170Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM150B Leu199Phe L199F not reviewed Insufficiently evaluated not reviewed unknown Array rs7246479 6866 10618 0.646638 43 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SSC5D Leu976Pro L976P not reviewed Insufficiently evaluated not reviewed unknown Array rs671542 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSC5D Gly1536Glu G1536E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF548 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array rs4801478 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAF1B Ser463Leu S463L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - 6 Y 1 N - - KLHL29 Leu790Pro L790P not reviewed Insufficiently evaluated not reviewed unknown Array rs3795948 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MFSD2B Leu170Pro L170P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.554 - - 7 Y 1 N - - CGREF1 Gly61Ser G61S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF28 Asp5Gly D5G not reviewed Insufficiently evaluated not reviewed unknown Array rs1275533 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLB1 Val223Leu V223L not reviewed Insufficiently evaluated not reviewed unknown Array rs6753929 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PLB1 His868Asp H868D not reviewed Insufficiently evaluated not reviewed unknown Array rs7601771 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLB1 Ala1307Val A1307V not reviewed Insufficiently evaluated not reviewed unknown Array rs2199619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC27 Arg475His R475H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTBP1 Ser1266Phe S1266F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTBP1 Ser887Phe S887F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTBP1 Ser940Phe S940F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTBP1 Val1010Ala V1010A not reviewed Insufficiently evaluated not reviewed unknown Array rs4422143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Val1052Ala V1052A not reviewed Insufficiently evaluated not reviewed unknown Array rs4422143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Val1378Ala V1378A not reviewed Insufficiently evaluated not reviewed unknown Array rs4422143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Val957Ala V957A not reviewed Insufficiently evaluated not reviewed unknown Array rs4422143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Val999Ala V999A not reviewed Insufficiently evaluated not reviewed unknown Array rs4422143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FSHR Ser654Asn S654N not reviewed Insufficiently evaluated not reviewed unknown Array rs6166 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FSHR Ala281Thr A281T not reviewed Insufficiently evaluated not reviewed unknown Array rs6165 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SLC1A4 Val101Ile V101I not reviewed Insufficiently evaluated not reviewed unknown Array rs759458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGAP25 Met517Thr M517T not reviewed Insufficiently evaluated not reviewed unknown Array rs10177248 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP25 Met550Thr M550T not reviewed Insufficiently evaluated not reviewed unknown Array rs10177248 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP25 Met557Thr M557T not reviewed Insufficiently evaluated not reviewed unknown Array rs10177248 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD207 Phe317Ser F317S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 5 Y 2 N - - SFTPB His2Pro H2P not reviewed Insufficiently evaluated not reviewed unknown Array rs2077079 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - THNSL2 Gln297Lys Q297K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ITPRIPL1 Thr455Met T455M not reviewed Insufficiently evaluated not reviewed unknown Array rs2279105 3277 10758 0.304611 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM178B Pro242Ala P242A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM178B Ile99Met I99M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM178B Val55Ala V55A not reviewed Insufficiently evaluated not reviewed unknown Array rs1730120 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD36 Pro1126Gln P1126Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10171441 2793 3230 0.864706 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ANKRD36B Glu483Gly E483G not reviewed Insufficiently evaluated not reviewed unknown Array rs1839230 1617 8708 0.185691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AFF3 Gln400Lys Q400K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.536 - - -2 - 1 N - - AFF3 Gln425Lys Q425K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFX8 Met412Thr M412T not reviewed Insufficiently evaluated not reviewed unknown Array rs2175968 1692 3234 0.523191 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RFX8 Gln53Leu Q53L not reviewed Insufficiently evaluated not reviewed unknown Array rs4851436 3118 3234 0.964131 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DPP10 Ala290Pro A290P not reviewed Insufficiently evaluated not reviewed unknown Array rs2053724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPP10 Ala336Pro A336P not reviewed Insufficiently evaluated not reviewed unknown Array rs2053724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPP10 Ala344Pro A344P not reviewed Insufficiently evaluated not reviewed unknown Array rs2053724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPP10 Val351Ile V351I not reviewed Insufficiently evaluated not reviewed unknown Array rs1446495 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DPP10 Val397Ile V397I not reviewed Insufficiently evaluated not reviewed unknown Array rs1446495 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DPP10 Val405Ile V405I not reviewed Insufficiently evaluated not reviewed unknown Array rs1446495 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DBI Ala30Val A30V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DBI Ala49Val A49V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MZT2A Arg136His R136H not reviewed Insufficiently evaluated not reviewed unknown Array rs11553182 2097 10750 0.19507 21 0 27 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - MZT2A His127Arg H127R not reviewed Insufficiently evaluated not reviewed unknown Array rs75021268 2137 10758 0.198643 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NCKAP5 Pro1224Ser P1224S not reviewed Insufficiently evaluated not reviewed unknown Array rs72847214 109 9956 0.0109482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCKAP5 Ile977Thr I977T not reviewed Insufficiently evaluated not reviewed unknown Array rs12691830 5924 9678 0.61211 53 0 86 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NCKAP5 Val937Ile V937I not reviewed Insufficiently evaluated not reviewed unknown Array rs12611515 3326 9826 0.33849 27 0 37 0 0 - - - - - - - - - - - - - - - - 0.36 - - -4 - 0 N - - ORC4 Asn4Ser N4S not reviewed Insufficiently evaluated not reviewed unknown Array rs2307394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORC4 Asn78Ser N78S not reviewed Insufficiently evaluated not reviewed unknown Array rs2307394 3349 10700 0.312991 30 0 41 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - MMADHC Lys29Asn K29N not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y 1 - 2 N - - RIF1 Leu2392Val L2392V not reviewed Insufficiently evaluated not reviewed unknown Array rs1065177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEB Ile8402Val I8402V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061305 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - NEB Ala8145Pro A8145P not reviewed Insufficiently evaluated not reviewed unknown Array rs7575451 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NEB Arg6102Thr R6102T not reviewed Insufficiently evaluated not reviewed unknown Array rs2288210 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NEB Ala4223Thr A4223T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NEB Cys3042Arg C3042R not reviewed Insufficiently evaluated not reviewed unknown Array rs6710212 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CCDC148 Lys243Arg K243R not reviewed Insufficiently evaluated not reviewed unknown Array rs7559772 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCN1A Ala1039Thr A1039T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SCN1A Ala1067Thr A1067T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NOSTRIN Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOSTRIN Gly445Glu G445E not reviewed Insufficiently evaluated not reviewed unknown Array rs479661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NOSTRIN Gly530Glu G530E not reviewed Insufficiently evaluated not reviewed unknown Array rs479661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTC30A Pro279His P279H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742858 1691 10758 0.157185 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - TTN Ala21902Val A21902V not reviewed Insufficiently evaluated not reviewed unknown Array rs11694623 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala22027Val A22027V not reviewed Insufficiently evaluated not reviewed unknown Array rs11694623 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala22094Val A22094V not reviewed Insufficiently evaluated not reviewed unknown Array rs11694623 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala28399Val A28399V not reviewed Insufficiently evaluated not reviewed unknown Array rs11694623 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SESTD1 Ser391Ala S391A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -1 - 2 N - - FSIP2 Arg1377Gln R1377Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10931199 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Gln2530Lys Q2530K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSIP2 Met5057Val M5057V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Glu5446Asp E5446D not reviewed Insufficiently evaluated not reviewed unknown Array rs7576532 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSIP2 Ile5738Thr I5738T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSIP2 Thr6972Ala T6972A not reviewed Insufficiently evaluated not reviewed unknown Array rs1468999 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TFPI Pro179Leu P179L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL3A1 Pro602Thr P602T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - COL5A2 Pro460Ser P460S benign Low clinical importance, Uncertain benign unknown Array rs35830636 431 10758 0.0400632 3 0 3 0 0 0 Y - - 1 Y - - - - - - Y - - - 0.966 Y Y 3 - 4 N 0 0 Tentatively benign. Although predicted to be damaging by Polyphen 2, this variant is seen in 2 out of 62 PGP & public genomes. OMIM lists other more disruptive variants (frameshift & nonsense) as reported to cause Ehlers-Danlos syndrome when homozygous. ANKAR Leu1077Phe L1077F not reviewed Insufficiently evaluated not reviewed unknown Array rs1225090 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH7 Thr2114Ala T2114A not reviewed Insufficiently evaluated not reviewed unknown Array 319 9456 0.0337352 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.894 - - 1 - 2 N - - ANKRD44 Ile94Met I94M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALS2CR11 Cys1039Gly C1039G not reviewed Insufficiently evaluated not reviewed unknown Array rs2714482 3209 3216 0.997823 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RUFY4 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - CHPF Gln209Arg Q209R not reviewed Insufficiently evaluated not reviewed unknown Array rs6436155 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SP110 Met529Thr M529T not reviewed Insufficiently evaluated not reviewed unknown Array rs1135791 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SP110 Leu431Ser L431S not reviewed Insufficiently evaluated not reviewed unknown Array rs3948464 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SP110 Gly305Arg G305R not reviewed Insufficiently evaluated not reviewed unknown Array rs1365776 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SP110 Ala212Val A212V not reviewed Insufficiently evaluated not reviewed unknown Array rs28930679 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SP110 Trp118Arg W118R not reviewed Insufficiently evaluated not reviewed unknown Array rs1129411 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - LOC646960 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array rs1550094 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC646960 Pro599Ala P599A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNJ13 Thr95Ile T95I not reviewed Insufficiently evaluated not reviewed unknown Array rs1801251 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATG16L1 Thr137Ala T137A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.288 - - 1 - 1 N - - ATG16L1 Thr184Ala T184A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.269 - - 1 - 1 N - - ATG16L1 Thr216Ala T216A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL6A3 Ala2405Pro A2405P not reviewed Insufficiently evaluated not reviewed unknown Array rs2270669 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Met2320Thr M2320T not reviewed Insufficiently evaluated not reviewed unknown Array rs6728818 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GPR35 Arg13His R13H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR35 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array rs3749171 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEU4 Gly301Arg G301R not reviewed Insufficiently evaluated not reviewed unknown Array rs11545301 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEU4 Gly314Arg G314R not reviewed Insufficiently evaluated not reviewed unknown Array rs11545301 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLK1S1 His139Gln H139Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4815025 5728 9748 0.587608 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLK1S1 His36Gln H36Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4815025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLK1S1 His6Gln H6Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4815025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLK1S1 Met103Thr M103T not reviewed Insufficiently evaluated not reviewed unknown Array rs2236178 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLK1S1 Met133Thr M133T not reviewed Insufficiently evaluated not reviewed unknown Array rs2236178 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLK1S1 Met236Thr M236T not reviewed Insufficiently evaluated not reviewed unknown Array rs2236178 6830 9962 0.685605 49 0 73 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SUN5 Glu39Asp E39D not reviewed Insufficiently evaluated not reviewed unknown Array rs1133358 2579 10758 0.239729 23 0 23 0 0 - - - - - - - - - - - - - - - - 0.6 - - -2 - 0 N - - ROMO1 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DBNDD2 Met192Val M192V not reviewed Insufficiently evaluated not reviewed unknown Array rs1127497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DBNDD2 Met196Val M196V not reviewed Insufficiently evaluated not reviewed unknown Array rs1127497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIGT Asp155Ala D155A not reviewed Insufficiently evaluated not reviewed unknown Array rs61753669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PIGT Asp201Ala D201A not reviewed Insufficiently evaluated not reviewed unknown Array rs61753669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMPRSS15 Pro732Ser P732S not reviewed Insufficiently evaluated not reviewed unknown Array rs2824721 8111 10756 0.754091 51 0 80 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TMPRSS15 Glu134Gln E134Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2824790 2924 10758 0.271798 27 0 34 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - LTN1 Gly611Cys G611C not reviewed Insufficiently evaluated not reviewed unknown Array 1473 10758 0.136921 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LTN1 Ser573Gly S573G not reviewed Insufficiently evaluated not reviewed unknown Array 1036 10756 0.0963183 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LTN1 Leu449Ser L449S not reviewed Insufficiently evaluated not reviewed unknown Array rs2254796 6914 10756 0.642804 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRDM15 Gly124Asp G124D not reviewed Insufficiently evaluated not reviewed unknown Array 811 9748 0.0831966 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRODH Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array rs450046 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DGCR2 Val429Ala V429A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072123 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGCR2 Val432Ala V432A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072123 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGCR2 Val470Ala V470A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072123 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC7A4 Ala487Val A487V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC28 Ala2424Gly A2424G not reviewed Insufficiently evaluated not reviewed unknown Array 165 3234 0.0510204 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - AP1B1 Thr750Ala T750A not reviewed Insufficiently evaluated not reviewed unknown Array rs2857465 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC730005 Arg145Lys R145K not reviewed Insufficiently evaluated not reviewed unknown Array rs5749118 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC730005 Gln43Arg Q43R not reviewed Insufficiently evaluated not reviewed unknown Array rs5753190 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCN2 Arg232Pro R232P not reviewed Insufficiently evaluated not reviewed unknown Array rs1801198 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TCN2 Ser321Phe S321F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C22ORF33 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array 575 3234 0.177798 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C22ORF33 Ala56Ser A56S not reviewed Insufficiently evaluated not reviewed unknown Array 582 3234 0.179963 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GCAT Leu77Ser L77S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF46 Trp125Arg W125R not reviewed Insufficiently evaluated not reviewed unknown Array rs739134 2660 3234 0.822511 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PNPLA5 Trp172Arg W172R not reviewed Insufficiently evaluated not reviewed unknown Array rs739231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRR5-ARHGAP8 Gly424Arg G424R not reviewed Insufficiently evaluated not reviewed unknown Array rs6007344 2345 10758 0.217977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRR5-ARHGAP8 Pro509Arg P509R not reviewed Insufficiently evaluated not reviewed unknown Array rs9614957 999 10758 0.0928611 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MOV10L1 Ile434Leu I434L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPP6R2 Arg705Lys R705K not reviewed Insufficiently evaluated not reviewed unknown Array rs13057311 2431 10756 0.226013 27 0 30 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PPP6R2 Ala848Thr A848T not reviewed Insufficiently evaluated not reviewed unknown Array rs56269507 208 10720 0.019403 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17RE Gly473Arg G473R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAND2 Val77Ala V77A not reviewed Insufficiently evaluated not reviewed unknown Array rs11718898 2309 3234 0.713977 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CAND2 Gln408Arg Q408R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305398 7453 10402 0.716497 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CAND2 Pro476Leu P476L not reviewed Insufficiently evaluated not reviewed unknown Array rs2305397 4709 10168 0.46312 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - CAND2 Ser533Pro S533P not reviewed Insufficiently evaluated not reviewed unknown Array rs3732675 7065 10306 0.685523 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAND2 His858Pro H858P not reviewed Insufficiently evaluated not reviewed unknown Array rs3732678 7108 10212 0.696044 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CAND2 Val990Ile V990I not reviewed Insufficiently evaluated not reviewed unknown Array rs3817121 1317 10556 0.124763 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.192 - - -4 - 0 N - - CAND2 Ala1225Thr A1225T not reviewed Insufficiently evaluated not reviewed unknown Array rs12629133 5318 9864 0.539132 4 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C3ORF20 Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array rs17040196 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF20 Ile285Val I285V not reviewed Insufficiently evaluated not reviewed unknown Array rs6765537 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C3ORF20 Leu300Val L300V not reviewed Insufficiently evaluated not reviewed unknown Array rs6790129 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SATB1 Asp740Val D740V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDCD6IP Ala314Thr A314T not reviewed Insufficiently evaluated not reviewed unknown Array rs3792594 2978 10758 0.276817 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDCD6IP Val383Ile V383I not reviewed Insufficiently evaluated not reviewed unknown Array rs3203777 3449 10758 0.320599 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PDCD6IP Ser735Leu S735L not reviewed Insufficiently evaluated not reviewed unknown Array 1680 10758 0.156163 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GOLGA4 Gln1050Lys Q1050K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GOLGA4 Met1815Lys M1815K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYD88 Ser174Cys S174C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYD88 Ser219Cys S219C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC21A Arg1268Lys R1268K not reviewed Insufficiently evaluated not reviewed unknown Array rs704959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CX3CR1 Phe8Leu F8L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HHATL Val256Leu V256L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM198A Gln460Arg Q460R not reviewed Insufficiently evaluated not reviewed unknown Array rs536119 1838 3234 0.568336 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF77 Cys43Arg C43R not reviewed Insufficiently evaluated not reviewed unknown Array rs9833423 2662 3222 0.826195 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C3ORF77 Pro88Gln P88Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7645375 2648 3234 0.8188 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C3ORF77 Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array rs9284879 1379 3226 0.427464 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TDGF1 Val6Ala V6A not reviewed Insufficiently evaluated not reviewed unknown Array rs11130097 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100132146 His33Arg H33R not reviewed Insufficiently evaluated not reviewed unknown Array rs9832679 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDHR4 Thr291Met T291M not reviewed Insufficiently evaluated not reviewed unknown Array rs73079003 332 3234 0.102659 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C3ORF18 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs1034405 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POC1A Val47Leu V47L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POC1A Val85Leu V85L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.909 - - 0 - 2 N - - NEK4 Pro136Ala P136A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITIH1 Glu297Val E297V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITIH1 Glu443Val E443V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITIH1 Gln307Arg Q307R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH1 Gln453Arg Q453R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATXN7 Lys119Arg K119R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ATXN7 Val717Met V717M not reviewed Insufficiently evaluated not reviewed unknown Array rs3774729 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - EBLN2 Ser46Pro S46P not reviewed Insufficiently evaluated not reviewed unknown Array rs2231924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EBLN2 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs2231926 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EBLN2 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array rs1060584 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR52 Ser1835Gly S1835G not reviewed Insufficiently evaluated not reviewed unknown Array rs2291905 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR52 Thr1717Met T1717M not reviewed Insufficiently evaluated not reviewed unknown Array rs2270781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR52 His1657Arg H1657R not reviewed Insufficiently evaluated not reviewed unknown Array rs4682484 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP31 Gly803Ser G803S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732413 8033 9694 0.828657 56 0 98 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GPR156 Glu512Asp E512D not reviewed Insufficiently evaluated not reviewed unknown Array rs902790 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASR Glu1021Gln E1021Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1801726 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ALG1L Ser159Leu S159L not reviewed Insufficiently evaluated not reviewed unknown Array rs3187711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALG1L Asn155Asp N155D not reviewed Insufficiently evaluated not reviewed unknown Array rs3828357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALG1L Leu9Pro L9P not reviewed Insufficiently evaluated not reviewed unknown Array rs7633797 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - TMCC1 Pro131Gln P131Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMCC1 Pro17Gln P17Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL6A5 Thr1280Pro T1280P not reviewed Insufficiently evaluated not reviewed unknown Array rs12488457 1928 3234 0.596166 23 0 35 0 0 - - - - - - - - - - - - - - - - 0.93 - - 4 Y 1 N - - COL6A5 Cys1477Ser C1477S not reviewed Insufficiently evaluated not reviewed unknown Array rs1497312 2217 3234 0.685529 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COL6A5 Ser1589Pro S1589P not reviewed Insufficiently evaluated not reviewed unknown Array rs16827497 2223 3234 0.687384 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COL6A5 Gln2188Arg Q2188R not reviewed Insufficiently evaluated not reviewed unknown Array rs9883988 8580 9602 0.893564 53 0 91 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - COL6A5 Gly2205Asp G2205D not reviewed Insufficiently evaluated not reviewed unknown Array rs819085 8644 9428 0.916843 55 0 97 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PCCB Cys311Tyr C311Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ESYT3 Asp430Asn D430N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732466 320 10758 0.0297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ESYT3 Gly590Arg G590R not reviewed Insufficiently evaluated not reviewed unknown Array rs10935282 3342 10016 0.333666 28 0 33 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - PLSCR4 Asn19Ser N19S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF10 Asp593Asn D593N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGSF10 Asp641Asn D641N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLF1 Pro158Thr P158T not reviewed Insufficiently evaluated not reviewed unknown Array rs15967 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MLF1 Pro216Thr P216T not reviewed Insufficiently evaluated not reviewed unknown Array rs15967 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MLF1 Pro257Thr P257T not reviewed Insufficiently evaluated not reviewed unknown Array rs15967 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MFSD1 Ile230Val I230V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MFSD1 Ile269Val I269V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - IFT80 Thr449Ser T449S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MECOM Pro120Ser P120S not reviewed Insufficiently evaluated not reviewed unknown Array rs7622799 1130 9650 0.117098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LRRC34 Leu254Ile L254I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - LRRC34 Leu286Ile L286I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC34 Ser249Gly S249G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HTR3D Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36092077 588 3234 0.181818 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - HTR3D Arg225His R225H not reviewed Insufficiently evaluated not reviewed unknown Array rs1000952 7531 10758 0.700037 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.226 - - 1 - 0 N - - HTR3D Arg435His R435H not reviewed Insufficiently evaluated not reviewed unknown Array rs6789754 7051 10758 0.655419 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.245 - - 1 - 0 N - - EIF4G1 Thr168Ala T168A not reviewed Insufficiently evaluated not reviewed unknown Array rs13319149 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EIF4G1 Met439Val M439V not reviewed Insufficiently evaluated not reviewed unknown Array rs2178403 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCN2 Thr624Ser T624S not reviewed Insufficiently evaluated not reviewed unknown Array rs9820367 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CLCN2 Thr651Ser T651S not reviewed Insufficiently evaluated not reviewed unknown Array rs9820367 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TMEM44 Gln284Arg Q284R not reviewed Insufficiently evaluated not reviewed unknown Array rs922282 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM44 Arg232His R232H not reviewed Insufficiently evaluated not reviewed unknown Array rs12695036 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FYTTD1 Arg61His R61H not reviewed Insufficiently evaluated not reviewed unknown Array rs3205525 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF212 Ile262Val I262V not reviewed Insufficiently evaluated not reviewed unknown Array rs1670534 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM129 Ser329Gly S329G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 2 - 2 N - - LOC402160 Cys253Arg C253R not reviewed Insufficiently evaluated not reviewed unknown Array rs3108494 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LOC402160 Arg513His R513H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC402160 His527Arg H527R not reviewed Insufficiently evaluated not reviewed unknown Array rs3135152 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIP2 Ala289Val A289V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OTOP1 Ala315Thr A315T not reviewed Insufficiently evaluated not reviewed unknown Array 12 84 0.142857 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OTOP1 Ser308Pro S308P not reviewed Insufficiently evaluated not reviewed unknown Array 10 84 0.119048 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OTOP1 Ser206Leu S206L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 26 0 26 0 0 - - - - - - - - - - - - - - - - 0.17 - - 6 Y 0 N - - OTOP1 Gly153Arg G153R not reviewed Insufficiently evaluated not reviewed unknown Array 15 84 0.178571 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 1 N - - OTOP1 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZBTB49 Tyr320Ser Y320S not reviewed Insufficiently evaluated not reviewed unknown Array rs2920217 2636 10758 0.245027 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZBTB49 Ala642Val A642V not reviewed Insufficiently evaluated not reviewed unknown Array rs34293093 429 10758 0.0398773 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF23 Arg352Gly R352G not reviewed Insufficiently evaluated not reviewed unknown Array rs1880024 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC650293 Phe195Leu F195L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM200B Asp2His D2H not reviewed Insufficiently evaluated not reviewed unknown Array rs2302469 337 3206 0.105115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM200B Ser443Asn S443N not reviewed Insufficiently evaluated not reviewed unknown Array rs4235380 949 3228 0.29399 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM200B His545Asn H545N not reviewed Insufficiently evaluated not reviewed unknown Array rs6449160 3196 3232 0.988861 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LCORL Tyr336His Y336H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -1 - 0 N - - SLC34A2 Asp633Gly D633G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DTHD1 Val14Asp V14D not reviewed Insufficiently evaluated not reviewed unknown Array rs1995319 3003 3234 0.928571 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DTHD1 Val179Asp V179D not reviewed Insufficiently evaluated not reviewed unknown Array rs1995319 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TLR10 Ile355Leu I355L not reviewed Insufficiently evaluated not reviewed unknown Array rs11096955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TLR10 Asn227His N227H not reviewed Insufficiently evaluated not reviewed unknown Array rs11096957 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APBB2 Asn188Ser N188S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APBB2 Asn736Ser N736S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - APBB2 Asn737Ser N737S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APBB2 Leu23Val L23V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APBB2 Leu571Val L571V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.867 - - 0 - 2 N - - APBB2 Leu572Val L572V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CWH43 His689Asn H689N not reviewed Insufficiently evaluated not reviewed unknown Array rs1051447 6007 10582 0.567662 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMPRSS11BNL Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array rs4463136 2372 3234 0.733457 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PARM1 Ser127Leu S127L not reviewed Insufficiently evaluated not reviewed unknown Array rs3822109 4048 10452 0.387294 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - FRAS1 Glu1136Lys E1136K not reviewed Insufficiently evaluated not reviewed unknown Array rs12512164 2282 9692 0.235452 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - FRAS1 Lys2378Glu K2378E not reviewed Insufficiently evaluated not reviewed unknown Array rs7684722 10233 10566 0.968484 4 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - FRAS1 Val3566Ile V3566I not reviewed Insufficiently evaluated not reviewed unknown Array rs931606 5171 9654 0.535633 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - LIN54 Leu142Phe L142F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIN54 Leu363Phe L363F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPNT Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array rs4340795 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NPNT Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs4340795 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBCK Gln203Glu Q203E not reviewed Insufficiently evaluated not reviewed unknown Array rs3775091 127 128 0.992188 53 0 105 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TBCK Gln227Glu Q227E not reviewed Insufficiently evaluated not reviewed unknown Array rs3775091 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBCK Gln266Glu Q266E not reviewed Insufficiently evaluated not reviewed unknown Array rs3775091 10757 10758 0.999907 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TBCK Pro51Ala P51A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 2 - 2 N - - EGF Glu878Val E878V not reviewed Insufficiently evaluated not reviewed unknown Array rs4698803 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C4ORF21 Ser1568Leu S1568L not reviewed Insufficiently evaluated not reviewed unknown Array rs17605622 803 10748 0.0747116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLK4 Ser191Thr S191T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLK4 Ser200Thr S200T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLK4 Glu789Asp E789D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - PLK4 Glu798Asp E798D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LARP1B Pro462Arg P462R not reviewed Insufficiently evaluated not reviewed unknown Array rs12508837 6396 10758 0.594534 40 0 60 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 1 N - - LARP1B Arg660His R660H not reviewed Insufficiently evaluated not reviewed unknown Array rs12645577 6194 10758 0.575758 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PABPC4L Ile134Val I134V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FREM3 Phe1073Leu F1073L not reviewed Insufficiently evaluated not reviewed unknown Array rs1034494 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRBA Ile724Val I724V not reviewed Insufficiently evaluated not reviewed unknown Array rs72719663 258 10758 0.0239822 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRSS48 Cys53Tyr C53Y not reviewed Insufficiently evaluated not reviewed unknown Array rs36097019 43 128 0.335938 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRSS48 Arg290Cys R290C not reviewed Insufficiently evaluated not reviewed unknown Array rs13126069 43 128 0.335938 30 0 36 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - WDR17 Ala1256Thr A1256T not reviewed Insufficiently evaluated not reviewed unknown Array rs11736872 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLDN24 Leu18Phe L18F not reviewed Insufficiently evaluated not reviewed unknown Array rs7688467 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RWDD4 Ile124Leu I124L not reviewed Insufficiently evaluated not reviewed unknown Array rs10015804 2434 10754 0.226334 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DROSHA Ser321Leu S321L not reviewed Insufficiently evaluated not reviewed unknown Array rs55656741 1935 4910 0.394094 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PDZD2 Ala2700Ser A2700S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - UGT3A1 Trp251Arg W251R not reviewed Insufficiently evaluated not reviewed unknown Array rs1070895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RICTOR Ser221Arg S221R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - CDC20B Arg503Trp R503W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CDC20B Ser496Ala S496A not reviewed Insufficiently evaluated not reviewed unknown Array rs3104230 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CWC27 Pro256Ala P256A not reviewed Insufficiently evaluated not reviewed unknown Array rs7735338 3584 10492 0.341594 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MAST4 Arg1624Pro R1624P not reviewed Insufficiently evaluated not reviewed unknown Array rs1705399 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD31 Thr1566Arg T1566R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD31 Asp702Asn D702N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APC Val1804Asp V1804D not reviewed Insufficiently evaluated not reviewed unknown Array rs459552 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - AQPEP Leu689Phe L689F not reviewed Insufficiently evaluated not reviewed unknown Array rs10078759 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM170A Pro126Ser P126S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC728460 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP120 Leu576Val L576V not reviewed Insufficiently evaluated not reviewed unknown Array rs6595440 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAPGEF6 Gln1460Arg Q1460R not reviewed Insufficiently evaluated not reviewed unknown Array rs1291602 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAPGEF6 Gln1465Arg Q1465R not reviewed Insufficiently evaluated not reviewed unknown Array rs1291602 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRD8 Thr493Met T493M not reviewed Insufficiently evaluated not reviewed unknown Array rs11750814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHA7 Ser679Trp S679W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHB16 Ser532Gly S532G not reviewed Insufficiently evaluated not reviewed unknown Array rs61743494 113 8808 0.0128292 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHB10 Leu660Val L660V not reviewed Insufficiently evaluated not reviewed unknown Array rs17844596 155 10084 0.0153709 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF37 Met421Leu M421L not reviewed Insufficiently evaluated not reviewed unknown Array rs4629585 3771 10454 0.360723 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PPARGC1B Arg201Gln R201Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPARGC1B Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIPAL4 Arg194Gly R194G not reviewed Insufficiently evaluated not reviewed unknown Array rs6860507 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FAM196B Ser230Arg S230R not reviewed Insufficiently evaluated not reviewed unknown Array rs17646221 1714 3234 0.529994 34 0 44 0 0 - - - - - - - - - - - - - - - - 0.65 - - 3 - 0 N - - C5ORF58 Arg26Pro R26P not reviewed Insufficiently evaluated not reviewed unknown Array rs957998 4655 9406 0.494897 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CDHR2 Leu766Pro L766P not reviewed Insufficiently evaluated not reviewed unknown Array rs752138 373 10758 0.0346719 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM193B Ser736Pro S736P not reviewed Insufficiently evaluated not reviewed unknown Array rs337382 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFP62 Arg665Lys R665K not reviewed Insufficiently evaluated not reviewed unknown Array rs168726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFP62 Arg698Lys R698K not reviewed Insufficiently evaluated not reviewed unknown Array rs168726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFP62 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs705441 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -1 - 1 N - - ZFP62 Met34Ile M34I not reviewed Insufficiently evaluated not reviewed unknown Array rs705441 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CAGE1 Glu282Ala E282A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - JARID2 Leu968Met L968M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - -3 - 2 N - - KIAA0319 Thr133Pro T133P not reviewed Insufficiently evaluated not reviewed unknown Array rs4576240 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0319 Thr97Pro T97P not reviewed Insufficiently evaluated not reviewed unknown Array rs4576240 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRRC16A Gly1202Ser G1202S not reviewed Insufficiently evaluated not reviewed unknown Array rs1012899 3521 4586 0.767771 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POM121L2 Gly850Ser G850S not reviewed Insufficiently evaluated not reviewed unknown Array rs6456773 3176 3234 0.982066 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - POM121L2 Gly644Cys G644C not reviewed Insufficiently evaluated not reviewed unknown Array 635 3234 0.196351 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - POM121L2 Gln33Arg Q33R not reviewed Insufficiently evaluated not reviewed unknown Array rs2235233 629 3234 0.194496 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MOG Val55Leu V55L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOG Ile58Val I58V not reviewed Insufficiently evaluated not reviewed unknown Array rs3130253 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VARS2 Trp309Arg W309R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VARS2 Trp479Arg W479R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VARS2 Arg777Gln R777Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VARS2 Arg947Gln R947Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-C Glu201Lys E201K not reviewed Insufficiently evaluated not reviewed unknown Array rs1131103 1202 10756 0.111752 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC44A4 Met250Val M250V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC44A4 Met284Val M284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC44A4 Val111Ile V111I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC44A4 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNXB Val306Ile V306I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - TNXB Val3875Ile V3875I not reviewed Insufficiently evaluated not reviewed unknown Array rs28361048 1074 3028 0.35469 21 0 31 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 1 N - - HLA-DQA1 Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array rs1047992 718 10758 0.066741 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HLA-DPB1 Glu86Asp E86D not reviewed Insufficiently evaluated not reviewed unknown Array rs1042133 1106 7524 0.146996 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - WDR46 Thr40Ala T40A not reviewed Insufficiently evaluated not reviewed unknown Array rs3130257 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR46 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array rs3130257 9899 10758 0.920152 56 0 108 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAPBP Thr173Arg T173R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PXT1 Val15Ala V15A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RRP36 Ala78Gly A78G not reviewed Insufficiently evaluated not reviewed unknown Array rs3749903 3269 10758 0.303867 33 0 53 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HSP90AB1 Arg604Gln R604Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.888 - - 0 - 2 N - - LOC100287718 Gln171Lys Q171K not reviewed Insufficiently evaluated not reviewed unknown Array rs9472839 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GLYATL3 Met16Thr M16T not reviewed Insufficiently evaluated not reviewed unknown Array rs13193063 865 3234 0.267471 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 1 N - - GLYATL3 Ala118Asp A118D not reviewed Insufficiently evaluated not reviewed unknown Array rs9369905 868 3234 0.268398 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 1 N - - GLYATL3 Asn161Asp N161D not reviewed Insufficiently evaluated not reviewed unknown Array rs9367359 1930 3234 0.596784 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CRISP3 Ala147Ser A147S not reviewed Insufficiently evaluated not reviewed unknown Array rs1864312 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CRISP3 Ala157Ser A157S not reviewed Insufficiently evaluated not reviewed unknown Array rs1864312 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CRISP3 Ser119Pro S119P not reviewed Insufficiently evaluated not reviewed unknown Array rs495335 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CRISP3 Ser129Pro S129P not reviewed Insufficiently evaluated not reviewed unknown Array rs495335 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM135A Asp1242Gly D1242G not reviewed Insufficiently evaluated not reviewed unknown Array rs2747701 3708 10758 0.344674 29 0 37 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - C6ORF204 Pro254Thr P254T not reviewed Insufficiently evaluated not reviewed unknown Array rs3734382 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH8A1 Pro351Thr P351T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAP7 Arg412Trp R412W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP7 Arg464Trp R464W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP7 Arg521Trp R521W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP7 Arg543Trp R543W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP7 Arg580Trp R580W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP7 Arg588Trp R588W not reviewed Insufficiently evaluated not reviewed unknown Array rs2076190 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IYD Cys265Arg C265R not reviewed Insufficiently evaluated not reviewed unknown Array rs612421 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - SYNJ2 Glu1231Gly E1231G not reviewed Insufficiently evaluated not reviewed unknown Array rs2502601 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FNDC1 Arg667Gln R667Q not reviewed Insufficiently evaluated not reviewed unknown Array 265 9838 0.0269364 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.711 - - 0 - 1 N - - KIF25 Asp27Asn D27N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - -1 - 1 N - - SUN1 Glu373Lys E373K not reviewed Insufficiently evaluated not reviewed unknown Array rs59910530 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUN1 Glu393Lys E393K not reviewed Insufficiently evaluated not reviewed unknown Array rs59910530 17 128 0.132812 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SUN1 Glu476Lys E476K not reviewed Insufficiently evaluated not reviewed unknown Array rs59910530 1394 10348 0.134712 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM195 Thr249Ala T249A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.667 - - 1 - 1 N - - ABCB5 Met446Thr M446T not reviewed Insufficiently evaluated not reviewed unknown Array rs34603556 1637 10758 0.152166 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABCB5 Lys560Glu K560E not reviewed Insufficiently evaluated not reviewed unknown Array rs2301641 4321 10758 0.401655 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCB5 Glu970Lys E970K not reviewed Insufficiently evaluated not reviewed unknown Array rs6461515 8315 10758 0.772913 47 0 81 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MGC87042 Arg166Met R166M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGC87042 Arg185Met R185M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGC87042 Leu150Phe L150F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGC87042 Leu169Phe L169F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGC87042 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRIL Asn240Ser N240S not reviewed Insufficiently evaluated not reviewed unknown Array rs740250 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM188B Thr322Met T322M not reviewed Insufficiently evaluated not reviewed unknown Array rs12701034 6004 10244 0.586099 42 0 60 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FAM188B Arg324Lys R324K not reviewed Insufficiently evaluated not reviewed unknown Array rs35897481 1138 10254 0.110981 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PDE1C Ser94Pro S94P not reviewed Insufficiently evaluated not reviewed unknown Array rs977625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF10 Glu49Asp E49D not reviewed Insufficiently evaluated not reviewed unknown Array 17 9444 0.00180008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GLI3 Ser327Gly S327G benign Low clinical importance, Uncertain benign undefined Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y 0 Y - - - - Y - - - 0.98 Y Y 2 - 4 N 0 0 Tentatively presumed benign because seen in an unaffected PGP participant. However, Polyphen 2 predicts a damaging effect and other variants in this gene are implicated in causing polydactyly and other related, rarer syndromes in a dominant manner. URGCP Met736Leu M736L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232108 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - URGCP Met770Leu M770L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232108 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - URGCP Met779Leu M779L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232108 4548 10194 0.446145 41 0 56 0 0 - - - - - - - - - - - - - - - - 0.464 - - -3 - 0 N - - CCM2 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array rs11552377 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - C7ORF72 Thr268Ala T268A not reviewed Insufficiently evaluated not reviewed unknown Array rs998928 1475 3234 0.456092 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ERV3 Asn569Ser N569S not reviewed Insufficiently evaluated not reviewed unknown Array rs4717229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERV3 Asn481Ser N481S not reviewed Insufficiently evaluated not reviewed unknown Array rs4618579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERV3 Thr90Ile T90I not reviewed Insufficiently evaluated not reviewed unknown Array rs6460219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WBSCR27 Pro219Leu P219L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCLO Gln1472Lys Q1472K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CALCR Leu481Pro L481P not reviewed Insufficiently evaluated not reviewed unknown Array rs1801197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CALCR Ser17Pro S17P not reviewed Insufficiently evaluated not reviewed unknown Array rs2301680 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP1R9A Arg1017Gln R1017Q not reviewed Insufficiently evaluated not reviewed unknown Array rs854524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R9A Arg1039Gln R1039Q not reviewed Insufficiently evaluated not reviewed unknown Array rs854524 80 128 0.625 42 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPP1R9A Arg999Gln R999Q not reviewed Insufficiently evaluated not reviewed unknown Array rs854524 4631 7818 0.592351 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASNS Val127Glu V127E not reviewed Insufficiently evaluated not reviewed unknown Array rs1049674 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASNS Val189Glu V189E not reviewed Insufficiently evaluated not reviewed unknown Array rs1049674 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PILRB Ile63Thr I63T not reviewed Insufficiently evaluated not reviewed unknown Array rs11771799 40 10690 0.00374181 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PILRB Val64Ala V64A not reviewed Insufficiently evaluated not reviewed unknown Array rs35986051 55 10696 0.00514211 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PILRB Asn66Asp N66D not reviewed Insufficiently evaluated not reviewed unknown Array rs11761306 175 10740 0.0162942 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - FBXO24 Thr524Met T524M not reviewed Insufficiently evaluated not reviewed unknown Array rs11768465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXO24 Thr574Met T574M not reviewed Insufficiently evaluated not reviewed unknown Array rs11768465 2861 10758 0.265942 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC12 Thr211Ser T211S not reviewed Insufficiently evaluated not reviewed unknown Array rs6980143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC12 Ser266Ala S266A not reviewed Insufficiently evaluated not reviewed unknown Array rs1791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC12 Pro374Thr P374T not reviewed Insufficiently evaluated not reviewed unknown Array rs4370452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC12 Ser511Arg S511R not reviewed Insufficiently evaluated not reviewed unknown Array rs10808115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC12 Met606Thr M606T not reviewed Insufficiently evaluated not reviewed unknown Array rs10953313 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Thr612Ser T612S not reviewed Insufficiently evaluated not reviewed unknown Array rs10953314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC12 Ala1790Thr A1790T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Ser1794Gly S1794G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Arg1798Thr R1798T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC12 Ala4729Thr A4729T not reviewed Insufficiently evaluated not reviewed unknown Array rs10953315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Thr4758Arg T4758R not reviewed Insufficiently evaluated not reviewed unknown Array rs11766125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SH2B2 Ala16Pro A16P not reviewed Insufficiently evaluated not reviewed unknown Array rs803074 2038 3234 0.630179 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NRCAM Pro526Ala P526A not reviewed Insufficiently evaluated not reviewed unknown Array rs6958498 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNPLA8 Ile447Thr I447T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - HYAL4 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs12672205 230 10752 0.0213914 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - PRRT4 Pro826Leu P826L not reviewed Insufficiently evaluated not reviewed unknown Array rs891215 1970 3074 0.640859 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CPA4 Gly270Cys G270C not reviewed Insufficiently evaluated not reviewed unknown Array rs2171492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNOT4 Val545Ile V545I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CNOT4 Val548Ile V548I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBXAS1 Glu207Asp E207D not reviewed Insufficiently evaluated not reviewed unknown Array rs5768 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBXAS1 Glu93Asp E93D not reviewed Insufficiently evaluated not reviewed unknown Array rs5768 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NOBOX Pro482His P482H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NOBOX Phe400Leu F400L not reviewed Insufficiently evaluated not reviewed unknown Array rs2699503 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Thr1883Met T1883M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100128542 Asn38Ser N38S not reviewed Insufficiently evaluated not reviewed unknown Array rs2058447 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100128542 Pro100Leu P100L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CSMD1 Pro3152Ala P3152A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Val2859Leu V2859L not reviewed Insufficiently evaluated not reviewed unknown Array rs667595 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Val2542Ala V2542A not reviewed Insufficiently evaluated not reviewed unknown Array rs6558703 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Asn2278Asp N2278D not reviewed Insufficiently evaluated not reviewed unknown Array rs3824271 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSMD1 Val1191Met V1191M not reviewed Insufficiently evaluated not reviewed unknown Array rs2161752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Val848Ile V848I not reviewed Insufficiently evaluated not reviewed unknown Array rs3802303 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD1 Val635Ile V635I not reviewed Insufficiently evaluated not reviewed unknown Array rs10088378 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MCPH1 Asp266His D266H not reviewed Insufficiently evaluated not reviewed unknown Array rs930557 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - MCPH1 Asp344Gly D344G not reviewed Insufficiently evaluated not reviewed unknown Array rs2515569 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - SGK223 Ser576Cys S576C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SGK223 Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS55 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array rs35102108 1693 10758 0.157371 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRSS55 Pro44Arg P44R not reviewed Insufficiently evaluated not reviewed unknown Array rs4521726 8167 10756 0.759297 52 0 85 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PRSS55 Ala212Val A212V not reviewed Insufficiently evaluated not reviewed unknown Array rs4406360 3304 10758 0.30712 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RP1L1 Glu1324Gly E1324G not reviewed Insufficiently evaluated not reviewed unknown Array rs4240659 1239 9836 0.125966 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DLC1 Val280Met V280M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC7A2 Leu587Gln L587Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1981498 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SH2D4A Glu164Gly E164G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH2D4A Glu171Gly E171G not reviewed Insufficiently evaluated not reviewed unknown Array rs4921637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SH2D4A Ser230Asn S230N not reviewed Insufficiently evaluated not reviewed unknown Array rs34608771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.113 - - 0 - 0 N - - ADAM9 Asp548Gly D548G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - C8ORF34 Arg245Gln R245Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAU2 Val160Met V160M not reviewed Insufficiently evaluated not reviewed unknown Array rs949493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAU2 Val198Met V198M not reviewed Insufficiently evaluated not reviewed unknown Array rs949493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAU2 Val26Met V26M not reviewed Insufficiently evaluated not reviewed unknown Array rs949493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAU2 Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array rs949493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFHX4 Pro1273Ser P1273S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PEX2 Cys184Arg C184R not reviewed Insufficiently evaluated not reviewed unknown Array rs10087163 10637 10758 0.988753 56 0 111 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - FZD6 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FZD6 Gln120Glu Q120E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DCAF13 Arg47Ser R47S not reviewed Insufficiently evaluated not reviewed unknown Array rs3134295 4980 10756 0.462997 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DCAF13 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array rs3134296 1528 10748 0.142166 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DCAF13 Ile194Val I194V not reviewed Insufficiently evaluated not reviewed unknown Array rs3134253 2309 10758 0.214631 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZFAT Ser408Cys S408C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOCK8 Pro29Thr P29T not reviewed Insufficiently evaluated not reviewed unknown Array rs529208 61 128 0.476562 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DOCK8 Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array rs10970979 21 126 0.166667 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FREM1 Gln679Pro Q679P not reviewed Insufficiently evaluated not reviewed unknown Array rs10961689 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTC39B Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array rs1407977 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TTC39B Ile351Val I351V not reviewed Insufficiently evaluated not reviewed unknown Array rs1407977 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TTC39B Ile407Val I407V not reviewed Insufficiently evaluated not reviewed unknown Array rs1407977 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TTC39B Ile418Val I418V not reviewed Insufficiently evaluated not reviewed unknown Array rs1407977 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TTC39B Ile420Val I420V not reviewed Insufficiently evaluated not reviewed unknown Array rs1407977 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRSS3 Thr124Ala T124A not reviewed Insufficiently evaluated not reviewed unknown Array rs855581 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS3 Thr145Ala T145A not reviewed Insufficiently evaluated not reviewed unknown Array rs855581 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC107 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs1339374 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC107 Ser215Cys S215C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TJP2 Asp459Glu D459E not reviewed Insufficiently evaluated not reviewed unknown Array rs2309428 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TJP2 Asp486Glu D486E not reviewed Insufficiently evaluated not reviewed unknown Array rs2309428 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TJP2 Asp513Glu D513E not reviewed Insufficiently evaluated not reviewed unknown Array rs2309428 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PCSK5 Gly1275Asp G1275D not reviewed Insufficiently evaluated not reviewed unknown Array rs1110222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCSK5 Lys1320Glu K1320E not reviewed Insufficiently evaluated not reviewed unknown Array rs1110223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCSK5 Thr1343Met T1343M not reviewed Insufficiently evaluated not reviewed unknown Array rs3001772 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCSK5 Arg1366His R1366H not reviewed Insufficiently evaluated not reviewed unknown Array rs2495207 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCSK5 Glu1414Gln E1414Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2803429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCSK5 Asp1699Glu D1699E not reviewed Insufficiently evaluated not reviewed unknown Array rs7036921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C9ORF174 Ser856Cys S856C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF174 Phe1175Leu F1175L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSTD2 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2773347 7680 10758 0.713887 45 0 63 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DFNB31 His751Gln H751Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6478078 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - OR1L6 Gln23Lys Q23K not reviewed Insufficiently evaluated not reviewed unknown Array rs10760252 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR1L6 Cys150Tyr C150Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4838012 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR1L6 Ile215Thr I215T not reviewed Insufficiently evaluated not reviewed unknown Array rs10985760 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR1L6 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1L6 Met223Ile M223I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR1L6 Gly234Arg G234R not reviewed Insufficiently evaluated not reviewed unknown Array rs28670025 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR144 Val750Met V750M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT2L1 Thr936Ser T936S not reviewed Insufficiently evaluated not reviewed unknown Array rs10736851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BAT2L1 Met1044Thr M1044T not reviewed Insufficiently evaluated not reviewed unknown Array rs10793873 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAT2L1 Ala1276Val A1276V not reviewed Insufficiently evaluated not reviewed unknown Array rs11243403 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSC1 Met271Thr M271T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CSF2RA Arg84His R84H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 1 - 1 N - - SLC25A6 Gln50Arg Q50R not reviewed Insufficiently evaluated not reviewed unknown Array rs14005 1217 10750 0.113209 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ASMTL Arg483Lys R483K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ASMTL Arg525Lys R525K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.94 - - -3 - 2 N - - GYG2 Ala84Val A84V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GYG2 His127Arg H127R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.384 - - 1 - 1 N - - ARSF Asp59His D59H not reviewed Insufficiently evaluated not reviewed unknown Array 4 8761 0.000456568 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - HDHD1 Cys198Ser C198S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HDHD1 Thr111Met T111M not reviewed Insufficiently evaluated not reviewed unknown Array rs1131197 1567 8092 0.193648 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HDHD1 Thr88Met T88M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.874 - - 2 - 2 N - - EGFL6 Gly114Arg G114R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - RBBP7 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAI2 Met202Val M202V not reviewed Insufficiently evaluated not reviewed unknown Array rs6527818 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH3KBP1 Gly323Ser G323S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3KBP1 Gly524Ser G524S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3KBP1 Gly561Ser G561S not reviewed Insufficiently evaluated not reviewed unknown Array 27 8759 0.00308254 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCAF8L2 Thr345Ala T345A not reviewed Insufficiently evaluated not reviewed unknown Array rs5926895 773 2482 0.311442 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAB3 Trp394Arg W394R not reviewed Insufficiently evaluated not reviewed unknown Array rs5927629 8757 8759 0.999772 56 0 112 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - WDR13 His233Arg H233R not reviewed Insufficiently evaluated not reviewed unknown Array rs235842 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSX7 Asp182Glu D182E not reviewed Insufficiently evaluated not reviewed unknown Array rs112382781 761 8722 0.0872506 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.994 - - -2 - 1 N - - FAM104B Ile50Leu I50L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM104B Ile52Leu I52L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM104B Ile53Leu I53L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.199 - - -2 - 0 N - - HEPH Val39Ala V39A not reviewed Insufficiently evaluated not reviewed unknown Array rs5919015 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HDX Phe339Ser F339S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAF7L Ser222Gly S222G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMAT1 Gln536Arg Q536R not reviewed Insufficiently evaluated not reviewed unknown Array rs5944882 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCAF12L2 His147Gln H147Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10126452 4117 8759 0.470031 36 0 65 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MAP7D3 Gln593Arg Q593R not reviewed Insufficiently evaluated not reviewed unknown Array rs2273221 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7D3 Gln610Arg Q610R not reviewed Insufficiently evaluated not reviewed unknown Array rs2273221 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7D3 Glu467Ala E467A not reviewed Insufficiently evaluated not reviewed unknown Array rs1055497 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP7D3 Glu484Ala E484A not reviewed Insufficiently evaluated not reviewed unknown Array rs1055497 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNB3 Val621Ile V621I not reviewed Insufficiently evaluated not reviewed unknown Array rs2266879 4428 8747 0.506231 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLXNB3 Glu1179Asp E1179D not reviewed Insufficiently evaluated not reviewed unknown Array rs6643791 6397 8508 0.751881 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AMPD1 Gln45Stop Q45X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - FAM71A Lys555Stop K555X not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C13ORF40 Cys1275Stop C1275X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SDR42E1 Gln30Stop Q30X not reviewed Insufficiently evaluated not reviewed unknown Array rs11542462 879 9766 0.0900061 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - TTN Gln10797Stop Q10797X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Gln10922Stop Q10922X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Gln10989Stop Q10989X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Gln17294Stop Q17294X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - RIBC2 Trp240Stop W240X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 6630 10758 0.616286 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - ZBED3 Gln193Stop Q193X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AGRN Gln1135Arg Q1135R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10756 0.00529937 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MIB2 Met102Thr M102T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC35E2B Val312Ile V312I not reviewed Insufficiently evaluated not reviewed unknown Array rs12729295 1377 3206 0.429507 24 0 40 0 0 - - - - - - - - - - - - - - - - 0.244 - - -4 - 0 N - - MEGF6 Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 7 Y 1 N - - PRAMEF16 Arg130Ser R130S not reviewed Insufficiently evaluated not reviewed unknown Array rs1811632 78 92 0.847826 30 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PADI1 Thr255Ile T255I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - ARHGEF10L Ser47Asn S47N not reviewed Insufficiently evaluated not reviewed unknown Array rs34417109 477 10758 0.0443391 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH4A1 Thr468Asn T468N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ALDH4A1 Thr528Asn T528N not reviewed Insufficiently evaluated not reviewed unknown Array rs61757683 210 10758 0.0195204 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.818 Y - 1 - 2 N - - PLA2G2D Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array rs62541900 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - VWA5B1 Glu1061Lys E1061K not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPL Arg152His R152H not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - ALPL Arg75His R75H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALPL Arg97His R97H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AHDC1 Arg347Pro R347P not reviewed Insufficiently evaluated not reviewed unknown Array 2 94 0.0212766 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - BAI2 Thr457Met T457M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - 2 - 1 N - - C1ORF94 Leu9Ile L9I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OSCP1 Gly307Arg G307R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275477 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OSCP1 Thr131Ala T131A not reviewed Insufficiently evaluated not reviewed unknown Array rs34409118 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC1A7 Lys162Met K162M not reviewed Insufficiently evaluated not reviewed unknown Array 318 10758 0.0295594 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF175 Lys455Arg K455R not reviewed Insufficiently evaluated not reviewed unknown Array rs2304314 254 9684 0.0262288 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - USP24 Val2468Ala V2468A not reviewed Insufficiently evaluated not reviewed unknown Array rs487230 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - USP24 Thr226Ile T226I not reviewed Insufficiently evaluated not reviewed unknown Array rs1165222 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGM1 Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PGM1 Arg239Cys R239C not reviewed Insufficiently evaluated not reviewed unknown Array rs1126728 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PGM1 Arg24Cys R24C not reviewed Insufficiently evaluated not reviewed unknown Array rs1126728 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC18 Ala1072Val A1072V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM15 Ala668Val A668V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMPD1 Pro77Leu P77L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - AMPD1 Pro81Leu P81L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - NBPF7 Ser267Pro S267P not reviewed Insufficiently evaluated not reviewed unknown Array rs61789693 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - NOTCH2 Ser106Pro S106P not reviewed Insufficiently evaluated not reviewed unknown Array rs10910779 2 52 0.0384615 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y 3 - 2 N - - LIX1L Gly19Asp G19D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM63A Arg89Ser R89S not reviewed Insufficiently evaluated not reviewed unknown Array 998 10758 0.0927682 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SEMA6C Thr68Ala T68A not reviewed Insufficiently evaluated not reviewed unknown Array 516 10758 0.0479643 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.485 - - 1 - 1 N - - HRNR Leu2770Pro L2770P not reviewed Insufficiently evaluated not reviewed unknown Array rs41266118 3805 9166 0.415121 23 0 46 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HRNR His2762Gln H2762Q not reviewed Insufficiently evaluated not reviewed unknown Array rs78980175 37 8232 0.00449465 23 0 46 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Arg2761Gln R2761Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41266120 3047 8238 0.369871 23 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR Gly2758Ser G2758S not reviewed Insufficiently evaluated not reviewed unknown Array rs41266122 3352 8532 0.392874 24 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HRNR Gly492Glu G492E not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR His491Tyr H491Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 114 0.0526316 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HRNR Gly490Ser G490S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLG Glu2652Asp E2652D not reviewed Insufficiently evaluated not reviewed unknown Array 1368 7592 0.18019 11 0 14 0 0 - - - - - - - - - - - - Y - - - 0.406 Y Y -2 - 2 N - - FLG His2268Arg H2268R not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ARHGEF11 Met1090Ile M1090I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGEF11 Met1130Ile M1130I not reviewed Insufficiently evaluated not reviewed unknown Array rs35187704 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6K3 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF204 Ser140Asn S140N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SELL Pro226Ser P226S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAT2L2 Gly1213Glu G1213E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAT2L2 Ala1885Thr A1885T not reviewed Insufficiently evaluated not reviewed unknown Array 1147 8682 0.132112 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PAPPA2 Pro1657Arg P1657R not reviewed Insufficiently evaluated not reviewed unknown Array rs34602579 63 9726 0.00647748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 5 Y 2 N - - C1ORF49 Leu179Arg L179R not reviewed Insufficiently evaluated not reviewed unknown Array rs3813636 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF27 Ser219Cys S219C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAV1 Asp96Asn D96N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAV1 Ser1273Leu S1273L not reviewed Insufficiently evaluated not reviewed unknown Array rs2820289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 6 Y 2 N - - NAV1 Ser879Leu S879L not reviewed Insufficiently evaluated not reviewed unknown Array rs2820289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - 6 Y 1 N - - MYOG Arg147Cys R147C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745017 244 10758 0.0226808 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRGAP2 Gly419Ser G419S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP2R5A Pro55Ala P55A not reviewed Insufficiently evaluated not reviewed unknown Array rs75232123 137 10554 0.0129809 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - CNIH4 Gly54Ser G54S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - WDR64 Lys357Asn K357N not reviewed Insufficiently evaluated not reviewed unknown Array rs56327926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 1 - 2 N - - CEP170 Arg393His R393H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9904 0.000100969 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.787 - - 1 - 1 N - - KIF26B Ser1294Leu S1294L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10434 0.00230017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.902 - - 6 Y 2 N - - OR2W5 Gly225Ser G225S not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DIP2C Met108Ile M108I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - -1 - 1 N - - ASB13 Leu89Pro L89P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - MRC1 Gly396Ser G396S not reviewed Insufficiently evaluated not reviewed unknown Array rs34039386 4 86 0.0465116 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRC1L1 Gly396Ser G396S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CACNB2 Asp589Glu D589E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD30A Glu782Gly E782G not reviewed Insufficiently evaluated not reviewed unknown Array 20 9448 0.00211685 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD30A Asp785Val D785V not reviewed Insufficiently evaluated not reviewed unknown Array 4 120 0.0333333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKRD30A Asn786Lys N786K not reviewed Insufficiently evaluated not reviewed unknown Array 4 120 0.0333333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD30A Phe789Leu F789L not reviewed Insufficiently evaluated not reviewed unknown Array 4 120 0.0333333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM170B Arg69Leu R69L not reviewed Insufficiently evaluated not reviewed unknown Array rs17773851 823 3234 0.254484 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM170B Tyr4His Y4H not reviewed Insufficiently evaluated not reviewed unknown Array rs34110351 824 3234 0.254793 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MYOZ1 Tyr218Asp Y218D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - MYST4 Gln520Pro Q520P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - 4 Y 2 N - - NRG3 Glu454Lys E454K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRG3 Glu650Lys E650K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OPN4 Gln284Arg Q284R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - OPN4 Gln295Arg Q295R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCE1 Arg240Leu R240L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ZNF518A Met978Val M978V not reviewed Insufficiently evaluated not reviewed unknown Array rs41291604 261 9462 0.027584 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLL Arg346Trp R346W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPCD Leu156Ser L156S not reviewed Insufficiently evaluated not reviewed unknown Array rs7006 3317 10758 0.308329 30 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GSTO1 Ala112Asp A112D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GSTO2 Asn114Asp N114D not reviewed Insufficiently evaluated not reviewed unknown Array rs156697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TCF7L2 His401Gln H401Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - TCF7L2 His452Gln H452Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - TCF7L2 His458Gln H458Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - CASP7 Cys152Tyr C152Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF122 Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array rs41307583 97 3234 0.0299938 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF511 Phe155Leu F155L not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - LRRC56 Ala124Val A124V not reviewed Insufficiently evaluated not reviewed unknown Array rs61747447 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.254 - - 2 - 1 N - - CDHR5 Pro515Ser P515S not reviewed Insufficiently evaluated not reviewed unknown Array rs2740375 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDHR5 Pro521Ser P521S not reviewed Insufficiently evaluated not reviewed unknown Array rs2740375 4886 10758 0.454174 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - CDHR5 Arg357Ser R357S not reviewed Insufficiently evaluated not reviewed unknown Array rs2246614 6052 10736 0.563711 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC5B Thr3284Ala T3284A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr4706Pro T4706P not reviewed Insufficiently evaluated not reviewed unknown Array rs2943512 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC5B Ser4897Leu S4897L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5B Asp5554Asn D5554N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCUBE2 Thr465Met T465M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCUBE2 Thr620Met T620M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMPD3 Arg26Trp R26W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF22 Ile1131Val I1131V not reviewed Insufficiently evaluated not reviewed unknown Array rs2289965 1049 3234 0.324366 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ARHGAP1 Leu104Phe L104F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - FOLH1 Tyr60His Y60H not reviewed Insufficiently evaluated not reviewed unknown Array rs202676 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VWCE Val44Ile V44I not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - RAB3IL1 Gln49Arg Q49R not reviewed Insufficiently evaluated not reviewed unknown Array rs174477 1271 10500 0.121048 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 0 N - - AHNAK Val4210Leu V4210L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - PRDX5 Asn105Ile N105I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDX5 Asn150Ile N150I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDX5 Asn194Ile N194I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CCDC88B Thr943Ile T943I not reviewed Insufficiently evaluated not reviewed unknown Array 197 10736 0.0183495 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - SLC22A20 Glu82Lys E82K not reviewed Insufficiently evaluated not reviewed unknown Array rs11605632 41 106 0.386792 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCNXL3 Arg584Trp R584W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10490 0.00314585 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DKFZP761E198 Ser770Gly S770G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD248 Gln529Glu Q529E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - -2 - 2 N - - ACTN3 Arg314Cys R314C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PITPNM1 Arg882Gln R882Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PITPNM1 Arg883Gln R883Q not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHANK2 Arg230His R230H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NARS2 Lys27Arg K27R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIM64 Gln358Arg Q358R not reviewed Insufficiently evaluated not reviewed unknown Array rs4572095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AMOTL1 Arg363Gln R363Q not reviewed Insufficiently evaluated not reviewed unknown Array 45 9980 0.00450902 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - KDM4DL Thr294Asn T294N not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXPH5 Val337Phe V337F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXPH5 Val449Phe V449F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXPH5 Val525Phe V525F not reviewed Insufficiently evaluated not reviewed unknown Array rs12146448 300 10758 0.0278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8G5 Leu140Phe L140F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROBO3 Val423Met V423M not reviewed Insufficiently evaluated not reviewed unknown Array rs4935898 392 10504 0.0373191 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - SLC6A13 Asp386Asn D386N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC77 Val24Ile V24I not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - B4GALNT3 Arg992His R992H not reviewed Insufficiently evaluated not reviewed unknown Array rs36078145 476 10758 0.0442461 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - WNK1 Pro1576Leu P1576L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - WNK1 Pro2075Leu P2075L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - WNK1 Pro2083Leu P2083L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - FOXM1 Ala387Glu A387E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXM1 Ala402Glu A402E not reviewed Insufficiently evaluated not reviewed unknown Array rs28990715 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.345 - - 3 - 1 N - - TAS2R46 Ile13Val I13V not reviewed Insufficiently evaluated not reviewed unknown Array 14 92 0.152174 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GPRC5D Thr248Ile T248I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 1 N - - PIK3C2G Ala724Gly A724G not reviewed Insufficiently evaluated not reviewed unknown Array 14 9552 0.00146566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OVCH1 Arg371Cys R371C not reviewed Insufficiently evaluated not reviewed unknown Array 81 9644 0.008399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - PDZRN4 Gly429Ser G429S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.52 - - 2 - 1 N - - PPHLN1 Pro141Ser P141S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - PPHLN1 Pro148Ser P148S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPHLN1 Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPHLN1 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCKAP5L Leu326Met L326M not reviewed Insufficiently evaluated not reviewed unknown Array 310 9944 0.0311746 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LARP4 Phe350Leu F350L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD33 Gly262Glu G262E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRT6B Gly499Ser G499S not reviewed Insufficiently evaluated not reviewed unknown Array rs61746355 298 10758 0.0277003 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - KRT8 Arg341His R341H not reviewed Insufficiently evaluated not reviewed unknown Array rs57422427 240 10754 0.0223173 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 1 N - - LRP1 Arg2613Gln R2613Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 0 - 2 N - - GLI1 Gly892Asp G892D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GLI1 Glu1059Gln E1059Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC35E3 Cys61Ser C61S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743810 176 9994 0.0176106 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.819 - - 3 - 1 N - - C12ORF64 Gln1102His Q1102H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF12 Ser226Thr S226T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACACB Met835Val M835V not reviewed Insufficiently evaluated not reviewed unknown Array rs17848802 236 10758 0.0219372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1H His695Tyr H695Y not reviewed Insufficiently evaluated not reviewed unknown Array 467 9516 0.0490752 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO1H Leu1001Pro L1001P not reviewed Insufficiently evaluated not reviewed unknown Array rs3825393 7008 9576 0.73183 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OAS3 Arg492His R492H not reviewed Insufficiently evaluated not reviewed unknown Array 117 9834 0.0118975 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RHOF Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61751318 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.322 - - 0 - 1 N - - TMEM132C Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM132C Val444Ile V444I not reviewed Insufficiently evaluated not reviewed unknown Array rs4272850 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EP400 Pro2516Ser P2516S not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC645277 Arg42Gly R42G not reviewed Insufficiently evaluated not reviewed unknown Array rs11146963 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZMYM2 Leu11Met L11M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - -3 - 1 N - - ZMYM2 Thr15Asn T15N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - C1QTNF9B Val238Ala V238A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBEA Ile2347Val I2347V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM194B Leu661Phe L661F not reviewed Insufficiently evaluated not reviewed unknown Array 23 3234 0.00711193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM194B Val653Phe V653F not reviewed Insufficiently evaluated not reviewed unknown Array rs1536207 1127 3234 0.348485 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM194B Glu178Lys E178K not reviewed Insufficiently evaluated not reviewed unknown Array rs3014939 1405 3234 0.434447 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C13ORF40 Arg6075Cys R6075C not reviewed Insufficiently evaluated not reviewed unknown Array rs9300756 1797 3232 0.556002 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C13ORF40 Ile96Val I96V not reviewed Insufficiently evaluated not reviewed unknown Array rs1375719 1392 3224 0.431762 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C13ORF40 Cys82Ser C82S not reviewed Insufficiently evaluated not reviewed unknown Array rs12855785 1393 3230 0.431269 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MCF2L Gly65Ser G65S not reviewed Insufficiently evaluated not reviewed unknown Array 155 6442 0.0240608 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLHL33 Ala516Thr A516T not reviewed Insufficiently evaluated not reviewed unknown Array rs7145318 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFHX2 Ser2137Arg S2137R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KHNYN Lys261Thr K261T not reviewed Insufficiently evaluated not reviewed unknown Array rs3742520 4262 10758 0.39617 32 0 46 0 0 - - - - - - - - - - - - - - - - 0.326 - - 3 - 0 N - - C14ORF104 Cys469Tyr C469Y not reviewed Insufficiently evaluated not reviewed unknown Array 49 10500 0.00466667 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - SDCCAG1 Thr269Met T269M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 2 - 1 N - - TXNDC16 Asn6Ser N6S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHH1 Met438Val M438V not reviewed Insufficiently evaluated not reviewed unknown Array rs17104428 483 9940 0.0485916 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXD2 Asp106Asn D106N not reviewed Insufficiently evaluated not reviewed unknown Array rs35010854 248 10758 0.0230526 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - EXD2 Asp231Asn D231N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - VIPAR Gln87Lys Q87K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - EML5 Asp1285Asn D1285N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - -1 - 2 N - - CINP Arg179His R179H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AHNAK2 Ser2520Pro S2520P not reviewed Insufficiently evaluated not reviewed unknown Array rs2819428 91 9736 0.00934675 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.04 - - 3 - 0 N - - AHNAK2 Pro2082Ala P2082A not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - HERC2 Arg3681Cys R3681C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - C15ORF56 Pro151Arg P151R not reviewed Insufficiently evaluated not reviewed unknown Array rs55974545 1816 9588 0.189403 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MGA Cys1270Arg C1270R not reviewed Insufficiently evaluated not reviewed unknown Array rs17677811 343 9762 0.0351362 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - JMJD7 Glu7Gly E7G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - JMJD7-PLA2G4B Glu7Gly E7G not reviewed Insufficiently evaluated not reviewed unknown Array 312 10736 0.0290611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPTBN5 Ile3584Val I3584V not reviewed Insufficiently evaluated not reviewed unknown Array 365 10614 0.0343885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAP1A Val596Ile V596I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - SECISBP2L Pro916Ala P916A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - APH1B Thr27Ile T27I not reviewed Insufficiently evaluated not reviewed unknown Array 1007 10758 0.0936048 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 1 N - - HERC1 Leu1682Val L1682V not reviewed Insufficiently evaluated not reviewed unknown Array 260 10076 0.0258039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - IGDCC4 Ser229Gly S229G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10736 0.000558867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 2 - 1 N - - SMAD3 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMAD3 Ile170Val I170V not reviewed Insufficiently evaluated not reviewed unknown Array rs35874463 424 10758 0.0394125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMAD3 Ile65Val I65V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AAGAB Ile132Leu I132L not reviewed Insufficiently evaluated not reviewed unknown Array rs7173826 2423 9658 0.25088 26 0 33 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - SCAPER Gln1166Glu Q1166E not reviewed Insufficiently evaluated not reviewed unknown Array 30 9980 0.00300601 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCAPER Gln920Glu Q920E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR73 Asp334Gly D334G not reviewed Insufficiently evaluated not reviewed unknown Array rs72750868 658 10414 0.0631842 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.777 - - 4 Y 0 N - - ACAN Ser1856Asn S1856N not reviewed Insufficiently evaluated not reviewed unknown Array 15 9854 0.00152222 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGPEP1L Glu115Gln E115Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PGPEP1L Glu169Gln E169Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1521484 4130 9874 0.41827 28 0 39 0 0 - - - - - - - - - - - - - - - - 0.514 - - -2 - 0 N - - SOLH Leu427Pro L427P not reviewed Insufficiently evaluated not reviewed unknown Array 230 9488 0.0242411 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAIAP3 Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - PTX4 Leu328Met L328M not reviewed Insufficiently evaluated not reviewed unknown Array rs2667672 48 118 0.40678 29 0 41 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PTX4 Arg299His R299H not reviewed Insufficiently evaluated not reviewed unknown Array rs61751878 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTX4 Ala288Asp A288D not reviewed Insufficiently evaluated not reviewed unknown Array rs2745097 45 128 0.351562 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PTX4 Arg215Gly R215G not reviewed Insufficiently evaluated not reviewed unknown Array rs2667673 77 124 0.620968 42 0 69 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PTX4 His214Asn H214N not reviewed Insufficiently evaluated not reviewed unknown Array rs2745099 13 124 0.104839 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PTX4 Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array rs2745101 36 124 0.290323 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PTX4 Gly36Cys G36C not reviewed Insufficiently evaluated not reviewed unknown Array rs1040499 70 124 0.564516 41 0 60 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PTX4 Gly2Glu G2E not reviewed Insufficiently evaluated not reviewed unknown Array rs2745103 38 128 0.296875 29 0 34 0 0 - - - - - - - - - - - - - - - - 0.485 - - 6 Y 0 N - - PAM16 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMG1 Arg1418Thr R1418T not reviewed Insufficiently evaluated not reviewed unknown Array rs17731779 186 9742 0.0190926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLR3E Ser46Ala S46A not reviewed Insufficiently evaluated not reviewed unknown Array rs2347 452 10758 0.0420152 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.221 - - -1 - 1 N - - SULT1A2 Arg184Pro R184P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF764 Ala331Val A331V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF668 Ala470Val A470V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC5A2 Glu591Asp E591D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -2 - 1 N - - CES5A Asp487Glu D487E not reviewed Insufficiently evaluated not reviewed unknown Array rs11860456 43 128 0.335938 30 0 34 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CES5A Asp537Glu D537E not reviewed Insufficiently evaluated not reviewed unknown Array rs11860456 3459 10758 0.321528 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CES5A Asp566Glu D566E not reviewed Insufficiently evaluated not reviewed unknown Array rs11860456 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CETP Arg468Gln R468Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800777 308 10758 0.0286299 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 0 - 1 N - - C16ORF57 Gln232Glu Q232E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CES3 Arg6Trp R6W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RLTPR Arg889Trp R889W not reviewed Insufficiently evaluated not reviewed unknown Array 93 10574 0.00879516 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - FUK Phe228Tyr F228Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 9972 0.00200562 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -4 - 2 N - - IL34 Glu122Gln E122Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8046424 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HYDIN Thr584Asn T584N not reviewed Insufficiently evaluated not reviewed unknown Array rs7200126 6 126 0.047619 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - HYDIN Thr601Asn T601N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HYDIN Thr611Asn T611N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Arg281His R281H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Arg489His R489H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Arg509His R509H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Arg537His R537H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAR1 Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array rs1035539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCAR1 Pro74Ser P74S not reviewed Insufficiently evaluated not reviewed unknown Array rs1035539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCAR1 Pro94Ser P94S not reviewed Insufficiently evaluated not reviewed unknown Array rs1035539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCAR1 Pro14Arg P14R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYCE1L Leu130Pro L130P not reviewed Insufficiently evaluated not reviewed unknown Array 111 3234 0.0343228 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Glu1260Gly E1260G not reviewed Insufficiently evaluated not reviewed unknown Array 142 10028 0.0141604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHDC4 Thr45Ile T45I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - FAM38A Val250Ala V250A not reviewed Insufficiently evaluated not reviewed unknown Array rs7184427 2768 3232 0.856436 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DPEP1 Ala402Thr A402T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10718 0.00130621 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MC1R Ile155Thr I155T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF3 Gly49Ala G49A not reviewed Insufficiently evaluated not reviewed unknown Array 59 10752 0.00548735 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPH1 Thr162Ile T162I not reviewed Insufficiently evaluated not reviewed unknown Array 72 10428 0.00690449 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SMG6 Ala941Thr A941T not reviewed Insufficiently evaluated not reviewed unknown Array rs903160 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMG6 Asn310Thr N310T not reviewed Insufficiently evaluated not reviewed unknown Array rs1885987 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMG6 Arg260Pro R260P not reviewed Insufficiently evaluated not reviewed unknown Array rs1885986 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAP1GAP2 Leu187Met L187M not reviewed Insufficiently evaluated not reviewed unknown Array rs17762452 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RAP1GAP2 Leu202Met L202M not reviewed Insufficiently evaluated not reviewed unknown Array rs17762452 2599 10064 0.258247 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZZEF1 Ile2208Asn I2208N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHRNE Gly18Val G18V not reviewed Insufficiently evaluated not reviewed unknown Array rs4790235 196 10758 0.018219 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - WSCD1 Thr301Ile T301I not reviewed Insufficiently evaluated not reviewed unknown Array rs41314099 139 10758 0.0129206 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - PITPNM3 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TNFSF13 Glu146Asp E146D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNFSF13 Glu163Asp E163D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNFSF13 Glu164Asp E164D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ALOXE3 Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MYH13 Arg1822Trp R1822W not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MYH1 Ala630Val A630V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNJ18 Asp173Asn D173N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNJ18 Glu289Gln E289Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNJ18 Thr290Met T290M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNJ18 Val297Ile V297I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNJ18 Met302Ile M302I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNJ18 Ser405Ile S405I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CORO6 Pro369Arg P369R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CRLF3 Val228Ile V228I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - -4 - 1 N - - SLFN12L Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - SYNRG Thr222Ala T222A not reviewed Insufficiently evaluated not reviewed unknown Array rs12602536 1635 10758 0.15198 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KRTAP4-9 Arg66Cys R66C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP16-1 Ala487Gly A487G not reviewed Insufficiently evaluated not reviewed unknown Array rs2074286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP16-1 Pro340Arg P340R not reviewed Insufficiently evaluated not reviewed unknown Array rs2074285 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP16-1 Ser257Thr S257T not reviewed Insufficiently evaluated not reviewed unknown Array rs2074284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP16-1 Val138Ile V138I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRTAP17-1 Gly42Asp G42D not reviewed Insufficiently evaluated not reviewed unknown Array 1149 10660 0.107786 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KRT33B Glu85Lys E85K not reviewed Insufficiently evaluated not reviewed unknown Array rs12450621 468 10752 0.0435268 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - AOC2 Asp713Asn D713N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AOC2 Asp740Asn D740N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - CD300LG Thr143Ala T143A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - CD300LG Thr194Ala T194A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF104 Asn320Thr N320T not reviewed Insufficiently evaluated not reviewed unknown Array rs9907151 2880 10752 0.267857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRRC37A2 Met1653Leu M1653L not reviewed Insufficiently evaluated not reviewed unknown Array rs273545 17 102 0.166667 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BZRAP1 Asp1241Asn D1241N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BZRAP1 Asp1301Asn D1301N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741210 205 10756 0.0190591 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - C17ORF72 Cys221Tyr C221Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12939821 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OTOP3 Glu490Lys E490K not reviewed Insufficiently evaluated not reviewed unknown Array rs34805215 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.715 - - 0 - 1 N - - DNAH17 Ala1101Gly A1101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - DNAH17 Thr233Ala T233A not reviewed Insufficiently evaluated not reviewed unknown Array rs894968 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC26A11 Gly274Arg G274R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF213 Lys1034Met K1034M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNF213 Ala1090Thr A1090T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF213 Val3887Leu V3887L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Glu3964Gly E3964G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COLEC12 Ile487Val I487V not reviewed Insufficiently evaluated not reviewed unknown Array rs8098850 653 10726 0.0608801 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM38B Glu1898Gln E1898Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CEP192 Gly74Ala G74A not reviewed Insufficiently evaluated not reviewed unknown Array rs4499304 1484 3234 0.458874 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CEP192 Gly78Arg G78R not reviewed Insufficiently evaluated not reviewed unknown Array rs11080618 1087 3234 0.336116 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CEP192 Glu459Lys E459K not reviewed Insufficiently evaluated not reviewed unknown Array 44 3234 0.0136054 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP192 Leu1394Phe L1394F not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCEB3C Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array rs2437008 30 108 0.277778 9 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TCEB3CL Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEDD4L Ser112Leu S112L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEDD4L Ser225Leu S225L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEDD4L Ser233Leu S233L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10364 0.00347356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NFATC1 Pro55Thr P55T not reviewed Insufficiently evaluated not reviewed unknown Array rs1051978 847 10754 0.0787614 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NFATC1 Pro68Thr P68T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.305 - - 4 Y 1 N - - MED16 Arg876Pro R876P not reviewed Insufficiently evaluated not reviewed unknown Array 81 10734 0.00754612 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.149 - - 5 Y 0 N - - ABCA7 Arg463His R463H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752233 307 10756 0.0285422 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 2 N - - ABCA7 Val1311Gly V1311G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPPL2B Arg366His R366H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAFB2 Gly815Ser G815S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10748 0.00260514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLJ22184 Leu832Pro L832P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC44A2 Cys93Arg C93R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC44A2 Cys95Arg C95R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC159 Cys278Ser C278S not reviewed Insufficiently evaluated not reviewed unknown Array rs6887 4922 10726 0.458885 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ECSIT Glu194Lys E194K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ECSIT Glu408Lys E408K not reviewed Insufficiently evaluated not reviewed unknown Array rs35513404 274 10712 0.0255788 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ZNF844 Arg362Lys R362K not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF44 Thr212Ala T212A not reviewed Insufficiently evaluated not reviewed unknown Array rs11879168 1902 10750 0.17693 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - NCAN Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228603 573 10758 0.0532627 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 1 N - - ZNF208 Asp1035Gly D1035G not reviewed Insufficiently evaluated not reviewed unknown Array rs8108957 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SBSN Asn186Ser N186S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SBSN Asn529Ser N529S not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL4 Thr498Asn T498N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF573 Gly136Ala G136A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF573 Gly222Ala G222A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 2 N - - ZNF573 Gly224Ala G224A not reviewed Insufficiently evaluated not reviewed unknown Array rs3752365 14 128 0.109375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SERTAD1 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10738 0.00167629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SRRM5 Lys228Arg K228R not reviewed Insufficiently evaluated not reviewed unknown Array rs13343696 874 3234 0.270254 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - SRRM5 Asp640Asn D640N not reviewed Insufficiently evaluated not reviewed unknown Array rs34163641 866 3234 0.26778 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF404 Arg474Cys R474C not reviewed Insufficiently evaluated not reviewed unknown Array 508 10528 0.0482523 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF404 Thr248Met T248M not reviewed Insufficiently evaluated not reviewed unknown Array 155 10416 0.014881 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF234 Ile188Phe I188F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ZNF234 Val208Met V208M not reviewed Insufficiently evaluated not reviewed unknown Array rs11668974 249 10758 0.0231456 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ZNF285A Arg573His R573H not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF285A Glu537Gln E537Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF285A Asn528His N528H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOC4 Gly52Asp G52D not reviewed Insufficiently evaluated not reviewed unknown Array rs12691089 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 4 Y 0 N - - DHX34 Ile589Thr I589T not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CARD8 Phe102Ile F102I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CARD8 Phe52Ile F52I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NTN5 Ile266Leu I266L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - PLEKHA4 Ser20Tyr S20Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62127976 298 10752 0.0277158 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.971 - - 5 Y 2 N - - DKKL1 Met34Arg M34R not reviewed Insufficiently evaluated not reviewed unknown Array rs2303759 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DKKL1 Gly112Ser G112S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DKKL1 Gly156Ser G156S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DKKL1 Glu139Lys E139K not reviewed Insufficiently evaluated not reviewed unknown Array rs2288481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DKKL1 Glu183Lys E183K not reviewed Insufficiently evaluated not reviewed unknown Array rs2288481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASPDH Val156Ile V156I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASPDH Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10370 0.00433944 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - -4 - 1 N - - LOC342918 Ser77Ala S77A not reviewed Insufficiently evaluated not reviewed unknown Array rs4801844 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VSIG10L Met356Ile M356I not reviewed Insufficiently evaluated not reviewed unknown Array rs7259266 1773 3152 0.5625 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CEACAM18 Met78Thr M78T not reviewed Insufficiently evaluated not reviewed unknown Array rs75588884 224 9960 0.02249 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF880 Tyr150Cys Y150C not reviewed Insufficiently evaluated not reviewed unknown Array rs324125 533 3234 0.164811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF28 Arg403Thr R403T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.948 - - 3 - 2 N - - ZNF28 Arg179Gly R179G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.42 - - 6 Y 1 N - - LILRB3 Glu90Gln E90Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16985555 243 9962 0.0243927 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRA6 Val459Leu V459L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP2 Ala1029Glu A1029E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP2 Ala1030Glu A1030E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPL28 Gly115Glu G115E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF530 His509Tyr H509Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62126240 271 10758 0.0251906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - ZNF135 Gly34Asp G34D not reviewed Insufficiently evaluated not reviewed unknown Array rs1469087 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RRM2 Ser59Ala S59A not reviewed Insufficiently evaluated not reviewed unknown Array rs1130609 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASXL2 Ser185Gly S185G not reviewed Insufficiently evaluated not reviewed unknown Array 23 10178 0.00225978 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - TTC27 Tyr426Cys Y426C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGEF33 Ser521Thr S521T not reviewed Insufficiently evaluated not reviewed unknown Array 31 3234 0.00958565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DYNC2LI1 Ile231Leu I231L not reviewed Insufficiently evaluated not reviewed unknown Array rs11556157 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC388946 Leu92Pro L92P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC7A Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - FAM161A Thr66Ile T66I not reviewed Insufficiently evaluated not reviewed unknown Array 18 3234 0.00556586 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - AAK1 Val603Ala V603A not reviewed Insufficiently evaluated not reviewed unknown Array rs56038532 314 9718 0.0323112 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TET3 Pro294Ser P294S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741171 422 10124 0.0416831 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - MOGS Val567Ile V567I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MOGS Val673Ile V673I not reviewed Insufficiently evaluated not reviewed unknown Array 86 9874 0.00870974 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y -4 - 2 N - - SFTPB Thr143Ile T143I not reviewed Insufficiently evaluated not reviewed unknown Array rs1130866 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KIAA1310 Gly560Val G560V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1310 Gly647Val G647V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9840 0.000101626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKRD36 Leu825Ser L825S not reviewed Insufficiently evaluated not reviewed unknown Array rs59466168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD36 Asp912Tyr D912Y not reviewed Insufficiently evaluated not reviewed unknown Array rs60795069 1888 3134 0.602425 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ANKRD36 Met1144Thr M1144T not reviewed Insufficiently evaluated not reviewed unknown Array rs35711845 1389 3234 0.429499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKRD36 Val1157Met V1157M not reviewed Insufficiently evaluated not reviewed unknown Array rs10194525 1181 3234 0.365182 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKRD36B Arg703Pro R703P not reviewed Insufficiently evaluated not reviewed unknown Array rs2922568 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD36B Glu496Asp E496D not reviewed Insufficiently evaluated not reviewed unknown Array rs13001728 4677 9496 0.492523 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC35F5 Glu224Lys E224K not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NCKAP5 Pro1260Gln P1260Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13016342 1657 10050 0.164876 18 0 23 0 0 - - - - - - - - - - - - - - - - 0.98 - - 4 Y 1 N - - NCKAP5 Asn1093Tyr N1093Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16841277 1835 10036 0.182842 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.544 - - 5 Y 0 N - - NCKAP5 Val604Met V604M not reviewed Insufficiently evaluated not reviewed unknown Array rs61995744 1828 9970 0.18335 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - NCKAP5 Ser600Thr S600T not reviewed Insufficiently evaluated not reviewed unknown Array rs17325719 1272 9986 0.127378 13 0 16 0 0 - - - - - - - - - - - - - - - - 0.529 - - -2 - 0 N - - ORC4 Leu56Val L56V not reviewed Insufficiently evaluated not reviewed unknown Array rs2307397 426 10758 0.0395984 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEB Trp3603Cys W3603C not reviewed Insufficiently evaluated not reviewed unknown Array rs10172023 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BAZ2B Met71Thr M71T not reviewed Insufficiently evaluated not reviewed unknown Array rs10202670 934 9790 0.0954035 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCN7A Asp1657Gly D1657G not reviewed Insufficiently evaluated not reviewed unknown Array rs35344714 778 9612 0.0809405 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SCN7A Val1596Leu V1596L not reviewed Insufficiently evaluated not reviewed unknown Array rs3791251 782 9706 0.0805687 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EVX2 Ala109Ser A109S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TTN Gln26063Arg Q26063R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln26188Arg Q26188R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln26255Arg Q26255R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln32560Arg Q32560R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser25931Phe S25931F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ser26056Phe S26056F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ser26123Phe S26123F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ser32428Phe S32428F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ala25529Thr A25529T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala25654Thr A25654T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala25721Thr A25721T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala32026Thr A32026T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala25108Val A25108V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala25233Val A25233V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala25300Val A25300V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala31605Val A31605V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala23473Thr A23473T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala23598Thr A23598T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala23665Thr A23665T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala29970Thr A29970T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Pro22016Leu P22016L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro22141Leu P22141L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro22208Leu P22208L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro28513Leu P28513L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ser20331Pro S20331P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser20456Pro S20456P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser20523Pro S20523P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser26828Pro S26828P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Val18826Ala V18826A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Val18951Ala V18951A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Val19018Ala V19018A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Val25323Ala V25323A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Arg17556Cys R17556C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg17681Cys R17681C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg17748Cys R17748C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg24053Cys R24053C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ala14545Val A14545V not reviewed Insufficiently evaluated not reviewed unknown Array rs12464787 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala14670Val A14670V not reviewed Insufficiently evaluated not reviewed unknown Array rs12464787 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala14737Val A14737V not reviewed Insufficiently evaluated not reviewed unknown Array rs12464787 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala21042Val A21042V not reviewed Insufficiently evaluated not reviewed unknown Array rs12464787 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Gln12829Arg Q12829R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln12954Arg Q12954R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln13021Arg Q13021R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln19326Arg Q19326R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile11621Thr I11621T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile11746Thr I11746T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile11813Thr I11813T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile18118Thr I18118T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Gln11350Arg Q11350R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln11475Arg Q11475R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln11542Arg Q11542R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln17847Arg Q17847R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val10414Ile V10414I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Val10539Ile V10539I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Val10606Ile V10606I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Val16911Ile V16911I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Asn16133Asp N16133D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Asn9636Asp N9636D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Asn9761Asp N9761D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Asn9828Asp N9828D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CCDC141 Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC141 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSIP2 Asn495Ile N495I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSIP2 Ile514Thr I514T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSIP2 Asn999Ser N999S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Thr1765Ser T1765S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSIP2 Met1787Thr M1787T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FSIP2 Asp2154Asn D2154N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FSIP2 Thr2281Met T2281M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FSIP2 Glu2323Asp E2323D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSIP2 Asp2397Val D2397V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FSIP2 Arg2588Met R2588M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FSIP2 Phe3049Leu F3049L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Leu3733Ile L3733I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSIP2 Gly3809Arg G3809R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FSIP2 Gly3889Glu G3889E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FSIP2 Asn4020Asp N4020D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FSIP2 Arg4327Gln R4327Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Phe4452Ser F4452S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FSIP2 Ser5783Phe S5783F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FSIP2 Lys5822Ile K5822I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FSIP2 Arg5864Gln R5864Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Arg6049His R6049H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKAR Tyr1262Ser Y1262S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 0 N - - DYTN Ser143Ala S143A not reviewed Insufficiently evaluated not reviewed unknown Array 296 10032 0.0295056 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - -1 - 1 N - - CXCR2 Arg248Gln R248Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733609 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - COL6A3 Thr2462Ile T2462I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Asp2224His D2224H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - KLHL30 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANO7 Asp70Asn D70N not reviewed Insufficiently evaluated not reviewed unknown Array rs34069570 222 10718 0.0207128 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - ANO7 Glu226Lys E226K not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - SLC4A11 Pro26Arg P26R not reviewed Insufficiently evaluated not reviewed unknown Array rs3810562 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RALGAPA2 Asn1488Ser N1488S not reviewed Insufficiently evaluated not reviewed unknown Array rs45484900 460 9782 0.0470251 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HCK Met104Leu M104L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HCK Met83Leu M83L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HCK Met84Leu M84L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HCK Met85Leu M85L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADIG Asp11Glu D11E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - B4GALT5 Asp368Asn D368N not reviewed Insufficiently evaluated not reviewed unknown Array rs235035 671 10758 0.0623722 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FAM65C Glu415Asp E415D not reviewed Insufficiently evaluated not reviewed unknown Array 48 10488 0.00457666 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - TSHZ2 Arg110Ser R110S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP24-1 Val205Met V205M not reviewed Insufficiently evaluated not reviewed unknown Array 142 9608 0.0147793 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C21ORF59 Glu26Ala E26A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10746 0.00130281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP12-4 Ser64Arg S64R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10660 0.000375234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - CECR2 Gln610Arg Q610R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCARF2 Ser549Leu S549L not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCARF2 Ser554Leu S554L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AIFM3 Val165Ile V165I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AIFM3 Val171Ile V171I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO18B Trp1037Ser W1037S not reviewed Insufficiently evaluated not reviewed unknown Array rs17704912 518 9876 0.0524504 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - TTC28 Glu1054Lys E1054K not reviewed Insufficiently evaluated not reviewed unknown Array 33 3234 0.0102041 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 1 N - - C22ORF33 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GGA1 Arg437Cys R437C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GGA1 Arg451Cys R451C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GGA1 Arg520Cys R520C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GGA1 Arg524Cys R524C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CYB5R3 Asp26His D26H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYB5R3 Asp49His D49H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.341 - - 3 - 1 N - - CYB5R3 Asp82His D82H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRR5 Met20Thr M20T not reviewed Insufficiently evaluated not reviewed unknown Array rs763213 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIBC2 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIBC2 Arg256His R256H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MOV10L1 Gln800Arg Q800R not reviewed Insufficiently evaluated not reviewed unknown Array rs2272837 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDAC10 Arg476Trp R476W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HDAC10 Arg496Trp R496W not reviewed Insufficiently evaluated not reviewed unknown Array rs61748567 140 10752 0.0130208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.887 - - 7 Y 2 N - - SBF1 Gly1538Ser G1538S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10372 0.000482067 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMF2 Ser608Asn S608N not reviewed Insufficiently evaluated not reviewed unknown Array rs13056405 2090 10732 0.194745 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 0 N - - ODF3B Gly131Arg G131R not reviewed Insufficiently evaluated not reviewed unknown Array 285 10056 0.0283413 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.743 - - 6 Y 1 N - - SRGAP3 Arg842His R842H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SRGAP3 Arg866His R866H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FBLN2 Ala845Thr A845T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBLN2 Ala892Thr A892T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XPC Arg463Trp R463W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - XPC Arg500Trp R500W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GRIP2 His629Arg H629R not reviewed Insufficiently evaluated not reviewed unknown Array rs4685171 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIP2 Val591Ala V591A not reviewed Insufficiently evaluated not reviewed unknown Array rs4613440 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD28 Ser726Gly S726G not reviewed Insufficiently evaluated not reviewed unknown Array rs34208188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EFHB Arg733Gln R733Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK10 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array 60 7796 0.00769625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - CLASP2 Gly210Glu G210E not reviewed Insufficiently evaluated not reviewed unknown Array 59 9462 0.00623547 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLASP2 Leu163Pro L163P not reviewed Insufficiently evaluated not reviewed unknown Array rs61738888 796 9452 0.084215 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PDCD6IP Asn555Ser N555S not reviewed Insufficiently evaluated not reviewed unknown Array rs9813017 1275 10746 0.118649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRANK1 Arg233His R233H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MLH1 Ile121Val I121V benign Insufficiently evaluated benign dominant Array 0 0 0 1 0 0 Y - - - - - - 0 Y 0 Y Y - - - - Y Y -4 - 3 N - - TTC21A Arg1007Leu R1007L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CX3CR1 Thr312Met T312M not reviewed Insufficiently evaluated not reviewed unknown Array rs3732378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CX3CR1 Val281Ile V281I not reviewed Insufficiently evaluated not reviewed unknown Array rs3732379 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM198A His227Tyr H227Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2936817 1276 3234 0.394558 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.916 - - -1 - 1 N - - C3ORF39 Arg111Cys R111C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF445 Gly836Val G836V not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.442 - - 8 Y 1 N - - IQCF3 Arg106Trp R106W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10604 9.4304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - ITIH4 Pro668Thr P668T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH12 Ala1924Gly A1924G not reviewed Insufficiently evaluated not reviewed unknown Array 93 3234 0.028757 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH12 Arg777His R777H not reviewed Insufficiently evaluated not reviewed unknown Array 110 3234 0.0340136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LMOD3 Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array rs35740823 279 9718 0.0287096 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - FRMD4B Asn770Thr N770T not reviewed Insufficiently evaluated not reviewed unknown Array 118 9762 0.0120877 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF26 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array rs11537816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR52 Lys1287Asn K1287N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPICE1 Leu275Val L275V not reviewed Insufficiently evaluated not reviewed unknown Array rs16861032 446 10758 0.0414575 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASR Ala996Ser A996S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801725 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ALDH1L1 Ala116Thr A116T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.598 - - 1 - 1 N - - KBTBD12 Gln22Lys Q22K not reviewed Insufficiently evaluated not reviewed unknown Array rs4141499 6217 9612 0.646796 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KBTBD12 Val304Leu V304L not reviewed Insufficiently evaluated not reviewed unknown Array rs61268888 1350 9784 0.13798 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MFSD1 Pro73Ser P73S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MECOM Phe153Leu F153L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9736 0.000513557 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MECOM Phe29Leu F29L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCEH1 Gln30Arg Q30R not reviewed Insufficiently evaluated not reviewed unknown Array rs2276805 5757 10756 0.535236 37 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ALG3 Ile107Val I107V not reviewed Insufficiently evaluated not reviewed unknown Array rs2233463 141 10382 0.0135812 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y -4 - 2 N - - ALG3 Ile59Val I59V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - EIF4G1 Glu768Gly E768G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EIF4G1 Glu799Gly E799G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EIF4G1 Glu876Gly E876G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.695 - - 6 Y 1 N - - EIF4G1 Glu963Gly E963G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 6 Y 1 N - - EIF4G1 Glu964Gly E964G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EIF4G1 Glu970Gly E970G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GEMC1 Ser29Pro S29P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0226 Arg17His R17H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0226 Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs61743568 978 10122 0.0966212 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - FYTTD1 Pro3Ala P3A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC402160 Ala428Val A428V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRPAP1 Ala308Thr A308T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - EVC2 Ser150Gly S150G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C4ORF23 Ile405Val I405V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM184B Arg684Cys R684C not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DCAF16 Thr129Ile T129I not reviewed Insufficiently evaluated not reviewed unknown Array rs7690457 1036 10758 0.0963004 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC149 Val7Ile V7I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DTHD1 Glu105Ala E105A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRAS1 Tyr3385Asp Y3385D not reviewed Insufficiently evaluated not reviewed unknown Array rs35933858 1563 10114 0.154538 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - FRAS1 Glu3561Asp E3561D not reviewed Insufficiently evaluated not reviewed unknown Array rs931605 1529 9664 0.158216 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - NPNT Gln176His Q176H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NPNT Gln189His Q189H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EGF Met666Ile M666I not reviewed Insufficiently evaluated not reviewed unknown Array rs2237051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PABPC4L His428Pro H428P not reviewed Insufficiently evaluated not reviewed unknown Array rs11099273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PABPC4L Val250Ile V250I not reviewed Insufficiently evaluated not reviewed unknown Array rs10009368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PABPC4L Arg210Gly R210G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF150 Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 6 Y 2 N - - GALNTL6 Ala318Ser A318S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - CLDN24 Gln207His Q207H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAT1 Tyr1250Cys Y1250C not reviewed Insufficiently evaluated not reviewed unknown Array 25 9556 0.00261616 2 0 2 2 2 - - - - 2 - - - - - - - - - - - 0.999 Y - 6 Y 3 N - - susceptibility to bipolar affective disorder (BPAD) CEP72 Met304Val M304V not reviewed Insufficiently evaluated not reviewed unknown Array rs62000999 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0947 Thr1085Ala T1085A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.046 - - 1 - 0 N - - C6 Thr702Met T702M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - RNF180 Arg529His R529H not reviewed Insufficiently evaluated not reviewed unknown Array rs76090587 357 3234 0.11039 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MAST4 Pro1930Leu P1930L not reviewed Insufficiently evaluated not reviewed unknown Array rs55882716 288 10244 0.028114 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAST4 Pro2119Leu P2119L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OCLN Trp109Arg W109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VCAN Lys529Arg K529R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - VCAN Arg839His R839H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - VCAN Phe1314Tyr F1314Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - VCAN Asp1950Tyr D1950Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PCSK1 Ser380Thr S380T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PCSK1 Ser643Thr S643T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PCSK1 Gln355Glu Q355E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PCSK1 Gln618Glu Q618E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CEP120 Arg921His R921H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP120 Gln853His Q853H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC4A9 Ala655Gly A655G not reviewed Insufficiently evaluated not reviewed unknown Array rs34298619 93 10256 0.00906786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKHD1 Thr2203Pro T2203P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKHD1-EIF4EBP3 Thr2203Pro T2203P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHGA1 Lys683Ile K683I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHGB1 Ser186Ile S186I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGB1 Lys399Glu K399E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF37 Ala463Thr A463T not reviewed Insufficiently evaluated not reviewed unknown Array 403 10140 0.0397436 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF37 Pro489Leu P489L not reviewed Insufficiently evaluated not reviewed unknown Array rs9324624 4890 10262 0.476515 38 0 51 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 1 N - - ARHGEF37 Met604Val M604V not reviewed Insufficiently evaluated not reviewed unknown Array rs1135093 7037 9870 0.712969 52 0 79 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - WWC1 Gly491Ser G491S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.922 - - 2 - 2 N - - CDHR2 Val424Ala V424A not reviewed Insufficiently evaluated not reviewed unknown Array rs11134982 10022 10754 0.931932 50 0 96 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF879 Thr112Ala T112A not reviewed Insufficiently evaluated not reviewed unknown Array rs17078988 895 3234 0.276747 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF879 Glu159Asp E159D not reviewed Insufficiently evaluated not reviewed unknown Array rs17078991 895 3234 0.276747 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RREB1 Arg1407Gln R1407Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RREB1 Arg1618Gln R1618Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.917 - - 0 - 2 N - - RREB1 Arg1673Gln R1673Q not reviewed Insufficiently evaluated not reviewed unknown Array 181 10754 0.0168309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - E2F3 Asp389Asn D389N not reviewed Insufficiently evaluated not reviewed unknown Array rs4134982 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - -1 - 0 N - - BTN3A2 Ser265Asn S265N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN3A2 Ser284Asn S284N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN2A2 Ala255Pro A255P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTN2A1 Val146Met V146M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN2A1 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN2A1 Gly390Ala G390A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZSCAN12 Cys583Arg C583R not reviewed Insufficiently evaluated not reviewed unknown Array rs1361385 1105 3234 0.341682 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZSCAN12 Arg578Gly R578G not reviewed Insufficiently evaluated not reviewed unknown Array rs1416918 1105 3234 0.341682 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HLA-A Arg89Gly R89G not reviewed Insufficiently evaluated not reviewed unknown Array rs1059459 855 10730 0.0796831 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - HLA-A Ile119Leu I119L not reviewed Insufficiently evaluated not reviewed unknown Array rs1071743 1058 7282 0.14529 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - VARS2 Val540Leu V540L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VARS2 Val710Leu V710L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VARS2 Arg1079Gln R1079Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VARS2 Arg909Gln R909Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DQA1 Ala68Val A68V not reviewed Insufficiently evaluated not reviewed unknown Array rs1048038 3738 10570 0.353642 5 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - HLA-DQA1 Arg87Thr R87T not reviewed Insufficiently evaluated not reviewed unknown Array rs1142333 2644 10190 0.25947 8 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - HLA-DQA1 Met89Ile M89I not reviewed Insufficiently evaluated not reviewed unknown Array rs1142334 2516 10132 0.248322 9 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - PPARD Gly204Glu G204E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPARD Gly263Glu G263E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPARD Gly302Glu G302E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 6 Y 1 N - - LOC100287718 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GLYATL3 Gln104Lys Q104K not reviewed Insufficiently evaluated not reviewed unknown Array rs9367358 552 3234 0.170686 20 0 25 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 1 N - - DEFB133 Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRIM2 Leu202Ser L202S not reviewed Insufficiently evaluated not reviewed unknown Array rs61753604 137 9906 0.01383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL12A1 Arg1834Gln R1834Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 9864 0.000304136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 0 - 1 N - - COL12A1 Arg670Gln R670Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARMC2 Thr546Met T546M not reviewed Insufficiently evaluated not reviewed unknown Array rs61741720 267 10758 0.0248187 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - C6ORF204 Ser140Gly S140G not reviewed Insufficiently evaluated not reviewed unknown Array rs3734381 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THEMIS Ile595Val I595V not reviewed Insufficiently evaluated not reviewed unknown Array rs675531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - THEMIS Ile630Val I630V not reviewed Insufficiently evaluated not reviewed unknown Array rs675531 7367 10758 0.684793 41 0 58 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - THEMIS Ile669Val I669V not reviewed Insufficiently evaluated not reviewed unknown Array rs675531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC285733 Val62Met V62M not reviewed Insufficiently evaluated not reviewed unknown Array rs1044303 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENPP1 Arg886Thr R886T not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HBS1L Met231Val M231V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCLAF1 Thr423Ile T423I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCLAF1 Thr425Ile T425I not reviewed Insufficiently evaluated not reviewed unknown Array rs61757627 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - NHSL1 Pro1285Ala P1285A not reviewed Insufficiently evaluated not reviewed unknown Array 53 3234 0.0163884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 1 N - - NHSL1 Pro1289Ala P1289A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - C6ORF103 Ala1389Gly A1389G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR27 Thr542Ser T542S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740334 512 10086 0.0507634 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ABCB5 Gly810Val G810V not reviewed Insufficiently evaluated not reviewed unknown Array rs62453384 3190 10758 0.296524 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C7ORF16 Leu10Arg L10R not reviewed Insufficiently evaluated not reviewed unknown Array rs36047130 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AOAH Ala234Gly A234G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGDH Val1014Ile V1014I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OGDH Val1018Ile V1018I not reviewed Insufficiently evaluated not reviewed unknown Array rs2070607 443 10758 0.0411787 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - UPP1 Thr228Met T228M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 2 N - - ZNF716 Arg50Gly R50G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF716 Val345Ile V345I not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ERV3 Gly566Arg G566R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERV3 Cys192Tyr C192Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34639489 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCF1 Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array rs1637116 2 80 0.025 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PCLO Asp3197Glu D3197E not reviewed Insufficiently evaluated not reviewed unknown Array 13 9772 0.00133033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1324L Thr697Met T697M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1324L Thr864Met T864M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - PEG10 Ser639Tyr S639Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PEG10 Ser681Tyr S681Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBXO24 Arg290His R290H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO24 Arg340His R340H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZAN Asp1100Asn D1100N not reviewed Insufficiently evaluated not reviewed unknown Array 156 9766 0.0159738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZAN Arg1124Trp R1124W not reviewed Insufficiently evaluated not reviewed unknown Array 111 10318 0.0107579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC12 Arg363Ser R363S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC12 Arg583Ser R583S not reviewed Insufficiently evaluated not reviewed unknown Array rs10953312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC12 Arg855His R855H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Pro1811Ala P1811A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Thr4071Ala T4071A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Ser4095Gly S4095G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Val4099Ala V4099A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Met4226Thr M4226T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Ser4233Gly S4233G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Glu4601Gly E4601G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC12 Thr4603Met T4603M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Ser4611Leu S4611L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC12 His4659Tyr H4659Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11766024 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRWD1 Gln607His Q607H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - ATXN7L1 Ile284Val I284V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATXN7L1 Ile408Val I408V not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDHR3 Cys529Tyr C529Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6967330 1900 9888 0.192152 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CDHR3 Thr532Ser T532S not reviewed Insufficiently evaluated not reviewed unknown Array rs73195662 578 9914 0.0583014 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 0 N - - PTPRZ1 Lys1080Gln K1080Q not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - KIAA1549 Ser849Leu S849L not reviewed Insufficiently evaluated not reviewed unknown Array rs2251220 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1549 Pro652Leu P652L not reviewed Insufficiently evaluated not reviewed unknown Array rs2774960 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1549 Arg617Gly R617G not reviewed Insufficiently evaluated not reviewed unknown Array rs2774962 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1549 Pro486Ala P486A not reviewed Insufficiently evaluated not reviewed unknown Array rs2718131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1549 Thr364Ala T364A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB19 Tyr152His Y152H not reviewed Insufficiently evaluated not reviewed unknown Array rs2948386 2102 10758 0.195389 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRSS37 Thr119Pro T119P not reviewed Insufficiently evaluated not reviewed unknown Array rs12669721 4796 10758 0.445808 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CTAGE15P Arg418Lys R418K not reviewed Insufficiently evaluated not reviewed unknown Array 19 36 0.527778 10 0 19 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - FAM115C Ser403Pro S403P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACCN3 His495Leu H495L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACCN3 Thr515Ser T515S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR86 Val248Met V248M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10410 0.000768491 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ESYT2 Ser610Gly S610G not reviewed Insufficiently evaluated not reviewed unknown Array rs2305473 2518 10758 0.234058 28 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ESYT2 Cys182Ser C182S not reviewed Insufficiently evaluated not reviewed unknown Array rs13233513 1270 10758 0.118052 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSMD1 Leu1594Val L1594V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PINX1 Thr220Ala T220A not reviewed Insufficiently evaluated not reviewed unknown Array rs17711777 8 128 0.0625 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - FAM167A Pro63Leu P63L not reviewed Insufficiently evaluated not reviewed unknown Array 229 10752 0.0212984 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - 7 Y 1 N - - SLC7A2 Ala571Thr A571T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GFRA2 Leu329Gln L329Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1128397 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GFRA2 Leu357Gln L357Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1128397 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKHD1L1 Asp3437Gly D3437G not reviewed Insufficiently evaluated not reviewed unknown Array 188 9512 0.0197645 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.78 - - 4 Y 1 N - - SQLE Gln207His Q207H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADCY8 Thr220Ala T220A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.222 - - 1 - 1 N - - NDRG1 His41Arg H41R benign Low clinical importance, Uncertain benign unknown Array rs2233318 8 10758 0.000743632 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 1.0 Y Y 1 - 4 N 0 0 Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner. TIGD5 Met568Ile M568I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEC Arg3960Cys R3960C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Arg3970Cys R3970C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Arg3978Cys R3978C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Arg3992Cys R3992C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Arg3996Cys R3996C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Arg4019Cys R4019C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Arg4129Cys R4129C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CPSF1 Val1029Leu V1029L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RPL8 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array rs11539891 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.306 - - 2 - 1 N - - C9ORF144B Arg69Trp R69W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RUSC2 Asp665Gly D665G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - TRPM6 Thr2Ile T2I not reviewed Insufficiently evaluated not reviewed unknown Array rs1333342 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KIF27 Arg300Gln R300Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35594736 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TSTD2 Ala109Asp A109D not reviewed Insufficiently evaluated not reviewed unknown Array rs10817858 1744 10758 0.162112 12 0 15 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - ABCA1 Asn1185Ser N1185S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ORM1 Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array rs1126801 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DFNB31 Asn795Lys N795K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DFNB31 Val782Ala V782A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - OR1L1 Ile65Met I65M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR144 Arg836Gly R836G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCAI Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCAI Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array rs589292 2506 9484 0.264235 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAT2L1 Pro981Leu P981L not reviewed Insufficiently evaluated not reviewed unknown Array rs10751478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETX Gln1276Glu Q1276E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - C9ORF86 Cys246Gly C246G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF86 Glu383Gln E383Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2811741 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC643596 Thr22Arg T22R not reviewed Insufficiently evaluated not reviewed unknown Array rs6606565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF173 Leu218Phe L218F not reviewed Insufficiently evaluated not reviewed unknown Array rs61759822 845 9596 0.0880575 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GTPBP6 Pro57Leu P57L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPP2R3B Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array rs66936367 862 10624 0.081137 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DHRSX Glu297Lys E297K not reviewed Insufficiently evaluated not reviewed unknown Array rs12010 2991 10750 0.278233 26 0 35 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 0 N - - MAP3K15 Ala192Thr A192T not reviewed Insufficiently evaluated not reviewed unknown Array rs5909299 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - SRPX Ser354Phe S354F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SRPX Ser393Phe S393F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MED12 Gln2120His Q2120H not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SATL1 Trp279Arg W279R not reviewed Insufficiently evaluated not reviewed unknown Array rs10126146 6245 8761 0.712818 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LOC100129520 Ser811Gly S811G not reviewed Insufficiently evaluated not reviewed unknown Array rs3135237 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100129520 Val909Ala V909A not reviewed Insufficiently evaluated not reviewed unknown Array rs3135238 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CT45A5 Gly83Arg G83R not reviewed Insufficiently evaluated not reviewed unknown Array 134 8709 0.0153864 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR101 Glu308Asp E308D not reviewed Insufficiently evaluated not reviewed unknown Array rs73637412 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.096 - - -2 - 0 N - - TSGA10IP Arg303Stop R303X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANO8 Arg687Stop R687X not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PSG1 Arg288Stop R288X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 989 7424 0.133217 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - C20ORF186 Arg138Stop R138X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZGPAT Arg305Stop R305X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZGPAT Arg314Stop R314X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZGPAT Arg334Stop R334X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BRWD1 Gln1175Stop Q1175X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UMODL1 Gln665Stop Q665X not reviewed Insufficiently evaluated not reviewed unknown Array 155 9240 0.0167749 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOC2L Ser556Leu S556L not reviewed Insufficiently evaluated not reviewed unknown Array rs35471880 489 10758 0.0454545 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.056 - - 6 Y 0 N - - MORN1 Arg253Trp R253W not reviewed Insufficiently evaluated not reviewed unknown Array rs34587196 96 10756 0.00892525 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MMEL1 Gly612Arg G612R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - FBXO2 Ser155Gly S155G not reviewed Insufficiently evaluated not reviewed unknown Array rs61731861 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LRRC38 Lys292Glu K292E not reviewed Insufficiently evaluated not reviewed unknown Array rs3013105 55 128 0.429688 42 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRC38 Leu276Phe L276F not reviewed Insufficiently evaluated not reviewed unknown Array rs2940315 8 128 0.0625 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLCNKB Leu155Val L155V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - EPHA2 Gly391Arg G391R not reviewed Insufficiently evaluated not reviewed unknown Array rs34192549 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CROCC Arg347Trp R347W not reviewed Insufficiently evaluated not reviewed unknown Array 160 10358 0.015447 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - UBR4 Leu278Ser L278S not reviewed Insufficiently evaluated not reviewed unknown Array rs61759878 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSPG2 Arg1919Cys R1919C not reviewed Insufficiently evaluated not reviewed unknown Array rs2229474 65 10674 0.00608956 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - SEPN1 Thr103Ala T103A not reviewed Insufficiently evaluated not reviewed unknown Array 111 10054 0.0110404 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SEPN1 Thr137Ala T137A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AIM1L Glu831Asp E831D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AIM1L Ile669Val I669V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BAI2 Arg1032His R1032H not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ZNF643 Cys115Tyr C115Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2272994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF210 Asp83Glu D83E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KNCN Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735709 70 10468 0.00668705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM61 Arg207Trp R207W not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.819 - - 7 Y 1 N - - DNAJC6 Val575Met V575M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - DNAJC6 Thr839Lys T839K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - NEXN Gly181Arg G181R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCBL2 Leu346Gln L346Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - CCBL2 Leu380Gln L380Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.622 - - 5 Y 1 N - - GBP1 Val413Asp V413D not reviewed Insufficiently evaluated not reviewed unknown Array 13 66 0.19697 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GBP1 Arg406Cys R406C not reviewed Insufficiently evaluated not reviewed unknown Array rs56482162 15 62 0.241935 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ABCA4 Gly1578Arg G1578R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800551 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - KCNA2 Phe365Ser F365S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - AMPD1 Arg104His R104H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AMPD1 Arg108His R108H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CD101 Leu955Phe L955F not reviewed Insufficiently evaluated not reviewed unknown Array rs34223095 458 10758 0.042573 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FLG His2463Asp H2463D benign Low clinical importance, Uncertain benign unknown Array 70 10758 0.00650678 1 0 1 0 0 0 Y - - 0 Y - - - - - - Y - - - 0.998 Y Y 3 - 4 N 0 0 Tentatively evaluated as benign. Other, much more severe null mutations cause increased susceptibility ichthyosis vulgaris, atopic eczema, and allergies. RHBG Phe81Leu F81L not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6Y1 Thr142Ile T142I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - ADAMTS4 Ala77Thr A77T not reviewed Insufficiently evaluated not reviewed unknown Array rs34448954 721 10664 0.0676107 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NDUFS2 Pro352Ala P352A not reviewed Insufficiently evaluated not reviewed unknown Array rs11576415 720 10758 0.0669269 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 1 N - - POGK Ser165Thr S165T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DCAF6 Leu589His L589H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DCAF6 Leu609His L609H not reviewed Insufficiently evaluated not reviewed unknown Array rs41271647 757 10758 0.0703662 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA0040 Asn65Lys N65K not reviewed Insufficiently evaluated not reviewed unknown Array rs3208835 1313 3234 0.405999 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMG7 Val858Ile V858I not reviewed Insufficiently evaluated not reviewed unknown Array rs2298083 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - F13B Glu388Val E388V not reviewed Insufficiently evaluated not reviewed unknown Array rs5991 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.418 Y - 5 Y 2 N - - PLEKHA6 His737Asn H737N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.22 - - 0 - 1 N - - C1ORF65 Arg458Trp R458W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GTPBP4 Arg248Cys R248C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - FAM171A1 Ser844Leu S844L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM21C Ser358Pro S358P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNA2 Gln991Lys Q991K not reviewed Insufficiently evaluated not reviewed unknown Array 51 9526 0.00535377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UNC5B Val381Met V381M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - CDH23 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4747194 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CDH23 Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array rs4747195 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SYNPO2L Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDHR1 Pro812Ser P812S not reviewed Insufficiently evaluated not reviewed unknown Array rs45584033 302 10758 0.0280721 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - FAM190B Met334Val M334V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - LIPN Ser132Leu S132L not reviewed Insufficiently evaluated not reviewed unknown Array rs41284088 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.333 - - 6 Y 1 N - - HHEX Lys204Arg K204R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -3 - 1 N - - CYP2C19 Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array rs58973490 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDZD7 Arg502Leu R502L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 6 Y 0 N - - POLL Gly264Ser G264S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLL Gly356Ser G356S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.515 - - 2 - 1 N - - TCF7L2 Ala544Val A544V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.711 Y - 2 - 2 N - - TCF7L2 Ala561Val A561V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - TCF7L2 Ala567Val A567V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - WDR11 Glu988Lys E988K not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - PTPRE Asp364Gly D364G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRE Asp422Gly D422G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - JAKMIP3 Ala654Val A654V not reviewed Insufficiently evaluated not reviewed unknown Array 683 10682 0.0639393 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCGB1C1 Glu47Asp E47D not reviewed Insufficiently evaluated not reviewed unknown Array 84 10256 0.00819033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNH1 Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array rs17849355 309 10756 0.0287282 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MUC6 Gln1735His Q1735H not reviewed Insufficiently evaluated not reviewed unknown Array 446 10668 0.0418073 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC6 Thr1552Pro T1552P not reviewed Insufficiently evaluated not reviewed unknown Array 19 74 0.256757 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SCUBE2 Thr665Ser T665S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCUBE2 Thr763Ser T763S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - SCUBE2 Phe204Tyr F204Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.357 - - -4 - 1 N - - INSC Gln415Arg Q415R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INSC Gln462Arg Q462R not reviewed Insufficiently evaluated not reviewed unknown Array rs7123855 4 10222 0.000391312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - MRGPRX3 Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733595 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100500938 Arg29Gln R29Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAT10 Pro492Ser P492S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAT10 Pro564Ser P564S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735311 195 10758 0.018126 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - KBTBD4 Asn77Ser N77S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.269 - - 0 - 1 N - - KBTBD4 Asn93Ser N93S not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM48 Gln23Pro Q23P not reviewed Insufficiently evaluated not reviewed unknown Array 144 10672 0.0134933 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRRC55 Met108Ile M108I not reviewed Insufficiently evaluated not reviewed unknown Array rs12364102 964 10758 0.0896077 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TNKS1BP1 Pro339Arg P339R not reviewed Insufficiently evaluated not reviewed unknown Array rs12364724 728 10600 0.0686792 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PCNXL3 His1822Gln H1822Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7114037 352 10170 0.0346116 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.089 - - -1 - 0 N - - XRRA1 Ala229Val A229V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736355 490 10192 0.0480769 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.758 - - 2 - 1 N - - TSKU Arg328Ser R328S not reviewed Insufficiently evaluated not reviewed unknown Array rs12805508 112 10518 0.0106484 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.114 - - 3 - 0 N - - MMP27 Lys77Arg K77R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754772 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DYNC2H1 Asn1576Lys N1576K not reviewed Insufficiently evaluated not reviewed unknown Array rs72989738 189 8650 0.0218497 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKK1 Gly451Arg G451R not reviewed Insufficiently evaluated not reviewed unknown Array rs34983219 200 10414 0.0192049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 6 Y 1 N - - OR6X1 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 8 Y 2 N - - PUS3 Pro179Ser P179S not reviewed Insufficiently evaluated not reviewed unknown Array rs35681508 314 10758 0.0291876 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP32 Ser1498Thr S1498T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP32 Ser1847Thr S1847T not reviewed Insufficiently evaluated not reviewed unknown Array rs60847789 990 10758 0.0920245 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - WNK1 Thr1459Ala T1459A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - WNK1 Thr1958Ala T1958A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - WNK1 Thr1966Ala T1966A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - WNK1 Met1561Ile M1561I not reviewed Insufficiently evaluated not reviewed unknown Array rs12828016 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - WNK1 Met2060Ile M2060I not reviewed Insufficiently evaluated not reviewed unknown Array rs12828016 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - WNK1 Met2068Ile M2068I not reviewed Insufficiently evaluated not reviewed unknown Array rs12828016 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ANO2 Pro825Leu P825L not reviewed Insufficiently evaluated not reviewed unknown Array 29 9968 0.00290931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRB4 Pro144Arg P144R not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRB4 Arg143Gly R143G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPRC5A Ile134Val I134V not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - SLC15A5 His141Gln H141Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1799516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF11 Met66Thr M66T not reviewed Insufficiently evaluated not reviewed unknown Array rs2306852 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OVCH1 Pro934Ser P934S not reviewed Insufficiently evaluated not reviewed unknown Array rs7967676 410 9642 0.0425223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - ZNF641 Gln340Pro Q340P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF641 Gln349Pro Q349P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TROAP Pro679Leu P679L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC11A2 Ser62Asn S62N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC11A2 Ser95Asn S95N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT71 Arg305Cys R305C not reviewed Insufficiently evaluated not reviewed unknown Array rs34468387 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRT72 Glu127Lys E127K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - SHMT2 Lys453Asn K453N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHMT2 Lys464Asn K464N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SHMT2 Lys474Asn K474N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALX1 His61Arg H61R not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 2 N - - GALNT4 Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9842 0.000812842 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - UHRF1BP1L Ser1058Leu S1058L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM132C Ser394Arg S394R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM132C Thr730Ser T730S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC7A1 Ala131Val A131V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - FAM194B Leu303Pro L303P not reviewed Insufficiently evaluated not reviewed unknown Array rs11618506 312 3234 0.096475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM194B Ser174Thr S174T not reviewed Insufficiently evaluated not reviewed unknown Array 268 3234 0.0828695 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C13ORF18 Thr610Met T610M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARL11 Gly65Val G65V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - OR4M1 Val107Ala V107A not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF40 Lys293Glu K293E not reviewed Insufficiently evaluated not reviewed unknown Array rs12889267 1107 10642 0.104022 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 0 N - - ARHGEF40 Ala641Pro A641P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - RPGRIP1 Met32Lys M32K not reviewed Insufficiently evaluated not reviewed unknown Array 21 9628 0.00218114 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.634 Y Y 4 Y 3 N - - ACIN1 Ser427Pro S427P not reviewed Insufficiently evaluated not reviewed unknown Array rs1885097 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACIN1 Ile271Met I271M not reviewed Insufficiently evaluated not reviewed unknown Array rs3811182 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSTR1 Ala45Glu A45E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP4K5 Thr633Met T633M not reviewed Insufficiently evaluated not reviewed unknown Array rs17780143 440 9472 0.0464527 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHH1 Gly677Arg G677R not reviewed Insufficiently evaluated not reviewed unknown Array rs61534804 790 9870 0.0800405 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - DCAF4 Lys132Thr K132T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCAF4 Lys171Thr K171T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCAF4 Lys193Thr K193T not reviewed Insufficiently evaluated not reviewed unknown Array rs17856582 570 10758 0.0529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DCAF4 Lys93Thr K93T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - ATXN3 Val142Met V142M not reviewed Insufficiently evaluated not reviewed unknown Array rs1048755 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN3 Val161Met V161M not reviewed Insufficiently evaluated not reviewed unknown Array rs1048755 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN3 Val33Met V33M not reviewed Insufficiently evaluated not reviewed unknown Array rs1048755 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATXN3 Val91Met V91M not reviewed Insufficiently evaluated not reviewed unknown Array rs1048755 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC25A47 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AHNAK2 Arg3076His R3076H not reviewed Insufficiently evaluated not reviewed unknown Array rs3000771 3714 9494 0.391194 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.233 - - 1 - 0 N - - AHNAK2 Pro2041Leu P2041L not reviewed Insufficiently evaluated not reviewed unknown Array 1480 9612 0.153974 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 1 N - - C15ORF2 Gly1010Arg G1010R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRPM1 Val605Met V605M not reviewed Insufficiently evaluated not reviewed unknown Array rs17815774 281 10624 0.0264495 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NOP10 Asp12His D12H not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 3 - 4 N - - LOC100131244 Pro320Ser P320S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STARD9 Ala977Val A977V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STARD9 Lys1706Glu K1706E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTXN2 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SECISBP2L Val710Leu V710L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - FBXL22 Val115Leu V115L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGA11 Val433Met V433M not reviewed Insufficiently evaluated not reviewed unknown Array rs2306022 611 10376 0.0588859 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PML Val718Met V718M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.593 - - 0 - 1 N - - PML Val766Met V766M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF27 Arg391Cys R391C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACSBG1 Pro77Arg P77R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 1 N - - C15ORF40 Thr14Ile T14I not reviewed Insufficiently evaluated not reviewed unknown Array 70 10756 0.006508 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF42 Thr1242Ile T1242I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGF1R Asn284Tyr N284Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 5 Y 1 N - - LINS Glu641Asp E641D not reviewed Insufficiently evaluated not reviewed unknown Array rs12157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LINS Ser472Thr S472T not reviewed Insufficiently evaluated not reviewed unknown Array rs2411837 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LINS Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array rs11247226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NPRL3 Asn184His N184H not reviewed Insufficiently evaluated not reviewed unknown Array rs73478320 108 10038 0.0107591 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPRL3 Asn5His N5H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRPL28 Tyr230Cys Y230C not reviewed Insufficiently evaluated not reviewed unknown Array rs13226 691 10758 0.0642313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - CHTF18 Arg565Trp R565W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10350 0.00125604 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.9 - - 7 Y 2 N - - IFT140 Val108Met V108M not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - SRRM2 Arg740Ser R740S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAT15 Val213Ile V213I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10362 0.000386025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NLRC3 Val936Met V936M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRC3 Ser345Thr S345T not reviewed Insufficiently evaluated not reviewed unknown Array 478 10016 0.0477236 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLX4 Ala1221Val A1221V not reviewed Insufficiently evaluated not reviewed unknown Array rs3827530 522 10758 0.048522 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.263 - - 2 - 1 N - - SLX4 Pro1122Leu P1122L not reviewed Insufficiently evaluated not reviewed unknown Array rs714181 2326 10758 0.216211 25 0 29 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SLX4 Leu671Ser L671S not reviewed Insufficiently evaluated not reviewed unknown Array 820 10758 0.0762223 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLX4 Asn457Lys N457K not reviewed Insufficiently evaluated not reviewed unknown Array 701 10750 0.0652093 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLX4 Met386Val M386V not reviewed Insufficiently evaluated not reviewed unknown Array 702 10758 0.0652538 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLX4 Arg204Cys R204C not reviewed Insufficiently evaluated not reviewed unknown Array 763 10758 0.070924 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 1 N - - PAM16 Gln114Lys Q114K not reviewed Insufficiently evaluated not reviewed unknown Array rs11989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C16ORF89 Tyr363His Y363H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF89 Lys189Asn K189N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPPED1 Glu140Lys E140K not reviewed Insufficiently evaluated not reviewed unknown Array 76 10150 0.00748768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EEF2K Asp609Asn D609N not reviewed Insufficiently evaluated not reviewed unknown Array rs55982915 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - USP48 Arg1309Cys R1309C not reviewed Insufficiently evaluated not reviewed unknown Array rs35254998 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC5A11 Phe36Leu F36L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - HS3ST4 Asp191Gly D191G not reviewed Insufficiently evaluated not reviewed unknown Array 142 9906 0.0143347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - MAPK3 Glu279Lys E279K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAPK3 Glu323Lys E323K not reviewed Insufficiently evaluated not reviewed unknown Array rs55859133 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - 0 - 0 N - - CORO1A Val397Ile V397I not reviewed Insufficiently evaluated not reviewed unknown Array rs35967690 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C16ORF93 Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS53 Gln30Arg Q30R not reviewed Insufficiently evaluated not reviewed unknown Array rs11150606 170 10194 0.0166765 13 0 19 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - CES4A Ser160Arg S160R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744399 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CES4A Ser164Arg S164R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744399 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CES4A Ser258Arg S258R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744399 2561 10072 0.254269 28 0 41 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CES8 Ser281Arg S281R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744399 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC3L Tyr75Asn Y75N not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - E2F4 Thr224Ala T224A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - FAM65A Arg890Cys R890C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744916 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - FAM65A Arg900Cys R900C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM65A Arg906Cys R906C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DPEP3 Gly121Cys G121C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN Thr19Lys T19K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HYDIN Thr29Lys T29K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS18 Pro834Ser P834S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - CTU2 Met253Val M253V not reviewed Insufficiently evaluated not reviewed unknown Array rs11549837 3940 10722 0.367469 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM38A Arg720His R720H not reviewed Insufficiently evaluated not reviewed unknown Array rs35265318 397 3232 0.122834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMG6 Lys263Gln K263Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ALOXE3 Pro11Leu P11L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - DNAH9 Arg668Gln R668Q not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LGALS9C Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array rs1812163 8 104 0.0769231 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KCNJ18 Ser15Leu S15L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNJ18 Leu211Phe L211F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNJ18 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNJ18 Asp402Glu D402E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC37B Leu844Ser L844S not reviewed Insufficiently evaluated not reviewed unknown Array rs2627107 6 10756 0.000557828 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MMP28 Lys129Glu K129E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10662 9.3791e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNRG Ala40Gly A40G not reviewed Insufficiently evaluated not reviewed unknown Array rs12944821 1785 10758 0.165923 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP9-1 Ile127Thr I127T not reviewed Insufficiently evaluated not reviewed unknown Array rs238824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP16-1 Leu357Val L357V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP16-1 Ser243Gly S243G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGA2B Ile135Thr I135T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ARHGAP27 Leu303Phe L303F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP27 Leu330Phe L330F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1267 Pro1009Leu P1009L not reviewed Insufficiently evaluated not reviewed unknown Array rs7220988 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC27 Asn182Lys N182K not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - MRPL27 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array rs17776919 275 10758 0.0255624 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAI2 Pro560Leu P560L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - DNAI2 Pro572Leu P572L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.79 - Y 7 Y 2 N - - GGA3 Glu147Gly E147G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GGA3 Glu97Gly E97G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF106 Ala45Ser A45S not reviewed Insufficiently evaluated not reviewed unknown Array rs11544990 75 3234 0.0231911 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EVPL Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNRC6C Asn511Lys N511K not reviewed Insufficiently evaluated not reviewed unknown Array rs72894058 156 10152 0.0153664 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - PGS1 Ala376Val A376V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - DNAH17 Gly1157Arg G1157R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 6 Y 2 N - - USP36 His200Asn H200N not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - BAHCC1 Arg2450His R2450H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EMILIN2 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34307586 274 10758 0.0254694 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOXHD1 Arg1090Gln R1090Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 3234 0.0170068 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MBD2 Asn273Tyr N273Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALPK2 Pro1850Leu P1850L not reviewed Insufficiently evaluated not reviewed unknown Array rs56146550 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 0 N - - ALPK2 Thr1706Met T1706M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - RBFA Lys276Gln K276Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3744873 3454 10758 0.321063 26 0 31 0 0 - - - - - - - - - - - - - - - - 0.514 - - -2 - 0 N - - LPPR3 Ile193Thr I193T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF6 Ser486Leu S486L not reviewed Insufficiently evaluated not reviewed unknown Array rs10401738 64 8626 0.00741943 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLIN4 Met802Thr M802T not reviewed Insufficiently evaluated not reviewed unknown Array rs7256712 9439 10434 0.904639 39 0 73 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLIN4 Ile734Val I734V not reviewed Insufficiently evaluated not reviewed unknown Array rs62115190 7952 9836 0.808459 32 0 52 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NDUFA11 Thr221Ala T221A not reviewed Insufficiently evaluated not reviewed unknown Array rs1678868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA6 Ala403Pro A403P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNPLA6 Ala412Pro A412P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Gln8203Lys Q8203K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZGLP1 Ile268Val I268V not reviewed Insufficiently evaluated not reviewed unknown Array rs2291473 927 10236 0.0905627 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - NOTCH3 Pro496Leu P496L benign Low clinical importance, Uncertain benign unknown Array rs11670799 168 10752 0.015625 3 0 3 0 0 ! - - - 4 Y - - - - - - Y - - - 0.993 Y Y 7 Y 4 N 0 0 Presumed benign, seen in two healthy PGP participants. NWD1 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array rs812847 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM129C Gly22Glu G22E not reviewed Insufficiently evaluated not reviewed unknown Array 203 9910 0.0204844 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.26 - - 6 Y 1 N - - FCHO1 Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCHO1 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - COPE Asp105His D105H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - ZNF208 Lys640Glu K640E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - SPINT2 Val143Leu V143L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGBP Arg2467His R2467H not reviewed Insufficiently evaluated not reviewed unknown Array rs2542330 15 114 0.131579 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FCGBP Ser1961Pro S1961P not reviewed Insufficiently evaluated not reviewed unknown Array 175 5346 0.0327348 16 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF780A Ser257Phe S257F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.874 - - 5 Y 2 N - - ZNF780A Ser258Phe S258F not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYP2A7 Arg330Trp R330W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP2A7 Arg381Trp R381W not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CYP2S1 Leu189Phe L189F not reviewed Insufficiently evaluated not reviewed unknown Array rs61736648 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5SL Glu203Lys E203K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5SL Glu236Lys E236K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CKM Glu83Gly E83G not reviewed Insufficiently evaluated not reviewed unknown Array rs11559024 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 6 Y 1 N - - ZC3H4 Ala1061Val A1061V not reviewed Insufficiently evaluated not reviewed unknown Array 189 9754 0.0193767 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 1 N - - BCAT2 Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - BCAT2 Pro215Arg P215R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10726 0.000186462 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 5 Y 3 N - - PNKP Pro20Ser P20S not reviewed Insufficiently evaluated not reviewed unknown Array rs3739168 100 10636 0.00940203 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.471 - - 3 - 1 N - - MYH14 Ala1209Glu A1209E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MYH14 Ala1217Glu A1217E not reviewed Insufficiently evaluated not reviewed unknown Array rs11669191 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MYH14 Ala1250Glu A1250E not reviewed Insufficiently evaluated not reviewed unknown Array 237 10548 0.0224687 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LOC147646 Asn39Ser N39S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC10 Arg462Ser R462S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIGLEC10 Asn152Asp N152D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC10 Asn162Asp N162D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SIGLEC6 Gly226Ser G226S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC6 Gly267Ser G267S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.845 - - 2 - 1 N - - SIGLEC6 Gly289Ser G289S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.964 - - 2 - 2 N - - ZNF880 Val12Met V12M not reviewed Insufficiently evaluated not reviewed unknown Array 290 3234 0.0896722 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERV-V2 Gln524Arg Q524R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB3 Pro288Arg P288R not reviewed Insufficiently evaluated not reviewed unknown Array 8 54 0.148148 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LILRB3 Trp205Arg W205R not reviewed Insufficiently evaluated not reviewed unknown Array rs1052973 98 7080 0.0138418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRB3 Ser122Asn S122N not reviewed Insufficiently evaluated not reviewed unknown Array rs3826750 20 62 0.322581 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KIR2DL3 His71Arg H71R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR2DL1 Gly36Asp G36D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIR2DL1 Arg37Pro R37P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIR3DP1 Leu31Val L31V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRH Ile898Val I898V not reviewed Insufficiently evaluated not reviewed unknown Array rs2288419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRH Arg1038Gln R1038Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45541434 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PTPRH Arg860Gln R860Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PTPRH Arg177Gly R177G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRH Arg355Gly R355G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - NAT14 Asp205Glu D205E not reviewed Insufficiently evaluated not reviewed unknown Array 236 9724 0.0242698 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - NLRP5 Met459Ile M459I not reviewed Insufficiently evaluated not reviewed unknown Array rs471979 980 10404 0.0941945 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ATAD2B Met415Thr M415T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - GPR113 Ala585Val A585V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR113 Ala715Val A715V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR113 Ala784Val A784V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - SLC4A1AP Arg181Cys R181C not reviewed Insufficiently evaluated not reviewed unknown Array rs9679004 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 8 Y 0 N - - PLB1 Met697Val M697V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALK Leu1033Pro L1033P benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.978 Y Y 7 Y 4 N 0 0 Tentatively evaluated as nonpathogenic, although other disruptive variants are associated with familial neuroblastoma. BIRC6 Leu3603Val L3603V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754200 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - GTF2A1L Asn225Asp N225D not reviewed Insufficiently evaluated not reviewed unknown Array rs10432667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STON1-GTF2A1L Asn916Asp N916D not reviewed Insufficiently evaluated not reviewed unknown Array rs10432667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCTN1 Arg1012Gln R1012Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DCTN1 Arg1042Gln R1042Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C2ORF81 Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 36 3234 0.0111317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTNNA2 Lys821Glu K821E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTNNA2 Lys866Glu K866E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH6 Asn3854Ser N3854S not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - POLR1A Arg339Gly R339G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TEKT4 Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array 18 112 0.160714 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.78 - - 3 - 0 N - - RFX8 Leu176Pro L176P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACOXL Leu580Phe L580F not reviewed Insufficiently evaluated not reviewed unknown Array 45 3220 0.0139752 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOSTRIN Thr238Ile T238I not reviewed Insufficiently evaluated not reviewed unknown Array rs540652 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPIG Ser585Ile S585I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTN Phe26475Leu F26475L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe26600Leu F26600L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe26667Leu F26667L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Phe32972Leu F32972L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FRZB Ala30Ser A30S not reviewed Insufficiently evaluated not reviewed unknown Array rs36077496 319 10746 0.0296855 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - -1 - 0 N - - ANKAR Met1380Ile M1380I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - HECW2 Arg796Cys R796C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - ANKZF1 Arg585Gln R585Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 9880 0.00718623 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TMEM198 Val74Gly V74G not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 8 Y 0 N - - ATG16L1 Asp37Glu D37E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATG16L1 Asp5Glu D5E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL6A3 Met2381Val M2381V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PRR21 His79Arg H79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - GPR35 Ser325Arg S325R not reviewed Insufficiently evaluated not reviewed unknown Array rs3749172 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF202 Ala74Thr A74T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGM3 Arg571Gln R571Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BFSP1 Gly220Ser G220S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC23B Pro415Leu P415L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CRNKL1 Arg52Trp R52W not reviewed Insufficiently evaluated not reviewed unknown Array 142 10740 0.0132216 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - PAX1 Ala127Val A127V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 2 N - - TMEM90B Pro129Leu P129L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.859 - - 7 Y 2 N - - ZNF341 Thr699Met T699M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHCY Ile64Val I64V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AHCY Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array rs11552695 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GDF5 Gln376His Q376H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - -1 - 1 N - - C20ORF4 Val48Leu V48L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPIN3 Val355Leu V355L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730990 254 10758 0.0236103 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - NCOA3 Gln596His Q596H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AURKA Met373Val M373V not reviewed Insufficiently evaluated not reviewed unknown Array rs33923703 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNAS Ala269Thr A269T not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CDH26 Asn404Ser N404S not reviewed Insufficiently evaluated not reviewed unknown Array rs28409250 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAF4 Gln479His Q479H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - GTPBP5 His262Gln H262Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - COL9A3 Pro296Leu P296L not reviewed Insufficiently evaluated not reviewed unknown Array rs45628843 480 10756 0.0446263 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.314 Y Y 7 Y 3 N - - LIME1 Leu250Pro L250P not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - TMPRSS15 Lys77Arg K77R not reviewed Insufficiently evaluated not reviewed unknown Array rs2824804 757 10756 0.0703793 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.802 - - -3 - 0 N - - LTN1 Val807Ile V807I not reviewed Insufficiently evaluated not reviewed unknown Array rs34635840 840 10758 0.0780814 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - UMODL1 Arg447Gln R447Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - U2AF1 Ser61Pro S61P not reviewed Insufficiently evaluated not reviewed unknown Array rs3204317 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 3 - 0 N - - TRPM2 Leu588Phe L588F not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MICAL3 Arg749Gln R749Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Leu1504Val L1504V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEZ6L Pro199Ala P199A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 2 - 2 N - - TBC1D10A Ile341Met I341M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SEC14L3 Leu88Pro L88P not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 7 Y 1 N - - LOC730005 Ala151Gly A151G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC730005 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF30 Pro946Leu P946L not reviewed Insufficiently evaluated not reviewed unknown Array 40 3234 0.0123686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF30 Ser221Arg S221R not reviewed Insufficiently evaluated not reviewed unknown Array 52 3234 0.0160792 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMPRSS6 Val289Leu V289L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10630 0.00084666 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - BAIAP2L2 Arg529Cys R529C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10408 0.000288239 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SUN2 Gly671Ser G671S not reviewed Insufficiently evaluated not reviewed unknown Array rs2072797 878 10758 0.0816137 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 1 N - - SUN2 Leu89Arg L89R not reviewed Insufficiently evaluated not reviewed unknown Array rs35496634 858 10758 0.0797546 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.197 - - 6 Y 0 N - - PRR5-ARHGAP8 Pro506Leu P506L not reviewed Insufficiently evaluated not reviewed unknown Array 1539 10758 0.143056 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CELSR1 Arg2326Trp R2326W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10558 0.000284144 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - IL17RC Pro322Leu P322L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL17RC Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL17RC Pro408Leu P408L not reviewed Insufficiently evaluated not reviewed unknown Array 352 10758 0.0327198 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.141 - - 7 Y 0 N - - IRAK2 Thr508Met T508M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - GRIP2 Val751Ala V751A not reviewed Insufficiently evaluated not reviewed unknown Array rs9845816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRANK1 Glu1090Gly E1090G not reviewed Insufficiently evaluated not reviewed unknown Array rs11712950 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 6 Y 1 N - - DLEC1 Glu264Lys E264K not reviewed Insufficiently evaluated not reviewed unknown Array 121 10026 0.0120686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAA1 Val294Ala V294A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACAA1 Val387Ala V387A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229528 310 10758 0.0288158 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.459 - - 2 - 1 N - - CCBP2 Val41Ala V41A not reviewed Insufficiently evaluated not reviewed unknown Array rs2228467 533 10758 0.0495445 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - FAM198A Gly539Ser G539S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732858 464 3234 0.143476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 1 N - - ZNF445 Met423Ile M423I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TDGF1 Tyr27Asp Y27D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRSS45 Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array rs58830807 2430 10378 0.234149 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRSS45 Pro130Leu P130L not reviewed Insufficiently evaluated not reviewed unknown Array rs58943210 2360 10164 0.232192 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIF9 Thr200Ile T200I not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 3 - 1 N - - MAP4 His1135Arg H1135R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA3G Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10746 0.00158198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FLNB Val1502Met V1502M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MORC1 Arg619Thr R619T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 3 - 1 N - - CASR Arg1000Gly R1000G not reviewed Insufficiently evaluated not reviewed unknown Array rs1042636 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - C3ORF25 Arg436Gln R436Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXND1 Val679Met V679M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOPBP1 Arg309Cys R309C not reviewed Insufficiently evaluated not reviewed unknown Array 658 9480 0.0694093 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 1 N - - PPP2R3A Gly78Arg G78R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 2 N - - PCCB Thr324Ile T324I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - C3ORF79 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs3732619 347 9870 0.035157 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGEF26 Val29Leu V29L not reviewed Insufficiently evaluated not reviewed unknown Array rs12493885 8939 9936 0.899658 46 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRIQ4 Arg294Ser R294S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10154 0.00147725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCL6 Arg459Cys R459C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - ZNF732 Trp568Arg W568R not reviewed Insufficiently evaluated not reviewed unknown Array 669 3234 0.206865 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF732 Ala23Asp A23D not reviewed Insufficiently evaluated not reviewed unknown Array 144 3232 0.0445545 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF721 Lys116Arg K116R not reviewed Insufficiently evaluated not reviewed unknown Array 66 10666 0.00618789 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -3 - 1 N - - MFSD7 Pro193Leu P193L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 7 Y 0 N - - RNF212 Gln173Arg Q173R not reviewed Insufficiently evaluated not reviewed unknown Array rs615381 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF212 Gln144His Q144H not reviewed Insufficiently evaluated not reviewed unknown Array rs614945 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FGFR3 Pro337Ser P337S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FGFR3 Pro449Ser P449S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735104 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 3 - 2 N - - FGFR3 Pro451Ser P451S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9980 0.00340681 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DOK7 Gly248Arg G248R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PSAPL1 Gln374Lys Q374K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR1 His108Arg H108R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR1 His248Arg H248R not reviewed Insufficiently evaluated not reviewed unknown Array rs41268387 46 10198 0.00451069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ZNF518B His266Gln H266Q not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - GBA3 Arg213Pro R213P not reviewed Insufficiently evaluated not reviewed unknown Array rs17612341 197 9644 0.0204272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DTHD1 Arg387Cys R387C not reviewed Insufficiently evaluated not reviewed unknown Array rs12507599 809 3234 0.250155 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DTHD1 Arg552Cys R552C not reviewed Insufficiently evaluated not reviewed unknown Array rs12507599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DTHD1 Arg497His R497H not reviewed Insufficiently evaluated not reviewed unknown Array rs9654132 712 3234 0.220161 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DTHD1 Arg662His R662H not reviewed Insufficiently evaluated not reviewed unknown Array rs9654132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AFM Arg549Ser R549S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - ADH1C Ser55Asn S55N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100288276 Met203Thr M203T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCOC Phe22Leu F22L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - WWC2 Arg979Cys R979C not reviewed Insufficiently evaluated not reviewed unknown Array rs45470696 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - LOC345643 Arg247Trp R247W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD31 Arg758Gly R758G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POC5 His11Arg H11R not reviewed Insufficiently evaluated not reviewed unknown Array rs2307111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POC5 His36Arg H36R not reviewed Insufficiently evaluated not reviewed unknown Array rs2307111 5197 9560 0.543619 51 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR98 Ser3646Pro S3646P not reviewed Insufficiently evaluated not reviewed unknown Array rs13171868 53 9672 0.00547973 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CAST Cys395Ser C395S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIX1 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - GIN1 Pro139Arg P139R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.916 - - 5 Y 2 N - - TMEM232 Ile596Thr I596T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHA11 Thr399Ile T399I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB11 Pro449Ala P449A not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - PCDHGB5 Leu521Pro L521P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGEF37 Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array rs55915030 1101 10138 0.108601 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARHGEF37 Ser518Arg S518R not reviewed Insufficiently evaluated not reviewed unknown Array rs7732714 1300 10500 0.12381 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 0 N - - C5ORF54 Lys67Arg K67R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CDHR2 Leu1164Met L1164M not reviewed Insufficiently evaluated not reviewed unknown Array rs17078347 1715 10758 0.159416 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C5ORF60 Trp236Arg W236R not reviewed Insufficiently evaluated not reviewed unknown Array rs62405726 319 3230 0.0987616 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF146 Ser503Pro S503P not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0319 Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0319 Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POM121L2 Pro591Thr P591T not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POM121L2 Gly310Ala G310A not reviewed Insufficiently evaluated not reviewed unknown Array 93 3234 0.028757 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POM121L2 Pro49Thr P49T not reviewed Insufficiently evaluated not reviewed unknown Array 86 3234 0.0265925 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HIST1H1B Ala211Thr A211T not reviewed Insufficiently evaluated not reviewed unknown Array rs34144478 417 10758 0.0387619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR5V1 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP57 Arg313Gly R313G not reviewed Insufficiently evaluated not reviewed unknown Array 64 6496 0.00985222 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HLA-F Pro71Gln P71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17875380 65 7500 0.00866667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-A Pro208Ala P208A not reviewed Insufficiently evaluated not reviewed unknown Array rs1136741 10 90 0.111111 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DHX16 Phe500Ile F500I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX16 Phe560Ile F560I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC39A7 Phe54Leu F54L not reviewed Insufficiently evaluated not reviewed unknown Array 116 10512 0.011035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR46 Val287Ala V287A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH8 Thr4440Met T4440M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - 2 - 1 N - - C6ORF132 Leu515Pro L515P not reviewed Insufficiently evaluated not reviewed unknown Array rs9394866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCC10 Ala1059Ser A1059S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLA2G7 Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - EFHC1 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ZNF451 Pro597Leu P597L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CEP57L1 Trp305Arg W305R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743581 1270 10758 0.118052 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 1 N - - GTF3C6 Ile197Thr I197T not reviewed Insufficiently evaluated not reviewed unknown Array rs41289884 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - RFPL4B Val29Met V29M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THEMIS Ile157Val I157V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - THEMIS Ile192Val I192V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - AHI1 Arg548His R548H not reviewed Insufficiently evaluated not reviewed unknown Array rs35433555 118 9600 0.0122917 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.771 Y Y 1 - 3 N - - IL20RA Ser177Tyr S177Y not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 5 Y 2 N - - ZBTB2 Leu222Met L222M not reviewed Insufficiently evaluated not reviewed unknown Array rs56013233 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SYNE1 Ser3346Tyr S3346Y not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 5 Y 2 N - - SYNE1 Ser3353Tyr S3353Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CNKSR3 Arg393Gln R393Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - AGPAT4 Leu53Met L53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - TCP10L2 Gly232Arg G232R not reviewed Insufficiently evaluated not reviewed unknown Array 98 3234 0.030303 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FOXK1 Ala680Val A680V not reviewed Insufficiently evaluated not reviewed unknown Array rs71529310 64 9500 0.00673684 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0415 Leu375Gln L375Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11772411 500 10268 0.048695 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - FBXL18 Asn552Lys N552K not reviewed Insufficiently evaluated not reviewed unknown Array rs33941092 159 10304 0.0154309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - 1 - 1 N - - FSCN1 Thr311Met T311M not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 2 - 0 N - - ZNF12 Thr219Ile T219I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF12 Thr257Ile T257I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10680 0.00065543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ETV1 Ser42Gly S42G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ETV1 Ser60Gly S60G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ETV1 Ser82Gly S82G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCB5 Ile1093Thr I1093T not reviewed Insufficiently evaluated not reviewed unknown Array rs60197951 237 10758 0.0220301 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGC87042 Ile210Thr I210T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGC87042 Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGC87042 Glu30Lys E30K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM188B Val513Ile V513I not reviewed Insufficiently evaluated not reviewed unknown Array rs78722842 443 10526 0.0420863 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - FAM188B Met655Val M655V not reviewed Insufficiently evaluated not reviewed unknown Array rs10215354 3181 10200 0.311863 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNS3 Leu1098Val L1098V not reviewed Insufficiently evaluated not reviewed unknown Array 47 9910 0.00474268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - TYW1B Thr7Ile T7I not reviewed Insufficiently evaluated not reviewed unknown Array rs73131518 507 3234 0.156772 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DBF4 Lys579Glu K579E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747462 97 10688 0.0090756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - SAMD9 Ser86Phe S86F not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - MUC12 Val17Ile V17I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC12 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC12 Arg171Gln R171Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC12 Ser564Phe S564F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC12 Lys641Asn K641N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Ser1493Thr S1493T not reviewed Insufficiently evaluated not reviewed unknown Array 9 96 0.09375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 1 N - - CDHR3 Val55Met V55M not reviewed Insufficiently evaluated not reviewed unknown Array rs35008315 1621 9750 0.166256 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 1 N - - CDHR3 Gln61His Q61H not reviewed Insufficiently evaluated not reviewed unknown Array rs34426483 1618 9724 0.166392 14 0 15 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - TFEC Asp34Asn D34N not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.761 - - -1 - 1 N - - KIAA1549 Gln1198Arg Q1198R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBXAS1 Thr383Asn T383N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBXAS1 Thr451Asn T451N not reviewed Insufficiently evaluated not reviewed unknown Array rs5763 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBXAS1 Thr497Asn T497N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM115C Glu734Gln E734Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC100128542 Asp68Glu D68E not reviewed Insufficiently evaluated not reviewed unknown Array rs28505524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB8 Val542Ile V542I not reviewed Insufficiently evaluated not reviewed unknown Array rs56198402 299 10758 0.0277933 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMUB1 Arg174Ser R174S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10740 0.00158287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - PTPRN2 Gln1015His Q1015H not reviewed Insufficiently evaluated not reviewed unknown Array rs61757813 89 10704 0.00831465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - -1 - 1 N - - PTPRN2 Gln986His Q986H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPRN2 Gln998His Q998H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ESYT2 Ser584Pro S584P not reviewed Insufficiently evaluated not reviewed unknown Array rs2305475 2434 10758 0.22625 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WDR60 Pro559Leu P559L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9726 0.000411268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SGK223 Ala1111Thr A1111T not reviewed Insufficiently evaluated not reviewed unknown Array rs12549973 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SGK223 Ser313Arg S313R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RP1L1 Glu1762Lys E1762K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10198 0.00058835 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HR Arg620Gln R620Q not reviewed Insufficiently evaluated not reviewed unknown Array 211 10722 0.0196792 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 0 - 2 N - - WHSC1L1 Pro795Thr P795T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - ADAM9 Asn283Lys N283K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - 1 - 1 N - - PXDNL Phe94Ser F94S not reviewed Insufficiently evaluated not reviewed unknown Array 4 8948 0.000447027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - C8ORF34 Ala512Thr A512T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ODF1 Pro223Thr P223T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10578 0.0103044 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FZD6 Met313Leu M313L not reviewed Insufficiently evaluated not reviewed unknown Array rs3808553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PKHD1L1 Thr1349Asn T1349N not reviewed Insufficiently evaluated not reviewed unknown Array 91 9554 0.00952481 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - SLC30A8 Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATAD2 Cys1362Arg C1362R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FLJ43860 Val531Met V531M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC His1290Arg H1290R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC His1300Arg H1300R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC His1308Arg H1308R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC His1322Arg H1322R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC His1326Arg H1326R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC His1349Arg H1349R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC His1459Arg H1459R not reviewed Insufficiently evaluated not reviewed unknown Array rs55895668 6006 10610 0.56607 37 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OPLAH Arg997Cys R997C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10472 0.000859434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPAA1 Lys621Asn K621N not reviewed Insufficiently evaluated not reviewed unknown Array rs13255101 14 9950 0.00140704 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - ZNF7 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 2 - 0 N - - JAK2 Leu393Val L393V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230723 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 0 - 0 N - - TOPORS Asn684Asp N684D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CCL27 Leu96Phe L96F not reviewed Insufficiently evaluated not reviewed unknown Array rs11575584 492 10758 0.0457334 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 1 N - - ANKRD18A Asn484Ser N484S not reviewed Insufficiently evaluated not reviewed unknown Array rs2996347 32 112 0.285714 22 0 26 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 0 N - - ANKRD18A Glu130Lys E130K not reviewed Insufficiently evaluated not reviewed unknown Array rs1832313 58 126 0.460317 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRPM6 Lys1579Glu K1579E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PCSK5 Glu1079Ala E1079A not reviewed Insufficiently evaluated not reviewed unknown Array rs2842480 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCSK5 Gly1090Ser G1090S not reviewed Insufficiently evaluated not reviewed unknown Array rs2643325 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM75D1 Asn1159Lys N1159K not reviewed Insufficiently evaluated not reviewed unknown Array 5 9794 0.000510516 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - C9ORF103 Lys185Thr K185T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SUSD3 Arg137Trp R137W not reviewed Insufficiently evaluated not reviewed unknown Array rs61755326 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - MURC Met61Val M61V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - OR13D1 Leu98His L98H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - PALM2 Asn305Ser N305S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLE1 Arg316Gln R316Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETX Ile2547Thr I2547T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PMPCA Ala7Glu A7E not reviewed Insufficiently evaluated not reviewed unknown Array 122 10722 0.0113785 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - HDHD1 Thr208Asn T208N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.281 - - 1 - 1 N - - FAM48B1 Thr825Ser T825S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC35A2 Pro15Thr P15T not reviewed Insufficiently evaluated not reviewed unknown Array rs55719932 106 7913 0.0133957 3 1 5 2 2 1 Y - - - - - - - - - - - - - - 0.891 - - 4 Y 2 N - - This allele is likely benign. Two males with clinical symptoms of a glycosylation defect carrying loss of function alleles of SLC35A2 are somatic mosaics, suggesting that function SLC35A2 is required for viability. ARR3 Pro351Arg P351R not reviewed Insufficiently evaluated not reviewed unknown Array 11 8761 0.00125556 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - MAGEC2 Thr246Asn T246N not reviewed Insufficiently evaluated not reviewed unknown Array rs41298484 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRMT2B Gly292Arg G292R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBMXL3 Pro921Ser P921S not reviewed Insufficiently evaluated not reviewed unknown Array 203 2481 0.0818218 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WDR44 Ala264Thr A264T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UTP14A Val204Met V204M not reviewed Insufficiently evaluated not reviewed unknown Array rs35183830 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTP14A Val435Ala V435A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AFF2 Lys15Arg K15R not reviewed Insufficiently evaluated not reviewed unknown Array rs241084 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - IDS Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y -4 - 2 N - - IDS Val223Ile V223I not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.594 Y Y -4 - 3 N - - MAMLD1 Asn637Ser N637S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GABRE Pro153Leu P153L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LOC100287428 Arg375Leu R375L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM58A Tyr221Cys Y221C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - FAM58A Tyr241Cys Y241C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MMRN2 Gln479Stop Q479X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC37A4 Arg282Stop R282X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - SLC37A4 Arg377Stop R377X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - KRTAP4-8 Cys30Stop C30X not reviewed Insufficiently evaluated not reviewed unknown Array 117 3234 0.0361781 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AOC2 Trp47Stop W47X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LTBP4 Trp1109Stop W1109X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LTBP4 Trp1139Stop W1139X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LTBP4 Trp1176Stop W1176X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 395 9868 0.0400284 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - COQ2 Arg22Stop R22X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - RAPGEF6 Arg1382Stop R1382X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLCH2 Val560Met V560M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM16 Gln240His Q240H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - -1 - 0 N - - TP73 Ala100Gly A100G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - TP73 Ala51Gly A51G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLCNKA Arg8His R8H not reviewed Insufficiently evaluated not reviewed unknown Array rs9442189 163 10720 0.0152052 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 1 - 3 N - - HMGCL Arg32Trp R32W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.144 Y - 7 Y 1 N - - GRHL3 Asp9Glu D9E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RHD Ser103Pro S103P not reviewed Insufficiently evaluated not reviewed unknown Array rs1132760 8 114 0.0701754 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RHD Asn152Thr N152T not reviewed Insufficiently evaluated not reviewed unknown Array rs1053348 91 9850 0.00923858 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF643 Pro474Arg P474R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - B4GALT2 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM59 Ala46Val A46V not reviewed Insufficiently evaluated not reviewed unknown Array rs41294776 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - RPF1 Ser10Cys S10C not reviewed Insufficiently evaluated not reviewed unknown Array rs61731619 5 10746 0.000465289 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AMPD1 Ser553Thr S553T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - AMPD1 Ser557Thr S557T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -2 - 1 N - - IGSF3 Arg660Gln R660Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - IGSF3 Arg680Gln R680Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4DIP Pro695His P695H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - PDE4DIP Pro858His P858H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD35 His740Gln H740Q not reviewed Insufficiently evaluated not reviewed unknown Array 109 10734 0.0101546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.815 - - -1 - 1 N - - MCL1 Met78Leu M78L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LINGO4 Thr98Asn T98N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732470 65 10758 0.00604201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - LCE1F Arg82Trp R82W not reviewed Insufficiently evaluated not reviewed unknown Array rs41268480 12 124 0.0967742 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FCRL3 Lys324Arg K324R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - FCRLA Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLA Arg182Gln R182Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLA Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLA Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLA Arg277Gln R277Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLA Arg372Gln R372Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCAF6 Val547Ala V547A not reviewed Insufficiently evaluated not reviewed unknown Array rs11558511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DCAF6 Val567Ala V567A not reviewed Insufficiently evaluated not reviewed unknown Array rs11558511 2212 10758 0.205614 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SELL Phe206Leu F206L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STX6 Ala122Ser A122S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DENND1B Gly563Ser G563S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGFN1 Gln418Arg Q418R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCNXL2 Thr1969Met T1969M not reviewed Insufficiently evaluated not reviewed unknown Array 52 10202 0.00509704 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 1 N - - C10ORF113 Arg72Gly R72G not reviewed Insufficiently evaluated not reviewed unknown Array rs11591355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FRMPD2 Leu1174Met L1174M not reviewed Insufficiently evaluated not reviewed unknown Array rs2258914 22 80 0.275 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CPEB3 Ser51Asn S51N not reviewed Insufficiently evaluated not reviewed unknown Array rs34021939 30 10090 0.00297324 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 0 - 0 N - - FRA10AC1 Ser251Phe S251F not reviewed Insufficiently evaluated not reviewed unknown Array rs11187583 1106 10752 0.102865 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.813 - - 5 Y 0 N - - CRTAC1 Arg572Gln R572Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - MUC5B Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC5B Pro1889Leu P1889L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF22 Leu1325Pro L1325P not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGSF22 Ala1008Thr A1008T not reviewed Insufficiently evaluated not reviewed unknown Array rs78892734 185 3234 0.0572047 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ATG13 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - FERMT3 Gly44Arg G44R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - PLCB3 Arg416His R416H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC22A20 Ala60Asp A60D not reviewed Insufficiently evaluated not reviewed unknown Array rs11605576 37 124 0.298387 22 0 30 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC22A20 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array rs12420456 41 128 0.320312 25 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUS81 Val241Glu V241E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - MUS81 Arg431His R431H not reviewed Insufficiently evaluated not reviewed unknown Array rs61754785 155 10758 0.0144079 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - TRIM64 Ile58Thr I58T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CADM1 Val5Leu V5L not reviewed Insufficiently evaluated not reviewed unknown Array 272 7898 0.0344391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOA4 Gln380His Q380H not reviewed Insufficiently evaluated not reviewed unknown Array rs5110 625 10754 0.0581179 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PAFAH1B2 Ser161Leu S161L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC37A4 Gln125His Q125H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - OR10G7 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRPR Arg254Gln R254Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TP53AIP1 Pro101Ser P101S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TP53AIP1 Pro105Ser P105S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TP53AIP1 Arg102Gly R102G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TP53AIP1 Arg98Gly R98G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHG6 Arg575Cys R575C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEKHG6 Arg607Cys R607C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - CD4 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array rs28919570 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLBD1 Ile206Met I206M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LOC100287284 Thr163Met T163M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100287284 Leu157Ser L157S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDZRN4 Ala573Glu A573E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.086 - - 3 - 0 N - - SRSF2IP Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHMT2 Ser29Leu S29L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - TBC1D30 Val589Ile V589I not reviewed Insufficiently evaluated not reviewed unknown Array rs939875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PTPRB Gln686Arg Q686R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRB Gln904Arg Q904R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10324 0.0012592 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPV4 Ser100Arg S100R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TRPV4 Ser134Arg S134R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.059 Y - 3 - 1 N - - NAA25 Arg723Gln R723Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 1 N - - C12ORF51 Gln3991Arg Q3991R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETD1B Arg891Pro R891P not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBRSL1 Pro515Leu P515L not reviewed Insufficiently evaluated not reviewed unknown Array 25 3234 0.00773036 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBRSL1 Leu679Pro L679P not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GJA3 Arg133Gln R133Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10724 0.00223797 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.976 - - 0 - 2 N - - MTUS2 Thr957Met T957M not reviewed Insufficiently evaluated not reviewed unknown Array rs61999321 260 9650 0.026943 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RXFP2 Ile580Val I580V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MZT1 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array rs1465896 8974 10408 0.862221 33 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C13ORF40 Gln1480Lys Q1480K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLHL33 Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFHX2 Ala1669Val A1669V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCAF11 Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array rs3825584 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCAF11 Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array rs3825584 3047 10758 0.283231 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUDENG Ala479Thr A479T not reviewed Insufficiently evaluated not reviewed unknown Array rs35759976 555 10718 0.051782 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - C14ORF38 Ser689Asn S689N not reviewed Insufficiently evaluated not reviewed unknown Array rs12887189 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYT16 His145Tyr H145Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - -1 - 2 N - - PAPLN Asp906Glu D906E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM189A1 Gly228Ser G228S not reviewed Insufficiently evaluated not reviewed unknown Array rs2292628 1 3234 0.000309214 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - EIF2AK4 Glu734Asp E734D not reviewed Insufficiently evaluated not reviewed unknown Array 46 9538 0.00482281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C15ORF63 Ser105Pro S105P not reviewed Insufficiently evaluated not reviewed unknown Array rs12702 31 116 0.267241 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CEP152 Leu51Phe L51F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Leu143Gln L143Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LINS Arg680Ser R680S not reviewed Insufficiently evaluated not reviewed unknown Array rs8451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LINS Ser140Thr S140T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM195A Arg130Met R130M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - UNKL Ser391Gly S391G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTX4 Arg276Lys R276K not reviewed Insufficiently evaluated not reviewed unknown Array rs2745098 71 126 0.563492 42 0 61 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PTX4 Gly216Ala G216A not reviewed Insufficiently evaluated not reviewed unknown Array rs28473314 18 118 0.152542 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PTX4 Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array rs7202502 15 126 0.119048 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF200 Asp145Glu D145E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF200 Asp146Glu D146E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - -2 - 0 N - - TMEM114 Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IL21R Thr68Met T68M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRSS54 Thr295Ala T295A not reviewed Insufficiently evaluated not reviewed unknown Array rs2241414 1027 10758 0.0954638 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRSS54 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array rs1052276 1027 10758 0.0954638 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - WWOX Val165Ala V165A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - CTU2 Gln416Arg Q416R not reviewed Insufficiently evaluated not reviewed unknown Array rs8059048 2113 10730 0.196925 21 0 26 0 0 - - - - - - - - - - - - - - - - 0.183 - - 0 - 0 N - - FAM38A His769Gln H769Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM38A Arg407Gly R407G not reviewed Insufficiently evaluated not reviewed unknown Array rs13333358 1077 3214 0.335096 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR3A2 Leu132Phe L132F not reviewed Insufficiently evaluated not reviewed unknown Array rs61422980 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM64A Val40Ile V40I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PER1 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array 52 10750 0.00483721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ELAC2 Ala501Thr A501T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 1 - 1 N - - ELAC2 Ala540Thr A540T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - STARD3 Gly198Ala G198A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT39 Gln57Arg Q57R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 0 - 1 N - - KRTAP4-8 Pro27His P27H not reviewed Insufficiently evaluated not reviewed unknown Array 104 3234 0.0321583 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP16-1 Ile404Val I404V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRT19 Thr327Met T327M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LEPREL4 Gln186Arg Q186R not reviewed Insufficiently evaluated not reviewed unknown Array rs13412 3431 10758 0.318925 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA0195 Ile790Val I790V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - FAM38B Val2463Ile V2463I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM38B Ala2050Asp A2050D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ONECUT2 Thr500Met T500M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DKFZP781G0119 Tyr316Cys Y316C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ODF3L2 Ala242Thr A242T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTBP1 Arg14Thr R14T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTBP1 Arg348Thr R348T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTBP1 Arg367Thr R367T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTBP1 Arg374Thr R374T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP8B3 Val571Ile V571I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NDUFA11 Ala186Val A186V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RFX2 Glu393Lys E393K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFX2 Glu418Lys E418K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIP10 Arg139Leu R139L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - C19ORF45 Ala121Thr A121T not reviewed Insufficiently evaluated not reviewed unknown Array 163 7612 0.0214136 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF66 Cys210Tyr C210Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10144 0.00019716 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIN3B Ile965Val I965V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - CPAMD8 Ser1103Ala S1103A not reviewed Insufficiently evaluated not reviewed unknown Array 147 10018 0.0146736 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RINL Arg443Gln R443Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5SL Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF574 Arg552Pro R552P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.91 - - 5 Y 2 N - - PSG4 Val18Leu V18L not reviewed Insufficiently evaluated not reviewed unknown Array 11 112 0.0982143 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PHLDB3 Gln239Arg Q239R not reviewed Insufficiently evaluated not reviewed unknown Array rs11083711 560 10758 0.0520543 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ETHE1 Ser93Phe S93F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.195 Y - 5 Y 1 N - - SRRM5 Ser639Arg S639R not reviewed Insufficiently evaluated not reviewed unknown Array rs3815422 516 3234 0.159555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SRRM5 Asp694Asn D694N not reviewed Insufficiently evaluated not reviewed unknown Array rs2302421 1562 10758 0.145194 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF816 Ser214Cys S214C not reviewed Insufficiently evaluated not reviewed unknown Array rs57088011 274 10756 0.0254742 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF816 Ser162Leu S162L not reviewed Insufficiently evaluated not reviewed unknown Array rs11084210 1056 10758 0.0981595 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LILRB2 Val469Ile V469I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - LILRB2 Val470Ile V470I not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR3DP1 Arg231Cys R231C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPRH Lys603Asn K603N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VIT Glu631Asp E631D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VIT Glu632Asp E632D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VIT Glu653Asp E653D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP34 Arg2934Ser R2934S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP25 Arg516Ser R516S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP25 Arg549Ser R549S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP25 Arg556Ser R556S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXO41 Ser454Thr S454T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DCTN1 Met1144Ile M1144I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DCTN1 Met1179Ile M1179I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DNAH6 Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 3234 0.0200989 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DPP10 Val238Met V238M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Val292Met V292M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DBI Met113Val M113V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DBI Met132Val M132V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DBI Met81Val M81V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTN Met25685Ile M25685I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Met25810Ile M25810I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Met25877Ile M25877I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Met32182Ile M32182I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CCDC141 Arg828Trp R828W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC141 Glu382Asp E382D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSIP2 Tyr5672Asn Y5672N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FSIP2 Leu6254Gln L6254Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKAR His433Arg H433R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKAR Cys623Tyr C623Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - SP110 Gly132Ser G132S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL6A3 Pro1611Leu P1611L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL6A3 Thr85Ser T85S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL6A3 Asp84His D84H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TRIB3 Arg153His R153H not reviewed Insufficiently evaluated not reviewed unknown Array rs35051116 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - SIRPA Thr52Ile T52I not reviewed Insufficiently evaluated not reviewed unknown Array rs17855610 104 9870 0.010537 9 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIRPA Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array rs17855611 73 9788 0.00745811 13 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIRPA Ala57Val A57V not reviewed Insufficiently evaluated not reviewed unknown Array rs17855612 293 10254 0.0285742 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC1 Thr1388Lys T1388K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - SEC23B Val408Ile V408I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM90B Gly54Arg G54R not reviewed Insufficiently evaluated not reviewed unknown Array rs6083553 116 10756 0.0107847 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 6 Y 0 N - - AHCY Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSHZ2 Leu956Phe L956F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSHZ2 Leu959Phe L959F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - SPO11 Glu9Lys E9K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM2 Pro1412Leu P1412L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL6A1 Glu956Lys E956K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10746 0.00120975 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCNT Ser2191Pro S2191P not reviewed Insufficiently evaluated not reviewed unknown Array rs34151633 454 10758 0.0422012 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.707 - - 3 - 1 N - - MMP11 Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10724 0.00195822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - MTMR3 Gln1009Arg Q1009R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SFI1 Lys402Asn K402N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFI1 Lys433Asn K433N not reviewed Insufficiently evaluated not reviewed unknown Array 112 9980 0.0112224 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - FOXRED2 His551Tyr H551Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C22ORF33 Tyr269Cys Y269C not reviewed Insufficiently evaluated not reviewed unknown Array rs9610624 1097 10758 0.101971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CARD10 Ser1028Arg S1028R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIOBP Thr447Ala T447A not reviewed Insufficiently evaluated not reviewed unknown Array 3 54 0.0555556 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - CYP2D6 Val11Met V11M not reviewed Insufficiently evaluated not reviewed unknown Array rs72552262 433 10726 0.0403692 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERHL2 Gln276Arg Q276R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOV10L1 Met37Leu M37L not reviewed Insufficiently evaluated not reviewed unknown Array rs9617066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MOV10L1 Arg162Cys R162C not reviewed Insufficiently evaluated not reviewed unknown Array rs3810971 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - MOV10L1 Val630Ile V630I not reviewed Insufficiently evaluated not reviewed unknown Array rs2340601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IL17RE Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRIP2 Pro935Leu P935L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRANK1 Gly558Ser G558S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - TTC21A Arg241Lys R241K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TTC21A Glu244Lys E244K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21A Arg1086Gln R1086Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC21A Arg1134Gln R1134Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IP6K2 Asp137Gly D137G not reviewed Insufficiently evaluated not reviewed unknown Array rs17080319 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IP6K2 Asp140Gly D140G not reviewed Insufficiently evaluated not reviewed unknown Array rs17080319 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DALRD3 Val102Met V102M not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - AMT Glu155Lys E155K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AMT Glu167Lys E167K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RNF123 Tyr38Cys Y38C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - NEK4 Phe478Leu F478L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC25A26 Thr120Met T120M not reviewed Insufficiently evaluated not reviewed unknown Array rs13874 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUCLG2 Tyr404His Y404H not reviewed Insufficiently evaluated not reviewed unknown Array rs902321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GXYLT2 Asn119Ser N119S not reviewed Insufficiently evaluated not reviewed unknown Array 30 9996 0.0030012 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ZNF717 Arg674Ser R674S not reviewed Insufficiently evaluated not reviewed unknown Array 9 92 0.0978261 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COL6A5 Asp982Gly D982G not reviewed Insufficiently evaluated not reviewed unknown Array rs11917356 695 3234 0.214904 30 0 37 0 0 - - - - - - - - - - - - - - - - 0.017 - - 4 Y 0 N - - COL6A5 Ser1539Thr S1539T not reviewed Insufficiently evaluated not reviewed unknown Array rs35886424 413 3234 0.127706 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - COL6A5 Pro1623His P1623H not reviewed Insufficiently evaluated not reviewed unknown Array 47 3234 0.0145331 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - GRK7 Arg81His R81H not reviewed Insufficiently evaluated not reviewed unknown Array rs34429284 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.188 - - 1 - 0 N - - ARHGEF26 Asp8Asn D8N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10434 0.000670883 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HTR3D Leu372Val L372V not reviewed Insufficiently evaluated not reviewed unknown Array 576 10752 0.0535714 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 0 N - - TMEM44 Ala240Val A240V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FGFRL1 Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array rs4647932 525 10716 0.0489922 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ZFYVE28 Ser602Pro S602P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFYVE28 Ser642Pro S642P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC402160 Ala420Thr A420T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM193A Ile1115Val I1115V not reviewed Insufficiently evaluated not reviewed unknown Array rs17681870 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DTHD1 Tyr443His Y443H not reviewed Insufficiently evaluated not reviewed unknown Array 123 3234 0.0380334 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DTHD1 Tyr608His Y608H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TLR10 Arg785Gln R785Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR10 Met312Thr M312T not reviewed Insufficiently evaluated not reviewed unknown Array rs11466653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TLR10 Val284Ile V284I not reviewed Insufficiently evaluated not reviewed unknown Array rs11466651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TLR10 Leu153Pro L153P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLR10 Ala149Ser A149S not reviewed Insufficiently evaluated not reviewed unknown Array rs11466649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBA6 Glu5Asp E5D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GC Cys74Phe C74F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MEPE Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADH7 Gly100Ala G100A not reviewed Insufficiently evaluated not reviewed unknown Array rs1573496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4ORF51 Asp173Asn D173N not reviewed Insufficiently evaluated not reviewed unknown Array rs10008599 1190 9966 0.119406 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NSUN2 Thr253Ala T253A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXL7 Arg95Cys R95C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10134 0.000197355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 8 Y 0 N - - UGT3A1 Cys67Gly C67G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DDX4 Ser3Pro S3P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX4 Ile138Val I138V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DDX4 Ile267Val I267V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM159B Ala111Pro A111P not reviewed Insufficiently evaluated not reviewed unknown Array rs2305962 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGNEF Pro1664Leu P1664L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD31 Asp1609Glu D1609E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD31 Pro437Leu P437L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POC5 Ile60Thr I60T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POC5 Ile85Thr I85T not reviewed Insufficiently evaluated not reviewed unknown Array rs17672542 940 9364 0.100384 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - F2R Arg305Cys R305C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 8 Y 2 N - - NRG2 Arg503His R503H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LMAN2 Ala257Ser A257S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - DOK3 Pro294Arg P294R not reviewed Insufficiently evaluated not reviewed unknown Array rs61749657 435 10636 0.0408988 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.695 - - 5 Y 1 N - - C5ORF60 Asp22His D22H not reviewed Insufficiently evaluated not reviewed unknown Array 598 3234 0.18491 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PECI Ala344Val A344V not reviewed Insufficiently evaluated not reviewed unknown Array rs7166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PECI Met47Ile M47I not reviewed Insufficiently evaluated not reviewed unknown Array rs3177253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SSR1 Arg6Gly R6G not reviewed Insufficiently evaluated not reviewed unknown Array rs62624976 365 10742 0.0339788 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EDN1 Lys197Asn K197N not reviewed Insufficiently evaluated not reviewed unknown Array rs5370 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0319 Tyr1004Cys Y1004C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0319 Tyr968Cys Y968C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTN3A2 Arg125Thr R125T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTN3A2 Arg144Thr R144T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POM121L2 Pro762Leu P762L not reviewed Insufficiently evaluated not reviewed unknown Array 254 3234 0.0785405 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - POM121L2 Trp106Cys W106C not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF136 Gly79Glu G79E not reviewed Insufficiently evaluated not reviewed unknown Array 56 2524 0.022187 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC21 Ser250Arg S250R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MICA Met174Val M174V not reviewed Insufficiently evaluated not reviewed unknown Array rs41560824 96 3234 0.0296846 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCR3 Arg174Ser R174S not reviewed Insufficiently evaluated not reviewed unknown Array rs3179003 432 10758 0.0401562 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.078 - - 3 - 0 N - - BAT2 Asp1766Gly D1766G not reviewed Insufficiently evaluated not reviewed unknown Array 160 10756 0.0148754 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MSH5 Pro774Ser P774S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2 Val427Ala V427A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4A Asp1073Gly D1073G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C4B Asp1073Gly D1073G not reviewed Insufficiently evaluated not reviewed unknown Array rs2258218 4 80 0.05 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNXB Pro2947Thr P2947T not reviewed Insufficiently evaluated not reviewed unknown Array 61 6330 0.00963665 3 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - TNXB Gly1140Asp G1140D not reviewed Insufficiently evaluated not reviewed unknown Array 66 7016 0.00940707 3 0 4 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - NOTCH4 Arg1346Pro R1346P not reviewed Insufficiently evaluated not reviewed unknown Array rs8192573 118 7512 0.0157082 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.216 - - 5 Y 1 N - - C6ORF10 Ala433Thr A433T not reviewed Insufficiently evaluated not reviewed unknown Array rs16870005 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DRB1 Phe55Leu F55L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAP2 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 107 7516 0.0142363 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB22 Val575Ile V575I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10736 0.000186289 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TREM2 Arg47His R47H pathogenic High clinical importance, Uncertain pathogenic recessive Array 21 10758 0.00195204 1 0 1 0 0 1 Y - - 0 Y 0 Y 4 Y 1 - Y - - - 1.0 Y Y 1 - 4 N 2 0 Unreported, predicted to be damaging. Other recessive mutations in this gene cause polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (a severe genetic disorder, usually lethal by age 50). HCRTR2 Phe346Val F346V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - MICAL1 Arg721His R721H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MICAL1 Arg807His R807H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - ZBTB24 Lys216Glu K216E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CENPW Arg28Leu R28L not reviewed Insufficiently evaluated not reviewed unknown Array rs41285260 724 10758 0.0672988 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.851 - - 6 Y 1 N - - THEMIS Pro621Arg P621R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - THEMIS Gly472Asp G472D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - THEMIS Gly507Asp G507D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - HIVEP2 Ala1041Val A1041V not reviewed Insufficiently evaluated not reviewed unknown Array rs34875559 136 10058 0.0135216 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - UTRN Glu2130Lys E2130K not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DACT2 Arg584Gln R584Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SUN1 His118Tyr H118Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6461378 4900 10324 0.474622 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SUN1 His139Tyr H139Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6461378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SUN1 His68Tyr H68Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6461378 66 122 0.540984 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA0415 Ser94Cys S94C not reviewed Insufficiently evaluated not reviewed unknown Array rs11549839 183 10514 0.0174054 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0415 Gln111His Q111H not reviewed Insufficiently evaluated not reviewed unknown Array rs11549840 183 10508 0.0174153 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.783 - - -1 - 1 N - - MGC87042 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MGC87042 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NACAD Ala1398Gly A1398G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF736 Ala209Glu A209E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POM121 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FKBP6 Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FKBP6 Arg24Trp R24W not reviewed Insufficiently evaluated not reviewed unknown Array 11 7918 0.00138924 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PCLO Lys4247Arg K4247R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SEMA3E Arg148Pro R148P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC12 Ala454Val A454V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Arg1165Pro R1165P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC12 Asn4428Asp N4428D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC12 Thr4584Pro T4584P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPA5 Pro13Ser P13S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBXAS1 Pro182Ser P182S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF783 Thr84Ile T84I not reviewed Insufficiently evaluated not reviewed unknown Array rs61729506 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSMD1 Thr3370Ser T3370S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MCPH1 Arg256Ile R256I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - PRSS55 Ser271Thr S271T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743179 1115 10758 0.103644 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 1 N - - PRSS55 Ser262Pro S262P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPS28 Val66Met V66M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - MRPS28 Arg48Pro R48P not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 5 Y 1 N - - NDRG1 Arg325Trp R325W benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 1.0 Y Y 7 Y 4 N 0 0 Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner. SCRIB Asp426Asn D426N not reviewed Insufficiently evaluated not reviewed unknown Array 121 10748 0.0112579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - PLEC Ala472Val A472V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala482Val A482V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala504Val A504V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala508Val A508V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala531Val A531V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala641Val A641V not reviewed Insufficiently evaluated not reviewed unknown Array rs11136336 2876 10006 0.287428 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRSS3 Gly5Ala G5A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TJP2 His992Arg H992R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FAM189A2 Pro420Ser P420S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPTLC1 Arg151Leu R151L not reviewed Insufficiently evaluated not reviewed unknown Array rs45461899 217 10756 0.0201748 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.922 Y Y 6 Y 4 N - - FSD1L Asn121Ser N121S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSD1L Asn89Ser N89S not reviewed Insufficiently evaluated not reviewed unknown Array rs28503319 113 3228 0.0350062 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASTN2 Glu36Lys E36K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AIF1L Asp101Gly D101G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - AIF1L Met151Val M151V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSC1 Thr309Asn T309N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MAP7D2 Asn138Ser N138S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP6AP2 Pro90Ala P90A not reviewed Insufficiently evaluated not reviewed unknown Array rs9014 448 8761 0.0511357 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ITM2A Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array rs35056863 61 8755 0.00696745 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ZCCHC16 Asn204Asp N204D not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - DOCK11 Val1645Ile V1645I not reviewed Insufficiently evaluated not reviewed unknown Array 20 8761 0.00228284 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.361 - - -4 - 1 N - - KIAA1210 Arg405His R405H not reviewed Insufficiently evaluated not reviewed unknown Array 66 7989 0.00826136 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - SAGE1 His387Tyr H387Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41301507 600 8759 0.068501 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.181 - - -1 - 0 N - - GPR112 Ser1690Tyr S1690Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAGEC1 Pro299Ala P299A not reviewed Insufficiently evaluated not reviewed unknown Array rs176046 1059 8745 0.121098 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MAGEC1 Leu316Val L316V not reviewed Insufficiently evaluated not reviewed unknown Array 1 33 0.030303 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRAK1 Arg194His R194H not reviewed Insufficiently evaluated not reviewed unknown Array rs11465830 156 8757 0.0178143 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - G6PD Asn414His N414H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - G6PD Asn444His N444H not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PSRC1 Lys249Stop K249X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP2C18 Tyr288Stop Y288X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP2C18 Tyr347Stop Y347X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - JAKMIP3 Arg254Stop R254X not reviewed Insufficiently evaluated not reviewed unknown Array 7 9902 0.000706927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IL34 Tyr212Stop Y212X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFCAB5 Arg15Stop R15X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EFCAB5 Arg71Stop R71X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF816 Gln633Stop Q633X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Gln12651Stop Q12651X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Gln12776Stop Q12776X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Gln12843Stop Q12843X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Gln19148Stop Q19148X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CRNKL1 Gln50Stop Q50X not reviewed Insufficiently evaluated not reviewed unknown Array 68 10742 0.00633029 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KNG1 Arg376Stop R376X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PXDNL Cys1258Stop C1258X not reviewed Insufficiently evaluated not reviewed unknown Array 132 10020 0.0131737 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF883 Arg341Stop R341X not reviewed Insufficiently evaluated not reviewed unknown Array rs10981589 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 353 10586 0.0333459 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CDK11A Val97Ala V97A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDK11B Val63Ala V63A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDK11B Val97Ala V97A not reviewed Insufficiently evaluated not reviewed unknown Array rs72909030 10 96 0.104167 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - H6PD Arg581His R581H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10726 0.000279694 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 Y Y 1 - 2 N - - FBXO6 Gln274Lys Q274K not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - LOC440563 Ala248Val A248V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC38 Cys239Arg C239R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PRDM2 Cys133Tyr C133Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRDM2 Cys334Tyr C334Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41269803 213 10758 0.0197992 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - ATP13A2 Pro1122Leu P1122L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PADI1 Ala83Val A83V not reviewed Insufficiently evaluated not reviewed unknown Array rs41265071 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSPG2 Ala4071Val A4071V not reviewed Insufficiently evaluated not reviewed unknown Array 240 10414 0.0230459 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - RHCE Pro103Ser P103S not reviewed Insufficiently evaluated not reviewed unknown Array rs1132760 1 9520 0.000105042 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHCE Leu60Ile L60I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9408 0.000212585 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL16A1 Pro1026Leu P1026L not reviewed Insufficiently evaluated not reviewed unknown Array rs2228553 134 10084 0.0132884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0754 Ser890Pro S890P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RIMS3 Ile162Val I162V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC388630 Ala367Glu A367E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PODN Thr492Met T492M not reviewed Insufficiently evaluated not reviewed unknown Array rs12567021 170 10748 0.0158169 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYB5RL Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 148 10392 0.0142417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARS2 Leu21Arg L21R not reviewed Insufficiently evaluated not reviewed unknown Array 153 10754 0.0142273 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GBP3 Ser323Leu S323L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GBP1 Gln265Lys Q265K not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL11A1 Pro1420Ala P1420A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL11A1 Pro1497Ala P1497A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL11A1 Pro1536Ala P1536A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 2 - 4 N - - COL11A1 Pro1548Ala P1548A not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - AKNAD1 Ala139Val A139V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - ITGA10 Arg320Gly R320G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.407 - - 6 Y 1 N - - ANKRD35 Ala259Thr A259T not reviewed Insufficiently evaluated not reviewed unknown Array rs41296196 331 10758 0.0307678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.222 - - 1 - 1 N - - ANXA9 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs267731 272 10758 0.0252835 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - DCAF6 Glu552Gly E552G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - DCAF6 Glu572Gly E572G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNR Val515Ile V515I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM58B Gly12Arg G12R not reviewed Insufficiently evaluated not reviewed unknown Array 1621 10292 0.157501 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IL24 Tyr125His Y125H not reviewed Insufficiently evaluated not reviewed unknown Array rs1150258 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USH2A Val4433Leu V4433L not reviewed Insufficiently evaluated not reviewed unknown Array rs111033381 183 10758 0.0170106 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - USH2A Glu3802Lys E3802K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ZNF678 Cys406Tyr C406Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1383 Pro192Leu P192L not reviewed Insufficiently evaluated not reviewed unknown Array 32 9684 0.00330442 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RYR2 Arg1888Gln R1888Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KIF26B Ala969Val A969V not reviewed Insufficiently evaluated not reviewed unknown Array 84 9886 0.00849686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CNST Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SVIL Val1473Met V1473M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SVIL Val1899Met V1899M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - CHAT Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BICC1 Asn711Thr N711T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - CDH23 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CRTAC1 Val97Ile V97I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PDZD7 Arg1031His R1031H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPRC1 Arg1288Gln R1288Q not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GBF1 Thr117Ala T117A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 1 - 1 N - - NRAP Arg215Trp R215W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - DMBT1 Arg1710His R1710H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DMBT1 Arg2328His R2328H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DMBT1 Arg2338His R2338H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10350 0.000193236 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 2 N - - MUC5B Phe3072Ser F3072S not reviewed Insufficiently evaluated not reviewed unknown Array rs55813014 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC22A18 Arg22Gln R22Q not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.316 - - 0 - 1 N - - NUP98 Cys1295Phe C1295F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM21 Glu38Gly E38G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10554 0.00246352 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - FAM160A2 Arg215Cys R215C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 8 Y 1 N - - SMPD1 Gly507Arg G507R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DNHD1 Arg3321Gln R3321Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 3234 0.0200989 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRVI1 Leu205Phe L205F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRVI1 Leu287Phe L287F not reviewed Insufficiently evaluated not reviewed unknown Array rs35468145 297 9890 0.0300303 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELF5 Asp18Asn D18N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ELF5 Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.933 - - -1 - 2 N - - CREB3L1 Gly92Ser G92S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10332 0.000967866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNKS1BP1 Pro372Ala P372A not reviewed Insufficiently evaluated not reviewed unknown Array 357 10498 0.0340065 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - YPEL4 Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR5B12 Ala308Thr A308T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MS4A6A Ile48Thr I48T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742546 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - MS4A5 Gly51Glu G51E not reviewed Insufficiently evaluated not reviewed unknown Array rs34169848 442 10758 0.0410857 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - C11ORF66 Ser362Thr S362T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C11ORF86 Arg89Trp R89W not reviewed Insufficiently evaluated not reviewed unknown Array 114 3234 0.0352505 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGEF17 Gly1704Ser G1704S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2CD3 Asp174Asn D174N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - TMEM126B Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM126B Ala198Val A198V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYTL2 Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM135 Ser410Cys S410C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM135 Ser432Cys S432C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - UBTFL1 His40Tyr H40Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBTFL1 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENDOD1 Phe387Tyr F387Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - -4 - 1 N - - DYNC2H1 Ala3680Val A3680V not reviewed Insufficiently evaluated not reviewed unknown Array rs10895391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 2 - 0 N - - DYNC2H1 Gly4143Ser G4143S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DYNC2H1 Gly4150Ser G4150S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GUCY1A2 Asp150Tyr D150Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - SIK3 Pro1078Arg P1078R not reviewed Insufficiently evaluated not reviewed unknown Array rs12225230 1721 10758 0.159974 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.877 - - 5 Y 1 N - - UPK2 Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - HEPACAM Asn324Ser N324S not reviewed Insufficiently evaluated not reviewed unknown Array 269 8478 0.0317292 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRPR Gly455Asp G455D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRPR Gly483Asp G483D not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - 4 Y 0 N - - IQSEC3 Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - B4GALNT3 Ala967Val A967V not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.607 - - 2 - 1 N - - TAS2R19 Arg152Ser R152S not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R31 Trp281Cys W281C not reviewed Insufficiently evaluated not reviewed unknown Array 147 10028 0.014659 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - TAS2R31 Leu237Phe L237F not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - TAS2R43 Met297Val M297V not reviewed Insufficiently evaluated not reviewed unknown Array 2 74 0.027027 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R43 Cys200Phe C200F not reviewed Insufficiently evaluated not reviewed unknown Array 211 9582 0.0220205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAS2R43 Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array 197 8320 0.0236779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAS2R43 Trp66Cys W66C not reviewed Insufficiently evaluated not reviewed unknown Array 84 9546 0.0087995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR19 Val116Ile V116I not reviewed Insufficiently evaluated not reviewed unknown Array rs41276680 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.098 - - -4 - 0 N - - PIK3C2G Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BHLHE41 Gln125Pro Q125P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - IPO8 Ile435Val I435V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DENND5B Gly312Asp G312D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 4 Y 1 N - - PDZRN4 Tyr833Cys Y833C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.105 - - 6 Y 0 N - - PFKM His2Leu H2L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MLL2 Pro813Leu P813L not reviewed Insufficiently evaluated not reviewed unknown Array 382 10046 0.0380251 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - LARP4 Ala8Ser A8S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LARP4 Ala9Ser A9S not reviewed Insufficiently evaluated not reviewed unknown Array 183 9488 0.0192875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BIN2 Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - 0 - 1 N - - EIF4B Leu471Gln L471Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73098020 374 9388 0.0398381 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ESYT1 Ser899Arg S899R not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - ESYT1 Ser909Arg S909R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRB Arg1228Trp R1228W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRB Arg1446Trp R1446W not reviewed Insufficiently evaluated not reviewed unknown Array rs61754227 148 10032 0.0147528 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HPD Val301Leu V301L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - WDR66 Met708Thr M708T not reviewed Insufficiently evaluated not reviewed unknown Array 85 9578 0.0088745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR109B Ile346Met I346M not reviewed Insufficiently evaluated not reviewed unknown Array rs1696351 10162 10752 0.945126 45 0 89 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SBNO1 Ser729Asn S729N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - DHX37 Arg1029Trp R1029W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - 7 Y 0 N - - SKA3 Lys386Arg K386R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SKA3 Thr381Ile T381I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNFRSF19 Arg419Gln R419Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SPATA13 Arg240Lys R240K not reviewed Insufficiently evaluated not reviewed unknown Array 232 3234 0.0717378 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - UBL3 Asn70Lys N70K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.315 - - 1 - 1 N - - C13ORF23 Pro782Thr P782T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C13ORF23 Pro804Thr P804T not reviewed Insufficiently evaluated not reviewed unknown Array rs41286143 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSC22D1 Gln756Glu Q756E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LMO7 Ser1182Ala S1182A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.197 - - -1 - 0 N - - LMO7 Ser1231Ala S1231A not reviewed Insufficiently evaluated not reviewed unknown Array rs73229904 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C13ORF40 Gly4893Ser G4893S not reviewed Insufficiently evaluated not reviewed unknown Array 518 3234 0.160173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C13ORF40 Asn1704His N1704H not reviewed Insufficiently evaluated not reviewed unknown Array 725 3232 0.224319 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C13ORF40 Pro1096Thr P1096T not reviewed Insufficiently evaluated not reviewed unknown Array 18 3232 0.00556931 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL4A2 Glu1123Gly E1123G not reviewed Insufficiently evaluated not reviewed unknown Array 105 10096 0.0104002 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 6 Y 2 N - - TEP1 Ser106Phe S106F not reviewed Insufficiently evaluated not reviewed unknown Array rs41310936 158 10758 0.0146867 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - METT11D1 Ala173Ser A173S not reviewed Insufficiently evaluated not reviewed unknown Array rs72661115 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - -1 - 1 N - - MDP1 Gly153Trp G153W not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NFATC4 Phe709Val F709V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NFATC4 Phe772Val F772V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RALGAPA1 Thr931Ala T931A not reviewed Insufficiently evaluated not reviewed unknown Array rs2274068 3733 10758 0.346998 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SYNE2 Ile181Val I181V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNE2 Ile55Val I55V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNE2 Ile6524Val I6524V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYNE2 Ile6547Val I6547V not reviewed Insufficiently evaluated not reviewed unknown Array rs45453691 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF178 Gly31Asp G31D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEL1L Asp162Gly D162G not reviewed Insufficiently evaluated not reviewed unknown Array rs11499034 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - SERPINA1 Arg247Cys R247C pathogenic High clinical importance, Uncertain pathogenic recessive Array rs28929470 28 10758 0.00260271 1 0 1 0 0 2 Y - - 0 Y - - 4 Y 3 Y Y - - - 0.948 Y Y 8 Y 4 N 2 0 Predicted to be damaging, other recessive mutations in this gene cause antitrypsin alpha 1 deficiency, and this variant is mentioned in an online database linking it to this disease. SLC25A47 Arg135Leu R135L not reviewed Insufficiently evaluated not reviewed unknown Array rs35007880 3713 10548 0.35201 16 0 20 0 0 - - - - - - - - - - - - - - - - 0.673 - - 6 Y 0 N - - CINP Asn68Lys N68K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AHNAK2 Pro4821Ser P4821S not reviewed Insufficiently evaluated not reviewed unknown Array 222 9938 0.0223385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHNAK2 Pro4755Ser P4755S not reviewed Insufficiently evaluated not reviewed unknown Array 230 9788 0.0234982 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - AHNAK2 Glu1403Lys E1403K not reviewed Insufficiently evaluated not reviewed unknown Array 352 7222 0.04874 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - AHNAK2 Thr1208Ala T1208A not reviewed Insufficiently evaluated not reviewed unknown Array rs78116894 1528 9522 0.16047 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.651 - - 1 - 0 N - - AHNAK2 Gly746Ala G746A not reviewed Insufficiently evaluated not reviewed unknown Array 169 9696 0.0174299 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - FAM189A1 Val431Ala V431A not reviewed Insufficiently evaluated not reviewed unknown Array rs2279482 349 3234 0.107916 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FAM189A1 Gly314Asp G314D not reviewed Insufficiently evaluated not reviewed unknown Array rs2306933 266 3234 0.0822511 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OTUD7A Pro591Thr P591T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - RYR3 Arg1556Gln R1556Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFAIP8L3 Asn224His N224H not reviewed Insufficiently evaluated not reviewed unknown Array rs78897873 391 10758 0.036345 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - MAN2C1 Glu229Lys E229K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - SYNM Arg761Trp R761W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Val1067Leu V1067L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPCRLTM7 Thr9Ile T9I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM8A Ala563Val A563V not reviewed Insufficiently evaluated not reviewed unknown Array rs74000555 266 10752 0.0247396 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TMEM8A Ile310Val I310V not reviewed Insufficiently evaluated not reviewed unknown Array rs2071915 6312 10742 0.5876 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EME2 Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10752 0.000930059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1 Arg4275Trp R4275W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PKD1 Arg4276Trp R4276W pathogenic High clinical importance, Uncertain pathogenic dominant Array 20 9980 0.00200401 1 0 1 1 1 2 Y - - ! Y - - 4 - 1 - Y - - - 0.999 Y Y 7 Y 4 N 2 0 Reported to cause autosomal dominant polycystic kidney disease, but it has been seen in a confirmed-healthy PGP participant and one other presumed-healthy control genome (overall frequency in randomly chosen controls is 1.7%). C16ORF59 Arg422Cys R422C not reviewed Insufficiently evaluated not reviewed unknown Array rs72768723 58 10250 0.00565854 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLYWCH1 Arg147Cys R147C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9960 0.000200803 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZSCAN10 Leu654Val L654V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732498 174 10464 0.0166284 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - SRCAP Gln1819Pro Q1819P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CETP Gly251Val G251V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - KATNB1 Arg370Cys R370C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10748 0.000837365 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - NOL3 Arg111Pro R111P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF48 Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array 214 10720 0.0199627 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYDIN Val1453Leu V1453L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - HYDIN Met497Ile M497I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - HYDIN Met514Ile M514I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Met524Ile M524I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Gly506Asp G506D not reviewed Insufficiently evaluated not reviewed unknown Array rs62040318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HYDIN Gly516Asp G516D not reviewed Insufficiently evaluated not reviewed unknown Array rs62040318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFHX3 Ala83Ser A83S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHST6 Arg162Gly R162G not reviewed Insufficiently evaluated not reviewed unknown Array 408 10740 0.0379888 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 6 Y 0 N - - TAF1C Gly429Arg G429R not reviewed Insufficiently evaluated not reviewed unknown Array rs4150167 139 10552 0.0131729 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAF1C Gly523Arg G523R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.932 - - 6 Y 2 N - - LOC100288525 Cys131Tyr C131Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC100288525 Ala26Ser A26S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLHDC4 Leu98Val L98V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array rs7404939 454 3224 0.140819 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GAS8 Arg278His R278H not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 2 N - - WDR81 Gly1615Arg G1615R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10746 0.00307091 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR81 Gly388Arg G388R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR81 Gly412Arg G412R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - 6 Y 1 N - - WDR81 Gly564Arg G564R not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SGSM2 Pro217Arg P217R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - SPATA22 Gln112Arg Q112R not reviewed Insufficiently evaluated not reviewed unknown Array rs11556563 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INCA1 Glu153Asp E153D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - DHX33 Arg621Cys R621C not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PITPNM3 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - PITPNM3 Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array rs61755430 89 10758 0.00827291 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.92 Y - -4 - 3 N - - ACADVL Arg363Trp R363W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ACADVL Arg385Trp R385W pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 2 Y - - 0 Y 0 Y 4 Y 4 Y Y - - - 0.999 Y Y 7 Y 4 N 2 0 Predicted to be damaging. Other recessive mutations in this gene cause Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency, and this variant is mentioned in an online database linking it to this disease. SLC2A4 Thr79Ser T79S not reviewed Insufficiently evaluated not reviewed unknown Array rs8192703 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ALOXE3 Pro33Ala P33A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PIK3R6 Asp423Gly D423G not reviewed Insufficiently evaluated not reviewed unknown Array 36 9750 0.00369231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYH8 Arg1784Gly R1784G not reviewed Insufficiently evaluated not reviewed unknown Array 45 10754 0.00418449 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - MYH2 Val970Ile V970I not reviewed Insufficiently evaluated not reviewed unknown Array 44 10714 0.00410678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.315 Y - -4 - 2 N - - MYH3 Ala1244Val A1244V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MYH3 Ala1198Thr A1198T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735358 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COPS3 Tyr95His Y95H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - -1 - 1 N - - TOP3A Leu584Arg L584R not reviewed Insufficiently evaluated not reviewed unknown Array rs34001746 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - AKAP10 Ile405Val I405V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGALS9 Gln179Leu Q179L not reviewed Insufficiently evaluated not reviewed unknown Array rs361498 1601 10730 0.149208 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 0 N - - RAD51L3 Asp90Gly D90G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLFN14 Asn453Ser N453S not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - KLHL10 Ile296Thr I296T not reviewed Insufficiently evaluated not reviewed unknown Array rs61752339 58 9958 0.00582446 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - 3 - 1 N - - KIF18B Pro678Arg P678R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1267 Arg304Cys R304C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - LRRC37A Thr1319Pro T1319P not reviewed Insufficiently evaluated not reviewed unknown Array rs273531 19 6754 0.00281315 6 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRRC37A2 Arg764Gly R764G not reviewed Insufficiently evaluated not reviewed unknown Array rs2667799 45 80 0.5625 16 0 30 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PRR15L Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - DLX3 Tyr237Cys Y237C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 6 Y 0 N - - CACNA1G Glu2111Lys E2111K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2183Lys E2183K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2190Lys E2190K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2201Lys E2201K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - CACNA1G Glu2206Lys E2206K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2213Lys E2213K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2224Lys E2224K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2238Lys E2238K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2246Lys E2246K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2261Lys E2261K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2272Lys E2272K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2283Lys E2283K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2294Lys E2294K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1G Glu2317Lys E2317K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - CA10 Gly90Glu G90E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - TUBD1 Ile20Val I20V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRIM65 Ser250Leu S250L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10708 0.00420247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - RHBDF2 His116Gln H116Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RHBDF2 His145Gln H145Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.306 - - -1 - 1 N - - DNAH17 Ser2854Leu S2854L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH17 Arg1220His R1220H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.257 - - 1 - 1 N - - DNAH17 Ile792Val I792V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.044 - - -4 - 0 N - - RNF213 Pro729Leu P729L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF213 Pro778Leu P778L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AATK Ala620Val A620V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPLOC4 Pro564Ala P564A not reviewed Insufficiently evaluated not reviewed unknown Array 21 10220 0.00205479 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - 2 - 0 N - - LAMA1 Ala886Val A886V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.936 - - 2 - 2 N - - FAM38B Cys1148Phe C1148F not reviewed Insufficiently evaluated not reviewed unknown Array rs35033671 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM38B Tyr409Cys Y409C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1328 Arg309Lys R309K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOXHD1 Ile194Phe I194F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SERPINBP1 Leu304Pro L304P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DKFZP781G0119 Phe548Tyr F548Y not reviewed Insufficiently evaluated not reviewed unknown Array rs8093952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IRF4 Ala355Val A355V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APC2 Val440Met V440M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - ATP8B3 Ile1232Val I1232V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP8B3 Ile1269Val I1269V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLIN4 Arg1134Cys R1134C not reviewed Insufficiently evaluated not reviewed unknown Array rs7250947 982 10320 0.095155 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.873 - - 8 Y 1 N - - PLIN4 Arg434Lys R434K not reviewed Insufficiently evaluated not reviewed unknown Array 567 10112 0.056072 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PLIN4 Leu432Val L432V not reviewed Insufficiently evaluated not reviewed unknown Array 290 10118 0.0286618 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Asn354Asp N354D not reviewed Insufficiently evaluated not reviewed unknown Array rs61730750 575 9384 0.0612745 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRR22 Pro118Leu P118L not reviewed Insufficiently evaluated not reviewed unknown Array rs3745640 1667 9898 0.168418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 7 Y 0 N - - ACER1 Gly114Ala G114A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 1 - 0 N - - LRRC8E Pro454Arg P454R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 5 Y 2 N - - FBN3 Arg2738Cys R2738C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBN3 Ile150Phe I150F not reviewed Insufficiently evaluated not reviewed unknown Array 56 10752 0.00520833 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 His9993Leu H9993L not reviewed Insufficiently evaluated not reviewed unknown Array 233 9816 0.0237368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TYK2 Ile684Ser I684S not reviewed Insufficiently evaluated not reviewed unknown Array rs12720356 737 10756 0.0685199 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 1 N - - CACNA1A Ser2221Pro S2221P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CACNA1A Ser2224Pro S2224P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ZSWIM4 Pro558Leu P558L not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - RFX1 Gly392Arg G392R not reviewed Insufficiently evaluated not reviewed unknown Array 22 8940 0.00246085 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLVAP Phe147Leu F147L not reviewed Insufficiently evaluated not reviewed unknown Array rs34920409 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL12RB1 Arg403Gln R403Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10312 9.6974e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y - 0 - 1 N - - ATP13A1 Phe1063Leu F1063L not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF486 Ile230Leu I230L not reviewed Insufficiently evaluated not reviewed unknown Array 155 10614 0.0146034 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF792 Gln118Lys Q118K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -2 - 2 N - - FFAR1 Ala83Thr A83T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SBSN Ala231Thr A231T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR87 Arg2737Gln R2737Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 3234 0.00711193 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RINL Pro402Leu P402L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SAMD4B Pro585Ser P585S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10716 9.3318e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 3 - 1 N - - SELV Leu259Pro L259P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGBP Gly4506Arg G4506R not reviewed Insufficiently evaluated not reviewed unknown Array 214 2390 0.0895398 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 6 Y 0 N - - FCGBP Glu845Asp E845D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10734 9.3161e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - ZNF526 Pro298Leu P298L not reviewed Insufficiently evaluated not reviewed unknown Array rs3810150 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ETF1 Ala415Val A415V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XRCC1 Arg559Gln R559Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2307167 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRRM5 Pro563Leu P563L not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF223 Asp179His D179H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CBLC Pro389Ser P389S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CBLC Pro435Ser P435S not reviewed Insufficiently evaluated not reviewed unknown Array 548 10758 0.0509388 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.824 Y Y 3 - 2 N - - CLASRP Ser390Cys S390C not reviewed Insufficiently evaluated not reviewed unknown Array 176 9582 0.0183678 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF541 Thr686Ser T686S not reviewed Insufficiently evaluated not reviewed unknown Array 64 3234 0.0197897 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.255 - - -2 - 1 N - - NUCB1 Glu122Lys E122K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CGB1 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array rs34962283 591 7412 0.0797356 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KLK13 His109Tyr H109Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34089525 257 10758 0.0238892 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.953 - - -1 - 2 N - - HERV-V1 Leu391Phe L391F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC646508 Glu338Gln E338Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC646508 Lys341Glu K341E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC646508 Met409Thr M409T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRA3 Ala186Thr A186T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LENG9 Ala192Thr A192T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10380 0.000578034 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB1 His301Tyr H301Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1045818 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - NLRP2 Thr198Met T198M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLRP2 Thr199Met T199M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSC5D Pro1456Ser P1456S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLF11 Gln45Arg Q45R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR113 Leu165Val L165V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.046 - - 0 - 0 N - - GPR113 Leu295Val L295V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR113 Leu364Val L364V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - PLB1 Ala976Val A976V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC27 Arg115His R115H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC728819 Asn233Lys N233K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC728819 Lys93Arg K93R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLEK Ala110Ser A110S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF89 Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array rs1863772 301 10574 0.028466 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPP10 Glu5Asp E5D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIF1 Ser1454Cys S1454C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - NEB Lys1550Arg K1550R not reviewed Insufficiently evaluated not reviewed unknown Array 28 9506 0.00294551 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - NEB Glu191Gln E191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35686968 192 10002 0.0191962 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DCAF17 His185Gln H185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3731984 297 9702 0.0306122 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.087 - - -1 - 0 N - - TTN Ser22688Leu S22688L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser22813Leu S22813L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser22880Leu S22880L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser29185Leu S29185L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Glu4719Gly E4719G not reviewed Insufficiently evaluated not reviewed unknown Array 81 9708 0.00834363 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FSIP2 Ile4532Leu I4532L not reviewed Insufficiently evaluated not reviewed unknown Array rs7565527 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASP10 Tyr403Cys Y403C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CASP10 Tyr446Cys Y446C not reviewed Insufficiently evaluated not reviewed unknown Array rs17860405 290 10758 0.0269567 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.39 Y Y 6 Y 3 N - - ZDBF2 Arg687Cys R687C not reviewed Insufficiently evaluated not reviewed unknown Array 34 9766 0.00348147 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 8 Y 0 N - - CXCR1 Ser276Thr S276T not reviewed Insufficiently evaluated not reviewed unknown Array rs2234671 1101 10758 0.102342 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLCD4 Arg325Trp R325W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733653 91 10170 0.00894788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPHKAP Asp233Asn D233N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SP110 Glu213Lys E213K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SP110 Ala134Val A134V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DIS3L2 Tyr137Cys Y137C not reviewed Insufficiently evaluated not reviewed unknown Array 10 9792 0.00102124 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - UGT1A9 Met33Thr M33T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGT1A5 Leu48Ser L48S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UGT1A5 His225Tyr H225Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT1A5 Leu248Ile L248I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UGT1A5 Val249Leu V249L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT1A4 Leu48Val L48V not reviewed Insufficiently evaluated not reviewed unknown Array rs2011425 12 122 0.0983607 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLHL30 Ala213Val A213V not reviewed Insufficiently evaluated not reviewed unknown Array rs12692216 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CRNKL1 Cys91Tyr C91Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYLK2 Pro144Ala P144A not reviewed Insufficiently evaluated not reviewed unknown Array rs34396614 165 10756 0.0153403 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - C20ORF185 Arg342Gln R342Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP40 Gly52Ser G52S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX35 Pro672Leu P672L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCOA5 Asn447Ser N447S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PREX1 Gly1010Asp G1010D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 4 Y 1 N - - ZNFX1 Val1419Met V1419M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - SLC9A8 Ala532Val A532V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSHZ2 Arg499Lys R499K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DIDO1 Ser1541Pro S1541P not reviewed Insufficiently evaluated not reviewed unknown Array 150 10750 0.0139535 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL20A1 Ala792Pro A792P not reviewed Insufficiently evaluated not reviewed unknown Array 630 10512 0.0599315 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP21-3 Cys57Tyr C57Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP12-1 Val36Met V36M not reviewed Insufficiently evaluated not reviewed unknown Array rs56135164 11 10670 0.00103093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRODH Arg191Ser R191S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PRODH Arg83Ser R83S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CLTCL1 Arg1165His R1165H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF15 Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCN2 Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array rs11557600 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCN2 Arg372Gln R372Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSBP2 Ser673Thr S673T not reviewed Insufficiently evaluated not reviewed unknown Array rs35988107 62 10314 0.00601125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - OSBP2 Met760Val M760V not reviewed Insufficiently evaluated not reviewed unknown Array rs34240867 64 10520 0.00608365 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - LOC646851 Glu113Lys E113K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUN2 Arg348Cys R348C not reviewed Insufficiently evaluated not reviewed unknown Array rs138708 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FAM83F Ser480Thr S480T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - TNRC6B Val16Met V16M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP8 Glu371Gln E371Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP8 Glu402Gln E402Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRR5-ARHGAP8 Glu493Gln E493Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JAGN1 Ile82Val I82V not reviewed Insufficiently evaluated not reviewed unknown Array rs35365817 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.336 - - -4 - 1 N - - FANCD2 Gly901Val G901V not reviewed Insufficiently evaluated not reviewed unknown Array rs35495399 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - GRIP2 Arg770Trp R770W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF20 Gln83Arg Q83R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGD5 Val553Met V553M not reviewed Insufficiently evaluated not reviewed unknown Array 19 9778 0.00194314 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSBPL10 Asn190Asp N190D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GOLGA4 Glu699Gln E699Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ULK4 Ala1261Val A1261V not reviewed Insufficiently evaluated not reviewed unknown Array rs6769117 139 9936 0.0139895 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCBP2 Tyr373Asn Y373N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BSN Ala355Thr A355T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 1 - 1 N - - MITF Asn216Ser N216S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MITF Asn272Ser N272S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MITF Asn278Ser N278S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MITF Asn327Ser N327S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MITF Asn363Ser N363S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MITF Asn378Ser N378S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MITF Asn379Ser N379S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ZNF717 Thr697Ser T697S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLDND1 His143Tyr H143Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLDND1 His238Tyr H238Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.815 - - -1 - 1 N - - CLDND1 His261Tyr H261Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP8 Lys116Arg K116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GTPBP8 Lys149Arg K149R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.079 - - -3 - 0 N - - PLXND1 Asn550Ser N550S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL6A5 Val1276Ile V1276I not reviewed Insufficiently evaluated not reviewed unknown Array 229 3234 0.0708101 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.334 - - -4 - 0 N - - COL6A5 Glu1750Asp E1750D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744488 116 3234 0.0358689 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - AMOTL2 Arg173Gln R173Q not reviewed Insufficiently evaluated not reviewed unknown Array 80 10738 0.00745018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.428 - - 0 - 1 N - - DZIP1L Arg309Gln R309Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - DZIP1L Val86Leu V86L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - LRRC34 Asp389Asn D389N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC34 Asp421Asn D421N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC31 His392Tyr H392Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 9882 0.000101194 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - ZNF732 Cys366Arg C366R not reviewed Insufficiently evaluated not reviewed unknown Array 36 3234 0.0111317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GAK Pro1260Leu P1260L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - C4ORF23 Pro267Thr P267T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LAP3 Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DTHD1 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 3234 0.0222635 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DTHD1 Arg557Gln R557Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR10 Leu682Phe L682F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BEND4 Tyr322Cys Y322C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9984 0.00020032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HOPX Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC4A4 Pro727Ser P727S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SLC4A4 Pro771Ser P771S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.21 Y - 3 - 2 N - - AFF1 Gly581Arg G581R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AFF1 Gly588Arg G588R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HERC6 Arg151His R151H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNIP3 Glu208Ala E208A not reviewed Insufficiently evaluated not reviewed unknown Array 220 10758 0.0204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OTUD4 Thr909Ile T909I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0922 Ser1173Cys S1173C not reviewed Insufficiently evaluated not reviewed unknown Array rs36113034 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - KIAA0922 Ser1174Cys S1174C not reviewed Insufficiently evaluated not reviewed unknown Array 142 10754 0.0132044 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIA2 Thr431Met T431M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRIA2 Thr478Met T478M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - RXFP1 Leu294Ile L294I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - NEK1 Ala598Thr A598T not reviewed Insufficiently evaluated not reviewed unknown Array rs33933790 587 9572 0.0613247 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - WDR17 Leu1003Val L1003V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR3 Cys28Gly C28G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - MARCH6 Ile32Met I32M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - CDH10 His394Gln H394Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.719 - - -1 - 1 N - - SPEF2 Arg421His R421H not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HEATR7B2 Lys599Asn K599N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQGAP2 Arg1459Gln R1459Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34592828 332 10758 0.0308608 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMYA5 Asp190Gly D190G not reviewed Insufficiently evaluated not reviewed unknown Array rs10942901 1276 9564 0.133417 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 1 N - - CMYA5 Gly2324Ser G2324S not reviewed Insufficiently evaluated not reviewed unknown Array rs62621912 1176 9576 0.122807 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 1 N - - CMYA5 Lys3583Glu K3583E not reviewed Insufficiently evaluated not reviewed unknown Array rs12514461 879 9524 0.0922932 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CMYA5 Pro4063Leu P4063L not reviewed Insufficiently evaluated not reviewed unknown Array rs10043986 879 9592 0.0916389 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MTX3 Ser177Arg S177R not reviewed Insufficiently evaluated not reviewed unknown Array rs9293796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSH3 Leu911Trp L911W not reviewed Insufficiently evaluated not reviewed unknown Array rs41545019 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ST8SIA4 Arg116Gln R116Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - PAM Asp832Glu D832E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAM Asp853Glu D853E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAM Asp871Glu D871E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAM Asp939Glu D939E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAM Asp940Glu D940E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM232 Val290Ile V290I not reviewed Insufficiently evaluated not reviewed unknown Array rs61978570 61 3234 0.0188621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATG12 Ile15Val I15V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AQPEP Leu54Ser L54S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DMXL1 Ala2358Thr A2358T not reviewed Insufficiently evaluated not reviewed unknown Array 478 10756 0.0444403 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - LOC728460 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP120 Lys345Arg K345R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMCO6 Leu237Pro L237P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - PCDHB1 Phe778Leu F778L not reviewed Insufficiently evaluated not reviewed unknown Array rs246679 360 10758 0.0334635 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB6 Leu684Phe L684F not reviewed Insufficiently evaluated not reviewed unknown Array rs61740378 286 10692 0.026749 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - PCDHGB1 Thr411Lys T411K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGB4 Pro465Ser P465S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHGA10 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGC5 Pro780Ala P780A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.72 - - 2 - 1 N - - ARHGEF37 Pro586Thr P586T not reviewed Insufficiently evaluated not reviewed unknown Array rs3733662 1180 10010 0.117882 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - DCTN4 Tyr206Cys Y206C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DCTN4 Tyr263Cys Y263C not reviewed Insufficiently evaluated not reviewed unknown Array rs35772018 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - DCTN4 Tyr270Cys Y270C not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NIPAL4 Ser434Leu S434L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NIPAL4 Ser453Leu S453L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743233 873 9790 0.0891726 7 0 8 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - SOX30 Cys55Arg C55R not reviewed Insufficiently evaluated not reviewed unknown Array 59 10360 0.00569498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - CDHR2 Thr1128Met T1128M not reviewed Insufficiently evaluated not reviewed unknown Array rs2291442 3042 10758 0.282766 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MAML1 Pro824Leu P824L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753466 89 10756 0.00827445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DUSP22 Ile8Val I8V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - KIF13A Phe1552Ser F1552S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIF13A Phe1565Ser F1565S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIF13A Phe1600Ser F1600S not reviewed Insufficiently evaluated not reviewed unknown Array rs12211658 34 10164 0.00334514 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - KIF13A Gln1177Pro Q1177P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIF13A Gln1190Pro Q1190P not reviewed Insufficiently evaluated not reviewed unknown Array 37 9954 0.0037171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 4 Y 1 N - - KDM1B Gly383Asp G383D not reviewed Insufficiently evaluated not reviewed unknown Array rs72840622 180 10758 0.0167317 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTN2A2 Ala126Thr A126T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTN2A2 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTN2A2 Ala336Thr A336T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.868 - - 1 - 2 N - - BTN2A1 Arg63His R63H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF192 Asp325Ala D325A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - HLA-C Leu127Val L127V not reviewed Insufficiently evaluated not reviewed unknown Array rs34592426 636 10520 0.0604563 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC44A4 Asp47Val D47V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EHMT2 Leu873Ile L873I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EHMT2 Leu907Ile L907I not reviewed Insufficiently evaluated not reviewed unknown Array 2 7524 0.000265816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TNXB Pro2731Arg P2731R not reviewed Insufficiently evaluated not reviewed unknown Array rs440160 362 6424 0.0563512 5 0 5 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 1 N - - MLN Val15Ile V15I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - C6ORF81 Lys180Ile K180I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAPK13 Ser41Leu S41L not reviewed Insufficiently evaluated not reviewed unknown Array rs55776345 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.736 - - 6 Y 1 N - - C6ORF132 Lys4Asn K4N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF226 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732354 235 10042 0.0234017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTCRA Ala281Thr A281T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743125 221 10752 0.0205543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - DST Arg3522Trp R3522W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DST Ser2148Leu S2148L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EYS Arg1515Trp R1515W not reviewed Insufficiently evaluated not reviewed unknown Array rs62415827 383 3232 0.118502 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - EYS Gln1325Glu Q1325E not reviewed Insufficiently evaluated not reviewed unknown Array rs12663622 383 3232 0.118502 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - SESN1 Arg21Thr R21T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THEMIS Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - THEMIS Ala424Thr A424T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPB41L2 Glu666Gln E666Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.153 - - -2 - 0 N - - EPB41L2 Glu998Gln E998Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61731767 365 10758 0.0339282 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - BCLAF1 Arg43Met R43M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCLAF1 Arg45Met R45M not reviewed Insufficiently evaluated not reviewed unknown Array 238 10756 0.0221272 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SUN1 Ser480Gly S480G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUN1 Ser500Gly S500G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUN1 Ser583Gly S583G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10312 9.6974e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PMS2 Met622Ile M622I not reviewed Insufficiently evaluated not reviewed unknown Array rs1805324 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.591 Y Y -1 - 3 N - - THSD7A Arg841His R841H not reviewed Insufficiently evaluated not reviewed unknown Array 430 10028 0.0428799 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - PDE1C Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMIZ2 Thr739Met T739M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMIZ2 Thr765Met T765M not reviewed Insufficiently evaluated not reviewed unknown Array 32 9920 0.00322581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.422 - - 2 - 1 N - - NACAD Ala601Val A601V not reviewed Insufficiently evaluated not reviewed unknown Array 141 3234 0.0435993 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.052 - - 2 - 0 N - - C7ORF72 Thr358Ile T358I not reviewed Insufficiently evaluated not reviewed unknown Array rs1456908 1309 3234 0.404762 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HIP1 Ser453Cys S453C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 3 - 2 N - - SAMD9 Ala454Thr A454T not reviewed Insufficiently evaluated not reviewed unknown Array rs117649834 351 10758 0.0326269 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PPP1R9A Ser1039Asn S1039N not reviewed Insufficiently evaluated not reviewed unknown Array 560 7820 0.0716113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPP1R9A Ser1057Asn S1057N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R9A Ser1079Asn S1079N not reviewed Insufficiently evaluated not reviewed unknown Array rs2240026 23 128 0.179688 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC12 Pro275Ser P275S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Pro978Leu P978L not reviewed Insufficiently evaluated not reviewed unknown Array 1490 10758 0.138502 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC17 Thr1719Lys T1719K not reviewed Insufficiently evaluated not reviewed unknown Array 7 92 0.076087 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC17 Arg1728His R1728H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CADPS2 Ile354Thr I354T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.586 - - 3 - 1 N - - CLCN1 Gln445His Q445H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ZNF862 Glu1154Lys E1154K not reviewed Insufficiently evaluated not reviewed unknown Array rs62621237 282 9702 0.0290662 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CHPF2 Gly661Ala G661A not reviewed Insufficiently evaluated not reviewed unknown Array rs3748098 600 10662 0.0562746 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.531 - - 1 - 0 N - - PTPRN2 Ala267Thr A267T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRN2 Ala284Thr A284T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10284 0.00272268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD1 Arg886Gln R886Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGK223 Gly1222Ser G1222S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFTPC Ser180Asn S180N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - KIF13B Glu1220Val E1220V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - KCNU1 Pro576Thr P576T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744028 49 9634 0.00508615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - SGK3 Ile414Ser I414S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SGK3 Ile446Ser I446S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 5 Y 1 N - - NCOA2 Met1282Ile M1282I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228591 458 10004 0.0457817 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - POP1 Leu994Val L994V not reviewed Insufficiently evaluated not reviewed unknown Array rs17856355 515 10758 0.0478714 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKHD1L1 Thr122Arg T122R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9924 0.000100765 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - KCNQ3 Thr740Met T740M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.077 Y - 2 - 1 N - - ZC3H3 Phe392Leu F392L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - EPPK1 Val1701Met V1701M not reviewed Insufficiently evaluated not reviewed unknown Array 92 10220 0.00900196 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Ala2391Thr A2391T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2401Thr A2401T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2409Thr A2409T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2423Thr A2423T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2427Thr A2427T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2450Thr A2450T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2560Thr A2560T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10686 0.00467902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KANK1 Pro508Leu P508L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KANK1 Pro666Leu P666L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - C9ORF68 His249Asp H249D not reviewed Insufficiently evaluated not reviewed unknown Array rs41302077 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF68 His136Arg H136R not reviewed Insufficiently evaluated not reviewed unknown Array rs45463394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA2026 Leu1704Phe L1704F not reviewed Insufficiently evaluated not reviewed unknown Array rs17579502 197 9794 0.0201144 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FREM1 Pro897His P897H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 5 Y 2 N - - C9ORF82 Glu170Lys E170K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT74 Thr110Ala T110A not reviewed Insufficiently evaluated not reviewed unknown Array rs12004404 357 9250 0.0385946 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCAF12 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11557154 989 10758 0.0919316 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - C9ORF144B Arg1101His R1101H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1539 Val4Glu V4E not reviewed Insufficiently evaluated not reviewed unknown Array 16 9582 0.0016698 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 1 N - - FAM75D4 Asp791Glu D791E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM75D4 Gly882Arg G882R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GADD45G Met19Ile M19I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - NOL8 Ser406Pro S406P not reviewed Insufficiently evaluated not reviewed unknown Array 79 9420 0.00838641 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - FAM22F Arg176Gly R176G not reviewed Insufficiently evaluated not reviewed unknown Array rs2479282 342 4266 0.0801688 26 0 51 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SVEP1 Met456Ile M456I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10000 0.0002 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.306 - - -1 - 1 N - - SVEP1 Thr169Ile T169I not reviewed Insufficiently evaluated not reviewed unknown Array 4 8428 0.000474608 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - COL27A1 Met996Ile M996I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKNA Thr688Met T688M not reviewed Insufficiently evaluated not reviewed unknown Array rs45550039 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.115 - - 2 - 0 N - - CEP110 Lys1188Gln K1188Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - STRBP Val581Ile V581I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF117 Val191Leu V191L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENG Ser615Leu S615L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10742 0.00148948 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y 6 Y 2 N - - NUP214 Met572Val M572V not reviewed Insufficiently evaluated not reviewed unknown Array rs61751470 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETX Lys472Asn K472N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MAMDC4 Val575Ile V575I not reviewed Insufficiently evaluated not reviewed unknown Array 412 10730 0.038397 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF169 Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array 17 3232 0.0052599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM166A Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 183 10756 0.0170138 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - AKAP17A Pro500Ala P500A not reviewed Insufficiently evaluated not reviewed unknown Array rs28661622 5553 10680 0.519944 23 0 31 0 0 - - - - - - - - - - - - - - - - 0.212 - - 2 - 0 N - - CD99 Met150Val M150V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD99 Met166Val M166V not reviewed Insufficiently evaluated not reviewed unknown Array rs11556080 603 10750 0.056093 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.194 - - 0 - 0 N - - CD99 Asn157Ile N157I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD99 Asn173Ile N173I not reviewed Insufficiently evaluated not reviewed unknown Array rs4717 532 10750 0.0494884 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - WWC3 Thr445Met T445M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ZNF630 Ser57Asn S57N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF630 Ser71Asn S71N not reviewed Insufficiently evaluated not reviewed unknown Array rs41297342 181 6133 0.0295125 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.318 - - 0 - 1 N - - CCDC120 Leu369Met L369M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC120 Leu381Met L381M not reviewed Insufficiently evaluated not reviewed unknown Array rs55654138 244 8434 0.0289305 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ALAS2 Arg522His R522H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - ALAS2 Arg546His R546H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - ALAS2 Arg559His R559H not reviewed Insufficiently evaluated not reviewed unknown Array 18 8761 0.00205456 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 1 - 0 N - - RBMXL3 Arg730Gln R730Q not reviewed Insufficiently evaluated not reviewed unknown Array 155 2482 0.0624496 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RHOXF2 Asn93Asp N93D not reviewed Insufficiently evaluated not reviewed unknown Array rs40786 18 72 0.25 13 0 24 0 0 - - - - - - - - - - - - - - - - 0.489 - - -1 - 0 N - - RHOXF2B Asn93Asp N93D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UTP14A Asn701His N701H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTP14A Asn753His N753H not reviewed Insufficiently evaluated not reviewed unknown Array 24 8761 0.00273941 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - NAP1L4 Ser7Stop S7X not reviewed Insufficiently evaluated not reviewed unknown Array 7 9522 0.000735139 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FOLR3 Gln199Stop Q199X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMG1 Trp189Stop W189X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PZP Gln598Stop Q598X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - APLP2 Arg119Stop R119X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Arg26196Stop R26196X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg26321Stop R26321X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg26388Stop R26388X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Arg32693Stop R32693X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - TTN Glu25213Stop E25213X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Glu25338Stop E25338X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Glu25405Stop E25405X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TTN Glu31710Stop E31710X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - DSN1 Gln58Stop Q58X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DSN1 Gln74Stop Q74X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MCF2L2 Arg120Stop R120X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDSS2 Arg349Stop R349X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - CHD5 Met1576Ile M1576I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLSTN1 Ala540Ser A540S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - CLSTN1 Ala550Ser A550S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CLCN6 Val470Phe V470F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 3 - 0 N - - ARHGEF19 Pro460Leu P460L not reviewed Insufficiently evaluated not reviewed unknown Array rs41269185 966 10752 0.0898438 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - SPATA21 Pro119Leu P119L not reviewed Insufficiently evaluated not reviewed unknown Array rs41269197 517 10758 0.0480573 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - CROCC Gln302Glu Q302E not reviewed Insufficiently evaluated not reviewed unknown Array 342 10758 0.0317903 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - CROCC Arg675His R675H not reviewed Insufficiently evaluated not reviewed unknown Array 364 10722 0.0339489 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CROCC Arg691His R691H not reviewed Insufficiently evaluated not reviewed unknown Array 353 10704 0.0329783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.873 - - 1 - 2 N - - CROCC Arg903Ser R903S not reviewed Insufficiently evaluated not reviewed unknown Array 316 10200 0.0309804 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ATP13A2 Trp1140Arg W1140R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PADI4 Arg650Ser R650S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - NBPF3 Asp190His D190H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - PTPRU Arg471Leu R471L not reviewed Insufficiently evaluated not reviewed unknown Array rs35745442 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPOCD1 Thr291Ile T291I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741268 185 10730 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 3 - 0 N - - ADC Lys229Arg K229R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GNL2 Arg455Trp R455W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MACF1 Thr4061Ala T4061A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Thr4563Ala T4563A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF643 Pro143Ala P143A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLDN19 Gly172Ser G172S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CLDN19 Arg200Gln R200Q not reviewed Insufficiently evaluated not reviewed unknown Array 124 10704 0.0115845 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 0 - 1 N - - WDR65 Ile863Thr I863T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0467 Thr1827Ser T1827S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - ZFYVE9 Pro67Ser P67S not reviewed Insufficiently evaluated not reviewed unknown Array rs41313248 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.773 - - 3 - 1 N - - SLC1A7 Arg483Gln R483Q not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLIS1 Pro58Ser P58S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741984 6 10730 0.000559179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACOT11 Arg11Trp R11W not reviewed Insufficiently evaluated not reviewed unknown Array rs34630746 430 10740 0.0400372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - 7 Y 1 N - - FAM151A Ile90Val I90V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FGGY Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array rs62623594 461 10758 0.0428518 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.485 - - 2 - 1 N - - ALG6 Tyr131His Y131H not reviewed Insufficiently evaluated not reviewed unknown Array rs35383149 298 10758 0.0277003 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y -1 - 2 N - - CACHD1 Arg162Pro R162P not reviewed Insufficiently evaluated not reviewed unknown Array 7 9668 0.000724038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - IFI44L Ala104Thr A104T not reviewed Insufficiently evaluated not reviewed unknown Array 244 10750 0.0226977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBMXL1 Ser161Pro S161P not reviewed Insufficiently evaluated not reviewed unknown Array 9 80 0.1125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RBMXL1 Gly158Val G158V not reviewed Insufficiently evaluated not reviewed unknown Array 12 76 0.157895 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EXTL2 Asp172Asn D172N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10738 0.000279381 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.775 - - -1 - 1 N - - ATP1A1 Ile549Val I549V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP1A1 Ile580Val I580V not reviewed Insufficiently evaluated not reviewed unknown Array 238 10758 0.0221231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IGSF3 Arg443His R443H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - IGSF3 Arg463His R463H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHGDH Ala520Glu A520E not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.021 Y - 3 - 1 N - - MRPL9 Met260Val M260V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP210L Val1196Ile V1196I not reviewed Insufficiently evaluated not reviewed unknown Array 45 9694 0.00464205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - FLAD1 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLAD1 Asn69Ser N69S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLAD1 Asn71Ser N71S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCAN Thr655Ala T655A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HDGF Thr12Met T12M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCRLB Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array rs35002732 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - C1ORF114 Arg338Gln R338Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SELL Asn382Asp N382D not reviewed Insufficiently evaluated not reviewed unknown Array rs4987382 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF156 Arg318His R318H not reviewed Insufficiently evaluated not reviewed unknown Array rs35984232 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF156 Phe309Leu F309L not reviewed Insufficiently evaluated not reviewed unknown Array rs34396097 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT2L2 Asn343Lys N343K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - METTL13 Arg210Gln R210Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - METTL13 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733149 7 10524 0.000665146 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.223 - - 0 - 1 N - - HMCN1 Glu722Lys E722K not reviewed Insufficiently evaluated not reviewed unknown Array rs34692227 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.137 Y - 0 - 1 N - - HMCN1 Leu1961Phe L1961F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.989 Y - 0 - 3 N - - HMCN1 Thr2500Ile T2500I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.971 Y - 3 - 3 N - - ASPM Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CACNA1S Gly258Asp G258D not reviewed Insufficiently evaluated not reviewed unknown Array rs35534614 89 10756 0.00827445 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PIK3C2B Arg315Trp R315W not reviewed Insufficiently evaluated not reviewed unknown Array rs45492196 393 10758 0.036531 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PM20D1 Val419Ile V419I not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - USH2A Asp644Val D644V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805048 640 10758 0.0594906 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.137 Y Y 8 Y 2 N - - DNAH14 Ala931Asp A931D not reviewed Insufficiently evaluated not reviewed unknown Array 106 3234 0.0327767 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF55 His276Arg H276R not reviewed Insufficiently evaluated not reviewed unknown Array rs41268719 86 9998 0.00860172 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS38 Val7Ile V7I not reviewed Insufficiently evaluated not reviewed unknown Array 240 10756 0.0223131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRSS38 Met204Val M204V not reviewed Insufficiently evaluated not reviewed unknown Array rs9426581 8995 10756 0.836277 43 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OBSCN His1158Leu H1158L not reviewed Insufficiently evaluated not reviewed unknown Array rs41305731 296 10012 0.0295645 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PCNXL2 Arg1050His R1050H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10308 0.000873108 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KCNK1 Leu126Ser L126S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - WDR64 Arg647Gln R647Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - WDR64 Arg952Trp R952W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR2B11 Val165Ile V165I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR13G1 Val189Leu V189L not reviewed Insufficiently evaluated not reviewed unknown Array rs56096718 387 10758 0.0359732 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.712 - - 0 - 1 N - - SFMBT2 Pro498Leu P498L not reviewed Insufficiently evaluated not reviewed unknown Array rs41306403 208 10758 0.0193344 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - C10ORF47 Ala412Val A412V not reviewed Insufficiently evaluated not reviewed unknown Array rs12253554 249 4536 0.0548942 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC39A12 Arg35Thr R35T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ANKRD26 Val855Ile V855I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF68 Thr333Ala T333A not reviewed Insufficiently evaluated not reviewed unknown Array rs35739764 82 10748 0.00762933 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF33A Pro268Leu P268L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF33A Pro269Leu P269L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF37A Gly351Glu G351E not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.35 - - 6 Y 1 N - - SYT15 Arg261Gln R261Q not reviewed Insufficiently evaluated not reviewed unknown Array 150 10482 0.0143102 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - CHAT Leu125Phe L125F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CHAT Leu161Phe L161F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CHAT Leu243Phe L243F not reviewed Insufficiently evaluated not reviewed unknown Array rs8178990 489 10758 0.0454545 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.202 Y Y 0 - 3 N - - AIFM2 Gly2Val G2V not reviewed Insufficiently evaluated not reviewed unknown Array rs41277978 62 10750 0.00576744 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - NDST2 Met375Val M375V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 0 - 2 N - - DLG5 Pro1481Gln P1481Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2289310 415 10758 0.0385759 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRG3 Thr20Arg T20R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC6 Ser618Phe S618F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EXOC6 Ser623Phe S623F not reviewed Insufficiently evaluated not reviewed unknown Array rs62642545 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYOF Ala1851Val A1851V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOF Ala1864Val A1864V not reviewed Insufficiently evaluated not reviewed unknown Array 26 9696 0.00268152 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - MYOF Thr501Arg T501R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYOF Thr514Arg T514R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9580 0.000104384 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - CYP2C8 Met136Leu M136L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.485 - - -3 - 1 N - - C10ORF131 Ser91Thr S91T not reviewed Insufficiently evaluated not reviewed unknown Array 36 3234 0.0111317 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CWF19L1 Arg523His R523H not reviewed Insufficiently evaluated not reviewed unknown Array rs35490714 229 10758 0.0212865 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - SH3PXD2A Ser235Phe S235F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - RAB11FIP2 Thr317Ala T317A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - FAM45A His218Tyr H218Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DMBT1 Asp550Glu D550E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DMBT1 Asp560Glu D560E not reviewed Insufficiently evaluated not reviewed unknown Array 127 10058 0.0126268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF90 Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10706 0.00177471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM8 Arg150Trp R150W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM8 Arg189Trp R189W not reviewed Insufficiently evaluated not reviewed unknown Array rs45451297 316 10532 0.0300038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF35 Cys345Ser C345S not reviewed Insufficiently evaluated not reviewed unknown Array 332 10576 0.0313918 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF35 Gly207Arg G207R not reviewed Insufficiently evaluated not reviewed unknown Array 70 10756 0.006508 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF35 Met193Ile M193I not reviewed Insufficiently evaluated not reviewed unknown Array 389 10758 0.0361591 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC5B Thr1360Met T1360M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Gly1805Ser G1805S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Thr4712Met T4712M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Ala4867Thr A4867T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr4882Ala T4882A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Pro4895Ser P4895S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ART5 Arg266Met R266M not reviewed Insufficiently evaluated not reviewed unknown Array 65 10602 0.00613092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NUP98 Glu1159Lys E1159K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR56A5 Ala148Val A148V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIC3 Pro101Ser P101S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - STK33 Ala458Glu A458E not reviewed Insufficiently evaluated not reviewed unknown Array rs35296353 143 10758 0.0132924 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - SBF2 Arg1686Ser R1686S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - LYVE1 Gln50Glu Q50E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - IGSF22 Leu677Phe L677F not reviewed Insufficiently evaluated not reviewed unknown Array 343 10718 0.0320022 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - ZDHHC13 Arg331Trp R331W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZDHHC13 Arg461Trp R461W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ZNF408 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CKAP5 Gly92Val G92V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRP4 His596Arg H596R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACP2 Phe393Leu F393L not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - NUP160 Val137Ile V137I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4A5 Thr285Ala T285A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - OR4C16 Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR5D18 Thr161Met T161M not reviewed Insufficiently evaluated not reviewed unknown Array rs62001009 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 2 - 0 N - - OR5AP2 Asp302Glu D302E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747872 387 10758 0.0359732 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.302 - - -2 - 1 N - - SLC43A3 Arg203His R203H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SMTNL1 Arg342Trp R342W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAALADL1 Leu611Val L611V not reviewed Insufficiently evaluated not reviewed unknown Array rs36053340 401 10758 0.0372746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.814 - - 0 - 1 N - - LTBP3 Ala321Val A321V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACTN3 Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34515982 19 10748 0.00176777 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTL5 Ala280Gly A280G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - C2CD3 Pro551Leu P551L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745380 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MYO7A Ala1665Val A1665V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MYO7A Ala1703Val A1703V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - SLC36A4 His330Arg H330R not reviewed Insufficiently evaluated not reviewed unknown Array 599 10758 0.0556795 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ARHGAP42 Ala380Thr A380T not reviewed Insufficiently evaluated not reviewed unknown Array rs17647207 223 3234 0.0689549 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZC3H12C Asp157Asn D157N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9634 0.000103799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - -1 - 2 N - - OR8B3 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array 18 88 0.204545 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLB1L2 Ser285Leu S285L not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.17 - - 6 Y 0 N - - CACNA1C Pro814Ser P814S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CACNA1C Pro817Ser P817S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10138 0.00335372 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.05 Y Y 3 - 2 N - - KCNA5 Ala251Thr A251T not reviewed Insufficiently evaluated not reviewed unknown Array rs12720442 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - A2ML1 Met1116Val M1116V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9924 0.000806126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.607 - - 0 - 1 N - - KLRF2 Arg15Cys R15C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC15A5 Leu574Phe L574F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RECQL Asp495His D495H not reviewed Insufficiently evaluated not reviewed unknown Array rs6499 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKP2 Arg651Cys R651C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PKP2 Arg695Cys R695C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SLC2A13 Thr402Ile T402I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLL2 Pro4920Ala P4920A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCKAP5L Ser681Pro S681P not reviewed Insufficiently evaluated not reviewed unknown Array 814 9328 0.0872642 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM186A Arg559Cys R559C not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BIN2 Ser395Gly S395G not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 2 - 1 N - - KIAA0748 Arg19His R19H not reviewed Insufficiently evaluated not reviewed unknown Array rs62623446 474 9782 0.0484563 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - TIMELESS Ala129Ser A129S not reviewed Insufficiently evaluated not reviewed unknown Array rs72478986 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - PTPRB Gly1934Ala G1934A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRB Gly2152Ala G2152A not reviewed Insufficiently evaluated not reviewed unknown Array rs17226367 452 9878 0.0457583 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPO Ala287Pro A287P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HCFC2 Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF45 Val175Ile V175I not reviewed Insufficiently evaluated not reviewed unknown Array 3 9562 0.000313741 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POLR3B Arg1047His R1047H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR3B Arg1105His R1105H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PWP1 Met286Thr M286T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.516 - - 2 - 1 N - - C12ORF52 Thr220Lys T220K not reviewed Insufficiently evaluated not reviewed unknown Array rs34831139 471 10758 0.0437814 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHOF Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array rs34719836 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - GPR109A Met317Ile M317I not reviewed Insufficiently evaluated not reviewed unknown Array rs2454727 126 10758 0.0117122 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - NCOR2 Val1551Met V1551M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOR2 Val1567Met V1567M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229841 5 7848 0.000637104 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GALNT9 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNT9 Ala400Thr A400T not reviewed Insufficiently evaluated not reviewed unknown Array rs11246991 1097 10652 0.102985 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - TNFRSF19 Pro262Ser P262S not reviewed Insufficiently evaluated not reviewed unknown Array rs35041805 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATA13 Gly580Ser G580S not reviewed Insufficiently evaluated not reviewed unknown Array 176 3234 0.0544218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATP12A Pro863Leu P863L not reviewed Insufficiently evaluated not reviewed unknown Array rs2289909 202 10758 0.0187767 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP12A Pro869Leu P869L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTUS2 Arg468Gln R468Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 9880 0.000404858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STARD13 Ala330Val A330V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STARD13 Ala440Val A440V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STARD13 Ala448Val A448V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NHLRC3 Leu154Arg L154R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NHLRC3 Leu221Arg L221R not reviewed Insufficiently evaluated not reviewed unknown Array rs9603498 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - KLF12 Ser118Leu S118L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - MYCBP2 Asn2076Ser N2076S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGGT2 Ala821Thr A821T not reviewed Insufficiently evaluated not reviewed unknown Array rs33949518 1615 10750 0.150233 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - UGGT2 Ala323Thr A323T not reviewed Insufficiently evaluated not reviewed unknown Array rs12863903 1281 10748 0.119185 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FARP1 Ser487Leu S487L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - DOCK9 Thr2032Met T2032M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK9 Thr2033Met T2033M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK9 Thr1868Met T1868M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK9 Thr1869Met T1869M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - DOCK9 Ala434Val A434V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK9 Ala435Val A435V not reviewed Insufficiently evaluated not reviewed unknown Array rs62620184 351 10480 0.0334924 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TEP1 Lys1955Arg K1955R not reviewed Insufficiently evaluated not reviewed unknown Array rs34895824 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TEP1 His239Arg H239R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734876 254 10758 0.0236103 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KLHL33 Glu345Gly E345G not reviewed Insufficiently evaluated not reviewed unknown Array rs1953225 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR6S1 Leu116Met L116M not reviewed Insufficiently evaluated not reviewed unknown Array rs72659934 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OXA1L Ile292Leu I292L not reviewed Insufficiently evaluated not reviewed unknown Array rs35143092 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HAUS4 Ala158Thr A158T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HAUS4 Ala203Thr A203T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP4S1 Tyr52His Y52H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NIN Arg470Trp R470W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SYNE2 Pro5531Thr P5531T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 4 Y 1 N - - VSX2 Asp291Asn D291N not reviewed Insufficiently evaluated not reviewed unknown Array 97 10720 0.00904851 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -1 - 2 N - - LTBP2 Glu890Lys E890K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSHR Pro52Thr P52T not reviewed Insufficiently evaluated not reviewed unknown Array rs2234919 496 10758 0.0461052 6 0 7 2 2 1 Y - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - Two individuals homozygous for TSHR-P52T have normal thyroid function. This allele is likely benign. TSHR Val721Phe V721F not reviewed Insufficiently evaluated not reviewed unknown Array rs61745409 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - STON2 Ser167Leu S167L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - EML5 Thr194Met T194M not reviewed Insufficiently evaluated not reviewed unknown Array 93 9686 0.00960149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC88C Gly1983Ala G1983A not reviewed Insufficiently evaluated not reviewed unknown Array rs45542736 104 9660 0.010766 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - CCDC88C Glu1334Asp E1334D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10330 9.6805e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - SERPINA6 Cys8Phe C8F not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TECPR2 Ser777Asn S777N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - INF2 Arg877Gln R877Q not reviewed Insufficiently evaluated not reviewed unknown Array 89 10104 0.00880839 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK2 Leu3217Pro L3217P not reviewed Insufficiently evaluated not reviewed unknown Array 1230 9558 0.128688 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.04 - - 7 Y 0 N - - AHNAK2 Thr2148Ala T2148A not reviewed Insufficiently evaluated not reviewed unknown Array 887 8842 0.100317 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - ATP10A Leu561Phe L561F not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 0 - 1 N - - ATP10A Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array rs78266472 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.234 - - 6 Y 1 N - - RYR3 Thr924Ala T924A not reviewed Insufficiently evaluated not reviewed unknown Array 2 9554 0.000209336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 1 - 0 N - - ZFYVE19 Pro190Leu P190L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10588 0.00132225 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SPTBN5 Gln1777Glu Q1777E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - PLA2G4F Arg744His R744H not reviewed Insufficiently evaluated not reviewed unknown Array rs28674123 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - DUOX1 Tyr472Asp Y472D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SPPL2A Asn126Asp N126D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DMXL2 Val153Phe V153F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - UNC13C Asp304Glu D304E not reviewed Insufficiently evaluated not reviewed unknown Array 58 9858 0.00588355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - AQP9 Arg219Gln R219Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LACTB Lys255Gln K255Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34536322 356 10752 0.0331101 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - PLEKHO2 Pro240Ser P240S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHO2 Met296Ile M296I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DENND4A Thr1574Ile T1574I not reviewed Insufficiently evaluated not reviewed unknown Array 13 9514 0.00136641 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - DENND4A Thr1617Ile T1617I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGA11 Ala384Ser A384S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - CD276 Gly290Arg G290R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD276 Gly508Arg G508R not reviewed Insufficiently evaluated not reviewed unknown Array rs3825859 454 10758 0.0422012 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.453 - - 6 Y 1 N - - CSPG4 Arg1842Gln R1842Q not reviewed Insufficiently evaluated not reviewed unknown Array rs77237106 1171 10292 0.113778 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 0 N - - KIAA1024 Pro707Gln P707Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 4 Y 1 N - - CPEB1 Ser122Arg S122R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10080 9.9206e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - CPEB1 Ser47Arg S47R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - AP3B2 Arg645Gln R645Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPK3 His65Arg H65R not reviewed Insufficiently evaluated not reviewed unknown Array rs28431354 352 10742 0.0327686 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NTRK3 Arg645Cys R645C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - RGMA Ala415Val A415V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGMA Ala439Val A439V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM8A Thr136Ala T136A not reviewed Insufficiently evaluated not reviewed unknown Array rs11248931 6290 10722 0.586644 41 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC78 Leu43Met L43M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.85 - - -3 - 2 N - - TELO2 Ser553Asn S553N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - HAGH Val115Ile V115I not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HAGH Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKD1 Asp1332Asn D1332N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.463 Y Y -1 - 3 N - - DCI Leu82Val L82V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - SRRM2 Pro334Leu P334L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SRRM2 Arg1576Lys R1576K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF597 Leu199Val L199V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - BFAR Ala136Gly A136G not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP17 Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array 82 10752 0.00762649 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - AQP8 Arg261Gln R261Q not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - 0 - 1 N - - ATP2A1 Val726Gly V726G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MVP Arg623Trp R623W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF785 Val193Gly V193G not reviewed Insufficiently evaluated not reviewed unknown Array rs35215913 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF785 Glu119Lys E119K not reviewed Insufficiently evaluated not reviewed unknown Array rs35974081 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRCAP Pro1535Ala P1535A not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - ZNF646 Thr566Ala T566A not reviewed Insufficiently evaluated not reviewed unknown Array rs35041466 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF646 Arg1771Cys R1771C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10046 9.9542e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADCY7 Ala480Val A480V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731915 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 2 - 1 N - - CHD9 Thr2331Ala T2331A not reviewed Insufficiently evaluated not reviewed unknown Array rs61747411 310 9976 0.0310746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CES5A Arg100Gln R100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2397965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CES5A Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2397965 2614 10758 0.242982 32 0 44 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 1 N - - CES3 Gly231Ser G231S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - EXOC3L Pro44Leu P44L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10722 0.00233165 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AGRP Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - HYDIN Met32Thr M32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYDIN Met42Thr M42T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L2 Gly1251Arg G1251R not reviewed Insufficiently evaluated not reviewed unknown Array rs734824 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDH13 Ala376Thr A376T not reviewed Insufficiently evaluated not reviewed unknown Array rs35549391 50 9906 0.00504745 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TAF1C Asp275Asn D275N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAF1C Asp368Asn D368N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.312 - - -1 - 1 N - - CRISPLD2 Arg364Lys R364K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - CA5A Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTU2 Gly482Arg G482R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD11 Thr680Ser T680S not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - RAP1GAP2 Pro51Ser P51S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ZZEF1 Arg2434Gln R2434Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHRNE Val468Leu V468L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10742 0.00465463 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - MYH13 Ala1398Val A1398V not reviewed Insufficiently evaluated not reviewed unknown Array 131 10496 0.0124809 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - MYH4 Arg1504Gln R1504Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - MYH4 Gln329Arg Q329R not reviewed Insufficiently evaluated not reviewed unknown Array rs35984286 344 10758 0.0319762 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDRT1 Thr411Met T411M not reviewed Insufficiently evaluated not reviewed unknown Array rs62070401 2116 10758 0.196691 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RNF112 Leu594Pro L594P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNJ18 Gln192His Q192H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNFAIP1 His49Tyr H49Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.337 - - -1 - 1 N - - SRCIN1 Ser875Asn S875N not reviewed Insufficiently evaluated not reviewed unknown Array 258 9778 0.0263858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STARD3 Cys149Tyr C149Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERBB2 Ala1186Asp A1186D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - ERBB2 Ala1216Asp A1216D not reviewed Insufficiently evaluated not reviewed unknown Array rs55943169 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - KRT37 Pro434Ser P434S not reviewed Insufficiently evaluated not reviewed unknown Array rs17737019 507 10758 0.0471277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - GHDC Leu172Ser L172S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GHDC Leu211Ser L211S not reviewed Insufficiently evaluated not reviewed unknown Array 84 10752 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - HSF5 Thr552Ala T552A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MED13 Ala1432Pro A1432P not reviewed Insufficiently evaluated not reviewed unknown Array 3 9694 0.000309469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF60 Pro124Leu P124L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF157 Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array rs61751845 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGAT5B Gln126Glu Q126E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - MGAT5B Gln137Glu Q137E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - SEPT9 Arg104Trp R104W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SEPT9 Arg191Trp R191W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SEPT9 Arg243Trp R243W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SEPT9 Arg337Trp R337W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SEPT9 Arg348Trp R348W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SEPT9 Arg355Trp R355W benign Low clinical importance, Uncertain benign unknown Array 6 10414 0.000576147 1 0 1 0 0 ! Y - - 1 Y - - - - - - Y - - - 1.0 Y Y 7 Y 4 N 0 0 Rare, tentatively classified as benign. Other missense variants in this gene are reported to cause familial neuralgic amyotrophy in a dominant manner, but this was seen in a PGP participant who has not reported a family history of the disease. DNAH17 Asp1522Tyr D1522Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF213 Arg1744Gln R1744Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Ala4448Thr A4448T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF70 Arg412Gly R412G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10630 0.00159925 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DCXR Ala216Thr A216T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBCD Ala729Pro A729P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 2 - 1 N - - TMEM200C Ser498Gly S498G not reviewed Insufficiently evaluated not reviewed unknown Array rs7506026 342 7172 0.0476854 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAPG Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array 3 9574 0.000313348 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.323 - - 1 - 1 N - - SMAD7 Ser28Phe S28F not reviewed Insufficiently evaluated not reviewed unknown Array rs3764482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STARD6 Arg212His R212H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - SERPINBP1 Thr169Ile T169I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPAP2C Gly39Arg G39R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPAP2C Gly60Arg G60R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ELANE Pro257Leu P257L not reviewed Insufficiently evaluated not reviewed unknown Array rs17216663 84 10756 0.00780959 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.031 Y Y 7 Y 2 N - - ZNF57 Ser56Ala S56A not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - TBXA2R Leu351Pro L351P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APBA3 Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array 69 10750 0.0064186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - PLIN4 Val822Leu V822L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Ala668Ser A668S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10268 9.7389e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STXBP2 Arg187Cys R187C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - STXBP2 Arg190Cys R190C pathogenic High clinical importance, Uncertain pathogenic recessive Array 3 10092 0.000297265 1 0 1 0 0 1 Y - - 0 Y - - 5 Y 5 Y Y - - - 1.0 Y Y 8 Y 4 N 2 0 Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause familial hemophagocytic lymphohistiocytosis (a severe disorder that manifests in childhood). MUC16 Thr11937Ile T11937I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744216 258 9852 0.0261876 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr9618Lys T9618K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10098 0.000297088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL5A3 Asp417Asn D417N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPAN-P2RY11 Pro520Leu P520L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZGLP1 Val263Gly V263G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10272 0.00097352 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 8 Y 1 N - - LDLR Val649Ile V649I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - LDLR Val659Ile V659I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - LDLR Val706Ile V706I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - LDLR Val786Ile V786I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - C19ORF39 Asp96Asn D96N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF44 Thr220Ile T220I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF44 Thr268Ile T268I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - ZNF44 Arg34Pro R34P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF44 Arg82Pro R82P not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.083 - - 5 Y 0 N - - CACNA1A Pro2090Gln P2090Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CACNA1A Pro2093Gln P2093Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - NOTCH3 His1235Leu H1235L not reviewed Insufficiently evaluated not reviewed unknown Array rs55882518 56 10754 0.00520736 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y 6 Y 2 N - - HAUS8 Val248Met V248M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAUS8 Val249Met V249M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.55 - - 0 - 1 N - - MRPL34 Ala74Val A74V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10520 0.00218631 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - GDF1 Met364Thr M364T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - ZNF93 Val435Ile V435I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - -4 - 0 N - - ZNF90 Ile501Val I501V not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF536 Pro412His P412H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744158 461 10758 0.0428518 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.249 - - 5 Y 1 N - - SBSN His139Tyr H139Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF780A Lys392Arg K392R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.861 - - -3 - 2 N - - ZNF780A Lys393Arg K393R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C19ORF47 Arg92His R92H not reviewed Insufficiently evaluated not reviewed unknown Array rs9973304 88 10758 0.00817996 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF47 Ser59Thr S59T not reviewed Insufficiently evaluated not reviewed unknown Array 118 10752 0.0109747 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ITPKC Arg439His R439H not reviewed Insufficiently evaluated not reviewed unknown Array 444 10758 0.0412716 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MEGF8 His1829Tyr H1829Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEKHA4 Pro475Ala P475A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHA4 Pro500Ala P500A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.529 - - 2 - 1 N - - MED25 Ala341Ser A341S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - -1 - 1 N - - KLK11 Arg159Cys R159C not reviewed Insufficiently evaluated not reviewed unknown Array rs1048328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.398 - - 8 Y 1 N - - SIGLEC12 Pro432Leu P432L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIGLEC12 Pro550Leu P550L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - LILRA5 Gln149Arg Q149R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRA5 Gln161Arg Q161R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - PPP1R12C Ser143Thr S143T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - -2 - 1 N - - PTPRH Glu128Gln E128Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRH Glu306Gln E306Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - ISOC2 Asp120Glu D120E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ISOC2 Asp190Glu D190E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - ISOC2 Asp206Glu D206E not reviewed Insufficiently evaluated not reviewed unknown Array rs34698453 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP9 Ala50Asp A50D not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - ZNF749 Val557Ala V557A not reviewed Insufficiently evaluated not reviewed unknown Array rs2240040 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3YL1 Lys76Asn K76N not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PUM2 Cys855Arg C855R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KLHL29 Ser761Leu S761L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OTOF Arg26Cys R26C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - OTOF Arg773Cys R773C benign Low clinical importance, Uncertain benign unknown Array 172 10640 0.0161654 3 0 3 1 1 ! Y - - 3 Y - - - - - - Y - - - 0.928 Y Y 8 Y 4 N 0 0 Presumed benign. Seen in 2.4% of randomly chosen chromosomes, contradicting a severe pathogenic hypothesis. OTOF Arg83Cys R83C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - OTOF Ile23Ser I23S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - DPYSL5 Ala512Thr A512T not reviewed Insufficiently evaluated not reviewed unknown Array rs41288789 404 10758 0.0375534 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BIRC6 Thr894Met T894M not reviewed Insufficiently evaluated not reviewed unknown Array rs34996177 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RASGRP3 Thr392Ala T392A not reviewed Insufficiently evaluated not reviewed unknown Array 332 9568 0.034699 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASGRP3 Thr393Ala T393A not reviewed Insufficiently evaluated not reviewed unknown Array rs13388394 8 128 0.0625 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 0 N - - C2ORF86 Asp546Tyr D546Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF86 Asp705Tyr D705Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 9436 0.000211954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLEC4F Thr407Ile T407I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740120 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.491 - - 3 - 1 N - - DYSF Gly128Glu G128E not reviewed Insufficiently evaluated not reviewed unknown Array rs34997054 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.481 Y Y 6 Y 3 N - - DYSF Gly129Glu G129E not reviewed Insufficiently evaluated not reviewed unknown Array 31 9654 0.0032111 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NAT8 Met121Thr M121T not reviewed Insufficiently evaluated not reviewed unknown Array rs62000430 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - DNAH6 Tyr2119Cys Y2119C not reviewed Insufficiently evaluated not reviewed unknown Array 69 3230 0.0213622 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - C2ORF89 Pro381Leu P381L not reviewed Insufficiently evaluated not reviewed unknown Array rs1649292 1807 10756 0.167999 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C2ORF89 Arg296His R296H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744273 200 10192 0.0196232 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGOLN2 Gly141Asp G141D not reviewed Insufficiently evaluated not reviewed unknown Array 90 9936 0.00905797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.792 - - 4 Y 1 N - - ATOH8 Ser247Asn S247N not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MAL Thr20Ile T20I not reviewed Insufficiently evaluated not reviewed unknown Array 73 10658 0.00684932 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - MRPS5 Arg284Gln R284Q not reviewed Insufficiently evaluated not reviewed unknown Array 262 10746 0.0243812 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - CCDC93 Gln415Arg Q415R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - EPB41L5 Pro467His P467H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CNTNAP5 Ser452Leu S452L not reviewed Insufficiently evaluated not reviewed unknown Array rs17727261 389 10332 0.03765 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - SPOPL Ser236Asn S236N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPD2 Met136Ile M136I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 1 N - - ERMN Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERMN Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 246 9816 0.0250611 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAP Glu495Lys E495K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCN9A Asn1245Ser N1245S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10708 0.00532312 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - XIRP2 Arg771Trp R771W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCB11 Arg698His R698H benign Low clinical importance, Uncertain benign unknown Array 54 9960 0.00542169 1 0 1 4 2 ! Y - - 1 Y - - - - - - Y - - - 0.99 Y Y 1 - 4 N 0 0 Rare, classified as nonpathogenic in most reports (although Polyphen 2 predicts damaging effect). Other recessive variants in this gene cause intrahepatic cholestasis in a recessive manner. LRP2 Val1948Met V1948M not reviewed Insufficiently evaluated not reviewed unknown Array rs41268689 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 0 - 1 N - - ITGA6 Asp910Asn D910N not reviewed Insufficiently evaluated not reviewed unknown Array rs61737182 53 10750 0.00493023 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr26691His Y26691H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr26816His Y26816H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr26883His Y26883H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Tyr33188His Y33188H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Pro26129Leu P26129L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro26254Leu P26254L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro26321Leu P26321L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Pro32626Leu P32626L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Val17289Glu V17289E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Val17414Glu V17414E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Val17481Glu V17481E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Val23786Glu V23786E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Val16383Met V16383M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val16508Met V16508M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val16575Met V16575M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val22880Met V22880M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys15900Thr K15900T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Lys16025Thr K16025T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Lys16092Thr K16092T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Lys22397Thr K22397T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Trp13754Cys W13754C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp13879Cys W13879C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp13946Cys W13946C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Trp20251Cys W20251C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu12803Pro L12803P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu12928Pro L12928P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu12995Pro L12995P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu19300Pro L19300P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Arg13340His R13340H not reviewed Insufficiently evaluated not reviewed unknown Array rs72677237 61 9608 0.00634887 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg6843His R6843H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg6968His R6968H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg7035His R7035H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Lys4646Glu K4646E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CCDC141 Glu1263Lys E1263K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSIP2 Gln5886Arg Q5886R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DIRC1 Ser51Ala S51A not reviewed Insufficiently evaluated not reviewed unknown Array rs72902678 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HECW2 Pro616Ser P616S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PGAP1 Lys723Glu K723E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - BMPR2 Ser775Asn S775N not reviewed Insufficiently evaluated not reviewed unknown Array rs2228545 273 10758 0.0253765 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MDH1B Val320Phe V320F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - SPAG16 Asp56Asn D56N not reviewed Insufficiently evaluated not reviewed unknown Array rs61752198 156 10740 0.0145251 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.665 - - -1 - 1 N - - SPAG16 Ser356Asn S356N not reviewed Insufficiently evaluated not reviewed unknown Array rs61752199 157 10746 0.0146101 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - ALPP Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - 1 - 0 N - - RBM44 Ser312Cys S312C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGXT Glu371Lys E371K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10704 0.000186846 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.039 Y Y 0 - 2 N - - STK35 Arg69Gly R69G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - VPS16 Trp584Arg W584R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VPS16 Trp728Arg W728R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729229 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SLC4A11 Arg50Gly R50G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF185 Leu194His L194H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCAS4 Ser155Tyr S155Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - SALL4 Pro740Ala P740A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - ZBP1 Asp288Val D288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZBP1 Asp362Val D362V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZBP1 Asp363Val D363V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 1 N - - TUBB1 Leu130Val L130V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - POTED Val528Met V528M not reviewed Insufficiently evaluated not reviewed unknown Array rs2334581 81 6484 0.0124923 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTED Gln530Arg Q530R not reviewed Insufficiently evaluated not reviewed unknown Array rs2334582 7 6556 0.00106772 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - POTED Met535Lys M535K not reviewed Insufficiently evaluated not reviewed unknown Array rs2334583 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP20-1 Tyr8Phe Y8F not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LCA5L Ser265Cys S265C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - C2CD2 Arg253Cys R253C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C2CD2 Arg408Cys R408C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC19A1 Cys458Gly C458G not reviewed Insufficiently evaluated not reviewed unknown Array rs58227024 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - CECR2 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRODH Trp77Arg W77R not reviewed Insufficiently evaluated not reviewed unknown Array rs4819756 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CLTCL1 Val44Phe V44F not reviewed Insufficiently evaluated not reviewed unknown Array rs34869740 3 128 0.0234375 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPM1F Ser14Thr S14T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1671 Pro818Leu P818L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - KIAA1671 Val1198Ile V1198I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - -4 - 1 N - - LOC730005 Val381Met V381M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCF4 Val160Met V160M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10712 0.000560119 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ELFN2 Arg369His R369H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.226 - - 1 - 1 N - - GGA1 Glu318Lys E318K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGA1 Glu332Lys E332K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGA1 Glu405Lys E405K not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIOBP Glu2246Lys E2246K not reviewed Insufficiently evaluated not reviewed unknown Array 42 10100 0.00415841 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y - 0 - 3 N - - TRIOBP Glu533Lys E533K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CACNA1I Asp262Tyr D262Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10406 0.000192196 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ARHGAP8 Glu159Lys E159K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP8 Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR5-ARHGAP8 Glu281Lys E281K not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTLL8 Leu286Ser L286S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SELO Gly611Arg G611R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HDAC10 Val409Ile V409I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HDAC10 Val429Ile V429I not reviewed Insufficiently evaluated not reviewed unknown Array rs34402301 464 10758 0.0431307 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.809 - - -4 - 1 N - - SBF1 Arg1053Trp R1053W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10638 0.000470013 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - ATP2B4 Arg606His R606H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP2B4 Arg651His R651H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIP2 Pro471Leu P471L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAZL Thr32Ala T32A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SATB1 Gly621Ser G621S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.792 - - 2 - 1 N - - KCNH8 Pro989Ser P989S not reviewed Insufficiently evaluated not reviewed unknown Array rs34561654 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NGLY1 Ile403Leu I403L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NGLY1 Ile427Leu I427L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NGLY1 Ile445Leu I445L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - DLEC1 Glu676Lys E676K not reviewed Insufficiently evaluated not reviewed unknown Array rs34290809 18 10250 0.0017561 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 0 - 1 N - - SLC22A14 Leu466Pro L466P not reviewed Insufficiently evaluated not reviewed unknown Array rs34256819 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCN10A Val1697Ile V1697I not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYRIP Lys100Met K100M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 4 Y 2 N - - SCAP Arg267Gln R267Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - ATRIP Arg675Gln R675Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATRIP Arg702Gln R702Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.787 - - 0 - 1 N - - CYB561D2 Arg79Gln R79Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ATXN7 Ser920Arg S920R not reviewed Insufficiently evaluated not reviewed unknown Array 56 9824 0.00570033 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PRICKLE2 Arg563His R563H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 0 N - - SUCLG2 Gly198Arg G198R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF717 His752Gln H752Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 112 0.116071 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GOLGB1 Arg3077His R3077H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - KIAA1257 Thr297Met T297M not reviewed Insufficiently evaluated not reviewed unknown Array 132 9706 0.0135998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 2 - 1 N - - COL6A6 Arg323Trp R323W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - COL6A6 Ile1137Thr I1137T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10114 0.00346055 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - TMEM22 Tyr373Cys Y373C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF72 Pro135Leu P135L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9516 0.00052543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLSTN2 His896Tyr H896Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.646 - - -1 - 1 N - - DHX36 Gly46Val G46V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC39 Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array 51 9444 0.00540025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HTR3D Pro166Ala P166A not reviewed Insufficiently evaluated not reviewed unknown Array rs73183412 637 10758 0.0592117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - RTP4 Asp109His D109H not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - LPP Arg453His R453H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LPP Arg600His R600H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TLR10 Ile761Val I761V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TLR10 Ile459Thr I459T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLR10 Ile473Thr I473T not reviewed Insufficiently evaluated not reviewed unknown Array rs11466657 318 10756 0.0295649 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - KLB Ile847Asn I847N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.8 - - 7 Y 1 N - - PDGFRA Gly79Asp G79D not reviewed Insufficiently evaluated not reviewed unknown Array rs36035373 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.47 Y - 4 Y 2 N - - KIAA1211 Ala647Pro A647P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - LPHN3 Thr659Ala T659A not reviewed Insufficiently evaluated not reviewed unknown Array rs61747658 83 10348 0.00802087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.865 - - 1 - 2 N - - UGT2B28 Val508Ile V508I not reviewed Insufficiently evaluated not reviewed unknown Array 44 10346 0.00425285 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAMTS3 Pro513Thr P513T not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIN54 Thr106Ser T106S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LIN54 Thr327Ser T327S not reviewed Insufficiently evaluated not reviewed unknown Array rs34929292 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGAP24 Pro322Ala P322A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP24 Pro324Ala P324A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP24 Pro417Ala P417A not reviewed Insufficiently evaluated not reviewed unknown Array rs35521695 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.342 - - 2 - 1 N - - METAP1 Ser320Thr S320T not reviewed Insufficiently evaluated not reviewed unknown Array 7 9548 0.000733137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NPNT Pro381Leu P381L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NPNT Pro398Leu P398L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NPNT Pro411Leu P411L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CFI Ala240Gly A240G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.605 Y Y 1 - 3 N - - SYNPO2 Trp1086Arg W1086R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - C4ORF31 Thr201Ser T201S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10632 0.000752445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FREM3 Val17Ala V17A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF175 Arg292Cys R292C not reviewed Insufficiently evaluated not reviewed unknown Array 11 9728 0.00113076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - DCHS2 Thr1518Pro T1518P not reviewed Insufficiently evaluated not reviewed unknown Array rs74321456 494 10758 0.0459193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - DCHS2 Ala1151Thr A1151T not reviewed Insufficiently evaluated not reviewed unknown Array rs79535970 494 10758 0.0459193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.332 - - 1 - 1 N - - PDGFC Thr71Met T71M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MORF4 Glu99Lys E99K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WWC2 Ala1189Thr A1189T not reviewed Insufficiently evaluated not reviewed unknown Array rs4862155 543 10758 0.0504741 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - C4ORF41 Phe723Leu F723L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACSL1 Asp56Asn D56N not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.411 - - -1 - 1 N - - FAT1 Met2845Ile M2845I not reviewed Insufficiently evaluated not reviewed unknown Array 32 9916 0.00322711 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - NSUN2 Pro725Gln P725Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH5 Asn549Lys N549K not reviewed Insufficiently evaluated not reviewed unknown Array 127 10736 0.0118294 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - C5ORF42 Phe2033Cys F2033C not reviewed Insufficiently evaluated not reviewed unknown Array 1921 10758 0.178565 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C5ORF42 Pro1794Leu P1794L not reviewed Insufficiently evaluated not reviewed unknown Array 1093 10756 0.101618 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC30A5 Val438Met V438M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - RGNEF Thr1391Asn T1391N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CMYA5 Gly2935Arg G2935R not reviewed Insufficiently evaluated not reviewed unknown Array rs2278240 344 9588 0.0358782 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZFYVE16 Asp217Glu D217E not reviewed Insufficiently evaluated not reviewed unknown Array rs34251088 11 10722 0.00102593 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - RASGRF2 Leu713Trp L713W not reviewed Insufficiently evaluated not reviewed unknown Array rs16878472 205 10758 0.0190556 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.284 - - 5 Y 1 N - - GPR98 Ser199Ile S199I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745496 1 9682 0.000103284 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 5 Y 2 N - - GPR98 Leu6249Arg L6249R not reviewed Insufficiently evaluated not reviewed unknown Array rs41311625 28 9696 0.00288779 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DMXL1 Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - DMXL1 Ser466Arg S466R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - DMXL1 Arg2131Ser R2131S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PRRC1 Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 3 - 1 N - - FAM13B Glu104Lys E104K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 0 - 1 N - - PCDH12 Leu608Pro L608P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737137 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - CDX1 Gly143Arg G143R not reviewed Insufficiently evaluated not reviewed unknown Array 3 7052 0.000425411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAT2 Arg368Lys R368K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743253 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - HAVCR2 Thr101Ile T101I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP10B Ile1222Thr I1222T not reviewed Insufficiently evaluated not reviewed unknown Array 100 9900 0.010101 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - CDHR2 Met465Leu M465L not reviewed Insufficiently evaluated not reviewed unknown Array rs34767982 237 10758 0.0220301 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CDHR2 Gly564Arg G564R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743422 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PROP1 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800197 26 10756 0.00241725 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - DSP Glu1234Val E1234V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - DSP Glu1833Val E1833V benign Low clinical importance, Uncertain benign unknown Array 100 10758 0.00929541 1 0 1 1 1 ! Y - - 2 Y - - - - - - Y - - - 0.995 Y Y 5 Y 4 N 0 0 Reported to be benign with 1.5% allele frequency, although predicted to have damaging effect by Polyphen 2. ATXN1 Ile730Val I730V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - HIST1H2BL Lys12Arg K12R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIM10 Cys383Ser C383S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM10 Phe382Leu F382L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-C Pro304Ser P304S not reviewed Insufficiently evaluated not reviewed unknown Array rs45485294 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HLA-C Leu133Phe L133F not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.425 - - 0 - 1 N - - HLA-C Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array rs1050442 229 7460 0.030697 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - HLA-B Tyr33Ser Y33S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 3 N - - MICA Val244Leu V244L not reviewed Insufficiently evaluated not reviewed unknown Array rs41540613 59 3234 0.0182437 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DPB1 Leu207Met L207M not reviewed Insufficiently evaluated not reviewed unknown Array rs14362 587 7520 0.0780585 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - RGL2 Gly705Glu G705E not reviewed Insufficiently evaluated not reviewed unknown Array rs35273540 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - 6 Y 0 N - - FGD2 Arg306Cys R306C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - PGC Gln241His Q241H not reviewed Insufficiently evaluated not reviewed unknown Array rs4711690 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FRS3 Pro172Ser P172S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10566 0.00312322 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - PRICKLE4 Val3Gly V3G not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PKHD1 Val3278Asp V3278D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - MTRNR2L9 Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KHDRBS2 Pro333Leu P333L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753606 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 7 Y 0 N - - OGFRL1 Ser405Ala S405A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - -1 - 1 N - - FILIP1 Ser443Asn S443N not reviewed Insufficiently evaluated not reviewed unknown Array rs41269319 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF168 Arg366Ser R366S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIK2 Gln621His Q621H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - PRDM1 Lys188Glu K188E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM1 Lys54Glu K54E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKD1 Val727Leu V727L not reviewed Insufficiently evaluated not reviewed unknown Array 133 3234 0.0411255 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1919 Ser33Thr S33T not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - MAP3K5 Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array 256 8782 0.0291505 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EPM2A Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - C6ORF97 Arg553Gln R553Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34430497 439 10470 0.0419293 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THBS2 Gly830Ser G830S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQCE Arg367Leu R367L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQCE Arg383Leu R383L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10344 0.00183681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 2 N - - TNRC18 Ser694Thr S694T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9484 0.00010544 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - URGCP Arg389Gln R389Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - URGCP Arg423Gln R423Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - URGCP Arg432Gln R432Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10246 0.00302557 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ABCA13 Met3797Leu M3797L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GTF2IRD2B Glu479Lys E479K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - HIP1 Thr62Met T62M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - PION Val569Met V569M not reviewed Insufficiently evaluated not reviewed unknown Array 2 9692 0.000206355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SGCE Asp433Asn D433N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DYNC1I1 Ala37Ser A37S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP5J2 Ala9Gly A9G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Ser267Gly S267G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 Ser1694Asn S1694N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Thr2180Ile T2180I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFRD1 Thr127Ile T127I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - IFRD1 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRM8 Trp491Arg W491R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IMPDH1 Thr147Ala T147A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IMPDH1 Thr167Ala T167A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IMPDH1 Thr172Ala T172A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IMPDH1 Thr221Ala T221A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IMPDH1 Thr224Ala T224A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IMPDH1 Thr247Ala T247A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IMPDH1 Thr257Ala T257A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AKR1B15 Arg98Gln R98Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALD1 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGBL3 Arg275Cys R275C not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MGAM Pro1424Thr P1424T not reviewed Insufficiently evaluated not reviewed unknown Array 60 9820 0.00610998 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - CTAGE6P Lys418Arg K418R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARHGEF5 Met429Val M429V not reviewed Insufficiently evaluated not reviewed unknown Array rs1208149 15 62 0.241935 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SSPO Thr4766Arg T4766R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF29 Pro150Arg P150R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM176B Arg143Trp R143W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM176B Arg180Trp R180W not reviewed Insufficiently evaluated not reviewed unknown Array rs17256042 425 10758 0.0395055 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC4A2 Arg371Pro R371P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - DPP6 Lys747Glu K747E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP6 Lys749Glu K749E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP6 Lys811Glu K811E not reviewed Insufficiently evaluated not reviewed unknown Array 2 9770 0.000204708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD1 Ile1037Val I1037V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSMD1 Val187Ile V187I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10442 0.000191534 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MTUS1 Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array rs61733694 275 9784 0.0281071 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 1 N - - NEFM Val342Ala V342A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEFM Val718Ala V718A not reviewed Insufficiently evaluated not reviewed unknown Array rs57810298 20 10748 0.00186081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PXDNL Val1327Asp V1327D not reviewed Insufficiently evaluated not reviewed unknown Array rs11774588 431 9788 0.0440335 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM110B Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - CSPP1 Pro1160Ser P1160S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFHX4 Arg2898His R2898H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNBD1 Ser5Tyr S5Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 5 Y 2 N - - C8ORF47 Lys103Asn K103N not reviewed Insufficiently evaluated not reviewed unknown Array rs35339824 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STK3 Ser40Asn S40N not reviewed Insufficiently evaluated not reviewed unknown Array 32 9608 0.00333056 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - VPS13B Glu2560Lys E2560K not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - VPS13B Glu2585Lys E2585K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 0 - 2 N - - VPS13B Arg3561Gln R3561Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - VPS13B Arg3586Gln R3586Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 2 N - - ZNF706 Gly20Glu G20E not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RIMS2 His740Tyr H740Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIMS2 His948Tyr H948Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35099196 12 9818 0.00122224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL14A1 Pro855Leu P855L not reviewed Insufficiently evaluated not reviewed unknown Array rs2305606 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - ATAD2 Asp250Asn D250N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - CYP11B2 Leu327Phe L327F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.174 Y - 0 - 1 N - - C8ORF73 Ala73Val A73V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9984 0.00010016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSTA3 Arg320Gly R320G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10748 0.000279121 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - EPPK1 Leu2187Phe L2187F not reviewed Insufficiently evaluated not reviewed unknown Array 131 10282 0.0127407 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPPK1 Ala1119Thr A1119T not reviewed Insufficiently evaluated not reviewed unknown Array 31 9924 0.00312374 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Gln3417Leu Q3417L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Gln3427Leu Q3427L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Gln3435Leu Q3435L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Gln3449Leu Q3449L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Gln3453Leu Q3453L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Gln3476Leu Q3476L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Gln3586Leu Q3586L not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Val2993Ile V2993I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Val3003Ile V3003I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Val3011Ile V3011I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Val3025Ile V3025I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Val3029Ile V3029I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Val3052Ile V3052I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Val3162Ile V3162I not reviewed Insufficiently evaluated not reviewed unknown Array rs35027700 718 10214 0.0702957 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PLEC Arg2800His R2800H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg2810His R2810H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg2818His R2818H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg2832His R2832H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg2836His R2836H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg2859His R2859H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg2969His R2969H not reviewed Insufficiently evaluated not reviewed unknown Array rs6558407 3071 9990 0.307407 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLEC Ser2622Pro S2622P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ser2632Pro S2632P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ser2640Pro S2640P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ser2654Pro S2654P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ser2658Pro S2658P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ser2681Pro S2681P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ser2791Pro S2791P not reviewed Insufficiently evaluated not reviewed unknown Array rs7833924 5908 10426 0.56666 34 0 55 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OPLAH Leu396Val L396V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSF1 Ser333Ala S333A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - -1 - 1 N - - FOXH1 Asp328Glu D328E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - DOCK8 Asn1002Asp N1002D not reviewed Insufficiently evaluated not reviewed unknown Array rs73382631 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DOCK8 Asn970Asp N970D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOCK8 Ser1009Asn S1009N not reviewed Insufficiently evaluated not reviewed unknown Array rs34627722 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DOCK8 Ser977Asn S977N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA2026 Leu2039Trp L2039W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 5 Y 1 N - - TTC39B Pro461Leu P461L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC39B Pro557Leu P557L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC39B Pro613Leu P613L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 1 N - - TTC39B Pro624Leu P624L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC39B Pro626Leu P626L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BNC2 Ala923Val A923V not reviewed Insufficiently evaluated not reviewed unknown Array 258 10758 0.0239822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAUS6 Ser761Ile S761I not reviewed Insufficiently evaluated not reviewed unknown Array rs4977493 932 10314 0.0903626 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.881 - - 5 Y 1 N - - TAF1L Pro1266Arg P1266R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.635 - - 5 Y 1 N - - PGM5 Ile460Thr I460T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TJP2 Met645Ile M645I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TJP2 Met672Ile M672I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TJP2 Met699Ile M699I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TRPM6 Gln1658Arg Q1658R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TRPM6 Gln1663Arg Q1663R not reviewed Insufficiently evaluated not reviewed unknown Array rs55679040 78 10746 0.00725851 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.937 Y - 0 - 3 N - - SEMA4D Leu738Pro L738P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF189 Asn543Ser N543S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF189 Asn585Ser N585S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - RGS3 Gly103Val G103V not reviewed Insufficiently evaluated not reviewed unknown Array 198 10470 0.0189112 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - COL27A1 Ser610Leu S610L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.88 - - 6 Y 2 N - - RC3H2 Leu1064Phe L1064F not reviewed Insufficiently evaluated not reviewed unknown Array 6 9718 0.00061741 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - CRB2 Arg1249Gln R1249Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10732 0.00111815 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - FAM129B Asn550Lys N550K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM129B Asn563Lys N563K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM129B Ala272Thr A272T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM129B Ala285Thr A285T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTC16 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - COL5A1 Gly530Ser G530S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735045 316 10758 0.0293735 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SNAPC4 Asp40Gly D40G not reviewed Insufficiently evaluated not reviewed unknown Array 291 10758 0.0270496 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - PMPCA Ile201Met I201M not reviewed Insufficiently evaluated not reviewed unknown Array rs36064831 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - NOTCH1 Pro1377Ser P1377S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751542 149 9252 0.0161046 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - C9ORF86 Pro557Leu P557L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10490 0.000381315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF86 Pro558Leu P558L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ASMTL Val400Met V400M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASMTL Val442Met V442M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRSX Asn160Lys N160K not reviewed Insufficiently evaluated not reviewed unknown Array 140 10750 0.0130233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 1 - 1 N - - DHRSX Phe38Leu F38L not reviewed Insufficiently evaluated not reviewed unknown Array 731 10750 0.068 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ARSD Pro293Ser P293S not reviewed Insufficiently evaluated not reviewed unknown Array 12 8761 0.00136971 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ARSD Phe223Leu F223L not reviewed Insufficiently evaluated not reviewed unknown Array rs67272620 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NHSL2 Thr901Ile T901I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TGIF2LX Ala9Pro A9P not reviewed Insufficiently evaluated not reviewed unknown Array rs11575111 972 8757 0.110997 4 0 8 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 1 N - - PLXNB3 Met1558Thr M1558T not reviewed Insufficiently evaluated not reviewed unknown Array rs5987155 7106 8695 0.817251 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TMED5 Gln188Stop Q188X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RBM27 Leu16Stop L16X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NAA38 Arg11Stop R11X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC441869 Gly387Glu G387E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATAD3B Cys606Arg C606R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10754 0.00185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDK11A His529Gln H529Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDK11A His539Gln H539Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDK11A Cys109Arg C109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDK11A Trp109Arg W109R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK11B Cys109Arg C109R not reviewed Insufficiently evaluated not reviewed unknown Array rs1059830 14 120 0.116667 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CDK11B Cys75Arg C75R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MFN2 Val705Ile V705I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y -4 - 2 N - - TMEM51 Pro251Leu P251L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10380 0.000289017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - C1ORF89 Pro208Leu P208L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10744 0.000558451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PADI6 Gly671Asp G671D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLHDC7A Glu240Gln E240Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ALDH4A1 Pro16Leu P16L not reviewed Insufficiently evaluated not reviewed unknown Array 48 5932 0.00809171 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TXLNA Tyr86Asp Y86D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OSCP1 Ile219Thr I219T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSCP1 Tyr209His Y209H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BMP8B Arg389His R389H not reviewed Insufficiently evaluated not reviewed unknown Array rs41267039 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - PPCS Ser199Cys S199C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - PPCS Ser26Cys S26C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BEST4 Cys108Ser C108S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10062 0.000298151 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.663 - - 3 - 1 N - - CYP4A11 Glu466Gln E466Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.51 - - -2 - 1 N - - TAL1 Ser293Gly S293G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - ORC1 Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array rs3087476 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 2 - 1 N - - GBP5 Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 2 - 2 N - - AKNAD1 Cys654Tyr C654Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7522157 2601 10758 0.241774 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.168 - - 6 Y 0 N - - SORT1 Glu447Gly E447G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - GSTM5 Ala67Thr A67T not reviewed Insufficiently evaluated not reviewed unknown Array rs17854972 881 10758 0.0818925 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PPM1J Gly488Arg G488R not reviewed Insufficiently evaluated not reviewed unknown Array rs41312688 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - FLG Arg3564Leu R3564L not reviewed Insufficiently evaluated not reviewed unknown Array rs7518080 465 10758 0.0432236 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 6 Y 4 N - - RUSC1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - RUSC1 Met470Thr M470T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - RUSC1 Met60Thr M60T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEMA4A Arg581Gln R581Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TTC24 Ala158Ser A158S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CFHR2 Cys72Tyr C72Y not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - 6 Y 2 N - - ZBED6 Leu391Arg L391R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PM20D1 Asn467His N467H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CR1L Asn36Ser N36S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9690 0.000515995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - DNAH14 Gly4413Val G4413V not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADCK3 Glu176Lys E176K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.035 Y - 0 - 1 N - - PRSS38 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array 1155 10756 0.107382 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - CNST Cys31Tyr C31Y not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - TUBAL3 Arg210Trp R210W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF113 Met152Ile M152I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1217 Arg1627Ser R1627S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - MYO3A Ile1489Val I1489V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - WAC Ser198Arg S198R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - ERCC6 Arg1230Pro R1230P benign Low clinical importance, Uncertain benign unknown Array rs4253211 748 10758 0.0695297 3 0 3 0 0 ! Y - - 4 Y - - - - - - Y - - - 0.891 Y Y 5 Y 3 N 0 0 Probably benign. TYSND1 Val291Leu V291L not reviewed Insufficiently evaluated not reviewed unknown Array 77 5866 0.0131265 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.475 - - 0 - 1 N - - NPFFR1 Arg347Ser R347S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NPFFR1 Val131Ile V131I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.358 - - -4 - 1 N - - ADAMTS14 His352Asn H352N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - LRIT1 Leu154Met L154M not reviewed Insufficiently evaluated not reviewed unknown Array rs11200933 424 9278 0.0456995 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.042 - - -3 - 0 N - - FAM22D Thr155Ala T155A not reviewed Insufficiently evaluated not reviewed unknown Array rs3118500 16 30 0.533333 7 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CYP2C19 Asp360Asn D360N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - -1 - 0 N - - SH3PXD2A Asp689Asn D689N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZDHHC6 Asp41Asn D41N not reviewed Insufficiently evaluated not reviewed unknown Array rs34350728 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -1 - 2 N - - AFAP1L2 Asp16Asn D16N not reviewed Insufficiently evaluated not reviewed unknown Array rs41300231 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - -1 - 1 N - - TACC2 Ala2754Thr A2754T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - TACC2 Ala802Thr A802T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC2 Ala832Thr A832T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC2 Ala900Thr A900T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MMP23A Arg55Trp R55W not reviewed Insufficiently evaluated not reviewed unknown Array rs61753106 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IFITM2 Met30Val M30V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5B Ala2061Val A2061V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Pro4440Leu P4440L not reviewed Insufficiently evaluated not reviewed unknown Array rs2943516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRTAP5-5 Cys24Arg C24R not reviewed Insufficiently evaluated not reviewed unknown Array 1014 10628 0.0954084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR52B2 Arg236Gln R236Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNHD1 Asp4502Glu D4502E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OVCH2 Gly257Asp G257D not reviewed Insufficiently evaluated not reviewed unknown Array rs61759818 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TRIM66 Tyr280His Y280H not reviewed Insufficiently evaluated not reviewed unknown Array rs61743935 194 3234 0.0599876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TRIM66 Arg145Lys R145K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741649 194 3234 0.0599876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - KCNJ11 Leu183Val L183V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NELL1 Gly749Arg G749R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NELL1 Gly796Arg G796R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - EXT2 Ser270Leu S270L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - OR4A16 Val218Ile V218I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR4A16 Phe222Ser F222S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR10AG1 His43Asp H43D not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR5F1 Ser106Ala S106A not reviewed Insufficiently evaluated not reviewed unknown Array rs61888467 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR8I2 Ser172Gly S172G not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - OR8H2 Ile154Met I154M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734406 7 126 0.0555556 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR8H2 Val158Leu V158L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734403 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - OR5M3 Ile198Leu I198L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR5M3 Val137Asp V137D not reviewed Insufficiently evaluated not reviewed unknown Array rs61902880 6 126 0.047619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR5M11 Val280Leu V280L not reviewed Insufficiently evaluated not reviewed unknown Array rs17547207 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - SMTNL1 Arg345Gly R345G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MS4A15 Ala19Asp A19D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10184 0.000196386 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - STX5 Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NUDT22 Thr129Arg T129R not reviewed Insufficiently evaluated not reviewed unknown Array rs34448455 101 10666 0.00946934 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - BATF2 Gly6Ser G6S not reviewed Insufficiently evaluated not reviewed unknown Array rs12419103 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - TPCN2 Asn618Ser N618S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 0 - 1 N - - SYTL2 Ser336Cys S336C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM76B Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732601 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF9B Ala1219Thr A1219T not reviewed Insufficiently evaluated not reviewed unknown Array 13 9486 0.00137044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB4B Leu443Pro L443P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHG6 Arg224Trp R224W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHG6 Arg256Trp R256W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 7 Y 0 N - - VAMP1 Arg115Trp R115W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAS2R43 Phe158Tyr F158Y not reviewed Insufficiently evaluated not reviewed unknown Array 203 8672 0.0234087 6 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEKHA5 Leu798Val L798V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO1C1 Pro143Thr P143T not reviewed Insufficiently evaluated not reviewed unknown Array rs36010656 420 10758 0.0390407 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.02 - - 4 Y 0 N - - SLCO1C1 Pro25Thr P25T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND5B Ile610Met I610M not reviewed Insufficiently evaluated not reviewed unknown Array rs34129725 82 9570 0.00856844 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLL2 Pro2557Leu P2557L not reviewed Insufficiently evaluated not reviewed unknown Array 81 9828 0.00824176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT81 Gly52Arg G52R not reviewed Insufficiently evaluated not reviewed unknown Array rs2071588 1013 6046 0.167549 9 0 13 0 0 - - - - - - - - - - - - Y - - - 0.735 Y - 6 Y 1 N - - KRT82 Arg496Gln R496Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730587 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - KRT1 Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array rs34787940 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - OR6C3 Gly105Ala G105A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.54 - - 1 - 1 N - - MMP19 Pro245Ser P245S not reviewed Insufficiently evaluated not reviewed unknown Array rs1056784 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ARHGEF25 Arg2Gln R2Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.872 - - 0 - 2 N - - TXNRD1 Val440Ile V440I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNRD1 Val492Ile V492I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNRD1 Val590Ile V590I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLBD2 Leu539Pro L539P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLBD2 Leu571Pro L571P not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.522 - - 7 Y 1 N - - SDSL Ala236Thr A236T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PEBP1 His145Tyr H145Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1050625 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 Y Y -1 - 2 N - - DNAH10 His1053Tyr H1053Y not reviewed Insufficiently evaluated not reviewed unknown Array 127 10756 0.0118074 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH10 Val1896Met V1896M not reviewed Insufficiently evaluated not reviewed unknown Array 87 10566 0.00823396 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF605 Tyr103Cys Y103C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF605 Tyr72Cys Y72C not reviewed Insufficiently evaluated not reviewed unknown Array rs73157095 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - N4BP2L2 Arg506Ser R506S not reviewed Insufficiently evaluated not reviewed unknown Array rs17077569 479 9484 0.0505061 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NBEA Arg1278Gln R1278Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 9518 0.00136583 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF23 Thr504Ala T504A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C13ORF23 Thr526Ala T526A not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPS31 Thr241Met T241M not reviewed Insufficiently evaluated not reviewed unknown Array rs1854421 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 2 - 2 N - - TNFSF11 Pro36Arg P36R not reviewed Insufficiently evaluated not reviewed unknown Array 157 9136 0.0171848 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.976 Y - 5 Y 3 N - - MYCBP2 Val1689Ile V1689I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPC6 Arg555Lys R555K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.969 Y - -3 - 3 N - - C13ORF35 Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array 88 10748 0.00818757 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGEF40 Met1312Thr M1312T not reviewed Insufficiently evaluated not reviewed unknown Array rs943992 946 10758 0.0879346 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SALL2 Pro168Leu P168L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10638 0.00451213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IPO4 His131Tyr H131Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61752845 24 10200 0.00235294 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - -1 - 1 N - - PLEKHG3 Arg958His R958H not reviewed Insufficiently evaluated not reviewed unknown Array rs41309246 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.858 - - 1 - 2 N - - PAPLN His601Arg H601R not reviewed Insufficiently evaluated not reviewed unknown Array rs17182244 276 10742 0.0256935 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMD15 Met168Ile M168I not reviewed Insufficiently evaluated not reviewed unknown Array rs45527334 1689 10758 0.156999 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.971 - - -1 - 1 N - - GALC Arg184Cys R184C not reviewed Insufficiently evaluated not reviewed unknown Array rs1805078 392 9844 0.0398212 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.746 Y Y 8 Y 3 N - - INF2 Pro1096Ser P1096S not reviewed Insufficiently evaluated not reviewed unknown Array rs34251364 571 9782 0.0583725 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AHNAK2 Glu2075Gln E2075Q not reviewed Insufficiently evaluated not reviewed unknown Array 200 7858 0.0254518 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - AHNAK2 Ala1405Val A1405V not reviewed Insufficiently evaluated not reviewed unknown Array 4 100 0.04 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.651 - - 2 - 1 N - - AHNAK2 Gly1404Glu G1404E not reviewed Insufficiently evaluated not reviewed unknown Array 2 7240 0.000276243 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - C14ORF80 Ser107Gly S107G not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF80 Ser66Gly S66G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4M2 Leu228His L228H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4M2 Gly232Asp G232D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - C15ORF2 Leu1036Phe L1036F not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM1 Pro399Thr P399T not reviewed Insufficiently evaluated not reviewed unknown Array 89 9898 0.00899171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - SPTBN5 Val239Ile V239I not reviewed Insufficiently evaluated not reviewed unknown Array rs55830029 18 9012 0.00199734 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR76 Met557Thr M557T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DMXL2 Arg650Gln R650Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - KBTBD13 Gly265Asp G265D not reviewed Insufficiently evaluated not reviewed unknown Array 1 34 0.0294118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TBC1D21 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - VPS33B Arg389Gln R389Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - TMEM8A Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10722 0.00149226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PIGQ Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10726 0.00484803 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - WDR90 Arg1600Trp R1600W not reviewed Insufficiently evaluated not reviewed unknown Array rs35506206 86 10302 0.00834789 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IFT140 Arg279Pro R279P not reviewed Insufficiently evaluated not reviewed unknown Array rs4786350 341 10758 0.0316973 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TBL3 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF598 Asp383Val D383V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PKD1 Gly3300Arg G3300R benign Low clinical importance, Uncertain benign unknown Array 1 10386 9.6283e-05 1 0 1 0 0 ! Y - - 1 Y - - - - - - Y - - - 0.995 Y Y 6 Y 4 N 0 0 Rare, tentatively classified as benign. Other variants in this gene are reported to cause polycystic kidney disease in a dominant manner, but these were more severe null mutations (nonsense or frameshift). In addition, this was seen in a PGP participant who has not reported a family history of the disease. SRRM2 Ser1474Phe S1474F not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GLIS2 Val126Ile V126I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - GLYR1 Gln484His Q484H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - -1 - 0 N - - SPN Val269Ala V269A not reviewed Insufficiently evaluated not reviewed unknown Array rs34710374 131 10756 0.0121792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 2 N - - KCTD13 Ser167Pro S167P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - CES1 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array rs114788146 14 118 0.118644 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HYDIN Ala2612Thr A2612T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HYDIN Ser1935Leu S1935L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9310 0.00128894 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - HP Glu130Lys E130K not reviewed Insufficiently evaluated not reviewed unknown Array 5 108 0.0462963 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - HP Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PKD1L2 Cys2416Ser C2416S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L2 Ala2259Thr A2259T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFSF13 Gly50Arg G50R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PER1 Pro859Ser P859S not reviewed Insufficiently evaluated not reviewed unknown Array rs112980285 188 10756 0.0174786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.891 - - 3 - 2 N - - MYH13 Asp1614His D1614H not reviewed Insufficiently evaluated not reviewed unknown Array rs35069886 103 10694 0.00963157 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - MYH1 Arg1272Trp R1272W not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - SHISA6 Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLII Phe20Leu F20L not reviewed Insufficiently evaluated not reviewed unknown Array 158 9392 0.0168228 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SGK494 His65Leu H65L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF102 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 9710 0.00133882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP28 His145Arg H145R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR179 Lys1360Arg K1360R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - -3 - 0 N - - TMEM99 Ile4Met I4M not reviewed Insufficiently evaluated not reviewed unknown Array rs17474506 442 10376 0.0425983 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLCD3 Pro652Leu P652L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTLL6 Arg298His R298H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLX3 Gly278Arg G278R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10726 0.000279694 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.689 - - 6 Y 1 N - - BRIP1 Gly730Val G730V pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 1 1 1 Y - - 0 Y - - 4 Y 1 Y Y - - - 0.97 Y Y 8 Y 4 N 2 0 Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause Fanconi anemia (complementation group J). PECAM1 Leu613Arg L613R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SDK2 Val603Met V603M not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH17 Met61Val M61V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TSPAN10 Pro232Leu P232L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FASN Pro1779Leu P1779L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229426 88 10736 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - B3GNTL1 Pro194Leu P194L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10754 0.00781105 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - COLEC12 Val553Ile V553I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10554 0.00246352 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNDC2 Glu244Lys E244K not reviewed Insufficiently evaluated not reviewed unknown Array 10 68 0.147059 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.194 - - 0 - 0 N - - TXNDC2 Glu311Lys E311K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - DSG4 Asn496Ser N496S not reviewed Insufficiently evaluated not reviewed unknown Array 123 10756 0.0114355 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - ZNF407 Cys710Ser C710S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SHC2 Val577Met V577M not reviewed Insufficiently evaluated not reviewed unknown Array rs61749990 127 10494 0.0121022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ELANE Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.05 Y Y 1 - 2 N - - ELANE Ser225Pro S225P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 3 - 2 N - - C19ORF71 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF28 Arg472Gln R472Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 10622 0.00433063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMIGD2 Ala198Pro A198P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Met383Ile M383I not reviewed Insufficiently evaluated not reviewed unknown Array 4 98 0.0408163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - DPP9 Ala184Gly A184G not reviewed Insufficiently evaluated not reviewed unknown Array 31 10190 0.0030422 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAFB2 Thr457Ala T457A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748936 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 1 - 1 N - - TMEM146 Gln556Lys Q556K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - GPR108 Thr241Met T241M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10220 0.00440313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - MUC16 Thr10090Asn T10090N not reviewed Insufficiently evaluated not reviewed unknown Array 108 9944 0.0108608 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF559 Thr251Asn T251N not reviewed Insufficiently evaluated not reviewed unknown Array rs16979670 460 10758 0.0427589 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.109 - - 1 - 0 N - - ZNF266 Tyr296His Y296H not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - P2RY11 Ser349Asn S349N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPAN-P2RY11 Ser769Asn S769N not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC159 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF442 Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - MAN2B1 Asn412Ser N412S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GADD45GIP1 Lys127Arg K127R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - -3 - 2 N - - OR10H5 Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CPAMD8 Pro1769Thr P1769T not reviewed Insufficiently evaluated not reviewed unknown Array 42 3372 0.0124555 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NXNL1 Glu154Val E154V not reviewed Insufficiently evaluated not reviewed unknown Array rs56248314 957 10326 0.0926787 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 1 N - - ZNF431 His157Tyr H157Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LSR Glu577Gln E577Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LSR Glu626Gln E626Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LSR Glu645Gln E645Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62112774 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.877 - - -2 - 2 N - - ZNF585A Asn282Ser N282S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF585B Val627Ile V627I not reviewed Insufficiently evaluated not reviewed unknown Array rs4805206 11 56 0.196429 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KCNK6 Pro52Ala P52A not reviewed Insufficiently evaluated not reviewed unknown Array 114 9378 0.0121561 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - 2 - 1 N - - FCGBP Pro4788Ser P4788S not reviewed Insufficiently evaluated not reviewed unknown Array rs113103150 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CYP2A7 Phe341Tyr F341Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP2A7 Phe392Tyr F392Y not reviewed Insufficiently evaluated not reviewed unknown Array 451 10758 0.0419223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CYP2F1 Arg378His R378H not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEACAM1 Gly340Val G340V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CEACAM1 Gly371Val G371V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CEACAM20 Ile127Val I127V not reviewed Insufficiently evaluated not reviewed unknown Array rs35443082 634 10376 0.0611025 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DHDH Asp38Ala D38A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10722 0.000279798 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 5 Y 2 N - - ZNF880 Cys413Phe C413F not reviewed Insufficiently evaluated not reviewed unknown Array 44 7820 0.0056266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LOC646508 Thr118Lys T118K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP12 Phe402Leu F402L not reviewed Insufficiently evaluated not reviewed unknown Array rs34971363 2 10758 0.000185908 4 0 4 3 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - TARM1 Arg258Trp R258W not reviewed Insufficiently evaluated not reviewed unknown Array 179 3234 0.0553494 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TARM1 Arg111His R111H not reviewed Insufficiently evaluated not reviewed unknown Array 174 3234 0.0538033 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LILRA1 Pro429Leu P429L not reviewed Insufficiently evaluated not reviewed unknown Array rs45505406 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.566 - - 7 Y 1 N - - KIR2DL1 Val25Phe V25F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIR2DL1 His26Arg H26R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GP6 Gly499Ser G499S not reviewed Insufficiently evaluated not reviewed unknown Array rs41275822 243 9924 0.0244861 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRH Gly653Asp G653D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPL28 Ile64Leu I64L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZSCAN18 Ala167Thr A167T not reviewed Insufficiently evaluated not reviewed unknown Array rs45544138 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - ZSCAN18 Ala223Thr A223T not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZSCAN18 Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MZF1 Thr635Arg T635R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10748 0.00148865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJC5G Gly27Ser G27S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754191 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - EIF2B4 Arg305Gly R305G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - EIF2B4 Arg306Gly R306G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - EIF2B4 Arg326Gly R326G not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - XDH Ile646Val I646V not reviewed Insufficiently evaluated not reviewed unknown Array rs17323225 275 10758 0.0255624 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - THADA Leu1443Phe L1443F not reviewed Insufficiently evaluated not reviewed unknown Array rs61754254 54 9822 0.00549786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - 0 - 1 N - - CD207 Pro213Ser P213S not reviewed Insufficiently evaluated not reviewed unknown Array rs17006436 418 9866 0.0423677 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP26B1 Asn180Ser N180S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - DNAH6 Val786Ile V786I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.339 - - -4 - 1 N - - ANKRD36 Trp1280Gly W1280G not reviewed Insufficiently evaluated not reviewed unknown Array rs62156176 146 3234 0.0451453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC138 Asp99Tyr D99Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35794776 619 10700 0.0578505 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - IL1F10 Cys37Tyr C37Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 6 Y 0 N - - DBI Glu13Gly E13G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEB Thr4980Ile T4980I not reviewed Insufficiently evaluated not reviewed unknown Array rs35707762 85 9764 0.00870545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NEB Thr6693Ile T6693I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NEB Pro2846Leu P2846L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - NEB Pro225Leu P225L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SP3 Ser342Gly S342G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SP3 Thr161Ala T161A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL6 Ala329Thr A329T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTN Ala23906Thr A23906T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala24031Thr A24031T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala24098Thr A24098T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala30403Thr A30403T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Leu21292Arg L21292R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Leu21417Arg L21417R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Leu21484Arg L21484R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Leu27789Arg L27789R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Arg20359Lys R20359K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg20484Lys R20484K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg20551Lys R20551K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg26856Lys R26856K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg18515Gln R18515Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg18640Gln R18640Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg18707Gln R18707Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg25012Gln R25012Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu17529Phe L17529F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu17654Phe L17654F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu17721Phe L17721F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Leu24026Phe L24026F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gln16109Pro Q16109P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gln16234Pro Q16234P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gln16301Pro Q16301P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gln22606Pro Q22606P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Gln15543His Q15543H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Gln15668His Q15668H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Gln15735His Q15735H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Gln22040His Q22040H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Val14933Met V14933M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val15058Met V15058M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val15125Met V15125M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val21430Met V21430M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile13674Thr I13674T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile13799Thr I13799T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile13866Thr I13866T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile20171Thr I20171T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ala14593Val A14593V not reviewed Insufficiently evaluated not reviewed unknown Array rs16866412 290 9702 0.0298907 10 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala8096Val A8096V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala8221Val A8221V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala8288Val A8288V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr8694Ser T8694S not reviewed Insufficiently evaluated not reviewed unknown Array rs72650006 208 9534 0.0218167 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Arg7402Cys R7402C not reviewed Insufficiently evaluated not reviewed unknown Array rs72648987 180 9584 0.0187813 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg1395Pro R1395P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Arg1441Pro R1441P not reviewed Insufficiently evaluated not reviewed unknown Array rs72647876 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Asp60Tyr D60Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35683768 281 10758 0.0261201 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FSIP2 Thr6819Ile T6819I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALS2CR11 Ser1804Pro S1804P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALS2 Arg1653Cys R1653C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9630 0.000207684 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ALS2 Ile94Val I94V not reviewed Insufficiently evaluated not reviewed unknown Array rs3219154 349 9990 0.0349349 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CTLA4 Cys3Tyr C3Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - VIL1 Arg478Trp R478W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CCDC108 Asp1234Gly D1234G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - RESP18 Cys67Tyr C67Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 3222 0.000620732 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHPF Ala371Val A371V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHPF Ala533Val A533V not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - UGT1A3 Asn175Tyr N175Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPC1 Gly131Arg G131R not reviewed Insufficiently evaluated not reviewed unknown Array rs34976040 216 10708 0.0201718 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NKX2-2 Ala42Thr A42T not reviewed Insufficiently evaluated not reviewed unknown Array rs8192562 602 10758 0.0559584 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NINL Arg1276Cys R1276C not reviewed Insufficiently evaluated not reviewed unknown Array rs41310175 331 10758 0.0307678 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - TOX2 Met141Val M141V not reviewed Insufficiently evaluated not reviewed unknown Array rs41279272 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOX2 Met150Val M150V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOX2 Met99Val M99V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SNX21 His179Pro H179P not reviewed Insufficiently evaluated not reviewed unknown Array rs35599678 53 10756 0.00492748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - GNAS Pro376Leu P376L not reviewed Insufficiently evaluated not reviewed unknown Array rs61749697 199 9670 0.0205791 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - GNAS Arg314Trp R314W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CECR2 Ile739Val I739V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GNB1L Cys70Arg C70R not reviewed Insufficiently evaluated not reviewed unknown Array 56 10756 0.0052064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - PPIL2 Arg326Gln R326Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.68 - - 0 - 1 N - - KIAA1671 Glu122Gly E122G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GAS2L1 Ser512Arg S512R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C22ORF30 Arg790His R790H not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC42EP1 Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array 126 10738 0.011734 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TRIOBP Pro1030Arg P1030R not reviewed Insufficiently evaluated not reviewed unknown Array 99 9956 0.00994375 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 5 Y 3 N - - MICALL1 Arg285Trp R285W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICALL1 His685Arg H685R not reviewed Insufficiently evaluated not reviewed unknown Array rs34834842 265 10758 0.0246328 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - TAB1 Thr446Ile T446I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.913 - - 3 - 2 N - - TNRC6B Gly917Ala G917A not reviewed Insufficiently evaluated not reviewed unknown Array 16 9762 0.00163901 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.573 - - 1 - 1 N - - PMM1 Ala5Asp A5D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SERHL2 Leu9Pro L9P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - 7 Y 2 N - - WNT7B Ala144Asp A144D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CELSR1 Thr346Ser T346S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10754 0.00176678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - -2 - 1 N - - PLCL2 Pro919Leu P919L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLGA4 Gln581His Q581H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - GOLGA4 Ile1816Thr I1816T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNB1 Trp656Cys W656C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PLXNB1 Pro435Ser P435S not reviewed Insufficiently evaluated not reviewed unknown Array 68 10748 0.00632676 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 3 - 2 N - - C3ORF71 Val109Ala V109A not reviewed Insufficiently evaluated not reviewed unknown Array 164 7662 0.0214043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMKV Glu440Asp E440D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - SUCLG2 Val425Ile V425I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF717 Thr502Lys T502K not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Ser380Leu S380L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL6A5 Met56Thr M56T not reviewed Insufficiently evaluated not reviewed unknown Array 68 3234 0.0210266 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.766 - - 2 - 1 N - - TF Ser55Arg S55R not reviewed Insufficiently evaluated not reviewed unknown Array rs8177318 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CEP63 Gln185His Q185H not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PRR23C Leu73Met L73M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LEKR1 Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array rs62273959 154 3234 0.047619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LEKR1 Ala264Val A264V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC62 Lys126Arg K126R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10458 0.00162555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SEC62 Ile130Val I130V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10400 0.00173077 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NCEH1 Lys103Gln K103Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2302815 1435 10758 0.133389 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EHHADH Gln589Lys Q589K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC4 Asp2517Glu D2517E not reviewed Insufficiently evaluated not reviewed unknown Array 342 3208 0.106608 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GAK Ile413Val I413V not reviewed Insufficiently evaluated not reviewed unknown Array rs11722461 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.2 - - -4 - 1 N - - ZBTB49 Thr697Ala T697A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EVC2 Thr619Ala T619A not reviewed Insufficiently evaluated not reviewed unknown Array rs730469 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LOC650293 Val183Ile V183I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEL1L3 His1002Pro H1002P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - BEND4 Asn390Ser N390S not reviewed Insufficiently evaluated not reviewed unknown Array 139 9908 0.0140291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAICS Lys201Asn K201N not reviewed Insufficiently evaluated not reviewed unknown Array rs11549976 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PAICS Lys208Asn K208N not reviewed Insufficiently evaluated not reviewed unknown Array 413 9698 0.0425861 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTC Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - CDKL2 Asn112Ser N112S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FRAS1 Gln1671Lys Q1671K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - BMP2K Asn1057Tyr N1057Y not reviewed Insufficiently evaluated not reviewed unknown Array 55 9890 0.00556117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEC31A Ser5Ala S5A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAPK10 Val383Glu V383E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAPK10 Val421Glu V421E not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - MAPK10 Ala382Gly A382G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAPK10 Ala420Gly A420G not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAPK10 Gln277Glu Q277E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAPK10 Gln422Glu Q422E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LOC100288276 Glu159Gly E159G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UFSP2 Lys103Arg K103R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735474 205 10756 0.0190591 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - -3 - 2 N - - SPEF2 Lys867Gln K867Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72738833 242 9356 0.0258658 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - C5ORF42 Gly1248Asp G1248D not reviewed Insufficiently evaluated not reviewed unknown Array 330 10758 0.0306748 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERBB2IP Leu334Phe L334F not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - GPR98 Arg2733Leu R2733L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.027 Y Y 6 Y 2 N - - LOC644100 Arg129Trp R129W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC23A1 Asn473Ser N473S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SLC23A1 Asn477Ser N477S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHA8 Leu611Gln L611Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHB10 Asp446Asn D446N not reviewed Insufficiently evaluated not reviewed unknown Array 204 10742 0.0189909 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - PCDHB10 Ala467Gly A467G not reviewed Insufficiently evaluated not reviewed unknown Array rs61743180 163 10706 0.0152251 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - PCDHGB2 Pro569Thr P569T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHGA8 Pro148Ala P148A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHGA8 Ser503Trp S503W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGA8 Phe770Ser F770S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHGB5 Arg557Trp R557W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGB7 Val796Ile V796I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HTR4 Arg333His R333H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERGIC1 Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - UNC5A Ser193Tyr S193Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC34A1 Thr413Ala T413A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - F12 Leu120His L120H not reviewed Insufficiently evaluated not reviewed unknown Array rs41309750 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.656 Y - 6 Y 2 N - - PAK1IP1 Gly124Arg G124R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621438 90 10758 0.00836587 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SIRT5 Glu287Gly E287G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC34A1 Gly217Ser G217S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTN3A2 Arg169Lys R169K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BTN3A2 Arg188Lys R188K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POM121L2 Ser913Ile S913I not reviewed Insufficiently evaluated not reviewed unknown Array 25 3234 0.00773036 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-E Asp217Asn D217N not reviewed Insufficiently evaluated not reviewed unknown Array 10 7524 0.00132908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BAT3 Asn4Asp N4D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2 Glu186Asp E186D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DRB1 Tyr89Ser Y89S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLPS Leu8Pro L8P not reviewed Insufficiently evaluated not reviewed unknown Array rs2766597 383 10758 0.0356014 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.339 - - 7 Y 1 N - - COL21A1 Thr343Met T343M not reviewed Insufficiently evaluated not reviewed unknown Array rs35471617 531 9518 0.055789 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.454 - - 2 - 0 N - - PRIM2 Gln265Leu Q265L not reviewed Insufficiently evaluated not reviewed unknown Array rs3763183 1132 9502 0.119133 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PHF3 Val525Ile V525I not reviewed Insufficiently evaluated not reviewed unknown Array rs34288820 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - SGK1 Met32Val M32V not reviewed Insufficiently evaluated not reviewed unknown Array 61 7820 0.00780051 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NMBR Pro148His P148H not reviewed Insufficiently evaluated not reviewed unknown Array 261 10758 0.024261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF103 Ile772Thr I772T not reviewed Insufficiently evaluated not reviewed unknown Array rs78851618 143 3234 0.0442177 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAET1G His263Pro H263P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - TCP10L2 Ser283Ala S283A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RADIL Pro858Leu P858L not reviewed Insufficiently evaluated not reviewed unknown Array 37 8146 0.00454211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP42 His516Tyr H516Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61732169 106 9760 0.0108607 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCB5 Asp370Gly D370G not reviewed Insufficiently evaluated not reviewed unknown Array rs61732039 801 7814 0.102508 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RP9 Lys210Arg K210R not reviewed Insufficiently evaluated not reviewed unknown Array 1748 10706 0.163273 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 1 N - - VPS41 Arg818His R818H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS41 Arg843His R843H not reviewed Insufficiently evaluated not reviewed unknown Array rs1059508 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDK13 Thr500Ala T500A not reviewed Insufficiently evaluated not reviewed unknown Array rs3735135 658 10758 0.0611638 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 0 N - - HECW1 Glu502Gln E502Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61756576 34 10298 0.00330161 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF479 Ala254Ser A254S not reviewed Insufficiently evaluated not reviewed unknown Array 293 10444 0.0280544 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FKBP6 Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKBP6 Arg36Gln R36Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 9898 0.000606183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 0 - 0 N - - ZAN Thr2474Asn T2474N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Thr175Met T175M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC12 His326Arg H326R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Pro332Thr P332T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC12 Ser3554Pro S3554P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC12 Leu4568Phe L4568F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC12 Arg4570His R4570H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Ser4574Leu S4574L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLCN1 Gly920Arg G920R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SSPO Glu30Lys E30K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Gly1344Arg G1344R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO Met3481Lys M3481K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBM33 Gln813Arg Q813R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - MYOM2 Thr304Met T304M not reviewed Insufficiently evaluated not reviewed unknown Array rs34842328 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Gly2524Arg G2524R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOC100132396 Pro284His P284H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RP1L1 Ala1818Thr A1818T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10384 0.000866718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTUS1 Trp208Ser W208S not reviewed Insufficiently evaluated not reviewed unknown Array rs73206291 651 9826 0.0662528 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 1 N - - C8ORF58 Pro221Ser P221S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10728 0.00615213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - R3HCC1 Thr167Ile T167I not reviewed Insufficiently evaluated not reviewed unknown Array 89 3234 0.0275201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEX15 His2593Arg H2593R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PEX2 Trp250Arg W250R pathogenic High clinical importance, Uncertain pathogenic recessive Array 86 10758 0.00799405 1 0 1 1 1 1 Y - - 0 Y - - 4 Y 1 - Y - - - 0.999 Y Y 7 Y 4 N 2 0 Unreported, predicted to be damaging. Other recessive missense mutations in this gene cause severe disorders involving defects in peroxisomes. RRM2B Ala41Thr A41T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SCRIB Glu466Gln E466Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - EPPK1 Asp1670Gly D1670G not reviewed Insufficiently evaluated not reviewed unknown Array 147 9992 0.0147118 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEC Thr3875Met T3875M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3885Met T3885M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3893Met T3893M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3907Met T3907M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3911Met T3911M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3934Met T3934M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr4044Met T4044M not reviewed Insufficiently evaluated not reviewed unknown Array 73 10246 0.00712473 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Arg537Gln R537Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg547Gln R547Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg555Gln R555Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg569Gln R569Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg573Gln R573Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg596Gln R596Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg706Gln R706Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3135103 147 10306 0.0142635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OPLAH Gly584Cys G584C not reviewed Insufficiently evaluated not reviewed unknown Array rs10107332 149 10460 0.0142447 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DOCK8 Ala529Val A529V not reviewed Insufficiently evaluated not reviewed unknown Array rs17673268 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRD Thr1309Ile T1309I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRD Thr1315Ile T1315I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRD Thr1318Ile T1318I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRD Thr1319Ile T1319I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRD Thr1725Ile T1725I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.772 - - 3 - 1 N - - FREM1 Val38Met V38M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAUS6 Ser552Thr S552T not reviewed Insufficiently evaluated not reviewed unknown Array rs41269003 400 10756 0.0371885 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.426 - - -2 - 1 N - - PLIN2 Ser251Pro S251P not reviewed Insufficiently evaluated not reviewed unknown Array rs35568725 440 10758 0.0408998 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.093 - - 3 - 0 N - - TJP2 Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FAM189A2 Ala295Ser A295S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCSK5 Gly970Arg G970R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMOD1 Leu326Arg L326R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - ACTL7A Arg395Gly R395G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - GSN Arg430Cys R430C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - GSN Arg441Cys R441C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - GSN Arg481Cys R481C not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.505 Y - 8 Y 2 N - - DAB2IP Ala354Val A354V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DAB2IP Ala450Val A450V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GARNL3 Asp576Glu D576E not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.111 - - -2 - 0 N - - C9ORF114 Glu31Lys E31K not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AIF1L Cys50Arg C50R not reviewed Insufficiently evaluated not reviewed unknown Array rs2315075 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BAT2L1 Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC2A6 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10744 0.00372301 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - KIAA0649 Arg381Leu R381L not reviewed Insufficiently evaluated not reviewed unknown Array rs34151777 518 10756 0.0481592 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - QSOX2 Arg524Trp R524W not reviewed Insufficiently evaluated not reviewed unknown Array rs55964657 49 10720 0.00457089 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 7 Y 2 N - - SNAPC4 Gly1342Arg G1342R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10694 0.00018702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - FBXW5 Arg508Gln R508Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45559439 203 10656 0.0190503 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ENTPD2 Ala103Val A103V not reviewed Insufficiently evaluated not reviewed unknown Array rs34618694 110 10754 0.0102288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - C9ORF173 Ser126Gly S126G not reviewed Insufficiently evaluated not reviewed unknown Array rs28657439 120 10088 0.0118953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXD3 Asp287Asn D287N not reviewed Insufficiently evaluated not reviewed unknown Array 17 9936 0.00171095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - CSF2RA Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASMTL His470Arg H470R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASMTL His512Arg H512R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASMTL His528Arg H528R not reviewed Insufficiently evaluated not reviewed unknown Array 587 10188 0.0576168 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 1 N - - ASMTL Gly376Ser G376S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASMTL Gly418Ser G418S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASMTL Gly434Ser G434S not reviewed Insufficiently evaluated not reviewed unknown Array rs11553052 1581 10436 0.151495 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ASMTL Tyr306His Y306H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASMTL Tyr348His Y348H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASMTL Tyr364His Y364H not reviewed Insufficiently evaluated not reviewed unknown Array rs35466875 1189 10184 0.116752 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - ASMTL Ser170Pro S170P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASMTL Ser212Pro S212P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASMTL Ser228Pro S228P not reviewed Insufficiently evaluated not reviewed unknown Array rs11553051 1286 9950 0.129246 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - RBMXL3 Arg1049Gly R1049G not reviewed Insufficiently evaluated not reviewed unknown Array 196 2478 0.079096 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MAGEC1 Pro274Arg P274R not reviewed Insufficiently evaluated not reviewed unknown Array rs176043 356 8319 0.0427936 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRT83 Cys222Stop C222X not reviewed Insufficiently evaluated not reviewed unknown Array rs2857667 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 4751 10758 0.441625 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CES5A Gln174Stop Q174X not reviewed Insufficiently evaluated not reviewed unknown Array rs13338754 345 10758 0.0320692 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CES5A Gln203Stop Q203X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LOC645781 Ser306Stop S306X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM71E2 Glu882Stop E882X not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM8A1 Arg395Stop R395X not reviewed Insufficiently evaluated not reviewed unknown Array 8 126 0.0634921 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SAMD11 Pro486Leu P486L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10152 0.0072892 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - ATAD3B Lys198Arg K198R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -3 - 0 N - - NOL9 Cys13Arg C13R not reviewed Insufficiently evaluated not reviewed unknown Array rs12742808 101 7590 0.013307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NPPB Arg47His R47H not reviewed Insufficiently evaluated not reviewed unknown Array rs5229 59 10750 0.00548837 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLCNKB Gly15Glu G15E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - UBR4 Ser3995Asn S3995N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - AKR7L Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 329 2958 0.111224 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ALPL Tyr186His Y186H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ALPL Tyr208His Y208H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ALPL Val445Ala V445A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ALPL Val467Ala V467A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ALPL Val522Ala V522A not reviewed Insufficiently evaluated not reviewed unknown Array rs34605986 795 10628 0.0748024 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - CNKSR1 Thr76Ile T76I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 1 N - - TMEM125 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 130 10756 0.0120863 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - C1ORF175 Glu683Lys E683K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10006 0.00379772 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INADL Gly1543Val G1543V not reviewed Insufficiently evaluated not reviewed unknown Array rs12140153 692 10758 0.0643242 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.74 - - 8 Y 0 N - - TGFBR3 Met312Thr M312T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - DBT Ser242Pro S242P not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - AMPD1 Lys316Ile K316I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - AMPD1 Lys320Ile K320I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.964 Y - 6 Y 3 N - - PDE4DIP Arg401Gln R401Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10750 0.00223256 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - PDE4DIP Arg564Gln R564Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLG Ala2427Ser A2427S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -1 - 2 N - - SPRR2E Pro44Ser P44S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPRR2E Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MSTO1 Arg191Trp R191W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FCRL1 Ile209Val I209V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10756 0.00743771 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NCSTN Asn417Tyr N417Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 5 Y 0 N - - DUSP27 Arg901His R901H not reviewed Insufficiently evaluated not reviewed unknown Array rs61748781 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.732 - - 1 - 1 N - - TOR1AIP1 Ser143Phe S143F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10746 0.000930578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - LMOD1 Val47Leu V47L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10082 0.000991866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTN2 Arg72Trp R72W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IKBKE Pro628Leu P628L not reviewed Insufficiently evaluated not reviewed unknown Array rs3748022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRSS38 Pro67Arg P67R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - OBSCN Arg2797Gln R2797Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10114 0.000593237 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - OBSCN Glu4661Ala E4661A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10502 0.000761759 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.247 - - 3 - 1 N - - DISC1 Glu629Gln E629Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DISC1 Glu751Gln E751Q not reviewed Insufficiently evaluated not reviewed unknown Array 120 9778 0.0122724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -2 - 2 N - - DISC1 Glu783Gln E783Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - PCNXL2 Ala1989Thr A1989T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10190 0.00235525 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR1 Asn1630Asp N1630D not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - RYR2 Ser756Asn S756N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9834 0.000101688 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OR2T33 Ser87Asn S87N not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2M7 His176Arg H176R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - C10ORF18 Ser2065Ile S2065I not reviewed Insufficiently evaluated not reviewed unknown Array rs45596231 86 9992 0.00860688 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTCHD3 Arg630Gln R630Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 2 N - - FAM21A Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 3 88 0.0340909 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRG3 Asn355Lys N355K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NRG3 Asn551Lys N551K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBTD1 Gln216His Q216H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GBF1 Arg1557Trp R1557W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PSD Arg960Trp R960W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - SUFU Arg280Gln R280Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - COL17A1 Leu361Val L361V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NRAP Ile546Thr I546T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRAP Ile581Thr I581T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.468 - - 3 - 1 N - - KNDC1 Ala128Ser A128S not reviewed Insufficiently evaluated not reviewed unknown Array rs11101618 230 10716 0.0214632 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.076 - - -1 - 0 N - - KNDC1 Ser155Gly S155G not reviewed Insufficiently evaluated not reviewed unknown Array rs11101619 234 10740 0.0217877 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KNDC1 Arg156Gln R156Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11101620 237 10736 0.0220753 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KNDC1 Val543Ile V543I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KNDC1 Cys603Tyr C603Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41317288 252 10758 0.0234244 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - ANO9 Arg52Trp R52W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - MUC6 Gly181Arg G181R not reviewed Insufficiently evaluated not reviewed unknown Array 10 9440 0.00105932 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5B Met2194Thr M2194T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TOLLIP Ala222Ser A222S not reviewed Insufficiently evaluated not reviewed unknown Array rs5744015 380 10758 0.0353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SYT8 Val158Ile V158I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10722 9.3266e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR52N4 Ser219Phe S219F not reviewed Insufficiently evaluated not reviewed unknown Array 60 10622 0.00564865 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SOX6 Asp68Asn D68N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 1 N - - SOX6 Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SOX6 Asp81Asn D81N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEKHA7 Thr236Arg T236R not reviewed Insufficiently evaluated not reviewed unknown Array rs35068039 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 3 - 2 N - - SPTY2D1 Arg447Gln R447Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16935599 455 10758 0.0422941 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - PAMR1 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACCSL Arg50Gly R50G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10388 0.000385059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - MYBPC3 Glu312Gln E312Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ZP1 Asp107Asn D107N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.887 - - -1 - 2 N - - SLC15A3 Gly365Val G365V not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AHNAK Val4271Ala V4271A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - 2 - 1 N - - MRPL49 Val124Met V124M not reviewed Insufficiently evaluated not reviewed unknown Array rs34713603 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 0 - 0 N - - SSH3 Arg600Leu R600L not reviewed Insufficiently evaluated not reviewed unknown Array rs1573536 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - SERPINH1 Gly31Ala G31A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10724 0.000932487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF30 Ser854Gly S854G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - B3GNT1 Gly273Val G273V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAT3 Gln2995Lys Q2995K not reviewed Insufficiently evaluated not reviewed unknown Array rs62622785 362 9840 0.0367886 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - JRKL Thr150Ala T150A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASP12 Thr21Ile T21I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.721 - - 3 - 1 N - - MFRP Leu458Phe L458F not reviewed Insufficiently evaluated not reviewed unknown Array 102 10756 0.00948308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.245 - - 0 - 1 N - - TECTA Ser1671Leu S1671L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.16 Y - 6 Y 1 N - - OR8G5 Tyr265Ser Y265S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR8B2 Ser93Thr S93T not reviewed Insufficiently evaluated not reviewed unknown Array rs73025504 2 114 0.0175439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN6 Ser562Pro S562P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLSTN3 Ser209Gly S209G not reviewed Insufficiently evaluated not reviewed unknown Array rs7302230 479 10758 0.044525 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PIK3C2G Ala261Glu A261E not reviewed Insufficiently evaluated not reviewed unknown Array rs7133666 614 9526 0.0644552 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLEKHA5 Pro1038Ser P1038S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PLEKHA5 Pro1096Ser P1096S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALG10 Ser392Pro S392P not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - KIF21A Gly627Val G627V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NR4A1 Ile512Met I512M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - -1 - 1 N - - KIAA0748 Arg475Gln R475Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733025 289 9948 0.0290511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - METTL7B Leu21Phe L21F not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGA7 Glu789Lys E789K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ITGA7 Glu882Lys E882K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ITGA7 Glu886Lys E886K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PTPRB Val395Ala V395A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRB Val613Ala V613A not reviewed Insufficiently evaluated not reviewed unknown Array rs36027530 60 9968 0.00601926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BBS10 Gln147Arg Q147R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 0 - 2 N - - PPP1R12A Pro585Leu P585L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPP1R12A Pro672Leu P672L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SVOP Gly105Ser G105S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANAPC7 Ser33Asn S33N not reviewed Insufficiently evaluated not reviewed unknown Array 287 10752 0.0266927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCL7A Asn120Thr N120T not reviewed Insufficiently evaluated not reviewed unknown Array rs34821485 364 10758 0.0338353 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 1 N - - DNAH10 Lys3161Glu K3161E not reviewed Insufficiently evaluated not reviewed unknown Array 55 9868 0.00557357 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ULK1 Ala362Val A362V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731338 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 2 - 1 N - - ANKLE2 Pro691Leu P691L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9990 0.0003003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FREM2 Cys914Gly C914G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - NEK3 His23Leu H23L not reviewed Insufficiently evaluated not reviewed unknown Array rs17482764 297 9766 0.0304116 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C13ORF34 Ser210Leu S210L not reviewed Insufficiently evaluated not reviewed unknown Array rs9543107 127 9586 0.0132485 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK9 Ser331Arg S331R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOCK9 Ser332Arg S332R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - 3 - 0 N - - SLC10A2 Asn27Ser N27S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - TEP1 Ala2310Ser A2310S not reviewed Insufficiently evaluated not reviewed unknown Array rs35929175 68 10758 0.00632088 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TEP1 Pro1159His P1159H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ARHGEF40 Arg685Cys R685C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744857 669 10758 0.0621863 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.517 - - 8 Y 0 N - - JUB Glu310Gln E310Q not reviewed Insufficiently evaluated not reviewed unknown Array 201 10724 0.018743 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 1 N - - PYGL Val188Ile V188I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - GPR137C Ala185Ser A185S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9652 0.00020721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.458 - - -1 - 1 N - - C14ORF38 Gly164Arg G164R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHG3 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHG3 Arg254Cys R254C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFYVE26 Val963Leu V963L not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - 0 - 1 N - - PAPLN Arg832Trp R832W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10688 0.00065494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COQ6 Arg262Gly R262G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COQ6 Arg337Gly R337G not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MOAP1 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KIAA1409 Asn1083His N1083H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTMR10 Lys24Arg K24R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FMN1 Glu293Gly E293G not reviewed Insufficiently evaluated not reviewed unknown Array 4 9954 0.000401848 2 0 3 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - SPRED1 Asn10Lys N10K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.03 Y - 1 - 1 N - - PLA2G4E Ala39Gly A39G not reviewed Insufficiently evaluated not reviewed unknown Array rs55746726 5 124 0.0403226 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4F Ala433Thr A433T not reviewed Insufficiently evaluated not reviewed unknown Array 499 10758 0.0463841 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.489 - - 1 - 1 N - - ZFP106 Pro1162Thr P1162T not reviewed Insufficiently evaluated not reviewed unknown Array rs34983340 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - STARD9 Arg1777Gly R1777G not reviewed Insufficiently evaluated not reviewed unknown Array rs28680600 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STARD9 Ala2205Val A2205V not reviewed Insufficiently evaluated not reviewed unknown Array rs16957055 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STARD9 Arg3015Gly R3015G not reviewed Insufficiently evaluated not reviewed unknown Array rs3742995 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STARD9 Tyr3469Cys Y3469C not reviewed Insufficiently evaluated not reviewed unknown Array rs16957061 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STRC Phe60Ser F60S not reviewed Insufficiently evaluated not reviewed unknown Array rs2729509 257 1186 0.216695 8 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - ONECUT1 Gly96Asp G96D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 4 Y 2 N - - KIF23 Phe515Leu F515L not reviewed Insufficiently evaluated not reviewed unknown Array rs17310879 108 10758 0.010039 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RPLP1 Gly41Ser G41S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPLP1 Gly66Ser G66S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NEO1 Arg627Gln R627Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SV2B Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDIA2 Asp483Tyr D483Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - PTX4 Leu166Pro L166P not reviewed Insufficiently evaluated not reviewed unknown Array rs2667674 11 118 0.0932203 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NUBP2 Thr180Met T180M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10756 0.00502045 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - TBL3 Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array 171 10736 0.0159277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCC1 Arg230Pro R230P not reviewed Insufficiently evaluated not reviewed unknown Array rs8187848 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF62 Arg994Cys R994C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CD19 Arg515His R515H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DOC2A Gly47Arg G47R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - SEPT1 Gly80Val G80V not reviewed Insufficiently evaluated not reviewed unknown Array rs34518080 295 10758 0.0274215 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.946 - - 8 Y 2 N - - ITGAL Val1010Leu V1010L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGAL Val1094Leu V1094L not reviewed Insufficiently evaluated not reviewed unknown Array rs11574949 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - CAPNS2 Asp99His D99H not reviewed Insufficiently evaluated not reviewed unknown Array 142 10000 0.0142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - CES5A Gln305His Q305H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.845 - - -1 - 1 N - - CES5A Gln334His Q334H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CES5A Arg176Trp R176W not reviewed Insufficiently evaluated not reviewed unknown Array rs13338753 161 10758 0.0149656 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CES5A Arg205Trp R205W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L3 Arg1383Cys R1383C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFHX3 Pro2213Ser P2213S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFHX3 Pro3127Ser P3127S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLKL Gly202Val G202V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MON1B Arg447Trp R447W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PKD1L2 Leu1208Phe L1208F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF469 Ser363Leu S363L not reviewed Insufficiently evaluated not reviewed unknown Array 1 3124 0.000320102 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - FAM38A Pro1398Leu P1398L not reviewed Insufficiently evaluated not reviewed unknown Array rs11645197 810 3088 0.262306 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GP1BA Pro411Leu P411L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9514 0.000420433 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - USP6 Tyr162His Y162H not reviewed Insufficiently evaluated not reviewed unknown Array 614 10758 0.0570738 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C17ORF49 Asp186His D186H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYH13 Thr237Ile T237I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10702 0.00214913 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.91 - - 3 - 2 N - - ZNF286A Met113Val M113V not reviewed Insufficiently evaluated not reviewed unknown Array rs2530071 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF286A Asn164Lys N164K not reviewed Insufficiently evaluated not reviewed unknown Array rs2530070 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KSR1 Val602Ile V602I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGALS9 Arg177Cys R177C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - EFCAB5 Ala1120Ser A1120S not reviewed Insufficiently evaluated not reviewed unknown Array 8 9674 0.000826958 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 2 N - - C17ORF102 Gly23Trp G23W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLFN11 Arg489Cys R489C not reviewed Insufficiently evaluated not reviewed unknown Array 127 10616 0.0119631 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - KRTAP16-1 Leu357Ile L357I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JUP Arg142His R142H not reviewed Insufficiently evaluated not reviewed unknown Array rs41283425 462 10758 0.0429448 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PTRF Ser56Arg S56R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - HSD17B1 Ser223Asn S223N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCAKD Arg147Trp R147W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LRRC37A Ser1272Trp S1272W not reviewed Insufficiently evaluated not reviewed unknown Array rs273530 35 6142 0.00569847 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RPRML Leu25Met L25M not reviewed Insufficiently evaluated not reviewed unknown Array 236 4584 0.0514834 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - XYLT2 Ala569Val A569V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARSG Tyr20Phe Y20F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ABCA9 Leu1364Pro L1364P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 7 Y 1 N - - DNAI2 Val483Ile V483I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - KIAA0195 Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10736 0.000279433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 2 N - - CBX8 Asn303Ser N303S not reviewed Insufficiently evaluated not reviewed unknown Array rs61758361 97 10752 0.00902158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC40 Leu752Pro L752P not reviewed Insufficiently evaluated not reviewed unknown Array 183 9718 0.018831 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - RNF213 His708Asp H708D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF213 His757Asp H757D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF213 Lys4781Glu K4781E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXK2 Ile559Thr I559T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - MYOM1 Thr727Ala T727A not reviewed Insufficiently evaluated not reviewed unknown Array 39 9842 0.00396261 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLGAP1 Ser196Arg S196R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - POLI Val597Ala V597A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR7 Trp1437Cys W1437C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR7 Trp1470Cys W1470C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CTDP1 Ala496Val A496V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - POLRMT Leu1199Ser L1199S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10474 0.00420088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATP8B3 Asn1225His N1225H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP8B3 Val1132Ile V1132I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP8B3 Val1169Ile V1169I not reviewed Insufficiently evaluated not reviewed unknown Array rs16994563 548 10548 0.051953 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMPRSS9 Gly104Ser G104S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - C19ORF77 Asp121Tyr D121Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLIN5 Arg306Trp R306W not reviewed Insufficiently evaluated not reviewed unknown Array rs1062223 1226 8574 0.14299 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - DENND1C Glu6Asp E6D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.2 - - -2 - 1 N - - CD70 Arg192Ser R192S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.149 - - 3 - 0 N - - FBN3 Pro374Arg P374R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10740 0.000465549 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD320 Gly178Arg G178R not reviewed Insufficiently evaluated not reviewed unknown Array rs2336573 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF558 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Glu12941Lys E12941K not reviewed Insufficiently evaluated not reviewed unknown Array 220 9940 0.0221328 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF559 Glu191Lys E191K not reviewed Insufficiently evaluated not reviewed unknown Array rs74575837 232 10758 0.0215653 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - ZNF442 Tyr237Cys Y237C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - C19ORF62 Glu256Lys E256K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10280 9.7276e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPATCH1 Leu834Gln L834Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - ZNF302 Arg312His R312H not reviewed Insufficiently evaluated not reviewed unknown Array 485 10758 0.0450827 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FXYD1 Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array rs61753924 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP33 Arg746Gln R746Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10732 0.000279537 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.928 - - 0 - 2 N - - ARHGAP33 Arg771Gln R771Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPRED3 His51Tyr H51Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.745 - - -1 - 1 N - - IL29 Thr28Ala T28A not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.092 - - 1 - 0 N - - LGALS16 Leu26Pro L26P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF780B Ala412Thr A412T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PRX Ala244Val A244V not reviewed Insufficiently evaluated not reviewed unknown Array 86 9016 0.0095386 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 2 - 2 N - - ATP5SL Cys132Ser C132S not reviewed Insufficiently evaluated not reviewed unknown Array rs1043413 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP5SL Cys165Ser C165S not reviewed Insufficiently evaluated not reviewed unknown Array rs1043413 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - IRGC Gly427Asp G427D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - FBXO46 Gly164Ser G164S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9720 0.00010288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGFL1 Gly24Arg G24R not reviewed Insufficiently evaluated not reviewed unknown Array 760 9750 0.0779487 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 1 N - - CCDC9 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 144 10624 0.0135542 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX34 Arg734Cys R734C not reviewed Insufficiently evaluated not reviewed unknown Array rs61751860 1045 9634 0.10847 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BSPH1 Thr12Met T12M not reviewed Insufficiently evaluated not reviewed unknown Array rs60213124 616 3234 0.190476 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.188 - - 2 - 0 N - - FAM83E Gly244Ser G244S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10280 0.00359922 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - BCAT2 Phe139Leu F139L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - BCAT2 Phe47Leu F47L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC6A16 Leu313Arg L313R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9854 0.000304444 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PRRG2 Arg104Gln R104Q not reviewed Insufficiently evaluated not reviewed unknown Array 66 10752 0.00613839 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - IRF3 Val12Leu V12L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC11 Val485Leu V485L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC11 Val581Leu V581L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KLK4 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIGLEC6 Leu210Phe L210F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC6 Leu246Phe L246F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC6 Leu251Phe L251F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC6 Leu262Phe L262F not reviewed Insufficiently evaluated not reviewed unknown Array rs2005199 567 10750 0.0527442 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.452 - - 0 - 0 N - - SIGLEC6 Leu273Phe L273F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - ZNF761 Val395Ile V395I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LILRB4 Gly12Arg G12R not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.427 - - 6 Y 1 N - - KIR2DL3 Val5Ile V5I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR3DL2 Arg34Trp R34W not reviewed Insufficiently evaluated not reviewed unknown Array 449 9102 0.0493298 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPP1R12C Arg319Gln R319Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - UBE2S Glu176Ala E176A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748180 245 9610 0.0254943 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSC5D Gly536Ser G536S not reviewed Insufficiently evaluated not reviewed unknown Array rs11672130 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SSC5D Met1274Ile M1274I not reviewed Insufficiently evaluated not reviewed unknown Array rs4801331 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF773 Gln12His Q12H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - -1 - 0 N - - CHMP2A Glu170Gly E170G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RAD51AP2 Ser760Ile S760I not reviewed Insufficiently evaluated not reviewed unknown Array 309 9536 0.0324035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.048 - - 5 Y 0 N - - CGREF1 Gly48Arg G48R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF28 Asp161His D161H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHH2 Lys426Arg K426R not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.032 - - -3 - 0 N - - ABCG5 Ala98Gly A98G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10690 0.00159027 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.675 Y - 1 - 2 N - - EPCAM Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array 14 9808 0.00142741 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ADD2 Val523Ile V523I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - ADD2 Val539Ile V539I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SFTPB Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ANKRD36 Trp621Arg W621R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNTNAP5 Thr1195Met T1195M not reviewed Insufficiently evaluated not reviewed unknown Array rs34165507 198 10494 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEB Asp6731Val D6731V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NEB Ser5588Thr S5588T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FMNL2 Pro540Ser P540S not reviewed Insufficiently evaluated not reviewed unknown Array 33 9870 0.00334347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - 3 - 1 N - - C2ORF77 Tyr532Cys Y532C not reviewed Insufficiently evaluated not reviewed unknown Array 215 9536 0.0225461 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALS2CR11 Pro460Ser P460S not reviewed Insufficiently evaluated not reviewed unknown Array 325 10758 0.0302101 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - CDK15 Arg13Gly R13G not reviewed Insufficiently evaluated not reviewed unknown Array rs34776344 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACCN4 Ile391Val I391V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.199 - - -4 - 0 N - - C2ORF57 Val73Ala V73A not reviewed Insufficiently evaluated not reviewed unknown Array rs74460533 567 10758 0.052705 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PER2 Val903Ile V903I not reviewed Insufficiently evaluated not reviewed unknown Array rs35333999 348 10758 0.032348 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.884 - - -4 - 2 N - - RSPO4 His175Pro H175P not reviewed Insufficiently evaluated not reviewed unknown Array rs61740632 193 10022 0.0192576 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - FKBP1A Val99Ile V99I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMC2 Val710Glu V710E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - VPS16 Glu470Lys E470K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS16 Glu614Lys E614K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729230 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.624 - - 0 - 1 N - - PAX1 Gly501Val G501V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.936 - - 8 Y 2 N - - MMP9 Asn38Ser N38S not reviewed Insufficiently evaluated not reviewed unknown Array rs41427445 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNAS Met162Val M162V not reviewed Insufficiently evaluated not reviewed unknown Array 20 9918 0.00201654 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - COL20A1 Val584Leu V584L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIM2 Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array 440 10730 0.0410065 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - GAB4 Trp206Cys W206C not reviewed Insufficiently evaluated not reviewed unknown Array 237 10262 0.0230949 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PRODH Arg323His R323H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - C22ORF43 Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 133 9718 0.0136859 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGL4 Pro470Ser P470S not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - RGL4 Asn472Asp N472D not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - CABIN1 Val2185Met V2185M not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - PLA2G3 Leu428Pro L428P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - TRIOBP Ala322Val A322V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9840 0.000304878 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MGAT3 Glu239Lys E239K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.587 - - 0 - 1 N - - LMF2 Thr479Met T479M not reviewed Insufficiently evaluated not reviewed unknown Array rs8136495 2190 10686 0.204941 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - ARSA Trp109Cys W109C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ARSA Trp193Cys W193C not reviewed Insufficiently evaluated not reviewed unknown Array rs6151415 591 10748 0.054987 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 7 Y 3 N - - ITPR1 Arg330Gln R330Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - ITPR1 Arg345Gln R345Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.21 - Y 0 - 2 N - - SETD5 Arg783His R783H not reviewed Insufficiently evaluated not reviewed unknown Array 3 9560 0.000313807 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - IRAK2 Leu439Val L439V not reviewed Insufficiently evaluated not reviewed unknown Array rs11465927 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAND2 Ser1112Gly S1112G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAND2 Ser1229Gly S1229G not reviewed Insufficiently evaluated not reviewed unknown Array 2 9860 0.000202839 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC22A13 Arg449Trp R449W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF619 Asn228Ser N228S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - ZNF619 Asn272Ser N272S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF619 Asn312Ser N312S not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF77 Gln1185Leu Q1185L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BSN Leu2907Phe L2907F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBA7 Leu625Pro L625P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZMYND10 Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.428 - - 0 - 1 N - - DNAH1 Val1511Met V1511M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734638 222 10574 0.0209949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH1 Asn2384Ser N2384S not reviewed Insufficiently evaluated not reviewed unknown Array rs56002041 883 10298 0.0857448 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DCP1A Leu355Phe L355F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10388 0.000385059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATXN7 Met496Val M496V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ZNF717 Glu762Gln E762Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 120 0.0833333 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NFKBIZ Asn379Ser N379S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFKBIZ Asn479Ser N479S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ALG1L Gly204Ser G204S not reviewed Insufficiently evaluated not reviewed unknown Array rs3187686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLXND1 Val1150Leu V1150L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL6A5 Val756Met V756M not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - NUDT16 Trp196Arg W196R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF55 His82Arg H82R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF55 Ile112Val I112V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC7A14 Val377Ile V377I not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - -4 - 1 N - - IGF2BP2 Pro374Leu P374L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGF2BP2 Pro417Leu P417L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACAP2 Ala613Val A613V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - MUC20 Thr442Met T442M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC20 Thr477Met T477M not reviewed Insufficiently evaluated not reviewed unknown Array rs73203948 456 10318 0.0441946 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF212 Ser246Gly S246G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBTB49 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs4689254 549 10758 0.0510318 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBTB49 Glu609Lys E609K not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR10 Gly367Asp G367D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UGT2B11 Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7688262 1121 10702 0.104747 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FGF5 Tyr104His Y104H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - SEC31A Val1027Ile V1027I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC31A Val1046Ile V1046I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC31A Val1051Ile V1051I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC31A Val1066Ile V1066I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC31A Val952Ile V952I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TET2 Leu1721Trp L1721W not reviewed Insufficiently evaluated not reviewed unknown Array rs34402524 415 3234 0.128324 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.032 - - 5 Y 0 N - - C4ORF21 Ser1110Leu S1110L not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANXA5 Arg245Gln R245Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - FAT4 Trp4183Leu W4183L not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 5 Y 2 N - - FGB Arg419Lys R419K not reviewed Insufficiently evaluated not reviewed unknown Array rs4220 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - RAPGEF2 Lys828Arg K828R not reviewed Insufficiently evaluated not reviewed unknown Array 6 9752 0.000615258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.166 - - -3 - 0 N - - DDX60L Arg641Gln R641Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 9584 0.000626043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - NEK1 Val685Met V685M not reviewed Insufficiently evaluated not reviewed unknown Array 7 9506 0.000736377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG4B Trp84Leu W84L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - ZDHHC11 Val85Ile V85I not reviewed Insufficiently evaluated not reviewed unknown Array 97 10652 0.00910627 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - CLPTM1L Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array rs113203740 130 10746 0.0120975 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DNAH5 Asn751Lys N751K not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PDZD2 Gln2275Arg Q2275R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - MTMR12 Gln675Glu Q675E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - -2 - 1 N - - TAF9 Glu136Gln E136Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TAF9 Glu139Gln E139Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP1B Ala984Glu A984E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD31 Gly1630Glu G1630E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CMYA5 Pro3712Ser P3712S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744879 19 9654 0.0019681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR98 Arg2097Cys R2097C not reviewed Insufficiently evaluated not reviewed unknown Array rs16868974 394 9656 0.0408036 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - GPR98 Glu5203Gly E5203G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10016 0.00019968 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ANKRD32 Lys365Gln K365Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - PCSK1 Asn174Asp N174D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PPIP5K2 Ser419Ala S419A not reviewed Insufficiently evaluated not reviewed unknown Array rs35671301 80 10702 0.00747524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PCDHGA7 Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHGA8 Val671Leu V671L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK10 Glu41Asp E41D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - -2 - 2 N - - ZNF354C Tyr524Cys Y524C not reviewed Insufficiently evaluated not reviewed unknown Array 148 10756 0.0137598 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - HUS1B Ser213Trp S213W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - FAM8A1 Ile400Thr I400T not reviewed Insufficiently evaluated not reviewed unknown Array 8 120 0.0666667 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 1 N - - NRSN1 His104Tyr H104Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11544636 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - GNL1 Glu326Lys E326K not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - ATAT1 Gly278Val G278V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATAT1 Gly301Val G301V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATAT1 Gly313Val G313V not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MDC1 Asp1855Glu D1855E not reviewed Insufficiently evaluated not reviewed unknown Array rs28994874 157 7524 0.0208666 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - MDC1 Val1791Glu V1791E not reviewed Insufficiently evaluated not reviewed unknown Array rs28994873 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 5 Y 0 N - - MDC1 Pro1745Arg P1745R not reviewed Insufficiently evaluated not reviewed unknown Array rs28994871 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - MDC1 Arg1299Gln R1299Q not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDC1 Tyr1266Ser Y1266S not reviewed Insufficiently evaluated not reviewed unknown Array 350 10754 0.032546 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MDC1 Leu1207Pro L1207P not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MDC1 Thr1201Pro T1201P not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MDC1 Ser1112Phe S1112F not reviewed Insufficiently evaluated not reviewed unknown Array rs28987085 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - MDC1 Pro1100Ala P1100A not reviewed Insufficiently evaluated not reviewed unknown Array rs28994869 202 10758 0.0187767 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 2 - 2 N - - DDR1 Asn502Ser N502S not reviewed Insufficiently evaluated not reviewed unknown Array rs55787895 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNXB Lys3015Arg K3015R not reviewed Insufficiently evaluated not reviewed unknown Array rs17207895 121 6854 0.0176539 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - GPSM3 His47Asp H47D not reviewed Insufficiently evaluated not reviewed unknown Array 87 10756 0.00808851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - BTNL2 Asp118Asn D118N not reviewed Insufficiently evaluated not reviewed unknown Array 45 7520 0.00598404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - HLA-DQB1 Ser27Thr S27T not reviewed Insufficiently evaluated not reviewed unknown Array rs1049060 3656 9830 0.371923 7 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - HLA-DQB1 Ala23Ser A23S not reviewed Insufficiently evaluated not reviewed unknown Array rs3891176 1193 9864 0.120945 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - TAP2 Arg651Cys R651C not reviewed Insufficiently evaluated not reviewed unknown Array rs4148876 251 6438 0.0389873 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF132 Pro242Leu P242L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF223 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZUFSP Glu469Gly E469G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SHPRH Ser969Cys S969C not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - RAET1G Arg223Lys R223K not reviewed Insufficiently evaluated not reviewed unknown Array rs4870111 272 10758 0.0252835 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - IYD Phe231Ile F231I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AKAP12 Pro1085Arg P1085R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKAP12 Pro1183Arg P1183R not reviewed Insufficiently evaluated not reviewed unknown Array rs41289375 422 10758 0.0392266 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.558 - - 5 Y 1 N - - RBM16 Ser865Asn S865N not reviewed Insufficiently evaluated not reviewed unknown Array rs34802160 222 10758 0.0206358 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LPA Arg990Gln R990Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41259144 68 10678 0.00636823 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLLT4 Ile438Val I438V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - MICALL2 Ala620Thr A620T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CARD11 Phe902Ser F902S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 5 Y 1 N - - MGC87042 Lys185Glu K185E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGC87042 Lys204Glu K204E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGC87042 Gln29Arg Q29R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGC87042 Gln48Arg Q48R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKBP9 Val314Met V314M not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - URGCP Ala717Ser A717S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - URGCP Ala751Ser A751S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - URGCP Ala760Ser A760S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732518 69 10242 0.00673696 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ZNF92 Asp303Glu D303E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF92 Asp372Glu D372E not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TYW1 His282Arg H282R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 1 - 1 N - - AP4M1 Gly247Ala G247A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 0 N - - AGFG2 Cys39Ser C39S not reviewed Insufficiently evaluated not reviewed unknown Array 270 10224 0.0264085 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - MYL10 Leu59Val L59V not reviewed Insufficiently evaluated not reviewed unknown Array 23 2332 0.00986278 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRGUK Pro399Leu P399L not reviewed Insufficiently evaluated not reviewed unknown Array rs61749957 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CNOT4 Leu283Val L283V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - TAS2R60 Val44Met V44M not reviewed Insufficiently evaluated not reviewed unknown Array rs61750008 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE15P Asn394Asp N394D not reviewed Insufficiently evaluated not reviewed unknown Array 2 40 0.05 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGEF35 His8Arg H8R not reviewed Insufficiently evaluated not reviewed unknown Array rs1731350 17 44 0.386364 8 0 14 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 1 N - - NOBOX Lys547Arg K547R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF212 Glu225Lys E225K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - SSPO Tyr77Cys Y77C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SSPO Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Ala4083Thr A4083T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSPO Ala4326Thr A4326T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM90A20 Cys156Ser C156S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RP1L1 Ala1532Thr A1532T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RP1L1 Gln1321Glu Q1321E not reviewed Insufficiently evaluated not reviewed unknown Array 391 9890 0.0395349 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM160B2 Thr443Ala T443A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1967 Ile298Val I298V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RHOBTB2 Val394Met V394M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - RHOBTB2 Val401Met V401M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHOBTB2 Val416Met V416M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBL1 Thr442Ala T442A not reviewed Insufficiently evaluated not reviewed unknown Array 2 9858 0.00020288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZFHX4 Ile2081Val I2081V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZFHX4 Val3078Gly V3078G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PSKH2 Arg50Ser R50S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 2 N - - CNBD1 Pro2Leu P2L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9932 0.000201369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - PGCP Thr154Ile T154I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTP4A3 Arg144Trp R144W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTP4A3 Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.771 - - 7 Y 1 N - - FLJ43860 Met1143Ile M1143I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLJ43860 Ser200Leu S200L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAPK15 Ala373Pro A373P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10026 0.00199481 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM83H Gly902Glu G902E not reviewed Insufficiently evaluated not reviewed unknown Array 218 9784 0.0222813 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - C8ORF30A Glu264Gln E264Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RECQL4 Cys1020Tyr C1020Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - RECQL4 Arg522His R522H not reviewed Insufficiently evaluated not reviewed unknown Array rs35842750 256 10514 0.0243485 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ZNF7 Arg337His R337H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.562 - - 1 - 1 N - - DOCK8 Arg1054Cys R1054C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOCK8 Arg1086Cys R1086C not reviewed Insufficiently evaluated not reviewed unknown Array rs34390308 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MPDZ Gly782Arg G782R not reviewed Insufficiently evaluated not reviewed unknown Array 30 9876 0.00303767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFNA16 His49Pro H49P not reviewed Insufficiently evaluated not reviewed unknown Array rs41313958 129 10758 0.0119911 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF144B Lys342Asn K342N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMC1 Asp308Ala D308A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - OR13C4 Met117Leu M117L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -3 - 2 N - - OR13C9 Met282Ile M282I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - SVEP1 Ser1846Thr S1846T not reviewed Insufficiently evaluated not reviewed unknown Array 262 9596 0.027303 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.305 - - -2 - 1 N - - RNF183 Asp133His D133H not reviewed Insufficiently evaluated not reviewed unknown Array rs41276789 164 9802 0.0167313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - 3 - 1 N - - AMBP Ile198Thr I198T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR144 Asp123Gly D123G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANGPTL2 Leu170Met L170M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - -3 - 1 N - - PNPLA7 Trp874Ser W874S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA7 Trp899Ser W899S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747535 430 10704 0.0401719 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAI2 Val63Ile V63I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM47B Tyr182His Y182H not reviewed Insufficiently evaluated not reviewed unknown Array 69 8757 0.00787941 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - RPGR Ala781Thr A781T not reviewed Insufficiently evaluated not reviewed unknown Array rs5917557 1063 7645 0.139045 7 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - EFHC2 Asn31Ser N31S not reviewed Insufficiently evaluated not reviewed unknown Array rs17146914 464 7669 0.0605033 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DGKK Ala1069Thr A1069T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD8 Arg1061Gln R1061Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 8757 0.000342583 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STARD8 Arg981Gln R981Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MUM1L1 Gly95Asp G95D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MBNL3 Ile124Val I124V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MBNL3 Ile170Val I170V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPANXC Asp32Tyr D32Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56197524 1 70 0.0142857 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IRAK1 Glu497Gly E497G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRAK1 Glu546Gly E546G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRAK1 Glu576Gly E576G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - OPN1MW Met153Leu M153L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732889 1 68 0.0147059 2 0 4 0 0 - - - - - - - - - - - - Y - - - 0.031 Y Y -3 - 2 N - - OPN1MW2 Met153Leu M153L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AKR1E2 Arg301Stop R301X not reviewed Insufficiently evaluated not reviewed unknown Array rs12240276 1178 10758 0.1095 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - RNF212 Gln188Stop Q188X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CLCNKB Cys457Tyr C457Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - PADI6 Asp330Asn D330N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOCK7 Pro318Leu P318L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.882 - - 7 Y 2 N - - NEXN Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCND3 Asp78His D78H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SEMA4A Ala465Glu A465E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SEMA4A Ala597Glu A597E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 3 - 1 N - - FCAMR Thr502Ala T502A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TP53BP2 Gln385His Q385H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TP53BP2 Gln514His Q514H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DISC1 Leu485Phe L485F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DISC1 Leu639Phe L639F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - OR2T3 Ala214Thr A214T not reviewed Insufficiently evaluated not reviewed unknown Array rs1770109 206 10550 0.0195261 7 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CUBN Leu2879Ile L2879I not reviewed Insufficiently evaluated not reviewed unknown Array rs45474496 292 10758 0.0271426 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MYO3A Ala1032Thr A1032T not reviewed Insufficiently evaluated not reviewed unknown Array rs34918608 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.108 Y - 1 - 1 N - - ZNF25 Asn453Lys N453K not reviewed Insufficiently evaluated not reviewed unknown Array rs1208606 705 10758 0.0655326 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF33A Asp804His D804H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF33A Asp805His D805H not reviewed Insufficiently evaluated not reviewed unknown Array rs10508862 700 10756 0.06508 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - WDFY4 Ile1568Val I1568V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANK3 Phe2852Ser F2852S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1274 Thr517Met T517M not reviewed Insufficiently evaluated not reviewed unknown Array 123 10756 0.0114355 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - P4HA1 Asp124Val D124V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZMYND17 Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - USP54 Gly1514Ala G1514A not reviewed Insufficiently evaluated not reviewed unknown Array rs61761603 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 2 N - - MYST4 Pro490Ser P490S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - CDHR1 Asn623Ser N623S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 0 - 1 N - - SORBS1 Gly143Val G143V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SORBS1 Gly175Val G175V not reviewed Insufficiently evaluated not reviewed unknown Array rs7081076 391 10758 0.036345 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP19 Gln305Arg Q305R not reviewed Insufficiently evaluated not reviewed unknown Array rs17112598 66 10758 0.00613497 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ZFYVE27 Val82Ile V82I not reviewed Insufficiently evaluated not reviewed unknown Array rs17108378 345 10758 0.0320692 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HPS1 Arg263Trp R263W benign Low clinical importance, Uncertain benign unknown Array 6 10758 0.000557724 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.914 Y Y 7 Y 4 N 0 0 Rare, tentatively evaluated as benign. Polyphen 2 predicts a damaging effect and other variants in this gene cause Hermansky-Pudlak Syndrome in a recessive manner, but these are generally more serious mutations (nonsense or frameshift). LOC729020 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDZD8 Asn929Thr N929T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - GRK5 Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array rs55980792 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - MKI67 Gly216Glu G216E not reviewed Insufficiently evaluated not reviewed unknown Array rs41306648 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - MUC2 Pro2018Thr P2018T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MMP26 Ser46Leu S46L not reviewed Insufficiently evaluated not reviewed unknown Array rs35365239 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - UBQLNL Arg230Gly R230G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR52N4 Met41Ile M41I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10250 0.00546341 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - OLFML1 Thr26Ala T26A not reviewed Insufficiently evaluated not reviewed unknown Array 550 10758 0.0511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EIF3F Pro12Leu P12L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734576 304 9476 0.032081 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICALCL Arg671Cys R671C not reviewed Insufficiently evaluated not reviewed unknown Array rs34898047 112 9966 0.0112382 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MRGPRX1 Phe273Leu F273L not reviewed Insufficiently evaluated not reviewed unknown Array 184 10740 0.0171322 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - NAV2 Thr447Met T447M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NAV2 Thr511Met T511M not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC100500938 Val13Ile V13I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGR4 Ala130Ser A130S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCDC5 Glu481Lys E481K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IMMP1L Glu116Gln E116Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - FBXO3 Val221Ile V221I not reviewed Insufficiently evaluated not reviewed unknown Array rs1402954 772 10758 0.0717606 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - RAG1 Arg449Lys R449K not reviewed Insufficiently evaluated not reviewed unknown Array rs4151031 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.302 Y - -3 - 2 N - - RAG2 Phe386Leu F386L not reviewed Insufficiently evaluated not reviewed unknown Array rs34629171 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 N - - NUP160 Pro635Leu P635L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A8 Ile67Thr I67T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A8 Ile99Thr I99T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAU Thr53Ile T53I not reviewed Insufficiently evaluated not reviewed unknown Array rs13807 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - SYVN1 Pro457Thr P457T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYVN1 Pro458Thr P458T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAP3K11 Arg730His R730H not reviewed Insufficiently evaluated not reviewed unknown Array rs35487354 110 10604 0.0103734 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.91 - - 1 - 2 N - - PACS1 Ala717Thr A717T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - 1 - 1 N - - CCDC81 Gln461His Q461H not reviewed Insufficiently evaluated not reviewed unknown Array rs34331151 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC81 Gln551His Q551H not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - TRIM49 Val383Ile V383I not reviewed Insufficiently evaluated not reviewed unknown Array rs570208 10 106 0.0943396 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.353 - - -4 - 0 N - - TRIM49 Ala375Glu A375E not reviewed Insufficiently evaluated not reviewed unknown Array rs570297 96 10614 0.00904466 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1731 Glu179Lys E179K not reviewed Insufficiently evaluated not reviewed unknown Array rs62622500 50 3232 0.0154703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CWF19L2 His445Gln H445Q not reviewed Insufficiently evaluated not reviewed unknown Array 192 10758 0.0178472 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALG9 His455Tyr H455Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ALG9 His462Tyr H462Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NLRX1 Ala726Thr A726T not reviewed Insufficiently evaluated not reviewed unknown Array rs45450295 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORL1 Gly1258Ser G1258S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - OR8G2 Asn299His N299H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A13 Val334Ile V334I not reviewed Insufficiently evaluated not reviewed unknown Array rs577294 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KDM5A Ser1066Cys S1066C not reviewed Insufficiently evaluated not reviewed unknown Array 5 9932 0.000503423 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRH1 Pro165Thr P165T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAS2R46 Thr232Ile T232I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R46 Ala227Val A227V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - ABCC9 Val698Ile V698I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ABCC9 Val734Ile V734I benign Low clinical importance, Likely benign unknown Array rs61688134 91 10746 0.00846827 1 0 1 0 0 - - - - 5 Y 0 Y - - - - Y - - - - Y Y -4 - 3 N 0 1 Reported as a likely cause of myocardial infarction, as recorded in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000029274/). LabCorp's ClinVar submission cites Zimmerman et al (PMID: 20474083); Zimmerman et al in turn cite Minoretti et al 2006 (PMID: 16563363) as reporting increased risk of myocardial infarction (heart attack) for this variant. There seem to be no subsequent publications confirming this effect; even if true, it should be classified as a "risk factor" in ClinVar (rather than "pathogenic" or "likely pathogenic"). OVCH1 Lys1029Arg K1029R not reviewed Insufficiently evaluated not reviewed unknown Array 566 9558 0.0592174 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.345 - - -3 - 0 N - - C12ORF41 Asn313Ser N313S not reviewed Insufficiently evaluated not reviewed unknown Array rs17238800 183 10012 0.0182781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL2 Pro1295Ser P1295S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - TENC1 Gln814His Q814H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TENC1 Gln938His Q938H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - TENC1 Gln948His Q948H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGA7 Arg182His R182H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGA7 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGA7 Arg279His R279H not reviewed Insufficiently evaluated not reviewed unknown Array rs74867235 389 10758 0.0361591 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - BEST3 Gln152Pro Q152P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BEST3 Gln365Pro Q365P not reviewed Insufficiently evaluated not reviewed unknown Array rs61928092 73 9888 0.00738269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 4 Y 0 N - - PTPRB Pro1453Leu P1453L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRB Pro1671Leu P1671L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRR Tyr1320Cys Y1320C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DRAM1 Trp151Gly W151G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.811 - - 7 Y 1 N - - STAB2 Pro2170Ser P2170S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.797 - - 3 - 1 N - - ACACB Arg1818Trp R1818W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAA25 Leu915Ile L915I not reviewed Insufficiently evaluated not reviewed unknown Array rs12298022 1487 10758 0.138223 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - KNTC1 Leu317Phe L317F not reviewed Insufficiently evaluated not reviewed unknown Array rs61751321 19 9360 0.00202991 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - ATP6V0A2 Val420Leu V420L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ZNF664 Val58Gly V58G not reviewed Insufficiently evaluated not reviewed unknown Array 859 10758 0.0798476 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - GPR133 Ser523Leu S523L not reviewed Insufficiently evaluated not reviewed unknown Array rs11061318 238 10758 0.0221231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - DDX51 Arg615Lys R615K not reviewed Insufficiently evaluated not reviewed unknown Array 168 9974 0.0168438 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - ZNF84 Ile194Met I194M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 0 N - - GJA3 Thr56Ile T56I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 3 - 2 N - - SPATA13 Arg645Trp R645W not reviewed Insufficiently evaluated not reviewed unknown Array 367 10758 0.0341141 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PABPC3 Gln172Arg Q172R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PABPC3 Glu178Lys E178K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PABPC3 Thr539Pro T539P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PABPC3 Arg544Met R544M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C13ORF26 Lys231Asn K231N not reviewed Insufficiently evaluated not reviewed unknown Array rs9533168 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ELF1 Asn411Lys N411K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ELF1 Asn435Lys N435K not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1704 Pro197Arg P197R not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - C13ORF40 Met3495Ile M3495I not reviewed Insufficiently evaluated not reviewed unknown Array rs12585626 150 3232 0.0464109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C13ORF40 Gln1887Pro Q1887P not reviewed Insufficiently evaluated not reviewed unknown Array rs7339187 127 3232 0.0392946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO16 Val533Met V533M not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARS2 Thr188Met T188M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - ARHGEF7 Ser126Cys S126C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGEF7 Ser155Cys S155C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGEF7 Ser176Cys S176C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - MDGA2 Val677Phe V677F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF38 Pro781Gln P781Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTLL5 Val570Met V570M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - AHNAK2 Met3260Thr M3260T not reviewed Insufficiently evaluated not reviewed unknown Array rs28714612 3067 9462 0.324139 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 0 N - - AHNAK2 Asn3188Thr N3188T not reviewed Insufficiently evaluated not reviewed unknown Array 713 9394 0.0758995 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AHNAK2 Asn2143Asp N2143D not reviewed Insufficiently evaluated not reviewed unknown Array 285 8478 0.0336164 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - WFIKKN1 Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 137 10532 0.013008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITPRIPL2 Arg308His R308H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PRRT2 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array 60 10648 0.00563486 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - ZFHX3 Lys2506Arg K2506R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KLHDC4 Gly73Val G73V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRDM7 Leu330Pro L330P not reviewed Insufficiently evaluated not reviewed unknown Array 450 9772 0.0460499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GGT6 Leu35Pro L35P not reviewed Insufficiently evaluated not reviewed unknown Array rs62066362 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - GGT6 Ala34Val A34V not reviewed Insufficiently evaluated not reviewed unknown Array rs62066363 161 10758 0.0149656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KCNJ18 Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNJ18 Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NF1 Gly2000Arg G2000R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NF1 Gly2021Arg G2021R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.551 Y Y 6 Y 3 N - - GSDMB Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GSDMB Asp288Asn D288N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MED13 Ser859Ile S859I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAH17 Val734Ile V734I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.114 - - -4 - 0 N - - CEP192 Ser2051Asn S2051N not reviewed Insufficiently evaluated not reviewed unknown Array 456 10756 0.0423949 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP192 Lys2271Glu K2271E not reviewed Insufficiently evaluated not reviewed unknown Array 459 10758 0.0426659 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCEB3B His9Arg H9R not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.472 - - 1 - 1 N - - DNMT1 Phe1187Leu F1187L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - DNMT1 Phe1203Leu F1203L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIPA1L3 Met381Thr M381T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729133 168 10728 0.01566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - C19ORF33 Glu103Lys E103K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5SL His29Arg H29R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPL13A Ala154Asp A154D not reviewed Insufficiently evaluated not reviewed unknown Array rs11542196 56 7264 0.00770925 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TSKS Ser279Phe S279F not reviewed Insufficiently evaluated not reviewed unknown Array 21 10666 0.00196887 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - HERV-V2 Arg441Lys R441K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PXDN Asn979Lys N979K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TAF1B Pro272Ser P272S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - FAM82A1 Asn200Ser N200S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM82A1 Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.642 - - 0 - 1 N - - TEKT4 Val17Met V17M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10620 9.4161e-05 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.769 - - 0 - 1 N - - TEKT4 Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TEKT4 Gln329Glu Q329E not reviewed Insufficiently evaluated not reviewed unknown Array 14 28 0.5 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.384 - - -2 - 0 N - - TEKT4 Ala336Glu A336E not reviewed Insufficiently evaluated not reviewed unknown Array 7 36 0.194444 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.418 - - 3 - 0 N - - TEKT4 Val340Ile V340I not reviewed Insufficiently evaluated not reviewed unknown Array 7 84 0.0833333 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.661 - - -4 - 0 N - - TEKT4 Glu355Gln E355Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 34 0.205882 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.961 - - -2 - 1 N - - TEKT4 Asp359Glu D359E not reviewed Insufficiently evaluated not reviewed unknown Array 6 46 0.130435 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 1 N - - DCAF17 Tyr409His Y409H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCAF17 Tyr476His Y476H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.511 - - -1 - 1 N - - SCRN3 Ser318Ile S318I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTN Arg24857Thr R24857T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg24982Thr R24982T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg25049Thr R25049T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg31354Thr R31354T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CCDC141 Arg935Trp R935W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSIP2 Asp1091His D1091H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSIP2 Pro2853Thr P2853T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FSIP2 Pro6618Thr P6618T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CASP8 His302Arg H302R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CASP8 His317Arg H317R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - CASP8 His334Arg H334R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CASP8 His376Arg H376R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SP140 Arg401Pro R401P not reviewed Insufficiently evaluated not reviewed unknown Array 95 9734 0.0097596 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DIS3L2 Pro88Leu P88L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9358 0.0010686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - RALGAPA2 Glu189Gly E189G not reviewed Insufficiently evaluated not reviewed unknown Array rs61761203 76 9514 0.00798823 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CCT8 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 130 10756 0.0120863 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - IGLL5 Thr211Ala T211A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARPP21 Met269Ile M269I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - ITIH1 His593Arg H593R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITIH1 His739Arg H739R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SKIL Lys626Arg K626R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SKIL Lys652Arg K652R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SKIL Lys672Arg K672R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - LMLN Thr54Pro T54P not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 4 Y 0 N - - LARP7 Ile334Thr I334T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10272 0.000778816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - MAST4 Ser2251Thr S2251T not reviewed Insufficiently evaluated not reviewed unknown Array rs3188121 206 9988 0.0206247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAST4 Ser2440Thr S2440T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAIP Leu696Pro L696P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAIP Leu697Pro L697P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD31 Thr173Ala T173A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHA10 Val509Met V509M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCOF1 Ala241Gly A241G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TCOF1 Ala318Gly A318G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PECI Pro209Thr P209T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VARS2 Ala825Thr A825T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VARS2 Ala995Thr A995T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF132 Ser260Ala S260A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SMPDL3A Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNJ2 Asp704Val D704V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABCB5 Arg486Gln R486Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC12 Pro4893Ser P4893S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RASA4 Met352Val M352V not reviewed Insufficiently evaluated not reviewed unknown Array rs746316 1588 10178 0.156023 12 0 22 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - KIAA1549 Arg1602His R1602H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD1 Pro1780Ala P1780A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD1 Ser1179Ala S1179A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RP1L1 Glu1866Asp E1866D not reviewed Insufficiently evaluated not reviewed unknown Array 174 9766 0.0178169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC7A13 Leu330Phe L330F not reviewed Insufficiently evaluated not reviewed unknown Array rs72688509 244 10758 0.0226808 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - LOC100127983 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLEC Ala3002Val A3002V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala3012Val A3012V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala3020Val A3020V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala3034Val A3034V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala3038Val A3038V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala3061Val A3061V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala3171Val A3171V not reviewed Insufficiently evaluated not reviewed unknown Array rs35858667 524 10342 0.0506672 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C9ORF68 Arg185Gly R185G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9538 0.000314531 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TJP2 Gln105Lys Q105K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TJP2 Gln132Lys Q132K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - TJP2 Gln159Lys Q159K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FAM75D3 Glu791Asp E791D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL5A1 Pro1379Ser P1379S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739195 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - C9ORF86 Cys491Ser C491S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF86 Cys492Ser C492S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM104B Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM104B Asp73Asn D73N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM104B Asp74Asn D74N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MED12 Gly2037Cys G2037C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TEX13A Glu179Val E179V not reviewed Insufficiently evaluated not reviewed unknown Array rs41312550 64 8411 0.00760908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RIPPLY1 Asn74Ser N74S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HCFC1 Gly824Ser G824S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 2 - 0 N - - MYBPC3 Gln1000Stop Q1000X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - SLC37A4 Gln353Stop Q353X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - SLC37A4 Gln448Stop Q448X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - C14ORF169 Trp595Stop W595X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ECEL1 Arg333Stop R333X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POPDC2 Trp214Stop W214X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NUDT16 Trp196Stop W196X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CC2D2A Arg88Stop R88X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 557 9730 0.0572456 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - TLR10 Gln356Stop Q356X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USP42 Ser809Stop S809X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCB5 Gln1195Stop Q1195X not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SSPO Cys398Stop C398X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - INSIG1 Trp128Stop W128X not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SAMD11 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array 121 10658 0.011353 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TNFRSF18 Lys226Asn K226N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFRSF18 Lys233Asn K233N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10570 0.000662251 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - TNFRSF18 Arg163Thr R163T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PUSL1 Arg218Gln R218Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ATAD3B Ala574Val A574V not reviewed Insufficiently evaluated not reviewed unknown Array 269 10748 0.0250279 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATAD3B Gly620Glu G620E not reviewed Insufficiently evaluated not reviewed unknown Array 239 10752 0.0222284 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDK11A Val645Ala V645A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDK11A Val655Ala V655A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM16 Pro937Ala P937A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.493 - - 2 - 1 N - - TMEM201 Pro547His P547H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.902 - - 5 Y 2 N - - PEX14 Arg320Lys R320K not reviewed Insufficiently evaluated not reviewed unknown Array rs12070353 116 10732 0.0108088 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -3 - 2 N - - C1ORF127 Ala697Val A697V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF127 Val533Asp V533D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF127 Arg423Gln R423Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF187 Arg60Trp R60W not reviewed Insufficiently evaluated not reviewed unknown Array 40 10578 0.00378143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLOD1 His473Gln H473Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.264 Y Y -1 - 3 N - - TCEB3 Arg279His R279H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - UBXN11 Gly372Ser G372S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBXN11 Gly459Ser G459S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBXN11 Gly492Ser G492S not reviewed Insufficiently evaluated not reviewed unknown Array rs1134581 585 9270 0.0631068 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AIM1L Glu1454Gln E1454Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IQCC Pro464Leu P464L not reviewed Insufficiently evaluated not reviewed unknown Array rs41306593 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - IQCC Pro544Leu P544L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10754 0.00437047 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM54 Leu110Phe L110F not reviewed Insufficiently evaluated not reviewed unknown Array rs10914632 200 10664 0.0187547 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - CLSPN Ser1216Leu S1216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLDN19 Arg186Cys R186C not reviewed Insufficiently evaluated not reviewed unknown Array rs4660658 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - MAST2 Asp1551Gly D1551G not reviewed Insufficiently evaluated not reviewed unknown Array rs1052610 834 9924 0.0840387 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 1 N - - L1TD1 Val365Ile V365I not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CACHD1 Thr547Ile T547I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK4 Cys22Ser C22S not reviewed Insufficiently evaluated not reviewed unknown Array rs17853973 1205 10008 0.120404 16 0 21 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - LHX8 Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array 102 10748 0.00949014 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.345 - - 2 - 1 N - - MCOLN2 Arg319Trp R319W not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AMY2A Thr99Asn T99N not reviewed Insufficiently evaluated not reviewed unknown Array 118 10708 0.0110198 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - AKNAD1 Gly582Val G582V not reviewed Insufficiently evaluated not reviewed unknown Array rs12060255 1469 10758 0.13655 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.689 - - 8 Y 0 N - - CD101 Arg933Gln R933Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12093834 278 10758 0.0258412 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - TBX15 Asp15Gly D15G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE4DIP Ala1709Ser A1709S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10750 0.00493023 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - PDE4DIP Pro302Ala P302A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Tyr563Ser Y563S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF68 Gln59Arg Q59R not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR9 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - S100A5 Tyr19Phe Y19F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - HCN3 Val461Met V461M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - YY1AP1 Leu57Phe L57F not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - TTC24 Asn550Ser N550S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6K3 Asp263Asn D263N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6K3 Gln143His Q143H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAGLN2 Gln46Leu Q46L not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.537 - - 5 Y 1 N - - PEX19 Val276Ala V276A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ADCY10 Pro1200Leu P1200L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEP350 Arg892Thr R892T not reviewed Insufficiently evaluated not reviewed unknown Array rs6692219 419 10758 0.0389478 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - CACNA1E Arg863Gln R863Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 9886 0.00465304 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.085 - - 0 - 0 N - - NCF2 Val216Ala V216A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - NCF2 Val252Ala V252A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.288 Y - 2 - 2 N - - CRB1 His1087Arg H1087R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - IGFN1 Arg543Gly R543G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGFN1 Gly897Val G897V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.897 - - 8 Y 2 N - - IGFN1 Met1316Thr M1316T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGFN1 Pro2476Ser P2476S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTSE Asn318Ser N318S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTSE Thr271Ala T271A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR1 Leu1097Pro L1097P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR1 Leu1547Pro L1547P not reviewed Insufficiently evaluated not reviewed unknown Array 14 9750 0.0014359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR1 Arg1100Gly R1100G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR1 Arg1550Gly R1550G not reviewed Insufficiently evaluated not reviewed unknown Array 19 9768 0.00194513 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR1L Tyr179Cys Y179C not reviewed Insufficiently evaluated not reviewed unknown Array 61 9814 0.00621561 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CR1L Ala221Val A221V not reviewed Insufficiently evaluated not reviewed unknown Array 220 9764 0.0225317 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.504 - - 2 - 1 N - - IARS2 Glu1007Gln E1007Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - OBSCN Gly2789Arg G2789R not reviewed Insufficiently evaluated not reviewed unknown Array 167 10222 0.0163373 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - RYR2 Arg298Cys R298C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - WDR64 Ile1029Met I1029M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - CEP170 Asn826Lys N826K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP170 Asn924Lys N924K not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - OR2W3 Cys169Ser C169S not reviewed Insufficiently evaluated not reviewed unknown Array rs12083024 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OR2W3 Val199Ile V199I not reviewed Insufficiently evaluated not reviewed unknown Array rs61756679 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR2T8 Thr277Ser T277S not reviewed Insufficiently evaluated not reviewed unknown Array 12 116 0.103448 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - OR2M5 Ile207Leu I207L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR2M5 Ala216Thr A216T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF692 Pro185Arg P185R not reviewed Insufficiently evaluated not reviewed unknown Array rs13313088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - PITRM1 Tyr388Cys Y388C not reviewed Insufficiently evaluated not reviewed unknown Array 14 9750 0.0014359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 6 Y 1 N - - AKR1E2 Pro110Arg P110R not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - GATA3 Asn52Ser N52S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - NEBL Arg694Trp R694W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - ANKRD30A Ala64Val A64V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9534 0.000104887 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD30A Asn475Lys N475K not reviewed Insufficiently evaluated not reviewed unknown Array 103 9448 0.0109018 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASSF4 Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.754 - - 1 - 1 N - - SYT15 Glu254Lys E254K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10402 0.000480676 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 0 - 1 N - - PARG Ile887Leu I887L not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PCDH15 Gly1746Ser G1746S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL13A1 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array 101 9510 0.0106204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 1 - 1 N - - SLC29A3 Tyr102His Y102H not reviewed Insufficiently evaluated not reviewed unknown Array 233 10758 0.0216583 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CDH23 Cys508Phe C508F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - IFIT1B Gly180Arg G180R not reviewed Insufficiently evaluated not reviewed unknown Array rs73369750 449 10758 0.0417364 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - PLCE1 Pro1582Leu P1582L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CALHM1 Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array 100 10720 0.00932836 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF81 Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF81 Gly29Asp G29D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF81 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF81 Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF81 Val241Ile V241I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF81 Val323Ile V323I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF81 Thr301Ile T301I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF81 Thr383Ile T383I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNLIPRP2 Glu251Asp E251D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DMBT1 Arg1232Leu R1232L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DMBT1 Arg1850Leu R1850L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DMBT1 Arg1860Leu R1860L not reviewed Insufficiently evaluated not reviewed unknown Array rs7099177 67 9734 0.00688309 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - HMX3 Ala326Thr A326T not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAM8 Ser274Arg S274R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAM8 Ser313Arg S313R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP6 Arg809Trp R809W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.699 - - 7 Y 1 N - - TMEM80 Ala48Thr A48T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM80 Ala56Thr A56T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Arg1403Gln R1403Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5B Ala2061Gly A2061G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Met2869Thr M2869T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Met3122Thr M3122T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC22A18AS Gly158Glu G158E not reviewed Insufficiently evaluated not reviewed unknown Array 47 3234 0.0145331 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM66 Ile205Thr I205T not reviewed Insufficiently evaluated not reviewed unknown Array 50 3234 0.0154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MICAL2 Pro1110Ser P1110S not reviewed Insufficiently evaluated not reviewed unknown Array rs35518829 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 2 N - - RASSF10 Gln194His Q194H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.84 - - -1 - 1 N - - USH1C Arg620Leu R620L not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - IGSF22 Arg653Cys R653C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10722 0.000839395 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - DBX1 Ser239Cys S239C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - DCDC5 Cys239Arg C239R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABTB2 His250Gln H250Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - ACCSL Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs3094398 135 9928 0.0135979 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.977 - - -1 - 2 N - - ZNF408 Leu59Val L59V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4C13 Val115Ile V115I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - -4 - 0 N - - OR5M1 Val124Gly V124G not reviewed Insufficiently evaluated not reviewed unknown Array 44 10098 0.0043573 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - CTNND1 Arg787Lys R787K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTNND1 Arg808Lys R808K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTNND1 Arg814Lys R814K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.927 - - -3 - 2 N - - CTNND1 Arg888Lys R888K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTNND1 Arg909Lys R909K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTNND1 Arg915Lys R915K not reviewed Insufficiently evaluated not reviewed unknown Array rs11570222 498 9622 0.0517564 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.742 - - -3 - 0 N - - OR1S2 Ser161Leu S161L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - FAM111A Leu104Ile L104I not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - CCDC86 Gln168Pro Q168P not reviewed Insufficiently evaluated not reviewed unknown Array 49 10750 0.00455814 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BEST1 Ala541Ser A541S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - AHNAK Leu3907Val L3907V not reviewed Insufficiently evaluated not reviewed unknown Array rs499333 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BSCL2 Asp20Glu D20E not reviewed Insufficiently evaluated not reviewed unknown Array 93 3234 0.028757 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SLC22A24 Val121Leu V121L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VEGFB Arg148His R148H not reviewed Insufficiently evaluated not reviewed unknown Array 49 10746 0.00455984 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - KCNK4 Leu146Pro L146P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - SLC22A11 Val155Met V155M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744144 115 10758 0.0106897 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - MAP4K2 Arg677His R677H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10658 9.3826e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ATG2A Arg1621Cys R1621C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740228 600 10738 0.0558763 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.465 - - 8 Y 0 N - - ATG2A Val1611Leu V1611L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EHBP1L1 Val78Met V78M not reviewed Insufficiently evaluated not reviewed unknown Array 163 10190 0.0159961 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - MUS81 Asn390His N390H not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C11ORF80 Leu274Val L274V not reviewed Insufficiently evaluated not reviewed unknown Array 128 9956 0.0128566 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF80 Ile387Thr I387T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CARNS1 Pro137Thr P137T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CARNS1 Pro14Thr P14T not reviewed Insufficiently evaluated not reviewed unknown Array rs868167 1227 9834 0.124771 15 0 21 0 0 - - - - - - - - - - - - - - - - 0.658 - - 4 Y 0 N - - TCIRG1 Pro356Leu P356L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TCIRG1 Pro572Leu P572L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - PPP6R3 Leu784Ile L784I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL18BP Ala60Ser A60S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10334 0.000483839 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO7A Val679Ile V679I not reviewed Insufficiently evaluated not reviewed unknown Array rs35641839 191 10138 0.01884 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.035 Y Y -4 - 2 N - - MYO7A Ser1530Leu S1530L not reviewed Insufficiently evaluated not reviewed unknown Array 47 3234 0.0145331 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NARS2 Arg9Pro R9P not reviewed Insufficiently evaluated not reviewed unknown Array 154 10756 0.0143176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - HEPHL1 Glu1022Lys E1022K not reviewed Insufficiently evaluated not reviewed unknown Array 58 10030 0.00578265 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM4DL Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array 34 3234 0.0105133 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAML2 Arg241Gln R241Q not reviewed Insufficiently evaluated not reviewed unknown Array 159 9882 0.0160899 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP1 Lys37Gln K37Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17103567 6 10758 0.000557724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZC3H12C Ala786Thr A786T not reviewed Insufficiently evaluated not reviewed unknown Array 17 9944 0.00170957 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANKK1 Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array 321 10084 0.0318326 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.822 - - 0 - 1 N - - SIK3 Ala992Thr A992T not reviewed Insufficiently evaluated not reviewed unknown Array rs56247967 199 10758 0.0184979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIK3 Arg984Cys R984C not reviewed Insufficiently evaluated not reviewed unknown Array rs61738656 327 10758 0.030396 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FXYD2 Gly10Ser G10S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FXYD2 Gly8Ser G8S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TMPRSS4 Arg137Gln R137Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS4 Arg175Gln R175Q not reviewed Insufficiently evaluated not reviewed unknown Array 383 10758 0.0356014 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS4 Lys158Glu K158E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS4 Lys196Glu K196E not reviewed Insufficiently evaluated not reviewed unknown Array 824 10758 0.0765942 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR10G7 Thr277Met T277M not reviewed Insufficiently evaluated not reviewed unknown Array 372 10756 0.0345853 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ROBO4 Cys757Ser C757S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10744 0.00158228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP32 Ser1251Phe S1251F not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP32 Ser902Phe S902F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC6A13 Arg485Gln R485Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWF Ile1380Val I1380V not reviewed Insufficiently evaluated not reviewed unknown Array rs11063988 384 10758 0.0356944 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - NANOGNB Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array rs12818448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PZP Thr254Ile T254I not reviewed Insufficiently evaluated not reviewed unknown Array rs35213971 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC2A Glu139Gln E139Q not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLRC3 Arg112Leu R112L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TAS2R43 Thr306Pro T306P not reviewed Insufficiently evaluated not reviewed unknown Array 1087 9234 0.117717 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PLEKHA5 Gly981Val G981V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GYS2 Ala193Thr A193T not reviewed Insufficiently evaluated not reviewed unknown Array rs16924038 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - OVCH1 Gly754Arg G754R not reviewed Insufficiently evaluated not reviewed unknown Array rs12305672 408 9794 0.0416582 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - ALG10B Leu306Val L306V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10754 0.00139483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 0 N - - FAM113B Arg10Gln R10Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.338 - - 0 - 1 N - - VDR Arg358His R358H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 1 - 1 N - - FAM186A Trp2314Arg W2314R not reviewed Insufficiently evaluated not reviewed unknown Array 26 3234 0.00803958 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAZAP2 Asn145Asp N145D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD33 Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 7 Y 2 N - - KRT86 Arg327Cys R327C not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.272 Y - 8 Y 2 N - - KRT83 Gly362Ser G362S not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TARBP2 His287Arg H287R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TARBP2 His308Arg H308R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HOXC12 Gly178Ser G178S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 2 - 2 N - - SLC39A5 Arg243Gln R243Q not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDIT3 Arg170His R170H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDIT3 Phe16Ser F16S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIF5A Glu492Asp E492D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - -2 - 3 N - - ARHGEF25 Thr45Ala T45A not reviewed Insufficiently evaluated not reviewed unknown Array 28 7820 0.00358056 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OS9 Thr5Arg T5R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - C12ORF64 Tyr1033Cys Y1033C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POC1B Ser478Ile S478I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FGD6 Arg560Gln R560Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.922 - - 0 - 2 N - - GOLGA2B Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array rs12370675 682 10758 0.0633947 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C12ORF48 Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF48 Gln217Lys Q217K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP30 Glu7Lys E7K not reviewed Insufficiently evaluated not reviewed unknown Array 71 8726 0.0081366 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CUX2 Ala757Val A757V not reviewed Insufficiently evaluated not reviewed unknown Array 93 8684 0.0107093 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VSIG10 Val333Met V333M not reviewed Insufficiently evaluated not reviewed unknown Array rs9668527 312 9896 0.0315279 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - VSIG10 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs73410799 123 10446 0.0117748 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - SETD1B Arg1025Gln R1025Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM132C Val232Met V232M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ULK1 Pro577Leu P577L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LOC645277 Thr7Met T7M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC122 Glu273Lys E273K not reviewed Insufficiently evaluated not reviewed unknown Array 431 9608 0.0448585 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - SERPINE3 Gly172Arg G172R not reviewed Insufficiently evaluated not reviewed unknown Array 90 9854 0.00913335 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.131 - - 6 Y 0 N - - GPC5 Gln467Arg Q467R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FARP1 Arg902Cys R902C not reviewed Insufficiently evaluated not reviewed unknown Array rs61749894 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - OR4N2 Lys50Arg K50R not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KLHL33 Pro221Thr P221T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPGRIP1 Leu1256Val L1256V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MMP14 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs17882219 96 10752 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFHX2 Val1545Ala V1545A not reviewed Insufficiently evaluated not reviewed unknown Array rs4982766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFHX2 Val1005Met V1005M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFHX2 Asp712Asn D712N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DHRS4 Arg26His R26H not reviewed Insufficiently evaluated not reviewed unknown Array rs61750885 312 10752 0.0290179 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHRS4L2 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHRS4L2 Ala49Thr A49T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - REC8 Arg300Leu R300L not reviewed Insufficiently evaluated not reviewed unknown Array 79 9636 0.00819842 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - TSSK4 Gln206Arg Q206R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR5A Ala1653Thr A1653T not reviewed Insufficiently evaluated not reviewed unknown Array 66 9584 0.00688648 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INSM2 Pro414Ser P414S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735254 99 10660 0.00928705 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATG14 Val59Ile V59I not reviewed Insufficiently evaluated not reviewed unknown Array rs57295720 414 10728 0.0385906 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - NAA30 Glu177Gln E177Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - -2 - 0 N - - C14ORF38 Asn673Ser N673S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEK2 Asp216Glu D216E not reviewed Insufficiently evaluated not reviewed unknown Array rs58627213 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.943 - - -2 - 2 N - - PAPLN Ser401Asn S401N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10746 0.00158198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0284 Ser622Phe S622F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0284 Ser692Phe S692F not reviewed Insufficiently evaluated not reviewed unknown Array rs62641737 265 9762 0.0271461 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - AHNAK2 Ser3687Gly S3687G not reviewed Insufficiently evaluated not reviewed unknown Array 28 9768 0.0028665 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - 2 - 1 N - - AHNAK2 Val3209Leu V3209L not reviewed Insufficiently evaluated not reviewed unknown Array 704 9276 0.0758948 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - AHNAK2 Leu2416Arg L2416R not reviewed Insufficiently evaluated not reviewed unknown Array 21 9582 0.00219161 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 6 Y 1 N - - AHNAK2 Ala1931Pro A1931P not reviewed Insufficiently evaluated not reviewed unknown Array 9 9640 0.000933609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GABRA5 Val204Ile V204I not reviewed Insufficiently evaluated not reviewed unknown Array 84 10080 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RYR3 Ile432Ser I432S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10090 0.00505451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 5 Y 0 N - - RYR3 Val2986Ile V2986I not reviewed Insufficiently evaluated not reviewed unknown Array 11 9818 0.00112039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - -4 - 2 N - - RASGRP1 Leu164Ile L164I not reviewed Insufficiently evaluated not reviewed unknown Array 122 9950 0.0122613 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C15ORF52 Ala207Val A207V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10162 0.000984058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP1A Arg2480Cys R2480C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - PATL2 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUOX2 Arg1213Cys R1213C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - LDHAL6B Pro259Ser P259S not reviewed Insufficiently evaluated not reviewed unknown Array rs35212259 102 10758 0.00948132 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLN2 Ala1148Thr A1148T not reviewed Insufficiently evaluated not reviewed unknown Array rs2280279 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGDCC4 Glu251Asp E251D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - PTPLAD1 Met269Leu M269L not reviewed Insufficiently evaluated not reviewed unknown Array rs2279854 668 9932 0.0672574 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.845 - - -3 - 0 N - - SLC24A1 Val311Leu V311L not reviewed Insufficiently evaluated not reviewed unknown Array rs34363823 140 9924 0.0141072 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOX5 Pro108Ala P108A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOX5 Pro115Ala P115A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOX5 Pro143Ala P143A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ADAMTS7 Ser1324Pro S1324P not reviewed Insufficiently evaluated not reviewed unknown Array 15 8030 0.001868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMC3 Arg968Trp R968W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AGBL1 Val849Met V849M not reviewed Insufficiently evaluated not reviewed unknown Array 121 10256 0.011798 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RLBP1 Glu3Asp E3D not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PGPEP1L Val7Met V7M not reviewed Insufficiently evaluated not reviewed unknown Array 16 738 0.0216802 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LUC7L Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array rs61743947 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MSLNL Thr828Ala T828A not reviewed Insufficiently evaluated not reviewed unknown Array 370 9904 0.0373586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MSLNL Thr437Met T437M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10410 0.00105668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MSLNL Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10600 0.000283018 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRR25 Pro249Leu P249L not reviewed Insufficiently evaluated not reviewed unknown Array rs13337837 6 122 0.0491803 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CACNA1H Arg1886Leu R1886L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNA1H Arg1892Leu R1892L not reviewed Insufficiently evaluated not reviewed unknown Array rs58667649 37 10038 0.00368599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - PTX4 Ile439Val I439V not reviewed Insufficiently evaluated not reviewed unknown Array rs59554810 11 124 0.0887097 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PTX4 Val286Ile V286I not reviewed Insufficiently evaluated not reviewed unknown Array rs9926625 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRSS27 Leu286Ser L286S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734617 525 10740 0.0488827 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NLRC3 Ser482Asn S482N not reviewed Insufficiently evaluated not reviewed unknown Array 75 10116 0.007414 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - NLRC3 Met337Thr M337T not reviewed Insufficiently evaluated not reviewed unknown Array rs45483498 812 10124 0.0802055 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LOC342346 Ser583Phe S583F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF68 Ile398Val I398V not reviewed Insufficiently evaluated not reviewed unknown Array rs62625028 87 9948 0.00874548 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDXDC1 Ala310Val A310V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - PDXDC1 Phe405Leu F405L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MPV17L Glu191Lys E191K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.665 - - 0 - 1 N - - ACSM2B Glu428Asp E428D not reviewed Insufficiently evaluated not reviewed unknown Array rs9941182 192 10586 0.0181372 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF629 His827Leu H827L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741652 123 9822 0.0125229 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - 6 Y 2 N - - ZNF646 Ser1456Ala S1456A not reviewed Insufficiently evaluated not reviewed unknown Array 96 10756 0.00892525 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM72 Arg192Cys R192C not reviewed Insufficiently evaluated not reviewed unknown Array 119 10756 0.0110636 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - ITGAD Arg859Cys R859C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGAD Val1034Ile V1034I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NOD2 Arg708His R708H not reviewed Insufficiently evaluated not reviewed unknown Array rs35285618 83 10750 0.00772093 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.517 Y - 1 - 2 N - - NLRC5 Pro123Leu P123L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 7 Y 2 N - - BEAN1 Cys110Ser C110S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDH16 Ala549Thr A549T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735427 655 10758 0.0608849 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - EXOC3L Arg225His R225H not reviewed Insufficiently evaluated not reviewed unknown Array 199 10752 0.0185082 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RLTPR Val181Met V181M not reviewed Insufficiently evaluated not reviewed unknown Array 357 10220 0.0349315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - DPEP3 Val269Ile V269I not reviewed Insufficiently evaluated not reviewed unknown Array rs16957670 607 10758 0.0564231 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NFATC3 Asp738Glu D738E not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - HYDIN Arg468Pro R468P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HYDIN Arg478Pro R478P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HYDIN Tyr289Cys Y289C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - HYDIN Tyr306Cys Y306C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HYDIN Tyr316Cys Y316C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZFHX3 Gln938Pro Q938P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CNTNAP4 Ala214Gly A214G not reviewed Insufficiently evaluated not reviewed unknown Array rs34947321 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNTNAP4 Gln239Glu Q239E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNTNAP4 Thr1196Met T1196M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKD1L2 Ser2096Pro S2096P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L2 Pro1776His P1776H not reviewed Insufficiently evaluated not reviewed unknown Array 460 9550 0.0481675 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKD1L2 Ser1774Pro S1774P not reviewed Insufficiently evaluated not reviewed unknown Array 484 9532 0.0507763 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PKD1L2 Ser1104Cys S1104C not reviewed Insufficiently evaluated not reviewed unknown Array 50 10540 0.00474383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0182 Ala49Val A49V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10678 0.000842854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF469 Leu2574Pro L2574P not reviewed Insufficiently evaluated not reviewed unknown Array 9 3228 0.0027881 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.137 - - 7 Y 0 N - - CTU2 Ala108Pro A108P not reviewed Insufficiently evaluated not reviewed unknown Array rs61738915 195 10758 0.018126 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Val1310Ile V1310I not reviewed Insufficiently evaluated not reviewed unknown Array 5 3232 0.00154703 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD11 Pro1638Ala P1638A not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 1 N - - INPP5K Pro213Leu P213L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INPP5K Pro289Leu P289L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735262 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - WDR81 Pro435Leu P435L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMG6 Arg953Cys R953C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPV3 Met479Leu M479L not reviewed Insufficiently evaluated not reviewed unknown Array 252 10758 0.0234244 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - MINK1 Gln284Arg Q284R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAMTA2 Ser902Pro S902P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAMTA2 Ser905Pro S905P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAMTA2 Ser926Pro S926P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LOC728392 Asp3Asn D3N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PITPNM3 Tyr518His Y518H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PITPNM3 Tyr554His Y554H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -1 - 3 N - - C17ORF74 Val43Met V43M not reviewed Insufficiently evaluated not reviewed unknown Array rs72842820 1679 10452 0.160639 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP43 Val1020Ala V1020A not reviewed Insufficiently evaluated not reviewed unknown Array 54 9858 0.00547778 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TRPV2 Gly65Asp G65D not reviewed Insufficiently evaluated not reviewed unknown Array 356 10758 0.0330917 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.243 - - 4 Y 1 N - - SLC5A10 Ala91Val A91V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ULK2 Ala529Thr A529T not reviewed Insufficiently evaluated not reviewed unknown Array rs62636608 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0100 His1266Arg H1266R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - ABHD15 Glu183Lys E183K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - SLFN11 Ala523Thr A523T not reviewed Insufficiently evaluated not reviewed unknown Array rs73293380 171 7474 0.0228793 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLFN14 Glu400Gln E400Q not reviewed Insufficiently evaluated not reviewed unknown Array 157 3232 0.0485767 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - GPR179 Asp218Glu D218E not reviewed Insufficiently evaluated not reviewed unknown Array 122 10244 0.0119094 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - KRT27 Ala352Ser A352S not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRT40 Arg262His R262H not reviewed Insufficiently evaluated not reviewed unknown Array 73 10274 0.00710531 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KRTAP1-5 Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array 53 10070 0.00526316 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP9-9 Tyr117His Y117H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRTAP9-9 Thr120Ser T120S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNTNAP1 Ser1355Pro S1355P not reviewed Insufficiently evaluated not reviewed unknown Array 1 38 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WNK4 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754324 101 10684 0.00945339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.195 Y - 1 - 1 N - - AOC2 Pro141Leu P141L not reviewed Insufficiently evaluated not reviewed unknown Array rs35833794 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FAM171A2 Val237Leu V237L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WNT9B Ser244Leu S244L not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.134 - - 6 Y 0 N - - ABCC3 Pro920Ser P920S not reviewed Insufficiently evaluated not reviewed unknown Array rs35999272 456 10728 0.0425056 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF43 Arg529Trp R529W not reviewed Insufficiently evaluated not reviewed unknown Array rs62636625 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ACE Arg442His R442H not reviewed Insufficiently evaluated not reviewed unknown Array rs35865660 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ACE Thr572Met T572M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ACE Arg1290Gln R1290Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12720745 60 9902 0.00605938 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.058 Y - 0 - 1 N - - ACE Arg675Gln R675Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ACE Arg716Gln R716Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LIMD2 Ser78Asn S78N not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FTSJ3 Glu628Lys E628K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741254 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - RGS9 Arg498His R498H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGS9 Arg501His R501H not reviewed Insufficiently evaluated not reviewed unknown Array rs34797451 125 10178 0.0122814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - FADS6 Glu346Gly E346G not reviewed Insufficiently evaluated not reviewed unknown Array 9 9996 0.00090036 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASKIN2 Met1118Val M1118V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASKIN2 Met1200Val M1200V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LLGL2 Thr77Met T77M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - UNC13D Ile283Val I283V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754871 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.307 Y Y -4 - 3 N - - CDK3 Ile124Thr I124T not reviewed Insufficiently evaluated not reviewed unknown Array rs34918446 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 3 - 2 N - - C17ORF95 Leu89Gln L89Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAH17 Pro1547Thr P1547T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CANT1 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10752 0.00120908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RNF213 Glu168Lys E168K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Glu217Lys E217K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF55 Pro255Leu P255L not reviewed Insufficiently evaluated not reviewed unknown Array rs34517731 303 10460 0.0289675 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAHCC1 Asp755Glu D755E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC137 Pro287Leu P287L not reviewed Insufficiently evaluated not reviewed unknown Array 103 10108 0.0101899 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.099 - - 7 Y 0 N - - FASN Ala2040Ser A2040S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10754 0.00213874 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CTAGE1 Val696Met V696M not reviewed Insufficiently evaluated not reviewed unknown Array 271 10506 0.0257948 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE1 Pro686Thr P686T not reviewed Insufficiently evaluated not reviewed unknown Array 284 10680 0.0265918 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASXL3 Ile1346Val I1346V not reviewed Insufficiently evaluated not reviewed unknown Array rs61995734 287 10078 0.0284779 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.423 - - -4 - 1 N - - ZSCAN30 Gln238Pro Q238P not reviewed Insufficiently evaluated not reviewed unknown Array rs2249769 711 10758 0.0660904 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - KIAA1328 Arg383Cys R383C not reviewed Insufficiently evaluated not reviewed unknown Array rs12326301 298 9754 0.0305516 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SKA1 His86Leu H86L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SERPINBP1 Leu103Phe L103F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF21 Arg314Gln R314Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34104245 145 10744 0.0134959 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA7 Arg1812His R1812H not reviewed Insufficiently evaluated not reviewed unknown Array 292 10756 0.0271476 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TCF7L1 Leu287Phe L287F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITGB1BP3 Arg181Cys R181C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.699 - - 8 Y 1 N - - ANKRD24 Thr592Ala T592A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741405 116 10200 0.0113725 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLIN4 Asn728Lys N728K not reviewed Insufficiently evaluated not reviewed unknown Array rs62115192 1220 10116 0.120601 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.154 - - 1 - 0 N - - LRG1 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - ARRDC5 Gln231Arg Q231R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10340 0.00367505 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRS Pro1233Ala P1233A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRS Pro1255Ala P1255A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10736 0.000372578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PTPRS Pro824Ala P824A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRS Pro828Ala P828A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR22 Pro182Leu P182L not reviewed Insufficiently evaluated not reviewed unknown Array 215 9186 0.0234052 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - DUS3L Asp367Asn D367N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBN3 Gly526Ser G526S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10712 0.00354742 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRAM1 Ala528Val A528V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRAM1 Pro253Ala P253A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10476 0.00076365 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - 2 - 1 N - - MUC16 Ser13917Arg S13917R not reviewed Insufficiently evaluated not reviewed unknown Array rs28501217 85 9824 0.00865228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr12257Ser T12257S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10322 0.00406898 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Pro8960Arg P8960R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10004 0.00339864 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Thr5366Ala T5366A not reviewed Insufficiently evaluated not reviewed unknown Array 33 10256 0.00321763 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - S1PR2 Val276Ile V276I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PDE4A Arg247Gln R247Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4A Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4A Arg308Gln R308Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - PDE4A Arg69Gln R69Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRI1 Arg699Gln R699Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34495400 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - KRI1 Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - QTRT1 Ser129Phe S129F not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - DOCK6 Arg826Cys R826C not reviewed Insufficiently evaluated not reviewed unknown Array rs35881692 24 10390 0.00230991 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOCK6 Cys247Tyr C247Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 9878 0.000101235 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF844 Pro406Ala P406A not reviewed Insufficiently evaluated not reviewed unknown Array 35 3234 0.0108225 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF799 Ala317Val A317V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAN2B1 Gln581Glu Q581E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - IER2 Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array 61 9890 0.00616785 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.7 - - 1 - 1 N - - CACNA1A Gly2044Arg G2044R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - CACNA1A Gly2047Arg G2047R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DCAF15 Val338Ala V338A not reviewed Insufficiently evaluated not reviewed unknown Array rs7245761 1419 10752 0.131975 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RASAL3 Ser843Asn S843N not reviewed Insufficiently evaluated not reviewed unknown Array 121 9494 0.0127449 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHERP Ala487Thr A487T not reviewed Insufficiently evaluated not reviewed unknown Array rs11539315 24 8252 0.00290838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NWD1 Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - NWD1 Val723Phe V723F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - NWD1 Gly1180Ser G1180S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - UNC13A Asp14Tyr D14Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC124 Glu138Gln E138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8104153 235 10684 0.0219955 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.171 - - -2 - 0 N - - ARRDC2 Ala239Thr A239T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARRDC2 Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array rs8110271 72 10520 0.00684411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARRDC2 Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARRDC2 Ala254Val A254V not reviewed Insufficiently evaluated not reviewed unknown Array rs8111135 264 10582 0.024948 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.131 - - 2 - 0 N - - ISYNA1 Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISYNA1 Arg62Gln R62Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUGP2 Met640Val M640V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF737 Arg492Cys R492C not reviewed Insufficiently evaluated not reviewed unknown Array rs10410201 1 3234 0.000309214 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - ZNF208 Pro424Thr P424T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - ZNF676 Gly369Glu G369E not reviewed Insufficiently evaluated not reviewed unknown Array rs75690456 9 126 0.0714286 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF99 Arg88Ser R88S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.863 - - 3 - 2 N - - TDRD12 Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array 33 3234 0.0102041 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RHPN2 Ser471Gly S471G not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - RHPN2 Ala469Thr A469T not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - ZNF181 Ala244Val A244V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF181 Ala245Val A245V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10728 9.3214e-05 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.387 - - 2 - 1 N - - HAUS5 Lys428Asn K428N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10140 0.000197238 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 1 - 1 N - - UPK1A Ile128Thr I128T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 3 - 2 N - - NPHS1 Leu392Pro L392P not reviewed Insufficiently evaluated not reviewed unknown Array rs34320609 207 10758 0.0192415 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.698 Y - 7 Y 2 N - - IL28A Thr10Met T10M not reviewed Insufficiently evaluated not reviewed unknown Array rs554971 56 10740 0.00521415 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL28A His32Arg H32R not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.923 - - 1 - 2 N - - PLEKHG2 Arg1293Trp R1293W not reviewed Insufficiently evaluated not reviewed unknown Array 25 10718 0.00233252 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - LTBP4 Ser434Thr S434T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LTBP4 Ser464Thr S464T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LTBP4 Ser501Thr S501T not reviewed Insufficiently evaluated not reviewed unknown Array rs34545902 446 10036 0.04444 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2S1 Ala360Val A360V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10730 0.00158434 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF69 Glu105Lys E105K not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIC Gly459Ser G459S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10752 0.00418527 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - SRRM5 Arg413Cys R413C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LYPD5 Pro47Arg P47R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 1 N - - LYPD5 Pro4Arg P4R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF404 Glu437Lys E437K not reviewed Insufficiently evaluated not reviewed unknown Array 603 10732 0.0561871 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF234 Phe163Leu F163L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - BCL3 Ala397Thr A397T not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCAM Arg282His R282H not reviewed Insufficiently evaluated not reviewed unknown Array rs9967601 45 10756 0.00418371 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 1 - 3 N - - PNMAL1 Pro377Arg P377R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DHX34 Pro760Ser P760S not reviewed Insufficiently evaluated not reviewed unknown Array 3 110 0.0272727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF541 Gly222Ser G222S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 2 N - - EHD2 Pro48Leu P48L not reviewed Insufficiently evaluated not reviewed unknown Array rs11550016 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NTN5 Thr304Pro T304P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - DKKL1 Leu29Ile L29I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FUZ Ala377Asp A377D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FUZ Ala413Asp A413D not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIGLEC10 Ser387Pro S387P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIGLEC5 Gln263Arg Q263R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736487 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - ZNF816 Ala147Ser A147S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF816 Thr89Met T89M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOC646508 Glu345Gln E345Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF813 Tyr383Cys Y383C not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - LILRB2 Thr318Ala T318A not reviewed Insufficiently evaluated not reviewed unknown Array rs10405713 494 10622 0.0465073 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LILRB1 Pro86Leu P86L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - KIR2DL4 Arg340His R340H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIR3DL2 Val68Ile V68I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NLRP2 Thr506Ile T506I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP2 Thr507Ile T507I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GP6 Arg576Lys R576K not reviewed Insufficiently evaluated not reviewed unknown Array rs10418074 538 9624 0.0559019 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - EPS8L1 Pro216Leu P216L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.015 - - 7 Y 0 N - - EPS8L1 Pro343Leu P343L not reviewed Insufficiently evaluated not reviewed unknown Array rs1671161 10 10734 0.000931619 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.499 - - 7 Y 1 N - - C19ORF51 Val516Met V516M not reviewed Insufficiently evaluated not reviewed unknown Array 65 9986 0.00650911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF51 Trp44Leu W44L not reviewed Insufficiently evaluated not reviewed unknown Array 66 9960 0.00662651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP6R1 Thr789Met T789M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10008 0.00339728 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SSC5D Pro881Ala P881A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZIK1 Val260Ile V260I not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZSCAN22 Glu257Gln E257Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - ZSCAN22 Glu381Gln E381Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -2 - 2 N - - SNTG2 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744692 172 9666 0.0177943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CYS1 Arg154Gly R154G not reviewed Insufficiently evaluated not reviewed unknown Array 49 10734 0.00456493 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 6 Y 2 N - - MFSD2B Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.07 - - 1 - 0 N - - FAM59B Arg422Pro R422P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM59B Arg499Pro R499P not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 5 Y 1 N - - TTC27 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF33 Ser582Pro S582P not reviewed Insufficiently evaluated not reviewed unknown Array rs6755527 3031 3230 0.93839 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TET3 Gly1360Ser G1360S not reviewed Insufficiently evaluated not reviewed unknown Array 16 9702 0.00164914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 2 - 1 N - - RETSAT Ser492Phe S492F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - POLR1A Thr527Met T527M not reviewed Insufficiently evaluated not reviewed unknown Array 3 9990 0.0003003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHST10 Val34Ala V34A not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL1F8 Ile110Val I110V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - NEB Leu1742Arg L1742R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10276 0.000194628 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ile23972Thr I23972T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile24097Thr I24097T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile24164Thr I24164T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile30469Thr I30469T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Leu17954Pro L17954P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu18079Pro L18079P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu18146Pro L18146P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Leu24451Pro L24451P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Val15131Met V15131M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val15256Met V15256M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val15323Met V15323M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val21628Met V21628M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg14182Cys R14182C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg14307Cys R14307C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg14374Cys R14374C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Arg20679Cys R20679C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FSIP2 Ile3190Val I3190V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC150 Arg589His R589H not reviewed Insufficiently evaluated not reviewed unknown Array 93 9510 0.00977918 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALS2CR11 Glu1519Lys E1519K not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALS2CR11 Asn890Ser N890S not reviewed Insufficiently evaluated not reviewed unknown Array rs6743951 237 3234 0.0732839 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM119A Tyr177Cys Y177C not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CXCR1 Met31Arg M31R not reviewed Insufficiently evaluated not reviewed unknown Array rs16858811 434 10758 0.0403421 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPBAR1 Pro153Ser P153S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SP100 Ala811Thr A811T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.085 - - 1 - 0 N - - USP40 Cys807Tyr C807Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP40 Arg771His R771H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP40 Leu203Ser L203S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP40 Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGT1A3 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL6A3 Val757Met V757M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL6A3 Val957Met V957M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PRLH Val63Ala V63A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 2 - 0 N - - CAPN10 Leu474Met L474M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10034 0.00428543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.858 - - -3 - 2 N - - C2ORF54 Ala91Ser A91S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANO7 Asp155Glu D155E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANO7 Asp156Glu D156E not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - D2HGDH His356Tyr H356Y not reviewed Insufficiently evaluated not reviewed unknown Array 230 10750 0.0213953 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.067 Y - -1 - 1 N - - HSPA12B Gln286His Q286H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSPA12B Gln287His Q287H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SEC23B His471Gln H471Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CRNKL1 Val843Ile V843I not reviewed Insufficiently evaluated not reviewed unknown Array rs35201190 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM90B Asp162Asn D162N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - -1 - 1 N - - VSX1 Asp105Glu D105E not reviewed Insufficiently evaluated not reviewed unknown Array rs6115023 97 6082 0.0159487 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.852 - - -2 - 2 N - - MYLK2 Gly89Asp G89D not reviewed Insufficiently evaluated not reviewed unknown Array 148 10690 0.0138447 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 1 N - - SUN5 Ala174Thr A174T not reviewed Insufficiently evaluated not reviewed unknown Array rs17123951 488 10758 0.0453616 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - ACSS2 Gly601Ala G601A not reviewed Insufficiently evaluated not reviewed unknown Array rs45486997 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ACSS2 Gly614Ala G614A not reviewed Insufficiently evaluated not reviewed unknown Array 419 10758 0.0389478 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RALGAPB His1191Tyr H1191Y not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 0 N - - ARHGAP40 Arg156Trp R156W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP40 Arg541Gly R541G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF334 Pro128Ala P128A not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF334 Pro90Ala P90A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF123 Arg423Leu R423L not reviewed Insufficiently evaluated not reviewed unknown Array 2 3232 0.000618811 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC2A10 Ala385Gly A385G not reviewed Insufficiently evaluated not reviewed unknown Array 185 10756 0.0171997 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - NFATC2 Gly320Ser G320S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFATC2 Gly340Ser G340S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CASS4 Ser357Cys S357C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.121 - - 3 - 0 N - - LAMA5 Arg2053His R2053H not reviewed Insufficiently evaluated not reviewed unknown Array rs3737137 1465 9876 0.148339 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - RBM11 Ile105Thr I105T not reviewed Insufficiently evaluated not reviewed unknown Array 64 7786 0.00821988 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - UMODL1 Gly582Ser G582S not reviewed Insufficiently evaluated not reviewed unknown Array 86 10178 0.0084496 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SIK1 Ala695Val A695V not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL6A2 Ile1015Leu I1015L not reviewed Insufficiently evaluated not reviewed unknown Array rs11910483 242 10742 0.0225284 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.85 Y Y -2 - 4 N - - MICAL3 Gly1028Arg G1028R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRMT2A Asp426Asn D426N not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.536 - - -1 - 1 N - - PPIL2 Pro335Thr P335T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 4 Y 2 N - - IGLL5 Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NEFH Glu481Lys E481K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCN2 Arg188Trp R188W not reviewed Insufficiently evaluated not reviewed unknown Array rs35838082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DEPDC5 Ile1197Thr I1197T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - DEPDC5 Ile1219Thr I1219T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10176 0.00216195 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APOL1 Arg24Lys R24K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOL1 Arg8Lys R8K not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - APOL1 Ser10Phe S10F not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOL1 Ser26Phe S26F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDC42EP1 Ser180Ala S180A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - -1 - 1 N - - NOL12 Tyr98His Y98H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737838 295 10758 0.0274215 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.974 - - -1 - 2 N - - GCAT Asn260Thr N260T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.488 - - 1 - 1 N - - GCAT Asn286Thr N286T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCAT Arg312Trp R312W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOC646851 Ser294Ile S294I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RIBC2 Ser263Trp S263W not reviewed Insufficiently evaluated not reviewed unknown Array rs1022478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RIBC2 Gly330Ser G330S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CELSR1 Tyr1894His Y1894H not reviewed Insufficiently evaluated not reviewed unknown Array rs34467708 302 10742 0.0281139 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - MOV10L1 Ala1133Glu A1133E not reviewed Insufficiently evaluated not reviewed unknown Array rs2272843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MOV10L1 Ala306Glu A306E not reviewed Insufficiently evaluated not reviewed unknown Array rs2272843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUBGCP6 Arg1400His R1400H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - SBF1 Thr1847Ala T1847A not reviewed Insufficiently evaluated not reviewed unknown Array 113 10592 0.0106684 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBLN2 Arg471Cys R471C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DLEC1 Arg404Cys R404C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10364 0.00144732 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - XYLB Ser160Arg S160R not reviewed Insufficiently evaluated not reviewed unknown Array rs2234611 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC21A Asp1170Asn D1170N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM198A Pro183Leu P183L not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.24 - - 7 Y 1 N - - PRSS45 Met54Ile M54I not reviewed Insufficiently evaluated not reviewed unknown Array 328 9980 0.0328657 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IQCF6 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SELK Phe38Val F38V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR5H14 Leu101Phe L101F not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5H14 Phe164Tyr F164Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - OR5H15 Tyr19Phe Y19F not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - HHLA2 His238Gln H238Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 9566 0.00292703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - HHLA2 Pro392Leu P392L not reviewed Insufficiently evaluated not reviewed unknown Array 27 9644 0.00279967 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR52 Val1809Ile V1809I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR52 Pro1185Arg P1185R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP31 Asp845Val D845V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9910 0.000302724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - GPR156 Arg794His R794H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR156 Arg215Trp R215W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DTX3L Ser28Asn S28N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - UROC1 Arg496Gln R496Q not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - UROC1 Arg556Gln R556Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - C3ORF25 Arg215Gly R215G not reviewed Insufficiently evaluated not reviewed unknown Array rs6790768 107 10016 0.0106829 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL6A5 Ser196Gly S196G not reviewed Insufficiently evaluated not reviewed unknown Array 41 3234 0.0126778 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - COL6A5 Glu455Lys E455K not reviewed Insufficiently evaluated not reviewed unknown Array rs1453241 866 3234 0.26778 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TRIM42 Asn137Lys N137K not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - C3ORF16 Ile205Thr I205T not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LEKR1 Arg624Ser R624S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OTOL1 Ala347Thr A347T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 1 - 1 N - - SLITRK3 Ser767Thr S767T not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EHHADH Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRG Pro351Thr P351T not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 1 N - - TMEM44 Pro362Leu P362L not reviewed Insufficiently evaluated not reviewed unknown Array rs745169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC20 Thr418Ile T418I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Thr453Ile T453I not reviewed Insufficiently evaluated not reviewed unknown Array 352 10448 0.0336907 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Ile422Thr I422T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC20 Ile457Thr I457T not reviewed Insufficiently evaluated not reviewed unknown Array 327 10482 0.0311963 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Arg394His R394H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Arg4502His R4502H not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Ala459Thr A459T not reviewed Insufficiently evaluated not reviewed unknown Array 37 9962 0.00371411 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC33 Arg60Trp R60W not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.692 - - 7 Y 1 N - - ZNF718 Glu314Lys E314K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10492 0.00333587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF721 Glu645Val E645V not reviewed Insufficiently evaluated not reviewed unknown Array 175 10144 0.0172516 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RNF212 Leu93Phe L93F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFYVE28 Asp387Glu D387E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFYVE28 Asp427Glu D427E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFYVE28 Asp457Glu D457E not reviewed Insufficiently evaluated not reviewed unknown Array 105 10708 0.00980575 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - ZFYVE28 Pro246Ser P246S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFYVE28 Pro286Ser P286S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM193A Met192Val M192V not reviewed Insufficiently evaluated not reviewed unknown Array rs17164077 10 128 0.078125 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - DOK7 Pro214Leu P214L benign Low clinical importance, Uncertain benign unknown Array 11 10720 0.00102612 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.989 Y Y 7 Y 4 N 0 0 Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause congenital myasthenic syndromes, but these are usually more severe (frameshift or nonsense mutatinos) and there are many other genomes with rare missense polymorphisms. SH3TC1 Arg738Pro R738P not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLNK Trp80Arg W80R not reviewed Insufficiently evaluated not reviewed unknown Array 122 9884 0.0123432 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.108 - - 7 Y 0 N - - HS3ST1 Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array rs34719057 383 10758 0.0356014 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.021 - - -3 - 0 N - - CPEB2 Ser833Gly S833G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPEB2 Ser836Gly S836G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPEB2 Ser841Gly S841G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPEB2 Ser844Gly S844G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPEB2 Ser863Gly S863G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPEB2 Ser871Gly S871G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM184B Asn952Ser N952S not reviewed Insufficiently evaluated not reviewed unknown Array 20 3234 0.00618429 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEL1L3 Ile554Val I554V not reviewed Insufficiently evaluated not reviewed unknown Array rs16877591 543 9750 0.0556923 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SEL1L3 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array rs16877661 176 9666 0.0182082 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 1 N - - KIAA1239 Ala1058Thr A1058T not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ENAM Gly389Ser G389S not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF36 Ser18Asn S18N not reviewed Insufficiently evaluated not reviewed unknown Array rs11938345 477 10758 0.0443391 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM190A Gly382Ser G382S not reviewed Insufficiently evaluated not reviewed unknown Array rs12647859 1250 9582 0.130453 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.474 - - 2 - 0 N - - ADH7 Met253Val M253V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIT3 Val36Ala V36A not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - EGF Arg389Lys R389K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ANKRD50 Ile212Val I212V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INTU Ser462Ala S462A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FREM3 Glu1505Lys E1505K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FREM3 Asn1494Lys N1494K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FREM3 Thr914Asn T914N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS48 Leu118Ser L118S not reviewed Insufficiently evaluated not reviewed unknown Array rs17027505 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRSS48 Ser160Ala S160A not reviewed Insufficiently evaluated not reviewed unknown Array rs17027509 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRSS48 Trp321Ser W321S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DDX60L Ser1080Cys S1080C not reviewed Insufficiently evaluated not reviewed unknown Array rs17540213 468 9282 0.0504202 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MYO10 Ser2024Thr S2024T not reviewed Insufficiently evaluated not reviewed unknown Array 148 9930 0.0149043 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAMTS12 Thr1241Ala T1241A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - C5ORF33 Lys120Arg K120R not reviewed Insufficiently evaluated not reviewed unknown Array 135 9520 0.0141807 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NIPBL Ser318Pro S318P benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y - - - - - - Y - - - 0.971 Y Y 3 - 4 N 0 0 Rare, tentatively evaluated as benign. Predicted to be damaging by Polyphen 2 and other recessive variants in this gene cause Cornelia de Lange syndrome, but these are mostly more severe nonsense or frameshift mutations, or not nearby in the protein sequence. IL6ST Lys842Glu K842E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL6ST Lys903Glu K903E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM159B Ser5Arg S5R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SREK1 Arg254His R254H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SREK1 Arg370His R370H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAST4 Ser1863Asn S1863N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.588 - - 0 - 1 N - - MAST4 Trp1875Arg W1875R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD31 Asp1570Asn D1570N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD31 Met61Val M61V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMYA5 Gln175His Q175H not reviewed Insufficiently evaluated not reviewed unknown Array rs6895605 72 9598 0.00750156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -1 - 0 N - - GPR98 Ile707Leu I707L not reviewed Insufficiently evaluated not reviewed unknown Array 17 9516 0.00178646 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 2 N - - GPR98 Trp4969Arg W4969R not reviewed Insufficiently evaluated not reviewed unknown Array rs7729495 498 9566 0.0520594 11 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - RGMB Ser306Asn S306N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10554 0.00123176 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - TMEM232 His642Arg H642R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM232 Arg607Gln R607Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM232 Val357Ile V357I not reviewed Insufficiently evaluated not reviewed unknown Array 17 3232 0.0052599 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AQPEP Val936Ile V936I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC35A4 Arg135Gln R135Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61748966 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.359 - - 0 - 1 N - - PCDHA9 Lys138Asn K138N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHGA11 Met318Thr M318T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF37 Met414Val M414V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10454 0.003348 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PPARGC1B Ala139Pro A139P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPARGC1B Ala164Pro A164P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TIGD6 Arg67Trp R67W not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.787 - - 7 Y 1 N - - SYNPO Asp67Asn D67N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIF4B Ile816Leu I816L not reviewed Insufficiently evaluated not reviewed unknown Array 98 10756 0.00911119 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZFP2 Ser450Gly S450G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 2 - 1 N - - ZNF454 Val141Glu V141E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - FLT4 Ser26Ala S26A not reviewed Insufficiently evaluated not reviewed unknown Array 104 10750 0.00967442 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.968 Y Y -1 - 4 N - - KIF13A Asn1601Lys N1601K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF13A Asn1614Lys N1614K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF13A Asn1649Lys N1649K not reviewed Insufficiently evaluated not reviewed unknown Array 24 10136 0.0023678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - BTN2A2 Pro269Ser P269S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTN2A2 Pro363Ser P363S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BTN2A2 Pro479Ser P479S not reviewed Insufficiently evaluated not reviewed unknown Array rs16891646 267 10758 0.0248187 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.538 - - 3 - 1 N - - MUC21 Thr353Pro T353P not reviewed Insufficiently evaluated not reviewed unknown Array rs41288687 19 10754 0.00176678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSORS1C1 Ala58Ser A58S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233944 82 7522 0.0109014 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-C Glu197Lys E197K not reviewed Insufficiently evaluated not reviewed unknown Array rs1050357 661 10752 0.0614769 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NFKBIL1 Gly242Arg G242R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NFKBIL1 Gly257Arg G257R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NFKBIL1 Gly265Arg G265R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NFKBIL1 Gly280Arg G280R not reviewed Insufficiently evaluated not reviewed unknown Array 121 7424 0.0162985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LTB Gln212Arg Q212R not reviewed Insufficiently evaluated not reviewed unknown Array 8 7524 0.00106326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.452 - - 0 - 1 N - - TNXB Arg2976His R2976H not reviewed Insufficiently evaluated not reviewed unknown Array 15 6594 0.00227479 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - HLA-DRB1 Tyr59His Y59H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF132 Cys767Gly C767G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CUL7 Arg936Gln R936Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - ABCC10 Thr1210Ile T1210I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XPO5 Gly81Ser G81S not reviewed Insufficiently evaluated not reviewed unknown Array rs61762966 104 9960 0.0104418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RSPH9 Arg278His R278H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - C6ORF223 Gln62Arg Q62R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAPN11 Leu142Pro L142P not reviewed Insufficiently evaluated not reviewed unknown Array 109 9850 0.011066 0 0 0 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - EFHC1 Met429Thr M429T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - EYS Val2325Ile V2325I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - EYS Arg667His R667H not reviewed Insufficiently evaluated not reviewed unknown Array 2 3232 0.000618811 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PNRC1 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array rs2231277 62 10752 0.00576637 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ASCC3 Ile2040Val I2040V not reviewed Insufficiently evaluated not reviewed unknown Array rs35456108 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RPF2 Gly60Ser G60S not reviewed Insufficiently evaluated not reviewed unknown Array rs6909298 239 10712 0.0223114 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF204 Thr130Ala T130A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP7 Asp529Asn D529N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP7 Asp581Asn D581N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP7 Asp638Asn D638N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP7 Asp660Asn D660N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP7 Asp697Asn D697N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP7 Asp705Asn D705N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP7 Arg182Gln R182Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7 Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7 Arg291Gln R291Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7 Arg313Gln R313Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7 Arg350Gln R350Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7 Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1244 Val101Leu V101L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - PHACTR2 His185Arg H185R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHACTR2 His196Arg H196R not reviewed Insufficiently evaluated not reviewed unknown Array 24 9592 0.00250208 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZC3H12D Asp119Asn D119N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - RAET1G Pro76His P76H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - RAET1G Val74Ile V74I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - RAET1L Pro76Ser P76S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 3 - 0 N - - SYNJ2 Gly800Arg G800R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FNDC1 Pro491Leu P491L not reviewed Insufficiently evaluated not reviewed unknown Array 28 9846 0.00284379 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - DACT2 Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array 5 3192 0.00156642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - C6ORF120 Glu140Lys E140K not reviewed Insufficiently evaluated not reviewed unknown Array 98 10754 0.00911289 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLL1 Val444Met V444M not reviewed Insufficiently evaluated not reviewed unknown Array rs16901311 120 10732 0.0111815 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM120B Asp442Gly D442G not reviewed Insufficiently evaluated not reviewed unknown Array rs61733630 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VWDE Ala351Gly A351G not reviewed Insufficiently evaluated not reviewed unknown Array 28 3232 0.00866337 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCIN Lys253Arg K253R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCIN Lys500Arg K500R not reviewed Insufficiently evaluated not reviewed unknown Array rs35705332 52 9700 0.00536082 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LOC100129335 Thr23Ser T23S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SNX13 Leu224Val L224V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - DNAH11 Thr400Ile T400I not reviewed Insufficiently evaluated not reviewed unknown Array rs72655982 410 9562 0.0428781 5 0 5 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Ala568Thr A568T not reviewed Insufficiently evaluated not reviewed unknown Array rs72655988 402 9468 0.0424588 5 0 5 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - DNAH11 Ser2331Cys S2331C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Pro3588Ala P3588A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - DNAH11 Leu4131Arg L4131R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - SUN3 Pro160Leu P160L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - C7ORF57 Glu53Lys E53K not reviewed Insufficiently evaluated not reviewed unknown Array 2 9814 0.00020379 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COBL Ser1033Gly S1033G not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ZNF138 Arg219His R219H not reviewed Insufficiently evaluated not reviewed unknown Array 153 10756 0.0142246 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERV3 Asp159Val D159V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UPK3B Arg223His R223H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCLO Ser1489Cys S1489C not reviewed Insufficiently evaluated not reviewed unknown Array 39 9570 0.00407524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1324L Leu562Val L562V not reviewed Insufficiently evaluated not reviewed unknown Array rs34412146 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZAN Val484Met V484M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZAN Thr1650Lys T1650K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10322 0.00261577 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDHR3 Val732Ile V732I not reviewed Insufficiently evaluated not reviewed unknown Array rs11505886 25 10262 0.00243617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - NAA38 Asp74Asn D74N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - -1 - 0 N - - SPAM1 Phe6Ser F6S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - RBM28 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RBM28 Glu112Gln E112Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SVOPL His154Tyr H154Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - TMEM213 Arg3His R3H not reviewed Insufficiently evaluated not reviewed unknown Array 99 10648 0.00929752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2A5 Thr101Asn T101N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741408 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ARHGEF5 Gln481Arg Q481R not reviewed Insufficiently evaluated not reviewed unknown Array 8 6694 0.0011951 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSPO Arg2423Gln R2423Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACTR3C Gln121Arg Q121R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOS3 Arg613Gly R613G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - ASB10 Pro402Thr P402T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.526 - - 4 Y 1 N - - PRKAG2 Ser20Ile S20I not reviewed Insufficiently evaluated not reviewed unknown Array 257 10758 0.0238892 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.201 Y - 5 Y 2 N - - DEFA5 Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array rs7839771 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RP1L1 Thr2331Met T2331M not reviewed Insufficiently evaluated not reviewed unknown Array 35 9850 0.0035533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RP1L1 Gly874Ser G874S not reviewed Insufficiently evaluated not reviewed unknown Array rs12114682 64 8678 0.00737497 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GFRA2 Pro116Ser P116S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GFRA2 Pro144Ser P144S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GFRA2 Pro249Ser P249S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10636 0.000752162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - KIAA1967 Gln760His Q760H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - PEBP4 Asp122Asn D122N not reviewed Insufficiently evaluated not reviewed unknown Array 339 10010 0.0338661 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.184 - - -1 - 0 N - - TNFRSF10B Leu206Ser L206S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNFRSF10B Leu235Ser L235S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ADAMDEC1 Met121Thr M121T not reviewed Insufficiently evaluated not reviewed unknown Array rs7007084 321 10758 0.0298383 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - ADAMDEC1 Met42Thr M42T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PNMA2 Asn63Ser N63S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLU Asn328His N328H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PROSC Val24Met V24M not reviewed Insufficiently evaluated not reviewed unknown Array rs35423325 96 10578 0.00907544 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - GPR124 Cys1084Ser C1084S not reviewed Insufficiently evaluated not reviewed unknown Array 95 10254 0.00926468 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - FGFR1 Pro762Ser P762S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FGFR1 Pro803Ser P803S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ADAM32 Met668Thr M668T not reviewed Insufficiently evaluated not reviewed unknown Array 364 9474 0.0384209 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.923 - - 2 - 2 N - - PRKDC Thr3311Met T3311M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKDC Ser141Cys S141C not reviewed Insufficiently evaluated not reviewed unknown Array 18 9172 0.00196249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF22 Ser81Gly S81G not reviewed Insufficiently evaluated not reviewed unknown Array rs72641628 182 10136 0.0179558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFHX4 Ala1639Val A1639V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFHX4 Ala1684Thr A1684T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FZD6 Ala632Glu A632E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKHD1L1 Arg2572Gln R2572Q not reviewed Insufficiently evaluated not reviewed unknown Array 247 10202 0.0242109 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - PKHD1L1 Val3182Ala V3182A not reviewed Insufficiently evaluated not reviewed unknown Array 265 9638 0.0274953 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TRPS1 Thr795Asn T795N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SLC30A8 Arg276Gln R276Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POU5F1B Ser335Pro S335P not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TG Asp1729Ala D1729A not reviewed Insufficiently evaluated not reviewed unknown Array rs61744749 323 10758 0.0300242 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.486 Y - 5 Y 2 N - - ZFAT Arg610Lys R610K not reviewed Insufficiently evaluated not reviewed unknown Array rs35003767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DENND3 Pro606Thr P606T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLJ43860 Arg144Trp R144W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZC3H3 Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.427 - - 3 - 1 N - - SCRIB Ala1198Thr A1198T not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2025Val A2025V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala2035Val A2035V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala2043Val A2043V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala2057Val A2057V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala2061Val A2061V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala2084Val A2084V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Ala2194Val A2194V not reviewed Insufficiently evaluated not reviewed unknown Array rs7002002 2329 9018 0.258261 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DOCK8 Ala1870Pro A1870P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOCK8 Ala1902Pro A1902P not reviewed Insufficiently evaluated not reviewed unknown Array rs34908836 12 126 0.0952381 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDKN2A Ala127Ser A127S not reviewed Insufficiently evaluated not reviewed unknown Array rs6413464 56 10752 0.00520833 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - IL11RA Pro65Thr P65T not reviewed Insufficiently evaluated not reviewed unknown Array rs11575589 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRPM6 Val1388Ile V1388I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - PRUNE2 Asp1081Gly D1081G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZCCHC6 Glu1012Gly E1012G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ECM2 Asn403His N403H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - BICD2 Leu373Met L373M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - -3 - 2 N - - ZNF169 Ile279Met I279M not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF782 Ser376Pro S376P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - C9ORF174 Pro162His P162H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LPPR1 Ser12Ala S12A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR13C5 Ser104Gly S104G not reviewed Insufficiently evaluated not reviewed unknown Array 7 126 0.0555556 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR13C2 Met117Val M117V not reviewed Insufficiently evaluated not reviewed unknown Array rs59798157 5 126 0.0396825 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - AKAP2 Lys619Glu K619E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP2 Lys708Glu K708E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALM2-AKAP2 Lys850Glu K850E not reviewed Insufficiently evaluated not reviewed unknown Array rs35935397 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGS3 Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ORM1 Asp164His D164H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DFNB31 Arg499Cys R499C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DFNB31 Arg881Cys R881C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DFNB31 Arg882Cys R882C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CDK5RAP2 Val12Leu V12L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - OR1L1 Ser95Gly S95G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR1L1 Leu258Val L258V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR144 Val887Met V887M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIZ1 Ser498Phe S498F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CIZ1 Ser517Phe S517F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CIZ1 Ser522Phe S522F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CIZ1 Ser578Phe S578F not reviewed Insufficiently evaluated not reviewed unknown Array rs12334 337 10734 0.0313956 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BAT2L1 Met417Val M417V not reviewed Insufficiently evaluated not reviewed unknown Array rs34553878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAPGEF1 Arg480Trp R480W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAPGEF1 Arg498Trp R498W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10302 9.7068e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GBGT1 Ile291Phe I291F not reviewed Insufficiently evaluated not reviewed unknown Array rs35403335 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KCNT1 Arg682Gln R682Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EGFL7 Ile106Val I106V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C8G Ala59Pro A59P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENTPD2 Glu370Lys E370K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 0 - 0 N - - EXD3 Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10012 0.00639233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - GTPBP6 Glu36Lys E36K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHRSX Gly74Val G74V not reviewed Insufficiently evaluated not reviewed unknown Array rs28434537 281 10744 0.0261541 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.841 - - 8 Y 1 N - - CD99 Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array 171 10622 0.0160987 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR64 His252Gln H252Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR64 His260Gln H260Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR64 His266Gln H266Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR64 His274Gln H274Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDHA1 Thr25Met T25M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - KDM6A Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array rs6529 9 8330 0.00108043 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDK16 Asp9Gly D9G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAGE2B Pro84Arg P84R not reviewed Insufficiently evaluated not reviewed unknown Array 222 8761 0.0253396 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PAGE2 Pro84Arg P84R not reviewed Insufficiently evaluated not reviewed unknown Array 122 8721 0.0139892 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ZXDA Pro147Ser P147S not reviewed Insufficiently evaluated not reviewed unknown Array rs28645514 77 7390 0.0104195 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.946 - - 3 - 2 N - - ZMAT1 Arg214Lys R214K not reviewed Insufficiently evaluated not reviewed unknown Array 800 8761 0.0913138 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CXORF57 Ile496Met I496M not reviewed Insufficiently evaluated not reviewed unknown Array rs5962707 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ODZ1 Met370Thr M370T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - L1CAM Pro10Ser P10S not reviewed Insufficiently evaluated not reviewed unknown Array 101 8761 0.0115284 2 0 4 0 0 - - - - - - - - - - - - Y - - - 0.674 Y Y 3 - 3 N - - ARHGAP4 Arg679Gln R679Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 8743 0.00446071 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 1 N - - ARHGAP4 Arg719Gln R719Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOX5 Trp265Stop W265X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOX5 Trp272Stop W272X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOX5 Trp300Stop W300X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1A Arg1915Stop R1915X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CACNA1A Arg1918Stop R1918X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 167 10648 0.0156837 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CCDC30 His772Asn H772N not reviewed Insufficiently evaluated not reviewed unknown Array rs16829829 831 10758 0.0772448 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 1 N - - CLDN19 Arg159Gln R159Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9660973 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LOC388630 Pro377Leu P377L not reviewed Insufficiently evaluated not reviewed unknown Array rs58366003 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NBPF10 Glu3480Ala E3480A not reviewed Insufficiently evaluated not reviewed unknown Array rs12128680 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBPF11 Asn107Ser N107S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAT2L2 Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array rs10913157 1223 10758 0.113683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF49 Ala154Gly A154G not reviewed Insufficiently evaluated not reviewed unknown Array rs12079481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABL2 Lys791Arg K791R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABL2 Lys806Arg K806R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABL2 Lys827Arg K827R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABL2 Lys909Arg K909R not reviewed Insufficiently evaluated not reviewed unknown Array rs17277288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IGFN1 Thr877Met T877M not reviewed Insufficiently evaluated not reviewed unknown Array rs11804558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGFN1 Glu1628Gly E1628G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGFN1 Lys1635Glu K1635E not reviewed Insufficiently evaluated not reviewed unknown Array rs6678538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGFN1 Ile1648Met I1648M not reviewed Insufficiently evaluated not reviewed unknown Array rs12758143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGFN1 Asn1677Asp N1677D not reviewed Insufficiently evaluated not reviewed unknown Array rs1722732 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IGFN1 Asp2658Gly D2658G not reviewed Insufficiently evaluated not reviewed unknown Array rs6688782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HHAT Cys123Arg C123R not reviewed Insufficiently evaluated not reviewed unknown Array rs34228541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HHAT Cys189Arg C189R not reviewed Insufficiently evaluated not reviewed unknown Array rs34228541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SMYD3 Lys13Asn K13N not reviewed Insufficiently evaluated not reviewed unknown Array rs7520453 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Thr3151Met T3151M not reviewed Insufficiently evaluated not reviewed unknown Array rs60268710 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5B Val3909Ile V3909I not reviewed Insufficiently evaluated not reviewed unknown Array rs59902608 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC5B Ala4404Gly A4404G not reviewed Insufficiently evaluated not reviewed unknown Array rs2943517 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - H3F3C His39Pro H39P not reviewed Insufficiently evaluated not reviewed unknown Array rs3759295 616 10758 0.0572597 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.922 - - 5 Y 1 N - - SRSF2IP Arg847His R847H not reviewed Insufficiently evaluated not reviewed unknown Array rs28930670 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR109A Arg311Cys R311C not reviewed Insufficiently evaluated not reviewed unknown Array rs7314976 43 10758 0.00399703 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.043 - - 8 Y 0 N - - FAM194B Gly495Ala G495A not reviewed Insufficiently evaluated not reviewed unknown Array rs41292939 228 3234 0.0705009 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM194B Tyr139His Y139H not reviewed Insufficiently evaluated not reviewed unknown Array rs28548352 423 3184 0.132852 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM194B Glu136Lys E136K not reviewed Insufficiently evaluated not reviewed unknown Array rs11272726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEM Val308Ala V308A not reviewed Insufficiently evaluated not reviewed unknown Array 195 1454 0.134113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR11H2 Lys105Thr K105T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR33 Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array rs17097918 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM189A1 Arg396Cys R396C not reviewed Insufficiently evaluated not reviewed unknown Array rs61736882 60 3234 0.0185529 9 0 9 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - FAM189A1 His375Arg H375R not reviewed Insufficiently evaluated not reviewed unknown Array rs34232112 2346 3234 0.725417 42 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM8A Arg567Trp R567W not reviewed Insufficiently evaluated not reviewed unknown Array rs3743887 1016 10754 0.0944765 13 0 14 0 0 - - - - - - - - - - - - - - - - 0.11 - - 7 Y 0 N - - IL21R Gly506Ser G506S not reviewed Insufficiently evaluated not reviewed unknown Array rs3093386 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BEAN1 Lys128Glu K128E not reviewed Insufficiently evaluated not reviewed unknown Array rs9928279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CES4A Ala355Thr A355T not reviewed Insufficiently evaluated not reviewed unknown Array rs3848290 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTU2 Pro430Leu P430L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744519 77 10696 0.00719895 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - FAM38A Arg1915Ser R1915S not reviewed Insufficiently evaluated not reviewed unknown Array rs13338527 11 3232 0.00340347 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARL17B Ala64Gly A64G not reviewed Insufficiently evaluated not reviewed unknown Array 288 6338 0.0454402 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - 1 - 1 N - - DNAH17 Met1986Val M1986V not reviewed Insufficiently evaluated not reviewed unknown Array rs34426129 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38B Arg1611Gln R1611Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2865121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF77 Ser80Gly S80G not reviewed Insufficiently evaluated not reviewed unknown Array rs56801248 37 3234 0.0114409 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Met430Val M430V not reviewed Insufficiently evaluated not reviewed unknown Array rs60931060 1133 10120 0.111957 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.133 - - 0 - 0 N - - PLIN4 Gly263Ser G263S not reviewed Insufficiently evaluated not reviewed unknown Array rs4807595 8957 9568 0.936141 4 0 7 0 0 - - - - - - - - - - - - - - - - 0.133 - - 2 - 0 N - - PLIN3 Leu107Ile L107I not reviewed Insufficiently evaluated not reviewed unknown Array rs11552104 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.573 - - -2 - 1 N - - MBD3L3 Gly124Ser G124S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF850 Ser709Tyr S709Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61386433 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATP5SL Arg15Cys R15C not reviewed Insufficiently evaluated not reviewed unknown Array rs2231938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRRM5 Cys437Arg C437R not reviewed Insufficiently evaluated not reviewed unknown Array rs10410000 386 3234 0.119357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CTU1 Glu203Gln E203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12983578 582 7800 0.0746154 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF611 Pro183Leu P183L not reviewed Insufficiently evaluated not reviewed unknown Array rs34846371 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF611 Pro183Thr P183T not reviewed Insufficiently evaluated not reviewed unknown Array rs4085565 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERLEC1 Val318Leu V318L not reviewed Insufficiently evaluated not reviewed unknown Array rs2287345 755 10758 0.0701803 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANKRD36 Pro273Ala P273A not reviewed Insufficiently evaluated not reviewed unknown Array rs62153044 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD36 Ala532Val A532V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD36 Asp1236Asn D1236N not reviewed Insufficiently evaluated not reviewed unknown Array rs6756986 592 3232 0.183168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ANKRD36B Lys1103Glu K1103E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD36B His986Arg H986R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD36B Asp520Asn D520N not reviewed Insufficiently evaluated not reviewed unknown Array rs13001324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD36B Arg261Pro R261P not reviewed Insufficiently evaluated not reviewed unknown Array 1196 4904 0.243883 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ANKRD36B Leu158Phe L158F not reviewed Insufficiently evaluated not reviewed unknown Array rs2922614 28 3234 0.00865801 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Ser467Asn S467N not reviewed Insufficiently evaluated not reviewed unknown Array rs13421193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Ser513Asn S513N not reviewed Insufficiently evaluated not reviewed unknown Array rs13421193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPP10 Ser521Asn S521N not reviewed Insufficiently evaluated not reviewed unknown Array rs13421193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLK1 Asn141Asp N141D not reviewed Insufficiently evaluated not reviewed unknown Array rs6735666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL6A3 Thr131Met T131M not reviewed Insufficiently evaluated not reviewed unknown Array rs34741387 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HSPA12B Glu220Lys E220K not reviewed Insufficiently evaluated not reviewed unknown Array rs61734308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPCPD1 Thr273Ile T273I not reviewed Insufficiently evaluated not reviewed unknown Array rs2273373 1113 10758 0.103458 17 0 18 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - PLK1S1 Ser470Leu S470L not reviewed Insufficiently evaluated not reviewed unknown Array rs34011504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLK1S1 Ser500Leu S500L not reviewed Insufficiently evaluated not reviewed unknown Array rs34011504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLK1S1 Ser603Leu S603L not reviewed Insufficiently evaluated not reviewed unknown Array rs34011504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASS4 Pro223Ser P223S not reviewed Insufficiently evaluated not reviewed unknown Array rs35031530 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASS4 Pro606Ser P606S not reviewed Insufficiently evaluated not reviewed unknown Array rs35031530 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMPRSS15 Ser308Phe S308F not reviewed Insufficiently evaluated not reviewed unknown Array rs34162864 164 10736 0.0152757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - GCAT Arg413Trp R413W not reviewed Insufficiently evaluated not reviewed unknown Array rs17856459 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 7 Y 2 N - - APOBEC3H Lys140Glu K140E not reviewed Insufficiently evaluated not reviewed unknown Array rs139300 12 12 1 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOBEC3H Asn140Asp N140D not reviewed Insufficiently evaluated not reviewed unknown Array rs139300 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRR5 Val266Met V266M not reviewed Insufficiently evaluated not reviewed unknown Array rs36082900 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOC100132146 Leu9Phe L9F not reviewed Insufficiently evaluated not reviewed unknown Array rs17079007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS50 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740485 103 10756 0.00957605 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITIH4 Leu761Pro L761P not reviewed Insufficiently evaluated not reviewed unknown Array rs2535621 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITIH4 Met684Ile M684I not reviewed Insufficiently evaluated not reviewed unknown Array rs2256734 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITIH4 Gln639Leu Q639L not reviewed Insufficiently evaluated not reviewed unknown Array rs2276814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASB14 Ile81Lys I81K not reviewed Insufficiently evaluated not reviewed unknown Array rs28515117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALG1L Ile179Thr I179T not reviewed Insufficiently evaluated not reviewed unknown Array rs3811679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ESYT3 Thr662Ser T662S not reviewed Insufficiently evaluated not reviewed unknown Array rs35537868 494 10422 0.0473997 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ARHGEF26 Leu60Phe L60F not reviewed Insufficiently evaluated not reviewed unknown Array rs59508481 362 9810 0.0369011 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF26 Leu60Pro L60P not reviewed Insufficiently evaluated not reviewed unknown Array rs12497267 8257 9808 0.841864 10 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RNF212 Ala219Asp A219D not reviewed Insufficiently evaluated not reviewed unknown Array rs616196 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COQ2 Val66Leu V66L not reviewed Insufficiently evaluated not reviewed unknown Array rs6818847 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TBCK Met408Ile M408I not reviewed Insufficiently evaluated not reviewed unknown Array rs34961213 11 118 0.0932203 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TBCK Met432Ile M432I not reviewed Insufficiently evaluated not reviewed unknown Array rs34961213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBCK Met471Ile M471I not reviewed Insufficiently evaluated not reviewed unknown Array rs34961213 1326 10758 0.123257 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TBCK Thr362Met T362M not reviewed Insufficiently evaluated not reviewed unknown Array rs34307452 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBCK Thr386Met T386M not reviewed Insufficiently evaluated not reviewed unknown Array rs34307452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBCK Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array rs34307452 332 10758 0.0308608 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - LOC100288276 Val182Ile V182I not reviewed Insufficiently evaluated not reviewed unknown Array rs7654865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LOC100288276 Lys171Ile K171I not reviewed Insufficiently evaluated not reviewed unknown Array rs12645490 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR17 Ala1176Thr A1176T not reviewed Insufficiently evaluated not reviewed unknown Array rs17625943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERVFRDE1 Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array rs55714642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HCP5 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array rs6905676 47 3234 0.0145331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CUL7 Gln897Arg Q897R not reviewed Insufficiently evaluated not reviewed unknown Array rs9381231 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - FAM188B Ser262Leu S262L not reviewed Insufficiently evaluated not reviewed unknown Array rs17159453 365 9970 0.0366098 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF736 His163Arg H163R not reviewed Insufficiently evaluated not reviewed unknown Array rs62623388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 His1671Arg H1671R not reviewed Insufficiently evaluated not reviewed unknown Array rs28463186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC12 Thr1723Ile T1723I not reviewed Insufficiently evaluated not reviewed unknown Array rs55638317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTAGE6P Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array 1172 8962 0.130774 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF705G Val236Ala V236A not reviewed Insufficiently evaluated not reviewed unknown Array rs9693671 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF705G Ser53Ala S53A not reviewed Insufficiently evaluated not reviewed unknown Array rs3989701 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF705G Gly47Arg G47R not reviewed Insufficiently evaluated not reviewed unknown Array rs3989698 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF705G Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array rs3989697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D4A Lys195Arg K195R not reviewed Insufficiently evaluated not reviewed unknown Array rs35197358 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLEC Thr3317Met T3317M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3327Met T3327M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3335Met T3335M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3349Met T3349M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3353Met T3353M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3376Met T3376M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Thr3486Met T3486M not reviewed Insufficiently evaluated not reviewed unknown Array rs34725742 250 10368 0.0241127 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD18A Tyr688Cys Y688C not reviewed Insufficiently evaluated not reviewed unknown Array rs2799163 42 116 0.362069 27 0 36 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 1 N - - ZCCHC6 Lys814Glu K814E not reviewed Insufficiently evaluated not reviewed unknown Array rs58050565 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCCHC6 Arg437Gln R437Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41310053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUSK Met325Ile M325I not reviewed Insufficiently evaluated not reviewed unknown Array rs2274419 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MUSK Met335Ile M335I not reviewed Insufficiently evaluated not reviewed unknown Array rs2274419 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - HDX Ala135Thr A135T not reviewed Insufficiently evaluated not reviewed unknown Array rs35653454 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRODH Trp77Stop W77X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - GRHL3 Glu566Lys E566K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AIM1L Phe525Ser F525S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AIM1L Leu524Ser L524S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ORC1 Met811Thr M811T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ORC1 Met816Thr M816T not reviewed Insufficiently evaluated not reviewed unknown Array rs34521609 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.18 Y - 2 - 1 N - - DISC1 Thr795Ala T795A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5B Leu2238Pro L2238P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HTR3A Arg329His R329H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HTR3A Arg350His R350H not reviewed Insufficiently evaluated not reviewed unknown Array 362 10758 0.0336494 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - HTR3A Arg382His R382H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDZRN4 Gly116Arg G116R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDIT3 Pro5Ala P5A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR109B Ile317Met I317M not reviewed Insufficiently evaluated not reviewed unknown Array rs2454727 2243 10704 0.209548 26 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - EDDM3B Leu5Val L5V not reviewed Insufficiently evaluated not reviewed unknown Array rs3827906 1209 10758 0.112381 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - JMJD7-PLA2G4B Gln890Arg Q890R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2CD4B Phe276Val F276V not reviewed Insufficiently evaluated not reviewed unknown Array rs8040712 4445 5006 0.887935 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2CD4B Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array rs8025811 1262 7766 0.162503 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - KBTBD13 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array rs2919358 27 54 0.5 16 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GOLGA6A Thr51Ser T51S not reviewed Insufficiently evaluated not reviewed unknown Array 139 10690 0.0130028 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLX4 Pro1677Ser P1677S not reviewed Insufficiently evaluated not reviewed unknown Array rs7196345 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - C17ORF97 Thr281Ala T281A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOC730755 Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRAPPC8 Asn74Ser N74S not reviewed Insufficiently evaluated not reviewed unknown Array rs34292533 140 10758 0.0130136 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPPR3 Thr531Ala T531A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLIN4 Ala668Val A668V not reviewed Insufficiently evaluated not reviewed unknown Array rs74182445 3624 10270 0.352872 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FLJ22184 Arg1025Pro R1025P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM221 Thr66Ala T66A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUGP2 Gln722Arg Q722R not reviewed Insufficiently evaluated not reviewed unknown Array rs34540303 249 10758 0.0231456 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PEPD Glu106Val E106V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - PEPD Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PRR24 Arg79Leu R79L not reviewed Insufficiently evaluated not reviewed unknown Array 940 3126 0.300704 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LOC646862 Pro232Ala P232A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD36 Ala898Asp A898D not reviewed Insufficiently evaluated not reviewed unknown Array 1962 3206 0.611978 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ANKRD36B Thr1003Met T1003M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SP110 Thr373Met T373M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HSPA12B Ala504Ser A504S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF117 Phe66Ser F66S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CASS4 Gln343His Q343H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - CASS4 Gln726His Q726H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBFOX2 His8Gln H8Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9607299 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYB5R3 Thr150Ser T150S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TDGF1 Arg95Gly R95G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRSS50 Gln75Pro Q75P not reviewed Insufficiently evaluated not reviewed unknown Array rs34788938 2430 10758 0.225878 18 0 21 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 1 N - - ARHGAP31 Ala1086Thr A1086T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744168 255 10270 0.0248296 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF79 Thr82Ile T82I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742013 119 9602 0.0123933 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGEF26 Phe203Ser F203S not reviewed Insufficiently evaluated not reviewed unknown Array rs13096373 1913 9484 0.201708 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LOC402160 Asp72Gly D72G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPEB2 Asp120Asn D120N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CWH43 Pro2Thr P2T not reviewed Insufficiently evaluated not reviewed unknown Array rs3747690 3669 10344 0.354698 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ADH7 Arg140His R140H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FREM3 Ile1919Thr I1919T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FREM3 Tyr1478Asn Y1478N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DCLK2 Pro765Ser P765S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCLK2 Pro765Arg P765R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PALLD Ser136Gly S136G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - C5ORF42 Ile2143Val I2143V not reviewed Insufficiently evaluated not reviewed unknown Array 556 10758 0.0516825 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM172A Ser85Asn S85N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM232 His191Gln H191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61732341 82 3226 0.0254185 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPARGC1B Arg266Trp R266W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPARGC1B Arg291Trp R291W not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPARGC1B Ser325Tyr S325Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPARGC1B Ser350Tyr S350Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TDP2 Asn89Ser N89S not reviewed Insufficiently evaluated not reviewed unknown Array rs61757564 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN3A2 Asn139Asp N139D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BTN3A2 Asn158Asp N158D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BTN2A1 Trp117Leu W117L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BTN2A1 Trp117Cys W117C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CUL7 Ala955Val A955V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - ORC3 Gln94Lys Q94K not reviewed Insufficiently evaluated not reviewed unknown Array rs2307365 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - C6ORF94 Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array rs6934118 49 3234 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IYD Cys265Tyr C265Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CTAGE15P Glu421Gly E421G not reviewed Insufficiently evaluated not reviewed unknown Array rs72611576 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSMD1 Asp2041His D2041H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM90A20 Pro159Leu P159L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NRBP2 Leu397Pro L397P not reviewed Insufficiently evaluated not reviewed unknown Array 350 10756 0.03254 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM75C2 Ser1035Arg S1035R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ODF2 Thr710Ser T710S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ODF2 Thr774Ser T774S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SRPX Lys96Arg K96R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZC4H2 Phe151Tyr F151Y not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM122C Gln192Arg Q192R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FIG4 Lys278Shift K278Shift pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 3 Y - - - Y 0 Y 3 - 2 - Y - - - - - Y 4 Y 3 N 1 0 This variant is predicted to cause a frameshift and may cause Charcot-Marie-Tooth Disease Type 4J in an autosomal recessive manner. Other variants in this gene which cause frameshift and premature termination have been implicated in causing this disease when compound heterozygous with another FIG4 variant. TGIF1 Pro83Shift P83Shift pathogenic Low clinical importance, Uncertain pathogenic other Array rs11571510 15 108 0.138889 14 0 14 1 1 3 Y - - 0 Y - - 4 Y 1 - Y - - - - Y Y 4 Y 3 N 0 0 Severe variants in this gene are associated with holoprosencephaly disorders when combined with loss-of-function variants in SHH. Haploinsufficiency was identified in some families with this condition. It is unclear how likely this variant is to occur in combination with an SHH variant, or what phenotypic effect the variant would have on its own. FLG Ser761Shift S761Shift pathogenic Moderate clinical importance, Uncertain pathogenic other Array 1 126 0.00793651 1 0 1 1 1 3 Y - - - - 0 Y 3 Y 1 - Y - - - - Y Y 4 Y 4 N 1 0 Based on other severe variants in the same gene, this variant is likely to cause ichthyosis vulgaris when homozygous or compound heterozygous with another severe variant. Some authors report the variant has incomplete dominance, with heterozygotes generally having a very mild phenotype: some palmar hyperlinearity, keratosis pilaris and, in some cases fine scale. ELN Gln253Shift Q253Shift pathogenic High clinical importance, Uncertain pathogenic dominant Array 2 118 0.0169492 2 0 2 1 1 3 Y - - 0 Y 0 Y 4 Y 4 Y Y - - - - Y Y 4 Y 4 N 2 0 This variant is a single base deletion in exon 15 of ELN (elastin) which predicts a frameshift starting at amino acid 253. Other severe variants in this gene have been reported to cause a congenital heart defect (supravalvular aortic stenosis) and Cutis Laxa; based on these reports, this variant would be predicted to have the same effect. TNFRSF14 Cys150Stop C150X not reviewed Insufficiently evaluated not reviewed unknown Array rs2257763 78 124 0.629032 46 0 67 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PADI6 Val343Shift V343Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10709483 2 128 0.015625 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC104455 Glu95Shift E95Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59025460 79 128 0.617188 46 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC5A9 Glu611Stop E611X not reviewed Insufficiently evaluated not reviewed unknown Array rs850763 20 128 0.15625 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CDCP2 Met409Shift M409Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs36013100 62 128 0.484375 48 0 66 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF326 Ile265Shift I265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDE4DIP Gln1665Shift Q1665Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11341221 40 122 0.327869 36 0 36 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDE4DIP Ala487Shift A487Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11295415 36 122 0.295082 33 0 33 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEC22B Arg131Stop R131X not reviewed Insufficiently evaluated not reviewed unknown Array rs2794041 4053 10292 0.393801 41 0 41 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - GBA Lys144Arg K144R not reviewed Insufficiently evaluated not reviewed unknown Array rs28445596 78 126 0.619048 66 0 92 0 0 - - - - - Y - Y - - - - Y - - - - Y Y -3 - 2 N - - KIAA1751 Stop763Gln X763Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28548017 7885 9686 0.814062 54 0 88 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - VN1R5 Stop46Gln X46Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1778540 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR1S1 Stop326Trp X326W not reviewed Insufficiently evaluated not reviewed unknown Array rs7103033 52 126 0.412698 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TSGA10IP Stop21Arg X21R not reviewed Insufficiently evaluated not reviewed unknown Array rs9795469 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACTN3 Stop577Arg X577R not reviewed Insufficiently evaluated not reviewed unknown Array rs1815739 1 0 1 1 1 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TREH Stop578Ser X578S not reviewed Insufficiently evaluated not reviewed unknown Array rs6589669 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR8G1 Stop259Tyr X259Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4268525 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LEPREL2 Stop685Gln X685Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1129649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OAS2 Stop720Trp X720W not reviewed Insufficiently evaluated not reviewed unknown Array rs15895 8068 10758 0.749954 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SYNM Stop272Arg X272R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305445 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD1L2 Stop2315Ser X2315S not reviewed Insufficiently evaluated not reviewed unknown Array rs8054182 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF443 Stop672Leu X672L not reviewed Insufficiently evaluated not reviewed unknown Array rs28559848 2762 10734 0.257313 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC123 Stop784Gln X784Q not reviewed Insufficiently evaluated not reviewed unknown Array rs745961 2933 10758 0.272634 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NLRP8 Stop1049Tyr X1049Y not reviewed Insufficiently evaluated not reviewed unknown Array rs306457 7882 10758 0.732664 52 0 76 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NAT8B Stop168Gln X168Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4852974 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - METTL8 Stop379Arg X379R not reviewed Insufficiently evaluated not reviewed unknown Array rs10205459 128 128 1 53 0 106 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TTN Stop13350Tyr X13350Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4145333 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Stop13475Tyr X13475Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4145333 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Stop13542Tyr X13542Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4145333 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Stop19847Tyr X19847Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4145333 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - GCNT7 Stop65Gln X65Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6024911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GABRR3 Stop205Tyr X205Y not reviewed Insufficiently evaluated not reviewed unknown Array rs832032 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GBA3 Stop149Tyr X149Y not reviewed Insufficiently evaluated not reviewed unknown Array rs358231 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GBA3 Stop456Tyr X456Y not reviewed Insufficiently evaluated not reviewed unknown Array rs358231 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADH1C Stop78Gly X78G not reviewed Insufficiently evaluated not reviewed unknown Array rs283413 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRSS48 Stop329Glu X329E not reviewed Insufficiently evaluated not reviewed unknown Array rs2407221 107 128 0.835938 49 0 88 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TAAR9 Stop61Lys X61K not reviewed Insufficiently evaluated not reviewed unknown Array rs2842899 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM120A Stop44Gln X44Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4732519 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SSPO Stop3731Arg X3731R not reviewed Insufficiently evaluated not reviewed unknown Array rs12674102 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1161 Stop23Tyr X23Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4879782 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLCA3P Tyr84Stop Y84X not reviewed Insufficiently evaluated not reviewed unknown Array rs2292830 53 126 0.420635 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CDH23 Thr1207Ala T1207A not reviewed Insufficiently evaluated not reviewed unknown Array rs41281314 479 10126 0.047304 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CDH23 Asn1349Asp N1349D not reviewed Insufficiently evaluated not reviewed unknown Array rs1227065 8360 10280 0.81323 55 0 94 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - CDH23 Ala1572Thr A1572T not reviewed Insufficiently evaluated not reviewed unknown Array rs1227051 7903 10700 0.738598 51 0 86 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - CDH23 Thr1996Ser T1996S not reviewed Insufficiently evaluated not reviewed unknown Array rs11592462 4280 10340 0.413927 26 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - CDH23 Glu2041Lys E2041K not reviewed Insufficiently evaluated not reviewed unknown Array rs10466026 2797 10736 0.260525 31 0 34 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - CDH23 Arg2355Gln R2355Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4747194 2588 10134 0.255378 32 0 35 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - CDH23 Pro2377Leu P2377L not reviewed Insufficiently evaluated not reviewed unknown Array rs4747195 2494 10064 0.247814 32 0 35 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - DQ596646 Ser88Stop S88X not reviewed Insufficiently evaluated not reviewed unknown Array rs1681724 8 112 0.0714286 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - RASGRP2 Ser66Stop S66X not reviewed Insufficiently evaluated not reviewed unknown Array rs2073797 87 120 0.725 41 0 72 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ALG9 Val289Ile V289I not reviewed Insufficiently evaluated not reviewed unknown Array rs10502151 2557 9732 0.262741 28 0 33 0 0 3 Y - - - - - - - - - - Y - - - 0.907 Y Y -4 - 3 N - - NM_001080841 Arg102Stop R102X not reviewed Insufficiently evaluated not reviewed unknown Array rs59278647 21 110 0.190909 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - FMN1 Phe169Ser F169S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740911 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 5 Y 3 N - - BC089450 Trp23Stop W23X not reviewed Insufficiently evaluated not reviewed unknown Array rs1048149 34 128 0.265625 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MYO15A Cys1975Arg C1975R not reviewed Insufficiently evaluated not reviewed unknown Array rs854777 93 128 0.726562 48 0 81 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 1 N - - MYO15A Gly2016Arg G2016R not reviewed Insufficiently evaluated not reviewed unknown Array rs2272571 22 128 0.171875 19 0 20 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - TTN Ala19839Pro A19839P not reviewed Insufficiently evaluated not reviewed unknown Array rs4145333 128 128 1 52 0 104 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - CXCR2P1 Tyr56Stop Y56X not reviewed Insufficiently evaluated not reviewed unknown Array rs60743553 12 128 0.09375 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - COL4A4 Ser1400Pro S1400P not reviewed Insufficiently evaluated not reviewed unknown Array rs3752895 4528 9662 0.46864 39 0 55 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - XPC Gln939Lys Q939K not reviewed Insufficiently evaluated not reviewed unknown Array rs2228001 6260 9742 0.642579 27 0 39 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - DOK7 His113Pro H113P not reviewed Insufficiently evaluated not reviewed unknown Array rs6811856 1489 10570 0.14087 14 0 18 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - DOK7 Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6831659 1324 10574 0.125213 8 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - DOK7 Thr137Ile T137I not reviewed Insufficiently evaluated not reviewed unknown Array rs6850908 1691 10704 0.157978 14 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - FRAS1 Tyr3383Asp Y3383D not reviewed Insufficiently evaluated not reviewed unknown Array rs35933858 10 128 0.078125 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - HSD17B4 Ser66Leu S66L not reviewed Insufficiently evaluated not reviewed unknown Array rs2560722 269 10756 0.0250093 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ALDH7A1 Lys411Gln K411Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12514417 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - AK309286 Gln191Stop Q191X not reviewed Insufficiently evaluated not reviewed unknown Array rs9393887 35 128 0.273438 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - HLA-H Glu47Lys E47K not reviewed Insufficiently evaluated not reviewed unknown Array rs62389357 4 66 0.0606061 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-H Gln61Arg Q61R not reviewed Insufficiently evaluated not reviewed unknown Array rs2734945 30 104 0.288462 21 0 28 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-H Arg100Cys R100C not reviewed Insufficiently evaluated not reviewed unknown Array rs1611613 4 102 0.0392157 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - HLA-H Leu145Arg L145R not reviewed Insufficiently evaluated not reviewed unknown Array rs1611615 24 82 0.292683 18 0 23 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - HLA-H Ala147Val A147V not reviewed Insufficiently evaluated not reviewed unknown Array rs1611616 25 90 0.277778 19 0 24 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - HLA-H Gly181Stop G181X not reviewed Insufficiently evaluated not reviewed unknown Array rs55682221 10 88 0.113636 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 3 N - - HLA-H Ser182Trp S182W not reviewed Insufficiently evaluated not reviewed unknown Array rs1611617 40 102 0.392157 20 0 26 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - HLA-H Cys238Ser C238S not reviewed Insufficiently evaluated not reviewed unknown Array rs7769501 86 118 0.728814 45 0 74 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - NM_001004349 Trp144Stop W144X not reviewed Insufficiently evaluated not reviewed unknown Array rs2023477 47 128 0.367188 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - HLA-DPB2 Ser148Leu S148L not reviewed Insufficiently evaluated not reviewed unknown Array rs3117035 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM67 Ile594Val I594V not reviewed Insufficiently evaluated not reviewed unknown Array rs3134031 91 128 0.710938 49 0 81 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - RECQL4 Arg766Gly R766G not reviewed Insufficiently evaluated not reviewed unknown Array rs11362176 18 4198 0.00428776 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - WASF4 Gln43Stop Q43X not reviewed Insufficiently evaluated not reviewed unknown Array rs723119 48 90 0.533333 33 0 55 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - C1ORF170 Val663Ala V663A not reviewed Insufficiently evaluated not reviewed unknown Array rs7417106 86 122 0.704918 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF170 Glu579Gln E579Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13302979 68 118 0.576271 38 0 57 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF170 Gln406Glu Q406E not reviewed Insufficiently evaluated not reviewed unknown Array rs13303368 70 124 0.564516 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF170 Ser398Gly S398G not reviewed Insufficiently evaluated not reviewed unknown Array rs13302983 103 108 0.953704 44 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK001208 Ile199Leu I199L not reviewed Insufficiently evaluated not reviewed unknown Array rs262688 17 128 0.132812 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_001127577 Gly36Arg G36R not reviewed Insufficiently evaluated not reviewed unknown Array rs2843130 15 128 0.117188 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TNFRSF14 Arg253Cys R253C not reviewed Insufficiently evaluated not reviewed unknown Array rs2234161 83 126 0.65873 47 0 72 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TNFRSF14 Ala165Glu A165E not reviewed Insufficiently evaluated not reviewed unknown Array rs2281852 79 128 0.617188 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MMEL1 Met509Thr M509T not reviewed Insufficiently evaluated not reviewed unknown Array rs3748816 69 128 0.539062 41 0 55 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF167 Trp59Arg W59R not reviewed Insufficiently evaluated not reviewed unknown Array rs6699881 54 90 0.6 29 0 48 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF167 Arg77Cys R77C not reviewed Insufficiently evaluated not reviewed unknown Array rs7538516 66 126 0.52381 41 0 62 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C1ORF167 Ser125Ile S125I not reviewed Insufficiently evaluated not reviewed unknown Array rs6697244 54 98 0.55102 31 0 49 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C1ORF167 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array rs4846043 52 100 0.52 32 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF167 Trp232Arg W232R not reviewed Insufficiently evaluated not reviewed unknown Array rs4846044 90 110 0.818182 40 0 72 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C1ORF167 Arg728Gly R728G not reviewed Insufficiently evaluated not reviewed unknown Array rs868014 93 106 0.877358 44 0 79 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRAMEF18 Ser358Leu S358L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRAMEF18 Trp246Arg W246R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAMEF18 Asp237Glu D237E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRAMEF18 Ser235Phe S235F not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_201628 Ala706Thr A706T not reviewed Insufficiently evaluated not reviewed unknown Array rs10803354 3906 10750 0.363349 34 0 50 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AK307907 Thr264Ala T264A not reviewed Insufficiently evaluated not reviewed unknown Array rs9286084 4 4 1 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK307907 Lys254Glu K254E not reviewed Insufficiently evaluated not reviewed unknown Array rs7798 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK307907 Gly237Ser G237S not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK307907 Arg77Gly R77G not reviewed Insufficiently evaluated not reviewed unknown Array rs2761533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKR7L Ala77Thr A77T not reviewed Insufficiently evaluated not reviewed unknown Array rs2235795 64 122 0.52459 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OSCP1 Gly317Arg G317R not reviewed Insufficiently evaluated not reviewed unknown Array rs2275477 2696 10758 0.250604 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OSCP1 Thr141Ala T141A not reviewed Insufficiently evaluated not reviewed unknown Array rs34409118 2202 10758 0.204685 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KNCN Ser77Pro S77P not reviewed Insufficiently evaluated not reviewed unknown Array rs10890404 2212 3234 0.683983 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TAL1 Asn68Ser N68S not reviewed Insufficiently evaluated not reviewed unknown Array rs927462 88 88 1 35 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC5A9 Ile287Met I287M not reviewed Insufficiently evaluated not reviewed unknown Array rs212991 128 128 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NR_002314 Glu155Ala E155A not reviewed Insufficiently evaluated not reviewed unknown Array rs1288598 39 120 0.325 25 0 36 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NR_002314 Thr21Ala T21A not reviewed Insufficiently evaluated not reviewed unknown Array rs1288599 10 44 0.227273 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C1ORF175 Val1096Asp V1096D not reviewed Insufficiently evaluated not reviewed unknown Array rs646356 116 128 0.90625 52 0 96 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PIN1P1 Arg88Trp R88W not reviewed Insufficiently evaluated not reviewed unknown Array rs11802766 10 126 0.0793651 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - IFI44L His34Arg H34R not reviewed Insufficiently evaluated not reviewed unknown Array rs273259 63 128 0.492188 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1107 Asn815Ser N815S not reviewed Insufficiently evaluated not reviewed unknown Array rs560389 109 128 0.851562 50 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1107 Thr918Asn T918N not reviewed Insufficiently evaluated not reviewed unknown Array rs565156 123 124 0.991935 50 0 99 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRMT6 Ala135Val A135V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232016 16 128 0.125 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NTNG2 Glu23Ala E23A not reviewed Insufficiently evaluated not reviewed unknown Array rs480392 53 0 97 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FNDC7 Ser76Asn S76N not reviewed Insufficiently evaluated not reviewed unknown Array rs11582005 22 126 0.174603 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FNDC7 Val120Ala V120A not reviewed Insufficiently evaluated not reviewed unknown Array rs4494160 79 128 0.617188 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPSM2 Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41279678 15 126 0.119048 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRGAP2 Cys42Arg C42R not reviewed Insufficiently evaluated not reviewed unknown Array rs2289361 70 78 0.897436 35 0 64 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SRGAP2 His72Arg H72R not reviewed Insufficiently evaluated not reviewed unknown Array rs61806690 17 18 0.944444 10 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC071797 His53Asn H53N not reviewed Insufficiently evaluated not reviewed unknown Array rs4118755 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC071797 Tyr103Asn Y103N not reviewed Insufficiently evaluated not reviewed unknown Array rs61815368 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC071797 Leu126Ser L126S not reviewed Insufficiently evaluated not reviewed unknown Array rs61815369 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GNRHR2 Arg51Gly R51G not reviewed Insufficiently evaluated not reviewed unknown Array rs41302087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - S100A7L2 Asn42Asp N42D not reviewed Insufficiently evaluated not reviewed unknown Array rs61743588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - MSTO1 Leu7Phe L7F not reviewed Insufficiently evaluated not reviewed unknown Array rs2002356 30 128 0.234375 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FMO6P Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array rs2272797 22 128 0.171875 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FMO6P Met175Val M175V not reviewed Insufficiently evaluated not reviewed unknown Array rs7889839 23 128 0.179688 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRRC2C Ala906Thr A906T not reviewed Insufficiently evaluated not reviewed unknown Array rs760644 54 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRRC2C Ser1624Cys S1624C not reviewed Insufficiently evaluated not reviewed unknown Array rs235468 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK124464 Thr32Met T32M not reviewed Insufficiently evaluated not reviewed unknown Array rs964993 32 128 0.25 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DQ584886 Glu72Gly E72G not reviewed Insufficiently evaluated not reviewed unknown Array rs3843273 28 128 0.21875 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CFHR4 Glu125Asp E125D not reviewed Insufficiently evaluated not reviewed unknown Array rs10801578 126 126 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CFHR4 Asn210Ser N210S not reviewed Insufficiently evaluated not reviewed unknown Array rs7417769 59 104 0.567308 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR621810 Arg158Cys R158C not reviewed Insufficiently evaluated not reviewed unknown Array rs1053592 53 128 0.414062 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PPFIA4 Arg49Gln R49Q not reviewed Insufficiently evaluated not reviewed unknown Array rs782800 57 128 0.445312 36 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PPFIA4 Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array rs10920551 22 126 0.174603 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PPFIA4 Arg160Pro R160P not reviewed Insufficiently evaluated not reviewed unknown Array rs61821060 112 112 1 47 0 94 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PPFIA4 Ala950Ser A950S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732315 1209 9748 0.124025 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FMN2 Arg1611His R1611H not reviewed Insufficiently evaluated not reviewed unknown Array rs3795677 45 128 0.351562 35 0 41 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - VN1R5 Arg349Cys R349C not reviewed Insufficiently evaluated not reviewed unknown Array rs41308154 33 128 0.257812 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C10ORF108 Gly63Arg G63R not reviewed Insufficiently evaluated not reviewed unknown Array rs10904535 77 128 0.601562 39 0 61 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IDI2 Stop228Cys X228C not reviewed Insufficiently evaluated not reviewed unknown Array rs41314629 712 10758 0.0661833 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK097474 Ala16Pro A16P not reviewed Insufficiently evaluated not reviewed unknown Array rs7086568 98 128 0.765625 47 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC129979 Val20Ile V20I not reviewed Insufficiently evaluated not reviewed unknown Array rs10904313 77 128 0.601562 44 0 64 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC129979 Tyr34His Y34H not reviewed Insufficiently evaluated not reviewed unknown Array rs313492 128 128 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ASB13 Asp111Asn D111N not reviewed Insufficiently evaluated not reviewed unknown Array rs1132293 29 128 0.226562 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ASB13 Val26Met V26M not reviewed Insufficiently evaluated not reviewed unknown Array rs61225117 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_207423 Ser57Arg S57R not reviewed Insufficiently evaluated not reviewed unknown Array rs501764 82 96 0.854167 37 0 65 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_207423 His7Arg H7R not reviewed Insufficiently evaluated not reviewed unknown Array rs485411 95 124 0.766129 48 0 79 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DQ589481 Ser73Cys S73C not reviewed Insufficiently evaluated not reviewed unknown Array rs4006909 14 100 0.14 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DQ575272 Trp15Arg W15R not reviewed Insufficiently evaluated not reviewed unknown Array rs61839476 11 38 0.289474 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DQ575272 Leu142Pro L142P not reviewed Insufficiently evaluated not reviewed unknown Array rs58883526 32 76 0.421053 14 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF485 Ala213Thr A213T not reviewed Insufficiently evaluated not reviewed unknown Array rs12354886 26 128 0.203125 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HNRNPA3P1 His20Arg H20R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750724 51 118 0.432203 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CTGLF9P Val485Met V485M not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC047597 Arg69Leu R69L not reviewed Insufficiently evaluated not reviewed unknown Array rs17773851 33 128 0.257812 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC047597 Tyr4His Y4H not reviewed Insufficiently evaluated not reviewed unknown Array rs34110351 33 128 0.257812 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AL157440 Gly92Glu G92E not reviewed Insufficiently evaluated not reviewed unknown Array rs2279602 61 128 0.476562 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PIPSL Ser352Gly S352G not reviewed Insufficiently evaluated not reviewed unknown Array rs11815169 32 128 0.25 21 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RBM20 Glu178Gln E178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs942077 87 126 0.690476 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PNLIPRP2 Ile360Val I360V not reviewed Insufficiently evaluated not reviewed unknown Array rs4751996 5296 9536 0.555369 43 0 58 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MGMT Glu30Lys E30K not reviewed Insufficiently evaluated not reviewed unknown Array rs2020893 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - PPP2R2D Gly325Ser G325S not reviewed Insufficiently evaluated not reviewed unknown Array rs34473884 1962 10458 0.187608 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF92 Ser701Gly S701G not reviewed Insufficiently evaluated not reviewed unknown Array rs2254419 101 128 0.789062 49 0 80 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C10ORF92 Ala492Thr A492T not reviewed Insufficiently evaluated not reviewed unknown Array rs4880433 38 128 0.296875 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF93 Ser206Asn S206N not reviewed Insufficiently evaluated not reviewed unknown Array rs12781609 50 128 0.390625 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GPR123 Gly55Ser G55S not reviewed Insufficiently evaluated not reviewed unknown Array rs4271313 4521 7794 0.580062 46 0 64 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR123 Arg60Gly R60G not reviewed Insufficiently evaluated not reviewed unknown Array rs4486541 4497 7792 0.57713 44 0 61 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPR123 Ala218Pro A218P not reviewed Insufficiently evaluated not reviewed unknown Array rs4838684 4149 7754 0.535079 35 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPR123 Arg539Gly R539G not reviewed Insufficiently evaluated not reviewed unknown Array rs10776692 5641 10154 0.555545 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK160367 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743181 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK160367 Asp257Glu D257E not reviewed Insufficiently evaluated not reviewed unknown Array rs731947 73 108 0.675926 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK160367 Met356Val M356V not reviewed Insufficiently evaluated not reviewed unknown Array rs2492654 100 122 0.819672 51 0 83 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PHRF1 Val1449Ala V1449A not reviewed Insufficiently evaluated not reviewed unknown Array rs11246212 99 124 0.798387 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR591411 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array rs9440 58 100 0.58 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP5-4 Phe112Cys F112C not reviewed Insufficiently evaluated not reviewed unknown Array rs6578597 2323 3232 0.71875 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001042376 Leu144Pro L144P not reviewed Insufficiently evaluated not reviewed unknown Array rs10770125 2902 8400 0.345476 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C11ORF36 Ser135Phe S135F not reviewed Insufficiently evaluated not reviewed unknown Array rs11026004 65 128 0.507812 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C11ORF36 Gly142Val G142V not reviewed Insufficiently evaluated not reviewed unknown Array rs12280457 63 126 0.5 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AB290171 Phe95Leu F95L not reviewed Insufficiently evaluated not reviewed unknown Array rs11825154 6 126 0.047619 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB290171 Val428Met V428M not reviewed Insufficiently evaluated not reviewed unknown Array rs11606889 27 128 0.210938 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB290171 His915Tyr H915Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11040920 7 126 0.0555556 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GVINP1 Leu621Pro L621P not reviewed Insufficiently evaluated not reviewed unknown Array rs12284429 69 128 0.539062 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GVINP1 Met483Val M483V not reviewed Insufficiently evaluated not reviewed unknown Array rs7102825 81 126 0.642857 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GVINP1 Asp321Asn D321N not reviewed Insufficiently evaluated not reviewed unknown Array rs12223353 50 128 0.390625 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC068088 Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array rs11517718 52 128 0.40625 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CSNK2A1 Thr387Ala T387A not reviewed Insufficiently evaluated not reviewed unknown Array rs7948121 92 96 0.958333 38 0 73 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CSNK2A1 Ser287Arg S287R not reviewed Insufficiently evaluated not reviewed unknown Array rs1056951 122 126 0.968254 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSNK2A1 Phe248Val F248V not reviewed Insufficiently evaluated not reviewed unknown Array rs4243927 120 124 0.967742 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSNK2A1 Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array rs2071461 72 128 0.5625 42 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CSNK2A1 Arg217Ser R217S not reviewed Insufficiently evaluated not reviewed unknown Array rs2896586 124 128 0.96875 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSNK2A1 Leu128Phe L128F not reviewed Insufficiently evaluated not reviewed unknown Array rs2896585 124 128 0.96875 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUCB2 Ser303Asn S303N not reviewed Insufficiently evaluated not reviewed unknown Array rs2521998 9423 9424 0.999894 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OTOG Ala127Val A127V not reviewed Insufficiently evaluated not reviewed unknown Array rs7936324 7 128 0.0546875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OTOG Pro144Leu P144L not reviewed Insufficiently evaluated not reviewed unknown Array rs7936354 7 128 0.0546875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OTOG Ala381Pro A381P not reviewed Insufficiently evaluated not reviewed unknown Array rs7934079 104 128 0.8125 53 0 93 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OTOG Pro653Leu P653L not reviewed Insufficiently evaluated not reviewed unknown Array rs2041028 50 126 0.396825 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OTOG Thr953Met T953M not reviewed Insufficiently evaluated not reviewed unknown Array rs7111528 46 128 0.359375 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SAA1 Thr77Ser T77S not reviewed Insufficiently evaluated not reviewed unknown Array rs1671926 126 126 1 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM180B Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array rs4486587 3193 3234 0.987322 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC142657 Cys108Arg C108R not reviewed Insufficiently evaluated not reviewed unknown Array rs7939515 54 124 0.435484 16 0 29 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC142657 Ala328Ser A328S not reviewed Insufficiently evaluated not reviewed unknown Array rs7115673 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DQ893983 Leu153Val L153V not reviewed Insufficiently evaluated not reviewed unknown Array rs948060 101 128 0.789062 49 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DQ893983 Arg26Gly R26G not reviewed Insufficiently evaluated not reviewed unknown Array rs4963245 23 128 0.179688 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RASGRP2 Gly117Ser G117S not reviewed Insufficiently evaluated not reviewed unknown Array rs2904961 108 120 0.9 47 0 86 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR609936 Cys241Gly C241G not reviewed Insufficiently evaluated not reviewed unknown Array rs3953797 37 118 0.313559 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SLC22A20 Arg450Leu R450L not reviewed Insufficiently evaluated not reviewed unknown Array rs2904982 113 128 0.882812 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_138368 Leu154Phe L154F not reviewed Insufficiently evaluated not reviewed unknown Array rs12146493 3447 9900 0.348182 29 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_138368 Gly113Val G113V not reviewed Insufficiently evaluated not reviewed unknown Array rs12362011 1031 9232 0.111677 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C11ORF68 Gln154Arg Q154R not reviewed Insufficiently evaluated not reviewed unknown Array rs7947504 104 124 0.83871 48 0 84 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TSGA10IP Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array rs565921 1154 9876 0.116849 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ACTN3 Cys627Arg C627R not reviewed Insufficiently evaluated not reviewed unknown Array rs618838 6433 10090 0.637562 31 0 45 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ACTN3 Gln775Arg Q775R not reviewed Insufficiently evaluated not reviewed unknown Array rs540874 6590 10444 0.630984 43 0 64 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC110365 Gly76Arg G76R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC110365 Ala75Thr A75T not reviewed Insufficiently evaluated not reviewed unknown Array 1 18 0.0555556 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC110365 Phe29Leu F29L not reviewed Insufficiently evaluated not reviewed unknown Array rs7129283 2 10 0.2 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 0 N - - AL832797 His13Arg H13R not reviewed Insufficiently evaluated not reviewed unknown Array rs380126 110 128 0.859375 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AL832797 Ser35Leu S35L not reviewed Insufficiently evaluated not reviewed unknown Array rs433640 93 128 0.726562 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BX647206 Lys214Asn K214N not reviewed Insufficiently evaluated not reviewed unknown Array rs657339 1929 3234 0.596475 44 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - B3GNT1 Leu316Trp L316W not reviewed Insufficiently evaluated not reviewed unknown Array rs56037330 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CASP5 Leu318Val L318V not reviewed Insufficiently evaluated not reviewed unknown Array rs523104 58 128 0.453125 37 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CASP5 Thr90Ala T90A not reviewed Insufficiently evaluated not reviewed unknown Array rs507879 61 128 0.476562 39 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CWF19L2 His289Tyr H289Y not reviewed Insufficiently evaluated not reviewed unknown Array rs659040 21 128 0.164062 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VPS11 Lys888Arg K888R not reviewed Insufficiently evaluated not reviewed unknown Array rs15818 56 128 0.4375 34 0 48 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CCDC153 Arg15His R15H not reviewed Insufficiently evaluated not reviewed unknown Array rs2301574 39 128 0.304688 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK056228 Arg16Gln R16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7306401 120 122 0.983607 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RPL13P5 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array rs2269359 51 128 0.398438 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RPL13P5 Asp144Glu D144E not reviewed Insufficiently evaluated not reviewed unknown Array rs12817264 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NANOGP1 Glu191Gln E191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61925372 18 22 0.818182 11 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DDX11 Leu187Pro L187P not reviewed Insufficiently evaluated not reviewed unknown Array rs2536755 1 46 0.0217391 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DDX11 Val272Met V272M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - BC111733 Pro33His P33H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EU095394 Gly136Asp G136D not reviewed Insufficiently evaluated not reviewed unknown Array rs526680 58 128 0.453125 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_006611 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array rs2168749 43 128 0.335938 22 0 30 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_006611 Phe110Tyr F110Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2682484 111 126 0.880952 50 0 91 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRB2 Gln212Arg Q212R not reviewed Insufficiently evaluated not reviewed unknown Array rs34305575 19 106 0.179245 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001080502 His1375Gln H1375Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7968684 31 56 0.553571 18 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001080502 Phe1040Tyr F1040Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2536839 47 88 0.534091 24 0 39 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001080502 Ile1024Leu I1024L not reviewed Insufficiently evaluated not reviewed unknown Array rs61918729 6 80 0.075 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - NM_001080502 Ser789Leu S789L not reviewed Insufficiently evaluated not reviewed unknown Array rs11051266 17 92 0.184783 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - NM_001080502 Leu587Val L587V not reviewed Insufficiently evaluated not reviewed unknown Array rs12309295 61 104 0.586538 32 0 49 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 1 N - - NM_001080502 Val457Leu V457L not reviewed Insufficiently evaluated not reviewed unknown Array rs4082530 62 104 0.596154 31 0 48 0 0 - - - - - - - - - - - - - - - - 0.817 - - 0 - 0 N - - NM_001080502 Asn355Ser N355S not reviewed Insufficiently evaluated not reviewed unknown Array rs11051274 22 102 0.215686 11 0 14 0 0 - - - - - - - - - - - - - - - - 0.886 - - 0 - 1 N - - NM_001080502 Thr211Met T211M not reviewed Insufficiently evaluated not reviewed unknown Array rs7971718 17 112 0.151786 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 1 N - - NM_001080502 Arg153Trp R153W not reviewed Insufficiently evaluated not reviewed unknown Array rs11502782 23 124 0.185484 14 0 17 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - DDN Glu607Gly E607G not reviewed Insufficiently evaluated not reviewed unknown Array rs10783299 52 128 0.40625 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_020941 Ser681Pro S681P not reviewed Insufficiently evaluated not reviewed unknown Array rs3813526 30 124 0.241935 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC126393 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1902767 115 128 0.898438 54 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK096472 Tyr124Phe Y124F not reviewed Insufficiently evaluated not reviewed unknown Array rs12368925 46 128 0.359375 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AK094231 Arg17His R17H not reviewed Insufficiently evaluated not reviewed unknown Array rs10783816 40 114 0.350877 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - STAC3 Gly80Arg G80R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739642 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBC1D30 Val475Ile V475I not reviewed Insufficiently evaluated not reviewed unknown Array rs939875 40 128 0.3125 23 0 40 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C12ORF64 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11836060 2101 10758 0.195297 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF64 Ile93Val I93V not reviewed Insufficiently evaluated not reviewed unknown Array rs2034528 9899 10600 0.933868 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C12ORF64 Leu144Phe L144F not reviewed Insufficiently evaluated not reviewed unknown Array rs11114416 2059 10738 0.191749 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C12ORF64 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs1551118 7688 10732 0.716362 41 0 70 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX747640 Arg15Gly R15G not reviewed Insufficiently evaluated not reviewed unknown Array rs7954559 15 112 0.133929 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC064342 Ala140Val A140V not reviewed Insufficiently evaluated not reviewed unknown Array rs11111817 48 128 0.375 31 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RAB35 Leu193Phe L193F not reviewed Insufficiently evaluated not reviewed unknown Array rs1054631 16 128 0.125 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001083900 Ile480Val I480V not reviewed Insufficiently evaluated not reviewed unknown Array rs10846559 107 128 0.835938 51 0 91 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001083900 Leu1631Val L1631V not reviewed Insufficiently evaluated not reviewed unknown Array rs4930729 108 126 0.857143 48 0 89 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001083900 Asp1767Glu D1767E not reviewed Insufficiently evaluated not reviewed unknown Array rs7969937 19 128 0.148438 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_001083900 Asp3513Asn D3513N not reviewed Insufficiently evaluated not reviewed unknown Array rs61740383 8 128 0.0625 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001083900 Arg4352Cys R4352C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AL831921 Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array rs4272850 40 128 0.3125 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EP400NL His362Tyr H362Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34521142 465 3234 0.143785 28 0 37 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - AK123118 Pro31His P31H not reviewed Insufficiently evaluated not reviewed unknown Array rs28561974 70 128 0.546875 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NBEA Ile2498Val I2498V not reviewed Insufficiently evaluated not reviewed unknown Array rs11538677 745 9760 0.076332 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AK057244 Val653Phe V653F not reviewed Insufficiently evaluated not reviewed unknown Array rs1536207 46 128 0.359375 28 0 36 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 1 N - - AK057244 Glu178Lys E178K not reviewed Insufficiently evaluated not reviewed unknown Array rs3014939 36 128 0.28125 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 0 N - - GUCY1B2 Asn203His N203H not reviewed Insufficiently evaluated not reviewed unknown Array rs1328361 2150 3234 0.664811 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GUCY1B2 Thr8Ala T8A not reviewed Insufficiently evaluated not reviewed unknown Array rs9568497 1760 3234 0.544218 43 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX747962 Gly135Ser G135S not reviewed Insufficiently evaluated not reviewed unknown Array rs1931954 34 104 0.326923 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AL833908 Lys545Glu K545E not reviewed Insufficiently evaluated not reviewed unknown Array rs9554897 48 128 0.375 35 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AL833908 Leu12Pro L12P not reviewed Insufficiently evaluated not reviewed unknown Array rs6491707 126 128 0.984375 52 0 103 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC034570 Val240Met V240M not reviewed Insufficiently evaluated not reviewed unknown Array rs7399982 107 128 0.835938 55 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DQ866763 Asn235Ser N235S not reviewed Insufficiently evaluated not reviewed unknown Array rs34241719 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEH Val308Ala V308A not reviewed Insufficiently evaluated not reviewed unknown Array rs8135863 24 24 1 12 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC032242 Gly127Glu G127E not reviewed Insufficiently evaluated not reviewed unknown Array rs12878216 52 128 0.40625 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC153822 Leu242Gln L242Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4444236 125 128 0.976562 55 0 108 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZFHX2 Val400Ala V400A not reviewed Insufficiently evaluated not reviewed unknown Array rs4982766 49 128 0.382812 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DPPA3 Asn11Ile N11I not reviewed Insufficiently evaluated not reviewed unknown Array rs3742592 111 128 0.867188 55 0 94 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DPPA3 Asp26Gly D26G not reviewed Insufficiently evaluated not reviewed unknown Array rs3742593 44 126 0.349206 24 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TTC6 Thr140Ile T140I not reviewed Insufficiently evaluated not reviewed unknown Array rs4901284 40 126 0.31746 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BX161387 Gly98Ser G98S not reviewed Insufficiently evaluated not reviewed unknown Array rs1953416 19 110 0.172727 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAM21P1 Ser330Ala S330A not reviewed Insufficiently evaluated not reviewed unknown Array rs2296918 106 124 0.854839 50 0 85 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ADAM21P1 Arg238Cys R238C not reviewed Insufficiently evaluated not reviewed unknown Array rs11629177 7 70 0.1 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C14ORF48 Thr62Met T62M not reviewed Insufficiently evaluated not reviewed unknown Array rs59505521 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK026211 Arg50Cys R50C not reviewed Insufficiently evaluated not reviewed unknown Array rs3918131 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AF469208 Leu37Pro L37P not reviewed Insufficiently evaluated not reviewed unknown Array rs17100344 25 128 0.195312 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AF469208 Ser31Arg S31R not reviewed Insufficiently evaluated not reviewed unknown Array rs60082567 25 128 0.195312 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C14ORF153 Pro14Ala P14A not reviewed Insufficiently evaluated not reviewed unknown Array rs2274268 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGHA2 Arg108Pro R108P not reviewed Insufficiently evaluated not reviewed unknown Array rs9972103 82 124 0.66129 37 0 61 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IGHA2 Ser99Pro S99P not reviewed Insufficiently evaluated not reviewed unknown Array rs61984162 84 124 0.677419 39 0 63 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA0125 Thr156Ile T156I not reviewed Insufficiently evaluated not reviewed unknown Array rs2106010 38 72 0.527778 17 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IGHV7-81 Leu100Met L100M not reviewed Insufficiently evaluated not reviewed unknown Array rs61741324 795 10282 0.0773196 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - IGHV7-81 Thr97Ile T97I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741323 795 10278 0.0773497 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HERC2P3 Arg1119Ile R1119I not reviewed Insufficiently evaluated not reviewed unknown Array rs4931826 34 120 0.283333 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GOLGA8E Thr387Ala T387A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001080841 Arg42Cys R42C not reviewed Insufficiently evaluated not reviewed unknown Array rs267613 40 122 0.327869 33 0 35 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NM_001080841 Val80Ala V80A not reviewed Insufficiently evaluated not reviewed unknown Array rs7167256 25 114 0.219298 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001080841 Arg85Cys R85C not reviewed Insufficiently evaluated not reviewed unknown Array rs1810247 25 118 0.211864 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CR619482 Stop184Arg X184R not reviewed Insufficiently evaluated not reviewed unknown Array rs2059928 81 122 0.663934 51 0 71 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR619482 Cys11Arg C11R not reviewed Insufficiently evaluated not reviewed unknown Array rs4505267 56 124 0.451613 40 0 45 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AB061718 Asp82Gly D82G not reviewed Insufficiently evaluated not reviewed unknown Array rs1030389 61 128 0.476562 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK310526 Trp268Cys W268C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX747968 Pro110Ser P110S not reviewed Insufficiently evaluated not reviewed unknown Array rs2293582 13 108 0.12037 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX747968 Leu2Phe L2F not reviewed Insufficiently evaluated not reviewed unknown Array rs2293581 20 114 0.175439 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STARD9 Ala181Val A181V not reviewed Insufficiently evaluated not reviewed unknown Array rs16957055 13 128 0.101562 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - STARD9 Met392Val M392V not reviewed Insufficiently evaluated not reviewed unknown Array rs28744617 37 128 0.289062 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - STARD9 Arg653His R653H not reviewed Insufficiently evaluated not reviewed unknown Array rs8030587 60 126 0.47619 35 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - STARD9 Thr831Ile T831I not reviewed Insufficiently evaluated not reviewed unknown Array rs8031218 44 128 0.34375 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - STARD9 Arg991Gly R991G not reviewed Insufficiently evaluated not reviewed unknown Array rs3742995 14 128 0.109375 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - STARD9 Asn1359Asp N1359D not reviewed Insufficiently evaluated not reviewed unknown Array rs3742993 36 128 0.28125 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - STARD9 Tyr1445Cys Y1445C not reviewed Insufficiently evaluated not reviewed unknown Array rs16957061 14 128 0.109375 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AY271967 Cys91Arg C91R not reviewed Insufficiently evaluated not reviewed unknown Array rs8042811 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - BX648577 Asn5Lys N5K not reviewed Insufficiently evaluated not reviewed unknown Array rs16953240 25 126 0.198413 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HSP90AB4P Asn465Lys N465K not reviewed Insufficiently evaluated not reviewed unknown Array rs7161889 74 128 0.578125 43 0 67 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HSP90AB4P Glu411Val E411V not reviewed Insufficiently evaluated not reviewed unknown Array rs7163162 74 128 0.578125 43 0 67 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HSP90AB4P Asn54Thr N54T not reviewed Insufficiently evaluated not reviewed unknown Array rs4774310 64 128 0.5 40 0 56 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - AX747619 Trp176Arg W176R not reviewed Insufficiently evaluated not reviewed unknown Array rs4374117 12 12 1 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SCAPER Pro1088Thr P1088T not reviewed Insufficiently evaluated not reviewed unknown Array rs1607017 34 128 0.265625 22 0 25 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 0 N - - TMC3 Asp1098Asn D1098N not reviewed Insufficiently evaluated not reviewed unknown Array rs4417518 8814 10106 0.872155 53 0 91 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TMC3 Arg1011Lys R1011K not reviewed Insufficiently evaluated not reviewed unknown Array rs8031046 1686 10008 0.168465 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - TMC3 Cys892Tyr C892Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11636318 6076 9800 0.62 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ACAN Glu1388Ala E1388A not reviewed Insufficiently evaluated not reviewed unknown Array rs2882676 56 124 0.451613 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ACAN Ile1645Val I1645V not reviewed Insufficiently evaluated not reviewed unknown Array rs4932439 101 128 0.789062 47 0 81 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ACAN Ile1959Val I1959V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042630 80 126 0.634921 45 0 63 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC037497 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array rs12905790 71 122 0.581967 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC037497 Ile136Val I136V not reviewed Insufficiently evaluated not reviewed unknown Array rs12910750 77 128 0.601562 46 0 65 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYNM Val271Ala V271A not reviewed Insufficiently evaluated not reviewed unknown Array rs2305445 5615 10336 0.543247 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYNM Val329Ile V329I not reviewed Insufficiently evaluated not reviewed unknown Array rs5030691 770 9716 0.0792507 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SYNM Glu1385Gly E1385G not reviewed Insufficiently evaluated not reviewed unknown Array rs2292288 4280 10030 0.42672 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001040615 Arg680Ser R680S not reviewed Insufficiently evaluated not reviewed unknown Array rs8451 4345 10758 0.403885 31 0 38 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - NM_001040615 Glu641Asp E641D not reviewed Insufficiently evaluated not reviewed unknown Array rs12157 4344 10758 0.403793 32 0 39 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NM_001040615 Val406Met V406M not reviewed Insufficiently evaluated not reviewed unknown Array rs12719734 10547 10758 0.980387 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001040615 Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array rs11247226 4143 10758 0.385109 31 0 37 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - PCSK6 Thr638Ile T638I not reviewed Insufficiently evaluated not reviewed unknown Array rs55819708 355 10246 0.0346477 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR601154 Arg219His R219H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR601154 Ala255Val A255V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR601154 Glu256Asp E256D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CR601154 Glu259Lys E259K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK056814 Leu22Pro L22P not reviewed Insufficiently evaluated not reviewed unknown Array rs530518 117 118 0.991525 47 0 94 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C16ORF73 Ile17Thr I17T not reviewed Insufficiently evaluated not reviewed unknown Array rs9806945 15 120 0.125 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF598 Met637Thr M637T not reviewed Insufficiently evaluated not reviewed unknown Array rs2286469 6067 9454 0.641739 39 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF434 Glu91Asp E91D not reviewed Insufficiently evaluated not reviewed unknown Array rs27241 41 128 0.320312 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK311524 Val28Ala V28A not reviewed Insufficiently evaluated not reviewed unknown Array rs4785936 112 124 0.903226 53 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC148245 Trp82Arg W82R not reviewed Insufficiently evaluated not reviewed unknown Array rs2075465 65 122 0.532787 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BX537921 Gly5Asp G5D not reviewed Insufficiently evaluated not reviewed unknown Array rs1641071 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BX537921 Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array rs1730993 20 128 0.15625 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BX537921 Leu94Ser L94S not reviewed Insufficiently evaluated not reviewed unknown Array rs1641072 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CR749545 Met116Thr M116T not reviewed Insufficiently evaluated not reviewed unknown Array rs9938751 103 128 0.804688 48 0 85 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NPIP Ile348Val I348V not reviewed Insufficiently evaluated not reviewed unknown Array rs9923527 3 10 0.3 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC119018 Ser16Ala S16A not reviewed Insufficiently evaluated not reviewed unknown Array rs179196 16 128 0.125 10 0 13 0 0 - - - - - - - - - - - - - - - - 0.312 - - -1 - 0 N - - NM_014711 Ile252Met I252M not reviewed Insufficiently evaluated not reviewed unknown Array rs226891 9981 10756 0.927947 55 0 104 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK292594 Tyr259Cys Y259C not reviewed Insufficiently evaluated not reviewed unknown Array rs3213646 41 128 0.320312 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC7A5P2 Met26Ile M26I not reviewed Insufficiently evaluated not reviewed unknown Array rs42139 20 48 0.416667 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - VWA3A Thr464Ile T464I not reviewed Insufficiently evaluated not reviewed unknown Array rs1105929 65 128 0.507812 37 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VWA3A Phe812Leu F812L not reviewed Insufficiently evaluated not reviewed unknown Array rs1991020 123 128 0.960938 51 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_018690 Val785Ala V785A not reviewed Insufficiently evaluated not reviewed unknown Array rs40832 9970 10150 0.982266 54 0 107 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZG16 Gly32Ser G32S not reviewed Insufficiently evaluated not reviewed unknown Array rs235636 2849 3234 0.880952 46 0 82 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZG16 Leu109Val L109V not reviewed Insufficiently evaluated not reviewed unknown Array rs235637 3233 3234 0.999691 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZG16 Ser162Thr S162T not reviewed Insufficiently evaluated not reviewed unknown Array rs235638 3000 3234 0.927644 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK123137 Met71Thr M71T not reviewed Insufficiently evaluated not reviewed unknown Array rs8062719 86 128 0.671875 45 0 72 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK123137 Arg15Cys R15C not reviewed Insufficiently evaluated not reviewed unknown Array rs59449462 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC6A10P Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array 3 76 0.0394737 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MT1IP Glu20Gln E20Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71380433 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MT1IP Glu20Gly E20G not reviewed Insufficiently evaluated not reviewed unknown Array rs8048049 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AF452719 Pro175Leu P175L not reviewed Insufficiently evaluated not reviewed unknown Array rs7200390 18 128 0.140625 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PDPR Ile205Val I205V not reviewed Insufficiently evaluated not reviewed unknown Array rs10852462 24 76 0.315789 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PDPR Val374Leu V374L not reviewed Insufficiently evaluated not reviewed unknown Array rs59034887 12 108 0.111111 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDPR Tyr639Phe Y639F not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NPIPL2 Tyr240Cys Y240C not reviewed Insufficiently evaluated not reviewed unknown Array rs2868591 25 40 0.625 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NPIPL2 Pro247Leu P247L not reviewed Insufficiently evaluated not reviewed unknown Array rs11641596 11 42 0.261905 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 1 N - - PKD1L2 Met2313Ile M2313I not reviewed Insufficiently evaluated not reviewed unknown Array rs8054182 9281 10074 0.921283 54 0 95 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PKD1L2 Ser2207Arg S2207R not reviewed Insufficiently evaluated not reviewed unknown Array rs4889238 9793 9928 0.986402 54 0 105 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PKD1L2 Ser2137Phe S2137F not reviewed Insufficiently evaluated not reviewed unknown Array rs4889241 9324 10306 0.904716 54 0 96 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PKD1L2 Met1866Val M1866V not reviewed Insufficiently evaluated not reviewed unknown Array rs12918619 9807 10266 0.955289 55 0 105 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Gly1847Arg G1847R not reviewed Insufficiently evaluated not reviewed unknown Array rs4889244 5835 10280 0.567607 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK123582 Ser55Tyr S55Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11864937 3623 10740 0.337337 34 0 38 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AK123582 Ser42Arg S42R not reviewed Insufficiently evaluated not reviewed unknown Array rs11646787 7039 10672 0.659576 47 0 64 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK123582 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array rs11864916 48 128 0.375 35 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX747795 Thr53Ala T53A not reviewed Insufficiently evaluated not reviewed unknown Array rs7203179 65 126 0.515873 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX747795 Ile51Thr I51T not reviewed Insufficiently evaluated not reviewed unknown Array rs12445306 12 128 0.09375 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C16ORF85 Pro25Arg P25R not reviewed Insufficiently evaluated not reviewed unknown Array rs56983565 2393 6172 0.387719 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BC061904 Pro160Ser P160S not reviewed Insufficiently evaluated not reviewed unknown Array rs7190099 8 40 0.2 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC089450 Pro160Leu P160L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743824 69 124 0.556452 35 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC089450 Val73Phe V73F not reviewed Insufficiently evaluated not reviewed unknown Array rs1048148 70 124 0.564516 35 0 57 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC014971 Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array rs8050190 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC139719 Val60Met V60M not reviewed Insufficiently evaluated not reviewed unknown Array rs8049119 1 40 0.025 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC139719 Thr99Ser T99S not reviewed Insufficiently evaluated not reviewed unknown Array rs8051193 37 62 0.596774 20 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC139719 Phe154Ser F154S not reviewed Insufficiently evaluated not reviewed unknown Array rs8055916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC122528 Asn5Ser N5S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR3A4 Ser193Ala S193A not reviewed Insufficiently evaluated not reviewed unknown Array rs231678 3955 10758 0.367633 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK310981 Tyr70Cys Y70C not reviewed Insufficiently evaluated not reviewed unknown Array rs11078475 53 128 0.414062 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX747630 Arg42Cys R42C not reviewed Insufficiently evaluated not reviewed unknown Array rs9896256 46 128 0.359375 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF287 Lys274Thr K274T not reviewed Insufficiently evaluated not reviewed unknown Array rs7224723 21 128 0.164062 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC026998 Ser4Asn S4N not reviewed Insufficiently evaluated not reviewed unknown Array rs570145 75 126 0.595238 38 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC144NL Stop222Gln X222Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4605228 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM11 Ala39Ser A39S not reviewed Insufficiently evaluated not reviewed unknown Array rs3744223 9 64 0.140625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SEBOX Leu211Ser L211S not reviewed Insufficiently evaluated not reviewed unknown Array rs9910163 108 128 0.84375 52 0 95 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SARM1 Ser265Pro S265P not reviewed Insufficiently evaluated not reviewed unknown Array rs11658194 10211 10256 0.995612 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SARM1 Ser265Trp S265W not reviewed Insufficiently evaluated not reviewed unknown Array rs11652384 10218 10258 0.996101 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NPEPPS Arg157Trp R157W not reviewed Insufficiently evaluated not reviewed unknown Array rs2610295 109 116 0.939655 45 0 85 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LASP1 His24Arg H24R not reviewed Insufficiently evaluated not reviewed unknown Array rs525989 7851 10756 0.729918 46 0 70 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KRTAP2-2 Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array rs12937861 524 3222 0.162632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HAP1 Phe560Leu F560L not reviewed Insufficiently evaluated not reviewed unknown Array rs8075017 104 118 0.881356 45 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HAP1 Arg437Trp R437W not reviewed Insufficiently evaluated not reviewed unknown Array rs11867808 40 126 0.31746 29 0 32 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 1 N - - BC043620 Gly161Ser G161S not reviewed Insufficiently evaluated not reviewed unknown Array rs597255 6264 10758 0.582264 43 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ADAM11 Leu93Ser L93S not reviewed Insufficiently evaluated not reviewed unknown Array rs2070605 6265 10758 0.582357 46 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADAM11 Ala226Thr A226T not reviewed Insufficiently evaluated not reviewed unknown Array rs35504352 72 118 0.610169 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ADAM11 Pro255Ser P255S not reviewed Insufficiently evaluated not reviewed unknown Array rs16970986 78 126 0.619048 48 0 69 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX747040 Lys153Glu K153E not reviewed Insufficiently evaluated not reviewed unknown Array rs3826425 35 128 0.273438 30 0 33 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - AX747040 His364Arg H364R not reviewed Insufficiently evaluated not reviewed unknown Array rs3744473 31 126 0.246032 28 0 30 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - NM_175882 Ser224Pro S224P not reviewed Insufficiently evaluated not reviewed unknown Array rs62621252 12 124 0.0967742 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_175882 His303Arg H303R not reviewed Insufficiently evaluated not reviewed unknown Array rs242944 37 102 0.362745 21 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_175882 Ala332Thr A332T not reviewed Insufficiently evaluated not reviewed unknown Array rs62054815 9 120 0.075 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NM_175882 Arg461Pro R461P not reviewed Insufficiently evaluated not reviewed unknown Array rs12185233 11 122 0.0901639 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.535 - - 5 Y 0 N - - NM_175882 Ile471Val I471V not reviewed Insufficiently evaluated not reviewed unknown Array rs12185268 11 122 0.0901639 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - NM_175882 Ser601Pro S601P not reviewed Insufficiently evaluated not reviewed unknown Array rs12373123 14 128 0.109375 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 1 N - - NM_175882 Gly620Arg G620R not reviewed Insufficiently evaluated not reviewed unknown Array rs12373139 14 128 0.109375 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.588 - - 6 Y 0 N - - NM_175882 Pro643Arg P643R not reviewed Insufficiently evaluated not reviewed unknown Array rs12373142 14 128 0.109375 7 0 9 0 0 - - - - - - - - - - - - - - - - 0.65 - - 5 Y 0 N - - TTLL6 Glu390Asp E390D not reviewed Insufficiently evaluated not reviewed unknown Array rs2032844 31 128 0.242188 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC033456 Lys101Glu K101E not reviewed Insufficiently evaluated not reviewed unknown Array rs2586484 124 128 0.96875 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYCBPAP Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array rs1380657 97 128 0.757812 50 0 84 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYCBPAP Arg688Trp R688W not reviewed Insufficiently evaluated not reviewed unknown Array rs9890721 57 128 0.445312 33 0 46 0 0 - - - - - - - - - - - - - - - - 0.725 - - 7 Y 0 N - - MYCBPAP Ser910Arg S910R not reviewed Insufficiently evaluated not reviewed unknown Array rs1133818 94 124 0.758065 48 0 81 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AL833315 Ile494Val I494V not reviewed Insufficiently evaluated not reviewed unknown Array rs6504255 128 128 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZACN Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs2257020 72 126 0.571429 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRCD Met224Val M224V not reviewed Insufficiently evaluated not reviewed unknown Array rs4232870 50 126 0.396825 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC036810 Trp266Arg W266R not reviewed Insufficiently evaluated not reviewed unknown Array rs11077350 47 122 0.385246 32 0 38 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AL832652 His953Arg H953R not reviewed Insufficiently evaluated not reviewed unknown Array rs12941494 10171 10748 0.946316 42 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH17 Ile494Val I494V not reviewed Insufficiently evaluated not reviewed unknown Array rs16971526 1077 10758 0.100112 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RNF213 Asn776Asp N776D not reviewed Insufficiently evaluated not reviewed unknown Array rs6565674 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RNF213 Gln864Lys Q864K not reviewed Insufficiently evaluated not reviewed unknown Array rs8082521 2238 3234 0.692022 43 0 68 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RNF213 Val926Met V926M not reviewed Insufficiently evaluated not reviewed unknown Array rs10782008 1942 3234 0.600495 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RNF213 Glu1003Gln E1003Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9913636 1298 3234 0.401361 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RNF213 Asp1062Gly D1062G not reviewed Insufficiently evaluated not reviewed unknown Array rs8074015 2244 3234 0.693878 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK056555 Ser63Gly S63G not reviewed Insufficiently evaluated not reviewed unknown Array rs11870986 78 128 0.609375 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BAHCC1 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array rs12952981 2459 8174 0.300832 14 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAHCC1 Thr250Ala T250A not reviewed Insufficiently evaluated not reviewed unknown Array rs12938890 102 102 1 41 0 82 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAHCC1 Thr1075Ala T1075A not reviewed Insufficiently evaluated not reviewed unknown Array rs7213444 7020 8944 0.784884 48 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BAHCC1 Arg1341Gln R1341Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35572189 2985 8908 0.335092 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BAHCC1 Thr1585Ala T1585A not reviewed Insufficiently evaluated not reviewed unknown Array rs12601317 8214 10346 0.79393 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TSPAN10 Arg321Ser R321S not reviewed Insufficiently evaluated not reviewed unknown Array rs7406494 3246 3262 0.995095 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK095347 Leu63Pro L63P not reviewed Insufficiently evaluated not reviewed unknown Array rs4798516 65 122 0.532787 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK095347 Pro49Gln P49Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4797265 68 122 0.557377 40 0 58 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BX649021 Glu128Lys E128K not reviewed Insufficiently evaluated not reviewed unknown Array rs4519391 72 128 0.5625 45 0 62 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BX649021 Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array rs7243248 77 128 0.601562 48 0 65 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001029999 Tyr48Cys Y48C not reviewed Insufficiently evaluated not reviewed unknown Array rs62085005 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747360 Lys36Gln K36Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3897592 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001029999 Glu109Ala E109A not reviewed Insufficiently evaluated not reviewed unknown Array rs3897592 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747360 Val51Met V51M not reviewed Insufficiently evaluated not reviewed unknown Array rs7230059 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747360 Ala73Pro A73P not reviewed Insufficiently evaluated not reviewed unknown Array rs7230225 6 10 0.6 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AX747360 Gln115Arg Q115R not reviewed Insufficiently evaluated not reviewed unknown Array rs61264090 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETBP1 Pro1076Thr P1076T not reviewed Insufficiently evaluated not reviewed unknown Array rs1064204 18 128 0.140625 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LOXHD1 Arg877Gly R877G not reviewed Insufficiently evaluated not reviewed unknown Array rs1893566 22 30 0.733333 11 0 18 0 0 - - - - - - - - - - - - - - - - 0.027 - - 6 Y 0 N - - BC035018 Val63Met V63M not reviewed Insufficiently evaluated not reviewed unknown Array rs58215084 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.799 - - 0 - 1 N - - BC035018 Gly161Val G161V not reviewed Insufficiently evaluated not reviewed unknown Array rs11151997 81 128 0.632812 45 0 68 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 1 N - - SERPINBP1 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array rs1506418 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERPINBP1 Trp187Arg W187R not reviewed Insufficiently evaluated not reviewed unknown Array rs1506419 44 0 63 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINBP1 Thr292Ile T292I not reviewed Insufficiently evaluated not reviewed unknown Array rs1395266 54 0 87 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINBP1 Ser302Pro S302P not reviewed Insufficiently evaluated not reviewed unknown Array rs1395267 53 0 89 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR749350 Leu401Pro L401P not reviewed Insufficiently evaluated not reviewed unknown Array rs12606060 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CR618658 Glu88Lys E88K not reviewed Insufficiently evaluated not reviewed unknown Array rs8087020 116 118 0.983051 47 0 91 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK056304 Thr61Ile T61I not reviewed Insufficiently evaluated not reviewed unknown Array rs58516124 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_024888 Thr531Ala T531A not reviewed Insufficiently evaluated not reviewed unknown Array rs351994 1333 6976 0.191084 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLK5P Arg266Gln R266Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55953917 36 126 0.285714 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLK5P Gly275Arg G275R not reviewed Insufficiently evaluated not reviewed unknown Array rs265282 61 128 0.476562 34 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_152988 Ser573Pro S573P not reviewed Insufficiently evaluated not reviewed unknown Array rs10402284 1826 9504 0.19213 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK098244 Lys71Arg K71R not reviewed Insufficiently evaluated not reviewed unknown Array rs12980632 34 84 0.404762 18 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK098244 Ile366Thr I366T not reviewed Insufficiently evaluated not reviewed unknown Array rs2108389 79 128 0.617188 40 0 63 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK098244 Ser560Pro S560P not reviewed Insufficiently evaluated not reviewed unknown Array rs8105780 74 118 0.627119 37 0 58 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC117296 Gln91His Q91H not reviewed Insufficiently evaluated not reviewed unknown Array rs3760955 37 126 0.293651 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRR22 Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array rs3745640 27 110 0.245455 22 0 28 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 1 N - - NM_001013640 Gln172Arg Q172R not reviewed Insufficiently evaluated not reviewed unknown Array rs8113341 114 128 0.890625 51 0 93 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001013640 Asp251Gly D251G not reviewed Insufficiently evaluated not reviewed unknown Array rs1993466 37 126 0.293651 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001013640 Leu262Arg L262R not reviewed Insufficiently evaluated not reviewed unknown Array rs4552116 35 122 0.286885 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.953 - - 6 Y 1 N - - AF161365 Arg60Ile R60I not reviewed Insufficiently evaluated not reviewed unknown Array rs420703 72 128 0.5625 41 0 62 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC125186 Lys226Glu K226E not reviewed Insufficiently evaluated not reviewed unknown Array rs7259684 29 128 0.226562 22 0 28 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - BC125186 Thr276Ala T276A not reviewed Insufficiently evaluated not reviewed unknown Array rs7259845 43 128 0.335938 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - BC125186 Ala308Pro A308P not reviewed Insufficiently evaluated not reviewed unknown Array rs6511763 43 128 0.335938 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BC125186 Ile642Met I642M not reviewed Insufficiently evaluated not reviewed unknown Array rs10426017 43 128 0.335938 31 0 41 0 0 - - - - - - - - - - - - - - - - 0.125 - - -1 - 0 N - - ZNF788 Arg7Gly R7G not reviewed Insufficiently evaluated not reviewed unknown Array rs1866382 124 128 0.96875 54 0 105 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - ZNF788 Cys167Arg C167R not reviewed Insufficiently evaluated not reviewed unknown Array rs1975349 55 128 0.429688 40 0 52 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF788 Ser321Ile S321I not reviewed Insufficiently evaluated not reviewed unknown Array rs60823658 7 128 0.0546875 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.967 - - 5 Y 1 N - - ZNF788 Tyr604His Y604H not reviewed Insufficiently evaluated not reviewed unknown Array rs8109273 34 128 0.265625 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF799 Arg193His R193H not reviewed Insufficiently evaluated not reviewed unknown Array rs55867194 79 128 0.617188 46 0 70 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF799 Leu146Pro L146P not reviewed Insufficiently evaluated not reviewed unknown Array rs59301182 52 128 0.40625 36 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF799 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array rs57371898 51 128 0.398438 36 0 46 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF799 Thr43Ala T43A not reviewed Insufficiently evaluated not reviewed unknown Array rs11668955 44 128 0.34375 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF799 Trp41Gly W41G not reviewed Insufficiently evaluated not reviewed unknown Array rs11668074 44 128 0.34375 32 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF799 Cys14Ser C14S not reviewed Insufficiently evaluated not reviewed unknown Array rs10417283 42 128 0.328125 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF799 His13Asn H13N not reviewed Insufficiently evaluated not reviewed unknown Array rs10414984 42 128 0.328125 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC011002 Val198Ala V198A not reviewed Insufficiently evaluated not reviewed unknown Array rs7258963 59 128 0.460938 40 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR591280 Glu47Lys E47K not reviewed Insufficiently evaluated not reviewed unknown Array rs706762 337 3234 0.104205 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM129C Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array rs8107859 119 128 0.929688 50 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UNC13A Leu1121Pro L1121P not reviewed Insufficiently evaluated not reviewed unknown Array rs4239634 128 128 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1683 Ala590Thr A590T not reviewed Insufficiently evaluated not reviewed unknown Array rs3826969 26 128 0.203125 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1683 Asn575Tyr N575Y not reviewed Insufficiently evaluated not reviewed unknown Array rs8105176 33 128 0.257812 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIAA1683 Glu81Gly E81G not reviewed Insufficiently evaluated not reviewed unknown Array rs8109771 33 128 0.257812 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NR_003128 Ala99Gly A99G not reviewed Insufficiently evaluated not reviewed unknown Array rs8103002 57 126 0.452381 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF738 Asp3Asn D3N not reviewed Insufficiently evaluated not reviewed unknown Array rs1142653 67 128 0.523438 41 0 60 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - NM_001111266 Gly98Glu G98E not reviewed Insufficiently evaluated not reviewed unknown Array rs12610462 75 128 0.585938 43 0 61 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RPSA Thr273Met T273M not reviewed Insufficiently evaluated not reviewed unknown Array rs10460212 94 100 0.94 39 0 74 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TDRD12 Lys413Glu K413E not reviewed Insufficiently evaluated not reviewed unknown Array rs11881633 76 126 0.603175 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR622909 Asn177Ile N177I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743241 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR622909 Asn149Thr N149T not reviewed Insufficiently evaluated not reviewed unknown Array rs2121140 15 128 0.117188 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_014727 Ser1017Arg S1017R not reviewed Insufficiently evaluated not reviewed unknown Array rs35734443 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_014727 Asp2361Gly D2361G not reviewed Insufficiently evaluated not reviewed unknown Array rs231591 5686 9864 0.57644 49 0 78 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX746638 Phe102Leu F102L not reviewed Insufficiently evaluated not reviewed unknown Array rs2967479 19 20 0.95 9 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX746638 Ala63Thr A63T not reviewed Insufficiently evaluated not reviewed unknown Array rs72623859 7 28 0.25 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX746638 Leu48Gln L48Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55676133 5 70 0.0714286 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF529 Leu98Val L98V not reviewed Insufficiently evaluated not reviewed unknown Array rs2912444 82 128 0.640625 46 0 68 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX747375 Gly38Arg G38R not reviewed Insufficiently evaluated not reviewed unknown Array rs1673087 31 128 0.242188 21 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF568 Gly4Glu G4E not reviewed Insufficiently evaluated not reviewed unknown Array rs1624087 77 126 0.611111 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF568 Val59Ile V59I not reviewed Insufficiently evaluated not reviewed unknown Array rs8101258 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF568 Val91Gly V91G not reviewed Insufficiently evaluated not reviewed unknown Array rs1625963 71 128 0.554688 43 0 56 0 0 - - - - - - - - - - - - - - - - 0.481 - - 8 Y 0 N - - AX747376 Val29Ile V29I not reviewed Insufficiently evaluated not reviewed unknown Array rs1345748 68 128 0.53125 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AX747376 Lys63Glu K63E not reviewed Insufficiently evaluated not reviewed unknown Array rs1363752 68 128 0.53125 41 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX747376 Ser120Arg S120R not reviewed Insufficiently evaluated not reviewed unknown Array rs1644698 66 124 0.532258 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX747376 Phe151Leu F151L not reviewed Insufficiently evaluated not reviewed unknown Array rs3745770 34 122 0.278689 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC042630 Phe226Leu F226L not reviewed Insufficiently evaluated not reviewed unknown Array rs2305105 92 128 0.71875 50 0 79 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLEKHG2 Arg605His R605H not reviewed Insufficiently evaluated not reviewed unknown Array rs10407035 27 128 0.210938 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLEKHG2 Arg950Lys R950K not reviewed Insufficiently evaluated not reviewed unknown Array rs31726 70 128 0.546875 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PLEKHG2 Pro1287Ala P1287A not reviewed Insufficiently evaluated not reviewed unknown Array rs31728 70 128 0.546875 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK097370 Met5Val M5V not reviewed Insufficiently evaluated not reviewed unknown Array rs41530251 30 124 0.241935 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CD177 Ala347Thr A347T not reviewed Insufficiently evaluated not reviewed unknown Array rs61625631 1174 9376 0.125213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC034980 Lys228Arg K228R not reviewed Insufficiently evaluated not reviewed unknown Array rs13343696 25 124 0.201613 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BC034980 Asp640Asn D640N not reviewed Insufficiently evaluated not reviewed unknown Array rs34163641 26 126 0.206349 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CEACAM20 Cys512Arg C512R not reviewed Insufficiently evaluated not reviewed unknown Array rs8100718 4133 10058 0.410917 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NR_002797 Arg79Leu R79L not reviewed Insufficiently evaluated not reviewed unknown Array rs1055218 4 20 0.2 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C5AR1 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array rs4467185 10406 10758 0.96728 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C5AR1 Lys279Asn K279N not reviewed Insufficiently evaluated not reviewed unknown Array rs11880097 10408 10758 0.967466 49 0 98 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NR_004401 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array rs3826846 63 124 0.508065 37 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SNRNP70 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs1058882 2055 9782 0.21008 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIGLEC11 Asp588Asn D588N not reviewed Insufficiently evaluated not reviewed unknown Array rs45438992 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF577 Thr368Ile T368I not reviewed Insufficiently evaluated not reviewed unknown Array rs10407911 11 128 0.0859375 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF577 Glu366Lys E366K not reviewed Insufficiently evaluated not reviewed unknown Array rs10407547 13 128 0.101562 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF577 Arg350Ser R350S not reviewed Insufficiently evaluated not reviewed unknown Array rs9807853 12 126 0.0952381 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF577 Arg339Cys R339C not reviewed Insufficiently evaluated not reviewed unknown Array rs9807842 13 128 0.101562 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF577 Tyr263Cys Y263C not reviewed Insufficiently evaluated not reviewed unknown Array rs34295271 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF577 Lys239Glu K239E not reviewed Insufficiently evaluated not reviewed unknown Array rs2288868 68 128 0.53125 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF480 Pro158Ser P158S not reviewed Insufficiently evaluated not reviewed unknown Array rs13343641 17 128 0.132812 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF525 Asp158Asn D158N not reviewed Insufficiently evaluated not reviewed unknown Array rs4438413 63 124 0.508065 39 0 53 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF761 Ile68Ser I68S not reviewed Insufficiently evaluated not reviewed unknown Array rs2708743 80 128 0.625 43 0 65 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF761 Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array rs1984432 99 128 0.773438 47 0 79 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF761 Gly474Ser G474S not reviewed Insufficiently evaluated not reviewed unknown Array rs2708742 41 128 0.320312 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF761 Glu549Gln E549Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2617726 42 124 0.33871 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OSCAR Asn64Lys N64K not reviewed Insufficiently evaluated not reviewed unknown Array rs1657535 55 0 97 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LENG9 Arg477Pro R477P not reviewed Insufficiently evaluated not reviewed unknown Array rs10423424 66 126 0.52381 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LENG9 His131Arg H131R not reviewed Insufficiently evaluated not reviewed unknown Array rs10406453 22 42 0.52381 12 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZSCAN5B Pro139Ser P139S not reviewed Insufficiently evaluated not reviewed unknown Array rs527025 30 128 0.234375 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BX640680 Thr140Pro T140P not reviewed Insufficiently evaluated not reviewed unknown Array rs2304125 22 128 0.171875 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BX640680 Asn164Tyr N164Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2304126 11 128 0.0859375 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AK094748 Asp110Ala D110A not reviewed Insufficiently evaluated not reviewed unknown Array rs4801243 4 82 0.0487805 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SH3YL1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs10181051 46 128 0.359375 29 0 39 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - C2ORF90 His34Gln H34Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6711032 4692 9944 0.471842 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C2ORF90 Ala11Gly A11G not reviewed Insufficiently evaluated not reviewed unknown Array rs62103946 419 9888 0.0423746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF90 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array rs10184596 332 9922 0.033461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ITSN2 Ala1533Thr A1533T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303291 16 126 0.126984 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ITSN2 Ile1286Thr I1286T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731625 6 124 0.0483871 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITSN2 Val290Ile V290I not reviewed Insufficiently evaluated not reviewed unknown Array rs7603997 44 128 0.34375 32 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - SRD5A2 Leu88Val L88V not reviewed Insufficiently evaluated not reviewed unknown Array rs523349 7205 9934 0.725287 42 0 67 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - MYADML Ile144Val I144V not reviewed Insufficiently evaluated not reviewed unknown Array rs4477896 85 108 0.787037 41 0 68 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MYADML Trp129Cys W129C not reviewed Insufficiently evaluated not reviewed unknown Array rs2367810 86 86 1 34 0 68 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NAT8B Gly111Ala G111A not reviewed Insufficiently evaluated not reviewed unknown Array rs2001490 6078 10758 0.564975 49 0 72 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NAT8B Arg22Gly R22G not reviewed Insufficiently evaluated not reviewed unknown Array rs2012574 5745 10732 0.535315 44 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AB290165 Val986Ile V986I not reviewed Insufficiently evaluated not reviewed unknown Array rs1192269 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK057663 Asp60Gly D60G not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK131289 Met241Thr M241T not reviewed Insufficiently evaluated not reviewed unknown Array rs2175968 69 128 0.539062 36 0 54 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NT5DC4 Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array rs13386452 37 0 42 0 0 - - - - - - - - - - - - - - - - 0.312 - - 1 - 1 N - - NT5DC4 Tyr283Ser Y283S not reviewed Insufficiently evaluated not reviewed unknown Array rs4849116 102 128 0.796875 48 0 85 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - WASH1 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_003947 Pro73Leu P73L not reviewed Insufficiently evaluated not reviewed unknown Array rs7593686 17 70 0.242857 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NR_003947 Arg84His R84H not reviewed Insufficiently evaluated not reviewed unknown Array rs2570191 57 60 0.95 24 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NR_003947 Tyr175Phe Y175F not reviewed Insufficiently evaluated not reviewed unknown Array rs2551882 116 128 0.90625 52 0 96 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NR_003947 Ser185Gly S185G not reviewed Insufficiently evaluated not reviewed unknown Array rs2570192 109 128 0.851562 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001029996 Val351Ile V351I not reviewed Insufficiently evaluated not reviewed unknown Array rs2272058 10519 10758 0.977784 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TMEM185B Ala42Gly A42G not reviewed Insufficiently evaluated not reviewed unknown Array rs11550347 60 96 0.625 32 0 44 0 0 - - - - - - - - - - - - - - - - 0.094 - - 1 - 0 N - - BC113708 Cys164Tyr C164Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17050160 24 128 0.1875 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX747402 Leu52Pro L52P not reviewed Insufficiently evaluated not reviewed unknown Array rs57273169 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NR_002826 Lys337Asn K337N not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX746496 Leu114Phe L114F not reviewed Insufficiently evaluated not reviewed unknown Array rs12469517 62 120 0.516667 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX746496 Glu46Gly E46G not reviewed Insufficiently evaluated not reviewed unknown Array rs10182785 125 128 0.976562 55 0 106 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX746496 Leu30Arg L30R not reviewed Insufficiently evaluated not reviewed unknown Array rs10179938 29 128 0.226562 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK308371 Val148Phe V148F not reviewed Insufficiently evaluated not reviewed unknown Array rs12691998 59 124 0.475806 39 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK123346 Ile181Thr I181T not reviewed Insufficiently evaluated not reviewed unknown Array rs7560296 48 100 0.48 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC132926 Ala156Pro A156P not reviewed Insufficiently evaluated not reviewed unknown Array rs7563812 52 76 0.684211 23 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_016653 Ser531Leu S531L not reviewed Insufficiently evaluated not reviewed unknown Array rs3769148 3572 9714 0.367717 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_207482 Glu55Asp E55D not reviewed Insufficiently evaluated not reviewed unknown Array rs7576532 126 128 0.984375 52 0 101 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_207482 Ile347Thr I347T not reviewed Insufficiently evaluated not reviewed unknown Array rs4666689 111 126 0.880952 51 0 89 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_207482 Arg473Gln R473Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17826534 69 128 0.539062 40 0 56 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NM_207482 Arg658His R658H not reviewed Insufficiently evaluated not reviewed unknown Array rs1862066 70 128 0.546875 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_207482 Thr1581Ala T1581A not reviewed Insufficiently evaluated not reviewed unknown Array rs1468999 122 124 0.983871 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CXCR2P1 Asn50Ser N50S not reviewed Insufficiently evaluated not reviewed unknown Array rs16858606 12 128 0.09375 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TUBA4B Gln122Lys Q122K not reviewed Insufficiently evaluated not reviewed unknown Array rs7580926 13 128 0.101562 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - TUBA4B Cys154Arg C154R not reviewed Insufficiently evaluated not reviewed unknown Array rs7594971 126 126 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TUBA4B Arg160His R160H not reviewed Insufficiently evaluated not reviewed unknown Array rs61749295 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - TUBA4B Trp226Arg W226R not reviewed Insufficiently evaluated not reviewed unknown Array rs3731894 117 128 0.914062 55 0 102 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - USP40 Arg1042Cys R1042C not reviewed Insufficiently evaluated not reviewed unknown Array rs1048603 59 128 0.460938 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC042133 Ala190Thr A190T not reviewed Insufficiently evaluated not reviewed unknown Array rs879665 23 128 0.179688 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC042133 Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array rs879664 13 128 0.101562 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AK055890 Met17Val M17V not reviewed Insufficiently evaluated not reviewed unknown Array rs4675835 59 114 0.517544 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC157891 Cys90Arg C90R not reviewed Insufficiently evaluated not reviewed unknown Array rs450739 73 128 0.570312 41 0 59 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC157891 Ile152Leu I152L not reviewed Insufficiently evaluated not reviewed unknown Array rs203534 69 120 0.575 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C20ORF141 Arg12His R12H not reviewed Insufficiently evaluated not reviewed unknown Array rs215561 3 10758 0.000278862 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC031676 Thr38Ser T38S not reviewed Insufficiently evaluated not reviewed unknown Array rs606389 54 92 0.586957 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK125594 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array rs6135591 25 128 0.195312 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC128043 Asp97Gly D97G not reviewed Insufficiently evaluated not reviewed unknown Array rs3002702 52 112 0.464286 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C20ORF191 His19Arg H19R not reviewed Insufficiently evaluated not reviewed unknown Array rs62211581 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK307061 Lys40Arg K40R not reviewed Insufficiently evaluated not reviewed unknown Array rs11525721 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AK307061 Glu81Asp E81D not reviewed Insufficiently evaluated not reviewed unknown Array rs1803594 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSPY26P Pro246His P246H not reviewed Insufficiently evaluated not reviewed unknown Array rs3813922 38 128 0.296875 23 0 27 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - ASXL1 Leu814Pro L814P not reviewed Insufficiently evaluated not reviewed unknown Array rs6058694 10757 10758 0.999907 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF186 Arg30Pro R30P not reviewed Insufficiently evaluated not reviewed unknown Array rs13036385 20 120 0.166667 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C20ORF186 Asp160Gly D160G not reviewed Insufficiently evaluated not reviewed unknown Array rs4339026 27 128 0.210938 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C20ORF186 Ile229Val I229V not reviewed Insufficiently evaluated not reviewed unknown Array rs2070325 55 128 0.429688 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C20ORF186 Asn281Thr N281T not reviewed Insufficiently evaluated not reviewed unknown Array rs2889732 69 128 0.539062 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C20ORF186 Phe488Leu F488L not reviewed Insufficiently evaluated not reviewed unknown Array rs11699009 67 128 0.523438 39 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF186 Thr494Ile T494I not reviewed Insufficiently evaluated not reviewed unknown Array rs11696307 63 128 0.492188 38 0 52 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FER1L4 Trp103Arg W103R not reviewed Insufficiently evaluated not reviewed unknown Array rs224424 47 128 0.367188 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FER1L4 Arg98Gln R98Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41293070 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FER1L4 Val665Ile V665I not reviewed Insufficiently evaluated not reviewed unknown Array rs2277862 18 128 0.140625 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FER1L4 Lys526Glu K526E not reviewed Insufficiently evaluated not reviewed unknown Array rs1557202 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FER1L4 Gly305Arg G305R not reviewed Insufficiently evaluated not reviewed unknown Array rs6060486 127 128 0.992188 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FER1L4 Glu242Asp E242D not reviewed Insufficiently evaluated not reviewed unknown Array rs6060487 127 128 0.992188 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C20ORF132 Ser429Pro S429P not reviewed Insufficiently evaluated not reviewed unknown Array rs8115854 52 128 0.40625 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KCNK15 Glu95Gly E95G not reviewed Insufficiently evaluated not reviewed unknown Array rs1111032 6272 10752 0.583333 43 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MC3R Thr6Lys T6K not reviewed Insufficiently evaluated not reviewed unknown Array rs3746619 25 128 0.195312 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MC3R Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array rs3827103 25 128 0.195312 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - NM_001008735 Asn43Lys N43K not reviewed Insufficiently evaluated not reviewed unknown Array rs45451298 14 128 0.109375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NPEPL1 Lys303Arg K303R not reviewed Insufficiently evaluated not reviewed unknown Array rs8116292 303 10008 0.0302758 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NPEPL1 Leu513Val L513V not reviewed Insufficiently evaluated not reviewed unknown Array rs6026468 7000 10340 0.676983 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK097866 Gly114Arg G114R not reviewed Insufficiently evaluated not reviewed unknown Array rs55641738 7 128 0.0546875 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK097866 Arg99Met R99M not reviewed Insufficiently evaluated not reviewed unknown Array rs2892179 126 126 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001037335 Val1308Leu V1308L not reviewed Insufficiently evaluated not reviewed unknown Array rs310631 4624 10730 0.430941 32 0 43 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NM_001037335 His1123Arg H1123R not reviewed Insufficiently evaluated not reviewed unknown Array rs310632 10274 10632 0.966328 20 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001037335 Ser788Asn S788N not reviewed Insufficiently evaluated not reviewed unknown Array rs438363 9709 10750 0.903163 50 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001037335 Ala284Val A284V not reviewed Insufficiently evaluated not reviewed unknown Array rs6089924 1841 10718 0.171767 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_080622 Leu10Gln L10Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2281534 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DQ179141 Arg19His R19H not reviewed Insufficiently evaluated not reviewed unknown Array rs10432812 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTN1 Leu403Ser L403S not reviewed Insufficiently evaluated not reviewed unknown Array rs2254796 86 128 0.671875 46 0 73 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - URB1 Val1696Leu V1696L not reviewed Insufficiently evaluated not reviewed unknown Array rs3761342 117 128 0.914062 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYNJ1 Val1366Ala V1366A not reviewed Insufficiently evaluated not reviewed unknown Array rs66647173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_199175 Ala13Thr A13T not reviewed Insufficiently evaluated not reviewed unknown Array rs8131523 20 128 0.15625 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CECR2 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array rs5747211 1183 10214 0.115821 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AB020626 Pro524Leu P524L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744842 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AB020626 Gln218Arg Q218R not reviewed Insufficiently evaluated not reviewed unknown Array rs8135914 30 122 0.245902 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB020626 Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array rs45544141 13 128 0.101562 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AB020626 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744286 10 128 0.078125 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CLTCL1 Met1315Val M1315V not reviewed Insufficiently evaluated not reviewed unknown Array rs1061325 50 128 0.390625 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP41 Asn251Ser N251S not reviewed Insufficiently evaluated not reviewed unknown Array rs2277833 24 80 0.3 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC065749 Tyr63Asn Y63N not reviewed Insufficiently evaluated not reviewed unknown Array rs9625292 29 114 0.254386 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - IGLV2-14 Val48Ile V48I not reviewed Insufficiently evaluated not reviewed unknown Array rs412325 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IGLV2-14 Stop98Gln X98Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2582875 19 128 0.148438 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC036909 Ile114Met I114M not reviewed Insufficiently evaluated not reviewed unknown Array rs2070767 99 124 0.798387 50 0 86 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1671 Arg99Lys R99K not reviewed Insufficiently evaluated not reviewed unknown Array rs16979690 14 128 0.109375 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CU013345 Arg61Trp R61W not reviewed Insufficiently evaluated not reviewed unknown Array rs5749082 108 128 0.84375 54 0 93 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC157 Ser536Ala S536A not reviewed Insufficiently evaluated not reviewed unknown Array rs2015035 122 124 0.983871 50 0 99 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - INPP5J Ala227Thr A227T not reviewed Insufficiently evaluated not reviewed unknown Array rs2240432 34 128 0.265625 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC001801 Arg101Pro R101P not reviewed Insufficiently evaluated not reviewed unknown Array rs1476000 80 128 0.625 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - APOL4 Ser325Leu S325L not reviewed Insufficiently evaluated not reviewed unknown Array rs6000172 5748 10324 0.556761 46 0 71 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - APOL4 Ala318Glu A318E not reviewed Insufficiently evaluated not reviewed unknown Array rs6000173 5669 10212 0.555131 36 0 59 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APOL4 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array rs2227168 6013 10748 0.559453 44 0 71 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC035403 Trp125Arg W125R not reviewed Insufficiently evaluated not reviewed unknown Array rs739134 110 128 0.859375 50 0 96 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CU012959 Thr55Pro T55P not reviewed Insufficiently evaluated not reviewed unknown Array rs62240996 61 116 0.525862 30 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CYP2D7P1 Val391Ile V391I not reviewed Insufficiently evaluated not reviewed unknown Array rs3171709 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP2D7P1 His290Arg H290R not reviewed Insufficiently evaluated not reviewed unknown Array rs2982054 84 122 0.688525 47 0 77 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP2D7P1 Leu221Ser L221S not reviewed Insufficiently evaluated not reviewed unknown Array rs1800754 56 120 0.466667 38 0 55 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CYP2D7P1 Phe30Ile F30I not reviewed Insufficiently evaluated not reviewed unknown Array rs3020732 120 122 0.983607 52 0 100 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC036832 Ala92Ser A92S not reviewed Insufficiently evaluated not reviewed unknown Array rs8139990 53 122 0.434426 32 0 52 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC036832 Ser98Gly S98G not reviewed Insufficiently evaluated not reviewed unknown Array rs12159652 39 126 0.309524 27 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GTSE1 Ala200Val A200V not reviewed Insufficiently evaluated not reviewed unknown Array rs34404175 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - GTSE1 Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array rs35503220 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - GTSE1 Trp506Arg W506R not reviewed Insufficiently evaluated not reviewed unknown Array rs140054 113 114 0.991228 46 0 92 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CU013372 Leu124Gln L124Q not reviewed Insufficiently evaluated not reviewed unknown Array rs738935 96 122 0.786885 47 0 80 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KLHDC7B Gln132Arg Q132R not reviewed Insufficiently evaluated not reviewed unknown Array rs5770886 6 22 0.272727 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KLHDC7B His434Arg H434R not reviewed Insufficiently evaluated not reviewed unknown Array rs131779 65 120 0.541667 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SETMAR Pro31Ser P31S not reviewed Insufficiently evaluated not reviewed unknown Array rs60314351 4 108 0.037037 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747493 Glu87Lys E87K not reviewed Insufficiently evaluated not reviewed unknown Array rs62245493 13 124 0.104839 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001008737 His33Arg H33R not reviewed Insufficiently evaluated not reviewed unknown Array rs2272118 3794 10176 0.372838 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBLN2 Ser361Gly S361G not reviewed Insufficiently evaluated not reviewed unknown Array rs3732666 3748 10522 0.356206 40 0 56 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBLN2 Thr901Ala T901A not reviewed Insufficiently evaluated not reviewed unknown Array rs9843344 7379 10556 0.699034 53 0 88 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TPRXL Pro69His P69H not reviewed Insufficiently evaluated not reviewed unknown Array rs4684179 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FGD5 Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array rs61751584 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC035826 Ser30Arg S30R not reviewed Insufficiently evaluated not reviewed unknown Array rs61978649 46 128 0.359375 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SETD2 Glu399Gln E399Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58906143 10 128 0.078125 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 0 N - - CELSR3 Val3611Met V3611M not reviewed Insufficiently evaluated not reviewed unknown Array rs13324142 1207 10156 0.118846 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CELSR3 Gln1828Arg Q1828R not reviewed Insufficiently evaluated not reviewed unknown Array rs12107252 2512 10758 0.233501 27 0 37 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CELSR3 Ser875Thr S875T not reviewed Insufficiently evaluated not reviewed unknown Array rs3821875 1322 10758 0.122885 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SEMA3B Thr414Ile T414I not reviewed Insufficiently evaluated not reviewed unknown Array rs2071203 567 9792 0.0579044 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH1 His3897Arg H3897R not reviewed Insufficiently evaluated not reviewed unknown Array rs365048 114 114 1 46 0 91 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CCDC66 Gln266Arg Q266R not reviewed Insufficiently evaluated not reviewed unknown Array rs1491170 117 126 0.928571 52 0 95 0 0 - - - - - - - - - - - - - - - - 0.81 - - 0 - 0 N - - CCDC66 Glu475Gln E475Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4681904 40 128 0.3125 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK128592 Gly526Ser G526S not reviewed Insufficiently evaluated not reviewed unknown Array rs4060726 66 126 0.52381 41 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_018029 Ser46Pro S46P not reviewed Insufficiently evaluated not reviewed unknown Array rs2231924 5341 9778 0.546226 45 0 60 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_018029 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs2231926 5518 10002 0.55169 44 0 58 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_018029 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array rs1060584 5411 9832 0.550346 45 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001093779 Tyr77Cys Y77C not reviewed Insufficiently evaluated not reviewed unknown Array rs4683933 49 126 0.388889 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001093779 Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array rs4234491 114 126 0.904762 50 0 91 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC038577 Ser180Leu S180L not reviewed Insufficiently evaluated not reviewed unknown Array rs1381838 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC038577 Thr61Ala T61A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740853 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 1 N - - NM_001123328 Leu39His L39H not reviewed Insufficiently evaluated not reviewed unknown Array rs6438769 21 128 0.164062 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AY358102 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs777495 115 118 0.974576 50 0 98 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TOPBP1 Lys370Gln K370Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3192149 88 128 0.6875 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - P2RY13 Thr158Met T158M not reviewed Insufficiently evaluated not reviewed unknown Array rs1466684 110 128 0.859375 51 0 87 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AADACL2 Ala164Ser A164S not reviewed Insufficiently evaluated not reviewed unknown Array rs1972977 77 118 0.652542 40 0 60 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IFT80 Thr584Ser T584S not reviewed Insufficiently evaluated not reviewed unknown Array rs6778728 3522 10758 0.327384 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC105690 Asp59Gly D59G not reviewed Insufficiently evaluated not reviewed unknown Array rs603638 106 128 0.828125 53 0 92 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_032487 Glu234Lys E234K not reviewed Insufficiently evaluated not reviewed unknown Array rs2068178 446 10758 0.0414575 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.761 - - 0 - 1 N - - AY358227 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array rs13096615 54 128 0.421875 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX746839 Pro107Leu P107L not reviewed Insufficiently evaluated not reviewed unknown Array rs2185478 45 126 0.357143 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK057553 Asn69Ser N69S not reviewed Insufficiently evaluated not reviewed unknown Array rs52815337 18 50 0.36 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_152672 Val202Ile V202I not reviewed Insufficiently evaluated not reviewed unknown Array rs939885 4305 10758 0.400167 36 0 52 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AX747828 Glu96Lys E96K not reviewed Insufficiently evaluated not reviewed unknown Array rs6583309 30 128 0.234375 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC099730 Val173Leu V173L not reviewed Insufficiently evaluated not reviewed unknown Array rs59508097 8 128 0.0625 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC099730 Gly73Glu G73E not reviewed Insufficiently evaluated not reviewed unknown Array rs2280250 58 128 0.453125 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC010180 Asp72Gly D72G not reviewed Insufficiently evaluated not reviewed unknown Array rs17132548 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DOK7 Arg38Gly R38G not reviewed Insufficiently evaluated not reviewed unknown Array rs6811423 12 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PSAPL1 Ala516Thr A516T not reviewed Insufficiently evaluated not reviewed unknown Array rs60816800 14 128 0.109375 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PSAPL1 Val295Met V295M not reviewed Insufficiently evaluated not reviewed unknown Array rs6850206 18 128 0.140625 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSAPL1 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array rs56402179 13 126 0.103175 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C4ORF23 Arg123Gly R123G not reviewed Insufficiently evaluated not reviewed unknown Array rs1880024 92 126 0.730159 47 0 76 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC035074 Asp2His D2H not reviewed Insufficiently evaluated not reviewed unknown Array rs2302469 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC035074 His545Asn H545N not reviewed Insufficiently evaluated not reviewed unknown Array rs6449160 126 128 0.984375 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK308144 Val1042Ala V1042A not reviewed Insufficiently evaluated not reviewed unknown Array rs6825562 116 118 0.983051 48 0 94 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK308144 Arg784Trp R784W not reviewed Insufficiently evaluated not reviewed unknown Array rs2286771 34 78 0.435897 21 0 32 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 0 N - - AK308144 Arg643His R643H not reviewed Insufficiently evaluated not reviewed unknown Array rs1860596 73 124 0.58871 43 0 63 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC157885 Val179Asp V179D not reviewed Insufficiently evaluated not reviewed unknown Array rs1995319 122 128 0.953125 52 0 97 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LIMCH1 Thr413Met T413M not reviewed Insufficiently evaluated not reviewed unknown Array rs28622470 39 128 0.304688 28 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LIMCH1 Cys538Ser C538S not reviewed Insufficiently evaluated not reviewed unknown Array rs4590080 33 128 0.257812 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LIMCH1 Met1144Thr M1144T not reviewed Insufficiently evaluated not reviewed unknown Array rs11734372 67 128 0.523438 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK055055 Lys69Glu K69E not reviewed Insufficiently evaluated not reviewed unknown Array rs301093 38 128 0.296875 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK123556 Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array rs4463136 83 128 0.648438 43 0 69 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX794786 Gly50Asp G50D not reviewed Insufficiently evaluated not reviewed unknown Array rs2289443 83 128 0.648438 42 0 70 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR591456 Glu273Lys E273K not reviewed Insufficiently evaluated not reviewed unknown Array rs3733250 43 128 0.335938 27 0 35 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - CR591456 Thr366Met T366M not reviewed Insufficiently evaluated not reviewed unknown Array rs1036788 93 126 0.738095 48 0 78 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SHROOM3 Gly278Ala G278A not reviewed Insufficiently evaluated not reviewed unknown Array rs344140 80 128 0.625 41 0 61 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SHROOM3 Pro1289Leu P1289L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733242 60 128 0.46875 31 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SHROOM3 Thr1480Pro T1480P not reviewed Insufficiently evaluated not reviewed unknown Array rs61739913 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - 4 Y 0 N - - FRAS1 Lys2376Glu K2376E not reviewed Insufficiently evaluated not reviewed unknown Array rs7684722 125 128 0.976562 52 0 101 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - FRAS1 Glu3559Asp E3559D not reviewed Insufficiently evaluated not reviewed unknown Array rs931605 10 126 0.0793651 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 1 N - - FRAS1 Val3564Ile V3564I not reviewed Insufficiently evaluated not reviewed unknown Array rs931606 60 124 0.483871 37 0 50 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - HSP90AB3P Glu36Lys E36K not reviewed Insufficiently evaluated not reviewed unknown Array rs3811816 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HSP90AB3P Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3828551 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 1 N - - HSP90AB3P Asp201Glu D201E not reviewed Insufficiently evaluated not reviewed unknown Array rs3828552 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HSP90AB3P Asn294Thr N294T not reviewed Insufficiently evaluated not reviewed unknown Array rs3811818 21 128 0.164062 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.555 - - 1 - 0 N - - HSP90AB3P His320Asp H320D not reviewed Insufficiently evaluated not reviewed unknown Array rs3811819 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.115 - - 3 - 0 N - - HSP90AB3P Glu431Ala E431A not reviewed Insufficiently evaluated not reviewed unknown Array rs17008718 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HSP90AB3P Ser539Leu S539L not reviewed Insufficiently evaluated not reviewed unknown Array rs2904176 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 1 N - - HSP90AB3P Arg592His R592H not reviewed Insufficiently evaluated not reviewed unknown Array rs56105763 20 122 0.163934 15 0 15 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - HERC6 Cys198Arg C198R not reviewed Insufficiently evaluated not reviewed unknown Array rs12510688 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HERC6 Phe342Leu F342L not reviewed Insufficiently evaluated not reviewed unknown Array rs17014118 61 128 0.476562 37 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERC6 Arg577Gln R577Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734924 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADH1C Ile349Val I349V not reviewed Insufficiently evaluated not reviewed unknown Array rs698 3238 10686 0.303013 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ADH1C Arg271Gln R271Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1693482 3218 10758 0.299126 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EEF1A1P9 Lys31Gln K31Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17008180 30 128 0.234375 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_001099776 Ser390Leu S390L not reviewed Insufficiently evaluated not reviewed unknown Array rs17605622 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - AX746903 Pro113Gln P113Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11342908 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GK Glu485Lys E485K not reviewed Insufficiently evaluated not reviewed unknown Array rs55806488 13 114 0.114035 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - GK Ile329Thr I329T not reviewed Insufficiently evaluated not reviewed unknown Array rs56919208 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BC113534 Asp134Asn D134N not reviewed Insufficiently evaluated not reviewed unknown Array rs13436478 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK126213 Ile194Met I194M not reviewed Insufficiently evaluated not reviewed unknown Array rs62354663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_173667 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs16893687 3544 9836 0.360309 42 0 57 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001080479 Trp225Arg W225R not reviewed Insufficiently evaluated not reviewed unknown Array rs7714670 4320 10254 0.421299 33 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001080479 Pro284Gln P284Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6453022 5590 9818 0.569362 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001080479 His780Asn H780N not reviewed Insufficiently evaluated not reviewed unknown Array rs2973558 2765 9972 0.277276 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001080479 His1640Gln H1640Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1478453 3971 10316 0.384936 34 0 43 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - DQ579214 Phe258Leu F258L not reviewed Insufficiently evaluated not reviewed unknown Array rs13157900 18 128 0.140625 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NBPF22P Leu176Arg L176R not reviewed Insufficiently evaluated not reviewed unknown Array rs71580744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBPF22P Ala224Val A224V not reviewed Insufficiently evaluated not reviewed unknown Array 7 96 0.0729167 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NBPF22P Thr291Ile T291I not reviewed Insufficiently evaluated not reviewed unknown Array rs12654078 8 124 0.0645161 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AB020632 Ala468Thr A468T not reviewed Insufficiently evaluated not reviewed unknown Array rs29910 23 128 0.179688 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC112077 Leu40Phe L40F not reviewed Insufficiently evaluated not reviewed unknown Array rs17134162 139 3234 0.0429808 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZRSR1 Ser180Gly S180G not reviewed Insufficiently evaluated not reviewed unknown Array rs712665 56 128 0.4375 35 0 49 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZRSR1 Arg445Gln R445Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57112380 10 128 0.078125 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZRSR1 Ser469Asn S469N not reviewed Insufficiently evaluated not reviewed unknown Array rs430665 50 120 0.416667 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZRSR1 Gln502Lys Q502K not reviewed Insufficiently evaluated not reviewed unknown Array rs459102 66 128 0.515625 38 0 58 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AX747550 Arg29Gly R29G not reviewed Insufficiently evaluated not reviewed unknown Array rs9326980 83 104 0.798077 43 0 68 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_173800 Leu54Ser L54S not reviewed Insufficiently evaluated not reviewed unknown Array rs12520255 8749 10642 0.82212 16 0 28 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_173800 Leu689Phe L689F not reviewed Insufficiently evaluated not reviewed unknown Array rs10078759 8783 10752 0.816871 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FBXL21 Pro208Leu P208L not reviewed Insufficiently evaluated not reviewed unknown Array rs40986 7537 9640 0.781846 45 0 71 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK310493 Arg65Ser R65S not reviewed Insufficiently evaluated not reviewed unknown Array rs6596419 125 128 0.976562 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX746964 Lys166Ile K166I not reviewed Insufficiently evaluated not reviewed unknown Array rs251369 54 86 0.627907 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PCDHB18 Ser182Asn S182N not reviewed Insufficiently evaluated not reviewed unknown Array rs2907308 35 128 0.273438 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB18 Asp442Asn D442N not reviewed Insufficiently evaluated not reviewed unknown Array rs2909999 23 108 0.212963 19 0 24 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - PCDHB18 His483Arg H483R not reviewed Insufficiently evaluated not reviewed unknown Array rs2907306 16 94 0.170213 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDHB18 Ala624Val A624V not reviewed Insufficiently evaluated not reviewed unknown Array rs10053883 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PCDHGB8P Asp325Gly D325G not reviewed Insufficiently evaluated not reviewed unknown Array rs6883529 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHGB8P Ile349Leu I349L not reviewed Insufficiently evaluated not reviewed unknown Array rs3749765 30 128 0.234375 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AX747299 Ala122Gly A122G not reviewed Insufficiently evaluated not reviewed unknown Array rs34113080 36 128 0.28125 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF300P1 Thr111Ser T111S not reviewed Insufficiently evaluated not reviewed unknown Array rs10875561 77 128 0.601562 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF300P1 Asn15His N15H not reviewed Insufficiently evaluated not reviewed unknown Array rs17658199 77 128 0.601562 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC126474 Arg108Gly R108G not reviewed Insufficiently evaluated not reviewed unknown Array rs7727919 77 128 0.601562 42 0 65 0 0 - - - - - - - - - - - - - - - - 0.352 - - 6 Y 0 N - - BX648961 Val71Leu V71L not reviewed Insufficiently evaluated not reviewed unknown Array rs793027 93 128 0.726562 50 0 76 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM193B Ser703Pro S703P not reviewed Insufficiently evaluated not reviewed unknown Array rs337382 9946 10264 0.969018 54 0 103 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001080544 Cys172Arg C172R not reviewed Insufficiently evaluated not reviewed unknown Array rs11953798 47 112 0.419643 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NM_001080544 Phe184Ile F184I not reviewed Insufficiently evaluated not reviewed unknown Array rs9687038 82 128 0.640625 46 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GMCL1L Asn523Asp N523D not reviewed Insufficiently evaluated not reviewed unknown Array rs7720480 91 124 0.733871 45 0 78 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GMCL1L Arg440Cys R440C not reviewed Insufficiently evaluated not reviewed unknown Array rs13169133 58 126 0.460317 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GMCL1L Asn393Ser N393S not reviewed Insufficiently evaluated not reviewed unknown Array rs10479619 114 128 0.890625 52 0 97 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GMCL1L Arg378His R378H not reviewed Insufficiently evaluated not reviewed unknown Array rs13184406 59 126 0.468254 39 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BX648737 Thr112Ala T112A not reviewed Insufficiently evaluated not reviewed unknown Array rs17078988 43 128 0.335938 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BX648737 Glu159Asp E159D not reviewed Insufficiently evaluated not reviewed unknown Array rs17078991 43 128 0.335938 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC130444 Trp236Arg W236R not reviewed Insufficiently evaluated not reviewed unknown Array rs62405726 16 66 0.242424 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC040901 Cys89Trp C89W not reviewed Insufficiently evaluated not reviewed unknown Array rs248254 89 126 0.706349 46 0 74 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001101396 Asn108Ser N108S not reviewed Insufficiently evaluated not reviewed unknown Array rs4397092 55 116 0.474138 31 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_207582 Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array rs55714642 95 8046 0.0118071 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - AX747210 Leu10Arg L10R not reviewed Insufficiently evaluated not reviewed unknown Array rs1550526 106 126 0.84127 50 0 82 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX747210 Arg3Lys R3K not reviewed Insufficiently evaluated not reviewed unknown Array rs454563 104 120 0.866667 47 0 80 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CMAH Val478Ala V478A not reviewed Insufficiently evaluated not reviewed unknown Array rs303006 107 128 0.835938 82 0 139 1 1 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - This is a pseudogene; variants are of no consequence. ZNF391 Lys90Arg K90R not reviewed Insufficiently evaluated not reviewed unknown Array rs10807020 88 128 0.6875 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF391 Cys98Gly C98G not reviewed Insufficiently evaluated not reviewed unknown Array rs10807021 89 128 0.695312 47 0 76 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK309286 Thr125Ser T125S not reviewed Insufficiently evaluated not reviewed unknown Array rs9393888 33 124 0.266129 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK309286 Ala78Glu A78E not reviewed Insufficiently evaluated not reviewed unknown Array rs9380057 35 128 0.273438 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2U1P Met226Val M226V not reviewed Insufficiently evaluated not reviewed unknown Array rs3130827 65 128 0.507812 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK310256 Gly26Ser G26S not reviewed Insufficiently evaluated not reviewed unknown Array rs1610717 48 122 0.393443 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC051362 Gly31Asp G31D not reviewed Insufficiently evaluated not reviewed unknown Array rs1611207 54 126 0.428571 36 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC051362 Arg34Gln R34Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1611208 33 128 0.257812 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC051362 Ser47Pro S47P not reviewed Insufficiently evaluated not reviewed unknown Array rs1611209 33 128 0.257812 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC051362 Phe71Ser F71S not reviewed Insufficiently evaluated not reviewed unknown Array rs1610645 50 120 0.416667 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BC051362 Arg82Pro R82P not reviewed Insufficiently evaluated not reviewed unknown Array rs45479291 7 124 0.0564516 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AK310256 Ala111Gly A111G not reviewed Insufficiently evaluated not reviewed unknown Array rs1611210 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC051362 Arg147Gly R147G not reviewed Insufficiently evaluated not reviewed unknown Array rs1611210 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001004349 Ile30Val I30V not reviewed Insufficiently evaluated not reviewed unknown Array rs2516707 43 120 0.358333 29 0 37 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001004349 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs2023478 47 128 0.367188 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001004349 Cys172Tyr C172Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2516700 47 128 0.367188 33 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NCRNA00243 Val158Met V158M not reviewed Insufficiently evaluated not reviewed unknown Array rs886424 11 128 0.0859375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NCRNA00243 Pro90Arg P90R not reviewed Insufficiently evaluated not reviewed unknown Array rs886423 17 128 0.132812 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DPCR1 Glu137Lys E137K not reviewed Insufficiently evaluated not reviewed unknown Array rs3132580 13 128 0.101562 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRRC2A Thr544Lys T544K not reviewed Insufficiently evaluated not reviewed unknown Array rs1046080 47 0 75 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRRC2A Leu1503Pro L1503P not reviewed Insufficiently evaluated not reviewed unknown Array rs2272593 48 0 76 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRRC2A Arg1740His R1740H not reviewed Insufficiently evaluated not reviewed unknown Array rs1046089 33 0 39 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRRC2A Leu1895Val L1895V not reviewed Insufficiently evaluated not reviewed unknown Array rs3132453 54 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRRC2A Pro2006Ser P2006S not reviewed Insufficiently evaluated not reviewed unknown Array rs10885 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPANK1 Arg41Leu R41L not reviewed Insufficiently evaluated not reviewed unknown Array rs3130618 2027 10758 0.188418 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 1 N - - AK123889 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3132966 24 128 0.1875 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK123889 Met148Thr M148T not reviewed Insufficiently evaluated not reviewed unknown Array rs9268055 26 128 0.203125 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK309797 Ser92Ile S92I not reviewed Insufficiently evaluated not reviewed unknown Array rs974357 111 120 0.925 47 0 90 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TMEM217 Ser170Leu S170L not reviewed Insufficiently evaluated not reviewed unknown Array rs1224329 89 128 0.695312 48 0 74 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TMEM217 Leu131Phe L131F not reviewed Insufficiently evaluated not reviewed unknown Array rs1150789 69 128 0.539062 40 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM217 Phe75Leu F75L not reviewed Insufficiently evaluated not reviewed unknown Array rs1150790 97 128 0.757812 51 0 82 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX747174 His29Arg H29R not reviewed Insufficiently evaluated not reviewed unknown Array rs3003941 70 128 0.546875 43 0 55 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TFEB Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array rs1015149 12 46 0.26087 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CAPN11 Ile484Val I484V not reviewed Insufficiently evaluated not reviewed unknown Array rs34710081 18 128 0.140625 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AX746830 Tyr90Asp Y90D not reviewed Insufficiently evaluated not reviewed unknown Array rs6928338 10465 10610 0.986334 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF142 Ser844Thr S844T not reviewed Insufficiently evaluated not reviewed unknown Array rs6934690 100 124 0.806452 49 0 81 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C6ORF142 Gly906Arg G906R not reviewed Insufficiently evaluated not reviewed unknown Array rs11757700 81 128 0.632812 43 0 66 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRIM2 His445Gln H445Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4294007 7580 9882 0.767051 50 0 76 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRIM2 Arg452Ser R452S not reviewed Insufficiently evaluated not reviewed unknown Array rs5001076 3387 9920 0.341431 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GABRR1 Met20Val M20V not reviewed Insufficiently evaluated not reviewed unknown Array rs12200969 53 128 0.414062 30 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MMS22L Thr564Met T564M not reviewed Insufficiently evaluated not reviewed unknown Array rs9481410 7204 10758 0.669641 44 0 65 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 0 N - - C6ORF112 Ile88Asn I88N not reviewed Insufficiently evaluated not reviewed unknown Array rs41285464 5 118 0.0423729 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM1 Asp167Glu D167E not reviewed Insufficiently evaluated not reviewed unknown Array rs811925 15 128 0.117188 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK094715 Asp363Gly D363G not reviewed Insufficiently evaluated not reviewed unknown Array rs1040285 85 128 0.664062 50 0 73 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK094715 Pro419Ser P419S not reviewed Insufficiently evaluated not reviewed unknown Array rs949882 52 124 0.419355 35 0 45 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - BC107113 Ile84Thr I84T not reviewed Insufficiently evaluated not reviewed unknown Array rs6927569 79 128 0.617188 46 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VNN1 Stop514Gln X514Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729583 340 10756 0.0316103 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VNN3 Ala112Thr A112T not reviewed Insufficiently evaluated not reviewed unknown Array rs9483495 731 4586 0.159398 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC032958 Pro31Ser P31S not reviewed Insufficiently evaluated not reviewed unknown Array rs942132 117 128 0.914062 51 0 95 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC104461 Gln173Arg Q173R not reviewed Insufficiently evaluated not reviewed unknown Array rs9399249 84 124 0.677419 46 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCMT1 Val120Ile V120I not reviewed Insufficiently evaluated not reviewed unknown Array rs4816 79 124 0.637097 41 0 66 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001099267 Lys74Thr K74T not reviewed Insufficiently evaluated not reviewed unknown Array rs997389 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001099267 Lys74Glu K74E not reviewed Insufficiently evaluated not reviewed unknown Array rs997769 69 128 0.539062 32 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001129895 Asn156Ser N156S not reviewed Insufficiently evaluated not reviewed unknown Array rs2015545 854 3234 0.264069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001129895 Pro108Gln P108Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9364374 192 3232 0.0594059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001129895 Gln52Pro Q52P not reviewed Insufficiently evaluated not reviewed unknown Array rs4708616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_015343 Gly33Val G33V not reviewed Insufficiently evaluated not reviewed unknown Array rs6862 3411 9958 0.342539 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - USP42 Leu1029Pro L1029P not reviewed Insufficiently evaluated not reviewed unknown Array rs6463529 6 26 0.230769 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK027618 Phe744Cys F744C not reviewed Insufficiently evaluated not reviewed unknown Array rs2192828 103 128 0.804688 50 0 88 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK027618 Cys557Phe C557F not reviewed Insufficiently evaluated not reviewed unknown Array rs17165872 4 126 0.031746 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK027618 Gln515Lys Q515K not reviewed Insufficiently evaluated not reviewed unknown Array rs6967385 77 120 0.641667 43 0 70 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK027618 Thr291Met T291M not reviewed Insufficiently evaluated not reviewed unknown Array rs2053380 93 128 0.726562 49 0 75 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK027618 Lys223Asn K223N not reviewed Insufficiently evaluated not reviewed unknown Array rs6460939 48 126 0.380952 34 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK027618 Cys149Phe C149F not reviewed Insufficiently evaluated not reviewed unknown Array rs17165906 24 128 0.1875 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK027618 Glu128Lys E128K not reviewed Insufficiently evaluated not reviewed unknown Array rs17165910 24 128 0.1875 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK027618 Tyr63His Y63H not reviewed Insufficiently evaluated not reviewed unknown Array rs3823844 29 128 0.226562 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DNAH11 Asn2641Ser N2641S not reviewed Insufficiently evaluated not reviewed unknown Array rs9639393 5174 9788 0.528606 31 0 38 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - DNAH11 Ile3040Thr I3040T not reviewed Insufficiently evaluated not reviewed unknown Array rs28751578 176 10334 0.0170312 4 0 6 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Val3715Leu V3715L not reviewed Insufficiently evaluated not reviewed unknown Array rs4722064 5766 9558 0.603264 35 0 52 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - DNAH11 Ser3765Pro S3765P not reviewed Insufficiently evaluated not reviewed unknown Array rs17145720 873 10280 0.0849222 8 0 10 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 1 N - - DNAH11 Met4172Val M4172V not reviewed Insufficiently evaluated not reviewed unknown Array rs6461613 7291 10154 0.718042 41 0 65 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 1 N - - DNAH11 Thr4177Ile T4177I not reviewed Insufficiently evaluated not reviewed unknown Array rs12537531 3592 9918 0.36217 30 0 39 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 1 N - - NM_001126493 Phe29Val F29V not reviewed Insufficiently evaluated not reviewed unknown Array rs177484 1908 3234 0.589981 49 0 76 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TRIL Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array rs740250 9447 10646 0.887376 49 0 87 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DQ579940 Gln42His Q42H not reviewed Insufficiently evaluated not reviewed unknown Array rs10225523 21 128 0.164062 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DQ587659 Phe81Cys F81C not reviewed Insufficiently evaluated not reviewed unknown Array rs10258473 18 128 0.140625 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DQ587659 Leu8Arg L8R not reviewed Insufficiently evaluated not reviewed unknown Array rs1728537 38 120 0.316667 27 0 32 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NOD1 Asp81Val D81V not reviewed Insufficiently evaluated not reviewed unknown Array rs5743335 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GHRHR Thr6Ile T6I not reviewed Insufficiently evaluated not reviewed unknown Array rs740336 548 10758 0.0509388 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RP9P Trp60Arg W60R not reviewed Insufficiently evaluated not reviewed unknown Array rs2893440 89 128 0.695312 41 0 67 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RP9P Asn17Ser N17S not reviewed Insufficiently evaluated not reviewed unknown Array rs3750077 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC017861 Arg116Gly R116G not reviewed Insufficiently evaluated not reviewed unknown Array 2446 9536 0.256502 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC017861 Asn58Ser N58S not reviewed Insufficiently evaluated not reviewed unknown Array rs4629747 2744 9894 0.27734 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC017861 Tyr57Asp Y57D not reviewed Insufficiently evaluated not reviewed unknown Array rs4434531 3492 9908 0.352442 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TRGV5 Ser200Arg S200R not reviewed Insufficiently evaluated not reviewed unknown Array rs62445007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRGV5 Leu153Phe L153F not reviewed Insufficiently evaluated not reviewed unknown Array rs62445008 17 90 0.188889 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NACAD Cys1059Phe C1059F not reviewed Insufficiently evaluated not reviewed unknown Array rs3735493 8 96 0.0833333 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NACAD Asp1012Glu D1012E not reviewed Insufficiently evaluated not reviewed unknown Array rs10243185 47 110 0.427273 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NACAD Ala926Val A926V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740895 24 124 0.193548 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NACAD Pro804Ser P804S not reviewed Insufficiently evaluated not reviewed unknown Array rs10276748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - NACAD Pro772Leu P772L not reviewed Insufficiently evaluated not reviewed unknown Array rs10276874 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NACAD Glu559Asp E559D not reviewed Insufficiently evaluated not reviewed unknown Array rs7809895 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NACAD Val548Ala V548A not reviewed Insufficiently evaluated not reviewed unknown Array rs7790844 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NACAD Ile532Leu I532L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740887 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - -2 - 1 N - - NACAD Lys498Glu K498E not reviewed Insufficiently evaluated not reviewed unknown Array rs7777835 60 108 0.555556 37 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NACAD Val405Ala V405A not reviewed Insufficiently evaluated not reviewed unknown Array rs3735494 38 122 0.311475 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NACAD Asp345Glu D345E not reviewed Insufficiently evaluated not reviewed unknown Array rs3735495 32 128 0.25 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ABCA13 His1361Arg H1361R not reviewed Insufficiently evaluated not reviewed unknown Array rs17547830 27 124 0.217742 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA13 Arg2619Trp R2619W not reviewed Insufficiently evaluated not reviewed unknown Array rs2222648 104 128 0.8125 49 0 84 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCA13 Lys4391Glu K4391E not reviewed Insufficiently evaluated not reviewed unknown Array rs6583448 128 128 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDC14C Ser387Gly S387G not reviewed Insufficiently evaluated not reviewed unknown Array rs388312 50 78 0.641026 28 0 50 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HPVC1 Phe118Ser F118S not reviewed Insufficiently evaluated not reviewed unknown Array rs6971391 60 96 0.625 34 0 51 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SUMF2 Asp51Glu D51E not reviewed Insufficiently evaluated not reviewed unknown Array rs4245575 108 108 1 44 0 88 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SUMF2 Asp211Asn D211N not reviewed Insufficiently evaluated not reviewed unknown Array rs35384521 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DQ581928 Val97Met V97M not reviewed Insufficiently evaluated not reviewed unknown Array rs12671601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ581928 Ala88Val A88V not reviewed Insufficiently evaluated not reviewed unknown Array rs12667117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF138 Gly62Glu G62E not reviewed Insufficiently evaluated not reviewed unknown Array rs10949946 56 128 0.4375 32 0 43 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF138 Phe67Tyr F67Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4236203 126 128 0.984375 52 0 102 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_181722 Phe206Leu F206L not reviewed Insufficiently evaluated not reviewed unknown Array rs6974355 82 110 0.745455 42 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_181722 Pro157Ser P157S not reviewed Insufficiently evaluated not reviewed unknown Array rs11769079 44 120 0.366667 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_181722 Ser126Pro S126P not reviewed Insufficiently evaluated not reviewed unknown Array rs11765965 48 122 0.393443 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001039487 Lys303Arg K303R not reviewed Insufficiently evaluated not reviewed unknown Array rs7056 5359 10740 0.498976 30 0 42 0 0 - - - - - - - - - - - - - - - - 0.027 - - -3 - 0 N - - NM_001039576 Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array rs7050 3824 10742 0.355986 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SPDYE5 Asn237Lys N237K not reviewed Insufficiently evaluated not reviewed unknown Array rs62477724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 1 N - - C7ORF63 Ser808Arg S808R not reviewed Insufficiently evaluated not reviewed unknown Array rs7803620 115 128 0.898438 52 0 94 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C7ORF63 Thr839Met T839M not reviewed Insufficiently evaluated not reviewed unknown Array rs1134956 57 128 0.445312 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC022382 Pro73Ala P73A not reviewed Insufficiently evaluated not reviewed unknown Array rs2301806 44 128 0.34375 31 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZAN Phe1968Leu F1968L not reviewed Insufficiently evaluated not reviewed unknown Array rs542137 3189 10150 0.314187 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZAN Ser2034Thr S2034T not reviewed Insufficiently evaluated not reviewed unknown Array rs539445 3243 10386 0.312247 29 0 38 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZAN Leu2110Pro L2110P not reviewed Insufficiently evaluated not reviewed unknown Array rs531503 3794 10238 0.37058 35 0 40 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZAN Trp2429Arg W2429R not reviewed Insufficiently evaluated not reviewed unknown Array rs191137 9104 9764 0.932405 55 0 103 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MUC3A Ala190Ser A190S not reviewed Insufficiently evaluated not reviewed unknown Array rs62483699 50 110 0.454545 45 0 45 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC3A Ser196Pro S196P not reviewed Insufficiently evaluated not reviewed unknown Array rs62483700 52 112 0.464286 46 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EMID2 Ala408Thr A408T not reviewed Insufficiently evaluated not reviewed unknown Array rs17393069 3774 10008 0.377098 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK097289 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array rs7384395 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DPY19L2P2 His375Tyr H375Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2909183 17 128 0.132812 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DPY19L2P2 Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array rs62481620 11 116 0.0948276 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ST7OT4 His97Arg H97R not reviewed Insufficiently evaluated not reviewed unknown Array rs6960131 128 128 1 55 0 110 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001085391 Phe150Val F150V not reviewed Insufficiently evaluated not reviewed unknown Array rs6466786 111 128 0.867188 52 0 93 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001085395 Ile16Val I16V not reviewed Insufficiently evaluated not reviewed unknown Array rs2402730 13 126 0.103175 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C7ORF54 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array rs17151639 27 128 0.210938 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NR_002144 Gln280Arg Q280R not reviewed Insufficiently evaluated not reviewed unknown Array rs10247566 103 120 0.858333 50 0 88 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_002144 Tyr307His Y307H not reviewed Insufficiently evaluated not reviewed unknown Array rs7809681 103 120 0.858333 50 0 88 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NR_002144 Leu312Arg L312R not reviewed Insufficiently evaluated not reviewed unknown Array rs7809687 101 118 0.855932 49 0 86 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001126311 Arg76Lys R76K not reviewed Insufficiently evaluated not reviewed unknown Array rs357373 100 128 0.78125 48 0 79 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NM_001126311 Lys59Gln K59Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7796289 27 128 0.210938 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NR_003715 Phe327Leu F327L not reviewed Insufficiently evaluated not reviewed unknown Array rs6464465 60 128 0.46875 39 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - M97709 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs361340 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6W1P Pro192His P192H not reviewed Insufficiently evaluated not reviewed unknown Array rs61739257 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM115C His480Asn H480N not reviewed Insufficiently evaluated not reviewed unknown Array rs58566199 16 54 0.296296 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM115C His506Asn H506N not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2A42 Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001126313 Thr130Ala T130A not reviewed Insufficiently evaluated not reviewed unknown Array rs2530301 36 36 1 14 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AF035281 Gln119Arg Q119R not reviewed Insufficiently evaluated not reviewed unknown Array rs13236978 85 122 0.696721 45 0 78 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRBA1 Asp660Glu D660E not reviewed Insufficiently evaluated not reviewed unknown Array rs709065 8823 9312 0.947487 49 0 93 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC040865 Leu13Pro L13P not reviewed Insufficiently evaluated not reviewed unknown Array rs9648725 37 128 0.289062 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RBM33 Thr584Ala T584A not reviewed Insufficiently evaluated not reviewed unknown Array rs3735576 49 128 0.382812 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC022082 Asp60Asn D60N not reviewed Insufficiently evaluated not reviewed unknown Array rs61188389 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AX747124 Cys9Tyr C9Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2618845 125 128 0.976562 55 0 107 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX747124 Met26Val M26V not reviewed Insufficiently evaluated not reviewed unknown Array rs60413119 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747124 Arg83Cys R83C not reviewed Insufficiently evaluated not reviewed unknown Array rs7008255 50 0 80 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AX747124 Lys103Thr K103T not reviewed Insufficiently evaluated not reviewed unknown Array rs12547598 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AB209502 Thr1954Met T1954M not reviewed Insufficiently evaluated not reviewed unknown Array rs6558702 86 128 0.671875 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AB209502 Met1506Ile M1506I not reviewed Insufficiently evaluated not reviewed unknown Array rs6995799 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001080826 Gly1222Ser G1222S not reviewed Insufficiently evaluated not reviewed unknown Array rs13269488 4756 9636 0.493566 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C8ORF49 Gly26Arg G26R not reviewed Insufficiently evaluated not reviewed unknown Array rs804285 127 128 0.992188 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C8ORF49 Arg95Gly R95G not reviewed Insufficiently evaluated not reviewed unknown Array rs13281294 15 128 0.117188 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM86B1 Glu82Lys E82K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC037255 Glu171Ala E171A not reviewed Insufficiently evaluated not reviewed unknown Array rs658131 2 2 1 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC037255 Gly72Arg G72R not reviewed Insufficiently evaluated not reviewed unknown Array rs2002368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSGALNACT1 Ser191Asn S191N not reviewed Insufficiently evaluated not reviewed unknown Array rs7017776 91 128 0.710938 48 0 70 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NUDT18 Met224Val M224V not reviewed Insufficiently evaluated not reviewed unknown Array rs3739435 4948 10488 0.471777 43 0 56 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - S94541 Trp22Leu W22L not reviewed Insufficiently evaluated not reviewed unknown Array rs10104250 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - S94541 Leu73Ile L73I not reviewed Insufficiently evaluated not reviewed unknown Array rs3736034 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - S94541 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array rs3174040 38 126 0.301587 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UNC5D Arg723Lys R723K not reviewed Insufficiently evaluated not reviewed unknown Array rs35487923 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AJ005372 Gly372Ser G372S not reviewed Insufficiently evaluated not reviewed unknown Array rs7813010 65 68 0.955882 29 0 57 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AJ005372 Arg356Trp R356W not reviewed Insufficiently evaluated not reviewed unknown Array rs10097769 71 106 0.669811 38 0 64 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AJ005372 Asn302Ser N302S not reviewed Insufficiently evaluated not reviewed unknown Array rs7840918 34 100 0.34 20 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AJ005372 Arg215Gly R215G not reviewed Insufficiently evaluated not reviewed unknown Array rs7845028 56 108 0.518519 29 0 49 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PRKDC Leu1531Phe L1531F not reviewed Insufficiently evaluated not reviewed unknown Array rs56387546 26 9872 0.00263371 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR611604 Met8Thr M8T not reviewed Insufficiently evaluated not reviewed unknown Array rs16922684 100 110 0.909091 46 0 84 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR611604 Met72Thr M72T not reviewed Insufficiently evaluated not reviewed unknown Array rs7816003 29 32 0.90625 14 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR611604 Ala330Thr A330T not reviewed Insufficiently evaluated not reviewed unknown Array rs3802285 111 128 0.867188 51 0 91 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR611604 Lys344Glu K344E not reviewed Insufficiently evaluated not reviewed unknown Array rs3802284 115 128 0.898438 55 0 99 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF46 Val93Met V93M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736276 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTTG3P Ile16Thr I16T not reviewed Insufficiently evaluated not reviewed unknown Array rs6472285 20 128 0.15625 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C8ORF45 Leu317Val L317V not reviewed Insufficiently evaluated not reviewed unknown Array rs17332410 2 128 0.015625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK123744 Arg200His R200H not reviewed Insufficiently evaluated not reviewed unknown Array rs3802278 31 126 0.246032 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK123744 Ala273Thr A273T not reviewed Insufficiently evaluated not reviewed unknown Array rs6990375 32 128 0.25 29 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C8ORF84 Trp181Arg W181R not reviewed Insufficiently evaluated not reviewed unknown Array rs2291219 75 126 0.595238 42 0 56 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8ORF84 Phe53Leu F53L not reviewed Insufficiently evaluated not reviewed unknown Array rs59331088 11 38 0.289474 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC127738 Glu51Gly E51G not reviewed Insufficiently evaluated not reviewed unknown Array rs2546217 44 128 0.34375 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AL832262 Leu16Ile L16I not reviewed Insufficiently evaluated not reviewed unknown Array rs11779592 27 128 0.210938 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - REXO1L1 Asn275Asp N275D not reviewed Insufficiently evaluated not reviewed unknown Array rs4739703 4 4 1 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AX748380 Trp36Gly W36G not reviewed Insufficiently evaluated not reviewed unknown Array rs7011702 27 128 0.210938 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AX748380 Val89Ile V89I not reviewed Insufficiently evaluated not reviewed unknown Array rs3108849 126 128 0.984375 55 0 109 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MAL2 Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303398 957 9980 0.0958918 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DEPTOR Asn204Ser N204S not reviewed Insufficiently evaluated not reviewed unknown Array rs2271900 50 0 71 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_002304 Lys182Thr K182T not reviewed Insufficiently evaluated not reviewed unknown Array rs13273814 35 128 0.273438 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OC90 Ser131Gly S131G not reviewed Insufficiently evaluated not reviewed unknown Array rs7386782 88 128 0.6875 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OC90 Asn128Asp N128D not reviewed Insufficiently evaluated not reviewed unknown Array rs7386783 88 128 0.6875 48 0 77 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HHLA1 Leu247Ser L247S not reviewed Insufficiently evaluated not reviewed unknown Array rs2280851 97 128 0.757812 49 0 83 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HHLA1 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array rs2403730 33 128 0.257812 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_207414 Gly1087Ser G1087S not reviewed Insufficiently evaluated not reviewed unknown Array rs11782383 3759 10424 0.36061 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_207414 Gly838Glu G838E not reviewed Insufficiently evaluated not reviewed unknown Array rs7003306 126 126 1 54 0 108 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_207414 Cys811Arg C811R not reviewed Insufficiently evaluated not reviewed unknown Array rs28439396 1894 10520 0.180038 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NM_207414 Pro792Leu P792L not reviewed Insufficiently evaluated not reviewed unknown Array rs28504323 1880 10452 0.17987 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_207414 Arg435Gln R435Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6997753 432 10418 0.0414667 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_207414 Leu289Met L289M not reviewed Insufficiently evaluated not reviewed unknown Array rs2748416 8144 10090 0.807136 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NM_207414 Gly90Cys G90C not reviewed Insufficiently evaluated not reviewed unknown Array rs2748404 7094 10616 0.668237 47 0 76 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_207414 Leu74Pro L74P not reviewed Insufficiently evaluated not reviewed unknown Array rs2613637 6556 10618 0.617442 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - JRK Gly476Arg G476R not reviewed Insufficiently evaluated not reviewed unknown Array rs2976399 3723 10318 0.360826 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AY277601 Trp339Arg W339R not reviewed Insufficiently evaluated not reviewed unknown Array rs11774027 36 106 0.339623 17 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AY277601 Leu189Pro L189P not reviewed Insufficiently evaluated not reviewed unknown Array rs56010327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPPK1 Lys519Glu K519E not reviewed Insufficiently evaluated not reviewed unknown Array rs13255110 27 76 0.355263 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPPK1 Gly359Glu G359E not reviewed Insufficiently evaluated not reviewed unknown Array rs58368323 9 126 0.0714286 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TONSL Gly334Ser G334S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229315 64 124 0.516129 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF252 Thr189Pro T189P not reviewed Insufficiently evaluated not reviewed unknown Array rs12678688 40 128 0.3125 28 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF252 Cys167Arg C167R not reviewed Insufficiently evaluated not reviewed unknown Array rs2979109 78 128 0.609375 42 0 71 0 0 - - - - - - - - - - - - - - - - 0.347 - - 8 Y 0 N - - TMED10P1 Glu59Lys E59K not reviewed Insufficiently evaluated not reviewed unknown Array rs4489360 37 116 0.318966 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF77 Leu84Ile L84I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294043 41 128 0.320312 32 0 45 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - IFNA13 Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANXA2 Ala271Pro A271P not reviewed Insufficiently evaluated not reviewed unknown Array rs10758216 42 128 0.328125 31 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1161 Phe384Tyr F384Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7852399 2109 10438 0.20205 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIAA1161 Asp52Glu D52E not reviewed Insufficiently evaluated not reviewed unknown Array rs4879781 9657 10200 0.946765 48 0 86 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK056723 Arg56His R56H not reviewed Insufficiently evaluated not reviewed unknown Array rs41302059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2S2 Val277Ala V277A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233570 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2S2 Met133Val M133V not reviewed Insufficiently evaluated not reviewed unknown Array rs2233564 47 128 0.367188 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2S2 Arg7Gly R7G not reviewed Insufficiently evaluated not reviewed unknown Array rs2233558 50 128 0.390625 35 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC036230 Gly53Asp G53D not reviewed Insufficiently evaluated not reviewed unknown Array rs1815549 26 112 0.232143 15 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK122718 Gly27Asp G27D not reviewed Insufficiently evaluated not reviewed unknown Array rs1110222 1708 4586 0.372438 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK122718 Lys72Glu K72E not reviewed Insufficiently evaluated not reviewed unknown Array rs1110223 1706 4586 0.372002 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK122718 Thr95Met T95M not reviewed Insufficiently evaluated not reviewed unknown Array rs3001772 2691 4586 0.586786 43 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK122718 Arg118His R118H not reviewed Insufficiently evaluated not reviewed unknown Array rs2495207 1748 4586 0.38116 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK122718 Glu166Gln E166Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2803429 1743 4586 0.38007 28 0 32 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK122718 Asp451Glu D451E not reviewed Insufficiently evaluated not reviewed unknown Array rs7036921 1335 4582 0.291357 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_001100111 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array rs28550932 1848 9874 0.187158 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001100111 Asn41Tyr N41Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28429833 1848 9876 0.18712 26 0 28 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C9ORF174 Phe1146Leu F1146L not reviewed Insufficiently evaluated not reviewed unknown Array rs3747495 1812 10758 0.168433 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR610374 Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array rs1330811 53 126 0.420635 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC141829 Gly46Glu G46E not reviewed Insufficiently evaluated not reviewed unknown Array rs12377832 9 126 0.0714286 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AL834139 Arg822His R822H not reviewed Insufficiently evaluated not reviewed unknown Array rs10793975 85 128 0.664062 50 0 76 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_013318 Met417Val M417V not reviewed Insufficiently evaluated not reviewed unknown Array rs34553878 988 10744 0.0919583 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_013318 Thr936Ser T936S not reviewed Insufficiently evaluated not reviewed unknown Array rs10736851 7223 9686 0.745715 21 0 33 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_013318 Pro981Leu P981L not reviewed Insufficiently evaluated not reviewed unknown Array rs10751478 7643 10276 0.743772 21 0 33 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_013318 Met1044Thr M1044T not reviewed Insufficiently evaluated not reviewed unknown Array rs10793873 9489 9694 0.978853 24 0 45 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_013318 Ala1276Val A1276V not reviewed Insufficiently evaluated not reviewed unknown Array rs11243403 5343 9986 0.535049 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EEF1A1 Met264Thr M264T not reviewed Insufficiently evaluated not reviewed unknown Array rs4431706 21 28 0.75 9 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABO Val276Met V276M not reviewed Insufficiently evaluated not reviewed unknown Array rs8176748 2396 10250 0.233756 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABO Phe215Ile F215I not reviewed Insufficiently evaluated not reviewed unknown Array rs8176740 2391 10592 0.225736 24 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABO Pro155Leu P155L not reviewed Insufficiently evaluated not reviewed unknown Array rs1053878 1102 9850 0.111878 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AF129264 Arg36Gln R36Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6271 2 112 0.0178571 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK090416 Gly155Arg G155R not reviewed Insufficiently evaluated not reviewed unknown Array rs2234753 7975 8880 0.898086 45 0 76 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF62 Trp140Gly W140G not reviewed Insufficiently evaluated not reviewed unknown Array rs914397 95 126 0.753968 50 0 81 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCA2 His514Pro H514P not reviewed Insufficiently evaluated not reviewed unknown Array rs908828 80 80 1 30 0 60 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CR593643 Thr41Met T41M not reviewed Insufficiently evaluated not reviewed unknown Array rs12353121 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR593643 Val76Gly V76G not reviewed Insufficiently evaluated not reviewed unknown Array rs9410092 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CR593643 Lys141Arg K141R not reviewed Insufficiently evaluated not reviewed unknown Array rs9410186 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CR593643 Ile281Val I281V not reviewed Insufficiently evaluated not reviewed unknown Array rs7869352 86 104 0.826923 43 0 75 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR593643 Ala293Gly A293G not reviewed Insufficiently evaluated not reviewed unknown Array rs7863719 77 110 0.7 42 0 63 0 0 - - - - - - - - - - - - - - - - 0.169 - - 1 - 0 N - - AF391805 Thr156Ala T156A not reviewed Insufficiently evaluated not reviewed unknown Array rs28573847 29 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HDHD1 Thr74Met T74M not reviewed Insufficiently evaluated not reviewed unknown Array rs1131197 18 90 0.2 13 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WASF4 Val221Gly V221G not reviewed Insufficiently evaluated not reviewed unknown Array rs909713 61 92 0.663043 43 0 73 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - WASF4 Arg297Lys R297K not reviewed Insufficiently evaluated not reviewed unknown Array rs1207505 60 92 0.652174 43 0 72 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - WASF4 Ile560Val I560V not reviewed Insufficiently evaluated not reviewed unknown Array rs1207506 9 89 0.101124 8 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AX746688 Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5937177 29 92 0.315217 21 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZMAT1 Gln593Arg Q593R not reviewed Insufficiently evaluated not reviewed unknown Array rs5944882 92 92 1 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GLRA4 Ile44Val I44V not reviewed Insufficiently evaluated not reviewed unknown Array rs4907817 91 92 0.98913 52 0 104 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001127577 Gln141Stop Q141X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP4B1 Asp295Shift D295Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3215983 17 128 0.132812 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - L1TD1 Leu602Shift L602Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001093734 Asn120Shift N120Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71588885 11 122 0.0901639 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MOV10 Leu751Shift L751Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDE4DIP Leu601Shift L601Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66512216 12 120 0.1 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF56 Ser143Shift S143Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPATCH4 Phe357Shift F357Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10637036 128 128 1 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF9 Asn493Shift N493Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AL136902 Asp141Shift D141Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHIT1 Val357ValStop V357VX not reviewed Insufficiently evaluated not reviewed unknown Array rs3831317 2 128 0.015625 17 0 17 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 2 N - - OR2B11 Phe8Shift F8Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35305980 15 126 0.119048 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2C3 Tyr219Shift Y219Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITIH5 Asp933Shift D933Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71806144 117 128 0.914062 50 0 54 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C10ORF113 Ser22Shift S22Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs45546236 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNLIPRP2 Val20Shift V20Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56189579 124 128 0.96875 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - H19 Gly355Arg G355R not reviewed Insufficiently evaluated not reviewed unknown Array rs2839701 1708 4586 0.372438 27 0 36 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - C11ORF40 Met201Shift M201Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3064108 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR51I2 Asn239Shift N239Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71053261 1 128 0.0078125 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CREB3L1 Asp508Shift D508Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71038900 124 128 0.96875 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DIXDC1 Gly61Shift G61Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11455434 118 128 0.921875 49 0 98 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs56862614 40 0 65 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - VPS11 Leu74Shift L74Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57713367 119 126 0.944444 48 0 95 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EI24 Leu245Shift L245Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55912941 121 126 0.960317 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EMG1 Ser42Shift S42Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs17857448 122 122 1 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLECL1 Ser52Shift S52Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71045297 1 128 0.0078125 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PIK3C2G His1227Shift H1227Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR10AD1 Ser68Shift S68Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58864350 35 128 0.273438 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT1 SerSerTyrGlySerGlyGly557Del SSYGSGG557Del not reviewed Insufficiently evaluated not reviewed unknown Array rs61226348 40 94 0.425532 17 0 17 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - AK096472 Thr52Shift T52Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5798234 4 122 0.0327869 47 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR9K2 Leu13Shift L13Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58036029 48 128 0.375 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR6C1 Glu9Shift E9Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35291292 40 128 0.3125 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SDSL Leu229Shift L229Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MED13L Asp1666Shift D1666Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs57270423 17 0 31 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - OR4L1 Ile83Shift I83Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs33965693 61 126 0.484127 33 0 33 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK125397 Asp87Shift D87Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3216790 55 128 0.429688 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF23 Lys116Shift K116Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56025822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Pro269Ala P269A not reviewed Insufficiently evaluated not reviewed unknown Array rs28507600 45 128 0.351562 25 0 33 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 2 N - - SLC24A1 Pro401Shift P401Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10710333 128 128 1 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs41371354 92 128 0.71875 31 0 58 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - NR2E3 Thr318Shift T318Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55835406 128 128 1 53 0 53 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PGPEP1L Val165Shift V165Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5814919 46 126 0.365079 25 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC016019 Leu3Shift L3Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3838366 24 128 0.1875 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK123137 Arg15Shift R15Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55969374 66 112 0.589286 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HYDIN Gln3904Shift Q3904Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57797337 64 128 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - P2RX5 Asn112Shift N112Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3215407 65 126 0.515873 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SENP3 Lys436Shift K436Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58837213 126 128 0.984375 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC46A1 Phe410Shift F410Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59366616 128 128 1 51 0 51 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - CCDC43 Arg216Shift R216Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DCAF7 Gly187Shift G187Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67652163 128 128 1 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK123771 Thr75Shift T75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 18 128 0.140625 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSPAN10 Asn226Shift N226Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10536197 91 120 0.758333 41 0 41 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDH7 Asp685Shift D685Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK098244 Gln685Shift Q685Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58978051 46 128 0.359375 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBN3 Val495Shift V495Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MUC16 Thr13915Shift T13915Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs111468097 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR7G3 Ser310Shift S310Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3029651 2 128 0.015625 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP4F8 Val150Shift V150Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55848814 124 128 0.96875 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LTBP4 Tyr1079Shift Y1079Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59030801 122 126 0.968254 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEACAM20 Asp484Shift D484Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55826919 8 126 0.0634921 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYT3 Leu360Shift L360Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ETFB Pro94Shift P94Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55874945 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SIGLEC12 Ala66Shift A66Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66949844 111 128 0.867188 46 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF274 Ala72Shift A72Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59557917 122 128 0.953125 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC029459 Arg166Shift R166Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3214485 122 128 0.953125 50 0 97 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HADHB Thr2ThrThr T2TT not reviewed Insufficiently evaluated not reviewed unknown Array rs59947000 1 128 0.0078125 44 0 44 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - KIAA1841 Gly695Shift G695Shift not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD207 Glu25Shift E25Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11450450 120 128 0.9375 49 0 98 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALMS1 Ser524SerPro S524SP not reviewed Insufficiently evaluated not reviewed unknown Array rs34628045 74 128 0.578125 40 0 40 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - TEKT4 Phe34Shift F34Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34195690 9 78 0.115385 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTN Gln31345His Q31345H not reviewed Insufficiently evaluated not reviewed unknown Array rs55886356 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Val31312Ile V31312I not reviewed Insufficiently evaluated not reviewed unknown Array rs34924609 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ile23648Thr I23648T not reviewed Insufficiently evaluated not reviewed unknown Array rs12463674 22 128 0.171875 11 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - MARCH4 Ser133Shift S133Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DEFB126 Pro106Shift P106Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11467417 3 128 0.0234375 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADNP Ala1102Shift A1102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAE1 Asn277Shift N277Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRTAP19-6 Tyr58Shift Y58Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5843453 101 128 0.789062 48 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C21ORF62 Asn182Shift N182Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11390393 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAJC28 Leu316Shift L316Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3834674 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SON Ala2413Shift A2413Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34377180 112 128 0.875 45 0 90 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SON Arg2416Shift R2416Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34373121 126 126 1 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001001692 Gln27Shift Q27Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5843936 85 128 0.664062 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOL4 Phe111Shift F111Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3075364 53 102 0.519608 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTLL1 Ser229Shift S229Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBLN2 Gly314Shift G314Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11365766 8 128 0.0625 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XPC Asp472Shift D472Shift benign Low clinical importance, Likely benign unknown Array rs71624949 128 128 1 50 0 100 0 0 - - - - 5 Y 0 Y 0 - 0 - Y - - - - Y Y 4 Y 3 N 0 1 This variant is found homozygously in all genomes. It may represent an error in the build 36 reference genome, in UCSC's knownGene transcript annotation, a consistent sequencing error, or some error in our own processing of genome data. XPC Ser449Shift S449Shift benign Low clinical importance, Likely benign unknown Array rs11339193 128 128 1 50 0 50 0 0 - - - - 5 Y 0 Y 0 - 0 - Y - - - - Y Y 4 Y 3 N 0 1 This variant is called heterozygously in all Complete Genomics genomes (build 36) we have examined. This almost certainly represents a consistent sequencing error (see Roach et al. 2010's description of "compression block"). GRIP2 Gln438Shift Q438Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57575308 124 128 0.96875 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC101286 Pro150Shift P150Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60782286 93 110 0.845455 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMIE Lys131Del K131Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10578999 54 84 0.642857 31 0 31 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - SLC38A3 Val34Shift V34Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5848902 118 126 0.936508 48 0 96 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Cys740Shift C740Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs17028799 57 120 0.475 44 0 44 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Thr474Shift T474Shift not reviewed Insufficiently evaluated not reviewed unknown Array 24 126 0.190476 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Tyr55Shift Y55Shift not reviewed Insufficiently evaluated not reviewed unknown Array 23 110 0.209091 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR5K4 Ile301Shift I301Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11288615 41 118 0.347458 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC101231 Thr113Shift T113Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34976355 40 120 0.333333 31 0 33 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RETNLB Leu14Shift L14Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5851607 6 128 0.046875 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL6A5 Ile1044Shift I1044Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARHGEF26 Ser742Shift S742Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58450352 114 124 0.919355 43 0 43 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HTR3E Glu22Shift E22Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5855015 2 128 0.015625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLDN16 Arg55Shift R55Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56086318 22 128 0.171875 16 0 20 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PTPN13 Ser443Shift S443Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRSS48 Ser44Shift S44Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs33963901 5 124 0.0403226 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH5 Leu4086Val L4086V benign Low clinical importance, Uncertain benign recessive Array 1 128 0.0078125 1 0 1 0 0 ! Y - - 0 Y - - - - - Y Y - - - 0.993 Y Y 0 - 4 N 0 0 Tentatively evaluated as benign, although predicted to be damaging by Polyphen 2. Other recessive mutations in this gene cause primary ciliary dyskinesia and Kartagener Syndrome (situs inversus, chronic sinusitis, and bronchiectasis), but these are usually more severe (splicing, nonsense, or frameshift). SCAMP1 His243Shift H243Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66744502 122 128 0.953125 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRA1 Val110ArgLeu V110RL not reviewed Insufficiently evaluated not reviewed unknown Array rs3085220 41 114 0.359649 21 0 21 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - TIGD6 Glu345Shift E345Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3832324 76 126 0.603175 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC016647 Ala177Shift A177Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60344552 44 128 0.34375 32 0 32 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYFIP2 Gln94Shift Q94Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5872508 124 128 0.96875 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC040901 Ala106Shift A106Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1611076 2 124 0.016129 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NCRNA00243 Val86Shift V86Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3059883 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs28491949 84 84 1 31 0 62 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs33998554 4 46 0.0869565 41 0 72 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - HLA-DQA1 Ala222Thr A222T not reviewed Insufficiently evaluated not reviewed unknown Array rs35087390 82 7518 0.0109072 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HLA-DPB1 Gly114Shift G114Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs9277354 55 124 0.443548 33 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DPB1 Met116Shift M116Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1126532 55 122 0.45082 34 0 49 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRIM2 Asn298Shift N298Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66951035 49 126 0.388889 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs61464641 82 128 0.640625 47 0 70 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - PBOV1 Leu117Shift L117Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35031653 15 128 0.117188 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK125766 Arg20Stop R20X not reviewed Insufficiently evaluated not reviewed unknown Array rs117250982 2 126 0.015873 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CR607512 Val90Shift V90Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5884895 46 126 0.365079 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRRM3 Ala580Shift A580Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11402364 116 126 0.920635 46 0 92 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EMID2 Gly390Shift G390Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs36008849 8 128 0.0625 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XKR5 Val291Shift V291Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11338621 128 128 1 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PEBP4 Asn220Shift N220Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35121552 7 126 0.0555556 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBXN8 Leu208Shift L208Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71206287 124 128 0.96875 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOT1L1 Tyr232Shift Y232Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57311561 124 128 0.96875 50 0 100 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNF5P1 Ile29Shift I29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLEKHA2 Pro389Shift P389Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5891050 4 126 0.031746 52 0 52 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SQLE Gly262Shift G262Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11306475 124 124 1 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IFNK Trp13Shift W13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C5 Leu10Shift L10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLT6D1 Trp143Shift W143Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34217442 23 126 0.18254 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC093994 Glu159Shift E159Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34777219 15 101 0.148515 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC104166 Lys147Shift K147Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35084954 51 92 0.554348 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TCEAL6 Gln175Shift Q175Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11408120 2 92 0.0217391 51 0 102 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX748182 Gln73Stop Q73X not reviewed Insufficiently evaluated not reviewed unknown Array rs2301384 19 92 0.206522 13 0 21 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - NM_001039768 Trp12Shift W12Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66466703 86 90 0.955556 48 0 96 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAS1R3 Ser777Del S777Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHM2 Val756Ile V756I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCEB3 Thr119Met T119M not reviewed Insufficiently evaluated not reviewed unknown Array rs2235541 10 128 0.078125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF683 LeuGlyHisProSerAlaArgTrp243Del LGHPSARW243Del not reviewed Insufficiently evaluated not reviewed unknown Array 26 128 0.203125 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC104455 Lys124Asn K124N not reviewed Insufficiently evaluated not reviewed unknown Array rs1574106 79 128 0.617188 47 0 68 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MACF1 Ala4849Thr A4849T not reviewed Insufficiently evaluated not reviewed unknown Array rs587404 51 126 0.404762 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MACF1 Ser5169Thr S5169T not reviewed Insufficiently evaluated not reviewed unknown Array rs668556 71 128 0.554688 39 0 58 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KLF17 Asn378Del N378Del not reviewed Insufficiently evaluated not reviewed unknown Array rs34057178 24 116 0.206897 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AY254217 Gly119Arg G119R not reviewed Insufficiently evaluated not reviewed unknown Array rs4322271 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF173 Gly1179Del G1179Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10539747 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IFI44L Ile196Thr I196T not reviewed Insufficiently evaluated not reviewed unknown Array rs987495 37 128 0.289062 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNASE2B Arg47Lys R47K not reviewed Insufficiently evaluated not reviewed unknown Array rs3754274 22 128 0.171875 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CLCA3P Asp126Glu D126E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CCDC76 Ala48Met A48M not reviewed Insufficiently evaluated not reviewed unknown Array rs35216047 88 126 0.698413 40 0 40 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SEC22B Asp70Tyr D70Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2596331 2944 10194 0.288797 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SEC22B Thr81Lys T81K not reviewed Insufficiently evaluated not reviewed unknown Array rs2794053 63 126 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SEC22B Arg107Gln R107Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2655551 3700 10038 0.368599 44 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEC22B His189Arg H189R not reviewed Insufficiently evaluated not reviewed unknown Array rs2655557 64 126 0.507936 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HRNR Ala2764Ser A2764S not reviewed Insufficiently evaluated not reviewed unknown Array rs71585888 787 8240 0.0955097 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HRNR TyrGlyHisArg2746HisGlyGlnHis YGHR2746HGQH not reviewed Insufficiently evaluated not reviewed unknown Array rs71585889 72 102 0.705882 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NOS1AP Trp14Cys W14C not reviewed Insufficiently evaluated not reviewed unknown Array rs56387268 20 128 0.15625 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA0040 Gln26Lys Q26K not reviewed Insufficiently evaluated not reviewed unknown Array rs2269650 58 128 0.453125 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C1ORF99 Thr7Ser T7S not reviewed Insufficiently evaluated not reviewed unknown Array rs10157977 2541 3234 0.785714 25 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CAPN8 Thr10Met T10M not reviewed Insufficiently evaluated not reviewed unknown Array rs61823553 56 128 0.4375 34 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR2T8 AsnLeu143ThrMet NL143TM not reviewed Insufficiently evaluated not reviewed unknown Array rs71535236 94 94 1 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC050694 Cys52Arg C52R not reviewed Insufficiently evaluated not reviewed unknown Array rs7075695 31 128 0.242188 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HSPA14 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array rs12770830 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP21 Asn712Ser N712S not reviewed Insufficiently evaluated not reviewed unknown Array rs3748222 56 126 0.444444 35 0 46 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - NR_003525 His441Cys H441C not reviewed Insufficiently evaluated not reviewed unknown Array rs60813549 14 128 0.109375 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NR_003525 Thr397Ala T397A not reviewed Insufficiently evaluated not reviewed unknown Array rs7087198 116 3234 0.0358689 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_003525 Pro220Ser P220S not reviewed Insufficiently evaluated not reviewed unknown Array rs7069127 117 3234 0.0361781 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_003525 Ile151Val I151V not reviewed Insufficiently evaluated not reviewed unknown Array rs590142 674 3234 0.208411 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NR_003525 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array rs7091897 116 3234 0.0358689 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NR_003525 Ser76Phe S76F not reviewed Insufficiently evaluated not reviewed unknown Array rs7069761 116 3234 0.0358689 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTCHD3 Stop768Gln X768Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2505323 6776 10748 0.630443 40 0 62 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MARCH8 Tyr548His Y548H not reviewed Insufficiently evaluated not reviewed unknown Array rs7908745 3451 10758 0.320785 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC047597 Asp252Glu D252E not reviewed Insufficiently evaluated not reviewed unknown Array rs73302786 24 122 0.196721 18 0 20 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - BC047597 Leu183Gln L183Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 124 0.0806452 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - DDX21 Val426Gly V426G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 8 Y 2 N - - CDHR1 Lys851Del K851Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC157829 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61746133 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUSP5 Ala220Met A220M not reviewed Insufficiently evaluated not reviewed unknown Array rs35834951 124 128 0.96875 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DMBT1 His1732Ser H1732S not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MGMT Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs2308321 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - MGMT Lys178Arg K178R not reviewed Insufficiently evaluated not reviewed unknown Array rs2308327 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MUC6 Tyr1920Ser Y1920S not reviewed Insufficiently evaluated not reviewed unknown Array rs75482640 30 68 0.441176 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC6 Pro1897Ala P1897A not reviewed Insufficiently evaluated not reviewed unknown Array rs36130410 41 82 0.5 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK126380 Ala29Thr A29T not reviewed Insufficiently evaluated not reviewed unknown Array rs217719 34 128 0.265625 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK126380 Arg92Ser R92S not reviewed Insufficiently evaluated not reviewed unknown Array rs4930047 43 124 0.346774 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR52E8 Stop318Tyr X318Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12419602 49 126 0.388889 30 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AB290171 Asp1367Asn D1367N not reviewed Insufficiently evaluated not reviewed unknown Array rs11040923 39 128 0.304688 27 0 31 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CSNK2A1 Ile133Thr I133T not reviewed Insufficiently evaluated not reviewed unknown Array rs2071460 48 128 0.375 33 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC156059 Glu688Lys E688K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC126376 Trp28Ser W28S not reviewed Insufficiently evaluated not reviewed unknown Array rs2666891 80 128 0.625 42 0 68 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR4C45 Glu287Ala E287A not reviewed Insufficiently evaluated not reviewed unknown Array 64 128 0.5 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR4C45 Leu283Val L283V not reviewed Insufficiently evaluated not reviewed unknown Array 63 128 0.492188 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC142657 PheCys107SerArg FC107SR not reviewed Insufficiently evaluated not reviewed unknown Array rs71479502 59 124 0.475806 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TRIM48 Arg177Trp R177W not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - OR8U8 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 9 9934 0.000905979 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8U8 Thr53Glu T53E not reviewed Insufficiently evaluated not reviewed unknown Array 32 124 0.258065 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR8U8 Ser54Lys S54K not reviewed Insufficiently evaluated not reviewed unknown Array 33 120 0.275 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR8U8 Thr137Ser T137S not reviewed Insufficiently evaluated not reviewed unknown Array rs10791962 4 10390 0.000384985 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR8U8 Met206Thr M206T not reviewed Insufficiently evaluated not reviewed unknown Array rs10896309 36 126 0.285714 32 0 32 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - OR8U8 Ser209Cys S209C not reviewed Insufficiently evaluated not reviewed unknown Array rs12272349 36 124 0.290323 32 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR8U8 Leu211Val L211V not reviewed Insufficiently evaluated not reviewed unknown Array rs55888197 52 128 0.40625 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR9G9 Cys53His C53H not reviewed Insufficiently evaluated not reviewed unknown Array rs532637 55 114 0.482456 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR9G9 Thr62Val T62V not reviewed Insufficiently evaluated not reviewed unknown Array rs71458233 80 126 0.634921 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR9G9 Ile196Phe I196F not reviewed Insufficiently evaluated not reviewed unknown Array 35 106 0.330189 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR9G9 Tyr233Arg Y233R not reviewed Insufficiently evaluated not reviewed unknown Array rs34261633 39 124 0.314516 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TSGA10IP Thr32Ser T32S not reviewed Insufficiently evaluated not reviewed unknown Array 3 76 0.0394737 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSGA10IP Met520Val M520V not reviewed Insufficiently evaluated not reviewed unknown Array rs491973 3920 9790 0.400409 31 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C11ORF72 Pro22Thr P22T not reviewed Insufficiently evaluated not reviewed unknown Array rs12421329 3800 10752 0.353423 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ANO1 Phe582Ser F582S not reviewed Insufficiently evaluated not reviewed unknown Array rs2186797 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC67 Glu440Arg E440R not reviewed Insufficiently evaluated not reviewed unknown Array rs12288277 35 128 0.273438 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK023666 Val83Ile V83I not reviewed Insufficiently evaluated not reviewed unknown Array rs569336 48 128 0.375 29 0 40 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CWF19L2 His291Gln H291Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35968518 11 128 0.0859375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK126420 Thr111Ala T111A not reviewed Insufficiently evaluated not reviewed unknown Array rs1242127 59 128 0.460938 34 0 49 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR8G2 IleVal293ThrIle IV293TI not reviewed Insufficiently evaluated not reviewed unknown Array rs2512268 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EI24 His248Arg H248R not reviewed Insufficiently evaluated not reviewed unknown Array rs4627097 3413 9488 0.359718 28 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TEAD4 Pro250Ser P250S not reviewed Insufficiently evaluated not reviewed unknown Array rs11550887 8 128 0.0625 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AKAP3 Ser700Leu S700L not reviewed Insufficiently evaluated not reviewed unknown Array rs71441828 17 128 0.132812 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.292 - - 6 Y 0 N - - BC073935 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array rs12578609 38 126 0.301587 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KLRC3 Trp19Pro W19P not reviewed Insufficiently evaluated not reviewed unknown Array rs2682491 55 114 0.482456 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TAS2R46 Ser233Phe S233F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 5 Y 0 N - - NM_001080502 Cys1240Leu C1240L not reviewed Insufficiently evaluated not reviewed unknown Array rs7316147 45 90 0.5 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_001080502 Val928Ala V928A not reviewed Insufficiently evaluated not reviewed unknown Array rs2287450 15 108 0.138889 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 1 N - - AK094231 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array rs7979451 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK128707 His96Tyr H96Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73119894 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF28 Leu210Met L210M not reviewed Insufficiently evaluated not reviewed unknown Array rs10879065 47 128 0.367188 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - C12ORF64 Asn256Ser N256S not reviewed Insufficiently evaluated not reviewed unknown Array rs1551122 5278 10756 0.490703 34 0 52 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DAO Pro260Thr P260T not reviewed Insufficiently evaluated not reviewed unknown Array rs11114083 31 128 0.242188 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001083900 Ser167Pro S167P not reviewed Insufficiently evaluated not reviewed unknown Array rs11057353 91 126 0.722222 45 0 73 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AL831921 Gly426Arg G426R not reviewed Insufficiently evaluated not reviewed unknown Array rs12424159 56 128 0.4375 34 0 41 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FGF9 Ser99Gly S99G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.833 - - 2 - 1 N - - NM_001007537 Val238Ala V238A not reviewed Insufficiently evaluated not reviewed unknown Array rs3864970 14 62 0.225806 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPATA13 Arg605Trp R605W not reviewed Insufficiently evaluated not reviewed unknown Array rs7330736 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC146965 Thr137Ala T137A not reviewed Insufficiently evaluated not reviewed unknown Array rs445909 49 126 0.388889 30 0 39 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - BC127912 Lys120Arg K120R not reviewed Insufficiently evaluated not reviewed unknown Array rs9546897 45 126 0.357143 30 0 34 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK054970 Ile46Val I46V not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AJ412041 Glu51Lys E51K not reviewed Insufficiently evaluated not reviewed unknown Array 42 106 0.396226 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AJ412041 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 43 104 0.413462 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AJ412041 Pro74Thr P74T not reviewed Insufficiently evaluated not reviewed unknown Array rs806325 87 128 0.679688 46 0 74 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TDRD3 Asn315Del N315Del not reviewed Insufficiently evaluated not reviewed unknown Array 17 128 0.132812 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AL833908 Arg76Cys R76C not reviewed Insufficiently evaluated not reviewed unknown Array rs9300756 67 128 0.523438 40 0 51 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DJ031140 Val95Ala V95A not reviewed Insufficiently evaluated not reviewed unknown Array rs12875067 76 122 0.622951 40 0 59 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC053597 Lys23Asn K23N not reviewed Insufficiently evaluated not reviewed unknown Array rs1057564 10 122 0.0819672 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR594591 Leu247Arg L247R not reviewed Insufficiently evaluated not reviewed unknown Array rs55676223 61 128 0.476562 36 0 48 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C14ORF169 Val363Ala V363A not reviewed Insufficiently evaluated not reviewed unknown Array rs3813563 4917 10040 0.489741 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF45 Lys195Glu K195E not reviewed Insufficiently evaluated not reviewed unknown Array rs3742809 27 128 0.210938 18 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINA13 Leu164Phe L164F not reviewed Insufficiently evaluated not reviewed unknown Array rs4905226 2173 10756 0.202027 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C14ORF49 Leu796Del L796Del not reviewed Insufficiently evaluated not reviewed unknown Array rs76499929 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AF469208 Ile47Phe I47F not reviewed Insufficiently evaluated not reviewed unknown Array 8 126 0.0634921 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IGHA2 Ile332Val I332V not reviewed Insufficiently evaluated not reviewed unknown Array 54 76 0.710526 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IGHA2 Tyr285Phe Y285F not reviewed Insufficiently evaluated not reviewed unknown Array rs11970 84 106 0.792453 31 0 58 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - IGHE Lys6Gln K6Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1950943 6910 10002 0.690862 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - RYR3 Glu4441Del E4441Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3217346 20 128 0.15625 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NUSAP1 Thr33Asp T33D not reviewed Insufficiently evaluated not reviewed unknown Array rs7178634 46 128 0.359375 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC016970 Tyr57His Y57H not reviewed Insufficiently evaluated not reviewed unknown Array rs4329867 50 128 0.390625 35 0 45 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SCAPER Glu325Gly E325G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - NM_024776 Arg1071Lys R1071K not reviewed Insufficiently evaluated not reviewed unknown Array rs12909704 2790 9926 0.28108 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK308609 Ala116Val A116V not reviewed Insufficiently evaluated not reviewed unknown Array rs56314252 23 60 0.383333 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC020234 Met165Val M165V not reviewed Insufficiently evaluated not reviewed unknown Array rs11633991 22 128 0.171875 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF7 Ser445Ile S445I not reviewed Insufficiently evaluated not reviewed unknown Array rs3803530 67 126 0.531746 40 0 55 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SYNM Ala265Val A265V not reviewed Insufficiently evaluated not reviewed unknown Array 16 6878 0.00232626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001040615 Ser472Thr S472T not reviewed Insufficiently evaluated not reviewed unknown Array rs2411837 3613 10756 0.335906 23 0 28 0 0 - - - - - - - - - - - - - - - - 0.45 - - -2 - 0 N - - LRRK1 Gly1938Glu G1938E not reviewed Insufficiently evaluated not reviewed unknown Array rs2959197 31 128 0.242188 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TELO2 Glu7Arg E7R not reviewed Insufficiently evaluated not reviewed unknown Array rs35400877 40 122 0.327869 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF598 Ala608Thr A608T not reviewed Insufficiently evaluated not reviewed unknown Array rs11248905 1211 9596 0.126198 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF598 Ser453Tyr S453Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11556528 1202 10110 0.118892 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_014711 Ser126Arg S126R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - SLC7A5P2 Ser65Gly S65G not reviewed Insufficiently evaluated not reviewed unknown Array rs42138 98 120 0.816667 51 0 84 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MT4 TyrTrp30CysArg YW30CR not reviewed Insufficiently evaluated not reviewed unknown Array rs666636 109 128 0.851562 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MT1IP Glu20Arg E20R not reviewed Insufficiently evaluated not reviewed unknown Array rs71380433 119 124 0.959677 47 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0174 MetPro238Del MP238Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3838875 1 128 0.0078125 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKD1L2 Leu2117Ile L2117I not reviewed Insufficiently evaluated not reviewed unknown Array rs8050204 1561 10136 0.154006 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PKD1L2 Ala2054Thr A2054T not reviewed Insufficiently evaluated not reviewed unknown Array rs16954717 1357 10138 0.133853 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKD1L2 Tyr2048Ser Y2048S not reviewed Insufficiently evaluated not reviewed unknown Array rs75417926 1221 10084 0.121083 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PKD1L2 Pro2045Leu P2045L not reviewed Insufficiently evaluated not reviewed unknown Array rs7206183 3253 10024 0.324521 35 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PKD1L2 Gln2035Arg Q2035R not reviewed Insufficiently evaluated not reviewed unknown Array rs16954722 1396 10006 0.139516 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PKD1L2 Asn236Shift N236Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55980345 49 126 0.388889 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX747795 Trp119Arg W119R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF85 Glu145Asp E145D not reviewed Insufficiently evaluated not reviewed unknown Array rs2879897 5852 10758 0.543967 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FAM38A Ile1780Val I1780V not reviewed Insufficiently evaluated not reviewed unknown Array rs1803382 22 128 0.171875 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FAM38A Pro1372Ser P1372S not reviewed Insufficiently evaluated not reviewed unknown Array rs35159887 17 124 0.137097 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001025459 Thr147Ile T147I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001025459 Phe34Leu F34L not reviewed Insufficiently evaluated not reviewed unknown Array rs4613098 53 126 0.420635 33 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MINK1 Val688Ala V688A not reviewed Insufficiently evaluated not reviewed unknown Array rs11556634 84 128 0.65625 43 0 68 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF287 Tyr585Cys Y585C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.277 - - 6 Y 1 N - - KCNJ12 Arg118His R118H not reviewed Insufficiently evaluated not reviewed unknown Array rs1657740 49 100 0.49 38 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NM_173624 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs241778 754 10666 0.0706919 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SARM1 Ser265Arg S265R not reviewed Insufficiently evaluated not reviewed unknown Array rs70956802 108 108 1 44 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP17-1 GlyCysGlyGlySerGly42Asp GCGGSG42D not reviewed Insufficiently evaluated not reviewed unknown Array 18 110 0.163636 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRCD Gln153Pro Q153P not reviewed Insufficiently evaluated not reviewed unknown Array rs895157 24 128 0.1875 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRCD Trp238Arg W238R not reviewed Insufficiently evaluated not reviewed unknown Array rs5742903 27 126 0.214286 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C17ORF52 Ala45Gly A45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC036810 Cys254Gly C254G not reviewed Insufficiently evaluated not reviewed unknown Array 12 128 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DNAH17 Val436Ile V436I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745194 192 10756 0.0178505 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK057217 Cys385Phe C385F not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BAHCC1 Gly1184Arg G1184R not reviewed Insufficiently evaluated not reviewed unknown Array rs61745233 747 10394 0.0718684 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SETBP1 Val177Leu V177L not reviewed Insufficiently evaluated not reviewed unknown Array rs11082414 20 128 0.15625 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LOXHD1 Glu1345Gly E1345G not reviewed Insufficiently evaluated not reviewed unknown Array rs12606417 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 0 N - - LOXHD1 Val85Ile V85I not reviewed Insufficiently evaluated not reviewed unknown Array rs10163657 8 128 0.0625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ALPK2 GluAspThrSerThr1006Del EDTST1006Del not reviewed Insufficiently evaluated not reviewed unknown Array rs67925233 58 128 0.453125 36 0 36 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SERPINBP1 Thr147Met T147M not reviewed Insufficiently evaluated not reviewed unknown Array rs17071550 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR749350 Phe273Tyr F273Y not reviewed Insufficiently evaluated not reviewed unknown Array rs8093952 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AK098244 Ile788Leu I788L not reviewed Insufficiently evaluated not reviewed unknown Array rs10411250 59 126 0.468254 33 0 45 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLIN4 Ala883Thr A883T not reviewed Insufficiently evaluated not reviewed unknown Array rs71263980 2041 9934 0.205456 38 0 38 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BC117296 Arg73Ser R73S not reviewed Insufficiently evaluated not reviewed unknown Array rs11878617 35 128 0.273438 24 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC032415 Cys24Gly C24G not reviewed Insufficiently evaluated not reviewed unknown Array rs1017820 23 120 0.191667 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C19ORF45 Asp242Gly D242G not reviewed Insufficiently evaluated not reviewed unknown Array rs484870 53 126 0.420635 33 0 44 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C19ORF45 Tyr382Asn Y382N not reviewed Insufficiently evaluated not reviewed unknown Array rs3826736 57 126 0.452381 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C19ORF45 Tyr420Asn Y420N not reviewed Insufficiently evaluated not reviewed unknown Array rs475923 44 126 0.349206 27 0 34 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C19ORF45 Pro483Ser P483S not reviewed Insufficiently evaluated not reviewed unknown Array rs1133378 34 128 0.265625 22 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C19ORF45 Leu486Pro L486P not reviewed Insufficiently evaluated not reviewed unknown Array rs608144 51 128 0.398438 32 0 41 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC127752 Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array rs73009507 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC125186 Asn266Ser N266S not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - BC125186 Val329Ala V329A not reviewed Insufficiently evaluated not reviewed unknown Array rs8102258 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.306 - - 2 - 0 N - - ZNF443 LeuGly481ArgArg LG481RR not reviewed Insufficiently evaluated not reviewed unknown Array rs74181783 53 128 0.414062 33 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF91 Leu1164Ala L1164A not reviewed Insufficiently evaluated not reviewed unknown Array rs428549 45 128 0.351562 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF681 Lys364Arg K364R not reviewed Insufficiently evaluated not reviewed unknown Array 7 96 0.0729167 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CR622909 Phe9Leu F9L not reviewed Insufficiently evaluated not reviewed unknown Array rs574004 41 128 0.320312 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF607 Ser2Val S2V not reviewed Insufficiently evaluated not reviewed unknown Array rs12461753 15 128 0.117188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FCGBP GlyMet1616ValVal GM1616VV not reviewed Insufficiently evaluated not reviewed unknown Array rs71334845 15 108 0.138889 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LTBP4 Thr1140Met T1140M not reviewed Insufficiently evaluated not reviewed unknown Array rs10880 3584 9816 0.365118 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PSG3 Leu30Pro L30P not reviewed Insufficiently evaluated not reviewed unknown Array rs34721205 45 84 0.535714 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PSG4 GlnArg11HisLeu QR11HL not reviewed Insufficiently evaluated not reviewed unknown Array rs11883277 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD177 Gly430Arg G430R not reviewed Insufficiently evaluated not reviewed unknown Array 746 10078 0.0740226 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC132841 Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array rs4803967 17 126 0.134921 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF541 Gly374Arg G374R not reviewed Insufficiently evaluated not reviewed unknown Array rs12972658 20 128 0.15625 16 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC114 Pro261Leu P261L not reviewed Insufficiently evaluated not reviewed unknown Array rs35461177 17 128 0.132812 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC114 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array rs35361179 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACPT Ala325Asn A325N not reviewed Insufficiently evaluated not reviewed unknown Array rs55716643 35 128 0.273438 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF611 Pro252Ile P252I not reviewed Insufficiently evaluated not reviewed unknown Array rs34846371 15 50 0.3 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZSCAN5B Val160Ile V160I not reviewed Insufficiently evaluated not reviewed unknown Array rs41429651 64 128 0.5 40 0 57 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ALLC Glu303Del E303Del not reviewed Insufficiently evaluated not reviewed unknown Array rs66473381 1 128 0.0078125 51 0 62 2 2 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - The activity of uric acid degrading enzymes was lost during vertebrate evolution. Mammals lack functional allantoicase. The human allantoicase gene is transcribed, but the mRNA lacks a continuous open reading frame. Mutations are therefore of no consequence. AK124439 Gly66Arg G66R not reviewed Insufficiently evaluated not reviewed unknown Array rs4665385 21 128 0.164062 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001101330 Glu235Asp E235D not reviewed Insufficiently evaluated not reviewed unknown Array 210 10022 0.0209539 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NR_003131 Met159Val M159V not reviewed Insufficiently evaluated not reviewed unknown Array rs262496 34 124 0.274194 24 0 30 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATOH8 Val114Met V114M not reviewed Insufficiently evaluated not reviewed unknown Array rs736991 44 128 0.34375 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANAPC1 Ser133Pro S133P not reviewed Insufficiently evaluated not reviewed unknown Array rs1522044 51 60 0.85 27 0 49 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TEKT4 Thr133Met T133M not reviewed Insufficiently evaluated not reviewed unknown Array 23 96 0.239583 21 0 21 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 1 N - - TEKT4 Thr313Met T313M not reviewed Insufficiently evaluated not reviewed unknown Array 27 76 0.355263 24 0 24 0 0 - - - - - - - - - - - - - - - - 0.752 - - 2 - 0 N - - TEKT4 Ile404Val I404V not reviewed Insufficiently evaluated not reviewed unknown Array 9 78 0.115385 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.707 - - -4 - 0 N - - AK125994 Pro83Gln P83Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM87B Met167Del M167Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71385858 27 114 0.236842 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AY726562 His23Arg H23R not reviewed Insufficiently evaluated not reviewed unknown Array rs1561448 118 126 0.936508 45 0 90 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NR_002826 Glu553Lys E553K not reviewed Insufficiently evaluated not reviewed unknown Array rs71428578 36 122 0.295082 20 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK308371 Leu168Met L168M not reviewed Insufficiently evaluated not reviewed unknown Array rs2277877 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK123346 Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array rs9287520 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THSD7B Lys1471Arg K1471R not reviewed Insufficiently evaluated not reviewed unknown Array rs10206850 5873 9666 0.607594 46 0 61 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NM_016653 Tyr773His Y773H not reviewed Insufficiently evaluated not reviewed unknown Array rs35608243 916 9742 0.0940259 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - TTN Ser19139Leu S19139L not reviewed Insufficiently evaluated not reviewed unknown Array rs13021201 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NM_207482 Tyr281Asn Y281N not reviewed Insufficiently evaluated not reviewed unknown Array rs16827154 57 128 0.445312 35 0 45 0 0 - - - - - - - - - - - - - - - - 0.014 - - 5 Y 0 N - - NM_207482 Pro1227Thr P1227T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - CR603438 Gly21Val G21V not reviewed Insufficiently evaluated not reviewed unknown Array 16 128 0.125 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TUBA4B Arg219Lys R219K not reviewed Insufficiently evaluated not reviewed unknown Array rs55970452 73 128 0.570312 36 0 53 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - ARMC9 Ile180Glu I180E not reviewed Insufficiently evaluated not reviewed unknown Array rs1626450 128 128 1 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - INPP5D His1010Tyr H1010Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9247 31 126 0.246032 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - USP40 Val597Ala V597A not reviewed Insufficiently evaluated not reviewed unknown Array rs838543 26 128 0.203125 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIRPA AspLeu95GluSer DL95ES not reviewed Insufficiently evaluated not reviewed unknown Array 35 126 0.277778 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SIRPA Asn100Glu N100E not reviewed Insufficiently evaluated not reviewed unknown Array rs17855613 42 128 0.328125 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIRPA Asp131Del D131Del not reviewed Insufficiently evaluated not reviewed unknown Array 55 128 0.429688 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SIRPA Val132Thr V132T not reviewed Insufficiently evaluated not reviewed unknown Array 55 128 0.429688 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX746654 Gly38Arg G38R not reviewed Insufficiently evaluated not reviewed unknown Array rs910971 35 128 0.273438 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DQ575654 Gln28Arg Q28R not reviewed Insufficiently evaluated not reviewed unknown Array rs2423097 4 120 0.0333333 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF186 Gly167Trp G167W not reviewed Insufficiently evaluated not reviewed unknown Array rs2424943 10 128 0.078125 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF132 Gln836Arg Q836R not reviewed Insufficiently evaluated not reviewed unknown Array rs1744760 42 122 0.344262 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF132 Thr389Asn T389N not reviewed Insufficiently evaluated not reviewed unknown Array rs1780680 49 126 0.388889 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C20ORF132 Lys269Arg K269R not reviewed Insufficiently evaluated not reviewed unknown Array rs1615246 55 126 0.436508 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK123872 Pro82Ser P82S not reviewed Insufficiently evaluated not reviewed unknown Array rs58202748 22 128 0.171875 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR593014 Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array rs4812473 89 128 0.695312 50 0 78 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - GCNT7 Asp230Glu D230E not reviewed Insufficiently evaluated not reviewed unknown Array rs34552628 30 128 0.234375 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ABCC13 Thr190Ile T190I not reviewed Insufficiently evaluated not reviewed unknown Array rs17274058 7 128 0.0546875 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 1 N - - TIAM1 Gly247Met G247M not reviewed Insufficiently evaluated not reviewed unknown Array rs2070417 20 128 0.15625 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C21ORF128 Val98Phe V98F not reviewed Insufficiently evaluated not reviewed unknown Array rs220111 3325 10758 0.309072 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C21ORF105 Ile27Leu I27L not reviewed Insufficiently evaluated not reviewed unknown Array rs62220807 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP12-2 Ser29Arg S29R not reviewed Insufficiently evaluated not reviewed unknown Array rs7275281 68 120 0.566667 41 0 41 0 0 - - - - - - - - - - - - - - - - 0.793 - - 3 - 0 N - - KRTAP12-2 Ala16Met A16M not reviewed Insufficiently evaluated not reviewed unknown Array rs35163632 86 124 0.693548 48 0 48 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK311676 Thr48Ala T48A not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AJ318021 Thr212Ala T212A not reviewed Insufficiently evaluated not reviewed unknown Array rs28477498 6 114 0.0526316 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CU013058 Thr37Pro T37P not reviewed Insufficiently evaluated not reviewed unknown Array rs9609261 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOL4 Met158Val M158V not reviewed Insufficiently evaluated not reviewed unknown Array rs132700 3372 10742 0.313908 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APOBEC3H Asn15Del N15Del not reviewed Insufficiently evaluated not reviewed unknown Array rs139292 42 128 0.328125 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CYP2D7P1 Leu141Pro L141P not reviewed Insufficiently evaluated not reviewed unknown Array rs1058167 50 126 0.396825 31 0 44 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CYP2D7P1 Leu123Ser L123S not reviewed Insufficiently evaluated not reviewed unknown Array rs5758599 50 128 0.390625 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001012986 Gly12Glu G12E not reviewed Insufficiently evaluated not reviewed unknown Array rs138593 5733 10014 0.572499 34 0 49 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC036832 Arg16Cys R16C not reviewed Insufficiently evaluated not reviewed unknown Array rs3747243 998 3234 0.308596 31 0 37 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FGD5 His359Tyr H359Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM198A Gly512Ser G512S not reviewed Insufficiently evaluated not reviewed unknown Array rs3732858 19 128 0.148438 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC101286 Cys53Tyr C53Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC101286 Met15Val M15V not reviewed Insufficiently evaluated not reviewed unknown Array rs73085633 36 126 0.285714 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SETD2 Pro1459Leu P1459L not reviewed Insufficiently evaluated not reviewed unknown Array rs4082155 61 128 0.476562 37 0 47 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DOCK3 Met1655Leu M1655L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RAD54L2 Asn900Ser N900S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH1 Gly3866Asp G3866D not reviewed Insufficiently evaluated not reviewed unknown Array rs12163565 14 128 0.109375 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC66 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7637449 29 128 0.226562 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KBTBD8 Cys394Arg C394R not reviewed Insufficiently evaluated not reviewed unknown Array rs13096789 15 128 0.117188 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM86DP Arg214Gln R214Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11537690 23 128 0.179688 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Cys302His C302H not reviewed Insufficiently evaluated not reviewed unknown Array rs4080849 63 128 0.492188 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Cys183Leu C183L not reviewed Insufficiently evaluated not reviewed unknown Array 15 54 0.277778 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR5AC2 Stop310Gln X310Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 128 0.15625 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001093779 Gln97Leu Q97L not reviewed Insufficiently evaluated not reviewed unknown Array rs35917542 16 128 0.125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_001093779 Ile5Met I5M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BBX Glu399Del E399Del not reviewed Insufficiently evaluated not reviewed unknown Array rs34531902 11 128 0.0859375 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C3ORF66 Ile117Asn I117N not reviewed Insufficiently evaluated not reviewed unknown Array rs1849903 30 128 0.234375 24 0 26 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TOPBP1 Asn955Ser N955S not reviewed Insufficiently evaluated not reviewed unknown Array rs10935070 27 128 0.210938 14 0 16 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - AK057553 Arg31Cys R31C not reviewed Insufficiently evaluated not reviewed unknown Array rs7615357 20 72 0.277778 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AK057553 Cys32Tyr C32Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7635172 18 70 0.257143 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK057553 Gln175Arg Q175R not reviewed Insufficiently evaluated not reviewed unknown Array rs6583272 8 84 0.0952381 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX747178 Ser154Cys S154C not reviewed Insufficiently evaluated not reviewed unknown Array rs77049343 23 128 0.179688 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX747178 Leu151His L151H not reviewed Insufficiently evaluated not reviewed unknown Array rs13115903 38 128 0.296875 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PSAPL1 Ala40Ser A40S not reviewed Insufficiently evaluated not reviewed unknown Array rs11548325 26 128 0.203125 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KLB Gly908Arg G908R not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYT16 Thr97Met T97M not reviewed Insufficiently evaluated not reviewed unknown Array rs3819257 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMCN Val33Del V33Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TET2 Gln1524Pro Q1524P not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.648 - - 4 Y 1 N - - SYNPO2 Arg147Del R147Del not reviewed Insufficiently evaluated not reviewed unknown Array rs70944826 35 128 0.273438 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LRBA Ala2692Thr A2692T not reviewed Insufficiently evaluated not reviewed unknown Array rs3749574 24 128 0.1875 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR600059 Met3Lys M3K not reviewed Insufficiently evaluated not reviewed unknown Array rs3775588 55 128 0.429688 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MAP3K1 Thr949Del T949Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10600104 2 120 0.0166667 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001080479 Arg585Lys R585K not reviewed Insufficiently evaluated not reviewed unknown Array rs2973566 2245 9712 0.231157 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 1 N - - NM_001080479 Arg621Gln R621Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 9544 0.00534367 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - JMY Met88Leu M88L not reviewed Insufficiently evaluated not reviewed unknown Array rs13182512 72 126 0.571429 38 0 54 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BC126296 Cys83Arg C83R not reviewed Insufficiently evaluated not reviewed unknown Array rs254643 88 102 0.862745 40 0 75 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AK309191 Glu78Gly E78G not reviewed Insufficiently evaluated not reviewed unknown Array rs2070724 4013 10758 0.373025 26 0 35 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK309191 Ser129Pro S129P not reviewed Insufficiently evaluated not reviewed unknown Array rs9282761 4100 10756 0.381183 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NPY6R Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array rs2228647 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PCDHB16 Glu526Ala E526A not reviewed Insufficiently evaluated not reviewed unknown Array rs17844652 47 8212 0.00572333 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BX648961 Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array rs17075346 15 126 0.119048 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C5ORF25 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array rs72645798 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001080544 Thr194Ala T194A not reviewed Insufficiently evaluated not reviewed unknown Array rs11953029 50 128 0.390625 36 0 42 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX747985 His8Asp H8D not reviewed Insufficiently evaluated not reviewed unknown Array rs28517507 22 112 0.196429 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX747985 Ile30Val I30V not reviewed Insufficiently evaluated not reviewed unknown Array rs34136985 43 94 0.457447 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AX747985 Cys41Arg C41R not reviewed Insufficiently evaluated not reviewed unknown Array rs28385340 22 78 0.282051 12 0 21 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AX747985 Pro42Leu P42L not reviewed Insufficiently evaluated not reviewed unknown Array rs28757779 24 80 0.3 13 0 23 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC040901 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array rs416974 69 126 0.547619 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PSMG4 Leu112Ser L112S not reviewed Insufficiently evaluated not reviewed unknown Array rs4959788 75 122 0.614754 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DQ577059 Gly372Arg G372R not reviewed Insufficiently evaluated not reviewed unknown Array rs6597293 51 128 0.398438 32 0 42 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK126168 Thr81Lys T81K not reviewed Insufficiently evaluated not reviewed unknown Array rs6921113 53 128 0.414062 34 0 45 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR2U1P Phe280Cys F280C not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2U1P Arg261Met R261M not reviewed Insufficiently evaluated not reviewed unknown Array rs3117328 48 126 0.380952 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZFP57 Arg167Cys R167C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730330 1 128 0.0078125 2 0 2 0 0 ! Y - - 2 Y - - - - - - - - - - 1.0 - - 8 Y 2 N - - Probably benign. HLA-A Ile121Arg I121R not reviewed Insufficiently evaluated not reviewed unknown Array rs71533811 373 7282 0.0512222 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HLA-A Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array rs66488547 42 94 0.446809 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - NCRNA00243 Ile123Met I123M not reviewed Insufficiently evaluated not reviewed unknown Array rs2894046 47 128 0.367188 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NCRNA00243 Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array rs2394412 47 128 0.367188 31 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DPCR1 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2240804 29 128 0.226562 15 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001098534 Ser619Pro S619P not reviewed Insufficiently evaluated not reviewed unknown Array rs1052486 20 0 25 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VARS Pro51Ser P51S not reviewed Insufficiently evaluated not reviewed unknown Array rs2607015 42 126 0.333333 28 0 28 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HLA-DQB2 Ile230Val I230V not reviewed Insufficiently evaluated not reviewed unknown Array rs35354072 89 128 0.695312 45 0 46 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-DQB2 Ser228Gly S228G not reviewed Insufficiently evaluated not reviewed unknown Array rs9276572 84 128 0.65625 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-DQB2 Leu174Phe L174F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-DQB2 Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1049110 83 126 0.65873 45 0 69 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DPB1 LeuPhe37ValTyr LF37VY not reviewed Insufficiently evaluated not reviewed unknown Array rs1126504 41 126 0.325397 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DPB1 Gly40Leu G40L not reviewed Insufficiently evaluated not reviewed unknown Array rs1126511 32 128 0.25 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LYPLA2P1 Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs211450 57 128 0.445312 38 0 50 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LYPLA2P1 Arg148Trp R148W not reviewed Insufficiently evaluated not reviewed unknown Array rs9278021 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LYPLA2P1 Asp30Glu D30E not reviewed Insufficiently evaluated not reviewed unknown Array rs211449 60 128 0.46875 39 0 52 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TREML2 Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 118 0.118644 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TREML2 Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736679 15 122 0.122951 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCC10 Val1116Met V1116M not reviewed Insufficiently evaluated not reviewed unknown Array rs62402415 27 10638 0.00253807 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - C6ORF142 Glu444Ala E444A not reviewed Insufficiently evaluated not reviewed unknown Array rs2754779 46 128 0.359375 26 0 36 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRIM2 Arg349Cys R349C not reviewed Insufficiently evaluated not reviewed unknown Array rs9885751 4157 10010 0.415285 48 0 48 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - PRIM2 Gly434Asp G434D not reviewed Insufficiently evaluated not reviewed unknown Array rs4307164 42 84 0.5 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PRIM2 Ser464Pro S464P not reviewed Insufficiently evaluated not reviewed unknown Array rs4294008 64 128 0.5 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GABRR1 His21Arg H21R not reviewed Insufficiently evaluated not reviewed unknown Array rs1186902 23 128 0.179688 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MICAL1 Ala758Lys A758K not reviewed Insufficiently evaluated not reviewed unknown Array rs35260632 38 128 0.296875 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK124171 Asp259Val D259V not reviewed Insufficiently evaluated not reviewed unknown Array rs12175588 29 128 0.226562 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LAMA4 Ala283Asp A283D not reviewed Insufficiently evaluated not reviewed unknown Array rs71543223 126 126 1 52 0 52 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LAMA2 Thr2634Ala T2634A not reviewed Insufficiently evaluated not reviewed unknown Array rs2244008 862 10758 0.0801264 15 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - SNORA33 Thr130Ile T130I not reviewed Insufficiently evaluated not reviewed unknown Array rs3778174 45 128 0.351562 30 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001099267 Lys74Ala K74A not reviewed Insufficiently evaluated not reviewed unknown Array rs997389 27 128 0.210938 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK125766 Leu144Met L144M not reviewed Insufficiently evaluated not reviewed unknown Array rs4720922 24 128 0.1875 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK125766 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array rs79496824 17 128 0.132812 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK125766 Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array rs56130225 12 128 0.09375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DNAH11 Glu34Leu E34L not reviewed Insufficiently evaluated not reviewed unknown Array rs2285943 42 114 0.368421 24 0 24 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 1 N - - DNAH11 Ala3474Thr A3474T not reviewed Insufficiently evaluated not reviewed unknown Array rs2214326 3497 10004 0.34956 34 0 46 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 1 N - - AK308991 Glu30Lys E30K not reviewed Insufficiently evaluated not reviewed unknown Array rs6966841 1471 3208 0.458541 39 0 59 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC017861 Thr95Met T95M not reviewed Insufficiently evaluated not reviewed unknown Array rs1053763 144 8672 0.0166052 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRGV5 Val134Leu V134L not reviewed Insufficiently evaluated not reviewed unknown Array 9 112 0.0803571 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCA13 Pro451Leu P451L not reviewed Insufficiently evaluated not reviewed unknown Array rs1880738 48 128 0.375 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCA13 Val886Leu V886L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Ala2123Glu A2123E not reviewed Insufficiently evaluated not reviewed unknown Array rs1880736 100 128 0.78125 47 0 79 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABCA13 Arg2429Lys R2429K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCA13 Gln4247Arg Q4247R not reviewed Insufficiently evaluated not reviewed unknown Array rs4917153 23 128 0.179688 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TYW1B Met137Thr M137T not reviewed Insufficiently evaluated not reviewed unknown Array rs35367658 44 90 0.488889 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - WBSCR16 Arg208His R208H not reviewed Insufficiently evaluated not reviewed unknown Array rs4728602 72 72 1 27 0 54 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ERVWE1 Ser307Asn S307N not reviewed Insufficiently evaluated not reviewed unknown Array rs10266695 25 118 0.211864 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PILRB Leu212Del L212Del not reviewed Insufficiently evaluated not reviewed unknown Array rs34356024 1 126 0.00793651 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AGFG2 Trp211Arg W211R not reviewed Insufficiently evaluated not reviewed unknown Array rs17855473 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC3A Met6Ala M6A not reviewed Insufficiently evaluated not reviewed unknown Array rs73163757 50 120 0.416667 43 0 43 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC3A Ile10Ser I10S not reviewed Insufficiently evaluated not reviewed unknown Array rs78584246 2089 4586 0.455517 44 0 44 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC3A Ile26Thr I26T not reviewed Insufficiently evaluated not reviewed unknown Array rs73714238 1632 4586 0.355866 36 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC3A Thr33Ala T33A not reviewed Insufficiently evaluated not reviewed unknown Array 374 4586 0.0815526 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC3A Thr75Lys T75K not reviewed Insufficiently evaluated not reviewed unknown Array rs73398734 2222 4586 0.484518 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC3A Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array rs73714247 62 124 0.5 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC3A Val82Phe V82F not reviewed Insufficiently evaluated not reviewed unknown Array rs73398735 2149 4586 0.4686 50 0 50 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC3A Thr98Ile T98I not reviewed Insufficiently evaluated not reviewed unknown Array rs78273697 58 128 0.453125 47 0 47 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC3A Gly182Ala G182A not reviewed Insufficiently evaluated not reviewed unknown Array rs62483698 2374 4586 0.517662 46 0 48 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC3A Ser329Asn S329N not reviewed Insufficiently evaluated not reviewed unknown Array rs73163758 1644 4586 0.358482 45 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC3A Leu334Thr L334T not reviewed Insufficiently evaluated not reviewed unknown Array rs73163760 58 124 0.467742 44 0 44 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC3A Thr370Ala T370A not reviewed Insufficiently evaluated not reviewed unknown Array rs75471530 808 4586 0.176188 33 0 33 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC3A Ala573Val A573V not reviewed Insufficiently evaluated not reviewed unknown Array rs6960868 33 78 0.423077 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC3A His752Tyr H752Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10258821 2332 4586 0.508504 49 0 53 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC12 Thr2Arg T2R not reviewed Insufficiently evaluated not reviewed unknown Array rs11766125 1584 3234 0.489796 37 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC12 Pro137Ser P137S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001085391 Tyr212His Y212H not reviewed Insufficiently evaluated not reviewed unknown Array rs6961822 63 122 0.516393 35 0 50 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001085391 Gly171Ser G171S not reviewed Insufficiently evaluated not reviewed unknown Array rs6962156 67 126 0.531746 36 0 53 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABP1 Thr592Ser T592S not reviewed Insufficiently evaluated not reviewed unknown Array rs71516432 128 128 1 53 0 53 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - WDR60 Lys105Del K105Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3833679 17 128 0.132812 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DLC1 GlnAsn254HisAsp QN254HD not reviewed Insufficiently evaluated not reviewed unknown Array rs11203494 104 128 0.8125 38 0 38 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM160B2 Thr314Ala T314A not reviewed Insufficiently evaluated not reviewed unknown Array rs35497596 49 124 0.395161 28 0 36 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR611604 Thr47Ile T47I not reviewed Insufficiently evaluated not reviewed unknown Array rs9694936 94 102 0.921569 41 0 77 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR611604 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7832307 56 64 0.875 25 0 45 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AL136588 Gly59Arg G59R not reviewed Insufficiently evaluated not reviewed unknown Array rs28715922 14 128 0.109375 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC089453 Ala58Glu A58E not reviewed Insufficiently evaluated not reviewed unknown Array rs13267247 37 128 0.289062 25 0 32 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ODF1 AsnProCys219Del NPC219Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_002304 Gly176Glu G176E not reviewed Insufficiently evaluated not reviewed unknown Array rs6998061 44 128 0.34375 25 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NR_002304 Glu238Gln E238Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7002225 57 122 0.467213 33 0 46 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_207414 Ser736Asn S736N not reviewed Insufficiently evaluated not reviewed unknown Array rs72685432 1881 10404 0.180796 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_207414 Tyr10His Y10H not reviewed Insufficiently evaluated not reviewed unknown Array rs2748421 4100 10412 0.393776 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_207414 Arg8Lys R8K not reviewed Insufficiently evaluated not reviewed unknown Array rs2613648 4096 10430 0.392713 26 0 32 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - PYCRL Val105Met V105M not reviewed Insufficiently evaluated not reviewed unknown Array rs2242089 32 128 0.25 23 0 26 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 0 N - - PYCRL Arg57Gln R57Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11549789 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - EPPK1 Gln2050Pro Q2050P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPPK1 Asp1686Asn D1686N not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANXA2 Ser305Phe S305F not reviewed Insufficiently evaluated not reviewed unknown Array rs36079164 46 128 0.359375 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ALAD Lys68Asn K68N not reviewed Insufficiently evaluated not reviewed unknown Array rs1800435 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 1 N - - AK131516 Ala39Pro A39P not reviewed Insufficiently evaluated not reviewed unknown Array rs10818907 36 128 0.28125 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPSM1 Ser368Leu S368L not reviewed Insufficiently evaluated not reviewed unknown Array rs60980157 28 128 0.21875 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CR593643 Asp275Asn D275N not reviewed Insufficiently evaluated not reviewed unknown Array rs2361968 6 92 0.0652174 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CR593643 Arg287Trp R287W not reviewed Insufficiently evaluated not reviewed unknown Array 5 102 0.0490196 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - AF391805 Thr24Ala T24A not reviewed Insufficiently evaluated not reviewed unknown Array rs28357682 43 0 86 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTPBP6 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array rs34297062 628 10048 0.0625 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC093994 Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array rs4274002 80 101 0.792079 48 0 83 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SMEK3P Val692Ala V692A not reviewed Insufficiently evaluated not reviewed unknown Array rs12842916 39 92 0.423913 24 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MAGEB16 Met248Glu M248E not reviewed Insufficiently evaluated not reviewed unknown Array rs4829390 65 92 0.706522 41 0 41 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_207422 Ile8Thr I8T not reviewed Insufficiently evaluated not reviewed unknown Array rs7884806 5047 8691 0.580716 25 0 48 0 0 - - - - - - - - - - - - - - - - 0.14 - - 3 - 0 N - - NM_001127438 Asn20Tyr N20Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TEX13A Ser343Pro S343P not reviewed Insufficiently evaluated not reviewed unknown Array 6 8431 0.000711659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NKAP Ser202Del S202Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10577974 10 92 0.108696 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF275 Glu24Gln E24Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1467881 69 92 0.75 41 0 71 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_001039768 Pro14Ala P14A not reviewed Insufficiently evaluated not reviewed unknown Array rs6643650 88 88 1 49 0 98 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK307233 Ser42Leu S42L not reviewed Insufficiently evaluated not reviewed unknown Array rs915942 13 92 0.141304 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RPL10 Leu119Ser L119S not reviewed Insufficiently evaluated not reviewed unknown Array rs2070821 17 92 0.184783 14 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CLSTN1 Ser145Shift S145Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FCN3 Leu117Shift L117Shift pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs28357092 3 128 0.0234375 3 0 3 2 2 2 - 0 - 0 - 0 - 3 - 1 - - - - - - - - 4 Y 2 N 1 0 Speculated to cause immunodeficiency in a patient with serious, repeated infections. A large set of patients was examined (1282) and this variant is not extremely rare (1.1% allele frequency), and so this single observation had no statistical significance. Additionally, if this phenotype is relatively rare (1% or less), then a strong disease effect in homozygotes should have resulted in many more homozygotes in the patient cohort. The lack of this observation casts significant doubt on any pathogenic hypothesis. FLG Thr3579Gly T3579G not reviewed Insufficiently evaluated not reviewed unknown Array rs3126075 2 56 0.0357143 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - STX6 Leu123Shift L123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2W3 Ala300Shift A300Shift not reviewed Insufficiently evaluated not reviewed unknown Array 15 128 0.117188 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTCHD3 Ser309Shift S309Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs112067123 2 128 0.015625 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR13A1 Tyr269Shift Y269Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35302355 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ANK3 Ser4333Stop S4333X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDH23 Arg1434Gln R1434Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56181447 369 10368 0.0355903 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CDH23 Val1672Ile V1672I not reviewed Insufficiently evaluated not reviewed unknown Array rs17712523 1491 10698 0.139372 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - CDH23 Arg1801Gln R1801Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3802711 1329 10022 0.132608 14 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - AVPI1 Leu95Shift L95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MUC6 Pro1571Shift P1571Shift not reviewed Insufficiently evaluated not reviewed unknown Array 28 54 0.518519 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC6 Pro1569Shift P1569Shift not reviewed Insufficiently evaluated not reviewed unknown Array 28 56 0.5 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52B4 Leu41Shift L41Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11310407 34 126 0.269841 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR51F1 Arg92Shift R92Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34672924 42 128 0.328125 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52A1 Ser269Shift S269Shift not reviewed Insufficiently evaluated not reviewed unknown Array 27 128 0.210938 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52N1 Asn82Shift N82Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2D3 Leu121Shift L121Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59264610 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR5M1 Cys143Shift C143Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71931749 13 128 0.101562 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MMP12 Leu211Shift L211Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35342965 116 116 1 47 0 47 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AB231705 Cys190Stop C190X not reviewed Insufficiently evaluated not reviewed unknown Array rs12270679 14 126 0.111111 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SLC37A4 Asn197Ile N197I not reviewed Insufficiently evaluated not reviewed unknown Array rs34203644 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CELA1 Leu210Shift L210Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60311818 20 128 0.15625 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRRIQ1 Asn369Shift N369Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CSNK1A1L Gln231Shift Q231Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA0564 Asp83Shift D83Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C14ORF23 Thr117Shift T117Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM71D Thr197Shift T197Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56352800 1 128 0.0078125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Ser57Ala S57A not reviewed Insufficiently evaluated not reviewed unknown Array rs1399078 18 128 0.140625 13 0 14 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 2 N - - STRC Gln84Arg Q84R not reviewed Insufficiently evaluated not reviewed unknown Array rs2597067 70 70 1 22 0 44 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - AK311524 Trp181Shift W181Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT24 Asn222Shift N222Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11309872 33 116 0.284483 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AMZ2 Arg313Shift R313Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA10 Gln1506Shift Q1506Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3842375 13 126 0.103175 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA10 Ser444Shift S444Shift not reviewed Insufficiently evaluated not reviewed unknown Array 16 128 0.125 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC11 Tyr457Stop Y457X not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LDLR Gly75Asp G75D not reviewed Insufficiently evaluated not reviewed unknown Array rs3826810 8 128 0.0625 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - TSPAN16 Ser233Shift S233Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSH2D Ser223Shift S223Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5827322 2 124 0.016129 49 0 49 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs56388212 19 126 0.150794 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs60875266 57 128 0.445312 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - AK054965 Phe214Shift F214Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3838908 22 128 0.171875 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK054965 Lys209Stop K209X not reviewed Insufficiently evaluated not reviewed unknown Array rs3794983 22 128 0.171875 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - BC034929 Val109Shift V109Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58682925 36 128 0.28125 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HK2 Asp532Shift D532Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 114 0.0438596 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COBLL1 Asn733Shift N733Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Ala32174Pro A32174P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Val25147Gly V25147G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CR603438 Gly262Shift G262Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35940796 61 120 0.508333 33 0 51 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC132948 Arg44Stop R44X not reviewed Insufficiently evaluated not reviewed unknown Array rs59626274 292 3234 0.0902907 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - DEFB126 Gln55Shift Q55Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11467497 2 128 0.015625 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CPNE1 Ala402Shift A402Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CECR5 Ala105Shift A105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC065749 Thr53Shift T53Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59698086 30 128 0.234375 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIOBP Gln398Del Q398Del not reviewed Insufficiently evaluated not reviewed unknown Array rs55745992 37 120 0.308333 25 0 25 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - TRIOBP Ser442Del S442Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 72 0.0416667 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - XPC Ala499Val A499V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228000 1588 7820 0.203069 17 0 19 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - XPC Arg492His R492H not reviewed Insufficiently evaluated not reviewed unknown Array rs2227999 363 7820 0.0464194 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CCR5 Ser185Shift S185Shift protective Low clinical importance, protective recessive Array rs333 6 126 0.047619 13 0 14 3 2 3 Y 1 Y 4 - - - 4 Y 4 - - - - - - - - 4 Y 2 N 0 2 Also known as CCR5-delta32, this variant is associated with resistance to many strains of HIV (but not all strains, only strains that use target the CCR5 protein). Heterozygotes are reported to have slower HIV progression, and homozygotes are very resistant to being infected by these strains. ZNF717 Lys672Shift K672Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF717 Phe376Shift F376Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67579270 27 126 0.214286 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF148 Stop795Shift X795Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35950048 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IGSF10 Leu2452Shift L2452Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IGSF10 Ser2000Shift S2000Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VPS8 Cys586Shift C586Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001011538 Gln47Shift Q47Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RASGRF2 Thr801Shift T801Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746964 Gly175Shift G175Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72046778 3 88 0.0340909 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDHB9 Ile381Shift I381Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57843788 72 128 0.5625 31 0 62 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-H Arg141Val R141V not reviewed Insufficiently evaluated not reviewed unknown Array rs2523801 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - PSORS1C1 His40Shift H40Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs9278990 19 128 0.148438 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DQB1 Leu28Ser L28S not reviewed Insufficiently evaluated not reviewed unknown Array rs1049062 24 64 0.375 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - GSTA4 Thr185Shift T185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MCHR2 Leu210Shift L210Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIL Pro55Shift P55Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67010340 98 104 0.942308 36 0 36 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HPVC1 Phe114Shift F114Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61217951 1 126 0.00793651 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ERVWE1 Gln260Stop Q260X not reviewed Insufficiently evaluated not reviewed unknown Array 6 90 0.0666667 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs72310593 67 128 0.523438 22 0 42 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - PLOD3 Arg54Shift R54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C7ORF29 Trp223Shift W223Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3839683 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATG9B Pro766Shift P766Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56128050 2 126 0.015873 43 0 86 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AB209502 Glu28Shift E28Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11477062 8 124 0.0645161 48 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM160B2 Leu296Shift L296Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56981258 56 124 0.451613 24 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRKDC Leu1243Shift L1243Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11411516 20 128 0.15625 9 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRKDC Ile166Shift I166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RECQL4 Arg1005Gln R1005Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4251691 3522 10428 0.337745 19 0 26 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - OR1B1 Leu15Shift L15Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11421222 73 128 0.570312 39 0 55 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs73189994 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - HS6ST2 Lys135Shift K135Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11325587 63 64 0.984375 36 0 36 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001039768 Arg104Shift R104Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLCH2 Val559Met V559M not reviewed Insufficiently evaluated not reviewed unknown Array 377 10220 0.0368885 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHM2 Ile135Thr I135T not reviewed Insufficiently evaluated not reviewed unknown Array rs12091750 43 124 0.346774 25 0 39 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBXN11 GlyPro492Del GP492Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC104455 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array rs1574105 77 124 0.620968 45 0 66 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC104455 Arg155Gln R155Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1574104 76 122 0.622951 44 0 65 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GBP4 Glu551Arg E551R not reviewed Insufficiently evaluated not reviewed unknown Array rs561042 34 128 0.265625 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GBP4 MetGlu545LeuLys ME545LK not reviewed Insufficiently evaluated not reviewed unknown Array rs1142890 32 128 0.25 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SRGAP2 Gln87Arg Q87R not reviewed Insufficiently evaluated not reviewed unknown Array rs61806691 24 52 0.461538 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SEC22B Cys129Arg C129R not reviewed Insufficiently evaluated not reviewed unknown Array rs2590131 3644 10278 0.354544 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TDRKH Ala404Phe A404F not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NUP210L Tyr1294Asn Y1294N not reviewed Insufficiently evaluated not reviewed unknown Array 2 9606 0.000208203 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 5 Y 1 N - - C1ORF99 Ile117Val I117V not reviewed Insufficiently evaluated not reviewed unknown Array rs12076164 482 3234 0.149041 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_019049 Gly127Ser G127S not reviewed Insufficiently evaluated not reviewed unknown Array rs10494755 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC140931 Ser33Phe S33F not reviewed Insufficiently evaluated not reviewed unknown Array rs4382729 24 128 0.1875 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - DISP1 Glu103Asn E103N not reviewed Insufficiently evaluated not reviewed unknown Array rs71583926 31 128 0.242188 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OBSCN Arg2823Leu R2823L not reviewed Insufficiently evaluated not reviewed unknown Array rs3795786 10 128 0.078125 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 1 N - - OBSCN GluSer3372AspCys ES3372DC not reviewed Insufficiently evaluated not reviewed unknown Array rs3795789 10 128 0.078125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_032435 Val728Ile V728I not reviewed Insufficiently evaluated not reviewed unknown Array rs3795375 1941 10758 0.180424 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - NM_032435 Cys784Gly C784G not reviewed Insufficiently evaluated not reviewed unknown Array rs963981 2106 10758 0.195761 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK097474 Arg63Met R63M not reviewed Insufficiently evaluated not reviewed unknown Array rs1414125 54 128 0.421875 34 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ASB13 Ala77Val A77V not reviewed Insufficiently evaluated not reviewed unknown Array rs12573500 7 128 0.0546875 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TAF3 Val696Pro V696P not reviewed Insufficiently evaluated not reviewed unknown Array rs10795583 68 128 0.53125 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NR_003525 Pro199Leu P199L not reviewed Insufficiently evaluated not reviewed unknown Array rs16927663 91 3234 0.0281385 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DQ575272 Val197Leu V197L not reviewed Insufficiently evaluated not reviewed unknown Array rs2804653 25 76 0.328947 18 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF92 Leu660Phe L660F not reviewed Insufficiently evaluated not reviewed unknown Array rs3750587 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF92 Glu410Lys E410K not reviewed Insufficiently evaluated not reviewed unknown Array rs12356978 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC6 Thr1854Ile T1854I not reviewed Insufficiently evaluated not reviewed unknown Array rs56386804 43 90 0.477778 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC6 Thr1544Del T1544Del not reviewed Insufficiently evaluated not reviewed unknown Array rs12787777 21 78 0.269231 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC6 Thr1543Ala T1543A not reviewed Insufficiently evaluated not reviewed unknown Array 14 42 0.333333 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5AC Val804Ile V804I not reviewed Insufficiently evaluated not reviewed unknown Array rs56293203 67 10102 0.00663235 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK126380 Arg60Gly R60G not reviewed Insufficiently evaluated not reviewed unknown Array rs217218 9 128 0.0703125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR51E1 Ser10Asn S10N not reviewed Insufficiently evaluated not reviewed unknown Array rs17224476 9 128 0.0703125 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 0 N - - OR51A2 Ser97Asn S97N not reviewed Insufficiently evaluated not reviewed unknown Array rs3986371 49 120 0.408333 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR51B6 ThrPhe191AsnLeu TF191NL not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AB290171 Met69Thr M69T not reviewed Insufficiently evaluated not reviewed unknown Array rs58186801 24 126 0.190476 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AB290171 His915Asn H915N not reviewed Insufficiently evaluated not reviewed unknown Array rs11040920 35 126 0.277778 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB290171 Arg1884His R1884H not reviewed Insufficiently evaluated not reviewed unknown Array rs10769699 35 126 0.277778 25 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GVINP1 Lys1097Arg K1097R not reviewed Insufficiently evaluated not reviewed unknown Array rs11040982 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - STK33 AspAla436GluThr DA436ET not reviewed Insufficiently evaluated not reviewed unknown Array rs3751095 26 128 0.203125 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC136797 Ala144Asp A144D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC136797 Ser191Phe S191F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC136797 His264Asn H264N not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - OTOG Ala838Val A838V not reviewed Insufficiently evaluated not reviewed unknown Array rs1003490 15 128 0.117188 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC156059 Arg312Ser R312S not reviewed Insufficiently evaluated not reviewed unknown Array rs158633 18 128 0.140625 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR8U8 Gln293Arg Q293R not reviewed Insufficiently evaluated not reviewed unknown Array rs12272403 3974 9800 0.40551 19 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RPLP0P2 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array rs67140840 23 128 0.179688 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC021187 Pro28Leu P28L not reviewed Insufficiently evaluated not reviewed unknown Array rs198460 63 128 0.492188 42 0 51 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AX747192 Arg58His R58H not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747192 Pro57Ser P57S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RBM14 Arg101Cys R101C not reviewed Insufficiently evaluated not reviewed unknown Array rs15969 8 126 0.0634921 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 1 N - - AL832797 Asn54Ser N54S not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MMP12 Asn356Ser N356S not reviewed Insufficiently evaluated not reviewed unknown Array rs652438 878 9400 0.0934043 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB231705 Ser6Arg S6R not reviewed Insufficiently evaluated not reviewed unknown Array rs61896867 14 128 0.109375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR10G7 Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC104851 Phe12Leu F12L not reviewed Insufficiently evaluated not reviewed unknown Array rs4936211 20 128 0.15625 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NANOGP1 Asn212Ser N212S not reviewed Insufficiently evaluated not reviewed unknown Array rs6488762 21 106 0.198113 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRT3 AspVal496AlaLeu DV496AL not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DQ925367 Ala195Thr A195T not reviewed Insufficiently evaluated not reviewed unknown Array rs8176345 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR613142 Gly22Arg G22R not reviewed Insufficiently evaluated not reviewed unknown Array rs699596 48 128 0.375 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CR613142 Ala102Asp A102D not reviewed Insufficiently evaluated not reviewed unknown Array rs699597 48 128 0.375 30 0 38 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BC064342 Ile9Val I9V not reviewed Insufficiently evaluated not reviewed unknown Array rs10778292 20 128 0.15625 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C12ORF51 Gln3741Arg Q3741R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10192 0.00156986 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VSIG10 GluGlu473Del EE473Del not reviewed Insufficiently evaluated not reviewed unknown Array 15 60 0.25 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AB046765 Pro416Leu P416L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AB046765 Leu580Pro L580P not reviewed Insufficiently evaluated not reviewed unknown Array rs11146955 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PABPC3 ArgLeu206HisPhe RL206HF not reviewed Insufficiently evaluated not reviewed unknown Array rs74040928 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC153822 Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array rs72208047 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFHX2 Ala524Val A524V not reviewed Insufficiently evaluated not reviewed unknown Array rs61977703 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR597916 Lys28Asn K28N not reviewed Insufficiently evaluated not reviewed unknown Array rs10135219 45 128 0.351562 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR597916 Gly30Ser G30S not reviewed Insufficiently evaluated not reviewed unknown Array rs10145670 44 126 0.349206 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR597916 Ser66Asn S66N not reviewed Insufficiently evaluated not reviewed unknown Array rs10145770 25 128 0.195312 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTC6 Ile87Ser I87S not reviewed Insufficiently evaluated not reviewed unknown Array rs12896790 11 128 0.0859375 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - AK096898 Glu23Lys E23K not reviewed Insufficiently evaluated not reviewed unknown Array rs11626473 32 126 0.253968 19 0 24 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAM21P1 Ser4Gly S4G not reviewed Insufficiently evaluated not reviewed unknown Array rs61979492 47 102 0.460784 28 0 34 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C14ORF48 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs10142728 36 128 0.28125 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AX746996 Met21Lys M21K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF80 Arg189Gln R189Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34137879 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AJ004954 Thr110Met T110M not reviewed Insufficiently evaluated not reviewed unknown Array 12 122 0.0983607 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - GOLGA8E Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array rs2013757 20 22 0.909091 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HERC2P3 Val891Ala V891A not reviewed Insufficiently evaluated not reviewed unknown Array rs295761 36 82 0.439024 18 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HERC2P3 Arg814Gln R814Q not reviewed Insufficiently evaluated not reviewed unknown Array rs445981 10 62 0.16129 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERC2P3 Asp430Gly D430G not reviewed Insufficiently evaluated not reviewed unknown Array rs295746 17 52 0.326923 9 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AY271967 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array rs12440560 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - HSP90AB4P Thr501Ser T501S not reviewed Insufficiently evaluated not reviewed unknown Array rs7179724 27 124 0.217742 22 0 23 0 0 - - - - - - - - - - - - - - - - 0.278 - - -2 - 0 N - - PARP16 Leu72Gln L72Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - CCDC33 Lys34Del K34Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10552820 50 122 0.409836 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SYNM Gly1129Cys G1129C not reviewed Insufficiently evaluated not reviewed unknown Array rs9920074 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001040615 Ser140Thr S140T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - TPSG1 ArgArg193HisTrp RR193HW not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNKL Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATF7IP2 Thr62Del T62Del not reviewed Insufficiently evaluated not reviewed unknown Array rs56252625 2 116 0.0172414 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_014711 Met375Ile M375I not reviewed Insufficiently evaluated not reviewed unknown Array rs7190666 1718 10756 0.159725 17 0 20 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - VWA3A Cys353Tyr C353Y not reviewed Insufficiently evaluated not reviewed unknown Array rs55732851 14 126 0.111111 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VWA3A Asn692Ser N692S not reviewed Insufficiently evaluated not reviewed unknown Array rs9937453 39 128 0.304688 26 0 36 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_002557 Gln131Glu Q131E not reviewed Insufficiently evaluated not reviewed unknown Array rs77881742 113 116 0.974138 48 0 96 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC012355 His128Arg H128R not reviewed Insufficiently evaluated not reviewed unknown Array rs431516 29 86 0.337209 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDPR Tyr109His Y109H not reviewed Insufficiently evaluated not reviewed unknown Array rs2549532 45 98 0.459184 32 0 33 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 1 N - - AX747795 Arg106Trp R106W not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX747795 Ala41Asp A41D not reviewed Insufficiently evaluated not reviewed unknown Array rs12447897 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM38A His284Gln H284Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC139719 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array rs8049480 10 40 0.25 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC122528 Ile126Thr I126T not reviewed Insufficiently evaluated not reviewed unknown Array rs703896 4 54 0.0740741 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC122528 Stop172Arg X172R not reviewed Insufficiently evaluated not reviewed unknown Array rs2317673 24 62 0.387097 9 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR3A2 Asp130Ala D130A not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - OR3A4 Ile42Val I42V not reviewed Insufficiently evaluated not reviewed unknown Array rs9905684 2209 10758 0.205336 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR3A4 Ser86Arg S86R not reviewed Insufficiently evaluated not reviewed unknown Array rs9905086 2207 10758 0.20515 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR3A4 Glu103Gln E103Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9903671 2205 10758 0.204964 26 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - OR3A4 Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR3A4 Pro168Thr P168T not reviewed Insufficiently evaluated not reviewed unknown Array rs9911226 2172 10758 0.201896 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR3A4 Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array rs9912090 1911 10758 0.177635 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK310981 Gly170Val G170V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK057919 Ser113Pro S113P not reviewed Insufficiently evaluated not reviewed unknown Array rs12951761 47 118 0.398305 29 0 34 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MINK1 Pro692Leu P692L not reviewed Insufficiently evaluated not reviewed unknown Array rs11556635 82 128 0.640625 41 0 66 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MINK1 Val780Ile V780I not reviewed Insufficiently evaluated not reviewed unknown Array rs2302319 14 122 0.114754 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC070367 Arg2Gln R2Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72842072 18 128 0.140625 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC070367 Asp115Asn D115N not reviewed Insufficiently evaluated not reviewed unknown Array 16 128 0.125 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SARM1 GlySer182ValAla GS182VA not reviewed Insufficiently evaluated not reviewed unknown Array rs71373645 124 124 1 51 0 51 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LRRC37BP1 Tyr166Asp Y166D not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NPEPPS Leu67Ile L67I not reviewed Insufficiently evaluated not reviewed unknown Array 23 120 0.191667 19 0 19 0 0 - - - - - - - - - - - - - - - - 0.246 - - -2 - 0 N - - LASP1 Ser107Leu S107L not reviewed Insufficiently evaluated not reviewed unknown Array rs3744075 567 10758 0.052705 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KRT40 Cys349Arg C349R not reviewed Insufficiently evaluated not reviewed unknown Array rs8064910 1912 10744 0.17796 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.81 - - 8 Y 0 N - - MPP2 HisVal80GlnLeu HV80QL not reviewed Insufficiently evaluated not reviewed unknown Array rs70964679 114 114 1 46 0 46 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC041481 Asn154Thr N154T not reviewed Insufficiently evaluated not reviewed unknown Array rs9907151 31 128 0.242188 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRRC37A Thr1207Gly T1207G not reviewed Insufficiently evaluated not reviewed unknown Array rs1863117 33 88 0.375 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AF532777 Thr79Arg T79R not reviewed Insufficiently evaluated not reviewed unknown Array rs2271891 65 120 0.541667 38 0 51 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HILS1 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36107109 14 128 0.109375 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 1 N - - MYCBPAP Arg87His R87H not reviewed Insufficiently evaluated not reviewed unknown Array rs61749930 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MYCBPAP Gly128Ser G128S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 2 - 2 N - - SDK2 Arg171Leu R171L not reviewed Insufficiently evaluated not reviewed unknown Array rs35867741 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - QRICH2 Ile630Ala I630A not reviewed Insufficiently evaluated not reviewed unknown Array rs6501878 21 90 0.233333 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AL832652 His953Cys H953C not reviewed Insufficiently evaluated not reviewed unknown Array rs12941494 19 128 0.148438 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NM_173627 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34933300 2011 10464 0.192183 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - LOXHD1 Cys1066Phe C1066F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - POLI Asp17Del D17Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3729509 4 112 0.0357143 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR749350 Tyr41Cys Y41C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR618658 Gln405Arg Q405R not reviewed Insufficiently evaluated not reviewed unknown Array rs2278154 43 128 0.335938 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLK5P Pro272Del P272Del not reviewed Insufficiently evaluated not reviewed unknown Array rs67816271 52 124 0.419355 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX747577 Phe18Ile F18I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK098244 Glu547Gly E547G not reviewed Insufficiently evaluated not reviewed unknown Array rs16991953 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C19ORF45 Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array 4 110 0.0363636 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001013640 Ser26Phe S26F not reviewed Insufficiently evaluated not reviewed unknown Array rs73009214 13 128 0.101562 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 1 N - - CCDC159 Cys355Ser C355S not reviewed Insufficiently evaluated not reviewed unknown Array rs6887 53 128 0.414062 34 0 44 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CYP4F8 Thr151Met T151M not reviewed Insufficiently evaluated not reviewed unknown Array rs61746468 1610 10758 0.149656 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA1683 His551Tyr H551Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73523119 33 128 0.257812 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1683 Ser300Cys S300C not reviewed Insufficiently evaluated not reviewed unknown Array rs72479531 29 120 0.241667 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF826P Cys148Tyr C148Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7247776 46 116 0.396552 24 0 33 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RPSA His36Gln H36Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9305011 49 50 0.98 18 0 36 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RPSA Ser235Ala S235A not reviewed Insufficiently evaluated not reviewed unknown Array rs10460210 93 98 0.94898 38 0 74 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GPR42P Val256Ala V256A not reviewed Insufficiently evaluated not reviewed unknown Array rs424715 24 0 47 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF568 Arg20Leu R20L not reviewed Insufficiently evaluated not reviewed unknown Array rs3816390 28 126 0.222222 21 0 23 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF568 Arg81Leu R81L not reviewed Insufficiently evaluated not reviewed unknown Array rs3816391 27 128 0.210938 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF527 ProTyr301LeuCysAsn PY301LCN not reviewed Insufficiently evaluated not reviewed unknown Array rs2385182 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK310944 Stop291Trp X291W not reviewed Insufficiently evaluated not reviewed unknown Array rs12986210 28 124 0.225806 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PSG8 Thr10Met T10M not reviewed Insufficiently evaluated not reviewed unknown Array rs34129574 38 98 0.387755 26 0 26 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 1 N - - BC034980 Ser639Arg S639R not reviewed Insufficiently evaluated not reviewed unknown Array rs3815422 23 126 0.18254 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC034980 Asp694Asn D694N not reviewed Insufficiently evaluated not reviewed unknown Array rs2302421 22 126 0.174603 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC014430 Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK054965 Ser233Tyr S233Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3794984 21 128 0.164062 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AK054965 Ile38Met I38M not reviewed Insufficiently evaluated not reviewed unknown Array rs7252645 26 128 0.203125 21 0 24 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF841 Thr789Pro T789P not reviewed Insufficiently evaluated not reviewed unknown Array rs61743893 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - LILRB3 His409Phe H409F not reviewed Insufficiently evaluated not reviewed unknown Array rs1132606 46 68 0.676471 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LILRB3 Ala120Phe A120F not reviewed Insufficiently evaluated not reviewed unknown Array 19 64 0.296875 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BC130540 Gly54Glu G54E not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC029459 Gly181Asp G181D not reviewed Insufficiently evaluated not reviewed unknown Array rs2288072 70 124 0.564516 36 0 51 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ITSN2 Arg1336Trp R1336W not reviewed Insufficiently evaluated not reviewed unknown Array rs41281481 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CIB4 Phe161Del F161Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CAPN13 Ile593Thr I593T not reviewed Insufficiently evaluated not reviewed unknown Array rs2276568 481 9748 0.0493435 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAPN14 Val450Ile V450I not reviewed Insufficiently evaluated not reviewed unknown Array rs4592896 57 126 0.452381 32 0 46 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CAPN14 Asp344Asn D344N not reviewed Insufficiently evaluated not reviewed unknown Array rs7422120 49 128 0.382812 27 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CAPN14 Lys334Asn K334N not reviewed Insufficiently evaluated not reviewed unknown Array rs1465972 49 128 0.382812 27 0 40 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - CAPN14 Val107Met V107M not reviewed Insufficiently evaluated not reviewed unknown Array rs72797147 5 128 0.0390625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSME4 Ser1257Thr S1257T not reviewed Insufficiently evaluated not reviewed unknown Array rs805408 28 128 0.21875 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NAT8B Val118Leu V118L not reviewed Insufficiently evaluated not reviewed unknown Array rs62619834 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB290165 Val638Ala V638A not reviewed Insufficiently evaluated not reviewed unknown Array 12 128 0.09375 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AB290165 Gly921Ala G921A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001029996 Met509Ile M509I not reviewed Insufficiently evaluated not reviewed unknown Array rs11686014 1689 10758 0.156999 17 0 21 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC132926 Arg268Lys R268K not reviewed Insufficiently evaluated not reviewed unknown Array rs72885464 31 128 0.242188 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NM_207482 Leu863Gln L863Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72900086 22 128 0.171875 12 0 14 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - MFF Ser7Phe S7F not reviewed Insufficiently evaluated not reviewed unknown Array rs3211097 29 128 0.226562 22 0 22 0 0 - - - - - - - - - - - - - - - - 0.578 - - 5 Y 0 N - - AF451986 Gly76Arg G76R not reviewed Insufficiently evaluated not reviewed unknown Array rs7558525 18 120 0.15 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AF451986 Pro48His P48H not reviewed Insufficiently evaluated not reviewed unknown Array rs7584376 22 128 0.171875 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AF451986 Val23Gly V23G not reviewed Insufficiently evaluated not reviewed unknown Array rs7572392 22 128 0.171875 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NR_024014 Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3828336 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIRPA Thr50Ser T50S not reviewed Insufficiently evaluated not reviewed unknown Array rs17855609 124 9882 0.0125481 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC128043 Asp97Ser D97S not reviewed Insufficiently evaluated not reviewed unknown Array rs3002702 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCC13 Ser228Asn S228N not reviewed Insufficiently evaluated not reviewed unknown Array rs2822558 14 128 0.109375 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - C21ORF129 Cys92Arg C92R not reviewed Insufficiently evaluated not reviewed unknown Array rs2838096 1207 3234 0.373222 24 0 27 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KRTAP10-7 Arg62Tyr R62Y not reviewed Insufficiently evaluated not reviewed unknown Array rs70940584 49 62 0.790323 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COL18A1 Asp1440Asn D1440N not reviewed Insufficiently evaluated not reviewed unknown Array rs12483377 7 128 0.0546875 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - PCBP3 Arg144Gln R144Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC065749 Arg29His R29H not reviewed Insufficiently evaluated not reviewed unknown Array rs28372939 30 128 0.234375 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CARD10 Ala79Glu A79E not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP2D7P1 Tyr265Cys Y265C not reviewed Insufficiently evaluated not reviewed unknown Array rs28510588 18 118 0.152542 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TTLL12 Phe135Cys F135C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRR5-ARHGAP8 Gly338Arg G338R not reviewed Insufficiently evaluated not reviewed unknown Array rs6007344 39 122 0.319672 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADM2 HisSerGlyProArgArg95Del HSGPRR95Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3840963 9 116 0.0775862 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK311646 Lys45Glu K45E not reviewed Insufficiently evaluated not reviewed unknown Array rs3762783 50 128 0.390625 30 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF48 Ala260Thr A260T not reviewed Insufficiently evaluated not reviewed unknown Array rs4103004 36 128 0.28125 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C3ORF48 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs9882323 10 128 0.078125 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRANK1 Glu540Gly E540G not reviewed Insufficiently evaluated not reviewed unknown Array rs11712950 2017 10042 0.200856 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TRANK1 Gly8Ser G8S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC21A Arg1135Gln R1135Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73070244 139 10124 0.0137298 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM198A His200Tyr H200Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2936817 50 128 0.390625 30 0 40 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM198A Gln433Arg Q433R not reviewed Insufficiently evaluated not reviewed unknown Array rs536119 69 128 0.539062 43 0 58 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SETD2 Thr89Lys T89K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC36 Asp430Glu D430E not reviewed Insufficiently evaluated not reviewed unknown Array rs13068038 15 128 0.117188 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KBTBD8 Phe153Leu F153L not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Thr86Ile T86I not reviewed Insufficiently evaluated not reviewed unknown Array 9 82 0.109756 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF717 MetLeu51IleVal ML51IV not reviewed Insufficiently evaluated not reviewed unknown Array rs72503552 16 84 0.190476 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array 5 86 0.0581395 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC101231 Gly45Trp G45W not reviewed Insufficiently evaluated not reviewed unknown Array rs9837335 37 114 0.324561 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C3ORF66 Asp10Tyr D10Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62621254 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC48 Arg91Gln R91Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3732430 45 128 0.351562 30 0 34 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - TOPBP1 Ser730Leu S730L not reviewed Insufficiently evaluated not reviewed unknown Array rs17301766 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC105690 Pro157Leu P157L not reviewed Insufficiently evaluated not reviewed unknown Array rs678690 49 124 0.395161 28 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_032487 Leu251Val L251V not reviewed Insufficiently evaluated not reviewed unknown Array rs34273285 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF718 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs7440274 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AX747178 Asp139Gly D139G not reviewed Insufficiently evaluated not reviewed unknown Array rs56401136 57 124 0.459677 38 0 48 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX746699 Ala181Thr A181T not reviewed Insufficiently evaluated not reviewed unknown Array rs73235032 27 128 0.210938 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC157885 Tyr608His Y608H not reviewed Insufficiently evaluated not reviewed unknown Array rs60640167 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LIMCH1 Leu477Ile L477I not reviewed Insufficiently evaluated not reviewed unknown Array rs73135482 42 128 0.328125 28 0 40 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LIMCH1 Pro1318Ser P1318S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745963 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK095318 Tyr7Cys Y7C not reviewed Insufficiently evaluated not reviewed unknown Array rs3733504 347 3234 0.107297 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - UGT2B28 Cys469Pro C469P not reviewed Insufficiently evaluated not reviewed unknown Array rs72552704 23 110 0.209091 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SHROOM3 Pro468Ala P468A not reviewed Insufficiently evaluated not reviewed unknown Array rs344141 60 128 0.46875 34 0 46 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SHROOM3 Arg1429Gln R1429Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61741104 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - EEF1A1P9 Phe142Tyr F142Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CCDC109B Tyr165Phe Y165F not reviewed Insufficiently evaluated not reviewed unknown Array rs13846 23 128 0.179688 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LRBA Ser2797Leu S2797L not reviewed Insufficiently evaluated not reviewed unknown Array rs2290846 20 126 0.15873 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_173667 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array rs436696 3298 9854 0.334686 24 0 26 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 1 N - - FBXL21 Val172Del V172Del not reviewed Insufficiently evaluated not reviewed unknown Array rs1160982 3 120 0.025 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHB4 Pro255Phe P255F not reviewed Insufficiently evaluated not reviewed unknown Array rs3733698 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PCDHB9 Lys413Glu K413E not reviewed Insufficiently evaluated not reviewed unknown Array rs10040383 2905 10758 0.270032 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB9 Leu425Met L425M not reviewed Insufficiently evaluated not reviewed unknown Array rs2697530 1635 10758 0.15198 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - HAVCR1 Thr200Del T200Del not reviewed Insufficiently evaluated not reviewed unknown Array rs45439103 37 126 0.293651 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GMCL1L His71Asp H71D not reviewed Insufficiently evaluated not reviewed unknown Array rs2913782 40 126 0.31746 26 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GMCL1L Glu69Asp E69D not reviewed Insufficiently evaluated not reviewed unknown Array rs2961665 37 120 0.308333 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF354A Gly500Asp G500D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - BC130444 Asp22His D22H not reviewed Insufficiently evaluated not reviewed unknown Array rs7731123 4 68 0.0588235 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAGE1 Glu144Ala E144A not reviewed Insufficiently evaluated not reviewed unknown Array rs2876098 1246 9952 0.125201 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CMAH Leu9Ile L9I not reviewed Insufficiently evaluated not reviewed unknown Array rs2273671 14 128 0.109375 20 0 21 1 1 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - This is a pseudogene; variants are of no consequence. ZKSCAN3 Lys200Ala K200A not reviewed Insufficiently evaluated not reviewed unknown Array rs13201752 42 128 0.328125 32 0 32 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-F Asn353Leu N353L not reviewed Insufficiently evaluated not reviewed unknown Array rs3734814 28 128 0.21875 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001004349 His17Arg H17R not reviewed Insufficiently evaluated not reviewed unknown Array rs2516709 40 116 0.344828 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MICA Ser229Gly S229G not reviewed Insufficiently evaluated not reviewed unknown Array rs1051797 845 3234 0.261286 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - E00702 Asn112His N112H not reviewed Insufficiently evaluated not reviewed unknown Array rs3093665 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRRC2A Asp1766Gly D1766G not reviewed Insufficiently evaluated not reviewed unknown Array rs35201773 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRRC2A Val1774Met V1774M not reviewed Insufficiently evaluated not reviewed unknown Array rs11538264 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCC10 Ile948Thr I948T not reviewed Insufficiently evaluated not reviewed unknown Array rs2125739 2990 10758 0.277933 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAPN11 Ser691Asn S691N not reviewed Insufficiently evaluated not reviewed unknown Array rs7761137 40 128 0.3125 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CASP8AP2 ThrSerLeuProArgHisGly1567His TSLPRHG1567H not reviewed Insufficiently evaluated not reviewed unknown Array 16 128 0.125 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK124171 Ser24Phe S24F not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AK124171 Ser13Pro S13P not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPRC6A LysTyr774ArgLysLeuPro KY774RKLP not reviewed Insufficiently evaluated not reviewed unknown Array 29 128 0.226562 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LAMA2 Ala2585Val A2585V not reviewed Insufficiently evaluated not reviewed unknown Array rs6569605 6850 10758 0.636735 39 0 53 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - TAAR9 Ala277Thr A277T not reviewed Insufficiently evaluated not reviewed unknown Array rs9389004 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747618 Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC122560 Thr158Ala T158A not reviewed Insufficiently evaluated not reviewed unknown Array rs6931553 1976 3186 0.620213 42 0 64 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK308991 Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array rs62447564 928 3234 0.286951 28 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK308991 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs17875208 208 3234 0.0643166 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NACAD Ala1305Gly A1305G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC14C Arg345His R345H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERVWE1 Gly339Asp G339D not reviewed Insufficiently evaluated not reviewed unknown Array 17 88 0.193182 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.157 - - 4 Y 0 N - - ERVWE1 Ala327Thr A327T not reviewed Insufficiently evaluated not reviewed unknown Array 10 94 0.106383 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 0 N - - ERVWE1 Gly141Ser G141S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ERVWE1 Arg138Trp R138W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ERVWE1 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZAN Asn2072Ser N2072S not reviewed Insufficiently evaluated not reviewed unknown Array rs314300 4205 10134 0.41494 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZAN Ala2510Val A2510V not reviewed Insufficiently evaluated not reviewed unknown Array 507 10068 0.0503576 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZAN Gly2669Ala G2669A not reviewed Insufficiently evaluated not reviewed unknown Array rs314344 5718 10148 0.563461 42 0 58 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC3A Thr38Met T38M not reviewed Insufficiently evaluated not reviewed unknown Array 343 4586 0.0747928 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC3A Gln397Trp Q397W not reviewed Insufficiently evaluated not reviewed unknown Array rs79874934 36 124 0.290323 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC3A Glu602Ala E602A not reviewed Insufficiently evaluated not reviewed unknown Array rs73714276 50 104 0.480769 42 0 42 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RABL5 Gly94Arg G94R not reviewed Insufficiently evaluated not reviewed unknown Array rs58660040 14 128 0.109375 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NR_001296 Gln56Lys Q56K not reviewed Insufficiently evaluated not reviewed unknown Array rs10808019 1173 3234 0.362709 20 0 37 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - FAM115C Trp484Arg W484R not reviewed Insufficiently evaluated not reviewed unknown Array 11 102 0.107843 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2A14 Phe177Del F177Del not reviewed Insufficiently evaluated not reviewed unknown Array rs66549240 35 128 0.273438 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AF035281 Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747124 MetTyrMetCysValHis26Del MYMCVH26Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60413119 41 102 0.401961 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AB209502 Gln2757His Q2757H not reviewed Insufficiently evaluated not reviewed unknown Array rs34337712 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001080826 Ser576Cys S576C not reviewed Insufficiently evaluated not reviewed unknown Array rs4840953 2985 10076 0.296249 26 0 37 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001080826 Pro567Leu P567L not reviewed Insufficiently evaluated not reviewed unknown Array rs4840954 2923 10068 0.290326 32 0 32 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001080826 Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3896980 3119 9720 0.320885 30 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RP1L1 ThrGlu1327ValIle TE1327VI not reviewed Insufficiently evaluated not reviewed unknown Array 7 118 0.059322 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C8ORF49 Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array rs36018280 13 128 0.101562 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR611604 Ile225Val I225V not reviewed Insufficiently evaluated not reviewed unknown Array rs7836217 46 126 0.365079 27 0 36 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C8ORF45 Ala51Val A51V not reviewed Insufficiently evaluated not reviewed unknown Array 7 126 0.0555556 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C8ORF34 Ala426Thr A426T not reviewed Insufficiently evaluated not reviewed unknown Array rs16935065 2001 10758 0.186001 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM92A1 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36117362 968 9488 0.102024 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_002304 Asn214Asp N214D not reviewed Insufficiently evaluated not reviewed unknown Array rs13274084 16 128 0.125 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_207414 Ser190Asn S190N not reviewed Insufficiently evaluated not reviewed unknown Array 893 10110 0.0883284 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPPK1 Leu2373Val L2373V not reviewed Insufficiently evaluated not reviewed unknown Array rs7005697 35 80 0.4375 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EPPK1 Val1839Ile V1839I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EPPK1 Asp177Asn D177N not reviewed Insufficiently evaluated not reviewed unknown Array rs13260439 24 114 0.210526 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TONSL Ala555Val A555V not reviewed Insufficiently evaluated not reviewed unknown Array rs7830832 45 118 0.381356 27 0 33 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK094577 Leu53Met L53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PTENP1 Phe307Val F307V not reviewed Insufficiently evaluated not reviewed unknown Array rs58865272 35 128 0.273438 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PTENP1 Val152Leu V152L not reviewed Insufficiently evaluated not reviewed unknown Array rs7853346 35 128 0.273438 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CNTNAP3B Arg151Gly R151G not reviewed Insufficiently evaluated not reviewed unknown Array rs2778238 106 108 0.981481 43 0 86 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC011779 Leu30Pro L30P not reviewed Insufficiently evaluated not reviewed unknown Array rs1809740 10 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAMDC2 Lys355Del K355Del not reviewed Insufficiently evaluated not reviewed unknown Array rs61609258 10 118 0.0847458 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR613032 Gln194Arg Q194R not reviewed Insufficiently evaluated not reviewed unknown Array rs2778390 47 122 0.385246 31 0 38 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001100111 Pro50Gln P50Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72751473 10 128 0.078125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C9ORF174 Ser995Cys S995C not reviewed Insufficiently evaluated not reviewed unknown Array rs2061634 3492 10758 0.324596 29 0 33 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AL834139 Val269Met V269M not reviewed Insufficiently evaluated not reviewed unknown Array rs10118786 9 128 0.0703125 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AL834139 Arg272Trp R272W not reviewed Insufficiently evaluated not reviewed unknown Array rs12352819 9 128 0.0703125 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LAMC3 Pro174Gln P174Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2275137 26 124 0.209677 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR593643 Ser294Thr S294T not reviewed Insufficiently evaluated not reviewed unknown Array 13 110 0.118182 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - VCX Ala108Ser A108S not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DGKK Asp1111Asn D1111N not reviewed Insufficiently evaluated not reviewed unknown Array rs4074320 1362 8143 0.16726 14 0 25 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_207422 Glu68Lys E68K not reviewed Insufficiently evaluated not reviewed unknown Array rs6624600 2037 8761 0.232508 23 0 39 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - MID2 Ala358Asp A358D not reviewed Insufficiently evaluated not reviewed unknown Array rs12849510 2 92 0.0217391 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HS6ST2 Asn136Ile N136I not reviewed Insufficiently evaluated not reviewed unknown Array rs57724954 64 64 1 37 0 73 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HS6ST2 Arg130Gly R130G not reviewed Insufficiently evaluated not reviewed unknown Array rs7053390 59 59 1 33 0 65 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HS6ST2 Asn126Lys N126K not reviewed Insufficiently evaluated not reviewed unknown Array rs7053397 56 56 1 31 0 62 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC061642 Val50Ala V50A not reviewed Insufficiently evaluated not reviewed unknown Array rs1133828 20 81 0.246914 17 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_207107 Arg350His R350H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPPA Stop152Arg X152R not reviewed Insufficiently evaluated not reviewed unknown Array rs5065 2591 10758 0.240844 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PDE4DIP Glu243Shift E243Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3215779 13 124 0.104839 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GBA Arg140Trp R140W not reviewed Insufficiently evaluated not reviewed unknown Array rs1057941 45 126 0.357143 24 0 35 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - PPFIA4 Pro732Shift P732Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10635298 32 128 0.25 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2T4 Ile253Shift I253Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34079073 52 118 0.440678 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDH23 Ser494Asn S494N not reviewed Insufficiently evaluated not reviewed unknown Array rs10999947 2568 10370 0.247637 23 0 27 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - H19 Val94Ile V94I not reviewed Insufficiently evaluated not reviewed unknown Array rs2067051 39 108 0.361111 21 0 29 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - H19 Trp38Arg W38R not reviewed Insufficiently evaluated not reviewed unknown Array rs2075745 41 120 0.341667 25 0 32 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - OR52D1 Thr204Shift T204Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs36066208 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABTB2 Ser632Shift S632Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR6Q1 Leu229Shift L229Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34846253 14 122 0.114754 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH3B1 Arg264Shift R264Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58160034 44 72 0.611111 14 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH3B1 Gln422Shift Q422Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58238184 90 128 0.703125 35 0 70 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - B3GNT1 Leu335Shift L335Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11292200 37 0 37 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AMOTL1 Ser865Shift S865Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ROBO3 ArgSer1367Del RS1367Del not reviewed Insufficiently evaluated not reviewed unknown Array rs56085444 11 110 0.1 29 0 29 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - KRT4 Gly160GlyAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly G160GAGGFGAGFGTGGFG not reviewed Insufficiently evaluated not reviewed unknown Array rs71092788 1 126 0.00793651 33 0 33 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TGM1 Tyr312Shift Y312Shift pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 3 Y - - 0 Y 0 Y 3 - 1 - Y - - - - Y Y 4 Y 4 N 1 0 No known reports, but predicted to be highly disruptive and cause congenital ichthyosis in a recessive manner. HEATR5A Gln1634Shift Q1634Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HEATR5A Arg966Shift R966Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPHB5 Phe53Shift F53Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11452510 2 124 0.016129 47 0 94 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Lys1121Del K1121Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y 4 Y 3 N - - TPSD1 Glu43Shift E43Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5815084 5 78 0.0641026 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NPEPPS Trp152Stop W152X not reviewed Insufficiently evaluated not reviewed unknown Array rs62074778 20 110 0.181818 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ADAM11 Arg141Stop R141X not reviewed Insufficiently evaluated not reviewed unknown Array 88 3234 0.0272109 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC033456 Gln139Stop Q139X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZACN Gln280Stop Q280X not reviewed Insufficiently evaluated not reviewed unknown Array rs1043149 16 116 0.137931 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ZNF516 Val1031Shift V1031Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56087742 87 92 0.945652 30 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NPHS1 Phe873Shift F873Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PSG8 Tyr120Shift Y120Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11355507 16 126 0.126984 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DHDH Ala173Shift A173Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58913518 1 116 0.00862069 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DHDH Glu294Shift E294Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3835153 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GEN1 Lys839Shift K839Shift not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PNPT1 Val99Shift V99Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DYSF Glu1065GluAlaGlu E1065EAE not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Arg32017His R32017H not reviewed Insufficiently evaluated not reviewed unknown Array rs3829747 18 128 0.140625 13 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TTN Arg29961His R29961H not reviewed Insufficiently evaluated not reviewed unknown Array rs3731749 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TTN Ile26819Thr I26819T not reviewed Insufficiently evaluated not reviewed unknown Array rs9808377 59 128 0.460938 36 0 50 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Ile25198Val I25198V not reviewed Insufficiently evaluated not reviewed unknown Array rs3829746 59 128 0.460938 36 0 50 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Thr24044Met T24044M not reviewed Insufficiently evaluated not reviewed unknown Array rs3731746 38 126 0.301587 25 0 33 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TTN Arg22370Cys R22370C not reviewed Insufficiently evaluated not reviewed unknown Array rs744426 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - TTN Val19782Ile V19782I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303838 41 128 0.320312 28 0 36 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Thr18826Ile T18826I not reviewed Insufficiently evaluated not reviewed unknown Array rs2042996 59 128 0.460938 36 0 49 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Arg16902His R16902H not reviewed Insufficiently evaluated not reviewed unknown Array rs2288569 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TTN Asn16125Asp N16125D not reviewed Insufficiently evaluated not reviewed unknown Array rs1001238 3083 9582 0.321749 37 0 51 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - PLK1S1 Ala462Shift A462Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58447771 113 126 0.896825 47 0 93 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRODH Trp185Gln W185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11913840 14 126 0.111111 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - RPS19BP1 Ala31Shift A31Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP2D6 Lys281Del K281Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PNPLA3 His22Shift H22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMB2 Glu1271Shift E1271Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ZNF717 Thr208Shift T208Shift not reviewed Insufficiently evaluated not reviewed unknown Array 30 96 0.3125 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD200R1L His203Shift H203Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58161637 20 128 0.15625 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR52 Arg218Shift R218Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001040071 Ser194Stop S194X not reviewed Insufficiently evaluated not reviewed unknown Array 16 110 0.145455 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PROM1 Val506Shift V506Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ZNF474 Leu318Shift L318Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3217313 20 128 0.15625 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPINK9 Cys32Shift C32Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BTNL2 His151Shift H151Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60740710 16 128 0.125 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DQA1 ArgTrp70CysLeu RW70CL not reviewed Insufficiently evaluated not reviewed unknown Array rs1142326 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - HLA-DQA1 GluPhe73ValLeu EF73VL not reviewed Insufficiently evaluated not reviewed unknown Array rs3208105 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - HLA-DQA1 SerLys75ArgGln SK75RQ not reviewed Insufficiently evaluated not reviewed unknown Array rs9272699 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - HLA-DQA1 Gly84Phe G84F not reviewed Insufficiently evaluated not reviewed unknown Array rs9272702 12 98 0.122449 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - HLA-DQA1 Ala92Leu A92L not reviewed Insufficiently evaluated not reviewed unknown Array rs3188501 16 106 0.150943 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - HLA-DQA1 IleMet98SerLeu IM98SL not reviewed Insufficiently evaluated not reviewed unknown Array rs9279910 7 106 0.0660377 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - COL10A1 Gly434Shift G434Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - AX746636 Arg83Stop R83X not reviewed Insufficiently evaluated not reviewed unknown Array rs815957 26 106 0.245283 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - NM_181722 Thr18Shift T18Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71523758 53 128 0.414062 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WASL Pro303Shift P303Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRBA1 Arg552Shift R552Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11424737 93 118 0.788136 36 0 71 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF49 Cys194Stop C194X not reviewed Insufficiently evaluated not reviewed unknown Array rs809203 29 128 0.226562 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - FBXO32 Gln13Shift Q13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR1J2 Ile105Shift I105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DMD Lys2366Gln K2366Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800275 1764 8758 0.201416 11 0 17 0 0 - - - - - - - - - - - - Y - - - 0.875 Y Y -2 - 3 N - - C1ORF167 Lys378Gln K378Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41275464 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001089591 Tyr53Cys Y53C not reviewed Insufficiently evaluated not reviewed unknown Array rs7417535 2090 10758 0.194274 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001089591 Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array rs61744357 2095 10758 0.194739 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM46B His415Arg H415R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737591 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM46B Thr19Lys T19K not reviewed Insufficiently evaluated not reviewed unknown Array rs4970471 24 120 0.2 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IFI44L Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - IFI44L Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array rs3820093 16 126 0.126984 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HRNR His2772Arg H2772R not reviewed Insufficiently evaluated not reviewed unknown Array rs76102381 4030 9252 0.435582 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR598521 Ser13Asn S13N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR625159 Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRRC2C Gly1213Glu G1213E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRRC2C Ala1885Thr A1885T not reviewed Insufficiently evaluated not reviewed unknown Array rs12025905 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC039493 Arg17Trp R17W not reviewed Insufficiently evaluated not reviewed unknown Array rs34246004 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_032435 Glu741Asp E741D not reviewed Insufficiently evaluated not reviewed unknown Array rs3795374 2107 10758 0.195854 17 0 19 0 0 - - - - - - - - - - - - - - - - 0.207 - - -2 - 0 N - - AK310613 Trp110Stop W110X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MARCH8 Leu186Phe L186F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ596646 Ser88Leu S88L not reviewed Insufficiently evaluated not reviewed unknown Array rs1681724 102 112 0.910714 36 0 72 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC5AC Ser5219Leu S5219L not reviewed Insufficiently evaluated not reviewed unknown Array rs55693520 260 10560 0.0246212 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5AC Asp5889Asn D5889N not reviewed Insufficiently evaluated not reviewed unknown Array rs55856616 462 9832 0.0469894 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR591411 Cys52Ser C52S not reviewed Insufficiently evaluated not reviewed unknown Array rs62623399 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_021489 His166Tyr H166Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35925287 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GVINP1 Glu1126Lys E1126K not reviewed Insufficiently evaluated not reviewed unknown Array rs11040980 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GVINP1 Ser993Asn S993N not reviewed Insufficiently evaluated not reviewed unknown Array rs11040983 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GVINP1 His773Asn H773N not reviewed Insufficiently evaluated not reviewed unknown Array rs10769716 31 128 0.242188 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GVINP1 Gln573Arg Q573R not reviewed Insufficiently evaluated not reviewed unknown Array rs11040984 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GVINP1 Cys487Tyr C487Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11040985 17 126 0.134921 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GVINP1 Ser378Phe S378F not reviewed Insufficiently evaluated not reviewed unknown Array rs10839601 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GVINP1 Val355Met V355M not reviewed Insufficiently evaluated not reviewed unknown Array rs10839602 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GVINP1 Ile269Met I269M not reviewed Insufficiently evaluated not reviewed unknown Array rs10839604 17 128 0.132812 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC126376 Thr7Pro T7P not reviewed Insufficiently evaluated not reviewed unknown Array rs3740704 36 128 0.28125 24 0 32 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR8U8 Val91Ser V91S not reviewed Insufficiently evaluated not reviewed unknown Array rs77605888 4 116 0.0344828 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR8U8 His229Ser H229S not reviewed Insufficiently evaluated not reviewed unknown Array 8 126 0.0634921 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RPLP0P2 Arg62His R62H not reviewed Insufficiently evaluated not reviewed unknown Array rs17626916 19 126 0.150794 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RPLP0P2 Leu318Arg L318R not reviewed Insufficiently evaluated not reviewed unknown Array rs12281961 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC021187 Leu13Phe L13F not reviewed Insufficiently evaluated not reviewed unknown Array rs198459 15 128 0.117188 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC22A20 Arg393Trp R393W not reviewed Insufficiently evaluated not reviewed unknown Array rs61743983 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A20 Asp400His D400H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742143 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_138368 Ser770Gly S770G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC110365 Arg95Cys R95C not reviewed Insufficiently evaluated not reviewed unknown Array rs35824312 2 54 0.037037 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SHANK2 Arg223His R223H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BX647206 Asp310Asn D310N not reviewed Insufficiently evaluated not reviewed unknown Array 218 3234 0.0674088 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C12ORF32 Lys27Arg K27R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NM_001080502 Phe1265Val F1265V not reviewed Insufficiently evaluated not reviewed unknown Array rs58035829 52 102 0.509804 29 0 46 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_020941 Leu326Met L326M not reviewed Insufficiently evaluated not reviewed unknown Array rs3741554 17 128 0.132812 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK309452 Pro53Arg P53R not reviewed Insufficiently evaluated not reviewed unknown Array rs41477552 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC070039 Arg35Gly R35G not reviewed Insufficiently evaluated not reviewed unknown Array rs41477552 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747640 Gly109Asp G109D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC064342 Arg35His R35H not reviewed Insufficiently evaluated not reviewed unknown Array rs11612613 22 128 0.171875 19 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DAO Arg203Cys R203C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NBEA Ile2344Val I2344V not reviewed Insufficiently evaluated not reviewed unknown Array 40 9462 0.00422744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK057244 Leu661Phe L661F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - 0 - 1 N - - GUCY1B2 Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array rs17075173 597 3234 0.184601 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DIS3 Stop959Gln X959Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC034570 Cys220Tyr C220Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41284486 14 128 0.109375 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC034570 Asn168Ser N168S not reviewed Insufficiently evaluated not reviewed unknown Array rs9604529 41 128 0.320312 31 0 41 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR10G2 His228Asn H228N not reviewed Insufficiently evaluated not reviewed unknown Array 24 124 0.193548 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.444 - - 0 - 0 N - - AK125397 Thr5Pro T5P not reviewed Insufficiently evaluated not reviewed unknown Array rs61974571 3 128 0.0234375 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFHX2 Ser992Arg S992R not reviewed Insufficiently evaluated not reviewed unknown Array rs223124 32 128 0.25 21 0 25 0 0 - - - - - - - - - - - - - - - - 0.574 - - 3 - 0 N - - TTC6 Ala98Thr A98T not reviewed Insufficiently evaluated not reviewed unknown Array rs17768654 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - AHNAK2 Val2471Leu V2471L not reviewed Insufficiently evaluated not reviewed unknown Array 92 10258 0.00896861 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - IGHA2 Ala341Val A341V not reviewed Insufficiently evaluated not reviewed unknown Array 42 64 0.65625 14 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - IGHA2 Ala200Ser A200S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HERC2P3 Trp1126Arg W1126R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HERC2P3 Cys1123Tyr C1123Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 122 0.0655738 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR4N4 Leu198Met L198M not reviewed Insufficiently evaluated not reviewed unknown Array rs12441468 28 100 0.28 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.767 - - -3 - 0 N - - LRRC49 Gln354Del Q354Del not reviewed Insufficiently evaluated not reviewed unknown Array rs56720495 60 124 0.483871 24 0 24 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PPCDC Ala112Phe A112F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SCAPER Gln1165Glu Q1165E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - -2 - 1 N - - NM_024776 Ser1542Thr S1542T not reviewed Insufficiently evaluated not reviewed unknown Array rs1867780 2199 9796 0.224479 19 0 23 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - AK308609 Val120Met V120M not reviewed Insufficiently evaluated not reviewed unknown Array rs59521538 8 76 0.105263 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1199 Lys1360Del K1360Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TM6SF1 Leu48Trp L48W not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 1 N - - ACAN Ser1736Asn S1736N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAN Asp2215Glu D2215E not reviewed Insufficiently evaluated not reviewed unknown Array rs3817428 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KIF7 Gly492Arg G492R not reviewed Insufficiently evaluated not reviewed unknown Array rs12900805 54 106 0.509434 32 0 44 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF7 Glu116Lys E116K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIGQ Cys668His C668H not reviewed Insufficiently evaluated not reviewed unknown Array rs71391136 60 128 0.46875 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AK128777 Thr152Ile T152I not reviewed Insufficiently evaluated not reviewed unknown Array rs17139376 26 126 0.206349 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZNF598 Cys725Ser C725S not reviewed Insufficiently evaluated not reviewed unknown Array rs2286468 1555 8788 0.176946 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_018690 Pro428Ala P428A not reviewed Insufficiently evaluated not reviewed unknown Array rs180743 3970 10048 0.395104 30 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PDPR Asn661Lys N661K not reviewed Insufficiently evaluated not reviewed unknown Array rs62050978 21 70 0.3 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC160930 His38Tyr H38Y not reviewed Insufficiently evaluated not reviewed unknown Array rs67784077 40 58 0.689655 21 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR3A4 Ile29Thr I29T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734050 910 10758 0.0845882 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - OR3A4 Ile120Val I120V not reviewed Insufficiently evaluated not reviewed unknown Array rs9906179 2125 10758 0.197527 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - AMAC1L3 Trp326Gln W326Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7219992 61 92 0.663043 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ADORA2B Asn153Del N153Del not reviewed Insufficiently evaluated not reviewed unknown Array rs35103635 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_173624 Gln157Glu Q157E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10474 0.000572847 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001101393 Ala45Ser A45S not reviewed Insufficiently evaluated not reviewed unknown Array rs71377736 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AL833315 Leu94Arg L94R not reviewed Insufficiently evaluated not reviewed unknown Array rs2074182 41 118 0.347458 23 0 36 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TTYH2 Ala409Glu A409E not reviewed Insufficiently evaluated not reviewed unknown Array rs9892705 9 122 0.0737705 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - RNF213 Ala772Thr A772T not reviewed Insufficiently evaluated not reviewed unknown Array rs61359568 170 3234 0.0525665 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C17ORF62 Leu18Ser L18S not reviewed Insufficiently evaluated not reviewed unknown Array rs2306758 834 10758 0.0775237 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SETBP1 Val1047Ile V1047I not reviewed Insufficiently evaluated not reviewed unknown Array rs3744825 12 128 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ALPK2 Phe1389Del F1389Del not reviewed Insufficiently evaluated not reviewed unknown Array 12 128 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PIGN Ile469Leu I469L not reviewed Insufficiently evaluated not reviewed unknown Array rs3862712 816 9612 0.0848939 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C19ORF26 ThrThr11Del TT11Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK098244 Thr746Ile T746I not reviewed Insufficiently evaluated not reviewed unknown Array rs34090399 46 120 0.383333 25 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EMR4P Thr127Met T127M not reviewed Insufficiently evaluated not reviewed unknown Array rs2035970 15 128 0.117188 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001013640 Asp230Asn D230N not reviewed Insufficiently evaluated not reviewed unknown Array rs10403787 16 128 0.125 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - BC125186 Arg362Lys R362K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - AX746734 Thr87Ile T87I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DMKN Gly271Del G271Del not reviewed Insufficiently evaluated not reviewed unknown Array rs72334573 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_014727 Thr498Asn T498N not reviewed Insufficiently evaluated not reviewed unknown Array 309 9826 0.0314472 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG2 Ala213Val A213V not reviewed Insufficiently evaluated not reviewed unknown Array rs73033371 5 116 0.0431034 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - CYP2A7 Ala131Ser A131S not reviewed Insufficiently evaluated not reviewed unknown Array rs70950384 52 96 0.541667 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KCNA7 Pro443Del P443Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10535426 25 126 0.198413 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LILRB3 Arg465Leu R465L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734492 488 10758 0.0453616 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - LENG9 Gly468Glu G468E not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM161A Ile127Val I127V not reviewed Insufficiently evaluated not reviewed unknown Array rs17513722 15 128 0.117188 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ANKRD36B Arg471Pro R471P not reviewed Insufficiently evaluated not reviewed unknown Array rs2922568 36 64 0.5625 14 0 23 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RGPD4 Gln356Arg Q356R not reviewed Insufficiently evaluated not reviewed unknown Array rs832357 31 40 0.775 12 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TTN Pro17285Leu P17285L not reviewed Insufficiently evaluated not reviewed unknown Array rs16866406 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - NM_207482 Ser392Phe S392F not reviewed Insufficiently evaluated not reviewed unknown Array 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 1 N - - NM_207482 Lys431Ile K431I not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - BC118982 Glu225Lys E225K not reviewed Insufficiently evaluated not reviewed unknown Array rs35468542 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.082 - - 0 - 0 N - - AX746654 Leu92Arg L92R not reviewed Insufficiently evaluated not reviewed unknown Array rs910973 29 116 0.25 20 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C20ORF132 Ile131Val I131V not reviewed Insufficiently evaluated not reviewed unknown Array rs62621241 18 128 0.140625 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CR593014 Thr80Ile T80I not reviewed Insufficiently evaluated not reviewed unknown Array rs1000411 26 128 0.203125 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PPP4R1L Cys379Arg C379R not reviewed Insufficiently evaluated not reviewed unknown Array rs3746405 42 128 0.328125 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - LTN1 Gly565Cys G565C not reviewed Insufficiently evaluated not reviewed unknown Array rs34191159 20 128 0.15625 17 0 19 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LTN1 Ser527Gly S527G not reviewed Insufficiently evaluated not reviewed unknown Array rs61735768 15 128 0.117188 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C21ORF128 Cys108Arg C108R not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C21ORF105 Pro150Leu P150L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCM3AP-AS1 Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array rs2298694 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLTCL1 Ile1393Thr I1393T not reviewed Insufficiently evaluated not reviewed unknown Array rs1633399 12 128 0.09375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - USP41 Asp106Asn D106N not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC036909 Thr8Ser T8S not reviewed Insufficiently evaluated not reviewed unknown Array rs34383331 28 126 0.222222 23 0 24 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ASPHD2 Asn209Ser N209S not reviewed Insufficiently evaluated not reviewed unknown Array rs34902186 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC28 Glu695Lys E695K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - BAIAP2L2 IleAlaProSerGluTyrTrpAspGlyGlnSerArgSerArg441Del IAPSEYWDGQSRSR441Del not reviewed Insufficiently evaluated not reviewed unknown Array rs66500630 27 118 0.228814 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR594457 Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2D6 Ser304Leu S304L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2D6 AlaAsp300GlyAsn AD300GN not reviewed Insufficiently evaluated not reviewed unknown Array rs1058171 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTSE1 Ser322Asn S322N not reviewed Insufficiently evaluated not reviewed unknown Array rs6008622 22 126 0.174603 16 0 18 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - GTSE1 Asp463Glu D463E not reviewed Insufficiently evaluated not reviewed unknown Array rs6008684 21 128 0.164062 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.716 - - -2 - 0 N - - SBF1 Gly1512Ser G1512S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FYCO1 Asn1001Glu N1001E not reviewed Insufficiently evaluated not reviewed unknown Array rs71622515 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NCKIPSD Pro551Ser P551S not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - CCDC66 Glu718Val E718V not reviewed Insufficiently evaluated not reviewed unknown Array rs61747991 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CCDC66 Leu719Ser L719S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747994 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Thr779Ile T779I not reviewed Insufficiently evaluated not reviewed unknown Array rs6790146 55 110 0.5 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX746839 Arg52Cys R52C not reviewed Insufficiently evaluated not reviewed unknown Array rs2002762 33 128 0.257812 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AK057553 Leu70Val L70V not reviewed Insufficiently evaluated not reviewed unknown Array rs1996904 25 50 0.5 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C4ORF23 Ile176Val I176V not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK308144 Arg684Cys R684C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - BC157885 Glu105Ala E105A not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1211 Cys235Arg C235R not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HERC6 Met122Thr M122T not reviewed Insufficiently evaluated not reviewed unknown Array rs7677237 14 128 0.109375 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AL832378 Met126Leu M126L not reviewed Insufficiently evaluated not reviewed unknown Array rs4699384 34 128 0.265625 28 0 35 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AL832378 Gln19Arg Q19R not reviewed Insufficiently evaluated not reviewed unknown Array rs1491242 11 116 0.0948276 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK308309 Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array rs2728429 42 94 0.446809 22 0 35 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PABPC4L Arg152Gly R152G not reviewed Insufficiently evaluated not reviewed unknown Array 40 3234 0.0123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GYPA Glu24Gly E24G not reviewed Insufficiently evaluated not reviewed unknown Array rs7658293 11 52 0.211538 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TUBB4Q Gly431Glu G431E not reviewed Insufficiently evaluated not reviewed unknown Array rs2077107 29 118 0.245763 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OCLN Asn182Lys N182K not reviewed Insufficiently evaluated not reviewed unknown Array rs2666626 40 90 0.444444 17 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001080479 Ser544Leu S544L not reviewed Insufficiently evaluated not reviewed unknown Array rs2973571 2278 9538 0.238834 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DQ579214 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs34151840 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AB020632 Met515Ile M515I not reviewed Insufficiently evaluated not reviewed unknown Array rs29911 18 126 0.142857 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AX747550 Ala105Val A105V not reviewed Insufficiently evaluated not reviewed unknown Array rs72802752 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHB8 Val234Leu V234L not reviewed Insufficiently evaluated not reviewed unknown Array rs17844487 16 126 0.126984 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHGB8P Ile17Leu I17L not reviewed Insufficiently evaluated not reviewed unknown Array rs62378458 7 128 0.0546875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PCDHGB8P Arg30Gln R30Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62378459 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747985 Ala24Pro A24P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747985 Ser25Pro S25P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747985 Cys29Arg C29R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BTN2A1 Trp178Phe W178F not reviewed Insufficiently evaluated not reviewed unknown Array rs34505465 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC051362 Cys14Arg C14R not reviewed Insufficiently evaluated not reviewed unknown Array rs1611205 54 126 0.428571 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HLA-A Thr187Arg T187R not reviewed Insufficiently evaluated not reviewed unknown Array rs3129018 105 7496 0.0140075 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HCG27 Asn71Asp N71D not reviewed Insufficiently evaluated not reviewed unknown Array rs9263870 15 128 0.117188 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HLA-C ThrAlaMet329AlaValVal TAM329AVV not reviewed Insufficiently evaluated not reviewed unknown Array rs1130935 22 98 0.22449 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GPANK1 Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array rs35265780 103 10758 0.00957427 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.274 - - 2 - 1 N - - DQ569955 Arg22Cys R22C not reviewed Insufficiently evaluated not reviewed unknown Array rs3800338 15 128 0.117188 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TREML2 Ser203Gly S203G not reviewed Insufficiently evaluated not reviewed unknown Array rs3747742 41 128 0.320312 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NCRNA00120 Gly44Ser G44S not reviewed Insufficiently evaluated not reviewed unknown Array rs35171686 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MMS22L Val875Ala V875A not reviewed Insufficiently evaluated not reviewed unknown Array rs1737145 4934 10722 0.460175 37 0 44 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - AK094715 Val458Ala V458A not reviewed Insufficiently evaluated not reviewed unknown Array rs4142466 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - BC107113 Gly64Val G64V not reviewed Insufficiently evaluated not reviewed unknown Array rs78351760 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 1 N - - ENPP1 Arg834Thr R834T not reviewed Insufficiently evaluated not reviewed unknown Array rs8192683 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VNN3 Thr87Ile T87I not reviewed Insufficiently evaluated not reviewed unknown Array rs2294758 1441 4586 0.314217 22 0 29 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - VNN3 Phe57Ser F57S not reviewed Insufficiently evaluated not reviewed unknown Array rs2294759 1232 4586 0.268644 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NHSL1 Pro1082Ala P1082A not reviewed Insufficiently evaluated not reviewed unknown Array rs61747081 3 126 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747618 His97Arg H97R not reviewed Insufficiently evaluated not reviewed unknown Array 28 128 0.21875 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001099942 Lys3Arg K3R not reviewed Insufficiently evaluated not reviewed unknown Array rs7458315 9 128 0.0703125 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BC127664 His179Tyr H179Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62441980 20 124 0.16129 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF815 Gly46Ala G46A not reviewed Insufficiently evaluated not reviewed unknown Array rs2240405 17 128 0.132812 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DNAH11 Tyr2593His Y2593H not reviewed Insufficiently evaluated not reviewed unknown Array rs2003417 428 10646 0.0402029 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - TRGV5 Pro178Leu P178L not reviewed Insufficiently evaluated not reviewed unknown Array rs13227725 33 44 0.75 14 0 25 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCA13 Arg500His R500H not reviewed Insufficiently evaluated not reviewed unknown Array rs2361519 30 128 0.234375 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA13 Ile712Ser I712S not reviewed Insufficiently evaluated not reviewed unknown Array rs17712293 25 126 0.198413 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_005395 Arg23Trp R23W not reviewed Insufficiently evaluated not reviewed unknown Array rs794377 2890 10750 0.268837 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA1324L Thr624Met T624M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF62 Asp160Asn D160N not reviewed Insufficiently evaluated not reviewed unknown Array rs34781240 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF62 Asp48His D48H not reviewed Insufficiently evaluated not reviewed unknown Array rs2373396 1848 10758 0.171779 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ERVWE1 Thr244Ile T244I not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ERVWE1 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55903518 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - MUC3A Pro376Ser P376S not reviewed Insufficiently evaluated not reviewed unknown Array rs73163764 1441 4586 0.314217 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001085391 Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001089590 His178Arg H178R not reviewed Insufficiently evaluated not reviewed unknown Array rs10258155 43 128 0.335938 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR2F1 Arg170Thr R170T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRBA1 Pro774Leu P774L not reviewed Insufficiently evaluated not reviewed unknown Array rs73725583 586 9796 0.0598203 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC040865 Ala40Val A40V not reviewed Insufficiently evaluated not reviewed unknown Array rs62478243 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC040865 Arg48Gln R48Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13224758 400 3234 0.123686 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC040865 Thr61Met T61M not reviewed Insufficiently evaluated not reviewed unknown Array rs10257529 524 3234 0.162028 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AB209502 Asn963Ser N963S not reviewed Insufficiently evaluated not reviewed unknown Array rs28455997 9 128 0.0703125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C8ORF49 Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array rs809204 29 128 0.226562 19 0 23 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PSD3 Thr186Leu T186L not reviewed Insufficiently evaluated not reviewed unknown Array rs71519934 66 80 0.825 31 0 31 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX747135 Phe90Ser F90S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK309726 Ala3Thr A3T not reviewed Insufficiently evaluated not reviewed unknown Array rs17824282 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DEPTOR Asn148Ser N148S not reviewed Insufficiently evaluated not reviewed unknown Array rs34057546 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_207414 Ala375Val A375V not reviewed Insufficiently evaluated not reviewed unknown Array rs12547980 3610 10128 0.356438 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - EPPK1 Thr1482Ala T1482A not reviewed Insufficiently evaluated not reviewed unknown Array rs6558399 57 84 0.678571 24 0 37 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SPAG8 SerGlyProGly183Del SGPG183Del not reviewed Insufficiently evaluated not reviewed unknown Array rs28409023 23 104 0.221154 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GGTA1 Glu34Ala E34A not reviewed Insufficiently evaluated not reviewed unknown Array rs871670 33 122 0.270492 21 0 24 0 0 - - - - - - - - - - - - - - - - - - Y 3 - 1 N - - BC018860 Ser43Pro S43P not reviewed Insufficiently evaluated not reviewed unknown Array rs72543898 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AF391805 Leu79Pro L79P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC093994 Arg129Gly R129G not reviewed Insufficiently evaluated not reviewed unknown Array rs68177718 42 109 0.385321 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC093994 Asn153Ser N153S not reviewed Insufficiently evaluated not reviewed unknown Array rs67589284 42 109 0.385321 28 0 39 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC042039 Ile54Val I54V not reviewed Insufficiently evaluated not reviewed unknown Array rs2239834 33 92 0.358696 21 0 34 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CSAG1 Tyr28Leu Y28L not reviewed Insufficiently evaluated not reviewed unknown Array rs36103895 9 90 0.1 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_207107 Thr244Ala T244A not reviewed Insufficiently evaluated not reviewed unknown Array rs41311378 6 92 0.0652174 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIAA1751 Ala732Shift A732Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3838975 19 110 0.172727 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF200 Glu82Stop E82X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DEM1 Arg344Shift R344Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C1ORF173 Leu851Shift L851Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLMN Lys53Shift K53Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 2 N - - PAPPA2 Cys644Shift C644Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK026321 Pro73Shift P73Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEC61A2 Lys395Shift K395Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs41423850 36 128 0.28125 10 0 15 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - AX747192 Asn149Shift N149Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11311686 35 62 0.564516 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSGA10IP Arg302Stop R302X not reviewed Insufficiently evaluated not reviewed unknown Array 20 10242 0.00195274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs9344 4139 10758 0.384737 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs72523179 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - SRPR Val29Shift V29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT2 Ser101GlyPheGlyGlyGlySerGly S101GFGGGSG not reviewed Insufficiently evaluated not reviewed unknown Array rs56850150 25 128 0.195312 12 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - HELB Glu522Shift E522Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NYNRIN Gly1206Shift G1206Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZFYVE26 Val1645Gly V1645G not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 8 Y 1 N - - BC042092 His29Shift H29Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72546313 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF598 Gln551Shift Q551Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRSS21 Tyr211Shift Y211Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKAP10 Phe393Shift F393Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT28 Tyr125Shift Y125Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDC27 Lys169Stop K169X not reviewed Insufficiently evaluated not reviewed unknown Array 47 78 0.602564 33 0 33 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - LPIN2 Asp885Leu D885L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ADNP2 Ile1073Shift I1073Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JSRP1 Asp313Shift D313Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UNC13A Ala53Shift A53Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF681 Cys203Shift C203Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61397759 16 128 0.125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX746649 Trp43Stop W43X not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TEKT4 Ser33Shift S33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 14 78 0.179487 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTN Ile32963Thr I32963T not reviewed Insufficiently evaluated not reviewed unknown Array rs55880440 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PMS1 Tyr90Shift Y90Shift benign Low clinical importance, Uncertain benign unknown Array 1 128 0.0078125 1 0 1 2 2 ! Y 1 Y 0 Y - - - - - - - - - - - - - 4 Y 2 N 0 0 This variant is tentatively evaluated as benign, as the only publications linking mutations in this gene to disease have been contradicted. PRR21 Pro13Shift P13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C20ORF186 Arg99Stop R99X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL18A1 ProGlyPro1127Del PGP1127Del not reviewed Insufficiently evaluated not reviewed unknown Array 51 66 0.772727 16 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - SMTN Pro205Shift P205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRIP2 Arg78Shift R78Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCR8 Tyr280Shift Y280Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF717 Glu504Shift E504Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC41A3 Leu501Shift L501Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71716416 1 128 0.0078125 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001040071 Tyr183Stop Y183X not reviewed Insufficiently evaluated not reviewed unknown Array rs9759877 20 88 0.227273 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CC2D2A Glu229Del E229Del not reviewed Insufficiently evaluated not reviewed unknown Array rs112367037 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SPATA4 Arg279Shift R279Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC1A3 Thr66Shift T66Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3216728 40 128 0.3125 26 0 37 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - HEATR7B2 Ala1427Shift A1427Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGGF1 Asp589Shift D589Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CMYA5 Asn164Shift N164Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC112077 Cys108Shift C108Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11558488 17 128 0.132812 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSORS1C2 Pro94Shift P94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PSORS1C1 Arg37Shift R37Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs9263726 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MICA Gly318Shift G318Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67841474 16 98 0.163265 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH8 Ile1531Shift I1531Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMA2 Arg2784Cys R2784C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ORC5 His344Shift H344Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AF035281 Ser47Shift S47Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_207414 Ala851Shift A851Shift not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX721189 Arg11Stop R11X not reviewed Insufficiently evaluated not reviewed unknown Array rs11140223 32 128 0.25 21 0 30 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - OR13C5 His309Shift H309Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11314210 47 122 0.385246 25 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR13C2 Asn171Shift N171Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60058604 19 88 0.215909 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR13C2 Leu82Shift L82Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35762823 44 116 0.37931 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR112 Leu33Shift L33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM58A Glu212Gly E212G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - NM_001127577 Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array rs4648831 11 128 0.0859375 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MMEL1 Gly603Arg G603R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO44 Glu59Lys E59K not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF167 Ser123Gly S123G not reviewed Insufficiently evaluated not reviewed unknown Array rs56001051 5 112 0.0446429 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF167 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs55967531 4 96 0.0416667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF167 Arg207Trp R207W not reviewed Insufficiently evaluated not reviewed unknown Array rs12561919 6 128 0.046875 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF167 Arg492His R492H not reviewed Insufficiently evaluated not reviewed unknown Array rs3737967 5 126 0.0396825 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF167 Cys572Ser C572S not reviewed Insufficiently evaluated not reviewed unknown Array rs1537514 6 128 0.046875 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKR7L Phe144Val F144V not reviewed Insufficiently evaluated not reviewed unknown Array rs2982534 3 110 0.0272727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC5A9 Val170Met V170M not reviewed Insufficiently evaluated not reviewed unknown Array rs212989 28 128 0.21875 20 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HRNR Phe669Ser F669S not reviewed Insufficiently evaluated not reviewed unknown Array 10 124 0.0806452 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CFHR4 Gly553Glu G553E not reviewed Insufficiently evaluated not reviewed unknown Array rs10494745 801 10754 0.0744839 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MARCH8 Phe277Leu F277L not reviewed Insufficiently evaluated not reviewed unknown Array rs2291428 21 116 0.181034 14 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MRGPRX3 Trp307Gln W307Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NR_023920 Ala13Thr A13T not reviewed Insufficiently evaluated not reviewed unknown Array rs6508 34 128 0.265625 23 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TRIM48 Gln7Pro Q7P not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - ANO1 Gly957Arg G957R not reviewed Insufficiently evaluated not reviewed unknown Array rs3740722 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DDX10 Asp788Del D788Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 72 0.0277778 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCAM1 Phe5Leu F5L not reviewed Insufficiently evaluated not reviewed unknown Array rs7105734 68 68 1 27 0 54 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC036197 Ser21Pro S21P not reviewed Insufficiently evaluated not reviewed unknown Array rs11220099 24 120 0.2 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PATE4 Cys87Gly C87G not reviewed Insufficiently evaluated not reviewed unknown Array rs12224646 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PLCZ1 Asp202Gly D202G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - AL831921 Ser10Arg S10R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AL831921 Thr346Ser T346S not reviewed Insufficiently evaluated not reviewed unknown Array rs12426596 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK057244 Leu303Pro L303P not reviewed Insufficiently evaluated not reviewed unknown Array rs11618506 21 128 0.164062 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK057244 Ser174Thr S174T not reviewed Insufficiently evaluated not reviewed unknown Array rs17066954 25 128 0.195312 19 0 21 0 0 - - - - - - - - - - - - - - - - 0.195 - - -2 - 0 N - - ADAM21P1 Asp49Del D49Del not reviewed Insufficiently evaluated not reviewed unknown Array rs72159324 14 120 0.116667 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AHNAK2 Val3083Ile V3083I not reviewed Insufficiently evaluated not reviewed unknown Array rs12433837 2445 9450 0.25873 30 0 30 0 0 - - - - - - - - - - - - - - - - 0.445 - - -4 - 0 N - - IGHA2 Glu302Asp E302D not reviewed Insufficiently evaluated not reviewed unknown Array rs11628783 69 82 0.841463 25 0 49 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC004103 Ala44Val A44V not reviewed Insufficiently evaluated not reviewed unknown Array 10 126 0.0793651 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BNIP2 Pro88Leu P88L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - MCTP2 Ile825Leu I825L not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - -2 - 1 N - - AX748261 Pro15Leu P15L not reviewed Insufficiently evaluated not reviewed unknown Array rs72768734 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLX4 Ala952Met A952M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSP90B2P Ser259Leu S259L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753377 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC148245 Pro105Ser P105S not reviewed Insufficiently evaluated not reviewed unknown Array rs75777873 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR597135 Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array rs4985167 27 114 0.236842 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_014711 Gln512Arg Q512R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - NM_018690 Glu844Lys E844K not reviewed Insufficiently evaluated not reviewed unknown Array rs34395441 353 9938 0.0355202 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MT1IP Ala45Glu A45E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM38A Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array rs35265318 7 120 0.0583333 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR1D4 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2258425 32 66 0.484848 15 0 29 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYH1 AlaGlu1016AspLys AE1016DK not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MEIS3P1 Ala235Gly A235G not reviewed Insufficiently evaluated not reviewed unknown Array rs4791638 22 124 0.177419 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - MYO15A Glu1431Lys E1431K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FAM106A Arg40Pro R40P not reviewed Insufficiently evaluated not reviewed unknown Array rs596399 23 88 0.261364 11 0 18 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ATAD5 MetSer287Del MS287Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60663953 19 128 0.148438 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HILS1 Arg46Lys R46K not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MYCBPAP Glu191Asp E191D not reviewed Insufficiently evaluated not reviewed unknown Array rs8064455 38 128 0.296875 26 0 37 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - C17ORF52 Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs13342029 35 128 0.273438 23 0 29 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RNF213 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs17857135 2487 10634 0.233872 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RNF213 Met52Thr M52T not reviewed Insufficiently evaluated not reviewed unknown Array rs17853989 2842 10758 0.264176 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BAHCC1 Arg2443His R2443H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10472 0.00038197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOXHD1 Arg812Gln R812Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - NM_024888 Ile193Thr I193T not reviewed Insufficiently evaluated not reviewed unknown Array rs1540615 465 10752 0.0432478 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - REXO1 Glu642Del E642Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3217458 27 124 0.217742 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TDRD12 Ala818Thr A818T not reviewed Insufficiently evaluated not reviewed unknown Array rs35110475 20 128 0.15625 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RHPN2 Leu43Lys L43K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - U2AF1L4 Met72Val M72V not reviewed Insufficiently evaluated not reviewed unknown Array rs17638853 11 128 0.0859375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF780A Ser223Phe S223F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF283 Cys638His C638H not reviewed Insufficiently evaluated not reviewed unknown Array rs2356437 45 126 0.357143 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC043532 Asn39Ser N39S not reviewed Insufficiently evaluated not reviewed unknown Array rs8104425 34 128 0.265625 29 0 35 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB290165 Asn1942Ser N1942S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEKT4 Arg282Gly R282G not reviewed Insufficiently evaluated not reviewed unknown Array 27 56 0.482143 23 0 23 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - NR_002826 Ser356Asn S356N not reviewed Insufficiently evaluated not reviewed unknown Array rs71345556 33 100 0.33 19 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_002826 His283Gln H283Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4081121 17 82 0.207317 8 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NR_002826 Phe278Val F278V not reviewed Insufficiently evaluated not reviewed unknown Array rs10187768 17 94 0.180851 8 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NR_002826 Arg47Thr R47T not reviewed Insufficiently evaluated not reviewed unknown Array rs1806887 37 114 0.324561 20 0 28 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UBR3 Leu363Ile L363I not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AX746654 Leu141Pro L141P not reviewed Insufficiently evaluated not reviewed unknown Array rs7351709 27 124 0.217742 18 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PAX1 Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GDF5OS Leu166Met L166M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GDF5OS Leu203Phe L203F not reviewed Insufficiently evaluated not reviewed unknown Array rs224330 1119 10750 0.104093 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FER1L4 Thr282Ala T282A not reviewed Insufficiently evaluated not reviewed unknown Array rs8120157 18 126 0.142857 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FER1L4 Val102Ile V102I not reviewed Insufficiently evaluated not reviewed unknown Array rs2145021 18 128 0.140625 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FER1L4 His326Arg H326R not reviewed Insufficiently evaluated not reviewed unknown Array rs55804447 16 128 0.125 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AX746683 Gln22Glu Q22E not reviewed Insufficiently evaluated not reviewed unknown Array rs911128 6 124 0.0483871 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001037335 Gln2049Glu Q2049E not reviewed Insufficiently evaluated not reviewed unknown Array rs3810483 4220 10646 0.396393 35 0 48 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - LTN1 Val761Ile V761I not reviewed Insufficiently evaluated not reviewed unknown Array rs34635840 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C21ORF128 Ser72Leu S72L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP10-10 Glu28Ala E28A not reviewed Insufficiently evaluated not reviewed unknown Array 772 10756 0.0717739 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 1 N - - CLTCL1 Leu1503Val L1503V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGT5 LysGly330ArgArg KG330RR not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTLL12 Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array rs138933 28 128 0.21875 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRR5-ARHGAP8 Pro420Leu P420L not reviewed Insufficiently evaluated not reviewed unknown Array rs2071762 22 128 0.171875 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRR5-ARHGAP8 Pro423Arg P423R not reviewed Insufficiently evaluated not reviewed unknown Array rs9614957 9 128 0.0703125 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CU013372 Pro105Ser P105S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF31 Pro40Ser P40S not reviewed Insufficiently evaluated not reviewed unknown Array rs408600 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CELSR3 Arg3100Gln R3100Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC146674 Thr291Met T291M not reviewed Insufficiently evaluated not reviewed unknown Array rs73079003 8 122 0.0655738 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.153 - - 2 - 0 N - - CCDC66 Glu475Lys E475K not reviewed Insufficiently evaluated not reviewed unknown Array rs4681904 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF49 Thr84Ala T84A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747367 Pro64Thr P64T not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF717 ArgCys843SerTyr RC843SY not reviewed Insufficiently evaluated not reviewed unknown Array 13 96 0.135417 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF717 Glu759Lys E759K not reviewed Insufficiently evaluated not reviewed unknown Array 8 108 0.0740741 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF717 Thr753Asn T753N not reviewed Insufficiently evaluated not reviewed unknown Array 4 110 0.0363636 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001123328 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34438388 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOPBP1 Arg222Cys R222C not reviewed Insufficiently evaluated not reviewed unknown Array rs55633281 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF26 Leu60Ser L60S not reviewed Insufficiently evaluated not reviewed unknown Array rs59508481 64 106 0.603774 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX746839 Asp110Glu D110E not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC4 Ala3353Leu A3353L not reviewed Insufficiently evaluated not reviewed unknown Array 3 36 0.0833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PSAPL1 Ala373Glu A373E not reviewed Insufficiently evaluated not reviewed unknown Array rs61738677 9 128 0.0703125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX746755 Arg32His R32H not reviewed Insufficiently evaluated not reviewed unknown Array rs61620804 11 128 0.0859375 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001040071 Leu181Phe L181F not reviewed Insufficiently evaluated not reviewed unknown Array rs9762741 20 90 0.222222 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC035074 Ser443Asn S443N not reviewed Insufficiently evaluated not reviewed unknown Array rs4235380 33 126 0.261905 23 0 27 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK308144 Gly366Ser G366S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741460 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - BC157885 Arg552Cys R552C not reviewed Insufficiently evaluated not reviewed unknown Array rs12507599 32 128 0.25 20 0 21 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC157885 Arg662His R662H not reviewed Insufficiently evaluated not reviewed unknown Array rs9654132 23 126 0.18254 22 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SHROOM3 Arg351Gln R351Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ALPK1 Arg1084Gln R1084Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34677416 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - DCLK2 Pro748Cys P748C not reviewed Insufficiently evaluated not reviewed unknown Array rs13152819 81 86 0.94186 35 0 35 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CR626610 Arg115Trp R115W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF44 Ser47Thr S47T not reviewed Insufficiently evaluated not reviewed unknown Array rs17830337 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRDM6 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array rs1008058 18 128 0.140625 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AFF4 Tyr913Ile Y913I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WWC1 Glu865Del E865Del not reviewed Insufficiently evaluated not reviewed unknown Array rs34706706 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GMCL1L Pro521Gln P521Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72648831 20 126 0.15873 19 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX747985 Glu12Gly E12G not reviewed Insufficiently evaluated not reviewed unknown Array rs28413987 64 86 0.744186 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX747985 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array rs71596435 17 88 0.193182 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BTNL8 His311Glu H311E not reviewed Insufficiently evaluated not reviewed unknown Array rs77534051 35 116 0.301724 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001101396 His64Asp H64D not reviewed Insufficiently evaluated not reviewed unknown Array rs10057725 25 116 0.215517 16 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_032030 Val16Ile V16I not reviewed Insufficiently evaluated not reviewed unknown Array rs61746402 293 9770 0.0299898 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_032030 Leu18His L18H not reviewed Insufficiently evaluated not reviewed unknown Array rs61743950 293 9778 0.0299652 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_032030 Leu29Gln L29Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743942 290 9774 0.0296706 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZFP57 Arg293Gly R293G not reviewed Insufficiently evaluated not reviewed unknown Array rs61730327 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HLA-A Gln86Gly Q86G not reviewed Insufficiently evaluated not reviewed unknown Array rs1059455 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NCRNA00243 Ser51Gly S51G not reviewed Insufficiently evaluated not reviewed unknown Array rs2394414 12 126 0.0952381 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NCRNA00243 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array rs9295924 30 124 0.241935 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCC10 Ala1087Ser A1087S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - -1 - 0 N - - KIAA1009 Glu379Del E379Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK124171 Pro335Ser P335S not reviewed Insufficiently evaluated not reviewed unknown Array rs10499052 21 128 0.164062 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC067868 Gly66Ser G66S not reviewed Insufficiently evaluated not reviewed unknown Array rs2273818 21 114 0.184211 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK289375 Gly68Val G68V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC127664 Trp65Arg W65R not reviewed Insufficiently evaluated not reviewed unknown Array rs112252777 44 126 0.349206 31 0 39 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK027618 Cys309Tyr C309Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35171886 17 128 0.132812 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK027618 Gly268Arg G268R not reviewed Insufficiently evaluated not reviewed unknown Array 16 122 0.131148 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - DNAH11 Lys4508Arg K4508R not reviewed Insufficiently evaluated not reviewed unknown Array 710 9868 0.0719497 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 1 N - - AOAH Ala23Asp A23D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - ABCA13 Glu744Lys E744K not reviewed Insufficiently evaluated not reviewed unknown Array rs17547816 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA3A Val435Ile V435I not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.784 - - -4 - 1 N - - ERVWE1 AlaLeu332GlyStop AL332GX not reviewed Insufficiently evaluated not reviewed unknown Array 8 90 0.0888889 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 0 N - - MUC3A Ser157Ala S157A not reviewed Insufficiently evaluated not reviewed unknown Array rs76249962 15 92 0.163043 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC3A Ser296Ile S296I not reviewed Insufficiently evaluated not reviewed unknown Array 15 86 0.174419 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC3A Arg393Pro R393P not reviewed Insufficiently evaluated not reviewed unknown Array rs74529310 823 4586 0.179459 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC17 Thr1262Ser T1262S not reviewed Insufficiently evaluated not reviewed unknown Array rs73168389 701 10758 0.0651608 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK097289 Val92Ile V92I not reviewed Insufficiently evaluated not reviewed unknown Array rs12155311 10 128 0.078125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - EEF1G Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1549 Gln1148Arg Q1148R not reviewed Insufficiently evaluated not reviewed unknown Array 120 10146 0.0118273 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001126313 Arg35Gln R35Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2108673 60 128 0.46875 33 0 53 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001080826 Ala1111Thr A1111T not reviewed Insufficiently evaluated not reviewed unknown Array rs12549973 2280 10268 0.222049 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001080826 Ser313Arg S313R not reviewed Insufficiently evaluated not reviewed unknown Array rs35273161 125 9704 0.0128813 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - NM_207414 Val531Met V531M not reviewed Insufficiently evaluated not reviewed unknown Array 48 9898 0.00484946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK128180 Asp200Glu D200E not reviewed Insufficiently evaluated not reviewed unknown Array rs524512 37 78 0.474359 24 0 36 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_182635 Arg98Lys R98K not reviewed Insufficiently evaluated not reviewed unknown Array rs13295305 13 128 0.101562 8 0 11 0 0 - - - - - - - - - - - - - - - - 0.625 - - -3 - 0 N - - CR612236 Met96Ile M96I not reviewed Insufficiently evaluated not reviewed unknown Array rs2148537 29 128 0.226562 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ASTN2 Glu342Lys E342K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABO Arg198Cys R198C not reviewed Insufficiently evaluated not reviewed unknown Array rs8176739 189 10588 0.0178504 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C9ORF86 Lys672Del K672Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC018860 Thr34Ala T34A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AF391805 Arg137Gly R137G not reviewed Insufficiently evaluated not reviewed unknown Array rs28357369 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR591764 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs5959051 32 92 0.347826 26 0 44 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CR591764 Ser205Tyr S205Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61744953 5 92 0.0543478 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TAF7L GluAsp353Del ED353Del not reviewed Insufficiently evaluated not reviewed unknown Array 8 91 0.0879121 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR50 ThrThrGlyHis502Del TTGH502Del not reviewed Insufficiently evaluated not reviewed unknown Array 41 87 0.471264 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF275 ThrSerVal64Del TSV64Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3047915 69 92 0.75 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FAM58A Thr208Ala T208A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SPRY3 Glu179Ala E179A not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - CRABP2 Gly105Shift G105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMO4 Val113Shift V113Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs28369860 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2T4 Met150Shift M150Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61248663 12 118 0.101695 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WNT8B Leu265Shift L265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM45B Arg151Stop R151X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK160367 Val377Shift V377Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs111769579 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POLD3 Ala288Shift A288Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SRSF8 Arg171Shift R171Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5793709 43 72 0.597222 11 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C12ORF60 Met184Shift M184Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10556010 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITGA5 Arg894Shift R894Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NCKAP1L Leu531Shift L531Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CTDSP2 Ala185Shift A185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRIG3 Ala258Shift A258Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LLPH Met75Shift M75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK126817 Phe74Shift F74Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs36109874 23 46 0.5 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MDP1 Leu165Shift L165Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11332495 25 128 0.195312 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRP54 Met351Shift M351Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs66615803 46 126 0.365079 23 0 23 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - BX649021 Gln198Shift Q198Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 112 0.0535714 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC159 Arg17Shift R17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 15 128 0.117188 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NFIX Gly417Shift G417Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP2F1 Thr6Shift T6Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3833221 39 128 0.304688 26 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TULP2 Leu94Shift L94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZC3H8 Lys287Shift K287Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746496 Arg131Shift R131Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59442386 26 128 0.203125 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCRN3 Asn417Shift N417Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71024805 29 126 0.230159 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ATIC Phe265Shift F265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EPHA4 Glu529Shift E529Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MORC2 Phe766Shift F766Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IFT27 Leu173Shift L173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF717 Asn673Shift N673Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 104 0.0673077 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 Ser576Shift S576Shift not reviewed Insufficiently evaluated not reviewed unknown Array 9 46 0.195652 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSMD2 Lys631Shift K631Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSP90AB3P Met93Shift M93Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34377161 22 128 0.171875 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DCHS2 Val2007Shift V2007Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH5 Gln1464Shift Q1464Shift pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 3 Y - - 0 Y - - 3 - 3 Y Y - - - - Y Y 4 Y 4 N 1 0 Severe recessive variant, predicted to cause primary ciliary dyskinesia and Kartagener Syndrome (situs inversus, chronic sinusitis, and bronchiectasis) if homozygous or compound heterozygous with another severe variant. ERAP2 Asn501Shift N501Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM173 Glu304Shift E304Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2V2 Cys107Shift C107Shift not reviewed Insufficiently evaluated not reviewed unknown Array 13 128 0.101562 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-H Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array rs2428512 20 96 0.208333 13 0 14 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - GPANK1 Tyr44Shift Y44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC104461 Leu92Shift L92Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59509731 20 124 0.16129 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC104461 Ser110Shift S110Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72082963 26 128 0.203125 23 0 25 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK027618 Lys532Shift K532Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11454536 18 128 0.140625 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EGFR Ile715Shift I715Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - STAG3L3 Glu82Shift E82Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 38 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PTPRZ1 Ser913Shift S913Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EEF1G Pro265Shift P265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM9 Val543Shift V543Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AP3M2 Pro252Shift P252Shift not reviewed Insufficiently evaluated not reviewed unknown Array 12 124 0.0967742 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK094577 Cys82Shift C82Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 122 0.0409836 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK128833 Gln209Arg Q209R not reviewed Insufficiently evaluated not reviewed unknown Array rs61514045 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK128833 Ser204Phe S204F not reviewed Insufficiently evaluated not reviewed unknown Array rs56676866 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK128833 Pro10Ala P10A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS1R3 Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - NM_001127577 Ala137Pro A137P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD8 Glu6Arg E6R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRRC2C Pro935Ala P935A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EDEM3 Ile777Ser I777S not reviewed Insufficiently evaluated not reviewed unknown Array rs9425343 34 128 0.265625 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TPR MetLys1263IleGlu MK1263IE not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2T4 Val137Leu V137L not reviewed Insufficiently evaluated not reviewed unknown Array rs115755289 18 128 0.140625 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HNRNPA3P1 His226Arg H226R not reviewed Insufficiently evaluated not reviewed unknown Array rs1998748 10 124 0.0806452 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HNRNPA3P1 Arg216Gly R216G not reviewed Insufficiently evaluated not reviewed unknown Array rs1998749 12 126 0.0952381 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HNRNPA3P1 Ala201Gly A201G not reviewed Insufficiently evaluated not reviewed unknown Array rs73270381 4 128 0.03125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC6 Pro448ProProPro P448PPP not reviewed Insufficiently evaluated not reviewed unknown Array rs1053265 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BX647301 Leu288Pro L288P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DMBT1 Ser1102Thr S1102T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.445 - - -2 - 1 N - - BC068088 Arg90Ser R90S not reviewed Insufficiently evaluated not reviewed unknown Array rs11517718 26 128 0.203125 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NUCB2 Gln403Del Q403Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3842269 9 102 0.0882353 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC136797 His317Arg H317R not reviewed Insufficiently evaluated not reviewed unknown Array rs12791318 27 128 0.210938 17 0 21 0 0 - - - - - - - - - - - - - - - - 0.839 - - 1 - 0 N - - OR4C3 Asn157Cys N157C not reviewed Insufficiently evaluated not reviewed unknown Array 15 112 0.133929 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR4C3 ThrTyr217MetHis TY217MH not reviewed Insufficiently evaluated not reviewed unknown Array rs10838874 29 102 0.284314 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR4C45 Phe62Ser F62S not reviewed Insufficiently evaluated not reviewed unknown Array 5 108 0.0462963 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4C45 Ser56Leu S56L not reviewed Insufficiently evaluated not reviewed unknown Array 8 96 0.0833333 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CFL1 Trp10Leu W10L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF82 ArgLeu397LysPhe RL397KF not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CWF19L2 Tyr740Cys Y740C not reviewed Insufficiently evaluated not reviewed unknown Array rs3758911 30 128 0.234375 18 0 22 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TAS2R43 Phe36Val F36V not reviewed Insufficiently evaluated not reviewed unknown Array 208 8928 0.0232975 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R43 Ile33Thr I33T not reviewed Insufficiently evaluated not reviewed unknown Array 216 8660 0.0249423 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FIGNL2 Ser23Del S23Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC39A5 Gly455Ala G455A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 1 - 2 N - - BC039467 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array rs2293624 17 128 0.132812 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.212 - - 8 Y 0 N - - SELPLG SerMet263PheVal SM263FV not reviewed Insufficiently evaluated not reviewed unknown Array rs7300972 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DQ866763 Thr246Ala T246A not reviewed Insufficiently evaluated not reviewed unknown Array rs74118425 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DQ866763 Pro228Ser P228S not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQ866763 His67Gln H67Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DQ866763 His26Arg H26R not reviewed Insufficiently evaluated not reviewed unknown Array rs72488204 15 74 0.202703 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC153822 Arg194Gln R194Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Trp4001Gln W4001Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2792205 10 128 0.078125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SERPINA13 Gln322His Q322H not reviewed Insufficiently evaluated not reviewed unknown Array rs1884084 4229 10758 0.393103 20 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AHNAK2 Lys2170Arg K2170R not reviewed Insufficiently evaluated not reviewed unknown Array 903 9662 0.0934589 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - CHAC1 Met186Leu M186L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCAPER Phe1246Ser F1246S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - AL357213 Arg111Cys R111C not reviewed Insufficiently evaluated not reviewed unknown Array rs11073619 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SYNM Arg354Trp R354W not reviewed Insufficiently evaluated not reviewed unknown Array rs3743242 850 9714 0.0875026 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CRAMP1L Gly335Glu G335E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BX537921 Thr52Met T52M not reviewed Insufficiently evaluated not reviewed unknown Array rs55721435 2 128 0.015625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC012355 Thr106Ser T106S not reviewed Insufficiently evaluated not reviewed unknown Array rs642454 8 120 0.0666667 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK055272 Ala144Val A144V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XAF1 Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2271232 17 128 0.132812 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - BC050323 Thr541Met T541M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ULK2 Pro702Phe P702F not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDC27 AsnSerCys182LysCysCysAla NSC182KCCA not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AL833315 Gly450Val G450V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 8 Y 0 N - - C17ORF58 Arg82Pro R82P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SDK2 Thr150Asn T150N not reviewed Insufficiently evaluated not reviewed unknown Array rs1105353 9 128 0.0703125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AL832652 Asp227Asn D227N not reviewed Insufficiently evaluated not reviewed unknown Array rs74335865 224 10758 0.0208217 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK057217 Thr438Met T438M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF213 Asp1117Asn D1117N not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF213 Ile1969Thr I1969T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THOC4 Met200Thr M200T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 2 N - - BX649021 Ser192Leu S192L not reviewed Insufficiently evaluated not reviewed unknown Array 18 100 0.18 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BX649021 Gln213Glu Q213E not reviewed Insufficiently evaluated not reviewed unknown Array rs11873244 15 96 0.15625 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - DSG1 LysAsp537ArgAsn KD537RN not reviewed Insufficiently evaluated not reviewed unknown Array rs61730306 19 124 0.153226 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NOL4 ThrLeu270Del TL270Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PIGN Ile745Met I745M not reviewed Insufficiently evaluated not reviewed unknown Array 21 9472 0.00221706 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC159 Arg17His R17H not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UNC13A Ala1220Ser A1220S not reviewed Insufficiently evaluated not reviewed unknown Array 657 10508 0.0625238 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1683 Asp406Gly D406G not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TDRD12 Thr748Met T748M not reviewed Insufficiently evaluated not reviewed unknown Array rs11673502 11 126 0.0873016 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 1 N - - TDRD12 Gln1117Leu Q1117L not reviewed Insufficiently evaluated not reviewed unknown Array rs12151363 11 128 0.0859375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BC007817 Arg3Trp R3W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746660 Ser22Arg S22R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR601007 Leu146Pro L146P not reviewed Insufficiently evaluated not reviewed unknown Array rs17885410 263 10758 0.0244469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHG2 Ile580Val I580V not reviewed Insufficiently evaluated not reviewed unknown Array rs16973407 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FCGBP AspLys3847GluGlu DK3847EE not reviewed Insufficiently evaluated not reviewed unknown Array rs2542319 36 62 0.580645 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_004401 Val9Ile V9I not reviewed Insufficiently evaluated not reviewed unknown Array rs3826838 25 128 0.195312 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF841 Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array rs16983412 26 128 0.203125 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF525 Val172Ala V172A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL18RAP Leu428Lys L428K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_002826 Ser38Ile S38I not reviewed Insufficiently evaluated not reviewed unknown Array rs2007096 35 116 0.301724 19 0 26 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AX746496 Ala129Pro A129P not reviewed Insufficiently evaluated not reviewed unknown Array rs59539470 28 128 0.21875 20 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - XIRP2 Glu1377Del E1377Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC042133 Pro271Leu P271L not reviewed Insufficiently evaluated not reviewed unknown Array rs2270856 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC132948 Ser59Arg S59R not reviewed Insufficiently evaluated not reviewed unknown Array rs11683242 487 3234 0.150588 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C20ORF132 Thr933Ser T933S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C20ORF132 Thr585Ala T585A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TP53TG5 Asn97Del N97Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10546815 58 128 0.453125 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_080622 Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PI4KAP2 Gly201Glu G201E not reviewed Insufficiently evaluated not reviewed unknown Array rs377287 64 64 1 25 0 50 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX747284 Pro148Ser P148S not reviewed Insufficiently evaluated not reviewed unknown Array rs8141793 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC28 Ala2065Gly A2065G not reviewed Insufficiently evaluated not reviewed unknown Array rs41278845 5 126 0.0396825 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2D7P1 His262Arg H262R not reviewed Insufficiently evaluated not reviewed unknown Array rs28367005 7 128 0.0546875 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001012986 Glu101Lys E101K not reviewed Insufficiently evaluated not reviewed unknown Array rs11912131 803 9956 0.0806549 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SYN2 Thr502Ala T502A not reviewed Insufficiently evaluated not reviewed unknown Array rs794999 6780 9540 0.710692 41 0 65 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYD88 Ser206Cys S206C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - CSRNP1 Thr264Pro T264P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - 4 Y 1 N - - RNF123 Leu616Pro L616P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 7 Y 1 N - - RPL29 AlaLys129Del AK129Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 108 0.0648148 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC66 ArgArg343GlnStop RR343QX not reviewed Insufficiently evaluated not reviewed unknown Array rs7637449 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - C3ORF49 Gln253His Q253H not reviewed Insufficiently evaluated not reviewed unknown Array rs2291533 16 128 0.125 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK057553 Gly216Glu G216E not reviewed Insufficiently evaluated not reviewed unknown Array rs11853 9 48 0.1875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AK057553 His218Arg H218R not reviewed Insufficiently evaluated not reviewed unknown Array 6 106 0.0566038 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OTOP1 Met312Thr M312T not reviewed Insufficiently evaluated not reviewed unknown Array 9 80 0.1125 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AK308144 Glu887Gln E887Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742285 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - KIAA1211 Met778Ser M778S not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR591456 Lys263Gln K263Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3733251 21 128 0.164062 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.834 - - -2 - 0 N - - HSP90AB3P Cys437Phe C437F not reviewed Insufficiently evaluated not reviewed unknown Array rs55724168 18 128 0.140625 14 0 14 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 1 N - - AP3B1 Lys804Del K804Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - PCDHB7 ProLeu575LeuVal PL575LV not reviewed Insufficiently evaluated not reviewed unknown Array rs13189280 2 80 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHB13 AlaPro448GluThr AP448ET not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GMCL1L Ser55Asn S55N not reviewed Insufficiently evaluated not reviewed unknown Array rs3812086 16 118 0.135593 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GMCL1L Ser40Gly S40G not reviewed Insufficiently evaluated not reviewed unknown Array rs2913783 49 90 0.544444 28 0 41 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DPCR1 Gly55Arg G55R not reviewed Insufficiently evaluated not reviewed unknown Array rs11970154 25 126 0.198413 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ABCC10 Asp208Glu D208E not reviewed Insufficiently evaluated not reviewed unknown Array rs45535935 236 10756 0.0219412 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - BC032958 Thr13Ala T13A not reviewed Insufficiently evaluated not reviewed unknown Array rs62424063 9 128 0.0703125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC104461 Gly20Ser G20S not reviewed Insufficiently evaluated not reviewed unknown Array rs9321669 31 128 0.242188 25 0 27 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC104461 Arg179Trp R179W not reviewed Insufficiently evaluated not reviewed unknown Array rs9399250 21 128 0.164062 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C6ORF35 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9528 0.00104954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF35 Thr3Ile T3I not reviewed Insufficiently evaluated not reviewed unknown Array 11 9826 0.00111948 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC127664 Ala192Glu A192E not reviewed Insufficiently evaluated not reviewed unknown Array rs62441979 94 108 0.87037 42 0 78 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK308991 Arg185Met R185M not reviewed Insufficiently evaluated not reviewed unknown Array rs16881812 341 3234 0.105442 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK308991 Leu169Phe L169F not reviewed Insufficiently evaluated not reviewed unknown Array 219 3234 0.067718 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK308991 Ile7Val I7V not reviewed Insufficiently evaluated not reviewed unknown Array rs7787814 309 3232 0.0956064 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - NOD1 Tyr89His Y89H not reviewed Insufficiently evaluated not reviewed unknown Array rs5743336 7 126 0.0555556 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK225487 Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232125 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA13 Ala2168Pro A2168P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA13 GluIle2582Asp EI2582D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA13 Ile4786Val I4786V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC089392 Asp43His D43H not reviewed Insufficiently evaluated not reviewed unknown Array rs595463 12 102 0.117647 5 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC3A Thr270Ser T270S not reviewed Insufficiently evaluated not reviewed unknown Array rs73714254 1465 4586 0.31945 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MUC3A Ile274Met I274M not reviewed Insufficiently evaluated not reviewed unknown Array rs73714255 1020 4586 0.222416 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC3A Ser388Thr S388T not reviewed Insufficiently evaluated not reviewed unknown Array rs75799835 9 4586 0.00196249 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AB306208 Glu141Lys E141K not reviewed Insufficiently evaluated not reviewed unknown Array rs17252 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRBA1 Val732Ile V732I not reviewed Insufficiently evaluated not reviewed unknown Array rs62617118 244 9736 0.0250616 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RP1L1 GluGlyThrGluGly1308ThrGlu EGTEG1308TE not reviewed Insufficiently evaluated not reviewed unknown Array 9 118 0.0762712 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GOT1L1 Gln332Arg Q332R not reviewed Insufficiently evaluated not reviewed unknown Array rs28379463 10 128 0.078125 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANK1 Leu555Gln L555Q benign Low clinical importance, Uncertain benign unknown Array 1 126 0.00793651 1 0 1 0 0 0 Y - - 0 Y - - - - - - - - - - 0.997 - Y 5 Y 3 N 0 0 Rare. Other variants in this gene reported to cause spherocytosis in a recessive manner but examples listed on OMIM are more severe termination or frameshift variants. Because it is less severe, this variant is tentatively presumed non-pathogenic. C8ORF34 Arg159Gln R159Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736081 203 10758 0.0188697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM64 Val86Thr V86T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_207414 Leu331Ser L331S not reviewed Insufficiently evaluated not reviewed unknown Array rs2748418 2749 9828 0.279711 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - EPPK1 Leu2056Val L2056V not reviewed Insufficiently evaluated not reviewed unknown Array rs7839934 26 124 0.209677 17 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DPP7 Ile469Del I469Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71815738 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC039399 Arg113Gly R113G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - A3GALT2 Thr106Shift T106Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - S100A3 Val70Shift V70Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11390146 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRTM3 Pro500Shift P500Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYPN Gly248Shift G248Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDH23 Arg1347Cys R1347C not reviewed Insufficiently evaluated not reviewed unknown Array rs41281318 35 10308 0.00339542 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CDH23 Val2280Ile V2280I not reviewed Insufficiently evaluated not reviewed unknown Array rs41281334 344 10562 0.0325696 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - PAOX Leu205Shift L205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM111B Tyr132Shift Y132Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC22A20 Arg453Stop R453X not reviewed Insufficiently evaluated not reviewed unknown Array rs564476 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C11ORF54 Glu215Shift E215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDON Tyr301Shift Y301Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MMAB Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36013132 34 120 0.283333 26 0 26 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - AX747031 Tyr95Stop Y95X not reviewed Insufficiently evaluated not reviewed unknown Array rs12432052 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C14ORF184 Glu123Shift E123Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34650717 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JAG2 Thr100Shift T100Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66819778 10 126 0.0793651 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFYVE19 Arg48Shift R48Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs62018606 1 122 0.00819672 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2C1 Phe273Shift F273Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLX4 Gly1396Shift G1396Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 116 0.00862069 1 0 1 2 2 3 Y - - 0 Y - - 4 - 1 - - - - - - - - 4 Y 2 N 2 0 Unreported, predicted to be damaging. Other severe recessive mutations in this gene reported to cause Fanconi anemia. C17ORF100 Ala105Shift A105Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56268735 30 0 59 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EU446727 Ala25Shift A25Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11398287 18 96 0.1875 27 0 52 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF103 Leu78Shift L78Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5819730 34 0 34 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C20ORF26 Asp279Shift D279Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - URB1 Leu791Shift L791Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP2D7P1 Glu121Shift E121Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34035805 49 128 0.382812 33 0 37 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOLGA4 Ser1195Shift S1195Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC22A14 Leu238Shift L238Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA2D3 Asn529Shift N529Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC110 Ser330Shift S330Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001080479 Lys266Shift K266Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSPA9 Thr294Shift T294Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs41295719 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C5ORF25 Asp472Shift D472Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-H Arg141Gln R141Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1611614 9 48 0.1875 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-H Gly217Ala G217A not reviewed Insufficiently evaluated not reviewed unknown Array 9 122 0.0737705 6 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - NM_001004349 Arg38Shift R38Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11393606 33 114 0.289474 23 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CUTA Arg58Shift R58Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POMZP3 Leu187Shift L187Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71819724 20 46 0.434783 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPY19L2P2 Met120Shift M120Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MLL3 Gly3322Shift G3322Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WDR60 His776Shift H776Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AJ005372 Phe185Shift F185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 37 106 0.349057 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AL136588 Tyr89Shift Y89Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 38 0.0789474 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASMTL Stop622Shift X622Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs113329185 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RHCE Asn68Ser N68S not reviewed Insufficiently evaluated not reviewed unknown Array rs1053344 20 114 0.175439 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC5A9 Ala618Val A618V not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRPF38A Lys139Glu K139E not reviewed Insufficiently evaluated not reviewed unknown Array rs6677047 4082 10758 0.379439 32 0 48 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFI44L Arg257Cys R257C not reviewed Insufficiently evaluated not reviewed unknown Array rs1981071 16 128 0.125 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC039493 Pro37Ala P37A not reviewed Insufficiently evaluated not reviewed unknown Array 27 128 0.210938 21 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C1ORF99 Thr7Gly T7G not reviewed Insufficiently evaluated not reviewed unknown Array rs10159161 35 128 0.273438 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM58B Asp14Gly D14G not reviewed Insufficiently evaluated not reviewed unknown Array 559 10714 0.0521747 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CAPN8 Glu102Lys E102K not reviewed Insufficiently evaluated not reviewed unknown Array rs4072247 9 128 0.0703125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK310613 Lys58Arg K58R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC129979 Val11Ala V11A not reviewed Insufficiently evaluated not reviewed unknown Array rs17370636 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASB13 Arg113Cys R113C not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ARHGAP12 Ser513Gln S513Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARCH8 Pro374Ser P374S not reviewed Insufficiently evaluated not reviewed unknown Array rs3764990 501 10758 0.04657 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MARCH8 Leu269Ser L269S not reviewed Insufficiently evaluated not reviewed unknown Array rs2291429 2 100 0.02 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MARCH8 Ser101Leu S101L not reviewed Insufficiently evaluated not reviewed unknown Array rs12769244 3 124 0.0241935 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF503 Gly27GlyGlyGly G27GGG not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK310947 Ile82Met I82M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AB290171 Arg1375Gln R1375Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11604232 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB231740 Val87Met V87M not reviewed Insufficiently evaluated not reviewed unknown Array rs552409 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB231740 Met59Lys M59K not reviewed Insufficiently evaluated not reviewed unknown Array rs483365 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK026328 Arg117Trp R117W not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK056228 Arg59Trp R59W not reviewed Insufficiently evaluated not reviewed unknown Array rs55979725 12 128 0.09375 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC035635 Glu56Asp E56D not reviewed Insufficiently evaluated not reviewed unknown Array rs74062845 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TAS2R43 PheTrp294LeuArg FW294LR not reviewed Insufficiently evaluated not reviewed unknown Array 2 64 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR4A1 Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPATA13 Arg200Lys R200K not reviewed Insufficiently evaluated not reviewed unknown Array rs9511156 9 128 0.0703125 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AK054970 Ser73Leu S73L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR594591 Met87Arg M87R not reviewed Insufficiently evaluated not reviewed unknown Array rs1807442 22 104 0.211538 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SERPINA13 Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array rs17826595 1407 10758 0.130786 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IGHA2 Met325Leu M325L not reviewed Insufficiently evaluated not reviewed unknown Array 58 82 0.707317 18 0 36 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ADAM6 Met87Thr M87T not reviewed Insufficiently evaluated not reviewed unknown Array rs67875134 32 62 0.516129 17 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - X58398 Ser95Asp S95D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747619 Gly235Ala G235A not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNM Pro566Leu P566L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743244 1556 10210 0.1524 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SYNM Pro760Leu P760L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743247 460 10194 0.0451246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Arg1066Pro R1066P not reviewed Insufficiently evaluated not reviewed unknown Array rs5030698 484 10218 0.0473674 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYNM Gly1344Ala G1344A not reviewed Insufficiently evaluated not reviewed unknown Array rs7167599 1495 10118 0.147756 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK056814 Leu114Pro L114P not reviewed Insufficiently evaluated not reviewed unknown Array rs7189857 37 86 0.430233 16 0 24 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NLRC5 Pro83Gln P83Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - NM_001101347 Ala81Thr A81T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO31 Cys131Tyr C131Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXO31 Ala26Ser A26S not reviewed Insufficiently evaluated not reviewed unknown Array rs3748393 31 94 0.329787 17 0 22 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - GLOD4 Ala281Asp A281D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RNMTL1 Val339Asn V339N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK095766 Tyr82Ser Y82S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 5 Y 1 N - - FAM27L Pro38Gln P38Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRCD Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array rs73998961 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF213 Pro460Leu P460L not reviewed Insufficiently evaluated not reviewed unknown Array rs72849841 1526 10758 0.141848 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SERPINBP1 Leu303Pro L303P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC157867 Asp89Glu D89E not reviewed Insufficiently evaluated not reviewed unknown Array 12 122 0.0983607 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - EMR4P Lys67Asn K67N not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF181 Arg503Ser R503S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730458 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHG2 Pro664Ala P664A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC034980 Pro563Leu P563L not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF541 Thr132Ser T132S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FCGRT Arg41His R41H not reviewed Insufficiently evaluated not reviewed unknown Array rs73582442 15 114 0.131579 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK127846 Pro283Leu P283L not reviewed Insufficiently evaluated not reviewed unknown Array rs11672445 8 128 0.0625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK056776 Leu241Phe L241F not reviewed Insufficiently evaluated not reviewed unknown Array rs11670105 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LENG9 Ala170Thr A170T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001101330 Asn233Lys N233K not reviewed Insufficiently evaluated not reviewed unknown Array 156 10006 0.0155906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001101330 Lys93Arg K93R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10026 0.00159585 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ALMS1P Val134Phe V134F not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC068242 Val230Ile V230I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIRPA Leu44Ser L44S not reviewed Insufficiently evaluated not reviewed unknown Array rs1135192 214 10476 0.0204276 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX746654 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array rs910972 24 114 0.210526 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C20ORF62 Val21Phe V21F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001037335 Thr2170Met T2170M not reviewed Insufficiently evaluated not reviewed unknown Array rs3810481 1186 10690 0.110945 12 0 17 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - NM_001037335 Leu1821Arg L1821R not reviewed Insufficiently evaluated not reviewed unknown Array rs3810486 833 9300 0.0895699 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001037335 Arg1381Lys R1381K not reviewed Insufficiently evaluated not reviewed unknown Array rs3810487 1473 10636 0.138492 9 0 13 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - YBEY Arg150Leu R150L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736728 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - CECR2 Gly23Arg G23R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9344 0.00010702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBC1D10A Arg410His R410H not reviewed Insufficiently evaluated not reviewed unknown Array rs4823086 1031 10758 0.0958357 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C22ORF27 Arg9Gly R9G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2D7P1 Ser283Gly S283G not reviewed Insufficiently evaluated not reviewed unknown Array rs2856959 31 120 0.258333 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CYP2D7P1 Ile280Val I280V not reviewed Insufficiently evaluated not reviewed unknown Array rs2982055 31 120 0.258333 22 0 25 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PRR5-ARHGAP8 Glu407Gln E407Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41278887 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GRIP2 Thr771Met T771M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGD5 Val312Met V312M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751585 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC101231 Phe74Ser F74S not reviewed Insufficiently evaluated not reviewed unknown Array rs9861097 36 108 0.333333 21 0 27 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AF088032 His66Tyr H66Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62282794 2 60 0.0333333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRK4 Thr53Ile T53I not reviewed Insufficiently evaluated not reviewed unknown Array rs60504719 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C4ORF23 Pro38Thr P38T not reviewed Insufficiently evaluated not reviewed unknown Array rs61739067 5 128 0.0390625 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC157885 Arg557Gln R557Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61739432 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM29 Ser777SerHisProGlnLeuThrProSerGlnSer S777SHPQLTPSQS not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHB2 Gly760Glu G760E not reviewed Insufficiently evaluated not reviewed unknown Array rs1047373 14 122 0.114754 13 0 13 0 0 - - - - - - - - - - - - - - - - 0.256 - - 6 Y 0 N - - PCDHB3 Val460Phe V460F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - GPRIN1 GluAspProGlySerLeuArgLys233Del EDPGSLRK233Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3797464 27 128 0.210938 22 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX747985 Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array rs28420183 39 56 0.696429 16 0 32 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRSS16 GluSerGlnIleLys507Del ESQIK507Del not reviewed Insufficiently evaluated not reviewed unknown Array rs5030663 17 126 0.134921 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK310256 Pro24Ser P24S not reviewed Insufficiently evaluated not reviewed unknown Array rs17185132 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK310256 Ala99Pro A99P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737605 2 76 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK310256 Leu147Pro L147P not reviewed Insufficiently evaluated not reviewed unknown Array rs61729757 7 126 0.0555556 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC051362 Tyr183His Y183H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729757 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-A Phe33Thr F33T not reviewed Insufficiently evaluated not reviewed unknown Array rs1136659 9 118 0.0762712 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - HLA-A ProIle217AlaVal PI217AV not reviewed Insufficiently evaluated not reviewed unknown Array rs1059563 9 96 0.09375 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-C ThrLeu118IleIle TL118II not reviewed Insufficiently evaluated not reviewed unknown Array rs1071649 9 102 0.0882353 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HCP5 Gly93Glu G93E not reviewed Insufficiently evaluated not reviewed unknown Array rs2255223 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTNL2 Pro393Gln P393Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28362676 31 10758 0.00288158 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - TTBK1 Glu771Del E771Del not reviewed Insufficiently evaluated not reviewed unknown Array 8 112 0.0714286 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DST Arg3848Trp R3848W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DST Ser2474Leu S2474L not reviewed Insufficiently evaluated not reviewed unknown Array rs62619760 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC032958 Ile125Thr I125T not reviewed Insufficiently evaluated not reviewed unknown Array rs1208285 23 108 0.212963 10 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC127664 Asn149Lys N149K not reviewed Insufficiently evaluated not reviewed unknown Array rs62441986 2 60 0.0333333 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001003806 Lys18Glu K18E not reviewed Insufficiently evaluated not reviewed unknown Array rs1053760 349 9588 0.0363997 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRGV5 Ser139Thr S139T not reviewed Insufficiently evaluated not reviewed unknown Array 10 102 0.0980392 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NACAD Ala508Val A508V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740884 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HPVC1 Phe114Cys F114C not reviewed Insufficiently evaluated not reviewed unknown Array 3 112 0.0267857 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DQ581928 Leu2Pro L2P not reviewed Insufficiently evaluated not reviewed unknown Array 1 40 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF62 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array rs2293583 977 10758 0.0908161 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF804B Pro644Ser P644S not reviewed Insufficiently evaluated not reviewed unknown Array rs71526642 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ERVWE1 Arg159Cys R159C not reviewed Insufficiently evaluated not reviewed unknown Array 2 96 0.0208333 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - ERVWE1 His155Tyr H155Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 100 0.02 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - MUC17 Ser1237Asn S1237N not reviewed Insufficiently evaluated not reviewed unknown Array rs4729648 384 10758 0.0356944 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 IleThr1695MetPro IT1695MP not reviewed Insufficiently evaluated not reviewed unknown Array 4 114 0.0350877 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPY19L2P2 Asn333Ile N333I not reviewed Insufficiently evaluated not reviewed unknown Array rs17136078 15 122 0.122951 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DPY19L2P2 Cys265His C265H not reviewed Insufficiently evaluated not reviewed unknown Array 5 98 0.0510204 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM115C Asp49Asn D49N not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AB209502 Gly352Ser G352S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RP1L1 Ala1319Arg A1319R not reviewed Insufficiently evaluated not reviewed unknown Array rs4840501 13 100 0.13 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C8ORF49 Thr49Ser T49S not reviewed Insufficiently evaluated not reviewed unknown Array rs56213203 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_021631 Ser44Asn S44N not reviewed Insufficiently evaluated not reviewed unknown Array 199 10474 0.0189994 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DEPTOR Ser389Asn S389N not reviewed Insufficiently evaluated not reviewed unknown Array rs4871827 24 0 28 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_207414 Gly745Ser G745S not reviewed Insufficiently evaluated not reviewed unknown Array rs74908317 1854 10332 0.179443 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AY277601 Arg309Cys R309C not reviewed Insufficiently evaluated not reviewed unknown Array rs72693365 7 126 0.0555556 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EPPK1 Arg2190Ser R2190S not reviewed Insufficiently evaluated not reviewed unknown Array 4 102 0.0392157 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPPK1 Val1676Met V1676M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK308327 Asp791Glu D791E not reviewed Insufficiently evaluated not reviewed unknown Array rs623447 15 108 0.138889 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - AK308327 Gly882Arg G882R not reviewed Insufficiently evaluated not reviewed unknown Array rs815819 12 94 0.12766 9 0 12 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - BC130414 Ala13Gly A13G not reviewed Insufficiently evaluated not reviewed unknown Array 12 108 0.111111 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CNKSR1 Pro284Shift P284Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX747691 Gln90Shift Q90Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2T2 Cys204Shift C204Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72452004 2 16 0.125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SMPD1 ValLeu36Del VL36Del not reviewed Insufficiently evaluated not reviewed unknown Array rs1050228 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - NAV2 Cys1633Shift C1633Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR8I2 Leu166Shift L166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR8I2 His175Shift H175Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR5M10 Ala116Shift A116Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GDPD4 Ile398Shift I398Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71272231 23 124 0.185484 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM76B Ile234Shift I234Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT1 Gly581Leu G581L not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - HOXC11 Arg294Shift R294Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 96 0.0208333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRIQ1 Asn1702Shift N1702Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5799725 5 92 0.0543478 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C12ORF48 Pro159Shift P159Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TGM1 Ala700Pro A700P pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 124 0.00806452 1 0 1 0 0 1 Y - - 0 Y - - 3 Y 1 - Y - - - 0.899 Y Y 2 - 4 N 1 0 Unreported, predicted to be damaging. Other recessive missense mutations in this gene are reported to cause ichthyosis. C14ORF23 Lys115Shift K115Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34203558 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRPM1 Asp1370Shift D1370Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC066551 Leu63Shift L63Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRR25 Thr236Shift T236Shift not reviewed Insufficiently evaluated not reviewed unknown Array 34 120 0.283333 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK056814 Gln97Shift Q97Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66894948 30 102 0.294118 26 0 44 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C16ORF61 Gly35Shift G35Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Val37Shift V37Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 74 0.027027 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MPO Met519Shift M519Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA9 Ser863Shift S863Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF55 Ala49Shift A49Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3215153 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF440 Asn310Shift N310Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF233 Leu662Shift L662Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59660444 46 126 0.365079 25 0 30 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYNGR4 Ser140Shift S140Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF813 Lys446Shift K446Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_003131 Gln17Shift Q17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GFPT1 Ala254Shift A254Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RANBP2 Arg3097Shift R3097Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZRANB3 Arg533Shift R533Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Arg30394His R30394H not reviewed Insufficiently evaluated not reviewed unknown Array rs4894028 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ile29476Thr I29476T not reviewed Insufficiently evaluated not reviewed unknown Array rs62621236 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Val28134Met V28134M not reviewed Insufficiently evaluated not reviewed unknown Array rs747122 20 128 0.15625 15 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Asp24018His D24018H not reviewed Insufficiently evaluated not reviewed unknown Array rs56307213 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Glu22032Gln E22032Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55762754 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Arg21421His R21421H not reviewed Insufficiently evaluated not reviewed unknown Array rs10164753 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TTN IleAlaProGluGluGlu10816Del IAPEEE10816Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ANKAR Asn1237Shift N1237Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL20A1 Gly1149Shift G1149Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67798234 13 20 0.65 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC065749 Gln90Stop Q90X not reviewed Insufficiently evaluated not reviewed unknown Array rs4822808 20 116 0.172414 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - EFHB Ala550Shift A550Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC22A14 Ala549Shift A549Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEMA3B Arg29Shift R29Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67324803 63 82 0.768293 22 0 42 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AASDH Gln115Shift Q115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DDIT4L Lys180Shift K180Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56763427 11 128 0.0859375 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HEATR7B2 Glu1064Shift E1064Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-DQA1 Gln198Glu Q198E not reviewed Insufficiently evaluated not reviewed unknown Array rs2308890 2928 7506 0.390088 12 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 2 N - - CALD1 Pro694Shift P694Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DGKI Glu1062Shift E1062Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNH2 Arg1007Gly R1007G not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.272 Y Y 6 Y 3 N - - RECQL4 Arg902Gln R902Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10202 0.000196039 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs35041767 22 126 0.174603 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - KIAA1539 Thr341Shift T341Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C1ORF170 Arg410Gln R410Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34903276 6 124 0.0483871 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PADI6 Val671Ile V671I not reviewed Insufficiently evaluated not reviewed unknown Array 108 10104 0.0106888 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXLNA Cys87Ile C87I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZMYM6 Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSCP1 Ile229Thr I229T not reviewed Insufficiently evaluated not reviewed unknown Array rs1416840 981 10758 0.091188 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CLCA4 ThrPro886Del TP886Del not reviewed Insufficiently evaluated not reviewed unknown Array rs56291320 74 124 0.596774 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX747691 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGSF3 Trp595Gln W595Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730489 8 54 0.148148 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AX747534 Pro27Arg P27R not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRG4 Pro479Thr P479T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - OR2T8 Cys146Ser C146S not reviewed Insufficiently evaluated not reviewed unknown Array 13 68 0.191176 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - C10ORF113 Met142Ile M142I not reviewed Insufficiently evaluated not reviewed unknown Array rs41307495 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGAP21 Ser1949Thr S1949T not reviewed Insufficiently evaluated not reviewed unknown Array rs1127893 46 106 0.433962 27 0 35 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NPFFR1 Val129Ile V129I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRK5 Val401Glu V401E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - C10ORF92 Arg818Cys R818C not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC5AC Ala6145Thr A6145T not reviewed Insufficiently evaluated not reviewed unknown Array rs56255524 42 4580 0.0091703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AB290171 Asp2556Glu D2556E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GVINP1 Ile953Thr I953T not reviewed Insufficiently evaluated not reviewed unknown Array rs17262467 14 128 0.109375 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK308310 Arg145Lys R145K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741649 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NR_023920 Gly66Ala G66A not reviewed Insufficiently evaluated not reviewed unknown Array rs3087923 37 124 0.298387 23 0 30 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC142657 Val124Leu V124L not reviewed Insufficiently evaluated not reviewed unknown Array rs7101891 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM48 Ile68Thr I68T not reviewed Insufficiently evaluated not reviewed unknown Array rs61894887 7 126 0.0555556 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.662 - - 3 - 0 N - - SPRYD5 Gln175Pro Q175P not reviewed Insufficiently evaluated not reviewed unknown Array rs61897550 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - OR5R1 AspCys121GlyArg DC121GR not reviewed Insufficiently evaluated not reviewed unknown Array rs6591324 7 128 0.0546875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DSCAML1 Ile1402Ala I1402A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHG6 Lys655Gln K655Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - AK091689 Ser39Tyr S39Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - METTL7B Pro40Ser P40S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001083900 His1053Tyr H1053Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001083900 Val1896Met V1896M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPATA13 Gly540Ser G540S not reviewed Insufficiently evaluated not reviewed unknown Array rs41287016 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK057244 GluGluGluGluTyrLeu135Del EEEEYL135Del not reviewed Insufficiently evaluated not reviewed unknown Array rs28548352 19 92 0.206522 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MYCBP2 Val1651Ile V1651I not reviewed Insufficiently evaluated not reviewed unknown Array rs61749892 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.217 - - -4 - 1 N - - JAG2 Arg146Cys R146C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - X58398 Met67Thr M67T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - X58398 Tyr51His Y51H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AJ004954 Thr100Met T100M not reviewed Insufficiently evaluated not reviewed unknown Array rs62007810 9 108 0.0833333 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HERC2P3 Asp279Gly D279G not reviewed Insufficiently evaluated not reviewed unknown Array rs295739 19 76 0.25 11 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HERC2P3 Phe24Leu F24L not reviewed Insufficiently evaluated not reviewed unknown Array rs295731 22 84 0.261905 12 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AX747619 Ala34Ser A34S not reviewed Insufficiently evaluated not reviewed unknown Array rs11856618 11 126 0.0873016 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK095530 Gly33Trp G33W not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK056814 Asn339Asp N339D not reviewed Insufficiently evaluated not reviewed unknown Array rs213659 34 118 0.288136 26 0 34 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_014711 Pro171Leu P171L not reviewed Insufficiently evaluated not reviewed unknown Array rs3751821 1519 10758 0.141197 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CES1 Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array 13 116 0.112069 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HP Asn129Asp N129D not reviewed Insufficiently evaluated not reviewed unknown Array 7 110 0.0636364 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - PKD1L2 Leu2414Phe L2414F not reviewed Insufficiently evaluated not reviewed unknown Array 288 10152 0.0283688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Gly2257Asp G2257D not reviewed Insufficiently evaluated not reviewed unknown Array 214 10044 0.0213063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK123582 His126Tyr H126Y not reviewed Insufficiently evaluated not reviewed unknown Array rs13333300 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - OR3A4 Arg237Lys R237K not reviewed Insufficiently evaluated not reviewed unknown Array rs231677 617 10758 0.0573527 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MPDU1 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array rs10852891 14 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BC156586 Val40Ile V40I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - B9D1 Arg28Lys R28K not reviewed Insufficiently evaluated not reviewed unknown Array rs2296978 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NM_144610 His65Leu H65L not reviewed Insufficiently evaluated not reviewed unknown Array rs55712294 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NPEPPS Phe218Cys F218C not reviewed Insufficiently evaluated not reviewed unknown Array rs4796259 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYCBPAP Arg740Thr R740T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754788 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - AL833315 Leu3Pro L3P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - SDK2 Val227Met V227M not reviewed Insufficiently evaluated not reviewed unknown Array rs35074489 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK057217 Trp76Arg W76R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSPAN10 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array 251 9942 0.0252464 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOXHD1 Val547Met V547M not reviewed Insufficiently evaluated not reviewed unknown Array rs36086089 12 128 0.09375 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 1 N - - PLK5P Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF556 Glu395Leu E395L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPP9 Ala155Gly A155G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC159 Ala279Thr A279T not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD97 Leu635Gly L635G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UNC13A Pro52Gln P52Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 126 0.0714286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF676 Lys376Ser K376S not reviewed Insufficiently evaluated not reviewed unknown Array 14 120 0.116667 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - APLP1 ProHis471Del PH471Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX746660 Arg123Thr R123T not reviewed Insufficiently evaluated not reviewed unknown Array rs1057745 22 128 0.171875 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NR_003131 Arg64Cys R64C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH6 Val365Ile V365I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC146835 Trp105Gly W105G not reviewed Insufficiently evaluated not reviewed unknown Array rs62156176 18 108 0.166667 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_207482 Thr1428Ile T1428I not reviewed Insufficiently evaluated not reviewed unknown Array rs17826666 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CR603438 Asp255Cys D255C not reviewed Insufficiently evaluated not reviewed unknown Array 3 116 0.0258621 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CR603438 Met264Thr M264T not reviewed Insufficiently evaluated not reviewed unknown Array 7 96 0.0729167 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC157891 His423Pro H423P not reviewed Insufficiently evaluated not reviewed unknown Array rs17717241 11 128 0.0859375 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C20ORF62 His71Gln H71Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NPEPL1 Arg137Leu R137L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CECR2 Tyr597Cys Y597C not reviewed Insufficiently evaluated not reviewed unknown Array 16 9726 0.00164508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAS2L1 Gln512Lys Q512K not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GTSE1 Thr181Ala T181A not reviewed Insufficiently evaluated not reviewed unknown Array rs6008600 23 124 0.185484 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SETMAR Arg78His R78H not reviewed Insufficiently evaluated not reviewed unknown Array rs6801634 15 128 0.117188 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZBTB47 Ile257Pro I257P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CELSR3 Arg2877Gln R2877Q not reviewed Insufficiently evaluated not reviewed unknown Array 131 10742 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF717 GluCysArg818Del ECR818Del not reviewed Insufficiently evaluated not reviewed unknown Array 23 72 0.319444 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZNF717 Arg719Val R719V not reviewed Insufficiently evaluated not reviewed unknown Array rs2224824 3 94 0.0319149 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Arg490Gln R490Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 104 0.105769 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK094480 Asp92Glu D92E not reviewed Insufficiently evaluated not reviewed unknown Array rs62273902 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK094480 Cys122Arg C122R not reviewed Insufficiently evaluated not reviewed unknown Array rs62273904 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NM_001040071 Gly178Ala G178A not reviewed Insufficiently evaluated not reviewed unknown Array 7 90 0.0777778 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001040071 Phe184Tyr F184Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 88 0.0795455 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001040071 Phe189Ser F189S not reviewed Insufficiently evaluated not reviewed unknown Array 6 92 0.0652174 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_001040071 Trp192Arg W192R not reviewed Insufficiently evaluated not reviewed unknown Array 5 92 0.0543478 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AMBN Gly180Del G180Del not reviewed Insufficiently evaluated not reviewed unknown Array 23 126 0.18254 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SHROOM3 Leu146His L146H not reviewed Insufficiently evaluated not reviewed unknown Array rs3821979 20 128 0.15625 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.191 - - 6 Y 0 N - - SHROOM3 Ser324Ala S324A not reviewed Insufficiently evaluated not reviewed unknown Array rs61999292 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - -1 - 1 N - - FRAS1 Gln1670Lys Q1670K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - AK057480 Met50Thr M50T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBB4Q Val348Ile V348I not reviewed Insufficiently evaluated not reviewed unknown Array rs2898750 13 82 0.158537 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TUBB4Q Phe344Leu F344L not reviewed Insufficiently evaluated not reviewed unknown Array rs2411551 13 82 0.158537 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK002097 Gly244Arg G244R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC051362 Gln153Pro Q153P not reviewed Insufficiently evaluated not reviewed unknown Array rs2905755 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-A GluTrp190AspGly EW190DG not reviewed Insufficiently evaluated not reviewed unknown Array rs3129016 12 94 0.12766 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BX648746 Arg186Thr R186T not reviewed Insufficiently evaluated not reviewed unknown Array rs9261263 6 128 0.046875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - BX648746 Pro43Ser P43S not reviewed Insufficiently evaluated not reviewed unknown Array rs6911724 22 128 0.171875 21 0 26 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PRRC2A ProAlaAlaPro512Del PAAP512Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001098534 Asn4Asp N4D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DPB1 LeuPhe37ValHis LF37VH not reviewed Insufficiently evaluated not reviewed unknown Array rs1126504 10 126 0.0793651 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AX746830 Val143Ile V143I not reviewed Insufficiently evaluated not reviewed unknown Array rs3823111 855 10758 0.0794757 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BAI3 ThrGln420SerArg TQ420SR not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - REPS1 Val664Ile V664I not reviewed Insufficiently evaluated not reviewed unknown Array rs1044418 10 128 0.078125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PHF14 Asp926Gly D926G not reviewed Insufficiently evaluated not reviewed unknown Array 13 9290 0.00139935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPY19L2P1 Arg14His R14H not reviewed Insufficiently evaluated not reviewed unknown Array rs73095561 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF138 Gly66Ser G66S not reviewed Insufficiently evaluated not reviewed unknown Array rs35742014 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GTF2IRD2P1 Lys269Glu K269E not reviewed Insufficiently evaluated not reviewed unknown Array rs2527357 15 96 0.15625 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C7ORF63 Thr895Met T895M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZAN Arg1923Pro R1923P not reviewed Insufficiently evaluated not reviewed unknown Array rs71555302 173 10010 0.0172827 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZAN Asn2473Lys N2473K not reviewed Insufficiently evaluated not reviewed unknown Array rs77705466 101 10704 0.00943572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC3A Leu334Pro L334P not reviewed Insufficiently evaluated not reviewed unknown Array rs73163762 595 4586 0.129743 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RBM33 Gln823Arg Q823R not reviewed Insufficiently evaluated not reviewed unknown Array 8 64 0.125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF705D Pro284His P284H not reviewed Insufficiently evaluated not reviewed unknown Array 14 14 1 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RNF5P1 Asp8Gly D8G not reviewed Insufficiently evaluated not reviewed unknown Array rs7812668 28 108 0.259259 23 0 26 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AL832262 Pro43Leu P43L not reviewed Insufficiently evaluated not reviewed unknown Array rs16939394 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_207414 Arg1082Gln R1082Q not reviewed Insufficiently evaluated not reviewed unknown Array 839 10372 0.0808909 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_207414 Gly690Arg G690R not reviewed Insufficiently evaluated not reviewed unknown Array 92 9714 0.00947087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPPK1 Asp1645Gly D1645G not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGAP39 Gln376Del Q376Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 118 0.0338983 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CTSL3 Ala188Ser A188S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR1L1 Asp33Asn D33N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GARNL3 Asp558Glu D558E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_013318 Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array 61 9776 0.00623977 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK8 Asp130Gly D130G not reviewed Insufficiently evaluated not reviewed unknown Array rs17407084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - AK8 Ile5Thr I5T not reviewed Insufficiently evaluated not reviewed unknown Array rs2231400 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR593643 Arg319Cys R319C not reviewed Insufficiently evaluated not reviewed unknown Array rs11137403 23 102 0.22549 15 0 18 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 1 N - - BC093994 Cys103Arg C103R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IRS4 Arg411His R411H not reviewed Insufficiently evaluated not reviewed unknown Array rs1800993 3 92 0.0326087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR622587 Ile63Asn I63N not reviewed Insufficiently evaluated not reviewed unknown Array 11 86 0.127907 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CR622587 Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 83 0.144578 8 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001039768 Pro48Ala P48A not reviewed Insufficiently evaluated not reviewed unknown Array rs56026845 19 19 1 11 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK307233 Pro52Ser P52S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSPY3 Leu239Pro L239P not reviewed Insufficiently evaluated not reviewed unknown Array rs410975 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1751 Gly739Shift G739Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3838976 23 114 0.201754 17 0 17 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF92 Arg198Shift R198Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNFSF18 Ile190Shift I190Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK123177 Arg96Stop R96X not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - AKR1C2 His53Shift H53Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CUBN Thr2549Shift T2549Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - CDH23 Gly488Ala G488A not reviewed Insufficiently evaluated not reviewed unknown Array rs1227049 1275 10418 0.122384 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - AX746750 Ser137Shift S137Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs117208576 1 100 0.01 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM8 Glu819Shift E819Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58683011 6 124 0.0483871 42 0 82 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR51B5 Ala66Shift A66Shift not reviewed Insufficiently evaluated not reviewed unknown Array 17 126 0.134921 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - B3GNT1 Leu316Shift L316Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56037330 28 0 28 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC032242 Glu82Shift E82Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAP4K5 Asp737Shift D737Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RCOR1 Thr332Shift T332Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Ala378Val A378V not reviewed Insufficiently evaluated not reviewed unknown Array 8 124 0.0645161 7 0 7 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 2 N - - FMN1 Lys258Glu K258E not reviewed Insufficiently evaluated not reviewed unknown Array rs61744870 2 128 0.015625 3 0 4 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - THBS1 Leu912Shift L912Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HERC1 Ser4421Shift S4421Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEIL1 Pro106Shift P106Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MRPS34 Asn108Shift N108Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34595082 34 84 0.404762 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SMCR5 Arg2Stop R2X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C19ORF21 Arg106Shift R106Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR7G3 Ala237Shift A237Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61730387 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BRD4 Asp1052Shift D1052Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF101 His360Shift H360Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71172514 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBLC Gln419Shift Q419Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66944506 10 124 0.0806452 9 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CCDC155 Leu536Shift L536Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RTN4 Asn268Shift N268Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FASTKD1 Arg803Shift R803Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MOGAT1 Ala280Shift A280Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SDF2L1 Pro97Shift P97Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHADL Asn626Shift N626Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SHQ1 Asn562Shift N562Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM29 Gln753Shift Q753Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAMTS12 Leu721Shift L721Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBXL21 Ser396Shift S396Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC25A2 Tyr44Shift Y44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HIVEP1 Lys950Shift K950Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CMAH Asn272Shift N272Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 10 0 12 1 1 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - This is a pseudogene; variants are of no consequence. HLA-A Thr88Shift T88Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1059457 16 114 0.140351 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIL Ala22Shift A22Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5883174 8 82 0.097561 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_002144 Asp68Shift D68Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 118 0.059322 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX747124 Cys51Shift C51Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72039603 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RECQL4 Val1020Met V1020M not reviewed Insufficiently evaluated not reviewed unknown Array 36 10402 0.00346087 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AK131516 Arg31Stop R31X not reviewed Insufficiently evaluated not reviewed unknown Array rs41274362 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HS6ST2 Leu106Shift L106Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11422742 4 52 0.0769231 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001039768 Gly50Shift G50Shift not reviewed Insufficiently evaluated not reviewed unknown Array 14 19 0.736842 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF167 Arg223Gln R223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41275462 10 86 0.116279 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AKR7L Phe58Leu F58L not reviewed Insufficiently evaluated not reviewed unknown Array 21 128 0.164062 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC104455 Asp76Glu D76E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CACHD1 Gln967Arg Q967R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR2A Gln62Trp Q62W not reviewed Insufficiently evaluated not reviewed unknown Array rs9427397 10 128 0.078125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PRG4 Pro479Del P479Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - NR_003525 Pro275Leu P275L not reviewed Insufficiently evaluated not reviewed unknown Array rs11015624 621 3234 0.192022 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NR_003525 Glu102Lys E102K not reviewed Insufficiently evaluated not reviewed unknown Array rs61737347 57 3234 0.0176252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARCH8 Gly236Arg G236R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK025189 GluAlaAspGlnSerLeu105Asp EADQSL105D not reviewed Insufficiently evaluated not reviewed unknown Array rs12573841 11 126 0.0873016 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FAM149B1 GlyGlyArgProValSer571Arg GGRPVS571R not reviewed Insufficiently evaluated not reviewed unknown Array rs12573841 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGMT Leu84Phe L84F not reviewed Insufficiently evaluated not reviewed unknown Array rs12917 25 128 0.195312 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CR617046 Ser122Leu S122L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SERPINH1 GluArg193AspSer ER193DS not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UVRAG Pro10Gln P10Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7118567 17 98 0.173469 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NOP2 Arg55Del R55Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C12ORF67 Cys44Gly C44G not reviewed Insufficiently evaluated not reviewed unknown Array rs61734782 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR4A1 Ser126Stop S126X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SVOP Gly104Ser G104S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001083900 Thr1724Met T1724M not reviewed Insufficiently evaluated not reviewed unknown Array rs34934281 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001083900 Lys3161Glu K3161E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747398 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARKD GluIle311AspThr EI311DT not reviewed Insufficiently evaluated not reviewed unknown Array rs41275124 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DQ866763 His67Arg H67R not reviewed Insufficiently evaluated not reviewed unknown Array 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DQ866763 Arg33His R33H not reviewed Insufficiently evaluated not reviewed unknown Array 3 58 0.0517241 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DQ341465 Asn139Lys N139K not reviewed Insufficiently evaluated not reviewed unknown Array rs56298757 875 10016 0.0873602 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DQ341465 Glu219Ala E219A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741618 879 10006 0.0878473 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EAPP ArgGln167HisGlu RQ167HE not reviewed Insufficiently evaluated not reviewed unknown Array rs17856038 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR594591 Pro246Leu P246L not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KIAA0125 Gly48Asp G48D not reviewed Insufficiently evaluated not reviewed unknown Array 8 74 0.108108 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - IGHV7-81 Met91Leu M91L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741319 35 10258 0.00341197 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IGHV7-81 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array rs61741308 18 10190 0.00176644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HERC2P3 His966Arg H966R not reviewed Insufficiently evaluated not reviewed unknown Array rs380880 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRINL1A Ala127Pro A127P not reviewed Insufficiently evaluated not reviewed unknown Array rs11858659 213 6038 0.0352766 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBBP6 GluLys1781Del EK1781Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FAM38A Pro913Leu P913L not reviewed Insufficiently evaluated not reviewed unknown Array rs11645197 17 114 0.149123 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - KSR1 Val601Ile V601I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10176 0.00019654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC122868 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPP1R9B Gly357Arg G357R not reviewed Insufficiently evaluated not reviewed unknown Array 7 9404 0.000744364 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF213 His439Asp H439D not reviewed Insufficiently evaluated not reviewed unknown Array rs72849837 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001039796 Arg55Pro R55P not reviewed Insufficiently evaluated not reviewed unknown Array rs11661062 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATP8B3 Stop1301Trp X1301W not reviewed Insufficiently evaluated not reviewed unknown Array rs60482625 942 10134 0.0929544 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR622909 Cys161Arg C161R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR42P Trp174Arg W174R not reviewed Insufficiently evaluated not reviewed unknown Array rs424241 28 0 54 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - U2AF1L4 Gln126Arg Q126R not reviewed Insufficiently evaluated not reviewed unknown Array rs28656784 20 128 0.15625 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GRWD1 Glu129Del E129Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SIGLEC11 Val569Leu V569L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - BIRC8 Ala225Met A225M not reviewed Insufficiently evaluated not reviewed unknown Array rs34683072 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP68 AsnCys356LysSer NC356KS not reviewed Insufficiently evaluated not reviewed unknown Array rs2723088 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SFTPB Ala187Val A187V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - NR_002826 His95Arg H95R not reviewed Insufficiently evaluated not reviewed unknown Array rs2001215 29 106 0.273585 17 0 23 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NR_002826 Arg89Pro R89P not reviewed Insufficiently evaluated not reviewed unknown Array rs2076798 21 90 0.233333 12 0 15 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ALS2CR4 Ala356Ser A356S not reviewed Insufficiently evaluated not reviewed unknown Array rs73989521 788 9536 0.0826342 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1486 Pro140Lys P140K not reviewed Insufficiently evaluated not reviewed unknown Array 2 66 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP40 Arg500Gln R500Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36075906 8 126 0.0634921 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ISM1 Gln46Lys Q46K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.407 - - -2 - 1 N - - PAX1 Gly407Val G407V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.465 - - 8 Y 1 N - - KRTAP10-1 Asp159Ser D159S not reviewed Insufficiently evaluated not reviewed unknown Array rs34549147 40 94 0.425532 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KRTAP10-10 Cys30Shift C30Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEFH GluGlu658Del EE658Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF619 Asn256Ser N256S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - BX648094 Gln737Leu Q737L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FYCO1 Glu590Pro E590P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DOCK3 Arg602Gln R602Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF717 Tyr758Phe Y758F not reviewed Insufficiently evaluated not reviewed unknown Array rs71769254 13 108 0.12037 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ITGB5 PheAsnLys790Del FNK790Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60174997 12 128 0.09375 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK057553 Ala46Glu A46E not reviewed Insufficiently evaluated not reviewed unknown Array rs7615369 11 62 0.177419 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC099730 Pro81His P81H not reviewed Insufficiently evaluated not reviewed unknown Array rs1053401 26 126 0.206349 16 0 19 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - SEPSECS Ala327Thr A327T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC109B Met173Val M173V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIT3 Ser351Del S351Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GFM2 PheGlu609Del FE609Del not reviewed Insufficiently evaluated not reviewed unknown Array rs4063872 55 128 0.429688 20 0 20 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK130941 Thr119Met T119M not reviewed Insufficiently evaluated not reviewed unknown Array rs72771666 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK002097 Gly109Arg G109R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730663 6 114 0.0526316 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ADAMTS2 Ala78Arg A78R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HUS1B Gln212Gly Q212G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CMAH Arg310Pro R310P not reviewed Insufficiently evaluated not reviewed unknown Array rs1128827 10 128 0.078125 17 0 19 1 1 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - This is a pseudogene; variants are of no consequence. CMAH Arg241Trp R241W not reviewed Insufficiently evaluated not reviewed unknown Array rs7774557 10 128 0.078125 17 0 19 1 1 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - This is a pseudogene; variants are of no consequence. CMAH Ile181Thr I181T not reviewed Insufficiently evaluated not reviewed unknown Array rs1128826 10 128 0.078125 17 0 19 1 1 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - This is a pseudogene; variants are of no consequence. CMAH Gly131Ser G131S not reviewed Insufficiently evaluated not reviewed unknown Array rs78066062 4 128 0.03125 11 0 13 1 1 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - This is a pseudogene; variants are of no consequence. HLA-A ValAsp100AlaAsn VD100AN not reviewed Insufficiently evaluated not reviewed unknown Array rs1071742 13 86 0.151163 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MDC1 Pro1259Ser P1259S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - HLA-C ValThrAlaMet328MetAlaValVal VTAM328MAVV not reviewed Insufficiently evaluated not reviewed unknown Array rs1130935 20 98 0.204082 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRRC2A Gly1285Ala G1285A not reviewed Insufficiently evaluated not reviewed unknown Array rs2736158 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRRC2A Phe2083Ser F2083S not reviewed Insufficiently evaluated not reviewed unknown Array rs35595439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK123889 Leu74Phe L74F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFEB Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array rs2273068 10 128 0.078125 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CAPN11 Val404Ala V404A not reviewed Insufficiently evaluated not reviewed unknown Array rs16871612 9 128 0.0703125 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK094715 Asp174Asn D174N not reviewed Insufficiently evaluated not reviewed unknown Array rs41288546 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.447 - - -1 - 1 N - - BX647114 Tyr55Cys Y55C not reviewed Insufficiently evaluated not reviewed unknown Array rs71562294 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK097143 Lys299Glu K299E not reviewed Insufficiently evaluated not reviewed unknown Array rs9496104 8 38 0.210526 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001099267 Met38Val M38V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLLT4 Ile437Val I437V not reviewed Insufficiently evaluated not reviewed unknown Array rs35140809 222 10758 0.0206358 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK308991 Lys204Glu K204E not reviewed Insufficiently evaluated not reviewed unknown Array 177 3232 0.0547649 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK308991 Gln48Arg Q48R not reviewed Insufficiently evaluated not reviewed unknown Array rs16881810 311 3234 0.0961657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCA13 Phe1485Leu F1485L not reviewed Insufficiently evaluated not reviewed unknown Array rs17712299 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCA13 Lys2251Thr K2251T not reviewed Insufficiently evaluated not reviewed unknown Array 10 120 0.0833333 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001089590 Gln29His Q29H not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM160B2 His442Arg H442R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AF007866 Ile287Val I287V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - NM_016134 Thr154Ile T154I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - NM_207414 Met1142Ile M1142I not reviewed Insufficiently evaluated not reviewed unknown Array 98 10324 0.00949244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_207414 Ser200Leu S200L not reviewed Insufficiently evaluated not reviewed unknown Array 112 10220 0.0109589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPPK1 Ala2208Del A2208Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GGTA1 Gly75Asp G75D not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 5 0 0 - - - - - - - - - - - - - - - - - - Y 4 Y 2 N - - OR1L6 Ala136Ile A136I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EEF1A1 Lys210Asn K210N not reviewed Insufficiently evaluated not reviewed unknown Array rs4382593 7 44 0.159091 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABO Gly267Ala G267A not reviewed Insufficiently evaluated not reviewed unknown Array rs8176747 979 9916 0.0987293 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABO Leu265Met L265M not reviewed Insufficiently evaluated not reviewed unknown Array rs8176746 995 9860 0.100913 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ABO Gly234Ser G234S not reviewed Insufficiently evaluated not reviewed unknown Array rs8176743 1021 10206 0.100039 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR592591 Arg52Lys R52K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCA2 Glu216Leu E216L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCA2 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array rs34039859 4 122 0.0327869 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1B ThrThrGluLysGlu996Del TTEKE996Del not reviewed Insufficiently evaluated not reviewed unknown Array rs11137342 24 98 0.244898 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - DGKK Ser1062Asn S1062N not reviewed Insufficiently evaluated not reviewed unknown Array 59 8020 0.00735661 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC061642 Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array rs1133829 15 83 0.180723 11 0 17 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SPANXC Met42Leu M42L not reviewed Insufficiently evaluated not reviewed unknown Array rs59800971 1 53 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - SPANXC ProThr29SerSer PT29SS not reviewed Insufficiently evaluated not reviewed unknown Array rs56201241 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGEC1 PheSer252SerPro FS252SP not reviewed Insufficiently evaluated not reviewed unknown Array 12 35 0.342857 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CLCN6 Val490Shift V490Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 2 N - - BSND Leu85Shift L85Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - AMIGO1 Ser319Shift S319Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NBPF7 Ala207Shift A207Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LMNA Leu15Pro L15P not reviewed Insufficiently evaluated not reviewed unknown Array rs538089 2188 10758 0.203384 22 0 29 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - LMNA Met174Thr M174T not reviewed Insufficiently evaluated not reviewed unknown Array rs505058 2830 10748 0.263305 24 0 36 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - KIF21B Thr34Shift T34Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 116 0.0517241 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRRN2 Ser162Shift S162Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK025189 Ile131Shift I131Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58421991 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MICALCL Glu238Shift E238Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - P2RX3 Cys3Shift C3Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RSF1 Glu1073Shift E1073Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG9 Pro506Leu P506L not reviewed Insufficiently evaluated not reviewed unknown Array 15 9604 0.00156185 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.78 Y Y 7 Y 3 N - - NCAM1 Gln1Shift Q1Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58914549 58 60 0.966667 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XPO4 Ala881Shift A881Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EPSTI1 Glu395Shift E395Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61389340 2 128 0.015625 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TBC1D4 Lys30Shift K30Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYCBP2 Gln2453Shift Q2453Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMTC4 Leu673Shift L673Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR10G2 Arg127Shift R127Shift not reviewed Insufficiently evaluated not reviewed unknown Array 9 110 0.0818182 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BX161387 Arg85Shift R85Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34007703 16 124 0.129032 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF177 Met125Shift M125Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CSK Thr44Shift T44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPRL3 Leu489Shift L489Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57321480 6 126 0.047619 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EDC4 Arg965Shift R965Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG7 Gly199Shift G199Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 3 Y - - 0 Y 0 Y 4 Y 1 Y Y - - - - Y Y 4 Y 4 N 2 0 This variant is predicted to cause hereditary spastic paraplegia (paraplegin type) in a recessive manner. Other downstream frameshift mutations in this gene have been implicated in causing the disease. Age of onset is usually in adulthood (~25 years of age), and is characterized by progressive bilateral lower limb weakness and spasticity. DVL2 Glu162Shift E162Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MEIS3P1 Arg11Shift R11Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59447254 56 56 1 21 0 21 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HAP1 Ser668Stop S668X not reviewed Insufficiently evaluated not reviewed unknown Array rs34381648 10 124 0.0806452 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - ST6GALNAC2 Tyr262Shift Y262Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK057217 Arg590Stop R590X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HEXDC Glu570Shift E570Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POLRMT Cys591Shift C591Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC125186 Thr462Shift T462Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61471402 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1683 Glu349Stop E349X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C19ORF55 Gly398Shift G398Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5827939 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RYR1 Glu1898Del E1898Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs12721650 5 120 0.0416667 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - FUT2 Pro271Shift P271Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIM54 Tyr295Shift Y295Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Ile26091Thr I26091T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg21619His R21619H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Pro20670Leu P20670L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MYT1 Glu270Shift E270Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCNT Arg1257Shift R1257Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 2 N - - ZNF280B Val229Shift V229Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GAS2L1 Leu400Shift L400Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59499896 8 12 0.666667 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RIBC2 Arg309Stop R309X not reviewed Insufficiently evaluated not reviewed unknown Array rs35068483 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR5H15 Ala263Shift A263Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35671483 1 128 0.0078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AY358102 Glu79Shift E79Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TPRA1 Phe265Shift F265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PIGZ Asp141Shift D141Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GBA3 Asn319Shift N319Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PPEF2 Trp446Shift W446Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSD17B13 Ala192Shift A192Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ODZ1 Glu1403Shift E1403Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDE6A Lys827Del K827Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - OFCC1 Glu159Stop E159X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C6ORF112 Tyr66Stop Y66X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SUMF2 Phe102Shift F102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC032716 Tyr42Shift Y42Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57911292 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK097289 Phe90Shift F90Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC26A3 Ala180AlaAla A180AA not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - RP1 Leu1753Shift L1753Shift pathogenic Moderate clinical importance, Uncertain pathogenic unknown Array 1 128 0.0078125 1 0 1 0 0 2 Y - - 0 Y - - 3 - 3 Y Y - - - - Y - 4 Y 3 N 1 0 May cause retinitis pigmentosa, possibly in a recessive manner. Other variants in this gene cause the disease, generally in a dominant manner, although some have been reported as recessive. A frameshift variant is predicted to be severely disruptive, but reported pathogenic variants are all much earlier in the protein. SULF1 Ile344Shift I344Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AL832262 Pro53Shift P53Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLEC Arg2110Shift R2110Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 66 0.0151515 1 0 1 1 1 3 Y - - 0 Y - - 5 Y 1 Y - - - - - - - 4 Y 2 N 2 0 Variants in this protein are implicated in causing Epidermolysis Bullosa with Pyloric Atresia, usually in a recessive manner. This is a severe disorder causing skin fragility and other symptoms and is often lethal in the neonatal period. A frameshift variant is predicted to be severely disruptive to this gene. C9ORF102 Met521Shift M521Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKNA Glu92Shift E92Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CXORF59 Arg424Shift R424Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72358588 22 0 22 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATAD3C Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12089719 12 86 0.139535 7 0 12 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 1 N - - TNFRSF14 Arg2Trp R2W not reviewed Insufficiently evaluated not reviewed unknown Array rs11573975 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM16 Pro936Ala P936A not reviewed Insufficiently evaluated not reviewed unknown Array 2 9706 0.000206058 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 2 - 0 N - - NM_001089591 Glu6Lys E6K not reviewed Insufficiently evaluated not reviewed unknown Array rs61738972 747 10758 0.0694367 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TCEB3 Arg253His R253H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001093732 Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001093734 Gln42Arg Q42R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCA4 ThrProThrPro884Del TPTP884Del not reviewed Insufficiently evaluated not reviewed unknown Array rs56291320 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPSM2 Thr450Met T450M not reviewed Insufficiently evaluated not reviewed unknown Array rs35089879 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PEAR1 ProGlyProLeuPhe839Del PGPLF839Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR621810 Ser48Ile S48I not reviewed Insufficiently evaluated not reviewed unknown Array rs1053582 9 122 0.0737705 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CR621662 Cys64Arg C64R not reviewed Insufficiently evaluated not reviewed unknown Array rs7525401 43 72 0.597222 21 0 31 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC140931 Ala98Thr A98T not reviewed Insufficiently evaluated not reviewed unknown Array rs12087664 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - BC140931 Leu32Arg L32R not reviewed Insufficiently evaluated not reviewed unknown Array rs72746037 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - AK026321 Leu6Pro L6P not reviewed Insufficiently evaluated not reviewed unknown Array rs3820564 14 128 0.109375 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - OR2T6 Cys23Val C23V not reviewed Insufficiently evaluated not reviewed unknown Array rs6587467 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BMI1 Arg18Gly R18G not reviewed Insufficiently evaluated not reviewed unknown Array rs11552445 1345 10070 0.133565 18 0 24 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PTCHD3 Ala136Trp A136W not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRG3 ThrThr131Del TT131Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PNLIPRP2 Lys251Gln K251Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 9940 0.0054326 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM45B Asn220Asp N220D not reviewed Insufficiently evaluated not reviewed unknown Array rs74157632 11 128 0.0859375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC5AC Arg2096Gln R2096Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56141839 12 10426 0.00115097 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Ala2754Gly A2754G not reviewed Insufficiently evaluated not reviewed unknown Array rs61997210 1 98 0.0102041 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Met3452Thr M3452T not reviewed Insufficiently evaluated not reviewed unknown Array rs2860626 1004 8836 0.113626 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Met3705Thr M3705T not reviewed Insufficiently evaluated not reviewed unknown Array rs58125533 169 10444 0.0161815 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Ala6088Val A6088V not reviewed Insufficiently evaluated not reviewed unknown Array rs56367042 234 4580 0.0510917 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NR_021489 Pro88Leu P88L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10754 0.0098568 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGF2AS Pro112Thr P112T not reviewed Insufficiently evaluated not reviewed unknown Array rs17883142 93 9896 0.00939774 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C11ORF36 His23Pro H23P not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF36 Thr38Met T38M not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF36 Glu157Ala E157A not reviewed Insufficiently evaluated not reviewed unknown Array rs73412351 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GVINP1 Thr54Ser T54S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK308310 Ile205Thr I205T not reviewed Insufficiently evaluated not reviewed unknown Array rs61730185 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GYLTL1B Cys5Tyr C5Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61745747 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8U8 AlaLeuAspThr267SerLeuAspAla ALDT267SLDA not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNK4 Cys80Arg C80R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RASGRP2 Arg130Lys R130K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EHBP1L1 Pro396Gln P396Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - TSGA10IP Gly538Ser G538S not reviewed Insufficiently evaluated not reviewed unknown Array 368 9798 0.0375587 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX746604 Asn27Ser N27S not reviewed Insufficiently evaluated not reviewed unknown Array rs10791840 23 128 0.179688 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACTN3 Glu634Ala E634A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229456 1612 10248 0.157299 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ACTN3 Glu855Leu E855L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF80 Ile388Thr I388T not reviewed Insufficiently evaluated not reviewed unknown Array 57 9540 0.00597484 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF76 Arg55Gln R55Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC036226 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array rs12818448 14 126 0.111111 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NANOGP1 Gln136Glu Q136E not reviewed Insufficiently evaluated not reviewed unknown Array rs57514166 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - EU095394 Glu139Gln E139Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_006611 Ser41Pro S41P not reviewed Insufficiently evaluated not reviewed unknown Array rs1124164 23 128 0.179688 14 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C12ORF67 Gly65Glu G65E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR4A1 His14Arg H14R not reviewed Insufficiently evaluated not reviewed unknown Array rs2603753 520 10758 0.0483361 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A5 Arg242Gln R242Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.745 - - 0 - 1 N - - CR613142 Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX54 AspGluIleProTyrLeuLeuAspLeuHisLeuPheLeu445Del DEIPYLLDLHLFL445Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RAB35 Gly183Arg G183R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAB35 Arg32His R32H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747962 Gly105Arg G105R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC153822 LeuLeuLeuLeuLeu7Del LLLLL7Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 72 0.0277778 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC153822 LeuLeu5Pro LL5P not reviewed Insufficiently evaluated not reviewed unknown Array rs57331962 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR594591 Thr53Ala T53A not reviewed Insufficiently evaluated not reviewed unknown Array 8 118 0.0677966 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C14ORF169 Met594Ile M594I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10092 9.9088e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AX747031 Thr50Ile T50I not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_003543 Gln115His Q115H not reviewed Insufficiently evaluated not reviewed unknown Array 3 64 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AX746996 Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX746996 Gly78Asp G78D not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PATL2 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNB5 Gln19Arg Q19R not reviewed Insufficiently evaluated not reviewed unknown Array rs34059787 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HSP90AB4P Ser138Gly S138G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC006530 Asn82Thr N82T not reviewed Insufficiently evaluated not reviewed unknown Array rs35073501 3 110 0.0272727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMC3 Arg967Trp R967W not reviewed Insufficiently evaluated not reviewed unknown Array 70 9504 0.00736532 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NPRL3 Ala495Thr A495T not reviewed Insufficiently evaluated not reviewed unknown Array rs58036849 119 10672 0.0111507 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF434 Gln19Lys Q19K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC016019 Met88Leu M88L not reviewed Insufficiently evaluated not reviewed unknown Array rs28406481 10 128 0.078125 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CR597135 Ala180Thr A180T not reviewed Insufficiently evaluated not reviewed unknown Array 9 126 0.0714286 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_018690 Glu61Ala E61A not reviewed Insufficiently evaluated not reviewed unknown Array rs28460286 466 10036 0.0464328 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - NM_018690 Arg174Gly R174G not reviewed Insufficiently evaluated not reviewed unknown Array rs28576169 480 10610 0.0452403 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.798 - - 6 Y 1 N - - NM_018690 Pro215Arg P215R not reviewed Insufficiently evaluated not reviewed unknown Array 522 10556 0.0494506 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.6 - - 5 Y 1 N - - NM_018690 Gln684Arg Q684R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753940 533 10238 0.052061 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIF22 Ser357Thr S357T not reviewed Insufficiently evaluated not reviewed unknown Array 398 10750 0.0370233 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - BC037579 His65Arg H65R not reviewed Insufficiently evaluated not reviewed unknown Array rs2549261 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Leu2094Pro L2094P not reviewed Insufficiently evaluated not reviewed unknown Array 41 10158 0.00403623 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFPM1 Lys204Del K204Del not reviewed Insufficiently evaluated not reviewed unknown Array rs57580812 10 122 0.0819672 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - FAM38A Val825Ile V825I not reviewed Insufficiently evaluated not reviewed unknown Array rs34606201 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AF329694 Asp35Tyr D35Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK096645 Ser44Asn S44N not reviewed Insufficiently evaluated not reviewed unknown Array rs8076120 13 128 0.101562 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MEIS3P1 Arg33Cys R33C not reviewed Insufficiently evaluated not reviewed unknown Array rs560500 17 56 0.303571 5 0 10 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 1 N - - BC050323 Thr861Ile T861I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO15A Arg2260His R2260H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ACSF2 Gly19Trp G19W not reviewed Insufficiently evaluated not reviewed unknown Array 149 10514 0.0141716 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - C17ORF64 Pro42Leu P42L not reviewed Insufficiently evaluated not reviewed unknown Array rs57928695 22 128 0.171875 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MRPL38 Asp337His D337H not reviewed Insufficiently evaluated not reviewed unknown Array rs9191 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPL38 Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array rs34136221 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF52 Ala75Asp A75D not reviewed Insufficiently evaluated not reviewed unknown Array rs72631399 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C17ORF52 Arg95Thr R95T not reviewed Insufficiently evaluated not reviewed unknown Array 8 124 0.0645161 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BAHCC1 Asp748Glu D748E not reviewed Insufficiently evaluated not reviewed unknown Array 211 8782 0.0240264 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK127888 Arg97Gly R97G not reviewed Insufficiently evaluated not reviewed unknown Array rs9957698 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AF303374 Lys130Arg K130R not reviewed Insufficiently evaluated not reviewed unknown Array rs9952339 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF271 Glu310Lys E310K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF271 Lys335Glu K335E not reviewed Insufficiently evaluated not reviewed unknown Array rs56085501 969 10758 0.0900725 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SERPINBP1 Leu102Phe L102F not reviewed Insufficiently evaluated not reviewed unknown Array rs61741551 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLK5P Met284Val M284V not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Asn431His N431H not reviewed Insufficiently evaluated not reviewed unknown Array rs57042059 195 10122 0.019265 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - PRR22 Pro180Leu P180L not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - PRR22 Pro3Leu P3L not reviewed Insufficiently evaluated not reviewed unknown Array rs59904063 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 1 N - - KANK3 Glu674Del E674Del not reviewed Insufficiently evaluated not reviewed unknown Array rs35345733 21 128 0.164062 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AY203940 Arg155Gln R155Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7249069 2 98 0.0204082 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Thr7284Ala T7284A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10042 0.00368452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC125186 Pro406Ala P406A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - BC125186 Val658Ile V658I not reviewed Insufficiently evaluated not reviewed unknown Array rs55703333 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - UNC13A Asp102Tyr D102Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 5412 0.000369549 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1683 Gly68Arg G68R not reviewed Insufficiently evaluated not reviewed unknown Array rs12462174 19 128 0.148438 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MEF2B Pro110Leu P110L not reviewed Insufficiently evaluated not reviewed unknown Array rs61115485 8 128 0.0625 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK126639 Val32Gly V32G not reviewed Insufficiently evaluated not reviewed unknown Array 212 10758 0.0197063 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_003128 Glu14Asp E14D not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF826P Ile141Thr I141T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - ZNF676 Ala373Gly A373G not reviewed Insufficiently evaluated not reviewed unknown Array rs76256581 11 124 0.0887097 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF181 Ala181Val A181V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR42P Val227Leu V227L not reviewed Insufficiently evaluated not reviewed unknown Array rs403989 21 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC007817 Asp60Ala D60A not reviewed Insufficiently evaluated not reviewed unknown Array rs2267586 14 128 0.109375 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PLEKHG2 Arg1251Trp R1251W not reviewed Insufficiently evaluated not reviewed unknown Array rs36038883 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP2F1 Val175Arg V175R not reviewed Insufficiently evaluated not reviewed unknown Array rs2287941 13 122 0.106557 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF526 Glu252Del E252Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC034980 Arg413Cys R413C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BCL3 Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC114 Ala314Thr A314T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC114 Ala292Ser A292S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747754 7 82 0.0853659 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SIGLEC11 Ala353Gly A353G not reviewed Insufficiently evaluated not reviewed unknown Array rs62113133 12 98 0.122449 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF577 Ala77Val A77V not reviewed Insufficiently evaluated not reviewed unknown Array rs17856123 14 128 0.109375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK127846 Gln9Arg Q9R not reviewed Insufficiently evaluated not reviewed unknown Array rs1661904 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK127846 Val181Ala V181A not reviewed Insufficiently evaluated not reviewed unknown Array rs1661903 8 128 0.0625 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OSCAR Pro155Ser P155S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742140 234 10544 0.0221927 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB3 GluPro618ProSer EP618PS not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LILRA2 His25Ile H25I not reviewed Insufficiently evaluated not reviewed unknown Array rs1834698 7 128 0.0546875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NLRP2 Glu522Gly E522G not reviewed Insufficiently evaluated not reviewed unknown Array rs61735083 4 124 0.0322581 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.07 - - 6 Y 0 N - - BC025349 Ala49Ser A49S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC30A3 Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array rs13390228 1668 10758 0.155047 15 0 20 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CAPN14 Arg234Gly R234G not reviewed Insufficiently evaluated not reviewed unknown Array rs7587515 16 128 0.125 13 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MYADML Pro25Thr P25T not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR624999 Met61Ile M61I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR624999 Gly194Arg G194R not reviewed Insufficiently evaluated not reviewed unknown Array rs59553910 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD53 LysPro372Del KP372Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_002826 Ile203Phe I203F not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC068242 Lys205Thr K205T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR603438 Met74Val M74V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPBAR1 Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP40 Ala1015Thr A1015T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736676 4 126 0.031746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP40 Met806Ile M806I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP40 Tyr90Asn Y90N not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRNT Thr50Ser T50S not reviewed Insufficiently evaluated not reviewed unknown Array rs7270737 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ASXL1 Lys837Arg K837R not reviewed Insufficiently evaluated not reviewed unknown Array rs35632616 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF144 GlnGluAlaArgArg102Del QEARR102Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FER1L4 Glu275Lys E275K not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-5 Ala244Val A244V not reviewed Insufficiently evaluated not reviewed unknown Array rs35572546 3 98 0.0306122 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_199175 Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array rs2838920 19 128 0.148438 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CECR2 Pro491Leu P491L not reviewed Insufficiently evaluated not reviewed unknown Array rs1296794 1361 9860 0.138032 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - USP41 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61741937 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK094490 Arg85Gly R85G not reviewed Insufficiently evaluated not reviewed unknown Array rs462983 30 30 1 9 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AJ318021 Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array rs382768 5 48 0.104167 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - APOL4 Arg258Leu R258L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CU012959 Val46Ile V46I not reviewed Insufficiently evaluated not reviewed unknown Array rs73885869 9 128 0.0703125 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GTSE1 Ala635Thr A635T not reviewed Insufficiently evaluated not reviewed unknown Array rs16995138 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TRMU Leu4Val L4V not reviewed Insufficiently evaluated not reviewed unknown Array 173 10032 0.0172448 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C22ORF34 Thr145Ser T145S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SBF1 Thr1821Ala T1821A not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - FBLN2 Asn387Thr N387T not reviewed Insufficiently evaluated not reviewed unknown Array rs3796318 1187 10460 0.11348 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM198A Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746173 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC12 Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array rs33983156 6 128 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DOCK3 Lys1277Arg K1277R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LMOD3 Leu14Del L14Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM86DP Ser190Ala S190A not reviewed Insufficiently evaluated not reviewed unknown Array rs7430363 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR5H14 Ser107Gly S107G not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5H14 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - BC101231 Arg66Gly R66G not reviewed Insufficiently evaluated not reviewed unknown Array 14 124 0.112903 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC101231 Thr113Asn T113N not reviewed Insufficiently evaluated not reviewed unknown Array 6 122 0.0491803 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RYK Ser95Asn S95N not reviewed Insufficiently evaluated not reviewed unknown Array rs1131262 1206 9722 0.124049 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LEKR1 Arg320Ser R320S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.046 - - 3 - 0 N - - NM_032487 Gln117Leu Q117L not reviewed Insufficiently evaluated not reviewed unknown Array rs35419455 462 10758 0.0429448 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 1 N - - BX648496 Val51Ile V51I not reviewed Insufficiently evaluated not reviewed unknown Array rs66486845 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK057553 Ala40Thr A40T not reviewed Insufficiently evaluated not reviewed unknown Array rs56170658 10 102 0.0980392 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK124973 Gly76Arg G76R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSAPL1 Pro98Ser P98S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733528 15 128 0.117188 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX746755 Ser276Pro S276P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX746755 Asp77Gly D77G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX746755 Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX746755 Thr74Ile T74I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK308144 Asn952Ser N952S not reviewed Insufficiently evaluated not reviewed unknown Array rs16895365 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - AK308144 Ser542Leu S542L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742649 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - SEPSECS Lys392Asn K392N not reviewed Insufficiently evaluated not reviewed unknown Array rs2302566 13 128 0.101562 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SHROOM3 Asn1971Asp N1971D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741100 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HERC6 Ser208Arg S208R not reviewed Insufficiently evaluated not reviewed unknown Array rs28435459 13 128 0.101562 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BC040304 Asn97Ser N97S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH3D19 Met411Thr M411T not reviewed Insufficiently evaluated not reviewed unknown Array rs72965663 11 128 0.0859375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VEGFC Met419Del M419Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3062984 126 128 0.984375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SORBS2 Pro896Ile P896I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001001702 Stop131Arg X131R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DQ579214 Phe21Leu F21L not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_173800 Val936Ile V936I not reviewed Insufficiently evaluated not reviewed unknown Array rs17138681 286 10746 0.0266146 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C5ORF47 Stop177Leu X177L not reviewed Insufficiently evaluated not reviewed unknown Array 3 3220 0.000931677 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX747210 Glu135Lys E135K not reviewed Insufficiently evaluated not reviewed unknown Array rs7769621 8 120 0.0666667 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CMAH Ile87Val I87V not reviewed Insufficiently evaluated not reviewed unknown Array rs1046141 6 128 0.046875 6 0 6 1 1 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - This is a pseudogene; variants are of no consequence. AF352327 Cys101Trp C101W not reviewed Insufficiently evaluated not reviewed unknown Array rs16897710 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HLA-C Ala35Ser A35S not reviewed Insufficiently evaluated not reviewed unknown Array rs1050445 25 7376 0.00338937 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NOTCH4 Leu16Del L16Del not reviewed Insufficiently evaluated not reviewed unknown Array rs28359855 1 18 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - HLA-DPA1 Met62Gln M62Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36013091 41 128 0.320312 26 0 26 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C6ORF227 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10684 9.3597e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPARD AlaPro26LeuAla AP26LA not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCC10 Thr1238Ile T1238I not reviewed Insufficiently evaluated not reviewed unknown Array rs6901992 162 10750 0.0150698 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAPN11 Leu105Pro L105P not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAPN11 Val229Met V229M not reviewed Insufficiently evaluated not reviewed unknown Array rs6938938 20 128 0.15625 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRDM1 Gly735Asp G735D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX747618 Gln2Arg Q2R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC047626 Pro72Leu P72L not reviewed Insufficiently evaluated not reviewed unknown Array rs13437357 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001099267 Ser64Gly S64G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSTCL Ile93Thr I93T not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OSTCL Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array rs16900991 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FNDC1 ThrArgArgThrThrThr1479Del TRRTTT1479Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3842694 68 88 0.772727 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AK027618 Pro666Ala P666A not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH11 Leu2331Val L2331V not reviewed Insufficiently evaluated not reviewed unknown Array 19 9746 0.00194952 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - DNAH11 Thr3471Ile T3471I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10012 0.00259688 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Leu4131Val L4131V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9632 0.000830564 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - CLK2P Pro271Leu P271L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRGV5 Asp141Asn D141N not reviewed Insufficiently evaluated not reviewed unknown Array rs73357287 6 102 0.0588235 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ABCA13 Ile1243Val I1243V not reviewed Insufficiently evaluated not reviewed unknown Array rs73697120 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ABCA13 Val4427Leu V4427L not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF138 Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737641 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SRCRB4D Gly7Arg G7R not reviewed Insufficiently evaluated not reviewed unknown Array rs10227141 16 128 0.125 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C7ORF63 Gly844Arg G844R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERVWE1 Leu167Pro L167P not reviewed Insufficiently evaluated not reviewed unknown Array 4 82 0.0487805 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.905 - - 7 Y 2 N - - TECPR1 SerTrp1070ArgArg SW1070RR not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Val2394Ile V2394I not reviewed Insufficiently evaluated not reviewed unknown Array 59 9900 0.0059596 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC3A Ala150Ser A150S not reviewed Insufficiently evaluated not reviewed unknown Array rs112386500 502 4586 0.109464 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC3A Ala204Gly A204G not reviewed Insufficiently evaluated not reviewed unknown Array 476 4586 0.103794 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC3A Pro343Leu P343L not reviewed Insufficiently evaluated not reviewed unknown Array 3 4586 0.000654164 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC3A Thr772Asn T772N not reviewed Insufficiently evaluated not reviewed unknown Array 76 4586 0.0165722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC032716 Met89Thr M89T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK098276 His125Gln H125Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6968325 5 126 0.0396825 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR_001296 Thr103Ile T103I not reviewed Insufficiently evaluated not reviewed unknown Array rs57725689 3 106 0.0283019 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NR_001296 Lys182Asn K182N not reviewed Insufficiently evaluated not reviewed unknown Array rs59320698 3 106 0.0283019 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACTR3B Gln121Arg Q121R not reviewed Insufficiently evaluated not reviewed unknown Array rs28634863 297 3234 0.0918367 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRC61 His18Arg H18R not reviewed Insufficiently evaluated not reviewed unknown Array rs73472382 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRRC61 Gly21Arg G21R not reviewed Insufficiently evaluated not reviewed unknown Array rs73472384 6 128 0.046875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC4A2 GluAla202Del EA202Del not reviewed Insufficiently evaluated not reviewed unknown Array rs2229551 4 120 0.0333333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AB209502 Ser2866Asn S2866N not reviewed Insufficiently evaluated not reviewed unknown Array rs11984691 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RP1L1 GluGlyThrGluGly1308ThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGluGlyThrLys EGTEG1308TEEGLQEEGVQLEGTK not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF49 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8ORF49 Leu133Arg L133R not reviewed Insufficiently evaluated not reviewed unknown Array rs73663003 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF49 Phe135Val F135V not reviewed Insufficiently evaluated not reviewed unknown Array rs73663004 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX746881 Arg35Ser R35S not reviewed Insufficiently evaluated not reviewed unknown Array rs4440593 21 56 0.375 9 0 17 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AX746881 Asp196Gly D196G not reviewed Insufficiently evaluated not reviewed unknown Array rs11784716 8 8 1 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CSGALNACT1 Val135Ile V135I not reviewed Insufficiently evaluated not reviewed unknown Array rs17128518 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NEFM Pro499Gln P499Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXO16 MetThr254IleAsn MT254IN not reviewed Insufficiently evaluated not reviewed unknown Array rs7016831 9 128 0.0703125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GPR124 Cys1077Ser C1077S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VCPIP1 GlyGlyThr1165Del GGT1165Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFHX4 Ala1594Val A1594V not reviewed Insufficiently evaluated not reviewed unknown Array rs28376707 256 9892 0.0258795 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_002304 Ser335Pro S335P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_207414 Arg144Trp R144W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10174 0.000196579 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK124079 Gly32Trp G32W not reviewed Insufficiently evaluated not reviewed unknown Array rs7831467 15 104 0.144231 15 0 17 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZDHHC21 Ala44Val A44V not reviewed Insufficiently evaluated not reviewed unknown Array rs71476227 16 42 0.380952 12 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CR613032 Ser25Leu S25L not reviewed Insufficiently evaluated not reviewed unknown Array rs2778377 4 104 0.0384615 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF174 Pro301His P301H not reviewed Insufficiently evaluated not reviewed unknown Array rs7864805 483 10758 0.0448968 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_207299 Ser12Ala S12A not reviewed Insufficiently evaluated not reviewed unknown Array rs41296085 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.529 - - -1 - 1 N - - ABO Arg175Gly R175G not reviewed Insufficiently evaluated not reviewed unknown Array rs7853989 1138 10290 0.110593 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GTPBP6 Arg270Ser R270S not reviewed Insufficiently evaluated not reviewed unknown Array 518 10266 0.0504578 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZBED1 AlaVal111GlyLeu AV111GL not reviewed Insufficiently evaluated not reviewed unknown Array 1 51 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_002308 Tyr56His Y56H not reviewed Insufficiently evaluated not reviewed unknown Array rs2077257 15 92 0.163043 10 0 16 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NR_002308 Ala25Val A25V not reviewed Insufficiently evaluated not reviewed unknown Array rs2009742 15 92 0.163043 10 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NHSL2 Thr670Ile T670I not reviewed Insufficiently evaluated not reviewed unknown Array rs7061150 15 92 0.163043 11 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR591764 Gln55His Q55H not reviewed Insufficiently evaluated not reviewed unknown Array rs5959744 28 92 0.304348 23 0 41 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CR591764 Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744954 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMAT1 Arg271Lys R271K not reviewed Insufficiently evaluated not reviewed unknown Array rs17282855 6 92 0.0652174 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.307 - - -3 - 0 N - - GLRA4 Ile354Val I354V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744012 4 92 0.0434783 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLRA4 Arg65Cys R65C not reviewed Insufficiently evaluated not reviewed unknown Array rs16984014 11 92 0.119565 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM45B Pro314Gln P314Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72545880 2 21 0.0952381 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR622587 Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array 8 82 0.097561 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLCN6 Gly496Shift G496Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 2 N - - NBPF3 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLSPN Thr467Shift T467Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYDE2 Met1142Shift M1142Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PI4KB Phe386Shift F386Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 100 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNPO2L Pro708Shift P708Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3812629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C10ORF137 Ser1100Shift S1100Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - H19 Thr25Met T25M not reviewed Insufficiently evaluated not reviewed unknown Array rs11564733 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ATM Leu663Shift L663Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 3 Y - - 0 Y - - 5 Y 3 Y Y - - - - Y Y 4 Y 4 N 2 0 Variants in this gene are reported to cause Ataxia-telangiectasia. This one base insertion, which causes a frameshift starting at amino acid 663, is predicted to have a loss of function effect, causing this disease in a recessive manner. Symptoms manifest in early childhood and is usually fatal by early adulthood. Carriers of some loss-of-function ATM variants are reported to be at significant increased risk of breast cancer. BEST3 Lys59Shift K59Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PPP1R12A Arg682Shift R682Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RNASEH2B Ile309Shift I309Shift benign Low clinical importance, Uncertain benign undefined Array 3 128 0.0234375 1 0 1 1 1 ! Y - - 4 Y - - - - - - Y - - - - Y Y 4 Y 4 N 0 0 This variant is predicted to be highly disruptive. Although other disruptive variants in this gene are reported to cause Aicardi-Goutieres syndrome in a recessive manner (a rare, fatal childhood disease), those variants were upstream of this position, and this variant is too common to be consistent with causing that disease (2% allele frequency). Based on this, it is tentatively evaluated as benign. PAX9 Thr199ThrValThr T199TVT not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - C14ORF183 Gly69Shift G69Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEL1L His766Shift H766Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Ser272Ala S272A not reviewed Insufficiently evaluated not reviewed unknown Array rs61744880 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - AK056814 Cys222Shift C222Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34613944 12 100 0.12 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDK10 Phe135Shift F135Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TOM1L1 Phe447Shift F447Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DCXR His195Shift H195Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRMT1 Cys103Shift C103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C2ORF49 Asp4Shift D4Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Val33179Ala V33179A not reviewed Insufficiently evaluated not reviewed unknown Array rs16866378 17 128 0.132812 15 0 16 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TTN Val30950Ile V30950I not reviewed Insufficiently evaluated not reviewed unknown Array rs2278196 13 128 0.101562 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Ile30145Phe I30145F not reviewed Insufficiently evaluated not reviewed unknown Array rs72648270 9 128 0.0703125 7 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TTN Val25296Ala V25296A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser22871Asn S22871N not reviewed Insufficiently evaluated not reviewed unknown Array rs3813243 13 126 0.103175 11 0 12 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Gln22388His Q22388H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Ser20649Gly S20649G not reviewed Insufficiently evaluated not reviewed unknown Array rs72646885 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala20243Pro A20243P not reviewed Insufficiently evaluated not reviewed unknown Array rs72646880 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SLC19A1 Leu90Shift L90Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APOBEC3G Asn302Shift N302Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - QTRTD1 Leu144Shift L144Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PARP15 Arg463Shift R463Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEC62 Lys26Shift K26Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs9290379 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CPN2 Trp509Gln W509Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4974538 18 114 0.157895 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - UBA6 Tyr523Stop Y523X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNPO2 Gln832Shift Q832Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC039102 Ile95Shift I95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSD17B4 Gly11Asp G11D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - RAPGEF6 Gln1597Shift Q1597Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBXL21 Asn31Shift N31Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35444976 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IFNGR1 Tyr185Shift Y185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - MYCT1 Asp22Shift D22Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3841162 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C7ORF69 Val112Shift V112Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C7ORF63 Leu574Shift L574Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZAN Phe2344Shift F2344Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72364644 19 104 0.182692 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS13B Trp2474Shift W2474Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 128 0.0078125 1 0 1 0 0 3 Y - - 0 Y - - 4 - 1 - Y - - - - Y Y 4 Y 4 N 2 0 This variant is a one base deletion predicted to cause a frameshift in VPS13B. Other loss of function variants in this gene are reported to cause Cohen syndrome in a recessive manner, a rare genetic disorder causing obesity, mental retardation and craniofacial dysmorphism. This variant would be predicted to have the same effect if homozygous or compound heterozygous with another disruptive variant. NCRNA00255 Pro39Shift P39Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs28365847 1 80 0.0125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PHF2 Asn544Shift N544Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SVEP1 Arg1186Shift R1186Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C9ORF173 Leu44Shift L44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC033082 Ala59Val A59V not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK309106 Pro68Ala P68A not reviewed Insufficiently evaluated not reviewed unknown Array rs41300110 913 10758 0.0848671 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MACF1 Thr4560Ala T4560A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF643 Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 2 - 2 N - - IFI44L Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array rs34932081 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC034233 Ile102Val I102V not reviewed Insufficiently evaluated not reviewed unknown Array rs2366125 34 128 0.265625 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NUDT17 CysLysSer300Gly CKS300G not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRRC2C Asn343Lys N343K not reviewed Insufficiently evaluated not reviewed unknown Array rs36013361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARID4B Glu553Del E553Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10588817 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2M3 Stop313Arg X313R not reviewed Insufficiently evaluated not reviewed unknown Array rs41304018 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HNRNPF Val27Phe V27F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 3 - 1 N - - PIPSL Pro101Leu P101L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM45B His218Tyr H218Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC5AC Gln358Glu Q358E not reviewed Insufficiently evaluated not reviewed unknown Array rs55863018 68 4564 0.0148992 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5AC Thr2053Met T2053M not reviewed Insufficiently evaluated not reviewed unknown Array rs12363494 102 10220 0.00998043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Gly2498Ser G2498S not reviewed Insufficiently evaluated not reviewed unknown Array rs1541314 534 10068 0.0530393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC5AC Ala5189Thr A5189T not reviewed Insufficiently evaluated not reviewed unknown Array rs3021155 560 10514 0.0532623 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5AC Thr5204Ala T5204A not reviewed Insufficiently evaluated not reviewed unknown Array rs3021156 558 10540 0.0529412 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC5AC Pro5217Ser P5217S not reviewed Insufficiently evaluated not reviewed unknown Array rs56159668 73 10564 0.00691026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMTNL1 Arg360Trp R360W not reviewed Insufficiently evaluated not reviewed unknown Array 7 9604 0.000728862 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMPRSS5 Met388Thr M388T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC035635 His49Pro H49P not reviewed Insufficiently evaluated not reviewed unknown Array rs71441736 21 50 0.42 7 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SLC2A13 Thr383Ile T383I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC39A5 Ser373Thr S373T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.893 - - -2 - 2 N - - PITPNM2 Leu511Pro L511P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - NM_001083900 Val3346Leu V3346L not reviewed Insufficiently evaluated not reviewed unknown Array rs73424836 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EP400NL Leu467Phe L467F not reviewed Insufficiently evaluated not reviewed unknown Array 121 3234 0.037415 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX51 Gln295Trp Q295W not reviewed Insufficiently evaluated not reviewed unknown Array rs1133690 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CR594591 His72Asn H72N not reviewed Insufficiently evaluated not reviewed unknown Array 10 98 0.102041 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERC2P3 Lys326Glu K326E not reviewed Insufficiently evaluated not reviewed unknown Array rs295740 18 48 0.375 10 0 19 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_032802 Asn126Asp N126D not reviewed Insufficiently evaluated not reviewed unknown Array rs61751063 250 10676 0.023417 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - CSPG4 Pro1599Thr P1599T not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 4 Y 2 N - - BC020234 His193Gln H193Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10468219 12 128 0.09375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - BC020234 Ile83Asn I83N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001101346 Ser60Ile S60I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRPV1 Arg802Gly R802G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC050323 Glu118Lys E118K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAP1 Thr493Met T493M not reviewed Insufficiently evaluated not reviewed unknown Array rs4523977 21 128 0.164062 11 0 13 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 0 N - - MYCBPAP Ser136Asn S136N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - 0 - 1 N - - SDK2 Thr1177Met T1177M not reviewed Insufficiently evaluated not reviewed unknown Array rs35467001 8 128 0.0625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RNF213 Ala2472Thr A2472T not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BX649021 Gln198Glu Q198E not reviewed Insufficiently evaluated not reviewed unknown Array 6 112 0.0535714 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BX649021 Gly199Arg G199R not reviewed Insufficiently evaluated not reviewed unknown Array 5 114 0.0438596 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALPK2 Thr875Pro T875P not reviewed Insufficiently evaluated not reviewed unknown Array rs56390741 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - SERPINBP1 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBXA2R Ser351Pro S351P not reviewed Insufficiently evaluated not reviewed unknown Array rs34486470 7 118 0.059322 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLIN4 CysSer819ThrThr CS819TT not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC032415 Gly80Ser G80S not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NWD1 Gly9Arg G9R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF826P Leu82Phe L82F not reviewed Insufficiently evaluated not reviewed unknown Array rs45515503 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF493 Arg257Val R257V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF780A Lys358Arg K358R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LILRB3 Asn290His N290H not reviewed Insufficiently evaluated not reviewed unknown Array rs437256 15 28 0.535714 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AB290165 Tyr207Cys Y207C not reviewed Insufficiently evaluated not reviewed unknown Array rs17025409 6 128 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AB290165 Lys947Arg K947R not reviewed Insufficiently evaluated not reviewed unknown Array rs61750773 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NCKAP5 Pro931Ser P931S not reviewed Insufficiently evaluated not reviewed unknown Array 3 86 0.0348837 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - TTN Pro32684Leu P32684L not reviewed Insufficiently evaluated not reviewed unknown Array rs16866380 14 128 0.109375 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - TTN Gly31701Val G31701V not reviewed Insufficiently evaluated not reviewed unknown Array rs3731752 14 128 0.109375 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - CCDC141 Glu688Lys E688K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.37 - - 0 - 1 N - - NM_207482 Gln495Arg Q495R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCL Glu271Del E271Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBM44 Ser311Cys S311C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - KRTAP10-4 Stop402Cys X402C not reviewed Insufficiently evaluated not reviewed unknown Array rs7276273 818 10672 0.0766492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CU013345 Thr53Arg T53R not reviewed Insufficiently evaluated not reviewed unknown Array rs5753105 27 126 0.214286 18 0 21 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CYP2D7P1 Arg275His R275H not reviewed Insufficiently evaluated not reviewed unknown Array rs56127449 12 114 0.105263 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PRR5-ARHGAP8 Glu195Lys E195K not reviewed Insufficiently evaluated not reviewed unknown Array rs55849456 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747493 Met59Thr M59T not reviewed Insufficiently evaluated not reviewed unknown Array rs13088350 39 126 0.309524 25 0 31 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF717 Val899Ile V899I not reviewed Insufficiently evaluated not reviewed unknown Array 22 68 0.323529 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - PVRL3 Cys338Tyr C338Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - AK308144 Gln632Lys Q632K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -2 - 2 N - - NM_001080479 Thr1391Asn T1391N not reviewed Insufficiently evaluated not reviewed unknown Array rs61756686 10 10056 0.000994431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 1 - 1 N - - JMY Pro542Leu P542L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_004845 Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array rs11741016 23 128 0.179688 16 0 18 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NR_004845 Thr46Ala T46A not reviewed Insufficiently evaluated not reviewed unknown Array rs11738780 12 128 0.09375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DQ579214 Ile93Thr I93T not reviewed Insufficiently evaluated not reviewed unknown Array rs35735778 4 108 0.037037 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSD17B4 Arg543Cys R543C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.971 Y - 8 Y 3 N - - AK027578 Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GMCL1L Gly253Ser G253S not reviewed Insufficiently evaluated not reviewed unknown Array rs2961663 19 128 0.148438 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-A Leu180Arg L180R not reviewed Insufficiently evaluated not reviewed unknown Array rs9260155 12 86 0.139535 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - HLA-C Asp33Ser D33S not reviewed Insufficiently evaluated not reviewed unknown Array rs1071650 9 90 0.1 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RDBP AspArg227Del DR227Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM1 Lys152Glu K152E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK124171 Val247Leu V247L not reviewed Insufficiently evaluated not reviewed unknown Array rs1998813 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPY19L2P1 Asp311Gly D311G not reviewed Insufficiently evaluated not reviewed unknown Array rs17205892 9 128 0.0703125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ABCA13 Tyr3796Phe Y3796F not reviewed Insufficiently evaluated not reviewed unknown Array rs17132289 15 126 0.119048 12 0 14 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC3A Thr57Met T57M not reviewed Insufficiently evaluated not reviewed unknown Array rs73714243 2172 4586 0.473615 29 0 29 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC3A His752Asn H752N not reviewed Insufficiently evaluated not reviewed unknown Array rs10258821 6 122 0.0491803 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001085391 Lys114Arg K114R not reviewed Insufficiently evaluated not reviewed unknown Array 11 126 0.0873016 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - AKR1B15 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001089590 Lys14Del K14Del not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NM_001089590 Cys26Gly C26G not reviewed Insufficiently evaluated not reviewed unknown Array 6 116 0.0517241 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AB306208 Leu138Pro L138P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX747124 Met14Ile M14I not reviewed Insufficiently evaluated not reviewed unknown Array rs2618844 9 126 0.0714286 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PRKDC Ile3433Thr I3433T not reviewed Insufficiently evaluated not reviewed unknown Array rs7830743 1156 9674 0.119496 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CSPP1 Pro1195Ser P1195S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10392 0.00086605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFHX4 Arg2853His R2853H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 1 - 2 N - - EPPK1 Leu2162Phe L2162F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPPK1 Ala1094Thr A1094T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_182635 Leu123Pro L123P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - AL834139 Arg789Cys R789C not reviewed Insufficiently evaluated not reviewed unknown Array rs7025670 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TEX13A AlaMet207ValVal AM207VV not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCK9 Arg46Leu R46L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SAMD11 Pro228Shift P228Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001127577 Phe71Shift F71Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX748204 Asn62Shift N62Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AL157420 Phe154Shift F154Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59591825 5 12 0.416667 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AL157420 Val126Shift V126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 116 0.0344828 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP4A22 Gln50Shift Q50Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NRD1 Lys1219Shift K1219Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001093732 Arg100Stop R100X not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG Asn969Ser N969S not reviewed Insufficiently evaluated not reviewed unknown Array rs3120651 4 122 0.0327869 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RHBG Arg425Shift R425Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60769529 50 124 0.403226 27 0 27 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - F5 Lys2185Arg K2185R not reviewed Insufficiently evaluated not reviewed unknown Array rs6679078 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - F5 His1282Arg H1282R not reviewed Insufficiently evaluated not reviewed unknown Array rs34772474 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - F5 Glu1054Asp E1054D not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - F5 His710Arg H710R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CFH Thr1017Ile T1017I not reviewed Insufficiently evaluated not reviewed unknown Array rs34362004 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.044 Y Y 3 - 2 N - - IPO9 Ala2Shift A2Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PSEN2 Ala252Thr A252T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.064 Y Y 1 - 2 N - - AGT Val385Ala V385A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731499 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 2 - 2 N - - CHAT Leu249Val L249V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 0 - 2 N - - PCDH15 Thr1869Del T1869Del not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - NUDT13 Lys330Shift K330Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11381190 10 128 0.078125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TH Arg508Cys R508C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.704 Y Y 8 Y 3 N - - ZNF195 Pro421Shift P421Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMPD1 AlaLeuAlaLeuAlaLeu44Del ALALAL44Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SMPD1 Thr588Met T588M not reviewed Insufficiently evaluated not reviewed unknown Array rs35785620 168 10758 0.0156163 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - C11ORF16 Ile459Shift I459Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10583719 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYBPC3 Ala522Thr A522T not reviewed Insufficiently evaluated not reviewed unknown Array rs11570082 14 10608 0.00131976 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SMTNL1 Arg407Stop R407X not reviewed Insufficiently evaluated not reviewed unknown Array 22 10012 0.00219736 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC15A3 Arg279Stop R279X not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DAK Gly290Shift G290Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPTBN2 Arg1483Cys R1483C not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.976 Y - 8 Y 3 N - - IGHMBP2 Gly676Arg G676R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - DHCR7 Pro335Arg P335R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.133 Y Y 5 Y 2 N - - ATM Gly514Asp G514D not reviewed Insufficiently evaluated not reviewed unknown Array rs2235000 243 10756 0.022592 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ATM His1380Tyr H1380Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3092856 281 10756 0.026125 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - C11ORF71 Tyr19Stop Y19X not reviewed Insufficiently evaluated not reviewed unknown Array 99 10734 0.00922303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDON Gly1211Stop G1211X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLSTN3 Arg483Shift R483Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TAS2R8 Glu16Stop E16X not reviewed Insufficiently evaluated not reviewed unknown Array rs41324347 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AX746911 Leu27Stop L27X not reviewed Insufficiently evaluated not reviewed unknown Array rs74092804 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT83 Gly471Asp G471D not reviewed Insufficiently evaluated not reviewed unknown Array 163 10734 0.0151854 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - KRT4 Arg514Cys R514C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - AK096472 Met108Shift M108Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR6C3 Cys166Shift C166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM109A Ala74Shift A74Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF140 Tyr441Stop Y441X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SACS Ile3632Met I3632M not reviewed Insufficiently evaluated not reviewed unknown Array rs35256065 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.643 Y Y -1 - 3 N - - CENPJ Leu941Shift L941Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 3 N - - EPSTI1 Tyr188Stop Y188X not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RB1 AlaAlaAla16Del AAA16Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PCDH8 Glu860Shift E860Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYCBP2 Ala3535Shift A3535Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ866763 Thr56Shift T56Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67864865 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4Q3 Gln160Stop Q160X not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DHRS4L1 Arg122Shift R122Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C14ORF182 Leu8Shift L8Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PYGL Arg321His R321H not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SPTB Ser1645Shift S1645Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HEATR4 Arg738Stop R738X not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HERC2P3 Phe1139Shift F1139Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Asp623Asn D623N not reviewed Insufficiently evaluated not reviewed unknown Array rs61166152 148 10140 0.0145957 5 0 5 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - FMN1 Cys556Gly C556G not reviewed Insufficiently evaluated not reviewed unknown Array rs61746221 9 128 0.0703125 10 0 10 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 2 N - - SLC12A6 Thr483Ile T483I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y 3 - 4 N - - CAPN3 Ala160Gly A160G not reviewed Insufficiently evaluated not reviewed unknown Array rs17592 185 10758 0.0171965 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.961 Y Y 1 - 4 N - - STARD9 Glu706Stop E706X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DUOX2 Leu171Pro L171P not reviewed Insufficiently evaluated not reviewed unknown Array 41 10504 0.00390327 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MESP2 Ala66Gly A66G not reviewed Insufficiently evaluated not reviewed unknown Array rs71647809 141 6558 0.0215005 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.509 Y Y 1 - 3 N - - PKD1 Trp1399Arg W1399R not reviewed Insufficiently evaluated not reviewed unknown Array 386 10734 0.0359605 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.031 Y Y 7 Y 2 N - - ABCC1 Asp17Shift D17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCC6 Ile319Val I319V not reviewed Insufficiently evaluated not reviewed unknown Array rs72657699 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - NM_030941 Trp85Stop W85X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SULT1A2 Tyr149Shift Y149Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNGB1 Glu371GluGlu E371EE not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CDH1 Lys109Thr K109T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.157 Y Y 3 - 2 N - - BC160930 Cys32Shift C32Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 36 0.0555556 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC160930 Trp260Shift W260Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF107 Trp152Stop W152X not reviewed Insufficiently evaluated not reviewed unknown Array rs35400274 608 3234 0.188002 25 0 28 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PEMT Cys22Shift C22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYO15A Arg1628Cys R1628C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - NM_173624 Ser67Shift S67Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYO18A Thr2045Shift T2045Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRC37BP1 Cys190Shift C190Shift not reviewed Insufficiently evaluated not reviewed unknown Array 12 124 0.0967742 8 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LASP1 Trp57Stop W57X not reviewed Insufficiently evaluated not reviewed unknown Array rs16968526 413 10748 0.0384258 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GFAP Asp114Glu D114E not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -2 - 4 N - - SCN4A Ala204Val A204V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9694 0.000206313 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.865 Y Y 2 - 4 N - - ABCA10 Ile453Shift I453Shift not reviewed Insufficiently evaluated not reviewed unknown Array 15 126 0.119048 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR142 Pro72Shift P72Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59375334 2 128 0.015625 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UNC13D Leu911Arg L911R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.239 Y Y 6 Y 3 N - - DSC2 Asn11Ser N11S not reviewed Insufficiently evaluated not reviewed unknown Array rs868333 225 5584 0.0402937 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AK126293 Gly113Shift G113Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3841258 20 40 0.5 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA7 Arg578Shift R578Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 100 0.03 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JSRP1 Ala87Shift A87Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C3 Gly1224Asp G1224D not reviewed Insufficiently evaluated not reviewed unknown Array rs11569534 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 4 Y 1 N - - ADAMTS10 Ala949Thr A949T not reviewed Insufficiently evaluated not reviewed unknown Array 6 8672 0.000691881 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - NOTCH3 Arg680His R680H not reviewed Insufficiently evaluated not reviewed unknown Array rs10406745 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - COMP Ala171Thr A171T not reviewed Insufficiently evaluated not reviewed unknown Array 197 10638 0.0185185 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ZNF99 His1003Shift H1003Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C19ORF55 Trp87Stop W87X not reviewed Insufficiently evaluated not reviewed unknown Array 65 9934 0.00654319 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SIX5 Val595Met V595M not reviewed Insufficiently evaluated not reviewed unknown Array 183 10698 0.017106 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.125 Y Y 0 - 2 N - - SULT2A1 Ala261Thr A261T not reviewed Insufficiently evaluated not reviewed unknown Array rs11569679 449 10758 0.0417364 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 Y Y 1 - 2 N - - SULT2A1 Ala63Pro A63P not reviewed Insufficiently evaluated not reviewed unknown Array rs11569681 224 10758 0.0208217 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - SIGLECP3 Arg65Stop R65X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF528 Tyr353Stop Y353X not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - XDH Tyr736Shift Y736Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - XDH Asp584Ala D584A not reviewed Insufficiently evaluated not reviewed unknown Array rs45491693 52 10758 0.00483361 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - XDH Lys395Met K395M not reviewed Insufficiently evaluated not reviewed unknown Array rs34929837 241 10758 0.0224019 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.418 Y - 4 Y 2 N - - LHCGR Leu16Gln L16Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4539842 244 4856 0.0502471 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - MCEE Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array 260 10758 0.0241681 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.974 Y Y 1 - 4 N - - DYSF Asp863Ala D863A not reviewed Insufficiently evaluated not reviewed unknown Array rs35884879 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.078 Y Y 5 Y 2 N - - DYSF Arg1095Cys R1095C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - DYSF Asp1459Gly D1459G not reviewed Insufficiently evaluated not reviewed unknown Array rs61738567 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 4 Y 2 N - - ALMS1 Lys3423Asn K3423N not reviewed Insufficiently evaluated not reviewed unknown Array rs34398445 57 9704 0.00587387 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALMS1 Lys3434Glu K3434E not reviewed Insufficiently evaluated not reviewed unknown Array rs34071195 156 9722 0.0160461 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NEB Thr6119Ile T6119I not reviewed Insufficiently evaluated not reviewed unknown Array rs34368668 96 9466 0.0101416 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PLA2R1 Lys652Shift K652Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SP5 Lys292Shift K292Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Val28724Ile V28724I not reviewed Insufficiently evaluated not reviewed unknown Array rs67665715 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Arg27746Lys R27746K not reviewed Insufficiently evaluated not reviewed unknown Array rs11887722 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - TTN Ala25023Thr A25023T not reviewed Insufficiently evaluated not reviewed unknown Array rs11896637 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - TTN Gln24302Lys Q24302K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Gly24246Ala G24246A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ile22414Thr I22414T not reviewed Insufficiently evaluated not reviewed unknown Array rs744427 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile20472Val I20472V not reviewed Insufficiently evaluated not reviewed unknown Array rs72646881 8 126 0.0634921 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Gln19338Lys Q19338K not reviewed Insufficiently evaluated not reviewed unknown Array rs62618736 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Val17145Ala V17145A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Lys3154Arg K3154R not reviewed Insufficiently evaluated not reviewed unknown Array rs4893853 423 10758 0.0393196 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Val1559Ile V1559I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Pro757Leu P757L not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PMS1 Arg689Shift R689Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC150 Glu284Shift E284Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAJB3 Ser126Shift S126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CAPN10 Gln196Shift Q196Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM33 Gln804Shift Q804Shift not reviewed Insufficiently evaluated not reviewed unknown Array 11 126 0.0873016 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - JAG1 Val146Ile V146I not reviewed Insufficiently evaluated not reviewed unknown Array rs6040067 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - KRTAP10-10 Cys105Shift C105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FTCD Lys151Met K151M not reviewed Insufficiently evaluated not reviewed unknown Array 222 10168 0.0218332 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.157 Y - 4 Y 1 N - - MCM3AP-AS1 Thr14Shift T14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCT8L2 Trp365Stop W365X not reviewed Insufficiently evaluated not reviewed unknown Array 274 10758 0.0254694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DEPDC5 Trp1262Stop W1262X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ITPR1 Thr1797Shift T1797Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 3 N - - TPRXL Ser224Shift S224Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCBP2 Pro222Shift P222Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LTF Glu197Shift E197Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNB Ala1286Val A1286V not reviewed Insufficiently evaluated not reviewed unknown Array rs62621997 364 10758 0.0338353 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 2 - 2 N - - ZNF717 Lys784Shift K784Shift not reviewed Insufficiently evaluated not reviewed unknown Array 15 128 0.117188 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PROS1 Arg40Leu R40L not reviewed Insufficiently evaluated not reviewed unknown Array rs7614835 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 3 N - - NM_001093779 Glu109Stop E109X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HGD Glu87Ala E87A not reviewed Insufficiently evaluated not reviewed unknown Array rs35702995 39 10750 0.00362791 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PARP15 Lys658Shift K658Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG3 Phe200Ser F200S not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.153 Y Y 5 Y 2 N - - DOK7 Asp197Asn D197N not reviewed Insufficiently evaluated not reviewed unknown Array rs16844422 250 10754 0.0232472 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.719 Y Y -1 - 3 N - - C4ORF6 Leu24Shift L24Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11426893 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WFS1 Ala602Val A602V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230720 340 10758 0.0316044 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CC2D2A Val388Ile V388I not reviewed Insufficiently evaluated not reviewed unknown Array 9 9730 0.000924974 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - NM_001089595 Lys96Stop K96X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HSD17B13 Trp150Stop W150X not reviewed Insufficiently evaluated not reviewed unknown Array rs61748262 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HERC6 Glu450Shift E450Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MANBA Pro784Arg P784R not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 5 Y 3 N - - CFI His183Arg H183R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.373 Y Y 1 - 3 N - - TCOF1 Ser410Leu S410L not reviewed Insufficiently evaluated not reviewed unknown Array 148 10752 0.0137649 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - KIF4B Ile834Shift I834Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 122 0.0409836 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLT4 Gln441His Q441H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10754 0.00223173 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y -1 - 2 N - - DSP Thr1381Ser T1381S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DTNBP1 Ser305Leu S305L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - HLA-H Arg72Leu R72L not reviewed Insufficiently evaluated not reviewed unknown Array rs7768484 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HLA-H Val92Leu V92L not reviewed Insufficiently evaluated not reviewed unknown Array rs4554349 13 96 0.135417 11 0 15 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - HLA-H SerPro182TrpSer SP182WS not reviewed Insufficiently evaluated not reviewed unknown Array rs1611617 14 102 0.137255 10 0 10 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - HLA-A Gln86Shift Q86Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1059455 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EFHC1 Pro77Thr P77T not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - EFHC1 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.021 Y - 1 - 1 N - - PRIM2 Gly304Stop G304X not reviewed Insufficiently evaluated not reviewed unknown Array rs71214816 126 9936 0.0126812 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SNORA33 Leu92Shift L92Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EYA4 Gly302Asp G302D not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.697 Y Y 4 Y 3 N - - AHI1 Thr60Ala T60A not reviewed Insufficiently evaluated not reviewed unknown Array 38 9652 0.00393701 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 1 - 2 N - - PLAGL1 Glu214Gly E214G not reviewed Insufficiently evaluated not reviewed unknown Array rs34652819 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.931 Y Y 6 Y 4 N - - SYNE1 Gln3609His Q3609H not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.256 Y Y -1 - 3 N - - SYNE1 Ile2779Ser I2779S not reviewed Insufficiently evaluated not reviewed unknown Array 215 10758 0.0199851 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.44 Y Y 5 Y 3 N - - BC112291 Arg173Shift R173Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71742860 14 128 0.109375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001099942 Asn156Shift N156Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5881927 16 68 0.235294 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK027618 Gln670Shift Q670Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCB5 Lys626Stop K626X not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR9A4 Gln165Stop Q165X not reviewed Insufficiently evaluated not reviewed unknown Array 10 10508 0.000951655 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - INTS10 Arg128Stop R128X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NUDT18 Leu38Shift L38Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57316099 21 22 0.954545 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PXDNL Cys305Shift C305Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RP1 Arg1652Cys R1652C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.858 Y - 8 Y 3 N - - CHD7 Gly2330Ala G2330A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 1 - 4 N - - MAL2 Val23Shift V23Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71302978 2 10 0.2 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRD Ser1845Shift S1845Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1045 Ser354Shift S354Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCG Thr297Ile T297I not reviewed Insufficiently evaluated not reviewed unknown Array rs2237857 322 10758 0.0299312 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.127 Y Y 3 - 2 N - - C9ORF85 Cys99Stop C99X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRPM6 Gly484Arg G484R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 6 Y 3 N - - PHF2 Gly758Shift G758Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAMTS13 Pro341Leu P341L not reviewed Insufficiently evaluated not reviewed unknown Array 94 10660 0.00881801 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - RPGR Met686Lys M686K not reviewed Insufficiently evaluated not reviewed unknown Array 69 8758 0.00787851 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - UBA1 Asn770His N770H not reviewed Insufficiently evaluated not reviewed unknown Array 64 8761 0.0073051 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - SSX9 Glu38Shift E38Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5902420 2 92 0.0217391 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1F Glu825GluGlu E825EE not reviewed Insufficiently evaluated not reviewed unknown Array 6 90 0.0666667 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - CHM Asn601Ser N601S not reviewed Insufficiently evaluated not reviewed unknown Array 113 8761 0.0128981 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - IDS PhePro155LeuGln FP155LQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - AVPR2 Ala147Val A147V not reviewed Insufficiently evaluated not reviewed unknown Array rs5200 192 8761 0.0219153 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.548 Y Y 2 - 3 N - - F8 Thr1088Ile T1088I not reviewed Insufficiently evaluated not reviewed unknown Array 9 8759 0.00102751 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 3 - 2 N - - TTLL10 Arg83Trp R83W not reviewed Insufficiently evaluated not reviewed unknown Array 103 10732 0.00959747 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - ATAD3C Glu407Gly E407G not reviewed Insufficiently evaluated not reviewed unknown Array 338 10746 0.0314536 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - ATAD3B Ala71Ser A71S not reviewed Insufficiently evaluated not reviewed unknown Array 407 10746 0.0378746 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - C1ORF222 Ser176Pro S176P not reviewed Insufficiently evaluated not reviewed unknown Array 156 10702 0.0145767 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MEGF6 Ala291Thr A291T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10436 0.000383288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF207 Ala577Thr A577T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746089 66 10482 0.00629651 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - TAS1R1 Ile127Thr I127T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 3 - 1 N - - TAS1R1 Leu129Phe L129F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS1R1 Ile483Thr I483T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - C1ORF200 Asn164Ser N164S not reviewed Insufficiently evaluated not reviewed unknown Array 137 9634 0.0142205 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF200 Arg44Cys R44C not reviewed Insufficiently evaluated not reviewed unknown Array 47 10158 0.00462689 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AF516753 Arg68Pro R68P not reviewed Insufficiently evaluated not reviewed unknown Array rs661256 739 8630 0.0856315 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AF516753 Val72Leu V72L not reviewed Insufficiently evaluated not reviewed unknown Array rs661272 792 8962 0.0883731 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AADACL3 Met250Ile M250I not reviewed Insufficiently evaluated not reviewed unknown Array rs3000931 177 10106 0.0175143 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HNRNPCL1 Glu212Gly E212G not reviewed Insufficiently evaluated not reviewed unknown Array rs12409975 6 76 0.0789474 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HNRNPCL1 GlnSer208HisCys QS208HC not reviewed Insufficiently evaluated not reviewed unknown Array 6 66 0.0909091 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CASP9 Thr366Asn T366N not reviewed Insufficiently evaluated not reviewed unknown Array rs61738967 94 10754 0.00874093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - 1 - 1 N - - RSC1A1 Glu169Lys E169K not reviewed Insufficiently evaluated not reviewed unknown Array rs35795032 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RSC1A1 Thr436Ser T436S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SPEN Val1637Ala V1637A not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SPEN Ser2553Gly S2553G not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - PADI1 Val649Met V649M not reviewed Insufficiently evaluated not reviewed unknown Array rs16824215 333 10758 0.0309537 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.926 - - 0 - 2 N - - TMCO4 Gly481Ser G481S not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - C1QC Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - E2F2 Asp338Asn D338N not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MYOM3 Ser90Thr S90T not reviewed Insufficiently evaluated not reviewed unknown Array 32 9980 0.00320641 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL22RA1 Leu222Pro L222P not reviewed Insufficiently evaluated not reviewed unknown Array rs34782294 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - CCDC21 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array rs35831900 180 10758 0.0167317 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF683 Lys483Asn K483N not reviewed Insufficiently evaluated not reviewed unknown Array rs36040832 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF683 Ala259Val A259V not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - ZNF683 Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF683 Glu184Asp E184D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744053 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - ZNF683 Gly22Val G22V not reviewed Insufficiently evaluated not reviewed unknown Array rs35040247 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 8 Y 1 N - - PTAFR Leu28Phe L28F not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - SDC3 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AL157420 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array rs2292165 2095 10758 0.194739 17 0 20 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - SPOCD1 Ala1157Val A1157V not reviewed Insufficiently evaluated not reviewed unknown Array 266 10572 0.0251608 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNC Ala66Thr A66T not reviewed Insufficiently evaluated not reviewed unknown Array rs397205 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD2 Leu1264Val L1264V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - ZMYM1 Asn952Del N952Del not reviewed Insufficiently evaluated not reviewed unknown Array rs35287118 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TFAP2E Val297Met V297M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF113 AlaHis176AspTyr AH176DY not reviewed Insufficiently evaluated not reviewed unknown Array rs2358729 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - EDN2 Ala34Val A34V not reviewed Insufficiently evaluated not reviewed unknown Array rs41269471 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIVEP3 Gly2207Glu G2207E not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRF Ser1498Thr S1498T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DMAP1 Met363Thr M363T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - CCDC17 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array 12 3164 0.00379267 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - KNCN Gly44Ser G44S not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0494 Arg67Gln R67Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.596 - - 0 - 1 N - - TAL1 Ala30Val A30V not reviewed Insufficiently evaluated not reviewed unknown Array 496 10404 0.047674 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KTI12 ProIleAlaGlyProGlnValAlaGly113Del PIAGPQVAG113Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 90 0.0333333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF175 Ala1193Thr A1193T not reviewed Insufficiently evaluated not reviewed unknown Array rs11807983 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF177 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C1ORF177 Arg306Leu R306L not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACSTD2 Ile297Val I297V not reviewed Insufficiently evaluated not reviewed unknown Array 330 10758 0.0306748 5 0 6 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - L1TD1 Phe276Leu F276L not reviewed Insufficiently evaluated not reviewed unknown Array 5 7616 0.000656512 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - L1TD1 Leu738Pro L738P not reviewed Insufficiently evaluated not reviewed unknown Array 14 7824 0.00178937 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 7 Y 0 N - - KANK4 Ile325Met I325M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - -1 - 1 N - - ROR1 Val542Ile V542I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - RAVER2 Thr501Met T501M not reviewed Insufficiently evaluated not reviewed unknown Array 12 9858 0.00121729 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE4B Ser703Cys S703C not reviewed Insufficiently evaluated not reviewed unknown Array rs2227297 43 10758 0.00399703 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - LRRIQ3 Ser549Arg S549R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9422 0.000212269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 3 - 0 N - - LRRIQ3 Arg525Cys R525C not reviewed Insufficiently evaluated not reviewed unknown Array 37 9456 0.00391286 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CTBS Arg287Cys R287C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 8 Y 2 N - - C1ORF180 Asp18Asn D18N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MCOLN2 Lys370Gln K370Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6704203 290 10758 0.0269567 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL24A1 Pro896His P896H not reviewed Insufficiently evaluated not reviewed unknown Array 84 9342 0.00899165 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CLCA3P Ile104Thr I104T not reviewed Insufficiently evaluated not reviewed unknown Array rs2292829 9 128 0.0703125 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.843 - - 3 - 0 N - - GBP4 His371Leu H371L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - LRRC8B Glu669Ala E669A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 3 - 1 N - - C1ORF146 Glu71Gln E71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61732740 145 10750 0.0134884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AMY2A Pro145Ser P145S not reviewed Insufficiently evaluated not reviewed unknown Array 111 7098 0.0156382 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.504 - - 3 - 1 N - - GPSM2 Ser600Phe S600F not reviewed Insufficiently evaluated not reviewed unknown Array rs35322815 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GSTM3 Leu23Pro L23P not reviewed Insufficiently evaluated not reviewed unknown Array 28 10650 0.00262911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 7 Y 1 N - - GSTM3 Met7Leu M7L not reviewed Insufficiently evaluated not reviewed unknown Array rs67174253 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - -3 - 1 N - - SLC6A17 Val392Ile V392I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OVGP1 Ser541Thr S541T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741118 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - LRIG2 Thr915Ile T915I not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - PHTF1 Ile125Val I125V not reviewed Insufficiently evaluated not reviewed unknown Array rs35311195 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDE4DIP Arg1852Trp R1852W not reviewed Insufficiently evaluated not reviewed unknown Array rs1698597 165 10750 0.0153488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.522 - - 7 Y 1 N - - ITGA10 His996Tyr H996Y not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - VPS45 Thr163Ala T163A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PRUNE Ser15Phe S15F not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POGZ Ile364Val I364V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TUFT1 Ala43Pro A43P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 2 - 1 N - - TUFT1 Lys296Arg K296R not reviewed Insufficiently evaluated not reviewed unknown Array rs16833395 246 10756 0.022871 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - IVL Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731344 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPRR2G Thr20Met T20M not reviewed Insufficiently evaluated not reviewed unknown Array 199 10752 0.0185082 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - S100A6 Gly90Asp G90D not reviewed Insufficiently evaluated not reviewed unknown Array rs2228293 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - S100A3 Thr48Ser T48S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -2 - 0 N - - S100A3 Arg22Cys R22C not reviewed Insufficiently evaluated not reviewed unknown Array rs61731550 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ATP8B2 Ala1210Val A1210V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNN3 Leu136Ser L136S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POU5F1P4 Phe168Ser F168S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0907 GlnPro450Del QP450Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RHBG Val143Ile V143I not reviewed Insufficiently evaluated not reviewed unknown Array 162 10372 0.015619 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPATCH4 Gln235His Q235H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FCRL5 Leu361Phe L361F not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIRREL Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs12081249 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PYHIN1 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - OR10J1 Met144Arg M144R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 4 Y 0 N - - FCRL6 Ser293Leu S293L not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 1 N - - LY9 Ser171Del S171Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD244 Ser318Phe S318F not reviewed Insufficiently evaluated not reviewed unknown Array rs12064925 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - ADCY10 Asn1181Ser N1181S not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FMO6P Gln230Leu Q230L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0040 Lys67Thr K67T not reviewed Insufficiently evaluated not reviewed unknown Array rs34814566 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0040 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF648 Asn527Asp N527D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - HMCN1 Thr2504Lys T2504K not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.157 Y - 3 - 1 N - - HMCN1 Val3980Met V3980M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - HMCN1 Val4191Ile V4191I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - -4 - 1 N - - HMCN1 Val4314Ala V4314A not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 2 - 3 N - - DENND1B Val57Ile V57I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PTPRC Thr50Ala T50A not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - GPR25 Asp343Tyr D343Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10626 0.000188217 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - PKP1 Cys161Tyr C161Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34704938 226 10742 0.0210389 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NAV1 Ala1282Thr A1282T not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R12B Arg857Lys R857K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AX721218 Pro103Leu P103L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - REN Gly217Arg G217R not reviewed Insufficiently evaluated not reviewed unknown Array rs11571117 225 10758 0.0209147 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FCAMR Arg548Gly R548G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729353 84 3234 0.025974 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNH1 Arg715Cys R715C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.79 - - 8 Y 1 N - - RHOU Glu213Asp E213D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - ABCB10 Tyr712Cys Y712C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10752 0.00232515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PGBD5 Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COG2 Asn545Lys N545K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 1 - 1 N - - C1ORF198 Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734648 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF131 Thr163Ala T163A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10740 0.000931098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1383 Glu503Lys E503K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735495 192 9858 0.0194766 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZP4 Pro494Leu P494L not reviewed Insufficiently evaluated not reviewed unknown Array rs35187146 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 2 N - - ZNF238 Asp329Glu D329E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF101 Tyr23Phe Y23F not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C1ORF101 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF26B Leu1442Arg L1442R not reviewed Insufficiently evaluated not reviewed unknown Array 140 9934 0.014093 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.769 - - 6 Y 1 N - - CNST Ser28Asn S28N not reviewed Insufficiently evaluated not reviewed unknown Array rs35286882 257 10758 0.0238892 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNST Pro114Ser P114S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10742 0.00195494 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - ZNF695 Ile396Val I396V not reviewed Insufficiently evaluated not reviewed unknown Array 328 10570 0.0310312 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF669 Gly460Ser G460S not reviewed Insufficiently evaluated not reviewed unknown Array rs7533935 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 2 N - - OR2B11 Asn290His N290H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - TRIM58 Gln237Arg Q237R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10728 0.00260999 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - OR2W3 Cys88His C88H not reviewed Insufficiently evaluated not reviewed unknown Array rs61748698 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2L2 Arg121His R121H not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.192 - - 1 - 0 N - - OR2L2 Val220Ile V220I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -4 - 1 N - - OR2L2 Arg226His R226H not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR2L3 Phe199Leu F199L not reviewed Insufficiently evaluated not reviewed unknown Array rs60743763 10 10728 0.00093214 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - OR2L3 Thr202Ala T202A not reviewed Insufficiently evaluated not reviewed unknown Array rs71498943 9 84 0.107143 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - OR2T12 Ser62Asn S62N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - DIP2C Ala233Val A233V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF108 Arg58Leu R58L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF108 Thr72Met T72M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKR1E2 Cys52Gly C52G not reviewed Insufficiently evaluated not reviewed unknown Array rs35429729 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - PRKCQ Thr536Met T536M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - APBB1IP Ala617Thr A617T not reviewed Insufficiently evaluated not reviewed unknown Array rs7903226 265 8910 0.0297419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_003525 Gln446Glu Q446E not reviewed Insufficiently evaluated not reviewed unknown Array 54 3234 0.0166976 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARMC4 Asp204Glu D204E not reviewed Insufficiently evaluated not reviewed unknown Array rs61729354 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LYZL1 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYZL2 Ser19Pro S19P not reviewed Insufficiently evaluated not reviewed unknown Array rs7089672 303 10758 0.0281651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARD3 Ser417Phe S417F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.043 - - 5 Y 0 N - - PARD3 Thr401Met T401M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - BMS1 Gln419Glu Q419E not reviewed Insufficiently evaluated not reviewed unknown Array rs61736597 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HNRNPA3P1 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR13A1 Ala56Asp A56D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - MARCH8 Thr357Met T357M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF71 Ala54Val A54V not reviewed Insufficiently evaluated not reviewed unknown Array 63 10228 0.00615956 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM21A Leu569Ser L569S not reviewed Insufficiently evaluated not reviewed unknown Array rs2490899 5 98 0.0510204 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ASAH2 Met102Val M102V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC16A9 Asp134Asn D134N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANK3 Ile4257Val I4257V not reviewed Insufficiently evaluated not reviewed unknown Array rs12261793 355 10758 0.0329987 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANK3 Lys3651Asn K3651N not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNA2 Val1014Ile V1014I not reviewed Insufficiently evaluated not reviewed unknown Array 278 9478 0.0293311 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC048213 Gln86Arg Q86R not reviewed Insufficiently evaluated not reviewed unknown Array rs12216 13 128 0.101562 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF105 Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF54 Ile191Val I191V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10754 0.0145062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SH2D4B Ser240Leu S240L not reviewed Insufficiently evaluated not reviewed unknown Array rs11817391 109 10744 0.0101452 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GHITM Pro188Leu P188L not reviewed Insufficiently evaluated not reviewed unknown Array rs11550184 164 9834 0.0166768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - LRIT1 Arg113Trp R113W not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.644 - - 7 Y 1 N - - FAM190B Ala564Val A564V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FAM190B Thr829Met T829M not reviewed Insufficiently evaluated not reviewed unknown Array rs61747212 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - PANK1 Gly6Ser G6S not reviewed Insufficiently evaluated not reviewed unknown Array rs61853459 366 9316 0.0392872 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 1 N - - PLCE1 Ile810Val I810V not reviewed Insufficiently evaluated not reviewed unknown Array 26 9656 0.00269263 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.031 Y - -4 - 1 N - - NOC3L Glu415Lys E415K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C10ORF28 Glu244Gln E244Q not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF28 Glu744Lys E744K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LOXL4 Arg293Cys R293C not reviewed Insufficiently evaluated not reviewed unknown Array 42 10700 0.00392523 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - HPSE2 Asn15Ser N15S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NKX2-3 Leu70Trp L70W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - PKD2L1 Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 1 - 1 N - - PDZD7 Arg124Trp R124W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - SH3PXD2A Arg994Cys R994C not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Ala1225Val A1225V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TDRD1 Tyr1138Cys Y1138C not reviewed Insufficiently evaluated not reviewed unknown Array rs34112549 139 10756 0.012923 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAG3 Ala479Val A479V not reviewed Insufficiently evaluated not reviewed unknown Array rs34656239 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 2 - 3 N - - DMBT1 Ser971Arg S971R not reviewed Insufficiently evaluated not reviewed unknown Array 251 6364 0.0394406 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CTBP2 Pro402Ser P402S not reviewed Insufficiently evaluated not reviewed unknown Array 116 10340 0.0112186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCERG1L Thr397Ala T397A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 1 - 1 N - - GPR123 Gly647Arg G647R not reviewed Insufficiently evaluated not reviewed unknown Array 483 7820 0.0617647 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPR123 Gly792Ser G792S not reviewed Insufficiently evaluated not reviewed unknown Array 259 10758 0.0240751 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.907 - - 2 - 2 N - - PHRF1 Ser1168Leu S1168L not reviewed Insufficiently evaluated not reviewed unknown Array rs74045052 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC2 Pro1831Arg P1831R not reviewed Insufficiently evaluated not reviewed unknown Array rs41469747 228 10338 0.0220546 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5AC Thr4881Met T4881M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737593 3 54 0.0555556 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TSSC4 Arg124Gln R124Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1008265 119 10718 0.0111028 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - SLC22A18 Ala204Thr A204T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MRGPRE Arg287Gln R287Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 9374 0.00277363 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - OR52M1 Pro32His P32H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - OR51D1 Gln103Arg Q103R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.246 - - 0 - 1 N - - OR52E2 Met261Val M261V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - 0 - 2 N - - OR51M1 Asn16Lys N16K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCHS1 Val2398Phe V2398F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OR2AG1 Gln65His Q65H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10754 0.00344058 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - -1 - 1 N - - OR10A4 Trp163Arg W163R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR10A4 Leu216Arg L216R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - OR2D3 Met300Val M300V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - ZNF214 Ser177Phe S177F not reviewed Insufficiently evaluated not reviewed unknown Array 57 10752 0.00530134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STK33 Arg318His R318H not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 1 - 1 N - - ST5 Arg158Gly R158G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - 6 Y 1 N - - SCUBE2 Asp212Asn D212N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - -1 - 0 N - - MRVI1 Ser319Asn S319N not reviewed Insufficiently evaluated not reviewed unknown Array rs35713531 190 9810 0.019368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRVI1 Pro219Ser P219S not reviewed Insufficiently evaluated not reviewed unknown Array rs59841977 167 10216 0.0163469 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRVI1 Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array rs34302310 227 10198 0.0222593 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSNK2A1 Val346Ile V346I not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MICALCL Asp582Val D582V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9908 0.000100928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 8 Y 1 N - - E2F8 Ser358Thr S358T not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - DBX1 Ser153Del S153Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC6A5 Asn116Ser N116S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736604 126 10758 0.0117122 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 0 - 1 N - - CCDC34 AspGluGluAspValAsp92Del DEEDVD92Del not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CCDC34 Gly39Ser G39S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - 2 - 1 N - - C11ORF41 Thr320Met T320M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736870 125 10066 0.012418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF41 Arg618Gln R618Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736873 88 9744 0.0090312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APIP Met181Val M181V not reviewed Insufficiently evaluated not reviewed unknown Array rs17850327 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 0 - 0 N - - RAG1 Asp302Glu D302E not reviewed Insufficiently evaluated not reviewed unknown Array rs4151030 278 10758 0.0258412 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.077 Y - -2 - 1 N - - ACCS Asp134Glu D134E not reviewed Insufficiently evaluated not reviewed unknown Array rs2018795 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - -2 - 1 N - - ARHGAP1 Tyr188Cys Y188C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ARFGAP2 Arg339His R339H not reviewed Insufficiently evaluated not reviewed unknown Array rs34662994 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 1 - 2 N - - PACSIN3 Glu108Gly E108G not reviewed Insufficiently evaluated not reviewed unknown Array 54 10712 0.00504107 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - NR1H3 Gly52Val G52V not reviewed Insufficiently evaluated not reviewed unknown Array rs41481445 64 10748 0.0059546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MADD Arg161His R161H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733162 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.646 Y - 1 - 2 N - - OR4C45 Thr222Ser T222S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR4C45 Phe219Ser F219S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4C46 Ala234Val A234V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 2 - 2 N - - OR5L2 Gly108Val G108V not reviewed Insufficiently evaluated not reviewed unknown Array rs34954823 11 124 0.0887097 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - OR5L2 Arg141Ser R141S not reviewed Insufficiently evaluated not reviewed unknown Array rs34929168 12 122 0.0983607 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - OR5W2 Tyr132Ser Y132S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - OR5T1 Leu94Val L94V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - OR8H1 Arg130Cys R130C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.483 - - 8 Y 1 N - - AB231740 Pro79Leu P79L not reviewed Insufficiently evaluated not reviewed unknown Array rs58456747 13 128 0.101562 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CTNND1 Lys881Thr K881T not reviewed Insufficiently evaluated not reviewed unknown Array 24 9526 0.00251942 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.673 - - 3 - 1 N - - OR1S2 Ile59Thr I59T not reviewed Insufficiently evaluated not reviewed unknown Array rs11229281 13 126 0.103175 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 1 N - - INCENP Glu383Lys E383K not reviewed Insufficiently evaluated not reviewed unknown Array rs61751226 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GANAB His872Tyr H872Y not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC22A10 Ile478Thr I478T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9630 0.00114226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC88B Ser1037Phe S1037F not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 2 N - - RASGRP2 Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56186064 7 118 0.059322 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDC42BPG Pro724Thr P724T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - SPDYC Arg290His R290H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - CR609936 Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A20 Arg162Ser R162S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC22A20 Trp302Arg W302R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742133 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP3K11 Pro540Ser P540S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736582 51 10748 0.00474507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_138368 Pro627Leu P627L not reviewed Insufficiently evaluated not reviewed unknown Array rs56798161 245 10004 0.0244902 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SART1 Arg373Gln R373Q not reviewed Insufficiently evaluated not reviewed unknown Array 95 10752 0.00883557 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TMEM151A Gly83Arg G83R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 6 Y 1 N - - SPTBN2 Arg1488His R1488H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 1 - 3 N - - C11ORF80 Ala27Gly A27G not reviewed Insufficiently evaluated not reviewed unknown Array 2 24 0.0833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CARNS1 Arg769Cys R769C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PPP6R3 Ala762Val A762V not reviewed Insufficiently evaluated not reviewed unknown Array rs34009811 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ANO1 Glu48Lys E48K not reviewed Insufficiently evaluated not reviewed unknown Array 635 10352 0.0613408 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ARHGEF17 Gly1879Ser G1879S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - RAB6A Ser207Phe S207F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - RNF169 Pro41Ser P41S not reviewed Insufficiently evaluated not reviewed unknown Array rs7120645 86 6178 0.0139204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC32 Leu7Met L7M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -3 - 2 N - - PRCP Gln396Pro Q396P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 4 Y 1 N - - CCDC83 Arg294His R294H not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOLH1B Asn281Ser N281S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10746 0.0053043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRE11A Ser334Arg S334R not reviewed Insufficiently evaluated not reviewed unknown Array 179 10756 0.0166419 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - PIWIL4 Met588Val M588V not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENDOD1 Arg184Trp R184W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - JRKL Ser461Arg S461R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.453 - - 3 - 1 N - - DYNC2H1 Arg456Gln R456Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17099969 212 9460 0.0224101 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - CWF19L2 Asp440Gly D440G not reviewed Insufficiently evaluated not reviewed unknown Array rs36025692 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CWF19L2 Gln36His Q36H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXPH5 Val1706Ile V1706I not reviewed Insufficiently evaluated not reviewed unknown Array rs36022102 324 10758 0.0301171 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPP2R1B Arg619Trp R619W not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEP164 Glu547Lys E547K not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - 0 - 1 N - - TMPRSS4 Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - USP2 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - GRIK4 Val528Ile V528I not reviewed Insufficiently evaluated not reviewed unknown Array rs35599906 332 10758 0.0308608 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRAMD1B Asp272Glu D272E not reviewed Insufficiently evaluated not reviewed unknown Array 43 10456 0.00411247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR8B2 Met114Ile M114I not reviewed Insufficiently evaluated not reviewed unknown Array rs73612854 2 54 0.037037 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ESAM Val376Met V376M not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PATE4 Leu12Phe L12F not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP32 Arg1687Gln R1687Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP32 Asp484His D484H not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM45B Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array 301 10758 0.0279792 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACAD8 Val388Met V388M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - C12ORF32 Arg8Cys R8C not reviewed Insufficiently evaluated not reviewed unknown Array rs34096285 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TEAD4 Arg278Cys R278C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FGF6 Asp174Val D174V not reviewed Insufficiently evaluated not reviewed unknown Array rs7961645 602 10758 0.0559584 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 8 Y 0 N - - RPL13P5 Arg140Gly R140G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACSM4 Ala278Thr A278T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - CLEC4A Stop238Arg X238R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC073935 Arg187Cys R187C not reviewed Insufficiently evaluated not reviewed unknown Array rs61604258 13 126 0.103175 12 0 13 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CLEC4D Glu72Gly E72G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 6 Y 0 N - - EU095394 Ser73Pro S73P not reviewed Insufficiently evaluated not reviewed unknown Array rs61747884 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_006611 Gln71Arg Q71R not reviewed Insufficiently evaluated not reviewed unknown Array rs7953309 21 124 0.169355 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R9 Asp150Glu D150E not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PRB4 Ile4Thr I4T not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSG1 Glu82Asp E82D not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - GSG1 Asn80Ile N80I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.288 - - 7 Y 1 N - - EMP1 Val83Met V83M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.477 - - 0 - 1 N - - PLCZ1 Ile120Met I120M not reviewed Insufficiently evaluated not reviewed unknown Array 99 10746 0.00921273 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.254 - - -1 - 1 N - - SLCO1B1 Gly488Ala G488A not reviewed Insufficiently evaluated not reviewed unknown Array rs59502379 134 10756 0.0124582 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OVCH1 Val339Ala V339A not reviewed Insufficiently evaluated not reviewed unknown Array 46 9538 0.00482281 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - NM_001080502 Phe474Leu F474L not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ABCD2 Thr63Arg T63R not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENDOU Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734363 153 10758 0.014222 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNT1 His362Arg H362R not reviewed Insufficiently evaluated not reviewed unknown Array rs17123261 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - CR591575 Gly105Arg G105R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPATS2 Val22Ile V22I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733031 179 10758 0.0166388 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.914 - - -4 - 2 N - - NM_020941 Cys488Phe C488F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT77 Arg339Gln R339Q not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT78 Gly224Ala G224A not reviewed Insufficiently evaluated not reviewed unknown Array rs2682343 312 10758 0.0290017 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - TENC1 Pro833Ser P833S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - MAP3K12 Gly640Ser G640S not reviewed Insufficiently evaluated not reviewed unknown Array rs55794887 89 10746 0.00828215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGA5 His827Tyr H827Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - -1 - 0 N - - NCKAP1L Arg1090Ser R1090S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9K2 Leu328Val L328V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6C3 Ile219Phe I219F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - OR6C2 Ile154Val I154V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - GLS2 Tyr326Cys Y326C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NACA Pro299Arg P299R not reviewed Insufficiently evaluated not reviewed unknown Array 8 7820 0.00102302 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NACA Gln40Glu Q40E not reviewed Insufficiently evaluated not reviewed unknown Array 3 7820 0.000383631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRP1 Thr780Ile T780I not reviewed Insufficiently evaluated not reviewed unknown Array rs34492744 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.706 - - 3 - 1 N - - AGAP2 Leu381Met L381M not reviewed Insufficiently evaluated not reviewed unknown Array 51 7668 0.00665102 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - -3 - 0 N - - DPY19L2 Ser630Asn S630N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAND1 Asn736Ser N736S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRS2 Glu236Lys E236K not reviewed Insufficiently evaluated not reviewed unknown Array rs61759369 20 9750 0.00205128 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB3IP Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPH2 Leu36Val L36V not reviewed Insufficiently evaluated not reviewed unknown Array rs34115267 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C12ORF64 Pro297Ser P297S not reviewed Insufficiently evaluated not reviewed unknown Array rs35010860 329 10756 0.0305876 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCN Thr268Met T268M not reviewed Insufficiently evaluated not reviewed unknown Array rs3138268 204 10758 0.0189626 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.032 - Y 2 - 1 N - - BTG1 Asn139Ser N139S not reviewed Insufficiently evaluated not reviewed unknown Array rs28399541 144 10758 0.0133854 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF74 Arg25Met R25M not reviewed Insufficiently evaluated not reviewed unknown Array 47 9776 0.00480769 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMPO Asn117Ser N117S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - UHRF1BP1L His1281Arg H1281R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - UHRF1BP1L Asp1223Asn D1223N not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC5A8 Ala35Ser A35S not reviewed Insufficiently evaluated not reviewed unknown Array 157 10754 0.0145992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - STAB2 Thr2034Met T2034M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 1 N - - STAB2 Thr2399Met T2399M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.808 - - 2 - 1 N - - EID3 Val23Leu V23L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10428 0.000479478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACACB Glu2260Lys E2260K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT81 Val214Ala V214A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - RAD9B Gly369Arg G369R not reviewed Insufficiently evaluated not reviewed unknown Array rs34513555 776 10758 0.0721324 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CUX2 Thr473Cys T473C not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALDH2 Gln461Glu Q461E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.635 - - -2 - 1 N - - DDX54 Gly702Glu G702E not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.09 - - 6 Y 0 N - - SLC24A6 Cys559Tyr C559Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.942 - - 6 Y 2 N - - RAB35 Arg65Cys R65C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR66 Thr104Ile T104I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RILPL1 Asn119Ser N119S not reviewed Insufficiently evaluated not reviewed unknown Array rs2292500 10 128 0.078125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001083900 Arg1865Lys R1865K not reviewed Insufficiently evaluated not reviewed unknown Array rs35685787 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NCOR2 Ala994Gly A994G not reviewed Insufficiently evaluated not reviewed unknown Array rs11057592 255 10198 0.0250049 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOR2 Gly781Glu G781E not reviewed Insufficiently evaluated not reviewed unknown Array rs7978237 1125 9638 0.116725 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NCOR2 His52Arg H52R not reviewed Insufficiently evaluated not reviewed unknown Array 111 10440 0.0106322 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX37 Val717Ile V717I not reviewed Insufficiently evaluated not reviewed unknown Array rs35016004 113 10758 0.0105038 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TMEM132B Gln251Leu Q251L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735212 253 9860 0.0256592 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - GOLGA3 Lys1383Asn K1383N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 1 - 1 N - - GOLGA3 Ser81Arg S81R not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 1 N - - IFT88 Ser205Gly S205G not reviewed Insufficiently evaluated not reviewed unknown Array 129 10742 0.0120089 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001007537 Cys60Arg C60R not reviewed Insufficiently evaluated not reviewed unknown Array rs4067961 25 84 0.297619 16 0 20 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SPATA13 Glu460Lys E460K not reviewed Insufficiently evaluated not reviewed unknown Array rs7324542 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP4 Arg462Cys R462C not reviewed Insufficiently evaluated not reviewed unknown Array 158 10752 0.0146949 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CENPJ Ser857Arg S857R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 3 - 1 N - - GPR12 Val36Leu V36L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - USPL1 Ile583Val I583V not reviewed Insufficiently evaluated not reviewed unknown Array rs41412648 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - HSPH1 Tyr641Cys Y641C not reviewed Insufficiently evaluated not reviewed unknown Array 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - KL Tyr1003Cys Y1003C not reviewed Insufficiently evaluated not reviewed unknown Array rs35328951 69 10748 0.0064198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KIAA0564 Ile1439Leu I1439L not reviewed Insufficiently evaluated not reviewed unknown Array 149 9466 0.0157405 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0564 Arg898Lys R898K not reviewed Insufficiently evaluated not reviewed unknown Array rs41288291 149 10468 0.0142339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AK057244 Gly495Ala G495A not reviewed Insufficiently evaluated not reviewed unknown Array rs41292939 20 128 0.15625 14 0 18 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 1 N - - PCDH17 Cys1057Arg C1057R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - UGGT2 His630Arg H630R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KDELC1 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array rs7981609 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CARKD Thr329Met T329M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.506 - - 2 - 1 N - - BC034570 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array rs7998051 5 126 0.0396825 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GAS6 Ser580Leu S580L not reviewed Insufficiently evaluated not reviewed unknown Array 86 10712 0.00802838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF828 Met671Ile M671I not reviewed Insufficiently evaluated not reviewed unknown Array rs35812683 91 10758 0.00845882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - OR4M1 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.747 - - 1 - 1 N - - OR4M1 Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 1 N - - OR4K5 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - -4 - 2 N - - OR4K5 Ser117Leu S117L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.342 - - 6 Y 1 N - - OR4K1 Asp84Val D84V not reviewed Insufficiently evaluated not reviewed unknown Array 253 10758 0.0235174 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - OR4L1 Ser93Pro S93P not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - OR11G2 Lys128Asn K128N not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.561 - - 1 - 1 N - - OR11G2 Val183Met V183M not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ARHGEF40 GlyGly361Del GG361Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR4E2 Val270Leu V270L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732409 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - DQ341465 Gln59Glu Q59E not reviewed Insufficiently evaluated not reviewed unknown Array rs61744563 49 9938 0.00493057 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK125397 Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - X15260 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array rs62623444 137 9580 0.0143006 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP10 Met139Val M139V not reviewed Insufficiently evaluated not reviewed unknown Array rs28534929 222 10756 0.0206396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - LRP10 Ala501Ser A501S not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - HAUS4 Tyr183Cys Y183C not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDH24 Arg462His R462H not reviewed Insufficiently evaluated not reviewed unknown Array 334 10758 0.0310467 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC7A8 Arg181Gln R181Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NKX2-1 Pro67Ser P67S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TTC6 Thr376Ser T376S not reviewed Insufficiently evaluated not reviewed unknown Array rs17107176 10 128 0.078125 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BC068095 Thr44Met T44M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SOS2 Asp773His D773H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NIN Val889Leu V889L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - NAA30 Cys27Tyr C27Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - NAA30 Glu178Gln E178Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.809 - - -2 - 1 N - - SYNE2 Arg3399His R3399H not reviewed Insufficiently evaluated not reviewed unknown Array rs36039501 121 9830 0.0123093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SYNE2 Ile3423Met I3423M not reviewed Insufficiently evaluated not reviewed unknown Array rs35920722 155 9754 0.0158909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BX161387 Glu64Lys E64K not reviewed Insufficiently evaluated not reviewed unknown Array rs1953417 30 122 0.245902 18 0 23 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLEK2 Thr218Ser T218S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - -2 - 2 N - - C14ORF169 Pro101Leu P101L not reviewed Insufficiently evaluated not reviewed unknown Array 159 6864 0.0231643 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACOT1 Arg266His R266H not reviewed Insufficiently evaluated not reviewed unknown Array rs17845023 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF43 Pro595Ala P595A not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLH3 Arg1115Gln R1115Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - MLH3 Phe120Ser F120S not reviewed Insufficiently evaluated not reviewed unknown Array rs28756979 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 5 Y 1 N - - SAMD15 Leu462Ile L462I not reviewed Insufficiently evaluated not reviewed unknown Array rs61729326 251 10758 0.0233315 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - ISM2 Pro133Ala P133A not reviewed Insufficiently evaluated not reviewed unknown Array rs11850175 383 10758 0.0356014 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - SPTLC2 Gly169Ala G169A not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - KCNK13 Gly389Ala G389A not reviewed Insufficiently evaluated not reviewed unknown Array rs35909577 188 10748 0.0174916 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.099 - - 1 - 0 N - - CCDC88C Leu252Val L252V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745576 75 10630 0.0070555 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - DDX24 Ser92Phe S92F not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - IFI27 Ser106Phe S106F not reviewed Insufficiently evaluated not reviewed unknown Array rs2227974 707 10758 0.0657185 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.495 - - 5 Y 0 N - - BC016033 Pro148Ser P148S not reviewed Insufficiently evaluated not reviewed unknown Array rs56666624 4 124 0.0322581 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XRCC3 Arg243His R243H not reviewed Insufficiently evaluated not reviewed unknown Array 64 10750 0.00595349 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - TDRD9 Arg99Cys R99C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 8 Y 0 N - - INF2 Val360Ile V360I not reviewed Insufficiently evaluated not reviewed unknown Array 52 9972 0.0052146 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -4 - 0 N - - KIAA0284 Pro236Leu P236L not reviewed Insufficiently evaluated not reviewed unknown Array rs61752555 92 9850 0.0093401 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 7 Y 0 N - - AHNAK2 Gly3219Glu G3219E not reviewed Insufficiently evaluated not reviewed unknown Array 20 9630 0.00207684 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.741 - - 6 Y 1 N - - AHNAK2 Pro3052Leu P3052L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - AHNAK2 Leu3044Val L3044V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AHNAK2 Pro2180Glu P2180E not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AHNAK2 Ser1185Met S1185M not reviewed Insufficiently evaluated not reviewed unknown Array 6 108 0.0555556 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AHNAK2 Val1103Ile V1103I not reviewed Insufficiently evaluated not reviewed unknown Array 170 9652 0.0176129 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CR619482 Pro120Leu P120L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLGA6L1 Arg491Trp R491W not reviewed Insufficiently evaluated not reviewed unknown Array 286 4930 0.0580122 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ATP10A Val593Met V593M not reviewed Insufficiently evaluated not reviewed unknown Array 53 10696 0.00495512 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - NDNL2 Ser24Gly S24G not reviewed Insufficiently evaluated not reviewed unknown Array 487 8518 0.057173 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - NDNL2 Ala15Val A15V not reviewed Insufficiently evaluated not reviewed unknown Array 472 8332 0.0566491 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF770 Met153Arg M153R not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPRED1 Val309Ala V309A not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C15ORF52 Gly288Val G288V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TYRO3 Ala815Val A815V not reviewed Insufficiently evaluated not reviewed unknown Array rs1042057 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPTBN5 Val533Met V533M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10152 0.00453113 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLA2G4E Trp648Leu W648L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLA2G4D Val322Leu V322L not reviewed Insufficiently evaluated not reviewed unknown Array rs77803799 217 10758 0.020171 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GANC Ser427Asn S427N not reviewed Insufficiently evaluated not reviewed unknown Array rs61752494 316 10758 0.0293735 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TGM5 Lys608Glu K608E not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.629 - - 0 - 1 N - - ADAL Asn237Ser N237S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBGCP4 Ile244Thr I244T not reviewed Insufficiently evaluated not reviewed unknown Array 37 9910 0.0037336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.308 - - 3 - 1 N - - GALK2 Ile51Val I51V not reviewed Insufficiently evaluated not reviewed unknown Array rs35720727 28 10758 0.00260271 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.078 - - -4 - 0 N - - USP50 Gln233Arg Q233R not reviewed Insufficiently evaluated not reviewed unknown Array 40 9628 0.00415455 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - MAPK6 Ser428Pro S428P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF280D Ser51Thr S51T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TCF12 Leu507Arg L507R not reviewed Insufficiently evaluated not reviewed unknown Array rs36060670 51 10758 0.00474066 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANXA2 Gly330Ser G330S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731031 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NARG2 Gln254His Q254H not reviewed Insufficiently evaluated not reviewed unknown Array rs41372146 86 10756 0.00799554 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 1 N - - HERC1 Ser2474Gly S2474G not reviewed Insufficiently evaluated not reviewed unknown Array 8 9880 0.000809716 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGDCC4 Thr1222Asn T1222N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - IGDCC4 Pro1161Leu P1161L not reviewed Insufficiently evaluated not reviewed unknown Array rs2292933 311 10758 0.0289087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - UACA Leu780Met L780M not reviewed Insufficiently evaluated not reviewed unknown Array 141 10756 0.013109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NM_001093733 Ala102Asp A102D not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYO9A Arg1834Cys R1834C not reviewed Insufficiently evaluated not reviewed unknown Array 269 10758 0.0250046 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ULK3 Asn132Thr N132T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10244 0.000195236 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCAPER Ser31Asn S31N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - ADAMTS7 Ala424Val A424V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748712 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMC3 Asp848Val D848V not reviewed Insufficiently evaluated not reviewed unknown Array 115 10128 0.0113547 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMC3 Pro374Thr P374T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740148 142 10606 0.0133886 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC020234 Pro65Leu P65L not reviewed Insufficiently evaluated not reviewed unknown Array rs7172510 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HOMER2 Gln214His Q214H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10652 0.000375516 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - ADAMTSL3 Thr5Ser T5S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - ZNF592 Ser298Gly S298G not reviewed Insufficiently evaluated not reviewed unknown Array rs61736261 134 10758 0.0124558 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALPK3 Gly1191Arg G1191R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - SLC28A1 Ser546Pro S546P not reviewed Insufficiently evaluated not reviewed unknown Array rs45584739 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP13 Pro2396Arg P2396R not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKAP13 Arg2682Trp R2682W not reviewed Insufficiently evaluated not reviewed unknown Array 92 10756 0.00855337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.858 - - 7 Y 2 N - - ACAN Met1854Thr M1854T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACAN Ser2000Arg S2000R not reviewed Insufficiently evaluated not reviewed unknown Array rs34153007 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C15ORF42 Thr1732Met T1732M not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF42 Ser1837Thr S1837T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF774 Asn83Arg N83R not reviewed Insufficiently evaluated not reviewed unknown Array rs28678568 9 126 0.0714286 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SYNM Glu746Lys E746K not reviewed Insufficiently evaluated not reviewed unknown Array 229 10262 0.0223153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNM Glu1080Lys E1080K not reviewed Insufficiently evaluated not reviewed unknown Array 222 10270 0.0216164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4F15 Ser149Phe S149F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737725 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RGS11 Glu453Lys E453K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - MSLN Gln257His Q257H not reviewed Insufficiently evaluated not reviewed unknown Array 160 10672 0.0149925 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - -1 - 2 N - - PTX4 Gly408Arg G408R not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTX4 Arg135Ser R135S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734779 20 128 0.15625 16 0 19 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - IFT140 Leu777Arg L777R not reviewed Insufficiently evaluated not reviewed unknown Array rs34535263 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 6 Y 1 N - - IFT140 Arg280Trp R280W not reviewed Insufficiently evaluated not reviewed unknown Array rs8058674 237 10758 0.0220301 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.692 - - 7 Y 1 N - - FLYWCH1 Ala442Val A442V not reviewed Insufficiently evaluated not reviewed unknown Array 4 9604 0.000416493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NMRAL1 Thr23Ile T23I not reviewed Insufficiently evaluated not reviewed unknown Array rs11557236 655 10758 0.0608849 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.734 - - 3 - 0 N - - TEKT5 Gln134Lys Q134K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - -2 - 2 N - - ITPRIPL2 Cys237Ser C237S not reviewed Insufficiently evaluated not reviewed unknown Array rs8051801 110 10758 0.0102249 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ACSM1 Lys258Arg K258R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742591 254 10758 0.0236103 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - DNAH3 Ile2399Asn I2399N not reviewed Insufficiently evaluated not reviewed unknown Array rs34179606 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 1 N - - IGSF6 Val47Ile V47I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.785 - - -4 - 1 N - - SCNN1B Ala61Thr A61T not reviewed Insufficiently evaluated not reviewed unknown Array rs72654321 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 1 - 1 N - - XPO6 Glu937Lys E937K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10374 0.00115674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 1 N - - RABEP2 Arg120Lys R120K not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -3 - 2 N - - SETD1A Pro1405His P1405H not reviewed Insufficiently evaluated not reviewed unknown Array 44 8514 0.00516796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITGAD Ser905Leu S905L not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARMC5 Leu156Phe L156F not reviewed Insufficiently evaluated not reviewed unknown Array 72 10148 0.00709499 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - C16ORF58 Thr309Ile T309I not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK125843 Gln213His Q213H not reviewed Insufficiently evaluated not reviewed unknown Array rs915994 17 56 0.303571 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - AK125843 Gln215Arg Q215R not reviewed Insufficiently evaluated not reviewed unknown Array rs915995 18 62 0.290323 9 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ABCC12 Lys894Met K894M not reviewed Insufficiently evaluated not reviewed unknown Array rs8057474 290 10758 0.0269567 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - 4 Y 0 N - - ZNF423 Glu611Gly E611G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - TMEM188 Leu15Pro L15P not reviewed Insufficiently evaluated not reviewed unknown Array 58 9740 0.00595482 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BRD7 Val458Ile V458I not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - NOD2 Ala725Gly A725G not reviewed Insufficiently evaluated not reviewed unknown Array rs5743278 142 10758 0.0131995 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.654 Y - 1 - 2 N - - CHD9 Ser2330Pro S2330P not reviewed Insufficiently evaluated not reviewed unknown Array 51 9968 0.00511637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IRX6 Phe318Ile F318I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743419 56 10754 0.00520736 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - CES5A Gly449Arg G449R not reviewed Insufficiently evaluated not reviewed unknown Array rs16955812 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MT1F Cys44Arg C44R not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.965 - - 8 Y 2 N - - MT1H Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MT1H Gln46Pro Q46P not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC135 Ser829Cys S829C not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - MMP15 Arg333Gln R333Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10194 0.00264862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - LRRC29 Leu165Pro L165P not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 7 Y 2 N - - ACD Gly394Glu G394E not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 6 Y 1 N - - C16ORF48 Arg203Cys R203C not reviewed Insufficiently evaluated not reviewed unknown Array 72 10752 0.00669643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CENPT Pro115Leu P115L not reviewed Insufficiently evaluated not reviewed unknown Array rs12102580 366 10206 0.0358613 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.338 - - 7 Y 1 N - - NRN1L Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 69 10732 0.00642937 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDPR Ile46Val I46V not reviewed Insufficiently evaluated not reviewed unknown Array 11 90 0.122222 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - FUK Ala521Thr A521T not reviewed Insufficiently evaluated not reviewed unknown Array rs17881069 237 9632 0.0246055 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HYDIN Gln4224His Q4224H not reviewed Insufficiently evaluated not reviewed unknown Array 33 4706 0.00701232 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HYDIN Met2410Val M2410V not reviewed Insufficiently evaluated not reviewed unknown Array 130 9342 0.0139156 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - HYDIN Glu2294Asp E2294D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - -2 - 1 N - - HYDIN Val1198Ile V1198I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - -4 - 1 N - - FTSJD1 Phe753Leu F753L not reviewed Insufficiently evaluated not reviewed unknown Array rs16970857 412 10758 0.0382971 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFHX3 His47Gln H47Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - WWOX Thr111Ser T111S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9592 0.00354462 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PKD1L2 Ala1527Val A1527V not reviewed Insufficiently evaluated not reviewed unknown Array rs16954775 199 9862 0.0201785 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0182 Leu404Val L404V not reviewed Insufficiently evaluated not reviewed unknown Array 35 9308 0.00376021 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCCHC14 Pro158Thr P158T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK126852 Trp116Arg W116R not reviewed Insufficiently evaluated not reviewed unknown Array rs28650772 42 64 0.65625 17 0 28 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF469 Lys2232Arg K2232R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.445 - - -3 - 1 N - - ZNF469 Met2974Leu M2974L not reviewed Insufficiently evaluated not reviewed unknown Array 21 3194 0.00657483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTU2 His186Tyr H186Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2290895 1661 10728 0.154828 11 0 12 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 1 N - - CDT1 Ala320Thr A320T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10718 0.000186601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GALNS Val480Phe V480F not reviewed Insufficiently evaluated not reviewed unknown Array 64 10684 0.00599026 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 3 - 1 N - - FAM101B Leu39Ser L39S not reviewed Insufficiently evaluated not reviewed unknown Array 468 10396 0.0450173 7 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GEMIN4 Arg707Cys R707C not reviewed Insufficiently evaluated not reviewed unknown Array rs34519093 221 9880 0.0223684 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NXN Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731770 280 10758 0.0260271 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - WDR81 Leu431Pro L431P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OVCA2 Ala210Leu A210L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SGSM2 Arg667Gln R667Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61733096 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - METT10D Lys471Arg K471R not reviewed Insufficiently evaluated not reviewed unknown Array 77 9816 0.00784434 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - RAP1GAP2 Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array 96 10062 0.00954085 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.56 - - 0 - 1 N - - OR1G1 Ser239Phe S239F not reviewed Insufficiently evaluated not reviewed unknown Array rs61736117 189 10758 0.0175683 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - OR3A4 Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array rs8076130 737 10758 0.0685072 9 0 12 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR1E2 Asp109Tyr D109Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - TRPV3 Asp198Asn D198N not reviewed Insufficiently evaluated not reviewed unknown Array 322 10758 0.0299312 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - ATP2A3 Asp458Asn D458N not reviewed Insufficiently evaluated not reviewed unknown Array rs9913158 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPNS3 Gly236Arg G236R not reviewed Insufficiently evaluated not reviewed unknown Array rs61740736 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPNS2 Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 140 7820 0.0179028 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPNS2 Gly188Arg G188R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYBBP1A Ile184Val I184V not reviewed Insufficiently evaluated not reviewed unknown Array 315 10758 0.0292805 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GP1BA Thr161Met T161M not reviewed Insufficiently evaluated not reviewed unknown Array rs6065 1228 10064 0.122019 15 0 16 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - SLC16A11 Val282Ala V282A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10540 0.00104364 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.508 - - 2 - 1 N - - NEURL4 Gly1105Ser G1105S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ACAP1 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - TNK1 Ser541Cys S541C not reviewed Insufficiently evaluated not reviewed unknown Array rs56093628 69 9926 0.00695144 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF74 Gln376Arg Q376R not reviewed Insufficiently evaluated not reviewed unknown Array rs3892554 492 10344 0.0475638 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AMAC1L3 Ser120Gly S120G not reviewed Insufficiently evaluated not reviewed unknown Array 380 10758 0.0353226 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - KRBA2 Thr435Met T435M not reviewed Insufficiently evaluated not reviewed unknown Array rs370752 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - USP43 Pro81Leu P81L not reviewed Insufficiently evaluated not reviewed unknown Array 19 5548 0.00342466 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYH3 Tyr471His Y471H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.469 Y - -1 - 2 N - - DNAH9 Gly4279Ser G4279S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 2 - 0 N - - ZNF18 Ile273Leu I273L not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDRT4 Cys127Ser C127S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742151 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_152350 Ser78Thr S78T not reviewed Insufficiently evaluated not reviewed unknown Array rs35752829 11 128 0.0859375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC144A Phe394Leu F394L not reviewed Insufficiently evaluated not reviewed unknown Array 3 98 0.0306122 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO15A Ala2488Thr A2488T not reviewed Insufficiently evaluated not reviewed unknown Array rs16960959 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TOP3A Arg405Cys R405C not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - BC026998 Asp73Tyr D73Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73304830 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ULK2 Arg881Gln R881Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62636615 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGALS9B Ser40Cys S40C not reviewed Insufficiently evaluated not reviewed unknown Array rs1682207 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC144NL Gly146Glu G146E not reviewed Insufficiently evaluated not reviewed unknown Array 343 10288 0.0333398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LGALS9 Phe66Leu F66L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736866 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - SEBOX Trp101Arg W101R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEBOX Arg20Trp R20W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLOT2 Pro418His P418H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYO18A Arg1736His R1736H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10100 0.00158416 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - SSH2 Gly1312Ser G1312S not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ATAD5 Gly1434Ala G1434A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - SLFN12L Ser302Asn S302N not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLFN12L Thr258Ser T258S not reviewed Insufficiently evaluated not reviewed unknown Array 46 3234 0.0142239 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TAF15 Gly542Ser G542S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF66 Lys33Asn K33N not reviewed Insufficiently evaluated not reviewed unknown Array 374 10758 0.0347648 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCL4 Met12Val M12V not reviewed Insufficiently evaluated not reviewed unknown Array rs9635771 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCL4 Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array rs1130750 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SRCIN1 Val858Met V858M not reviewed Insufficiently evaluated not reviewed unknown Array rs7222929 497 9952 0.0499397 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT23 Thr370Met T370M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KRT23 Arg292His R292H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KRT40 Pro130Ser P130S not reviewed Insufficiently evaluated not reviewed unknown Array 108 10692 0.010101 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - KRT15 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array 207 10740 0.0192737 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC25 Tyr104His Y104H not reviewed Insufficiently evaluated not reviewed unknown Array 20 9818 0.00203707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AOC3 Arg441Trp R441W not reviewed Insufficiently evaluated not reviewed unknown Array rs2229596 250 10758 0.0232385 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - AARSD1 Val5Ile V5I not reviewed Insufficiently evaluated not reviewed unknown Array rs34584554 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NBR1 Arg312His R312H not reviewed Insufficiently evaluated not reviewed unknown Array 145 9626 0.0150634 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB16 Thr240Ile T240I not reviewed Insufficiently evaluated not reviewed unknown Array rs7224330 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF65 Trp122Stop W122X not reviewed Insufficiently evaluated not reviewed unknown Array rs7224330 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC4A1 Glu508Lys E508K not reviewed Insufficiently evaluated not reviewed unknown Array rs45568837 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 3 N - - AX747040 Val63Ile V63I not reviewed Insufficiently evaluated not reviewed unknown Array rs12952204 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -4 - 2 N - - AX747040 Thr101Ile T101I not reviewed Insufficiently evaluated not reviewed unknown Array rs12937256 8 122 0.0655738 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - NM_175882 Pro88Leu P88L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NM_175882 Arg123Gln R123Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17763658 11 126 0.0873016 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - NPEPPS Leu282Ile L282I not reviewed Insufficiently evaluated not reviewed unknown Array rs3968301 3 108 0.0277778 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - TTLL6 Leu323Met L323M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GIP Asn146Ser N146S not reviewed Insufficiently evaluated not reviewed unknown Array rs35703924 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF2B Arg36Cys R36C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - BC114339 Trp78Arg W78R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPX Arg340Cys R340C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - HEATR6 Ser396Asn S396N not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - MED13 Ala2037Val A2037V not reviewed Insufficiently evaluated not reviewed unknown Array 132 9692 0.0136195 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRC2 Gly1208Ser G1208S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10710 0.00718954 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARCH10 Glu124Lys E124K not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TACO1 Gly145Ser G145S not reviewed Insufficiently evaluated not reviewed unknown Array rs35252424 166 10758 0.0154304 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 2 - 3 N - - C17ORF72 Thr24Ser T24S not reviewed Insufficiently evaluated not reviewed unknown Array rs62070903 953 3216 0.296331 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ERN1 Asn381Ser N381S not reviewed Insufficiently evaluated not reviewed unknown Array 47 9844 0.00477448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNG4 Asp295Asn D295N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -1 - 0 N - - NOL11 Leu265Val L265V not reviewed Insufficiently evaluated not reviewed unknown Array 321 10758 0.0298383 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - ABCA8 Gly1430Ser G1430S not reviewed Insufficiently evaluated not reviewed unknown Array rs35403175 440 10758 0.0408998 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.462 - - 2 - 1 N - - ABCA8 Thr256Ala T256A not reviewed Insufficiently evaluated not reviewed unknown Array rs16973446 912 10758 0.0847741 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ABCA8 Ala253Gly A253G not reviewed Insufficiently evaluated not reviewed unknown Array rs62638729 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA10 Thr1186Ser T1186S not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - ABCA10 Leu85Val L85V not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDK2 Ser1054Cys S1054C not reviewed Insufficiently evaluated not reviewed unknown Array rs2270724 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM104 Thr28Ala T28A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 1 - 2 N - - FADS6 Tyr162Ser Y162S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10674 9.3685e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RECQL5 Leu64Val L64V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733534 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 1 N - - MRPL38 Ala167Val A167V not reviewed Insufficiently evaluated not reviewed unknown Array 4 124 0.0322581 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBF1 Gly479Arg G479R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744136 9 9838 0.00091482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EVPL Pro509Leu P509L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9730 0.000205549 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEC14L1 Ala581Ser A581S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001001685 Val128Ala V128A not reviewed Insufficiently evaluated not reviewed unknown Array 63 6088 0.0103482 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNRC6C Asn528Ser N528S not reviewed Insufficiently evaluated not reviewed unknown Array 168 10088 0.0166534 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - C17ORF99 Arg43His R43H not reviewed Insufficiently evaluated not reviewed unknown Array rs73375792 70 3234 0.021645 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC036810 Arg286Trp R286W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK057217 Met528Thr M528T not reviewed Insufficiently evaluated not reviewed unknown Array rs59181893 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENGASE Arg555His R555H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729126 291 9814 0.0296515 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ENGASE Gly562Arg G562R not reviewed Insufficiently evaluated not reviewed unknown Array 63 9820 0.00641548 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.453 - - 6 Y 1 N - - SGSH Met394Ile M394I not reviewed Insufficiently evaluated not reviewed unknown Array rs34297805 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - -1 - 3 N - - RNF213 Arg673Lys R673K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RNF213 Ser1286Arg S1286R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF213 Ile2608Thr I2608T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HGS Glu400Asp E400D not reviewed Insufficiently evaluated not reviewed unknown Array rs34868130 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.822 - - -2 - 1 N - - DUS1L Glu348Del E348Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF62 His141Gln H141Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SMCHD1 Asn1434Ser N1434S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMA1 Met525Thr M525T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 2 - 2 N - - NAPG Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array rs16974765 397 9778 0.0406014 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.873 - - 3 - 2 N - - BX649021 Ser176Arg S176R not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP192 His1540Arg H1540R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - C18ORF45 Thr43Met T43M not reviewed Insufficiently evaluated not reviewed unknown Array 297 10758 0.0276074 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C18ORF34 Thr862Ala T862A not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASXL3 His470Pro H470P not reviewed Insufficiently evaluated not reviewed unknown Array 93 9616 0.00967138 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - ASXL3 Arg1606Gln R1606Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 9986 0.00270378 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - MOCOS Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - KIAA1328 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9444 0.000211774 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC14A2 Gly443Ser G443S not reviewed Insufficiently evaluated not reviewed unknown Array rs35245152 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXHD1 Thr1105Met T1105M not reviewed Insufficiently evaluated not reviewed unknown Array rs7244681 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.901 - - 2 - 2 N - - HDHD2 Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7230131 364 10758 0.0338353 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF26 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB27B Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array rs9966265 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 1 - 2 N - - ZNF532 Ala275Val A275V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 2 - 2 N - - CDH20 Val583Met V583M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFRSF11A Val461Met V461M not reviewed Insufficiently evaluated not reviewed unknown Array rs35184120 78 10754 0.00725312 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - SERPINB3 Gly351ValAla G351VA not reviewed Insufficiently evaluated not reviewed unknown Array rs3180227 10 128 0.078125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CDH19 Thr89Ile T89I not reviewed Insufficiently evaluated not reviewed unknown Array 216 10754 0.0200855 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSEL Leu583Val L583V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTTN His1742Arg H1742R not reviewed Insufficiently evaluated not reviewed unknown Array rs285227 48 9722 0.00493725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 1 - 1 N - - CNDP1 Ile434Val I434V not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF407 Arg164Gly R164G not reviewed Insufficiently evaluated not reviewed unknown Array rs74861823 33 9662 0.00341544 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.105 - - 6 Y 0 N - - ZNF407 Ser664Ile S664I not reviewed Insufficiently evaluated not reviewed unknown Array 30 9544 0.00314334 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.636 - - 5 Y 1 N - - SALL3 Leu588Phe L588F not reviewed Insufficiently evaluated not reviewed unknown Array 18 8422 0.00213726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - CTDP1 Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array 278 10758 0.0258412 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.068 Y - 2 - 1 N - - MADCAM1 Glu239Asp E239D not reviewed Insufficiently evaluated not reviewed unknown Array rs71171990 3 10754 0.000278965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POLRMT Cys5Arg C5R not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FGF22 Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.717 - - 2 - 1 N - - WDR18 Leu213Phe L213F not reviewed Insufficiently evaluated not reviewed unknown Array rs35068100 147 10752 0.0136719 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - ABCA7 Arg1932Cys R1932C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10708 0.000560328 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SBNO2 Glu450Leu E450L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF23 Pro3Gln P3Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - REXO1 Ala850Val A850V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741977 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AMH Pro189Leu P189L not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF77 Gly64Arg G64R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - GNA15 Ser114Asn S114N not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK098244 Cys159Arg C159R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TJP3 Arg799Trp R799W not reviewed Insufficiently evaluated not reviewed unknown Array rs35335659 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFR2 Ala883Thr A883T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9810 0.0011213 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - ZFR2 Pro452Gln P452Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 9792 0.0029616 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 4 Y 2 N - - TMIGD2 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array rs61753885 125 10758 0.0116193 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.346 - - 1 - 1 N - - PLIN4 CysSerGlyValThrGlyAlaAlaAsnValAlaLysGlyAlaValGln819ThrThrGlyLeuMetGlyAlaValAsnValAlaLysGlyThrValGln CSGVTGAANVAKGAVQ819TTGLMGAVNVAKGTVQ not reviewed Insufficiently evaluated not reviewed unknown Array rs67542711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLIN4 Gly725Ser G725S not reviewed Insufficiently evaluated not reviewed unknown Array 497 10212 0.0486682 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - PLIN4 Val661Ala V661A not reviewed Insufficiently evaluated not reviewed unknown Array rs73920826 233 10232 0.0227717 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Val592Met V592M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10452 9.5675e-05 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PLIN4 Thr553Met T553M not reviewed Insufficiently evaluated not reviewed unknown Array 111 10098 0.0109923 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.093 - - 2 - 0 N - - TICAM1 Pro367Del P367Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNRF4 Arg5Cys R5C not reviewed Insufficiently evaluated not reviewed unknown Array 49 10534 0.0046516 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.65 - - 8 Y 1 N - - TMEM146 Gln418Arg Q418R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10018 0.000998203 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - ACER1 Arg245Trp R245W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - SLC25A23 Gly390Ser G390S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 2 N - - ARHGEF18 Ser640Leu S640L not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EVI5L Val288Ile V288I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCL25 Arg44Trp R44W not reviewed Insufficiently evaluated not reviewed unknown Array 108 10398 0.0103866 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBN3 Glu1972Lys E1972K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LASS4 Tyr33His Y33H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 0 N - - CD320 Glu257Lys E257K not reviewed Insufficiently evaluated not reviewed unknown Array rs2232786 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 0 - 1 N - - KANK3 AspGlyAspSer489Del DGDS489Del not reviewed Insufficiently evaluated not reviewed unknown Array rs6146458 35 100 0.35 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ANGPTL4 Glu190Gln E190Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - MUC16 Cys12718His C12718H not reviewed Insufficiently evaluated not reviewed unknown Array 4 118 0.0338983 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC16 Leu12545Pro L12545P not reviewed Insufficiently evaluated not reviewed unknown Array 232 9922 0.0233824 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Ala1470Pro A1470P not reviewed Insufficiently evaluated not reviewed unknown Array 17 9920 0.00171371 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RDH8 His27Arg H27R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - NM_018687 Arg112Trp R112W not reviewed Insufficiently evaluated not reviewed unknown Array rs2278426 888 9952 0.0892283 19 0 21 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF878 Arg346Gln R346Q not reviewed Insufficiently evaluated not reviewed unknown Array 122 10648 0.0114576 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF799 Arg17Ile R17I not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC130 Tyr97His Y97H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - BC011002 Glu36Gln E36Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8104055 6 86 0.0697674 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CLEC17A Phe72Leu F72L not reviewed Insufficiently evaluated not reviewed unknown Array 42 9944 0.00422365 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR3 Pro574Leu P574L not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - OR7A17 ProLeu210AspPro PL210DP not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR7C2 Ser309Phe S309F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYP4F22 Ser196Cys S196C not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 3 - 1 N - - CYP4F12 Pro119Leu P119L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731193 190 10712 0.0177371 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.118 - - 7 Y 0 N - - CYP4F12 Asn122Asp N122D not reviewed Insufficiently evaluated not reviewed unknown Array 152 10716 0.0141844 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP4F12 Phe124Ser F124S not reviewed Insufficiently evaluated not reviewed unknown Array 108 10716 0.0100784 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.035 - - 5 Y 0 N - - CYP4F12 His257Arg H257R not reviewed Insufficiently evaluated not reviewed unknown Array 112 10738 0.0104302 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR10H2 Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - OR10H5 Ala19Val A19V not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NWD1 Ala77Thr A77T not reviewed Insufficiently evaluated not reviewed unknown Array rs61750949 239 10758 0.022216 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NWD1 Arg1132Cys R1132C not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CPAMD8 Lys478IlePro K478IP not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPAMD8 Arg298Trp R298W not reviewed Insufficiently evaluated not reviewed unknown Array rs10426545 278 9820 0.0283096 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO9B Val1182Gly V1182G not reviewed Insufficiently evaluated not reviewed unknown Array rs45541337 890 10328 0.0861735 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM129C Arg225Trp R225W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIAA1683 Arg1138Gln R1138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740688 35 10712 0.00326736 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1683 Arg856His R856H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733990 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GMIP Tyr872Phe Y872F not reviewed Insufficiently evaluated not reviewed unknown Array rs34960556 93 10742 0.00865761 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP13A1 Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array 22 3628 0.00606395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF506 Ser160Pro S160P not reviewed Insufficiently evaluated not reviewed unknown Array 244 9776 0.0249591 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_003128 Val2Leu V2L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF826P Arg2Lys R2K not reviewed Insufficiently evaluated not reviewed unknown Array rs10221472 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - ZNF429 Thr140Asn T140N not reviewed Insufficiently evaluated not reviewed unknown Array 115 10554 0.0108963 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF208 Pro900Thr P900T not reviewed Insufficiently evaluated not reviewed unknown Array 4 86 0.0465116 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.721 - - 4 Y 1 N - - ZNF492 Phe486Leu F486L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.515 - - 0 - 1 N - - TDRD12 Ser562Asn S562N not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.552 - - 0 - 1 N - - PEPD Asp189Gly D189G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10026 0.000398962 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.023 - - 4 Y 0 N - - ZNF599 Arg582Gln R582Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ZNF30 Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array rs8100497 198 10222 0.01937 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRAMD1A Thr143Met T143M not reviewed Insufficiently evaluated not reviewed unknown Array 3 9812 0.000305748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - HSPB6 Val92Ala V92A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10718 0.00130621 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - C19ORF46 Arg267Trp R267W not reviewed Insufficiently evaluated not reviewed unknown Array 65 9698 0.00670241 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746638 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752725 4 122 0.0327869 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP14 Glu260Gln E260Q not reviewed Insufficiently evaluated not reviewed unknown Array 278 10758 0.0258412 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.803 - - -2 - 1 N - - CATSPERG Met1137Thr M1137T not reviewed Insufficiently evaluated not reviewed unknown Array rs2286550 429 10758 0.0398773 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCGBP Thr1524Asn T1524N not reviewed Insufficiently evaluated not reviewed unknown Array rs34938990 1073 10744 0.0998697 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.244 - - 1 - 0 N - - CEACAM3 Glu133Gly E133G not reviewed Insufficiently evaluated not reviewed unknown Array rs61736641 148 10758 0.0137572 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC034980 Arg523Leu R523L not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KCNN4 Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF404 Tyr60Cys Y60C not reviewed Insufficiently evaluated not reviewed unknown Array 485 9420 0.0514862 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF221 Thr433Lys T433K not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF230 Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF235 Cys324Ser C324S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZFP112 Tyr389Phe Y389F not reviewed Insufficiently evaluated not reviewed unknown Array 97 10756 0.00901822 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF285A Lys285Glu K285E not reviewed Insufficiently evaluated not reviewed unknown Array rs61358479 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF180 Gly274Arg G274R not reviewed Insufficiently evaluated not reviewed unknown Array 87 10752 0.00809152 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - ZNF180 Asp193His D193H not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLTSCR2 Arg190Gln R190Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM83E Val314Met V314M not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - LHB Thr78Asn T78N not reviewed Insufficiently evaluated not reviewed unknown Array 166 10754 0.0154361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FUZ Ala34Ser A34S not reviewed Insufficiently evaluated not reviewed unknown Array rs35138412 97 8590 0.0112922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PNKP Thr217Ser T217S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.179 - - -2 - 0 N - - NUP62 Gly266Ser G266S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - SIGLEC11 Arg474Gly R474G not reviewed Insufficiently evaluated not reviewed unknown Array rs57682421 4 114 0.0350877 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIGLEC11 Gln333Arg Q333R not reviewed Insufficiently evaluated not reviewed unknown Array rs364111 18 86 0.209302 10 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POLD1 Gln283His Q283H not reviewed Insufficiently evaluated not reviewed unknown Array 120 10678 0.0112381 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SYT3 Ala507Thr A507T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - KLK11 Glu207Lys E207K not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - KLK12 Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array rs61910728 55 10750 0.00511628 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - ZNF577 Arg116Cys R116C not reviewed Insufficiently evaluated not reviewed unknown Array rs17849895 15 128 0.117188 9 0 11 0 0 - - - - - - - - - - - - - - - - 0.059 - - 8 Y 0 N - - ZNF808 Asn514Ser N514S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRP12 Arg919Trp R919W not reviewed Insufficiently evaluated not reviewed unknown Array rs61741349 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TFPT Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - LILRB3 Val575Ala V575A not reviewed Insufficiently evaluated not reviewed unknown Array rs1053011 303 10722 0.0282597 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB2 PheIle326SerLeu FI326SL not reviewed Insufficiently evaluated not reviewed unknown Array 14 120 0.116667 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KIR3DL2 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745893 380 9388 0.0404772 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - KIR3DL2 Pro132Thr P132T not reviewed Insufficiently evaluated not reviewed unknown Array rs3745894 36 1426 0.0252454 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.46 - - 4 Y 1 N - - PPP6R1 Ser507Ala S507A not reviewed Insufficiently evaluated not reviewed unknown Array 380 10132 0.0375049 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ZNF628 Gly751Ser G751S not reviewed Insufficiently evaluated not reviewed unknown Array 703 9688 0.072564 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF471 Phe333Cys F333C not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 4 Y 1 N - - ZNF470 Pro536Leu P536L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF17 Ile631Val I631V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10726 0.0014917 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - -4 - 1 N - - ZNF154 Thr157Ile T157I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10550 0.000379146 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ZNF671 Gly403Glu G403E not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF671 Leu101Pro L101P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF587 Glu189Ala E189A not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - C19ORF18 His208Tyr H208Y not reviewed Insufficiently evaluated not reviewed unknown Array rs8110831 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - A1BG Ala170Val A170V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF497 Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732979 107 10260 0.0104288 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF90 Gly208Asp G208D not reviewed Insufficiently evaluated not reviewed unknown Array 46 9898 0.0046474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NTSR2 Pro382Thr P382T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - C2ORF39 LysAlaSerMetGlu574Del KASME574Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C2ORF18 Arg348Gln R348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61738493 143 10756 0.0132949 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGBL5 Gly649Asp G649D not reviewed Insufficiently evaluated not reviewed unknown Array rs35804461 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - EMILIN1 Leu72Val L72V not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - EMILIN1 Ala391Ser A391S not reviewed Insufficiently evaluated not reviewed unknown Array 25 9994 0.0025015 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EMILIN1 Gln536Arg Q536R not reviewed Insufficiently evaluated not reviewed unknown Array rs36069611 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - 0 - 1 N - - SLC30A3 Pro264Leu P264L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF16 Lys696Glu K696E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM179A Asp475Tyr D475Y not reviewed Insufficiently evaluated not reviewed unknown Array 132 10196 0.0129463 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.489 - - 7 Y 1 N - - XDH Val1091Leu V1091L not reviewed Insufficiently evaluated not reviewed unknown Array rs45619033 31 10758 0.00288158 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.116 Y - 0 - 1 N - - TTC27 Ala674Glu A674E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 2 N - - CR624999 Met55Arg M55R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFP36L2 Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array rs11675632 670 10728 0.0624534 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - DYNC2LI1 Glu172Lys E172K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - SRBD1 Thr361Met T361M not reviewed Insufficiently evaluated not reviewed unknown Array rs6544834 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - SMEK2 Asn184His N184H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.278 - - 0 - 1 N - - PNPT1 Ile138Val I138V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - USP34 Asp3487His D3487H not reviewed Insufficiently evaluated not reviewed unknown Array 42 9794 0.00428834 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP68 Arg462Cys R462C not reviewed Insufficiently evaluated not reviewed unknown Array rs35694840 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - ETAA1 Asp806Glu D806E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.196 - - -2 - 0 N - - PROKR1 Ala102Thr A102T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - ARHGAP25 Arg561Gln R561Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734449 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANTXR1 Ala518Val A518V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10750 0.00409302 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPHOSPH10 Ser41Tyr S41Y not reviewed Insufficiently evaluated not reviewed unknown Array 221 10600 0.0208491 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.418 - - 5 Y 1 N - - MPHOSPH10 Asn154Ser N154S not reviewed Insufficiently evaluated not reviewed unknown Array 258 10758 0.0239822 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP26B1 Arg473Cys R473C not reviewed Insufficiently evaluated not reviewed unknown Array rs61751056 61 10756 0.00567125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.864 - - 8 Y 2 N - - DUSP11 Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - REG3G Pro168Leu P168L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746408 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RGPD1 Arg1353Met R1353M not reviewed Insufficiently evaluated not reviewed unknown Array rs2674190 5 104 0.0480769 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TEKT4 Arg82Pro R82P not reviewed Insufficiently evaluated not reviewed unknown Array 16 36 0.444444 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 1 N - - TEKT4 Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array 19 64 0.296875 17 0 17 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 1 N - - TEKT4 Thr90Arg T90R not reviewed Insufficiently evaluated not reviewed unknown Array 19 60 0.316667 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TEKT4 Arg255His R255H not reviewed Insufficiently evaluated not reviewed unknown Array 11 58 0.189655 11 0 11 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 1 N - - ANKRD36B Ile248Thr I248T not reviewed Insufficiently evaluated not reviewed unknown Array 6 120 0.05 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - RANBP2 Asn75Lys N75K not reviewed Insufficiently evaluated not reviewed unknown Array 21 7134 0.00294365 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.734 - - 1 - 1 N - - ACOXL Arg264Trp R264W not reviewed Insufficiently evaluated not reviewed unknown Array rs61730481 193 10758 0.0179401 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DPP10 Leu602Arg L602R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPN18 ThrGly378Del TG378Del not reviewed Insufficiently evaluated not reviewed unknown Array 9 58 0.155172 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GPR148 Ala14Gly A14G not reviewed Insufficiently evaluated not reviewed unknown Array 815 10758 0.0757576 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.586 - - 1 - 0 N - - FAM123C Gly807Asp G807D not reviewed Insufficiently evaluated not reviewed unknown Array 316 10728 0.0294556 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.358 - - 4 Y 1 N - - NM_001077637 Lys127Arg K127R not reviewed Insufficiently evaluated not reviewed unknown Array rs71428571 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NR_002826 Tyr254Asn Y254N not reviewed Insufficiently evaluated not reviewed unknown Array 5 120 0.0416667 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MZT2A Thr154Met T154M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10712 0.00186706 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - AK123346 Thr129Ile T129I not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCKAP5 Gln1583Glu Q1583E not reviewed Insufficiently evaluated not reviewed unknown Array 3 9750 0.000307692 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - YSK4 Asn950Ser N950S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10750 0.00446512 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.309 - - 0 - 1 N - - TNFAIP6 Ile2Asn I2N not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.863 - - 7 Y 2 N - - FMNL2 Tyr352Cys Y352C not reviewed Insufficiently evaluated not reviewed unknown Array rs34119671 96 9760 0.00983606 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - TANC1 Val728Met V728M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10128 0.00217219 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PLA2R1 Gly1425Ser G1425S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FIGN Ser439Cys S439C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - SCN7A Lys735Arg K735R not reviewed Insufficiently evaluated not reviewed unknown Array 65 9616 0.00675957 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -3 - 0 N - - XIRP2 Pro1888His P1888H not reviewed Insufficiently evaluated not reviewed unknown Array 15 9710 0.0015448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRP2 Arg819His R819H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 1 - 3 N - - FASTKD1 His600Val H600V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HOXD3 Thr38Met T38M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.909 - - 2 - 2 N - - ITGA4 Ser634Thr S634T not reviewed Insufficiently evaluated not reviewed unknown Array rs35322532 175 9498 0.0184249 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CERKL Glu488Gly E488G not reviewed Insufficiently evaluated not reviewed unknown Array rs35955809 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 6 Y 2 N - - CERKL Ser100Ala S100A not reviewed Insufficiently evaluated not reviewed unknown Array rs34753159 93 10752 0.00864955 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.11 - - -1 - 0 N - - ANKAR Tyr367Ser Y367S not reviewed Insufficiently evaluated not reviewed unknown Array 62 10736 0.00577496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MSTN Arg65His R65H not reviewed Insufficiently evaluated not reviewed unknown Array rs34094280 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.971 - Y 1 - 3 N - - HECW2 Pro134Ser P134S not reviewed Insufficiently evaluated not reviewed unknown Array rs61752169 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CCDC150 His6Arg H6R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743572 59 9866 0.00598013 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.965 - - 1 - 2 N - - CCDC150 Ala398Thr A398T not reviewed Insufficiently evaluated not reviewed unknown Array 55 9832 0.00559398 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC150 Ser625Thr S625T not reviewed Insufficiently evaluated not reviewed unknown Array 83 9544 0.00869656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - CFLAR Met120Val M120V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.88 - - 0 - 2 N - - ALS2CR12 Val80Leu V80L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALS2CR11 Leu1140Arg L1140R not reviewed Insufficiently evaluated not reviewed unknown Array rs60833106 23 3224 0.007134 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALS2CR11 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - ALS2CR4 Asn55Ser N55S not reviewed Insufficiently evaluated not reviewed unknown Array 13 9562 0.00135955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF67 Ala662Asp A662D not reviewed Insufficiently evaluated not reviewed unknown Array 158 10734 0.0147196 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF67 Ala325Thr A325T not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATIC Asn94Ser N94S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10756 0.00418371 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNS1 Arg1116His R1116H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745431 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC108 Arg1545Gln R1545Q not reviewed Insufficiently evaluated not reviewed unknown Array 106 10734 0.00987516 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ATG9A Thr775Ala T775A not reviewed Insufficiently evaluated not reviewed unknown Array 48 9686 0.00495561 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAJB2 Gly270Arg G270R not reviewed Insufficiently evaluated not reviewed unknown Array rs34127289 136 10752 0.0126488 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - PTPRN Gly11Trp G11W not reviewed Insufficiently evaluated not reviewed unknown Array 31 7790 0.00397946 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STK11IP Asp406Gly D406G not reviewed Insufficiently evaluated not reviewed unknown Array 1 9948 0.000100522 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - KIAA1486 Gly126Asn G126N not reviewed Insufficiently evaluated not reviewed unknown Array rs61752215 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SP140L Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 10106 0.00583811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - SP100 Cys309Arg C309R not reviewed Insufficiently evaluated not reviewed unknown Array rs35506327 173 10758 0.0160811 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - ITM2C Ala39Pro A39P not reviewed Insufficiently evaluated not reviewed unknown Array 12 9834 0.00122026 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 2 - 1 N - - B3GNT7 Val22Met V22M not reviewed Insufficiently evaluated not reviewed unknown Array 40 10462 0.00382336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - GIGYF2 Pro423Leu P423L not reviewed Insufficiently evaluated not reviewed unknown Array rs34845648 161 10758 0.0149656 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - BC042133 Thr82Ala T82A not reviewed Insufficiently evaluated not reviewed unknown Array rs28900694 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SH3BP4 Arg726Trp R726W not reviewed Insufficiently evaluated not reviewed unknown Array 54 10752 0.00502232 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - CXCR7 Val230Ile V230I not reviewed Insufficiently evaluated not reviewed unknown Array rs35095494 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCLY Ile86Met I86M not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.326 - - -1 - 1 N - - SCLY Val326Ile V326I not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KLHL30 Ser376Asn S376N not reviewed Insufficiently evaluated not reviewed unknown Array 230 9694 0.023726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR607186 Thr72Met T72M not reviewed Insufficiently evaluated not reviewed unknown Array rs6740794 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC132948 Gln56Arg Q56R not reviewed Insufficiently evaluated not reviewed unknown Array 55 3234 0.0170068 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC132948 Ser114Ala S114A not reviewed Insufficiently evaluated not reviewed unknown Array 55 3234 0.0170068 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRR21 His30Tyr H30Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - DEFB132 Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SIRPB1 Arg218His R218H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731659 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SLC4A11 Asn150Ser N150S not reviewed Insufficiently evaluated not reviewed unknown Array rs34520315 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CENPB Glu419Del E419Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 116 0.0258621 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC031676 Gly43Asp G43D not reviewed Insufficiently evaluated not reviewed unknown Array rs506913 10 96 0.104167 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TASP1 Ser21Leu S21L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF12 Gly59Asp G59D not reviewed Insufficiently evaluated not reviewed unknown Array 6 9450 0.00063492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GZF1 GluGluGluGluGluGluGlu300Del EEEEEEE300Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NAPB Phe214Leu F214L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CST4 Pro67Leu P67L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.358 - - 7 Y 1 N - - ENTPD6 Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34007133 442 10758 0.0410857 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - BC128043 Pro86Leu P86L not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DEFB124 Pro64Leu P64L not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - NCOA6 Phe467Cys F467C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - MYH7B Gly796Asp G796D not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FER1L4 Asp53Ala D53A not reviewed Insufficiently evaluated not reviewed unknown Array rs41293076 17 124 0.137097 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GHRH Leu75Phe L75F not reviewed Insufficiently evaluated not reviewed unknown Array rs4988492 398 10758 0.0369957 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TGM2 Val542Phe V542F not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 3 - 1 N - - SNX21 Ala112Gly A112G not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - TP53RK Thr8Met T8M not reviewed Insufficiently evaluated not reviewed unknown Array 68 7186 0.00946284 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - PTGIS Arg236Cys R236C not reviewed Insufficiently evaluated not reviewed unknown Array rs5626 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - TSHZ2 Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CTCFL Arg448His R448H not reviewed Insufficiently evaluated not reviewed unknown Array rs6092491 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APCDD1L Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7265902 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SYCP2 Pro1139Leu P1139L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SYCP2 Gln962Arg Q962R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10740 0.00353818 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - OSBPL2 His264Gln H264Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - -1 - 0 N - - LAMA5 Arg3454Gln R3454Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10534 0.00332257 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - C20ORF151 Pro163Leu P163L not reviewed Insufficiently evaluated not reviewed unknown Array 261 10748 0.0242836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001037335 Ala1786Val A1786V not reviewed Insufficiently evaluated not reviewed unknown Array rs11906845 22 7420 0.00296496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001037335 Arg1422Gln R1422Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742353 102 10516 0.0096995 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NM_001037335 Pro531Leu P531L not reviewed Insufficiently evaluated not reviewed unknown Array rs11905760 46 10670 0.00431115 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - NM_001013729 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 2 90 0.0222222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001013729 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCC13 Gly225Glu G225E not reviewed Insufficiently evaluated not reviewed unknown Array rs2403768 11 126 0.0873016 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.855 - - 6 Y 1 N - - C21ORF91 Gln195His Q195H not reviewed Insufficiently evaluated not reviewed unknown Array rs8128004 94 9830 0.00956256 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LTN1 Gly1183Ala G1183A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFNAR2 Cys271Tyr C271Y not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TTC3 Asp1259Asn D1259N not reviewed Insufficiently evaluated not reviewed unknown Array rs61998247 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - -1 - 0 N - - IGSF5 Asn156Lys N156K not reviewed Insufficiently evaluated not reviewed unknown Array rs11908882 310 10758 0.0288158 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 2 N - - UMODL1 Asp138Asn D138N not reviewed Insufficiently evaluated not reviewed unknown Array 73 9836 0.00742172 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - KRTAP10-4 SerCysCysAlaPro45Del SCCAP45Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C21ORF67 Ala126Thr A126T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741570 68 3234 0.0210266 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AB020626 Gln120Arg Q120R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRODH Ala472Thr A472T not reviewed Insufficiently evaluated not reviewed unknown Array rs2870983 536 10758 0.0498234 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - C22ORF25 Glu210Lys E210K not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTN4R Glu392Ala E392A not reviewed Insufficiently evaluated not reviewed unknown Array 1 42 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - BC065749 Leu104Phe L104F not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.197 - - 0 - 0 N - - RIMBP3B Asp882Glu D882E not reviewed Insufficiently evaluated not reviewed unknown Array rs468289 24 24 1 10 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - HIC2 Pro362Leu P362L not reviewed Insufficiently evaluated not reviewed unknown Array rs80230662 254 9670 0.0262668 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - RIMBP3C Asp882Glu D882E not reviewed Insufficiently evaluated not reviewed unknown Array rs468289 24 24 1 10 0 20 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CCDC116 Val252Met V252M not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - PRAME Leu47Phe L47F not reviewed Insufficiently evaluated not reviewed unknown Array rs61730835 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTDR1 Thr184Ile T184I not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - IGLL1 Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10504 0.00161843 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.079 - - 8 Y 0 N - - C22ORF15 Gly129Arg G129R not reviewed Insufficiently evaluated not reviewed unknown Array rs61160578 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001013618 His56Tyr H56Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28520031 340 10754 0.0316161 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSCB Ile163Met I163M not reviewed Insufficiently evaluated not reviewed unknown Array rs17884212 235 10758 0.0218442 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SFI1 Leu894Arg L894R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10088 0.00406423 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - LARGE Thr101Ser T101S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - -2 - 1 N - - CSF2RB Pro696Ser P696S not reviewed Insufficiently evaluated not reviewed unknown Array rs16997517 569 10758 0.0528909 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 1 N - - CARD10 Ala382Thr A382T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746683 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - TRIOBP Glu128Asp E128D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10506 0.000190367 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.264 Y - -2 - 2 N - - GALR3 Asp3Ala D3A not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - APOBEC3F Arg48Pro R48P not reviewed Insufficiently evaluated not reviewed unknown Array rs56406663 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CACNA1I Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array rs60192012 334 10408 0.0320907 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MKL1 Pro180Ala P180A not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - ST13 Asn292Ser N292S not reviewed Insufficiently evaluated not reviewed unknown Array 129 10750 0.012 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - CYP2D6 Glu155Lys E155K not reviewed Insufficiently evaluated not reviewed unknown Array rs28371710 116 10334 0.0112251 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2D7P1 Lys320Glu K320E not reviewed Insufficiently evaluated not reviewed unknown Array rs2070907 11 90 0.122222 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CYP2D7P1 Leu239Arg L239R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCF20 Gly57Ser G57S not reviewed Insufficiently evaluated not reviewed unknown Array 5 22 0.227273 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ARFGAP3 Gln511His Q511H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ARFGAP3 Ile316Phe I316F not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.684 - - 2 - 1 N - - TTLL12 Pro93Arg P93R not reviewed Insufficiently evaluated not reviewed unknown Array 12 126 0.0952381 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 1 N - - PRR5-ARHGAP8 Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF26 Gly55Asp G55D not reviewed Insufficiently evaluated not reviewed unknown Array 12 8896 0.00134892 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC036832 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKDREJ Ala179Thr A179T not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 1 - 2 N - - GTSE1 Val159Leu V159L not reviewed Insufficiently evaluated not reviewed unknown Array rs35141277 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GTSE1 Ala505Thr A505T not reviewed Insufficiently evaluated not reviewed unknown Array 5 122 0.0409836 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRMU Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array rs35338668 138 10758 0.0128277 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 2 - 1 N - - CU013372 Asn139Lys N139K not reviewed Insufficiently evaluated not reviewed unknown Array rs73888468 13 124 0.104839 13 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CU013372 Ala58Pro A58P not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C22ORF34 Pro5Leu P5L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTLL8 Pro97Ala P97A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 2 N - - CNTN6 Ile1024Leu I1024L not reviewed Insufficiently evaluated not reviewed unknown Array 88 10752 0.00818452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SETMAR Asp225Ala D225A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731496 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAD18 Lys110Glu K110E not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 0 - 1 N - - SETD5 Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs41387348 63 10044 0.0062724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - TTLL3 Asp90Asn D90N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - PPARG Val335Leu V335L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.273 Y - 0 - 2 N - - IQSEC1 Ile683Val I683V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IQSEC1 Arg291His R291H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.254 - - 1 - 1 N - - TPRXL Ser219Thr S219T not reviewed Insufficiently evaluated not reviewed unknown Array 16 40 0.4 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C3ORF20 Val88Ala V88A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF20 Ala689Val A689V not reviewed Insufficiently evaluated not reviewed unknown Array rs34045813 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HACL1 Glu519Lys E519K not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - GALNTL2 Ala581Ser A581S not reviewed Insufficiently evaluated not reviewed unknown Array rs34908493 218 10758 0.020264 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - OXSM Stop460Gln X460Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9851096 500 10748 0.0465203 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXL2 Asn364Ser N364S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRFIP2 Ser291Arg S291R not reviewed Insufficiently evaluated not reviewed unknown Array rs28758697 109 10722 0.010166 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - C3ORF35 Phe32Leu F32L not reviewed Insufficiently evaluated not reviewed unknown Array 133 9552 0.0139238 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF35 Ala159Thr A159T not reviewed Insufficiently evaluated not reviewed unknown Array 92 9676 0.00950806 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAK1 Asn911Ser N911S not reviewed Insufficiently evaluated not reviewed unknown Array 101 10112 0.00998813 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.927 - - 0 - 2 N - - ZNF197 Arg475Cys R475C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LTF Val357Leu V357L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10742 0.0013033 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - NBEAL2 Ala786Thr A786T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10000 0.0026 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - CELSR3 Asp4023Asn D4023N not reviewed Insufficiently evaluated not reviewed unknown Array rs59643945 613 10214 0.0600157 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - TLR9 Arg863Gln R863Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5743845 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 0 - 1 N - - DNAH1 Asn1530Asp N1530D not reviewed Insufficiently evaluated not reviewed unknown Array 104 10414 0.00998656 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC113059 Ser92Ile S92I not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LRTM1 Glu265Gln E265Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735200 87 10758 0.008087 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - CCDC66 Ala439Val A439V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743979 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF63 Ala831Gly A831G not reviewed Insufficiently evaluated not reviewed unknown Array rs17056999 340 10758 0.0316044 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPP14 Lys69Arg K69R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - SUCLG2 Lys347Arg K347R not reviewed Insufficiently evaluated not reviewed unknown Array rs9843840 178 9820 0.0181263 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - LMOD3 Gln409Arg Q409R not reviewed Insufficiently evaluated not reviewed unknown Array 118 9928 0.0118856 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - FAM86DP Trp185Arg W185R not reviewed Insufficiently evaluated not reviewed unknown Array rs11128433 4 12 0.333333 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ZNF717 Cys183Pro C183P not reviewed Insufficiently evaluated not reviewed unknown Array 12 54 0.222222 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - NSUN3 Ile251Val I251V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730354 229 10758 0.0212865 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - CRYBG3 Ile700Thr I700T not reviewed Insufficiently evaluated not reviewed unknown Array 63 9594 0.0065666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR5H1 Ser148Thr S148T not reviewed Insufficiently evaluated not reviewed unknown Array rs5009896 6 86 0.0697674 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - OR5H1 Val150Ile V150I not reviewed Insufficiently evaluated not reviewed unknown Array rs5009895 6 110 0.0545455 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - OR5H1 Gly151Ala G151A not reviewed Insufficiently evaluated not reviewed unknown Array rs5009894 6 110 0.0545455 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR5H14 Tyr252His Y252H not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - OR5H14 Ala256Asp A256D not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 5 Y 0 N - - OR5H6 His35Tyr H35Y not reviewed Insufficiently evaluated not reviewed unknown Array 338 10756 0.0314243 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GPR15 Tyr132Ser Y132S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - GPR15 Phe159Ile F159I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736100 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - DCBLD2 Ala66Gly A66G not reviewed Insufficiently evaluated not reviewed unknown Array 21 8652 0.00242718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001093779 Trp82Cys W82C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MORC1 Lys273Asn K273N not reviewed Insufficiently evaluated not reviewed unknown Array 88 10748 0.00818757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - PHLDB2 Pro897Ser P897S not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIDT1 Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array rs9879313 228 3364 0.0677765 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SIDT1 Gly23Arg G23R not reviewed Insufficiently evaluated not reviewed unknown Array rs13327031 441 9750 0.0452308 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.679 - - 6 Y 1 N - - GAP43 Glu225Lys E225K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 0 - 1 N - - C3ORF30 Arg481Cys R481C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGAP31 Pro567Leu P567L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744178 203 9832 0.0206469 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - CD80 Thr233Ile T233I not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - GTF2E1 Glu307Lys E307K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - POLQ Val2183Ile V2183I not reviewed Insufficiently evaluated not reviewed unknown Array rs3218648 180 10756 0.0167348 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POLQ Arg1953Gln R1953Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3218637 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLQ Gly1256Glu G1256E not reviewed Insufficiently evaluated not reviewed unknown Array rs3218640 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLGB1 Lys137Arg K137R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - ILDR1 Arg389Gln R389Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35906279 259 10758 0.0240751 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC41A3 Ala465Gly A465G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - SLC41A3 Ile421Val I421V not reviewed Insufficiently evaluated not reviewed unknown Array 258 10758 0.0239822 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - -4 - 0 N - - C3ORF25 Asp317Asn D317N not reviewed Insufficiently evaluated not reviewed unknown Array 145 10476 0.0138412 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP2C1 Leu541Phe L541F not reviewed Insufficiently evaluated not reviewed unknown Array rs61731516 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.738 Y - 0 - 2 N - - ASTE1 Ile417Met I417M not reviewed Insufficiently evaluated not reviewed unknown Array rs34597185 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - RYK Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R3A Met1011Val M1011V not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ZBTB38 Gly1189Ser G1189S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9554 0.000209336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLSCR5 Arg110Ser R110S not reviewed Insufficiently evaluated not reviewed unknown Array rs12107687 161 9830 0.0163784 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - TSC22D2 Gly497Ser G497S not reviewed Insufficiently evaluated not reviewed unknown Array rs36123462 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EIF2A Asp504Gly D504G not reviewed Insufficiently evaluated not reviewed unknown Array 13 9102 0.00142826 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - FAM194A Leu426Val L426V not reviewed Insufficiently evaluated not reviewed unknown Array rs73003074 1904 10758 0.176985 20 0 21 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - VEPH1 Thr576Ala T576A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - C3ORF55 Val4Leu V4L not reviewed Insufficiently evaluated not reviewed unknown Array rs7616293 223 9844 0.0226534 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLIM4 Glu502Gly E502G not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - BC105690 Gln174Arg Q174R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SKIL Thr179Ile T179I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.309 - - 3 - 1 N - - PEX5L Gln173His Q173H not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.824 - - -1 - 1 N - - KLHL6 Arg308His R308H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - ECE2 Arg571Gln R571Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35875049 365 10758 0.0339282 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.797 - - 0 - 1 N - - SENP2 Asn238Asp N238D not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - FETUB Ala195Val A195V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 2 - 2 N - - BX648496 Val41Ile V41I not reviewed Insufficiently evaluated not reviewed unknown Array rs16861893 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC50 Lys426Glu K426E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - AX746839 Gln32Arg Q32R not reviewed Insufficiently evaluated not reviewed unknown Array rs56232719 4 128 0.03125 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM44 Gln339Arg Q339R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM43A Glu297Lys E297K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743405 132 10668 0.0123735 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 0 - 1 N - - BC073879 Arg27Gly R27G not reviewed Insufficiently evaluated not reviewed unknown Array rs2688561 1 10 0.1 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC073879 Arg31Gly R31G not reviewed Insufficiently evaluated not reviewed unknown Array rs2688562 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC4 Ala4110Thr A4110T not reviewed Insufficiently evaluated not reviewed unknown Array rs58992709 839 10384 0.0807974 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Ala925Glu A925E not reviewed Insufficiently evaluated not reviewed unknown Array 33 10484 0.00314765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNK2 Pro662Ser P662S not reviewed Insufficiently evaluated not reviewed unknown Array 97 9588 0.0101168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AF088032 Asp98His D98H not reviewed Insufficiently evaluated not reviewed unknown Array 3 90 0.0333333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BDH1 Val215Ile V215I not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - IQCG Glu313Ala E313A not reviewed Insufficiently evaluated not reviewed unknown Array rs36078246 46 10758 0.00427589 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - ZNF721 Asn179Thr N179T not reviewed Insufficiently evaluated not reviewed unknown Array 158 10508 0.0150362 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC3 Pro378Leu P378L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - LETM1 Lys606Arg K606R not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - -3 - 2 N - - STK32B Gln390Lys Q390K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729661 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C4ORF50 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MAN2B2 Gln702Glu Q702E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAN2B2 Ala841Val A841V not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR78 Glu5Lys E5K not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.788 - - 0 - 1 N - - SLC2A9 Arg300Cys R300C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 8 Y 2 N - - BC113726 Trp80Arg W80R not reviewed Insufficiently evaluated not reviewed unknown Array rs1532346 8 106 0.0754717 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CD38 Glu61Leu E61L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAPT1 Glu465Lys E465K not reviewed Insufficiently evaluated not reviewed unknown Array rs35606284 72 10156 0.0070894 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC149 Arg503Trp R503W not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEL1L3 Phe267Leu F267L not reviewed Insufficiently evaluated not reviewed unknown Array 75 9904 0.0075727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - AX748249 Pro112Leu P112L not reviewed Insufficiently evaluated not reviewed unknown Array rs58921482 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLR1 His118Tyr H118Y not reviewed Insufficiently evaluated not reviewed unknown Array rs5743612 283 10758 0.026306 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.606 - - -1 - 1 N - - TLR6 Ala474Thr A474T not reviewed Insufficiently evaluated not reviewed unknown Array rs35762983 283 10758 0.026306 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIMCH1 Ile506Phe I506F not reviewed Insufficiently evaluated not reviewed unknown Array rs73810294 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LIMCH1 Asp942Gly D942G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GUF1 Ile503Val I503V not reviewed Insufficiently evaluated not reviewed unknown Array 166 10716 0.0154909 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CWH43 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array 161 10756 0.0149684 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK095318 Arg513Cys R513C not reviewed Insufficiently evaluated not reviewed unknown Array rs4132835 165 3234 0.0510204 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AK095318 Cys249Ser C249S not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NMU Glu79Gly E79G not reviewed Insufficiently evaluated not reviewed unknown Array rs35892915 273 10758 0.0253765 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.881 - - 6 Y 2 N - - CEP135 Ala559Thr A559T not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPRSS11F Asp124Asn D124N not reviewed Insufficiently evaluated not reviewed unknown Array rs1438391 429 10758 0.0398773 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT2B7 Thr179Ile T179I not reviewed Insufficiently evaluated not reviewed unknown Array rs60103519 81 10754 0.00753208 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSN1S1 Asp157His D157H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSN3 Val140Ile V140I not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AMBN Met285Ile M285I not reviewed Insufficiently evaluated not reviewed unknown Array 387 10758 0.0359732 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.71 - - -1 - 1 N - - BMP2K Ile1136Thr I1136T not reviewed Insufficiently evaluated not reviewed unknown Array 112 9930 0.011279 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - NAA11 Leu19Phe L19F not reviewed Insufficiently evaluated not reviewed unknown Array rs17003712 151 10734 0.0140674 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.182 - - 0 - 0 N - - HSP90AB3P His257Pro H257P not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - HSP90AB3P Glu326Val E326V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - HERC6 Thr613Ile T613I not reviewed Insufficiently evaluated not reviewed unknown Array rs6532068 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GRID2 His960Asp H960D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATOH1 Pro225Arg P225R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10750 0.000465116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.287 - - 5 Y 1 N - - ADH4 Ile78Thr I78T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734619 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPNT Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AIMP1 Thr104Ala T104A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230254 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSTC Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CCDC109B Ile167Val I167V not reviewed Insufficiently evaluated not reviewed unknown Array rs1053680 9 128 0.0703125 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RRH Ser18Leu S18L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - 6 Y 1 N - - LRIT3 Thr436Met T436M not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNPO2 Ile808Val I808V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - C4ORF31 Ser140Asn S140N not reviewed Insufficiently evaluated not reviewed unknown Array 113 9890 0.0114257 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1109 Pro3699Thr P3699T not reviewed Insufficiently evaluated not reviewed unknown Array 118 9614 0.0122738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - PABPC4L Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HHIP Val404Met V404M not reviewed Insufficiently evaluated not reviewed unknown Array rs34033277 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ARHGAP10 Ser600Leu S600L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 6 Y 0 N - - ARHGAP10 Glu621Asp E621D not reviewed Insufficiently evaluated not reviewed unknown Array rs61758693 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DCHS2 Pro2842Leu P2842L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746111 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FNIP2 Met677Thr M677T not reviewed Insufficiently evaluated not reviewed unknown Array rs62001912 234 10018 0.023358 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - NAF1 Pro43Ser P43S not reviewed Insufficiently evaluated not reviewed unknown Array rs12331663 342 10206 0.0335097 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SC4MOL Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array rs34499452 238 10756 0.0221272 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SPOCK3 Ile436Asn I436N not reviewed Insufficiently evaluated not reviewed unknown Array 147 10756 0.0136668 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM29 Thr308Ile T308I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - CCDC111 Thr82Ala T82A not reviewed Insufficiently evaluated not reviewed unknown Array 353 10758 0.0328128 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 1 N - - KIAA1430 Ile162Thr I162T not reviewed Insufficiently evaluated not reviewed unknown Array 51 9782 0.00521366 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUBB4Q Ser60Pro S60P not reviewed Insufficiently evaluated not reviewed unknown Array rs9884710 13 66 0.19697 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PLEKHG4B Val203Ile V203I not reviewed Insufficiently evaluated not reviewed unknown Array 190 10750 0.0176744 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - SDHA Thr508Ile T508I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.281 Y - 3 - 2 N - - ZDHHC11 Val298Phe V298F not reviewed Insufficiently evaluated not reviewed unknown Array rs28461719 8 10758 0.000743632 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZDHHC11 Asp295His D295H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - IRX4 Gly7Arg G7R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8020 0.000124688 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - C5ORF38 Arg7Pro R7P not reviewed Insufficiently evaluated not reviewed unknown Array 38 10324 0.00368074 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0947 Gly314Ser G314S not reviewed Insufficiently evaluated not reviewed unknown Array 194 9772 0.0198526 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0947 Val1016Gly V1016G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10048 0.00169188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ZNF622 Lys146Asn K146N not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - MYO10 Ala651Glu A651E not reviewed Insufficiently evaluated not reviewed unknown Array 8 9726 0.000822537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EGFLAM Gln84Arg Q84R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARD6 Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array rs34539085 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CARD6 Thr972Ala T972A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748218 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EMB Leu227Pro L227P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 7 Y 2 N - - EMB Arg128Ser R128S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10682 0.00149785 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.775 - - 3 - 1 N - - ANKRD55 Cys351Phe C351F not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF44 Lys128Arg K128R not reviewed Insufficiently evaluated not reviewed unknown Array rs7714222 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POC5 Glu82Asp E82D not reviewed Insufficiently evaluated not reviewed unknown Array 452 9342 0.0483836 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - WDR41 Arg347His R347H not reviewed Insufficiently evaluated not reviewed unknown Array rs35774719 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TMEM232 Ser335Asn S335N not reviewed Insufficiently evaluated not reviewed unknown Array rs73224392 98 3234 0.030303 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC25A46 Glu379Asp E379D not reviewed Insufficiently evaluated not reviewed unknown Array 403 10756 0.0374675 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - EPB41L4A Arg441His R441H not reviewed Insufficiently evaluated not reviewed unknown Array 66 9984 0.00661058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DMXL1 Gln2531His Q2531H not reviewed Insufficiently evaluated not reviewed unknown Array rs17144974 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - MEGF10 Arg349His R349H not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF15 Thr492Met T492M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TRPM2 Val466Met V466M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKHD1-EIF4EBP3 Ser918Leu S918L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMCO6 Phe103Leu F103L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741389 59 10286 0.00573595 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - PCDHB18 Gln472His Q472H not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.879 - - -1 - 2 N - - FCHSD1 Pro303Leu P303L not reviewed Insufficiently evaluated not reviewed unknown Array 35 9748 0.00359048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - PCDH12 Glu1023Ala E1023A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737141 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.358 - - 3 - 1 N - - TCERG1 Pro279Leu P279L not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF62 Asn11Lys N11K not reviewed Insufficiently evaluated not reviewed unknown Array rs12653537 572 7514 0.0761246 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C5ORF62 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array rs12653541 556 7494 0.0741927 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - C5ORF62 Glu32Ala E32A not reviewed Insufficiently evaluated not reviewed unknown Array rs12657686 551 7518 0.0732908 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM114A2 His236Gln H236Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GEMIN5 Leu1276Val L1276V not reviewed Insufficiently evaluated not reviewed unknown Array rs35562111 156 10722 0.0145495 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - HAVCR1 Ile196Val I196V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF145 Pro674Ser P674S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WWC1 MetSer734IleAla MS734IA not reviewed Insufficiently evaluated not reviewed unknown Array rs3822660 22 128 0.171875 18 0 18 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - RARS Glu7Gln E7Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10570 0.000851466 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BX648961 His218Leu H218L not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDHR2 Leu6Pro L6P not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EIF4E1B Val204Ile V204I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10524 0.000285062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UNC5A Val570Ile V570I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736275 249 10750 0.0231628 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001080544 Thr119Met T119M not reviewed Insufficiently evaluated not reviewed unknown Array rs11951603 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CANX Glu540Gly E540G not reviewed Insufficiently evaluated not reviewed unknown Array rs17419602 158 10756 0.0146895 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.129 - - 6 Y 0 N - - BC040901 Thr9Arg T9R not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TBC1D9B Ala1104Val A1104V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735498 173 10754 0.016087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TBC1D9B Arg841Cys R841C not reviewed Insufficiently evaluated not reviewed unknown Array rs6896808 209 10752 0.0194382 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MGAT1 Gly45Asp G45D not reviewed Insufficiently evaluated not reviewed unknown Array rs61743256 60 10554 0.00568505 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGAT1 Asp44Asn D44N not reviewed Insufficiently evaluated not reviewed unknown Array rs34344788 66 10566 0.00624645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINB1 Asn90Ser N90S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - BPHL Ala128Ser A128S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC22A23 Pro460Leu P460L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.374 - - 7 Y 1 N - - RREB1 Glu1506Asp E1506D not reviewed Insufficiently evaluated not reviewed unknown Array 2 9922 0.000201572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0319 Val54Leu V54L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ACOT13 Met4Val M4V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LRRC16A Arg725Ser R725S not reviewed Insufficiently evaluated not reviewed unknown Array rs12527029 201 9716 0.0206875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIST1H2BE Ile62Val I62V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HIST1H2AE Lys14Asn K14N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIST1H1D LysAla185Thr KA185T not reviewed Insufficiently evaluated not reviewed unknown Array rs36082484 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTN3A3 Trp380Cys W380C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - ZNF187 Arg328Lys R328K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF311 Pro651Leu P651L not reviewed Insufficiently evaluated not reviewed unknown Array 24 7524 0.00318979 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 7 Y 0 N - - ZNF311 Arg486Cys R486C not reviewed Insufficiently evaluated not reviewed unknown Array rs9295783 169 7524 0.0224615 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.207 - - 8 Y 1 N - - ZFP57 Asn178Ser N178S not reviewed Insufficiently evaluated not reviewed unknown Array rs9461544 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-F Ala267Ser A267S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK310256 AlaGlyAlaValAspGlyAla111Del AGAVDGA111Del not reviewed Insufficiently evaluated not reviewed unknown Array rs1611210 25 72 0.347222 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC051362 ArgAlaProTrpMetGluGln147Del RAPWMEQ147Del not reviewed Insufficiently evaluated not reviewed unknown Array rs1611210 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-A Val321Met V321M not reviewed Insufficiently evaluated not reviewed unknown Array rs1059896 10 7524 0.00132908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-A Ile322Phe I322F not reviewed Insufficiently evaluated not reviewed unknown Array rs3180278 105 7522 0.0139591 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MICB Glu215Lys E215K not reviewed Insufficiently evaluated not reviewed unknown Array rs45624537 16 7092 0.00225606 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRRC2A Ala1283Thr A1283T not reviewed Insufficiently evaluated not reviewed unknown Array rs35102093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRRC2A Ser1407Asn S1407N not reviewed Insufficiently evaluated not reviewed unknown Array rs35464047 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPANK1 Gly266Arg G266R not reviewed Insufficiently evaluated not reviewed unknown Array rs28732158 261 7516 0.0347259 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - C6ORF27 Arg139His R139H not reviewed Insufficiently evaluated not reviewed unknown Array rs17207531 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC44A4 Leu313Val L313V not reviewed Insufficiently evaluated not reviewed unknown Array 4 7514 0.000532339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK19 Arg315Gln R315Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 7514 0.000133084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4B Ser1176Asn S1176N not reviewed Insufficiently evaluated not reviewed unknown Array rs2746414 11 94 0.117021 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TNXB Thr1916Ala T1916A not reviewed Insufficiently evaluated not reviewed unknown Array rs17207916 35 6878 0.00508869 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - HLA-DPA1 Ala42Met A42M not reviewed Insufficiently evaluated not reviewed unknown Array rs1126534 22 128 0.171875 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RGL2 Ser589Thr S589T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBTB22 Arg212Lys R212K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLC26A8 Asp809Asn D809N not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - USP49 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCC10 Asp1109Asn D1109N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10592 0.00113293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - -1 - 1 N - - DLK2 Ser240Asn S240N not reviewed Insufficiently evaluated not reviewed unknown Array rs35789285 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - NFKBIE Cys109Tyr C109Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2233431 46 6012 0.00765136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCTE1 His384Leu H384L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745079 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - PLA2G7 Thr187Ser T187S not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.805 - - -2 - 1 N - - GPR110 Thr13Ile T13I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR115 Cys11Trp C11W not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 7 Y 2 N - - GPR115 Thr155Met T155M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - GPR115 Gln315Arg Q315R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - GPR115 Met385Thr M385T not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 2 - 0 N - - GPR115 Ser393Pro S393P not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR115 Arg429Gln R429Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - GPR115 Ile564Val I564V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - GPR115 Phe567Leu F567L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR115 Met655Thr M655T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - GPR115 Ser688Cys S688C not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.578 - - 3 - 1 N - - DST Gln1537Pro Q1537P not reviewed Insufficiently evaluated not reviewed unknown Array rs61263396 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - EYS Cys554Ser C554S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - COL12A1 Ser1626Ala S1626A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10544 0.00407815 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - IMPG1 Ile634Thr I634T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - TTK Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - DOPEY1 Asn1840Ser N1840S not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - C6ORF162 Tyr63His Y63H not reviewed Insufficiently evaluated not reviewed unknown Array rs35171967 191 10758 0.0177542 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MMS22L Pro1015Leu P1015L not reviewed Insufficiently evaluated not reviewed unknown Array rs10484830 1186 10758 0.110244 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - ASCC3 Val1050Ile V1050I not reviewed Insufficiently evaluated not reviewed unknown Array rs9497983 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AIM1 Phe1281Ser F1281S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741860 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SMPD2 Gly349Del G349Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPRC6A Leu600Phe L600F not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRDN Val92Ile V92I not reviewed Insufficiently evaluated not reviewed unknown Array rs34808221 66 9552 0.00690955 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0408 Pro509Thr P509T not reviewed Insufficiently evaluated not reviewed unknown Array 97 10756 0.00901822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - SAMD3 Glu443Lys E443K not reviewed Insufficiently evaluated not reviewed unknown Array rs61737599 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENPP3 Val620Met V620M not reviewed Insufficiently evaluated not reviewed unknown Array rs9321309 244 10758 0.0226808 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENPP3 Phe721Leu F721L not reviewed Insufficiently evaluated not reviewed unknown Array 167 10754 0.0155291 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAAR9 Ser334Leu S334L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741985 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VNN1 Val136Leu V136L not reviewed Insufficiently evaluated not reviewed unknown Array rs45610032 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - VNN2 Val241Ile V241I not reviewed Insufficiently evaluated not reviewed unknown Array rs33920182 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC2A12 Arg103Gly R103G not reviewed Insufficiently evaluated not reviewed unknown Array rs61741411 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - MAP7 Glu571Del E571Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NHSL1 Ala1370Pro A1370P not reviewed Insufficiently evaluated not reviewed unknown Array 4 118 0.0338983 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NMBR Val214Ala V214A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRM1 Pro1069Leu P1069L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10698 0.00317816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZC3H12D Pro405Ser P405S not reviewed Insufficiently evaluated not reviewed unknown Array 9 40 0.225 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ZC3H12D Glu51Lys E51K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - ULBP2 Leu121Pro L121P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - PLEKHG1 Arg856His R856H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - MTHFD1L Ala607Thr A607T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - RBM16 Thr629Ala T629A not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - C6ORF35 Ser65Gly S65G not reviewed Insufficiently evaluated not reviewed unknown Array 333 9730 0.034224 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TULP4 Gln1182His Q1182H not reviewed Insufficiently evaluated not reviewed unknown Array rs34017613 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FNDC1 Met1528Lys M1528K not reviewed Insufficiently evaluated not reviewed unknown Array 20 9128 0.00219106 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - TCP10 Thr112Met T112M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF124 Ile232Phe I232F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMD1 Tyr310His Y310H not reviewed Insufficiently evaluated not reviewed unknown Array rs35227364 87 10748 0.00809453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.372 - - -1 - 1 N - - DACT2 Ala73Ser A73S not reviewed Insufficiently evaluated not reviewed unknown Array 1 32 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.55 - - -1 - 1 N - - SUN1 Gln43Pro Q43P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MICALL2 Pro682Leu P682L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - AK125766 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FTSJ2 Arg14Cys R14C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - EIF3B Pro80Gln P80Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 2660 0.00451128 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001099942 Met99Ile M99I not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTYH3 Thr339Ala T339A not reviewed Insufficiently evaluated not reviewed unknown Array 255 10620 0.0240113 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - RADIL Pro946Leu P946L not reviewed Insufficiently evaluated not reviewed unknown Array 200 9566 0.0209074 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RADIL Ser490Leu S490L not reviewed Insufficiently evaluated not reviewed unknown Array 326 10036 0.0324831 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAPOLB Pro601Leu P601L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10614 0.00103637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_015343 Pro16Arg P16R not reviewed Insufficiently evaluated not reviewed unknown Array 136 9554 0.0142349 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNRC18 Arg1514Cys R1514C not reviewed Insufficiently evaluated not reviewed unknown Array 13 7606 0.00170918 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - USP42 Arg778Pro R778P not reviewed Insufficiently evaluated not reviewed unknown Array rs61729726 35 62 0.564516 17 0 26 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - USP42 Ser855Asn S855N not reviewed Insufficiently evaluated not reviewed unknown Array rs61753119 8 90 0.0888889 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - USP42 Ala1223Val A1223V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL28A1 Gln882Leu Q882L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745696 223 10116 0.0220443 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 1 N - - COL28A1 Arg741Gln R741Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17167102 130 9584 0.0135643 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - AK027618 Val734Ile V734I not reviewed Insufficiently evaluated not reviewed unknown Array rs73292361 4 126 0.031746 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK027618 Lys574Arg K574R not reviewed Insufficiently evaluated not reviewed unknown Array rs73294382 4 126 0.031746 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DGKB Phe91Cys F91C not reviewed Insufficiently evaluated not reviewed unknown Array 32 9584 0.0033389 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - MEOX2 His80Del H80Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ISPD Thr316Lys T316K not reviewed Insufficiently evaluated not reviewed unknown Array 61 9814 0.00621561 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ISPD Arg116Cys R116C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744487 59 9816 0.00601059 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABCB5 His908Tyr H908Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCB5 Asp1187Gly D1187G not reviewed Insufficiently evaluated not reviewed unknown Array rs58795451 413 10758 0.03839 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH11 Met512Lys M512K not reviewed Insufficiently evaluated not reviewed unknown Array rs72655984 55 9548 0.00576037 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - DNAH11 Ala1762Val A1762V not reviewed Insufficiently evaluated not reviewed unknown Array 46 9622 0.00478071 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - AX748054 Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 8 0 10 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DQ579940 Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array rs73687728 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM188B Arg246Trp R246W not reviewed Insufficiently evaluated not reviewed unknown Array rs61739692 34 9896 0.00343573 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - NPSR1 Thr366Ile T366I not reviewed Insufficiently evaluated not reviewed unknown Array rs13230135 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001128060 His229Arg H229R not reviewed Insufficiently evaluated not reviewed unknown Array rs73098593 7 56 0.125 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AMPH Glu614Asp E614D not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - URGCP Ala262Thr A262T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10314 0.00746558 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO1G Pro7Ser P7S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - NACAD Glu5Val E5V not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IGFBP3 Gly234Ser G234S not reviewed Insufficiently evaluated not reviewed unknown Array rs35712717 119 10758 0.0110615 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.489 - - 2 - 1 N - - ABCA13 Ser1074Leu S1074L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Ile2668Met I2668M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Ala3087Val A3087V not reviewed Insufficiently evaluated not reviewed unknown Array rs3931814 11 128 0.0859375 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABCA13 Asn4222Asp N4222D not reviewed Insufficiently evaluated not reviewed unknown Array rs4917152 16 112 0.142857 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - POM121L12 Gly205Cys G205C not reviewed Insufficiently evaluated not reviewed unknown Array 200 9976 0.0200481 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - ZNF679 Gly166Cys G166C not reviewed Insufficiently evaluated not reviewed unknown Array rs41403344 26 3234 0.00803958 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.053 - - 7 Y 0 N - - NM_181722 Arg149Trp R149W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_181722 Thr18Arg T18R not reviewed Insufficiently evaluated not reviewed unknown Array rs11764 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABHD11 Phe177Leu F177L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - LIMK1 His259Gln H259Q not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - -1 - 1 N - - PCLO Gln692Leu Q692L not reviewed Insufficiently evaluated not reviewed unknown Array rs28726270 241 10312 0.0233708 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DMTF1 Asp82Glu D82E not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ERVWE1 Arg278Cys R278C not reviewed Insufficiently evaluated not reviewed unknown Array 12 66 0.181818 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.746 - - 8 Y 0 N - - PON3 Ala179Asp A179D not reviewed Insufficiently evaluated not reviewed unknown Array rs17883013 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.956 - - 5 Y 2 N - - TECPR1 Val458Met V458M not reviewed Insufficiently evaluated not reviewed unknown Array 136 10070 0.0135055 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNPY4 Gln66Lys Q66K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.789 - - -2 - 1 N - - EPHB4 Ala955Val A955V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 2 - 2 N - - MUC3A ThrPro375IleSer TP375IS not reviewed Insufficiently evaluated not reviewed unknown Array 4 52 0.0769231 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC17 Pro1397Leu P1397L not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SH2B2 Gly113Cys G113C not reviewed Insufficiently evaluated not reviewed unknown Array 2 56 0.0357143 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RELN Phe1944Cys F1944C not reviewed Insufficiently evaluated not reviewed unknown Array 292 10758 0.0271426 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - PUS7 Tyr230His Y230H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - -1 - 1 N - - ATXN7L1 Ser800Asn S800N not reviewed Insufficiently evaluated not reviewed unknown Array rs61749986 34 3234 0.0105133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDHR3 Ala359Asp A359D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 5 Y 1 N - - SLC26A3 Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -4 - 1 N - - PPP1R3A Gly612Glu G612E not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP1R3A Ser395Ala S395A not reviewed Insufficiently evaluated not reviewed unknown Array rs62001864 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TFEC Gly100Ser G100S not reviewed Insufficiently evaluated not reviewed unknown Array rs35170691 168 10754 0.0156221 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.56 - - 2 - 1 N - - FAM71F1 Trp132Arg W132R not reviewed Insufficiently evaluated not reviewed unknown Array rs35252026 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LRGUK Gly297Val G297V not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 8 Y 2 N - - DGKI Asp509Glu D509E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - DGKI Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array rs34367207 158 10758 0.0146867 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.401 - - -4 - 1 N - - CREB3L2 Asp107Gly D107G not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - M97709 Arg13Gly R13G not reviewed Insufficiently evaluated not reviewed unknown Array rs361341 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001126313 Ala114Pro A114P not reviewed Insufficiently evaluated not reviewed unknown Array rs16883946 6 126 0.047619 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDIA4 Val527Ile V527I not reviewed Insufficiently evaluated not reviewed unknown Array rs61739277 91 10758 0.00845882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.065 - - -4 - 0 N - - ZNF786 Ala400Val A400V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AF035281 Arg166His R166H not reviewed Insufficiently evaluated not reviewed unknown Array 10 124 0.0806452 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GIMAP2 Asn152Ser N152S not reviewed Insufficiently evaluated not reviewed unknown Array rs17173567 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUB1 Arg472His R472H not reviewed Insufficiently evaluated not reviewed unknown Array 13 9940 0.00130785 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MLL3 Ile707Thr I707T not reviewed Insufficiently evaluated not reviewed unknown Array 16 52 0.307692 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MLL3 ProVal420ArgIle PV420RI not reviewed Insufficiently evaluated not reviewed unknown Array rs2360887 9 48 0.1875 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ERICH1 Ala253Thr A253T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - AB209502 Lys403Asn K403N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DEFA4 Ala8Leu A8L not reviewed Insufficiently evaluated not reviewed unknown Array rs28488529 11 128 0.0859375 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SPAG11B Pro76Leu P76L not reviewed Insufficiently evaluated not reviewed unknown Array rs2256100 10 100 0.1 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001080826 Arg1313His R1313H not reviewed Insufficiently evaluated not reviewed unknown Array rs56115338 110 10166 0.0108204 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R3B Gly48Glu G48E not reviewed Insufficiently evaluated not reviewed unknown Array rs3748140 242 10758 0.0224949 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 0 N - - BLK Phe112Ser F112S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10756 0.006508 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - NEIL2 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array rs8191612 183 10758 0.0170106 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.482 - - 7 Y 1 N - - REEP4 Arg33Gly R33G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ADAMDEC1 Ile44Arg I44R not reviewed Insufficiently evaluated not reviewed unknown Array rs35372591 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.903 - - 7 Y 2 N - - DOCK5 Arg524His R524H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.93 - - 1 - 2 N - - EPHX2 Lys89Arg K89R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C8ORF80 His330Gln H330Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10008 0.0034972 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR124 Gly1009Arg G1009R not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - AJ005372 Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array 6 100 0.06 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AJ005372 Asn254Lys N254K not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANK1 Asp1058Asn D1058N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - Y -1 - 3 N - - PXDNL Arg781Gly R781G not reviewed Insufficiently evaluated not reviewed unknown Array rs11992240 511 7336 0.0696565 11 0 11 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 1 N - - RP1 Leu128Ile L128I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10732 0.00242266 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.264 Y - -2 - 2 N - - C8ORF45 Met132Lys M132K not reviewed Insufficiently evaluated not reviewed unknown Array rs16933088 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SULF1 Asn720Del N720Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLCO5A1 Ala405Thr A405T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CA3 Ala232Thr A232T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743815 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.145 - - 1 - 0 N - - REXO1L1 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4960764 2 2 1 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC7A13 Ser397Pro S397P not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAD54B Val679Leu V679L not reviewed Insufficiently evaluated not reviewed unknown Array rs34588349 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PKHD1L1 Leu423Arg L423R not reviewed Insufficiently evaluated not reviewed unknown Array rs28442025 50 9564 0.00522794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSMD3 Asp1746Asn D1746N not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 2 N - - ENPP2 Arg491Lys R491K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743437 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF572 Pro60Thr P60T not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF572 Ser308Cys S308C not reviewed Insufficiently evaluated not reviewed unknown Array 225 10754 0.0209224 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_002304 Gly161Arg G161R not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OC90 Arg463Trp R463W not reviewed Insufficiently evaluated not reviewed unknown Array 3 9838 0.00030494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC6 Leu240Ser L240S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_207414 Arg753His R753H not reviewed Insufficiently evaluated not reviewed unknown Array rs73713681 1834 10230 0.179277 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP11B1 Asn335Asp N335D not reviewed Insufficiently evaluated not reviewed unknown Array rs61752766 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ZC3H3 Val927Phe V927F not reviewed Insufficiently evaluated not reviewed unknown Array 95 10678 0.0088968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.26 - - 3 - 1 N - - AY277601 Gly388Cys G388C not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPPK1 Val862Asp V862D not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Asp4004His D4004H not reviewed Insufficiently evaluated not reviewed unknown Array rs62642465 312 9448 0.0330229 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Ala987Thr A987T not reviewed Insufficiently evaluated not reviewed unknown Array rs58836306 354 10302 0.0343623 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF16 Ser306Leu S306L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732864 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 6 Y 2 N - - ZNF16 Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array 41 10756 0.00381183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - C8ORF77 Val136Glu V136E not reviewed Insufficiently evaluated not reviewed unknown Array rs77308683 20 128 0.15625 19 0 22 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DMRT2 Pro34Thr P34T not reviewed Insufficiently evaluated not reviewed unknown Array 20 9182 0.00217817 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C9ORF46 Met22Thr M22T not reviewed Insufficiently evaluated not reviewed unknown Array 79 10744 0.00735294 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRD Val1073Ile V1073I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MPDZ Gly868Ser G868S not reviewed Insufficiently evaluated not reviewed unknown Array rs34776397 68 9722 0.00699444 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTSL1 Val131Phe V131F not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACER2 Asn267Thr N267T not reviewed Insufficiently evaluated not reviewed unknown Array rs61978563 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF24 Arg1261Thr R1261T not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - KIAA1161 Met354Arg M354R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10714 0.00410678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK128180 Asn69Lys N69K not reviewed Insufficiently evaluated not reviewed unknown Array rs521552 8 82 0.097561 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - KIAA1045 His228Tyr H228Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61741776 18 10380 0.0017341 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - C9ORF100 Cys5Phe C5F not reviewed Insufficiently evaluated not reviewed unknown Array rs45567235 983 10436 0.0941932 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SPAG8 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array 11 22 0.5 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C9ORF128 Glu170Lys E170K not reviewed Insufficiently evaluated not reviewed unknown Array 104 10068 0.0103298 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RG9MTD3 Val242Ala V242A not reviewed Insufficiently evaluated not reviewed unknown Array rs12337034 253 9418 0.0268635 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.503 - - 2 - 1 N - - SHB Ser367Leu S367L not reviewed Insufficiently evaluated not reviewed unknown Array 27 9858 0.00273889 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.114 - - 6 Y 0 N - - ANKRD18A Val81Met V81M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - CNTNAP3 Thr1123Ala T1123A not reviewed Insufficiently evaluated not reviewed unknown Array rs1412360 1241 10550 0.11763 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM75A2 Ala1063Thr A1063T not reviewed Insufficiently evaluated not reviewed unknown Array rs62550833 278 2070 0.1343 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CNTNAP3B His193Asp H193D not reviewed Insufficiently evaluated not reviewed unknown Array rs1692898 18 20 0.9 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM75A5 Gly652Ser G652S not reviewed Insufficiently evaluated not reviewed unknown Array rs2778770 22 26 0.846154 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BC011779 Asp32Gly D32G not reviewed Insufficiently evaluated not reviewed unknown Array rs10907850 3 32 0.09375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TJP2 Ser711Pro S711P not reviewed Insufficiently evaluated not reviewed unknown Array rs35797487 320 10758 0.0297453 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - FAM75D1 Phe492Leu F492L not reviewed Insufficiently evaluated not reviewed unknown Array 215 10036 0.0214229 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - RASEF Ser74Ala S74A not reviewed Insufficiently evaluated not reviewed unknown Array 92 9698 0.00948649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIF27 Ser321Phe S321F not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - C9ORF170 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 374 10758 0.0347648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C9ORF79 Gln1192Lys Q1192K not reviewed Insufficiently evaluated not reviewed unknown Array 45 10704 0.00420403 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001100111 Ser3Phe S3F not reviewed Insufficiently evaluated not reviewed unknown Array 6 9908 0.000605571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NOL8 Val1066Met V1066M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743443 110 9664 0.0113825 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.834 - - 0 - 1 N - - CENPP Ala211Asp A211D not reviewed Insufficiently evaluated not reviewed unknown Array rs61735742 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.26 - - 5 Y 1 N - - ANP32B Glu221Del E221Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NANS Pro174Ser P174S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TBC1D2 Arg883Gln R883Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61748711 182 10758 0.0169176 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - COL15A1 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - CTNNAL1 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PALM2-AKAP2 Glu612Gln E612Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL27A1 Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array rs34578955 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - COL27A1 Ile1765Leu I1765L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - -2 - 2 N - - TLR4 Gln510His Q510H not reviewed Insufficiently evaluated not reviewed unknown Array rs5030719 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CDK5RAP2 Gln1555His Q1555H not reviewed Insufficiently evaluated not reviewed unknown Array rs35909061 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - CEP110 Gln734Arg Q734R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - DAB2IP Ser31Phe S31F not reviewed Insufficiently evaluated not reviewed unknown Array rs7027492 292 10378 0.0281364 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - DAB2IP Arg938His R938H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10736 0.00465723 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR1J2 Thr279Met T279M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - DENND1A Pro827Ser P827S not reviewed Insufficiently evaluated not reviewed unknown Array 54 9838 0.00548892 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - NR6A1 Ser476Asn S476N not reviewed Insufficiently evaluated not reviewed unknown Array rs61733760 46 10752 0.00427827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - WDR38 Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741956 139 9510 0.0146162 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - WDR38 Arg70His R70H not reviewed Insufficiently evaluated not reviewed unknown Array 199 10338 0.0192494 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.801 - - 1 - 1 N - - PTGES2 Lys269Asn K269N not reviewed Insufficiently evaluated not reviewed unknown Array rs61734646 211 10758 0.0196133 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGA2 Arg890Gly R890G not reviewed Insufficiently evaluated not reviewed unknown Array rs2240961 9 124 0.0725806 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GOLGA2 Met417Val M417V not reviewed Insufficiently evaluated not reviewed unknown Array rs16912752 12 128 0.09375 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HMCN2 Ala171Pro A171P not reviewed Insufficiently evaluated not reviewed unknown Array 3 36 0.0833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK8 Thr169Lys T169K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 3 - 1 N - - SURF6 Asn201His N201H not reviewed Insufficiently evaluated not reviewed unknown Array rs35316446 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SURF6 Arg193Gln R193Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34657219 62 10754 0.0057653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SURF1 Ala56Gly A56G not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 1 - 1 N - - CR592591 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR592591 Pro13Leu P13L not reviewed Insufficiently evaluated not reviewed unknown Array 7 126 0.0555556 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK090416 Arg30Cys R30C not reviewed Insufficiently evaluated not reviewed unknown Array rs60815492 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPS2 Met158Val M158V not reviewed Insufficiently evaluated not reviewed unknown Array rs35293407 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.124 - - 0 - 0 N - - DNLZ Ile97Val I97V not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - NOTCH1 Val1671Ile V1671I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229968 44 7788 0.00564972 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - FAM69B Arg352Lys R352K not reviewed Insufficiently evaluated not reviewed unknown Array rs7041513 49 10722 0.00457004 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MAMDC4 Arg440Trp R440W not reviewed Insufficiently evaluated not reviewed unknown Array 18 9902 0.00181781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXW5 Thr124Asn T124N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CR593643 Lys264Arg K264R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC018860 Phe92Leu F92L not reviewed Insufficiently evaluated not reviewed unknown Array rs28358874 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC018860 His119Tyr H119Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41542322 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC018860 Leu125Phe L125F not reviewed Insufficiently evaluated not reviewed unknown Array rs28358876 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCXD1 Glu131Gln E131Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - BC093994 His107Leu H107L not reviewed Insufficiently evaluated not reviewed unknown Array 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MXRA5 Pro1555Ser P1555S not reviewed Insufficiently evaluated not reviewed unknown Array 6 8761 0.000684853 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.595 - - 3 - 1 N - - MXRA5 Ala1351Val A1351V not reviewed Insufficiently evaluated not reviewed unknown Array 372 8761 0.0424609 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MXRA5 Thr1094Ile T1094I not reviewed Insufficiently evaluated not reviewed unknown Array 534 8761 0.0609519 6 0 10 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 1 N - - FAM9A Asp80Asn D80N not reviewed Insufficiently evaluated not reviewed unknown Array 267 8761 0.030476 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.852 - - -1 - 2 N - - SHROOM2 Leu732Gln L732Q not reviewed Insufficiently evaluated not reviewed unknown Array 108 8727 0.0123754 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.514 - - 5 Y 1 N - - NHS Thr876Met T876M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - BEND2 Gln198His Q198H not reviewed Insufficiently evaluated not reviewed unknown Array 79 8761 0.00901723 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - MAP7D2 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array 172 8634 0.0199212 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAGEB2 Gly318Arg G318R not reviewed Insufficiently evaluated not reviewed unknown Array rs5972090 186 8754 0.0212474 4 0 7 0 0 - - - - - - - - - - - - - - - - 0.289 - - 6 Y 1 N - - CXORF30 Ile332Val I332V not reviewed Insufficiently evaluated not reviewed unknown Array rs16998547 34 2482 0.0136986 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPP1R2P9 Glu115Lys E115K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729270 6 92 0.0652174 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 1 N - - ZNF674 Arg545Ile R545I not reviewed Insufficiently evaluated not reviewed unknown Array 15 8700 0.00172414 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 2 N - - GLOD5 Leu70Pro L70P not reviewed Insufficiently evaluated not reviewed unknown Array rs61735979 3 92 0.0326087 3 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KCND1 Ser531Ala S531A not reviewed Insufficiently evaluated not reviewed unknown Array rs35743038 159 8759 0.0181528 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - -1 - 1 N - - MAGED2 Glu187Asp E187D not reviewed Insufficiently evaluated not reviewed unknown Array rs12014977 235 8761 0.0268234 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.884 - - -2 - 2 N - - OTUD6A Lys93Arg K93R not reviewed Insufficiently evaluated not reviewed unknown Array 272 8755 0.031068 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - ZMYM3 Lys778Glu K778E not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - MAGEC2 Pro204Ser P204S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POF1B Gln38Pro Q38P not reviewed Insufficiently evaluated not reviewed unknown Array 92 8761 0.0105011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 1 N - - ARMCX2 Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TCEAL4 Leu36Val L36V not reviewed Insufficiently evaluated not reviewed unknown Array 56 8702 0.0064353 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - DCAF12L1 Asp19Gly D19G not reviewed Insufficiently evaluated not reviewed unknown Array rs11095722 477 8275 0.0576435 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR622587 Arg62Lys R62K not reviewed Insufficiently evaluated not reviewed unknown Array 2 90 0.0222222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MAGEC1 Arg1057Trp R1057W not reviewed Insufficiently evaluated not reviewed unknown Array 48 8761 0.00547883 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.584 - - 7 Y 1 N - - PLXNB3 Cys28Tyr C28Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35537879 2 90 0.0222222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HCFC1 Gly1190Ser G1190S not reviewed Insufficiently evaluated not reviewed unknown Array 108 6774 0.0159433 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK307233 Ser72Ala S72A not reviewed Insufficiently evaluated not reviewed unknown Array rs915941 15 88 0.170455 12 0 20 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLXNA3 Arg107His R107H not reviewed Insufficiently evaluated not reviewed unknown Array 11 8739 0.00125872 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 1 - 2 N - - CTAG2 Gly181Arg G181R not reviewed Insufficiently evaluated not reviewed unknown Array 223 8760 0.0254566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - H2AFB3 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array rs2292089 13 48 0.270833 9 0 16 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - VAMP7 Met127Thr M127T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10750 0.0027907 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL9R Glu239Gln E239Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6522 79 10750 0.00734884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - IL9R Leu263Pro L263P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - H6PD Pro722Ser P722S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 Y Y 3 - 3 N - - PLOD1 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array rs34878020 317 10758 0.0294664 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.252 Y Y 1 - 3 N - - GJB4 Phe51Shift F51Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ABCA4 Asp279Shift D279Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - C1ORF194 Tyr49Stop Y49X not reviewed Insufficiently evaluated not reviewed unknown Array rs62623709 86 7820 0.0109974 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG Asn2309Thr N2309T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 1 - 2 N - - FLG His2305Arg H2305R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG GluSer2297AspArg ES2297DR not reviewed Insufficiently evaluated not reviewed unknown Array 2 70 0.0285714 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTC24 Gln102Shift Q102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 120 0.05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NTRK1 Gly226Ser G226S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 2 - 2 N - - PRRC2C Ser2283Shift S2283Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CFH Tyr368Stop Y368X not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - F13B Leu529Pro L529P not reviewed Insufficiently evaluated not reviewed unknown Array rs17549671 81 10756 0.00753068 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.019 Y - 7 Y 1 N - - ASPM His3258Arg H3258R not reviewed Insufficiently evaluated not reviewed unknown Array rs7528827 78 10758 0.00725042 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ASPM Thr2490Ala T2490A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ASPM Arg1695Cys R1695C not reviewed Insufficiently evaluated not reviewed unknown Array 316 10752 0.0293899 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CACNA1S Gln1142Pro Q1142P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CHIT1 Gly354Arg G354R not reviewed Insufficiently evaluated not reviewed unknown Array rs9943208 288 10758 0.0267708 4 0 4 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - CR620847 Arg341Shift R341Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2G6 Val274Shift V274Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BEND7 Stop469Shift X469Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDH15 ProAlaPro1760Del PAP1760Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CDH23 Gln58Arg Q58R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732490 125 10060 0.0124254 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.838 Y Y 0 - 3 N - - COL17A1 Gly436Glu G436E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731082 37 10748 0.0034425 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - OR51I2 His308Shift H308Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALX4 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - MYBPC3 Arg382Trp R382W not reviewed Insufficiently evaluated not reviewed unknown Array rs11570076 99 10088 0.00981364 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - AB231740 Cys64Shift C64Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BBS1 Glu252Asp E252D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 2 N - - MYO7A Asp746Asn D746N not reviewed Insufficiently evaluated not reviewed unknown Array rs36090425 58 10438 0.00555662 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.293 Y Y -1 - 3 N - - AMOTL1 Gly871Shift G871Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 116 0.0258621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1C Ile1315Val I1315V not reviewed Insufficiently evaluated not reviewed unknown Array 18 7820 0.00230179 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -4 - 2 N - - VWF Thr1034Del T1034Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ATN1 Ala811Val A811V not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TAS2R20 Trp35Stop W35X not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLCZ1 Asp414Shift D414Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL2A1 Gly1443Ser G1443S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL2A1 Arg932Gln R932Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL2A1 Pro478Leu P478L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10440 0.001341 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.912 Y Y 7 Y 4 N - - METTL7B Arg174Stop R174X not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZFC3H1 Glu390Shift E390Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BBS10 Lys579Arg K579R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.521 Y Y -3 - 3 N - - TSPAN19 Met29Shift M29Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59822389 5 126 0.0396825 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GOLGA2B Cys45Shift C45Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAH Lys274Glu K274E not reviewed Insufficiently evaluated not reviewed unknown Array rs61735874 59 10758 0.00548429 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.023 Y Y 0 - 2 N - - CMKLR1 Leu298Shift L298Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRPV4 Pro638Leu P638L not reviewed Insufficiently evaluated not reviewed unknown Array rs35058636 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.216 Y - 7 Y 2 N - - ATP6V0A2 Met357Leu M357L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.302 Y Y -3 - 3 N - - SACS Pro2462Ser P2462S not reviewed Insufficiently evaluated not reviewed unknown Array 58 10756 0.00539234 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - BRCA2 Leu929Ser L929S not reviewed Insufficiently evaluated not reviewed unknown Array rs2227943 38 10752 0.00353423 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BRCA2 Asn987Ile N987I not reviewed Insufficiently evaluated not reviewed unknown Array rs2227944 37 10744 0.00344378 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PDS5B Arg1447Stop R1447X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPB2 Tyr245Shift Y245Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HNRNPA1L2 Thr26Shift T26Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ866763 His67Shift H67Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UPF3A Gly140Stop G140X not reviewed Insufficiently evaluated not reviewed unknown Array 294 10752 0.0273438 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR4L1 Thr134Shift T134Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR11G2 Phe139Shift F139Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61106173 6 128 0.046875 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR11G2 Cys227Shift C227Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 Arg541Cys R541C not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TINF2 Leu421Phe L421F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 0 - 2 N - - AF469208 Tyr65Shift Y65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR616805 Ala220Shift A220Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59733920 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC127913 Leu45Shift L45Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDAN1 Ala999Thr A999T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 1 - 2 N - - BC016970 Glu94Stop E94X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSC2 Arg1329His R1329H not reviewed Insufficiently evaluated not reviewed unknown Array rs45517323 187 10714 0.0174538 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y 1 - 3 N - - PKD1 Val3409Leu V3409L not reviewed Insufficiently evaluated not reviewed unknown Array rs61747420 462 10654 0.043364 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.24 Y Y 0 - 3 N - - PKD1 Ser1684Leu S1684L not reviewed Insufficiently evaluated not reviewed unknown Array 121 10644 0.0113679 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y Y 6 Y 2 N - - ABCC12 Lys66Shift K66Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MT1IP Tyr46Stop Y46X not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PDF Pro149Shift P149Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COG8 Pro531Ser P531S not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COG8 Val193Ala V193A not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ZNF594 Glu684Stop E684X not reviewed Insufficiently evaluated not reviewed unknown Array 54 10710 0.00504202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACADVL Glu534Lys E534K not reviewed Insufficiently evaluated not reviewed unknown Array rs2230180 108 10756 0.0100409 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MPDU1 Gly225Ser G225S not reviewed Insufficiently evaluated not reviewed unknown Array rs16956808 406 10758 0.0377394 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SARM1 Pro48Shift P48Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11437592 4 4 1 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SARM1 Lys51Shift K51Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11437593 4 4 1 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SARM1 Val52Shift V52Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67504258 4 4 1 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AOC3 Arg168Stop R168X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10732 9.3179e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NR_002773 Arg167Stop R167X not reviewed Insufficiently evaluated not reviewed unknown Array rs7214297 6 118 0.0508475 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - BC122868 Gln120Shift Q120Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs369227 3 124 0.0241935 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BRCA1 Lys820Glu K820E not reviewed Insufficiently evaluated not reviewed unknown Array rs56082113 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - BRCA1 His476Arg H476R not reviewed Insufficiently evaluated not reviewed unknown Array rs55720177 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.822 Y Y 1 - 3 N - - ACE Asp592Gly D592G not reviewed Insufficiently evaluated not reviewed unknown Array rs12709426 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - AXIN2 ThrThrProArg672Del TTPR672Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 126 0.0555556 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - USH1G Glu142Lys E142K not reviewed Insufficiently evaluated not reviewed unknown Array 482 10758 0.0448039 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.123 Y Y 0 - 2 N - - USH1G Lys130Glu K130E not reviewed Insufficiently evaluated not reviewed unknown Array 485 10758 0.0450827 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 4 N - - LGALS3BP Ser411Shift S411Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM105 Arg82Stop R82X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NPC1 Asp182Asn D182N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LAMA3 Ser611Arg S611R not reviewed Insufficiently evaluated not reviewed unknown Array 20 9562 0.00209161 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - STK11 Phe298Leu F298L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9754 0.000717654 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.537 Y Y 0 - 3 N - - GAMT Val235Ile V235I not reviewed Insufficiently evaluated not reviewed unknown Array 25 6164 0.00405581 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TBXA2R Arg342Stop R342X not reviewed Insufficiently evaluated not reviewed unknown Array rs8113293 5 126 0.0396825 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - STXBP2 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.841 Y Y 1 - 3 N - - NOTCH3 Pro2074Leu P2074L not reviewed Insufficiently evaluated not reviewed unknown Array 110 6748 0.0163011 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 7 Y 2 N - - JAK3 Pro132Thr P132T not reviewed Insufficiently evaluated not reviewed unknown Array rs3212723 313 10744 0.0291325 5 0 6 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 4 Y 1 N - - RYR1 Glu3689Del E3689Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ZNF155 Gly312Shift G312Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10409556 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BX640680 Gln88Stop Q88X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MSH6 Arg1304Lys R1304K not reviewed Insufficiently evaluated not reviewed unknown Array rs34625968 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.235 Y Y -3 - 3 N - - RAB3GAP1 Pro436Leu P436L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10750 0.00176744 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - RAB3GAP1 Tyr442Cys Y442C not reviewed Insufficiently evaluated not reviewed unknown Array 132 10752 0.0122768 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 6 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs2232321 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - COL6A3 Arg659His R659H not reviewed Insufficiently evaluated not reviewed unknown Array rs36092870 293 10758 0.0272355 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ANO7 Ser914Shift S914Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60985508 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GNRH2 Ser116Shift S116Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs16996832 3 96 0.03125 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FER1L4 Leu323Shift L323Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL18A1 Gln49Leu Q49L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735029 125 10342 0.0120866 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - COL18A1 Gly111Arg G111R not reviewed Insufficiently evaluated not reviewed unknown Array 70 10570 0.00662252 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - COL6A1 Ile681Thr I681T not reviewed Insufficiently evaluated not reviewed unknown Array 148 10750 0.0137674 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - RANGAP1 Gly20Arg G20R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 Y Y 6 Y 2 N - - MEI1 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 114 0.0350877 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYRIP Met65Shift M65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 16 46 0.347826 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLNB Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array rs62622011 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y -4 - 2 N - - ATXN7 Asn325Ser N325S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736574 242 9482 0.025522 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - ZNF717 Ser911Shift S911Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67410759 6 14 0.428571 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HGD Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10750 0.000837209 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - KCNMB3 Trp106Stop W106X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK057553 Gly38Shift G38Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGFRL1 His485Shift H485Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DOK7 His272Gln H272Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.965 Y Y -1 - 4 N - - DOK7 Arg323Cys R323C not reviewed Insufficiently evaluated not reviewed unknown Array 78 9944 0.00784392 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y 8 Y 4 N - - WFS1 Gly76Val G76V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10388 0.0019253 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 8 Y 2 N - - WFS1 Met518Ile M518I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y -1 - 4 N - - AK095318 Trp68Stop W68X not reviewed Insufficiently evaluated not reviewed unknown Array rs61731313 40 3234 0.0123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HADH Asn294Ser N294S not reviewed Insufficiently evaluated not reviewed unknown Array rs36030668 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.044 Y Y 0 - 2 N - - MFSD8 Glu22Asp E22D not reviewed Insufficiently evaluated not reviewed unknown Array 95 10744 0.00884214 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -2 - 2 N - - GTF2H2B Val46Shift V46Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs4065252 22 76 0.289474 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VCAN Asn3011Lys N3011K not reviewed Insufficiently evaluated not reviewed unknown Array rs16900532 590 10758 0.0548429 4 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - GPR98 Ala2106Val A2106V not reviewed Insufficiently evaluated not reviewed unknown Array 31 9770 0.00317298 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.957 Y Y 2 - 4 N - - GPR98 Tyr2410Cys Y2410C not reviewed Insufficiently evaluated not reviewed unknown Array 210 9752 0.021534 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 6 Y 4 N - - GPR98 Ile2526Val I2526V not reviewed Insufficiently evaluated not reviewed unknown Array 202 9900 0.020404 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -4 - 2 N - - GPR98 Leu2605Val L2605V not reviewed Insufficiently evaluated not reviewed unknown Array 142 10082 0.0140845 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GPR98 Phe3347Leu F3347L not reviewed Insufficiently evaluated not reviewed unknown Array rs10067636 168 9256 0.0181504 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LNPEP Ile616Shift I616Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DDX41 Arg10Shift R10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SQSTM1 Arg321Cys R321C not reviewed Insufficiently evaluated not reviewed unknown Array 116 10712 0.010829 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - RREB1 Leu410Shift L410Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-H Gly164Arg G164R not reviewed Insufficiently evaluated not reviewed unknown Array 3 112 0.0267857 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CYP21A2 Arg76Lys R76K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10248 0.0004879 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - FAM135A Ile1321Shift I1321Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GTF3C6 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMA2 Gly2545Glu G2545E not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - AHI1 Gln1018Pro Q1018P not reviewed Insufficiently evaluated not reviewed unknown Array rs6940875 195 9690 0.0201238 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.815 Y Y 4 Y 3 N - - AK289375 Ser95Shift S95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PMS2 Asn775Ser N775S not reviewed Insufficiently evaluated not reviewed unknown Array rs1059060 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 N - - PMS2 Glu537Lys E537K not reviewed Insufficiently evaluated not reviewed unknown Array 50 10754 0.00464943 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 0 - 2 N - - NR_003952 Asn156Shift N156Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71275255 5 70 0.0714286 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP3A43 Tyr25Shift Y25Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61469810 19 128 0.148438 13 0 13 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001085391 Gln94Stop Q94X not reviewed Insufficiently evaluated not reviewed unknown Array rs7795596 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLCN1 Gln809GlnGluGln Q809QEQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - MNX1 ArgThr245ProAla RT245PA not reviewed Insufficiently evaluated not reviewed unknown Array 3 58 0.0517241 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 1 N - - LPL Asp36Asn D36N not reviewed Insufficiently evaluated not reviewed unknown Array rs1801177 303 10758 0.0281651 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.489 Y Y -1 - 3 N - - EPPK1 Thr403Shift T403Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLEC Glu1817Shift E1817Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RECQL4 Arg766Shift R766Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11362176 10 36 0.277778 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ANXA2 Met118Shift M118Shift not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC036230 Gln115Stop Q115X not reviewed Insufficiently evaluated not reviewed unknown Array rs10758509 9 62 0.145161 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - FANCC Val449Met V449M not reviewed Insufficiently evaluated not reviewed unknown Array rs1800367 304 10756 0.0282633 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OR13D1 Ser286Shift S286Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA1 Lys422Shift K422Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PNPLA7 Ser206Shift S206Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DMD Thr715Ser T715S not reviewed Insufficiently evaluated not reviewed unknown Array rs16998350 55 8757 0.00628069 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y -2 - 2 N - - TAF1 Ala318Gly A318G not reviewed Insufficiently evaluated not reviewed unknown Array rs35317750 142 8761 0.0162082 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TNFRSF18 Thr43Arg T43R not reviewed Insufficiently evaluated not reviewed unknown Array rs11466676 237 8534 0.0277713 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - ACAP3 Glu472Val E472V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MXRA8 Met398Ile M398I not reviewed Insufficiently evaluated not reviewed unknown Array 89 10744 0.00828369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - BC080546 Ala21Glu A21E not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATAD3C Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - C1ORF70 Asp81Tyr D81Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK11B His112Arg H112R not reviewed Insufficiently evaluated not reviewed unknown Array rs17845218 12 124 0.0967742 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLCH2 Ala1112Thr A1112T not reviewed Insufficiently evaluated not reviewed unknown Array 260 10060 0.0258449 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCH2 Glu1300Ala E1300A not reviewed Insufficiently evaluated not reviewed unknown Array 225 9922 0.0226769 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TP73 Ala325Thr A325T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737710 107 10110 0.0105836 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.154 - - 1 - 0 N - - THAP3 Glu160Ala E160A not reviewed Insufficiently evaluated not reviewed unknown Array 254 10758 0.0236103 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC113958 Ser92Pro S92P not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLSTN1 Arg415Trp R415W not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.65 - - 7 Y 1 N - - CASZ1 Arg244Cys R244C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CASZ1 Arg78Cys R78C not reviewed Insufficiently evaluated not reviewed unknown Array 144 10378 0.0138755 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.94 - - 8 Y 2 N - - C1ORF127 Gly522Arg G522R not reviewed Insufficiently evaluated not reviewed unknown Array 240 10754 0.0223173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF127 Thr336Ala T336A not reviewed Insufficiently evaluated not reviewed unknown Array 431 10758 0.0400632 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF127 Ile305Phe I305F not reviewed Insufficiently evaluated not reviewed unknown Array 422 10758 0.0392266 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF127 Pro298Ala P298A not reviewed Insufficiently evaluated not reviewed unknown Array 409 10758 0.0380182 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTCHD2 Gln825Glu Q825E not reviewed Insufficiently evaluated not reviewed unknown Array 233 9718 0.0239761 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.899 - - -2 - 2 N - - C1ORF167 Gly368Arg G368R not reviewed Insufficiently evaluated not reviewed unknown Array rs7523653 5 126 0.0396825 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MIIP Pro381Ser P381S not reviewed Insufficiently evaluated not reviewed unknown Array rs34874602 134 10758 0.0124558 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASP9 Arg192Cys R192C not reviewed Insufficiently evaluated not reviewed unknown Array rs2308939 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 8 Y 2 N - - CLCNKA Val104Ile V104I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - FAM131C Arg245Trp R245W not reviewed Insufficiently evaluated not reviewed unknown Array rs12752093 1556 6912 0.225116 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 1 N - - KIF17 Pro732Leu P732L not reviewed Insufficiently evaluated not reviewed unknown Array 168 10724 0.0156658 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSPG2 Ser3969Asn S3969N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYOM3 Arg193Trp R193W not reviewed Insufficiently evaluated not reviewed unknown Array 155 9914 0.0156345 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 1 N - - UBXN11 GlyProGlyPro506Del GPGP506Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AIM1L Gly14Ala G14A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 0 N - - NUDC Val200Met V200M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - AHDC1 Ser1036Del S1036Del not reviewed Insufficiently evaluated not reviewed unknown Array 6 122 0.0491803 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SESN2 His309Tyr H309Y not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 0 N - - PTPRU Thr60Asn T60N not reviewed Insufficiently evaluated not reviewed unknown Array rs35332573 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD2 Asn491Ser N491S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GJA4 Pro258Ser P258S not reviewed Insufficiently evaluated not reviewed unknown Array rs28739284 251 10756 0.0233358 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.78 - - 3 - 1 N - - DLGAP3 Gly765Asp G765D not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - ZMYM6 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array rs72896074 6 108 0.0555556 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZMYM6 Val138Leu V138L not reviewed Insufficiently evaluated not reviewed unknown Array rs3892091 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZMYM1 Arg1092His R1092H not reviewed Insufficiently evaluated not reviewed unknown Array 71 9632 0.00737126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CLSPN Asp468Tyr D468Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61759479 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TEKT2 Gly211Ser G211S not reviewed Insufficiently evaluated not reviewed unknown Array rs35654839 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - 2 - 1 N - - THRAP3 Lys202Arg K202R not reviewed Insufficiently evaluated not reviewed unknown Array rs61998240 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 1 N - - CSF3R Gln346Arg Q346R not reviewed Insufficiently evaluated not reviewed unknown Array rs3917974 289 10758 0.0268637 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.569 - - 0 - 1 N - - CSF3R Met231Thr M231T not reviewed Insufficiently evaluated not reviewed unknown Array rs3917973 259 10690 0.0242283 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BMP8A Glu90Lys E90K not reviewed Insufficiently evaluated not reviewed unknown Array 129 7490 0.017223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.784 - - 0 - 1 N - - ZNF643 Thr249Ile T249I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - NR_002314 Gln19His Q19H not reviewed Insufficiently evaluated not reviewed unknown Array 6 46 0.130435 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DMRTB1 Ala77Gly A77G not reviewed Insufficiently evaluated not reviewed unknown Array 4 9046 0.000442184 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 1 - 1 N - - TTC4 Arg379Trp R379W not reviewed Insufficiently evaluated not reviewed unknown Array rs61734869 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - ANGPTL3 Met259Thr M259T not reviewed Insufficiently evaluated not reviewed unknown Array 172 10756 0.0159911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR78 Leu372Pro L372P not reviewed Insufficiently evaluated not reviewed unknown Array rs34367895 77 10750 0.00716279 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR78 Ile196Thr I196T not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF173 Ile278Val I278V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RPF1 Met223Ile M223I not reviewed Insufficiently evaluated not reviewed unknown Array rs7528067 595 10752 0.0553385 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 0 N - - RPF1 Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array rs72948447 66 10756 0.00613611 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - COL24A1 Ala61Glu A61E not reviewed Insufficiently evaluated not reviewed unknown Array rs11161747 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1107 Val392Leu V392L not reviewed Insufficiently evaluated not reviewed unknown Array rs7552286 9 128 0.0703125 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC44A3 Val362Ile V362I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FNDC7 Asn134Ser N134S not reviewed Insufficiently evaluated not reviewed unknown Array rs3006870 10 128 0.078125 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FNDC7 Asn327Lys N327K not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKNAD1 Arg608His R608H not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - AKNAD1 Ser232Ala S232A not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKNAD1 Lys226Asn K226N not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SORT1 Ser746Asn S746N not reviewed Insufficiently evaluated not reviewed unknown Array rs72646588 56 10758 0.00520543 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM19A3 Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 53 10756 0.00492748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - FAM19A3 Pro151Arg P151R not reviewed Insufficiently evaluated not reviewed unknown Array 51 10754 0.00474242 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CD101 Arg992Trp R992W not reviewed Insufficiently evaluated not reviewed unknown Array rs34248572 265 10758 0.0246328 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - TRIM45 Ile189Asn I189N not reviewed Insufficiently evaluated not reviewed unknown Array rs36008981 128 10738 0.0119203 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - HSD3B2 Asp74Asn D74N not reviewed Insufficiently evaluated not reviewed unknown Array rs4986954 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.157 Y - -1 - 1 N - - PDE4DIP Glu1970Lys E1970K not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - PDE4DIP Val513Met V513M not reviewed Insufficiently evaluated not reviewed unknown Array 144 10750 0.0133953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCL9 Ala1366Pro A1366P not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SETDB1 Leu583Met L583M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TCHHL1 Glu277Lys E277K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - TCHH Pro205Ala P205A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Gly2604Glu G2604E not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Gly2602Ser G2602S not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HRNR Ala1354Ser A1354S not reviewed Insufficiently evaluated not reviewed unknown Array 25 1314 0.0190259 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR TyrGlyHisArg1336HisGlyGlnHis YGHR1336HGQH not reviewed Insufficiently evaluated not reviewed unknown Array 14 16 0.875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FLG2 His2051Tyr H2051Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - FLG2 Ala2050Thr A2050T not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FLG2 His2039Pro H2039P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - FLG2 Gly2038Val G2038V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - FLG2 Tyr2033Ser Y2033S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 5 Y 1 N - - FLG2 Ala2027Gly A2027G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FLG2 Thr2023Ala T2023A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 1 - 1 N - - FLG2 Arg2018Thr R2018T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FLG2 Ser2010Pro S2010P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - FLG2 Gly2008Ala G2008A not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - FLG2 Arg2006Glu R2006E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLG2 Ala2002Gly A2002G not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FLG2 Pro1984Gly P1984G not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLG2 HisTyr1982GlnHis HY1982QH not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KPRP Gln101Pro Q101P not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - POU5F1P4 Val234Ala V234A not reviewed Insufficiently evaluated not reviewed unknown Array 10 126 0.0793651 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ASH1L Cys440Gly C440G not reviewed Insufficiently evaluated not reviewed unknown Array 249 10758 0.0231456 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - MSTO1 Pro476Ser P476S not reviewed Insufficiently evaluated not reviewed unknown Array 124 9992 0.0124099 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - YY1AP1 Met619Ile M619I not reviewed Insufficiently evaluated not reviewed unknown Array 235 10752 0.0218564 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.715 - - -1 - 1 N - - SPTA1 Asp152Asn D152N not reviewed Insufficiently evaluated not reviewed unknown Array rs16840544 342 10102 0.0338547 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLAMF8 Pro5Thr P5T not reviewed Insufficiently evaluated not reviewed unknown Array rs2494514 275 10758 0.0255624 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CASQ1 His66Arg H66R not reviewed Insufficiently evaluated not reviewed unknown Array rs74123281 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - FCGR3B Asn82Asp N82D not reviewed Insufficiently evaluated not reviewed unknown Array rs428888 494 10144 0.0486987 6 0 12 0 0 - - - - - - - - - - - - - - - - 0.034 - - -1 - 0 N - - OLFML2B Arg367Trp R367W not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - OLFML2B Arg347Gln R347Q not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - RCSD1 Gln384Arg Q384R not reviewed Insufficiently evaluated not reviewed unknown Array rs34699420 40 10676 0.00374672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPT Leu3Pro L3P not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - METTL11B Ser279Gly S279G not reviewed Insufficiently evaluated not reviewed unknown Array rs61747972 9 3234 0.00278293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF129 Gln317His Q317H not reviewed Insufficiently evaluated not reviewed unknown Array 133 9862 0.0134861 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC9A11 Val392Ile V392I not reviewed Insufficiently evaluated not reviewed unknown Array 101 10756 0.00939011 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAPPA2 Ser492Leu S492L not reviewed Insufficiently evaluated not reviewed unknown Array 31 9958 0.00311307 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.684 - - 6 Y 1 N - - SEC16B Phe27Ile F27I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10062 0.00268336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - C1ORF49 Glu86Gly E86G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABL2 Val931Met V931M not reviewed Insufficiently evaluated not reviewed unknown Array rs28913889 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - CEP350 Glu224Lys E224K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - QSOX1 Asn485Ser N485S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM129A Glu814Gly E814G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.877 - - 6 Y 2 N - - PRG4 Ser815Thr S815T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -2 - 1 N - - F13B His350Arg H350R not reviewed Insufficiently evaluated not reviewed unknown Array rs5999 95 10756 0.00883228 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - 1 - 1 N - - ZBTB41 Glu876Val E876V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10756 0.00697285 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.924 - - 5 Y 2 N - - PTPRC Glu521Val E521V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - LAD1 LeuVal161Phe LV161F not reviewed Insufficiently evaluated not reviewed unknown Array rs35119736 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CR621810 Arg88Cys R88C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNPEP Arg317Cys R317C not reviewed Insufficiently evaluated not reviewed unknown Array 226 10758 0.0210076 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - CHIT1 Ala442Val A442V not reviewed Insufficiently evaluated not reviewed unknown Array rs1065761 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - FMOD Ser33Gly S33G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A9 Tyr70Asn Y70N not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF186 Val117Ile V117I not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTSE Trp103Cys W103C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTSE Val248Phe V248F not reviewed Insufficiently evaluated not reviewed unknown Array rs61742549 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4BPA Ile224Thr I224T not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - CR620847 Ala207Thr A207T not reviewed Insufficiently evaluated not reviewed unknown Array 10 118 0.0847458 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CENPF His1082Tyr H1082Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61732031 161 10756 0.0149684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CENPF Arg1879Cys R1879C not reviewed Insufficiently evaluated not reviewed unknown Array rs61732022 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF65 Leu79Val L79V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC8 Ala672Gly A672G not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.453 - - 1 - 1 N - - SIPA1L2 Val1437Met V1437M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9850 0.000101522 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 0 - 2 N - - KIAA1383 His915Leu H915L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735509 181 9510 0.0190326 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - B3GALNT2 Gly248Ala G248A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - HEATR1 Gln1040Leu Q1040L not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.669 - - 5 Y 1 N - - FMN2 Gly202Del G202Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71168893 10 74 0.135135 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR2T8 Arg305Trp R305W not reviewed Insufficiently evaluated not reviewed unknown Array rs6695357 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - 7 Y 0 N - - C10ORF108 Gly83Arg G83R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSPA14 Asp303Glu D303E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CUBN Ile2333Val I2333V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - C10ORF114 Arg73Pro R73P not reviewed Insufficiently evaluated not reviewed unknown Array rs11012724 35 10716 0.00326614 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARMC3 Glu345Gly E345G not reviewed Insufficiently evaluated not reviewed unknown Array rs16922864 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ARHGAP21 Gly1120Ser G1120S not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.819 - - 2 - 1 N - - NR_003525 Thr406Met T406M not reviewed Insufficiently evaluated not reviewed unknown Array rs74126949 43 3234 0.0132962 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MKX Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array rs34439626 278 10736 0.0258942 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARD3 Ala1277Thr A1277T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - TMEM72 Gly192Arg G192R not reviewed Insufficiently evaluated not reviewed unknown Array 89 7820 0.0113811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - RBP3 Ile926Thr I926T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GDF10 Met349Val M349V not reviewed Insufficiently evaluated not reviewed unknown Array rs35390845 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - WDFY4 Ala671Val A671V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDFY4 Glu2270Asp E2270D not reviewed Insufficiently evaluated not reviewed unknown Array rs61733234 28 3234 0.00865801 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANK3 Thr128Ala T128A not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TET1 Lys1722Arg K1722R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAMTS14 His303Arg H303R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - C10ORF11 Gly176Glu G176E not reviewed Insufficiently evaluated not reviewed unknown Array 345 10758 0.0320692 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MMRN2 Met385Thr M385T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - KIF20B Glu1087Gln E1087Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11185863 137 10744 0.0127513 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BTAF1 Thr912Met T912M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - IDE Lys212Asn K212N not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYOF Arg1426Trp R1426W not reviewed Insufficiently evaluated not reviewed unknown Array 109 9854 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - 7 Y 0 N - - AVPI1 Ser140Thr S140T not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.045 - - -2 - 0 N - - SFRP5 Asp118Tyr D118Y not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 7 Y 2 N - - ENTPD7 Leu360Phe L360F not reviewed Insufficiently evaluated not reviewed unknown Array rs61738505 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - PKD2L1 Gln658Leu Q658L not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - 5 Y 2 N - - DPCD Met94Leu M94L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -3 - 0 N - - C10ORF95 Cys77Gly C77G not reviewed Insufficiently evaluated not reviewed unknown Array 8 9392 0.000851788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CALHM2 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10464 0.00066896 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - CALHM3 Arg251Gln R251Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 3220 0.0161491 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SH3PXD2A Val984Ile V984I not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - OBFC1 Arg336His R336H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - 1 - 0 N - - C10ORF79 Arg1477Gln R1477Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10754 0.00195276 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF79 Asn355Asp N355D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SORCS3 Gly99Ser G99S not reviewed Insufficiently evaluated not reviewed unknown Array 277 5226 0.0530042 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.686 - - 2 - 0 N - - SORCS3 Asp510Asn D510N not reviewed Insufficiently evaluated not reviewed unknown Array rs62620040 106 10758 0.00985313 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SORCS1 Pro789Gln P789Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734226 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - ZDHHC6 Gly86Glu G86E not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TDRD1 Val439Met V439M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWA2 Val483Met V483M not reviewed Insufficiently evaluated not reviewed unknown Array 288 10758 0.0267708 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFAP1L2 Ser576Pro S576P not reviewed Insufficiently evaluated not reviewed unknown Array rs62641718 366 10758 0.0340212 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TACC2 Gln1308Lys Q1308K not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.569 - - -2 - 1 N - - TACC2 Pro1492Leu P1492L not reviewed Insufficiently evaluated not reviewed unknown Array rs7920896 593 10758 0.0551218 12 0 12 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - DMBT1 Asn566Ser N566S not reviewed Insufficiently evaluated not reviewed unknown Array 21 9994 0.00210126 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MKI67 Pro2842Ser P2842S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - MKI67 Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - C10ORF92 Arg837His R837H not reviewed Insufficiently evaluated not reviewed unknown Array rs73387072 8 120 0.0666667 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C10ORF92 Cys286Arg C286R not reviewed Insufficiently evaluated not reviewed unknown Array rs10870341 19 122 0.155738 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C10ORF92 Asp19Glu D19E not reviewed Insufficiently evaluated not reviewed unknown Array rs73391289 14 128 0.109375 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KNDC1 Gly1358Cys G1358C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 7 Y 0 N - - AK160367 Gly443Arg G443R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 Ala364Thr A364T not reviewed Insufficiently evaluated not reviewed unknown Array 379 10092 0.0375545 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 410 10464 0.039182 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Glu246Asp E246D not reviewed Insufficiently evaluated not reviewed unknown Array rs56085138 51 4566 0.0111695 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5AC Ala2146Thr A2146T not reviewed Insufficiently evaluated not reviewed unknown Array rs56079125 28 10048 0.00278662 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Ala5040Thr A5040T not reviewed Insufficiently evaluated not reviewed unknown Array rs2334756 2 10274 0.000194666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Thr5072Met T5072M not reviewed Insufficiently evaluated not reviewed unknown Array 176 9912 0.0177563 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_021489 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 10628 0.0110087 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP98 Ser1022Leu S1022L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NUP98 Thr85Ala T85A not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - OR52J3 Asn211Lys N211K not reviewed Insufficiently evaluated not reviewed unknown Array rs61995688 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51Q1 Ser219Phe S219F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - TRIM22 Ser244Leu S244L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735273 455 10192 0.0446429 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - OR56B1 Ser221Asn S221N not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - OR52B2 Ile27Leu I27L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738682 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM160A2 Pro438Leu P438L not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DCHS1 Arg2359Cys R2359C not reviewed Insufficiently evaluated not reviewed unknown Array rs2659875 164 10758 0.0152445 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - DCHS1 Arg2091Thr R2091T not reviewed Insufficiently evaluated not reviewed unknown Array rs2659874 186 10758 0.0172895 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GVINP1 Leu658Phe L658F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GVINP1 Ser106Arg S106R not reviewed Insufficiently evaluated not reviewed unknown Array rs16917397 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR6A2 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - OR10A5 Thr85Asn T85N not reviewed Insufficiently evaluated not reviewed unknown Array 228 10750 0.0212093 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.053 - - 1 - 0 N - - OR10A5 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BC068088 Val65Leu V65L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRVI1 Leu371Phe L371F not reviewed Insufficiently evaluated not reviewed unknown Array 52 9588 0.00542344 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DKK3 Glu307Gly E307G not reviewed Insufficiently evaluated not reviewed unknown Array 251 10758 0.0233315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SERGEF Ala398Ser A398S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - -1 - 2 N - - MRGPRX3 Leu198Arg L198R not reviewed Insufficiently evaluated not reviewed unknown Array rs28482781 258 10758 0.0239822 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - E2F8 Ile674Val I674V not reviewed Insufficiently evaluated not reviewed unknown Array rs793274 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - NAV2 Ser1357Asn S1357N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NELL1 Gly483Ser G483S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ANO5 Thr206Ala T206A not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - ANO5 Asn882Lys N882K not reviewed Insufficiently evaluated not reviewed unknown Array rs34969327 139 10756 0.012923 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - QSER1 Gly744Ser G744S not reviewed Insufficiently evaluated not reviewed unknown Array 16 9842 0.00162569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAG1 Glu880Lys E880K not reviewed Insufficiently evaluated not reviewed unknown Array rs4151033 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.302 Y - 0 - 2 N - - FNBP4 Thr794Ala T794A not reviewed Insufficiently evaluated not reviewed unknown Array rs35040940 89 9732 0.00914509 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PTPRJ Ala293Thr A293T not reviewed Insufficiently evaluated not reviewed unknown Array rs2229701 217 10758 0.020171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - PTPRJ Ile1235Thr I1235T not reviewed Insufficiently evaluated not reviewed unknown Array rs11039554 236 10758 0.0219372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 0 N - - FOLH1 Leu5Del L5Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR10AG1 Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.404 - - 1 - 1 N - - OR8J3 Met258Thr M258T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - OR8U8 Asn5Ser N5S not reviewed Insufficiently evaluated not reviewed unknown Array 414 9620 0.0430353 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 2 N - - OR8U8 His229Tyr H229Y not reviewed Insufficiently evaluated not reviewed unknown Array 94 10274 0.00914931 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.587 - - -1 - 1 N - - OR8U8 Ala267Ser A267S not reviewed Insufficiently evaluated not reviewed unknown Array 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR5M8 Asn205Lys N205K not reviewed Insufficiently evaluated not reviewed unknown Array rs61902888 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - AB231740 Asp70Tyr D70Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APLNR Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array rs7943508 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - SLC15A3 Pro303Arg P303R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - AHNAK Asp4476Val D4476V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - AHNAK Asp4402His D4402H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - AHNAK Gln3903Lys Q3903K not reviewed Insufficiently evaluated not reviewed unknown Array rs1293031 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK Gln3142Arg Q3142R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - WDR74 Met58Val M58V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10294 0.00408005 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRASLS2 Arg18Cys R18C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MAP4K2 Arg580His R580H not reviewed Insufficiently evaluated not reviewed unknown Array rs34264803 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - MAP4K2 Ala120Ser A120S not reviewed Insufficiently evaluated not reviewed unknown Array 148 10748 0.01377 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC42BPG Ser1482Arg S1482R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744174 146 10546 0.0138441 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - ATG2A Ala857Val A857V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741398 239 10690 0.0223573 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 1 N - - ATG2A Val664Met V664M not reviewed Insufficiently evaluated not reviewed unknown Array rs61746812 205 10750 0.0190698 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - BC104003 Gly157Asp G157D not reviewed Insufficiently evaluated not reviewed unknown Array rs35983251 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNHIT2 Ala176Val A176V not reviewed Insufficiently evaluated not reviewed unknown Array rs35983251 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - SCYL1 Thr332Met T332M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.114 - - 2 - 0 N - - PITPNM1 Arg685His R685H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10750 0.00232558 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH3B2 Val147Met V147M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC93B1 Gly589Trp G589W not reviewed Insufficiently evaluated not reviewed unknown Array rs2375182 10 2154 0.00464253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPFIA1 Gly219Glu G219E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STARD10 Ile183Val I183V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10090 0.00158573 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - MRPL48 Ala65Gly A65G not reviewed Insufficiently evaluated not reviewed unknown Array 9 9572 0.000940242 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - CCDC81 Phe321Leu F321L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAT3 Arg1733His R1733H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10002 0.0019996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAT3 Asn3387Lys N3387K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 1 - 1 N - - KIAA1731 Ser440Phe S440F not reviewed Insufficiently evaluated not reviewed unknown Array rs60226346 21 3234 0.00649351 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - KIAA1731 Thr864Arg T864R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1731 Phe888Ser F888S not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - KIAA1731 Glu1026Lys E1026K not reviewed Insufficiently evaluated not reviewed unknown Array rs3802771 23 3234 0.00711193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 1 N - - KIAA1731 Leu1459Arg L1459R not reviewed Insufficiently evaluated not reviewed unknown Array rs3802774 23 3234 0.00711193 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.693 - - 6 Y 1 N - - KIAA1731 Lys1594Gln K1594Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 3234 0.00711193 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MED17 Phe357Leu F357L not reviewed Insufficiently evaluated not reviewed unknown Array rs35313315 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR83 Asp218Glu D218E not reviewed Insufficiently evaluated not reviewed unknown Array rs61734489 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC82 Ser154Asn S154N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PGR Cys347Ser C347S not reviewed Insufficiently evaluated not reviewed unknown Array rs11571147 297 10438 0.0284537 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - KIAA1377 Ser372Pro S372P not reviewed Insufficiently evaluated not reviewed unknown Array rs61745759 257 10748 0.0239114 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CWF19L2 Glu577Ala E577A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALKBH8 Asn49Ser N49S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - NPAT Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9468 0.000316856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - HTR3A Leu121Phe L121F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - VPS11 Ser467Leu S467L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDZD3 Arg470Trp R470W not reviewed Insufficiently evaluated not reviewed unknown Array rs45559545 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCAM Leu394Met L394M not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - C11ORF63 Ile757Leu I757L not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BSX His231Gln H231Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61737277 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - ADAMTS8 Val391Met V391M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10500 0.00209524 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKBP4 Gln454His Q454H not reviewed Insufficiently evaluated not reviewed unknown Array rs1803817 98 10748 0.00911797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.123 - - -1 - 0 N - - KCNA5 Gly31Val G31V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737395 117 9476 0.012347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - NCAPD2 Arg1218Leu R1218L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731148 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.881 - - 6 Y 2 N - - BC073935 Ala147Val A147V not reviewed Insufficiently evaluated not reviewed unknown Array rs4579987 1 8 0.125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - A2ML1 Ser1127Leu S1127L not reviewed Insufficiently evaluated not reviewed unknown Array rs61749078 120 9948 0.0120627 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.17 - - 6 Y 0 N - - A2ML1 Thr1131Met T1131M not reviewed Insufficiently evaluated not reviewed unknown Array rs7959680 125 9954 0.0125578 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.755 - - 2 - 1 N - - DDX47 Ala38Val A38V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PIK3C2G Cys337Gly C337G not reviewed Insufficiently evaluated not reviewed unknown Array 33 9412 0.00350616 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLCO1C1 Glu134Lys E134K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - SLCO1B1 Ile222Val I222V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLCO1A2 Ser405Phe S405F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 5 Y 0 N - - LRMP Thr38Ala T38A not reviewed Insufficiently evaluated not reviewed unknown Array rs6487451 233 10758 0.0216583 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF71 Ala245Ser A245S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732116 208 10214 0.0203642 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF72 Leu241Phe L241F not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYT10 Ala505Val A505V not reviewed Insufficiently evaluated not reviewed unknown Array rs34361405 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - C12ORF40 Asp337Val D337V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9624 0.000519534 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DDN Pro304Arg P304R not reviewed Insufficiently evaluated not reviewed unknown Array rs61552095 5 126 0.0396825 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RHEBL1 Ile76Thr I76T not reviewed Insufficiently evaluated not reviewed unknown Array rs61751607 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.706 - - 3 - 1 N - - KRT7 Ala262Thr A262T not reviewed Insufficiently evaluated not reviewed unknown Array 198 10758 0.0184049 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - KRT85 Cys234Gly C234G not reviewed Insufficiently evaluated not reviewed unknown Array rs61740813 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.224 - - 7 Y 1 N - - KRT74 Leu422Met L422M not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.032 - - -3 - 0 N - - KRT76 Phe106Leu F106L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730592 215 10756 0.0199888 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CALCOCO1 Arg373Lys R373K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -3 - 2 N - - SMUG1 Gly15Val G15V not reviewed Insufficiently evaluated not reviewed unknown Array rs2233920 188 10758 0.0174754 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.125 - - 8 Y 0 N - - METTL7B Pro76His P76H not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MMP19 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - GLI1 Arg405Gln R405Q not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ARHGAP9 Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TSFM Leu266Ile L266I not reviewed Insufficiently evaluated not reviewed unknown Array rs62000432 78 10756 0.00725177 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -2 - 1 N - - CCDC59 Lys217Arg K217R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -3 - 2 N - - C12ORF26 Lys499Arg K499R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10744 0.00176843 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMTC2 Gln347His Q347H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF12 Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UTP20 Leu107Val L107V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - EID3 Ile259Val I259V not reviewed Insufficiently evaluated not reviewed unknown Array 69 9496 0.00726622 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.627 - - -4 - 1 N - - MTERFD3 Val198Ile V198I not reviewed Insufficiently evaluated not reviewed unknown Array rs1043157 84 10754 0.00781105 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ASCL4 Leu30Phe L30F not reviewed Insufficiently evaluated not reviewed unknown Array 4 124 0.0322581 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - GIT2 Phe430Leu F430L not reviewed Insufficiently evaluated not reviewed unknown Array rs34172917 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - RAD9B Thr157Met T157M not reviewed Insufficiently evaluated not reviewed unknown Array rs7969568 128 10748 0.0119092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAD9B Asp278Asn D278N not reviewed Insufficiently evaluated not reviewed unknown Array rs57448366 112 10758 0.0104109 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OAS3 Ser987Cys S987C not reviewed Insufficiently evaluated not reviewed unknown Array 8 9998 0.00080016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXW8 Glu253Asp E253D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - -2 - 1 N - - SRRM4 Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array 232 9864 0.0235199 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM120B Gly201Ala G201A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10006 9.994e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 1 - 2 N - - MLXIP Leu373Ile L373I not reviewed Insufficiently evaluated not reviewed unknown Array 134 10134 0.0132228 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 1 N - - MLXIP Pro481Leu P481L not reviewed Insufficiently evaluated not reviewed unknown Array rs35737737 147 10684 0.0137589 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.566 - - 7 Y 1 N - - MLXIP Gln812His Q812H not reviewed Insufficiently evaluated not reviewed unknown Array 3 9788 0.000306497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - DIABLO Arg202Gln R202Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - VPS33A Ile92Leu I92L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - KNTC1 Val335Phe V335F not reviewed Insufficiently evaluated not reviewed unknown Array 2 9456 0.000211505 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - KNTC1 Thr2195Ala T2195A not reviewed Insufficiently evaluated not reviewed unknown Array 49 9678 0.00506303 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC62 Tyr313Phe Y313F not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.806 - - -4 - 1 N - - SETD8 Ala166Val A166V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10750 0.00381395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DDX55 Leu78Ile L78I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - NM_001083900 Asn1100Ser N1100S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Glu1186Lys E1186K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Ser3208Asn S3208N not reviewed Insufficiently evaluated not reviewed unknown Array rs61744221 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Val3816Phe V3816F not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NCOR2 Ala2422Val A2422V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9682 0.000103284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIMBP2 Ala77Gly A77G not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK096230 Arg260His R260H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MPHOSPH8 Lys201Arg K201R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10750 0.00306977 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - LATS2 Asp1013Asn D1013N not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LATS2 Asp852Glu D852E not reviewed Insufficiently evaluated not reviewed unknown Array rs61745905 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CENPJ Ile126Leu I126L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 - Y -2 - 1 N - - GTF3A Asn105Thr N105T not reviewed Insufficiently evaluated not reviewed unknown Array rs1803810 208 7382 0.0281766 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USPL1 Ala392Ser A392S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.28 - - -1 - 1 N - - USPL1 Asn399His N399H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - 0 - 1 N - - FAM48A Met154Val M154V not reviewed Insufficiently evaluated not reviewed unknown Array rs7324275 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - NAA16 Glu344Gly E344G not reviewed Insufficiently evaluated not reviewed unknown Array rs17062054 925 10740 0.0861266 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.544 - - 6 Y 0 N - - KIAA1704 Ser254Pro S254P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 3 - 2 N - - AL833908 His420Tyr H420Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO16 Gly43Ala G43A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - OR4K1 Met190Ile M190I not reviewed Insufficiently evaluated not reviewed unknown Array 321 10758 0.0298383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - TMEM55B Pro34Ser P34S not reviewed Insufficiently evaluated not reviewed unknown Array 5 8890 0.000562429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGEF40 Arg823Gln R823Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734981 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 1 N - - OR10G2 Gln43Arg Q43R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754893 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - EFS Arg156Gln R156Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2231804 81 10728 0.00755034 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - IPO4 Ala758Thr A758T not reviewed Insufficiently evaluated not reviewed unknown Array 135 10448 0.0129211 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NYNRIN Glu1799Lys E1799K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 0 - 1 N - - GZMH Stop247Leu X247L not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF23 LysLys115AsnLysGln KK115NKQ not reviewed Insufficiently evaluated not reviewed unknown Array rs34203558 8 76 0.105263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - COCH Asp281Asn D281N not reviewed Insufficiently evaluated not reviewed unknown Array rs28362775 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - -1 - 1 N - - AKAP6 Glu2168Asp E2168D not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - DPPA3 Asn116Lys N116K not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PNN Arg56Ser R56S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - FSCB Glu824Asp E824D not reviewed Insufficiently evaluated not reviewed unknown Array rs34192752 73 10754 0.00678817 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTGDR Gly198Glu G198E not reviewed Insufficiently evaluated not reviewed unknown Array rs41312444 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - TXNDC16 Val405Met V405M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743877 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 0 N - - WDHD1 Phe338Leu F338L not reviewed Insufficiently evaluated not reviewed unknown Array rs8020032 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.44 - - 0 - 1 N - - WDHD1 Asp167Ala D167A not reviewed Insufficiently evaluated not reviewed unknown Array 58 10756 0.00539234 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 2 N - - MUDENG Gly226Arg G226R not reviewed Insufficiently evaluated not reviewed unknown Array rs10137359 385 10624 0.0362387 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - DACT1 Leu435Pro L435P not reviewed Insufficiently evaluated not reviewed unknown Array 45 10756 0.00418371 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF50 Met31Lys M31K not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BX161387 Val70Leu V70L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BX161387 Ala35Del A35Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHH1 Pro1154Ser P1154S not reviewed Insufficiently evaluated not reviewed unknown Array 86 9788 0.00878627 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - RAD51L1 Leu374Pro L374P not reviewed Insufficiently evaluated not reviewed unknown Array rs61755650 40 5142 0.00777907 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF181 Cys92Tyr C92Y not reviewed Insufficiently evaluated not reviewed unknown Array 64 10016 0.00638978 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAPLN Val416Ile V416I not reviewed Insufficiently evaluated not reviewed unknown Array rs17126352 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAPLN Gly869Arg G869R not reviewed Insufficiently evaluated not reviewed unknown Array rs177386 288 10734 0.0268306 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM90A Gly50Arg G50R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738680 75 9790 0.00766088 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PROX2 Pro318Arg P318R not reviewed Insufficiently evaluated not reviewed unknown Array 116 9634 0.0120407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.768 - - 5 Y 1 N - - ANGEL1 Arg587His R587H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.482 - - 1 - 1 N - - EML5 Ala1787Glu A1787E not reviewed Insufficiently evaluated not reviewed unknown Array 93 9612 0.0096754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINA3 Met290Ile M290I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 2 N - - SERPINA13 Arg197Cys R197C not reviewed Insufficiently evaluated not reviewed unknown Array rs74074541 157 10758 0.0145938 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RAGE Pro170Ser P170S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - XRCC3 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array rs3212057 59 10008 0.00589528 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.273 - - 1 - 1 N - - AHNAK2 Asp4423Val D4423V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10050 0.00368159 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - AHNAK2 Thr3566Met T3566M not reviewed Insufficiently evaluated not reviewed unknown Array 622 9570 0.0649948 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - AHNAK2 Leu3564Phe L3564F not reviewed Insufficiently evaluated not reviewed unknown Array 595 9558 0.0622515 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.523 - - 0 - 0 N - - AHNAK2 Ser3510Pro S3510P not reviewed Insufficiently evaluated not reviewed unknown Array rs2819425 185 9828 0.0188238 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - AHNAK2 AspLeu3176GluVal DL3176EV not reviewed Insufficiently evaluated not reviewed unknown Array rs2819426 24 88 0.272727 15 0 15 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AHNAK2 Lys2830Glu K2830E not reviewed Insufficiently evaluated not reviewed unknown Array 63 9934 0.00634186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - AHNAK2 Gly2824Arg G2824R not reviewed Insufficiently evaluated not reviewed unknown Array 148 9940 0.0148893 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - AHNAK2 Met2806Val M2806V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - AHNAK2 Lys2773Glu K2773E not reviewed Insufficiently evaluated not reviewed unknown Array 10 9594 0.00104232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AHNAK2 Lys2410Arg K2410R not reviewed Insufficiently evaluated not reviewed unknown Array rs11845746 472 9582 0.049259 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 1 N - - AHNAK2 Val2183Ala V2183A not reviewed Insufficiently evaluated not reviewed unknown Array 66 9800 0.00673469 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.417 - - 2 - 1 N - - AHNAK2 ProPro2180GluLeu PP2180EL not reviewed Insufficiently evaluated not reviewed unknown Array 3 86 0.0348837 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Val1835Ala V1835A not reviewed Insufficiently evaluated not reviewed unknown Array 25 9770 0.00255885 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - AHNAK2 Asp1808Glu D1808E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.268 - - -2 - 1 N - - AHNAK2 Val1803Ala V1803A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10068 0.00188717 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 2 - 0 N - - AHNAK2 Pro1429Thr P1429T not reviewed Insufficiently evaluated not reviewed unknown Array 598 7414 0.0806582 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 1 N - - C14ORF79 Ser75Arg S75R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10044 0.00756671 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4M2 Arg284Cys R284C not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - NDN Pro88Leu P88L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10184 0.00824823 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - C15ORF2 Gln1042His Q1042H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HERC2 Pro3425Leu P3425L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.172 - - 7 Y 0 N - - GOLGA8A Leu569Val L569V not reviewed Insufficiently evaluated not reviewed unknown Array rs2615360 4 10 0.4 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - AQR Ser164Asn S164N not reviewed Insufficiently evaluated not reviewed unknown Array 39 9708 0.00401731 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCO5A AlaCys140GluArg AC140ER not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLCB2 His312Gln H312Q not reviewed Insufficiently evaluated not reviewed unknown Array 92 10582 0.00869401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPTBN5 Arg257Lys R257K not reviewed Insufficiently evaluated not reviewed unknown Array rs890499 455 8648 0.0526133 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - STARD9 Asn198Ser N198S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TP53BP1 Ala1170Gly A1170G not reviewed Insufficiently evaluated not reviewed unknown Array rs45500399 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR76 Lys165Thr K165T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - SHC4 Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - ATP8B4 Tyr991His Y991H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - MYO5C Gln706Arg Q706R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO5A Ser1673Leu S1673L not reviewed Insufficiently evaluated not reviewed unknown Array rs9282796 15 10706 0.00140108 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRINL1A Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array 54 9666 0.00558659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HERC1 Pro3596Ser P3596S not reviewed Insufficiently evaluated not reviewed unknown Array 36 9666 0.00372439 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - ZNF609 His1241Asp H1241D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PIF1 Ala631Pro A631P not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGDCC3 Val52Ile V52I not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IGDCC4 Val423Leu V423L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10660 0.00121951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - IGDCC4 Gly396Ser G396S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10650 0.00131455 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.15 - - 2 - 0 N - - RPL4 Glu254Asp E254D not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - -2 - 0 N - - BC016970 Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IQCH Ile402Thr I402T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - GLCE Lys83Arg K83R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746980 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADPGK Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9870 0.000506585 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - ADPGK Leu60Phe L60F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHRNA5 Leu317Val L317V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - CHRNA5 Leu363Gln L363Q not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.463 - - 5 Y 1 N - - ADAMTS7 Ala1104Del A1104Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 66 0.0454545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL16 His1176Arg H1176R not reviewed Insufficiently evaluated not reviewed unknown Array rs34159341 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFTUD1 Asn342Ser N342S not reviewed Insufficiently evaluated not reviewed unknown Array 13 9592 0.0013553 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - EFTUD1 Asn83Asp N83D not reviewed Insufficiently evaluated not reviewed unknown Array 113 9694 0.0116567 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM154B Ala340Gly A340G not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - FAM154B Ser371Pro S371P not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - WHAMM ProProPro656Del PPP656Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 116 0.0603448 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ACAN Gly2049Glu G2049E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC156598 Glu16Lys E16K not reviewed Insufficiently evaluated not reviewed unknown Array rs369322 8 126 0.0634921 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C16ORF11 Cys189Arg C189R not reviewed Insufficiently evaluated not reviewed unknown Array 2 62 0.0322581 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WFIKKN1 Pro171Leu P171L not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - LMF1 Phe275Leu F275L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745065 260 10446 0.0248899 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAIAP3 His17Tyr H17Y not reviewed Insufficiently evaluated not reviewed unknown Array 37 10340 0.00357834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GNPTG Ser304Gly S304G not reviewed Insufficiently evaluated not reviewed unknown Array rs7187001 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 - - 2 - 0 N - - PTX4 Leu289Pro L289P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBL3 Pro450Arg P450R not reviewed Insufficiently evaluated not reviewed unknown Array rs17603 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GFER Val177Gly V177G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C16ORF59 Gly169Arg G169R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9790 0.00020429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLYWCH1 Asn496Ile N496I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLX4 Glu942Gln E942Q not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.13 - - -2 - 0 N - - SEPT12 Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - PPL Lys1239Glu K1239E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF68 Ala161Val A161V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10418 0.00403148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BFAR Arg245His R245H not reviewed Insufficiently evaluated not reviewed unknown Array rs35377618 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - AK310228 Ser62Asn S62N not reviewed Insufficiently evaluated not reviewed unknown Array 4 6 0.666667 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DNAH3 Ala1835Thr A1835T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - UQCRC2 Arg148Ser R148S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228473 282 10758 0.026213 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.184 - - 3 - 0 N - - VWA3A Tyr642Cys Y642C not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNRC6A Ser396Gly S396G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - NM_018690 Gln807Pro Q807P not reviewed Insufficiently evaluated not reviewed unknown Array 107 10282 0.0104065 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001080829 Glu141Ala E141A not reviewed Insufficiently evaluated not reviewed unknown Array rs419497 44 94 0.468085 18 0 32 0 0 - - - - - - - - - - - - - - - - 0.029 - - 3 - 0 N - - C16ORF54 Arg191Trp R191W not reviewed Insufficiently evaluated not reviewed unknown Array rs35764197 202 10580 0.0190926 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEZ6L2 Glu778Lys E778K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.229 - - 0 - 1 N - - TBX6 Arg156Leu R156L not reviewed Insufficiently evaluated not reviewed unknown Array 210 10754 0.0195276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - 6 Y 1 N - - MYLPF Val151Ala V151A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 2 - 0 N - - ZNF747 Gly28Arg G28R not reviewed Insufficiently evaluated not reviewed unknown Array rs35512295 85 10620 0.00800377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 6 Y 0 N - - ZNF689 ProGlyLeu190Del PGL190Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBRS Pro124Ser P124S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10538 0.00275195 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF267 Asp191Gly D191G not reviewed Insufficiently evaluated not reviewed unknown Array rs35042804 45 10746 0.0041876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS35 Ala626Val A626V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.081 - - 2 - 0 N - - FTO Gly182Ala G182A not reviewed Insufficiently evaluated not reviewed unknown Array rs61743972 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - MT1X Glu23Gln E23Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C16ORF70 Gly223Glu G223E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC12A4 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61738598 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - HYDIN Gly3973Arg G3973R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR59 Gly803Cys G803C not reviewed Insufficiently evaluated not reviewed unknown Array rs61733726 151 10758 0.0140361 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.877 - - 7 Y 2 N - - CNTNAP4 Asn1227Ser N1227S not reviewed Insufficiently evaluated not reviewed unknown Array rs34198820 39 9690 0.00402477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSD17B2 Ala258Val A258V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC38A8 Val431Ile V431I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - TAF1C Val760Ile V760I not reviewed Insufficiently evaluated not reviewed unknown Array rs61753438 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TAF1C Thr697Met T697M not reviewed Insufficiently evaluated not reviewed unknown Array rs4150175 60 10736 0.00558867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK123582 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10704 0.0060725 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP2C2 Ile816Val I816V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATP2C2 Arg938Thr R938T not reviewed Insufficiently evaluated not reviewed unknown Array 59 9972 0.00591657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1609 Glu105Del E105Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0182 ArgGlu351Del RE351Del not reviewed Insufficiently evaluated not reviewed unknown Array rs62643366 8 104 0.0769231 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZCCHC14 Gly244Ala G244A not reviewed Insufficiently evaluated not reviewed unknown Array rs13338940 530 10756 0.0492748 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747795 Ser66Cys S66C not reviewed Insufficiently evaluated not reviewed unknown Array rs35597890 4 122 0.0327869 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHDC4 Leu402Phe L402F not reviewed Insufficiently evaluated not reviewed unknown Array rs61735152 25 10752 0.00232515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GALNS Ala459Val A459V not reviewed Insufficiently evaluated not reviewed unknown Array 400 10682 0.0374462 6 0 7 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - PABPN1L Val130Met V130M not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PABPN1L Glu43Asp E43D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - -2 - 0 N - - ZNF778 Ile390Thr I390T not reviewed Insufficiently evaluated not reviewed unknown Array 236 10530 0.0224122 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPNE7 Lys432Glu K432E not reviewed Insufficiently evaluated not reviewed unknown Array rs35731090 111 10680 0.0103933 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDK10 Pro96Leu P96L not reviewed Insufficiently evaluated not reviewed unknown Array rs55819627 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 7 Y 2 N - - FAM101B Ala3Pro A3P not reviewed Insufficiently evaluated not reviewed unknown Array 96 9810 0.00978593 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM101B Ser1Asn S1N not reviewed Insufficiently evaluated not reviewed unknown Array 27 9796 0.00275623 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEMIN4 Val376Ala V376A not reviewed Insufficiently evaluated not reviewed unknown Array 84 10104 0.00831354 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTN4RL1 Ala308Val A308V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10590 0.00585458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_002943 Ser227Arg S227R not reviewed Insufficiently evaluated not reviewed unknown Array rs73976511 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR3A1 Ser78Gly S78G not reviewed Insufficiently evaluated not reviewed unknown Array rs16952828 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.668 - - 2 - 1 N - - ITGAE Ala931Gly A931G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TM4SF5 Gly125Asp G125D not reviewed Insufficiently evaluated not reviewed unknown Array rs35838872 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VMO1 Ser124Leu S124L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - GP1BA Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array rs6068 69 10582 0.00652051 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - KIAA0753 Thr445Met T445M not reviewed Insufficiently evaluated not reviewed unknown Array 216 9600 0.0225 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - KIAA0753 Val219Ile V219I not reviewed Insufficiently evaluated not reviewed unknown Array 194 9732 0.0199342 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.29 - - -4 - 1 N - - KIAA0753 His159Pro H159P not reviewed Insufficiently evaluated not reviewed unknown Array 204 10398 0.0196192 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - TEKT1 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 1 N - - SLC16A11 Phe405Leu F405L not reviewed Insufficiently evaluated not reviewed unknown Array rs35712788 40 10730 0.00372786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - MPDU1 Arg72Gln R72Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16956808 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - WRAP53 Gly408Asp G408D not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EFNB3 Pro306His P306H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10736 0.00391207 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 5 Y 0 N - - PER1 Ala827Thr A827T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF68 Arg436His R436H not reviewed Insufficiently evaluated not reviewed unknown Array 147 10192 0.0144231 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PFAS Asn361Ser N361S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3R6 Asp547Asn D547N not reviewed Insufficiently evaluated not reviewed unknown Array 9 9838 0.00091482 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYH1 Glu540Asp E540D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.465 - - -2 - 1 N - - TMEM220 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array 15 7836 0.00191424 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DNAH9 Met2087Val M2087V not reviewed Insufficiently evaluated not reviewed unknown Array rs9892290 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - DNAH9 Ala3210Ser A3210S not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -1 - 0 N - - CDRT4 Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array rs61742154 111 10758 0.0103179 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO15A Tyr2680Phe Y2680F not reviewed Insufficiently evaluated not reviewed unknown Array rs712270 4 56 0.0714286 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 1 N - - FAM106A Tyr24Cys Y24C not reviewed Insufficiently evaluated not reviewed unknown Array rs579020 11 70 0.157143 6 0 10 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SEBOX Cys124Ser C124S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PROCA1 Gly173Ser G173S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLFN11 Asp485Glu D485E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10672 0.00103073 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - SLFN13 Arg651Trp R651W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10618 0.000282539 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SLFN12L Glu512Asp E512D not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLFN14 Arg528His R528H not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSMB3 Ile82Thr I82T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 3 - 2 N - - PLXDC1 Arg42Leu R42L not reviewed Insufficiently evaluated not reviewed unknown Array rs35450036 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - CDC6 Thr299Met T299M not reviewed Insufficiently evaluated not reviewed unknown Array rs4135013 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KRT28 Ala41Asp A41D not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - KRTAP2-2 Leu10Phe L10F not reviewed Insufficiently evaluated not reviewed unknown Array 8 3120 0.0025641 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT33B Val279Leu V279L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10740 0.00158287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - KRT37 Val147Met V147M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - KRT32 Val385Ile V385I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - KRT32 Ile171Thr I171T not reviewed Insufficiently evaluated not reviewed unknown Array rs2071560 180 10758 0.0167317 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - GHDC Ala444Thr A444T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - AK092965 Ile24Val I24V not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NR_002773 Gln77Arg Q77R not reviewed Insufficiently evaluated not reviewed unknown Array rs28661937 7 122 0.057377 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC18A1 Val283Ile V283I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - NBR1 Ile912Val I912V not reviewed Insufficiently evaluated not reviewed unknown Array 70 7774 0.00900437 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC041481 Tyr546His Y546H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745789 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_175882 Ile148Met I148M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - NM_175882 Val170Ile V170I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDC27 PheGlu516CysLys FE516CK not reviewed Insufficiently evaluated not reviewed unknown Array 7 14 0.5 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TBKBP1 Gly330Cys G330C not reviewed Insufficiently evaluated not reviewed unknown Array 79 9888 0.00798948 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - GNGT2 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array rs9895097 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - CHAD Gln25Lys Q25K not reviewed Insufficiently evaluated not reviewed unknown Array rs35417848 231 10752 0.0214844 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - -2 - 0 N - - LUC7L3 Arg312Gln R312Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BZRAP1 Arg215Leu R215L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - C17ORF47 Lys10Arg K10R not reviewed Insufficiently evaluated not reviewed unknown Array 313 10758 0.0290946 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MARCH10 Gly587Ser G587S not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.902 - - 2 - 2 N - - ERN1 Asp595Asn D595N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - C17ORF60 Asn6Ser N6S not reviewed Insufficiently evaluated not reviewed unknown Array rs28375874 9 118 0.0762712 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LRRC37A3 His1308Gln H1308Q not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - -1 - 2 N - - AXIN2 Asn412Ser N412S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10686 0.00486618 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C17ORF80 Glu297Lys E297K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTYH2 Met196Thr M196T not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - GRIN2C Gly1180Arg G1180R not reviewed Insufficiently evaluated not reviewed unknown Array 104 10524 0.00988217 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OTOP3 Glu257Lys E257K not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OTOP3 Arg524Gln R524Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62638689 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - CASKIN2 Thr561Met T561M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10748 0.00418682 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LLGL2 Arg162His R162H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744731 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EVPL Val1539Leu V1539L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EVPL Gln451Lys Q451K not reviewed Insufficiently evaluated not reviewed unknown Array 70 10752 0.00651042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPHK1 Arg80Pro R80P not reviewed Insufficiently evaluated not reviewed unknown Array 16 9002 0.00177738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ST6GALNAC1 Ser33Phe S33F not reviewed Insufficiently evaluated not reviewed unknown Array rs34722280 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - MGAT5B Gly116Ser G116S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10746 0.0024195 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMC8 Val501Ile V501I not reviewed Insufficiently evaluated not reviewed unknown Array rs11651675 355 10756 0.0330048 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - AK125672 Gly72Glu G72E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AL832652 Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK057217 Glu182Gly E182G not reviewed Insufficiently evaluated not reviewed unknown Array rs8077028 19 128 0.148438 14 0 18 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC26A11 Pro182Ala P182A not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A11 Ser298Phe S298F not reviewed Insufficiently evaluated not reviewed unknown Array rs61910709 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC26A11 Arg557Cys R557C not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF213 Ser2887Arg S2887R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746605 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLUL1 Arg302Thr R302T not reviewed Insufficiently evaluated not reviewed unknown Array 12 9636 0.00124533 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - EPB41L3 Arg924Cys R924C not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EPB41L3 Ser832Ala S832A not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - LAMA1 Thr145Met T145M not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.884 - - 2 - 2 N - - IMPA2 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array rs16976948 218 10758 0.020264 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CEP192 GluGln384Gly EQ384G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF519 Gly89Ser G89S not reviewed Insufficiently evaluated not reviewed unknown Array rs10221432 182 10758 0.0169176 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DSG1 Ile613Met I613M not reviewed Insufficiently evaluated not reviewed unknown Array 329 10754 0.0305933 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - TRAPPC8 Met1034Val M1034V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAPPC8 Asn729Ser N729S not reviewed Insufficiently evaluated not reviewed unknown Array 417 10758 0.0387619 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAPPC8 Gln708Glu Q708E not reviewed Insufficiently evaluated not reviewed unknown Array rs16962530 417 10756 0.0387691 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF138 Glu3Asp E3D not reviewed Insufficiently evaluated not reviewed unknown Array 142 10754 0.0132044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 2 N - - MEP1B Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array 22 9908 0.00222043 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - KIAA1632 Arg1985Gln R1985Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34674177 124 10016 0.0123802 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 2 N - - KIAA1632 Ile1165Val I1165V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744077 71 9880 0.00718623 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TCEB3B Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array 155 10736 0.0144374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - HDHD2 Thr192Ala T192A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERPINB3 Asp76Gly D76G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - CD226 Arg279Lys R279K not reviewed Insufficiently evaluated not reviewed unknown Array rs72481820 792 10758 0.0736196 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CBLN2 Gly7Glu G7E not reviewed Insufficiently evaluated not reviewed unknown Array 3 3608 0.000831485 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - CR749350 Met171Ile M171I not reviewed Insufficiently evaluated not reviewed unknown Array rs6566798 13 128 0.101562 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CR618658 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8082945 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF516 Pro943Leu P943L not reviewed Insufficiently evaluated not reviewed unknown Array rs61733593 137 9202 0.0148881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GALR1 Val249Ile V249I not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTDP1 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - ODF3L2 Arg112Trp R112W not reviewed Insufficiently evaluated not reviewed unknown Array 342 10754 0.0318021 4 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - POLRMT Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10474 0.00553752 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - NM_024888 Gln314His Q314H not reviewed Insufficiently evaluated not reviewed unknown Array 91 6410 0.0141966 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARID3A Gly556Del G556Del not reviewed Insufficiently evaluated not reviewed unknown Array rs1051504 2 76 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SBNO2 Ala1106Val A1106V not reviewed Insufficiently evaluated not reviewed unknown Array rs11880694 232 9700 0.0239175 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - C19ORF26 Thr188Pro T188P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10732 0.000745434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - REXO1 Val98Met V98M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - TMPRSS9 Ala415Thr A415T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 2 N - - ZNF554 Val81Met V81M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - BC001528 Met79Val M79V not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF28 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array 202 7296 0.0276864 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK098244 Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK098244 Gly75Ser G75S not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK098244 Gly359Arg G359R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITGB1BP3 Glu178Lys E178K not reviewed Insufficiently evaluated not reviewed unknown Array rs16992131 257 10758 0.0238892 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - PLIN4 Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array rs61730731 149 10224 0.0145736 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - PLIN5 Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array rs10407239 331 10084 0.0328243 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - PLIN3 Val237Ile V237I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - -4 - 1 N - - PTPRS Ser1852Leu S1852L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PRR22 Pro186Ala P186A not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.472 - - 2 - 1 N - - EMR4P Val158Leu V158L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF18 Ala964Thr A964T not reviewed Insufficiently evaluated not reviewed unknown Array rs9329369 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF358 Ser545Thr S545T not reviewed Insufficiently evaluated not reviewed unknown Array 305 10758 0.028351 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.318 - - -2 - 1 N - - CCL25 Arg50Trp R50W not reviewed Insufficiently evaluated not reviewed unknown Array 30 10256 0.00292512 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBN3 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array rs35525553 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Pro12746Leu P12746L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10072 0.000297855 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Pro11912Thr P11912T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741223 182 9768 0.0186323 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Thr10770Ile T10770I not reviewed Insufficiently evaluated not reviewed unknown Array rs61738391 189 9972 0.0189531 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr8275Met T8275M not reviewed Insufficiently evaluated not reviewed unknown Array 185 10192 0.0181515 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ser5576Ala S5576A not reviewed Insufficiently evaluated not reviewed unknown Array 162 10144 0.01597 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Asp4590His D4590H not reviewed Insufficiently evaluated not reviewed unknown Array 173 10200 0.0169608 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr3163Met T3163M not reviewed Insufficiently evaluated not reviewed unknown Array 283 9922 0.0285225 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 GlnThrLeuThrPheThr3111Del QTLTFT3111Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Ala3101Thr A3101T not reviewed Insufficiently evaluated not reviewed unknown Array rs17000871 6 128 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Thr2834Met T2834M not reviewed Insufficiently evaluated not reviewed unknown Array rs10407623 248 10164 0.0243998 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ala2747Thr A2747T not reviewed Insufficiently evaluated not reviewed unknown Array rs10402538 238 9808 0.0242659 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Thr2540Pro T2540P not reviewed Insufficiently evaluated not reviewed unknown Array rs28595701 247 10460 0.0236138 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Ala2528Thr A2528T not reviewed Insufficiently evaluated not reviewed unknown Array rs28703580 254 10554 0.0240667 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Gly2445Asp G2445D not reviewed Insufficiently evaluated not reviewed unknown Array rs28641623 254 10428 0.0243575 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Asp2356Glu D2356E not reviewed Insufficiently evaluated not reviewed unknown Array rs10416013 239 9848 0.0242689 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Val2288Leu V2288L not reviewed Insufficiently evaluated not reviewed unknown Array rs10410933 240 9858 0.0243457 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Ala1919Thr A1919T not reviewed Insufficiently evaluated not reviewed unknown Array 239 9944 0.0240346 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 His1849Arg H1849R not reviewed Insufficiently evaluated not reviewed unknown Array 240 10034 0.0239187 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Glu1761Gly E1761G not reviewed Insufficiently evaluated not reviewed unknown Array 235 9950 0.0236181 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Pro1041Ser P1041S not reviewed Insufficiently evaluated not reviewed unknown Array rs10406202 243 9972 0.0243682 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Ser1032Thr S1032T not reviewed Insufficiently evaluated not reviewed unknown Array rs10411228 236 9998 0.0236047 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Ala715Thr A715T not reviewed Insufficiently evaluated not reviewed unknown Array 189 10342 0.018275 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Arg15Cys R15C not reviewed Insufficiently evaluated not reviewed unknown Array 227 10042 0.0226051 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR7G2 Gln4Arg Q4R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF177 Lys72Asn K72N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - ZNF440 Phe530Leu F530L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF443 Cys651Arg C651R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10756 0.00706582 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - C19ORF53 Val65Met V65M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PODNL1 His476Gln H476Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.099 - - -1 - 0 N - - PODNL1 Arg438Cys R438C not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - EMR2 Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC1A6 Ala222Thr A222T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - WIZ Arg648Pro R648P not reviewed Insufficiently evaluated not reviewed unknown Array 9 9648 0.000932835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR10H1 His128Asn H128N not reviewed Insufficiently evaluated not reviewed unknown Array 39 10754 0.00362656 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 0 - 2 N - - OR10H1 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 81 10750 0.00753488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - CYP4F2 Ala224Ser A224S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPAMD8 Asp1774Asn D1774N not reviewed Insufficiently evaluated not reviewed unknown Array rs10418195 51 3064 0.0166449 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ISYNA1 Glu205Lys E205K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - 0 - 1 N - - YJEFN3 Val225Met V225M not reviewed Insufficiently evaluated not reviewed unknown Array 10 9210 0.00108578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - GMIP Thr59Ile T59I not reviewed Insufficiently evaluated not reviewed unknown Array rs35122474 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF626 Gly459Asp G459D not reviewed Insufficiently evaluated not reviewed unknown Array 3 78 0.0384615 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF714 Ile473Val I473V not reviewed Insufficiently evaluated not reviewed unknown Array rs10427116 61 10750 0.00567442 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - ZNF493 Pro336Leu P336L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10740 0.000837988 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF43 Thr275Ile T275I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10754 0.00344058 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF99 Stop1037Tyr X1037Y not reviewed Insufficiently evaluated not reviewed unknown Array rs74170731 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF675 Asn110Ser N110S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10752 0.00446428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TDRD12 Ile157Val I157V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TDRD12 Thr1146Met T1146M not reviewed Insufficiently evaluated not reviewed unknown Array rs10408300 10 118 0.0847458 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCGBL Val72Met V72M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - ZNF599 Cys146Ser C146S not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - ZNF792 ArgSer349GlnArg RS349QR not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FFAR3 Ser346Asn S346N not reviewed Insufficiently evaluated not reviewed unknown Array rs381478 1 34 0.0294118 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.449 - - 0 - 1 N - - BC007817 Pro96Ser P96S not reviewed Insufficiently evaluated not reviewed unknown Array rs57670318 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR62 Asn409Asp N409D not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - -1 - 0 N - - ZFP14 Phe101Ile F101I not reviewed Insufficiently evaluated not reviewed unknown Array 131 10746 0.0121906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PLEKHG2 Thr498Ile T498I not reviewed Insufficiently evaluated not reviewed unknown Array rs35904695 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCGBP Ala5279Val A5279V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.08 - - 2 - 0 N - - FCGBP Pro4602Ser P4602S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10752 0.00390625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - FCGBP Thr661Ile T661I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - ZNF780A His563Arg H563R not reviewed Insufficiently evaluated not reviewed unknown Array rs73549809 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LIPE Lys497Asn K497N not reviewed Insufficiently evaluated not reviewed unknown Array rs35938529 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - LIPE Pro146Ser P146S not reviewed Insufficiently evaluated not reviewed unknown Array rs34348028 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - PSG5 Ala263Val A263V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10748 0.00418682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PSG5 Val231Leu V231L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10746 0.00400149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - 0 - 0 N - - BC034980 Pro278Leu P278L not reviewed Insufficiently evaluated not reviewed unknown Array 9 122 0.0737705 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC034980 Cys437Arg C437R not reviewed Insufficiently evaluated not reviewed unknown Array rs10410000 20 112 0.178571 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZFP112 Ile418Val I418V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PVRL2 Pro479Ser P479S not reviewed Insufficiently evaluated not reviewed unknown Array 35 9720 0.00360082 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GLTSCR2 Ser427Leu S427L not reviewed Insufficiently evaluated not reviewed unknown Array 72 10752 0.00669643 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CCDC114 Val442Ile V442I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LMTK3 Val938Ala V938A not reviewed Insufficiently evaluated not reviewed unknown Array rs61745738 892 9774 0.0912625 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SCAF1 Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPT1C Ala407Val A407V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748956 9 10718 0.000839708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTOV1 Val253Ile V253I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF473 Ser535Asn S535N not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - ASPDH Ala91Val A91V not reviewed Insufficiently evaluated not reviewed unknown Array rs61742056 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 2 - 1 N - - CD33 Phe44Ser F44S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736469 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - AK054965 Arg105Pro R105P not reviewed Insufficiently evaluated not reviewed unknown Array rs58301181 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FPR1 Ile263Thr I263T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF611 Ser649Cys S649C not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - AK056776 Pro188Leu P188L not reviewed Insufficiently evaluated not reviewed unknown Array rs10403404 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF415 Pro147Ala P147A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF677 Asp48His D48H not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.631 - - 3 - 1 N - - OSCAR Pro242Arg P242R not reviewed Insufficiently evaluated not reviewed unknown Array 95 9540 0.00995807 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LILRB3 His632Tyr H632Y not reviewed Insufficiently evaluated not reviewed unknown Array 384 10758 0.0356944 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRB3 Met556Ile M556I not reviewed Insufficiently evaluated not reviewed unknown Array 393 10756 0.0365377 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LAIR2 Ser123Thr S123T not reviewed Insufficiently evaluated not reviewed unknown Array rs12949 7 10578 0.00066175 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LILRB1 Ile235Met I235M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737863 150 10758 0.0139431 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NLRP2 Ile1034Val I1034V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735076 55 10758 0.00511247 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - EPN1 Glu319Ala E319A not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - NLRP4 Ile340Ser I340S not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - ZSCAN5B Met364Leu M364L not reviewed Insufficiently evaluated not reviewed unknown Array rs16987048 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF71 Pro121Leu P121L not reviewed Insufficiently evaluated not reviewed unknown Array rs35392779 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ZNF418 Ser467Phe S467F not reviewed Insufficiently evaluated not reviewed unknown Array 45 10750 0.00418605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 5 Y 1 N - - AK094748 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array rs58026274 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK094748 Cys323Arg C323R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744325 8 128 0.0625 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - TPO Val618Met V618M not reviewed Insufficiently evaluated not reviewed unknown Array rs10189135 618 10758 0.0574456 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - TPO Met706Val M706V not reviewed Insufficiently evaluated not reviewed unknown Array rs13431173 620 10758 0.0576315 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - TSSC1 Gln63Arg Q63R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 0 - 0 N - - ALLC Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35124934 89 9616 0.00925541 1 0 1 2 2 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - The activity of uric acid degrading enzymes was lost during vertebrate evolution. Mammals lack functional allantoicase. The human allantoicase gene is transcribed, but the mRNA lacks a continuous open reading frame. Mutations are therefore of no consequence. ALLC Cys290Arg C290R not reviewed Insufficiently evaluated not reviewed unknown Array rs6730396 120 9936 0.0120773 3 0 3 2 2 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - The activity of uric acid degrading enzymes was lost during vertebrate evolution. Mammals lack functional allantoicase. The human allantoicase gene is transcribed, but the mRNA lacks a continuous open reading frame. Mutations are therefore of no consequence. KLF11 Asp137Gly D137G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NBAS His1616Arg H1616R not reviewed Insufficiently evaluated not reviewed unknown Array rs35295359 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.739 - - 1 - 1 N - - NBAS Ser1252Tyr S1252Y not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.255 - - 5 Y 1 N - - KCNS3 Arg9His R9H not reviewed Insufficiently evaluated not reviewed unknown Array rs34458219 198 10758 0.0184049 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SDC1 Thr76Met T76M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230922 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - APOB Ile408Thr I408T not reviewed Insufficiently evaluated not reviewed unknown Array rs12714225 96 10758 0.00892359 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TMEM214 Glu426Gln E426Q not reviewed Insufficiently evaluated not reviewed unknown Array 141 10080 0.0139881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - -2 - 0 N - - ABHD1 Pro54Gln P54Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34127901 199 10758 0.0184979 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF513 Pro232Ser P232S not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTCAP3 Thr120Ala T120A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - CCDC121 Pro95Ala P95A not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM82A1 AsnAsp233LysTyr ND233KY not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HAAO Leu222Met L222M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - THADA Cys1668Arg C1668R not reviewed Insufficiently evaluated not reviewed unknown Array rs17030648 298 9596 0.0310546 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.949 - - 8 Y 2 N - - NM_001101330 Ser67Ile S67I not reviewed Insufficiently evaluated not reviewed unknown Array 251 9876 0.0254151 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCG8 Leu52Val L52V not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - GPR75 Cys160Gly C160G not reviewed Insufficiently evaluated not reviewed unknown Array rs35349235 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TSPYL6 Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array rs13424808 93 10222 0.00909802 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.143 - - 7 Y 0 N - - RTN4 Gly62Arg G62R not reviewed Insufficiently evaluated not reviewed unknown Array 4 8368 0.000478011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK096196 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array rs35587531 3 12 0.25 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VRK2 Phe502Leu F502L not reviewed Insufficiently evaluated not reviewed unknown Array 77 10756 0.00715879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - NFU1 Ala51Ser A51S not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - REG3G Pro72Arg P72R not reviewed Insufficiently evaluated not reviewed unknown Array 357 10758 0.0331846 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.706 - - 5 Y 1 N - - DNAH6 Glu84Del E84Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AB290165 Ser356Asn S356N not reviewed Insufficiently evaluated not reviewed unknown Array rs17025464 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB290165 Ala996Thr A996T not reviewed Insufficiently evaluated not reviewed unknown Array rs17025503 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF51 Pro133Leu P133L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745382 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001037228 Arg8Cys R8C not reviewed Insufficiently evaluated not reviewed unknown Array 97 9632 0.0100706 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FER1L5 Trp647Arg W647R not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - VWA3B Ser382Leu S382L not reviewed Insufficiently evaluated not reviewed unknown Array 33 9948 0.00331725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 6 Y 1 N - - VWA3B Arg802Trp R802W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10090 0.0012884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSGA10 Ile385Leu I385L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10744 0.00102383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC9A4 Asn665Ile N665I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 1 N - - RGPD4 Ser867Asn S867N not reviewed Insufficiently evaluated not reviewed unknown Array 4 120 0.0333333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK125994 Val63Met V63M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZC3H8 Gly164Asp G164D not reviewed Insufficiently evaluated not reviewed unknown Array 67 9804 0.00683394 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 2 N - - ZC3H6 Asn1102His N1102H not reviewed Insufficiently evaluated not reviewed unknown Array 8 9834 0.000813504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NT5DC4 Asp322Val D322V not reviewed Insufficiently evaluated not reviewed unknown Array rs13417956 11 128 0.0859375 8 0 8 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - BIN1 Thr532Met T532M not reviewed Insufficiently evaluated not reviewed unknown Array 377 10758 0.0350437 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.088 Y - 2 - 1 N - - MYO7B Ile1283Val I1283V not reviewed Insufficiently evaluated not reviewed unknown Array 178 9906 0.0179689 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - -4 - 0 N - - IMP4 Met257Val M257V not reviewed Insufficiently evaluated not reviewed unknown Array 226 10754 0.0210154 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.318 - - 0 - 1 N - - NCKAP5 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - ZRANB3 Val605Met V605M not reviewed Insufficiently evaluated not reviewed unknown Array rs61732190 264 9952 0.0265273 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - R3HDM1 Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - THSD7B Thr209Ile T209I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9764 0.000102417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THSD7B Ser503Phe S503F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10164 0.000491932 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LY75 GluAsp519AspTyr ED519DY not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAP Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array rs62001031 41 10756 0.00381183 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GALNT3 Glu136Gly E136G not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCN7A Gly904Arg G904R not reviewed Insufficiently evaluated not reviewed unknown Array rs34324751 33 9618 0.00343107 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP2 Asp1279Ala D1279A not reviewed Insufficiently evaluated not reviewed unknown Array rs17848149 421 10758 0.0391337 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y 5 Y 3 N - - LRP2 Ala57Val A57V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y 2 - 1 N - - NM_016653 Thr267Met T267M not reviewed Insufficiently evaluated not reviewed unknown Array rs6758025 321 10758 0.0298383 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - CALCRL Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array rs13391909 468 10666 0.0438777 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NAB1 Gly142Arg G142R not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - HECW2 Asn178Ser N178S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - MARCH4 Pro390Ser P390S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - VIL1 Asn593Lys N593K not reviewed Insufficiently evaluated not reviewed unknown Array rs61733654 155 10758 0.0144079 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - TTLL4 Val570Ile V570I not reviewed Insufficiently evaluated not reviewed unknown Array rs35012974 81 10758 0.00752928 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.306 - - -4 - 1 N - - ZFAND2B Arg247His R247H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - PTPRN Arg901Cys R901C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SPEG Val39Ala V39A not reviewed Insufficiently evaluated not reviewed unknown Array 24 5200 0.00461538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPEG Thr3169Met T3169M not reviewed Insufficiently evaluated not reviewed unknown Array rs61740202 71 9890 0.00717897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACCN4 Ala425Thr A425T not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - STK11IP Arg857Cys R857C not reviewed Insufficiently evaluated not reviewed unknown Array 145 10078 0.0143878 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - PID1 Glu40Lys E40K not reviewed Insufficiently evaluated not reviewed unknown Array 11 6172 0.00178224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARMC9 Ile209Thr I209T not reviewed Insufficiently evaluated not reviewed unknown Array rs16827883 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE6D Asp136Asn D136N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ATG16L1 Arg219Gln R219Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 0 - 1 N - - SCLY Ala11Ser A11S not reviewed Insufficiently evaluated not reviewed unknown Array 85 4894 0.0173682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - ESPNL Arg66Trp R66W not reviewed Insufficiently evaluated not reviewed unknown Array 4 9326 0.000428908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - NR_024014 Thr170Arg T170R not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAPN10 Ala477Thr A477T not reviewed Insufficiently evaluated not reviewed unknown Array 98 10036 0.00976485 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - MTERFD2 Asp347Del D347Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71862226 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DEFB129 Gln137Glu Q137E not reviewed Insufficiently evaluated not reviewed unknown Array 285 10758 0.0264919 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - TCF15 Gly157Ser G157S not reviewed Insufficiently evaluated not reviewed unknown Array 91 5426 0.0167711 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SCRT2 Ser307Arg S307R not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIRPB1 Glu94Asp E94D not reviewed Insufficiently evaluated not reviewed unknown Array 145 10656 0.0136074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TGM6 Arg434His R434H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TMC2 Leu181Gln L181Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 5 Y 2 N - - PTPRA Thr114Met T114M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 2 - 0 N - - MAVS Cys79Ile C79I not reviewed Insufficiently evaluated not reviewed unknown Array rs11908032 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHGB Lys504Glu K504E not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - MCM8 Asp494Glu D494E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - LRRN4 Ala270Thr A270T not reviewed Insufficiently evaluated not reviewed unknown Array rs34360701 407 10758 0.0378323 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - PAX1 Ala135Ser A135S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DEFB119 Stop89Glu X89E not reviewed Insufficiently evaluated not reviewed unknown Array rs12329612 9 128 0.0703125 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MMP24 Arg511His R511H not reviewed Insufficiently evaluated not reviewed unknown Array rs751887 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP250 Ala227Thr A227T not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP250 Ala1933Glu A1933E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - FER1L4 Phe283Ser F283S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FER1L4 Gly48Arg G48R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FER1L4 Ala611Thr A611T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPN2 Glu351Lys E351K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTI1 Gly366Cys G366C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 7 Y 1 N - - LBP Ala445Thr A445T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232619 481 10758 0.0447109 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.491 - - 1 - 1 N - - LPIN3 Arg790Gln R790Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.369 - - 0 - 1 N - - SGK3 Gln297Pro Q297P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEMG1 His359Gln H359Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - -1 - 2 N - - PIGT Pro577Gln P577Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 2 N - - EYA2 Ala93Thr A93T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - NFATC2 Val722Leu V722L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10742 9.3092e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - ZFP64 Phe425Tyr F425Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16996517 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - -4 - 2 N - - GCNT7 Asp178Tyr D178Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC037891 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs767670 18 128 0.140625 13 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RBM38 Val225Leu V225L not reviewed Insufficiently evaluated not reviewed unknown Array rs16980970 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTCFL Ala539Val A539V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746345 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF177 Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NTSR1 Val304Ile V304I not reviewed Insufficiently evaluated not reviewed unknown Array rs2273075 70 10718 0.00653107 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -4 - 2 N - - COL20A1 Met1268Thr M1268T not reviewed Insufficiently evaluated not reviewed unknown Array rs6011740 6 126 0.047619 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001037335 Pro2205His P2205H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10520 0.00123574 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - LIPI His17Asp H17D not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NRIP1 Ser917Leu S917L not reviewed Insufficiently evaluated not reviewed unknown Array 206 10756 0.0191521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.043 - - 6 Y 0 N - - TMPRSS15 Ala913Val A913V not reviewed Insufficiently evaluated not reviewed unknown Array rs73320125 631 10752 0.0586868 5 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 1 N - - JAM2 Leu235Phe L235F not reviewed Insufficiently evaluated not reviewed unknown Array rs7277917 27 9780 0.00276074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - DNAJC28 Lys290Gln K290Q not reviewed Insufficiently evaluated not reviewed unknown Array 257 10758 0.0238892 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GART Glu804Ala E804A not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GART Pro641Ala P641A not reviewed Insufficiently evaluated not reviewed unknown Array rs34588874 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 2 - 0 N - - CHAF1B Pro415Leu P415L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BRWD1 Val1532Met V1532M not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMGN1 Gly124Ser G124S not reviewed Insufficiently evaluated not reviewed unknown Array 7 122 0.057377 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - UBASH3A Asp428Glu D428E not reviewed Insufficiently evaluated not reviewed unknown Array rs17114930 825 10758 0.0766871 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C21ORF2 Ser208Leu S208L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10716 0.002053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP10-8 Arg251Cys R251C not reviewed Insufficiently evaluated not reviewed unknown Array 187 10750 0.0173953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C21ORF67 Pro201Ser P201S not reviewed Insufficiently evaluated not reviewed unknown Array rs7278337 10 128 0.078125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FTCD Asp161Glu D161E not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.037 Y - -2 - 1 N - - C21ORF58 Ser77Leu S77L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C21ORF58 Ser4Cys S4C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10742 0.0025135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCNT Glu2742Gln E2742Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35557109 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.197 - - -2 - 0 N - - CLTCL1 Arg481Gln R481Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIMBP3B Met939Val M939V not reviewed Insufficiently evaluated not reviewed unknown Array rs468687 16 16 1 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIMBP3C Met939Val M939V not reviewed Insufficiently evaluated not reviewed unknown Array rs468687 22 22 1 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC116 Arg268Cys R268C not reviewed Insufficiently evaluated not reviewed unknown Array rs28513567 398 10758 0.0369957 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C22ORF36 Arg115Leu R115L not reviewed Insufficiently evaluated not reviewed unknown Array 101 10484 0.00963373 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PIWIL3 Asn329Lys N329K not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.313 - - 1 - 1 N - - SGSM1 Pro480Leu P480L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10112 0.00316456 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC28 Asn2043Ser N2043S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744744 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEFH Ser580Phe S580F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UQCR10 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array rs14115 1193 10016 0.119109 16 0 17 0 0 - - - - - - - - - - - - - - - - 0.03 - - -4 - 0 N - - OSBP2 Arg396His R396H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - C22ORF30 Cys1827Tyr C1827Y not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF30 Phe1663Leu F1663L not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF30 Val1300Ile V1300I not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - APOL1 AsnTyr388Del NY388Del not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FOXRED2 Arg608Cys R608C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - SH3BP1 Gly582Ser G582S not reviewed Insufficiently evaluated not reviewed unknown Array 66 8988 0.00734312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JOSD1 Ser48Arg S48R not reviewed Insufficiently evaluated not reviewed unknown Array rs6001200 309 10758 0.0287228 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - APOBEC3A Thr19Ala T19A not reviewed Insufficiently evaluated not reviewed unknown Array rs17000556 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - APOBEC3B Leu189Pro L189P not reviewed Insufficiently evaluated not reviewed unknown Array 489 10720 0.0456157 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.473 - - 7 Y 1 N - - TAB1 Pro368Leu P368L not reviewed Insufficiently evaluated not reviewed unknown Array rs34288773 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.399 - - 7 Y 1 N - - CYP2D7P1 Arg25Pro R25P not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYP2D7P1 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array rs4987138 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRR5-ARHGAP8 Arg335Cys R335C not reviewed Insufficiently evaluated not reviewed unknown Array rs9626585 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TUBGCP6 Val1164Met V1164M not reviewed Insufficiently evaluated not reviewed unknown Array rs9628306 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 0 - 2 N - - FAM116B Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array rs11553143 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SBF1 Thr1480Ile T1480I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - SBF1 Pro506Ser P506S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10016 9.984e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 1 N - - KLHDC7B Val95Leu V95L not reviewed Insufficiently evaluated not reviewed unknown Array 3 100 0.03 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPT1B Glu729Lys E729K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - ITPR1 Asn984Ser N984S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - AK311646 Ala19Ser A19S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF32 Ser268Leu S268L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BRPF1 Thr385Ala T385A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGG1 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1805373 319 10758 0.0296524 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - RPUSD3 Gln118Arg Q118R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738608 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001008737 Arg24Gln R24Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 9718 0.00483639 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG7 Lys326Gln K326Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - RFTN1 Asp515Ala D515A not reviewed Insufficiently evaluated not reviewed unknown Array 2 76 0.0263158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SGOL1 Ala31Ser A31S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - NR1D2 Cys337Gly C337G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TOP2B Pro1500Thr P1500T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9664 0.00113824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CMTM8 Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SUSD5 Ile510Val I510V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10272 0.00048676 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - TRANK1 Gln2118Arg Q2118R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10302 0.00359153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA4 Leu1877Phe L1877F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - GOLGA4 Leu1928Val L1928V not reviewed Insufficiently evaluated not reviewed unknown Array 197 10758 0.018312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - DLEC1 Val243Ile V243I not reviewed Insufficiently evaluated not reviewed unknown Array 34 9974 0.00340886 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A13 Leu495Met L495M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.829 - - -3 - 1 N - - XYLB Asp133Asn D133N not reviewed Insufficiently evaluated not reviewed unknown Array rs2234610 372 10758 0.0345789 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GORASP1 Ser432Asn S432N not reviewed Insufficiently evaluated not reviewed unknown Array rs36101370 95 10758 0.00883064 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - ZBTB47 Leu324Arg L324R not reviewed Insufficiently evaluated not reviewed unknown Array 114 9202 0.0123886 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.194 - - 6 Y 0 N - - BX648094 Met1069Leu M1069L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF502 Thr147Ala T147A not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PTPN23 Pro784Ser P784S not reviewed Insufficiently evaluated not reviewed unknown Array 122 10750 0.0113488 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.552 - - 3 - 1 N - - CELSR3 Pro1573Leu P1573L not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - USP4 Tyr620Cys Y620C not reviewed Insufficiently evaluated not reviewed unknown Array rs9311440 175 10758 0.016267 1 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - MST1 Arg689Cys R689C not reviewed Insufficiently evaluated not reviewed unknown Array rs3197999 11 90 0.122222 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.554 - - 8 Y 0 N - - RNF123 Ser55Gly S55G not reviewed Insufficiently evaluated not reviewed unknown Array 2 16 0.125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 2 - 0 N - - C3ORF54 Met136Val M136V not reviewed Insufficiently evaluated not reviewed unknown Array rs9843677 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK311093 Thr25Met T25M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH1 Val1502Met V1502M not reviewed Insufficiently evaluated not reviewed unknown Array rs17052095 261 10588 0.0246505 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH1 Met2712Val M2712V not reviewed Insufficiently evaluated not reviewed unknown Array rs28434358 125 10490 0.0119161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA3G Val332Ile V332I not reviewed Insufficiently evaluated not reviewed unknown Array rs34540591 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PRKCD Val72Leu V72L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRG Arg776Cys R776C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAGI1 Pro1213His P1213H not reviewed Insufficiently evaluated not reviewed unknown Array 87 10652 0.00816748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SHQ1 Cys134Tyr C134Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61734040 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SHQ1 Ser27Phe S27F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ZNF717 ArgCys517HisArg RC517HR not reviewed Insufficiently evaluated not reviewed unknown Array 14 60 0.233333 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF717 Thr186Ile T186I not reviewed Insufficiently evaluated not reviewed unknown Array rs4582810 4 86 0.0465116 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PROS1 Ile592Met I592M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - EPHA6 Ala953Val A953V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10458 0.000669344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCBLD2 Arg572Gln R572Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 9696 0.0017533 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SENP7 GlnThr241HisSer QT241HS not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCNP Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array 72 8112 0.00887574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC101231 Asp16Glu D16E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DZIP3 Met278Ile M278I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - RETNLB Leu89Met L89M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - C3ORF66 Thr125Pro T125P not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC80 Ser32Asn S32N not reviewed Insufficiently evaluated not reviewed unknown Array 460 10758 0.0427589 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - C3ORF17 Pro31Ser P31S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10748 0.0029773 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYLK Arg506Gly R506G not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.165 - - 6 Y 0 N - - MYLK Arg378Gly R378G not reviewed Insufficiently evaluated not reviewed unknown Array rs11920433 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 6 Y 1 N - - SLC41A3 Thr254Met T254M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TXNRD3IT1 Ser30Ile S30I not reviewed Insufficiently evaluated not reviewed unknown Array rs73195848 446 10758 0.0414575 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C3ORF46 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array rs2271989 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C3ORF46 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array rs2271990 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CHCHD6 His213Tyr H213Y not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - PODXL2 GluGlu171Del EE171Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C3ORF25 Gln178Pro Q178P not reviewed Insufficiently evaluated not reviewed unknown Array 262 9742 0.0268939 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IFT122 Arg1174Cys R1174C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRH Arg226Trp R226W not reviewed Insufficiently evaluated not reviewed unknown Array 9 10738 0.000838144 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - COL6A5 Ile1114Met I1114M not reviewed Insufficiently evaluated not reviewed unknown Array rs1353613 54 3234 0.0166976 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.778 - - -1 - 1 N - - NEK11 Met568Lys M568K not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - ACPP Asp301Glu D301E not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GK5 Lys418Glu K418E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10074 9.9265e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - FAM194A Val501Leu V501L not reviewed Insufficiently evaluated not reviewed unknown Array 290 10758 0.0269567 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.797 - - 0 - 1 N - - AADACL2 Arg32His R32H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBBX Pro14Thr P14T not reviewed Insufficiently evaluated not reviewed unknown Array rs10936535 42 9370 0.00448239 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GHSR Leu91Phe L91F not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - NAALADL2 Gln640Arg Q640R not reviewed Insufficiently evaluated not reviewed unknown Array rs62286105 803 9494 0.0845797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.439 - - 0 - 0 N - - YEATS2 Gln192Arg Q192R not reviewed Insufficiently evaluated not reviewed unknown Array 9 9544 0.000943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - ABCF3 Arg510His R510H not reviewed Insufficiently evaluated not reviewed unknown Array rs9811715 183 10758 0.0170106 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - BC001200 Val233Leu V233L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC001200 Ser849Thr S849T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736691 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EIF4G1 Tyr311Cys Y311C not reviewed Insufficiently evaluated not reviewed unknown Array rs16858632 226 10758 0.0210076 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.123 - - 6 Y 0 N - - VPS8 Ser1317Asn S1317N not reviewed Insufficiently evaluated not reviewed unknown Array 127 9674 0.013128 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EHHADH Leu715Ser L715S not reviewed Insufficiently evaluated not reviewed unknown Array rs11927618 286 10758 0.0265849 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EHHADH Arg483Gln R483Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF59 Gly443Glu G443E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATP13A4 Arg629Ser R629S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 3 - 1 N - - MUC20 Pro501Leu P501L not reviewed Insufficiently evaluated not reviewed unknown Array 109 10030 0.0108674 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0226 Ala275Val A275V not reviewed Insufficiently evaluated not reviewed unknown Array 49 9772 0.00501433 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - PIGG Ala656Val A656V not reviewed Insufficiently evaluated not reviewed unknown Array rs61749092 147 10738 0.0136897 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMEM175 Ile78Thr I78T not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - CRIPAK Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRIPAK Thr109Met T109M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WHSC2 Ala221Pro A221P not reviewed Insufficiently evaluated not reviewed unknown Array rs2234565 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - FAM193A Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FAM193A Glu1098Asp E1098D not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - NOP14 Ala524Val A524V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NOP14 Glu359Lys E359K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743489 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - NOP14 Asp251Asn D251N not reviewed Insufficiently evaluated not reviewed unknown Array rs61740845 232 10758 0.0215653 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - RGS12 Met317Val M317V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 0 - 2 N - - DOK7 Thr14Ser T14S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - EVC2 Lys231Arg K231R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - -3 - 1 N - - AX746755 Leu261Val L261V not reviewed Insufficiently evaluated not reviewed unknown Array rs73085853 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ585121 Pro237Ser P237S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - QDPR His125Arg H125R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AK308144 His663Gln H663Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736290 8 124 0.0645161 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 1 N - - AK308144 His164Asp H164D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CHRNA9 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10024518 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - KIT Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - UGT2B28 Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array 5 54 0.0925926 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - DSPP Ile131Thr I131T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731009 245 10098 0.0242622 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MEPE Ala391Thr A391T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEPE Asn395Lys N395K not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - MEPE Ser414Ala S414A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - -1 - 2 N - - MEPE Asn449Thr N449T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731017 90 10758 0.00836587 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MEPE Arg481Trp R481W not reviewed Insufficiently evaluated not reviewed unknown Array rs61731015 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - MEPE Gln487His Q487H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731016 91 10758 0.00845882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - HSP90AB3P Cys113Arg C113R not reviewed Insufficiently evaluated not reviewed unknown Array rs60382165 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM13A Arg311Gln R311Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMSL3 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs13151186 107 7522 0.0142249 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - MTTP Lys879Arg K879R not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BANK1 Phe214Val F214V not reviewed Insufficiently evaluated not reviewed unknown Array rs28485258 78 10752 0.00725446 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - LARP7 Thr338Ile T338I not reviewed Insufficiently evaluated not reviewed unknown Array 25 10512 0.00237823 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 3 - 0 N - - AK308309 Thr116Ile T116I not reviewed Insufficiently evaluated not reviewed unknown Array rs71627763 22 66 0.333333 13 0 22 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NUDT6 Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 9 9558 0.000941619 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 7 Y 0 N - - AK095554 Ile84Phe I84F not reviewed Insufficiently evaluated not reviewed unknown Array rs11938800 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK095554 Asp46Asn D46N not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - HHIP Arg635Ser R635S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 3 - 2 N - - TTC29 Lys255Arg K255R not reviewed Insufficiently evaluated not reviewed unknown Array rs36060598 229 9438 0.0242636 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AK096995 His8Asn H8N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRBA Arg609Trp R609W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SH3D19 Arg435His R435H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM160A1 Gln754Lys Q754K not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - -2 - 2 N - - PET112L Gly172Val G172V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 8 Y 2 N - - KIAA0922 Ser176Leu S176L not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - GK Asp470Asn D470N not reviewed Insufficiently evaluated not reviewed unknown Array rs10016586 15 106 0.141509 15 0 15 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 1 N - - CPE Asn296Ser N296S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - SH3RF1 Ser280Phe S280F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR17 Val271Leu V271L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.238 - - 0 - 1 N - - SORBS2 Leu523Ile L523I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736043 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP4V2 Arg443Gln R443Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72646291 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 0 - 2 N - - FAT1 Ala467Ser A467S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10062 0.00109322 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - BC150558 Glu72Lys E72K not reviewed Insufficiently evaluated not reviewed unknown Array rs6869310 5 102 0.0490196 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC150558 Gln65Arg Q65R not reviewed Insufficiently evaluated not reviewed unknown Array rs6898538 5 82 0.0609756 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC150558 Ser45Leu S45L not reviewed Insufficiently evaluated not reviewed unknown Array rs6872202 13 118 0.110169 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIAA0947 Lys1131Glu K1131E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - KIAA0947 Arg1349Cys R1349C not reviewed Insufficiently evaluated not reviewed unknown Array rs61736161 166 10040 0.0165339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 8 Y 0 N - - NSUN2 Arg8Trp R8W not reviewed Insufficiently evaluated not reviewed unknown Array 103 5730 0.0179756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FASTKD3 Asn93Ser N93S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SEMA5A Ser293Asn S293N not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - TAS2R1 Gly214Arg G214R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - ROPN1L Leu219Ser L219S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 6 Y 0 N - - TTC23L Lys195Thr K195T not reviewed Insufficiently evaluated not reviewed unknown Array 102 9626 0.0105963 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - FYB Val434Phe V434F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9730 0.000102774 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DAB2 Arg296Cys R296C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SLC38A9 Arg335His R335H not reviewed Insufficiently evaluated not reviewed unknown Array rs35800744 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD55 Arg594Gln R594Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34879141 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.178 - - 0 - 0 N - - MAST4 Arg1939Ser R1939S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10294 0.00621721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAST4 Tyr2190Cys Y2190C not reviewed Insufficiently evaluated not reviewed unknown Array 65 10314 0.00630211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTF2H2B Leu236Val L236V not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BDP1 Ala125Val A125V not reviewed Insufficiently evaluated not reviewed unknown Array rs9687593 136 9800 0.0138776 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF366 Leu582Gln L582Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10738 0.00139691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.598 - - 5 Y 1 N - - NM_001080479 Arg1463Gln R1463Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17634853 241 9568 0.0251881 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.269 - - 0 - 1 N - - NM_001080479 Ala1541Gly A1541G not reviewed Insufficiently evaluated not reviewed unknown Array 224 8846 0.0253222 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - NM_001080479 Pro1548Ser P1548S not reviewed Insufficiently evaluated not reviewed unknown Array rs17634865 228 8726 0.0261288 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - JMY His444Arg H444R not reviewed Insufficiently evaluated not reviewed unknown Array rs16876657 11 128 0.0859375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CMYA5 Ala1961Val A1961V not reviewed Insufficiently evaluated not reviewed unknown Array 62 9788 0.00633429 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.263 - - 2 - 1 N - - CMYA5 Arg3826Gln R3826Q not reviewed Insufficiently evaluated not reviewed unknown Array 157 10100 0.0155446 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTX3 Arg213Trp R213W not reviewed Insufficiently evaluated not reviewed unknown Array 24 9644 0.00248859 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.25 - - 7 Y 1 N - - LNPEP Ser183Ala S183A not reviewed Insufficiently evaluated not reviewed unknown Array rs34236898 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFNA5 Asn109Ser N109S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - CAMK4 Gln465Arg Q465R not reviewed Insufficiently evaluated not reviewed unknown Array rs56360861 245 10756 0.022778 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 2 N - - AK002097 Gly157Arg G157R not reviewed Insufficiently evaluated not reviewed unknown Array 3 108 0.0277778 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK002097 Arg266Leu R266L not reviewed Insufficiently evaluated not reviewed unknown Array 5 92 0.0543478 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZRSR1 Arg246Trp R246W not reviewed Insufficiently evaluated not reviewed unknown Array rs61741889 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - YTHDC2 Ala262Thr A262T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP120 Pro369Ser P369S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747983 158 9626 0.0164139 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - P4HA2 Ala76Ser A76S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739875 58 10758 0.00539134 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NME5 Ile165Met I165M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - BRD8 Val1021Leu V1021L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CXXC5 Gly93Ser G93S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10410 9.6061e-05 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC4A9 Ser906Leu S906L not reviewed Insufficiently evaluated not reviewed unknown Array rs6892971 49 9694 0.00505467 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARAP3 Lys1443Asn K1443N not reviewed Insufficiently evaluated not reviewed unknown Array rs61746868 182 10758 0.0169176 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPINK5 Arg932Lys R932K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - HTR4 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733068 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC016647 Arg25Cys R25C not reviewed Insufficiently evaluated not reviewed unknown Array rs10064866 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCDC69 Thr247Met T247M not reviewed Insufficiently evaluated not reviewed unknown Array rs10064866 165 10758 0.0153374 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - FAT2 Leu1614Val L1614V not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAVCR1 Thr174Met T174M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734035 146 10468 0.0139473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK309242 Met28Val M28V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NIPAL4 Asn93Ser N93S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CDHR2 Asp857Asn D857N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FGFR4 Gly769Arg G769R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM153A Gly159Ser G159S not reviewed Insufficiently evaluated not reviewed unknown Array 155 10596 0.0146282 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.082 - - 2 - 0 N - - ZNF354C Asn172Ser N172S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - BC130444 Pro200Ala P200A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - MGAT4B Leu491Phe L491F not reviewed Insufficiently evaluated not reviewed unknown Array rs17854722 106 10754 0.0098568 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF45 Gln264Glu Q264E not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFP62 Arg58His R58H not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUSP22 Leu159Phe L159F not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BPHL Leu259Ser L259S not reviewed Insufficiently evaluated not reviewed unknown Array rs2231370 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM50B Ser229Ala S229A not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - RREB1 Ser1135Ile S1135I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10588 0.00179448 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 5 Y 0 N - - RREB1 Pro1696Leu P1696L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10750 0.000837209 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUTED Asn147Asp N147D not reviewed Insufficiently evaluated not reviewed unknown Array rs34176903 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF105 Phe97Tyr F97Y not reviewed Insufficiently evaluated not reviewed unknown Array 207 10758 0.0192415 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HIVEP1 Leu1404Phe L1404F not reviewed Insufficiently evaluated not reviewed unknown Array 9 10240 0.000878906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRS2 Pro35Ser P35S not reviewed Insufficiently evaluated not reviewed unknown Array rs2295651 263 10756 0.0244515 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.302 - - 3 - 1 N - - KIAA0319 Val774Ala V774A not reviewed Insufficiently evaluated not reviewed unknown Array rs2817191 628 10758 0.0583752 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - KIAA0319 Ser773Gly S773G not reviewed Insufficiently evaluated not reviewed unknown Array rs2744550 628 10758 0.0583752 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KIAA0319 Ile454Thr I454T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 3 - 1 N - - TDP2 Gln249Glu Q249E not reviewed Insufficiently evaluated not reviewed unknown Array rs2294689 1082 10758 0.100576 15 0 17 0 0 - - - - - - - - - - - - - - - - 0.318 - - -2 - 0 N - - FAM65B Val882Ile V882I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741706 48 3234 0.0148423 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM65B Phe382Leu F382L not reviewed Insufficiently evaluated not reviewed unknown Array 43 3234 0.0132962 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM65B Ala329Ser A329S not reviewed Insufficiently evaluated not reviewed unknown Array rs35254980 207 10058 0.0205806 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCGN Val108Met V108M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 0 - 2 N - - SCAND3 Met155Val M155V not reviewed Insufficiently evaluated not reviewed unknown Array rs409029 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - ZFP57 Asp348Val D348V not reviewed Insufficiently evaluated not reviewed unknown Array rs2535241 8 128 0.0625 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ABCF1 Pro599Leu P599L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.068 - - 7 Y 0 N - - KIAA1949 Arg613Gln R613Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 6456 0.00960347 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - HLA-C Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array 255 10742 0.0237386 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.622 - - 1 - 1 N - - HLA-C Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array rs34483041 1279 7498 0.170579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - HLA-C Gly40Ser G40S not reviewed Insufficiently evaluated not reviewed unknown Array rs41551915 390 7476 0.0521669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MICB Ala300Val A300V not reviewed Insufficiently evaluated not reviewed unknown Array rs45470602 28 9936 0.00281803 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SKIV2L Cys877Gly C877G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNXB Gly3189Ser G3189S not reviewed Insufficiently evaluated not reviewed unknown Array rs60738846 73 6616 0.0110339 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - BTNL2 Tyr268His Y268H not reviewed Insufficiently evaluated not reviewed unknown Array 18 7522 0.00239298 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - -1 - 0 N - - BTNL2 Cys50Arg C50R not reviewed Insufficiently evaluated not reviewed unknown Array 18 7522 0.00239298 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - TAP1 Gly307Arg G307R not reviewed Insufficiently evaluated not reviewed unknown Array rs59328013 8 7522 0.00106355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 6 Y 1 N - - AK309797 Glu48Gln E48Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-DPB2 Thr133Met T133M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LYPLA2P1 Leu44Val L44V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIFC1 Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array rs7770412 73 10758 0.00678565 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - C6ORF227 Pro84Ser P84S not reviewed Insufficiently evaluated not reviewed unknown Array rs9469517 21 10528 0.00199468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PACSIN1 Ala334Val A334V not reviewed Insufficiently evaluated not reviewed unknown Array rs41312309 721 10752 0.0670573 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FGD2 Val61Met V61M not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - C6ORF64 Gly164Asp G164D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UNC5CL Ser161Asn S161N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SLC22A7 Arg301Lys R301K not reviewed Insufficiently evaluated not reviewed unknown Array rs70953684 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCC10 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - C6ORF154 Gly268Cys G268C not reviewed Insufficiently evaluated not reviewed unknown Array 119 10750 0.0110698 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF223 Leu175His L175H not reviewed Insufficiently evaluated not reviewed unknown Array 419 10632 0.0394093 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AARS2 Arg471Gln R471Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34530313 109 10758 0.010132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GPR110 Ser96Arg S96R not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL21A1 Ser591Pro S591P not reviewed Insufficiently evaluated not reviewed unknown Array 166 9526 0.017426 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1009 Asp1065Asn D1065N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - KIAA1009 Glu348Gln E348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16874323 470 10732 0.0437943 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - ZNF292 Ser897Leu S897L not reviewed Insufficiently evaluated not reviewed unknown Array 107 9788 0.0109318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASCC3 Asp1035His D1035H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - LIN28B Ser7Ile S7I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF112 Gln90Lys Q90K not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD164 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICAL1 Val863Ala V863A not reviewed Insufficiently evaluated not reviewed unknown Array rs35531850 50 10756 0.00464857 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - AK124171 Gly318Arg G318R not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK124171 Asp279Asn D279N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FIG4 Thr270Ala T270A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729092 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.846 - Y 1 - 2 N - - TUBE1 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - C6ORF204 Asp253Asn D253N not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF204 Asp166Val D166V not reviewed Insufficiently evaluated not reviewed unknown Array rs9489444 344 10758 0.0319762 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK225233 Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744508 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - THEMIS Glu170Gly E170G not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - LAMA2 Arg1450Gln R1450Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - VNN3 Arg18Cys R18C not reviewed Insufficiently evaluated not reviewed unknown Array rs45439105 68 4586 0.0148277 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ALDH8A1 Ser120Ala S120A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - FAM54A Pro216Ala P216A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - ECT2L Val217Met V217M not reviewed Insufficiently evaluated not reviewed unknown Array 146 9760 0.014959 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - TXLNB Asn97Ser N97S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - GPR126 Ile147Asn I147N not reviewed Insufficiently evaluated not reviewed unknown Array 232 9748 0.0237998 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAT2 Arg184Gln R184Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - UTRN Arg1842Lys R1842K not reviewed Insufficiently evaluated not reviewed unknown Array rs61744376 136 10752 0.0126488 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GRM1 Arg285Lys R285K not reviewed Insufficiently evaluated not reviewed unknown Array rs7760248 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.221 - - -3 - 1 N - - ZC3H12D Arg491Cys R491C not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - ZC3H12D Pro74Leu P74L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - PLEKHG1 Ala188Gly A188G not reviewed Insufficiently evaluated not reviewed unknown Array rs61745400 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.67 - - 1 - 1 N - - MTHFD1L Asp375Gly D375G not reviewed Insufficiently evaluated not reviewed unknown Array rs61754784 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - AKAP12 Ala1449Thr A1449T not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.583 - - 1 - 1 N - - TULP4 Thr924Ser T924S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RSPH3 His473Pro H473P not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - TAGAP Gly542Asp G542D not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAGAP Gly346Asp G346D not reviewed Insufficiently evaluated not reviewed unknown Array rs35263580 112 10758 0.0104109 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.481 - - 4 Y 1 N - - LPA Gly1823Val G1823V not reviewed Insufficiently evaluated not reviewed unknown Array 378 10758 0.0351366 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF118 Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array rs35713301 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTLL2 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array rs6929383 64 10672 0.005997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF25 Leu286Val L286V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - WDR27 Pro500Leu P500L not reviewed Insufficiently evaluated not reviewed unknown Array rs34313252 177 9992 0.0177142 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MICALL2 Pro519Leu P519L not reviewed Insufficiently evaluated not reviewed unknown Array rs4075307 373 10758 0.0346719 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - TMEM184A Ser390GlyGly S390GG not reviewed Insufficiently evaluated not reviewed unknown Array rs3779607 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CARD11 Thr1020Met T1020M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0415 Ala744Thr A744T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10498 0.00533435 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RADIL Gly915Trp G915W not reviewed Insufficiently evaluated not reviewed unknown Array 13 9568 0.00135869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNRC18 Gly2029Val G2029V not reviewed Insufficiently evaluated not reviewed unknown Array 48 6672 0.00719424 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 8 Y 1 N - - EIF2AK1 Trp392Arg W392R not reviewed Insufficiently evaluated not reviewed unknown Array rs61731537 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DAGLB Leu55Phe L55F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - COL28A1 Ala472Pro A472P not reviewed Insufficiently evaluated not reviewed unknown Array rs17167927 535 9410 0.0568544 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - COL28A1 Arg297Leu R297L not reviewed Insufficiently evaluated not reviewed unknown Array 22 9560 0.00230126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.892 - - 6 Y 2 N - - AK027618 Val435Leu V435L not reviewed Insufficiently evaluated not reviewed unknown Array rs73678104 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK027618 Arg430Gly R430G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK027618 Val419Leu V419L not reviewed Insufficiently evaluated not reviewed unknown Array rs73678120 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK027618 Ile417Phe I417F not reviewed Insufficiently evaluated not reviewed unknown Array rs73678122 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK027618 Phe85Leu F85L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHR Asp144His D144H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.386 - - 3 - 1 N - - SNX13 Val570Ile V570I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TWISTNB Glu320Lys E320K not reviewed Insufficiently evaluated not reviewed unknown Array rs61734275 20 10756 0.00185943 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - MACC1 Lys321Gln K321Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34343727 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB5 Ala915Thr A915T not reviewed Insufficiently evaluated not reviewed unknown Array rs17143304 808 10758 0.0751069 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SP4 Ile398Val I398V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK308991 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 85 3234 0.0262832 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STK31 Ala600Thr A600T not reviewed Insufficiently evaluated not reviewed unknown Array rs55796076 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SKAP2 Pro12Leu P12L not reviewed Insufficiently evaluated not reviewed unknown Array 296 10758 0.0275144 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - BC087859 Ala225Val A225V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AOAH Leu415Phe L415F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - EPDR1 Thr309Met T309M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001090027 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 3 116 0.0258621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPC1L1 Arg1094Gln R1094Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF65 Thr9Ile T9I not reviewed Insufficiently evaluated not reviewed unknown Array 115 7820 0.0147059 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L1 Thr2038Ser T2038S not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SUN3 Pro75Leu P75L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10730 0.00475303 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - ABCA13 Ala867Thr A867T not reviewed Insufficiently evaluated not reviewed unknown Array rs73697118 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA13 Asn1978Asp N1978D not reviewed Insufficiently evaluated not reviewed unknown Array rs17661364 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Val4370Leu V4370L not reviewed Insufficiently evaluated not reviewed unknown Array rs73694648 12 126 0.0952381 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDC14C Arg10Pro R10P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDC14C Met237Ile M237I not reviewed Insufficiently evaluated not reviewed unknown Array rs391026 17 52 0.326923 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - COBL His601Tyr H601Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61737866 340 10758 0.0316044 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - AX746636 His19Pro H19P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VOPP1 Ile57Leu I57L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10230 0.00166178 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.788 - - -2 - 1 N - - FKBP9L Asn227Ser N227S not reviewed Insufficiently evaluated not reviewed unknown Array 85 3224 0.0263648 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF107 Glu779GluGlu E779EE not reviewed Insufficiently evaluated not reviewed unknown Array rs4717205 8 122 0.0655738 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SRCRB4D Asp307Tyr D307Y not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - SEMA3C Ala645Gly A645G not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - SEMA3C Ile601Val I601V not reviewed Insufficiently evaluated not reviewed unknown Array rs34020175 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ERVWE1 Asp304Glu D304E not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SAMD9L Ser1420Asn S1420N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - LMTK2 Ser910Ile S910I not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - AGFG2 Pro169Leu P169L not reviewed Insufficiently evaluated not reviewed unknown Array rs741784 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Asp2084Asn D2084N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC3A Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array rs73714242 1036 4586 0.225905 16 0 16 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC12 Ser122Pro S122P not reviewed Insufficiently evaluated not reviewed unknown Array rs58734835 94 3234 0.0290662 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RASA4 Cys731Tyr C731Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1060228 8 12 0.666667 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CDHR3 Ser815Gly S815G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASB15 Gln552Arg Q552R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746459 95 10756 0.00883228 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPA2 Val65Ile V65I not reviewed Insufficiently evaluated not reviewed unknown Array rs61997065 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PODXL Ser241Leu S241L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLXNA4 Ala1356Thr A1356T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - KIAA1549 Gly1822Ser G1822S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9870 0.00344478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1549 Asp884Asn D884N not reviewed Insufficiently evaluated not reviewed unknown Array rs2150283 584 10370 0.0563163 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIAA1549 Gly839Val G839V not reviewed Insufficiently evaluated not reviewed unknown Array rs2354336 576 10448 0.0551302 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - KIAA1549 Ser597Cys S597C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734132 564 9970 0.0565697 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KIAA1549 Asp270Asn D270N not reviewed Insufficiently evaluated not reviewed unknown Array rs61978615 96 10256 0.00936037 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBN2 Ser642Gly S642G not reviewed Insufficiently evaluated not reviewed unknown Array rs61995690 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MGAM His136Arg H136R not reviewed Insufficiently evaluated not reviewed unknown Array 61 10194 0.00598391 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - MGAM Arg729His R729H not reviewed Insufficiently evaluated not reviewed unknown Array 106 10188 0.0104044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.25 - - 1 - 1 N - - MGAM Asn918Lys N918K not reviewed Insufficiently evaluated not reviewed unknown Array 97 9654 0.0100476 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.862 - - 1 - 2 N - - MGAM Arg1206Cys R1206C not reviewed Insufficiently evaluated not reviewed unknown Array 162 9928 0.0163175 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF425 Asp166Val D166V not reviewed Insufficiently evaluated not reviewed unknown Array rs6965052 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.449 - - 8 Y 1 N - - ZNF783 Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array rs61729498 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - REPIN1 Arg452Leu R452L not reviewed Insufficiently evaluated not reviewed unknown Array 15 9310 0.00161117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GIMAP1 Ser89Pro S89P not reviewed Insufficiently evaluated not reviewed unknown Array rs61748272 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NOS3 Arg885Met R885M not reviewed Insufficiently evaluated not reviewed unknown Array rs3918201 130 10756 0.0120863 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - GBX1 Ala194Thr A194T not reviewed Insufficiently evaluated not reviewed unknown Array rs11975799 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - BC040865 Thr61Ile T61I not reviewed Insufficiently evaluated not reviewed unknown Array rs12703159 5 126 0.0396825 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLL3 Ala3723Pro A3723P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRN2 Gly323Arg G323R not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - NCAPG2 Ser705Asn S705N not reviewed Insufficiently evaluated not reviewed unknown Array 62 10066 0.00615935 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - OR4F21 Phe44Leu F44L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10 0.6 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYOM2 Asp348Ala D348A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AB209502 Arg381Lys R381K not reviewed Insufficiently evaluated not reviewed unknown Array rs73657835 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SPAG11B Ile78Met I78M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10414 0.000384098 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RP1L1 Ser1921Arg S1921R not reviewed Insufficiently evaluated not reviewed unknown Array 78 10064 0.0077504 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF74 Gln216His Q216H not reviewed Insufficiently evaluated not reviewed unknown Array 60 9426 0.00636537 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MTMR9 Ser126Cys S126C not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MTMR9 Glu547Asp E547D not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 1 N - - BLK Leu47Val L47V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.18 - - 0 - 0 N - - AX746881 Trp60Arg W60R not reviewed Insufficiently evaluated not reviewed unknown Array rs4294153 14 14 1 6 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PCM1 Glu395Lys E395K not reviewed Insufficiently evaluated not reviewed unknown Array 97 9542 0.0101656 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM160B2 Gly666Arg G666R not reviewed Insufficiently evaluated not reviewed unknown Array rs7822461 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LOXL2 Val712Ile V712I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -4 - 0 N - - NEFM Pro11Leu P11L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPHX2 Glu470Gly E470G not reviewed Insufficiently evaluated not reviewed unknown Array rs68053459 53 10758 0.00492657 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 6 Y 0 N - - FUT10 Gln465Lys Q465K not reviewed Insufficiently evaluated not reviewed unknown Array 255 10758 0.0237033 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF703 Pro422Ala P422A not reviewed Insufficiently evaluated not reviewed unknown Array 4 7070 0.00056577 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 1 N - - BAG4 Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array rs61754115 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - WHSC1L1 Val867Ile V867I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - TACC1 Thr328Ile T328I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - AJ005372 Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747167 Leu93Phe L93F not reviewed Insufficiently evaluated not reviewed unknown Array rs11551686 19 128 0.148438 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MRPL15 Pro192Thr P192T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - RP1 Ala1326Pro A1326P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.205 Y - 2 - 2 N - - TGS1 Glu789Lys E789K not reviewed Insufficiently evaluated not reviewed unknown Array rs28505481 79 10748 0.0073502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CA8 Ser100Leu S100L not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - C8ORF44 Gln131Arg Q131R not reviewed Insufficiently evaluated not reviewed unknown Array rs1909534 260 10758 0.0241681 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF45 Tyr35Cys Y35C not reviewed Insufficiently evaluated not reviewed unknown Array rs61739940 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - JPH1 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 374 10758 0.0347648 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RIPK2 Leu268Val L268V not reviewed Insufficiently evaluated not reviewed unknown Array rs35004667 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - RAD54B Ser83Gly S83G not reviewed Insufficiently evaluated not reviewed unknown Array rs35973866 136 10754 0.0126465 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - TSPYL5 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 46 9830 0.00467955 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - SNX31 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - DCAF13 His78Tyr H78Y not reviewed Insufficiently evaluated not reviewed unknown Array 100 10756 0.00929714 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANXA13 Ala164Thr A164T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM135B Ile845Val I845V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - DENND3 Gln364Arg Q364R not reviewed Insufficiently evaluated not reviewed unknown Array rs11997191 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - BAI1 Ala1507Val A1507V not reviewed Insufficiently evaluated not reviewed unknown Array 161 10056 0.0160103 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.574 - - 2 - 1 N - - TOP1MT Arg241His R241H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - C8ORF73 Pro375Ser P375S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10400 0.005 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAPK15 Asp50Tyr D50Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62639973 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - EPPK1 Thr1815Met T1815M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEC Pro4410Ser P4410S not reviewed Insufficiently evaluated not reviewed unknown Array 8 9996 0.00080032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Pro1436Leu P1436L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPATC1 Glu446Gln E446Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC39A4 Met499Val M499V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10700 0.00411215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIFC2 Gly67Glu G67E not reviewed Insufficiently evaluated not reviewed unknown Array rs35817880 108 9820 0.010998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 6 Y 2 N - - ZNF16 Tyr62Ser Y62S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - KANK1 Ile1216Thr I1216T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DMRT2 Pro96Ser P96S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDM4C Glu206Asp E206D not reviewed Insufficiently evaluated not reviewed unknown Array rs7864351 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - -2 - 1 N - - C9ORF150 Gly30Glu G30E not reviewed Insufficiently evaluated not reviewed unknown Array 31 10722 0.00289125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FREM1 Gly1407Ser G1407S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 2 - 2 N - - C9ORF93 Val74Ala V74A not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAUS6 Tyr336Phe Y336F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IFNA16 IleAla132ThrPro IA132TP not reviewed Insufficiently evaluated not reviewed unknown Array rs28368163 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFNA17 Asn118Asp N118D not reviewed Insufficiently evaluated not reviewed unknown Array rs1062572 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NFX1 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.711 - - 1 - 1 N - - NOL6 Arg992Gln R992Q not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANXA2 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array rs7865060 6 126 0.047619 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTENP1 Gly174Val G174V not reviewed Insufficiently evaluated not reviewed unknown Array rs855465 13 128 0.101562 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FRMPD1 Leu25Val L25V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - FAM75A7 Tyr362Ser Y362S not reviewed Insufficiently evaluated not reviewed unknown Array rs4078895 4 96 0.0416667 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FOXB2 Gly422Cys G422C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9876 0.000202511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - FAM75D1 Ile289Ser I289S not reviewed Insufficiently evaluated not reviewed unknown Array 561 10038 0.0558876 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RASEF Ala521Thr A521T not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 1 - 2 N - - AGTPBP1 Cys1029Phe C1029F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NAA35 Ser273Cys S273C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 3 - 0 N - - ZCCHC6 Ile1305Val I1305V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - -4 - 1 N - - ZCCHC6 Thr188Ile T188I not reviewed Insufficiently evaluated not reviewed unknown Array rs61747122 283 10756 0.0263109 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - C9ORF79 Val409Met V409M not reviewed Insufficiently evaluated not reviewed unknown Array rs34946554 1005 10756 0.0934362 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF79 Pro503Ser P503S not reviewed Insufficiently evaluated not reviewed unknown Array rs75035814 1177 10758 0.109407 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C9ORF79 Lys586Glu K586E not reviewed Insufficiently evaluated not reviewed unknown Array rs35232271 616 10758 0.0572597 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C9ORF79 Gly700Arg G700R not reviewed Insufficiently evaluated not reviewed unknown Array rs34017995 992 10756 0.0922276 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - C9ORF79 Ala736Val A736V not reviewed Insufficiently evaluated not reviewed unknown Array rs34791830 998 10758 0.0927682 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - S1PR3 Glu16Gln E16Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SEMA4D Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.532 - - -1 - 1 N - - FAM22G Ala352Val A352V not reviewed Insufficiently evaluated not reviewed unknown Array 69 9734 0.00708856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - OR13C3 Met229Val M229V not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - OR13C2 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 1 - 0 N - - ZFP37 Leu175Ile L175I not reviewed Insufficiently evaluated not reviewed unknown Array rs35299543 74 10750 0.00688372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COL27A1 Arg349Cys R349C not reviewed Insufficiently evaluated not reviewed unknown Array rs34973417 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - CDK5RAP2 Arg1607Ser R1607S not reviewed Insufficiently evaluated not reviewed unknown Array rs16909747 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - C5 Gly933Val G933V not reviewed Insufficiently evaluated not reviewed unknown Array rs41309902 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - OR1J1 Gln23Pro Q23P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.885 - - 4 Y 2 N - - OR5C1 Arg174His R174H not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX31 Arg687Gln R687Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34246652 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - AK8 Lys476Asn K476N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - GBGT1 Pro60Ser P60S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - ABO Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array rs8176696 218 10058 0.0216743 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAMDC4 Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - NDOR1 Val153Ile V153I not reviewed Insufficiently evaluated not reviewed unknown Array 97 10406 0.00932155 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NDOR1 Gln251Glu Q251E not reviewed Insufficiently evaluated not reviewed unknown Array 111 10754 0.0103217 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - -2 - 1 N - - EXD3 Arg717Cys R717C not reviewed Insufficiently evaluated not reviewed unknown Array rs56750318 666 10430 0.0638543 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - EXD3 Val336Met V336M not reviewed Insufficiently evaluated not reviewed unknown Array 237 9202 0.0257553 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PNPLA7 Pro1273Ser P1273S not reviewed Insufficiently evaluated not reviewed unknown Array 94 10750 0.00874419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC018860 Glu146Lys E146K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CRLF2 Val244Met V244M not reviewed Insufficiently evaluated not reviewed unknown Array 717 9650 0.0743005 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DHRSX Val178Met V178M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 0 - 2 N - - VCX3B Lys15Thr K15T not reviewed Insufficiently evaluated not reviewed unknown Array rs5934423 157 5730 0.0273996 5 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TXLNG Arg509Ser R509S not reviewed Insufficiently evaluated not reviewed unknown Array rs34744750 113 8761 0.0128981 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - MAGEB18 Pro49Leu P49L not reviewed Insufficiently evaluated not reviewed unknown Array 47 8759 0.00536591 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.069 - - 7 Y 0 N - - SMEK3P Phe335Leu F335L not reviewed Insufficiently evaluated not reviewed unknown Array rs10521938 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMEK3P Gln143Glu Q143E not reviewed Insufficiently evaluated not reviewed unknown Array rs10521939 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - FAM47C Thr265Ala T265A not reviewed Insufficiently evaluated not reviewed unknown Array 10 8759 0.00114168 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.264 - - 1 - 1 N - - FAM47C Thr817Ile T817I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744986 8 8759 0.000913346 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 2 N - - ATP6AP2 Ala290Pro A290P not reviewed Insufficiently evaluated not reviewed unknown Array rs35798522 194 8759 0.0221486 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 1 N - - CXORF36 Trp16Cys W16C not reviewed Insufficiently evaluated not reviewed unknown Array rs34191819 52 8753 0.00594082 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAGED1 Val57Ile V57I not reviewed Insufficiently evaluated not reviewed unknown Array 54 8761 0.00616368 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CR591764 Gly105Ala G105A not reviewed Insufficiently evaluated not reviewed unknown Array rs61744955 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUP62CL Phe54Leu F54L not reviewed Insufficiently evaluated not reviewed unknown Array rs16987290 79 8761 0.00901723 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - ACTRT1 Ser345Thr S345T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745544 141 8761 0.0160941 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.982 - - -2 - 2 N - - ACTRT1 Arg313Ser R313S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741364 141 8761 0.0160941 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MAP7D3 Lys427Glu K427E not reviewed Insufficiently evaluated not reviewed unknown Array 34 7920 0.00429293 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GPR112 Ser2701Leu S2701L not reviewed Insufficiently evaluated not reviewed unknown Array 40 8761 0.00456569 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GABRE Ala371Thr A371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - PNMA6A Glu383Asp E383D not reviewed Insufficiently evaluated not reviewed unknown Array 1 83 0.0120482 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MIIP Arg19Shift R19Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL9A2 Val526Met V526M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10754 0.000929886 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 0 - 2 N - - LEPRE1 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 8 Y 3 N - - UROD Gly318Arg G318R not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.05 Y - 6 Y 1 N - - CTBS Leu127Shift L127Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WDR63 Arg15Shift R15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Thr3352Arg T3352R not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.831 Y Y 3 - 3 N - - FLG Gly2960Ser G2960S not reviewed Insufficiently evaluated not reviewed unknown Array rs61690342 241 8336 0.0289107 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Leu2923Arg L2923R not reviewed Insufficiently evaluated not reviewed unknown Array 150 10318 0.0145377 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Gly2917Val G2917V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10406 0.0149914 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG Gln1408Lys Q1408K not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Arg1140Gln R1140Q not reviewed Insufficiently evaluated not reviewed unknown Array 174 10750 0.016186 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FLG Glu953Gln E953Q not reviewed Insufficiently evaluated not reviewed unknown Array 452 10758 0.0420152 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Gly691Glu G691E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FLG Glu498Asp E498D not reviewed Insufficiently evaluated not reviewed unknown Array rs13376095 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.075 Y Y -2 - 2 N - - FLG Gly419Ser G419S not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 2 - 4 N - - FLG Pro95Leu P95L not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 7 Y 4 N - - FLG Asp50Gly D50G not reviewed Insufficiently evaluated not reviewed unknown Array 173 10718 0.0161411 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.955 Y Y 4 Y 4 N - - LCE4A Cys3Stop C3X not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CR598521 Arg32Stop R32X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HMCN1 Leu2551Ser L2551S not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 1 N - - CR621662 Trp150Stop W150X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USH2A Glu1994Lys E1994K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - AGT Ala193Thr A193T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - OR2G6 Lys295Shift K295Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RET Gly446Arg G446R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 6 Y 2 N - - CDH23 Val473Met V473M not reviewed Insufficiently evaluated not reviewed unknown Array rs62622410 148 10500 0.0140952 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.462 Y Y 0 - 3 N - - CDH23 Ile2196Asn I2196N not reviewed Insufficiently evaluated not reviewed unknown Array 47 10660 0.004409 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - OPN4 Ser473Shift S473Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LDB3 Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array rs45512506 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MYBPC3 Gly507Arg G507R not reviewed Insufficiently evaluated not reviewed unknown Array rs35736435 11 10634 0.00103442 1 0 1 2 2 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - OR5L2 Cys97Shift C97Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR5T3 Ile183Shift I183Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR8U8 Ser210Shift S210Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF72 Thr250Shift T250Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DHCR7 Ile9Phe I9F not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 2 - 2 N - - MAML2 His452Shift H452Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 88 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAML2 Gln451Shift Q451Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR8D4 Cys105Shift C105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRK2 Arg1483Stop R1483X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - KRT1 TyrGlySerGlyGlySerSerTyrGly525Del YGSGGSSYG525Del not reviewed Insufficiently evaluated not reviewed unknown Array rs58193503 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CEP290 Leu906Trp L906W not reviewed Insufficiently evaluated not reviewed unknown Array rs7970228 362 9468 0.0382341 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y 5 Y 2 N - - GNPTAB Thr1066Met T1066M not reviewed Insufficiently evaluated not reviewed unknown Array rs34083392 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y 2 - 4 N - - ATP12A Asp391Shift D391Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP12A Thr393Shift T393Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP12A Thr395Shift T395Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SUCLA2 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array rs61756204 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - OR4Q3 Asn138Shift N138Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JUB Pro49Shift P49Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TGM1 Arg607Cys R607C not reviewed Insufficiently evaluated not reviewed unknown Array rs2229464 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.483 Y Y 8 Y 3 N - - MGAT2 Pro77Ser P77S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10712 0.00130694 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 3 - 2 N - - TTC8 Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KCNK13 Val391Shift V391Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SERPINA13 Pro134Shift P134Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SERPINA13 Val299Shift V299Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC016033 Arg102Stop R102X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OCA2 Arg573Cys R573C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10742 9.3092e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - OCA2 Pro198Leu P198L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 7 Y 4 N - - FMN1 Ser522Leu S522L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738535 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.022 Y Y 6 Y 2 N - - SPTBN5 Met1505Shift M1505Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLA2G4E Ala39Shift A39Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs28736629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC28A2 Phe355Ser F355S not reviewed Insufficiently evaluated not reviewed unknown Array rs17215633 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CEP152 Val1404Shift V1404Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USP50 Tyr311Shift Y311Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADPGK Pro93Shift P93Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 104 0.0288462 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BLM Arg591Gln R591Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28385012 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 2 N - - PDIA2 Asn493Shift N493Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs45571033 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MSLNL Val148Shift V148Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3835219 1 128 0.0078125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSC2 Ser1774Thr S1774T not reviewed Insufficiently evaluated not reviewed unknown Array rs9209 110 10756 0.0102269 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PKD1 Val1943Ile V1943I not reviewed Insufficiently evaluated not reviewed unknown Array 351 10138 0.0346222 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.129 Y Y -4 - 2 N - - MEFV Gly196Trp G196W not reviewed Insufficiently evaluated not reviewed unknown Array 27 9388 0.00287601 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 7 Y 2 N - - ZNF720 Arg505Stop R505X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRRC29 Trp6Stop W6X not reviewed Insufficiently evaluated not reviewed unknown Array 52 10512 0.00494673 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACD Arg48Shift R48Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HYDIN Ile1771Shift I1771Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF469 Asp2073Shift D2073Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG7 Arg294His R294H not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.655 Y Y 1 - 3 N - - BC160930 Gly60Shift G60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 34 0.0294118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR1A2 Leu44Shift L44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALOX12B Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array rs8077661 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 2 - 2 N - - MYO15A Tyr2399Cys Y2399C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MYO15A Leu3167Pro L3167P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - NPEPPS Arg231Stop R231X not reviewed Insufficiently evaluated not reviewed unknown Array rs11544247 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP2-2 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MTMR4 Leu307Shift L307Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEX19 Trp147Shift W147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTR Val142Ile V142I not reviewed Insufficiently evaluated not reviewed unknown Array rs28933980 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.845 Y Y -4 - 3 N - - FUT3 Val270Met V270M not reviewed Insufficiently evaluated not reviewed unknown Array 140 10556 0.0132626 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.988 Y Y 0 - 4 N - - FUT3 Asp162Asn D162N not reviewed Insufficiently evaluated not reviewed unknown Array rs28362463 507 10758 0.0471277 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 Y Y -1 - 4 N - - FUT3 Gly5Ser G5S not reviewed Insufficiently evaluated not reviewed unknown Array rs28362458 500 10758 0.046477 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.565 Y Y 2 - 3 N - - OR7G3 Arg220Stop R220X not reviewed Insufficiently evaluated not reviewed unknown Array rs61751875 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CR601007 Asp207Shift D207Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRX Met673Val M673V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735531 383 10758 0.0356014 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 0 - 2 N - - ETFB Trp6TrpLeuTrp W6WLW not reviewed Insufficiently evaluated not reviewed unknown Array rs61361626 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - ZNF83 Trp336Stop W336X not reviewed Insufficiently evaluated not reviewed unknown Array rs17855778 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LPIN1 Ser286Del S286Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - APOB Pro554Leu P554L not reviewed Insufficiently evaluated not reviewed unknown Array rs12714214 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - HADHA Arg27Cys R27C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.513 Y - 8 Y 2 N - - OTOF Gly1364Val G1364V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - OTOF Glu801Leu E801L not reviewed Insufficiently evaluated not reviewed unknown Array rs61739883 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - DYSF Arg1254Trp R1254W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.84 Y Y 7 Y 3 N - - NEB Asn4325Ser N4325S not reviewed Insufficiently evaluated not reviewed unknown Array rs16830236 110 10026 0.0109715 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile26235Val I26235V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Ala19262Val A19262V not reviewed Insufficiently evaluated not reviewed unknown Array rs55948748 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CPS1 Lys1229Asn K1229N not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.942 Y Y 1 - 4 N - - COL4A3 Ala506Thr A506T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9710 0.000411946 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - C20ORF96 Gln263Shift Q263Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FER1L4 Gln708Stop Q708X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NM_001008735 Tyr16Stop Y16X not reviewed Insufficiently evaluated not reviewed unknown Array rs6015012 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DIDO1 Ala1698Shift A1698Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMPRSS3 Stop455Arg X455R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - DGCR2 Ser510Shift S510Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HPS4 Ala232Val A232V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - AK098727 Phe253Shift F253Shift not reviewed Insufficiently evaluated not reviewed unknown Array 8 124 0.0645161 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RANGAP1 Leu237Shift L237Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 4 Y 4 N - - MST1R Gln690Stop Q690X not reviewed Insufficiently evaluated not reviewed unknown Array rs61734381 15 10758 0.00139431 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NM_018029 Arg84Shift R84Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3832186 16 128 0.125 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GBE1 Ser378Arg S378R not reviewed Insufficiently evaluated not reviewed unknown Array rs36099971 11 9684 0.00113589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y 3 - 2 N - - GBE1 Pro40Thr P40T not reviewed Insufficiently evaluated not reviewed unknown Array rs35196441 48 10094 0.0047553 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 4 Y 2 N - - TXNRD3IT1 Gln56Shift Q56Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57404214 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCOLCE2 Arg387Stop R387X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PTTG2 His185Shift H185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UGT2B15 Asp85Tyr D85Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1902023 8 102 0.0784314 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HERC6 Ala59Shift A59Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11409162 26 54 0.481481 11 0 19 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HERC6 Arg674Shift R674Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADH4 Ala275Shift A275Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C4ORF51 Phe105Shift F105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TDO2 Phe400Shift F400Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NIPBL Ser261Ala S261A not reviewed Insufficiently evaluated not reviewed unknown Array rs16903425 190 10758 0.0176613 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.14 Y Y -1 - 2 N - - SREK1 Glu396Shift E396Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR98 Phe4677Leu F4677L not reviewed Insufficiently evaluated not reviewed unknown Array rs62000408 319 9400 0.0339362 6 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GPR98 Asn4885Ser N4885S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731030 77 9612 0.00801082 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN2 Ile2281Phe I2281F not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TIGD6 Gly64Shift G64Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs33910807 1 128 0.0078125 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DSP Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66469215 11 114 0.0964912 9 0 9 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - MOCS1 Gly152Asp G152D not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - VEGFA Gly78Stop G78X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10 0.1 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PKHD1 Phe2417Leu F2417L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PKHD1 Pro677Ala P677A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Asn1915Shift N1915Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SYNE1 Met740Ile M740I not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -1 - 2 N - - SLC22A2 Arg400Cys R400C not reviewed Insufficiently evaluated not reviewed unknown Array rs8177516 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.81 - - 8 Y 1 N - - DGKB Glu390Shift E390Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HOXA10 Pro105Ser P105S not reviewed Insufficiently evaluated not reviewed unknown Array rs34720764 2 62 0.0322581 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.679 Y Y 3 - 3 N - - DQ587659 Gly71Shift G71Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GARS Arg388Gln R388Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17159287 68 9822 0.00692323 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - COBL Ser793Shift S793Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRIT1 Ile79Val I79V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -4 - 2 N - - KLRG2 Gly296Shift G296Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF783 Gln252Stop Q252X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CNGB3 Arg604Stop R604X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - DPYS Arg503Shift R503Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - TG Gly2061Arg G2061R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 3 N - - JRK Trp463Shift W463Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72543654 24 54 0.444444 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RECQL4 Gly1113Arg G1113R not reviewed Insufficiently evaluated not reviewed unknown Array rs35101495 23 10436 0.00220391 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - RECQL4 Ala1045Thr A1045T not reviewed Insufficiently evaluated not reviewed unknown Array rs35348691 31 10212 0.00303564 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RECQL4 Arg1004Trp R1004W not reviewed Insufficiently evaluated not reviewed unknown Array rs36023964 9 10434 0.000862564 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - VCP Ser171Asn S171N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - FANCG Arg485Gln R485Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - WNK2 Glu2098Shift E2098Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - XPA Leu252Val L252V not reviewed Insufficiently evaluated not reviewed unknown Array rs3176750 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MAPKAP1 Met193Shift M193Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ENG Val504Met V504M not reviewed Insufficiently evaluated not reviewed unknown Array rs116330805 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 0 - 4 N - - ENG Thr5Met T5M not reviewed Insufficiently evaluated not reviewed unknown Array rs35400405 515 10714 0.0480679 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 2 - 2 N - - PPP2R4 Val305Shift V305Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - QRFP Leu74Shift L74Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DPP7 Pro488Shift P488Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CR593643 Ser310Shift S310Shift not reviewed Insufficiently evaluated not reviewed unknown Array 8 112 0.0714286 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC093994 Arg75Shift R75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DMD Ala608Val A608V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - RPGR Gln184His Q184H not reviewed Insufficiently evaluated not reviewed unknown Array rs5963403 234 8759 0.0267154 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NYX Thr258Met T258M not reviewed Insufficiently evaluated not reviewed unknown Array 47 8490 0.00553592 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.037 Y Y 2 - 2 N - - IDS Thr309Ala T309A not reviewed Insufficiently evaluated not reviewed unknown Array 43 8761 0.00490812 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - OPN1LW Ala233Ser A233S not reviewed Insufficiently evaluated not reviewed unknown Array 3 76 0.0394737 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NOC2L Tyr253Phe Y253F not reviewed Insufficiently evaluated not reviewed unknown Array rs62639963 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - PLEKHN1 Ser333Pro S333P not reviewed Insufficiently evaluated not reviewed unknown Array 117 10634 0.0110024 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHN1 Arg362His R362H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732689 137 10582 0.0129465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF170 Gly5Ser G5S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744472 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCNN1D Pro488Leu P488L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - BC073150 Arg73Ser R73S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATAD3C Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATAD3B Val270Ile V270I not reviewed Insufficiently evaluated not reviewed unknown Array 147 10728 0.0137025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - -4 - 1 N - - PLCH2 Val1334Leu V1334L not reviewed Insufficiently evaluated not reviewed unknown Array 208 8526 0.024396 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM16 Pro659Leu P659L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - ESPN Ala402Thr A402T not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAMTA1 Arg976Lys R976K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741616 81 10758 0.00752928 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - TMEM201 Thr44Met T44M not reviewed Insufficiently evaluated not reviewed unknown Array 280 10756 0.026032 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MASP2 His157Arg H157R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10754 0.00706714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF167 Arg702Lys R702K not reviewed Insufficiently evaluated not reviewed unknown Array rs45445997 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HNRNPCL1 Pro253Leu P253L not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HNRNPCL1 Ala248Val A248V not reviewed Insufficiently evaluated not reviewed unknown Array 2 82 0.0243902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HNRNPCL1 Leu148Ile L148I not reviewed Insufficiently evaluated not reviewed unknown Array rs2359484 11 22 0.5 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PRAMEF2 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array 451 10742 0.0419847 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - CASP9 Ala220Glu A220E not reviewed Insufficiently evaluated not reviewed unknown Array 3 104 0.0288462 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.725 - - 3 - 1 N - - CROCC Thr1072Met T1072M not reviewed Insufficiently evaluated not reviewed unknown Array rs6679197 4 68 0.0588235 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 1 N - - CROCC Arg1097Pro R1097P not reviewed Insufficiently evaluated not reviewed unknown Array rs6669627 2 58 0.0344828 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PADI3 Cys318Tyr C318Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35340855 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - PADI3 Ala582Thr A582T not reviewed Insufficiently evaluated not reviewed unknown Array rs34097903 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - ARHGEF10L Thr1123Ile T1123I not reviewed Insufficiently evaluated not reviewed unknown Array rs35043492 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - KLHDC7A Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KLHDC7A Met524Ile M524I not reviewed Insufficiently evaluated not reviewed unknown Array 182 10728 0.016965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLHDC7A Lys748Glu K748E not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PQLC2 Glu160Lys E160K not reviewed Insufficiently evaluated not reviewed unknown Array 180 10754 0.016738 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - NBPF3 Glu86Lys E86K not reviewed Insufficiently evaluated not reviewed unknown Array rs6691547 318 10758 0.0295594 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - HSPG2 Gln1294Lys Q1294K not reviewed Insufficiently evaluated not reviewed unknown Array 5 104 0.0480769 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - EPHA8 Arg707Cys R707C not reviewed Insufficiently evaluated not reviewed unknown Array rs62642537 175 10758 0.016267 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.729 - - 8 Y 1 N - - MYOM3 Glu988Lys E988K not reviewed Insufficiently evaluated not reviewed unknown Array rs34121526 96 10228 0.009386 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - RHCE Met167Arg M167R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF683 Arg35Gln R35Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GPN2 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - C1ORF172 Pro67Leu P67L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL16A1 Arg418Gln R418Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6699645 39 10154 0.00384085 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SPOCD1 Leu249Val L249V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSMD2 Gln308Lys Q308K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - -2 - 1 N - - ZMYM1 Thr421Ile T421I not reviewed Insufficiently evaluated not reviewed unknown Array 134 9738 0.0137605 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP7D1 Gly346Arg G346R not reviewed Insufficiently evaluated not reviewed unknown Array 61 7168 0.00851004 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.257 - - 6 Y 1 N - - GNL2 Arg682Gln R682Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - UTP11L Asn184Ser N184S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RIMS3 Pro185Ala P185A not reviewed Insufficiently evaluated not reviewed unknown Array rs561024 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - CCDC30 Ile49Met I49M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729294 83 10754 0.00771806 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.307 - - -1 - 1 N - - PTCH2 Glu493Lys E493K not reviewed Insufficiently evaluated not reviewed unknown Array rs11573581 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - ELAVL4 Gly138Ser G138S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - ZFYVE9 Tyr287Cys Y287C not reviewed Insufficiently evaluated not reviewed unknown Array rs9803965 104 10756 0.00966902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ORC1 Val190Met V190M not reviewed Insufficiently evaluated not reviewed unknown Array rs3087477 282 10758 0.026213 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC1A7 Thr526Ile T526I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF177 Cys343Tyr C343Y not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCSK9 Asp432Asn D432N not reviewed Insufficiently evaluated not reviewed unknown Array rs72646515 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.498 Y - -1 - 2 N - - INADL Gln599His Q599H not reviewed Insufficiently evaluated not reviewed unknown Array rs1286812 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - -1 - 2 N - - EFCAB7 Phe27Ile F27I not reviewed Insufficiently evaluated not reviewed unknown Array rs17125106 281 10758 0.0261201 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - CACHD1 Gln57His Q57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFI44L Glu35Gly E35G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNASE2B Tyr91His Y91H not reviewed Insufficiently evaluated not reviewed unknown Array rs72943980 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNASE2B Cys317Tyr C317Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYDE2 Ile484Met I484M not reviewed Insufficiently evaluated not reviewed unknown Array rs12090608 198 9518 0.0208027 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL24A1 Thr328Lys T328K not reviewed Insufficiently evaluated not reviewed unknown Array rs56046090 260 9776 0.0265957 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - GBP7 Arg291Trp R291W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KIAA1107 Asn585Tyr N585Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7523552 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMED5 Met200Thr M200T not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - F3 Thr36Ala T36A not reviewed Insufficiently evaluated not reviewed unknown Array rs3917604 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC44A3 Cys545Arg C545R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AX747691 Gly2Ala G2A not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_014839 Gln2Lys Q2K not reviewed Insufficiently evaluated not reviewed unknown Array rs712896 281 9646 0.0291312 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - AGL Leu895Val L895V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - AGL Ser962Cys S962C not reviewed Insufficiently evaluated not reviewed unknown Array rs34714252 192 10756 0.0178505 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.45 Y - 3 - 2 N - - SASS6 Arg612His R612H not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - GSTM4 ArgVal211LysMet RV211KM not reviewed Insufficiently evaluated not reviewed unknown Array rs2229054 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN22 Ser543Gly S543G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD58 Ser30Tyr S30Y not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.863 - - 5 Y 2 N - - CD101 Tyr651Asp Y651D not reviewed Insufficiently evaluated not reviewed unknown Array rs34882009 208 10758 0.0193344 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.589 - - 7 Y 1 N - - TTF2 Ser28Asn S28N not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - WARS2 Leu360Pro L360P not reviewed Insufficiently evaluated not reviewed unknown Array rs17023101 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - ANKRD35 Leu613Met L613M not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - NUDT17 Gly233Arg G233R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDIA3P Pro6Leu P6L not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDIA3P Gly29Arg G29R not reviewed Insufficiently evaluated not reviewed unknown Array rs72708525 6 120 0.05 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDIA3P Met105Ile M105I not reviewed Insufficiently evaluated not reviewed unknown Array rs72708526 7 122 0.057377 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PDIA3P Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array rs72708527 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDIA3P Val224Glu V224E not reviewed Insufficiently evaluated not reviewed unknown Array rs17159909 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PDIA3P Met284Val M284V not reviewed Insufficiently evaluated not reviewed unknown Array rs62623395 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PDIA3P Arg344His R344H not reviewed Insufficiently evaluated not reviewed unknown Array rs62623392 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ACP6 Met402Val M402V not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - ACP6 Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - TCHH Ala686Gly A686G not reviewed Insufficiently evaluated not reviewed unknown Array 39 10218 0.00381679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR HisArg2748GlnGln HR2748QQ not reviewed Insufficiently evaluated not reviewed unknown Array 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Glu808Asp E808D not reviewed Insufficiently evaluated not reviewed unknown Array 378 10758 0.0351366 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KPRP Cys113Arg C113R not reviewed Insufficiently evaluated not reviewed unknown Array rs16834457 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SPRR2F Ala20Val A20V not reviewed Insufficiently evaluated not reviewed unknown Array 597 10752 0.0555246 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - GATAD2B Pro226Ala P226A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - CR598521 Thr23Asn T23N not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - YY1AP1 Pro541Leu P541L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NES Lys830Arg K830R not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.36 - - -3 - 1 N - - OR10K1 Asn172Ser N172S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - SH2D1B Ile36Thr I36T not reviewed Insufficiently evaluated not reviewed unknown Array rs35688243 181 10758 0.0168247 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ADCY10 Cys1510Trp C1510W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DCAF6 Thr587Ile T587I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745202 256 10758 0.0237962 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF129 Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array 39 9670 0.00403309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF129 Leu481Val L481V not reviewed Insufficiently evaluated not reviewed unknown Array 167 9642 0.0173201 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FMO1 Ile303Thr I303T not reviewed Insufficiently evaluated not reviewed unknown Array rs28360418 71 10758 0.00659974 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.128 - - 3 - 0 N - - PRRC2C Pro935Leu P935L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF9 Ser785Gly S785G not reviewed Insufficiently evaluated not reviewed unknown Array 56 10684 0.00524148 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CENPL Ile117Phe I117F not reviewed Insufficiently evaluated not reviewed unknown Array rs12086855 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNR Ser302Asn S302N not reviewed Insufficiently evaluated not reviewed unknown Array rs35736986 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAPPA2 Ser1018Leu S1018L not reviewed Insufficiently evaluated not reviewed unknown Array 99 10420 0.00950096 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NPHS2 Ala61Val A61V not reviewed Insufficiently evaluated not reviewed unknown Array 61 10282 0.0059327 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 2 - 1 N - - ZNF648 Phe167Leu F167L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - HMCN1 Ile2930Thr I2930T not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.218 Y - 3 - 2 N - - HMCN1 Ile3133Val I3133V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.397 Y - -4 - 2 N - - PRG4 ThrProLysGluProAlaProThr478Del TPKEPAPT478Del not reviewed Insufficiently evaluated not reviewed unknown Array 9 110 0.0818182 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 0 N - - CFHR1 Leu290Ser L290S not reviewed Insufficiently evaluated not reviewed unknown Array 4 9972 0.000401123 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CFHR1 Ala296Val A296V not reviewed Insufficiently evaluated not reviewed unknown Array rs16840561 3 104 0.0288462 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF14 Ala1099Thr A1099T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MFSD4 Gly462Ser G462S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - IKBKE Ala371Thr A371T not reviewed Insufficiently evaluated not reviewed unknown Array rs17021877 296 10758 0.0275144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF116 Phe514Ser F514S not reviewed Insufficiently evaluated not reviewed unknown Array rs11799966 155 10758 0.0144079 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CR1 Arg2476Gln R2476Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 9876 0.00283515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR1L Ala395Ser A395S not reviewed Insufficiently evaluated not reviewed unknown Array 101 9648 0.0104685 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - CR1L His431Tyr H431Y not reviewed Insufficiently evaluated not reviewed unknown Array 166 9880 0.0168016 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -1 - 2 N - - DISP1 Thr441Met T441M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - LEFTY1 Glu279Lys E279K not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PARP1 Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array rs1805409 49 10758 0.00455475 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRSS38 Arg159His R159H not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - OBSCN Leu2164Val L2164V not reviewed Insufficiently evaluated not reviewed unknown Array 67 10196 0.0065712 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - SIPA1L2 Asn878Ser N878S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 0 - 0 N - - ERO1LB Arg386His R386H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - EXO1 Val76Ile V76I not reviewed Insufficiently evaluated not reviewed unknown Array rs4149864 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - C1ORF101 Ile442Val I442V not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AHCTF1 Ile1312Val I1312V not reviewed Insufficiently evaluated not reviewed unknown Array rs41305967 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF669 Leu5Pro L5P not reviewed Insufficiently evaluated not reviewed unknown Array rs61730462 154 10754 0.0143203 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR2W5 Asp4Asn D4N not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR2W5 Ile158Asn I158N not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - OR2T34 His109Tyr H109Y not reviewed Insufficiently evaluated not reviewed unknown Array rs946770 97 10650 0.00910798 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ITGA8 Trp156Arg W156R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TRDMT1 Ile60Val I60V not reviewed Insufficiently evaluated not reviewed unknown Array rs35597944 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PIP4K2A Leu327Met L327M not reviewed Insufficiently evaluated not reviewed unknown Array rs2230470 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PTCHD3 Gly291Ser G291S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - KIAA1462 Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10362 0.00395676 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - CREM Lys282Arg K282R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF33B His356Arg H356R not reviewed Insufficiently evaluated not reviewed unknown Array rs7914982 229 10758 0.0212865 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR13A1 Gly113Arg G113R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - MARCH8 Leu269Trp L269W not reviewed Insufficiently evaluated not reviewed unknown Array rs2291429 14 100 0.14 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GPRIN2 Arg446Cys R446C not reviewed Insufficiently evaluated not reviewed unknown Array 207 10178 0.020338 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - ZNF488 Ala65Gly A65G not reviewed Insufficiently evaluated not reviewed unknown Array 59 10746 0.00549041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FRMPD2 Arg277Gln R277Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - JMJD1C Ala1053Pro A1053P not reviewed Insufficiently evaluated not reviewed unknown Array 3 9792 0.000306372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RUFY2 Asp12Asn D12N not reviewed Insufficiently evaluated not reviewed unknown Array 19 10046 0.0018913 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STOX1 Thr395Ala T395A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - STOX1 Asn905His N905H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS14 Pro951Leu P951L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10734 0.000558971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF27 Arg80Gln R80Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC5B Ala516Thr A516T not reviewed Insufficiently evaluated not reviewed unknown Array rs10509332 478 10756 0.0444403 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PSAP Leu6Phe L6F not reviewed Insufficiently evaluated not reviewed unknown Array 21 9250 0.00227027 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - 0 - 1 N - - ZMYND17 Ser113Asn S113N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - KCNMA1 Ala780Thr A780T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDHR1 Arg162Ser R162S not reviewed Insufficiently evaluated not reviewed unknown Array rs74145715 368 10758 0.0342071 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.657 - - 3 - 1 N - - CDHR1 Ala243Val A243V not reviewed Insufficiently evaluated not reviewed unknown Array rs7086200 372 10758 0.0345789 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 0 N - - LRIT1 Thr308Met T308M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10692 0.00420875 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - RGR Gly88Ser G88S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - STAMBPL1 Ala210Thr A210T not reviewed Insufficiently evaluated not reviewed unknown Array rs9988723 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFIT1B Leu188Pro L188P not reviewed Insufficiently evaluated not reviewed unknown Array rs7072728 171 10758 0.0158951 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - ANKRD1 Val107Leu V107L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGFBP3 Leu17Gly L17G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SFXN2 Met49Leu M49L not reviewed Insufficiently evaluated not reviewed unknown Array rs35280942 135 10758 0.0125488 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - ITPRIP Trp227Leu W227L not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.853 - - 5 Y 2 N - - ACSL5 Thr542Ala T542A not reviewed Insufficiently evaluated not reviewed unknown Array rs12254915 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TDRD1 Ser1066Asn S1066N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10742 0.00195494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFAP1L2 Ser559Thr S559T not reviewed Insufficiently evaluated not reviewed unknown Array rs62641717 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - PNLIPRP3 Ser158Phe S158F not reviewed Insufficiently evaluated not reviewed unknown Array rs61729301 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - EIF3A Arg803Lys R803K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BTBD16 Glu231Lys E231K not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - GPR26 Arg168Pro R168P not reviewed Insufficiently evaluated not reviewed unknown Array 1 40 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - NPS Asn8Ser N8S not reviewed Insufficiently evaluated not reviewed unknown Array 26 9810 0.00265036 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - C10ORF92 Asp572Asn D572N not reviewed Insufficiently evaluated not reviewed unknown Array rs61733298 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR123 Arg651Gly R651G not reviewed Insufficiently evaluated not reviewed unknown Array 50 7820 0.00639386 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VENTX Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array 48 9794 0.00490096 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM8 Gly501Asp G501D not reviewed Insufficiently evaluated not reviewed unknown Array 17 10748 0.00158169 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAOX Val80Ile V80I not reviewed Insufficiently evaluated not reviewed unknown Array 113 10738 0.0105234 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYCE1 Gln208Glu Q208E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - B4GALNT4 Gln71Arg Q71R not reviewed Insufficiently evaluated not reviewed unknown Array 292 8702 0.0335555 5 0 7 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - PKP3 Tyr789Phe Y789F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10716 0.00139978 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - -4 - 0 N - - PHRF1 Gly1209Arg G1209R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.574 - - 6 Y 1 N - - CDHR5 Arg182His R182H not reviewed Insufficiently evaluated not reviewed unknown Array 57 10756 0.00529937 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC25A22 Asp51Asn D51N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10730 0.00205033 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - MUC6 Thr1393Arg T1393R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10536 0.000854214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - MUC2 Asn2590Thr N2590T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Pro4073Ala P4073A not reviewed Insufficiently evaluated not reviewed unknown Array 4 44 0.0909091 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRPM5 Val1119Met V1119M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10604 0.000565824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSBPL5 Arg740Cys R740C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10702 0.000934404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - ART1 Ser97Arg S97R not reviewed Insufficiently evaluated not reviewed unknown Array 83 10756 0.00771662 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR51D1 Ile269Thr I269T not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - OR52R1 Leu143Phe L143F not reviewed Insufficiently evaluated not reviewed unknown Array rs61740077 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51A4 Asn289Lys N289K not reviewed Insufficiently evaluated not reviewed unknown Array rs73388946 4 96 0.0416667 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - OR51A2 Pro255Ser P255S not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OR52J3 Val39Ala V39A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR51B4 Ala185Thr A185T not reviewed Insufficiently evaluated not reviewed unknown Array rs62000994 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51B4 Ser6Gly S6G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739194 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR51I1 Ser261Phe S261F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737027 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - OR56B1 Leu302Phe L302F not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR52B2 Met252Leu M252L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR52B2 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HPX Tyr327His Y327H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - AB290171 Cys564Arg C564R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AB290171 Val810Ala V810A not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NLRP14 Lys51Arg K51R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.244 - - -3 - 1 N - - C11ORF17 Asn3Thr N3T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10750 0.00493023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASCL3 Cys108Arg C108R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RASSF10 Ser561Gly S561G not reviewed Insufficiently evaluated not reviewed unknown Array 69 9980 0.00691383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE3B Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array 42 9870 0.00425532 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - PDHX Ala437Thr A437T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - COMMD9 Asp137Val D137V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 8 Y 2 N - - ACCS Arg489Cys R489C not reviewed Insufficiently evaluated not reviewed unknown Array 72 10756 0.00669394 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - PTPRJ Asn192Ser N192S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737868 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - OR4X2 Pro175Leu P175L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR4C3 Thr217Met T217M not reviewed Insufficiently evaluated not reviewed unknown Array rs10838874 2 102 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4A16 Leu105Val L105V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - OR8H2 Lys295Glu K295E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - OR8H3 Ser73Asn S73N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732941 152 10752 0.0141369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - OR8K5 Phe68Ser F68S not reviewed Insufficiently evaluated not reviewed unknown Array rs2512938 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.861 - - 5 Y 2 N - - OR5J2 Met136Ile M136I not reviewed Insufficiently evaluated not reviewed unknown Array rs12279899 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - OR5T2 Ser229Phe S229F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - OR5M3 Glu230Lys E230K not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5M1 Thr254Ser T254S not reviewed Insufficiently evaluated not reviewed unknown Array 154 9422 0.0163447 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - OR9I1 Gln261Lys Q261K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - OR5B3 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM111A Ile433Met I433M not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - -1 - 1 N - - ZP1 Pro182Ala P182A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 2 - 2 N - - BC132896 Val73Ile V73I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AHNAK Pro3555Thr P3555T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TUT1 Pro838Leu P838L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - B3GAT3 Arg201Trp R201W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - METTL12 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10028 0.00867571 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.674 - - 1 - 1 N - - C11ORF83 Trp76Gly W76G not reviewed Insufficiently evaluated not reviewed unknown Array 84 10712 0.00784167 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR74 Pro366Leu P366L not reviewed Insufficiently evaluated not reviewed unknown Array 93 9608 0.00967943 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A8 Ala369Val A369V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 2 - 2 N - - CFL1 Val136Leu V136L not reviewed Insufficiently evaluated not reviewed unknown Array rs11550162 167 7704 0.0216771 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIN1 Val269Met V269M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10736 0.00204918 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - BC110365 Leu101Pro L101P not reviewed Insufficiently evaluated not reviewed unknown Array 1 20 0.05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NADSYN1 Met591Ile M591I not reviewed Insufficiently evaluated not reviewed unknown Array rs35007971 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -1 - 2 N - - KRTAP5-9 Arg29Gly R29G not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK131288 Gly108Arg G108R not reviewed Insufficiently evaluated not reviewed unknown Array rs73527742 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - NUMA1 Arg1762His R1762H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - AF289588 Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAAF1 Trp23Cys W23C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GDPD5 Ala310Thr A310T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - UVRAG Arg448Trp R448W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CAPN5 Arg613Trp R613W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.775 - - 7 Y 1 N - - NARS2 Ser264Cys S264C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - FAT3 Ile462Val I462V not reviewed Insufficiently evaluated not reviewed unknown Array rs16917409 318 9926 0.0320371 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HEPHL1 Thr175Ile T175I not reviewed Insufficiently evaluated not reviewed unknown Array 13 9992 0.00130104 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FUT4 Asp516Glu D516E not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ENDOD1 Ser306Phe S306F not reviewed Insufficiently evaluated not reviewed unknown Array rs61734147 11 9598 0.00114607 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.906 - - 5 Y 2 N - - MAML2 Gln665Del Q665Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC82 Arg179Gln R179Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - CNTN5 Glu619Gln E619Q not reviewed Insufficiently evaluated not reviewed unknown Array 56 9596 0.00583576 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - CNTN5 Tyr1065Phe Y1065F not reviewed Insufficiently evaluated not reviewed unknown Array rs1944169 254 9698 0.026191 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CASP5 Val201Leu V201L not reviewed Insufficiently evaluated not reviewed unknown Array rs3181326 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP5 Arg152His R152H not reviewed Insufficiently evaluated not reviewed unknown Array rs3181179 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CASP5 Phe13Leu F13L not reviewed Insufficiently evaluated not reviewed unknown Array rs3181320 13 128 0.101562 11 0 13 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CARD17 Ile42Thr I42T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC35F2 Arg338Cys R338C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10212 0.000391696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.346 - - 8 Y 1 N - - EXPH5 His1686Asn H1686N not reviewed Insufficiently evaluated not reviewed unknown Array rs34026967 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Asn1662Asp N1662D not reviewed Insufficiently evaluated not reviewed unknown Array rs35276439 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXPH5 Thr1636Ser T1636S not reviewed Insufficiently evaluated not reviewed unknown Array rs35267152 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EXPH5 Asn1573Ile N1573I not reviewed Insufficiently evaluated not reviewed unknown Array rs34979772 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EXPH5 Met1147Thr M1147T not reviewed Insufficiently evaluated not reviewed unknown Array rs62000364 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POU2AF1 Thr61Ala T61A not reviewed Insufficiently evaluated not reviewed unknown Array rs35664667 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SIK3 Asp1227Gly D1227G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - AMICA1 Gly62Arg G62R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 6 Y 0 N - - ABCG4 Pro352Leu P352L not reviewed Insufficiently evaluated not reviewed unknown Array rs35060365 230 10758 0.0213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SC5DL Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 1 - 3 N - - SORL1 Arg1207Gln R1207Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - OR10G4 Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11219408 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - OR10G8 Arg121His R121H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - 1 - 1 N - - OR10G7 Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.646 - - 0 - 1 N - - ESAM Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CCDC15 Gly114Ala G114A not reviewed Insufficiently evaluated not reviewed unknown Array rs61521463 25 9698 0.00257785 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PATE3 Gly47Asp G47D not reviewed Insufficiently evaluated not reviewed unknown Array 260 3234 0.0803958 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NFRKB Pro370His P370H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NOP2 Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740944 90 10420 0.00863724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD163L1 Pro4Leu P4L not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAS2R9 Met130Leu M130L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRB1 Gln139Arg Q139R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10620 0.000282485 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GYS2 Arg678Gln R678Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.944 Y - 0 - 3 N - - LRMP Ser144Arg S144R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC91 Gln197Glu Q197E not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -2 - 2 N - - OVCH1 Asn1074Lys N1074K not reviewed Insufficiently evaluated not reviewed unknown Array 62 9480 0.00654008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - H3F3C Gly13Ser G13S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745042 384 10758 0.0356944 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALG10 Val269Ile V269I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10754 0.00557932 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_015899 Glu217Lys E217K not reviewed Insufficiently evaluated not reviewed unknown Array rs61744738 261 10758 0.024261 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.381 - - 0 - 1 N - - OR10AD1 Arg170Cys R170C not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR8S1 Asn5Ser N5S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - CCDC65 Ile183Met I183M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDN Arg10His R10H not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POU6F1 Ala107Thr A107T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT2 Ala517Gly A517G not reviewed Insufficiently evaluated not reviewed unknown Array rs35043606 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITGB7 Val393Leu V393L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 0 N - - HOXC12 Ala278Thr A278T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - HOXC9 Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array rs11829948 102 7688 0.0132674 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - OR6C6 Ser227Phe S227F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 5 Y 0 N - - SILV Glu370Asp E370D not reviewed Insufficiently evaluated not reviewed unknown Array rs17118154 285 10758 0.0264919 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.33 - Y -2 - 2 N - - SLC39A5 Ser3Pro S3P not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP5B Asp76Val D76V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.122 - - 8 Y 0 N - - NACA Pro1510Leu P1510L not reviewed Insufficiently evaluated not reviewed unknown Array 25 7774 0.00321585 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LLPH Lys20Met K20M not reviewed Insufficiently evaluated not reviewed unknown Array rs1179916 805 10752 0.0748698 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 1 N - - HELB Arg487His R487H not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BEST3 Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array 75 9966 0.00752559 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PPP1R12A Thr548Ala T548A not reviewed Insufficiently evaluated not reviewed unknown Array rs61743758 51 9330 0.00546624 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 1 - 0 N - - C12ORF26 Thr38Ser T38S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRIQ1 Glu363Lys E363K not reviewed Insufficiently evaluated not reviewed unknown Array 17 10672 0.00159295 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VEZT Arg574His R574H not reviewed Insufficiently evaluated not reviewed unknown Array 25 9520 0.00262605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 2 N - - VEZT Asn649Asp N649D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - -1 - 0 N - - UHRF1BP1L Thr1005Ile T1005I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10744 0.00288533 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 3 - 1 N - - SLC17A8 Lys545Del K545Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASCL4 Glu90Gln E90Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.807 - - -2 - 1 N - - SELPLG Thr254Ala T254A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SSH1 Ser994Arg S994R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739302 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - SVOP Ser107Asn S107N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT81 Leu222Val L222V not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - RAD9B Ile317Thr I317T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOS1 Ser153Leu S153L not reviewed Insufficiently evaluated not reviewed unknown Array rs41514244 53 9742 0.00544036 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRRM4 Ala483Ser A483S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC60 Met340Leu M340L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - -3 - 1 N - - PRKAB1 Ala75Thr A75T not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF10 Gly387Arg G387R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC43 Ala218Thr A218T not reviewed Insufficiently evaluated not reviewed unknown Array 150 9820 0.0152749 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OGFOD2 Leu93Val L93V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10144 0.00512618 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPHOSPH9 Ala926Asp A926D not reviewed Insufficiently evaluated not reviewed unknown Array rs1260318 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_001083900 Val773Ile V773I not reviewed Insufficiently evaluated not reviewed unknown Array 11 128 0.0859375 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001083900 Ala2855Thr A2855T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SFSWAP Glu538Gly E538G not reviewed Insufficiently evaluated not reviewed unknown Array rs34744641 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EP400 Val2370Ile V2370I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPTE2 Gly451Ser G451S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CENPJ His96Arg H96R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739263 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.043 - Y 1 - 1 N - - KL His269Gln H269Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10054 0.000397851 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - SOHLH2 Ser203Thr S203T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - CSNK1A1L Asn4Del N4Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NHLRC3 Leu45Arg L45R not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.442 - - 6 Y 1 N - - MRPS31 Glu154Asp E154D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - -2 - 0 N - - AKAP11 Ile345Val I345V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10748 0.00316338 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AKAP11 Ile515Val I515V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10746 0.00195422 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AKAP11 Ile518Val I518V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10740 0.00335195 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - PHF11 Ser330Tyr S330Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62638668 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NEK5 Glu205Gly E205G not reviewed Insufficiently evaluated not reviewed unknown Array rs55693002 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PCDH9 Val665Ile V665I not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGGT2 Lys865Arg K865R not reviewed Insufficiently evaluated not reviewed unknown Array rs35060832 97 10756 0.00901822 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.899 - - -3 - 2 N - - COL4A2 Arg1295Trp R1295W not reviewed Insufficiently evaluated not reviewed unknown Array 3 9618 0.000311915 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - AK055145 Ser58Pro S58P not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ATP11A Val964Met V964M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - F10 Gln30His Q30H not reviewed Insufficiently evaluated not reviewed unknown Array rs5961 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TFDP1 Lys15Arg K15R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - GAS6 Ser231Tyr S231Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10728 0.000186428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 5 Y 1 N - - GAS6 Val347Met V347M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10722 0.00046633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4Q3 Tyr61Phe Y61F not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 2 N - - CCNB1IP1 Phe41Leu F41L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - RAB2B Asn212Thr N212T not reviewed Insufficiently evaluated not reviewed unknown Array rs17106411 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JPH4 Arg313Leu R313L not reviewed Insufficiently evaluated not reviewed unknown Array rs17855702 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - LRRC16B Arg1129Cys R1129C not reviewed Insufficiently evaluated not reviewed unknown Array 178 9130 0.0194962 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - G2E3 Arg232His R232H not reviewed Insufficiently evaluated not reviewed unknown Array rs17096934 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR5A Leu1514Phe L1514F not reviewed Insufficiently evaluated not reviewed unknown Array rs61744641 61 9674 0.00630556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP6 Val1853Ala V1853A not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - BC068095 Leu109Met L109M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NID2 Arg775Gln R775Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10134590 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - C14ORF135 Asp525Asn D525N not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR594591 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MPP5 Arg60Trp R60W not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PLEKHH1 Val866Met V866M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - SMOC1 Arg286Cys R286C not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PAPLN Gln1224Arg Q1224R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR4 Arg517Gln R517Q not reviewed Insufficiently evaluated not reviewed unknown Array 281 10758 0.0261201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - C14ORF166B Val37Leu V37L not reviewed Insufficiently evaluated not reviewed unknown Array 105 10140 0.010355 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALKBH1 Pro357Ser P357S not reviewed Insufficiently evaluated not reviewed unknown Array rs35658256 65 10758 0.00604201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TSHR Thr574Ser T574S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742289 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - GPR68 Phe369Ser F369S not reviewed Insufficiently evaluated not reviewed unknown Array 35 9304 0.00376182 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC88C Gly1921Ser G1921S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741396 52 8736 0.00595238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC88C Arg1659Gln R1659Q not reviewed Insufficiently evaluated not reviewed unknown Array 89 10008 0.00889289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - COX8C Pro38Ser P38S not reviewed Insufficiently evaluated not reviewed unknown Array 271 7168 0.0378069 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OTUB2 Arg116Cys R116C not reviewed Insufficiently evaluated not reviewed unknown Array rs73348145 7 128 0.0546875 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - SERPINA12 Val304Ile V304I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CLMN Val489Phe V489F not reviewed Insufficiently evaluated not reviewed unknown Array 204 10758 0.0189626 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - C14ORF49 Ser892Phe S892F not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATG2B Pro477Leu P477L not reviewed Insufficiently evaluated not reviewed unknown Array 196 9560 0.0205021 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR616805 Asp195Asn D195N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAGE Pro248Ser P248S not reviewed Insufficiently evaluated not reviewed unknown Array rs34299975 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAGE Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array rs34114580 69 10756 0.00641502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C14ORF153 Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array rs2274267 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TDRD9 Ala1313Val A1313V not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - ASPG Ala416Val A416V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10202 0.00215644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF180 Arg72Gln R72Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743131 110 10730 0.0102516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK2 Pro3526His P3526H not reviewed Insufficiently evaluated not reviewed unknown Array 140 9812 0.0142682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - AHNAK2 Leu2326Pro L2326P not reviewed Insufficiently evaluated not reviewed unknown Array 18 10240 0.00175781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Ala2313Thr A2313T not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - AHNAK2 Asp2308Asn D2308N not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - AHNAK2 Ser2305Thr S2305T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -2 - 0 N - - AHNAK2 Met2304Leu M2304L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10208 0.000391849 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AHNAK2 Lys2083Glu K2083E not reviewed Insufficiently evaluated not reviewed unknown Array 648 7852 0.0825267 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 0 N - - AHNAK2 Met1830Ile M1830I not reviewed Insufficiently evaluated not reviewed unknown Array 64 9740 0.00657084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - AHNAK2 Ser1506Leu S1506L not reviewed Insufficiently evaluated not reviewed unknown Array rs2819437 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - AHNAK2 Ser1341Leu S1341L not reviewed Insufficiently evaluated not reviewed unknown Array rs2894636 25 92 0.271739 18 0 18 0 0 - - - - - - - - - - - - - - - - 0.146 - - 6 Y 0 N - - AHNAK2 Ala1095Asp A1095D not reviewed Insufficiently evaluated not reviewed unknown Array 1080 9642 0.11201 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AHNAK2 Leu1032Val L1032V not reviewed Insufficiently evaluated not reviewed unknown Array 7 9998 0.00070014 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF80 Met41Thr M41T not reviewed Insufficiently evaluated not reviewed unknown Array 5 108 0.0462963 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGHG1 Asp29Glu D29E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAM6 Ile226Val I226V not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4N4 Lys90Asn K90N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - OR4N4 Ile92Met I92M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - CR619482 Leu108Pro L108P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYFIP1 Ala385Thr A385T not reviewed Insufficiently evaluated not reviewed unknown Array 166 10756 0.0154332 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYFIP1 Arg961His R961H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - NIPA2 Lys210Arg K210R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - -3 - 0 N - - HERC2P3 Met898Val M898V not reviewed Insufficiently evaluated not reviewed unknown Array rs28718154 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGEL2 Ser295Gly S295G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10682 0.00439993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RYR3 Arg336Gln R336Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61748999 6 9692 0.000619067 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PAK6 Pro320Ser P320S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 3 - 2 N - - NUSAP1 Thr328Ile T328I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 3 - 2 N - - MGA Gln2022Arg Q2022R not reviewed Insufficiently evaluated not reviewed unknown Array rs61757234 8 128 0.0625 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MGA Ile2138Val I2138V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - JMJD7-PLA2G4B Ala28Gly A28G not reviewed Insufficiently evaluated not reviewed unknown Array rs7174710 215 10758 0.0199851 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTBN5 Met1450Val M1450V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746225 611 9950 0.061407 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PLA2G4E Ala664Thr A664T not reviewed Insufficiently evaluated not reviewed unknown Array rs8030775 79 10490 0.00753098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4E Pro297Ala P297A not reviewed Insufficiently evaluated not reviewed unknown Array 172 9268 0.0185585 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFAP1 Ile93Val I93V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FRMD5 Arg409Gln R409Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - C15ORF33 Arg439Ile R439I not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM7 Ser1500Del S1500Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NEDD4 Ile413Val I413V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCNB2 Ile395Thr I395T not reviewed Insufficiently evaluated not reviewed unknown Array rs28383563 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLN2 Val1877Ile V1877I not reviewed Insufficiently evaluated not reviewed unknown Array rs7182971 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HERC1 Ile4394Val I4394V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228516 105 10180 0.0103143 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HERC1 Gly1411Val G1411V not reviewed Insufficiently evaluated not reviewed unknown Array rs36089909 58 10170 0.00570305 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - PLEKHO2 Glu249Gly E249G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - IGDCC4 Arg936His R936H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DENND4A Arg1148His R1148H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9658 0.000207082 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.717 - - 1 - 1 N - - DIS3L Met778Ile M778I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARID3B Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10738 0.000279381 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CSPG4 Arg619Trp R619W not reviewed Insufficiently evaluated not reviewed unknown Array 256 10626 0.0240918 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.787 - - 7 Y 1 N - - CSPG4 Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10726 0.00223755 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 7 Y 1 N - - CSPG4 Glu345Gly E345G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10714 9.3335e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHRNB4 Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ADAMTS7 Thr1562Ile T1562I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10536 0.000474563 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS7 Ser1316Thr S1316T not reviewed Insufficiently evaluated not reviewed unknown Array 351 9404 0.0373245 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAMTS7 Ala546Thr A546T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HOMER2 Arg219His R219H not reviewed Insufficiently evaluated not reviewed unknown Array rs7175005 340 10630 0.0319849 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.534 - - 1 - 1 N - - ALPK3 Gln928Arg Q928R not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.24 - - 0 - 1 N - - ALPK3 Glu1013Lys E1013K not reviewed Insufficiently evaluated not reviewed unknown Array rs35633849 212 10752 0.0197173 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - MRPS11 Gln51His Q51H not reviewed Insufficiently evaluated not reviewed unknown Array rs16941907 260 10750 0.024186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - ACAN Gln523Glu Q523E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACAN Thr1502Ala T1502A not reviewed Insufficiently evaluated not reviewed unknown Array rs28407189 6 128 0.046875 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HAPLN3 Thr262Pro T262P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UNC45A Thr53Met T53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10738 9.3127e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.277 - - 2 - 1 N - - RGMA Glu299Val E299V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10472 0.00248281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_001040615 Ala331Val A331V not reviewed Insufficiently evaluated not reviewed unknown Array rs34967129 285 10758 0.0264919 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - MRPL28 Arg252Thr R252T not reviewed Insufficiently evaluated not reviewed unknown Array 745 10758 0.0692508 10 0 12 0 0 - - - - - - - - - - - - - - - - 0.302 - - 3 - 0 N - - BC156598 Arg41Cys R41C not reviewed Insufficiently evaluated not reviewed unknown Array rs13331152 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C16ORF11 Gly502Ser G502S not reviewed Insufficiently evaluated not reviewed unknown Array rs74459225 416 9604 0.0433153 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NHLRC4 Ala96Gly A96G not reviewed Insufficiently evaluated not reviewed unknown Array 99 9848 0.0100528 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MSLNL His831Arg H831R not reviewed Insufficiently evaluated not reviewed unknown Array 356 9888 0.0360032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHTF18 Arg804Cys R804C not reviewed Insufficiently evaluated not reviewed unknown Array rs35316821 171 10460 0.016348 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.959 - - 8 Y 2 N - - PRR25 Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMF1 Ala427Asp A427D not reviewed Insufficiently evaluated not reviewed unknown Array 86 10574 0.00813316 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CACNA1H Arg1474Trp R1474W not reviewed Insufficiently evaluated not reviewed unknown Array rs57105517 19 10040 0.00189243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 7 Y 0 N - - C16ORF42 Arg276Cys R276C not reviewed Insufficiently evaluated not reviewed unknown Array rs61738797 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HS3ST6 Arg266Cys R266C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740582 246 10736 0.0229136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF598 Lys106Asn K106N not reviewed Insufficiently evaluated not reviewed unknown Array 23 10400 0.00221154 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NTHL1 Pro58Leu P58L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - SRRM2 Arg605Trp R605W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLYWCH1 Asn496Tyr N496Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLYWCH1 Arg500Trp R500W not reviewed Insufficiently evaluated not reviewed unknown Array rs61747745 24 9294 0.00258231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAQR4 Met70Thr M70T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.908 - - 2 - 2 N - - IL32 Ile22Leu I22L not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL32 Arg24Gly R24G not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL32 Tyr26Cys Y26C not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NLRC3 Gly424Asp G424D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10186 0.000392695 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SLX4 Gly1534Ser G1534S not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - SLX4 Ala952Thr A952T not reviewed Insufficiently evaluated not reviewed unknown Array rs59939128 865 10758 0.0804053 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLX4 Thr919Ile T919I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - SLX4 Pro764Ala P764A not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 2 - 0 N - - SLX4 Ala683Thr A683T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.789 - - 1 - 1 N - - SLX4 Pro385Thr P385T not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 1 N - - DNASE1 Arg107Gly R107G not reviewed Insufficiently evaluated not reviewed unknown Array rs8176928 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - C16ORF71 Glu232Lys E232K not reviewed Insufficiently evaluated not reviewed unknown Array rs35002791 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC148245 Val52Ile V52I not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPL Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDILT Ser342Arg S342R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 3 - 1 N - - ANKS4B Lys141Arg K141R not reviewed Insufficiently evaluated not reviewed unknown Array 122 10340 0.0117988 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NM_022097 Arg127Pro R127P not reviewed Insufficiently evaluated not reviewed unknown Array rs35641939 148 10758 0.0137572 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.654 - - 5 Y 1 N - - GTF3C1 Ser2059Leu S2059L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - KIAA0556 Ser70Cys S70C not reviewed Insufficiently evaluated not reviewed unknown Array rs61742780 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.427 - - 3 - 1 N - - ITGAL Arg144His R144H not reviewed Insufficiently evaluated not reviewed unknown Array rs34166708 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - SETD1A Ala755Thr A755T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10238 0.00488377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - ZNF646 Arg1371His R1371H not reviewed Insufficiently evaluated not reviewed unknown Array 131 10756 0.0121792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITGAX Asn211Thr N211T not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ITGAD Gly706Arg G706R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF843 Met38Thr M38T not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NKD1 Thr217Ile T217I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10714 0.0026134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GINS3 Gly53Ala G53A not reviewed Insufficiently evaluated not reviewed unknown Array 51 10754 0.00474242 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FHOD1 Arg991Trp R991W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 7 Y 0 N - - C16ORF48 Arg114His R114H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUS2L Glu454Gln E454Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34202379 81 10756 0.00753068 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PRMT7 Asp114Gly D114G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 4 Y 1 N - - PRMT7 Leu462Val L462V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 1 N - - TMCO7 Arg745Cys R745C not reviewed Insufficiently evaluated not reviewed unknown Array rs61729744 240 10324 0.0232468 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PDPR Val161Ala V161A not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYDIN Ser4384Gly S4384G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYDIN Ala571Gly A571G not reviewed Insufficiently evaluated not reviewed unknown Array 45 10748 0.00418682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - HYDIN Arg163Gln R163Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - ADAT1 Gly211Arg G211R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 6 Y 1 N - - WWOX His205Asn H205N not reviewed Insufficiently evaluated not reviewed unknown Array 55 9860 0.00557809 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - PKD1L2 Lys1218Arg K1218R not reviewed Insufficiently evaluated not reviewed unknown Array 214 10370 0.0206365 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C16ORF55 Val23Ala V23A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPH3AL Pro175Ser P175S not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MYBBP1A Lys638Glu K638E not reviewed Insufficiently evaluated not reviewed unknown Array rs899441 236 10754 0.0219453 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - GPR172B Arg310His R310H not reviewed Insufficiently evaluated not reviewed unknown Array rs9897165 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - 1 - 1 N - - NLRP1 Val939Met V939M not reviewed Insufficiently evaluated not reviewed unknown Array rs61754791 207 10758 0.0192415 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NLRP1 Gly354Asp G354D not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - ALOX15B Ser498Ile S498I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - MFSD6L Thr374Pro T374P not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - DHRS7C Phe202Ser F202S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - GLP2R Glu255Ala E255A not reviewed Insufficiently evaluated not reviewed unknown Array rs61730821 103 10758 0.00957427 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.636 - - 3 - 1 N - - MYH3 Arg1797His R1797H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - TBC1D26 Trp222Arg W222R not reviewed Insufficiently evaluated not reviewed unknown Array 75 10582 0.00708751 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - ZNF624 Arg28Cys R28C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC050323 Glu735Asp E735D not reviewed Insufficiently evaluated not reviewed unknown Array rs61739751 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRRC48 Thr449Met T449M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO15A Arg2812Gln R2812Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TOP3A Thr812Ile T812I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SHMT1 Arg213Trp R213W not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SPAG5 Arg1081His R1081H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - SEZ6 Ala392Thr A392T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737977 62 10062 0.0061618 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.126 - - 1 - 0 N - - SEZ6 Ala204Thr A204T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738539 80 10522 0.00760312 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCL13 Ala5Ser A5S not reviewed Insufficiently evaluated not reviewed unknown Array rs3136677 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -1 - 0 N - - CCL13 Asn29Ser N29S not reviewed Insufficiently evaluated not reviewed unknown Array rs34566308 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - FNDC8 Arg259His R259H not reviewed Insufficiently evaluated not reviewed unknown Array rs34615886 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - SLFN11 Arg291Cys R291C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLFN13 Thr675Ile T675I not reviewed Insufficiently evaluated not reviewed unknown Array rs9896552 229 10758 0.0212865 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - SLFN13 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array 212 10758 0.0197063 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - RASL10B Val34Ile V34I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - GAS2L2 Pro864Leu P864L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10756 0.00539234 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 7 Y 0 N - - TOP2A Ala1515Ser A1515S not reviewed Insufficiently evaluated not reviewed unknown Array rs11540720 395 9582 0.0412231 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.239 - - -1 - 1 N - - TOP2A Gly1386Asp G1386D not reviewed Insufficiently evaluated not reviewed unknown Array rs34300454 404 9714 0.0415895 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT40 Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array 76 10744 0.00707371 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - KRTAP2-2 Arg59Cys R59C not reviewed Insufficiently evaluated not reviewed unknown Array rs12938147 58 1690 0.0343195 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRT33B Pro101Ala P101A not reviewed Insufficiently evaluated not reviewed unknown Array rs9903685 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.488 - - 2 - 1 N - - KRT36 Ser54Leu S54L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRT15 Glu352Lys E352K not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - HAP1 Arg8Trp R8W not reviewed Insufficiently evaluated not reviewed unknown Array 22 9722 0.00226291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - KLHL10 Ile85Thr I85T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9924 0.00110842 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.244 - - 3 - 1 N - - KLHL10 Gln216Pro Q216P not reviewed Insufficiently evaluated not reviewed unknown Array 24 9582 0.0025047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CNP Pro324Leu P324L not reviewed Insufficiently evaluated not reviewed unknown Array rs34044046 10 10106 0.000989511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GHDC Ala433Val A433V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CD300LG Val311Ala V311A not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 2 - 0 N - - CRHR1 Val391Met V391M not reviewed Insufficiently evaluated not reviewed unknown Array rs61732578 24 10734 0.00223589 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC27 His191Pro H191P not reviewed Insufficiently evaluated not reviewed unknown Array rs1064456 16 84 0.190476 14 0 14 0 0 - - - - - - - - - - - - - - - - 0.881 - - 5 Y 1 N - - NPEPPS Met241Thr M241T not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SP2 Thr382Ala T382A not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PRAC Asp40Asn D40N not reviewed Insufficiently evaluated not reviewed unknown Array 44 6172 0.00712897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYCBPAP Met479Val M479V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - ANKFN1 Ile21Lys I21K not reviewed Insufficiently evaluated not reviewed unknown Array 19 10752 0.00176711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COIL Glu121Lys E121K not reviewed Insufficiently evaluated not reviewed unknown Array 114 10756 0.0105987 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - BZRAP1 Pro1546Ser P1546S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732758 178 10752 0.0165551 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - BZRAP1 Leu1490Pro L1490P not reviewed Insufficiently evaluated not reviewed unknown Array 30 10672 0.00281109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 1 N - - RNF43 Gly754Ala G754A not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - TMEM49 Arg105His R105H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GH1 Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array rs2001345 326 10758 0.030303 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ABCA9 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744800 606 10758 0.0563302 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.163 - - 0 - 0 N - - ABCA6 Leu1167Val L1167V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.109 - - 0 - 0 N - - KIF19 Arg372Gln R372Q not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - SLC9A3R1 Glu68Ala E68A not reviewed Insufficiently evaluated not reviewed unknown Array 23 10646 0.00216044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - CDK3 Thr226Ile T226I not reviewed Insufficiently evaluated not reviewed unknown Array rs2069532 54 10758 0.00501952 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - EVPL Arg1105Gln R1105Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK057217 Asn71Asp N71D not reviewed Insufficiently evaluated not reviewed unknown Array rs59989120 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC40 Lys375Gln K375Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734951 48 10282 0.00466835 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - CCDC40 Asp673Asn D673N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10252 0.00243855 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - CCDC40 Glu1117Lys E1117K not reviewed Insufficiently evaluated not reviewed unknown Array 34 10256 0.00331513 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - CCDC40 Ser1142Pro S1142P not reviewed Insufficiently evaluated not reviewed unknown Array 22 9994 0.00220132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - RNF213 Arg358Thr R358T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC38A10 Arg1024Pro R1024P not reviewed Insufficiently evaluated not reviewed unknown Array 70 9852 0.00710516 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM105 Ser107Leu S107L not reviewed Insufficiently evaluated not reviewed unknown Array 290 10756 0.0269617 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.171 - - 6 Y 0 N - - BAHCC1 Thr914Met T914M not reviewed Insufficiently evaluated not reviewed unknown Array 15 9560 0.00156904 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAHCC1 Arg2138Gln R2138Q not reviewed Insufficiently evaluated not reviewed unknown Array 38 9310 0.00408163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC57 Glu237Gln E237Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34543170 212 10018 0.0211619 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HEXDC Arg371His R371H not reviewed Insufficiently evaluated not reviewed unknown Array 24 9762 0.00245851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FN3KRP Gly265Cys G265C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740985 154 10758 0.0143149 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.036 - - 7 Y 0 N - - ZNF750 Thr122Asn T122N not reviewed Insufficiently evaluated not reviewed unknown Array rs35182876 154 10758 0.0143149 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - KIAA0802 Glu420Asp E420D not reviewed Insufficiently evaluated not reviewed unknown Array rs918272 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NDUFV2 Val40Met V40M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10746 0.00428066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 1 N - - RALBP1 Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28552921 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - PSMG2 Thr64Ile T64I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 3 - 0 N - - TAF4B Ala16Ser A16S not reviewed Insufficiently evaluated not reviewed unknown Array 13 6230 0.00208668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSG1 Gly1008Glu G1008E not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.185 - - 6 Y 0 N - - C18ORF34 Asp183Glu D183E not reviewed Insufficiently evaluated not reviewed unknown Array rs35283321 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1632 Leu971Val L971V not reviewed Insufficiently evaluated not reviewed unknown Array 51 9716 0.00524907 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.339 - - 0 - 1 N - - KIAA1632 Ser35Asn S35N not reviewed Insufficiently evaluated not reviewed unknown Array 50 9564 0.00522794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAUS1 His38Arg H38R not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.855 - - 1 - 2 N - - ST8SIA5 Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF54 Lys222Asn K222N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MALT1 Ile641Val I641V not reviewed Insufficiently evaluated not reviewed unknown Array rs35533328 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SERPINBP1 Asn189Thr N189T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DSEL Lys850Arg K850R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GZMM Gly52Arg G52R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PCSK4 Arg280Trp R280W not reviewed Insufficiently evaluated not reviewed unknown Array 49 10724 0.00456919 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.891 - - 7 Y 2 N - - PCSK4 Glu277Lys E277K not reviewed Insufficiently evaluated not reviewed unknown Array 49 10726 0.00456834 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - PCSK4 Glu262Lys E262K not reviewed Insufficiently evaluated not reviewed unknown Array 52 10744 0.00483991 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 1 N - - FAM108A1 Ser60Leu S60L not reviewed Insufficiently evaluated not reviewed unknown Array 113 9298 0.0121532 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF34 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 187 10592 0.0176548 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS9 Ala218Val A218V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK098244 Ser483Asn S483N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TJP3 Leu195Met L195M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ANKRD24 Asp209Asn D209N not reviewed Insufficiently evaluated not reviewed unknown Array rs61744768 134 10372 0.0129194 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.926 - - -1 - 2 N - - ANKRD24 Gly634Glu G634E not reviewed Insufficiently evaluated not reviewed unknown Array rs61742138 117 10318 0.0113394 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLIN4 GlyMet605SerVal GM605SV not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAFB2 Ala756Ser A756S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RANBP3 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array rs10417885 208 10164 0.0204644 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ZNF557 Arg133Gln R133Q not reviewed Insufficiently evaluated not reviewed unknown Array 139 9726 0.0142916 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF18 Pro11Gln P11Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28489511 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGEF18 Gly23Arg G23R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGEF18 Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGEF18 Tyr107Phe Y107F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FCER2 Pro315Leu P315L not reviewed Insufficiently evaluated not reviewed unknown Array rs34694289 112 10754 0.0104147 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBN3 Ser1951Phe S1951F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBN3 Gln1209Arg Q1209R not reviewed Insufficiently evaluated not reviewed unknown Array rs34684510 229 10758 0.0212865 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBN3 Arg413Gln R413Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Met13938Val M13938V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Asp13704Glu D13704E not reviewed Insufficiently evaluated not reviewed unknown Array 270 9828 0.0274725 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC16 Ala5754Thr A5754T not reviewed Insufficiently evaluated not reviewed unknown Array rs1559171 205 10192 0.0201138 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR7G3 Lys2Arg K2R not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - ZNF699 Arg188Gly R188G not reviewed Insufficiently evaluated not reviewed unknown Array 72 9830 0.00732452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - COL5A3 Arg757Gln R757Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7249989 166 10750 0.0154419 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TYK2 Arg197His R197H not reviewed Insufficiently evaluated not reviewed unknown Array rs12720263 97 10758 0.00901654 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - TMED1 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LDLR Gly324Ser G324S not reviewed Insufficiently evaluated not reviewed unknown Array rs72658860 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 2 - 3 N - - ZNF700 Ser68Lys S68K not reviewed Insufficiently evaluated not reviewed unknown Array rs35457778 14 128 0.109375 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF878 Ser288Leu S288L not reviewed Insufficiently evaluated not reviewed unknown Array 476 10732 0.0443533 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC125186 Arg146His R146H not reviewed Insufficiently evaluated not reviewed unknown Array rs10422576 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 2 N - - BC125186 Met584Leu M584L not reviewed Insufficiently evaluated not reviewed unknown Array rs1438694 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - -3 - 1 N - - AK124155 Asn9Lys N9K not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK124155 Leu25Phe L25F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK124155 Ser73Gly S73G not reviewed Insufficiently evaluated not reviewed unknown Array rs60024023 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF788 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array rs10403922 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF788 Trp305Arg W305R not reviewed Insufficiently evaluated not reviewed unknown Array rs59833471 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - AX747991 Arg8Cys R8C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BEST2 Leu397Phe L397F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737519 62 8420 0.00736342 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CC2D1A Ile545Thr I545T not reviewed Insufficiently evaluated not reviewed unknown Array 74 10310 0.0071775 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - RFX1 Gln284Del Q284Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC105 Arg156Leu R156L not reviewed Insufficiently evaluated not reviewed unknown Array 139 9926 0.0140036 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CASP14 Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - 7 Y 1 N - - PGLYRP2 Val457Leu V457L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - NWD1 Glu538Lys E538K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO9B Val2052Ala V2052A not reviewed Insufficiently evaluated not reviewed unknown Array 287 9426 0.0304477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OCEL1 Pro76Arg P76R not reviewed Insufficiently evaluated not reviewed unknown Array 32 8734 0.00366384 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - ANKLE1 Val447Met V447M not reviewed Insufficiently evaluated not reviewed unknown Array rs34112069 178 10758 0.0165458 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE4C Lys182Glu K182E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10178 0.000196502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ZNF98 Gly178Ala G178A not reviewed Insufficiently evaluated not reviewed unknown Array 229 10196 0.0224598 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPSA Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FXYD5 Thr91Ile T91I not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - FXYD5 Val117Ile V117I not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - FAM187B Ala13Thr A13T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - MAG Ser600Leu S600L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 - Y 6 Y 1 N - - SBSN His464Arg H464R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SBSN Ser359Gly S359G not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC025257 Pro121Ser P121S not reviewed Insufficiently evaluated not reviewed unknown Array rs2304177 14 128 0.109375 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C19ORF33 Lys91Del K91Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71821976 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CATSPERG Leu29Pro L29P not reviewed Insufficiently evaluated not reviewed unknown Array rs2302182 415 3234 0.128324 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - EIF3K Val138Ile V138I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.145 - - -4 - 0 N - - PAK4 Asp103Glu D103E not reviewed Insufficiently evaluated not reviewed unknown Array 24 9558 0.00251098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PAK4 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array 57 9138 0.00623769 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.565 - - 7 Y 1 N - - PAF1 Glu111Asp E111D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - FCGBP Lys838Thr K838T not reviewed Insufficiently evaluated not reviewed unknown Array rs34873737 251 10740 0.0233706 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FCGBP Val732Ala V732A not reviewed Insufficiently evaluated not reviewed unknown Array rs34181317 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 2 - 2 N - - PSG3 Asn250Lys N250K not reviewed Insufficiently evaluated not reviewed unknown Array rs1058704 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - XRCC1 Thr304Ala T304A not reviewed Insufficiently evaluated not reviewed unknown Array rs25490 367 10758 0.0341141 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF45 Glu19Lys E19K not reviewed Insufficiently evaluated not reviewed unknown Array rs62640885 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF227 Pro249Ser P249S not reviewed Insufficiently evaluated not reviewed unknown Array 371 10758 0.034486 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.287 - - 3 - 1 N - - ZNF233 Ser350Asn S350N not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.156 - - 0 - 0 N - - BCAM Val381Ile V381I not reviewed Insufficiently evaluated not reviewed unknown Array rs28399626 200 10758 0.0185908 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.012 Y - -4 - 1 N - - ZNF296 Ser58Leu S58L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10446 0.00564809 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FOSB Gly33Ser G33S not reviewed Insufficiently evaluated not reviewed unknown Array rs28381241 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.686 - - 2 - 1 N - - SYMPK Pro1167Leu P1167L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10132 0.00108567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - SYMPK Asn262Ser N262S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - CCDC61 Trp236Arg W236R not reviewed Insufficiently evaluated not reviewed unknown Array 6 9622 0.00062357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF541 Lys237Glu K237E not reviewed Insufficiently evaluated not reviewed unknown Array rs34984302 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC114 Ser431Leu S431L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NTN5 Glu470Del E470Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HRC His290Asp H290D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - SLC17A7 Arg47Gln R47Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 10756 0.00715879 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ALDH16A1 Asn225Lys N225K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10730 9.3196e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - NUP62 Thr187Met T187M not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - SIGLEC11 Leu132Val L132V not reviewed Insufficiently evaluated not reviewed unknown Array 8 126 0.0634921 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYH14 Val1548Ile V1548I not reviewed Insufficiently evaluated not reviewed unknown Array rs680446 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ZNF578 Arg69Cys R69C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF808 Glu879Lys E879K not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF701 Lys255Arg K255R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - -3 - 2 N - - AK056776 Asn229His N229H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF160 Ser288Arg S288R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 3 - 0 N - - ZNF765 Glu78Gly E78G not reviewed Insufficiently evaluated not reviewed unknown Array 309 10736 0.0287817 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF765 Arg260His R260H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB5 Leu561Phe L561F not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAIR2 Phe115Tyr F115Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34429135 677 10758 0.0629299 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - KIR3DX1 Arg67Gly R67G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 0 N - - LILRB1 Arg95Trp R95W not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - BC034929 Arg119Cys R119C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC112197 Ile44Thr I44T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PEG3 Val1392Ile V1392I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - -4 - 0 N - - PEG3 Val839Leu V839L not reviewed Insufficiently evaluated not reviewed unknown Array rs7251798 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ZNF547 Glu111Lys E111K not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF749 His98Tyr H98Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61747534 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF551 Arg646Trp R646W not reviewed Insufficiently evaluated not reviewed unknown Array rs35938383 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF418 Gln130His Q130H not reviewed Insufficiently evaluated not reviewed unknown Array 187 10754 0.0173889 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.687 - - -1 - 1 N - - SNTG2 Gly524Arg G524R not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - NBAS Arg2311His R2311H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HS1BP3 Gly273Arg G273R not reviewed Insufficiently evaluated not reviewed unknown Array rs35589938 266 10758 0.0247258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - C2ORF43 Val11Ala V11A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITSN2 Glu436Asp E436D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADCY8 Ala553Val A553V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCY8 Ile492Val I492V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM179A Arg575Cys R575C not reviewed Insufficiently evaluated not reviewed unknown Array 91 10158 0.00895846 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - FAM179A Ile739Thr I739T not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - C2ORF71 Arg258Ile R258I not reviewed Insufficiently evaluated not reviewed unknown Array 100 10044 0.00995619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF71 Val247Ala V247A not reviewed Insufficiently evaluated not reviewed unknown Array 100 10172 0.00983091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Gln542His Q542H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LTBP1 Asn1005Asp N1005D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HEATR5B Pro652Ala P652A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - GALM Tyr201Cys Y201C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - THUMPD2 Glu158Del E158Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OXER1 Leu372Ile L372I not reviewed Insufficiently evaluated not reviewed unknown Array 129 10756 0.0119933 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.55 - - -2 - 1 N - - AK096196 Trp77Ser W77S not reviewed Insufficiently evaluated not reviewed unknown Array rs72914745 6 128 0.046875 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1841 Gly685Ser G685S not reviewed Insufficiently evaluated not reviewed unknown Array rs13424173 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BMP10 Asn250Lys N250K not reviewed Insufficiently evaluated not reviewed unknown Array rs2231345 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EMX1 Ala43Val A43V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFTPB Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array rs3024809 99 10746 0.00921273 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.239 Y - 1 - 2 N - - TEKT4 Met183Val M183V not reviewed Insufficiently evaluated not reviewed unknown Array 11 66 0.166667 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.818 - - 0 - 0 N - - TEKT4 Arg348Pro R348P not reviewed Insufficiently evaluated not reviewed unknown Array 2 68 0.0294118 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - AFF3 Ser979Cys S979C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHST10 Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array rs35177621 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - TBC1D8 Arg583Trp R583W not reviewed Insufficiently evaluated not reviewed unknown Array 44 10658 0.00412835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TBC1D8 Ala156Val A156V not reviewed Insufficiently evaluated not reviewed unknown Array 271 10388 0.0260878 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL1RL1 Glu483Asp E483D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - IL18R1 Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array rs11465635 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PSD4 Ile658Val I658V not reviewed Insufficiently evaluated not reviewed unknown Array rs45574835 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - NR_003947 Ala83Ser A83S not reviewed Insufficiently evaluated not reviewed unknown Array 3 92 0.0326087 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCTR Met84Thr M84T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001029996 Ala531Thr A531T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR33 Pro574Leu P574L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POTEF Arg546Gly R546G not reviewed Insufficiently evaluated not reviewed unknown Array rs2599820 4 10 0.4 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NR_002826 Ala393Val A393V not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_002826 Pro85Leu P85L not reviewed Insufficiently evaluated not reviewed unknown Array rs11888005 2 76 0.0263158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC74A Val200Ile V200I not reviewed Insufficiently evaluated not reviewed unknown Array 3 56 0.0535714 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.32 - - -4 - 0 N - - YSK4 Asn827His N827H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - THSD7B Glu387Lys E387K not reviewed Insufficiently evaluated not reviewed unknown Array rs13409059 199 9882 0.0201376 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF5C Ala914Thr A914T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PKP4 Arg1123Lys R1123K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TANK Gln113Glu Q113E not reviewed Insufficiently evaluated not reviewed unknown Array 42 10746 0.00390843 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - FAP Thr229Met T229M not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC21B Ile624Val I624V not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCN7A Met1490Thr M1490T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - G6PC2 Leu301Ser L301S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 6 Y 2 N - - LRP2 Ala1901Gly A1901G not reviewed Insufficiently evaluated not reviewed unknown Array rs61995913 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.988 - Y 1 - 3 N - - LRP2 His909Arg H909R not reviewed Insufficiently evaluated not reviewed unknown Array rs36082715 149 10756 0.0138527 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y 1 - 1 N - - LRP2 Val675Ala V675A not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.168 - Y 2 - 1 N - - METTL8 Lys359Glu K359E not reviewed Insufficiently evaluated not reviewed unknown Array 45 3234 0.0139147 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIR1 Asp311Glu D311E not reviewed Insufficiently evaluated not reviewed unknown Array rs73975114 641 10758 0.0595836 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.778 - - -2 - 0 N - - SESTD1 Pro8Thr P8T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754495 79 10754 0.0073461 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.59 - - 4 Y 1 N - - ZNF804A Arg124Lys R124K not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OSGEPL1 Asn27His N27H not reviewed Insufficiently evaluated not reviewed unknown Array 51 9378 0.00543826 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCTD18 Glu9Lys E9K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ALS2CR12 Arg162Leu R162L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCS1L Ser259Thr S259T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -2 - 1 N - - STK36 Asp329Asn D329N not reviewed Insufficiently evaluated not reviewed unknown Array rs34027859 148 10758 0.0137572 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CCDC108 Val672Ile V672I not reviewed Insufficiently evaluated not reviewed unknown Array rs13403802 138 10758 0.0128277 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - FAM134A Ser417Ala S417A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - ABCB6 Arg648Gln R648Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13402964 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - PTPRN Pro327Leu P327L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - RESP18 Val105Leu V105L not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RESP18 Arg42Lys R42K not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SPEG Pro2884Leu P2884L not reviewed Insufficiently evaluated not reviewed unknown Array 183 9972 0.0183514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPEG Val2993Met V2993M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OBSL1 Ala1095Thr A1095T not reviewed Insufficiently evaluated not reviewed unknown Array 25 9958 0.00251054 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALPI Val20Ile V20I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736995 176 10758 0.0163599 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALPI Arg33Leu R33L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732026 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - ALPI Arg144His R144H not reviewed Insufficiently evaluated not reviewed unknown Array rs7559279 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ALPI Thr207Ile T207I not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - SH3BP4 Val962Met V962M not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQCA1 Pro663Arg P663R not reviewed Insufficiently evaluated not reviewed unknown Array rs34285002 66 9466 0.00697232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - LRRFIP1 Asn475Lys N475K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBM44 Ser91Gly S91G not reviewed Insufficiently evaluated not reviewed unknown Array rs73086770 9 128 0.0703125 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.827 - - 2 - 0 N - - PER2 Arg401Cys R401C not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.092 - - 8 Y 0 N - - TRAF3IP1 Glu229Lys E229K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10272 0.000389408 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC132948 Glu38Lys E38K not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR35 Arg56Cys R56C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - SNED1 His1299Arg H1299R not reviewed Insufficiently evaluated not reviewed unknown Array rs6708120 150 10246 0.0146399 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - MTERFD2 Cys307Arg C307R not reviewed Insufficiently evaluated not reviewed unknown Array rs17855698 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.387 - - 8 Y 1 N - - DEFB128 Ile88Thr I88T not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 0 N - - DEFB128 Cys24Ser C24S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - ANGPT4 Gln95Arg Q95R not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - SDCBP2 Arg107Cys R107C not reviewed Insufficiently evaluated not reviewed unknown Array rs35578871 39 10746 0.00362926 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SIRPB2 Thr102Ile T102I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732303 33 7820 0.00421995 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - RASSF2 Gln134Leu Q134L not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 1 N - - AX746654 Arg186Leu R186L not reviewed Insufficiently evaluated not reviewed unknown Array rs73596452 15 128 0.117188 12 0 16 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF16B Leu1101Phe L1101F not reviewed Insufficiently evaluated not reviewed unknown Array rs61738023 343 10758 0.0318832 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF12 Arg344His R344H not reviewed Insufficiently evaluated not reviewed unknown Array 57 9810 0.0058104 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSTL1 Tyr62Phe Y62F not reviewed Insufficiently evaluated not reviewed unknown Array rs16985357 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - CST9 Met82Arg M82R not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF186 Pro366Leu P366L not reviewed Insufficiently evaluated not reviewed unknown Array rs17122711 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLUNC Gln188Lys Q188K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - C20ORF114 Pro113Ser P113S not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NECAB3 Arg191Trp R191W not reviewed Insufficiently evaluated not reviewed unknown Array 48 9174 0.00523218 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - E2F1 Val276Met V276M not reviewed Insufficiently evaluated not reviewed unknown Array rs3213173 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - AHCY Arg49His R49H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.604 - - 1 - 1 N - - NCOA6 Ile1995Val I1995V not reviewed Insufficiently evaluated not reviewed unknown Array rs6060022 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - MYH7B Pro13Ser P13S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10058 0.000795386 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYH7B Lys1881Gln K1881Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10500 0.00542857 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EDEM2 Ile329Thr I329T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - RBM12 Asn572Ser N572S not reviewed Insufficiently evaluated not reviewed unknown Array rs17092928 233 10758 0.0216583 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - BPI Val469Ile V469I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - L3MBTL1 Asp87Val D87V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IFT52 Gln297Arg Q297R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - WISP2 Gly167Glu G167E not reviewed Insufficiently evaluated not reviewed unknown Array rs13339902 286 10714 0.026694 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMG1 Leu100Gln L100Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729393 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.972 - - 5 Y 2 N - - SEMG1 Arg372Leu R372L not reviewed Insufficiently evaluated not reviewed unknown Array rs2233887 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - RBPJL Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35032855 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC2A10 Lys514Arg K514R not reviewed Insufficiently evaluated not reviewed unknown Array rs41283344 714 10758 0.0663692 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 1 N - - SULF2 Arg674His R674H not reviewed Insufficiently evaluated not reviewed unknown Array rs10048853 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - CYP24A1 Arg344His R344H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - STX16 Arg190Gln R190Q not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - C20ORF177 Phe127Val F127V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL20A1 Met1268Ile M1268I not reviewed Insufficiently evaluated not reviewed unknown Array rs73921048 3 126 0.0238095 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001037335 Ala502Thr A502T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741406 72 10684 0.00673905 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001013729 Ala103Pro A103P not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRIP1 Asn326Lys N326K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - TMPRSS15 Gly504Glu G504E not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMPRSS15 His435Arg H435R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735771 78 10748 0.00725716 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.085 - - 1 - 0 N - - LTN1 Gln372His Q372H not reviewed Insufficiently evaluated not reviewed unknown Array rs61748614 10 126 0.0793651 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LTN1 Arg349His R349H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753613 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM3B Gly195Asp G195D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - UMODL1 Asn585Tyr N585Y not reviewed Insufficiently evaluated not reviewed unknown Array 64 10170 0.00629302 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.243 - - 5 Y 1 N - - UBASH3A Met515Leu M515L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PKNOX1 Thr216Ala T216A not reviewed Insufficiently evaluated not reviewed unknown Array rs17115709 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - RRP1 His93Gln H93Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 10022 0.00259429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PWP2 Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10756 0.00669394 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - C21ORF58 Ala313Thr A313T not reviewed Insufficiently evaluated not reviewed unknown Array 42 9932 0.00422875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TUBA8 Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.965 - - 8 Y 2 N - - PRODH Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array 79 4078 0.0193722 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ARVCF Arg34Trp R34W not reviewed Insufficiently evaluated not reviewed unknown Array 55 10698 0.00514115 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RIMBP3 Ala396Glu A396E not reviewed Insufficiently evaluated not reviewed unknown Array rs2845510 12 18 0.666667 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - USP41 Met98Val M98V not reviewed Insufficiently evaluated not reviewed unknown Array 3 110 0.0272727 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP41 Met95Thr M95T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741959 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP41 Tyr56Cys Y56C not reviewed Insufficiently evaluated not reviewed unknown Array rs2542134 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP41 Trp45Arg W45R not reviewed Insufficiently evaluated not reviewed unknown Array rs2542135 5 122 0.0409836 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF74 Val249Met V249M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPIND1 Ser87Asn S87N not reviewed Insufficiently evaluated not reviewed unknown Array rs34324685 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SLC7A4 Asp225Glu D225E not reviewed Insufficiently evaluated not reviewed unknown Array 376 10758 0.0349507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIMBP3B Val1147Leu V1147L not reviewed Insufficiently evaluated not reviewed unknown Array rs468616 16 16 1 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - RIMBP3C Val1147Leu V1147L not reviewed Insufficiently evaluated not reviewed unknown Array rs468616 14 14 1 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CCDC116 Arg299His R299H not reviewed Insufficiently evaluated not reviewed unknown Array rs28488831 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - RTDR1 Val123Ala V123A not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - IGLL1 Thr95Lys T95K not reviewed Insufficiently evaluated not reviewed unknown Array 239 10758 0.022216 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - SGSM1 Leu115Val L115V not reviewed Insufficiently evaluated not reviewed unknown Array rs6004318 127 9952 0.0127613 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SGSM1 Val451Leu V451L not reviewed Insufficiently evaluated not reviewed unknown Array 98 10234 0.00957592 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO18B Ser2155Asn S2155N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - 0 - 1 N - - NEFH Cys227Gly C227G not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NEFH Pro965Leu P965L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTMR3 Ile62Leu I62L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - -2 - 1 N - - PLA2G3 Met484Arg M484R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.813 - - 4 Y 1 N - - PLA2G3 Leu464Phe L464F not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3IP1 Leu15Phe L15F not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - PISD Arg28Gln R28Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35341171 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL5 Glu81Lys E81K not reviewed Insufficiently evaluated not reviewed unknown Array rs5999985 135 10758 0.0125488 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - KCTD17 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPRSS6 Asp552Asn D552N not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -1 - 1 N - - NOL12 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ATF4 Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array rs2228181 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MEI1 Asp1258Tyr D1258Y not reviewed Insufficiently evaluated not reviewed unknown Array 12 10128 0.00118483 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP2D7P1 Lys155Thr K155T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCAT Glu387Asp E387D not reviewed Insufficiently evaluated not reviewed unknown Array 254 10758 0.0236103 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - PRR5-ARHGAP8 Arg344Trp R344W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMC1B Gln397Glu Q397E not reviewed Insufficiently evaluated not reviewed unknown Array 35 9688 0.00361272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TUBGCP6 Asp538Asn D538N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10750 0.00195349 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - PPP6R2 Leu152Gln L152Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SBF1 Gly1273Asp G1273D not reviewed Insufficiently evaluated not reviewed unknown Array 117 10230 0.011437 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 4 Y 0 N - - KLHDC7B Gly417Ser G417S not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EDEM1 Leu590Val L590V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743395 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF32 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX747493 Leu32Val L32V not reviewed Insufficiently evaluated not reviewed unknown Array rs55857749 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TATDN2 Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array 59 10728 0.00549963 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC6A1 Met179Val M179V not reviewed Insufficiently evaluated not reviewed unknown Array rs34299874 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG7 Ala276Val A276V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAPN7 Ile286Val I286V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - METTL6 Thr54Ile T54I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734701 4 9582 0.000417449 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.557 - - 3 - 1 N - - NEK10 Arg103His R103H not reviewed Insufficiently evaluated not reviewed unknown Array 3 7812 0.000384024 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGA4 Asn599Ile N599I not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - LARS2 Glu831Asp E831D not reviewed Insufficiently evaluated not reviewed unknown Array rs9827689 162 10758 0.0150586 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LARS2 Glu868Lys E868K not reviewed Insufficiently evaluated not reviewed unknown Array rs34965084 41 10758 0.00381112 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - CCR5 Val46Met V46M not reviewed Insufficiently evaluated not reviewed unknown Array rs41425744 3 10750 0.000279069 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - PRSS50 Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array rs35866901 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - -4 - 0 N - - PRSS50 Val8Ile V8I not reviewed Insufficiently evaluated not reviewed unknown Array 32 9396 0.0034057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PRSS45 Met226Ile M226I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10418 0.00355155 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBEAL2 Asp368Gly D368G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 4 Y 1 N - - UBA7 Thr905Met T905M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFRD2 Arg438Gln R438Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229648 5 124 0.0403226 4 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - HEMK1 Arg310Gln R310Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - POC1A Gln348His Q348H not reviewed Insufficiently evaluated not reviewed unknown Array rs35898691 424 10758 0.0394125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH12 Ile53Ser I53S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C3ORF67 Arg411Gln R411Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35510108 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS9 Gly598Val G598V not reviewed Insufficiently evaluated not reviewed unknown Array rs33998556 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AX747367 Leu25Phe L25F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM86DP Gly176Arg G176R not reviewed Insufficiently evaluated not reviewed unknown Array 2 40 0.05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM86DP Arg95Cys R95C not reviewed Insufficiently evaluated not reviewed unknown Array rs73842003 6 108 0.0555556 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - FAM86DP Met93Ile M93I not reviewed Insufficiently evaluated not reviewed unknown Array rs7623635 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF717 Lys519Met K519M not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF717 ArgCys517HisHis RC517HH not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MINA Thr412Lys T412K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR5AC2 Val223Met V223M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.847 - - 0 - 1 N - - LNP1 Arg36Cys R36C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10344 0.000290023 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - LNP1 CysHis64ArgLeu CH64RL not reviewed Insufficiently evaluated not reviewed unknown Array 7 112 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ABI3BP Thr512Ile T512I not reviewed Insufficiently evaluated not reviewed unknown Array 103 9418 0.0109365 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - KIAA1524 Asn745Lys N745K not reviewed Insufficiently evaluated not reviewed unknown Array 55 10736 0.00512295 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - PHLDB2 Leu961Pro L961P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC80 Asn413Thr N413T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - CD200R1 Leu254Ile L254I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPICE1 Arg472Gly R472G not reviewed Insufficiently evaluated not reviewed unknown Array rs7614751 149 10758 0.0138502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.883 - - 6 Y 2 N - - GPR156 Tyr393Cys Y393C not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQCB1 Phe142Leu F142L not reviewed Insufficiently evaluated not reviewed unknown Array rs11926958 140 10758 0.0130136 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.998 - - 0 - 2 N - - EAF2 Asp236Glu D236E not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - FAM162A Met149Thr M149T not reviewed Insufficiently evaluated not reviewed unknown Array 20 9664 0.00206954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 2 - 1 N - - PARP9 Pro776Leu P776L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.355 - - 7 Y 1 N - - PARP15 Val617Ile V617I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HSPBAP1 Ile409Val I409V not reviewed Insufficiently evaluated not reviewed unknown Array rs61996313 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HSPBAP1 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.415 - - 1 - 1 N - - MYLK Arg1450Gln R1450Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41366751 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.702 - - 0 - 1 N - - MUC13 Ser268Pro S268P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC37 Arg233Gln R233Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 10742 0.00716812 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - AY358102 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1257 Thr307Ser T307S not reviewed Insufficiently evaluated not reviewed unknown Array 195 9566 0.0203847 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.199 - - -2 - 0 N - - ISY1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - COL6A5 Glu1423Gly E1423G not reviewed Insufficiently evaluated not reviewed unknown Array 30 3234 0.00927644 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - TF Pro110Leu P110L not reviewed Insufficiently evaluated not reviewed unknown Array rs41298985 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - RYK Lys463Arg K463R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10280 0.00749027 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ESYT3 His154Pro H154P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PCOLCE2 Gln278Arg Q278R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC9A9 Val95Ile V95I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CPA3 Met232Leu M232L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.667 - - -3 - 1 N - - FAM194A ValGluGluGlu48Del VEEE48Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM194A Gly9Val G9V not reviewed Insufficiently evaluated not reviewed unknown Array rs16862795 707 10744 0.0658042 9 0 11 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - AK094480 Gly136Ser G136S not reviewed Insufficiently evaluated not reviewed unknown Array rs6767106 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC105690 Glu40Lys E40K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - MCCC1 Lys328Asn K328N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LAMP3 Pro188Ser P188S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 3 - 0 N - - EIF4G1 Arg305Cys R305C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.142 - - 8 Y 0 N - - EHHADH Arg622His R622H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EIF4A2 Asn27Lys N27K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.541 - - 1 - 1 N - - TMEM207 Met38Arg M38R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - MUC4 Thr1487Met T1487M not reviewed Insufficiently evaluated not reviewed unknown Array 36 922 0.0390456 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM175 Val153Met V153M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - KIAA1530 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAN2B2 Ile210Phe I210F not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TBC1D14 Asp469His D469H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - GPR78 Pro167Arg P167R not reviewed Insufficiently evaluated not reviewed unknown Array 140 10452 0.0133946 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - BC113726 Gly15Arg G15R not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK308144 Pro1005Thr P1005T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741415 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.676 - - 4 Y 1 N - - AK308144 Pro897Leu P897L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - AK308144 Leu659Pro L659P not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - TLR1 Val587Gly V587G not reviewed Insufficiently evaluated not reviewed unknown Array rs5743617 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDR19 Arg699Gln R699Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 9806 0.00734244 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - ATP8A1 Tyr626Cys Y626C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - KIAA1211 Gln85Arg Q85R not reviewed Insufficiently evaluated not reviewed unknown Array 109 10038 0.0108587 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF14 Gly154Ala G154A not reviewed Insufficiently evaluated not reviewed unknown Array rs11553076 159 9734 0.0163345 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4ORF14 Gln151Arg Q151R not reviewed Insufficiently evaluated not reviewed unknown Array rs11553075 157 9764 0.0160795 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGT2B10 Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array 143 10728 0.0133296 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UGT2B28 Lys83Glu K83E not reviewed Insufficiently evaluated not reviewed unknown Array 98 10602 0.00924354 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NPFFR2 Val250Ala V250A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733659 102 10758 0.00948132 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - AX794786 Glu60Gln E60Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPEF2 Ile51Leu I51L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - ART3 Gln359Glu Q359E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STBD1 Ser210Pro S210P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - CCDC158 Arg430His R430H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10298 0.000194212 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - 1 - 0 N - - SHROOM3 Met1584Lys M1584K not reviewed Insufficiently evaluated not reviewed unknown Array rs61739943 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.634 - - 4 Y 1 N - - ANXA3 Ile313Thr I313T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MEPE His465Asn H465N not reviewed Insufficiently evaluated not reviewed unknown Array rs61731018 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MMRN1 Asn114Ile N114I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 7 Y 0 N - - FAM190A Ile672Val I672V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743906 11 3234 0.00340136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ADH5 Leu163Ser L163S not reviewed Insufficiently evaluated not reviewed unknown Array rs28730623 99 9728 0.0101768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADH6 Ile114Val I114V not reviewed Insufficiently evaluated not reviewed unknown Array rs28720153 136 10754 0.0126465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.253 - - -4 - 1 N - - C4ORF17 SerGlyMetThrSer157Tyr SGMTS157Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AL832378 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array rs72908744 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NHEDC2 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - NM_001099776 Gly85Ser G85S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP53 Pro969Thr P969T not reviewed Insufficiently evaluated not reviewed unknown Array 25 9798 0.00255154 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - AX746903 Ser139Gly S139G not reviewed Insufficiently evaluated not reviewed unknown Array rs2953291 16 24 0.666667 5 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LARP1B Lys570Asn K570N not reviewed Insufficiently evaluated not reviewed unknown Array rs72924443 54 10758 0.00501952 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - C4ORF49 Val143Leu V143L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10264 0.0024357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGST2 Ala101Val A101V not reviewed Insufficiently evaluated not reviewed unknown Array rs8192111 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - MAML3 Val810Ile V810I not reviewed Insufficiently evaluated not reviewed unknown Array 53 10218 0.00518693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DCHS2 Arg1438Trp R1438W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DCHS2 Thr571Ala T571A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PLRG1 Pro183Ala P183A not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.092 - - 2 - 0 N - - FGB Ile123Val I123V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - TDO2 Met381Leu M381L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C4ORF39 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array 227 10756 0.0211045 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF39 GlnGlnArgSerLeu70Del QQRSL70Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM75 Stop469Leu X469L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C4ORF27 Ile188Val I188V not reviewed Insufficiently evaluated not reviewed unknown Array rs62637696 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ODZ1 Thr1517Ala T1517A not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLDN22 Leu177Pro L177P not reviewed Insufficiently evaluated not reviewed unknown Array rs61734096 268 7820 0.0342711 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.656 - - 7 Y 1 N - - STOX2 His388Arg H388R not reviewed Insufficiently evaluated not reviewed unknown Array 29 9870 0.0029382 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 1 - 1 N - - STOX2 Ser834Gly S834G not reviewed Insufficiently evaluated not reviewed unknown Array 33 10388 0.00317674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - CCDC111 Pro261Ser P261S not reviewed Insufficiently evaluated not reviewed unknown Array rs34772069 74 10756 0.00687988 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.314 - - 3 - 1 N - - KIAA1430 His465Arg H465R not reviewed Insufficiently evaluated not reviewed unknown Array 25 9790 0.00255363 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - AHRR Pro696Ser P696S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743456 41 10118 0.00405218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC12A7 Val831Ile V831I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC12A7 Arg710Cys R710C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - KIAA0947 Gln1597Pro Q1597P not reviewed Insufficiently evaluated not reviewed unknown Array rs10065646 410 9680 0.0423554 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDZD2 Asn1213Asp N1213D not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - -1 - 2 N - - SPEF2 Glu655Gly E655G not reviewed Insufficiently evaluated not reviewed unknown Array rs12332369 216 9624 0.0224439 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - NAIP Val535Met V535M not reviewed Insufficiently evaluated not reviewed unknown Array rs522634 52 52 1 21 0 42 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SPZ1 Ile330Thr I330T not reviewed Insufficiently evaluated not reviewed unknown Array 47 9754 0.00481853 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.902 - - 3 - 2 N - - PAM Phe31Tyr F31Y not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM232 Glu452Lys E452K not reviewed Insufficiently evaluated not reviewed unknown Array rs61734250 34 3234 0.0105133 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM232 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730863 55 3234 0.0170068 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZRSR1 Arg470His R470H not reviewed Insufficiently evaluated not reviewed unknown Array rs17135117 8 126 0.0634921 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - DMXL1 Asp1100Gly D1100G not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 4 Y 1 N - - DMXL1 Glu1985Gln E1985Q not reviewed Insufficiently evaluated not reviewed unknown Array 124 10754 0.0115306 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - -2 - 1 N - - SRFBP1 Asp325Tyr D325Y not reviewed Insufficiently evaluated not reviewed unknown Array 19 9550 0.00198953 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - 7 Y 1 N - - SLC22A5 Pro549Ser P549S not reviewed Insufficiently evaluated not reviewed unknown Array rs11568525 249 10758 0.0231456 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LEAP2 Gly22Asp G22D not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.361 - - 4 Y 1 N - - SLC23A1 Glu8Lys E8K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10752 0.00195312 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - PSD2 Gly363Arg G363R not reviewed Insufficiently evaluated not reviewed unknown Array rs35714177 563 10758 0.0523331 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AX746964 Ser163Asn S163N not reviewed Insufficiently evaluated not reviewed unknown Array rs7714617 3 94 0.0319149 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB8 Leu335Met L335M not reviewed Insufficiently evaluated not reviewed unknown Array rs7700858 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PCDHB10 Arg652Cys R652C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744140 3 116 0.0258621 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.043 - - 8 Y 0 N - - PCDHB12 Gly471Arg G471R not reviewed Insufficiently evaluated not reviewed unknown Array 120 10754 0.0111586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PCDHB13 Val737Glu V737E not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.701 - - 5 Y 1 N - - PCDHB14 Asn487Thr N487T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB15 Ala693Thr A693T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10748 0.00176777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 1 - 2 N - - HMGXB3 Glu186Lys E186K not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDST1 Ala254Thr A254T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC126474 Glu65Asp E65D not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.046 - - -2 - 0 N - - FAT2 Val1457Ile V1457I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743236 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - FAT2 Trp1339Arg W1339R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743254 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - 7 Y 0 N - - FAT2 Leu1295Pro L1295P not reviewed Insufficiently evaluated not reviewed unknown Array rs35640822 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAT2 Pro822Ser P822S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - FAT2 Val69Met V69M not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - GEMIN5 Ala601Val A601V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - FABP6 Leu70His L70H not reviewed Insufficiently evaluated not reviewed unknown Array rs7720149 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HMMR Glu482Ala E482A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - KCNMB1 Arg140Trp R140W not reviewed Insufficiently evaluated not reviewed unknown Array 282 10758 0.026213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DRD1 Pro256Leu P256L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - GPRIN1 Asp465Asn D465N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - -1 - 2 N - - HK3 Arg73Gln R73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61739890 133 10758 0.0123629 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.396 - - 0 - 1 N - - FAM153A Ser156Gly S156G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10540 0.00265655 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 1 N - - AGXT2L2 Val440Leu V440L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF354C Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - BC130444 Ile254Thr I254T not reviewed Insufficiently evaluated not reviewed unknown Array 3 98 0.0306122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC130444 Val183Ile V183I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC130444 Val44Ile V44I not reviewed Insufficiently evaluated not reviewed unknown Array rs4990389 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - TBC1D9B Thr350Ser T350S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10756 0.00660097 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - OR2Y1 Arg233His R233H not reviewed Insufficiently evaluated not reviewed unknown Array rs61736845 189 10758 0.0175683 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - FOXF2 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array rs72667003 244 9872 0.0247164 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRPF4B Lys200Glu K200E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXNDC5 Ala315Val A315V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - TMEM14B Tyr85Del Y85Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GCM2 Met354Val M354V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734278 156 10758 0.0145008 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - NEDD9 Arg415Trp R415W not reviewed Insufficiently evaluated not reviewed unknown Array rs61755989 232 10758 0.0215653 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 0 N - - HIVEP1 Ser170Gly S170G not reviewed Insufficiently evaluated not reviewed unknown Array rs61738287 132 10296 0.0128205 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIVEP1 Pro362Leu P362L not reviewed Insufficiently evaluated not reviewed unknown Array rs34221818 139 10194 0.0136355 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPLD1 Asp674Asn D674N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.862 - - -1 - 2 N - - HIST1H2BD Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.093 - - 7 Y 0 N - - HIST1H1B Ser173Ile S173I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZFP57 His515Arg H515R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-A Met331Arg M331R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231114 69 7516 0.00918042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - CCHCR1 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs130075 594 7506 0.0791367 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POU5F1 Thr118Ile T118I not reviewed Insufficiently evaluated not reviewed unknown Array 5 7518 0.00066507 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - HLA-C Thr162Lys T162K not reviewed Insufficiently evaluated not reviewed unknown Array rs17839903 1 16 0.0625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NOTCH4 Gly247Arg G247R not reviewed Insufficiently evaluated not reviewed unknown Array rs8192586 62 7524 0.0082403 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - HLA-DPA1 Leu97Ser L97S not reviewed Insufficiently evaluated not reviewed unknown Array rs2308917 335 7520 0.0445479 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LYPLA2P1 Gln152Lys Q152K not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LYPLA2P1 ArgAla148GlnAsn RA148QN not reviewed Insufficiently evaluated not reviewed unknown Array rs61734734 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZBTB9 Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF227 Ser13Arg S13R not reviewed Insufficiently evaluated not reviewed unknown Array rs7759154 360 10714 0.0336009 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCUBE3 Gln317Glu Q317E not reviewed Insufficiently evaluated not reviewed unknown Array rs35847323 49 10758 0.00455475 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - ETV7 Pro321Leu P321L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - ETV7 Gly199Ser G199S not reviewed Insufficiently evaluated not reviewed unknown Array rs34306145 131 10756 0.0121792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ETV7 His138Tyr H138Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9470262 132 10756 0.0122722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - -1 - 1 N - - TMEM217 Thr117Met T117M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DAAM2 Arg617His R617H not reviewed Insufficiently evaluated not reviewed unknown Array rs34699846 46 9960 0.00461847 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.908 - - 1 - 2 N - - DAAM2 Arg989Cys R989C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPS10 Phe7Val F7V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PRPH2 Phe171Ile F171I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 2 - 3 N - - CLIC5 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - GPR116 Asn160Ser N160S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHF3 Glu432Lys E432K not reviewed Insufficiently evaluated not reviewed unknown Array 304 10758 0.028258 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - PRDM1 Gly38Ser G38S not reviewed Insufficiently evaluated not reviewed unknown Array rs2185379 8 126 0.0634921 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK094715 Thr495Ser T495S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.365 - - -2 - 1 N - - LAMA4 Ile1817Thr I1817T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 3 - 1 N - - ROS1 Asn790Ser N790S not reviewed Insufficiently evaluated not reviewed unknown Array rs34582164 101 10758 0.00938836 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.688 - - 0 - 1 N - - C6ORF170 Arg1250Gln R1250Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 9790 0.00122574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM200A Val341Leu V341L not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - VNN2 Thr17Asn T17N not reviewed Insufficiently evaluated not reviewed unknown Array rs33950336 338 10758 0.0314185 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP7 Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1244 Gly32Ser G32S not reviewed Insufficiently evaluated not reviewed unknown Array 282 9478 0.0297531 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NHSL1 Gly342Arg G342R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ECT2L Ser91Phe S91F not reviewed Insufficiently evaluated not reviewed unknown Array 34 9538 0.00356469 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - SAMD5 Pro82Ser P82S not reviewed Insufficiently evaluated not reviewed unknown Array rs914955 44 3786 0.0116218 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SERAC1 Met466Leu M466L not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - -3 - 0 N - - SERAC1 Thr147Met T147M not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - SYTL3 Asp406Asn D406N not reviewed Insufficiently evaluated not reviewed unknown Array rs6929012 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RSPH3 Ala154Val A154V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750777 252 10758 0.0234244 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.343 - - 2 - 1 N - - TAGAP Ser44Arg S44R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - IGF2R Pro203Leu P203L not reviewed Insufficiently evaluated not reviewed unknown Array rs8191746 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.192 - - 7 Y 0 N - - IGF2R Ala724Thr A724T not reviewed Insufficiently evaluated not reviewed unknown Array rs6413491 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - LPA Thr2031Asn T2031N not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PACRG Pro232Thr P232T not reviewed Insufficiently evaluated not reviewed unknown Array 6 786 0.00763359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 4 Y 0 N - - DACT2 Pro198Ser P198S not reviewed Insufficiently evaluated not reviewed unknown Array 65 3218 0.0201989 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - HEATR2 Ile440Ser I440S not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 5 Y 2 N - - SUN1 Val147Met V147M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2W1 Val462Leu V462L not reviewed Insufficiently evaluated not reviewed unknown Array 179 10684 0.016754 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - AK125766 Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001099942 Lys207Arg K207R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743600 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SDK1 Pro1898Gln P1898Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - KIAA0415 Glu127Lys E127K not reviewed Insufficiently evaluated not reviewed unknown Array 100 10236 0.00976944 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAPOLB Asn583Ser N583S not reviewed Insufficiently evaluated not reviewed unknown Array 355 10358 0.034273 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBAK Glu179Lys E179K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF216 Ala123Val A123V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EIF2AK1 Phe368Val F368V not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK027618 Leu26Val L26V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISPD Gly23Cys G23C not reviewed Insufficiently evaluated not reviewed unknown Array 10 4942 0.00202347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHR Val660Met V660M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCB5 Glu1124Lys E1124K not reviewed Insufficiently evaluated not reviewed unknown Array rs59334881 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH11 Glu794Lys E794K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10062 0.00377658 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - DNAH11 Val2596Ile V2596I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10668 0.00262467 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - AK308991 Phe68Val F68V not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX748054 Gly40Ser G40S not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - EVX1 Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array 71 8274 0.0085811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - DQ579940 Arg100Gly R100G not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CRHR2 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array rs8192498 179 10758 0.0166388 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM188B Arg195Lys R195K not reviewed Insufficiently evaluated not reviewed unknown Array 27 9974 0.00270704 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FAM188B Ala355Val A355V not reviewed Insufficiently evaluated not reviewed unknown Array rs12672119 283 10068 0.0281089 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BMPER Pro487Leu P487L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 7 Y 2 N - - NM_001128060 Leu282Val L282V not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANLN Met34Val M34V not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - AOAH Asp210Asn D210N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - NM_001003806 Met79Thr M79T not reviewed Insufficiently evaluated not reviewed unknown Array rs17421361 10 94 0.106383 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - VPS41 Asp486Gly D486G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - STK17A Met242Val M242V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OGDH Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 0 - 0 N - - RAMP3 Gly135Val G135V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 8 Y 0 N - - PKD1L1 Pro2351Leu P2351L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - CDC14C Arg236Ser R236S not reviewed Insufficiently evaluated not reviewed unknown Array 4 72 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GRB10 Pro36Leu P36L not reviewed Insufficiently evaluated not reviewed unknown Array rs35647889 200 10176 0.0196541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - LANCL2 Thr245Met T245M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - SUMF2 Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC043523 Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_002789 Met17Thr M17T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF117 Arg144Gly R144G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.2 - - 6 Y 1 N - - NSUN5 Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array rs34913552 372 10736 0.0346498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.1 - - 3 - 0 N - - SRRM3 Ser27Ala S27A not reviewed Insufficiently evaluated not reviewed unknown Array rs6966223 329 7544 0.0436108 10 0 11 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SRRM3 Ala41Gly A41G not reviewed Insufficiently evaluated not reviewed unknown Array 1 7470 0.000133868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF804B Lys589Gln K589Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF804B Lys952Glu K952E not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ERVWE1 Ser217Pro S217P not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - CCDC132 Thr468Ala T468A not reviewed Insufficiently evaluated not reviewed unknown Array 20 9516 0.00210172 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.05 - - 1 - 0 N - - DYNC1I1 Leu199Met L199M not reviewed Insufficiently evaluated not reviewed unknown Array rs35314029 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRIM4 Gln252His Q252H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AZGP1 Ser298Arg S298R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10724 0.0036367 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - MBLAC1 Ala205Thr A205T not reviewed Insufficiently evaluated not reviewed unknown Array 110 10416 0.0105607 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.208 - - 1 - 1 N - - PILRB Arg116Gln R116Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.396 - - 0 - 1 N - - PILRA Ser83Gly S83G not reviewed Insufficiently evaluated not reviewed unknown Array 209 10756 0.019431 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.15 - - 2 - 0 N - - ZAN Tyr2333Ser Y2333S not reviewed Insufficiently evaluated not reviewed unknown Array rs60783739 588 10002 0.0587882 14 0 16 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZAN Leu2348Phe L2348F not reviewed Insufficiently evaluated not reviewed unknown Array rs59541653 821 8178 0.100391 13 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC3A His364Pro H364P not reviewed Insufficiently evaluated not reviewed unknown Array rs73163763 352 4586 0.0767553 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - MUC17 Cys1375His C1375H not reviewed Insufficiently evaluated not reviewed unknown Array rs4367469 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC17 Thr1641Lys T1641K not reviewed Insufficiently evaluated not reviewed unknown Array 2 86 0.0232558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Pro1642Leu P1642L not reviewed Insufficiently evaluated not reviewed unknown Array 2 86 0.0232558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC17 Ala1644Ser A1644S not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC17 Pro1851Thr P1851T not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Glu1853Asp E1853D not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 Thr1855Ser T1855S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 IleAla1857MetPro IA1857MP not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Ser1863Arg S1863R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 SerThr1866ArgPro ST1866RP not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Ser3084Thr S3084T not reviewed Insufficiently evaluated not reviewed unknown Array 5 122 0.0409836 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 Ile3241Thr I3241T not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EMID2 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array rs35490880 121 9718 0.0124511 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAJC2 Leu70Met L70M not reviewed Insufficiently evaluated not reviewed unknown Array 79 9552 0.00827052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - MDFIC Gly44Cys G44C not reviewed Insufficiently evaluated not reviewed unknown Array 3 8592 0.000349162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF58 Tyr107Cys Y107C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRZ1 Met1252Val M1252V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PRRT4 Asp156Asn D156N not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPA1 Gln202Lys Q202K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735962 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EEF1G Cys46Gly C46G not reviewed Insufficiently evaluated not reviewed unknown Array rs6977054 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP6V0A4 Gln637Arg Q637R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TBXAS1 Arg425Cys R425C not reviewed Insufficiently evaluated not reviewed unknown Array rs5762 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MGAM Ile25Val I25V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733478 122 9608 0.0126978 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - OR6W1P Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001126313 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753911 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF767 Thr134Ala T134A not reviewed Insufficiently evaluated not reviewed unknown Array rs354055 18 126 0.142857 15 0 16 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF767 Met21Val M21V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.154 - - 0 - 0 N - - ZNF862 Leu134Gln L134Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - ZNF862 Thr927Met T927M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10176 0.000589622 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GALNT11 Pro151Ser P151S not reviewed Insufficiently evaluated not reviewed unknown Array rs6464201 372 10758 0.0345789 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - HTR5A Val231Leu V231L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - NCAPG2 Ala341Thr A341T not reviewed Insufficiently evaluated not reviewed unknown Array 22 9544 0.00230511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - NM_001080826 His1077Gln H1077Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2011560 88 10534 0.0083539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSRA Pro190Ala P190A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PRSS55 Glu221Ala E221A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.721 - - 3 - 1 N - - RP1L1 Glu1852Gln E1852Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 9808 0.00295677 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCM1 Asn1875Lys N1875K not reviewed Insufficiently evaluated not reviewed unknown Array 32 9632 0.00332226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - SLC25A37 Ala248Ser A248S not reviewed Insufficiently evaluated not reviewed unknown Array 76 9718 0.00782054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -1 - 0 N - - NKX3-1 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array rs57111114 87 8444 0.0103032 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - UBXN8 Val18Met V18M not reviewed Insufficiently evaluated not reviewed unknown Array rs3174043 250 9942 0.0251458 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WRN Ile979Met I979M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - C8ORF41 Arg344Gln R344Q not reviewed Insufficiently evaluated not reviewed unknown Array 215 10758 0.0199851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNU1 Ser953Leu S953L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - HTRA4 Val184Ala V184A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - ADAM2 Arg34Trp R34W not reviewed Insufficiently evaluated not reviewed unknown Array 21 10752 0.00195312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - IDO1 Arg77His R77H not reviewed Insufficiently evaluated not reviewed unknown Array rs35099072 29 10110 0.00286845 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PRKDC Cys3233Tyr C3233Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 9944 0.000603378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRKDC Ile680Met I680M not reviewed Insufficiently evaluated not reviewed unknown Array rs8178040 112 9460 0.0118393 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MCM4 Arg661Cys R661C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - OPRK1 Lys200Glu K200E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.661 - - 0 - 1 N - - MRPL15 Ala25Thr A25T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PENK Thr83Asn T83N not reviewed Insufficiently evaluated not reviewed unknown Array rs11998459 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR611604 Ala330Ile A330I not reviewed Insufficiently evaluated not reviewed unknown Array rs3802285 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYBL1 Phe252Ile F252I not reviewed Insufficiently evaluated not reviewed unknown Array 18 9494 0.00189593 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - LRRC67 Arg91Thr R91T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10740 0.00260708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK309726 Val7Ile V7I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZFHX4 Ser1196Leu S1196L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10164 0.000885478 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - MRPS28 Leu62Pro L62P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - REXO1L1 Phe223Leu F223L not reviewed Insufficiently evaluated not reviewed unknown Array 2 2 1 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1429 Arg780His R780H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NM_016134 Ser138Asn S138N not reviewed Insufficiently evaluated not reviewed unknown Array rs34088584 336 10758 0.0312326 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - NUDCD1 Ile180Thr I180T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - ZHX2 Asp615Asn D615N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -1 - 0 N - - KLHL38 Pro548Ser P548S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KLHL38 Gly310Ser G310S not reviewed Insufficiently evaluated not reviewed unknown Array rs16898693 58 10126 0.00572783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC45A4 Glu705Asp E705D not reviewed Insufficiently evaluated not reviewed unknown Array 96 10756 0.00892525 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC45A4 Ser358Leu S358L not reviewed Insufficiently evaluated not reviewed unknown Array rs61995888 32 10738 0.00298007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LY6K Tyr178Cys Y178C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPATC1 Pro195Leu P195L not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SHARPIN Gly64Val G64V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 8 Y 1 N - - ZNF34 Val167Phe V167F not reviewed Insufficiently evaluated not reviewed unknown Array rs2979093 75 9972 0.00752106 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF517 Pro6Leu P6L not reviewed Insufficiently evaluated not reviewed unknown Array rs2976649 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INSL4 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array rs7024833 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.105 - - 2 - 0 N - - INSL4 Arg29Lys R29K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - INSL4 Arg111Cys R111C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.65 - - 8 Y 1 N - - RLN1 Asp30Glu D30E not reviewed Insufficiently evaluated not reviewed unknown Array rs62638697 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RLN1 Asp29Glu D29E not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RLN1 Lys28Met K28M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RLN1 GluPhe11GlyVal EF11GV not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RLN1 Leu6Phe L6F not reviewed Insufficiently evaluated not reviewed unknown Array rs62638699 4 10750 0.000372093 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF123 Thr83Ala T83A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10752 0.00530134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Val4Gly V4G not reviewed Insufficiently evaluated not reviewed unknown Array 29 10496 0.00276296 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM154A Pro383Ser P383S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - HAUS6 Thr779Ser T779S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10678 0.00561903 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - HAUS6 Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array 62 10754 0.0057653 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 2 - 1 N - - TAF1L Thr1169Ile T1169I not reviewed Insufficiently evaluated not reviewed unknown Array rs55976674 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - NOL6 Arg1104His R1104H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ANXA2 Glu53Ala E53A not reviewed Insufficiently evaluated not reviewed unknown Array rs855523 16 128 0.125 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK128180 Cys88Tyr C88Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3934948 5 100 0.05 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM166B Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array 459 10476 0.0438144 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CA9 Glu181Lys E181K not reviewed Insufficiently evaluated not reviewed unknown Array 3 9408 0.000318877 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 0 - 2 N - - SPAG8 Arg434Trp R434W not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM8B Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 167 10668 0.0156543 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2S2 Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array rs2233563 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR1E Asp192His D192H not reviewed Insufficiently evaluated not reviewed unknown Array rs7863488 291 10758 0.0270496 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLR1E Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array rs16934203 253 10758 0.0235174 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMPD1 Ala797Asp A797D not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD18A Lys934Glu K934E not reviewed Insufficiently evaluated not reviewed unknown Array rs41278339 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRUNE2 Asp885Gly D885G not reviewed Insufficiently evaluated not reviewed unknown Array rs12351796 6 7820 0.000767263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRUNE2 Asp540Ala D540A not reviewed Insufficiently evaluated not reviewed unknown Array 146 7820 0.0186701 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FRMD3 Gly397Cys G397C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - HEMGN Val97Ala V97A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 2 - 1 N - - COL15A1 Ala200Thr A200T not reviewed Insufficiently evaluated not reviewed unknown Array rs61999303 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.422 - - 1 - 1 N - - OR13C4 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array rs61738891 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - ABCA1 Glu868Lys E868K not reviewed Insufficiently evaluated not reviewed unknown Array rs35207495 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - KIAA0368 Lys1106Arg K1106R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741388 127 9648 0.0131633 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AKNA Arg506Cys R506C not reviewed Insufficiently evaluated not reviewed unknown Array rs60819454 301 10758 0.0279792 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TNC His444Tyr H444Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PAPPA Glu373Lys E373K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSMD5 Ala7Ser A7S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10688 9.3562e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C5 Arg928Gln R928Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41309892 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - RC3H2 Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array 32 9804 0.00326397 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.222 - - 0 - 1 N - - C9ORF117 Thr217Met T217M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10030 0.000498504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FPGS Ser488Asn S488N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA2 Arg943His R943H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF119 Val51Leu V51L not reviewed Insufficiently evaluated not reviewed unknown Array 190 9680 0.0196281 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP188 Arg198Ser R198S not reviewed Insufficiently evaluated not reviewed unknown Array rs17507964 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - NUP188 Val205Ala V205A not reviewed Insufficiently evaluated not reviewed unknown Array rs17507971 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.636 - - 2 - 1 N - - AL834139 Arg231Leu R231L not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FIBCD1 Ser114Leu S114L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_013318 Ser1231Thr S1231T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FCN1 Gly43Asp G43D not reviewed Insufficiently evaluated not reviewed unknown Array rs10441778 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SNAPC4 Lys962Thr K962T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10724 0.00587467 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 3 - 0 N - - EXD3 Arg810Gln R810Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28685844 104 10030 0.0103689 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - EXD3 Ala502Val A502V not reviewed Insufficiently evaluated not reviewed unknown Array 192 10346 0.0185579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXD3 Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1B Arg2002Cys R2002C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CR593643 Arg319His R319H not reviewed Insufficiently evaluated not reviewed unknown Array rs7852275 3 102 0.0294118 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - AF391805 Leu170Pro L170P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AF391805 Gly174Arg G174R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCXD1 Ala169Thr A169T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10750 0.00288372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC093994 Gly5Lys G5K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC093994 Glu24Gly E24G not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASMTL Arg568His R568H not reviewed Insufficiently evaluated not reviewed unknown Array rs11553055 242 10470 0.0231137 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.539 - - 1 - 1 N - - ARSD Val500Ile V500I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229557 91 8709 0.010449 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - ARSD Gly409Glu G409E not reviewed Insufficiently evaluated not reviewed unknown Array 98 8761 0.0111859 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MXRA5 Pro754Leu P754L not reviewed Insufficiently evaluated not reviewed unknown Array 50 8761 0.00570711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - NHS Phe1411Leu F1411L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 0 - 2 N - - PPEF1 Arg193Gly R193G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 6 Y 0 N - - CNKSR2 Asp995Asn D995N not reviewed Insufficiently evaluated not reviewed unknown Array 145 8761 0.0165506 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.123 - - -1 - 0 N - - ZNF645 Gln312Pro Q312P not reviewed Insufficiently evaluated not reviewed unknown Array 29 8761 0.00331012 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - PRDX4 Asp105Asn D105N not reviewed Insufficiently evaluated not reviewed unknown Array 65 8761 0.00741924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - -1 - 2 N - - ACOT9 Met194Ile M194I not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SMEK3P Leu830Phe L830F not reviewed Insufficiently evaluated not reviewed unknown Array 3 92 0.0326087 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - GPR82 Ser185Asn S185N not reviewed Insufficiently evaluated not reviewed unknown Array 61 8761 0.00696268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RP2 Ile201Val I201V not reviewed Insufficiently evaluated not reviewed unknown Array 42 8761 0.00479397 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ZNF41 Ala101Thr A101T not reviewed Insufficiently evaluated not reviewed unknown Array 2 8756 0.000228414 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SYN1 Ala51Gly A51G not reviewed Insufficiently evaluated not reviewed unknown Array 36 5585 0.00644584 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.263 Y - 1 - 2 N - - ZNF81 Gly117Val G117V not reviewed Insufficiently evaluated not reviewed unknown Array rs17147793 86 7604 0.0113098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - SSX3 Thr77Ala T77A not reviewed Insufficiently evaluated not reviewed unknown Array 526 8761 0.0600388 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TFE3 Pro218Thr P218T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - PYY3 Thr28Ile T28I not reviewed Insufficiently evaluated not reviewed unknown Array rs5953365 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AWAT2 Asp84Asn D84N not reviewed Insufficiently evaluated not reviewed unknown Array 76 8761 0.00867481 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - BEX2 Asn32Asp N32D not reviewed Insufficiently evaluated not reviewed unknown Array rs7880436 119 8761 0.0135829 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.817 - - -1 - 1 N - - GUCY2F Gly223Glu G223E not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - KIAA1210 Pro844Ala P844A not reviewed Insufficiently evaluated not reviewed unknown Array rs7063611 128 7738 0.0165417 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 2 - 1 N - - KIAA1210 Ala294Thr A294T not reviewed Insufficiently evaluated not reviewed unknown Array rs34835592 122 8125 0.0150154 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.275 - - 1 - 1 N - - UPF3B Arg374His R374H not reviewed Insufficiently evaluated not reviewed unknown Array 17 8761 0.00194042 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.886 Y - 1 - 3 N - - CXORF64 Pro196Leu P196L not reviewed Insufficiently evaluated not reviewed unknown Array 28 2482 0.0112812 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TFDP3 His87Tyr H87Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61732904 2 92 0.0217391 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR112 Thr2407Met T2407M not reviewed Insufficiently evaluated not reviewed unknown Array 90 8761 0.0102728 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEA12 Glu57Asp E57D not reviewed Insufficiently evaluated not reviewed unknown Array rs16996512 301 8761 0.0343568 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - GJB4 Cys169Trp C169W not reviewed Insufficiently evaluated not reviewed unknown Array 303 10758 0.0281651 3 0 3 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - DPYD Asp949Val D949V not reviewed Insufficiently evaluated not reviewed unknown Array rs67376798 42 10758 0.00390407 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.981 Y - 8 Y 3 N - - AGL Phe1306Ser F1306S not reviewed Insufficiently evaluated not reviewed unknown Array rs41285738 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.907 Y - 5 Y 3 N - - FLG ValGly2225AlaVal VG2225AV not reviewed Insufficiently evaluated not reviewed unknown Array rs71585892 3 108 0.0277778 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG Leu2224Gln L2224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs117945779 11 10758 0.00102249 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Ala1317Val A1317V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Arg897Ser R897S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CFHR5 Arg356His R356H not reviewed Insufficiently evaluated not reviewed unknown Array rs35662416 226 10752 0.0210193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.701 Y Y 1 - 3 N - - C1ORF116 Asp23Shift D23Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MTR Arg1027Trp R1027W not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.667 Y Y 7 Y 3 N - - RET Leu56Met L56M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -3 - 2 N - - C10ORF2 Arg371Gln R371Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BX647301 Glu29Shift E29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG8 Ile439Thr I439T not reviewed Insufficiently evaluated not reviewed unknown Array rs17825668 271 10612 0.0255371 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 3 - 2 N - - FZD4 Pro33Ser P33S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735304 135 10680 0.0126404 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CRYAB Gly154Ser G154S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.065 Y Y 2 - 2 N - - OR8B3 Leu184Shift L184Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLBD1 Ile409Shift I409Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRPV4 Ser46Phe S46F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.442 Y - 5 Y 2 N - - PTPN11 Tyr375Cys Y375C not reviewed Insufficiently evaluated not reviewed unknown Array rs41299183 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.039 Y Y 6 Y 2 N - - RNF113B Ala85Shift A85Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK056814 Asn339Shift N339Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSC2 Ala583Thr A583T not reviewed Insufficiently evaluated not reviewed unknown Array rs1800729 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.957 Y Y 1 - 4 N - - FAM38A Glu987Shift E987Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 56 0.0178571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Trp18Shift W18Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72318787 2 52 0.0384615 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Ala27Shift A27Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Cys172Shift C172Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 24 0.0416667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RPH3AL Arg289Stop R289X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCN4A Leu801Phe L801F not reviewed Insufficiently evaluated not reviewed unknown Array 3 96 0.03125 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 4 N - - C17ORF77 Glu85Stop E85X not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USP14 Tyr333Shift Y333Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001039796 Leu109Shift L109Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34502939 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DSC2 Met589Thr M589T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y 2 - 2 N - - STARD6 Arg19Stop R19X not reviewed Insufficiently evaluated not reviewed unknown Array rs17292725 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1A Ala453Thr A453T not reviewed Insufficiently evaluated not reviewed unknown Array rs41276886 40 9736 0.00410846 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TNNI3 ArgArg21HisCys RR21HC not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - AK094748 Gln220Stop Q220X not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM179A Arg890Stop R890X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PEX13 Leu360Val L360V not reviewed Insufficiently evaluated not reviewed unknown Array 276 10758 0.0256553 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Ala170Glu A170E not reviewed Insufficiently evaluated not reviewed unknown Array rs34999029 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - ALMS1 Thr666Ala T666A not reviewed Insufficiently evaluated not reviewed unknown Array rs28730850 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ZRANB3 Ala345Shift A345Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Pro6213Ser P6213S not reviewed Insufficiently evaluated not reviewed unknown Array 22 9548 0.00230415 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NEB Asp5573Asn D5573N not reviewed Insufficiently evaluated not reviewed unknown Array rs35625617 177 9758 0.018139 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SCN9A Arg1110Gln R1110Q not reviewed Insufficiently evaluated not reviewed unknown Array 232 9682 0.023962 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ala32686Phe A32686F not reviewed Insufficiently evaluated not reviewed unknown Array rs66961115 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Glu32680Lys E32680K not reviewed Insufficiently evaluated not reviewed unknown Array rs56324595 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val10200Shift V10200Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TTN Arg2120Trp R2120W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CPS1 Ala347Ser A347S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - EP300 Met289Val M289V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230111 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALG12 Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.027 Y Y 0 - 2 N - - PLXNB2 Gly305Shift G305Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SETD2 Gly375Shift G375Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BSN Lys2284Shift K2284Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM194A Glu30Shift E30Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRC33 Arg60Shift R60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR98 Ile2858Val I2858V not reviewed Insufficiently evaluated not reviewed unknown Array rs41308297 9 9546 0.000942803 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -4 - 2 N - - GPR98 Lys5673Glu K5673E not reviewed Insufficiently evaluated not reviewed unknown Array rs41303350 26 9662 0.00269095 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN2 Ala68Val A68V not reviewed Insufficiently evaluated not reviewed unknown Array rs62390671 401 10724 0.0373928 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HLA-DQB1 GluLeu106SerVal EL106SV not reviewed Insufficiently evaluated not reviewed unknown Array rs9274384 3 24 0.125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - HLA-DQB1 Leu58Gly L58G not reviewed Insufficiently evaluated not reviewed unknown Array rs1049066 5 38 0.131579 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - NM_001128060 Gln72Stop Q72X not reviewed Insufficiently evaluated not reviewed unknown Array rs2727847 5 110 0.0454545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MLL5 Thr641Shift T641Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNC Ala709Thr A709T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10360 0.000289575 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.041 Y Y 1 - 2 N - - EFHA2 Asp483Shift D483Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGFR1 Asp133Del D133Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CHD7 Ser698Shift S698Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CNGB3 Ala807Gly A807G not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.697 Y Y 1 - 3 N - - APTX Gln324Leu Q324L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - KIAA1045 Pro349Shift P349Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZBTB26 Ser158Shift S158Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C9ORF69 Leu15Shift L15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM9A Gln160Shift Q160Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DIAPH2 Asn423Shift N423Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 81 0.0246914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FHL1 Asp275Asn D275N not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ACTRT2 Lys55Del K55Del not reviewed Insufficiently evaluated not reviewed unknown Array rs4013154 18 126 0.142857 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PLEKHG5 Glu779Del E779Del not reviewed Insufficiently evaluated not reviewed unknown Array rs62639695 2 84 0.0238095 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXO44 Ala165Thr A165T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - C1ORF167 Arg176Gly R176G not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNFRSF8 Cys273Tyr C273Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2230624 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF89 Gly163Val G163V not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYOM3 Ile434Val I434V not reviewed Insufficiently evaluated not reviewed unknown Array 107 10188 0.0105026 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RHD Leu121Met L121M not reviewed Insufficiently evaluated not reviewed unknown Array rs41267489 4 112 0.0357143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RHD Asp128Gly D128G not reviewed Insufficiently evaluated not reviewed unknown Array 4 110 0.0363636 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBXN11 Lys315Asn K315N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10322 0.000581282 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 1 - 1 N - - COL16A1 Lys398Arg K398R not reviewed Insufficiently evaluated not reviewed unknown Array 66 9914 0.00665725 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - -3 - 2 N - - TMEM39B Gln357His Q357H not reviewed Insufficiently evaluated not reviewed unknown Array rs41263987 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8A Pro575Ser P575S not reviewed Insufficiently evaluated not reviewed unknown Array rs41285938 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - HOOK1 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 2 - 0 N - - C1ORF87 Ile22Thr I22T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - L1TD1 GluPro409AspThr EP409DT not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KANK4 His171Arg H171R not reviewed Insufficiently evaluated not reviewed unknown Array rs41309173 328 10754 0.0305003 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF644 Glu885Asp E885D not reviewed Insufficiently evaluated not reviewed unknown Array rs41286761 258 10754 0.0239911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RBM15 Ser26Gly S26G not reviewed Insufficiently evaluated not reviewed unknown Array 84 10744 0.00781832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - CD101 Val403Met V403M not reviewed Insufficiently evaluated not reviewed unknown Array rs41276562 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - MAN1A2 Ala630Thr A630T not reviewed Insufficiently evaluated not reviewed unknown Array rs41296190 152 10756 0.0141316 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CGN Val333Met V333M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THEM4 Arg81His R81H not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - HRNR Ser890Pro S890P not reviewed Insufficiently evaluated not reviewed unknown Array rs41266132 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLG2 Arg1106Ser R1106S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LCE2C Ser72Cys S72C not reviewed Insufficiently evaluated not reviewed unknown Array rs41305072 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGLYRP3 Glu138Gly E138G not reviewed Insufficiently evaluated not reviewed unknown Array rs41264632 114 10758 0.0105968 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - DCST2 Pro772Leu P772L not reviewed Insufficiently evaluated not reviewed unknown Array 6 9600 0.000625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAQR6 Arg30Cys R30C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - NES Pro425Ser P425S not reviewed Insufficiently evaluated not reviewed unknown Array rs41267405 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - HSPA6 Arg577Gln R577Q not reviewed Insufficiently evaluated not reviewed unknown Array rs368844 356 10758 0.0330917 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR3B Leu66Arg L66R not reviewed Insufficiently evaluated not reviewed unknown Array 4 80 0.05 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - C1ORF129 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 62 9562 0.006484 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0040 AsnLysLys65Del NKK65Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71514832 42 104 0.403846 12 0 18 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - RFWD2 Val99Gly V99G not reviewed Insufficiently evaluated not reviewed unknown Array 85 10530 0.00807217 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TDRD5 Gln288Arg Q288R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10752 0.00427827 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - IER5 Pro285Ser P285S not reviewed Insufficiently evaluated not reviewed unknown Array rs3747951 436 10758 0.040528 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - GLT25D2 Arg320His R320H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCNXL2 His1176Tyr H1176Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 9512 0.00220774 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - KIF26B Leu579Val L579V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754955 138 9818 0.0140558 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.789 - - 0 - 1 N - - PGBD2 Arg375Cys R375C not reviewed Insufficiently evaluated not reviewed unknown Array rs41305582 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - GTPBP4 Pro561Ala P561A not reviewed Insufficiently evaluated not reviewed unknown Array rs41294962 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 2 - 0 N - - ENKUR Ile28Lys I28K not reviewed Insufficiently evaluated not reviewed unknown Array rs41279884 19 10744 0.00176843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDSS1 Lys197Glu K197E not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - ARHGAP12 Asn133Ser N133S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - PARD3 Ala937Val A937V not reviewed Insufficiently evaluated not reviewed unknown Array rs16935326 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GDF10 Arg337Cys R337C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - WDFY4 Ala2559Thr A2559T not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AIFM2 Arg253Cys R253C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.862 - - 8 Y 2 N - - AK025189 Asn122Lys N122K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DYDC2 Arg41Asn R41N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM35A Arg747His R747H not reviewed Insufficiently evaluated not reviewed unknown Array rs11816168 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - RPP30 Gly12Asp G12D not reviewed Insufficiently evaluated not reviewed unknown Array rs11544145 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OPALIN Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array rs41306852 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - GBF1 Gly1693Ser G1693S not reviewed Insufficiently evaluated not reviewed unknown Array rs11191274 1016 10758 0.0944413 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.92 - - 2 - 1 N - - PDCD11 Lys45Glu K45E not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - C10ORF79 Asp1513Ala D1513A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HMX3 Gly215Asp G215D not reviewed Insufficiently evaluated not reviewed unknown Array rs45492702 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 4 Y 0 N - - LRDD Arg551Cys R551C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10680 0.000936329 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - PNPLA2 Pro265Ser P265S not reviewed Insufficiently evaluated not reviewed unknown Array rs56152088 177 10646 0.016626 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 3 - 1 N - - MUC5AC Glu3076Lys E3076K not reviewed Insufficiently evaluated not reviewed unknown Array rs2943522 268 9932 0.0269835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Arg3770Gln R3770Q not reviewed Insufficiently evaluated not reviewed unknown Array 141 10450 0.0134928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR52I1 Cys65Ser C65S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 3 - 2 N - - OR51G1 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - MRPL17 Asp139Gly D139G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - GVINP1 Arg1550Lys R1550K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735336 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C11ORF16 Arg467His R467H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPH1 Leu274Ile L274I not reviewed Insufficiently evaluated not reviewed unknown Array rs41274350 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.561 - - -2 - 1 N - - OR8H1 Phe61Leu F61L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PRG3 Arg174Gln R174Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10752 0.00130208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 0 - 1 N - - OR10V1 Ala67Glu A67E not reviewed Insufficiently evaluated not reviewed unknown Array 402 10758 0.0373675 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - ESRRA Thr31Ile T31I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10246 0.00409916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC88B Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - ATG2A Arg804Trp R804W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - FRMD8 Glu142Lys E142K not reviewed Insufficiently evaluated not reviewed unknown Array rs61763056 12 10738 0.00111753 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - PELI3 Ala307Val A307V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10536 0.00360668 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - FGF19 Gly181Ser G181S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - P2RY2 Asp17Gly D17G not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RSF1 Ala507Thr A507T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ODZ4 Glu506Gln E506Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17137261 109 3234 0.0337044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.258 - - -2 - 1 N - - CCDC89 Asn98Lys N98K not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - SYTL2 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array 192 10758 0.0178472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC81 Thr201Asn T201N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZC3H12C Asp852Ala D852A not reviewed Insufficiently evaluated not reviewed unknown Array rs61756697 195 9760 0.0199795 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - CEP164 His477Arg H477R not reviewed Insufficiently evaluated not reviewed unknown Array 262 10744 0.0243857 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR4D5 Met199Val M199V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - OR10G9 Ala306Thr A306T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKNOX2 Arg72Gln R72Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10126 9.8755e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - CD163L1 Arg591Leu R591L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD163 Asn1104Tyr N1104Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - GYS2 Asp669Asn D669N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - ADAMTS20 Arg482Gln R482Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO6 Glu423Gln E423Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - AK310674 Leu35Phe L35F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD33 Pro297Leu P297L not reviewed Insufficiently evaluated not reviewed unknown Array 306 10756 0.0284492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APOF MetArg12IleGly MR12IG not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MIP Val107Ile V107I not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - C12ORF56 Arg77Trp R77W not reviewed Insufficiently evaluated not reviewed unknown Array 6 9960 0.000602409 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAPS2 Leu190Val L190V not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - UTP20 Lys2128Arg K2128R not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - -3 - 1 N - - ASCL4 Pro100Thr P100T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - TCTN1 Gly466Cys G466C not reviewed Insufficiently evaluated not reviewed unknown Array 151 9696 0.0155734 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.354 - - 7 Y 1 N - - MED13L Lys1171Arg K1171R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -3 - 0 N - - MORN3 Ser28Arg S28R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR66 Gly62Lys G62K not reviewed Insufficiently evaluated not reviewed unknown Array rs71082910 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MLXIP Met737Val M737V not reviewed Insufficiently evaluated not reviewed unknown Array 334 10638 0.0313969 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - HIP1R Cys938Phe C938F not reviewed Insufficiently evaluated not reviewed unknown Array rs34149579 392 10758 0.036438 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - C12ORF65 Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP17 Leu78Met L78M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - -3 - 1 N - - SGCG Arg116His R116H not reviewed Insufficiently evaluated not reviewed unknown Array rs17314986 1112 10758 0.103365 6 0 6 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 1 - 2 N - - ATP8A2 Val760Met V760M not reviewed Insufficiently evaluated not reviewed unknown Array rs35540339 65 9996 0.0065026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP11 Lys1545Gln K1545Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - WDFY2 Arg356Cys R356C not reviewed Insufficiently evaluated not reviewed unknown Array rs35409673 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SLC15A1 Ile631Thr I631T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - LAMP1 Ala320Gly A320G not reviewed Insufficiently evaluated not reviewed unknown Array rs41286620 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF219 ProGlu252Del PE252Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGAP5 Asn1117Asp N1117D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - -1 - 1 N - - MAP4K5 Asn295Lys N295K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTHFD1 Arg772Cys R772C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SIPA1L1 Phe929Leu F929L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - C14ORF166B Arg62Trp R62W not reviewed Insufficiently evaluated not reviewed unknown Array 167 9708 0.0172023 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746996 Met21Thr M21T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0284 Ala949Thr A949T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10298 9.7106e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF80 Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM6 Val85Phe V85F not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747926 Gln152His Q152H not reviewed Insufficiently evaluated not reviewed unknown Array 6 106 0.0566038 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - FAM189A1 Ala435Pro A435P not reviewed Insufficiently evaluated not reviewed unknown Array rs61736885 28 3234 0.00865801 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - ZFP106 Met656Val M656V not reviewed Insufficiently evaluated not reviewed unknown Array rs34792942 649 10758 0.0603272 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - TGM7 Val614Met V614M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - SECISBP2L Met33Val M33V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NM_001093733 Thr151Met T151M not reviewed Insufficiently evaluated not reviewed unknown Array rs7178754 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCAMP5 Met209Gln M209Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 102 0.0294118 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS7 Arg475His R475H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASGRF1 Ala828Pro A828P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C15ORF26 Cys148Gly C148G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKAP13 Tyr824Phe Y824F not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - SYNM Ser1076Leu S1076L not reviewed Insufficiently evaluated not reviewed unknown Array rs5030699 725 10252 0.0707179 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - WDR90 Arg578His R578H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10586 0.00066125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - PRR25 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK056814 Ala221Ser A221S not reviewed Insufficiently evaluated not reviewed unknown Array 2 100 0.02 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BAIAP3 Thr194Met T194M not reviewed Insufficiently evaluated not reviewed unknown Array 97 10748 0.00902493 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 1 N - - MRPS34 Leu33Ile L33I not reviewed Insufficiently evaluated not reviewed unknown Array rs11552431 554 8336 0.0664587 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - SPSB3 Ser171Leu S171L not reviewed Insufficiently evaluated not reviewed unknown Array rs35816944 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - RPL3L Val262Met V262M not reviewed Insufficiently evaluated not reviewed unknown Array 215 10756 0.0199888 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.637 - - 0 - 1 N - - DNASE1L2 His170Gln H170Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 62 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - ZNF434 Tyr331His Y331H not reviewed Insufficiently evaluated not reviewed unknown Array rs27230 1449 10758 0.13469 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF597 Phe406Cys F406C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - SLX4 Ser1271Phe S1271F not reviewed Insufficiently evaluated not reviewed unknown Array rs3810813 430 10758 0.0399703 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.679 - - 5 Y 1 N - - CARHSP1 Met111Ile M111I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 1 N - - TMC5 Ala520Glu A520E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.257 - - 3 - 1 N - - NM_014711 Phe347Ile F347I not reviewed Insufficiently evaluated not reviewed unknown Array rs11645625 318 10758 0.0295594 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - ACSM5 His23Arg H23R not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ACSM5 Lys25Gln K25Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACSM1 Ala176Pro A176P not reviewed Insufficiently evaluated not reviewed unknown Array rs61740631 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.751 - - 2 - 1 N - - AL834164 Gln14Arg Q14R not reviewed Insufficiently evaluated not reviewed unknown Array rs651641 2 54 0.037037 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP48 Ser1111Leu S1111L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OGFOD1 Ile201Asn I201N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.589 - - 7 Y 1 N - - KIAA0895L Arg459Gln R459Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10446 9.573e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - 0 - 1 N - - HPR Thr27Met T27M not reviewed Insufficiently evaluated not reviewed unknown Array rs11642506 454 10560 0.0429924 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM231 Ser2Arg S2R not reviewed Insufficiently evaluated not reviewed unknown Array rs3743601 24 128 0.1875 16 0 23 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TERF2IP Lys324Glu K324E not reviewed Insufficiently evaluated not reviewed unknown Array rs4888444 374 10758 0.0347648 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - PKD1L2 Arg2245Thr R2245T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10120 0.000296442 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MPHOSPH6 Ile58Val I58V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303267 257 10718 0.0239784 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CA5A Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - SNAI3 Gly53Ser G53S not reviewed Insufficiently evaluated not reviewed unknown Array rs45506693 5 10678 0.000468252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTU2 Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11549835 1070 10708 0.0999253 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.089 - - 0 - 0 N - - ANKRD11 Pro2022Leu P2022L not reviewed Insufficiently evaluated not reviewed unknown Array 3 7970 0.000376411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO1C Val287Ile V287I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIF1C Pro700Leu P700L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - CTDNEP1 Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array rs3744399 1118 10748 0.104019 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NEURL4 Val95Ile V95I not reviewed Insufficiently evaluated not reviewed unknown Array 26 9796 0.00265414 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - ZBTB4 Asn561Ser N561S not reviewed Insufficiently evaluated not reviewed unknown Array rs34914463 939 10746 0.0873813 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.792 - - 0 - 0 N - - CNTROB Pro573Leu P573L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - PFAS Arg206His R206H not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC48 Ala442Gly A442G not reviewed Insufficiently evaluated not reviewed unknown Array 15 48 0.3125 14 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FAM106A Ser23Pro S23P not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIGS Ala490Thr A490T not reviewed Insufficiently evaluated not reviewed unknown Array rs61755367 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - SUZ12 Ala66Thr A66T not reviewed Insufficiently evaluated not reviewed unknown Array 1 8732 0.000114521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF207 Asn290Ser N290S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF830 Arg76Gly R76G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 6 Y 2 N - - CACNB1 Gly533Val G533V not reviewed Insufficiently evaluated not reviewed unknown Array 34 9686 0.00351022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 8 Y 0 N - - KRTAP9-9 Gln20Lys Q20K not reviewed Insufficiently evaluated not reviewed unknown Array 9 52 0.173077 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CDC27 Asn190Arg N190R not reviewed Insufficiently evaluated not reviewed unknown Array rs1058529 12 70 0.171429 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDC27 GlnVal187LeuGly QV187LG not reviewed Insufficiently evaluated not reviewed unknown Array 4 96 0.0416667 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CLTC Arg1498His R1498H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - MRC2 Arg1292Gln R1292Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EVPL Tyr168Cys Y168C not reviewed Insufficiently evaluated not reviewed unknown Array rs10445216 205 10752 0.0190662 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BHLHE40 Gly7Ala G7A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AF303374 Cys133Trp C133W not reviewed Insufficiently evaluated not reviewed unknown Array rs34145740 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TCEB3C Leu375Pro L375P not reviewed Insufficiently evaluated not reviewed unknown Array rs2261291 6 108 0.0555556 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TCEB3B Lys191Glu K191E not reviewed Insufficiently evaluated not reviewed unknown Array 6 90 0.0666667 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - TCEB3B Ala188Val A188V not reviewed Insufficiently evaluated not reviewed unknown Array 5 98 0.0510204 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TCEB3B Ile160Met I160M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TCEB3B Cys157Arg C157R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TCEB3B His147Pro H147P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1468 Met668Val M668V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - ODF3L2 Thr275Met T275M not reviewed Insufficiently evaluated not reviewed unknown Array 62 10706 0.00579114 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 2 - 2 N - - POLRMT Val60Met V60M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10556 0.00303145 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - WDR18 Gly367Val G367V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 8 Y 1 N - - C19ORF24 Leu18Phe L18F not reviewed Insufficiently evaluated not reviewed unknown Array rs12460305 376 10750 0.0349767 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP8B3 Thr1104Met T1104M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10266 0.00204559 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - REXO1 His212Gln H212Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10570 0.000378429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - DOT1L Ala353Gly A353G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9570 0.000313479 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - C19ORF29 Arg63Gln R63Q not reviewed Insufficiently evaluated not reviewed unknown Array 113 9934 0.0113751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Thr589Ile T589I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10456 0.000669472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - FUT5 Pro195Ser P195S not reviewed Insufficiently evaluated not reviewed unknown Array 510 10432 0.048888 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DENND1C Arg489Cys R489C not reviewed Insufficiently evaluated not reviewed unknown Array rs35001260 140 9806 0.014277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - C3 Ser1619Arg S1619R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230210 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 3 - 3 N - - FCER2 Arg284Gln R284Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8102872 210 10746 0.0195422 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.661 - - 0 - 1 N - - MUC16 Glu10904Gly E10904G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK6 Gly1242Ser G1242S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10372 0.000482067 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF653 Glu352Lys E352K not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - CASP14 Stop243Glu X243E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ILVBL Ser198Leu S198L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - KIAA1683 Gln864Glu Q864E not reviewed Insufficiently evaluated not reviewed unknown Array 48 10752 0.00446428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF93 Thr273Asn T273N not reviewed Insufficiently evaluated not reviewed unknown Array 123 10754 0.0114376 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.327 - - 1 - 1 N - - ZNF93 Val390Ile V390I not reviewed Insufficiently evaluated not reviewed unknown Array rs62135329 384 10758 0.0356944 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RPSA Met10Ile M10I not reviewed Insufficiently evaluated not reviewed unknown Array rs34364867 8 70 0.114286 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - UPK1A Val153Leu V153L not reviewed Insufficiently evaluated not reviewed unknown Array rs34952797 43 10732 0.00400671 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - UPK1A Phe236Leu F236L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - NM_014727 Lys376Del K376Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_014727 Pro1826Leu P1826L not reviewed Insufficiently evaluated not reviewed unknown Array rs16970649 884 10006 0.088347 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FCGBP Gln2719His Q2719H not reviewed Insufficiently evaluated not reviewed unknown Array rs2542318 1004 10218 0.098258 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CYP2A13 Ala325Pro A325P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 2 - 2 N - - SPHK2 Pro49Leu P49L not reviewed Insufficiently evaluated not reviewed unknown Array rs45457791 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ACPT Pro368Leu P368L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF616 Ile765Val I765V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - ZNF610 Ser357Leu S357L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - LAIR2 Stop153Arg X153R not reviewed Insufficiently evaluated not reviewed unknown Array rs62131570 87 10756 0.00808851 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP6R1 Arg663Gln R663Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 9676 0.00403059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - UBE2S Pro188Leu P188L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9718 0.000411607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 7 Y 2 N - - ZNF550 Val8Ala V8A not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF417 Arg322Gly R322G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.25 - - 6 Y 1 N - - EMILIN1 Glu903Lys E903K not reviewed Insufficiently evaluated not reviewed unknown Array rs36045790 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - SLC5A6 Ile629Met I629M not reviewed Insufficiently evaluated not reviewed unknown Array rs41288805 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - C2ORF16 Ile767Thr I767T not reviewed Insufficiently evaluated not reviewed unknown Array rs13416968 88 9474 0.00928858 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF16 His1559Tyr H1559Y not reviewed Insufficiently evaluated not reviewed unknown Array rs13392197 102 9710 0.0105046 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THADA Arg1353Ser R1353S not reviewed Insufficiently evaluated not reviewed unknown Array rs56269749 41 9920 0.00413306 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - THADA Ser1340Del S1340Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRPPRC Ile560Leu I560L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - -2 - 3 N - - PREPL Leu28Val L28V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - STON1-GTF2A1L Val1036Gly V1036G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C2ORF86 Asn688Ser N688S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734468 132 9566 0.0137989 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTKN Gly119Cys G119C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - LOXL3 Arg375His R375H not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.925 - - 1 - 2 N - - AB290165 Ala1508Thr A1508T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KDM3A Cys417Phe C417F not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - FAHD2B Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array 812 10752 0.0755208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 7 Y 0 N - - C2ORF55 Ala378Val A378V not reviewed Insufficiently evaluated not reviewed unknown Array 242 9090 0.0266227 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL1RL2 Val108Glu V108E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 1 N - - ST6GAL2 Leu511Val L511V not reviewed Insufficiently evaluated not reviewed unknown Array rs34558933 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.426 - - 0 - 1 N - - RGPD4 Pro283Leu P283L not reviewed Insufficiently evaluated not reviewed unknown Array rs4012382 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMPD4 Phe4Leu F4L not reviewed Insufficiently evaluated not reviewed unknown Array 68 9664 0.00703642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZRANB3 Ser123Leu S123L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744510 398 9544 0.0417016 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - MARCH7 Thr100Ser T100S not reviewed Insufficiently evaluated not reviewed unknown Array rs17813964 634 10758 0.0589329 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 0 N - - LY75 Thr1393Ile T1393I not reviewed Insufficiently evaluated not reviewed unknown Array rs35941588 523 10758 0.048615 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - XIRP2 Arg2619Gln R2619Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 9776 0.00409165 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYBRD1 Arg226His R226H not reviewed Insufficiently evaluated not reviewed unknown Array rs62181680 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - NCKAP1 Gln561Arg Q561R not reviewed Insufficiently evaluated not reviewed unknown Array rs41270215 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHM3 Lys215Asn K215N not reviewed Insufficiently evaluated not reviewed unknown Array 111 9650 0.0115026 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - 1 - 2 N - - ZNF142 Ala1358Val A1358V not reviewed Insufficiently evaluated not reviewed unknown Array 146 10528 0.0138678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TUBA4B Arg182Cys R182C not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 1 N - - TUBA4B Thr222Met T222M not reviewed Insufficiently evaluated not reviewed unknown Array rs56105486 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.851 - - 2 - 1 N - - AGFG1 Val139Ala V139A not reviewed Insufficiently evaluated not reviewed unknown Array rs61752216 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - SLC16A14 Ala184Thr A184T not reviewed Insufficiently evaluated not reviewed unknown Array rs62191755 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKMY1 Asp89Asn D89N not reviewed Insufficiently evaluated not reviewed unknown Array rs35278753 209 10758 0.0194274 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.782 - - -1 - 1 N - - TRIB3 Arg153Cys R153C not reviewed Insufficiently evaluated not reviewed unknown Array rs45583743 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - LRRN4 Tyr549Asn Y549N not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PAK7 Arg335Pro R335P not reviewed Insufficiently evaluated not reviewed unknown Array rs11700112 885 10758 0.0822644 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - RIN2 Arg381Trp R381W not reviewed Insufficiently evaluated not reviewed unknown Array 11 9520 0.00115546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - NINL Leu1222Val L1222V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - ZNF337 Gln215Arg Q215R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - KIF3B Val435Ile V435I not reviewed Insufficiently evaluated not reviewed unknown Array rs41288638 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - DLGAP4 Leu112Arg L112R not reviewed Insufficiently evaluated not reviewed unknown Array rs41283436 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - ZHX3 Asn310Ser N310S not reviewed Insufficiently evaluated not reviewed unknown Array rs17265513 1486 10758 0.13813 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.314 - - 0 - 0 N - - CHD6 Ala1205Gly A1205G not reviewed Insufficiently evaluated not reviewed unknown Array rs41278126 343 10758 0.0318832 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.559 - - 1 - 1 N - - ZNF334 Arg275Cys R275C not reviewed Insufficiently evaluated not reviewed unknown Array rs41283032 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - NFATC2 Met449Val M449V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.921 - - 0 - 2 N - - ZNF217 Thr548Ile T548I not reviewed Insufficiently evaluated not reviewed unknown Array rs35720349 72 10758 0.00669269 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.256 - - 3 - 1 N - - LAMA5 Gly2156Glu G2156E not reviewed Insufficiently evaluated not reviewed unknown Array 304 10710 0.0283847 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - NM_001037335 Arg1652Gln R1652Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3827022 1438 10578 0.135943 8 0 13 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TTC3 Arg924His R924H not reviewed Insufficiently evaluated not reviewed unknown Array rs62223645 392 10758 0.036438 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - UMODL1 Val848Ile V848I not reviewed Insufficiently evaluated not reviewed unknown Array 6 124 0.0483871 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRTAP10-10 Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array rs1785472 45 10756 0.00418371 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIRA Pro849Leu P849L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 7 Y 0 N - - ZNF280B Thr354Ala T354A not reviewed Insufficiently evaluated not reviewed unknown Array rs41277495 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 1 - 0 N - - PRAME Arg263Cys R263C not reviewed Insufficiently evaluated not reviewed unknown Array rs41277505 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - TTC28 Ala1964Pro A1964P not reviewed Insufficiently evaluated not reviewed unknown Array rs9613558 6 126 0.047619 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM83F Gly353Ser G353S not reviewed Insufficiently evaluated not reviewed unknown Array rs35823589 504 10706 0.0470764 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR5-ARHGAP8 Arg436Ser R436S not reviewed Insufficiently evaluated not reviewed unknown Array rs41278891 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKDREJ Met638Val M638V not reviewed Insufficiently evaluated not reviewed unknown Array rs41302599 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.093 - - 0 - 0 N - - TTC38 Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 116 10668 0.0108736 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 2 N - - BRD1 Leu528Gln L528Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - MOV10L1 Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNB2 Val935Ile V935I not reviewed Insufficiently evaluated not reviewed unknown Array rs62621372 169 10166 0.016624 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - -4 - 0 N - - ADM2 Leu105Phe L105F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10234 0.000195427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 0 - 2 N - - TRAK1 Arg12Trp R12W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - NT5DC2 Tyr414His Y414H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3ORF49 Arg216Gln R216Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM86DP Gln150His Q150H not reviewed Insufficiently evaluated not reviewed unknown Array 5 116 0.0431034 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ROBO1 Ser1091Asn S1091N not reviewed Insufficiently evaluated not reviewed unknown Array rs35456279 478 10564 0.045248 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.032 - - 0 - 0 N - - HTR1F Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MINA Lys227Gln K227Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55907650 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - -2 - 1 N - - OR5H1 Thr38Ile T38I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - KIAA1524 Pro293Thr P293T not reviewed Insufficiently evaluated not reviewed unknown Array 154 10742 0.0143362 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 4 Y 0 N - - CASR Gly316Ser G316S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 2 - 1 N - - PARP15 Ala217Val A217V not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC14 Arg586Cys R586C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACAD9 Val489Ile V489I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - CLSTN2 Ile306Asn I306N not reviewed Insufficiently evaluated not reviewed unknown Array rs41265459 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - TRIM42 Thr563Ser T563S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RASA2 Asn146Ser N146S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 1 N - - PLSCR4 Gly3Asp G3D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGSF10 Thr1266Ser T1266S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - LXN Val16Met V16M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.946 - - 0 - 2 N - - SI Pro529Ser P529S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC39 Thr182Ser T182S not reviewed Insufficiently evaluated not reviewed unknown Array rs112738198 229 9488 0.0241357 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - GAK Asp787Tyr D787Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34585705 108 10748 0.0100484 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - TMEM175 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - SLBP Arg69Cys R69C not reviewed Insufficiently evaluated not reviewed unknown Array rs41286667 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 8 Y 2 N - - HAUS3 Arg399Gln R399Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10754 0.00269667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - STX18 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CYTL1 Arg136Cys R136C not reviewed Insufficiently evaluated not reviewed unknown Array rs11722554 343 10758 0.0318832 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - SORCS2 Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array rs34058821 346 10012 0.0345585 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - NCAPG Glu858Lys E858K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 2 N - - BC157885 Gly26Arg G26R not reviewed Insufficiently evaluated not reviewed unknown Array rs16992035 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK055055 Lys56Del K56Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SHROOM3 Glu563Ala E563A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SHROOM3 Thr1011Asn T1011N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - FRAS1 Ala1041Thr A1041T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FRAS1 Ala1791Thr A1791T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FRAS1 Val3518Leu V3518L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - RASGEF1B Glu145Lys E145K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - PTPN13 Gly1063Glu G1063E not reviewed Insufficiently evaluated not reviewed unknown Array rs61757792 48 9564 0.00501882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.818 - - 6 Y 1 N - - NAP1L5 Glu143Lys E143K not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPRIN3 Ile468Val I468V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM190A Leu349Ile L349I not reviewed Insufficiently evaluated not reviewed unknown Array rs72659490 66 9640 0.00684647 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - ANK2 Val2686Ala V2686A not reviewed Insufficiently evaluated not reviewed unknown Array rs56095304 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC7A11 Pro136Ser P136S not reviewed Insufficiently evaluated not reviewed unknown Array rs34757167 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - 3 - 1 N - - FAM198B Asp405Gly D405G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - FSTL5 Gly193Glu G193E not reviewed Insufficiently evaluated not reviewed unknown Array rs72689202 192 10746 0.0178671 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - C4ORF39 Cys4Phe C4F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6 Thr181Ile T181I not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - OXCT1 Ala215Val A215V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.878 Y - 2 - 3 N - - TAF9 Thr6Met T6M not reviewed Insufficiently evaluated not reviewed unknown Array rs4252233 145 10718 0.0135286 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BDP1 Ser213Leu S213L not reviewed Insufficiently evaluated not reviewed unknown Array 33 9410 0.00350691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF366 Val269Phe V269F not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - GFM2 Met763Val M763V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 0 - 1 N - - SV2C Ser332Phe S332F not reviewed Insufficiently evaluated not reviewed unknown Array 55 10504 0.0052361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CMYA5 Asn4024Asp N4024D not reviewed Insufficiently evaluated not reviewed unknown Array 129 10166 0.0126894 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR2F1 Leu282Pro L282P not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ZNF608 Arg736Leu R736L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC092501 Val103Ala V103A not reviewed Insufficiently evaluated not reviewed unknown Array rs2287963 23 82 0.280488 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PCDHB2 Leu674Pro L674P not reviewed Insufficiently evaluated not reviewed unknown Array rs71574501 6 86 0.0697674 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CSF1R Gly747Arg G747R not reviewed Insufficiently evaluated not reviewed unknown Array rs41355444 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 6 Y 1 N - - CD74 Ala222Val A222V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10628 0.000188182 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - HAVCR2 Cys110Trp C110W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ODZ2 Cys20Arg C20R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - 8 Y 0 N - - WWC1 Asn606Ser N606S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730019 349 10758 0.032441 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF4E1B Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10364 0.00357005 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 2 N - - AX747879 Arg118His R118H not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC032356 Ser6Leu S6L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744084 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - JARID2 Leu147Phe L147F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - HIST1H1D Thr4Ser T4S not reviewed Insufficiently evaluated not reviewed unknown Array rs41266815 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - BTN3A2 Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array rs12205731 718 10758 0.066741 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BTN3A3 Gly421Val G421V not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - ZNF192 Gln407Arg Q407R not reviewed Insufficiently evaluated not reviewed unknown Array rs62620226 417 10758 0.0387619 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - DHX16 Asn414Asp N414D not reviewed Insufficiently evaluated not reviewed unknown Array rs35836922 36 7524 0.00478469 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSH5 Pro239Thr P239T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DRB5 Lys14Ala K14A not reviewed Insufficiently evaluated not reviewed unknown Array rs71535444 1 20 0.05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIFC1 Gly381Glu G381E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - SCUBE3 Gly65Ser G65S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ETV7 Ala250Val A250V not reviewed Insufficiently evaluated not reviewed unknown Array rs2234080 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - TMEM217 Val86Ala V86A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF130 Ile14Val I14V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TREML2 Val84Ala V84A not reviewed Insufficiently evaluated not reviewed unknown Array rs62396355 12 122 0.0983607 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TREML2 Asp82Gly D82G not reviewed Insufficiently evaluated not reviewed unknown Array rs35260020 12 120 0.1 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 1 N - - CUL9 Gly530Ala G530A not reviewed Insufficiently evaluated not reviewed unknown Array rs61739483 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CUL9 Gln1653Glu Q1653E not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - -2 - 0 N - - GPR111 Lys165Arg K165R not reviewed Insufficiently evaluated not reviewed unknown Array 119 10086 0.0117985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ICK ProSerProLeu369Del PSPL369Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DST Asp4047Asn D4047N not reviewed Insufficiently evaluated not reviewed unknown Array rs41271862 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO6 Thr845Ile T845I not reviewed Insufficiently evaluated not reviewed unknown Array rs55662069 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BACH2 Leu291Val L291V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754114 235 10758 0.0218442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - FAM184A His841Leu H841L not reviewed Insufficiently evaluated not reviewed unknown Array rs41292558 54 9686 0.00557506 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 6 Y 1 N - - ENPP1 Arg722Cys R722C not reviewed Insufficiently evaluated not reviewed unknown Array rs28933977 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TAAR6 Tyr173His Y173H not reviewed Insufficiently evaluated not reviewed unknown Array rs41298397 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - - -1 - 0 N - - TAAR5 Ser95Pro S95P not reviewed Insufficiently evaluated not reviewed unknown Array rs41286168 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - PLEKHG1 Val1147Met V1147M not reviewed Insufficiently evaluated not reviewed unknown Array rs41289351 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.563 - - 0 - 1 N - - AKAP12 Ala1182Thr A1182T not reviewed Insufficiently evaluated not reviewed unknown Array rs41289373 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - 1 - 1 N - - KIF25 His192Gln H192Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6928620 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - C6ORF70 His371Arg H371R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738268 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF28B Glu214Asp E214D not reviewed Insufficiently evaluated not reviewed unknown Array rs62441857 1671 10498 0.159173 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - COL28A1 Tyr135His Y135H not reviewed Insufficiently evaluated not reviewed unknown Array 70 9774 0.00716186 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ANLN Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61737563 8 126 0.0634921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AEBP1 Val1148Ile V1148I not reviewed Insufficiently evaluated not reviewed unknown Array rs13898 300 10758 0.0278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HPVC1 Pro24Leu P24L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FKBP9L Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 12 128 0.09375 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CCDC146 Arg589His R589H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHTF2 Thr247Asn T247N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA3E Ser524Asn S524N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AKAP9 Ser27Leu S27L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM200A Arg118Pro R118P not reviewed Insufficiently evaluated not reviewed unknown Array rs61998164 47 8320 0.00564904 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - TRIP6 Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2437100 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - DOCK4 Ser1926Leu S1926L not reviewed Insufficiently evaluated not reviewed unknown Array rs34597439 252 9500 0.0265263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBM28 Met384Leu M384L not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -3 - 0 N - - NM_001126311 Arg75Thr R75T not reviewed Insufficiently evaluated not reviewed unknown Array rs73157989 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NOBOX Gly152Arg G152R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GIMAP2 Val74Phe V74F not reviewed Insufficiently evaluated not reviewed unknown Array rs11558054 205 10758 0.0190556 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - DLGAP2 Asp125Asn D125N not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - MTMR7 Ser583Arg S583R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDCA2 Asn885His N885H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF13B Arg1777Cys R1777C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9060 0.000110375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - KIF13B Val1471Ile V1471I not reviewed Insufficiently evaluated not reviewed unknown Array rs17526980 223 9784 0.0227923 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GOT1L1 Leu138Val L138V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735752 254 10124 0.0250889 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM32 Asn512Ser N512S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - PTTG3P Ile43Lys I43K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZFHX4 Pro2424Leu P2424L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729528 68 10308 0.00659682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 7 Y 2 N - - NM_001089588 Ile210Thr I210T not reviewed Insufficiently evaluated not reviewed unknown Array 5 124 0.0403226 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IMPA1 Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - LRRCC1 Leu780Pro L780P not reviewed Insufficiently evaluated not reviewed unknown Array 38 9464 0.00401522 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - CA13 Thr178Ala T178A not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - SLC26A7 Val455Met V455M not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - SLC25A32 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array rs17803441 646 10758 0.0600483 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ANGPT1 Thr257Lys T257K not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.684 - - 3 - 1 N - - FER1L6 Ala840Thr A840T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10222 0.00567404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - ADCY8 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228949 193 9118 0.0211669 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAPPC9 Val982Phe V982F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHPN1 Ser663Thr S663T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10272 0.000292056 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.565 - - -2 - 1 N - - ZC3H3 Arg528Trp R528W not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.876 - - 7 Y 2 N - - PYCRL Lys150Asn K150N not reviewed Insufficiently evaluated not reviewed unknown Array rs2242090 25 116 0.215517 14 0 17 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPPK1 Arg2190Cys R2190C not reviewed Insufficiently evaluated not reviewed unknown Array rs11781942 8 102 0.0784314 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - EPPK1 Tyr719Cys Y719C not reviewed Insufficiently evaluated not reviewed unknown Array rs12543389 9 114 0.0789474 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLEC Arg1386Gln R1386Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11136334 3067 10084 0.304145 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KANK1 Asn100Del N100Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KDM4C Arg893Trp R893W not reviewed Insufficiently evaluated not reviewed unknown Array rs41304753 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FREM1 Lys1788Glu K1788E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.93 - - 0 - 2 N - - SNAPC3 Glu398Ala E398A not reviewed Insufficiently evaluated not reviewed unknown Array rs3087653 462 10758 0.0429448 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - BNC2 Lys128Thr K128T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TAF1L Lys1731Asn K1731N not reviewed Insufficiently evaluated not reviewed unknown Array rs34241003 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - ANXA2 Lys80Glu K80E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF24 Leu1206Arg L1206R not reviewed Insufficiently evaluated not reviewed unknown Array rs41274039 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - C9ORF131 Tyr834His Y834H not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GCNT1 Ser158Cys S158C not reviewed Insufficiently evaluated not reviewed unknown Array rs11546569 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC027471 Arg55Trp R55W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEMA4D Pro703Ser P703S not reviewed Insufficiently evaluated not reviewed unknown Array rs62638726 524 10758 0.0487079 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SEMA4D Gly592Asp G592D not reviewed Insufficiently evaluated not reviewed unknown Array rs45464494 668 10758 0.0620933 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BICD2 Asp417Gly D417G not reviewed Insufficiently evaluated not reviewed unknown Array rs55658812 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ANKS6 Asn522Ser N522S not reviewed Insufficiently evaluated not reviewed unknown Array 29 9952 0.00291399 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0368 Pro103Ser P103S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ORM2 Phe144Val F144V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - PAPPA Pro1351Ala P1351A not reviewed Insufficiently evaluated not reviewed unknown Array rs55679739 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GGTA1 Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - Y 7 Y 2 N - - GOLGA2 Arg750Ser R750S not reviewed Insufficiently evaluated not reviewed unknown Array rs41276654 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRUB2 Arg131His R131H not reviewed Insufficiently evaluated not reviewed unknown Array rs41306706 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - SH3GLB2 Ala305Val A305V not reviewed Insufficiently evaluated not reviewed unknown Array rs17455482 16 10652 0.00150206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP20 Ala356Val A356V not reviewed Insufficiently evaluated not reviewed unknown Array rs41279152 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CEL Met502Arg M502R not reviewed Insufficiently evaluated not reviewed unknown Array rs34064957 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RALGDS Ile724Leu I724L not reviewed Insufficiently evaluated not reviewed unknown Array rs34170541 223 10470 0.0212989 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SNAPC4 Val768Ile V768I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10732 0.00204994 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - MAN1B1 Leu665Phe L665F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.315 - - 0 - 1 N - - CRLF2 Val136Met V136M not reviewed Insufficiently evaluated not reviewed unknown Array 228 10336 0.0220588 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARSH Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - WWC3 Arg949Cys R949C not reviewed Insufficiently evaluated not reviewed unknown Array rs56399961 26 8761 0.0029677 2 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ASB11 Ser165Leu S165L not reviewed Insufficiently evaluated not reviewed unknown Array 7 8761 0.000798995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.901 - - 6 Y 2 N - - TXLNG Ile246Val I246V not reviewed Insufficiently evaluated not reviewed unknown Array rs5969783 180 8761 0.0205456 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DCAF8L1 Gln349Lys Q349K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - -2 - 1 N - - P2RY4 Thr176Ala T176A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 1 - 2 N - - PGAM4 Arg86His R86H not reviewed Insufficiently evaluated not reviewed unknown Array rs62621209 412 8628 0.0477515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - TSPAN6 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array rs1802288 1038 8756 0.118547 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.318 - - 1 - 0 N - - DOCK11 His113Asp H113D not reviewed Insufficiently evaluated not reviewed unknown Array 16 8761 0.00182628 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - GPR112 Thr1204Ser T1204S not reviewed Insufficiently evaluated not reviewed unknown Array 37 8761 0.00422326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC042039 Ile129Thr I129T not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGEC2 Ile310Thr I310T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - MAMLD1 Pro359Ser P359S not reviewed Insufficiently evaluated not reviewed unknown Array rs41313406 4 92 0.0434783 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR50 Thr502Ile T502I not reviewed Insufficiently evaluated not reviewed unknown Array 560 7947 0.0704668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNASE1L1 Val122Ile V122I not reviewed Insufficiently evaluated not reviewed unknown Array rs34952165 275 8761 0.0313891 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GAB3 Pro238Ser P238S not reviewed Insufficiently evaluated not reviewed unknown Array rs17281349 352 8761 0.0401781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALPL Leu506Ile L506I not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - NM_001093732 Arg87Stop R87X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC127741 Glu39Stop E39X not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RPTN Gly290Shift G290Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - F5 Leu1276Ile L1276I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - THNSL1 Pro408Shift P408Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APBB1IP Lys661Shift K661Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHAT Arg561Gln R561Q not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 2 0 2 1 1 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - Reported to cause severe autosomal recessive osteopetrosis CHAT Arg628Gln R628Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 0 - 4 N - - H19 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SBF2 Arg356Gln R356Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - OR5B3 Phe31Shift F31Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TM7SF2 Phe185Shift F185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATM Phe858Leu F858L not reviewed Insufficiently evaluated not reviewed unknown Array rs1800056 98 10758 0.0091095 1 0 1 1 1 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - colorectal cancer ATM Pro1054Arg P1054R not reviewed Insufficiently evaluated not reviewed unknown Array rs1800057 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - VWF Arg924Gln R924Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33978901 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 0 - 4 N - - SCNN1A Arg181Trp R181W not reviewed Insufficiently evaluated not reviewed unknown Array rs55797039 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.942 Y - 7 Y 3 N - - KRT83 Glu201Stop E201X not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - DQ866763 Leu260Shift L260Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ866763 Val17Shift V17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCM Ile356Thr I356T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 3 - 2 N - - FMN1 Pro683Leu P683L not reviewed Insufficiently evaluated not reviewed unknown Array rs117804335 377 9868 0.0382043 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 3 N - - DUOX2 Cys1052Tyr C1052Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - EME2 Gln387Stop Q387X not reviewed Insufficiently evaluated not reviewed unknown Array rs61753375 113 10670 0.0105904 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PKD1 Thr2322Met T2322M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 2 - 2 N - - NM_018690 Val673Shift V673Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC144B Gly709Shift G709Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAP2K2 Thr396Met T396M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y 2 - 4 N - - ADAMTS10 Arg62Gln R62Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62621197 338 10738 0.031477 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.023 Y Y 0 - 2 N - - ZNF563 Trp208Shift W208Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1A Gly1107Ser G1107S not reviewed Insufficiently evaluated not reviewed unknown Array rs16027 9 126 0.0714286 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - RYR1 Pro1787Leu P1787L not reviewed Insufficiently evaluated not reviewed unknown Array rs34934920 174 10752 0.016183 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.018 Y Y 7 Y 2 N - - RYR1 Gly2060Cys G2060C not reviewed Insufficiently evaluated not reviewed unknown Array rs35364374 548 10758 0.0509388 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.345 Y Y 7 Y 2 N - - PRX LysGly978Glu KG978E not reviewed Insufficiently evaluated not reviewed unknown Array 1 24 0.0416667 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DHDH Gln233Stop Q233X not reviewed Insufficiently evaluated not reviewed unknown Array rs10423255 640 10758 0.0594906 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MYBPC2 Ile937Shift I937Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC025349 Val94Shift V94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APOB Arg3136Cys R3136C not reviewed Insufficiently evaluated not reviewed unknown Array rs72653102 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - APLF Arg510Shift R510Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FASTKD1 Ser768Stop S768X not reviewed Insufficiently evaluated not reviewed unknown Array rs34291832 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Arg32282Gln R32282Q not reviewed Insufficiently evaluated not reviewed unknown Array rs68080670 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NAB1 Thr224Shift T224Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALS2CR11 Asn1195Shift N1195Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CXCR2 Leu262Shift L262Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHRND Ile199Val I199V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -4 - 2 N - - NF2 Lys523Shift K523Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TRIOBP Ser540Del S540Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71700469 10 88 0.113636 8 0 8 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 1 N - - CYP2D6 Trp152Shift W152Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5030655 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SATB1 Pro634Stop P634X not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GBE1 Arg679Cys R679C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 8 Y 2 N - - C3ORF46 Gly36Shift G36Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HTT Gly893Arg G893R not reviewed Insufficiently evaluated not reviewed unknown Array rs363075 436 9592 0.0454545 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - HTT Val1064Ile V1064I not reviewed Insufficiently evaluated not reviewed unknown Array rs35892913 447 10084 0.0443276 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - HTT Glu2643Del E2643Del not reviewed Insufficiently evaluated not reviewed unknown Array rs67580862 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CNGA1 Ser320Phe S320F not reviewed Insufficiently evaluated not reviewed unknown Array rs62625014 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - NUP54 Leu297Shift L297Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FRAS1 Gly935Arg G935R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HLA-DQA1 Ser75Arg S75R not reviewed Insufficiently evaluated not reviewed unknown Array rs3207985 442 9484 0.0466048 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - HLA-DQA1 Lys76Arg K76R not reviewed Insufficiently evaluated not reviewed unknown Array rs12722069 444 9486 0.0468058 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - HLA-DQA1 Gly78Arg G78R not reviewed Insufficiently evaluated not reviewed unknown Array rs4193 1728 9472 0.182432 2 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - HLA-DQA1 Gly79Arg G79R not reviewed Insufficiently evaluated not reviewed unknown Array rs12722072 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - USP49 Asp636Shift D636Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNE1 Lys4121Ser K4121S not reviewed Insufficiently evaluated not reviewed unknown Array rs28385621 12 126 0.0952381 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SLC22A1 Met420Del M420Del not reviewed Insufficiently evaluated not reviewed unknown Array rs35191146 12 128 0.09375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CFTR Ile371Thr I371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - BRAF Gly6Asp G6D not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 4 Y 2 N - - NUDT18 Pro35Shift P35Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66848711 16 18 0.888889 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP7B1 Asn105Shift N105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - CNGB3 Asn27Ser N27S not reviewed Insufficiently evaluated not reviewed unknown Array rs35807406 184 10758 0.0171035 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RECQL4 Val799Met V799M not reviewed Insufficiently evaluated not reviewed unknown Array rs34293591 167 9842 0.0169681 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RECQL4 Glu407Lys E407K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTC39B Tyr144Shift Y144Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1045 Ser352Shift S352Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 60 0.0833333 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RP2 Arg282Trp R282W not reviewed Insufficiently evaluated not reviewed unknown Array rs1805147 200 8761 0.0228284 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - 7 Y 1 N - - AGRN Val1447Met V1447M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C1ORF159 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBE2J2 Arg47Gln R47Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 876 0.00684932 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AURKAIP1 Gln158Arg Q158R not reviewed Insufficiently evaluated not reviewed unknown Array 121 10750 0.0112558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ATAD3C Arg131Trp R131W not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - KIAA1751 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72636304 56 10112 0.00553797 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.623 - - 0 - 1 N - - MASP2 Asp120Gly D120G not reviewed Insufficiently evaluated not reviewed unknown Array rs72550870 216 10758 0.0200781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH4A1 Pro411Ser P411S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.174 Y - 3 - 1 N - - PLA2G2F Thr185Met T185M not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP48 Ala897Ser A897S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSPG2 Ala4328Thr A4328T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ZBTB40 Ala225Thr A225T not reviewed Insufficiently evaluated not reviewed unknown Array rs6659222 126 10538 0.0119567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB40 Glu1237Asp E1237D not reviewed Insufficiently evaluated not reviewed unknown Array rs45502998 274 10758 0.0254694 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 0 N - - TMEM50A Ala58Val A58V not reviewed Insufficiently evaluated not reviewed unknown Array rs3093647 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MACF1 Ala5111Ser A5111S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0467 Val612Ile V612I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.437 - - -4 - 1 N - - MKNK1 Asp308Asn D308N not reviewed Insufficiently evaluated not reviewed unknown Array rs55791614 60 10710 0.00560224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - HFM1 Leu832His L832H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747691 Met140Ile M140I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CELSR2 Gln126Lys Q126K not reviewed Insufficiently evaluated not reviewed unknown Array rs62623708 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - PDE4DIP Arg1466Gly R1466G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - FCGR1C Lys171Met K171M not reviewed Insufficiently evaluated not reviewed unknown Array rs658149 4 110 0.0363636 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGR1C His175Arg H175R not reviewed Insufficiently evaluated not reviewed unknown Array rs658160 4 110 0.0363636 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKLR Val245Ile V245I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - DAP3 Glu375Del E375Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RAB25 Glu20Gly E20G not reviewed Insufficiently evaluated not reviewed unknown Array rs61751627 60 10470 0.00573066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - NES Glu609Gln E609Q not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - ETV3L Ser32Leu S32L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730132 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ARHGAP30 Gly639Arg G639R not reviewed Insufficiently evaluated not reviewed unknown Array rs36089872 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TADA1 Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2272792 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SELE Ser149Arg S149R not reviewed Insufficiently evaluated not reviewed unknown Array rs5361 899 10758 0.0835657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 1 N - - C1ORF112 Ala481Ser A481S not reviewed Insufficiently evaluated not reviewed unknown Array rs2272920 767 10758 0.0712958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SCYL3 Gly597Ala G597A not reviewed Insufficiently evaluated not reviewed unknown Array rs12143301 756 10758 0.0702733 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.113 - - 1 - 0 N - - METTL11B Ile127Met I127M not reviewed Insufficiently evaluated not reviewed unknown Array rs41272485 119 3234 0.0367965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RC3H1 Val146Ala V146A not reviewed Insufficiently evaluated not reviewed unknown Array rs72711434 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.251 - - 2 - 1 N - - CEP350 Pro923Ser P923S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - RNASEL Ile101Thr I101T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 3 - 3 N - - PTPRC Leu1180Ser L1180S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - UBE2T Pro58Ala P58A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - TMEM183B Arg10Met R10M not reviewed Insufficiently evaluated not reviewed unknown Array 70 7524 0.00930356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPFIA4 Gly1281Ser G1281S not reviewed Insufficiently evaluated not reviewed unknown Array rs12130501 169 9614 0.0175785 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPS6KC1 Ala407Val A407V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SPATA17 Met165Ile M165I not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - -1 - 2 N - - NVL Ser853Pro S853P not reviewed Insufficiently evaluated not reviewed unknown Array rs41271483 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - TMEM63A Ile202Thr I202T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - PRSS38 Ala31Thr A31T not reviewed Insufficiently evaluated not reviewed unknown Array rs41315595 269 10758 0.0250046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM17 Gln71Glu Q71E not reviewed Insufficiently evaluated not reviewed unknown Array rs61758089 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - -2 - 1 N - - FMN2 Thr1007Ala T1007A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP1LC3C Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array rs55813237 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL15RA Thr111Met T111M not reviewed Insufficiently evaluated not reviewed unknown Array rs41294171 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 1 N - - HSPA14 Pro264Leu P264L not reviewed Insufficiently evaluated not reviewed unknown Array rs41284449 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CUBN Gly3114Ser G3114S not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - OTUD1 Ser326Cys S326C not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - DQ575272 Leu134Phe L134F not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 0 - 1 N - - C10ORF71 His92Tyr H92Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RHOBTB1 Thr588Met T588M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTKN2 His238Tyr H238Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - RGR Met203Val M203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYOF Asp342Asn D342N not reviewed Insufficiently evaluated not reviewed unknown Array rs41290202 119 9906 0.0120129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - NOC3L Phe736Ser F736S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - CYP2C8 Ile264Met I264M not reviewed Insufficiently evaluated not reviewed unknown Array rs56489507 434 10758 0.0403421 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.951 - - -1 - 2 N - - SORBS1 Arg1121His R1121H not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PI4K2A Val444Ile V444I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - -4 - 1 N - - CWF19L1 Phe164Cys F164C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 4 Y 1 N - - FAM178A Val800Phe V800F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - TLX1 Ala128Thr A128T not reviewed Insufficiently evaluated not reviewed unknown Array 155 8472 0.0182956 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SFXN2 Trp45Gly W45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.908 - - 7 Y 2 N - - PDCD11 Val899Ala V899A not reviewed Insufficiently evaluated not reviewed unknown Array rs61751511 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - TACC2 Arg948Trp R948W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - DMBT1 Gly1580Arg G1580R not reviewed Insufficiently evaluated not reviewed unknown Array 4 9968 0.000401284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FANK1 Leu329Val L329V not reviewed Insufficiently evaluated not reviewed unknown Array rs1666 202 10758 0.0187767 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 0 - 2 N - - MKI67 Arg3013Leu R3013L not reviewed Insufficiently evaluated not reviewed unknown Array 502 10758 0.0466629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - KNDC1 Arg887Lys R887K not reviewed Insufficiently evaluated not reviewed unknown Array 107 10576 0.0101172 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.018 - - -3 - 0 N - - AK160367 Gly206Ala G206A not reviewed Insufficiently evaluated not reviewed unknown Array rs731946 5 110 0.0454545 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNH1 Arg110Cys R110C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10736 0.00447094 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.89 - - 8 Y 2 N - - PHRF1 Ala1547Val A1547V not reviewed Insufficiently evaluated not reviewed unknown Array rs35482931 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.114 - - 2 - 0 N - - TMEM80 Thr67Met T67M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Thr1946Asn T1946N not reviewed Insufficiently evaluated not reviewed unknown Array rs41376152 219 10420 0.0210173 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51A2 Asp72Asn D72N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 2 N - - OR51A2 Met67Thr M67T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - OR51Q1 Met67Ile M67I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - OR52N2 Leu310Ser L310S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - DNHD1 Ala144Ser A144S not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GVINP1 Pro1790Arg P1790R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPON1 Leu661Phe L661F not reviewed Insufficiently evaluated not reviewed unknown Array rs34612495 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OTOG Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11024333 12 128 0.09375 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MRGPRX2 Ser313Arg S313R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - SLC6A5 Pro46Arg P46R not reviewed Insufficiently evaluated not reviewed unknown Array rs12364685 6 8368 0.000717017 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 - Y 5 Y 1 N - - LGR4 Asp844Gly D844G not reviewed Insufficiently evaluated not reviewed unknown Array rs34804482 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR10AG1 Leu176Pro L176P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - 7 Y 1 N - - OR5F1 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OR5T3 Lys34Gln K34Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - OR8J1 Ile83Met I83M not reviewed Insufficiently evaluated not reviewed unknown Array rs62001034 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC43A3 Thr134Pro T134P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 4 Y 1 N - - BC157854 Glu352Gly E352G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 6 Y 2 N - - LPXN Met285Val M285V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - C11ORF9 Arg920His R920H not reviewed Insufficiently evaluated not reviewed unknown Array rs61747222 199 10758 0.0184979 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAF6L Thr24Met T24M not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 2 - 0 N - - KCNK4 Ser195Gly S195G not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF85 Phe110Leu F110L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAPN1 Ala262Asp A262D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10272 0.000389408 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 5 Y 2 N - - RELA Asp291Asn D291N not reviewed Insufficiently evaluated not reviewed unknown Array rs61759893 32 10750 0.00297674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.771 - - -1 - 1 N - - RHOD Arg144Gln R144Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34270544 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - TBC1D10C Asp222Cys D222C not reviewed Insufficiently evaluated not reviewed unknown Array 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C11ORF24 Ala242Val A242V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ODZ4 Asn965Ser N965S not reviewed Insufficiently evaluated not reviewed unknown Array 55 10028 0.00548464 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - FAT3 Leu958Pro L958P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CASP5 Lys3Asn K3N not reviewed Insufficiently evaluated not reviewed unknown Array rs45483102 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPAT Ser726Del S726Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KDELC2 Pro144Leu P144L not reviewed Insufficiently evaluated not reviewed unknown Array 153 9906 0.0154452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - HTR3B Leu323Val L323V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - HTR3A Ala33Thr A33T not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - IL10RA Ser420Leu S420L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229114 361 10758 0.0335564 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - PANX3 Gly95Arg G95R not reviewed Insufficiently evaluated not reviewed unknown Array rs34498516 221 10758 0.0205429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SNX19 Pro249Ser P249S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - GLB1L2 Gly203Asp G203D not reviewed Insufficiently evaluated not reviewed unknown Array rs61740182 250 10758 0.0232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - KDM5A Asp905Tyr D905Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC073935 Pro24Arg P24R not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - A2ML1 Glu1149Lys E1149K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - PZP Ala695Pro A695P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLEC12A Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLEC1B Met222Lys M222K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 4 Y 2 N - - GPRC5A Thr182Ala T182A not reviewed Insufficiently evaluated not reviewed unknown Array rs12368599 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - SRSF2IP Arg1078Pro R1078P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MLL2 Ser2251Leu S2251L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9792 0.000714869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAIM2 Val120Ile V120I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - OR6C74 Pro227Ser P227S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - PAN2 Arg571His R571H not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - MARS Pro206Leu P206L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - 7 Y 2 N - - TBK1 Asp727Val D727V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 8 Y 2 N - - GALNT4 Gln516Lys Q516K not reviewed Insufficiently evaluated not reviewed unknown Array 55 9544 0.00576278 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - LUM Ser17Gly S17G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 1 N - - STAB2 Asp2021Asn D2021N not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - -1 - 2 N - - C12ORF45 Asp19His D19H not reviewed Insufficiently evaluated not reviewed unknown Array rs117368247 177 9964 0.0177639 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSH1 Thr678Ile T678I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - USP30 His348Arg H348R not reviewed Insufficiently evaluated not reviewed unknown Array rs16939904 7 128 0.0546875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ACACB Pro2253Ser P2253S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT81 Gln252Arg Q252R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - TRAFD1 Glu303Ala E303A not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - MMP17 Val560Ile V560I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10698 0.00345859 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - DQ866763 Ser259Cys S259C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQ866763 ValCysLeu251IleHisPro VCL251IHP not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DQ866763 Ser247Pro S247P not reviewed Insufficiently evaluated not reviewed unknown Array 6 60 0.1 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DQ866763 Ser197Asn S197N not reviewed Insufficiently evaluated not reviewed unknown Array 2 66 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ866763 Leu196Phe L196F not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD8 Val509Met V509M not reviewed Insufficiently evaluated not reviewed unknown Array 8 9534 0.000839102 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10G3 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TRAJ17 Asn31Lys N31K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GMPR2 Gly242Asp G242D not reviewed Insufficiently evaluated not reviewed unknown Array rs34354104 375 10570 0.0354778 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - SDR39U1 Gly181Val G181V not reviewed Insufficiently evaluated not reviewed unknown Array rs11538256 161 9788 0.0164487 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF126 Leu57Pro L57P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF106 Val621Ile V621I not reviewed Insufficiently evaluated not reviewed unknown Array 253 10746 0.0235436 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SOS2 Pro1318Ser P1318S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF37 Glu335Asp E335D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741193 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF149 Leu120Arg L120R not reviewed Insufficiently evaluated not reviewed unknown Array rs34741399 445 10200 0.0436274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RDH11 Glu79Lys E79K not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - LTBP2 Ser734Met S734M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALKBH1 Met135Ile M135I not reviewed Insufficiently evaluated not reviewed unknown Array rs17825440 204 10758 0.0189626 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - -1 - 1 N - - SEL1L Val714Ile V714I not reviewed Insufficiently evaluated not reviewed unknown Array rs1051193 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - PTPN21 Gly790Arg G790R not reviewed Insufficiently evaluated not reviewed unknown Array rs3825676 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF49 Lys700Asn K700N not reviewed Insufficiently evaluated not reviewed unknown Array rs61754461 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCL6 Arg68Gly R68G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATG2B Arg402His R402H not reviewed Insufficiently evaluated not reviewed unknown Array 47 9550 0.00492147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JAG2 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 9768 0.00102375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGHG1 Leu107Met L107M not reviewed Insufficiently evaluated not reviewed unknown Array rs11621259 6 52 0.115385 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - IGHG1 Asp105Glu D105E not reviewed Insufficiently evaluated not reviewed unknown Array rs1045853 6 52 0.115385 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ATP10A Arg999His R999H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - TJP1 Ala559Gly A559G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9660 0.000310559 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - RYR3 Ala27Thr A27T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - C15ORF53 Ala39Val A39V not reviewed Insufficiently evaluated not reviewed unknown Array rs11857596 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THBS1 Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZFYVE19 Pro11Leu P11L not reviewed Insufficiently evaluated not reviewed unknown Array 571 10544 0.054154 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.894 - - 7 Y 1 N - - PLA2G4E Glu662Lys E662K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10500 0.00152381 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP106 Gln1128Arg Q1128R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - USP8 Leu268Ile L268I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751062 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - -2 - 2 N - - RFX7 ProThr964Del PT964Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GCOM1 Leu58Pro L58P not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LACTB Ala338Thr A338T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - HERC1 Gly1125Asp G1125D not reviewed Insufficiently evaluated not reviewed unknown Array 22 9914 0.00221908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - ZWILCH Glu94Lys E94K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - PAQR5 Pro7Arg P7R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - NR2E3 Val351Ala V351A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - NEO1 Gly968Arg G968R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - EDC3 Val25Arg V25R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_024776 Arg1572Trp R1572W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF592 Arg350His R350H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737677 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLHL25 Met257Leu M257L not reviewed Insufficiently evaluated not reviewed unknown Array rs36031133 196 10758 0.018219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.299 - - -3 - 1 N - - PDIA2 Arg473Gln R473Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 10190 0.00667321 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - CACNA1H Met2312Val M2312V not reviewed Insufficiently evaluated not reviewed unknown Array rs58535913 13 9544 0.00136211 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - UNKL Ile259Val I259V not reviewed Insufficiently evaluated not reviewed unknown Array 4 122 0.0327869 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TELO2 Cys367Phe C367F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ABCA3 Arg288Lys R288K not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - C16ORF59 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 40 9800 0.00408163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSM5 Lys386Thr K386T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - VWA3A Thr726Lys T726K not reviewed Insufficiently evaluated not reviewed unknown Array rs61744122 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBC1D10B Ile239Leu I239L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ITGAD Arg282Cys R282C not reviewed Insufficiently evaluated not reviewed unknown Array rs45625038 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYLD Asp253Gly D253G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - KATNB1 Ala453Phe A453F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SETD6 Gln363Arg Q363R not reviewed Insufficiently evaluated not reviewed unknown Array rs35087114 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOB1 Gly193Trp G193W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 7 Y 0 N - - HP Asp70Asn D70N not reviewed Insufficiently evaluated not reviewed unknown Array rs1140430 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - HP Lys71Glu K71E not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - PKD1L2 Ser2026Ile S2026I not reviewed Insufficiently evaluated not reviewed unknown Array 47 9878 0.00475805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKD1L2 Arg961Gln R961Q not reviewed Insufficiently evaluated not reviewed unknown Array 81 10566 0.0076661 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLCG2 Asn798Ser N798S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9964 0.000501806 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SDR42E1 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array 22 9640 0.00228216 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - HSD17B2 Gly271Cys G271C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - WFDC1 Arg17Gln R17Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF469 Arg3414Ser R3414S not reviewed Insufficiently evaluated not reviewed unknown Array rs56236932 34 3150 0.0107936 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.62 - - 3 - 1 N - - TUSC5 Ala18Thr A18T not reviewed Insufficiently evaluated not reviewed unknown Array 173 9952 0.0173834 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZZEF1 Phe479Ser F479S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYH10 Glu1630Lys E1630K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC47A2 Pro159Leu P159L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - POLDIP2 Ala34Val A34V not reviewed Insufficiently evaluated not reviewed unknown Array rs11555978 128 8428 0.0151875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_144610 Gly249Ser G249S not reviewed Insufficiently evaluated not reviewed unknown Array rs34026109 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - LRRC37B Gln621His Q621H not reviewed Insufficiently evaluated not reviewed unknown Array 4 108 0.037037 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C17ORF50 Ser174Phe S174F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR179 Ser307Arg S307R not reviewed Insufficiently evaluated not reviewed unknown Array 131 10026 0.013066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PLXDC1 Thr76Lys T76K not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - ZNF385C Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10748 0.00362858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC18A1 Gly202Asp G202D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NSF Thr664Ala T664A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - TBKBP1 Pro189Ala P189A not reviewed Insufficiently evaluated not reviewed unknown Array 22 9944 0.00221239 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - MYST2 Ile404Val I404V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - KIF2B Gly468Glu G468E not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - HEATR6 Ser825Asn S825N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - FDXR Arg322Gln R322Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - FDXR Arg321Gln R321Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CASKIN2 Pro871Leu P871L not reviewed Insufficiently evaluated not reviewed unknown Array 7 8428 0.000830564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - USP36 Arg708His R708H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - CCDC40 Val200Ile V200I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10040 0.000298804 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MYOM1 Lys1438Glu K1438E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMA1 Thr2575Met T2575M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 2 - 1 N - - SIGLEC15 Gly217Cys G217C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - KIAA1632 Ala873Val A873V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9612 0.000104036 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - C18ORF26 Arg106Cys R106C not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - REXO1 Gln320Pro Q320P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 4 Y 0 N - - DOT1L Gly1443Cys G1443C not reviewed Insufficiently evaluated not reviewed unknown Array 396 9090 0.0435644 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - AK098244 Ser687Thr S687T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLIN4 Ser906Thr S906T not reviewed Insufficiently evaluated not reviewed unknown Array 10 84 0.119048 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PLIN4 Val903Met V903M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10264 0.00331255 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Phe653Leu F653L not reviewed Insufficiently evaluated not reviewed unknown Array rs73920827 311 10168 0.0305862 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Ala397Val A397V not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - LONP1 Ala829Thr A829T not reviewed Insufficiently evaluated not reviewed unknown Array rs35804229 133 10758 0.0123629 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TRIP10 Arg524Gln R524Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRAM1 Pro286Leu P286L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Pro13914Leu P13914L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742668 793 9810 0.0808359 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DAND5 Arg152His R152H not reviewed Insufficiently evaluated not reviewed unknown Array rs45513495 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.272 - - 1 - 1 N - - BRD4 Pro252Arg P252R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10026 0.000797925 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 5 Y 2 N - - MAST3 Arg1239Trp R1239W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - KLHL26 Arg115Gln R115Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - 0 - 0 N - - TM6SF2 Phe155Ser F155S not reviewed Insufficiently evaluated not reviewed unknown Array 4 9964 0.000401445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF493 Arg612Gln R612Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF493 Ile615Thr I615T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF493 Lys621Ile K621I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF208 Leu272Phe L272F not reviewed Insufficiently evaluated not reviewed unknown Array 95 10522 0.0090287 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - ZNF99 His966Leu H966L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - TDRD12 Thr910Ala T910A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.498 - - 1 - 1 N - - PPP1R14A Glu86Gln E86Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61750951 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.901 - - -2 - 2 N - - FAM98C Cys227Gly C227G not reviewed Insufficiently evaluated not reviewed unknown Array 102 10720 0.00951493 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - FCGBP Ala4607Gly A4607G not reviewed Insufficiently evaluated not reviewed unknown Array rs4029187 41 10754 0.00381253 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF780B Arg573Gln R573Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61737024 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF235 Ile256Ser I256S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - CD3EAP Phe12Leu F12L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - BC007358 Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array rs35384424 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYMPK Pro995Leu P995L not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NUCB1 Glu358Asp E358D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - DKKL1 Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - C19ORF63 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FPR2 Phe74Leu F74L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - AK127846 Pro189Leu P189L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRA2 Leu135Ser L135S not reviewed Insufficiently evaluated not reviewed unknown Array rs45523736 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RDH13 AsnAla21LysThr NA21KT not reviewed Insufficiently evaluated not reviewed unknown Array rs36097401 14 128 0.109375 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TMEM150B Val231Ile V231I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SUV420H2 Pro328His P328H not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - 5 Y 0 N - - NLRP5 Thr281Met T281M not reviewed Insufficiently evaluated not reviewed unknown Array rs45627733 16 10170 0.00157325 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF329 Asn196Ser N196S not reviewed Insufficiently evaluated not reviewed unknown Array rs34681367 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC15 Ser570Leu S570L not reviewed Insufficiently evaluated not reviewed unknown Array rs114907951 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - 6 Y 1 N - - GEN1 Arg898Cys R898C not reviewed Insufficiently evaluated not reviewed unknown Array rs17315702 70 10748 0.00651284 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ASXL2 Gln547Arg Q547R not reviewed Insufficiently evaluated not reviewed unknown Array 20 9612 0.00208073 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.783 - - 0 - 1 N - - CIB4 Lys101Asn K101N not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - KCNK3 Lys107Asn K107N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - BIRC6 Ser1370Pro S1370P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC4F Lys125Gln K125Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - ATP6V1B1 Glu161Lys E161K not reviewed Insufficiently evaluated not reviewed unknown Array 234 10758 0.0217513 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MPHOSPH10 Arg595Gln R595Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - USP39 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 410 10418 0.039355 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCAPH Val384Ile V384I not reviewed Insufficiently evaluated not reviewed unknown Array rs61754144 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - BC146835 Cys10Ser C10S not reviewed Insufficiently evaluated not reviewed unknown Array rs58998411 6 6 1 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AFF3 ThrSerAla619Ser TSA619S not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POU3F3 Ala420Val A420V not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - FHL2 Val29Met V29M not reviewed Insufficiently evaluated not reviewed unknown Array rs56284940 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CCDC138 Arg210His R210H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CKAP2L Arg695Gln R695Q not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.787 - - 0 - 1 N - - YSK4 Tyr380His Y380H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - -1 - 2 N - - C2ORF77 Arg298Lys R298K not reviewed Insufficiently evaluated not reviewed unknown Array rs61741435 255 9504 0.0268308 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RFTN2 Asn198Lys N198K not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - ALS2CR11 Pro1773Leu P1773L not reviewed Insufficiently evaluated not reviewed unknown Array rs72939119 144 10758 0.0133854 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PIKFYVE Asn1330Ser N1330S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - - 0 - 0 N - - PTH2R Arg143Cys R143C not reviewed Insufficiently evaluated not reviewed unknown Array rs61744730 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - MAP2 Ala983Pro A983P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FN1 Arg592His R592H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - TNS1 Val109Ile V109I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPEG Ser2626Pro S2626P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXO36 Leu9Phe L9F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISM1 Ser102Pro S102P not reviewed Insufficiently evaluated not reviewed unknown Array 269 9698 0.0277377 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - RIN2 Cys71Tyr C71Y not reviewed Insufficiently evaluated not reviewed unknown Array 314 10232 0.030688 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - RIN2 Tyr834Phe Y834F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10306 0.00106734 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -4 - 2 N - - C20ORF114 Ile94Phe I94F not reviewed Insufficiently evaluated not reviewed unknown Array rs61739245 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSS2 Ala512Thr A512T not reviewed Insufficiently evaluated not reviewed unknown Array rs59116442 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ACTR5 Tyr163Cys Y163C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - PTPRT Met76Val M76V not reviewed Insufficiently evaluated not reviewed unknown Array rs17811401 85 9748 0.00871974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.093 - - 0 - 0 N - - CTCFL Gln525Glu Q525E not reviewed Insufficiently evaluated not reviewed unknown Array rs6070122 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF831 Arg1310Cys R1310C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9896 0.000303152 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - OGFR Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41309371 139 10476 0.0132684 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - OGFR Ser519Leu S519L not reviewed Insufficiently evaluated not reviewed unknown Array 79 10592 0.00745846 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.495 - - 6 Y 1 N - - NM_001037335 Pro2016Leu P2016L not reviewed Insufficiently evaluated not reviewed unknown Array rs3810485 2500 10514 0.237778 12 0 13 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - ZGPAT Pro436Ser P436S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ZBTB46 Ala109Ser A109S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - SFRS15 Val302Leu V302L not reviewed Insufficiently evaluated not reviewed unknown Array 641 10758 0.0595836 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFNAR1 Arg340Gly R340G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 6 Y 2 N - - DOPEY2 Ala649Val A649V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSF2BP Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - C21ORF2 Pro29Ser P29S not reviewed Insufficiently evaluated not reviewed unknown Array rs73231264 4 120 0.0333333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIOBP Glu400Asp E400D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -2 - 1 N - - TRIOBP Ser402Pro S402P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CYP2D6 Gly212Glu G212E not reviewed Insufficiently evaluated not reviewed unknown Array rs5030866 50 10752 0.0046503 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN1 Val586Ile V586I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CRELD2 Arg189Gly R189G not reviewed Insufficiently evaluated not reviewed unknown Array 296 10758 0.0275144 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP6R2 Glu406Gln E406Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55712763 147 10758 0.0136642 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPP6R2 Asp606Glu D606E not reviewed Insufficiently evaluated not reviewed unknown Array rs11555194 363 10758 0.0337423 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ODF3B Asp82Asn D82N not reviewed Insufficiently evaluated not reviewed unknown Array 264 8090 0.0326329 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 1 N - - BRPF1 Ile240Val I240V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TOP2B Glu1373Lys E1373K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCN11A Tyr1627His Y1627H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.921 - - -1 - 2 N - - MYRIP Ser473Phe S473F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 5 Y 0 N - - MAP4 Ser996Phe S996F not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - NME6 Ser177Ile S177I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBXW12 Ala82Gly A82G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - PLXNB1 Arg272His R272H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729213 58 10750 0.00539535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - PPM1M Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ITIH4 Val402Met V402M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAT1 Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61756221 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - CCDC80 Leu341Phe L341F not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPICE1 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array rs73239152 172 10758 0.0159881 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KIAA2018 Asn1080Ser N1080S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10026 0.000897666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLQ Lys91Asn K91N not reviewed Insufficiently evaluated not reviewed unknown Array rs61757738 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGB1 Arg2587Gln R2587Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - MYLK Pro443Ser P443S not reviewed Insufficiently evaluated not reviewed unknown Array rs35156360 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ITGB5 Glu80Gln E80Q not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - -2 - 2 N - - ALDH1L1 Val523Met V523M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.657 - - 0 - 1 N - - COL6A6 Met227Val M227V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9922 0.000100786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DNAJC13 Ser790Tyr S790Y not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAJC13 ArgLeu1076SerVal RL1076SV not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJC13 Tyr1673Cys Y1673C not reviewed Insufficiently evaluated not reviewed unknown Array 477 10758 0.0443391 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP2R3A Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array 85 10756 0.00790257 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -4 - 2 N - - DVL3 Pro671Gln P671Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DGKG Tyr52Cys Y52C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SST Asn61Thr N61T not reviewed Insufficiently evaluated not reviewed unknown Array rs33934967 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK057553 GlnAla39ArgThr QA39RT not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK057553 ValHis195GluTyr VH195EY not reviewed Insufficiently evaluated not reviewed unknown Array rs6583274 3 70 0.0428571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AF088032 Glu65Val E65V not reviewed Insufficiently evaluated not reviewed unknown Array 2 64 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0226 Gly144Arg G144R not reviewed Insufficiently evaluated not reviewed unknown Array 12 9980 0.0012024 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 6 Y 0 N - - LETM1 Lys587Arg K587R not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - -3 - 0 N - - AX748249 Leu148Pro L148P not reviewed Insufficiently evaluated not reviewed unknown Array rs116041890 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UTP3 Pro194Ser P194S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CXCL10 Arg29Cys R29C not reviewed Insufficiently evaluated not reviewed unknown Array rs11548618 51 9866 0.00516927 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - THAP9 Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PTPN13 Gly289Ser G289S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730646 69 9682 0.00712663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDLIM5 His592Arg H592R not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C4ORF17 Ala351Thr A351T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF38 Met88Val M88V not reviewed Insufficiently evaluated not reviewed unknown Array rs2276970 1017 10758 0.0945343 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NDST4 Gly163Ser G163S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.845 - - 2 - 1 N - - QRFPR ValVal69GlyLeu VV69GL not reviewed Insufficiently evaluated not reviewed unknown Array rs55693553 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF175 His48Tyr H48Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10288 0.000291601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - RXFP1 Tyr432Phe Y432F not reviewed Insufficiently evaluated not reviewed unknown Array 17 9692 0.00175402 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NPY1R His12Tyr H12Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - BC150558 Stop109Ser X109S not reviewed Insufficiently evaluated not reviewed unknown Array rs6891099 3 116 0.0258621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM173B Val114Ala V114A not reviewed Insufficiently evaluated not reviewed unknown Array rs17360625 222 9646 0.0230147 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.791 - - 2 - 1 N - - CCT5 Glu146Val E146V not reviewed Insufficiently evaluated not reviewed unknown Array rs11557652 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.179 - - 5 Y 0 N - - CDH18 Asn422His N422H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HEATR7B2 Trp191Gln W191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1023840 30 126 0.238095 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BDP1 Lys722Glu K722E not reviewed Insufficiently evaluated not reviewed unknown Array rs36009281 587 9606 0.0611076 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 1 N - - BDP1 Thr2580Ala T2580A not reviewed Insufficiently evaluated not reviewed unknown Array rs34246164 352 9576 0.0367586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PAM Pro192Leu P192L not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAM Glu491Asp E491D not reviewed Insufficiently evaluated not reviewed unknown Array rs61736661 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - YTHDC2 Phe714Cys F714C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TICAM2 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP120 Leu712Phe L712F not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CATSPER3 Asp273Gly D273G not reviewed Insufficiently evaluated not reviewed unknown Array rs72800379 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - PCDHB6 Glu621Gly E621G not reviewed Insufficiently evaluated not reviewed unknown Array 280 10304 0.0271739 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PCDHB9 Leu702Phe L702F not reviewed Insufficiently evaluated not reviewed unknown Array rs1811235 907 10574 0.0857764 11 0 17 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PCDHB18 Phe474Ile F474I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - PCYOX1L Thr433Met T433M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 2 - 0 N - - DUSP1 Tyr187His Y187H not reviewed Insufficiently evaluated not reviewed unknown Array rs34471628 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - NM_001093761 Arg126Gln R126Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56040710 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - N4BP3 Arg317His R317H not reviewed Insufficiently evaluated not reviewed unknown Array 228 10662 0.0213844 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TBC1D9B Arg807Gln R807Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10754 0.00176678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TRIM38 Arg53Ser R53S not reviewed Insufficiently evaluated not reviewed unknown Array rs41266771 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PGBD1 Val187Leu V187L not reviewed Insufficiently evaluated not reviewed unknown Array rs41269293 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF311 Pro50Leu P50L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - OR2J2 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array rs41270628 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10C1 Tyr34Cys Y34C not reviewed Insufficiently evaluated not reviewed unknown Array rs41271549 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR10C1 Pro309Thr P309T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 0 N - - OR10C1 Met310Val M310V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735219 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIFC1 Arg210Cys R210C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK307070 Glu41Asp E41D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF318 Ser1364Leu S1364L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - GSTA2 Pro110Ser P110S not reviewed Insufficiently evaluated not reviewed unknown Array rs2234951 276 10758 0.0256553 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - COL21A1 Pro583Arg P583R not reviewed Insufficiently evaluated not reviewed unknown Array 64 8644 0.00740398 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 5 Y 0 N - - FILIP1 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array rs62415695 272 10758 0.0252835 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - FILIP1 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.322 - - 0 - 1 N - - KIAA1009 Ser342Cys S342C not reviewed Insufficiently evaluated not reviewed unknown Array rs17790493 215 10752 0.0199963 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - KIAA1009 Ser93Gly S93G not reviewed Insufficiently evaluated not reviewed unknown Array 98 10740 0.00912477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 2 - 1 N - - MMS22L Pro1152Leu P1152L not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 1 N - - AK124171 Glu220Lys E220K not reviewed Insufficiently evaluated not reviewed unknown Array 4 82 0.0487805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPRC6A Thr679Met T679M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MCM9 Asn304Ser N304S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.484 - - 0 - 1 N - - NCOA7 Met838Thr M838T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - HIVEP2 Ser362Leu S362L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9864 0.000202757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.902 - - 6 Y 2 N - - BC047626 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array rs73016165 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001099942 Thr57Lys T57K not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXK1 Ala694Thr A694T not reviewed Insufficiently evaluated not reviewed unknown Array rs15715 55 9964 0.00551987 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - KIAA0415 Val700Met V700M not reviewed Insufficiently evaluated not reviewed unknown Array rs11766611 154 10160 0.0151575 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - RADIL Thr700Ile T700I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9478 0.000211014 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCB5 Thr131Ile T131I not reviewed Insufficiently evaluated not reviewed unknown Array rs17143212 310 7820 0.0396419 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH11 Ala4322Thr A4322T not reviewed Insufficiently evaluated not reviewed unknown Array rs72658825 256 9800 0.0261224 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - OSBPL3 Asp321Asn D321N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - -1 - 1 N - - SAMD9L Gln1010Glu Q1010E not reviewed Insufficiently evaluated not reviewed unknown Array 34 10750 0.00316279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - -2 - 1 N - - EPO Asp70Asn D70N not reviewed Insufficiently evaluated not reviewed unknown Array rs62483572 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - AK097289 Pro107Ser P107S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPDYE2 Pro143Arg P143R not reviewed Insufficiently evaluated not reviewed unknown Array rs71243674 8 22 0.363636 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CTTNBP2 Arg1001Cys R1001C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - UBN2 Ser341Leu S341L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGEF35 Ser372Ile S372I not reviewed Insufficiently evaluated not reviewed unknown Array rs62484804 2 86 0.0232558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - CNTNAP2 Val786Ile V786I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - ACCN3 Pro289Ser P289S not reviewed Insufficiently evaluated not reviewed unknown Array 104 10756 0.00966902 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - PINX1 Arg215Ile R215I not reviewed Insufficiently evaluated not reviewed unknown Array rs17855458 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - PINX1 Gln50His Q50H not reviewed Insufficiently evaluated not reviewed unknown Array rs11546306 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - BMP1 Arg371His R371H not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 1 - 1 N - - CDCA2 Glu157Lys E157K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM35 Arg456Cys R456C not reviewed Insufficiently evaluated not reviewed unknown Array 30 10754 0.00278966 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - SCARA5 Ala304Val A304V not reviewed Insufficiently evaluated not reviewed unknown Array 295 10758 0.0274215 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - LYPLA1 Gly158Ser G158S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADHFE1 Ala5Val A5V not reviewed Insufficiently evaluated not reviewed unknown Array 32 8712 0.00367309 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SULF1 Ile371Val I371V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -4 - 0 N - - JPH1 Ala605Gly A605G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SLC10A5 Phe61Leu F61L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC089453 Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TM7SF4 Leu397Phe L397F not reviewed Insufficiently evaluated not reviewed unknown Array rs62620995 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 2 N - - ABRA Trp36Arg W36R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ATAD2 Ile1279Met I1279M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - ZFP41 Ile79Val I79V not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAPK15 Ser505Pro S505P not reviewed Insufficiently evaluated not reviewed unknown Array rs56038219 283 9756 0.0290078 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - TTC39B Thr62Pro T62P not reviewed Insufficiently evaluated not reviewed unknown Array rs10961917 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - MLLT3 Asp365Glu D365E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFT74 Pro301Leu P301L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9562 0.000418322 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NFX1 Arg1032Gln R1032Q not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - NOL6 Met1047Leu M1047L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - -3 - 0 N - - ANXA2 Asn65Lys N65K not reviewed Insufficiently evaluated not reviewed unknown Array rs55634105 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANXA2 Ser85Leu S85L not reviewed Insufficiently evaluated not reviewed unknown Array rs72709665 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRUNE2 Pro2464Leu P2464L not reviewed Insufficiently evaluated not reviewed unknown Array 82 7820 0.0104859 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEP78 Ser300Pro S300P not reviewed Insufficiently evaluated not reviewed unknown Array rs72743760 14 9398 0.00148968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 3 - 0 N - - GKAP1 Arg366Lys R366K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -3 - 2 N - - ZCCHC6 Thr666Ile T666I not reviewed Insufficiently evaluated not reviewed unknown Array rs61730257 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - IPPK Leu376Phe L376F not reviewed Insufficiently evaluated not reviewed unknown Array rs2277170 435 10758 0.040435 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 2 N - - IPPK Arg130Trp R130W not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FKBP15 Arg1081Ser R1081S not reviewed Insufficiently evaluated not reviewed unknown Array 7 9914 0.000706072 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - RNF183 Arg85Cys R85C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10546 0.00768064 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TLR4 Tyr46Cys Y46C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.224 - - 6 Y 1 N - - OR1Q1 Pro175Leu P175L not reviewed Insufficiently evaluated not reviewed unknown Array rs55957445 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 1 N - - C9ORF50 Pro223Ser P223S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEC16A Ile2223Val I2223V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC16A Ala1963Val A1963V not reviewed Insufficiently evaluated not reviewed unknown Array rs79974534 137 9886 0.013858 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOTCH1 Arg1608His R1608H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10554 0.000758006 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - FAM69B Glu387Lys E387K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - MAMDC4 Pro397Ser P397S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745456 155 10358 0.0149643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - BC018860 Thr168Ala T168A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AF391805 Asp128Gly D128G not reviewed Insufficiently evaluated not reviewed unknown Array rs2853506 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EGFL6 Gln314Lys Q314K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 1 N - - SMEK3P Phe343Leu F343L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.833 - - 0 - 1 N - - WASF4 Ser127Phe S127F not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 5 Y 2 N - - GLOD5 Lys116Glu K116E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQSEC2 Ala1470Thr A1470T not reviewed Insufficiently evaluated not reviewed unknown Array 3 1841 0.00162955 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF8 Glu711Lys E711K not reviewed Insufficiently evaluated not reviewed unknown Array rs41306749 8 8756 0.000913659 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZXDA Glu246Lys E246K not reviewed Insufficiently evaluated not reviewed unknown Array 1 61 0.0163934 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - MCF2 His629Tyr H629Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61751333 120 8750 0.0137143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GABRE Pro437Leu P437L not reviewed Insufficiently evaluated not reviewed unknown Array rs45439991 306 8761 0.0349275 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ARHGAP4 Ser824Arg S824R not reviewed Insufficiently evaluated not reviewed unknown Array 85 8755 0.00970874 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - C1ORF170 Gln131Stop Q131X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC163P Gln84Stop Q84X not reviewed Insufficiently evaluated not reviewed unknown Array rs72898310 535 10502 0.0509427 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PDE4DIP Leu1727Shift L1727Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOTCH2NL Thr218Shift T218Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59357820 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Asn1913Arg N1913R not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Pro1908Ser P1908S not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FLG Ser1906Glu S1906E not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG His1312Gln H1312Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FMO4 Stop472Gln X472Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6661174 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USH2A Trp4149Arg W4149R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.073 Y Y 7 Y 2 N - - EPHX1 Arg49Cys R49C not reviewed Insufficiently evaluated not reviewed unknown Array rs2234697 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 8 Y 3 N - - OR2T11 Ser107Shift S107Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2T27 Arg293Shift R293Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RET Val397Met V397M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.514 Y Y 0 - 3 N - - MYST4 Cys1732Shift C1732Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL17A1 SerGlyGlyGlyGlyGlyValGlyGly435Del SGGGGGVGG435Del not reviewed Insufficiently evaluated not reviewed unknown Array 6 122 0.0491803 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - C10ORF96 Ile204Shift I204Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ596646 Tyr22Stop Y22X not reviewed Insufficiently evaluated not reviewed unknown Array rs73387508 9 126 0.0714286 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - AK160367 Val380Shift V380Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs111769579 7 126 0.0555556 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52I2 Ser175Shift S175Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 124 0.0322581 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR52A4 Leu102Shift L102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMPD1 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35824453 168 10758 0.0156163 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OR5P2 Leu284Shift L284Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYO7A Arg816His R816H not reviewed Insufficiently evaluated not reviewed unknown Array 31 9638 0.00321643 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - MYO7A Gly2214Ser G2214S not reviewed Insufficiently evaluated not reviewed unknown Array 183 10168 0.0179976 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CASP5 Thr52Shift T52Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF52 Lys22Stop K22X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TNFRSF1A Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 1 N - - A2ML1 Ser482Shift S482Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KLRK1 Tyr95Shift Y95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT83 Cys462Shift C462Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - KRT6A Arg415His R415H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730612 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - OR6C4 Leu192Shift L192Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59693527 11 128 0.0859375 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TPH2 Arg55Cys R55C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - P2RX2 Ser468Shift S468Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POLE Ala1093Shift A1093Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C13ORF23 Asp167Shift D167Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COG6 Met507Shift M507Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 Ala1948Val A1948V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SERPINA9 Val206Shift V206Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746996 Ser57Shift S57Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OCA2 Arg266Trp R266W not reviewed Insufficiently evaluated not reviewed unknown Array rs33929465 108 10756 0.0100409 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 7 Y 4 N - - TTBK2 Arg500Pro R500P not reviewed Insufficiently evaluated not reviewed unknown Array rs56039839 101 10072 0.0100278 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.526 Y Y 5 Y 3 N - - DUOXA2 Leu298Shift L298Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC068063 Trp37Stop W37X not reviewed Insufficiently evaluated not reviewed unknown Array rs8552 6 100 0.06 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - AGPHD1 Thr60Shift T60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MESP2 GlnGlyGlnGly202Del QGQG202Del not reviewed Insufficiently evaluated not reviewed unknown Array rs56192595 2 22 0.0909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - MESP2 Ser224Phe S224F not reviewed Insufficiently evaluated not reviewed unknown Array rs71647807 198 9400 0.0210638 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.941 Y Y 5 Y 4 N - - C15ORF32 Lys30Stop K30X not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RPGRIP1L Ile389Val I389V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y -4 - 2 N - - PLEKHG4 Ala1180Shift A1180Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PKD1L2 Ser1219Shift S1219Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Cys26Shift C26Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 44 0.0454545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK057919 Arg76Stop R76X not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AIPL1 Ala313Ser A313S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -1 - 2 N - - AIPL1 Thr47Arg T47R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.983 Y Y 3 - 4 N - - RAI1 Glu1264Gly E1264G not reviewed Insufficiently evaluated not reviewed unknown Array rs61746214 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 6 Y 4 N - - TCAP Ser64Leu S64L not reviewed Insufficiently evaluated not reviewed unknown Array rs45458802 44 10746 0.00409455 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.945 Y Y 6 Y 4 N - - GRN Glu421Lys E421K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CACNA1G Pro1911Shift P1911Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POLG2 Gly41Glu G41E not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.023 Y - 6 Y 1 N - - ACOX1 Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 7 Y 1 N - - GAA Arg463Trp R463W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SGSH Asp102Shift D102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - NPC1 Met1179Val M1179V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731969 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 0 - 2 N - - DSG2 Ser883Pro S883P not reviewed Insufficiently evaluated not reviewed unknown Array rs34417028 57 9652 0.00590551 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.239 Y Y 3 - 3 N - - DSG2 Thr903Ile T903I not reviewed Insufficiently evaluated not reviewed unknown Array rs34065672 60 9704 0.00618302 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.16 Y Y 3 - 2 N - - FUT3 Gly223Arg G223R not reviewed Insufficiently evaluated not reviewed unknown Array rs28362466 459 10744 0.0427215 5 0 6 0 0 - - - - - - - - - - - - - - - - 1.0 Y Y 6 Y 4 N - - PEX11G Ser13Stop S13X not reviewed Insufficiently evaluated not reviewed unknown Array 13 9768 0.00133088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1A Pro1013Ala P1013A not reviewed Insufficiently evaluated not reviewed unknown Array rs28413664 3 96 0.03125 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NOTCH3 Gly179Val G179V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - BC034980 Gly167Shift G167Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF221 Gly316Shift G316Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBLC Leu178Phe L178F not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.153 Y Y 0 - 2 N - - IGFL3 Lys103Shift K103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CRX Cys19Arg C19R not reviewed Insufficiently evaluated not reviewed unknown Array rs10418215 12 124 0.0967742 12 0 13 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 2 N - - CRX Ala158Thr A158T not reviewed Insufficiently evaluated not reviewed unknown Array rs61748445 331 10758 0.0307678 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.345 Y Y 1 - 3 N - - SIGLEC11 Ala135Shift A135Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 120 0.05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746649 Gln132Stop Q132X not reviewed Insufficiently evaluated not reviewed unknown Array 74 3234 0.0228819 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CR624999 Arg66Stop R66X not reviewed Insufficiently evaluated not reviewed unknown Array rs7559613 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PEX13 Asp225Gly D225G not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 4 Y 2 N - - MMADHC Ser143Ile S143I not reviewed Insufficiently evaluated not reviewed unknown Array rs34886916 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.041 Y Y 5 Y 2 N - - MMADHC Glu138Lys E138K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746421 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.882 Y Y 0 - 4 N - - TTN Pro30910Ser P30910S not reviewed Insufficiently evaluated not reviewed unknown Array rs72629779 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile27636Thr I27636T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Val15661Met V15661M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9774 0.000102312 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg10356His R10356H not reviewed Insufficiently evaluated not reviewed unknown Array rs59887778 68 9062 0.00750386 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Val9508Ile V9508I not reviewed Insufficiently evaluated not reviewed unknown Array rs72650028 111 9656 0.0114954 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Cys4976Ser C4976S not reviewed Insufficiently evaluated not reviewed unknown Array 20 9736 0.00205423 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Thr4527Ser T4527S not reviewed Insufficiently evaluated not reviewed unknown Array rs16866477 56 9836 0.00569337 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL4A4 Met1549Ile M1549I not reviewed Insufficiently evaluated not reviewed unknown Array 117 10346 0.0113087 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL4A4 Ala1078Val A1078V not reviewed Insufficiently evaluated not reviewed unknown Array 105 9578 0.0109626 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL4A4 Ile967Val I967V not reviewed Insufficiently evaluated not reviewed unknown Array 155 9588 0.016166 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - COL4A4 Gly545Ala G545A not reviewed Insufficiently evaluated not reviewed unknown Array rs1800516 355 9852 0.0360333 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL6A3 Phe405Ser F405S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SALL4 Thr828Met T828M not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y 2 - 3 N - - COL18A1 Gly1108Arg G1108R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - COL18A1 Gly1316Arg G1316R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ALG12 Arg233Gln R233Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.123 Y Y 0 - 2 N - - BTD Ile68Val I68V not reviewed Insufficiently evaluated not reviewed recessive Array rs114092911 86 10758 0.00799405 3 0 3 2 2 1 Y - - - - - - 4 Y 5 Y Y - - - 0.002 Y Y -4 - 2 N - - COL7A1 Arg1724His R1724H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - MST1R Lys621Stop K621X not reviewed Insufficiently evaluated not reviewed unknown Array rs9819888 49 10758 0.00455475 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK311093 Trp37Stop W37X not reviewed Insufficiently evaluated not reviewed unknown Array rs73835537 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - HGD Ala48Ser A48S not reviewed Insufficiently evaluated not reviewed unknown Array 119 10750 0.0110698 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - RTP2 His69Shift H69Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RTP2 Ala68Shift A68Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EVC2 Arg272Trp R272W not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.08 Y - 7 Y 1 N - - CORIN Ile458Shift I458Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FRAS1 Gly3905Val G3905V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748815 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ANK2 Arg1582Trp R1582W not reviewed Insufficiently evaluated not reviewed unknown Array rs35249198 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TERT Arg691His R691H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.515 Y Y 1 - 3 N - - DNAH5 Met1081Val M1081V not reviewed Insufficiently evaluated not reviewed unknown Array rs16902880 153 10756 0.0142246 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 0 - 2 N - - DNAH5 Ser1006Gly S1006G not reviewed Insufficiently evaluated not reviewed unknown Array rs16902886 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GHR Gly80Val G80V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 8 Y 3 N - - GPR98 Asn606Thr N606T not reviewed Insufficiently evaluated not reviewed unknown Array rs61749567 97 9556 0.0101507 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.976 Y Y 1 - 4 N - - GPR98 Thr1099Ala T1099A not reviewed Insufficiently evaluated not reviewed unknown Array rs61754947 20 9440 0.00211864 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - GPR98 Thr1916Ile T1916I not reviewed Insufficiently evaluated not reviewed unknown Array rs35791889 123 9900 0.0124242 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.831 Y Y 3 - 3 N - - GPR98 Arg2360His R2360H not reviewed Insufficiently evaluated not reviewed unknown Array 85 9674 0.00878644 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 1 - 2 N - - GPR98 Thr5650Ser T5650S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748627 39 10102 0.00386062 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FBN2 Val2390Ala V2390A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FBN2 Ala1056Ser A1056S not reviewed Insufficiently evaluated not reviewed unknown Array rs28763945 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SRA1 Pro73Leu P73L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10756 0.00539234 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 N - - TCOF1 Ser922Leu S922L not reviewed Insufficiently evaluated not reviewed unknown Array 237 10758 0.0220301 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DTNBP1 Pro296Ser P296S not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - HLA-H Val184Gly V184G not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - HCG9 Lys44Stop K44X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HLA-DQA1 GlnSer152HisAla QS152HA not reviewed Insufficiently evaluated not reviewed unknown Array rs707950 10 86 0.116279 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - TULP1 Pro143Ala P143A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.947 Y Y 2 - 4 N - - MOCS1 Arg272Trp R272W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LCA5 Ile527Val I527V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y -4 - 2 N - - SLC35A1 Ala3Ser A3S not reviewed Insufficiently evaluated not reviewed unknown Array 109 9662 0.0112813 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -1 - 2 N - - SLC35A1 Asn7His N7H not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.135 Y Y 0 - 2 N - - PLAGL1 Ala272Val A272V not reviewed Insufficiently evaluated not reviewed unknown Array rs35263016 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - SYNE1 Ser6763Leu S6763L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 6 Y 4 N - - SYNE1 Pro4057Leu P4057L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.906 Y Y 7 Y 4 N - - SYNE1 Gly3403Ser G3403S not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FKBP9 Asn129Shift N129Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EPDR1 Ala36Shift A36Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DDC Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array rs6262 153 10758 0.014222 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.957 Y - 7 Y 3 N - - ABCB1 Arg669Cys R669C not reviewed Insufficiently evaluated not reviewed unknown Array rs35023033 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRKAG2 Asp522Tyr D522Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 7 Y 3 N - - AJ005372 Arg319Stop R319X not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IDO2 Arg221Stop R221X not reviewed Insufficiently evaluated not reviewed unknown Array 36 10108 0.00356153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VPS13B Pro968Arg P968R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 5 Y 4 N - - VPS13B Arg1416Gln R1416Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 0 - 4 N - - TOPORS Pro812Arg P812R not reviewed Insufficiently evaluated not reviewed unknown Array rs36034138 114 10758 0.0105968 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.96 Y - 5 Y 3 N - - PRSS3 Asp213Shift D213Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TJP2 Arg287ArgSerArg R287RSR not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - FAM75B Trp44Stop W44X not reviewed Insufficiently evaluated not reviewed unknown Array 55 6340 0.00867508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FANCC Ser386Pro S386P not reviewed Insufficiently evaluated not reviewed unknown Array rs41281202 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - IKBKAP Gly1013Ser G1013S not reviewed Insufficiently evaluated not reviewed unknown Array rs2230795 422 10758 0.0392266 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MEGF9 Glu238Shift E238Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SETX Gln653Lys Q653K not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SETX Asn603Asp N603D not reviewed Insufficiently evaluated not reviewed unknown Array 56 10756 0.0052064 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ABO Pro353Shift P353Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs8176750 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMR1 Ala145Ser A145S not reviewed Insufficiently evaluated not reviewed unknown Array rs29281 299 8761 0.0341285 2 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - AVPR2 Ala42Val A42V not reviewed Insufficiently evaluated not reviewed unknown Array rs5198 102 8725 0.0116905 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 2 - 2 N - - F8 Arg1079Lys R1079K not reviewed Insufficiently evaluated not reviewed unknown Array 19 8761 0.0021687 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.064 Y Y -3 - 2 N - - C1ORF170 Cys502Trp C502W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AGRN Gln353Arg Q353R not reviewed Insufficiently evaluated not reviewed unknown Array 159 10402 0.0152855 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.122 Y - 0 - 1 N - - FAM132A Leu261Val L261V not reviewed Insufficiently evaluated not reviewed unknown Array 3 94 0.0319149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PUSL1 Arg236Del R236Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VWA1 Gly173Ser G173S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.502 - - 2 - 1 N - - ATAD3C Met159Thr M159T not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1751 Ile224Thr I224T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10450 0.000861244 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 3 - 0 N - - MMEL1 His732Tyr H732Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR8 Val358Ile V358I not reviewed Insufficiently evaluated not reviewed unknown Array rs16823940 332 10752 0.030878 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0562 Ala164Ser A164S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PLEKHG5 GluGlu778Del EE778Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAS1R1 Arg603His R603H not reviewed Insufficiently evaluated not reviewed unknown Array 139 10756 0.012923 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - UTS2 Ser45Phe S45F not reviewed Insufficiently evaluated not reviewed unknown Array 96 10756 0.00892525 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTCHD2 Thr823Asn T823N not reviewed Insufficiently evaluated not reviewed unknown Array rs61744873 50 9738 0.00513452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C1ORF187 Arg212Gln R212Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35500656 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13D Arg3797Trp R3797W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNAJC16 Arg739Gln R739Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.215 - - 0 - 1 N - - CLCNKB Val524Ile V524I not reviewed Insufficiently evaluated not reviewed unknown Array 124 10756 0.0115284 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - EPHA2 Val747Ile V747I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALDH4A1 Val489Ile V489I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - UBXN10 Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - EIF4G3 Thr1113Met T1113M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - TCEB3 Leu380Ser L380S not reviewed Insufficiently evaluated not reviewed unknown Array rs34394004 10 128 0.078125 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - IL28RA Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 2 - 2 N - - FAM54B Asn31Ser N31S not reviewed Insufficiently evaluated not reviewed unknown Array rs34173733 115 10142 0.011339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - CNKSR1 Ile474Thr I474T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN11 CysProGlyProGlyProGlyProSerProGly486Ser CPGPGPGPSPG486S not reviewed Insufficiently evaluated not reviewed unknown Array 4 30 0.133333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PTPRU Val843Phe V843F not reviewed Insufficiently evaluated not reviewed unknown Array rs61729921 393 10746 0.0365717 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL16A1 Pro903Gln P903Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 9846 0.00335161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GJA4 Gly316Ser G316S not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - TFAP2E Arg301Gln R301Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSF3R Tyr562His Y562H not reviewed Insufficiently evaluated not reviewed unknown Array rs3917996 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZC3H12A Leu590Phe L590F not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - KIAA0754 Glu826Lys E826K not reviewed Insufficiently evaluated not reviewed unknown Array 56 9774 0.00572949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Lys4742Arg K4742R not reviewed Insufficiently evaluated not reviewed unknown Array rs682351 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BMP8A His155Tyr H155Y not reviewed Insufficiently evaluated not reviewed unknown Array rs1737740 314 6412 0.0489707 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 2 N - - HIVEP3 Arg1681His R1681H not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - GUCA2B Pro78Ser P78S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PPCS Gln264His Q264H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745591 13 9668 0.00134464 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM183A Val39Met V39M not reviewed Insufficiently evaluated not reviewed unknown Array 6 9858 0.000608642 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.643 - - 0 - 1 N - - CCDC24 Arg290Ser R290S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.788 - - 3 - 1 N - - C1ORF190 Ala42Thr A42T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF175 Gln519Arg Q519R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10540 0.000189753 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTGER3 Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10744 0.00130305 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRIQ3 Ile398Val I398V not reviewed Insufficiently evaluated not reviewed unknown Array rs17094779 280 9564 0.0292765 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - C1ORF173 Ala811Ser A811S not reviewed Insufficiently evaluated not reviewed unknown Array 278 10758 0.0258412 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTLL7 Val770Ile V770I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - COL24A1 Ala814Asp A814D not reviewed Insufficiently evaluated not reviewed unknown Array 51 9408 0.00542092 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CCBL2 Gly267Ala G267A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - GBP6 Glu471Lys E471K not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ABCA4 Val643Met V643M not reviewed Insufficiently evaluated not reviewed unknown Array rs61749417 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - AX747691 Ser165Thr S165T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FRRS1 Thr481Ile T481I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740680 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 3 - 0 N - - AGL Thr1477Ser T1477S not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y - -2 - 1 N - - DPH5 Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array 53 9646 0.00549451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - C1ORF194 Lys76Glu K76E not reviewed Insufficiently evaluated not reviewed unknown Array rs504815 104 7820 0.0132992 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF194 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array rs671287 101 7820 0.0129156 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OVGP1 Gly468Arg G468R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - LRIG2 Gly1030Arg G1030R not reviewed Insufficiently evaluated not reviewed unknown Array rs61751735 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NGF Val72Met V72M not reviewed Insufficiently evaluated not reviewed unknown Array rs11466110 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.74 Y - 0 - 2 N - - IGSF3 Trp595Arg W595R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HMGCS2 Gly89Ala G89A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PDE4DIP Arg419Leu R419L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10750 0.00269767 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.387 - - 6 Y 1 N - - CGN Arg796Gln R796Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - S100A11 Leu67Met L67M not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -3 - 0 N - - CRNN Glu416Lys E416K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - LCE5A Glu63Lys E63K not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND4B ArgArg515LeuGly RR515LG not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PBXIP1 Leu338His L338H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10706 0.00485709 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - DCST2 Ala566Val A566V not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - POU5F1P4 Gly16Ala G16A not reviewed Insufficiently evaluated not reviewed unknown Array rs28516425 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTA1 Asp1971Asn D1971N not reviewed Insufficiently evaluated not reviewed unknown Array 30 9712 0.00308896 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPTA1 Arg1133Pro R1133P not reviewed Insufficiently evaluated not reviewed unknown Array rs35733059 49 9640 0.00508299 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APCS Gly153Arg G153R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SLAMF9 Asp164His D164H not reviewed Insufficiently evaluated not reviewed unknown Array rs35438196 218 10758 0.020264 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - CASQ1 Tyr134Phe Y134F not reviewed Insufficiently evaluated not reviewed unknown Array rs34489853 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 2 N - - CD48 Ser8Leu S8L not reviewed Insufficiently evaluated not reviewed unknown Array rs34237772 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - LY9 Pro83Leu P83L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 7 Y 0 N - - ALDH9A1 Ala300Val A300V not reviewed Insufficiently evaluated not reviewed unknown Array rs55725612 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - ALDH9A1 Ile88Met I88M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - BLZF1 Lys370Asn K370N not reviewed Insufficiently evaluated not reviewed unknown Array 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 1 N - - FMO1 Lys373Arg K373R not reviewed Insufficiently evaluated not reviewed unknown Array rs28360421 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TNR Val669Ile V669I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC16B Pro433Leu P433L not reviewed Insufficiently evaluated not reviewed unknown Array 29 9896 0.00293048 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.046 - - 7 Y 0 N - - SEC16B Arg13Gln R13Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 9864 0.00233171 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - AL136902 Glu5Asp E5D not reviewed Insufficiently evaluated not reviewed unknown Array rs12083859 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF14 Ile249Thr I249T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HMCN1 Asn1971Lys N1971K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - NR5A2 Leu10Ile L10I not reviewed Insufficiently evaluated not reviewed unknown Array rs61755053 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ZC3H11A Lys441Arg K441R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - SOX13 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 14 9840 0.00142276 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3C2B Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array rs61761687 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMCC2 Ile210Val I210V not reviewed Insufficiently evaluated not reviewed unknown Array 59 10658 0.00553575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAIM3 Phe3Cys F3C not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - C1ORF116 Glu98Lys E98K not reviewed Insufficiently evaluated not reviewed unknown Array 60 10612 0.00565398 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR1L Arg97His R97H not reviewed Insufficiently evaluated not reviewed unknown Array 47 9682 0.00485437 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - RRP15 Lys117Asn K117N not reviewed Insufficiently evaluated not reviewed unknown Array 215 10756 0.0199888 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - MIA3 Asn589Tyr N589Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61738963 18 10158 0.001772 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - LEFTY1 Arg298Gln R298Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61739581 750 10746 0.0697934 6 0 9 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C1ORF131 Pro106Ala P106A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GNPAT Arg210Gln R210Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - KIAA1383 Ser579Phe S579F not reviewed Insufficiently evaluated not reviewed unknown Array rs61738408 113 9830 0.0114954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF31 Pro35Arg P35R not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZP4 Pro295Ser P295S not reviewed Insufficiently evaluated not reviewed unknown Array rs34811980 332 10758 0.0308608 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - ZP4 Ala114Val A114V not reviewed Insufficiently evaluated not reviewed unknown Array rs34370253 326 10758 0.030303 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2B11 Asn46Ser N46S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - OR6F1 Val154Met V154M not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2T8 His51Arg H51R not reviewed Insufficiently evaluated not reviewed unknown Array 8 106 0.0754717 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - OR2M3 Gln100His Q100H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.204 - - -1 - 1 N - - OR2T4 Arg325Lys R325K not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -3 - 2 N - - OR2T10 Val231Ala V231A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITIH5 Val798Ile V798I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FAM107B Leu271Val L271V not reviewed Insufficiently evaluated not reviewed unknown Array rs34265970 156 10758 0.0145008 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCLRE1C Ser320Cys S320C not reviewed Insufficiently evaluated not reviewed unknown Array rs41298896 140 10756 0.013016 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 3 - 3 N - - PLXDC2 Ala74Val A74V not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - NR_003525 Gly122Arg G122R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729260 14 3234 0.004329 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTCHD3 Leu60Pro L60P not reviewed Insufficiently evaluated not reviewed unknown Array 235 10680 0.0220037 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTCHD3 Glu55Lys E55K not reviewed Insufficiently evaluated not reviewed unknown Array 242 10656 0.0227102 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - PTCHD3 Ser53Pro S53P not reviewed Insufficiently evaluated not reviewed unknown Array 182 10702 0.0170062 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTCHD3 Pro21Arg P21R not reviewed Insufficiently evaluated not reviewed unknown Array 372 10758 0.0345789 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SVIL Ala1055Val A1055V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KIAA1462 Gly369Ser G369S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10420 0.00575816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - MTPAP Asp39Tyr D39Y not reviewed Insufficiently evaluated not reviewed unknown Array 299 10758 0.0277933 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 7 Y 0 N - - DQ575272 Arg129Leu R129L not reviewed Insufficiently evaluated not reviewed unknown Array rs34295855 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - ANUBL1 Thr301Ala T301A not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - PPYR1 Ile303Met I303M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - -1 - 2 N - - LRRC18 Thr139Met T139M not reviewed Insufficiently evaluated not reviewed unknown Array rs10776653 21 128 0.164062 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 1 N - - WDFY4 Val2688Ile V2688I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733228 16 3234 0.00494743 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF365 Arg302Cys R302C not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRGN Met2Thr M2T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL13A1 Ile633Thr I633T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9778 0.000306811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 3 - 2 N - - USP54 Gln1024His Q1024H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - -1 - 2 N - - SEC24C Pro255Ala P255A not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - MYST4 Ser1733Cys S1733C not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - OPN4 Pro476Leu P476L not reviewed Insufficiently evaluated not reviewed unknown Array rs35891072 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - LIPJ Met230Leu M230L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10746 0.00409455 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - -3 - 0 N - - C10ORF28 Ser261Gly S261G not reviewed Insufficiently evaluated not reviewed unknown Array rs35373035 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF76 Arg668Trp R668W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NRAP Ala82Val A82V not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VWA2 His496Tyr H496Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62640959 206 10758 0.0191485 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - AFAP1L2 Ser767Arg S767R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - ABLIM1 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array rs35474148 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC18A2 Gly150Arg G150R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GRK5 Leu141Ile L141I not reviewed Insufficiently evaluated not reviewed unknown Array rs56254855 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TACC2 Gly56Glu G56E not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 6 Y 1 N - - BTBD16 Arg14Trp R14W not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - DMBT1 Thr5Lys T5K not reviewed Insufficiently evaluated not reviewed unknown Array 4 9510 0.000420609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 3 - 1 N - - DMBT1 Ala31Thr A31T not reviewed Insufficiently evaluated not reviewed unknown Array rs59446434 138 10002 0.0137972 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.469 - - 1 - 1 N - - DMBT1 Asp668Asn D668N not reviewed Insufficiently evaluated not reviewed unknown Array 142 9994 0.0142085 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MKI67 Glu1107Asp E1107D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - -2 - 1 N - - GPR123 Cys274Tyr C274Y not reviewed Insufficiently evaluated not reviewed unknown Array 181 7762 0.0233187 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CALY Ala197Thr A197T not reviewed Insufficiently evaluated not reviewed unknown Array 61 2504 0.024361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYCE1 Lys6Arg K6R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ODF3 Asp175Asn D175N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - LRRC56 Leu128Val L128V not reviewed Insufficiently evaluated not reviewed unknown Array rs61747450 168 10756 0.0156192 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.505 - - 0 - 1 N - - MUC5AC Gly909Ser G909S not reviewed Insufficiently evaluated not reviewed unknown Array rs56179538 202 9248 0.0218426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Thr1469Asn T1469N not reviewed Insufficiently evaluated not reviewed unknown Array 31 9880 0.00313765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Gly3761Arg G3761R not reviewed Insufficiently evaluated not reviewed unknown Array 81 10320 0.00784884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP5-2 Arg35Cys R35C not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_021489 Gly160Ser G160S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPL23 Gly152Arg G152R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10722 0.00251819 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - STIM1 Ala452Gly A452G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STIM1 Thr504Met T504M not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RRM1 Arg497His R497H not reviewed Insufficiently evaluated not reviewed unknown Array rs72555793 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.678 - - 1 - 1 N - - HBBP1 Leu60Ser L60S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729466 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR51M1 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR51M1 Pro165Leu P165L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR51I1 Thr7Asn T7N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - OR56B1 Arg323Ser R323S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM160A2 Arg459Cys R459C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.9 - - 8 Y 2 N - - CCKBR Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10720 0.00158582 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - CCKBR Ala212Glu A212E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AB290171 Leu1041Pro L1041P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AB290171 Ile1095Thr I1095T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AB290171 Pro1861Leu P1861L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR2D3 Ala316Val A316V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF215 Val38Ile V38I not reviewed Insufficiently evaluated not reviewed unknown Array rs35111903 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF215 Met119Thr M119T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729853 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.66 - - 2 - 1 N - - EIF3F Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array 8 9322 0.000858184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EIF3F Ala76Gly A76G not reviewed Insufficiently evaluated not reviewed unknown Array 141 9852 0.0143118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF17 Asp199Asn D199N not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C11ORF16 Gly402Arg G402R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRIP3 Asp221Glu D221E not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - USP47 Ser55Gly S55G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729667 9 9662 0.000931484 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MICAL2 Arg622Leu R622L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - BC136797 Arg324Gln R324Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.458 - - 0 - 1 N - - MRGPRX3 Thr298Pro T298P not reviewed Insufficiently evaluated not reviewed unknown Array 328 10756 0.0304946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPTY2D1 Pro435Arg P435R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.287 - - 5 Y 1 N - - LUZP2 Ser89Ala S89A not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - CD44 Arg463Gln R463Q not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CREB3L1 Ile515Ser I515S not reviewed Insufficiently evaluated not reviewed unknown Array rs73464035 293 10054 0.0291426 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AGBL2 Leu176Arg L176R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.654 - - 6 Y 1 N - - OR4C45 Leu252Met L252M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TNKS1BP1 Arg233Gln R233Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC43A3 Gly121Ala G121A not reviewed Insufficiently evaluated not reviewed unknown Array rs62623667 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC43A1 Leu40Met L40M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - -3 - 1 N - - OR1S1 Gln103Arg Q103R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - OR5B21 Ile279Phe I279F not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - LPXN Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - OR4D11 Ala143Gly A143G not reviewed Insufficiently evaluated not reviewed unknown Array 287 10758 0.0266778 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GIF Asn255Ser N255S not reviewed Insufficiently evaluated not reviewed unknown Array rs35867471 317 10758 0.0294664 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 - - 0 - 0 N - - MS4A7 Glu34Lys E34K not reviewed Insufficiently evaluated not reviewed unknown Array rs2233241 586 10758 0.0544711 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.88 - - 0 - 1 N - - SCGB1D1 Ala55Val A55V not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - AHNAK Ala2624Asp A2624D not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 5 Y 1 N - - TUT1 Asp687Glu D687E not reviewed Insufficiently evaluated not reviewed unknown Array rs34320415 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DQ893983 Arg57His R57H not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FERMT3 Ala246Thr A246T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNX15 Arg334His R334H not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NAALADL1 Arg455Thr R455T not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZFPL1 Asp138Asn D138N not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - POLA2 Ser588Asn S588N not reviewed Insufficiently evaluated not reviewed unknown Array rs7123885 192 10758 0.0178472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SLC25A45 Arg251Gln R251Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7108281 142 10544 0.0134674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - EHBP1L1 Gly517Arg G517R not reviewed Insufficiently evaluated not reviewed unknown Array 45 9886 0.00455189 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 6 Y 2 N - - SYT12 Asn170His N170H not reviewed Insufficiently evaluated not reviewed unknown Array rs11227664 722 10758 0.0671128 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KRTAP5-10 Gly36Arg G36R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10630 0.00253998 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2CD3 Arg390Lys R390K not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BX647206 His28Arg H28R not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BX647206 Ala368Thr A368T not reviewed Insufficiently evaluated not reviewed unknown Array rs58488157 17 3234 0.00525665 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF169 Ile345Thr I345T not reviewed Insufficiently evaluated not reviewed unknown Array 128 10124 0.0126432 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - GDPD4 Thr510Ile T510I not reviewed Insufficiently evaluated not reviewed unknown Array 88 10756 0.00818148 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - GDPD4 Ile401Thr I401T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 3 - 2 N - - TRIM49 Ser298Asn S298N not reviewed Insufficiently evaluated not reviewed unknown Array rs672762 4 114 0.0350877 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM49 Glu375Ala E375A not reviewed Insufficiently evaluated not reviewed unknown Array rs570297 4 118 0.0338983 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM49 Ile383Val I383V not reviewed Insufficiently evaluated not reviewed unknown Array rs570208 4 102 0.0392157 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAT3 Ala4443Thr A4443T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10120 0.00928854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1731 Asn2053Tyr N2053Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - CEP57 Ile327Val I327V not reviewed Insufficiently evaluated not reviewed unknown Array rs35604386 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CWF19L2 Thr22Ile T22I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALKBH8 Gly612Cys G612C not reviewed Insufficiently evaluated not reviewed unknown Array rs61749473 51 3234 0.0157699 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DDX10 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGAP20 Asn227Ser N227S not reviewed Insufficiently evaluated not reviewed unknown Array 55 10652 0.00516335 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - BCO2 Thr38Ser T38S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMPRSS5 Ala211Val A211V not reviewed Insufficiently evaluated not reviewed unknown Array rs61995945 39 9700 0.00402062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PHLDB1 Glu1062Gly E1062G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - VPS11 Arg530Gln R530Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10S1 Ala170Thr A170T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CCDC15 Pro217Leu P217L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9496 0.000315922 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 7 Y 2 N - - KIRREL3 Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array 405 9952 0.0406953 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIRREL3 Val151Ile V151I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10194 0.00029429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - DCP1B Cys369Tyr C369Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746572 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NDUFA9 Ala5Pro A5P not reviewed Insufficiently evaluated not reviewed unknown Array rs35155742 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 2 - 0 N - - BC036226 Ala17Val A17V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - A2ML1 Ala751Val A751V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741216 100 10278 0.00972952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - C12ORF36 Phe64Ile F64I not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ART4 Gly108Val G108V not reviewed Insufficiently evaluated not reviewed unknown Array rs28362797 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ERP27 Phe52Leu F52L not reviewed Insufficiently evaluated not reviewed unknown Array rs35030722 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.538 - - 0 - 1 N - - ITPR2 Ala1898Val A1898V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230382 309 9784 0.0315822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAR2 Ala48Ser A48S not reviewed Insufficiently evaluated not reviewed unknown Array rs73063608 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OVCH1 Asp709Gly D709G not reviewed Insufficiently evaluated not reviewed unknown Array 21 9950 0.00211055 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 4 Y 0 N - - NM_001080502 His451Gln H451Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF35 Ile202Val I202V not reviewed Insufficiently evaluated not reviewed unknown Array rs12320740 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C12ORF40 Ser402Cys S402C not reviewed Insufficiently evaluated not reviewed unknown Array 68 9200 0.0073913 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC38A1 Val395Met V395M not reviewed Insufficiently evaluated not reviewed unknown Array 49 9778 0.00501125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - HDAC7 Phe334Leu F334L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - DDN Trp139Arg W139R not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC4A8 Ile898Val I898V not reviewed Insufficiently evaluated not reviewed unknown Array rs12318785 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRT3 Ser85Asn S85N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT18 Ile150Val I150V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - -4 - 2 N - - TENC1 Pro758Arg P758R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - SOAT2 Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array rs34267314 34 8922 0.0038108 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - CALCOCO1 Thr639Pro T639P not reviewed Insufficiently evaluated not reviewed unknown Array rs34281379 177 10756 0.0164559 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HOXC12 Gly104Arg G104R not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.354 - - 6 Y 1 N - - MMP19 Pro488Thr P488T not reviewed Insufficiently evaluated not reviewed unknown Array rs17118042 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TIMELESS Val840Leu V840L not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - NACA Ala1286Asp A1286D not reviewed Insufficiently evaluated not reviewed unknown Array 42 7290 0.00576132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SDR9C7 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZBTB39 Ala514Val A514V not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - AK094231 Thr10Ile T10I not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SHMT2 Ala428Thr A428T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OS9 Ser454Leu S454L not reviewed Insufficiently evaluated not reviewed unknown Array rs34764811 267 10758 0.0248187 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - CR613142 Val73Ala V73A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MDM1 Arg274His R274H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 1 - 1 N - - LGR5 Thr346Pro T346P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - TSPAN19 Gln148Arg Q148R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735122 39 9474 0.00411653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - C12ORF50 Leu148Ser L148S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737264 205 10758 0.0190556 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLLU1 Pro14Arg P14R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APAF1 Leu898Val L898V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - ANKS1B Val288Met V288M not reviewed Insufficiently evaluated not reviewed unknown Array 71 9584 0.00740818 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NR1H4 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC064342 Asn81Ser N81S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSH1 Leu715Val L715V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739305 310 10758 0.0288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - OAS1 Gly352Ser G352S not reviewed Insufficiently evaluated not reviewed unknown Array rs11836381 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OAS3 Ala49Thr A49T not reviewed Insufficiently evaluated not reviewed unknown Array rs62623451 57 9314 0.00611982 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001083900 Gln530Pro Q530P not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001083900 His1170Arg H1170R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001083900 Val1543Ile V1543I not reviewed Insufficiently evaluated not reviewed unknown Array rs60509888 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001083900 Arg1764Gln R1764Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56096831 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Leu2335His L2335H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730202 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001083900 Asn2483Ser N2483S not reviewed Insufficiently evaluated not reviewed unknown Array rs11835416 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX51 Glu396Lys E396K not reviewed Insufficiently evaluated not reviewed unknown Array 103 9970 0.010331 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - DDX51 Gly160Ser G160S not reviewed Insufficiently evaluated not reviewed unknown Array 120 7674 0.0156372 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - NOC4L Glu148Gly E148G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10712 0.000466766 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - ANKLE2 Ala937Thr A937T not reviewed Insufficiently evaluated not reviewed unknown Array 9 9552 0.000942211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRY Tyr2247Cys Y2247C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 6 Y 0 N - - KL Arg199Cys R199C not reviewed Insufficiently evaluated not reviewed unknown Array 83 9834 0.00844011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - 8 Y 1 N - - FREM2 His874Tyr H874Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.064 Y - -1 - 1 N - - AKAP11 Ala1372Thr A1372T not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - C13ORF18 His171Leu H171L not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GUCY1B2 Gln20Arg Q20R not reviewed Insufficiently evaluated not reviewed unknown Array rs12100443 23 3234 0.00711193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK5 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - NEK3 Ser14Phe S14F not reviewed Insufficiently evaluated not reviewed unknown Array 8 9854 0.000811853 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AX747962 Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array rs74095313 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NDFIP2 Ser6Asn S6N not reviewed Insufficiently evaluated not reviewed unknown Array 26 7980 0.00325814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF39 Ile128Thr I128T not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AL833908 Asn518Ser N518S not reviewed Insufficiently evaluated not reviewed unknown Array rs58979683 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARGLU1 His14Pro H14P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CARS2 Arg378Cys R378C not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - OR4N2 Met118Arg M118R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - KLHL33 Arg396His R396H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNASE13 Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 7 Y 0 N - - OR10G2 Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC153822 Thr350Ala T350A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC153822 Arg310Gln R310Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17126612 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THTPA His163Arg H163R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - LRRC16B Ser1040Leu S1040L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10644 0.00394589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HEATR5A Ala1350Gly A1350G not reviewed Insufficiently evaluated not reviewed unknown Array rs17091516 254 9706 0.0261694 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NIN Asn2023Ser N2023S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747997 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NIN Thr1968Met T1968M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744312 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - NID2 Met1155Ile M1155I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - -1 - 0 N - - SOCS4 Glu182Asp E182D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - KTN1 Thr329Ala T329A not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HSPA2 Glu111Gln E111Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - SPTB Ser2161Arg S2161R not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPTB Gly1894Arg G1894R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR594591 Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFYVE26 Arg255Gln R255Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y - 0 - 1 N - - SLC10A1 Ile223Thr I223T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745930 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - ACOT6 Ile70Val I70V not reviewed Insufficiently evaluated not reviewed unknown Array 192 10758 0.0178472 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COQ6 Thr395Met T395M not reviewed Insufficiently evaluated not reviewed unknown Array rs34746680 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.144 - - 2 - 0 N - - MLH3 Ser727Asn S727N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK9 Leu962Phe L962F not reviewed Insufficiently evaluated not reviewed unknown Array rs61745420 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - C14ORF159 Arg10Cys R10C not reviewed Insufficiently evaluated not reviewed unknown Array rs10142502 235 10758 0.0218442 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF159 Thr251Ala T251A not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIP11 Glu506Ala E506A not reviewed Insufficiently evaluated not reviewed unknown Array rs2273186 106 10748 0.0098623 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERPINA5 Gly217Arg G217R not reviewed Insufficiently evaluated not reviewed unknown Array rs6114 302 10758 0.0280721 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - C14ORF49 Ile946Val I946V not reviewed Insufficiently evaluated not reviewed unknown Array rs10130647 169 10758 0.0157092 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TECPR2 Ala1215Thr A1215T not reviewed Insufficiently evaluated not reviewed unknown Array rs5811071 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TDRD9 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.627 - - 7 Y 1 N - - KIF26A Glu937Gly E937G not reviewed Insufficiently evaluated not reviewed unknown Array 65 9780 0.00664622 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - KIF26A Ser1104Asn S1104N not reviewed Insufficiently evaluated not reviewed unknown Array 11 9316 0.00118076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - KIF26A Arg1125Leu R1125L not reviewed Insufficiently evaluated not reviewed unknown Array 81 9598 0.00843926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - AHNAK2 Ser3000Leu S3000L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10040 0.000398406 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - AHNAK2 Lys2908Glu K2908E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - AHNAK2 Ala1638Val A1638V not reviewed Insufficiently evaluated not reviewed unknown Array 30 9708 0.00309023 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGHE Trp348Gly W348G not reviewed Insufficiently evaluated not reviewed unknown Array rs61675149 320 10316 0.0310198 11 0 12 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGHE Ala344Val A344V not reviewed Insufficiently evaluated not reviewed unknown Array rs57724657 296 10212 0.0289855 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.044 - - 2 - 0 N - - CR619482 Arg25Trp R25W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C15ORF2 Phe216Ile F216I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP10A Met1265Ile M1265I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - APBA2 Ser144Leu S144L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - AVEN Gln228Trp Q228W not reviewed Insufficiently evaluated not reviewed unknown Array rs2241647 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C15ORF55 Arg507Trp R507W not reviewed Insufficiently evaluated not reviewed unknown Array rs78073896 268 10758 0.0249117 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C15ORF54 Arg147Ser R147S not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSIP1 Lys277Glu K277E not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - FSIP1 Asn64Asp N64D not reviewed Insufficiently evaluated not reviewed unknown Array rs1166719 80 10758 0.00743633 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.121 - - -1 - 0 N - - RAD51 Ile122Val I122V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - ZFYVE19 Leu72Val L72V not reviewed Insufficiently evaluated not reviewed unknown Array 446 10270 0.0434275 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGA Thr2923Pro T2923P not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPTBN5 Leu1201Pro L1201P not reviewed Insufficiently evaluated not reviewed unknown Array rs61746215 203 10466 0.0193961 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GANC Ile153Met I153M not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZFP106 Ser1572Cys S1572C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - ZFP106 Pro1297Ala P1297A not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HAUS2 Phe84Leu F84L not reviewed Insufficiently evaluated not reviewed unknown Array rs35404961 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 0 - 1 N - - STARD9 Glu59Lys E59K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPB42 Ser10Leu S10L not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TP53BP1 Ser1168Ala S1168A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - CATSPER2 Ser407Thr S407T not reviewed Insufficiently evaluated not reviewed unknown Array 209 10704 0.0195254 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y -2 - 1 N - - CTDSPL2 Ala244Val A244V not reviewed Insufficiently evaluated not reviewed unknown Array rs871923 137 10758 0.0127347 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SECISBP2L Gly994Val G994V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC004103 Ala30Val A30V not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP50 Arg306Gln R306Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 9578 0.00271455 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 0 - 1 N - - AP4E1 Asn428Ser N428S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AP4E1 Met919Val M919V not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Thr1485Ala T1485A not reviewed Insufficiently evaluated not reviewed unknown Array rs8026956 103 10756 0.00957605 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HERC1 Ala2816Thr A2816T not reviewed Insufficiently evaluated not reviewed unknown Array rs35122568 53 10234 0.00517882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - DENND4A Arg1222His R1222H not reviewed Insufficiently evaluated not reviewed unknown Array 40 9902 0.00403959 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - AAGAB Asn228Asp N228D not reviewed Insufficiently evaluated not reviewed unknown Array rs36096355 55 9882 0.00556567 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.056 - - -1 - 0 N - - UACA Asn765His N765H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10750 0.004 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - MYO9A His2445Asn H2445N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM202 Arg27Thr R27T not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.844 - - 3 - 1 N - - ADPGK Phe24Leu F24L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF60 Val148Met V148M not reviewed Insufficiently evaluated not reviewed unknown Array rs12102004 334 9990 0.0334334 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA6A His156Arg H156R not reviewed Insufficiently evaluated not reviewed unknown Array 2 54 0.037037 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAN2C1 Arg419Leu R419L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 6 Y 1 N - - FBXO22 Ile270Thr I270T not reviewed Insufficiently evaluated not reviewed unknown Array rs35659477 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - NM_024776 Pro1408Gln P1408Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56079860 218 9900 0.0220202 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - ADAMTS7 Ala1089Val A1089V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10702 0.00420482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS7 Val537Met V537M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTSH Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs35001431 4 98 0.0408163 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMC3 Ala113Thr A113T not reviewed Insufficiently evaluated not reviewed unknown Array 138 10062 0.013715 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE8A Ile228Thr I228T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - ACAN Arg617His R617H not reviewed Insufficiently evaluated not reviewed unknown Array rs34616796 258 9956 0.025914 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAN Gly1729Val G1729V not reviewed Insufficiently evaluated not reviewed unknown Array rs34124958 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACAN Gly1880Ser G1880S not reviewed Insufficiently evaluated not reviewed unknown Array rs34546634 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACAN Pro1938Leu P1938L not reviewed Insufficiently evaluated not reviewed unknown Array rs35061438 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HAPLN3 Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.162 - - 0 - 0 N - - KIF7 Arg378Thr R378T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF7 Arg233Trp R233W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR93 Asp590Glu D590E not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - C15ORF38 Asn246Ser N246S not reviewed Insufficiently evaluated not reviewed unknown Array rs11558580 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGF1R Gln872Glu Q872E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - CCDC78 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array rs61998220 53 10750 0.00493023 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CHTF18 Cys763Ser C763S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741082 286 10396 0.0275106 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.314 - - 3 - 1 N - - UNKL Gly58Ala G58A not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF91 Ile207Thr I207T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT140 Asp640Asn D640N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742753 269 10758 0.0250046 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CRAMP1L Ile979Thr I979T not reviewed Insufficiently evaluated not reviewed unknown Array rs59339153 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRC3 Asp716Glu D716E not reviewed Insufficiently evaluated not reviewed unknown Array 154 9966 0.0154525 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - SLX4 Arg1372Gln R1372Q not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - SLX4 Ala916Ser A916S not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.257 - - -1 - 1 N - - PPL Thr593Ser T593S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CIITA Ser317Tyr S317Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 1 N - - PRM1 Arg17Cys R17C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TXNDC11 Leu709Val L709V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDR2 Ala247Val A247V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ZKSCAN2 Pro947Ser P947S not reviewed Insufficiently evaluated not reviewed unknown Array rs7197424 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GTF3C1 Arg1763Cys R1763C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATP2A1 Pro540Leu P540L not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 7 Y 0 N - - SRCAP Pro2788Leu P2788L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C16ORF58 Arg313His R313H not reviewed Insufficiently evaluated not reviewed unknown Array rs34309878 51 10758 0.00474066 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AHSP Pro100Thr P100T not reviewed Insufficiently evaluated not reviewed unknown Array rs36018996 98 10758 0.0091095 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCC12 Glu690Val E690V not reviewed Insufficiently evaluated not reviewed unknown Array rs34135219 452 10758 0.0420152 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.054 - - 5 Y 0 N - - ZNF423 Asn629Ser N629S not reviewed Insufficiently evaluated not reviewed unknown Array rs34214571 320 10758 0.0297453 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRD7 Ala539Thr A539T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 1 - 2 N - - CES1 Ala270Ser A270S not reviewed Insufficiently evaluated not reviewed unknown Array 535 10758 0.0497304 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CES5A His344Gln H344Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11860946 635 10758 0.0590258 7 0 10 0 0 - - - - - - - - - - - - - - - - 0.049 - - -1 - 0 N - - CPNE2 Glu53Asp E53D not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KATNB1 Val483Ala V483A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729337 412 10758 0.0382971 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - SETD6 Thr402Ala T402A not reviewed Insufficiently evaluated not reviewed unknown Array rs34965375 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CENPT Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array 37 9912 0.00373285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - DDX28 Gln114His Q114H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10614 0.00405125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FUK Arg571His R571H not reviewed Insufficiently evaluated not reviewed unknown Array rs17886171 2 7402 0.000270197 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MTSS1L Arg308His R308H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.169 - - 1 - 0 N - - HYDIN Gly2728Arg G2728R not reviewed Insufficiently evaluated not reviewed unknown Array 31 9330 0.00332262 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HYDIN Thr1183Ile T1183I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - ZNF19 Cys415Gly C415G not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHLPP2 Val1282Ile V1282I not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNL4B Ile119Met I119M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.386 - - -1 - 1 N - - LDHD Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAT1 Pro225Ala P225A not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - PKD1L2 Gln1307Arg Q1307R not reviewed Insufficiently evaluated not reviewed unknown Array 140 10406 0.0134538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Phe695Leu F695L not reviewed Insufficiently evaluated not reviewed unknown Array 127 10318 0.0123086 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Leu468Val L468V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10088 0.00237906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Cys324Tyr C324Y not reviewed Insufficiently evaluated not reviewed unknown Array 31 10674 0.00290425 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC50 Asp246Asn D246N not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KIAA0182 Gly444Ser G444S not reviewed Insufficiently evaluated not reviewed unknown Array rs35446008 147 10754 0.0136693 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KLHDC4 Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - KLHDC4 Gly146Glu G146E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - ZNF469 Pro1189Leu P1189L not reviewed Insufficiently evaluated not reviewed unknown Array 40 3232 0.0123762 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - FAM38A Arg1458Gln R1458Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Gly1007Asp G1007D not reviewed Insufficiently evaluated not reviewed unknown Array rs8051003 5 124 0.0403226 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDT1 Ala135Val A135V not reviewed Insufficiently evaluated not reviewed unknown Array rs3218725 39 10738 0.00363196 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - BC089450 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array rs3169375 9 128 0.0703125 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GEMIN4 Gln281Lys Q281K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RILP Leu391Val L391V not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - NM_001025459 Arg29Leu R29L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZZEF1 His1597Arg H1597R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYBBP1A Val337Met V337M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PELP1 Arg393His R393H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9978 0.00010022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - KIF1C Pro909Gln P909Q not reviewed Insufficiently evaluated not reviewed unknown Array 359 10758 0.0333705 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.108 - - 4 Y 0 N - - ZNF594 Pro803Thr P803T not reviewed Insufficiently evaluated not reviewed unknown Array 37 10188 0.00363172 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - C17ORF100 Ser56Leu S56L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9516 0.00126103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK096645 Ser89Phe S89F not reviewed Insufficiently evaluated not reviewed unknown Array rs2270981 8 126 0.0634921 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - EFNB3 Gly174Ala G174A not reviewed Insufficiently evaluated not reviewed unknown Array 94 10750 0.00874419 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNTROB Arg202Leu R202L not reviewed Insufficiently evaluated not reviewed unknown Array rs61747003 263 10758 0.0244469 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.876 - - 6 Y 2 N - - CNTROB Arg439Gln R439Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35421969 266 10758 0.0247258 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ARHGEF15 Ser832Pro S832P not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 1 N - - ARHGEF15 Thr835Asn T835N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - WDR16 Val603Ala V603A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 2 - 1 N - - MYH8 Lys46Arg K46R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.907 Y - -3 - 3 N - - MYH4 Arg1862Ser R1862S not reviewed Insufficiently evaluated not reviewed unknown Array rs34260986 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - BC156586 Arg204Gln R204Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - DNAH9 Asn1618His N1618H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - NM_001001684 Ser68Asn S68N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001001684 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array rs73278754 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CDRT4 Thr129Ala T129A not reviewed Insufficiently evaluated not reviewed unknown Array rs35353219 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF624 Ile208Val I208V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LLGL1 Asn35Ser N35S not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC026998 His262Tyr H262Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC070367 Leu149Arg L149R not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEZ6 Asn968Pro N968P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NUFIP2 Tyr265Cys Y265C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - NUFIP2 Leu108Ser L108S not reviewed Insufficiently evaluated not reviewed unknown Array 81 10750 0.00753488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 6 Y 0 N - - NUFIP2 Ser15Asn S15N not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC37BP1 Ala19Ser A19S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC37BP1 Ala175Pro A175P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATAD5 Leu1030Phe L1030F not reviewed Insufficiently evaluated not reviewed unknown Array rs35910070 72 10754 0.00669518 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - MYO1D Asn229Ile N229I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740314 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - ACACA Gln105Leu Q105L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743749 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR179 Ala520Ser A520S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10508 0.00133232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - KRT27 Ile191Leu I191L not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - -2 - 0 N - - KRTAP4-11 Leu188Val L188V not reviewed Insufficiently evaluated not reviewed unknown Array 75 3234 0.0231911 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBR1 Gln221Arg Q221R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NBR1 Met623Val M623V not reviewed Insufficiently evaluated not reviewed unknown Array rs34372250 67 7820 0.00856777 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPATCH8 Glu313Asp E313D not reviewed Insufficiently evaluated not reviewed unknown Array rs61742272 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIGD1B Asp95Asn D95N not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.256 - - -1 - 1 N - - SH3D20 Ala233Pro A233P not reviewed Insufficiently evaluated not reviewed unknown Array 334 10178 0.0328159 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_175882 Pro411Ala P411A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - LRRC37A2 Gly1207Thr G1207T not reviewed Insufficiently evaluated not reviewed unknown Array rs1863117 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HOXB7 Arg189Cys R189C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CACNA1G Arg567Cys R567C not reviewed Insufficiently evaluated not reviewed unknown Array rs60802569 84 9888 0.00849514 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - SPAG9 Ala267Thr A267T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR4D2 Phe114Leu F114L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - RAD51C Ala308Ser A308S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -1 - 0 N - - PRR11 Gly45Ser G45S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRR11 Phe64Leu F64L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - MRC2 Ala1431Thr A1431T not reviewed Insufficiently evaluated not reviewed unknown Array rs34850824 100 10736 0.00931446 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNH6 Asp843Glu D843E not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - ABCA8 Arg964Gln R964Q not reviewed Insufficiently evaluated not reviewed unknown Array 43 10754 0.00399851 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GRIN2C Thr1196Ile T1196I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10730 0.00326188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASKIN2 Lys149Arg K149R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - RECQL5 Ala765Thr A765T not reviewed Insufficiently evaluated not reviewed unknown Array 61 9872 0.00617909 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RECQL5 His758Tyr H758Y not reviewed Insufficiently evaluated not reviewed unknown Array 62 9922 0.00624874 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.837 - - -1 - 1 N - - FBF1 Trp1078Ser W1078S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10232 0.00488663 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - 7 Y 0 N - - FOXJ1 Thr291Ser T291S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10258 0.00136479 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - QRICH2 Arg997Gln R997Q not reviewed Insufficiently evaluated not reviewed unknown Array 622 10758 0.0578174 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - QRICH2 Arg572Cys R572C not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 8 Y 2 N - - PRCD Leu124Ile L124I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMC8 Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 6 Y 0 N - - AL832652 His625Tyr H625Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34294664 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH17 Gln124Arg Q124R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747155 167 10756 0.0155262 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEH1L Cys30Tyr C30Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - OSBPL1A Ile760Val I760V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.41 - - -4 - 1 N - - SETBP1 Asp309Tyr D309Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOXHD1 Ala125Val A125V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCEB3B Glu12Gly E12G not reviewed Insufficiently evaluated not reviewed unknown Array 3 76 0.0394737 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - MYO5B Arg911Leu R911L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10086 0.00674202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALPK2 Arg765Cys R765C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 8 Y 2 N - - ALPK2 Pro190Thr P190T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10410 0.000480307 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - ZCCHC2 Pro1004Leu P1004L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10572 0.00406735 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - RBFA Val122Met V122M not reviewed Insufficiently evaluated not reviewed unknown Array rs748338 368 10758 0.0342071 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - POLRMT Glu947Lys E947K not reviewed Insufficiently evaluated not reviewed unknown Array 74 10614 0.00697192 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - TMIGD2 Phe191Leu F191L not reviewed Insufficiently evaluated not reviewed unknown Array rs28638429 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Val1179Ile V1179I not reviewed Insufficiently evaluated not reviewed unknown Array 330 10132 0.0325701 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.296 - - -4 - 1 N - - PLIN4 Val917Ile V917I not reviewed Insufficiently evaluated not reviewed unknown Array 227 10440 0.0217433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - PLIN4 Val800Ala V800A not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.172 - - 2 - 0 N - - PLIN4 Ala793Val A793V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Ile371Val I371V not reviewed Insufficiently evaluated not reviewed unknown Array 14 9258 0.0015122 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLIN4 Glu369Gly E369G not reviewed Insufficiently evaluated not reviewed unknown Array 5 9258 0.000540073 3 0 6 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - PLIN4 Gly362Ser G362S not reviewed Insufficiently evaluated not reviewed unknown Array 127 9474 0.0134051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - PLIN4 Thr347Ile T347I not reviewed Insufficiently evaluated not reviewed unknown Array 5 92 0.0543478 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.26 - - 3 - 0 N - - C3 Glu469Asp E469D not reviewed Insufficiently evaluated not reviewed unknown Array rs11569422 159 10758 0.0147797 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - EMR1 Ile621Val I621V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733003 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INSR Leu991Ile L991I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10728 0.00205071 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.144 Y - -2 - 1 N - - FBN3 Gly1801Arg G1801R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735544 471 10758 0.0437814 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD320 Leu249Phe L249F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - PRAM1 Ser260Arg S260R not reviewed Insufficiently evaluated not reviewed unknown Array 259 10588 0.0244617 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO1F Ile971Asn I971N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Thr7603Ser T7603S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10022 0.00279385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR1M1 Thr25Met T25M not reviewed Insufficiently evaluated not reviewed unknown Array rs61738474 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - 2 - 1 N - - ICAM5 Gly533Arg G533R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDE4A Glu732Gly E732G not reviewed Insufficiently evaluated not reviewed unknown Array rs62638759 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK6 Ala1632Val A1632V not reviewed Insufficiently evaluated not reviewed unknown Array 109 10138 0.0107516 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC159 Val154Leu V154L not reviewed Insufficiently evaluated not reviewed unknown Array rs36097565 10 126 0.0793651 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF491 His401Arg H401R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ZNF439 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - ZNF700 Arg389Pro R389P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - ZNF443 Thr497Ala T497A not reviewed Insufficiently evaluated not reviewed unknown Array 80 10756 0.00743771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.119 - - 1 - 0 N - - SAMD1 Ala303Val A303V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKN1 Asp114Tyr D114Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTGER1 His256Arg H256R not reviewed Insufficiently evaluated not reviewed unknown Array rs7249305 633 8956 0.0706789 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CYP4F12 Leu30Ile L30I not reviewed Insufficiently evaluated not reviewed unknown Array 77 10746 0.00716546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CYP4F12 Glu134Asp E134D not reviewed Insufficiently evaluated not reviewed unknown Array 139 10752 0.0129278 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP4F12 Ile136Leu I136L not reviewed Insufficiently evaluated not reviewed unknown Array 147 10752 0.0136719 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP4F12 Ile406Val I406V not reviewed Insufficiently evaluated not reviewed unknown Array rs59302543 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - KIAA1683 Gly68Cys G68C not reviewed Insufficiently evaluated not reviewed unknown Array rs12462174 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF737 Arg228Trp R228W not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - ZNF430 Gly19Arg G19R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - ZNF430 Pro106Thr P106T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.07 - - 4 Y 0 N - - ZNF430 Asn156Lys N156K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF430 Thr361Ala T361A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10726 0.00242402 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ZNF507 Leu950Val L950V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDT19 Arg210Gly R210G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RHPN2 Trp685Ser W685S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF599 Ala121Val A121V not reviewed Insufficiently evaluated not reviewed unknown Array rs62623436 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - FAM187B Ala49Val A49V not reviewed Insufficiently evaluated not reviewed unknown Array 324 10758 0.0301171 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - LSR Asp573Tyr D573Y not reviewed Insufficiently evaluated not reviewed unknown Array 29 10690 0.00271282 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - SBSN Ala250Val A250V not reviewed Insufficiently evaluated not reviewed unknown Array 92 3234 0.0284477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APLP1 Gly575Arg G575R not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HKR1 Gly28Arg G28R not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIPA1L3 Arg1330Leu R1330L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729146 121 10756 0.0112495 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 6 Y 2 N - - PAF1 Arg494Gln R494Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGBP Thr4043Asn T4043N not reviewed Insufficiently evaluated not reviewed unknown Array rs3746010 18 92 0.195652 9 0 16 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - ZNF546 His347Pro H347P not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ZNF780B Pro385Thr P385T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NUMBL Gln446Del Q446Del not reviewed Insufficiently evaluated not reviewed unknown Array rs62637692 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RAB4B Glu144Lys E144K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK097370 Ile36Met I36M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK097370 Cys34Arg C34R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK097370 Phe29Leu F29L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYPD4 Thr184Ser T184S not reviewed Insufficiently evaluated not reviewed unknown Array rs35476281 375 10758 0.0348578 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - -2 - 2 N - - PRR19 Pro330Ala P330A not reviewed Insufficiently evaluated not reviewed unknown Array rs1055512 389 10758 0.0361591 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.946 - - 2 - 2 N - - PSG5 Ile291Met I291M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10748 0.00427987 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.425 - - -1 - 1 N - - PSG9 Arg386Thr R386T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10604 0.0047152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD177 Cys203Phe C203F not reviewed Insufficiently evaluated not reviewed unknown Array 49 6060 0.00808581 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEACAM20 Arg334Gln R334Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742432 105 9814 0.010699 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC039061 Asp51Glu D51E not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EML2 Phe4Cys F4C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.739 - - 4 Y 1 N - - PTGIR Leu194Met L194M not reviewed Insufficiently evaluated not reviewed unknown Array 8 9990 0.0008008 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - -3 - 2 N - - PTGIR Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229127 156 9230 0.0169014 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - DACT3 Ala599Thr A599T not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STRN4 Ala98Thr A98T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEIS3P1 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ELSPBP1 Ser166Arg S166R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730507 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 3 - 1 N - - PLA2G4C Pro161Ala P161A not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP1R15A Arg618His R618H not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIGLEC11 Lys145Gln K145Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 82 0.134146 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SIGLEC11 Ser133Asn S133N not reviewed Insufficiently evaluated not reviewed unknown Array 6 124 0.0483871 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBPC2 Gly52Ser G52S not reviewed Insufficiently evaluated not reviewed unknown Array rs25669 108 9658 0.0111824 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYBPC2 Val939Met V939M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF75 Ser186Asn S186N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLDND2 Gly144Cys G144C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 2 N - - SIGLEC8 Gly276Ser G276S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.54 - - 2 - 1 N - - ZNF577 Ser256Leu S256L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF611 Glu340Gly E340G not reviewed Insufficiently evaluated not reviewed unknown Array rs4087790 57 10756 0.00529937 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 2 N - - AK127846 Val305Leu V305L not reviewed Insufficiently evaluated not reviewed unknown Array rs11882663 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK127846 Thr325Met T325M not reviewed Insufficiently evaluated not reviewed unknown Array rs11882631 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK056776 Pro129Ala P129A not reviewed Insufficiently evaluated not reviewed unknown Array 5 116 0.0431034 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF677 His79Arg H79R not reviewed Insufficiently evaluated not reviewed unknown Array 139 10736 0.0129471 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - ZNF765 Pro270Ser P270S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRA2 Tyr204His Y204H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CCDC106 Gly126Ala G126A not reviewed Insufficiently evaluated not reviewed unknown Array rs61736518 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - NLRP8 Pro126Arg P126R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739987 119 10758 0.0110615 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - ZFP28 Thr808Ser T808S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZSCAN4 Glu284Asp E284D not reviewed Insufficiently evaluated not reviewed unknown Array 293 10758 0.0272355 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - ZNF418 Ile41Met I41M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - -1 - 0 N - - BC025349 Thr22Met T22M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PXDN Arg1198Gln R1198Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6723697 142 10044 0.0141378 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM84A Lys102Thr K102T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NBAS Phe2130Leu F2130L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - DDX1 Lys702Asn K702N not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 1 - 1 N - - GEN1 Glu330Lys E330K not reviewed Insufficiently evaluated not reviewed unknown Array 68 10680 0.00636704 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF3C Lys455Asn K455N not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - C2ORF39 Gln303His Q303H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF39 Ala356Val A356V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLRC4 Gly211Glu G211E not reviewed Insufficiently evaluated not reviewed unknown Array rs34577313 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - FAM98A Tyr432Cys Y432C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001101330 Cys205Phe C205F not reviewed Insufficiently evaluated not reviewed unknown Array rs73923830 417 9900 0.0421212 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHH2 Glu970Asp E970D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.88 - - -2 - 2 N - - ABCG8 Met655Val M655V not reviewed Insufficiently evaluated not reviewed unknown Array rs9282573 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - C2ORF73 Ser110Leu S110L not reviewed Insufficiently evaluated not reviewed unknown Array rs13399371 68 9656 0.00704225 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF63 Pro344Ser P344S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - REL Pro393Arg P393R not reviewed Insufficiently evaluated not reviewed unknown Array rs34661029 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 5 Y 0 N - - B3GNT2 Pro54Arg P54R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - APLF Asn173Ser N173S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10754 0.00604426 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADD2 Leu278Val L278V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 2 N - - NAT8B Ser142Cys S142C not reviewed Insufficiently evaluated not reviewed unknown Array rs62622367 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQX1 Pro77Ser P77S not reviewed Insufficiently evaluated not reviewed unknown Array rs34825856 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AB290165 Glu625Gln E625Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73943384 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POLR1A Glu1491Gly E1491G not reviewed Insufficiently evaluated not reviewed unknown Array rs34373712 74 9852 0.00751116 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR1A Gln349Glu Q349E not reviewed Insufficiently evaluated not reviewed unknown Array rs17026866 39 10398 0.00375072 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IMMT Phe709Ser F709S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - TRIM43 Asn171Asp N171D not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001080535 Leu143Phe L143F not reviewed Insufficiently evaluated not reviewed unknown Array 1 56 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM131 Ala1199Thr A1199T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10540 0.0028463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR1B Pro546Ser P546S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NT5DC4 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array rs17042284 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NT5DC4 Ser294Pro S294P not reviewed Insufficiently evaluated not reviewed unknown Array rs58616713 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - PSD4 Glu47Lys E47K not reviewed Insufficiently evaluated not reviewed unknown Array rs45591931 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - PSD4 Arg637Gln R637Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45487591 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.102 - - 0 - 0 N - - NR_003947 Leu128Phe L128F not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IWS1 Thr721Ala T721A not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MYO7B Arg2106Pro R2106P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10002 0.00059988 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 2 N - - NCKAP5 Val1403Ala V1403A not reviewed Insufficiently evaluated not reviewed unknown Array rs2278752 448 10030 0.044666 7 0 8 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - RBM43 Ile259Val I259V not reviewed Insufficiently evaluated not reviewed unknown Array rs35749426 284 10756 0.0264039 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.366 - - -4 - 1 N - - DPP4 Ser437Thr S437T not reviewed Insufficiently evaluated not reviewed unknown Array rs1129599 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - XIRP2 Met4Val M4V not reviewed Insufficiently evaluated not reviewed unknown Array 152 9800 0.0155102 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOSTRIN Ala418Val A418V not reviewed Insufficiently evaluated not reviewed unknown Array 60 9680 0.00619835 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - FASTKD1 Lys45Thr K45T not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_016653 Arg580Trp R580W not reviewed Insufficiently evaluated not reviewed unknown Array rs7593622 163 10100 0.0161386 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - RBM45 Ile298Val I298V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SSFA2 Ile849Leu I849L not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAH7 Glu2243Asp E2243D not reviewed Insufficiently evaluated not reviewed unknown Array 13 9678 0.00134325 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.746 - - -2 - 1 N - - SATB2 Asn187His N187H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - PARD3B Met200Lys M200K not reviewed Insufficiently evaluated not reviewed unknown Array 64 9710 0.00659114 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.77 - - 4 Y 1 N - - ZDBF2 Arg1729His R1729H not reviewed Insufficiently evaluated not reviewed unknown Array 211 9666 0.0218291 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.749 - - 1 - 1 N - - CRYGB Arg60His R60H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - MAP2 Glu179Gly E179G not reviewed Insufficiently evaluated not reviewed unknown Array rs6749066 187 10758 0.0173824 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP2 His976Leu H976L not reviewed Insufficiently evaluated not reviewed unknown Array rs13425372 190 10758 0.0176613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BARD1 Glu580Lys E580K not reviewed Insufficiently evaluated not reviewed unknown Array rs35306212 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNS1 Arg754Cys R754C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNS1 Ala741Thr A741T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738776 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RUFY4 Asp23Val D23V not reviewed Insufficiently evaluated not reviewed unknown Array 264 10008 0.0263789 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CXCR1 Ser342Leu S342L not reviewed Insufficiently evaluated not reviewed unknown Array rs16858806 121 10758 0.0112474 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VIL1 Gly43Asp G43D not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - STK36 Met780Thr M780T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 2 - 2 N - - CCDC108 Ser1656Pro S1656P not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.354 - - 3 - 1 N - - ABCB6 Ala511Thr A511T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - ANKZF1 Tyr272Cys Y272C not reviewed Insufficiently evaluated not reviewed unknown Array rs61747683 118 9888 0.0119337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - DOCK10 Pro1785Gln P1785Q not reviewed Insufficiently evaluated not reviewed unknown Array 97 9716 0.00998353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR69 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR69 Ser103Leu S103L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.348 - - 6 Y 1 N - - USP40 Thr956Met T956M not reviewed Insufficiently evaluated not reviewed unknown Array rs34026756 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPM8 Asn821Ser N821S not reviewed Insufficiently evaluated not reviewed unknown Array rs28902201 93 10756 0.00864634 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - LRRFIP1 Arg755Gly R755G not reviewed Insufficiently evaluated not reviewed unknown Array rs3739039 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - BC047423 Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6B2 Arg91Cys R91C not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ANKMY1 Met547Thr M547T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - THAP4 Gly209Asp G209D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - ATG4B Asn330Ser N330S not reviewed Insufficiently evaluated not reviewed unknown Array 521 9872 0.0527755 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NEU4 Arg79Trp R79W not reviewed Insufficiently evaluated not reviewed unknown Array 20 8922 0.00224165 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF85 Gly277Cys G277C not reviewed Insufficiently evaluated not reviewed unknown Array 97 9834 0.00986374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C2ORF85 Val490Ile V490I not reviewed Insufficiently evaluated not reviewed unknown Array 111 10302 0.0107746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DEFB132 Cys49Arg C49R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.768 - - 8 Y 1 N - - SNPH Gly282Ser G282S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRPB2 Pro8Ala P8A not reviewed Insufficiently evaluated not reviewed unknown Array 43 7820 0.00549872 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - SIRPA Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDYN Gly36Cys G36C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 7 Y 1 N - - TGM3 Gly650Glu G650E not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF343 Pro260Leu P260L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 7 Y 1 N - - ITPA Glu93Gly E93G not reviewed Insufficiently evaluated not reviewed unknown Array rs34982958 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIGLEC1 Arg1487Trp R1487W not reviewed Insufficiently evaluated not reviewed unknown Array rs16988873 140 10754 0.0130184 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - RRBP1 Glu706Gln E706Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - BC150560 Leu54Phe L54F not reviewed Insufficiently evaluated not reviewed unknown Array rs6112031 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRN2 Arg925Cys R925C not reviewed Insufficiently evaluated not reviewed unknown Array rs6047420 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.835 - - 8 Y 1 N - - HCK Ala370Thr A370T not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - C20ORF186 Pro32Ser P32S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FER1L4 Thr96Met T96M not reviewed Insufficiently evaluated not reviewed unknown Array rs41293072 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FER1L4 Arg586Leu R586L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CPNE1 Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - CPNE1 Leu62Arg L62R not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.895 - - 6 Y 2 N - - LBP Ile364Thr I364T not reviewed Insufficiently evaluated not reviewed unknown Array rs2232615 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - PLCG1 Arg248Gln R248Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF111 Ala57Val A57V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEMG1 Arg357Gln R357Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730001 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - TP53TG5 Arg191His R191H not reviewed Insufficiently evaluated not reviewed unknown Array rs2231620 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX27 Ala73Val A73V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - DDX27 Ala721Thr A721T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP64 Val336Met V336M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - CTCFL Gln152His Q152H not reviewed Insufficiently evaluated not reviewed unknown Array rs61754541 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK097866 Leu26Phe L26F not reviewed Insufficiently evaluated not reviewed unknown Array rs73915369 7 128 0.0546875 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMA5 Asn3626Ser N3626S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10646 0.00253616 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 0 - 2 N - - DIDO1 Gly1717Asp G1717D not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCMTD2 Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - CHODL Pro215Ala P215A not reviewed Insufficiently evaluated not reviewed unknown Array 150 10752 0.0139509 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - MRPL39 Phe127Leu F127L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 0 - 1 N - - LTN1 Glu462Asp E462D not reviewed Insufficiently evaluated not reviewed unknown Array rs61472516 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP19-2 Tyr5His Y5H not reviewed Insufficiently evaluated not reviewed unknown Array rs7280687 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRTAP19-4 Arg50His R50H not reviewed Insufficiently evaluated not reviewed unknown Array rs8133502 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIAM1 Arg1536Trp R1536W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - 7 Y 1 N - - URB1 Val1873Ile V1873I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SON Thr870Ala T870A not reviewed Insufficiently evaluated not reviewed unknown Array rs11908823 404 10758 0.0375534 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 0 N - - CLIC6 Arg374Leu R374L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753641 48 9318 0.00515132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.909 - - 6 Y 2 N - - TTC3 Arg608His R608H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ETS2 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs34373350 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSMG1 Leu276Phe L276F not reviewed Insufficiently evaluated not reviewed unknown Array rs34970037 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - MX1 Ser634Thr S634T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - UMODL1 Thr672Met T672M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - C21ORF2 Gly153Ser G153S not reviewed Insufficiently evaluated not reviewed unknown Array rs9306099 321 10754 0.0298494 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C21ORF2 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array rs9976610 296 10718 0.0276171 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF29 Ser593Leu S593L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRTAP10-7 Asp36Ala D36A not reviewed Insufficiently evaluated not reviewed unknown Array rs59535157 284 9784 0.029027 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - KRTAP10-7 Ala337Gly A337G not reviewed Insufficiently evaluated not reviewed unknown Array 379 10690 0.0354537 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL18A1 Val905Met V905M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C21ORF56 Ala35Ser A35S not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCNT Ser970Phe S970F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.761 - - 5 Y 1 N - - PCNT Thr2754Ala T2754A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 - - 1 - 0 N - - CECR2 Leu138Val L138V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745636 220 10242 0.0214802 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB020626 Arg386Cys R386C not reviewed Insufficiently evaluated not reviewed unknown Array rs73382765 4 100 0.04 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DGCR6 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array rs16983281 201 10746 0.0187046 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ZNF74 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array 17 9740 0.00174538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB36 Pro50Leu P50L not reviewed Insufficiently evaluated not reviewed unknown Array rs9624036 93 10740 0.00865922 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.197 - - 7 Y 0 N - - BCR Glu185Asp E185D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CABIN1 Lys751Arg K751R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SUSD2 Asn305Ser N305S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - C22ORF36 Arg226Cys R226C not reviewed Insufficiently evaluated not reviewed unknown Array rs16978737 60 10532 0.00569692 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NM_001013618 Pro78Arg P78R not reviewed Insufficiently evaluated not reviewed unknown Array rs7291910 572 10754 0.0531895 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_001013618 Ser182Asn S182N not reviewed Insufficiently evaluated not reviewed unknown Array rs28391315 1406 10752 0.130766 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NM_001013618 Met185Val M185V not reviewed Insufficiently evaluated not reviewed unknown Array rs1064420 1454 10752 0.135231 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASCC2 Lys137Arg K137R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - LIF Ala139Thr A139T not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIF Ala94Thr A94T not reviewed Insufficiently evaluated not reviewed unknown Array 243 10758 0.0225878 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CCDC157 Gln131Arg Q131R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC157 Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array rs12167903 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMTN Arg511His R511H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC5A4 Arg300His R300H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - APOL3 Thr26Ala T26A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSF2RB Pro609Leu P609L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10268 0.000973899 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - C22ORF33 Ile57Ser I57S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C22ORF33 Ser17Leu S17L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL2RB Gly271Arg G271R not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - SSTR3 Arg414His R414H not reviewed Insufficiently evaluated not reviewed unknown Array rs4988471 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC16A8 Thr106Lys T106K not reviewed Insufficiently evaluated not reviewed unknown Array rs61737837 25 10672 0.00234258 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - 3 - 0 N - - AK307225 Thr76Met T76M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MKL1 Pro634Ser P634S not reviewed Insufficiently evaluated not reviewed unknown Array 96 10722 0.00895355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - CYP2D7P1 Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CYP2D7P1 Leu205Val L205V not reviewed Insufficiently evaluated not reviewed unknown Array 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NFAM1 Gly261Ala G261A not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - ARFGAP3 Ala482Thr A482T not reviewed Insufficiently evaluated not reviewed unknown Array rs36003980 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.688 - - 1 - 1 N - - PARVG Ser155Cys S155C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - BC036832 Val122Phe V122F not reviewed Insufficiently evaluated not reviewed unknown Array rs61998170 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZBED4 Met1150Thr M1150T not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTLL8 Lys410Arg K410R not reviewed Insufficiently evaluated not reviewed unknown Array rs61999353 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PANX2 Thr394Asn T394N not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM116B Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SBF1 Arg599Cys R599C not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.67 - - 8 Y 1 N - - CHL1 Ser30Ala S30A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10756 0.00818148 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.289 - - -1 - 1 N - - JAGN1 Ala135Thr A135T not reviewed Insufficiently evaluated not reviewed unknown Array rs61746084 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 1 - 0 N - - FBLN2 Arg158Trp R158W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10412 0.000576258 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBLN2 Asn886Lys N886K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731214 39 10670 0.00365511 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPRXL Ser209Thr S209T not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TPRXL Ser212Pro S212P not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD28 Thr784Met T784M not reviewed Insufficiently evaluated not reviewed unknown Array 36 9636 0.00373599 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RFTN1 Ser171Leu S171L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - EFHB Gln346Arg Q346R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOP2B Glu1612Asp E1612D not reviewed Insufficiently evaluated not reviewed unknown Array rs61739570 299 9652 0.030978 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.12 - - -2 - 0 N - - LRRFIP2 Lys143Glu K143E not reviewed Insufficiently evaluated not reviewed unknown Array rs34902788 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.196 - - 0 - 0 N - - VILL Ser506Phe S506F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.402 - - 5 Y 1 N - - DLEC1 Lys1022Asn K1022N not reviewed Insufficiently evaluated not reviewed unknown Array rs36012922 199 10156 0.0195943 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ACAA1 Ile319Thr I319T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - XIRP1 Pro1044Leu P1044L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - VIPR1 Ser205Leu S205L not reviewed Insufficiently evaluated not reviewed unknown Array 272 10758 0.0252835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZBTB47 Pro329Leu P329L not reviewed Insufficiently evaluated not reviewed unknown Array 52 8298 0.00626657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.873 - - 7 Y 2 N - - CYP8B1 Lys238Arg K238R not reviewed Insufficiently evaluated not reviewed unknown Array rs35764459 265 10752 0.0246466 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.074 - - -3 - 0 N - - FAM198A Val108Ala V108A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LARS2 Lys727Asn K727N not reviewed Insufficiently evaluated not reviewed unknown Array rs36054230 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - CCR2 Phe316Leu F316L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC2 Arg335Leu R335L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 6 Y 1 N - - TDGF1 Pro119Ala P119A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - SETD2 Val265Leu V265L not reviewed Insufficiently evaluated not reviewed unknown Array rs9311404 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX30 Ile173Val I173V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - -4 - 1 N - - UBA7 Arg414His R414H not reviewed Insufficiently evaluated not reviewed unknown Array rs2234380 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASSF1 Val47Phe V47F not reviewed Insufficiently evaluated not reviewed unknown Array rs61758759 134 9250 0.0144865 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - BAP1 Thr423Lys T423K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - GLT8D1 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITIH1 His809Tyr H809Y not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - -1 - 2 N - - ITIH3 Lys49Glu K49E not reviewed Insufficiently evaluated not reviewed unknown Array 76 10334 0.00735436 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - ITIH3 Ser216Tyr S216Y not reviewed Insufficiently evaluated not reviewed unknown Array 60 10334 0.00580608 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - ITIH3 Glu610Lys E610K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10238 0.00107443 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - LMOD3 MetLeu84IleMet ML84IM not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GABRR3 Gly80Arg G80R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR5H1 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ABI3BP Gly490Arg G490R not reviewed Insufficiently evaluated not reviewed unknown Array 21 9516 0.00220681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK127584 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array rs60451587 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.191 - - 1 - 0 N - - BC038577 Ser118Ala S118A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - -1 - 0 N - - BOC Lys883Asn K883N not reviewed Insufficiently evaluated not reviewed unknown Array rs35536878 391 10758 0.036345 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - GTF2E1 Met295Thr M295T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 2 - 1 N - - STXBP5L Ser939Phe S939F not reviewed Insufficiently evaluated not reviewed unknown Array rs61996327 88 9668 0.00910219 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - GOLGB1 Ser2996Del S2996Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC15A2 Asn590Ser N590S not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP15 Leu241Ser L241S not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSPBAP1 Gln108Arg Q108R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 0 - 2 N - - ROPN1 Cys62Trp C62W not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - KALRN Glu2310Lys E2310K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXND1 Gln721Arg Q721R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL6A6 Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array 76 9864 0.00770479 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - COL6A6 Arg1660Cys R1660C not reviewed Insufficiently evaluated not reviewed unknown Array 8 9826 0.000814166 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.696 - - 8 Y 1 N - - ATP2C1 Ala450Thr A450T not reviewed Insufficiently evaluated not reviewed unknown Array rs41434650 112 10758 0.0104109 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TMEM108 Pro386Ala P386A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - TRIM42 Arg245His R245H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HLTF Arg376His R376H not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLTF Tyr332Cys Y332C not reviewed Insufficiently evaluated not reviewed unknown Array 212 10752 0.0197173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SMC4 Lys628Asn K628N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - SMC4 Lys679Asn K679N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10480 0.000858778 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 1 - 1 N - - SMC4 Arg1128Gln R1128Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ZBBX Asp360Asn D360N not reviewed Insufficiently evaluated not reviewed unknown Array rs34690303 72 9590 0.00750782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPATA16 Leu246Phe L246F not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - EHHADH Thr283Ala T283A not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ETV5 Leu149Val L149V not reviewed Insufficiently evaluated not reviewed unknown Array 139 10666 0.0130321 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.098 - - 0 - 0 N - - DGKG Pro428Thr P428T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCL6 Arg402His R402H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 1 N - - ATP13A5 Lys105Arg K105R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MUC4 Gly1804Cys G1804C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TFRC Arg677His R677H not reviewed Insufficiently evaluated not reviewed unknown Array rs41298067 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KIAA0226 Ser350Asn S350N not reviewed Insufficiently evaluated not reviewed unknown Array rs61746427 158 10228 0.0154478 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - LMLN Tyr234Cys Y234C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.244 - - 6 Y 1 N - - PIGG Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE6B Gly236Ser G236S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MFSD7 Arg307Trp R307W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DGKQ Ala438Thr A438T not reviewed Insufficiently evaluated not reviewed unknown Array rs62621107 6 10740 0.000558659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM53A Pro235Arg P235R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10174 0.00422646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.743 - - 5 Y 1 N - - NOP14 Lys834Asn K834N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - HGFAC Thr57Ala T57A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - STX18 Ala209Ser A209S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PROM1 Thr638Ala T638A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9486 0.000527092 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.091 Y - 1 - 1 N - - DCAF16 Asn45Ser N45S not reviewed Insufficiently evaluated not reviewed unknown Array rs34085539 214 10758 0.0198922 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR10 Leu428Pro L428P not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - WDR19 Ser536Thr S536T not reviewed Insufficiently evaluated not reviewed unknown Array 70 9448 0.00740898 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFC1 Gln954Lys Q954K not reviewed Insufficiently evaluated not reviewed unknown Array rs17335452 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLB Val166Ala V166A not reviewed Insufficiently evaluated not reviewed unknown Array rs35733674 44 10750 0.00409302 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NSUN7 Asp334Glu D334E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LIMCH1 Ser1230Pro S1230P not reviewed Insufficiently evaluated not reviewed unknown Array rs61744806 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GABRA2 Lys2Met K2M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - COX7B2 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - COMMD8 Ala17Pro A17P not reviewed Insufficiently evaluated not reviewed unknown Array rs35444219 85 8084 0.0105146 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFXL1 Gly690Arg G690R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - NIPAL1 Val376Ile V376I not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OCIAD1 His127Asp H127D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - AK095318 Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1211 Glu309Arg E309R not reviewed Insufficiently evaluated not reviewed unknown Array rs67121617 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1211 Arg1014Gln R1014Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10048 0.00208997 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - STAP1 Pro174Ala P174A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - UTP3 Arg159Lys R159K not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NPFFR2 Ser35Arg S35R not reviewed Insufficiently evaluated not reviewed unknown Array 114 10736 0.0106185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AFP Phe50Tyr F50Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.548 - - -4 - 1 N - - AFM Ser157Thr S157T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - AFM Asn200Phe N200F not reviewed Insufficiently evaluated not reviewed unknown Array rs61747695 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RASSF6 Val123Ile V123I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - FRAS1 Met590Thr M590T not reviewed Insufficiently evaluated not reviewed unknown Array rs35030041 122 10042 0.012149 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FRAS1 Thr887Ser T887S not reviewed Insufficiently evaluated not reviewed unknown Array 204 10404 0.0196078 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FRAS1 Val3624Ala V3624A not reviewed Insufficiently evaluated not reviewed unknown Array rs34670941 18 128 0.140625 12 0 12 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - ANTXR2 Lys110Arg K110R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741647 36 9452 0.00380872 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 - Y -3 - 1 N - - C4ORF36 Gln23Arg Q23R not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM190A Glu133Gln E133Q not reviewed Insufficiently evaluated not reviewed unknown Array 109 9506 0.0114664 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - AK000028 Val98Ala V98A not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGXT2L1 Gly238Ser G238S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC24D Phe928Leu F928L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SEC24D Gly70Val G70V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AX746903 Asp59His D59H not reviewed Insufficiently evaluated not reviewed unknown Array 4 124 0.0322581 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD50 Thr367Met T367M not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LARP1B Arg871His R871H not reviewed Insufficiently evaluated not reviewed unknown Array rs56129468 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PABPC4L Gly329Glu G329E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK095554 Val40Ala V40A not reviewed Insufficiently evaluated not reviewed unknown Array rs73855716 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC10A7 Arg6Ser R6S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - FHDC1 Gly847Ser G847S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KIAA0922 Asn1254Ser N1254S not reviewed Insufficiently evaluated not reviewed unknown Array rs35018723 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FSTL5 Tyr224Cys Y224C not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.817 - - 6 Y 1 N - - KIAA1712 Arg72Cys R72C not reviewed Insufficiently evaluated not reviewed unknown Array 65 10756 0.00604314 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - WWC2 Ser1081Gly S1081G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - TRIML2 Val134Ile V134I not reviewed Insufficiently evaluated not reviewed unknown Array 287 10758 0.0266778 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRIP13 Cys93Arg C93R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - NKD2 Arg209Lys R209K not reviewed Insufficiently evaluated not reviewed unknown Array 112 10654 0.0105125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - -3 - 2 N - - FASTKD3 Glu459Gln E459Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.171 - - -2 - 0 N - - CDH12 Ile475Thr I475T not reviewed Insufficiently evaluated not reviewed unknown Array rs12108814 228 10758 0.0211935 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TARS Val118Ile V118I not reviewed Insufficiently evaluated not reviewed unknown Array rs11541416 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -4 - 0 N - - SLC1A3 Arg385His R385H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - C5ORF42 Ile318Thr I318T not reviewed Insufficiently evaluated not reviewed unknown Array rs6859950 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9 Asp80Asn D80N not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - -1 - 0 N - - ISL1 Asn89Lys N89K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - GAPT Ala83Thr A83T not reviewed Insufficiently evaluated not reviewed unknown Array rs35260984 302 10758 0.0280721 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.416 - - 1 - 1 N - - IPO11 Gln632His Q632H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 1 N - - CCDC125 Glu318Asp E318D not reviewed Insufficiently evaluated not reviewed unknown Array 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - MCCC2 Asn480Ser N480S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - CRHBP Ala74Thr A74T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - THBS4 Val646Ile V646I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229396 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - SPZ1 His301Asp H301D not reviewed Insufficiently evaluated not reviewed unknown Array 74 9782 0.00756491 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - FAM151B Thr85Ala T85A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.845 - - 1 - 1 N - - CAST Ala403Pro A403P not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIOK2 His144Arg H144R not reviewed Insufficiently evaluated not reviewed unknown Array rs35165987 193 10758 0.0179401 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.982 - - 1 - 2 N - - PAM Thr493Ile T493I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PJA2 Glu176Gly E176G not reviewed Insufficiently evaluated not reviewed unknown Array rs35224970 210 10756 0.019524 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_173800 Arg601Trp R601W not reviewed Insufficiently evaluated not reviewed unknown Array 49 10756 0.0045556 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSTL4 Val262Ala V262A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - FBXL21 Phe75Leu F75L not reviewed Insufficiently evaluated not reviewed unknown Array rs7705168 165 9638 0.0171197 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC25C Arg213Cys R213C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - APBB3 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array rs7715021 190 10758 0.0176613 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - PCDHB6 Val458Ile V458I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -4 - 0 N - - PCDHB17 Arg202Leu R202L not reviewed Insufficiently evaluated not reviewed unknown Array rs246698 13 128 0.101562 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PCDHB10 Ile404Leu I404L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743526 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHB11 His638Gln H638Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 9060 0.0129139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.214 - - -1 - 1 N - - PCDHB18 Leu466Ser L466S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - PCDHB15 His735Tyr H735Y not reviewed Insufficiently evaluated not reviewed unknown Array 82 10754 0.00762507 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - PCDHGC5 Gly275Ser G275S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233603 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - 2 - 1 N - - ARAP3 Ile1169Met I1169M not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - -1 - 1 N - - RBM27 Met361Leu M361L not reviewed Insufficiently evaluated not reviewed unknown Array 15 7820 0.00191816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -3 - 0 N - - SPINK1 Leu12Phe L12F not reviewed Insufficiently evaluated not reviewed unknown Array rs35877720 364 10758 0.0338353 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.759 Y - 0 - 2 N - - AFAP1L1 Asn119Ser N119S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10748 0.00204689 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFAP1L1 Lys441Arg K441R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PPARGC1B Glu528Lys E528K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARSI Gly190Ser G190S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - ZNF300 Tyr187Cys Y187C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - ZNF300 Met2Del M2Del not reviewed Insufficiently evaluated not reviewed unknown Array rs72332188 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC36A3 Leu203Ser L203S not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - SLC36A2 Arg372Trp R372W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 7 Y 0 N - - SLC36A1 Pro25Leu P25L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 7 Y 1 N - - FAT2 Leu2201Phe L2201F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.366 - - 0 - 1 N - - GEMIN5 Gln463Pro Q463P not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - GEMIN5 Leu81Phe L81F not reviewed Insufficiently evaluated not reviewed unknown Array rs35359985 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TIMD4 Ser44Tyr S44Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - HAVCR1 MetThrThrValPro158Del MTTVP158Del not reviewed Insufficiently evaluated not reviewed unknown Array rs6149307 44 92 0.478261 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MED7 Glu202Lys E202K not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM71B Arg447Cys R447C not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ODZ2 Val2576Met V2576M not reviewed Insufficiently evaluated not reviewed unknown Array rs60051254 111 10296 0.0107809 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDHR2 Val457Ile V457I not reviewed Insufficiently evaluated not reviewed unknown Array rs73345161 156 10758 0.0145008 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDHR2 Val1282Met V1282M not reviewed Insufficiently evaluated not reviewed unknown Array rs34418000 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001080544 Glu168Lys E168K not reviewed Insufficiently evaluated not reviewed unknown Array rs28503442 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HNRNPAB Gly292Ser G292S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYLK4 Glu39Ala E39A not reviewed Insufficiently evaluated not reviewed unknown Array rs7770402 112 10758 0.0104109 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - PSMG4 Thr65Ala T65A not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC22A23 Ser154Gly S154G not reviewed Insufficiently evaluated not reviewed unknown Array 14 3230 0.00433437 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - C6ORF201 Cys77Phe C77F not reviewed Insufficiently evaluated not reviewed unknown Array 117 9648 0.0121269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RREB1 Pro969Ser P969S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CAP2 Pro310Thr P310T not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - KIF13A Thr232Ile T232I not reviewed Insufficiently evaluated not reviewed unknown Array 80 9844 0.00812678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.573 - - 3 - 1 N - - KIF13A Pro41Leu P41L not reviewed Insufficiently evaluated not reviewed unknown Array 24 9858 0.00243457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.504 - - 7 Y 1 N - - SOX4 Asp21Glu D21E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10454 0.0006696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - FAM65B Leu612Phe L612F not reviewed Insufficiently evaluated not reviewed unknown Array 48 9706 0.00494539 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM65B Ser559Leu S559L not reviewed Insufficiently evaluated not reviewed unknown Array 51 10100 0.0050495 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM65B Arg487Lys R487K not reviewed Insufficiently evaluated not reviewed unknown Array 44 9840 0.00447154 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRRC16A Asn1117Ser N1117S not reviewed Insufficiently evaluated not reviewed unknown Array rs9885914 206 9940 0.0207243 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BTN2A1 Glu286Gly E286G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 6 Y 0 N - - ZNF391 Ser5Asn S5N not reviewed Insufficiently evaluated not reviewed unknown Array rs62622793 9 124 0.0725806 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2U1P Asn122Ser N122S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10C1 Pro286Arg P286R not reviewed Insufficiently evaluated not reviewed unknown Array rs17184058 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - BC051362 Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC051362 Pro114His P114H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-A Thr97Ile T97I not reviewed Insufficiently evaluated not reviewed unknown Array rs1059471 552 10730 0.0514445 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HLA-A Thr187Glu T187E not reviewed Insufficiently evaluated not reviewed unknown Array rs3129018 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-A Lys210Arg K210R not reviewed Insufficiently evaluated not reviewed unknown Array rs41557315 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RNF39 Thr55Met T55M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX16 Arg956Trp R956W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHX16 Lys352Glu K352E not reviewed Insufficiently evaluated not reviewed unknown Array rs17189239 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX16 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array 17 7522 0.00226004 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1949 Gly83Arg G83R not reviewed Insufficiently evaluated not reviewed unknown Array 77 6966 0.0110537 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - C6ORF15 Asn43Asp N43D not reviewed Insufficiently evaluated not reviewed unknown Array rs2233975 119 10614 0.0112116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C4B Asn1176Ser N1176S not reviewed Insufficiently evaluated not reviewed unknown Array rs17874654 7 92 0.076087 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK123889 Val48Ile V48I not reviewed Insufficiently evaluated not reviewed unknown Array rs7741477 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF10 Gly479Val G479V not reviewed Insufficiently evaluated not reviewed unknown Array rs7751028 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C6ORF10 Thr431Ser T431S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF10 Gln387Glu Q387E not reviewed Insufficiently evaluated not reviewed unknown Array rs61995678 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF10 Leu266Trp L266W not reviewed Insufficiently evaluated not reviewed unknown Array rs4947338 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-DMA Val235Met V235M not reviewed Insufficiently evaluated not reviewed unknown Array rs9469319 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSD17B8 Val210Leu V210L not reviewed Insufficiently evaluated not reviewed unknown Array 24 7518 0.00319234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CLPS Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - FGD2 Asp36Glu D36E not reviewed Insufficiently evaluated not reviewed unknown Array rs34617818 96 10758 0.00892359 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNK5 Gly318Val G318V not reviewed Insufficiently evaluated not reviewed unknown Array rs35556399 279 10758 0.0259342 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CUL7 Arg773Gln R773Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 - Y 0 - 3 N - - PTK7 Ala393Thr A393T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10752 0.00176711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - POLH His218Asn H218N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.989 - Y 0 - 3 N - - TCTE1 Arg185Gln R185Q not reviewed Insufficiently evaluated not reviewed unknown Array 105 10754 0.00976381 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - GPR111 Gly226Val G226V not reviewed Insufficiently evaluated not reviewed unknown Array 29 9690 0.00299278 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PGK2 Ala354Thr A354T not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BMP5 Phe209Leu F209L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.908 - - 0 - 2 N - - DST Thr4253Ala T4253A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PHF3 Gly894Val G894V not reviewed Insufficiently evaluated not reviewed unknown Array rs35677001 83 10756 0.00771662 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - EYS Ile361Thr I361T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10720 0.00027985 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PGM3 Met60Val M60V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - C6ORF162 Arg91Trp R91W not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MDN1 Met4661Thr M4661T not reviewed Insufficiently evaluated not reviewed unknown Array rs35906591 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.928 - - 2 - 2 N - - ASCC3 Tyr1203Cys Y1203C not reviewed Insufficiently evaluated not reviewed unknown Array rs7773345 154 10758 0.0143149 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AIM1 Pro597Arg P597R not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - LACE1 Arg374Gln R374Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - DDO Arg321Gln R321Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GSTM2P1 Lys35Arg K35R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - COL10A1 Met549Ile M549I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - -1 - 3 N - - RNF217 Ile237Val I237V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LAMA2 Ile2759Thr I2759T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - AKAP7 Pro145Leu P145L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - TAAR5 Val87Leu V87L not reviewed Insufficiently evaluated not reviewed unknown Array rs9493386 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.684 - - 0 - 1 N - - VNN1 Leu463Val L463V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1244 Ala704Val A704V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741354 171 10686 0.0160022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - UTRN Ala946Val A946V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHPRH Ser93Pro S93P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF103 Gly1086Ser G1086S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STXBP5 Met718Ile M718I not reviewed Insufficiently evaluated not reviewed unknown Array 100 10628 0.00940911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LATS1 Ser97Gly S97G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTHFD1L Gly298Glu G298E not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIAM2 SerLeu1522ThrGln SL1522TQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARID1B Met1481Leu M1481L not reviewed Insufficiently evaluated not reviewed unknown Array rs34870395 167 10750 0.0155349 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ELFN1 Tyr669Phe Y669F not reviewed Insufficiently evaluated not reviewed unknown Array 1 18 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NM_001099942 Pro173Leu P173L not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IQCE Arg317Cys R317C not reviewed Insufficiently evaluated not reviewed unknown Array 243 10240 0.0237305 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - IQCE Arg511Cys R511C not reviewed Insufficiently evaluated not reviewed unknown Array 235 9680 0.0242769 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.974 - - 8 Y 2 N - - TNRC18 Pro2424Ala P2424A not reviewed Insufficiently evaluated not reviewed unknown Array rs58819185 405 7790 0.0519897 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C7ORF70 Gln168Arg Q168R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THSD7A Lys292Arg K292R not reviewed Insufficiently evaluated not reviewed unknown Array 52 9672 0.00537634 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AK027618 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISPD Pro11Arg P11R not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITGB8 Glu613Asp E613D not reviewed Insufficiently evaluated not reviewed unknown Array rs61733918 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - ABCB5 Ile369Val I369V not reviewed Insufficiently evaluated not reviewed unknown Array rs58976125 99 7814 0.0126696 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH11 Met1316Val M1316V not reviewed Insufficiently evaluated not reviewed unknown Array rs17144788 93 9596 0.00969154 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - DNAH11 Ala4523Val A4523V not reviewed Insufficiently evaluated not reviewed unknown Array rs72658840 260 10006 0.0259844 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - NUPL2 Lys392Asn K392N not reviewed Insufficiently evaluated not reviewed unknown Array rs34902971 395 10758 0.0367169 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AX748054 Glu46Lys E46K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.102 - - 0 - 0 N - - NM_001126493 His135Pro H135P not reviewed Insufficiently evaluated not reviewed unknown Array 16 3234 0.00494743 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CPVL Met71Val M71V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736222 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ579940 Ala114Val A114V not reviewed Insufficiently evaluated not reviewed unknown Array rs10225476 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM188B Leu260Pro L260P not reviewed Insufficiently evaluated not reviewed unknown Array rs61741898 134 9978 0.0134295 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC129 Ser596Phe S596F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AMPH Glu325Lys E325K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.629 - - 0 - 1 N - - POU6F2 Glu639Lys E639K not reviewed Insufficiently evaluated not reviewed unknown Array rs7804851 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRPL32 Ser34Asn S34N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - RAMP3 Gly26Asp G26D not reviewed Insufficiently evaluated not reviewed unknown Array rs10272187 353 10758 0.0328128 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TNS3 Pro380Leu P380L not reviewed Insufficiently evaluated not reviewed unknown Array 133 10656 0.0124812 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ABCA13 Thr3834Met T3834M not reviewed Insufficiently evaluated not reviewed unknown Array rs73697164 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA13 Leu4030Pro L4030P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCA13 Pro4280Ala P4280A not reviewed Insufficiently evaluated not reviewed unknown Array rs17132370 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUMF2 Arg273Trp R273W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF117 Arg428Gln R428Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7457502 43 10426 0.0041243 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLIP2 Asp961Glu D961E not reviewed Insufficiently evaluated not reviewed unknown Array rs17145468 349 10758 0.032441 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.854 - - -2 - 2 N - - PCLO Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array 151 8496 0.0177731 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAM22 Arg513Leu R513L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - ZNF804B Ile1232Met I1232M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KPNA7 Val307Met V307M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM200A Pro255Thr P255T not reviewed Insufficiently evaluated not reviewed unknown Array 54 7386 0.00731113 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - ZNF498 Thr340Ile T340I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 3 - 1 N - - MCM7 Gly473Ser G473S not reviewed Insufficiently evaluated not reviewed unknown Array rs2307347 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - MBLAC1 Ser43Cys S43C not reviewed Insufficiently evaluated not reviewed unknown Array 373 9808 0.0380302 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.902 - - 3 - 2 N - - GAL3ST4 Gly94Arg G94R not reviewed Insufficiently evaluated not reviewed unknown Array 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.531 - - 6 Y 1 N - - PVRIG Pro162Leu P162L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ZAN Arg182Trp R182W not reviewed Insufficiently evaluated not reviewed unknown Array 47 9570 0.00491118 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Thr1041Ile T1041I not reviewed Insufficiently evaluated not reviewed unknown Array 25 10124 0.00246938 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZAN Val1248Ile V1248I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10182 0.0023571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZAN Cys1288Trp C1288W not reviewed Insufficiently evaluated not reviewed unknown Array 83 10356 0.00801468 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Gly2296Glu G2296E not reviewed Insufficiently evaluated not reviewed unknown Array 17 9998 0.00170034 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZAN Arg2432Trp R2432W not reviewed Insufficiently evaluated not reviewed unknown Array 17 9800 0.00173469 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC17 Ser224Gly S224G not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPY19L2P2 Met66Val M66V not reviewed Insufficiently evaluated not reviewed unknown Array rs7796589 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RELN Ser2513Cys S2513C not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PIK3CG Ile643Val I643V not reviewed Insufficiently evaluated not reviewed unknown Array rs28763989 233 10756 0.0216623 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - LAMB4 Gln574His Q574H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - DOCK4 Gln1822Lys Q1822K not reviewed Insufficiently evaluated not reviewed unknown Array rs10281942 111 10378 0.0106957 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1549 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 131 9800 0.0133673 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZC3HAV1L Stop301Leu X301L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGAM Gln404His Q404H not reviewed Insufficiently evaluated not reviewed unknown Array rs2272330 433 9634 0.044945 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.034 - - -1 - 0 N - - MGAM Glu976Ala E976A not reviewed Insufficiently evaluated not reviewed unknown Array rs2961085 393 9906 0.0396729 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.035 - - 3 - 0 N - - OR6V1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - ZNF777 Pro96Ala P96A not reviewed Insufficiently evaluated not reviewed unknown Array 186 9668 0.0192387 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - ZNF777 Ala85Val A85V not reviewed Insufficiently evaluated not reviewed unknown Array 181 9740 0.0185832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 2 - 0 N - - ZNF467 Pro425Leu P425L not reviewed Insufficiently evaluated not reviewed unknown Array 42 6156 0.00682261 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.63 - - 7 Y 1 N - - GIMAP2 Pro79Leu P79L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ABP1 Gln235Glu Q235E not reviewed Insufficiently evaluated not reviewed unknown Array 86 10352 0.00830757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - -2 - 1 N - - ACCN3 Ala123Thr A123T not reviewed Insufficiently evaluated not reviewed unknown Array 69 10746 0.00642099 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CHPF2 Ile214Thr I214T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - MLL3 Arg3077Cys R3077C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MLL3 Asn1601Ser N1601S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MLL3 Ile707Ser I707S not reviewed Insufficiently evaluated not reviewed unknown Array 2 52 0.0384615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MLL3 His703Gln H703Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 82 0.0243902 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - NOM1 Val635Ala V635A not reviewed Insufficiently evaluated not reviewed unknown Array rs61738590 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - WDR60 Ser562Asn S562N not reviewed Insufficiently evaluated not reviewed unknown Array 54 9732 0.0055487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLGAP2 Ala139Thr A139T not reviewed Insufficiently evaluated not reviewed unknown Array 268 10416 0.0257296 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF10 Gln1215Arg Q1215R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747124 Tyr160His Y160H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AB209502 Val681Leu V681L not reviewed Insufficiently evaluated not reviewed unknown Array rs73657807 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCPH1 Thr594Met T594M not reviewed Insufficiently evaluated not reviewed unknown Array 24 9670 0.0024819 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.708 - Y 2 - 2 N - - NM_001080826 Val1039Met V1039M not reviewed Insufficiently evaluated not reviewed unknown Array rs28533138 302 10248 0.0294692 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GATA4 Val380Met V380M not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DLC1 Gly816Ala G816A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFRSF10D Gln296Arg Q296R not reviewed Insufficiently evaluated not reviewed unknown Array rs61755337 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBXN8 Ser235Ala S235A not reviewed Insufficiently evaluated not reviewed unknown Array 4 9724 0.000411353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR124 Ala674Thr A674T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NKX6-3 Ala25Ser A25S not reviewed Insufficiently evaluated not reviewed unknown Array 137 10746 0.0127489 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0146 Thr652Ala T652A not reviewed Insufficiently evaluated not reviewed unknown Array rs61735903 111 9764 0.0113683 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRKDC Asn3458Ser N3458S not reviewed Insufficiently evaluated not reviewed unknown Array rs8178228 105 9516 0.011034 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PENK Asp155Asn D155N not reviewed Insufficiently evaluated not reviewed unknown Array rs34778389 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - C8ORF45 Thr89Met T89M not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPS28 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array rs16919579 276 10758 0.0256553 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CDH17 Thr606Lys T606K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - C8ORF38 Ser184Cys S184C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACAP1 Glu40Val E40V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ODF1 SerProCysAsnProCysSer222Asn SPCNPCS222N not reviewed Insufficiently evaluated not reviewed unknown Array rs58232162 7 92 0.076087 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PKHD1L1 Asp797Glu D797E not reviewed Insufficiently evaluated not reviewed unknown Array 96 9652 0.00994612 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - AX748380 Asp48His D48H not reviewed Insufficiently evaluated not reviewed unknown Array 15 128 0.117188 14 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - COLEC10 Arg179Trp R179W not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MYC Val185Ile V185I not reviewed Insufficiently evaluated not reviewed unknown Array rs4645961 119 10752 0.0110677 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSDMC Asp412Asn D412N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.109 - - -1 - 0 N - - ASAP1 Asp113Asn D113N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TG Val1495Ala V1495A not reviewed Insufficiently evaluated not reviewed unknown Array rs61740825 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 1 N - - FAM135B Ile504Thr I504T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 3 - 1 N - - COL22A1 Gly23Ser G23S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - LY6K Glu44Asp E44D not reviewed Insufficiently evaluated not reviewed unknown Array rs3736005 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C8ORF73 Asn213Thr N213T not reviewed Insufficiently evaluated not reviewed unknown Array 9 8410 0.00107015 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAPK15 Asp312Asn D312N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -1 - 0 N - - PLEC Met4652Val M4652V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg1397Gly R1397G not reviewed Insufficiently evaluated not reviewed unknown Array 19 10554 0.00180027 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK8 Ile1121Val I1121V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FREM1 Val1655Met V1655M not reviewed Insufficiently evaluated not reviewed unknown Array 24 9952 0.00241158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - PSIP1 Gln472Leu Q472L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744944 228 10756 0.0211975 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.549 - - 5 Y 1 N - - FAM154A Gly316Arg G316R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - HAUS6 Ser2Gly S2G not reviewed Insufficiently evaluated not reviewed unknown Array 32 10754 0.00297564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.744 - - 2 - 1 N - - IFNA21 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ACO1 Gly486Arg G486R not reviewed Insufficiently evaluated not reviewed unknown Array rs34630459 316 10758 0.0293735 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - DDX58 Glu773Lys E773K not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - CD72 Arg317Gly R317G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - CREB3 Asp289Glu D289E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FRMPD1 Gly827Glu G827E not reviewed Insufficiently evaluated not reviewed unknown Array rs34100169 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - ANKRD18A Thr942Met T942M not reviewed Insufficiently evaluated not reviewed unknown Array rs12001355 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD18A Gly900Ala G900A not reviewed Insufficiently evaluated not reviewed unknown Array rs2993206 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD18A Ala897Val A897V not reviewed Insufficiently evaluated not reviewed unknown Array rs2996335 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 2 - 1 N - - ANKRD18A Leu682Ser L682S not reviewed Insufficiently evaluated not reviewed unknown Array 5 120 0.0416667 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - FAM189A2 Pro322Ser P322S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPM6 His547Tyr H547Y not reviewed Insufficiently evaluated not reviewed unknown Array 358 10758 0.0332776 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.956 Y - -1 - 3 N - - C9ORF95 Glu90Gln E90Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35472028 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRUNE2 Thr2739Met T2739M not reviewed Insufficiently evaluated not reviewed unknown Array 101 7820 0.0129156 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRUNE2 Ile2251Leu I2251L not reviewed Insufficiently evaluated not reviewed unknown Array 102 7820 0.0130435 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRUNE2 GluGlnCysGln1957Del EQCQ1957Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRUNE2 Val1477Met V1477M not reviewed Insufficiently evaluated not reviewed unknown Array 102 7820 0.0130435 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRUNE2 Ser883Ile S883I not reviewed Insufficiently evaluated not reviewed unknown Array 5 7820 0.000639386 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM75D1 Ser193Pro S193P not reviewed Insufficiently evaluated not reviewed unknown Array 61 9810 0.00621814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - C9ORF103 Val84Ala V84A not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX721189 Lys107Arg K107R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLC28A3 Ser5Asn S5N not reviewed Insufficiently evaluated not reviewed unknown Array rs11568403 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCCHC6 Ser966Asn S966N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742249 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - C9ORF79 Arg945Gln R945Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10750 0.00446512 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUSD3 Gln177His Q177H not reviewed Insufficiently evaluated not reviewed unknown Array rs41313323 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - HIATL2 Gly115Asp G115D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.605 - - 4 Y 1 N - - ANKS6 Pro591Arg P591R not reviewed Insufficiently evaluated not reviewed unknown Array 4 9826 0.000407083 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 1 N - - TEX10 Thr449Pro T449P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - 4 Y 1 N - - OR13C5 Leu23His L23H not reviewed Insufficiently evaluated not reviewed unknown Array 3 66 0.0454545 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.906 - - 6 Y 2 N - - CTNNAL1 Thr424Ser T424S not reviewed Insufficiently evaluated not reviewed unknown Array rs16913734 370 10758 0.034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - SVEP1 Pro444Leu P444L not reviewed Insufficiently evaluated not reviewed unknown Array 80 9934 0.00805315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.174 - - 7 Y 0 N - - TNC Ala1096Thr A1096T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNC Gly261Ser G261S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736826 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNC Gly213Ser G213S not reviewed Insufficiently evaluated not reviewed unknown Array rs7020958 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEP110 Arg2025Trp R2025W not reviewed Insufficiently evaluated not reviewed unknown Array rs34344401 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - GGTA1 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - Y 0 - 3 N - - DAB2IP Ser785Ala S785A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10238 0.00156281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MRRF Leu78Phe L78F not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1L8 Arg51Cys R51C not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - OR1Q1 Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - OR1B1 Ser249Pro S249P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - OR1L4 Thr39Ala T39A not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - OR1L4 Leu48Pro L48P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - OR1K1 Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - CRB2 Glu792Asp E792D not reviewed Insufficiently evaluated not reviewed unknown Array 105 10752 0.00976562 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.095 - - -2 - 0 N - - AK131516 Ser55Phe S55F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZBTB34 Val268Ala V268A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC16 Phe414Val F414V not reviewed Insufficiently evaluated not reviewed unknown Array 87 10650 0.00816901 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 3 - 2 N - - ZDHHC12 Val27Met V27M not reviewed Insufficiently evaluated not reviewed unknown Array rs36044649 40 10754 0.00371955 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - ASB6 Arg384Gln R384Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - ABO Ala16Thr A16T not reviewed Insufficiently evaluated not reviewed unknown Array rs55917063 62 10168 0.00609756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTSL2 Thr30Ala T30A not reviewed Insufficiently evaluated not reviewed unknown Array rs62637569 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y 1 - 1 N - - QSOX2 Arg422Gln R422Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.282 - - 0 - 1 N - - EHMT1 Ala12Gly A12G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - BC018860 Thr30Ala T30A not reviewed Insufficiently evaluated not reviewed unknown Array rs1978001 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC018860 Ser52Gly S52G not reviewed Insufficiently evaluated not reviewed unknown Array rs1978002 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC018860 His82Arg H82R not reviewed Insufficiently evaluated not reviewed unknown Array rs28358873 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC018860 Ile163Thr I163T not reviewed Insufficiently evaluated not reviewed unknown Array rs9783095 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AF391805 Tyr94His Y94H not reviewed Insufficiently evaluated not reviewed unknown Array rs28357686 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP6 Gly265Arg G265R not reviewed Insufficiently evaluated not reviewed unknown Array 110 10270 0.0107108 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTPBP6 Thr254Ile T254I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10208 0.000391849 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GTPBP6 Ala244Val A244V not reviewed Insufficiently evaluated not reviewed unknown Array 65 9992 0.0065052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MXRA5 Asn709Asp N709D not reviewed Insufficiently evaluated not reviewed unknown Array 10 8761 0.00114142 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - TCEANC Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array rs12116359 7 570 0.0122807 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GRIPAP1 Pro179Leu P179L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735977 486 8750 0.0555429 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - STARD8 Asp416His D416H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LPAR4 Leu54Met L54M not reviewed Insufficiently evaluated not reviewed unknown Array 58 8761 0.00662025 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - CYLC1 Asp383Val D383V not reviewed Insufficiently evaluated not reviewed unknown Array 18 8727 0.00206256 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 8 Y 2 N - - SERPINA7 Asp191Asn D191N not reviewed Insufficiently evaluated not reviewed unknown Array rs1050086 334 8761 0.0381235 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - TBC1D8B Leu931Arg L931R not reviewed Insufficiently evaluated not reviewed unknown Array 3 8758 0.000342543 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 6 Y 0 N - - TBC1D8B Leu974Phe L974F not reviewed Insufficiently evaluated not reviewed unknown Array rs34694710 25 8754 0.00285584 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - LUZP4 Ser55Asn S55N not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGTR2 Arg248Lys R248K not reviewed Insufficiently evaluated not reviewed unknown Array rs5191 113 8761 0.0128981 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -3 - 1 N - - KIAA1210 Gly158Ser G158S not reviewed Insufficiently evaluated not reviewed unknown Array 3 7684 0.000390421 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NKAP Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array 9 8759 0.00102751 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR112 Ala2900Ser A2900S not reviewed Insufficiently evaluated not reviewed unknown Array 95 8761 0.0108435 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VAMP7 Lys137Gln K137Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - -2 - 1 N - - AKR7L Arg11Shift R11Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZBTB40 Glu373Stop E373X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPATCH3 Leu78Shift L78Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - INPP5B Asn163Shift N163Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNQ4 Arg500His R500H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.977 Y Y 1 - 4 N - - FAM151A Pro335Shift P335Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDE4DIP Arg1940Stop R1940X not reviewed Insufficiently evaluated not reviewed unknown Array 72 10754 0.00669518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CD1D Thr260Shift T260Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - F5 Lys1819Shift K1819Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - LYST Glu2684Lys E2684K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.687 Y Y 0 - 3 N - - CNST Asp558Shift D558Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PITRM1 Pro654Shift P654Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CUBN Tyr1226Shift Y1226Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - LRRTM3 Cys276Shift C276Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNLIPRP3 Ser179Shift S179Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM8 Val410Shift V410Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ROM1 Arg165Shift R165Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ALG8 Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61995925 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - DLAT Glu115Shift E115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - CACNA1C Ile304Thr I304T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10700 0.0011215 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SCN8A Arg1026Cys R1026C not reviewed Insufficiently evaluated not reviewed unknown Array 111 10314 0.0107621 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 Y Y 8 Y 4 N - - CEP290 Arg2210Cys R2210C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9460 0.000105708 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 8 Y 4 N - - ANAPC5 Tyr33Stop Y33X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GJB2 Phe83Leu F83L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - TEP1 His2562Arg H2562R not reviewed Insufficiently evaluated not reviewed unknown Array rs2104978 521 10758 0.0484291 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - GCH1 Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array rs41298432 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 7 Y 2 N - - VPS18 Phe244Shift F244Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AMDHD2 Leu172Shift L172Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HIRIP3 Arg52Shift R52Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C16ORF55 His136Shift H136Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC5A10 Gln217Stop Q217X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC6A4 Val236Ile V236I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y -4 - 2 N - - GJD3 Thr310Shift T310Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RYR1 Cys1781Shift C1781Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CARD8 Val43Shift V43Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKT1S1 Glu145Shift E145Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MATN3 Arg391Cys R391C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10018 0.00139748 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.159 Y Y 8 Y 2 N - - CCDC121 Asp165Shift D165Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN2A Arg1177Trp R1177W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.838 Y - 7 Y 2 N - - SCN1A Glu1297Asp E1297D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DFNB59 Arg265Gly R265G not reviewed Insufficiently evaluated not reviewed unknown Array rs17304212 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.645 Y - 6 Y 2 N - - TTN Gly20989Arg G20989R not reviewed Insufficiently evaluated not reviewed unknown Array rs55801134 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MKKS Met327Leu M327L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -3 - 2 N - - COL9A3 Pro513Leu P513L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - NEFH Ala646Shift A646Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 96 0.0416667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTLL3 Arg561Stop R561X not reviewed Insufficiently evaluated not reviewed unknown Array rs3208837 308 9746 0.0316027 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCN5A Arg1897Trp R1897W not reviewed Insufficiently evaluated not reviewed unknown Array rs45465995 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL7A1 Gly1412Glu G1412E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FRG2C His11Stop H11X not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TDO2 Tyr390Stop Y390X not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAT1 Asp4218Gly D4218G not reviewed Insufficiently evaluated not reviewed unknown Array rs72716244 94 9668 0.0097228 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 4 Y 2 N - - AK002097 Gly126Shift G126Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57727790 4 74 0.0540541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAF2 Arg312Shift R312Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALDH5A1 Cys4Gly C4G not reviewed Insufficiently evaluated not reviewed unknown Array 15 8140 0.00184275 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - C6ORF27 His353Shift H353Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EGFL8 Tyr74Stop Y74X not reviewed Insufficiently evaluated not reviewed unknown Array 25 7524 0.0033227 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HLA-DQA1 Arg64Thr R64T not reviewed Insufficiently evaluated not reviewed unknown Array rs36219699 3 94 0.0319149 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - AK097143 Trp357Stop W357X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNE1 Leu3388Phe L3388F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.96 Y Y 0 - 4 N - - PARK2 Asp62Val D62V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 8 Y 2 N - - FLNC Lys492Glu K492E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10102 9.899e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.564 Y Y 0 - 3 N - - CLN8 Tyr18Phe Y18F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y -4 - 4 N - - C9ORF152 Ile18Shift I18Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIM32 Gln186His Q186H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y -1 - 4 N - - SETX Lys218Asn K218N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - C9ORF173 Gln213Shift Q213Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RPGR ValGluGlyGlu1025Del VEGE1025Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 92 0.0434783 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - NM_001039768 Tyr51Shift Y51Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 19 0.210526 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBE2J2 Val229Ile V229I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATAD3C Phe272Cys F272C not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - MTOR GluPro506AlaVal EP506AV not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPCL1 Gly114Asn G114N not reviewed Insufficiently evaluated not reviewed unknown Array 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PRDM2 Asp253Glu D253E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747667 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - -2 - 0 N - - PRDM2 Asp283GluGlu D283EE not reviewed Insufficiently evaluated not reviewed unknown Array rs2076324 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRDM2 Pro949Ala P949A not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.715 - - 2 - 1 N - - BC033082 Pro106Arg P106R not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LUZP1 Ser651Cys S651C not reviewed Insufficiently evaluated not reviewed unknown Array rs35645814 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - TRNAU1AP Tyr96Phe Y96F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -4 - 0 N - - MTF1 Asp706Gly D706G not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NT5C1A Arg283Cys R283C not reviewed Insufficiently evaluated not reviewed unknown Array rs41264507 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RIMKLA Glu284Lys E284K not reviewed Insufficiently evaluated not reviewed unknown Array rs34142209 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PODN Pro37Arg P37R not reviewed Insufficiently evaluated not reviewed unknown Array rs41313375 92 10464 0.00879205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP24 Lys2312Arg K2312R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRRIQ3 His156Tyr H156Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17591320 395 10756 0.0367237 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.085 - - -1 - 0 N - - TNNI3K Ala886Gly A886G not reviewed Insufficiently evaluated not reviewed unknown Array rs45578635 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - RBMXL1 Pro167Ala P167A not reviewed Insufficiently evaluated not reviewed unknown Array 3 102 0.0294118 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBMXL1 Ile40Met I40M not reviewed Insufficiently evaluated not reviewed unknown Array 1998 10758 0.185722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ZNF644 Arg1100His R1100H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - S1PR1 Arg13Gly R13G not reviewed Insufficiently evaluated not reviewed unknown Array rs41287280 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TTF2 Ser956Gly S956G not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - SPAG17 Lys1747Glu K1747E not reviewed Insufficiently evaluated not reviewed unknown Array rs35290515 255 10758 0.0237033 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - ANP32E Glu229Asp E229D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10074 0.00138972 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF51 Pro302His P302H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FLG2 Tyr907Ser Y907S not reviewed Insufficiently evaluated not reviewed unknown Array rs12758293 16 10660 0.00150094 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPATCH4 Arg155Leu R155L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR10Z1 Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array rs41273513 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - USP21 Pro91Ala P91A not reviewed Insufficiently evaluated not reviewed unknown Array rs34779722 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - PRRC2C Thr2716Ala T2716A not reviewed Insufficiently evaluated not reviewed unknown Array rs2421847 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPR Arg1832His R1832H not reviewed Insufficiently evaluated not reviewed unknown Array 28 9664 0.00289735 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - F13B Ile342Thr I342T not reviewed Insufficiently evaluated not reviewed unknown Array rs17514281 71 10756 0.00660097 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.254 Y - 3 - 2 N - - PIK3C2B Ala577Ser A577S not reviewed Insufficiently evaluated not reviewed unknown Array rs61762602 61 10752 0.00567336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM81 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - CR1L Cys207Tyr C207Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41303261 367 9854 0.0372438 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CR1L Val500Ile V500I not reviewed Insufficiently evaluated not reviewed unknown Array 438 9704 0.045136 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.03 - - -4 - 0 N - - SYT14 Glu225Del E225Del not reviewed Insufficiently evaluated not reviewed unknown Array rs2307890 1 126 0.00793651 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTC13 Cys11Phe C11F not reviewed Insufficiently evaluated not reviewed unknown Array 1 28 0.0357143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM67 Ala264Gly A264G not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - HEATR1 Arg1654His R1654H not reviewed Insufficiently evaluated not reviewed unknown Array rs16833884 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR1 Leu681Val L681V not reviewed Insufficiently evaluated not reviewed unknown Array rs41308194 123 10756 0.0114355 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 1 N - - C1ORF100 Pro52Leu P52L not reviewed Insufficiently evaluated not reviewed unknown Array rs41269383 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMYD3 Thr344Ile T344I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHCTF1 Glu641Gln E641Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41267535 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF695 Met110Ile M110I not reviewed Insufficiently evaluated not reviewed unknown Array rs55762230 292 9658 0.030234 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VN1R5 Arg192Trp R192W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR2M5 Met154Thr M154T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2M5 Ala156Gly A156G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2M4 Ile51Lys I51K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - OR2T12 His51Cys H51C not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AKR1E2 Asp35Asn D35N not reviewed Insufficiently evaluated not reviewed unknown Array rs61745201 592 10758 0.0550288 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - SFMBT2 Ala293Thr A293T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - THNSL1 Ala248Glu A248E not reviewed Insufficiently evaluated not reviewed unknown Array rs34929144 330 10758 0.0306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZEB1 Gln840Pro Q840P benign Low clinical importance, Likely benign unknown Array 42 10758 0.00390407 1 0 1 1 1 1 Y - - 5 Y 0 Y - - - - - - - - 0.999 - - 4 Y 2 N 0 1 Riazuddin, et al 2010 reported seeing this in a large pedigree with late-onset Fuchs corneal dystrophy, although the evidence isn't clear-cut. They also reported not finding the variant in 560 control chromosomes (equiv 230 individuals), and one carrier in a screen of 192 sporadic cases. Based on ExAC allele frequency data, not seeing this variant in 560 control chromosomes is unusual, but possible. However, the incidence of the variant in sporadic Caucasian cases matches ExAC allele frequency data, disproving the hypothesized effect; if this variant caused disease with any notable penetrance, it would be highly enriched with cases. GJD4 Thr288Met T288M not reviewed Insufficiently evaluated not reviewed unknown Array 57 10238 0.00556749 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.603 - - 2 - 1 N - - TET1 AsnLys1018SerGlu NK1018SE not reviewed Insufficiently evaluated not reviewed unknown Array rs16925541 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEUROG3 Gly167Arg G167R not reviewed Insufficiently evaluated not reviewed unknown Array rs41277236 355 10606 0.0334716 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NPFFR1 Stop429Arg X429R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COMTD1 Lys224Asn K224N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRID1 Val529Ile V529I not reviewed Insufficiently evaluated not reviewed unknown Array rs2306265 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - -4 - 2 N - - CFLP1 Thr86Met T86M not reviewed Insufficiently evaluated not reviewed unknown Array rs760178 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNMBP Lys661Arg K661R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NOLC1 Pro189Leu P189L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SUFU Ala340Ser A340S not reviewed Insufficiently evaluated not reviewed unknown Array rs34135067 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - PDCD11 Val744Met V744M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - HABP2 Glu393Gln E393Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11575688 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.045 Y - -2 - 1 N - - C10ORF96 Ser63Phe S63F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10718 9.33e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TCERG1L Gly322Glu G322E not reviewed Insufficiently evaluated not reviewed unknown Array 199 10726 0.018553 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - GPR123 Pro195Leu P195L not reviewed Insufficiently evaluated not reviewed unknown Array rs41283453 85 7772 0.0109367 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR123 Arg262Cys R262C not reviewed Insufficiently evaluated not reviewed unknown Array rs41301445 129 7740 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR123 Leu673Pro L673P not reviewed Insufficiently evaluated not reviewed unknown Array rs41283465 117 7820 0.0149616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM8 Gly101Arg G101R not reviewed Insufficiently evaluated not reviewed unknown Array rs11101675 118 10686 0.0110425 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC6 His1513Leu H1513L not reviewed Insufficiently evaluated not reviewed unknown Array rs68183643 2 96 0.0208333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHRNA10 Glu355Ala E355A not reviewed Insufficiently evaluated not reviewed unknown Array rs2231547 564 10756 0.0524358 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 1 N - - CHRNA10 Gly347Ser G347S not reviewed Insufficiently evaluated not reviewed unknown Array rs2231546 564 10756 0.0524358 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - CHRNA10 Thr77Asn T77N not reviewed Insufficiently evaluated not reviewed unknown Array rs55719530 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - OR52E2 Ile42Thr I42T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - OR51B6 Phe305Leu F305L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBQLNL Ile386Thr I386T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - SYT9 Leu353Val L353V not reviewed Insufficiently evaluated not reviewed unknown Array rs117876446 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - TUB Met335Ile M335I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIC3 Asp220Val D220V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DBX1 Asp341Asn D341N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732858 59 10660 0.00553471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LIN7C Tyr58Cys Y58C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 6 Y 1 N - - AMBRA1 Ala1039Ser A1039S not reviewed Insufficiently evaluated not reviewed unknown Array rs72910100 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MADD Pro157Ser P157S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 3 - 3 N - - OR4C3 Asn197Ser N197S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM48 Stop209Arg X209R not reviewed Insufficiently evaluated not reviewed unknown Array rs61894893 3 100 0.03 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR5D13 Leu17Phe L17F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.561 - - 0 - 1 N - - OR8U8 Met155Val M155V not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - OR5M11 Ser2Ala S2A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - TNKS1BP1 Arg1018Gln R1018Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC43A1 Ser465Asn S465N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZDHHC5 Gly686Ser G686S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - OR9I1 Ile81Thr I81T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - OR1S2 Val225Thr V225T not reviewed Insufficiently evaluated not reviewed unknown Array rs11229277 8 128 0.0625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR5A1 Lys306Thr K306T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - CD5 Ala377Thr A377T not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF66 Ala408Gly A408G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TUT1 Gly712Arg G712R not reviewed Insufficiently evaluated not reviewed unknown Array rs35639864 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NXF1 Leu214Val L214V not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SART1 Pro483Leu P483L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10548 0.00161168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RIN1 Arg195Gln R195Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10696 0.000467464 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - PLEKHB1 Gly78Ser G78S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - BX647206 Arg47Ser R47S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCF11 His1119Tyr H1119Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17513642 32 9916 0.00322711 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ANKRD42 Asn198Asp N198D not reviewed Insufficiently evaluated not reviewed unknown Array rs17515016 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.314 - - -1 - 1 N - - FOLH1B Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10752 0.00204613 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - DYNC2H1 Asp3619His D3619H not reviewed Insufficiently evaluated not reviewed unknown Array 55 9496 0.00579191 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - FDXACB1 Asp160Asn D160N not reviewed Insufficiently evaluated not reviewed unknown Array 76 9766 0.0077821 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - C11ORF1 Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLAT Glu19Gln E19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61757217 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - PIH1D2 Ser100Pro S100P not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 3 - 1 N - - TMPRSS5 Thr242Met T242M not reviewed Insufficiently evaluated not reviewed unknown Array 4 9906 0.000403795 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SORL1 His1813Gln H1813Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62622819 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - -1 - 1 N - - CACNA2D4 Phe996Ser F996S not reviewed Insufficiently evaluated not reviewed unknown Array rs55971855 51 10328 0.00493803 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 5 Y 0 N - - DYRK4 Gln54His Q54H not reviewed Insufficiently evaluated not reviewed unknown Array rs55825154 192 10758 0.0178472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - DDX11 Asp128Asn D128N not reviewed Insufficiently evaluated not reviewed unknown Array rs2429878 4 30 0.133333 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TAS2R14 Leu201Phe L201F not reviewed Insufficiently evaluated not reviewed unknown Array rs35804287 3 128 0.0234375 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TAS2R43 Leu48Val L48V not reviewed Insufficiently evaluated not reviewed unknown Array rs73064970 2332 9952 0.234325 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMP1 Ser57Asn S57N not reviewed Insufficiently evaluated not reviewed unknown Array rs34412222 513 10758 0.0476854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRO Ile228Val I228V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10754 0.00316161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PIK3C2G Stop1446Ser X1446S not reviewed Insufficiently evaluated not reviewed unknown Array rs61757718 144 9568 0.0150502 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OVCH1 Arg715Cys R715C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 8 Y 2 N - - FKBP11 Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - KRT79 His266Arg H266R not reviewed Insufficiently evaluated not reviewed unknown Array rs17688672 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 1 - 0 N - - LRP1 Ala217Val A217V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800127 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - DPY19L2 Arg686Gly R686G not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - GRIP1 Val1015Leu V1015L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9818 0.000101853 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGR5 His218Arg H218R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - HAL Arg369Gln R369Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.943 Y - 0 - 3 N - - APAF1 Gln465Arg Q465R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.224 - - 0 - 1 N - - BTBD11 Ser788Asn S788N not reviewed Insufficiently evaluated not reviewed unknown Array rs61753394 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - CIT Ala1076Val A1076V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK123118 Arg108Cys R108C not reviewed Insufficiently evaluated not reviewed unknown Array rs28395305 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PABPC3 Arg469Gln R469Q not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - MTUS2 Pro202Leu P202L not reviewed Insufficiently evaluated not reviewed unknown Array rs116224145 197 10456 0.0188409 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSPH1 Ile598Val I598V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - C13ORF18 Pro408Ser P408S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HNRNPA1L2 Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10464 0.000382262 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STK24 Ala402Val A402V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADPRHL1 Thr163Ile T163I not reviewed Insufficiently evaluated not reviewed unknown Array 197 10726 0.0183666 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - EDDM3A Glu32Gln E32Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - RABGGTA Leu129Val L129V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10142 0.000394399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - NIN Lys884Arg K884R not reviewed Insufficiently evaluated not reviewed unknown Array rs41299191 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -3 - 0 N - - ABHD12B Gly90Asp G90D not reviewed Insufficiently evaluated not reviewed unknown Array rs35375734 469 10758 0.0435955 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TXNDC16 Asp564Gly D564G not reviewed Insufficiently evaluated not reviewed unknown Array rs61744423 190 10710 0.0177404 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 1 N - - KTN1 Asn1274Ser N1274S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Arg1393Gln R1393Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 9616 0.000831946 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ARG2 His16Arg H16R not reviewed Insufficiently evaluated not reviewed unknown Array rs17185189 56 10756 0.0052064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ACTN1 Thr868Ser T868S not reviewed Insufficiently evaluated not reviewed unknown Array rs11557769 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAPLN Ala868Val A868V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR4 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C14ORF102 Arg1081Cys R1081C not reviewed Insufficiently evaluated not reviewed unknown Array 337 10758 0.0313255 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SERPINA10 Gln384Arg Q384R not reviewed Insufficiently evaluated not reviewed unknown Array rs2232710 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TCL1B Ala99Val A99V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 2 - 0 N - - BDKRB2 Stop392Gly X392G not reviewed Insufficiently evaluated not reviewed unknown Array 9 110 0.0818182 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TDRD9 Glu582Lys E582K not reviewed Insufficiently evaluated not reviewed unknown Array 393 10758 0.036531 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TDRD9 Gln858Glu Q858E not reviewed Insufficiently evaluated not reviewed unknown Array 393 10758 0.036531 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - ZBTB42 Ala134Thr A134T not reviewed Insufficiently evaluated not reviewed unknown Array rs34284721 302 3228 0.0935564 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AHNAK2 Thr2140Ser T2140S not reviewed Insufficiently evaluated not reviewed unknown Array 174 8288 0.0209942 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - AHNAK2 Val2109Ala V2109A not reviewed Insufficiently evaluated not reviewed unknown Array 8 106 0.0754717 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 0 N - - AHNAK2 Arg2108Thr R2108T not reviewed Insufficiently evaluated not reviewed unknown Array 8 106 0.0754717 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.778 - - 3 - 0 N - - AHNAK2 Pro2057Leu P2057L not reviewed Insufficiently evaluated not reviewed unknown Array 12 7522 0.00159532 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.314 - - 7 Y 1 N - - PACS2 Ser61Ala S61A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.85 - - -1 - 2 N - - ADAM6 Val282Ile V282I not reviewed Insufficiently evaluated not reviewed unknown Array 2 78 0.025641 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MTMR10 Lys183Glu K183E not reviewed Insufficiently evaluated not reviewed unknown Array rs67546733 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM1 Ser157Phe S157F not reviewed Insufficiently evaluated not reviewed unknown Array 19 9758 0.00194712 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - SPTBN5 Leu3460Arg L3460R not reviewed Insufficiently evaluated not reviewed unknown Array 75 10402 0.00721015 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TGM7 Val584Met V584M not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - MAP1A Ser1858Cys S1858C not reviewed Insufficiently evaluated not reviewed unknown Array 37 9440 0.00391949 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - GLDN Lys405Thr K405T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 3 - 0 N - - TLN2 Glu2512Gly E2512G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RAB8B Met82Val M82V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DIS3L Ile291Thr I291T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNAPC5 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ISLR Arg303His R303H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SNUPN Asn234Asp N234D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - -1 - 1 N - - ALPK3 Lys1838Gln K1838Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - -2 - 2 N - - AEN Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - ACAN Ser490Leu S490L not reviewed Insufficiently evaluated not reviewed unknown Array 78 10056 0.00775656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF42 Asp904His D904H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR93 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 2 N - - IDH2 Thr435Met T435M not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FES Gly14Arg G14R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 6 Y 1 N - - SV2B Ile510Val I510V not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CHD2 Lys203Arg K203R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -3 - 0 N - - FAM169B Arg133Cys R133C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10094 0.000495343 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - CACNA1H Asp1895His D1895H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TPSG1 Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10746 0.00400149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - TPSAB1 Gly23Val G23V not reviewed Insufficiently evaluated not reviewed unknown Array 1112 10722 0.103712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - ZNF598 Gln367Arg Q367R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10328 9.6824e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRRM2 Arg2033Pro R2033P not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TEKT5 Ala320Val A320V not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMC7 Lys100Thr K100T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 3 - 0 N - - NM_001101368 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - SPNS1 Ala482Thr A482T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - CD2BP2 Thr262Ile T262I not reviewed Insufficiently evaluated not reviewed unknown Array rs34391305 142 10758 0.0131995 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - PRSS36 Val625Ile V625I not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TOX3 Arg155Gln R155Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10364 0.000192975 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 0 - 2 N - - CES3 Tyr160His Y160H not reviewed Insufficiently evaluated not reviewed unknown Array rs71647892 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - -1 - 0 N - - HYDIN Arg4700His R4700H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX38 Glu301Lys E301K not reviewed Insufficiently evaluated not reviewed unknown Array rs61749037 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - LDHD His208Tyr H208Y not reviewed Insufficiently evaluated not reviewed unknown Array 70 8630 0.00811124 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - KARS Asn581Thr N581T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INPP5K Ile112Phe I112F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR1A1 Gly232Asp G232D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 4 Y 1 N - - C17ORF100 Ser101Gly S101G not reviewed Insufficiently evaluated not reviewed unknown Array 5 9642 0.000518564 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747630 Asp52Val D52V not reviewed Insufficiently evaluated not reviewed unknown Array rs9897109 6 128 0.046875 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NCOR1 Thr1566Met T1566M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - 2 - 1 N - - ALDOC Val205Ile V205I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - NEK8 Val690Ile V690I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - - -4 - 0 N - - LIG3 Tyr768Del Y768Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT10 Arg86His R86H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TBKBP1 Ala508Thr A508T not reviewed Insufficiently evaluated not reviewed unknown Array 361 6126 0.0589292 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - OSBPL7 Leu483Met L483M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - -3 - 1 N - - HILS1 Val222Leu V222L not reviewed Insufficiently evaluated not reviewed unknown Array rs1046329 18 128 0.140625 16 0 16 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 0 N - - RECQL5 Arg687Pro R687P not reviewed Insufficiently evaluated not reviewed unknown Array rs34941411 70 9406 0.00744206 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.82 - - 5 Y 1 N - - RECQL5 Ser628Asn S628N not reviewed Insufficiently evaluated not reviewed unknown Array rs35566780 105 10442 0.0100555 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - EVPL Ala350Val A350V not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBE2O Val684Lys V684K not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C17ORF99 Pro27Ser P27S not reviewed Insufficiently evaluated not reviewed unknown Array rs72898209 28 3234 0.00865801 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CANT1 Gly391Glu G391E not reviewed Insufficiently evaluated not reviewed unknown Array rs34082669 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - TBC1D16 Ala206Thr A206T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10752 0.000558035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C17ORF70 Ser617Leu S617L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10750 0.00390698 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF62 Leu49Phe L49F not reviewed Insufficiently evaluated not reviewed unknown Array rs72857481 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD12 Ser1368Arg S1368R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AFG3L2 Leu772Phe L772F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - KIAA1632 Ser424Asn S424N not reviewed Insufficiently evaluated not reviewed unknown Array 102 9648 0.0105721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - LIPG Arg476Trp R476W not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 1 N - - CCDC68 Cys85Tyr C85Y not reviewed Insufficiently evaluated not reviewed unknown Array rs72928889 272 10758 0.0252835 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - TSHZ1 Glu333Gln E333Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DOT1L Leu1379Met L1379M not reviewed Insufficiently evaluated not reviewed unknown Array 93 9768 0.00952088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - ZNF554 Ala20Val A20V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9864 0.000101378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIRT6 His342Asp H342D not reviewed Insufficiently evaluated not reviewed unknown Array 30 9390 0.00319489 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.516 - - 3 - 1 N - - FSD1 Stop497Gln X497Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPRS Ala991Val A991V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230610 190 9896 0.0191997 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - SLC25A41 Asn152Ser N152S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10244 0.000390472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FCER2 Gly76Ser G76S not reviewed Insufficiently evaluated not reviewed unknown Array rs72558007 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 2 - 0 N - - MYO1F Asp954Tyr D954Y not reviewed Insufficiently evaluated not reviewed unknown Array 34 9456 0.0035956 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF559 Asp18Gly D18G not reviewed Insufficiently evaluated not reviewed unknown Array rs77267061 482 10758 0.0448039 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - DNM2 Arg290Gln R290Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.703 Y - 0 - 2 N - - AX747991 Arg107Lys R107K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF333 Gln302Glu Q302E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.113 - - -2 - 0 N - - HAUS8 Pro399Leu P399L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735360 218 10758 0.020264 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM125A Asp249Asn D249N not reviewed Insufficiently evaluated not reviewed unknown Array rs35944915 297 10756 0.0276125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - TMEM59L Gly62Asp G62D not reviewed Insufficiently evaluated not reviewed unknown Array 139 10748 0.0129326 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - GMIP Glu202Gly E202G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF43 Pro792His P792H not reviewed Insufficiently evaluated not reviewed unknown Array 92 10754 0.00855496 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF181 Ser400Asn S400N not reviewed Insufficiently evaluated not reviewed unknown Array rs61739988 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSR Ala641Ser A641S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - -1 - 1 N - - PRODH2 Arg525Gln R525Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3761097 414 10758 0.038483 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.871 Y - 0 - 3 N - - AX747376 Gln164Arg Q164R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF571 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731963 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - 1 - 1 N - - NM_001004318 Asp319Tyr D319Y not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 7 Y 1 N - - CLC Ile130Ser I130S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 5 Y 2 N - - SPTBN4 Ala39Val A39V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10746 0.00158198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPTBN4 Asn1557Ser N1557S not reviewed Insufficiently evaluated not reviewed unknown Array 9 110 0.0818182 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRR19 Lys203Gln K203Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - -2 - 1 N - - ZNF428 Arg149Gln R149Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11553724 144 10756 0.0133879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - ZNF235 Thr594Asn T594N not reviewed Insufficiently evaluated not reviewed unknown Array rs45540435 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - 1 - 1 N - - CCDC61 Gly457Arg G457R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742389 121 10004 0.0120952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEIS3P1 Arg117Leu R117L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TPRX1 Gly205GlyLeuIleProGlyProIleSerGlyProAsnProGly G205GLIPGPISGPNPG not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FUZ Thr335Asn T335N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - 1 - 0 N - - SIGLEC11 Glu84Ala E84A not reviewed Insufficiently evaluated not reviewed unknown Array rs9676436 4 56 0.0714286 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SIGLEC7 Ile232Met I232M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.246 - - -1 - 1 N - - ZNF615 Arg462Gln R462Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 1 N - - ZNF808 Arg754Cys R754C not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LENG1 Glu97Lys E97K not reviewed Insufficiently evaluated not reviewed unknown Array rs35089861 413 10758 0.03839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - BRSK1 Gly749Ser G749S not reviewed Insufficiently evaluated not reviewed unknown Array rs12978445 762 10460 0.0728489 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TRIB2 His4Arg H4R not reviewed Insufficiently evaluated not reviewed unknown Array rs55813198 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASXL2 Gln1371Lys Q1371K not reviewed Insufficiently evaluated not reviewed unknown Array 31 10274 0.00301732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - FAM59B Ser135Cys S135C not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 3 - 1 N - - FAM98A Thr517Ala T517A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX57 Val826Met V826M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - ABCG5 Ile609Val I609V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.868 Y - -4 - 3 N - - RETSAT Arg457Gln R457Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41289947 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - KRCC1 Val207Ile V207I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -4 - 1 N - - THNSL2 Asp78Asn D78N not reviewed Insufficiently evaluated not reviewed unknown Array rs34841493 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.862 - - -1 - 2 N - - ANKRD36B Glu492Asp E492D not reviewed Insufficiently evaluated not reviewed unknown Array rs2922565 8 76 0.105263 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKRD36B Thr407Ala T407A not reviewed Insufficiently evaluated not reviewed unknown Array 10 88 0.113636 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ANKRD36B Ile150Lys I150K not reviewed Insufficiently evaluated not reviewed unknown Array 2 68 0.0294118 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAZ2B Asp1805Asn D1805N not reviewed Insufficiently evaluated not reviewed unknown Array 57 9678 0.00588965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - SCN7A Arg1634His R1634H not reviewed Insufficiently evaluated not reviewed unknown Array 142 9638 0.0147333 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - LRP2 Leu3299Phe L3299F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 - Y 0 - 3 N - - AB058746 Thr472Ile T472I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CXCR2P1 Asn65Lys N65K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTLL4 Asp1005Gly D1005G not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 4 Y 1 N - - FAM134A Leu239Gln L239Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 1 N - - OBSL1 Met294Val M294V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR55 Met167Ile M167I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - -1 - 1 N - - ESPNL Arg653Trp R653W not reviewed Insufficiently evaluated not reviewed unknown Array 124 10144 0.012224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PER2 His476Asn H476N not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 0 - 0 N - - MCM8 Ile717Val I717V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754763 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -4 - 0 N - - KIF16B Ala1059Thr A1059T not reviewed Insufficiently evaluated not reviewed unknown Array rs117138500 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - ABHD12 Arg257Trp R257W not reviewed Insufficiently evaluated not reviewed unknown Array rs41306784 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - BPIL3 Gly21Glu G21E not reviewed Insufficiently evaluated not reviewed unknown Array rs41293138 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.386 - - 6 Y 1 N - - KIAA1755 Cys73Tyr C73Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10688 0.00168413 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - LBP Asn336Lys N336K not reviewed Insufficiently evaluated not reviewed unknown Array rs11536982 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - HNF4A Thr139Ile T139I not reviewed Insufficiently evaluated not reviewed unknown Array rs1800961 258 10758 0.0239822 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 3 - 1 N - - MATN4 Val231Phe V231F not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - ZNF335 Ala276Thr A276T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC9A8 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs76846045 88 7764 0.0113344 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - PARD6B Gln279His Q279H not reviewed Insufficiently evaluated not reviewed unknown Array rs41283604 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MOCS3 Ile288Phe I288F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 2 - 0 N - - TUBB1 Thr274Met T274M not reviewed Insufficiently evaluated not reviewed unknown Array rs35565630 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - CABLES2 Met167Ile M167I not reviewed Insufficiently evaluated not reviewed unknown Array rs41284974 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 2 N - - NM_001037335 Ser338Leu S338L not reviewed Insufficiently evaluated not reviewed unknown Array rs1741594 1479 10752 0.137556 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 1 N - - KCNJ15 Leu368Pro L368P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMPRSS2 Thr75Met T75M not reviewed Insufficiently evaluated not reviewed unknown Array rs3787950 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C21ORF128 Pro127Ala P127A not reviewed Insufficiently evaluated not reviewed unknown Array rs12482506 65 3234 0.0200989 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TFF1 Thr22Ile T22I not reviewed Insufficiently evaluated not reviewed unknown Array rs34795821 112 10756 0.0104128 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - RRP1 Ile221Thr I221T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PFKL Arg737Trp R737W not reviewed Insufficiently evaluated not reviewed unknown Array 18 10734 0.00167691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - PCNT Glu1890Gln E1890Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 - - -2 - 2 N - - AB020626 Lys112Glu K112E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCARF2 Pro661Leu P661L not reviewed Insufficiently evaluated not reviewed unknown Array rs9680797 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - P2RX6 Thr27Met T27M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC7A4 Met50Val M50V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 0 - 2 N - - RIMBP3B Val1054Ala V1054A not reviewed Insufficiently evaluated not reviewed unknown Array rs468890 18 18 1 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RIMBP3B Trp1062Arg W1062R not reviewed Insufficiently evaluated not reviewed unknown Array rs468896 18 18 1 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RIMBP3C Trp1062Arg W1062R not reviewed Insufficiently evaluated not reviewed unknown Array rs468896 18 18 1 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - RIMBP3C Val1054Ala V1054A not reviewed Insufficiently evaluated not reviewed unknown Array rs468890 18 18 1 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DERL3 Thr109Ile T109I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10720 9.3283e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - GGT5 Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array 177 10646 0.016626 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TFIP11 Asn338His N338H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - HMOX1 Asp7His D7H not reviewed Insufficiently evaluated not reviewed unknown Array rs2071747 275 9426 0.0291746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT27 Ala167Val A167V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAIAP2L2 Pro407Ser P407S not reviewed Insufficiently evaluated not reviewed unknown Array rs132924 222 9798 0.0226577 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.852 - - 3 - 2 N - - BAIAP2L2 Ser406Thr S406T not reviewed Insufficiently evaluated not reviewed unknown Array rs78489217 268 9800 0.0273469 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.88 - - -2 - 2 N - - TTC38 Glu387Lys E387K not reviewed Insufficiently evaluated not reviewed unknown Array rs56340734 117 10298 0.0113614 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SBF1 Val167Met V167M not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - FBLN2 Thr749Ile T749I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10334 0.00145152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FGD5 Val738Ile V738I not reviewed Insufficiently evaluated not reviewed unknown Array rs67571220 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRANK1 His501Tyr H501Y not reviewed Insufficiently evaluated not reviewed unknown Array 19 9854 0.00192815 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BX648094 Pro225Ala P225A not reviewed Insufficiently evaluated not reviewed unknown Array rs17646517 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC6A20 Lys549Arg K549R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - CCR3 Ile267Asn I267N not reviewed Insufficiently evaluated not reviewed unknown Array rs41515745 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ERC2 Asn803Thr N803T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745935 13 10338 0.0012575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17RD Pro566Ser P566S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742267 162 10758 0.0150586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - APPL1 Asn654Ser N654S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5H14 Cys179Arg C179R not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - C3ORF15 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ILDR1 Ser391Arg S391R not reviewed Insufficiently evaluated not reviewed unknown Array rs35597690 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEMA5B Met742Thr M742T not reviewed Insufficiently evaluated not reviewed unknown Array rs2276781 524 10746 0.0487623 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL6A6 Arg2107Gln R2107Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9778 0.00010227 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - COPB2 His467Leu H467L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - CHST2 Arg287Leu R287L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10726 0.00214432 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - RNF13 Asn379His N379H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - YEATS2 Ala1104Pro A1104P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - ABCF3 Arg340Trp R340W not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BC073879 His104Gln H104Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 58 0.0344828 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE6B Glu166Lys E166K not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 1 N - - KIAA1530 Glu37Asp E37D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C4ORF23 Trp308Cys W308C not reviewed Insufficiently evaluated not reviewed unknown Array rs35357682 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLIT2 Ser1350Asn S1350N not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - GBA3 Ala382Val A382V not reviewed Insufficiently evaluated not reviewed unknown Array 11 9474 0.00116107 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LNX1 Arg455Cys R455C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.345 - - 8 Y 1 N - - NM_001011538 Lys121Glu K121E not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AASDH Val409Gly V409G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - REST Pro815Ser P815S not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UGT2B11 Leu63Ile L63I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10680 0.000468164 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CDS1 Leu99Phe L99F not reviewed Insufficiently evaluated not reviewed unknown Array rs36068434 407 10758 0.0378323 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MAML3 Asn294Ser N294S not reviewed Insufficiently evaluated not reviewed unknown Array 24 9810 0.00244648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCLK2 Ile374Leu I374L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NAF1 Ser264Asn S264N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX60L Pro1081Gln P1081Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - CBR4 Val228Leu V228L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBR4 Asp184His D184H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 3 - 2 N - - CCDC111 Val102Ala V102A not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - FAT1 Met1149Thr M1149T not reviewed Insufficiently evaluated not reviewed unknown Array 48 9722 0.00493725 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 Y - 2 - 3 N - - PDCD6 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.734 - - 1 - 1 N - - SLC6A3 Leu167Phe L167F not reviewed Insufficiently evaluated not reviewed unknown Array rs71653633 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RXFP3 Pro136Thr P136T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - PAPD4 Leu395Phe L395F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DQ579214 Asn136Ser N136S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMXL1 Pro2274Ser P2274S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNCAIP Glu709Gln E709Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55712196 77 10758 0.00715746 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - LMNB1 Ala501Val A501V not reviewed Insufficiently evaluated not reviewed unknown Array rs36105360 211 10758 0.0196133 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - RAPGEF6 Val1559Glu V1559E not reviewed Insufficiently evaluated not reviewed unknown Array rs1064539 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SHROOM1 Pro104Leu P104L not reviewed Insufficiently evaluated not reviewed unknown Array 32 3748 0.00853789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCDHGB8P Ala378Thr A378T not reviewed Insufficiently evaluated not reviewed unknown Array rs3828681 9 128 0.0703125 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PCDH12 Arg860Gln R860Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - KIF4B Ile465Leu I465L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.208 - - -2 - 1 N - - PPP1R2P3 Asp169Asn D169N not reviewed Insufficiently evaluated not reviewed unknown Array rs62619239 6 128 0.046875 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.269 - - -1 - 1 N - - SLIT3 Ser629Asn S629N not reviewed Insufficiently evaluated not reviewed unknown Array rs34260167 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.71 - - 0 - 1 N - - ZNF354B Val51Leu V51L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZFP62 Thr384Asn T384N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTNL9 Arg101Leu R101L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.224 - - 6 Y 1 N - - RREB1 Cys755Tyr C755Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KDM1B Met416Leu M416L not reviewed Insufficiently evaluated not reviewed unknown Array rs41267732 317 10758 0.0294664 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DEK Val140Ala V140A not reviewed Insufficiently evaluated not reviewed unknown Array rs17336208 377 10758 0.0350437 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIST1H1E Lys152Arg K152R not reviewed Insufficiently evaluated not reviewed unknown Array rs2298090 52 10698 0.00486072 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AK309286 Arg84Pro R84P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCHCR1 Arg603Cys R603C not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRRC2A Pro106Leu P106L not reviewed Insufficiently evaluated not reviewed unknown Array rs2280801 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOTCH4 Gly534Ser G534S not reviewed Insufficiently evaluated not reviewed unknown Array rs8192591 275 10758 0.0255624 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CUL9 Thr2180Ile T2180I not reviewed Insufficiently evaluated not reviewed unknown Array rs11962520 242 10756 0.0224991 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 3 - 2 N - - TDRD6 Glu705Del E705Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EFHC1 Ile619Leu I619L not reviewed Insufficiently evaluated not reviewed unknown Array rs17851770 693 10758 0.0644172 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - -2 - 1 N - - HCRTR2 Pro10Ser P10S not reviewed Insufficiently evaluated not reviewed unknown Array rs41271310 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - C6ORF150 Gly101Arg G101R not reviewed Insufficiently evaluated not reviewed unknown Array 86 7908 0.0108751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF150 Ala17Gly A17G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10560 0.00445076 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD109 Gln416Glu Q416E not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - ASCC3 Leu898Val L898V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - LIN28B His199Arg H199R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 1 - 1 N - - KIAA1919 Leu182Tyr L182Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - REV3L Asp1812His D1812H not reviewed Insufficiently evaluated not reviewed unknown Array rs3218599 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RFPL4B Gly256Ser G256S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VNN1 Thr336Ala T336A not reviewed Insufficiently evaluated not reviewed unknown Array rs45562238 274 10758 0.0254694 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MAP7 Val361Ile V361I not reviewed Insufficiently evaluated not reviewed unknown Array rs35350783 273 10758 0.0253765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OLIG3 Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array rs62434134 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - RAET1G Ser306Pro S306P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - RAET1G Asp305Asn D305N not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 1 N - - TNRC18 Ser1925Trp S1925W not reviewed Insufficiently evaluated not reviewed unknown Array 29 7730 0.00375162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.909 - - 7 Y 2 N - - RSPH10B Thr71Ser T71S not reviewed Insufficiently evaluated not reviewed unknown Array rs2711191 12 104 0.115385 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ANKMY2 Leu420Phe L420F not reviewed Insufficiently evaluated not reviewed unknown Array rs35504966 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRIL Gly368Asp G368D not reviewed Insufficiently evaluated not reviewed unknown Array rs3735562 2065 9814 0.210414 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AVL9 Arg488Trp R488W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - EEPD1 Pro416Ser P416S not reviewed Insufficiently evaluated not reviewed unknown Array rs196594 854 10758 0.0793828 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NACAD Ala11Val A11V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IKZF1 Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF680 Ala81Pro A81P not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 1 N - - CLDN12 Met98Val M98V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PPP1R9A Met1125Thr M1125T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DLX5 AlaHis239GlyTyr AH239GY not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACHE Pro135Ala P135A not reviewed Insufficiently evaluated not reviewed unknown Array rs17885778 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RELN Ala2545Val A2545V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - 2 - 1 N - - ASB15 Ala568Del A568Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF800 Pro103Ser P103S not reviewed Insufficiently evaluated not reviewed unknown Array rs62621812 174 10756 0.016177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - CPA5 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array rs17388190 264 10758 0.0245399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.789 - - 3 - 1 N - - LUC7L2 Glu287Asp E287D not reviewed Insufficiently evaluated not reviewed unknown Array rs118183173 55 10424 0.00527629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIPK2 Gly240Asp G240D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - NR_003715 Glu471Lys E471K not reviewed Insufficiently evaluated not reviewed unknown Array rs76786761 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM139 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61737885 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - ZNF398 Ser255Asn S255N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AF035281 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GIMAP6 Thr78Ala T78A not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - CHPF2 Arg254His R254H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.448 - - 1 - 1 N - - MLL3 Asn729Asp N729D not reviewed Insufficiently evaluated not reviewed unknown Array rs4639425 1 2 0.5 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NOM1 Ile499Met I499M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - -1 - 2 N - - AB209502 Gly2382Ser G2382S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGPAT5 Gly33Ala G33A not reviewed Insufficiently evaluated not reviewed unknown Array 166 10746 0.0154476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CTSB Val232Ile V232I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - ATP6V1B2 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 10690 0.00664172 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 Y - 0 - 1 N - - TEX15 Ser2740Phe S2740F not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NRG1 Val266Leu V266L not reviewed Insufficiently evaluated not reviewed unknown Array 382 10758 0.0355085 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HTRA4 Ala234Ser A234S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ANK1 Tyr166Phe Y166F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - Y -4 - 1 N - - RB1CC1 Met1451Val M1451V not reviewed Insufficiently evaluated not reviewed unknown Array 72 10710 0.00672269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TGS1 Asp150Asn D150N not reviewed Insufficiently evaluated not reviewed unknown Array rs61740025 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8ORF46 Ala78Ser A78S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736270 4 110 0.0363636 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSPP1 His366Arg H366R not reviewed Insufficiently evaluated not reviewed unknown Array 8 9640 0.000829875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SULF1 Val814Met V814M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - TPD52 Tyr9His Y9H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FZD6 Leu16Val L16V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP12 Cys355Gly C355G not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - WDR67 Arg94His R94H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - MYC Asn26Ser N26S not reviewed Insufficiently evaluated not reviewed unknown Array rs4645959 315 10758 0.0292805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM83H Arg1020Gln R1020Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 10332 0.00629113 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 1 N - - COMMD5 Gly72Ala G72A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - KIAA1045 Arg109Trp R109W not reviewed Insufficiently evaluated not reviewed unknown Array 2 9866 0.000202716 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - C9ORF131 Arg643Ser R643S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRUNE2 Glu2512Lys E2512K not reviewed Insufficiently evaluated not reviewed unknown Array rs11145014 473 7820 0.0604859 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PRUNE2 Gly543Glu G543E not reviewed Insufficiently evaluated not reviewed unknown Array 4 7820 0.000511508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR2K2 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HDHD3 Ala93Val A93V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CERCAM Cys391Ser C391S not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ASB6 Ile109Thr I109T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 3 - 2 N - - POMT1 Arg500Lys R500K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10382 0.00134849 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -3 - 1 N - - FCN1 Thr150Met T150M not reviewed Insufficiently evaluated not reviewed unknown Array rs56084543 31 10742 0.00288587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - LCN1 Gly100Arg G100R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KCNT1 Arg1221Cys R1221C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNLZ Ala163Val A163V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729715 38 10714 0.00354676 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SEC16A Thr2058Met T2058M not reviewed Insufficiently evaluated not reviewed unknown Array rs45519739 110 9726 0.0113099 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCN12 Asp125Asn D125N not reviewed Insufficiently evaluated not reviewed unknown Array rs45578835 62 10340 0.00599613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ZNF41 Ala666Val A666V not reviewed Insufficiently evaluated not reviewed unknown Array 12 8761 0.00136971 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.783 Y - 2 - 2 N - - HEPH Arg1065Gln R1065Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL4A6 Ile1161Val I1161V not reviewed Insufficiently evaluated not reviewed unknown Array rs34466065 382 8761 0.0436023 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRCH2 Ala35Gly A35G not reviewed Insufficiently evaluated not reviewed unknown Array 1 87 0.0114943 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAGEC1 Leu424Phe L424F not reviewed Insufficiently evaluated not reviewed unknown Array rs56675069 9 8737 0.0010301 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGEC1 Ala434Thr A434T not reviewed Insufficiently evaluated not reviewed unknown Array rs59853306 8 8743 0.000915017 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP4 Val772Leu V772L not reviewed Insufficiently evaluated not reviewed unknown Array rs2070099 226 8699 0.02598 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMRTA2 Val535Shift V535Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Pro1564Leu P1564L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CFH Asn1050Tyr N1050Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35274867 257 10758 0.0238892 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.538 Y Y 5 Y 3 N - - RRP15 Ser272Shift S272Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FH Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GPR158 Leu857Shift L857Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP2C19 Trp120Arg W120R not reviewed Insufficiently evaluated not reviewed unknown Array rs41291556 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FGFR2 Ser57Leu S57L not reviewed Insufficiently evaluated not reviewed unknown Array rs56226109 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - OR8K3 Gln260Stop Q260X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AX747192 Lys256Shift K256Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11364788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEP57 Tyr61Stop Y61X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MMP27 Arg124Stop R124X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAD52 Tyr415Stop Y415X not reviewed Insufficiently evaluated not reviewed unknown Array rs4987208 139 9628 0.0144371 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK094231 Leu94Shift L94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSFM Pro173Thr P173T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - GNPTAB Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - TGM1 Ile245Val I245V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.693 Y Y -4 - 3 N - - ATXN3 Glu195Lys E195K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CELF6 Gln389Shift Q389Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RPGRIP1L Ala1183Gly A1183G benign Low clinical importance, Uncertain benign unknown Array 120 10758 0.0111545 2 0 2 1 1 ! Y 0 Y 4 Y - - - - - - Y - - - 0.906 Y Y 1 - 4 N 0 0 Probably not pathogenic, although it may have a modifier effect in other diseases. Other disruptive variants in this gene are implicated in causing Joubert Syndrome and Meckel Syndrome in a recessive manner. Although this variant is somewhat rare (1.1% allele frequency) and Polyphen 2 predicts it to be disruptive, most reported disease-causing variants in the gene are more disruptive frameshift or nonsense mutations & occur upstream of this position. BC160930 Ala199Shift A199Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 22 0.0454545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Ala297Shift A297Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF74 Pro481Shift P481Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC144B Glu97Stop E97X not reviewed Insufficiently evaluated not reviewed unknown Array 1030 10720 0.0960821 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - SLC25A39 Arg217Stop R217X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs68060659 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs71363550 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs68060658 18 34 0.529412 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - AZU1 Val232Shift V232Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SNAPC2 Lys143Shift K143Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC125186 Tyr348Shift Y348Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RASAL3 Ser819Shift S819Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRP3 Gln575Shift Q575Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CATSPERG Ile141Shift I141Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF546 Arg430Stop R430X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MATN3 Glu252Lys E252K not reviewed Insufficiently evaluated not reviewed unknown Array rs52826764 209 9834 0.0212528 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - VIT Tyr234Stop Y234X not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SOS1 Pro655Leu P655L not reviewed Insufficiently evaluated not reviewed unknown Array rs56219475 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - TMEM177 Arg285Stop R285X not reviewed Insufficiently evaluated not reviewed unknown Array rs61730482 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK123346 Gln17Stop Q17X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACMSD Arg20Shift R20Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Tyr924Ser Y924S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SCN1A Asp45AspAsp D45DD not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Val4191Met V4191M not reviewed Insufficiently evaluated not reviewed unknown Array rs72648937 79 9918 0.00796532 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Pro3751Arg P3751R not reviewed Insufficiently evaluated not reviewed unknown Array rs72648927 61 9628 0.00633569 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - DEFB128 His62Shift H62Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTLL9 Arg380Stop R380X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC5A4 Arg52Stop R52X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TBCCD1 Ala173Shift A173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POLK Arg246Stop R246X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LIX1 Asn29Shift N29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HOXA1 His146Asn H146N not reviewed Insufficiently evaluated not reviewed unknown Array rs45571645 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.673 Y Y 0 - 3 N - - HOXA7 Gly17Arg G17R not reviewed Insufficiently evaluated not reviewed unknown Array 90 10736 0.00838301 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - COL1A2 Arg693Gln R693Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34147460 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TRRAP Glu2879Shift E2879Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF705D Phe111Shift F111Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71205065 4 4 1 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RP1 Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.077 Y - 7 Y 1 N - - SLC2A8 Gln268Stop Q268X not reviewed Insufficiently evaluated not reviewed unknown Array rs41276194 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SH2D3C Asp72Shift D72Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SAMD11 Glu74Lys E74K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - MORN1 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array rs56199918 15 10746 0.00139587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 0 N - - ENO1 Asn177Lys N177K not reviewed Insufficiently evaluated not reviewed unknown Array rs11544513 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CLSTN1 Glu951Gly E951G not reviewed Insufficiently evaluated not reviewed unknown Array rs72633874 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - 6 Y 1 N - - VPS13D Ile1624Thr I1624T not reviewed Insufficiently evaluated not reviewed unknown Array rs41279454 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - BC033082 Tyr100Cys Y100C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCEB3 Glu621Lys E621K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM46B Asn358Thr N358T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP3K6 Pro985Leu P985L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10740 0.000465549 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - ZCCHC17 Arg5Gly R5G not reviewed Insufficiently evaluated not reviewed unknown Array rs41272137 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - PHC2 Thr313Met T313M not reviewed Insufficiently evaluated not reviewed unknown Array rs41265895 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP7D1 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.566 - - 0 - 1 N - - MACF1 Met669Thr M669T not reviewed Insufficiently evaluated not reviewed unknown Array rs41270805 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP4A22 Pro385Leu P385L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736431 207 10758 0.0192415 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FAF1 Pro177Ser P177S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FAM151A Lys79Asn K79N not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 1 - 2 N - - FAM151A Arg64Gln R64Q not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - NEXN Glu205Lys E205K not reviewed Insufficiently evaluated not reviewed unknown Array 3 9514 0.000315324 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - CLCC1 Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array rs36032236 221 10758 0.0205429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CELSR2 Asp74Glu D74E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CELSR2 Leu1014His L1014H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.721 - - 6 Y 1 N - - BC034233 Met1Arg M1R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742877 11 128 0.0859375 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SEMA6C Pro207Ser P207S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - LCE1B Thr26Ile T26I not reviewed Insufficiently evaluated not reviewed unknown Array rs41268508 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGLYRP3 Val75Ile V75I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - S100A6 Gly21Ser G21S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCGR2C Pro82Gln P82Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10486 0.00038146 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LRRC52 Arg277Cys R277C not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRRC2C Asn2568Ser N2568S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - UCHL5 Arg28Leu R28L not reviewed Insufficiently evaluated not reviewed unknown Array rs41265201 78 4586 0.0170083 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LGR6 His916Arg H916R not reviewed Insufficiently evaluated not reviewed unknown Array rs56400751 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - CNTN2 Thr487Ile T487I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - DSTYK Arg739Trp R739W not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - 7 Y 1 N - - C1ORF107 Asp344Asn D344N not reviewed Insufficiently evaluated not reviewed unknown Array rs41274840 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC30A10 Gly418Arg G418R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITPKB Leu945Val L945V not reviewed Insufficiently evaluated not reviewed unknown Array rs41268733 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 0 - 1 N - - PRSS38 Ala123Asp A123D not reviewed Insufficiently evaluated not reviewed unknown Array rs61826983 237 10758 0.0220301 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - PRSS38 Ile224Asn I224N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741607 386 10756 0.0358869 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - OBSCN Val3567Leu V3567L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10112 0.00168117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - TRIM67 Met679Val M679V not reviewed Insufficiently evaluated not reviewed unknown Array 129 10740 0.0120112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - C1ORF101 Thr66Lys T66K not reviewed Insufficiently evaluated not reviewed unknown Array rs11586356 274 10756 0.0254742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP3 Gln705Lys Q705K not reviewed Insufficiently evaluated not reviewed unknown Array rs35829419 369 10758 0.0343001 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - OR2M7 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array rs41304036 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - AKR1CL1 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729616 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD26 Glu1003Lys E1003K not reviewed Insufficiently evaluated not reviewed unknown Array rs41304587 11 9782 0.00112451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF438 Gly685Val G685V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - DDX21 Thr27Ile T27I not reviewed Insufficiently evaluated not reviewed unknown Array rs17556220 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NUDT13 Met273Val M273V not reviewed Insufficiently evaluated not reviewed unknown Array rs17658872 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - OPN4 Arg376His R376H not reviewed Insufficiently evaluated not reviewed unknown Array rs35130918 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCE1 Ser469Thr S469T not reviewed Insufficiently evaluated not reviewed unknown Array rs17508082 305 10276 0.0296808 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.697 Y - -2 - 2 N - - NOC3L Pro119Ala P119A not reviewed Insufficiently evaluated not reviewed unknown Array rs45484894 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - C10ORF12 Leu314Pro L314P not reviewed Insufficiently evaluated not reviewed unknown Array rs7082522 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ELOVL3 Asp109Asn D109N not reviewed Insufficiently evaluated not reviewed unknown Array rs36103207 335 10758 0.0311396 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GBF1 Asp365Asn D365N not reviewed Insufficiently evaluated not reviewed unknown Array rs41293038 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - ITPRIP Arg104Trp R104W not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - VWA2 Val366Met V366M not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 0 - 0 N - - IRF7 Asp204Asn D204N not reviewed Insufficiently evaluated not reviewed unknown Array rs41313489 40 10746 0.00372231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - CARS Gly342Ser G342S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR51I2 Arg263Cys R263C not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - UBQLN3 Gln317Glu Q317E not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.665 - - -2 - 1 N - - AB290171 Ile2720Thr I2720T not reviewed Insufficiently evaluated not reviewed unknown Array rs11604362 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SAA1 Lys108Arg K108R not reviewed Insufficiently evaluated not reviewed unknown Array rs1059571 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UEVLD Val234Met V234M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 0 - 2 N - - BC156059 Glu1008Lys E1008K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACP2 Asp353Glu D353E not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.411 - - -2 - 1 N - - OR4X1 Pro278Thr P278T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - OR5F1 Leu166Ser L166S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 6 Y 1 N - - OR5T3 Ala146Ser A146S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - DAK Arg228Gln R228Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - DAGLA Leu988Val L988V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A10 Thr474Met T474M not reviewed Insufficiently evaluated not reviewed unknown Array rs72926329 517 9580 0.0539666 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ATG2A Glu345Gln E345Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.677 - - -2 - 1 N - - TSGA10IP Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71455793 277 10270 0.0269718 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP57 Leu50Pro L50P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 7 Y 1 N - - SIDT2 Ala644Ser A644S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - -1 - 1 N - - IFT46 Pro152Ala P152A not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYOU1 Lys398Arg K398R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - BSX Pro11Ala P11A not reviewed Insufficiently evaluated not reviewed unknown Array rs62624971 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.65 - - 2 - 1 N - - KCNJ1 Met357Thr M357T not reviewed Insufficiently evaluated not reviewed unknown Array rs59172778 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.324 Y - 2 - 2 N - - JAM3 Pro61Ala P61A not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ERC1 Ser50Gly S50G not reviewed Insufficiently evaluated not reviewed unknown Array rs35037408 333 10758 0.0309537 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMTC1 Arg769Gln R769Q not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - DNM1L Asn278Ser N278S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP3 Arg100Cys R100C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 8 Y 1 N - - CCDC65 Val68Ala V68A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAJC22 Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SLC4A8 Arg507His R507H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 1 - 0 N - - KRT84 Arg7Gln R7Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - GDF11 Gly210Val G210V not reviewed Insufficiently evaluated not reviewed unknown Array rs35639297 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - C12ORF26 Leu72Arg L72R not reviewed Insufficiently evaluated not reviewed unknown Array 758 10758 0.0704592 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLEKHG7 Asp99Gly D99G not reviewed Insufficiently evaluated not reviewed unknown Array rs17790310 444 10758 0.0412716 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - TCP11L2 Arg150Gln R150Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - CMKLR1 Arg247Cys R247C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SELPLG Leu246Arg L246R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBE3B Arg179Trp R179W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBM19 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIT Pro374Arg P374R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - GCN1L1 Val386Met V386M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10482 0.000381606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANAPC5 Ala630Val A630V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SFSWAP Thr565Ala T565A not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPATA13 Ser433Asn S433N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CENPJ Asn1102Ser N1102S not reviewed Insufficiently evaluated not reviewed unknown Array rs41300592 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.133 - Y 0 - 1 N - - TDRD3 Leu428Pro L428P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 7 Y 0 N - - DIS3 Ala768Val A768V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - RNF219 Asn637His N637H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - UGGT2 His1381Arg H1381R not reviewed Insufficiently evaluated not reviewed unknown Array rs45454901 285 10758 0.0264919 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - GPR18 Leu187Met L187M not reviewed Insufficiently evaluated not reviewed unknown Array rs41279138 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.221 - - -3 - 1 N - - SLC10A2 Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BC034570 Arg248Cys R248C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DQ866763 Leu240Pro L240P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNASE3 Gly83Ser G83S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10734 0.0012111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 2 - 0 N - - ZNF219 Gln229Pro Q229P not reviewed Insufficiently evaluated not reviewed unknown Array rs11278664 201 10102 0.019897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 4 Y 1 N - - LRRC16B Asp379Gly D379G not reviewed Insufficiently evaluated not reviewed unknown Array rs45508393 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NYNRIN Thr1238Ala T1238A not reviewed Insufficiently evaluated not reviewed unknown Array 94 9652 0.00973891 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - G2E3 Ala636Thr A636T not reviewed Insufficiently evaluated not reviewed unknown Array rs45475495 74 10756 0.00687988 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - BC053597 Ala59Ser A59S not reviewed Insufficiently evaluated not reviewed unknown Array rs45449092 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK094488 Glu56Lys E56K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VTI1B Leu91Val L91V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACOT4 AlaTyr189GlnSer AY189QS not reviewed Insufficiently evaluated not reviewed unknown Array rs79684878 6 124 0.0483871 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C14ORF153 Pro14Thr P14T not reviewed Insufficiently evaluated not reviewed unknown Array rs2274268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0284 ArgSer771Del RS771Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60001925 5 92 0.0543478 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AHNAK2 GlnVal2090GluIle QV2090EI not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK2 Met799Leu M799L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - C14ORF80 Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APBA2 Thr659Met T659M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - FAM189A1 Gln538Pro Q538P not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - DISP2 Ser1284Thr S1284T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - CASC5 Ser1481Tyr S1481Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAJC17 Glu117Ala E117A not reviewed Insufficiently evaluated not reviewed unknown Array 228 10758 0.0211935 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - ZFYVE19 Ser381Asn S381N not reviewed Insufficiently evaluated not reviewed unknown Array rs34516375 31 10266 0.00301968 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - SPINT1 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - JMJD7-PLA2G4B Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DUOX2 Gln1425Glu Q1425E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - DUOX1 Val558Asp V558D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - MYO5C Ala587Gly A587G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - TLN2 Glu2137Gln E2137Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35997243 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AX747619 Ser253Pro S253P not reviewed Insufficiently evaluated not reviewed unknown Array rs73431508 11 98 0.112245 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - APH1B Val199Leu V199L not reviewed Insufficiently evaluated not reviewed unknown Array rs61751105 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.636 - - 0 - 1 N - - ZNF609 Lys948Del K948Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C15ORF59 Pro121Leu P121L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHRNB4 Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56095004 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - ADAMTS7 Pro1096Thr P1096T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10720 0.00541045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMED3 Asp86Asn D86N not reviewed Insufficiently evaluated not reviewed unknown Array rs3784543 12 10758 0.00111545 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - C15ORF37 Pro11Ser P11S not reviewed Insufficiently evaluated not reviewed unknown Array 132 9860 0.0133874 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTSL3 Glu893Lys E893K not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - ACAN Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA4B Ala538Thr A538T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10220 9.7847e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRTC3 Trp229Gly W229G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SYNM Arg945Trp R945W not reviewed Insufficiently evaluated not reviewed unknown Array rs5030694 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM Val1468Ile V1468I not reviewed Insufficiently evaluated not reviewed unknown Array rs35238587 87 10264 0.00847623 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAB11FIP3 Ala658Thr A658T not reviewed Insufficiently evaluated not reviewed unknown Array rs72767836 35 10234 0.00341997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF11 Arg17Gln R17Q not reviewed Insufficiently evaluated not reviewed unknown Array 134 10090 0.0132805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSTR5 Leu48Met L48M not reviewed Insufficiently evaluated not reviewed unknown Array rs4988483 410 10672 0.0384183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - GLIS2 Val169Met V169M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - POLR3E Thr275Met T275M not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - PHKB Asp134Asn D134N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - -1 - 3 N - - ABCC11 Met970Val M970V not reviewed Insufficiently evaluated not reviewed unknown Array rs41280943 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ADCY7 Arg175Trp R175W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - CHD9 Lys1738Arg K1738R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754093 54 9506 0.00568062 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - -3 - 0 N - - PDPR Arg426Cys R426C not reviewed Insufficiently evaluated not reviewed unknown Array 3 90 0.0333333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAD2 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAD2 Thr563Ile T563I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1609 Asn52Asp N52D not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLHL36 Ala341Thr A341T not reviewed Insufficiently evaluated not reviewed unknown Array 49 10712 0.00457431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - MVD Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACSF3 Arg469Gln R469Q not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF7 Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10132 0.00424398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPIRE2 Ser508Leu S508L not reviewed Insufficiently evaluated not reviewed unknown Array 250 10696 0.0233732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - SMG6 Asn575Ser N575S not reviewed Insufficiently evaluated not reviewed unknown Array rs34047637 394 10758 0.0366239 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.386 - - 0 - 1 N - - TRPV1 Thr612Met T612M not reviewed Insufficiently evaluated not reviewed unknown Array 18 9792 0.00183823 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYBBP1A Met1208Leu M1208L not reviewed Insufficiently evaluated not reviewed unknown Array rs9905742 310 10756 0.0288211 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.063 - - -3 - 0 N - - MYBBP1A Phe35Leu F35L not reviewed Insufficiently evaluated not reviewed unknown Array 216 10746 0.0201005 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PLD2 Leu929Arg L929R not reviewed Insufficiently evaluated not reviewed unknown Array rs61759530 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 1 N - - HES7 Pro149Ala P149A not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.679 - Y 2 - 2 N - - MYH13 Gly516Arg G516R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - FAM18B2 Cys189Trp C189W not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ALDH3A1 Gly300Asp G300D not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KSR1 Gln410His Q410H not reviewed Insufficiently evaluated not reviewed unknown Array rs55646895 173 10110 0.0171118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TIAF1 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCT6B Stop531Leu X531L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAF15 Gly52Ser G52S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C17ORF66 Gly229Val G229V not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRT32 Pro427Ile P427I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC18A1 Tyr285Cys Y285C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HOXB9 Val87Phe V87F not reviewed Insufficiently evaluated not reviewed unknown Array 9 9412 0.000956226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.799 - - 3 - 1 N - - HOXB9 Ile82Met I82M not reviewed Insufficiently evaluated not reviewed unknown Array rs56409817 8 9644 0.000829531 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.694 - - -1 - 1 N - - EPN3 Arg170His R170H not reviewed Insufficiently evaluated not reviewed unknown Array 318 10412 0.0305417 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 2 N - - TBX2 Pro667Leu P667L not reviewed Insufficiently evaluated not reviewed unknown Array rs61751978 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNH6 Tyr54Cys Y54C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - GALR2 Trp249Leu W249L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745847 66 10754 0.00613725 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - RHBDF2 Asp528Tyr D528Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11553545 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - TMC8 Arg280His R280H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BC008248 Leu48Phe L48F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF213 Leu2722Val L2722V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745599 787 10758 0.0731549 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AATK Pro1192Ser P1192S not reviewed Insufficiently evaluated not reviewed unknown Array rs55856613 122 10628 0.0114791 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 3 - 0 N - - RNMT Ala20Pro A20P not reviewed Insufficiently evaluated not reviewed unknown Array rs61730997 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - ZNF519 Ile257Val I257V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730995 61 10750 0.00567442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - KIAA1632 Ser1083Leu S1083L not reviewed Insufficiently evaluated not reviewed unknown Array 194 10156 0.019102 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ST8SIA5 Val264Met V264M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO5B Met1688Val M1688V not reviewed Insufficiently evaluated not reviewed unknown Array 220 10130 0.0217177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC68 Asp151Gly D151G not reviewed Insufficiently evaluated not reviewed unknown Array 501 10758 0.04657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 4 Y 0 N - - ALPK2 Thr397Ile T397I not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 3 - 2 N - - LMAN1 Leu16Met L16M not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - -3 - 1 N - - TNFRSF11A Ala244Gly A244G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.04 Y - 1 - 1 N - - GZMM AlaLeuGlyAlaLeuSer12Del ALGALS12Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GRIN3B Ala832Glu A832E not reviewed Insufficiently evaluated not reviewed unknown Array 119 10754 0.0110656 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - PLIN4 Gly428Ser G428S not reviewed Insufficiently evaluated not reviewed unknown Array 137 10088 0.0135805 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.814 - - 2 - 1 N - - KANK3 Leu46Met L46M not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - MUC16 ThrAla12693LysPro TA12693KP not reviewed Insufficiently evaluated not reviewed unknown Array 3 114 0.0263158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL5A3 Val1195Ala V1195A not reviewed Insufficiently evaluated not reviewed unknown Array rs62638750 88 10754 0.008183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 2 - 1 N - - ANGPTL6 Arg439Gln R439Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45600037 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CD97 Thr59Met T59M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.039 - - 2 - 0 N - - CCDC105 Leu227Val L227V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKLE1 Ala341Thr A341T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APLP1 Val437Met V437M not reviewed Insufficiently evaluated not reviewed unknown Array rs35358477 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ZNF546 Ser577Arg S577R not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - ZNF780B Thr687Ile T687I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF780B Val678Gly V678G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF780B Glu415Gln E415Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF780B Asp410Gly D410G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF780A Ala606Pro A606P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF780A Val54Ala V54A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - CEACAM6 Thr100Ile T100I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LIPE Gly742Arg G742R not reviewed Insufficiently evaluated not reviewed unknown Array rs45603141 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CEACAM1 Pro237Leu P237L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - 7 Y 1 N - - GIPR Ala207Val A207V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800436 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CARD8 Gln356Arg Q356R not reviewed Insufficiently evaluated not reviewed unknown Array rs34632751 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - BCAT2 Gln100Glu Q100E not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.28 Y - -2 - 2 N - - POLD1 Ala66Gly A66G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF432 Ile495Val I495V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIR3DX1 Ile152Val I152V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF772 Arg305His R305H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - NBAS Asp365His D365H not reviewed Insufficiently evaluated not reviewed unknown Array 103 10756 0.00957605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - APOB Ser2429Thr S2429T not reviewed Insufficiently evaluated not reviewed unknown Array rs72653092 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FAM179A Pro311Ala P311A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10492 0.00104842 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - 2 - 1 N - - SRD5A2 Ala48Thr A48T not reviewed Insufficiently evaluated not reviewed unknown Array rs9282858 228 9704 0.0234955 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - LTBP1 Pro803Ala P803A not reviewed Insufficiently evaluated not reviewed unknown Array rs61754245 158 10756 0.0146895 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP1 Pro1010Gln P1010Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2290427 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASB3 Leu30Val L30V not reviewed Insufficiently evaluated not reviewed unknown Array rs36020289 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - USP34 Arg508Ser R508S not reviewed Insufficiently evaluated not reviewed unknown Array rs62623573 70 9568 0.00731605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP68 Thr142Del T142Del not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NAT8B Arg7Cys R7C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10640 0.00451128 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TET3 Thr411Ile T411I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10538 0.00104384 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - REG1B Arg44Leu R44L not reviewed Insufficiently evaluated not reviewed unknown Array rs62640882 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.046 - - 6 Y 0 N - - RETSAT Gly579Ser G579S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 2 - 1 N - - SLC20A1 Lys145Arg K145R not reviewed Insufficiently evaluated not reviewed unknown Array rs41279744 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AK127124 Val28Leu V28L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR4A2 Met97Val M97V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.303 - Y 0 - 2 N - - LRP2 Arg2012Lys R2012K not reviewed Insufficiently evaluated not reviewed unknown Array rs4667596 153 10758 0.014222 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.011 - Y -3 - 1 N - - TTN Ala5710Val A5710V not reviewed Insufficiently evaluated not reviewed unknown Array rs17355446 148 9974 0.0148386 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DNAJC10 Met517Leu M517L not reviewed Insufficiently evaluated not reviewed unknown Array rs61748254 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -3 - 2 N - - MFSD6 Arg164Cys R164C not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - DNAH7 Arg3983Trp R3983W not reviewed Insufficiently evaluated not reviewed unknown Array 72 9814 0.00733646 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - DNAH7 Met879Ile M879I not reviewed Insufficiently evaluated not reviewed unknown Array 265 9676 0.0273874 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.167 - - -1 - 0 N - - MAP2 Arg1251Cys R1251C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNS1 Asn102His N102H not reviewed Insufficiently evaluated not reviewed unknown Array rs61745748 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WNT6 Arg46Gln R46Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - DNPEP Leu230Val L230V not reviewed Insufficiently evaluated not reviewed unknown Array 114 10180 0.0111984 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM124B Leu436Phe L436F not reviewed Insufficiently evaluated not reviewed unknown Array rs61732371 174 3234 0.0538033 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.121 - - 0 - 0 N - - IRS1 Ser892Gly S892G not reviewed Insufficiently evaluated not reviewed unknown Array rs1801277 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - ALPP Glu530Gly E530G not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NGEF Asp397Asn D397N not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - -1 - 2 N - - RAB17 Lys164Arg K164R not reviewed Insufficiently evaluated not reviewed unknown Array rs41270747 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -3 - 0 N - - ESPNL Ser129Leu S129L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10716 0.000279955 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - KIF16B Arg803Trp R803W not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - RIN2 Gly29Arg G29R not reviewed Insufficiently evaluated not reviewed unknown Array 78 9990 0.00780781 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - FOXA2 Ser59Asn S59N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10640 9.3984e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GZF1 Asn510His N510H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - REM1 Glu209Gly E209G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 6 Y 0 N - - ZNF341 Pro185Ser P185S not reviewed Insufficiently evaluated not reviewed unknown Array rs45577437 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - DLGAP4 Arg757Cys R757C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SULF2 Arg281Gln R281Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - PTGIS Arg249Gln R249Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45571835 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - 0 - 1 N - - C20ORF151 Arg415Trp R415W not reviewed Insufficiently evaluated not reviewed unknown Array rs45565839 48 10522 0.00456187 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DIDO1 Ala1332Thr A1332T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZGPAT Gly433Arg G433R not reviewed Insufficiently evaluated not reviewed unknown Array rs17855481 2 10696 0.000186985 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TPTE Val242Ile V242I not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TFIP11 Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34764403 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - 0 - 1 N - - TPST2 Arg153His R153H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.338 - - 1 - 1 N - - MGAT3 Asp499His D499H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10736 0.00484352 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - SRGAP3 Asn201Ile N201I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 7 Y 0 N - - SGOL1 Arg518His R518H not reviewed Insufficiently evaluated not reviewed unknown Array 180 10756 0.0167348 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - LYZL4 Arg79His R79H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 1 - 2 N - - PTH1R Glu546Lys E546K not reviewed Insufficiently evaluated not reviewed unknown Array 195 10758 0.018126 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.033 - - 0 - 0 N - - BSN Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10686 0.00215235 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - GPR62 Ala308Thr A308T not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF14 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array 268 10758 0.0249117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCBLD2 Leu30Val L30V not reviewed Insufficiently evaluated not reviewed unknown Array 64 8460 0.00756501 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIDT1 Pro32Thr P32T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738949 425 10676 0.0398089 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HEG1 Ser207Arg S207R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALDH1L1 Gly23Asp G23D not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ZXDC Arg647Gln R647Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10124 0.00138285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TOPBP1 Gln714Arg Q714R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM194A Arg352Leu R352L not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - 6 Y 0 N - - IGSF10 Pro746Arg P746R not reviewed Insufficiently evaluated not reviewed unknown Array rs35667704 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 1 N - - EIF4G1 Arg1480Gln R1480Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - 0 - 1 N - - AK126656 Arg63Ser R63S not reviewed Insufficiently evaluated not reviewed unknown Array 66 3234 0.0204082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYL5 Glu123Gly E123G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - POLN Ser502Gly S502G not reviewed Insufficiently evaluated not reviewed unknown Array rs34574483 274 10758 0.0254694 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - ZCCHC4 Arg60Lys R60K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - -3 - 0 N - - RELL1 Arg267His R267H not reviewed Insufficiently evaluated not reviewed unknown Array 117 10302 0.011357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC30A9 Pro52Ser P52S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ATP10D Gln419His Q419H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - EPHA5 Ala672Thr A672T not reviewed Insufficiently evaluated not reviewed unknown Array rs36050417 232 10758 0.0215653 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.306 - - 1 - 1 N - - TMPRSS11F Ser175Del S175Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD56 Arg239Gly R239G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10068 0.000397298 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - ENOPH1 Leu69Arg L69R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.32 - - 6 Y 1 N - - ANK2 Arg3454Ser R3454S not reviewed Insufficiently evaluated not reviewed unknown Array rs55726422 1 10742 9.3092e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SEC24D Ala218Gly A218G not reviewed Insufficiently evaluated not reviewed unknown Array rs35392900 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - USP53 Pro617Ser P617S not reviewed Insufficiently evaluated not reviewed unknown Array 40 9538 0.00419375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FAT4 Ser3800Phe S3800F not reviewed Insufficiently evaluated not reviewed unknown Array 339 10758 0.0315114 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 1 N - - CLGN Pro270Ser P270S not reviewed Insufficiently evaluated not reviewed unknown Array rs114046582 184 10758 0.0171035 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - PRMT10 Ser831Gly S831G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - TDO2 Asn229His N229H not reviewed Insufficiently evaluated not reviewed unknown Array 384 10748 0.0357276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.851 - - 0 - 2 N - - FAM198B Ala315Val A315V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANP32C Tyr140His Y140H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.976 - - -1 - 2 N - - GLRA3 Pro120Ser P120S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - SLC9A3 Val567Met V567M not reviewed Insufficiently evaluated not reviewed unknown Array rs41282627 115 10758 0.0106897 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLPTM1L Arg230Cys R230C not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - MRPL36 Ser17Arg S17R not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.759 - - 3 - 1 N - - MRPS30 Ala102Val A102V not reviewed Insufficiently evaluated not reviewed unknown Array rs35601455 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 2 - 2 N - - PARP8 Ala199Asp A199D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - NM_173667 Ile40Leu I40L not reviewed Insufficiently evaluated not reviewed unknown Array 37 9856 0.00375406 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - CCDC125 Ile153Arg I153R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - RAD17 Thr34Ala T34A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM171 Pro323Leu P323L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - MSH3 Pro681Ser P681S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ACOT12 Val230Ile V230I not reviewed Insufficiently evaluated not reviewed unknown Array rs34607174 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - -4 - 0 N - - FAM174A Gly42Asp G42D not reviewed Insufficiently evaluated not reviewed unknown Array 48 10692 0.00448934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HSPA4 Thr649Ser T649S not reviewed Insufficiently evaluated not reviewed unknown Array rs61755723 49 10758 0.00455475 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHAC2 Pro897Arg P897R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - PCDHB1 Ala516Val A516V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHB9 Lys181Asn K181N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARAP3 Pro185His P185H not reviewed Insufficiently evaluated not reviewed unknown Array 266 10758 0.0247258 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - AFAP1L1 Arg84Gln R84Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734415 341 10758 0.0316973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GEMIN5 Arg904Gly R904G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.594 - - 6 Y 1 N - - RARS Arg576Trp R576W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - CDHR2 Ala721Val A721V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DBN1 Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYCP2L Glu574Lys E574K not reviewed Insufficiently evaluated not reviewed unknown Array 28 9446 0.00296422 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JARID2 Arg492Cys R492C not reviewed Insufficiently evaluated not reviewed unknown Array 113 10756 0.0105058 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - MRS2 Ile46Thr I46T not reviewed Insufficiently evaluated not reviewed unknown Array 295 10742 0.0274623 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CMAH Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array rs45568536 2 128 0.015625 2 0 2 1 1 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - This is a pseudogene; variants are of no consequence. HLA-A Ile322Val I322V not reviewed Insufficiently evaluated not reviewed unknown Array rs3180278 2 102 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MICB Gly291Ser G291S not reviewed Insufficiently evaluated not reviewed unknown Array rs41273040 137 7006 0.0195547 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4B Ser347Tyr S347Y not reviewed Insufficiently evaluated not reviewed unknown Array rs392610 6 26 0.230769 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PSMB8 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array 151 7518 0.0200851 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HLA-DPB1 Val169Ile V169I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - -4 - 0 N - - ZNF76 Arg403Gln R403Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35582935 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TBC1D22B Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CAPN11 Arg500Gly R500G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AARS2 Gly543Arg G543R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 2 N - - TDRD6 Val1872Leu V1872L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - COL19A1 Pro918Gln P918Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.839 - - 4 Y 1 N - - DOPEY1 Ala1794Thr A1794T not reviewed Insufficiently evaluated not reviewed unknown Array rs45490298 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - ZNF292 Asn1430Ser N1430S not reviewed Insufficiently evaluated not reviewed unknown Array rs6941356 755 9840 0.0767276 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LACE1 Glu201Lys E201K not reviewed Insufficiently evaluated not reviewed unknown Array 286 10758 0.0265849 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - HS3ST6 Ile312Met I312M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM26F Glu293Lys E293K not reviewed Insufficiently evaluated not reviewed unknown Array rs11544160 625 10758 0.0580963 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 1 N - - RSPH4A Glu701Gly E701G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - TAAR8 Pro288Ala P288A not reviewed Insufficiently evaluated not reviewed unknown Array rs41286166 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - AX747618 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRM1 Val929Ile V929I not reviewed Insufficiently evaluated not reviewed unknown Array rs2941 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RAET1L Glu173Lys E173K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - FNDC1 Gly596Ser G596S not reviewed Insufficiently evaluated not reviewed unknown Array 101 10130 0.00997038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - 2 - 1 N - - PNLDC1 Arg490Lys R490K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - LPA Pro1428Leu P1428L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10558 0.00435688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAP1 Arg110Trp R110W not reviewed Insufficiently evaluated not reviewed unknown Array 10 10744 0.000930752 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MICALL2 Gly583Arg G583R not reviewed Insufficiently evaluated not reviewed unknown Array 70 10748 0.00651284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - NM_001099942 Gly241Asp G241D not reviewed Insufficiently evaluated not reviewed unknown Array rs61742185 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SDK1 Ser619Leu S619L not reviewed Insufficiently evaluated not reviewed unknown Array rs36103726 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 6 Y 1 N - - DAGLB Asp638Gly D638G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SCIN Arg447Gln R447Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35385652 417 10152 0.0410757 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ISPD Ala136Val A136V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734789 253 9786 0.0258533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCB5 Gly18Ala G18A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUPL2 Gly349Asp G349D not reviewed Insufficiently evaluated not reviewed unknown Array rs61756129 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - FAM188B Cys465Tyr C465Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34970833 392 10040 0.0390438 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 6 Y 0 N - - BMPER Arg555Trp R555W not reviewed Insufficiently evaluated not reviewed unknown Array rs10249320 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ANLN Ala233Thr A233T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INHBA Cys314Tyr C314Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NACAD Leu12Val L12V not reviewed Insufficiently evaluated not reviewed unknown Array rs11760885 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - TNS3 Met1185Val M1185V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - ABCB1 Arg593His R593H not reviewed Insufficiently evaluated not reviewed unknown Array rs56107566 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R9A Ser1098Asn S1098N not reviewed Insufficiently evaluated not reviewed unknown Array rs61749905 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GJC3 Gly127Glu G127E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 6 Y 1 N - - MUC3A Thr279Ala T279A not reviewed Insufficiently evaluated not reviewed unknown Array 1433 4586 0.312473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC3A Tyr281His Y281H not reviewed Insufficiently evaluated not reviewed unknown Array rs73714257 1289 4586 0.281073 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC17 Val4413Phe V4413F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - SLC26A5 Asn330Ser N330S not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - MLL5 Gly999Cys G999C not reviewed Insufficiently evaluated not reviewed unknown Array 358 10758 0.0332776 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - HYAL4 Arg477Gln R477Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - POT1 Gly404Val G404V not reviewed Insufficiently evaluated not reviewed unknown Array rs35536751 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - POT1 Gln301His Q301H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10748 0.00307034 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.976 - - -1 - 2 N - - MGAM Asp1420Asn D1420N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - EPHB6 Ser309Ala S309A not reviewed Insufficiently evaluated not reviewed unknown Array rs8177146 6 128 0.046875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CNTNAP2 Cys9Ser C9S not reviewed Insufficiently evaluated not reviewed unknown Array 5 58 0.0862069 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - MYOM2 Glu81Lys E81K not reviewed Insufficiently evaluated not reviewed unknown Array rs35985218 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS55 Pro46Ala P46A not reviewed Insufficiently evaluated not reviewed unknown Array 613 10756 0.0569914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FGL1 Arg38Leu R38L not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.876 - - 6 Y 2 N - - FGL1 Phe5Ile F5I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745164 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - PCM1 Ile1698Leu I1698L not reviewed Insufficiently evaluated not reviewed unknown Array rs34243861 132 9494 0.0139035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.082 - - -2 - 0 N - - PDLIM2 Ala294Val A294V not reviewed Insufficiently evaluated not reviewed unknown Array rs73229817 435 10720 0.0405784 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYBL1 Gly197Glu G197E not reviewed Insufficiently evaluated not reviewed unknown Array 31 9574 0.00323794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATAD2 Asp270Asn D270N not reviewed Insufficiently evaluated not reviewed unknown Array 63 10756 0.00585719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - ZNF572 Lys317Thr K317T not reviewed Insufficiently evaluated not reviewed unknown Array rs10104558 264 10756 0.0245444 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFAT Arg546Trp R546W not reviewed Insufficiently evaluated not reviewed unknown Array 110 9716 0.0113215 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - SLC45A4 Asn562Ser N562S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDCD1LG2 Gln79Glu Q79E not reviewed Insufficiently evaluated not reviewed unknown Array rs56072800 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - KIAA2026 Pro1227Leu P1227L not reviewed Insufficiently evaluated not reviewed unknown Array rs41281757 1 10262 9.7446e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.964 - - 7 Y 2 N - - KIAA2026 Arg267Gln R267Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9392 0.000212947 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - DENND4C Ile5Leu I5L not reviewed Insufficiently evaluated not reviewed unknown Array rs41269019 212 9560 0.0221757 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - ACO1 Asp29Tyr D29Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41313772 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TOPORS Ser1002Asn S1002N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.158 Y - 0 - 1 N - - TOPORS Thr241Met T241M not reviewed Insufficiently evaluated not reviewed unknown Array rs41272913 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C9ORF131 Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM189A2 Pro173His P173H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRUNE2 Asn1423Lys N1423K not reviewed Insufficiently evaluated not reviewed unknown Array rs41288771 70 7820 0.00895141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13A Ser2167Asn S2167N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 - Y 0 - 3 N - - TLE4 Ser165Thr S165T not reviewed Insufficiently evaluated not reviewed unknown Array rs41307447 31 9916 0.00312626 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - RASEF Ser74Phe S74F not reviewed Insufficiently evaluated not reviewed unknown Array 72 9674 0.00744263 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - CDK20 Ser106Asn S106N not reviewed Insufficiently evaluated not reviewed unknown Array rs41286029 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - WNK2 Pro865Ser P865S not reviewed Insufficiently evaluated not reviewed unknown Array rs45534637 194 10734 0.0180734 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WNK2 Ser1355Leu S1355L not reviewed Insufficiently evaluated not reviewed unknown Array rs41296061 86 10648 0.00807663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALDOB Ala150Pro A150P not reviewed Insufficiently evaluated not reviewed unknown Array rs1800546 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - 2 - 1 N - - OR13D1 Leu76Phe L76F not reviewed Insufficiently evaluated not reviewed unknown Array rs56017313 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SVEP1 Ser3127Pro S3127P not reviewed Insufficiently evaluated not reviewed unknown Array rs41278435 346 10032 0.0344896 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - SVEP1 Thr1878Ile T1878I not reviewed Insufficiently evaluated not reviewed unknown Array 209 9516 0.021963 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.83 - - 3 - 1 N - - SVEP1 Asp693Glu D693E not reviewed Insufficiently evaluated not reviewed unknown Array rs41296069 562 9762 0.0575702 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - C9ORF43 Gly459Arg G459R not reviewed Insufficiently evaluated not reviewed unknown Array rs41276815 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RGS3 Pro847Ser P847S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - TLR4 Arg763His R763H not reviewed Insufficiently evaluated not reviewed unknown Array rs5030723 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 0 N - - OR1J2 Val9Met V9M not reviewed Insufficiently evaluated not reviewed unknown Array rs41277118 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1B1 Pro268Arg P268R not reviewed Insufficiently evaluated not reviewed unknown Array rs41316978 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - AL834139 Ile633Thr I633T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAMC3 Arg356His R356H not reviewed Insufficiently evaluated not reviewed unknown Array rs45505601 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF86 Gly509Arg G509R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10198 9.8058e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTPBP6 Gly196Arg G196R not reviewed Insufficiently evaluated not reviewed unknown Array 69 9720 0.00709877 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZBED1 Lys576Arg K576R not reviewed Insufficiently evaluated not reviewed unknown Array 1 93 0.0107527 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -3 - 2 N - - SH3KBP1 Ala345Thr A345T not reviewed Insufficiently evaluated not reviewed unknown Array rs41311799 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.574 - - 1 - 1 N - - FAM133A Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array rs34123774 308 8650 0.0356069 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - GPRASP2 Gln823Lys Q823K not reviewed Insufficiently evaluated not reviewed unknown Array rs41305435 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.674 - - -2 - 1 N - - GLUD2 Gly35Arg G35R not reviewed Insufficiently evaluated not reviewed unknown Array 636 7323 0.0868497 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - GPR112 Pro1341Leu P1341L not reviewed Insufficiently evaluated not reviewed unknown Array rs41310743 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAGEC1 Ser406Cys S406C not reviewed Insufficiently evaluated not reviewed unknown Array rs62611965 681 8754 0.077793 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAGEC1 Ile410Thr I410T not reviewed Insufficiently evaluated not reviewed unknown Array 677 8750 0.0773714 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PDZD4 Glu595Gly E595G not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.147 - - 6 Y 0 N - - C1ORF167 Gln400Stop Q400X not reviewed Insufficiently evaluated not reviewed unknown Array rs41275466 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOTCH2 Asp1306Asn D1306N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y -1 - 4 N - - FCGR1C Gly205Shift G205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 102 0.0588235 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FLG Asp3190Asn D3190N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.941 Y Y -1 - 4 N - - FLG Glu2074Gln E2074Q not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG Arg971His R971H not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG Thr581Ser T581S not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -2 - 2 N - - CDC73 Gly49Cys G49C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.903 Y Y 7 Y 4 N - - AKR1E2 Ile269Shift I269Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CUBN Pro1975Leu P1975L not reviewed Insufficiently evaluated not reviewed unknown Array rs41289303 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ERCC6 Ile188Shift I188Shift not reviewed High clinical importance, Uncertain not reviewed unknown Array 1 128 0.0078125 1 0 1 2 2 3 Y - - 0 Y - - 5 Y 1 Y Y - - - - Y Y 4 Y 4 N - - Predicts a severely disruptive frameshift in the ERCC6 gene, also known as CSB. No known reports exist for this variant, other disruptive variants are reported to cause Cockayne Syndrome B in a recessive manner. This severe disease is characterized by poor growth, progressive neurological dysfunction, and (in most cases) photosensitivity. Notably, there is also a report of a patient homozygous for a very disruptive variant early in the protein (R77X) who did not have Cockayne Syndrome, only a syndrome of UV-sensitivity (see Horibata 2004). not reviewed Insufficiently evaluated not reviewed unknown Array rs1548199 36 124 0.290323 11 0 14 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - BC156059 Gly755Stop G755X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC82 Glu303Stop E303X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TAS2R19 Trp295Stop W295X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLCO1B1 Arg580Stop R580X not reviewed Insufficiently evaluated not reviewed unknown Array rs71581941 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT86 Glu370Stop E370X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - KRT6A Leu210Met L210M not reviewed Insufficiently evaluated not reviewed unknown Array 109 10752 0.0101376 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.381 Y Y -3 - 3 N - - ATP6V0A2 Ala813Val A813V not reviewed Insufficiently evaluated not reviewed unknown Array rs17883456 263 10758 0.0244469 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 2 - 4 N - - MTUS2 Pro14Shift P14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DYNC1H1 Thr3350Shift T3350Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAQR5 Pro58Shift P58Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCAPER His228Shift H228Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA3 Leu316LeuPheLeu L316LFL not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - TOX3 Gln551Shift Q551Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ELMO3 Lys448Stop K448X not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF821 Lys179Shift K179Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZFHX3 Gly1820Shift G1820Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG7 Arg486Gln R486Q not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.103 Y Y 0 - 2 N - - RAI1 Arg842Trp R842W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 7 Y 4 N - - BRCA1 Asp693Asn D693N not reviewed Insufficiently evaluated not reviewed unknown Array rs4986850 572 10756 0.0531796 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -1 - 2 N - - SOST Val10Ile V10I not reviewed Insufficiently evaluated not reviewed unknown Array rs17882143 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -4 - 2 N - - SDK2 Glu1733Shift E1733Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF271 Ser231Shift S231Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35599671 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNDP1 Ala14Shift A14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP4F12 Ser139Shift S139Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ANO8 Ala993Shift A993Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs755123 2 116 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF43 Phe593Shift F593Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF43 Glu591Shift E591Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LILRB2 Arg139Shift R139Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LILRB2 Gly138Shift G138Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF154 Arg192Stop R192X not reviewed Insufficiently evaluated not reviewed unknown Array 105 10676 0.00983514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATAD2B Ser950Shift S950Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAPOLG Gln130Shift Q130Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RETSAT Phe134Shift F134Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNGA3 Pro48Leu P48L not reviewed Insufficiently evaluated not reviewed unknown Array rs62156348 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CRYGD Tyr56Stop Y56X not reviewed Insufficiently evaluated not reviewed unknown Array 27 10748 0.0025121 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 2 N - - RBM44 Glu193Shift E193Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RRBP1 Gln551Shift Q551Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SALL4 Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array rs45621331 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y 0 - 4 N - - COL6A1 Arg433Gln R433Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10730 0.00149115 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DNAJB7 Leu56Shift L56Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR5K3 Ile302Shift I302Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LXN Tyr76Shift Y76Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MUC20 Thr345Shift T345Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 112 0.0267857 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EVC Glu585Gly E585G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 6 Y 1 N - - CARD6 Leu30Shift L30Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCNO Ile219Shift I219Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR98 Ala2803Thr A2803T not reviewed Insufficiently evaluated not reviewed unknown Array 126 9948 0.0126659 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 1 - 4 N - - WDR36 Leu25Pro L25P not reviewed Insufficiently evaluated not reviewed unknown Array 92 10756 0.00855337 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SH3TC2 Val1158Ile V1158I not reviewed Insufficiently evaluated not reviewed unknown Array rs55853803 263 10758 0.0244469 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - DSP Ile2869Val I2869V not reviewed Insufficiently evaluated not reviewed unknown Array rs28763971 2 10758 0.000185908 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.106 Y Y -4 - 2 N - - PRICKLE4 Gln308Stop Q308X not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PKHD1 Ser3505Arg S3505R not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ROS1 Trp1101Stop W1101X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNE1 Asp4148His D4148H not reviewed Insufficiently evaluated not reviewed unknown Array 266 10758 0.0247258 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - HOXA13 Pro166Thr P166T not reviewed Insufficiently evaluated not reviewed unknown Array rs34398255 100 5596 0.0178699 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - GLI3 Arg1537Cys R1537C not reviewed Insufficiently evaluated not reviewed unknown Array rs35364414 444 10758 0.0412716 3 0 3 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 8 Y 4 N - - GLI3 Gly1336Glu G1336E not reviewed Insufficiently evaluated not reviewed unknown Array rs35280470 434 10756 0.0403496 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.965 Y Y 6 Y 4 N - - SBDS Ile212Thr I212T not reviewed Insufficiently evaluated not reviewed unknown Array 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 3 - 2 N - - VGF Glu353Shift E353Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASB15 Asp241Shift D241Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM67 Asp251Asn D251N not reviewed Insufficiently evaluated not reviewed unknown Array rs35793208 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - POP1 Thr752Shift T752Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DPYS Phe74Shift F74Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - VLDLR Arg613His R613H not reviewed Insufficiently evaluated not reviewed unknown Array rs35948251 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - GLDC Ile717Val I717V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - OR13J1 Leu285Shift L285Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCC Asp195Val D195V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800365 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - HCCS Glu233Lys E233K not reviewed Insufficiently evaluated not reviewed dominant Array 1 92 0.0108696 1 0 1 1 1 1 Y - - - - - - - - - - Y - - - 0.108 Y Y 0 - 2 N - - FAM133A Arg91Shift R91Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DVL1 Pro561Arg P561R not reviewed Insufficiently evaluated not reviewed unknown Array 74 9858 0.00750659 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1751 Arg218Gln R218Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.295 - - 0 - 1 N - - PRAMEF12 Leu235Ile L235I not reviewed Insufficiently evaluated not reviewed unknown Array rs41303871 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.238 - - -2 - 1 N - - PRAMEF2 Glu308Gly E308G not reviewed Insufficiently evaluated not reviewed unknown Array rs12139550 1279 10752 0.118955 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 0 N - - CROCC Ser602Arg S602R not reviewed Insufficiently evaluated not reviewed unknown Array rs45452999 80 10512 0.00761035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 0 N - - PADI1 Pro274Ser P274S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZBTB40 Ser223Arg S223R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FUCA1 Ala3Pro A3P not reviewed Insufficiently evaluated not reviewed unknown Array rs61996282 18 8498 0.00211815 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.134 Y - 2 - 1 N - - BAI2 Arg1179His R1179H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CSMD2 Arg1162His R1162H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - KIAA0319L Ser680Ala S680A not reviewed Insufficiently evaluated not reviewed unknown Array rs41267249 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - -1 - 1 N - - MRPS15 Thr252Ile T252I not reviewed Insufficiently evaluated not reviewed unknown Array rs35544556 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.11 - - 3 - 0 N - - HIVEP3 Val2015Met V2015M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTCH2 Ile577Ser I577S not reviewed Insufficiently evaluated not reviewed unknown Array rs41269091 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 5 Y 2 N - - CCDC17 Pro359Ser P359S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PODN Arg421His R421H not reviewed Insufficiently evaluated not reviewed unknown Array rs41302784 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDCP2 Thr434Met T434M not reviewed Insufficiently evaluated not reviewed unknown Array rs41294792 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK127270 Pro245Leu P245L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPAP2B Thr219Ser T219S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - LRRC40 Glu80Lys E80K not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - RPF1 Thr114Asn T114N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - GBP1 Glu166Asp E166D not reviewed Insufficiently evaluated not reviewed unknown Array rs17130717 255 10758 0.0237033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYT6 Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAN1A2 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737156 9 10746 0.00083752 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 1 - 0 N - - ANKRD35 Arg16Lys R16K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -3 - 0 N - - TCHH Gly222Ser G222S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCHH Arg220Thr R220T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HRNR Asp668Cys D668C not reviewed Insufficiently evaluated not reviewed unknown Array 7 122 0.057377 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - IL6R Leu379Phe L379F not reviewed Insufficiently evaluated not reviewed unknown Array rs28730735 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.115 - - 0 - 0 N - - ASH1L Ile1037Val I1037V not reviewed Insufficiently evaluated not reviewed unknown Array rs41313924 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - -4 - 0 N - - PYHIN1 Ser143Phe S143F not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 5 Y 1 N - - ARHGAP30 Val172Met V172M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - B4GALT3 Arg372His R372H not reviewed Insufficiently evaluated not reviewed unknown Array rs41270033 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - ADCY10 Thr1574Met T1574M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - C1ORF9 Ser783Arg S783R not reviewed Insufficiently evaluated not reviewed unknown Array rs41264548 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM163A Gly116Val G116V not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 8 Y 1 N - - KIAA1614 Arg301Cys R301C not reviewed Insufficiently evaluated not reviewed unknown Array rs79485039 207 10220 0.0202544 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - BC039493 Ser57Thr S57T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DHX9 Gly1211Ala G1211A not reviewed Insufficiently evaluated not reviewed unknown Array rs41272526 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM58B Ala196Val A196V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - PTPN7 Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - LEMD1 Pro25Ser P25S not reviewed Insufficiently evaluated not reviewed unknown Array rs7531012 569 10758 0.0528909 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.488 - - 3 - 0 N - - MIA3 Thr367Ser T367S not reviewed Insufficiently evaluated not reviewed unknown Array 93 9564 0.00972396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MIA3 Ile834Val I834V not reviewed Insufficiently evaluated not reviewed unknown Array 48 9580 0.00501044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - NUP133 Arg962His R962H not reviewed Insufficiently evaluated not reviewed unknown Array rs41307728 107 10758 0.00994609 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - TBCE Ala149Gly A149G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - CNST Gln288Arg Q288R not reviewed Insufficiently evaluated not reviewed unknown Array 140 10756 0.013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - SFMBT2 Gln701His Q701H not reviewed Insufficiently evaluated not reviewed unknown Array rs117946311 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - ITIH2 Val555Ala V555A not reviewed Insufficiently evaluated not reviewed unknown Array rs41290291 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAF3 Thr265Ala T265A not reviewed Insufficiently evaluated not reviewed unknown Array rs41290305 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - GPR158 Ser319Leu S319L not reviewed Insufficiently evaluated not reviewed unknown Array rs41279900 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 6 Y 2 N - - EPC1 Met287Ile M287I not reviewed Insufficiently evaluated not reviewed unknown Array rs72789797 531 10758 0.0493586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - -1 - 1 N - - CDK1 Arg180His R180H not reviewed Insufficiently evaluated not reviewed unknown Array rs45540532 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 1 - 2 N - - TET1 Ser701Asn S701N not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - ADAMTS14 Asn944Ser N944S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10744 0.000837676 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLG5 Glu624Gln E624Q not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - MYOF Phe1400Leu F1400L not reviewed Insufficiently evaluated not reviewed unknown Array rs41298243 8 9940 0.000804828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MMS19 Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array rs29001285 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - C10ORF28 Val543Leu V543L not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PYROXD2 Ala524Thr A524T not reviewed Insufficiently evaluated not reviewed unknown Array rs41290472 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 1 - 1 N - - ADAM8 Arg21Trp R21W not reviewed Insufficiently evaluated not reviewed unknown Array rs41283317 224 10134 0.0221038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRDD Arg652Trp R652W not reviewed Insufficiently evaluated not reviewed unknown Array 90 10676 0.00843012 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MUC6 Gly819Arg G819R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10062 9.9383e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC2 Arg1859Gln R1859Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41361144 756 10560 0.0715909 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MUC5AC Gly5288Ser G5288S not reviewed Insufficiently evaluated not reviewed unknown Array rs56217440 22 10300 0.00213592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM22 Arg442Cys R442C not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SYT9 Val154Met V154M not reviewed Insufficiently evaluated not reviewed unknown Array rs78477754 301 10758 0.0279792 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIC3 Asp311Asn D311N not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OTOG Gly1256Asp G1256D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDHX Val326Leu V326L not reviewed Insufficiently evaluated not reviewed unknown Array rs35560997 64 10744 0.00595681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.576 - - 0 - 1 N - - OR9G9 Asn64Lys N64K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - VPS37C His220Arg H220R not reviewed Insufficiently evaluated not reviewed unknown Array rs2232143 164 10732 0.0152814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 1 - 2 N - - AHNAK Val5440Met V5440M not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - GANAB Pro329Arg P329R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CR609936 Gly224Thr G224T not reviewed Insufficiently evaluated not reviewed unknown Array rs34340579 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NADSYN1 Asp312Val D312V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - KRTAP5-10 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array 322 10618 0.0303259 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYTL2 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs72947495 52 10752 0.00483631 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRM5 Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - APOA5 Arg204Cys R204C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - FXYD6 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS11 Arg289Gln R289Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TECTA Asp1136His D1136H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.871 Y - 3 - 3 N - - OR6T1 Ile36Thr I36T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR8D1 Phe102Val F102V not reviewed Insufficiently evaluated not reviewed unknown Array rs2510433 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.908 - - 3 - 2 N - - MRPL51 Leu117Phe L117F not reviewed Insufficiently evaluated not reviewed unknown Array rs11380 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - TAS2R19 Lys109Thr K109T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - GYS2 Cys81Ser C81S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.103 Y - 3 - 1 N - - PRPH Arg9Gln R9Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57451017 107 10726 0.00997576 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.753 - - 0 - 1 N - - ANKRD33 Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT84 Asp181Tyr D181Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - ZBTB39 Cys276Arg C276R not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - NTN4 Gly25Val G25V not reviewed Insufficiently evaluated not reviewed unknown Array rs34684875 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 8 Y 0 N - - ACTR6 Ile57Val I57V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - GAS2L3 Glu222Lys E222K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.265 - - 0 - 1 N - - GAS2L3 Asp223Asn D223N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.789 - - -1 - 1 N - - RPH3A Arg93His R93H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB35 Pro126Leu P126L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLE Glu2140Lys E2140K not reviewed Insufficiently evaluated not reviewed unknown Array rs5745066 148 10758 0.0137572 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - SKA3 Asp335Glu D335E not reviewed Insufficiently evaluated not reviewed unknown Array rs17279819 497 10758 0.0461982 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - ATP12A Asn454His N454H not reviewed Insufficiently evaluated not reviewed unknown Array rs56291145 309 10758 0.0287228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLT3 Asp324Asn D324N not reviewed Insufficiently evaluated not reviewed unknown Array rs35602083 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - N4BP2L2 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UGGT2 Asn1268Tyr N1268Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45473699 258 10722 0.0240627 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - AL833908 Thr113Met T113M not reviewed Insufficiently evaluated not reviewed unknown Array rs17507827 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4K17 Gln120Arg Q120R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733476 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD8 Ser1790Leu S1790L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBM23 Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array rs72681969 308 10258 0.0300253 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF31 Val573Leu V573L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10564 0.000189322 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - RALGAPA1 Ile1321Val I1321V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - -4 - 1 N - - MAP4K5 Tyr632Phe Y632F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9478 0.000105507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DLGAP5 IleLeu359Del IL359Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0586 Glu1109Lys E1109K not reviewed Insufficiently evaluated not reviewed unknown Array 21 9902 0.00212078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Pro2222Ala P2222A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.844 - - 2 - 1 N - - SYNE2 Gly6546Ser G6546S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBTB1 Ile430Val I430V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - -4 - 1 N - - PLEK2 Thr247Met T247M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C14ORF145 Arg16Leu R16L not reviewed Insufficiently evaluated not reviewed unknown Array rs7160694 533 10758 0.0495445 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLRT2 Val350Ile V350I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - EML5 Arg1649Trp R1649W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIP11 Ala128Ser A128S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINA13 Met280Lys M280K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BEGAIN Pro218Gln P218Q not reviewed Insufficiently evaluated not reviewed unknown Array 82 10750 0.00762791 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - TNFAIP2 Ser58Thr S58T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10466 0.00219759 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - -2 - 0 N - - AX747926 Ile41Asn I41N not reviewed Insufficiently evaluated not reviewed unknown Array rs393656 14 16 0.875 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAN1 Pro894Ser P894S not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - ARHGAP11A Ile884Val I884V not reviewed Insufficiently evaluated not reviewed unknown Array rs34173159 311 10758 0.0289087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AX747968 Gln86Arg Q86R not reviewed Insufficiently evaluated not reviewed unknown Array rs3207357 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF2AK4 Thr442Met T442M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - SPTBN5 Ala3312Val A3312V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10196 0.00500196 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53BP1 Glu1014Gly E1014G not reviewed Insufficiently evaluated not reviewed unknown Array rs45470395 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - HERC1 Arg2259His R2259H not reviewed Insufficiently evaluated not reviewed unknown Array 24 9656 0.0024855 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - MTFMT Phe58Ile F58I not reviewed Insufficiently evaluated not reviewed unknown Array 43 6098 0.00705149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - STRA6 Gly635Ser G635S not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC006530 Val37Asp V37D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RASGRF1 Val1029Leu V1029L not reviewed Insufficiently evaluated not reviewed unknown Array rs28603308 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1024 Asn258His N258H not reviewed Insufficiently evaluated not reviewed unknown Array rs79982509 414 10758 0.038483 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - ADAMTSL3 Asn1516Ile N1516I not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - AKAP13 Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - AGBL1 Tyr665Cys Y665C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10368 0.00549769 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.676 - - 6 Y 1 N - - NGRN Glu97Gln E97Q not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRC1 Ser144Thr S144T not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLCO3A1 Arg307Ser R307S not reviewed Insufficiently evaluated not reviewed unknown Array rs72655652 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CHTF18 Ile173Thr I173T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10254 0.0021455 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.109 - - 3 - 0 N - - AK056814 Ile240Thr I240T not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UNKL Gly250Ser G250S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNF Val714Met V714M not reviewed Insufficiently evaluated not reviewed unknown Array rs61755288 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - SLX4 Asn1834Ser N1834S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR597135 Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLR3E Arg113Cys R113C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 8 Y 1 N - - ATXN2L Val198Ile V198I not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.651 - - -4 - 1 N - - ITGAX Arg685Leu R685L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - BRD7 Phe49Leu F49L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 0 - 1 N - - NLRC5 Lys1326Asn K1326N not reviewed Insufficiently evaluated not reviewed unknown Array rs117950337 181 10756 0.0168278 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - GINS3 Ala86Pro A86P not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SETD6 Thr409Ile T409I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF70 Gly13Arg G13R not reviewed Insufficiently evaluated not reviewed unknown Array rs115599330 191 10444 0.018288 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AARS Arg751Gly R751G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PMFBP1 Arg381Leu R381L not reviewed Insufficiently evaluated not reviewed unknown Array rs35781168 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - MLKL Met150Arg M150R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 4 Y 0 N - - HSD17B2 Met226Val M226V not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.653 - - 0 - 1 N - - FAM38A Val426Met V426M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF55 Ser45Leu S45L not reviewed Insufficiently evaluated not reviewed unknown Array rs13329897 161 10756 0.0149684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AF329694 Gly75Asp G75D not reviewed Insufficiently evaluated not reviewed unknown Array rs45456401 171 3234 0.0528757 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GEMIN4 Thr529Ser T529S not reviewed Insufficiently evaluated not reviewed unknown Array rs35172207 20 9944 0.00201126 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZZEF1 His1951Tyr H1951Y not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKFY1 Ile375Val I375V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10192 0.00461146 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZFP3 His36Arg H36R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.452 - - 1 - 1 N - - ZNF286A Thr489Ser T489S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10702 0.00018688 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.136 - - -2 - 0 N - - KIAA0100 Thr1508Ala T1508A not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUPT6H Met1346Leu M1346L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.642 - - -3 - 1 N - - PHF12 Ser630Arg S630R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - SEZ6 Arg523His R523H not reviewed Insufficiently evaluated not reviewed unknown Array 77 9942 0.00774492 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SSH2 Gly1398Ser G1398S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737980 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - GPR179 Thr478Met T478M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - CDC6 Asp295Asn D295N not reviewed Insufficiently evaluated not reviewed unknown Array rs4135012 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.272 - - -1 - 1 N - - KRT40 Arg108His R108H not reviewed Insufficiently evaluated not reviewed unknown Array 82 10746 0.00763075 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KRTAP1-3 Gln77Glu Q77E not reviewed Insufficiently evaluated not reviewed unknown Array 6 66 0.0909091 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - KRT19 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNTNAP1 Arg526Gln R526Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - IFI35 Arg71Trp R71W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIAA1267 Leu703Phe L703F not reviewed Insufficiently evaluated not reviewed unknown Array rs34101027 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B4GALNT2 Arg183His R183H not reviewed Insufficiently evaluated not reviewed unknown Array rs34942161 81 10756 0.00753068 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 2 N - - MYCBPAP Val939Ile V939I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -4 - 0 N - - AX746971 Gly77Arg G77R not reviewed Insufficiently evaluated not reviewed unknown Array 85 4586 0.0185347 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC032382 Leu74Val L74V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA9 Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10738 0.00111753 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SDK2 Thr407Ser T407S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPRC5C Pro163Ser P163S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIN2C Leu65Phe L65F not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - LLGL2 Arg944Cys R944C not reviewed Insufficiently evaluated not reviewed unknown Array 88 10750 0.00818605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - QRICH2 IleValGlnArgGlyLeuValGlnProGly630Del IVQRGLVQPG630Del not reviewed Insufficiently evaluated not reviewed unknown Array 11 90 0.122222 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ENGASE Arg124Gln R124Q not reviewed Insufficiently evaluated not reviewed unknown Array 213 9796 0.0217436 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.527 - - 0 - 1 N - - NM_173627 Val29Ile V29I not reviewed Insufficiently evaluated not reviewed unknown Array rs35549084 384 10136 0.0378848 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - BAHCC1 Leu1058Pro L1058P not reviewed Insufficiently evaluated not reviewed unknown Array 12 8986 0.00133541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHST9 Ser122Asn S122N not reviewed Insufficiently evaluated not reviewed unknown Array rs17694469 171 9696 0.0176361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C18ORF34 Val737Leu V737L not reviewed Insufficiently evaluated not reviewed unknown Array 118 10752 0.0109747 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELP2 Ser491Thr S491T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIAS2 Ile607Val I607V not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HDHD2 Glu51Gln E51Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - MYO5B Leu59Pro L59P not reviewed Insufficiently evaluated not reviewed unknown Array 154 9968 0.0154494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHLPP1 Arg1003His R1003H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10416 0.00048003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF516 Arg804Gly R804G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF126 Pro246Leu P246L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLIN4 Ala1027Val A1027V not reviewed Insufficiently evaluated not reviewed unknown Array 163 10520 0.0154943 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - MUC16 Arg10471Lys R10471K not reviewed Insufficiently evaluated not reviewed unknown Array 48 10256 0.00468019 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC16 Thr5980Asn T5980N not reviewed Insufficiently evaluated not reviewed unknown Array 85 9976 0.00852045 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR7D4 Ala279Asp A279D not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - S1PR2 Asn10Lys N10K not reviewed Insufficiently evaluated not reviewed unknown Array rs56357614 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - RASAL3 Arg594Cys R594C not reviewed Insufficiently evaluated not reviewed unknown Array rs56209154 130 10544 0.0123293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 8 Y 2 N - - CYP4F12 Arg255Cys R255C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10738 0.000931272 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.479 - - 8 Y 1 N - - LRRC25 Cys285Tyr C285Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34666550 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ZNF208 Ile329Thr I329T not reviewed Insufficiently evaluated not reviewed unknown Array 239 10004 0.0238904 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - KIAA0355 Leu717Pro L717P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRAMD1A Arg448Trp R448W not reviewed Insufficiently evaluated not reviewed unknown Array rs73038384 199 10720 0.0185634 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - ZNF780A Asp87Asn D87N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLD3 Val232Met V232M not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - HIPK4 Thr304Asn T304N not reviewed Insufficiently evaluated not reviewed unknown Array 82 10752 0.00762649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEACAM5 Gly678Arg G678R not reviewed Insufficiently evaluated not reviewed unknown Array rs11545767 275 10758 0.0255624 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - LIPE Ala194Val A194V not reviewed Insufficiently evaluated not reviewed unknown Array rs34996020 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF224 Arg61Gly R61G not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - ZNF234 Ile119Leu I119L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9944 0.00100563 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - QPCTL Thr364Met T364M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - PRKD2 Glu873Lys E873K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731796 8 10756 0.00074377 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.804 - - 0 - 1 N - - HRC Arg88Cys R88C not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 8 Y 2 N - - TRPM4 Asp561Ala D561A not reviewed Insufficiently evaluated not reviewed unknown Array rs56355369 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 5 Y 1 N - - SPIB His13Glu H13E not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF808 Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB5 Ile520Thr I520T not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB2 Ser209Leu S209L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB2 Asn202Ser N202S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB2 Leu201Ser L201S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB2 Gly159Glu G159E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LILRB2 Glu158Gln E158Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -2 - 0 N - - LILRB2 Glu145Gly E145G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB2 Thr135Ala T135A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB2 Thr23Ala T23A not reviewed Insufficiently evaluated not reviewed unknown Array rs45557835 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB4 Arg347Gln R347Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.34 - - 0 - 1 N - - EPN1 Pro469Leu P469L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736521 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRP5 Glu100Asp E100D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10074 0.000297796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP5 Arg761Leu R761L not reviewed Insufficiently evaluated not reviewed unknown Array rs17713875 253 10196 0.0248137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF551 Thr650Ile T650I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PXDN Ala1064Thr A1064T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10720 0.00251866 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - C2ORF71 Ala648Thr A648T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10268 0.00915466 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTN4 Pro657Ser P657S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10748 0.000651283 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SEMA4F Pro381Leu P381L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ANKRD36B Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2463572 8 68 0.117647 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC9A2 Asp771Asn D771N not reviewed Insufficiently evaluated not reviewed unknown Array rs56156264 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - MRPS9 Gly336Arg G336R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001029996 Leu535Val L535V not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTNAP5 Val717Ala V717A not reviewed Insufficiently evaluated not reviewed unknown Array rs35085748 80 10266 0.00779271 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - 2 - 0 N - - PLA2R1 LeuAsn972IleAsp LN972ID not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KBTBD10 Ser3Phe S3F not reviewed Insufficiently evaluated not reviewed unknown Array rs28730867 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 5 Y 1 N - - HOXD8 Gln67His Q67H not reviewed Insufficiently evaluated not reviewed unknown Array 11 4272 0.00257491 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - -1 - 1 N - - HOXD8 Ala70Pro A70P not reviewed Insufficiently evaluated not reviewed unknown Array 24 4348 0.00551978 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF47 Leu290Ile L290I not reviewed Insufficiently evaluated not reviewed unknown Array rs2118548 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CXCR2 CysTrp263PheLeu CW263FL not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC11A1 Val443Ala V443A not reviewed Insufficiently evaluated not reviewed unknown Array rs17215556 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - USP37 Arg976His R976H not reviewed Insufficiently evaluated not reviewed unknown Array rs61752208 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP37 Pro518Ser P518S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF25 Glu388Gln E388Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - TTLL4 Arg707His R707H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 1 - 1 N - - CRYBA2 Pro7Ser P7S not reviewed Insufficiently evaluated not reviewed unknown Array 164 10216 0.0160532 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - ATG9A Val513Ile V513I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10210 0.000979431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - MOGAT1 Val142Leu V142L not reviewed Insufficiently evaluated not reviewed unknown Array 300 9918 0.030248 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGFG1 Asn300Ser N300S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SP100 Arg713Trp R713W not reviewed Insufficiently evaluated not reviewed unknown Array 22 10250 0.00214634 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GIGYF2 Thr188Ala T188A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 1 - 0 N - - TRMT6 Lys79Del K79Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ENTPD6 Gln18Lys Q18K not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -2 - 1 N - - XKR7 Tyr563Gly Y563G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BPIL3 Ala342Thr A342T not reviewed Insufficiently evaluated not reviewed unknown Array rs45495506 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.128 - - 1 - 0 N - - ZNF341 Asn540Ser N540S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RALY Gly251Ser G251S not reviewed Insufficiently evaluated not reviewed unknown Array rs2281209 399 10432 0.0382477 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DSN1 Ile10Thr I10T not reviewed Insufficiently evaluated not reviewed unknown Array rs41307191 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SGK3 Pro84Thr P84T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 4 Y 2 N - - TP53RK Arg123Gln R123Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34983477 345 10756 0.0320751 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.822 - - 0 - 1 N - - ZNFX1 Arg447Gln R447Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - BC014150 Glu40Lys E40K not reviewed Insufficiently evaluated not reviewed unknown Array 7 106 0.0660377 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - IFNAR2 Thr204Arg T204R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - IFNGR2 Ile156Leu I156L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.137 Y - -2 - 1 N - - ITSN1 Ala994Ser A994S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HMGN1 Arg40Gln R40Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61751210 102 10756 0.00948308 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-8 Val132Leu V132L not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-12 Gln133Pro Q133P not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCNT Gly1452Arg G1452R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.707 - - 6 Y 1 N - - CLTCL1 Arg1619His R1619H not reviewed Insufficiently evaluated not reviewed unknown Array rs5748024 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLTCL1 Val1591Met V1591M not reviewed Insufficiently evaluated not reviewed unknown Array rs2073738 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Lys205Arg K205R not reviewed Insufficiently evaluated not reviewed unknown Array rs5746697 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CLTCL1 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array rs3747059 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC054862 Gln78Arg Q78R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CRYBB2 Arg145Trp R145W not reviewed Insufficiently evaluated not reviewed unknown Array rs2330991 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 2 N - - CRYBB2 Gln147Arg Q147R not reviewed Insufficiently evaluated not reviewed unknown Array rs2330992 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - CRYBB2 Thr150Met T150M not reviewed Insufficiently evaluated not reviewed unknown Array rs4049504 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - CRYBA4 Val36Met V36M not reviewed Insufficiently evaluated not reviewed unknown Array rs35520672 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.235 - - 0 - 1 N - - MTMR3 Leu779Phe L779F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737780 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - HORMAD2 Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array rs34150968 83 9650 0.00860104 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 1 - 1 N - - MORC2 Glu828Lys E828K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYN3 Arg554Pro R554P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TXN2 Gly41Cys G41C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CSF2RB Pro603Thr P603T not reviewed Insufficiently evaluated not reviewed unknown Array rs1801122 274 10404 0.026336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - TRIOBP Arg1078His R1078H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 1 - 3 N - - AK056490 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IQSEC1 Val882Ile V882I not reviewed Insufficiently evaluated not reviewed unknown Array rs17541405 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TBC1D5 Leu95Phe L95F not reviewed Insufficiently evaluated not reviewed unknown Array rs34457748 35 10624 0.00329443 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CTNNB1 Arg710His R710H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CCDC13 Gly510Asp G510D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 4 Y 2 N - - CDCP1 Thr667Ile T667I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 3 - 1 N - - ARIH2 Glu29Asp E29D not reviewed Insufficiently evaluated not reviewed unknown Array rs34221642 422 10758 0.0392266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BSN His1842Arg H1842R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - C3ORF63 Val257Ile V257I not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SHQ1 Thr559Pro T559P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 0 N - - SHQ1 Phe72Cys F72C not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 4 Y 1 N - - ROBO2 Thr1085Met T1085M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 2 - 3 N - - CHST13 Ser50Arg S50R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - PPP2R3A Pro481Ala P481A not reviewed Insufficiently evaluated not reviewed unknown Array rs34901937 622 10674 0.0582724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLSCR4 Met286Thr M286T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGSF10 Arg156Leu R156L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MME Met8Val M8V not reviewed Insufficiently evaluated not reviewed unknown Array rs61762319 213 10758 0.0197992 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - LEKR1 Leu64Pro L64P not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC31 Leu378Phe L378F not reviewed Insufficiently evaluated not reviewed unknown Array rs35923425 565 9662 0.0584765 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 1 N - - MFN1 Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 10754 0.00241771 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - BC001200 Ala149Thr A149T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744881 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS8 Ser1375Cys S1375C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN7 Ile196Val I196V not reviewed Insufficiently evaluated not reviewed unknown Array rs61742253 33 9660 0.00341615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - -4 - 0 N - - POLN Gln121His Q121H not reviewed Insufficiently evaluated not reviewed unknown Array rs2353552 986 10742 0.0917892 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 1 N - - RGS12 Ala797Val A797V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - 2 - 1 N - - ZBTB49 Pro627Ala P627A not reviewed Insufficiently evaluated not reviewed unknown Array rs34623124 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EVC Met855Val M855V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 0 - 3 N - - TLR10 Lys96Arg K96R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RFC1 Ser18Asn S18N not reviewed Insufficiently evaluated not reviewed unknown Array rs61759896 24 10744 0.0022338 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP10D Gly760Glu G760E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - CNGA1 Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - LRRC66 Phe846Ile F846I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9740 0.000102669 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - LPHN3 Leu928Val L928V not reviewed Insufficiently evaluated not reviewed unknown Array rs12509110 93 10270 0.0090555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS11A Lys48Arg K48R not reviewed Insufficiently evaluated not reviewed unknown Array 144 10756 0.0133879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SDAD1 Gly620Ala G620A not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TMEM150C Val213Met V213M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9902 0.000100989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM175A Thr141Ile T141I not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TIGD2 Ala480Val A480V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDLIM5 Lys22Arg K22R not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CENPE Arg967Gln R967Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10726 9.3231e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - MAD2L1 Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array rs61752608 47 10756 0.00436965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - LRBA Phe1531Val F1531V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF175 Ala66Val A66V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10420 0.00259117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 2 - 1 N - - WDR17 Asn465Ser N465S not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ODZ1 Arg2228Cys R2228C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1430 Thr48Lys T48K not reviewed Insufficiently evaluated not reviewed unknown Array 181 9504 0.0190446 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - SLC12A7 Met774Thr M774T not reviewed Insufficiently evaluated not reviewed unknown Array rs56350427 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC113534 Arg13His R13H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITGA2 Ile173Val I173V not reviewed Insufficiently evaluated not reviewed unknown Array rs55973669 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - MOCS2 His123Tyr H123Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2233218 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - -1 - 3 N - - CDC20B Leu234Val L234V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - IL6ST Val499Ile V499I not reviewed Insufficiently evaluated not reviewed unknown Array rs34417936 232 10758 0.0215653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IPO11 Asn260Asp N260D not reviewed Insufficiently evaluated not reviewed unknown Array rs35107530 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - AP3B1 Phe887Leu F887L not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - CMYA5 Gln1648Arg Q1648R not reviewed Insufficiently evaluated not reviewed unknown Array 57 9592 0.00594245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - 0 - 0 N - - NR_004845 Tyr206Ser Y206S not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AP3S1 Ser183Asn S183N not reviewed Insufficiently evaluated not reviewed unknown Array rs3803703 70 10756 0.006508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDHR2 Arg946Trp R946W not reviewed Insufficiently evaluated not reviewed unknown Array 73 10756 0.00678691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UIMC1 Tyr564His Y564H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - RREB1 Glu1497Lys E1497K not reviewed Insufficiently evaluated not reviewed unknown Array 3 9892 0.000303275 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM38 Tyr197Cys Y197C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - TRIM40 Tyr114Cys Y114C not reviewed Insufficiently evaluated not reviewed unknown Array rs28780086 108 7520 0.0143617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MICA Gln114Arg Q114R not reviewed Insufficiently evaluated not reviewed unknown Array rs41558312 107 3234 0.033086 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MICB Thr212Ile T212I not reviewed Insufficiently evaluated not reviewed unknown Array rs41293883 218 7036 0.0309835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNXB Val2602Met V2602M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - KCNK5 Lys365Ile K365I not reviewed Insufficiently evaluated not reviewed unknown Array rs41273124 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 6 Y 2 N - - DAAM2 Lys936Glu K936E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAF8 Gly264Arg G264R not reviewed Insufficiently evaluated not reviewed unknown Array 31 9824 0.00315554 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - ZNF318 Arg1034Cys R1034C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR110 Arg443Thr R443T not reviewed Insufficiently evaluated not reviewed unknown Array rs45626237 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Ile2010Val I2010V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HACE1 Asp399Gly D399G not reviewed Insufficiently evaluated not reviewed unknown Array rs34365906 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 4 Y 0 N - - AK094715 Gly27Arg G27R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 6 Y 1 N - - BC107113 Ser147Leu S147L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - RSPH4A Val497Ile V497I not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 - Y -4 - 1 N - - AKAP7 Glu312Lys E312K not reviewed Insufficiently evaluated not reviewed unknown Array rs34796711 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 0 - 1 N - - TXLNB Gln264His Q264H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - FBXO30 Ser321Leu S321L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - C6ORF103 Arg1109Gln R1109Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R14C Pro160Leu P160L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - IPCEF1 Pro247Arg P247R not reviewed Insufficiently evaluated not reviewed unknown Array rs41292900 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - PLG Arg523Trp R523W not reviewed Insufficiently evaluated not reviewed unknown Array rs4252129 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - TMEM184A Arg405Trp R405W not reviewed Insufficiently evaluated not reviewed unknown Array 2 9670 0.000206825 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - TMEM184A Gly39Glu G39E not reviewed Insufficiently evaluated not reviewed unknown Array 71 9864 0.00719789 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - TNRC18 Pro2358Arg P2358R not reviewed Insufficiently evaluated not reviewed unknown Array 52 7638 0.00680806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK308991 Val141Leu V141L not reviewed Insufficiently evaluated not reviewed unknown Array 135 3234 0.041744 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAX1BP1 Leu307Ile L307I not reviewed Insufficiently evaluated not reviewed unknown Array rs11540483 915 10758 0.085053 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - FKBP9 Phe71Cys F71C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10536 9.4912e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ANLN Ser72Phe S72F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - VPS41 Glu689Lys E689K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZMIZ2 Arg702His R702H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - AKAP9 Ser1376Thr S1376T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARPC1B Met350Arg M350R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.263 - - 4 Y 1 N - - RASA4 His533Arg H533R not reviewed Insufficiently evaluated not reviewed unknown Array rs11547193 3 10 0.3 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - RELN Ser600Phe S600F not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 5 Y 2 N - - LAMB1 Arg642Gly R642G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.457 - - 6 Y 1 N - - LAMB4 Arg117Thr R117T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - MET Asn375Ser N375S not reviewed Insufficiently evaluated not reviewed unknown Array rs33917957 136 9846 0.0138127 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - 0 - 1 N - - SND1 Gly615Ser G615S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PRRT4 Pro783Leu P783L not reviewed Insufficiently evaluated not reviewed unknown Array 29 2722 0.0106539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CALD1 Lys522Arg K522R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10666 0.000562535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF467 Val475Ile V475I not reviewed Insufficiently evaluated not reviewed unknown Array 17 7968 0.00213353 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -4 - 0 N - - TMEM176A Arg109Trp R109W not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PAXIP1 Thr649Ser T649S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC7A2 Ser269Pro S269P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSGALNACT1 Arg519Pro R519P not reviewed Insufficiently evaluated not reviewed unknown Array rs61910741 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BMP1 Gly712Ser G712S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - LOXL2 Cys265Phe C265F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - GPR124 Val534Met V534M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM18 Thr568Ala T568A not reviewed Insufficiently evaluated not reviewed unknown Array rs35980210 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PRKDC Arg2898Cys R2898C not reviewed Insufficiently evaluated not reviewed unknown Array rs4278157 344 10220 0.0336595 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFHX4 Glu393Gln E393Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 9656 0.00289975 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - CDH17 Val230Leu V230L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - C8ORF47 Ser100Phe S100F not reviewed Insufficiently evaluated not reviewed unknown Array rs34144950 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ODF1 Asn219Ser N219S not reviewed Insufficiently evaluated not reviewed unknown Array rs62523271 1094 10596 0.103247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CSMD3 Ala1729Val A1729V not reviewed Insufficiently evaluated not reviewed unknown Array rs61754527 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.381 - - 2 - 1 N - - SQLE Asn313Tyr N313Y not reviewed Insufficiently evaluated not reviewed unknown Array 113 9454 0.0119526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASAP1 Pro956Leu P956L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ST3GAL1 Ala91Val A91V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - MAPK15 Leu424Pro L424P not reviewed Insufficiently evaluated not reviewed unknown Array rs35986760 141 9768 0.0144349 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK094577 Arg77Lys R77K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DOCK8 Glu169Lys E169K not reviewed Insufficiently evaluated not reviewed unknown Array rs11789099 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 1 N - - GLIS3 Pro364Ser P364S not reviewed Insufficiently evaluated not reviewed unknown Array 13 9914 0.00131128 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - TAF1L Lys986Gln K986Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - GRIN3A Arg480His R480H not reviewed Insufficiently evaluated not reviewed unknown Array rs34755188 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF6 Leu161Val L161V not reviewed Insufficiently evaluated not reviewed unknown Array rs41278363 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALM2-AKAP2 Arg1051His R1051H not reviewed Insufficiently evaluated not reviewed unknown Array rs72757010 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR1N1 AlaPro17ValSer AP17VS not reviewed Insufficiently evaluated not reviewed unknown Array rs10818708 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_013318 Glu1473Lys E1473K not reviewed Insufficiently evaluated not reviewed unknown Array 19 10530 0.00180437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARD9 Gly518Glu G518E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 6 Y 1 N - - PNPLA7 Val805Ile V805I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPP2R3B Gly568Arg G568R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10622 0.000941442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - MXRA5 Leu2191Phe L2191F not reviewed Insufficiently evaluated not reviewed unknown Array rs41308441 1 8707 0.00011485 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MXRA5 Pro827Arg P827R not reviewed Insufficiently evaluated not reviewed unknown Array rs41304689 31 8761 0.00353841 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - MAGEB2 Pro199Thr P199T not reviewed Insufficiently evaluated not reviewed unknown Array rs45513291 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - TRO Pro438Leu P438L not reviewed Insufficiently evaluated not reviewed unknown Array 8 8139 0.000982921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAGE2 Ser9Thr S9T not reviewed Insufficiently evaluated not reviewed unknown Array 44 8718 0.00504703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.841 - - -2 - 1 N - - FAAH2 Ala16Glu A16E not reviewed Insufficiently evaluated not reviewed unknown Array 4 8760 0.000456621 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HEPH Ala595Thr A595T not reviewed Insufficiently evaluated not reviewed unknown Array rs17216603 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.235 - - 1 - 1 N - - TEX13B Thr178Ile T178I not reviewed Insufficiently evaluated not reviewed unknown Array rs45492000 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 3 - 1 N - - COL4A6 Arg559Gln R559Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 8761 0.000684853 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGAG1 Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array rs41304450 66 8761 0.00753339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ENOX2 Arg370Cys R370C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MAP7D3 Arg608His R608H not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 1 - 1 N - - CNGA2 Thr422Ala T422A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - H6PD Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 Y Y 0 - 4 N - - FUCA1 Pro146Leu P146L not reviewed Insufficiently evaluated not reviewed unknown Array rs2228424 82 10758 0.00762223 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 7 Y 3 N - - MPL Pro2Leu P2L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - COL11A1 Ile314Val I314V not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - HSD3B2 Gly2Val G2V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 8 Y 3 N - - LY9 Trp473Stop W473X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PIGC Arg21Stop R21X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CFH Ile551Thr I551T not reviewed Insufficiently evaluated not reviewed unknown Array rs35453854 164 10758 0.0152445 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.957 Y Y 3 - 4 N - - CHIT1 Gly268Arg G268R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - USH2A Ser4772Phe S4772F not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.911 Y Y 5 Y 4 N - - LYST Asn1228Ser N1228S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 0 - 4 N - - ERCC6 Thr942Met T942M not reviewed Insufficiently evaluated not reviewed unknown Array rs2228525 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.099 Y Y 2 - 2 N - - AP3M1 Asp104Shift D104Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LDB3 Pro441Shift P441Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 28 0.0357143 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - MGMT Gly196Shift G196Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR6A2 Ser217Shift S217Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71946386 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SAA1 Lys108Shift K108Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1059571 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATM Ile124Val I124V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FAM186B Ile657Shift I657Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACVRL1 Arg145Gln R145Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - KRT84 Stop601Shift X601Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT5 Phe87Val F87V not reviewed Insufficiently evaluated not reviewed unknown Array rs61747188 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 3 - 2 N - - OR6C65 Met182Shift M182Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR6C76 Lys311Shift K311Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57387180 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP6V0A2 Glu257Lys E257K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.625 Y Y 0 - 3 N - - TPTE2 Phe76Shift F76Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 Val1675Ala V1675A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - RPGRIP1 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array 83 9492 0.00874421 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.976 Y Y 7 Y 4 N - - BAZ1A Ile355Shift I355Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs34379325 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs57484875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - SLC24A1 Ser332Shift S332Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCI Ile1060Thr I1060T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CRAMP1L Pro447Shift P447Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCC6 Arg724Lys R724K not reviewed Insufficiently evaluated not reviewed unknown Array rs58073789 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ZNF319 Ala188Shift A188Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COG8 Gln391His Q391H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - JPH3 Val199Met V199M not reviewed Insufficiently evaluated not reviewed unknown Array rs9934067 97 10756 0.00901822 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FANCA His227Gln H227Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y -1 - 4 N - - BC139719 Pro80Shift P80Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 86 0.0348837 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZZEF1 Gln2582Shift Q2582Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 100 0.03 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF594 Glu558Shift E558Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAPT Ala495Thr A495T not reviewed Insufficiently evaluated not reviewed unknown Array rs63750612 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - C17ORF57 Gly650Shift G650Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BRIP1 Glu1126Asp E1126D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -2 - 2 N - - SCN4A Met135Thr M135T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10536 0.00417616 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 2 - 4 N - - UNC13D Pro329Ser P329S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 3 - 2 N - - LAMA3 Ala346Thr A346T not reviewed Insufficiently evaluated not reviewed unknown Array 9 9854 0.000913334 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RAX Thr50Pro T50P not reviewed Insufficiently evaluated not reviewed unknown Array 64 7398 0.00865099 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ACSBG2 Lys259Shift K259Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR7G1 Tyr94Shift Y94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EMR2 Tyr133Shift Y133Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LGALS13 Leu74Shift L74Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRX Arg45Gly R45G not reviewed Insufficiently evaluated not reviewed unknown Array 66 10680 0.00617978 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - BCAM Leu394Shift L394Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - GREB1 Ala489Shift A489Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GEN1 Asn767Shift N767Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTOF Arg1026Trp R1026W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 7 Y 4 N - - DYSF Ala350Val A350V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 2 - 2 N - - DYSF Leu685Val L685V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 0 - 4 N - - ALMS1 Lys1810Asn K1810N not reviewed Insufficiently evaluated not reviewed unknown Array 97 9626 0.0100769 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALMS1 Pro2184Ser P2184S not reviewed Insufficiently evaluated not reviewed unknown Array 97 9654 0.0100476 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ALMS1 Ser3684Asn S3684N not reviewed Insufficiently evaluated not reviewed unknown Array rs11896293 223 9500 0.0234737 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val23326Ile V23326I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Thr5415Met T5415M not reviewed Insufficiently evaluated not reviewed unknown Array rs16866475 113 10298 0.010973 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ser181Asn S181N not reviewed Insufficiently evaluated not reviewed unknown Array rs72647843 232 10758 0.0215653 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL5A2 Pro983Ser P983S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10472 0.00038197 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OSGEPL1 Leu166Shift L166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BPIL3 Tyr434Stop Y434X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC014150 Asp94Shift D94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRDM15 Asn191Shift N191Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL6A1 Ala953Thr A953T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL6A2 Asp869Asn D869N not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y -1 - 2 N - - CU012959 Arg95Shift R95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMB2 Arg1592Trp R1592W not reviewed Insufficiently evaluated not reviewed unknown Array rs61729458 162 10758 0.0150586 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.725 Y - 7 Y 2 N - - SLC41A3 Ile402Shift I402Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCCB Cys517Shift C517Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PCCB Asp518Shift D518Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ATP13A3 Leu1114Shift L1114Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CC2D2A Lys1443Asn K1443N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALPK1 Trp595Stop W595X not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRAT Phe25Tyr F25Y not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.986 Y Y -4 - 4 N - - DNAH5 Lys3119Glu K3119E not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.968 Y Y 0 - 4 N - - DNAH5 Val2307Ile V2307I not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.952 Y Y -4 - 4 N - - DNAH5 Ile1658Thr I1658T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - DROSHA Lys214Shift K214Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RHOBTB3 Leu123Shift L123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZRSR1 Arg484Stop R484X not reviewed Insufficiently evaluated not reviewed unknown Array rs61747099 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NPY6R Pro31Shift P31Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDHB15 Pro449Shift P449Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDHGB8P Asp304Shift D304Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC126474 Trp119Stop W119X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATXN1 Arg403Cys R403C not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CFB Asp651Glu D651E not reviewed Insufficiently evaluated not reviewed unknown Array rs4151660 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - BTNL2 Val232Shift V232Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-DQA1 Met99Leu M99L not reviewed Insufficiently evaluated not reviewed unknown Array rs1064944 811 9466 0.085675 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 2 N - - MUT Pro104Ser P104S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - IL17A Arg69Stop R69X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PHF3 Asp86Shift D86Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RIMS1 Asn810Tyr N810Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 5 Y 3 N - - SYNE1 Met6566Ile M6566I not reviewed Insufficiently evaluated not reviewed unknown Array rs35654757 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y -1 - 4 N - - SYNE1 Met3847Ile M3847I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.468 Y Y -1 - 3 N - - HOXA9 Ser52Arg S52R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10164 0.000688705 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.807 Y Y 3 - 3 N - - GARS Ile162Thr I162T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.065 Y Y 3 - 2 N - - AX746881 Ser171Stop S171X not reviewed Insufficiently evaluated not reviewed unknown Array 5 60 0.0833333 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - PEX2 Ala245Thr A245T not reviewed Insufficiently evaluated not reviewed unknown Array 333 10758 0.0309537 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - NBN Thr497Ala T497A not reviewed Insufficiently evaluated not reviewed unknown Array rs3026268 86 10756 0.00799554 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.205 Y Y 1 - 3 N - - VPS13B Asp2595Asn D2595N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -1 - 2 N - - KCNQ3 Pro769His P769H not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 5 Y 3 N - - PRUNE2 Thr2091Shift T2091Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SETX Met650Val M650V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TSC1 Pro448Ser P448S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 3 - 2 N - - ARSE Ala35Thr A35T not reviewed Insufficiently evaluated not reviewed unknown Array 15 8761 0.00171213 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - OGT Ser903Shift S903Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DKC1 Gly486Arg G486R not reviewed Insufficiently evaluated not reviewed unknown Array 15 8757 0.00171292 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - IL9R Leu408Shift L408Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTLL10 Lys467Thr K467T not reviewed Insufficiently evaluated not reviewed unknown Array 229 10758 0.0212865 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATAD3B Thr292Met T292M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10744 0.00102383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.844 - - 2 - 1 N - - MORN1 Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 1 - 2 N - - TNFRSF14 Ala22Gly A22G not reviewed Insufficiently evaluated not reviewed unknown Array rs11573976 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MMEL1 Gly697Ser G697S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM16 Val997Ile V997I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC27 Lys110Glu K110E not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - NPHP4 Thr1225Met T1225M not reviewed Insufficiently evaluated not reviewed unknown Array 47 10492 0.0044796 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.178 Y - 2 - 1 N - - NPHP4 Asp753Asn D753N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10162 0.00265696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - -1 - 3 N - - TNFRSF25 Pro254Arg P254R not reviewed Insufficiently evaluated not reviewed unknown Array rs34529016 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.783 - - 5 Y 1 N - - ERRFI1 Ala363Thr A363T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - SLC2A7 Gly382Ser G382S not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXO6 Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FHAD1 Asp180Asn D180N not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FHAD1 Ala1167Val A1167V not reviewed Insufficiently evaluated not reviewed unknown Array rs10927776 89 3234 0.0275201 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - FHAD1 Arg1355Ser R1355S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PLEKHM2 Arg465Gly R465G not reviewed Insufficiently evaluated not reviewed unknown Array rs61738983 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CROCC Gln182Arg Q182R not reviewed Insufficiently evaluated not reviewed unknown Array 197 10728 0.0183632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PADI4 Arg8His R8H not reviewed Insufficiently evaluated not reviewed unknown Array rs35381732 277 10758 0.0257483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 1 - 0 N - - MRTO4 Arg107His R107H not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 1 - 0 N - - AKR7A2 Glu180Lys E180K not reviewed Insufficiently evaluated not reviewed unknown Array rs859210 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.716 - - 0 - 1 N - - KIF17 Met176Val M176V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSPG2 Arg3906Gln R3906Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10716 0.00167973 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - E2F2 Pro310Leu P310L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 7 Y 0 N - - C1ORF201 Leu54Met L54M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RHD Leu62Phe L62F not reviewed Insufficiently evaluated not reviewed unknown Array 242 9686 0.0249845 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF135 Val13Leu V13L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10672 0.00168666 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARID1A Asn1705Ser N1705S not reviewed Insufficiently evaluated not reviewed unknown Array rs61756316 307 10758 0.0285369 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.069 - - 0 - 0 N - - ARID1A Ala2027Pro A2027P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - 2 - 0 N - - WDTC1 Arg35Gln R35Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - MAP3K6 Asn468Lys N468K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 1 - 0 N - - AHDC1 Pro271Ala P271A not reviewed Insufficiently evaluated not reviewed unknown Array 39 10576 0.00368759 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 2 - 1 N - - XKR8 Arg334Gln R334Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - AL157420 Cys171Tyr C171Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZSCAN20 Asp248Asn D248N not reviewed Insufficiently evaluated not reviewed unknown Array rs34446695 206 9772 0.0210806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF94 Ala23Asp A23D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741816 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC30 Ser607Arg S607R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - PTPRF Leu569Val L569V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TESK2 Arg485His R485H not reviewed Insufficiently evaluated not reviewed unknown Array 28 9782 0.0028624 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - 1 - 1 N - - KNCN Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1258040 151 3234 0.0466914 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP4A22 Arg11His R11H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL9 Ser627Thr S627T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYB5RL Pro100Ser P100S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738954 8 10096 0.000792393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF168 Leu290Phe L290F not reviewed Insufficiently evaluated not reviewed unknown Array rs41305876 248 10758 0.0230526 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF87 Arg240Lys R240K not reviewed Insufficiently evaluated not reviewed unknown Array 78 10754 0.00725312 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - INADL Asn1174Ser N1174S not reviewed Insufficiently evaluated not reviewed unknown Array 253 10758 0.0235174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INADL His1637Asp H1637D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10408 0.000384319 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.603 - - 3 - 1 N - - KANK4 Arg964His R964H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - PDE4B Ala112Gly A112G not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.711 - - 1 - 1 N - - SGIP1 Cys48Ser C48S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SGIP1 Arg50Ser R50S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.783 - - 3 - 1 N - - WDR78 Arg424His R424H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZZZ3 Pro648Thr P648T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - LPHN2 Arg1323Lys R1323K not reviewed Insufficiently evaluated not reviewed unknown Array rs41292984 358 10758 0.0332776 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MCOLN2 Ala504Val A504V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745327 20 10752 0.00186012 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCOLN2 Val20Ile V20I not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COL24A1 Arg635Gln R635Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 9626 0.00737586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - LRRC8D Glu74Lys E74K not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP29 Ser913Leu S913L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - RTCD1 Met13Val M13V not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - C1ORF59 Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35974434 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OVGP1 Pro526Ser P526S not reviewed Insufficiently evaluated not reviewed unknown Array rs12096782 161 10614 0.0151686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADORA3 Met266Lys M266K not reviewed Insufficiently evaluated not reviewed unknown Array rs2800889 227 10758 0.0211006 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - PHTF1 Lys14Glu K14E not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - TBX15 Pro387Ala P387A not reviewed Insufficiently evaluated not reviewed unknown Array rs17022678 346 10758 0.0321621 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGA10 Arg668Trp R668W not reviewed Insufficiently evaluated not reviewed unknown Array rs36073645 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PDIA3P Thr42Met T42M not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCL9 Ala383Thr A383T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTMR11 Arg47His R47H not reviewed Insufficiently evaluated not reviewed unknown Array rs62621238 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTSL4 Arg973Gln R973Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - - 0 - 0 N - - TMOD4 Ser162Thr S162T not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - CGN Arg973Gln R973Q not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Cys1414Tyr C1414Y not reviewed Insufficiently evaluated not reviewed unknown Array 60 5502 0.0109051 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Ser822Tyr S822Y not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR His665Gln H665Q not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LCE3A Arg59Cys R59C not reviewed Insufficiently evaluated not reviewed unknown Array rs16834245 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IVL GlyLeu69AspMet GL69DM not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPRR2A Thr20Lys T20K not reviewed Insufficiently evaluated not reviewed unknown Array rs62618747 161 10688 0.0150636 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PGLYRP3 Ala293Val A293V not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - NPR1 Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array rs56019647 96 10684 0.0089854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 2 - 1 N - - POU5F1P4 Ala286Thr A286T not reviewed Insufficiently evaluated not reviewed unknown Array rs16865367 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMG5 Gln240Glu Q240E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - -2 - 1 N - - C1ORF85 Asn187Ser N187S not reviewed Insufficiently evaluated not reviewed unknown Array rs34655212 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRPL24 Ile133Met I133M not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.052 - - -1 - 0 N - - PEAR1 Gly281Cys G281C not reviewed Insufficiently evaluated not reviewed unknown Array 58 10690 0.00542563 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - FCRL5 Asn427Lys N427K not reviewed Insufficiently evaluated not reviewed unknown Array rs16838748 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCRL4 Lys457Arg K457R not reviewed Insufficiently evaluated not reviewed unknown Array rs2039401 184 10758 0.0171035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - FCRL4 Asn255Ser N255S not reviewed Insufficiently evaluated not reviewed unknown Array rs4561035 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.746 - - 0 - 1 N - - SPTA1 Arg1056Leu R1056L not reviewed Insufficiently evaluated not reviewed unknown Array 11 9976 0.00110265 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AIM2 Stop344Glu X344E not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR1I3 Arg306Gln R306Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR2B Tyr258Asp Y258D not reviewed Insufficiently evaluated not reviewed unknown Array 57 10756 0.00529937 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - DUSP12 Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - OLFML2B Pro560Ser P560S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - DQ576756 Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SELE Ala21Ser A21S not reviewed Insufficiently evaluated not reviewed unknown Array rs3917407 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -1 - 0 N - - KIFAP3 Glu516Asp E516D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - GORAB Phe249Leu F249L not reviewed Insufficiently evaluated not reviewed unknown Array rs35416426 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - PAPPA2 Leu832Pro L832P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 7 Y 1 N - - CEP350 Gln2017His Q2017H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF26 Lys182Arg K182R not reviewed Insufficiently evaluated not reviewed unknown Array 98 10750 0.00911628 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRG4 Thr361Ile T361I not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - PRG4 Pro404Arg P404R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10746 0.0041876 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - KIF14 Ala330Thr A330T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PKP1 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10754 0.00176678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPFIA4 Ala71Thr A71T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OPTC Arg330His R330H not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - SOX13 Pro532Ser P532S not reviewed Insufficiently evaluated not reviewed unknown Array rs34758764 150 10328 0.0145236 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 3 - 0 N - - CNTN2 Ala414Glu A414E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 3 - 1 N - - C1ORF186 Val111Leu V111L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXNA2 Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array 220 10758 0.0204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CENPF Arg1964His R1964H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NVL Gln247Arg Q247R not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LBR Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CDC42BPA Ala532Thr A532T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OBSCN Gln1248His Q1248H not reviewed Insufficiently evaluated not reviewed unknown Array 51 10004 0.00509796 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - OBSCN Glu3517Lys E3517K not reviewed Insufficiently evaluated not reviewed unknown Array 164 10406 0.0157601 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - OBSCN Lys3627Asn K3627N not reviewed Insufficiently evaluated not reviewed unknown Array 153 10050 0.0152239 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 1 N - - HIST3H3 Ala8Thr A8T not reviewed Insufficiently evaluated not reviewed unknown Array 133 10736 0.0123882 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARV1 Tyr32His Y32H not reviewed Insufficiently evaluated not reviewed unknown Array rs34745784 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - RBM34 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR1 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 7 Y 0 N - - EXO1 Ser456Tyr S456Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4149964 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - KIF26B Ala2044Val A2044V not reviewed Insufficiently evaluated not reviewed unknown Array rs61734432 288 10500 0.0274286 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHCTF1 Ile60Val I60V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10734 0.00437861 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NLRP3 Leu832Ile L832I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - OR2W5 Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.126 - - 1 - 0 N - - OR6F1 Arg172His R172H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730473 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR11L1 Gly52Asp G52D not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2T8 His51Cys H51C not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2T8 Ser87Asn S87N not reviewed Insufficiently evaluated not reviewed unknown Array 10 116 0.0862069 5 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2L2 Tyr250Cys Y250C not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR2T12 Ser135Gly S135G not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - OR2T6 Thr57Asn T57N not reviewed Insufficiently evaluated not reviewed unknown Array rs6693032 577 10758 0.0536345 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 1 N - - OR2T6 Leu159Pro L159P not reviewed Insufficiently evaluated not reviewed unknown Array rs6701129 633 10758 0.0588399 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 1 N - - OR2T10 Met59Val M59V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ASB13 Gly63Asp G63D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - NEBL Ile621Val I621V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - -4 - 2 N - - NEBL Lys64Arg K64R not reviewed Insufficiently evaluated not reviewed unknown Array rs71578975 92 10750 0.00855814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - C10ORF140 Gly144Glu G144E not reviewed Insufficiently evaluated not reviewed unknown Array rs7072980 106 4094 0.0258915 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYO3A Glu1010Lys E1010K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729833 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - ANKRD26 Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array rs61730101 173 9562 0.0180924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - -1 - 2 N - - BMS1 Thr208Met T208M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPRIN2 Arg380Trp R380W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - C10ORF71 Ala200Thr A200T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10000 0.0042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TET1 Leu166Phe L166F not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1274 Val178Leu V178L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - C10ORF27 Lys16Glu K16E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC5B Thr793Ser T793S not reviewed Insufficiently evaluated not reviewed unknown Array rs34628306 215 10758 0.0199851 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.431 - - -2 - 1 N - - SYNPO2L Pro157Leu P157L not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FUT11 Asp400Gly D400G not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - DUSP13 Arg283Gly R283G not reviewed Insufficiently evaluated not reviewed unknown Array rs16931996 379 10758 0.0352296 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POLR3A Asp456Asn D456N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SH2D4B Ala220Val A220V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - SH2D4B Arg294Cys R294C not reviewed Insufficiently evaluated not reviewed unknown Array rs12243537 326 10758 0.030303 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PIPSL Ile337Thr I337T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNTT Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array rs36126211 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF28 Lys238Asn K238N not reviewed Insufficiently evaluated not reviewed unknown Array rs7922159 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF28 Glu744Gln E744Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNNM1 Asp912Asn D912N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CUTC His124Tyr H124Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNMBP Arg493Ser R493S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX746750 Tyr50His Y50H not reviewed Insufficiently evaluated not reviewed unknown Array rs73349057 9 128 0.0703125 9 0 10 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SH3PXD2A Arg701Cys R701C not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Ala1643Ser A1643S not reviewed Insufficiently evaluated not reviewed unknown Array rs11575797 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -1 - 2 N - - CUZD1 Phe144Tyr F144Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - CPXM2 Val611Leu V611L not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - C10ORF122 Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM196A Pro448Thr P448T not reviewed Insufficiently evaluated not reviewed unknown Array rs58148253 131 10758 0.012177 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - MKI67 Ala2171Val A2171V not reviewed Insufficiently evaluated not reviewed unknown Array rs45549235 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 2 - 2 N - - MKI67 Leu1806Val L1806V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729193 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - 0 - 1 N - - MKI67 Ala1493Asp A1493D not reviewed Insufficiently evaluated not reviewed unknown Array rs61729206 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.666 - - 5 Y 1 N - - MKI67 Gly1450GlyProSer G1450GPS not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPYSL4 Ile358Val I358V not reviewed Insufficiently evaluated not reviewed unknown Array 237 10756 0.0220342 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF91 Ala89Thr A89T not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF93 Val281Met V281M not reviewed Insufficiently evaluated not reviewed unknown Array rs7907431 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR123 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array rs11101757 363 7768 0.0467302 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTDSS2 Arg312His R312H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10750 0.00130233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - C11ORF35 Arg69Lys R69K not reviewed Insufficiently evaluated not reviewed unknown Array rs58332044 210 10730 0.0195713 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PHRF1 Ala910Ser A910S not reviewed Insufficiently evaluated not reviewed unknown Array rs60477898 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PHRF1 Pro1230Leu P1230L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.147 - - 7 Y 0 N - - PHRF1 Ala1374Val A1374V not reviewed Insufficiently evaluated not reviewed unknown Array rs7123948 10 118 0.0847458 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CDHR5 Ala773Val A773V not reviewed Insufficiently evaluated not reviewed unknown Array 226 10654 0.0212127 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - MUC6 Ala1743Thr A1743T not reviewed Insufficiently evaluated not reviewed unknown Array 251 10706 0.0234448 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Thr25Ala T25A not reviewed Insufficiently evaluated not reviewed unknown Array 509 10286 0.0494847 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC2 Ser1672Ala S1672A not reviewed Insufficiently evaluated not reviewed unknown Array rs56096036 1 2 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC2 Thr1766Ser T1766S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10238 0.00644657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5AC Met3671Val M3671V not reviewed Insufficiently evaluated not reviewed unknown Array rs60867894 138 10414 0.0132514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Thr4208Ala T4208A not reviewed Insufficiently evaluated not reviewed unknown Array 67 10136 0.0066101 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Gly4658Trp G4658W not reviewed Insufficiently evaluated not reviewed unknown Array rs71469881 19 9744 0.00194992 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR51F1 His225Cys H225C not reviewed Insufficiently evaluated not reviewed unknown Array rs11033793 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR52E2 Gly147Asp G147D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - OR52A5 Lys239Glu K239E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - OR52N5 Gly122Arg G122R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - OR52N2 Thr162Asn T162N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 1 - 1 N - - OR52E6 Phe170Tyr F170Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7943698 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - OR52L1 Cys161His C161H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742092 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR52B2 Arg308Leu R308L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF42 Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNGA4 Arg345Gln R345Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740240 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - AB290171 Gly1209Ser G1209S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCHS1 Arg2871Trp R2871W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10724 0.000559492 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CYB5R2 Met152Leu M152L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.637 - - -3 - 1 N - - MRVI1 Glu798Del E798Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CTR9 Cys1052Arg C1052R not reviewed Insufficiently evaluated not reviewed unknown Array rs35696189 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAR1 Leu91Val L91V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - OTOG Thr961Met T961M not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRGPRX4 Asn245Ser N245S not reviewed Insufficiently evaluated not reviewed unknown Array rs7102322 284 10758 0.026399 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAA4 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - UEVLD Ile159Met I159M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.867 - - -1 - 2 N - - BBOX1 Val55Ala V55A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - BC156059 Thr279Asn T279N not reviewed Insufficiently evaluated not reviewed unknown Array rs289080 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF41 Gly1577Ser G1577S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735321 82 10382 0.00789829 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACCS Gly221Glu G221E not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - PRDM11 His306Gln H306Q not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAPK8IP1 Ala322Val A322V not reviewed Insufficiently evaluated not reviewed unknown Array rs34420676 60 10686 0.00561482 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR4X1 Ala110Thr A110T not reviewed Insufficiently evaluated not reviewed unknown Array rs61747640 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - OR4S1 Glu20Asp E20D not reviewed Insufficiently evaluated not reviewed unknown Array rs61745901 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - -2 - 0 N - - OR4C45 Ile241Phe I241F not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4C45 His117Arg H117R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR4C11 Val271Ile V271I not reviewed Insufficiently evaluated not reviewed unknown Array rs61747888 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - OR8J3 Asp269Gly D269G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 4 Y 0 N - - OR8U8 IleSerGluSer109ThrAlaGluCys ISES109TAEC not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MS4A1 Leu88Ile L88I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.951 - - -2 - 2 N - - C11ORF66 Pro318Ala P318A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INCENP ArgGluGlnGluArg713Del REQER713Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASRGL1 Gln158Glu Q158E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - AHNAK Arg606Gly R606G not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - RIN1 Pro686Ser P686S not reviewed Insufficiently evaluated not reviewed unknown Array 280 10756 0.026032 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - RIN1 His596Tyr H596Y not reviewed Insufficiently evaluated not reviewed unknown Array 277 10758 0.0257483 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.946 - - -1 - 2 N - - NPAS4 Thr505Ile T505I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 3 - 0 N - - CTSF Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CARNS1 Gly63Glu G63E not reviewed Insufficiently evaluated not reviewed unknown Array rs61743297 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.135 - - 6 Y 0 N - - CARNS1 Leu128Val L128V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746685 160 9606 0.0166563 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ALDH3B2 Ile274Val I274V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INPPL1 Ala950Thr A950T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - ARAP1 Pro254Leu P254L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10756 0.00687988 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHRDL2 Leu11Phe L11F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF169 Gly5Asp G5D not reviewed Insufficiently evaluated not reviewed unknown Array 26 9004 0.0028876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XRRA1 Arg471His R471H not reviewed Insufficiently evaluated not reviewed unknown Array 57 10202 0.00558714 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - XRRA1 Phe3Leu F3L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10586 0.00349518 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 1 N - - USP35 Ser328Pro S328P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10132 0.00384919 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCF11 Ala518Val A518V not reviewed Insufficiently evaluated not reviewed unknown Array 146 9932 0.0147 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - SYTL2 His984Asp H984D not reviewed Insufficiently evaluated not reviewed unknown Array rs61740626 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BIRC2 His137Arg H137R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 0 N - - DDI1 Asp323Asn D323N not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - C11ORF88 Pro167Leu P167L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753535 52 9466 0.00549334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIK2 Val396Met V396M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKK1 Pro276Leu P276L not reviewed Insufficiently evaluated not reviewed unknown Array rs35488601 50 9904 0.00504846 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HTR3B Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.273 - - 0 - 1 N - - HTR3B Met288Val M288V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.521 - - 0 - 1 N - - ZBTB16 Ile567Leu I567L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - CEP164 Arg1007Cys R1007C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - BC006134 Thr105Ala T105A not reviewed Insufficiently evaluated not reviewed unknown Array rs9332742 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIK4 Ile265Val I265V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CRTAM Glu16Ala E16A not reviewed Insufficiently evaluated not reviewed unknown Array rs35411582 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - OR10S1 Ala281Thr A281T not reviewed Insufficiently evaluated not reviewed unknown Array 325 10758 0.0302101 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10G9 Ile47Leu I47L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - VWA5A Arg547His R547H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR8B2 Met39Thr M39T not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8B12 Phe167Del F167Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EI24 Ser250Phe S250F not reviewed Insufficiently evaluated not reviewed unknown Array 34 9792 0.00347222 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPUSD4 Gly333Val G333V not reviewed Insufficiently evaluated not reviewed unknown Array rs35662702 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - RPUSD4 Asn239Tyr N239Y not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 1 N - - NCAPD3 Thr1388Met T1388M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - ERC1 Ala756Glu A756E not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - EFCAB4B His136Pro H136P not reviewed Insufficiently evaluated not reviewed unknown Array rs34088152 222 10758 0.0206358 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1RL Cys36Tyr C36Y not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - GUCY2C Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - BICD1 Asp53Glu D53E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF40 Cys345Tyr C345Y not reviewed Insufficiently evaluated not reviewed unknown Array 122 9608 0.0126978 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNTN1 Ser775Asn S775N not reviewed Insufficiently evaluated not reviewed unknown Array rs34326474 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - PUS7L Gly83Val G83V not reviewed Insufficiently evaluated not reviewed unknown Array rs28477166 107 10758 0.00994609 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - GALNT6 Pro175Gln P175Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734314 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.861 - - 4 Y 2 N - - GALNT6 Lys138Asn K138N not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - KRT80 Val238Ile V238I not reviewed Insufficiently evaluated not reviewed unknown Array rs35725856 162 10752 0.015067 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.366 - - -4 - 1 N - - KRT75 Arg312His R312H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.93 - - 1 - 2 N - - KRT75 Gly105Arg G105R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 6 Y 1 N - - KRT78 Arg363His R363H not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 2 N - - IGFBP6 Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6413498 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SOAT2 His434Gln H434Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - SP7 Ser338Leu S338L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CALCOCO1 Glu457Gly E457G not reviewed Insufficiently evaluated not reviewed unknown Array rs34311341 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - HOXC5 Lys11Asn K11N not reviewed Insufficiently evaluated not reviewed unknown Array rs35606176 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - SMUG1 His158Arg H158R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 1 - 1 N - - KIAA0748 Ala286Val A286V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733027 56 9908 0.005652 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.834 - - 2 - 1 N - - OR6C2 Asn82Ser N82S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP19 Thr491Met T491M not reviewed Insufficiently evaluated not reviewed unknown Array rs17844806 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NACA Ala565Val A565V not reviewed Insufficiently evaluated not reviewed unknown Array 25 7820 0.00319693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRIG3 Arg706Leu R706L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.809 - - 6 Y 1 N - - TBK1 Arg271Gln R271Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56196591 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C12ORF12 Lys174Arg K174R not reviewed Insufficiently evaluated not reviewed unknown Array 334 10758 0.0310467 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C12ORF74 Pro20Arg P20R not reviewed Insufficiently evaluated not reviewed unknown Array 43 9800 0.00438775 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ELK3 Pro169Leu P169L not reviewed Insufficiently evaluated not reviewed unknown Array rs35332676 300 10758 0.0278862 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - C12ORF63 Ala852Glu A852E not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UTP20 Pro339Thr P339T not reviewed Insufficiently evaluated not reviewed unknown Array 224 10758 0.0208217 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CMKLR1 Phe166Ile F166I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAD9B Arg49Gln R49Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAA25 Lys876Arg K876R not reviewed Insufficiently evaluated not reviewed unknown Array rs12231744 266 10758 0.0247258 13 0 15 0 0 - - - - - - - - - - - - - - - - 0.868 - - -3 - 2 N - - NAA25 Thr99Ala T99A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - OAS3 Gly734Arg G734R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACADS Thr219Ser T219S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ANAPC5 Met664Ile M664I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.773 - - -1 - 1 N - - NCOR2 Ala1600Ser A1600S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10632 0.000658389 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AACS Asn26Ser N26S not reviewed Insufficiently evaluated not reviewed unknown Array 6 9602 0.000624869 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AL831921 Asp345Asn D345N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKLE2 Asp426Asn D426N not reviewed Insufficiently evaluated not reviewed unknown Array 115 9748 0.0117973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - SPATA13 Val616Ala V616A not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LNX2 Ala409Gly A409G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NBEA Ser1691Asn S1691N not reviewed Insufficiently evaluated not reviewed unknown Array rs73505630 59 9790 0.00602656 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTRF1 Glu439Lys E439K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.164 - - 0 - 0 N - - KIAA0564 Gly408Arg G408R not reviewed Insufficiently evaluated not reviewed unknown Array rs17062601 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AKAP11 Asn105Ser N105S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10642 0.00498027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - AKAP11 Arg603His R603H not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - AKAP11 Thr1459Ala T1459A not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ENOX1 Gln66Arg Q66R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - NUFIP1 Lys150Glu K150E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - KLHL1 Ser88SerSerSerProSerSerSerSerSerSer S88SSSPSSSSSS not reviewed Insufficiently evaluated not reviewed unknown Array rs3751427 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LMO7 Met756Thr M756T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NALCN Asp1659Glu D1659E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - ITGBL1 Ser22Lys S22K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - F7 Arg284Gln R284Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 1 N - - FAM70B Pro116Leu P116L not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - RASA3 Arg824Trp R824W not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR4K5 Val259Ala V259A not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - OR4L1 Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array 89 10752 0.00827753 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - PARP2 Glu63Gln E63Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNASE10 Asp113Glu D113E not reviewed Insufficiently evaluated not reviewed unknown Array rs61730378 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - OXA1L Pro416Ala P416A not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRP10 Arg231Trp R231W not reviewed Insufficiently evaluated not reviewed unknown Array rs35043211 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DCAF11 Ala126Thr A126T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744791 285 10758 0.0264919 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFATC4 Ser246Asn S246N not reviewed Insufficiently evaluated not reviewed unknown Array rs2228231 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NYNRIN Ser275Gly S275G not reviewed Insufficiently evaluated not reviewed unknown Array rs74036628 345 10386 0.0332178 8 0 8 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - BC053597 His83Pro H83P not reviewed Insufficiently evaluated not reviewed unknown Array 8 126 0.0634921 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FSCB Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array rs36083807 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - TOMM20L Arg108Gln R108Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SYT16 Met34Val M34V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - SYT16 Ala536Thr A536T not reviewed Insufficiently evaluated not reviewed unknown Array 48 9850 0.0048731 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.823 - - 1 - 1 N - - SPTB Thr1897Ala T1897A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR594591 Asn63Ser N63S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCAF5 Ile642Thr I642T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - MAP3K9 Pro664Leu P664L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DCAF4 Trp22Cys W22C not reviewed Insufficiently evaluated not reviewed unknown Array rs2302588 952 10758 0.0884923 10 0 10 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 1 N - - DCAF4 Ser345Cys S345C not reviewed Insufficiently evaluated not reviewed unknown Array rs3815460 923 10758 0.0857966 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 1 N - - C14ORF169 Gln238His Q238H not reviewed Insufficiently evaluated not reviewed unknown Array rs34970526 56 9848 0.00568643 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0317 Ser801Phe S801F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - PROX2 Lys127Arg K127R not reviewed Insufficiently evaluated not reviewed unknown Array rs61740783 31 9870 0.00314083 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - NEK9 Phe63Ser F63S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - SEL1L Ser28Asn S28N not reviewed Insufficiently evaluated not reviewed unknown Array 44 10754 0.0040915 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF184 Arg55Thr R55T not reviewed Insufficiently evaluated not reviewed unknown Array rs12323881 484 9870 0.0490375 13 0 15 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GOLGA5 Thr212Asn T212N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD7 Ala851Pro A851P not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KIAA1409 Val387Ile V387I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC25A47 Val108Ile V108I not reviewed Insufficiently evaluated not reviewed unknown Array 306 10758 0.0284439 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 1 N - - C14ORF153 Lys8Arg K8R not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIF26A Val516Ile V516I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743543 3 10164 0.000295159 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - KIAA0284 Gly738Ser G738S not reviewed Insufficiently evaluated not reviewed unknown Array 6 9980 0.000601202 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - AHNAK2 Thr5732Met T5732M not reviewed Insufficiently evaluated not reviewed unknown Array rs748358 174 9698 0.0179418 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.666 - - 2 - 1 N - - AHNAK2 Thr5530Met T5530M not reviewed Insufficiently evaluated not reviewed unknown Array 24 9722 0.00246863 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.81 - - 2 - 1 N - - AHNAK2 Lys3902Asn K3902N not reviewed Insufficiently evaluated not reviewed unknown Array rs2819423 175 9752 0.017945 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - AHNAK2 Val3663Leu V3663L not reviewed Insufficiently evaluated not reviewed unknown Array 32 9952 0.00321543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.107 - - 0 - 0 N - - AHNAK2 Leu3177Val L3177V not reviewed Insufficiently evaluated not reviewed unknown Array rs2819426 2535 8800 0.288068 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.235 - - 0 - 0 N - - AHNAK2 Ile2485Met I2485M not reviewed Insufficiently evaluated not reviewed unknown Array 53 10134 0.00522992 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - AHNAK2 Met1778Thr M1778T not reviewed Insufficiently evaluated not reviewed unknown Array 36 9770 0.00368475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 2 - 0 N - - AHNAK2 Val1626Ala V1626A not reviewed Insufficiently evaluated not reviewed unknown Array rs2013466 76 9526 0.00797816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Asp1483Glu D1483E not reviewed Insufficiently evaluated not reviewed unknown Array 36 9062 0.00397263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - AHNAK2 Pro1365Ser P1365S not reviewed Insufficiently evaluated not reviewed unknown Array 38 7982 0.00476071 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - IGHV7-81 Gly45Val G45V not reviewed Insufficiently evaluated not reviewed unknown Array rs11845591 127 9878 0.0128569 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAGEL2 Ala268Phe A268F not reviewed Insufficiently evaluated not reviewed unknown Array rs74004212 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NDN Val318Ala V318A not reviewed Insufficiently evaluated not reviewed unknown Array 30 10696 0.00280479 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - THBS1 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASC5 Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array 138 9538 0.0144684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CASC5 Ile1460Thr I1460T not reviewed Insufficiently evaluated not reviewed unknown Array 15 9518 0.00157596 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASC5 Lys1644Arg K1644R not reviewed Insufficiently evaluated not reviewed unknown Array 137 9518 0.0143938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLA2G4F Pro223Ser P223S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - GANC Lys26Arg K26R not reviewed Insufficiently evaluated not reviewed unknown Array 121 10754 0.0112516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SPATA5L1 Arg65Gln R65Q not reviewed Insufficiently evaluated not reviewed unknown Array 75 9914 0.00756506 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - SPATA5L1 Asn592Asp N592D not reviewed Insufficiently evaluated not reviewed unknown Array rs16943025 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - USP50 Gly326Ala G326A not reviewed Insufficiently evaluated not reviewed unknown Array 65 9742 0.00667214 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - NEDD4 Asn65Lys N65K not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEDD4 Ser29Arg S29R not reviewed Insufficiently evaluated not reviewed unknown Array 93 10756 0.00864634 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NARG2 Val567Ile V567I not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VPS13C Gly3616Asp G3616D not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - MTFMT Ile283Val I283V not reviewed Insufficiently evaluated not reviewed unknown Array 17 9700 0.00175258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - KBTBD13 Gly39Arg G39R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC33 Thr65Ile T65I not reviewed Insufficiently evaluated not reviewed unknown Array 57 9946 0.00573095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSK Gly287Asp G287D not reviewed Insufficiently evaluated not reviewed unknown Array rs34866753 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CHRNB4 Ser140Gly S140G not reviewed Insufficiently evaluated not reviewed unknown Array rs56218866 214 10756 0.0198959 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.825 - - 2 - 1 N - - IL16 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array 180 9782 0.0184011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMC3 Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10206 0.00146972 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BNC1 Leu772Ile L772I not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -2 - 0 N - - SCAND2 Pro110Thr P110T not reviewed Insufficiently evaluated not reviewed unknown Array rs16974462 28 3234 0.00865801 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ALPK3 Cys710Gly C710G not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - KIF7 Pro119Leu P119L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEMA4B Ala524Val A524V not reviewed Insufficiently evaluated not reviewed unknown Array 220 10278 0.0214049 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF774 Leu222Val L222V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGPEP1L Val50Ile V50I not reviewed Insufficiently evaluated not reviewed unknown Array 119 10514 0.0113182 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.782 - - -4 - 1 N - - SYNM Gly451Arg G451R not reviewed Insufficiently evaluated not reviewed unknown Array 8 9902 0.000807917 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR90 Ser802Cys S802C not reviewed Insufficiently evaluated not reviewed unknown Array 91 10156 0.00896022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RHBDL1 Arg168Gln R168Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RPUSD1 Gly266Asp G266D not reviewed Insufficiently evaluated not reviewed unknown Array 21 10524 0.00199544 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - CACNA1H Arg1069Gln R1069Q not reviewed Insufficiently evaluated not reviewed unknown Array rs57633676 53 10146 0.00522373 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - UNKL Leu253Ile L253I not reviewed Insufficiently evaluated not reviewed unknown Array 58 10672 0.00543478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTX4 Ala178Val A178V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - PPL Leu600Val L600V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF68 Val45Ile V45I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10060 0.00308151 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CIITA Thr165Ser T165S not reviewed Insufficiently evaluated not reviewed unknown Array rs34648899 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - CIITA Ala658Gly A658G not reviewed Insufficiently evaluated not reviewed unknown Array rs2229319 84 10716 0.00783874 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - CLEC16A Leu946Phe L946F not reviewed Insufficiently evaluated not reviewed unknown Array rs61744103 150 10522 0.0142558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK310228 Cys38Arg C38R not reviewed Insufficiently evaluated not reviewed unknown Array rs62032887 2 62 0.0322581 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPRC5B Val147Met V147M not reviewed Insufficiently evaluated not reviewed unknown Array 73 10740 0.00679702 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - ACSM2B Arg21His R21H not reviewed Insufficiently evaluated not reviewed unknown Array 40 10752 0.00372024 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - THUMPD1 Thr322Met T322M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK292594 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs16970675 9 126 0.0714286 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - VWA3A Gln972Pro Q972P not reviewed Insufficiently evaluated not reviewed unknown Array rs16972517 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBBP6 Arg1182His R1182H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10756 0.00381183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 1 - 2 N - - CES1 Arg200His R200H not reviewed Insufficiently evaluated not reviewed unknown Array rs2307243 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CES1 Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2307241 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP15 Thr643Ile T643I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10752 0.00344122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RLTPR Lys937Del K937Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC040486 Ala100Val A100V not reviewed Insufficiently evaluated not reviewed unknown Array rs13334384 421 10718 0.0392797 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMED6 Val169Glu V169E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - COG4 Ser183Asn S183N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYDIN Val2055Leu V2055L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - RFWD3 Lys259Glu K259E not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR59 Pro274Ala P274A not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - TMEM231 Ala186Val A186V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSGIN1 Glu142Lys E142K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ADAD2 Arg18His R18H not reviewed Insufficiently evaluated not reviewed unknown Array 48 9572 0.00501462 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - KIAA1609 Asn39Ser N39S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP10 Val490Met V490M not reviewed Insufficiently evaluated not reviewed unknown Array rs34121691 24 9622 0.00249428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CRISPLD2 Met270Val M270V not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZDHHC7 Thr297Met T297M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - KIAA0182 Gln954Arg Q954R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - SLC7A5 Asp223Val D223V not reviewed Insufficiently evaluated not reviewed unknown Array rs17853937 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 8 Y 0 N - - CA5A Asn45Lys N45K not reviewed Insufficiently evaluated not reviewed unknown Array 279 10758 0.0259342 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.712 - - 1 - 1 N - - ZNF469 Pro1777His P1777H not reviewed Insufficiently evaluated not reviewed unknown Array 9 3222 0.0027933 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 2 N - - MVD Asn278His N278H not reviewed Insufficiently evaluated not reviewed unknown Array rs34519538 112 10722 0.0104458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 0 - 2 N - - AK055272 Val76Met V76M not reviewed Insufficiently evaluated not reviewed unknown Array rs73262119 9 128 0.0703125 8 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CDK10 Ala230Val A230V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 2 N - - GAS8 Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734732 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -3 - 1 N - - BC089450 Val50Met V50M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEMIN4 Met992Val M992V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10182 0.00294637 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPV3 Ala32Gly A32G not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - ALOX15 Arg466Trp R466W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - SLC25A11 Arg288Cys R288C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - USP6 CysTrpValArg477Del CWVR477Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF594 Gly635Ser G635S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ZNF594 Lys631Glu K631E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 2 N - - ALOX12 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DNAH2 Met1617Thr M1617T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - DNAH2 Asp2029Ala D2029A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - NDEL1 Gly300Asp G300D not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 4 Y 0 N - - MYH10 Glu341Asp E341D not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP43 Pro937His P937H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737696 69 9976 0.0069166 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.881 - - 5 Y 2 N - - DHRS7C Gly118Ser G118S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10154 0.0005909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTC19 Thr456Ile T456I not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - CCDC144A Met437Thr M437T not reviewed Insufficiently evaluated not reviewed unknown Array rs2543859 3 9438 0.000317863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO15A Thr1008Ser T1008S not reviewed Insufficiently evaluated not reviewed unknown Array 98 9774 0.0100266 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CCDC144B PheSer49LeuPro FS49LP not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SSH2 Ala1114Gly A1114G not reviewed Insufficiently evaluated not reviewed unknown Array rs61737984 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB5 Lys197Del K197Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPD Lys499Arg K499R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743601 358 10758 0.0332776 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CPD Thr1353Ala T1353A not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 1 - 1 N - - LRRC37B Ser201Arg S201R not reviewed Insufficiently evaluated not reviewed unknown Array rs34912557 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM98 Trp83Arg W83R not reviewed Insufficiently evaluated not reviewed unknown Array rs35124349 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NPEPPS Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7212559 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERBB2 Trp452Cys W452C not reviewed Insufficiently evaluated not reviewed unknown Array rs4252633 183 10758 0.0170106 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - KRT26 Glu316Gln E316Q not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM99 Thr28Ile T28I not reviewed Insufficiently evaluated not reviewed unknown Array 78 10312 0.007564 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP1-3 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GAST Phe92Leu F92L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 Y - 0 - 3 N - - STAT5A Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230123 255 10750 0.0237209 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF18B Arg176His R176H not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - C17ORF46 Tyr78His Y78H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC37A HisVal1313ArgMet HV1313RM not reviewed Insufficiently evaluated not reviewed unknown Array 3 54 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NPEPPS Thr475Ala T475A not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - B4GALNT2 Met374Ile M374I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - KIF2B Ala82Thr A82T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRC2 Ser155Thr S155T not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MRC2 Val1302Ile V1302I not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PECAM1 Glu238Lys E238K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDK2 Thr1727Met T1727M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CASKIN2 Pro919Leu P919L not reviewed Insufficiently evaluated not reviewed unknown Array 36 9294 0.00387347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.552 - - 7 Y 1 N - - AL832652 Gly490Ser G490S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS3BP Ser129Arg S129R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 3 - 0 N - - BAHCC1 Thr912Asn T912N not reviewed Insufficiently evaluated not reviewed unknown Array 659 9630 0.068432 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SMCHD1 Ile960Val I960V not reviewed Insufficiently evaluated not reviewed unknown Array rs9961682 334 9630 0.0346833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LAMA1 Asn2286Ser N2286S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - MPPE1 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array rs35611363 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPPE1 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11872520 195 10758 0.018126 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPN2 Val247Met V247M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731982 36 10756 0.00334697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.211 - - 0 - 1 N - - CTAGE1 Ile668Val I668V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OSBPL1A Gly218Ser G218S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TAF4B Ala152Met A152M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRAPPC8 Arg609His R609H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASXL3 Val1668Met V1668M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10106 0.00217692 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - SETBP1 Ser441Thr S441T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1632 Arg1252Trp R1252W not reviewed Insufficiently evaluated not reviewed unknown Array 3 9716 0.000308769 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LOXHD1 Glu694Lys E694K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LOXHD1 Gly354Cys G354C not reviewed Insufficiently evaluated not reviewed unknown Array rs35088381 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LOXHD1 Gly348Cys G348C not reviewed Insufficiently evaluated not reviewed unknown Array rs34589386 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO5B His879Gln H879Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC102B Ala116Ser A116S not reviewed Insufficiently evaluated not reviewed unknown Array 15 9854 0.00152222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC102B Glu358Lys E358K not reviewed Insufficiently evaluated not reviewed unknown Array 91 10756 0.00846039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RTTN Gly444Arg G444R not reviewed Insufficiently evaluated not reviewed unknown Array 14 9668 0.00144808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNDP1 Leu20Del L20Del not reviewed Insufficiently evaluated not reviewed unknown Array rs67791561 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSHZ1 Ala549Val A549V not reviewed Insufficiently evaluated not reviewed unknown Array 45 10742 0.00418916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLRMT Ser1193Phe S1193F not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - POLRMT Pro566Ser P566S not reviewed Insufficiently evaluated not reviewed unknown Array rs41545023 50 10186 0.0049087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - NM_024888 Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array rs351993 332 6040 0.0549669 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ADAMTSL5 Leu231Met L231M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATP8B3 Arg1257His R1257H not reviewed Insufficiently evaluated not reviewed unknown Array 121 10072 0.0120135 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPRSS9 Ile131Val I131V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -4 - 2 N - - ZNF556 Ala353Thr A353T not reviewed Insufficiently evaluated not reviewed unknown Array rs35296337 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNF57 Asp22Tyr D22Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF77 Pro179Ser P179S not reviewed Insufficiently evaluated not reviewed unknown Array rs34705382 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - AK098244 Ser640Leu S640L not reviewed Insufficiently evaluated not reviewed unknown Array rs73529965 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PIAS4 Pro434Leu P434L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10726 0.00167817 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - ANKRD24 Pro240Leu P240L not reviewed Insufficiently evaluated not reviewed unknown Array rs7251041 409 9800 0.0417347 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.384 - - 7 Y 1 N - - PLIN4 Asn827Lys N827K not reviewed Insufficiently evaluated not reviewed unknown Array 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 2 N - - PTPRS Gln1930His Q1930H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - PRR22 Gln213Leu Q213L not reviewed Insufficiently evaluated not reviewed unknown Array rs2436489 8 122 0.0655738 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.689 - - 5 Y 0 N - - DUS3L Val279Met V279M not reviewed Insufficiently evaluated not reviewed unknown Array rs34473865 31 10726 0.00289017 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - PCP2 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array rs61741491 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - LRRC8E Glu181Arg E181R not reviewed Insufficiently evaluated not reviewed unknown Array rs3745379 7 118 0.059322 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - FBN3 Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF414 Ala50Ser A50S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10620 0.00131827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - MUC16 Arg13991Gln R13991Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 10342 0.00444788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Ile6149Met I6149M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10390 0.000384985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Val4305Leu V4305L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR7G1 Ser249Phe S249F not reviewed Insufficiently evaluated not reviewed unknown Array rs28599881 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - ZNF559 Leu6Trp L6W not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CDC37 Val295Ile V295I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10752 0.0031622 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - -4 - 0 N - - KRI1 Lys363Glu K363E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - ZNF627 Pro128Ala P128A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746712 53 10600 0.005 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - PGLYRP2 Gly234Val G234V not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - NWD1 Asp78Val D78V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750950 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANO8 Arg105Cys R105C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - FCHO1 Val801Ile V801I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INSL3 Val18Met V18M not reviewed Insufficiently evaluated not reviewed unknown Array 18 8276 0.00217496 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - KIAA1683 Glu275Asp E275D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ISYNA1 Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10610 0.00169651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUGP2 Arg881Gln R881Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35646935 326 10758 0.030303 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SUGP2 Gln649Arg Q649R not reviewed Insufficiently evaluated not reviewed unknown Array rs10414535 327 10758 0.030396 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SUGP2 Met552Thr M552T not reviewed Insufficiently evaluated not reviewed unknown Array rs10404860 501 10758 0.04657 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GATAD2A Asp374Asn D374N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF714 Cys549Tyr C549Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF99 Glu975Lys E975K not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0355 Arg228Trp R228W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF792 Asp370Asn D370N not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - CD22 Gly551Arg G551R not reviewed Insufficiently evaluated not reviewed unknown Array rs35715143 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 6 Y 0 N - - HAUS5 Ser530Arg S530R not reviewed Insufficiently evaluated not reviewed unknown Array rs61738561 59 10068 0.00586015 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - BC007817 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730228 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UPK1A Arg88Cys R88C not reviewed Insufficiently evaluated not reviewed unknown Array rs61730228 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - LIN37 Pro172Ser P172S not reviewed Insufficiently evaluated not reviewed unknown Array rs35617825 191 10056 0.0189936 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRODH2 Ser273Cys S273C not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.871 Y - 3 - 3 N - - NPHS1 Pro1200Ser P1200S not reviewed Insufficiently evaluated not reviewed unknown Array rs35240811 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 3 - 1 N - - LTBP4 Ala1533Val A1533V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10470 0.00630372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2A6 Glu419Asp E419D not reviewed Insufficiently evaluated not reviewed unknown Array rs8192730 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2A6 Asn418Asp N418D not reviewed Insufficiently evaluated not reviewed unknown Array rs28399463 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP2A13 Glu194Val E194V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - PSG3 Tyr344His Y344H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ZNF225 Leu45Phe L45F not reviewed Insufficiently evaluated not reviewed unknown Array rs62640901 82 10758 0.00762223 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEACAM16 Phe74Leu F74L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10084 0.00238001 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NPAS1 Arg123Cys R123C not reviewed Insufficiently evaluated not reviewed unknown Array 30 10746 0.00279174 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - 8 Y 2 N - - DHX34 Arg919His R919H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLTSCR2 Leu195Phe L195F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SULT2B1 Arg302Gly R302G not reviewed Insufficiently evaluated not reviewed unknown Array rs61748775 38 10746 0.0035362 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 6 Y 2 N - - NTN5 Pro487Leu P487L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10034 0.0101654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - PLEKHA4 Arg588Gln R588Q not reviewed Insufficiently evaluated not reviewed unknown Array 95 10754 0.00883392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.835 - - 0 - 1 N - - PPP1R15A Lys241Arg K241R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - -3 - 1 N - - PPP1R15A Arg534Gln R534Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - GYS1 Pro442Ala P442A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 2 - 3 N - - IRF3 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array rs968457 212 10758 0.0197063 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.873 - - 0 - 2 N - - ASPDH Pro6Arg P6R not reviewed Insufficiently evaluated not reviewed unknown Array rs7248272 62 3234 0.0191713 9 0 10 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - ZNF175 Ile457Phe I457F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 2 - 1 N - - ZNF600 Lys106Arg K106R not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - -3 - 1 N - - CACNG6 Pro247Thr P247T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738518 57 10714 0.00532014 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.24 - - 4 Y 1 N - - LILRA4 Arg399Cys R399C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LILRA4 Ala317Thr A317T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10692 0.000654695 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYT5 Val271Ile V271I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.586 - - -4 - 1 N - - NAT14 Val58Ala V58A not reviewed Insufficiently evaluated not reviewed unknown Array 3 74 0.0405405 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF835 Pro8Ala P8A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PEG3 Ser698Ala S698A not reviewed Insufficiently evaluated not reviewed unknown Array rs35087473 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - PEG3 Val533Leu V533L not reviewed Insufficiently evaluated not reviewed unknown Array rs28524173 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - USP29 Gln615Arg Q615R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ZNF211 Asp123Asn D123N not reviewed Insufficiently evaluated not reviewed unknown Array rs34897843 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF552 Thr236Ala T236A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731287 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF135 Ala148Gly A148G not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - ZNF135 Ser588Gly S588G not reviewed Insufficiently evaluated not reviewed unknown Array rs61732967 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.312 - - 2 - 1 N - - ZNF274 Glu281Gln E281Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745224 146 10102 0.0144526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF544 Arg708Gln R708Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - KIDINS220 Ala1299Gly A1299G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10186 0.00343609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NT5C1B Pro47Ala P47A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - SDC1 Gly217Glu G217E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - PLB1 Val1204Phe V1204F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - FAM179A Gly761Arg G761R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10728 0.00438106 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 6 Y 0 N - - C2ORF71 Glu227Lys E227K not reviewed Insufficiently evaluated not reviewed unknown Array 324 10286 0.0314991 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LCLAT1 Asn44Ser N44S not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDKL4 Thr163Met T163M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SLC8A1 Tyr2Phe Y2F not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - PLEKHH2 Met228Val M228V not reviewed Insufficiently evaluated not reviewed unknown Array rs10175843 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DYNC2LI1 Gly265Ser G265S not reviewed Insufficiently evaluated not reviewed unknown Array 104 10756 0.00966902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCG5 Thr517Ser T517S not reviewed Insufficiently evaluated not reviewed unknown Array rs17031672 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - -2 - 1 N - - ABCG5 Asn410His N410H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.706 Y - 0 - 2 N - - ABCG5 Lys262Arg K262R not reviewed Insufficiently evaluated not reviewed unknown Array 212 10756 0.0197099 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - -3 - 1 N - - PSME4 Ile758Val I758V not reviewed Insufficiently evaluated not reviewed unknown Array rs2302878 10 128 0.078125 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CCDC85A Arg406Gly R406G not reviewed Insufficiently evaluated not reviewed unknown Array 77 10720 0.00718284 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CEP68 Val607Ala V607A not reviewed Insufficiently evaluated not reviewed unknown Array 68 10006 0.00679592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPHOSPH10 Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EMX1 Gly2Ser G2S not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF78 Gln728Lys Q728K not reviewed Insufficiently evaluated not reviewed unknown Array 146 10272 0.0142134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC142 ThrVal548AsnLeu TV548NL not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC142 Gln481Glu Q481E not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TLX2 Arg229Cys R229C not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DQX1 Tyr232Ser Y232S not reviewed Insufficiently evaluated not reviewed unknown Array rs73949679 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C2ORF65 Gln70Arg Q70R not reviewed Insufficiently evaluated not reviewed unknown Array 224 10758 0.0208217 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD1 Asn1548Lys N1548K not reviewed Insufficiently evaluated not reviewed unknown Array 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TEKT4 Asn117Asp N117D not reviewed Insufficiently evaluated not reviewed unknown Array 3 80 0.0375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TEKT4 Leu170Pro L170P not reviewed Insufficiently evaluated not reviewed unknown Array 4 34 0.117647 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 1 N - - TEKT4 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 2 - 0 N - - TEKT4 Pro426Thr P426T not reviewed Insufficiently evaluated not reviewed unknown Array 2 80 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - TEKT4 Thr427Pro T427P not reviewed Insufficiently evaluated not reviewed unknown Array 2 82 0.0243902 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - ITPRIPL1 Arg441His R441H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.886 - - 1 - 2 N - - ANKRD36B Gly425Glu G425E not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - TMEM131 SerPro1715ProPhe SP1715PF not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK131289 Leu123Del L123Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEPT10 Arg324His R324H not reviewed Insufficiently evaluated not reviewed unknown Array 5 9812 0.00050958 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.733 - - 1 - 1 N - - IL1A Asp138Asn D138N not reviewed Insufficiently evaluated not reviewed unknown Array rs3783581 69 10758 0.00641383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - NR_002826 Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIF1 GluIleCys1837Gly EIC1837G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COBLL1 Ala318Thr A318T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCN7A Met600Leu M600L not reviewed Insufficiently evaluated not reviewed unknown Array rs34183637 139 9548 0.014558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - XIRP2 His2770Tyr H2770Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16853329 40 9642 0.00414852 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - G6PC2 Ile273Val I273V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NM_016653 Lys784Thr K784T not reviewed Insufficiently evaluated not reviewed unknown Array rs55830025 95 9634 0.00986091 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - RBM45 Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZSWIM2 His607Tyr H607Y not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKAR Thr611Ala T611A not reviewed Insufficiently evaluated not reviewed unknown Array 87 10754 0.00809001 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HECW2 Val701Met V701M not reviewed Insufficiently evaluated not reviewed unknown Array rs34114195 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RFTN2 Arg451His R451H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARD3B Pro653Ala P653A not reviewed Insufficiently evaluated not reviewed unknown Array 6 9532 0.000629458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FASTKD2 Asn396Ser N396S not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 0 - 3 N - - FAM119A Ala209Pro A209P not reviewed Insufficiently evaluated not reviewed unknown Array rs35026137 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - BARD1 Lys207Arg K207R not reviewed Insufficiently evaluated not reviewed unknown Array rs34969857 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -3 - 2 N - - FN1 Val14Leu V14L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10748 0.00372162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - PLCD4 Asn475Lys N475K not reviewed Insufficiently evaluated not reviewed unknown Array 31 9926 0.00312311 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPEG Pro2231His P2231H not reviewed Insufficiently evaluated not reviewed unknown Array 121 9928 0.0121878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OBSL1 Glu1373Lys E1373K not reviewed Insufficiently evaluated not reviewed unknown Array 194 10606 0.0182915 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOGAT1 Met172Leu M172L not reviewed Insufficiently evaluated not reviewed unknown Array 107 9726 0.0110014 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AP1S3 Leu79Val L79V not reviewed Insufficiently evaluated not reviewed unknown Array rs34353588 21 9870 0.00212766 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOCK10 Ser1035Cys S1035C not reviewed Insufficiently evaluated not reviewed unknown Array 40 9742 0.00410593 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1486 Lys213Glu K213E not reviewed Insufficiently evaluated not reviewed unknown Array rs61741087 64 9814 0.0065213 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - DNER Pro309Leu P309L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - SP140 Thr246Ala T246A not reviewed Insufficiently evaluated not reviewed unknown Array 9 9706 0.000927261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SP140 Gly412Arg G412R not reviewed Insufficiently evaluated not reviewed unknown Array 63 9720 0.00648148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SP140L Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10270 0.00107108 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.698 - - 1 - 1 N - - RBM44 Asp52His D52H not reviewed Insufficiently evaluated not reviewed unknown Array rs13393001 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - RBM44 Asn892His N892H not reviewed Insufficiently evaluated not reviewed unknown Array rs10186505 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - GPC1 Gly264Ser G264S not reviewed Insufficiently evaluated not reviewed unknown Array 223 10756 0.0207326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AQP12B Phe51Cys F51C not reviewed Insufficiently evaluated not reviewed unknown Array 380 10752 0.0353423 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NEU4 Pro44His P44H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10746 0.000744463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IDH3B Gly25Asp G25D not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 4 Y 0 N - - AX746654 Gly135Arg G135R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD5 Ile589Val I589V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -4 - 0 N - - BTBD3 His84Gln H84Q not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KIF16B Ser1138Asn S1138N not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OTOR Arg102Gly R102G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 6 Y 0 N - - SLC24A3 Val381Met V381M not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NINL Leu492Pro L492P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - MYLK2 Ala113Ser A113S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - POFUT1 Arg364Gln R364Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - C20ORF114 Gly210Ser G210S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDK5RAP1 Met91Thr M91T not reviewed Insufficiently evaluated not reviewed unknown Array rs35633148 213 10758 0.0197992 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UQCC Ile64Val I64V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UQCC Arg40Gly R40G not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF117 Gln993His Q993H not reviewed Insufficiently evaluated not reviewed unknown Array rs34459518 269 9844 0.0273263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBPJL Ser501Ile S501I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10752 0.00120908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TP53RK Thr135Ile T135I not reviewed Insufficiently evaluated not reviewed unknown Array rs61729174 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - ZMYND8 Ala474Thr A474T not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF217 Ser869Pro S869P not reviewed Insufficiently evaluated not reviewed unknown Array rs34533727 106 10758 0.00985313 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - GCNT7 Ile99Thr I99T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF43 Pro244Ser P244S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF106 Ser169Ile S169I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP4R1L Arg74Trp R74W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LAMA5 Ser3365Gly S3365G not reviewed Insufficiently evaluated not reviewed unknown Array 121 10716 0.0112915 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - LAMA5 Arg3275Cys R3275C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - LAMA5 Pro1586Leu P1586L not reviewed Insufficiently evaluated not reviewed unknown Array 152 10728 0.0141685 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - 7 Y 0 N - - LAMA5 Ala863Val A863V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10714 0.0145604 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - COL20A1 Pro1229Leu P1229L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RTEL1 Ala301Thr A301T not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTEL1 Glu966Asp E966D not reviewed Insufficiently evaluated not reviewed unknown Array 72 10734 0.00670766 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC2A4RG Ala341Val A341V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10674 0.000281056 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - NPBWR2 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - TPTE Arg269Trp R269W not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPTE ArgArg220Lys RR220K not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMPRSS15 Thr65Ile T65I not reviewed Insufficiently evaluated not reviewed unknown Array rs35987974 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - N6AMT1 Asn5Ile N5I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 7 Y 0 N - - HUNK Gly541Glu G541E not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - URB1 Pro752Ala P752A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - URB1 Met207Val M207V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RRP1B Leu631Pro L631P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737068 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - PWP2 His867Arg H867R not reviewed Insufficiently evaluated not reviewed unknown Array rs34694890 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP10-1 His30Pro H30P not reviewed Insufficiently evaluated not reviewed unknown Array 58 10736 0.00540238 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - LSS Arg116His R116H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCM3AP Val1576Ile V1576I not reviewed Insufficiently evaluated not reviewed unknown Array rs17183248 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PCNT Arg208His R208H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.749 - - 1 - 1 N - - XKR3 Phe39Leu F39L not reviewed Insufficiently evaluated not reviewed unknown Array 53 9682 0.00547408 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - AB020626 Glu956Gln E956Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAB36 Glu320Lys E320K not reviewed Insufficiently evaluated not reviewed unknown Array rs9624038 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BCR Asp752Glu D752E not reviewed Insufficiently evaluated not reviewed unknown Array rs12484731 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IGLL1 Arg48Gly R48G not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - LRP5L Gly242Ser G242S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10752 0.00827753 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TFIP11 Met140Val M140V not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CRYBA4 Arg103Cys R103C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 8 Y 1 N - - KREMEN1 Ile302Val I302V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9920 0.000806451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C22ORF30 Val795Ile V795I not reviewed Insufficiently evaluated not reviewed unknown Array rs56097054 24 3234 0.00742115 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - APOL3 Thr220Ile T220I not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - TST Arg206Cys R206C not reviewed Insufficiently evaluated not reviewed unknown Array rs61742280 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.723 - - 8 Y 1 N - - SOX10 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CACNA1I Leu503Pro L503P not reviewed Insufficiently evaluated not reviewed unknown Array 4 8876 0.000450653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WBP2NL Ser150Arg S150R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.694 - - 3 - 1 N - - TCF20 Ser25Ala S25A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - -1 - 2 N - - PRR5-ARHGAP8 Tyr177Cys Y177C not reviewed Insufficiently evaluated not reviewed unknown Array rs16992915 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CELSR1 Arg2312Pro R2312P not reviewed Insufficiently evaluated not reviewed unknown Array rs7287089 134 10390 0.012897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BRD1 Gly776Arg G776R not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - NCAPH2 Ser246Cys S246C not reviewed Insufficiently evaluated not reviewed unknown Array rs35941723 181 10750 0.0168372 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - CNTN6 Thr128Ile T128I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 3 - 0 N - - CNTN6 Phe150Ser F150S not reviewed Insufficiently evaluated not reviewed unknown Array rs6808056 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - SETMAR His580Gln H580Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - SETD5 Met1137Val M1137V not reviewed Insufficiently evaluated not reviewed unknown Array rs13327456 70 9804 0.00713994 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - HRH1 Met14Ile M14I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - SYN2 Ser553Cys S553C not reviewed Insufficiently evaluated not reviewed unknown Array 5 9982 0.000500901 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NUP210 Val1367Ala V1367A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NUP210 Pro1026Leu P1026L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - FGD5 Gly162Arg G162R not reviewed Insufficiently evaluated not reviewed unknown Array rs7636593 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC4A7 Asp342Gly D342G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OSBPL10 Ser223Leu S223L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - CLASP2 Ala37Asp A37D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLCD1 Gln742Arg Q742R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSRNP1 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - XIRP1 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - ANO10 Arg103Gly R103G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF197 Tyr454Phe Y454F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -4 - 2 N - - LTF Val482Leu V482L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10750 0.00288372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ALS2CL Asp656Gly D656G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 4 Y 2 N - - SETD2 Ala345Val A345V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMB2 Ile1533Thr I1533T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.3 Y - 3 - 2 N - - RAD54L2 Pro250Arg P250R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITIH1 Gln772Leu Q772L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730358 226 10758 0.0210076 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.042 - - 5 Y 0 N - - IL17RD Ala642Pro A642P not reviewed Insufficiently evaluated not reviewed unknown Array rs61740622 126 10752 0.0117188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - LRIG1 Asn866Ser N866S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - LRIG1 Thr688Ser T688S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -2 - 2 N - - ZNF717 Asn704Lys N704K not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 Ser701Asn S701N not reviewed Insufficiently evaluated not reviewed unknown Array 3 118 0.0254237 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF717 Thr697Lys T697K not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Ser492Leu S492L not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Lys491Arg K491R not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF717 Gly485Arg G485R not reviewed Insufficiently evaluated not reviewed unknown Array 3 94 0.0319149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Ala245Val A245V not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FILIP1L Gln214Glu Q214E not reviewed Insufficiently evaluated not reviewed unknown Array 41 9632 0.00425664 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.269 - - -2 - 1 N - - DZIP3 Ser3Cys S3C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734868 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - PHLDB2 Asn782Ser N782S not reviewed Insufficiently evaluated not reviewed unknown Array rs35506232 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHLDB2 Arg910Trp R910W not reviewed Insufficiently evaluated not reviewed unknown Array rs34081887 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD200R1L Met22Thr M22T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRAMD1C Glu549Ala E549A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10746 0.0053043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DRD3 Cys102Phe C102F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - POLQ Gln1565His Q1565H not reviewed Insufficiently evaluated not reviewed unknown Array rs3218639 60 10756 0.00557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ILDR1 Trp344Arg W344R not reviewed Insufficiently evaluated not reviewed unknown Array rs35661993 175 10758 0.016267 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC58 Glu88Lys E88K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SEMA5B Pro18Leu P18L not reviewed Insufficiently evaluated not reviewed unknown Array rs34127147 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ROPN1B Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10752 0.00353423 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - COPG Arg304His R304H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - COL6A5 Asn641His N641H not reviewed Insufficiently evaluated not reviewed unknown Array rs9882852 26 3228 0.00805452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATR Arg443Thr R443T not reviewed Insufficiently evaluated not reviewed unknown Array rs28367453 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.22 - - 3 - 1 N - - PLS1 Val526Ile V526I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - -4 - 1 N - - CHST2 Asn512Asp N512D not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 1 N - - PLSCR4 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 113 10356 0.0109115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM194A Val48Glu V48E not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DHX36 Glu231Asp E231D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LXN Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - OTOL1 Lys324Arg K324R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - -3 - 0 N - - LRRC31 Ser133Phe S133F not reviewed Insufficiently evaluated not reviewed unknown Array 33 9904 0.00333199 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - PCLD Ile857Val I857V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 2 N - - PARL Ala223Val A223V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LPP Ala290Gly A290G not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - LPP Arg418Gly R418G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 6 Y 1 N - - ATP13A5 Lys344Glu K344E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - ATP13A4 Cys582Ser C582S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 3 - 0 N - - AX746839 Ser115Leu S115L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF34 Gln31His Q31H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0226 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10138 0.000591832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF141 Ser352Leu S352L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.609 - - 6 Y 1 N - - PIGG Ala53Asp A53D not reviewed Insufficiently evaluated not reviewed unknown Array rs28454778 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - FAM53A Asn45Ser N45S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - TACC3 Asp709Gly D709G not reviewed Insufficiently evaluated not reviewed unknown Array rs34327000 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.157 - - 4 Y 0 N - - POLN Phe711Leu F711L not reviewed Insufficiently evaluated not reviewed unknown Array rs34554757 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - POLN Gly258Val G258V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - ZBTB49 Tyr652Cys Y652C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EVC Arg647Gln R647Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35401386 10 10754 0.000929886 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 N - - MAN2B2 Leu961Phe L961F not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORCS2 Thr745Ile T745I not reviewed Insufficiently evaluated not reviewed unknown Array rs16840899 191 10060 0.0189861 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - C4ORF23 Leu481Pro L481P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BOD1L Ala833Thr A833T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLIT2 Glu1104Lys E1104K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - SEL1L3 Ile457Arg I457R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - AX748249 Ser180Ile S180I not reviewed Insufficiently evaluated not reviewed unknown Array rs6825674 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TLR6 Asn690Thr N690T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - UGT2B17 Phe89Val F89V not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC7 Pro169Thr P169T not reviewed Insufficiently evaluated not reviewed unknown Array rs41413151 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC7 Thr176Ser T176S not reviewed Insufficiently evaluated not reviewed unknown Array rs41459148 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC7 Asp372Glu D372E not reviewed Insufficiently evaluated not reviewed unknown Array rs41424846 139 10758 0.0129206 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - UTP3 Glu105Asp E105D not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RASSF6 Pro177Ser P177S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - AX794786 Arg134Leu R134L not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR591456 Arg381Cys R381C not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANXA3 Ile219Asn I219N not reviewed Insufficiently evaluated not reviewed unknown Array rs5948 313 10758 0.0290946 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - DSPP Val355Ile V355I not reviewed Insufficiently evaluated not reviewed unknown Array rs61738515 25 9642 0.00259282 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSPP Ser792Gly S792G not reviewed Insufficiently evaluated not reviewed unknown Array 20 8274 0.00241721 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DSPP Asp1270Asn D1270N not reviewed Insufficiently evaluated not reviewed unknown Array rs61738519 20 8292 0.00241196 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MMRN1 Thr578Ser T578S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10756 0.00492748 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - CENPE Val1258Leu V1258L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPA2 Val243Leu V243L not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.167 - - 0 - 0 N - - PPA2 Leu18Arg L18R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10700 0.000280373 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SGMS2 Asn296Ser N296S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - EGF Glu892Lys E892K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.278 - - 0 - 1 N - - NDST3 His804Gln H804Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10748 0.00148865 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - ANKRD50 Arg136Cys R136C not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PHF17 Leu403Arg L403R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 6 Y 0 N - - C4ORF45 Pro59Ser P59S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9524 0.000209995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASP3 Ala183Val A183V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - KIAA1430 Thr499Met T499M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729128 103 9776 0.010536 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - UFSP2 Cys311Ser C311S not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - LRRC14B Arg459Cys R459C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10656 0.000187687 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZDHHC11 Asp114Asn D114N not reviewed Insufficiently evaluated not reviewed unknown Array 111 10306 0.0107704 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.334 - - -1 - 1 N - - SLC12A7 Ala351Val A351V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733461 88 10752 0.00818452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS16 Arg659Gln R659Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743639 74 9904 0.00747173 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - TRIO Ala2464Val A2464V not reviewed Insufficiently evaluated not reviewed unknown Array 66 8940 0.00738255 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TARS Gly580Cys G580C not reviewed Insufficiently evaluated not reviewed unknown Array 316 10758 0.0293735 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.885 - - 7 Y 2 N - - ADAMTS12 Asp1393Glu D1393E not reviewed Insufficiently evaluated not reviewed unknown Array rs61757473 104 10758 0.00966722 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - ADAMTS12 Asn1012Ser N1012S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748196 79 10758 0.00734337 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC23L Lys247Asn K247N not reviewed Insufficiently evaluated not reviewed unknown Array rs34702907 66 9962 0.00662518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPEF2 Arg1345Met R1345M not reviewed Insufficiently evaluated not reviewed unknown Array 134 9654 0.0138803 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - OSMR Val169Ile V169I not reviewed Insufficiently evaluated not reviewed unknown Array rs35207712 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RICTOR Asp799Glu D799E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - TTC33 Thr224Ser T224S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MRPS30 Lys305Arg K305R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CCNO Gly264Arg G264R not reviewed Insufficiently evaluated not reviewed unknown Array 85 10708 0.00793799 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 6 Y 1 N - - CENPK Arg26Gly R26G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10750 0.00232558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 6 Y 1 N - - ERBB2IP Asn277Thr N277T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - NM_001080479 Asp1494Tyr D1494Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61748630 2 8994 0.00022237 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - PDE8B Ile423Val I423V not reviewed Insufficiently evaluated not reviewed unknown Array rs61999348 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SCAMP1 Gly50Ser G50S not reviewed Insufficiently evaluated not reviewed unknown Array 169 9708 0.0174083 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CMYA5 Ser3166Leu S3166L not reviewed Insufficiently evaluated not reviewed unknown Array 30 9608 0.0031224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DQ579214 Ser221Asn S221N not reviewed Insufficiently evaluated not reviewed unknown Array rs56239991 3 92 0.0326087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERAP1 Val588Gly V588G not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.628 - - 8 Y 1 N - - ERAP2 Val239Ala V239A not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 2 - 0 N - - SLCO6A1 Val324Ile V324I not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SNCAIP Gly554Asp G554D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - CCNI2 Ala95Thr A95T not reviewed Insufficiently evaluated not reviewed unknown Array rs6897725 71 4718 0.0150487 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC25A48 Thr102Met T102M not reviewed Insufficiently evaluated not reviewed unknown Array 18 9924 0.00181378 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - CXXC5 Gly12Ser G12S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10112 9.8892e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC4A9 His933Arg H933R not reviewed Insufficiently evaluated not reviewed unknown Array rs34401528 271 9868 0.0274625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB5 Ser716Gly S716G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDHB6 Leu120Phe L120F not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - PCDHB6 Ala265Val A265V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - PCDHB16 Asn647His N647H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10278 0.00214049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - PCDHB14 Val103Met V103M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751919 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PCDHB15 Pro672Gln P672Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10698 0.00289774 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.78 - - 4 Y 1 N - - CSF1R Asn241Asp N241D not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDGFRB Ala773Asp A773D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - 5 Y 1 N - - ARSI Gly31Trp G31W not reviewed Insufficiently evaluated not reviewed unknown Array 135 10662 0.0126618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 7 Y 0 N - - SLC36A1 Phe362Leu F362L not reviewed Insufficiently evaluated not reviewed unknown Array rs9687945 160 10758 0.0148727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ODZ2 Asn728Ser N728S not reviewed Insufficiently evaluated not reviewed unknown Array rs6862925 73 10310 0.0070805 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - SFXN1 Thr143Ala T143A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 1 - 1 N - - C5ORF25 Met548Val M548V not reviewed Insufficiently evaluated not reviewed unknown Array rs55844480 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC5A Arg534His R534H not reviewed Insufficiently evaluated not reviewed unknown Array 260 10750 0.024186 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001080544 Gly5Arg G5R not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF354A Arg182Gly R182G not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - TBC1D9B Met1004Thr M1004T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - 2 - 1 N - - TBC1D9B Gly910Glu G910E not reviewed Insufficiently evaluated not reviewed unknown Array 99 10756 0.00920417 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - BTNL8 Ser335Gly S335G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HUS1B Val136Leu V136L not reviewed Insufficiently evaluated not reviewed unknown Array 98 10640 0.00921053 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.795 - - 0 - 1 N - - FARS2 Ser57Cys S57C not reviewed Insufficiently evaluated not reviewed unknown Array rs34382405 72 10758 0.00669269 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - FARS2 Tyr324Cys Y324C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - LY86 Met160Val M160V not reviewed Insufficiently evaluated not reviewed unknown Array rs1802323 345 10758 0.0320692 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCM2 Gln7His Q7H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.151 Y - -1 - 1 N - - SYCP2L Ala671Val A671V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 1 N - - C6ORF62 Val39Leu V39L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIST1H1E Pro161Leu P161L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10708 9.3388e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HIST1H2BE Thr20Ser T20S not reviewed Insufficiently evaluated not reviewed unknown Array rs61978632 406 10758 0.0377394 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-A Val36Met V36M not reviewed Insufficiently evaluated not reviewed unknown Array rs41545116 137 10692 0.0128133 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-A Ala269Val A269V not reviewed Insufficiently evaluated not reviewed unknown Array rs41562917 342 7510 0.0455393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - HLA-C Glu299Lys E299K not reviewed Insufficiently evaluated not reviewed unknown Array rs41556321 1182 10108 0.116937 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-C Leu294Cys L294C not reviewed Insufficiently evaluated not reviewed unknown Array rs41546713 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LY6G6F Pro34Gln P34Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17200983 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - VARS Pro1008Leu P1008L not reviewed Insufficiently evaluated not reviewed unknown Array rs1076827 223 10758 0.0207288 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.95 - - 7 Y 2 N - - C4B Val1207Ala V1207A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229403 3 108 0.0277778 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNXB Lys1127Arg K1127R not reviewed Insufficiently evaluated not reviewed unknown Array rs61910712 146 6888 0.0211963 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -3 - 2 N - - NOTCH4 Glu1536Del E1536Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ITPR3 His9Tyr H9Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF76 Leu119Ser L119S not reviewed Insufficiently evaluated not reviewed unknown Array rs34368976 90 10756 0.00836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 6 Y 0 N - - ZNF76 Val410Met V410M not reviewed Insufficiently evaluated not reviewed unknown Array rs34771695 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DNAH8 Ala46Val A46V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH8 Ala1071Ser A1071S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - C6ORF64 Arg173Leu R173L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DAAM2 Arg105His R105H not reviewed Insufficiently evaluated not reviewed unknown Array rs6919807 52 10082 0.00515771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - TFEB Arg65Cys R65C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRICKLE4 Arg147His R147H not reviewed Insufficiently evaluated not reviewed unknown Array rs35880970 200 10758 0.0185908 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP49 Leu128Met L128M not reviewed Insufficiently evaluated not reviewed unknown Array 194 10752 0.0180432 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BYSL Ile290Val I290V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - -4 - 2 N - - TTBK1 Thr634Ser T634S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10542 0.000379434 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.162 - - -2 - 0 N - - XPO5 Asp530Gly D530G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739889 77 9828 0.00783476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 0 N - - POLH Thr329Ile T329I not reviewed Insufficiently evaluated not reviewed unknown Array rs35675573 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 - Y 3 - 1 N - - TDRD6 Ile1410Val I1410V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GCLC Pro462Ser P462S not reviewed Insufficiently evaluated not reviewed unknown Array rs17883718 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - FAM135A Ile725Val I725V not reviewed Insufficiently evaluated not reviewed unknown Array rs9455142 258 10750 0.024 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM135A Pro954Ser P954S not reviewed Insufficiently evaluated not reviewed unknown Array rs16869301 255 10752 0.0237165 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - DDX43 Gly6Glu G6E not reviewed Insufficiently evaluated not reviewed unknown Array rs35097680 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD109 Ala1195Val A1195V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - SENP6 Pro219Arg P219R not reviewed Insufficiently evaluated not reviewed unknown Array 9 9602 0.000937304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.484 - - 5 Y 1 N - - ZNF292 Gln1223Glu Q1223E not reviewed Insufficiently evaluated not reviewed unknown Array rs61739183 19 9694 0.00195998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MDN1 Thr4385Met T4385M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLHL32 Glu578Val E578V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 5 Y 2 N - - MMS22L His1192Gln H1192Q not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - MMS22L Ile826Val I826V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MMS22L Val236Leu V236L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - PRDM1 Thr488Arg T488R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP57L1 Asp194Glu D194E not reviewed Insufficiently evaluated not reviewed unknown Array rs351733 173 10688 0.0161864 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - REV3L Gln1309His Q1309H not reviewed Insufficiently evaluated not reviewed unknown Array rs3218595 235 10758 0.0218442 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 1 N - - FAM26E Ser134Arg S134R not reviewed Insufficiently evaluated not reviewed unknown Array rs34972589 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - FAM26E Thr298Met T298M not reviewed Insufficiently evaluated not reviewed unknown Array rs35398770 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - AKAP7 Ile35Val I35V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10746 0.00111669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - REPS1 Glu626Asp E626D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UTRN Thr2222Ala T2222A not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMD5 Pro80Leu P80L not reviewed Insufficiently evaluated not reviewed unknown Array 27 4960 0.00544355 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.376 - - 7 Y 1 N - - AKAP12 Ala1557Gly A1557G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.603 - - 1 - 1 N - - TIAM2 Lys373Asn K373N not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - FNDC1 Gly1274Val G1274V not reviewed Insufficiently evaluated not reviewed unknown Array 13 9902 0.00131287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 8 Y 2 N - - IGF2R Pro666Leu P666L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10750 0.00409302 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 1 N - - IGF2R Thr1822Met T1822M not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 2 - 1 N - - IGF2R Arg1832His R1832H not reviewed Insufficiently evaluated not reviewed unknown Array rs8191904 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - SLC22A1 Val461Ile V461I not reviewed Insufficiently evaluated not reviewed unknown Array rs34295611 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DACT2 Pro208Ser P208S not reviewed Insufficiently evaluated not reviewed unknown Array 14 3156 0.00443599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 3 - 1 N - - COL28A1 Pro677Thr P677T not reviewed Insufficiently evaluated not reviewed unknown Array 206 9584 0.0214942 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.889 - - 4 Y 2 N - - TMEM106B Asp39Val D39V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 8 Y 2 N - - SCIN Arg462Gln R462Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10086 0.0016855 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 0 - 1 N - - DNAH11 Asp141Tyr D141Y not reviewed Insufficiently evaluated not reviewed unknown Array rs72655969 218 9528 0.0228799 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - DNAH11 Cys2763Arg C2763R not reviewed Insufficiently evaluated not reviewed unknown Array 53 9592 0.00552544 2 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - DNAH11 His2795Asp H2795D not reviewed Insufficiently evaluated not reviewed unknown Array 49 10044 0.00487853 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DNAH11 Lys3694Glu K3694E not reviewed Insufficiently evaluated not reviewed unknown Array rs72657402 112 10154 0.0110301 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - NOD1 Val86Del V86Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BBS9 Leu665Phe L665F not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.09 - Y 0 - 1 N - - BBS9 Ala739Val A739V not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 - Y 2 - 1 N - - AK225487 Trp173Arg W173R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001003806 Val37Ile V37I not reviewed Insufficiently evaluated not reviewed unknown Array rs17418300 2 9582 0.000208724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF92 Arg178His R178H not reviewed Insufficiently evaluated not reviewed unknown Array 77 10746 0.00716546 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.222 - - 1 - 1 N - - DNAJC30 Ala67Thr A67T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732176 175 10754 0.016273 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CLDN4 Gly129Ser G129S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - GTF2I Asn440Ser N440S not reviewed Insufficiently evaluated not reviewed unknown Array 3 98 0.0306122 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SEMA3A Ile334Val I334V not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - MTERF Arg251Gln R251Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - PPP1R9A Gly827Ala G827A not reviewed Insufficiently evaluated not reviewed unknown Array rs58319274 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DYNC1I1 Gln47Pro Q47P not reviewed Insufficiently evaluated not reviewed unknown Array 67 10756 0.00622908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRRAP Val2024Ile V2024I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KPNA7 Gly155Ala G155A not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - ZCWPW1 Arg393Cys R393C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9668 0.000103434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC3A SerArg388ThrCys SR388TC not reviewed Insufficiently evaluated not reviewed unknown Array rs75799835 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ORAI2 Ala15Pro A15P not reviewed Insufficiently evaluated not reviewed unknown Array rs34947403 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - LRRC17 Thr95Ile T95I not reviewed Insufficiently evaluated not reviewed unknown Array rs34613342 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXL13 Asp148Gly D148G not reviewed Insufficiently evaluated not reviewed unknown Array 150 10748 0.0139561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXL13 Phe145Ser F145S not reviewed Insufficiently evaluated not reviewed unknown Array 150 10748 0.0139561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARMC10 Ser180Gly S180G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - DPY19L2P2 Cys359Ser C359S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJC2 Gln27Arg Q27R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741449 42 9620 0.0043659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RELN Cys2069Gly C2069G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NR_002144 Pro196Ser P196S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740498 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHCHD3 Asp39Asn D39N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHCHD3 Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SVOPL Ile196Thr I196T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - KIAA1549 Pro261Ser P261S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10004 0.00079968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TBXAS1 Lys258Glu K258E not reviewed Insufficiently evaluated not reviewed unknown Array rs5769 216 10758 0.0200781 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R4 Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2233995 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - MGAM Glu1079Gln E1079Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 9776 0.00368249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - KEL Leu597Pro L597P not reviewed Insufficiently evaluated not reviewed unknown Array rs8176038 322 10758 0.0299312 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAS2R40 Lys184Del K184Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2A5 Glu173Lys E173K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2A2 Thr146Arg T146R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735905 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - 3 - 1 N - - NOBOX Gly91Trp G91W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GIMAP8 Arg516Cys R516C not reviewed Insufficiently evaluated not reviewed unknown Array 292 10758 0.0271426 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - WDR86 Pro375Leu P375L not reviewed Insufficiently evaluated not reviewed unknown Array 37 3540 0.010452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC040865 Tyr26His Y26H not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NCAPG2 Glu600Gln E600Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10258 0.00341197 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 1 N - - NCAPG2 Arg44Gly R44G not reviewed Insufficiently evaluated not reviewed unknown Array rs35156975 32 9576 0.00334169 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - WDR60 Arg489Gly R489G not reviewed Insufficiently evaluated not reviewed unknown Array 21 9514 0.00220727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYOM2 Lys1270Glu K1270E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCPH1 Tyr330Cys Y330C not reviewed Insufficiently evaluated not reviewed unknown Array 29 9764 0.00297009 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 6 Y 1 N - - NM_001080826 Leu122Ile L122I not reviewed Insufficiently evaluated not reviewed unknown Array rs55764617 104 9776 0.0106383 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - RP1L1 Glu1540Asp E1540D not reviewed Insufficiently evaluated not reviewed unknown Array 106 10450 0.0101435 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RP1L1 Pro272Ala P272A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10060 0.00357853 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LZTS1 Leu567Val L567V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - NPM2 Ser24Asn S24N not reviewed Insufficiently evaluated not reviewed unknown Array rs7815455 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - 0 - 0 N - - HR Pro1085Ala P1085A not reviewed Insufficiently evaluated not reviewed unknown Array 25 8366 0.00298828 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 2 - 2 N - - LEPROTL1 Glu107Asp E107D not reviewed Insufficiently evaluated not reviewed unknown Array 51 3234 0.0157699 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DQ578159 Arg213Cys R213C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA0146 Lys295Thr K295T not reviewed Insufficiently evaluated not reviewed unknown Array 8 9652 0.000828843 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - ST18 Arg515Cys R515C not reviewed Insufficiently evaluated not reviewed unknown Array rs2303460 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TOX Met40Leu M40L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -3 - 1 N - - C8ORF45 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPA1 Arg996Cys R996C not reviewed Insufficiently evaluated not reviewed unknown Array rs61758121 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PMP2 Gly122Asp G122D not reviewed Insufficiently evaluated not reviewed unknown Array 230 10752 0.0213914 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CPNE3 Ala381Val A381V not reviewed Insufficiently evaluated not reviewed unknown Array rs35620413 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - PKHD1L1 Ile3992Val I3992V not reviewed Insufficiently evaluated not reviewed unknown Array rs35561171 88 9588 0.00917814 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MED30 Ala25Ser A25S not reviewed Insufficiently evaluated not reviewed unknown Array rs6994975 137 10714 0.012787 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL14A1 Gln627Pro Q627P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - FER1L6 Val1160Ile V1160I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10094 0.000594412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SQLE Asn382Ser N382S not reviewed Insufficiently evaluated not reviewed unknown Array 27 9724 0.00277664 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCY8 Ser60Arg S60R not reviewed Insufficiently evaluated not reviewed unknown Array 24 8958 0.00267917 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - LRRC6 Ala158Ser A158S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - -1 - 1 N - - TG Arg931His R931H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - TRAPPC9 Val1153Ile V1153I not reviewed Insufficiently evaluated not reviewed unknown Array rs35578974 60 10750 0.00558139 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZC3H3 Ser880Lys S880K not reviewed Insufficiently evaluated not reviewed unknown Array rs2272754 5 88 0.0568182 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZC3H3 Pro833Ser P833S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10684 0.000280793 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - TIGD5 Ser393Gly S393G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10652 0.000281637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF707 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10326 0.000484214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAPK15 Arg321Trp R321W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10056 0.000198886 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.613 - - 7 Y 1 N - - SCRIB Gly1555Ser G1555S not reviewed Insufficiently evaluated not reviewed unknown Array 412 10056 0.0409706 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - EPPK1 Gly1320Arg G1320R not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OPLAH Ser642Cys S642C not reviewed Insufficiently evaluated not reviewed unknown Array 11 9946 0.00110597 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPLAH Arg501Gln R501Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10446 0.00459506 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCK5 Arg177Trp R177W not reviewed Insufficiently evaluated not reviewed unknown Array 77 10752 0.00716146 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - VPS28 Val46Met V46M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - C9ORF66 Arg75Pro R75P not reviewed Insufficiently evaluated not reviewed unknown Array 9 6624 0.00135869 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BNC2 Pro606Leu P606L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 7 Y 1 N - - CNTLN Met400Thr M400T not reviewed Insufficiently evaluated not reviewed unknown Array 196 9526 0.0205753 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - IFNA10 Asp118Glu D118E not reviewed Insufficiently evaluated not reviewed unknown Array 353 10710 0.0329598 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFNA10 Ile61Phe I61F not reviewed Insufficiently evaluated not reviewed unknown Array 60 10744 0.00558451 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFNA10 Arg60Gly R60G not reviewed Insufficiently evaluated not reviewed unknown Array 78 10744 0.00725986 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFNA2 Ser34Asn S34N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAF1L Ile1766Val I1766V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736667 134 10758 0.0124558 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIF24 Glu252Gly E252G not reviewed Insufficiently evaluated not reviewed unknown Array 93 9584 0.00970367 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.25 - - 6 Y 1 N - - ARID3C Arg385His R385H not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - C9ORF131 Leu285Phe L285F not reviewed Insufficiently evaluated not reviewed unknown Array rs10117097 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TESK1 Asn332Ser N332S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR13J1 Tyr120Cys Y120C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ANKRD18A Leu742Met L742M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -3 - 0 N - - TJP2 Gln879Arg Q879R not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y - 0 - 3 N - - SMC5 Ile500Val I500V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRPM3 Asn1618Ile N1618I not reviewed Insufficiently evaluated not reviewed unknown Array 280 10758 0.0260271 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM3 Gln15Arg Q15R not reviewed Insufficiently evaluated not reviewed unknown Array 31 9822 0.00315618 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - AK122718 Lys72Arg K72R not reviewed Insufficiently evaluated not reviewed unknown Array 70 4586 0.0152638 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - VPS13A Lys2743Thr K2743T not reviewed Insufficiently evaluated not reviewed unknown Array 72 10750 0.00669767 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 - Y 3 - 1 N - - CEP78 Ala381Thr A381T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM75D1 Ile673Met I673M not reviewed Insufficiently evaluated not reviewed unknown Array 153 9650 0.0158549 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - -1 - 1 N - - C9ORF64 Val219Ala V219A not reviewed Insufficiently evaluated not reviewed unknown Array rs35818297 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTSL3 Ser95Thr S95T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.953 - - -2 - 2 N - - C9ORF79 Val785Met V785M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SECISBP2 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array rs62638730 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - SECISBP2 Gly492Val G492V not reviewed Insufficiently evaluated not reviewed unknown Array rs62638732 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - ANKS6 Ala220Thr A220T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10152 0.00226556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACTL7A Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - SVEP1 Met962Leu M962L not reviewed Insufficiently evaluated not reviewed unknown Array 63 9604 0.00655977 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.136 - - -3 - 0 N - - ASTN2 Val1149Ile V1149I not reviewed Insufficiently evaluated not reviewed unknown Array rs16933591 222 10758 0.0206358 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - CDK5RAP2 Asn603Ile N603I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - PTGS1 Gly230Ser G230S not reviewed Insufficiently evaluated not reviewed unknown Array rs3842795 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR1K1 Arg273Cys R273C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AK131516 Met71Lys M71K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP6C Ile77Val I77V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - SH2D3C Val168Met V168M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GOLGA2 Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF119 Ala38Ser A38S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF114 Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array rs34500948 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP188 Asn1587Lys N1587K not reviewed Insufficiently evaluated not reviewed unknown Array rs12350674 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NM_013318 Pro930Leu P930L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9632 0.00124585 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_013318 Gly2149Asp G2149D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10108 0.0015829 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GBGT1 Leu79Pro L79P not reviewed Insufficiently evaluated not reviewed unknown Array rs12350913 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.374 - - 7 Y 1 N - - NOTCH1 Arg504His R504H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10380 0.00125241 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - LCN10 Met173Thr M173T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10754 0.00139483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCN10 Ser41Leu S41L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF140 Arg261Cys R261C not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AF391805 Leu155Pro L155P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AF391805 Tyr159Cys Y159C not reviewed Insufficiently evaluated not reviewed unknown Array rs35070048 4 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCXD1 Glu205Lys E205K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - PLCXD1 Tyr260Cys Y260C not reviewed Insufficiently evaluated not reviewed unknown Array 140 10750 0.0130233 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - GTPBP6 Arg33His R33H not reviewed Insufficiently evaluated not reviewed unknown Array 177 10134 0.017466 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP2R3B Leu347Ile L347I not reviewed Insufficiently evaluated not reviewed unknown Array 74 10240 0.00722656 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MXRA5 Gly798Ser G798S not reviewed Insufficiently evaluated not reviewed unknown Array 20 8761 0.00228284 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - SHROOM2 His424Arg H424R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - SHROOM2 Ala932Ser A932S not reviewed Insufficiently evaluated not reviewed unknown Array rs61752518 184 8686 0.0211835 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - -1 - 1 N - - EGFL6 Leu508Phe L508F not reviewed Insufficiently evaluated not reviewed unknown Array rs34550481 176 8761 0.020089 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - CA5B Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array 62 8761 0.00707682 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.347 - - 1 - 1 N - - FAM47C Val543Ile V543I not reviewed Insufficiently evaluated not reviewed unknown Array 125 8759 0.014271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - FAM47C Arg701His R701H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYTL5 Arg160His R160H not reviewed Insufficiently evaluated not reviewed unknown Array 16 8759 0.00182669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP9X Pro44Leu P44L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - CXORF36 Arg394Leu R394L not reviewed Insufficiently evaluated not reviewed unknown Array 247 6145 0.0401953 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CXORF36 Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9969 40 8761 0.00456569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CXORF36 Leu19Val L19V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF630 Thr546Ile T546I not reviewed Insufficiently evaluated not reviewed unknown Array 113 8743 0.0129246 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - ZNF630 Pro542Thr P542T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 4 Y 2 N - - ZNF630 Gly437Glu G437E not reviewed Insufficiently evaluated not reviewed unknown Array 111 8743 0.0126959 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - MAGIX Ser68Gly S68G not reviewed Insufficiently evaluated not reviewed unknown Array rs7891878 233 8350 0.0279042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - HEPH Arg867Trp R867W not reviewed Insufficiently evaluated not reviewed unknown Array rs61741156 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.115 - - 7 Y 0 N - - AX746688 Val126Gly V126G not reviewed Insufficiently evaluated not reviewed unknown Array 3 92 0.0326087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - ERCC6L Asn189Ser N189S not reviewed Insufficiently evaluated not reviewed unknown Array 184 8761 0.0210022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMGN5 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array rs73631719 194 8758 0.0221512 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.789 - - 0 - 1 N - - SATL1 Arg252Gln R252Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POF1B Pro207Ser P207S not reviewed Insufficiently evaluated not reviewed unknown Array rs363766 147 8761 0.0167789 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPXCR1 Ser102Tyr S102Y not reviewed Insufficiently evaluated not reviewed unknown Array 77 8761 0.00878895 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 5 Y 0 N - - NM_001127438 Pro144Leu P144L not reviewed Insufficiently evaluated not reviewed unknown Array 5 92 0.0543478 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001127438 Leu111Pro L111P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001127438 Arg100Gln R100Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZMAT1 Leu307Ser L307S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TEX13A Ala181Val A181V not reviewed Insufficiently evaluated not reviewed unknown Array 54 8427 0.00640797 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GUCY2F Asn495His N495H not reviewed Insufficiently evaluated not reviewed unknown Array 134 8761 0.0152951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DOCK11 Val1573Ala V1573A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - ACTRT1 Ser36Thr S36T not reviewed Insufficiently evaluated not reviewed unknown Array 27 8761 0.00308184 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - IGSF1 Gly1126Ser G1126S not reviewed Insufficiently evaluated not reviewed unknown Array 43 8761 0.00490812 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEC3 Lys228Arg K228R not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BGN Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - RENBP Asp274Gly D274G not reviewed Insufficiently evaluated not reviewed unknown Array rs2269371 2 88 0.0227273 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CHD5 Val1506Shift V1506Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHIA Tyr326Shift Y326Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Gln2983Leu Q2983L not reviewed Insufficiently evaluated not reviewed unknown Array 10 5750 0.00173913 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 5 Y 2 N - - FLG Gln2625Lys Q2625K not reviewed Insufficiently evaluated not reviewed unknown Array 97 10386 0.00933949 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y -2 - 4 N - - FLG Gly2387Glu G2387E not reviewed Insufficiently evaluated not reviewed unknown Array 116 10704 0.0108371 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.949 Y Y 6 Y 4 N - - GBA Trp76Arg W76R not reviewed Insufficiently evaluated not reviewed unknown Array rs1135668 5 126 0.0396825 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CDH23 Asp885AspAsnAsp D885DND not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CDH23 Leu1120Val L1120V not reviewed Insufficiently evaluated not reviewed unknown Array 71 10146 0.00699783 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CDH23 Asp1803Glu D1803E not reviewed Insufficiently evaluated not reviewed unknown Array rs74145660 117 10034 0.0116604 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - KNDC1 Glu1482Shift E1482Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EXT2 His571Arg H571R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - MYBPC3 Ser25Asn S25N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10456 0.000382555 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AK054725 Thr65Shift T65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ROBO3 Pro397Thr P397T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10130 0.005923 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.133 Y - 4 Y 1 N - - OR6C76 Arg290Shift R290Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58396798 5 128 0.0390625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACACB Ser195Shift S195Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SACS Ala1373Leu A1373L not reviewed Insufficiently evaluated not reviewed unknown Array rs61548169 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - RPGRIP1 Thr806Ile T806I not reviewed Insufficiently evaluated not reviewed unknown Array 108 10202 0.0105862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - OR4M2 Phe153Shift F153Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GREM1 Arg64Shift R64Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Val1128Met V1128M not reviewed Insufficiently evaluated not reviewed unknown Array 18 9716 0.00185261 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - GOLGA6A Ala97Shift A97Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRK1 Phe963Shift F963Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSC2 Leu309Gln L309Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 5 Y 4 N - - BC139719 Arg134Stop R134X not reviewed Insufficiently evaluated not reviewed unknown Array rs8050754 5 44 0.113636 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CDRT15 Arg24Stop R24X not reviewed Insufficiently evaluated not reviewed unknown Array rs11651890 3 72 0.0416667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM18B2 Arg156Shift R156Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN4A Arg18His R18H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 1 - 4 N - - BC033247 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1670997 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK057217 Thr389Shift T389Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PPAP2C Trp243Stop W243X not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC137015 Thr171Shift T171Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RELB Gly64Shift G64Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Tyr1969His Y1969H not reviewed Insufficiently evaluated not reviewed unknown Array rs34532796 65 9782 0.00664486 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NEB LeuAlaGlnProAla57Del LAQPA57Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Glu32212Lys E32212K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ala13059Val A13059V not reviewed Insufficiently evaluated not reviewed unknown Array 19 9502 0.00199958 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL3A1 Ala40Glu A40E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PNKD Ser338Phe S338F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.481 Y Y 5 Y 3 N - - APOL5 Pro417Shift P417Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APOL3 Lys264Shift K264Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN5A Ser524Tyr S524Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41313691 119 10194 0.0116735 2 0 2 1 1 1 Y - - 0 Y - - - - - - Y - - - - Y Y 5 Y 3 N - - The rare variant SCN5A-S524Y does not appear to be a risk for cardiac arrhythmia in a case-control study. COL7A1 Pro2429Leu P2429L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229822 41 10722 0.00382391 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ZNF80 Leu232Shift L232Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAT1 Pro3788Leu P3788L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10010 0.0002997 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 7 Y 2 N - - FAT1 Pro1283Leu P1283L not reviewed Insufficiently evaluated not reviewed unknown Array rs60068521 3 9752 0.000307629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 Y - 7 Y 3 N - - CDC20B Arg36Shift R36Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SQSTM1 Arg312Gly R312G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.012 Y - 6 Y 1 N - - HIST1H2AL Ala46Shift A46Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZBTB22 Glu591Shift E591Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMA2 Pro2923Leu P2923L not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LPA Val341Shift V341Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCB5 Arg353Stop R353X not reviewed Insufficiently evaluated not reviewed unknown Array 18 7810 0.00230474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLNC Met2668Thr M2668T not reviewed Insufficiently evaluated not reviewed unknown Array 30 9446 0.00317595 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.854 Y Y 2 - 4 N - - C8ORF73 Leu378Shift L378Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EPPK1 Asp2189Shift D2189Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OPLAH Gly1167Shift G1167Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71643811 6 12 0.5 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FREM1 Gln1976Shift Q1976Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C9ORF93 Ala1247Shift A1247Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C9ORF57 Phe13Shift F13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001100111 Pro14Shift P14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LCNL1 Leu154Shift L154Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WASF4 Gln359Stop Q359X not reviewed Insufficiently evaluated not reviewed unknown Array rs61736395 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZMYM3 Ala456Shift A456Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP2B3 Pro1176Shift P1176Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OPN1LW Ile230Thr I230T not reviewed Insufficiently evaluated not reviewed unknown Array 21 8702 0.00241324 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 3 - 2 N - - AK128833 Arg31Ile R31I not reviewed Insufficiently evaluated not reviewed unknown Array 60 3234 0.0185529 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VWA1 Ala70Ser A70S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10732 0.00186358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - NOL9 Gln56Arg Q56R not reviewed Insufficiently evaluated not reviewed unknown Array 2 6038 0.000331235 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.461 - - 0 - 1 N - - FHAD1 Gln1362Arg Q1362R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - FBLIM1 Leu138Met L138M not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - UBXN11 CysProGly486Ser CPG486S not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAL1 Gly123Asp G123D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC5A9 Leu200Ser L200S not reviewed Insufficiently evaluated not reviewed unknown Array rs57262835 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP24 Asp847Gly D847G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYDE2 Val236Asp V236D not reviewed Insufficiently evaluated not reviewed unknown Array rs61753619 131 10112 0.0129549 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FNDC7 Pro452Leu P452L not reviewed Insufficiently evaluated not reviewed unknown Array rs1277017 6 128 0.046875 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD101 Gly157Ser G157S not reviewed Insufficiently evaluated not reviewed unknown Array rs34999087 195 10758 0.018126 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LCE2C Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12064325 146 10752 0.0135789 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IVL Glu86Gln E86Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 70 0.0428571 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IVL Leu87Gln L87Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 62 0.0967742 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM189B Leu534Phe L534F not reviewed Insufficiently evaluated not reviewed unknown Array rs61732801 163 10758 0.0151515 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR1I3 Arg97Trp R97W not reviewed Insufficiently evaluated not reviewed unknown Array rs34161743 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR2C Tyr204Phe Y204F not reviewed Insufficiently evaluated not reviewed unknown Array rs1050499 3 10448 0.000287136 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CEP350 Pro796Arg P796R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - CEP350 Arg1541Lys R1541K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10738 0.000465636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -3 - 0 N - - CEP350 Asn2449Ser N2449S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM58B Asp14Glu D14E not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM58B Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array rs6704017 169 10738 0.0157385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PIK3C2B Pro1012Gln P1012Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61763415 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADCK3 His85Gln H85Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2297411 445 10758 0.0413646 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PRSS38 Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array 221 10754 0.0205505 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.572 - - 0 - 1 N - - OBSCN Gly6372Ala G6372A not reviewed Insufficiently evaluated not reviewed unknown Array rs60187304 47 10326 0.00455162 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.467 - - 1 - 1 N - - OBSCN Glu7718Lys E7718K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - 0 - 0 N - - AX747246 Pro78Leu P78L not reviewed Insufficiently evaluated not reviewed unknown Array 3 94 0.0319149 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FMN2 Gly1084Ala G1084A not reviewed Insufficiently evaluated not reviewed unknown Array rs4997328 1 68 0.0147059 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNST Gln183Arg Q183R not reviewed Insufficiently evaluated not reviewed unknown Array rs12091148 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - CNST Arg399Cys R399C not reviewed Insufficiently evaluated not reviewed unknown Array rs12075111 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2T8 Lys88Asn K88N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR2M2 Cys235His C235H not reviewed Insufficiently evaluated not reviewed unknown Array rs4916104 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2T2 Thr107Asn T107N not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 2 N - - OTUD1 Ala270Ser A270S not reviewed Insufficiently evaluated not reviewed unknown Array 28 3214 0.00871188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1462 Arg412Gln R412Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 9872 0.000911669 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.353 - - 0 - 1 N - - MARCH8 Asp401Asn D401N not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPYR1 Asn318Asp N318D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - WDFY4 Arg2472Gln R2472Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 3234 0.00525665 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNA2 Tyr962Cys Y962C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9690 0.000206398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UNC5B Ala10Leu A10L not reviewed Insufficiently evaluated not reviewed unknown Array rs61757568 1 28 0.0357143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CFLP1 Gln62Glu Q62E not reviewed Insufficiently evaluated not reviewed unknown Array rs61737034 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBC1D12 Ala292Val A292V not reviewed Insufficiently evaluated not reviewed unknown Array 13 7164 0.00181463 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CASC2 Asn37Lys N37K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.792 - - 1 - 1 N - - DMBT1 Ser36Leu S36L not reviewed Insufficiently evaluated not reviewed unknown Array 8 9702 0.000824572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 6 Y 0 N - - DMBT1 Thr1506Ser T1506S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - DOCK1 Thr803Ala T803A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10120 0.000889328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - FAM196A Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.534 - - 0 - 1 N - - GPR123 Gly35Trp G35W not reviewed Insufficiently evaluated not reviewed unknown Array rs74161994 65 7794 0.00833975 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK160367 Asn3Asp N3D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCGB1C1 Arg5His R5H not reviewed Insufficiently evaluated not reviewed unknown Array 107 10532 0.0101595 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF35 Arg223Gln R223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61329792 32 10748 0.0029773 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASSF7 Arg58Trp R58W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CDHR5 Ala367Thr A367T not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 1 - 0 N - - MUC2 Ala2336Val A2336V not reviewed Insufficiently evaluated not reviewed unknown Array rs72655343 52 10286 0.00505541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Pro2003Ser P2003S not reviewed Insufficiently evaluated not reviewed unknown Array 109 10440 0.0104406 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Thr3264Arg T3264R not reviewed Insufficiently evaluated not reviewed unknown Array rs73397853 1132 10436 0.108471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC5AC Gln4652His Q4652H not reviewed Insufficiently evaluated not reviewed unknown Array 537 9674 0.0555096 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DCHS1 Pro1961Leu P1961L not reviewed Insufficiently evaluated not reviewed unknown Array rs7109028 236 10758 0.0219372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - MRVI1 Arg504Ser R504S not reviewed Insufficiently evaluated not reviewed unknown Array 68 9784 0.00695012 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSPAN18 Gly261Glu G261E not reviewed Insufficiently evaluated not reviewed unknown Array rs7124137 484 10052 0.0481496 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR4C45 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFP91 Gly53Ala G53A not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM216 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array rs57932685 28 9862 0.00283918 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - KCNK4 Gly166Ser G166S not reviewed Insufficiently evaluated not reviewed unknown Array rs2232417 7745 8888 0.8714 7 0 12 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PLEKHB1 Gly194Shift G194Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - XRRA1 Arg718Trp R718W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10212 0.00127301 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - KLHL35 Gln259Glu Q259E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAT3 Arg3784His R3784H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10476 0.000381825 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 1 - 2 N - - KIAA1377 Arg5Gly R5G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - DYNC2H1 Met3663Val M3663V not reviewed Insufficiently evaluated not reviewed unknown Array 67 9828 0.00681726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DYNC2H1 Ile4222Leu I4222L not reviewed Insufficiently evaluated not reviewed unknown Array 9 9578 0.000939653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CWF19L2 Ile681Thr I681T not reviewed Insufficiently evaluated not reviewed unknown Array rs60957044 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALKBH8 Cys296Gly C296G not reviewed Insufficiently evaluated not reviewed unknown Array rs61743188 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 1 N - - OR10G4 Asp231Glu D231E not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC15 Ala680Val A680V not reviewed Insufficiently evaluated not reviewed unknown Array 43 9494 0.00452918 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 2 - 0 N - - FOXRED1 Lys40Del K40Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APLP2 HisProPhe603Del HPF603Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGSF9B Thr1277Ser T1277S not reviewed Insufficiently evaluated not reviewed unknown Array 43 9772 0.00440033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IGSF9B Val728Ile V728I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - CACNA2D4 His696Arg H696R not reviewed Insufficiently evaluated not reviewed unknown Array 135 10100 0.0133663 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CACNA2D4 Ile689Val I689V not reviewed Insufficiently evaluated not reviewed unknown Array 134 10092 0.0132778 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.289 - - -4 - 1 N - - AK056228 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array rs7305358 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_006611 Cys182Tyr C182Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34762634 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ENDOU Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73300693 43 10758 0.00399703 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_020941 Pro1087Leu P1087L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 7 Y 2 N - - AQP5 Leu174Ile L174I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.081 - - -2 - 0 N - - AX746911 Leu27Phe L27F not reviewed Insufficiently evaluated not reviewed unknown Array rs11833203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSAD Arg22Trp R22W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 7 Y 1 N - - OR6C4 Gln230Lys Q230K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - -2 - 2 N - - APOF Pro33Thr P33T not reviewed Insufficiently evaluated not reviewed unknown Array rs36058071 102 10446 0.0097645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VEZT Ser94Ala S94A not reviewed Insufficiently evaluated not reviewed unknown Array 12 9740 0.00123203 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - IKBIP Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF42 Ala146Ser A146S not reviewed Insufficiently evaluated not reviewed unknown Array 32 9634 0.00332157 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF42 Phe127Leu F127L not reviewed Insufficiently evaluated not reviewed unknown Array rs58399247 98 9600 0.0102083 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1H Arg831Cys R831C not reviewed Insufficiently evaluated not reviewed unknown Array rs60569210 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - CR626432 Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCN1L1 Asn1021Ser N1021S not reviewed Insufficiently evaluated not reviewed unknown Array rs61292062 66 9824 0.00671824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC43 Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array rs61732476 103 9854 0.0104526 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PITPNM2 GlyGlyGly620Del GGG620Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 112 0.0446429 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AB046765 Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array rs61744287 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK057244 Arg565Cys R565C not reviewed Insufficiently evaluated not reviewed unknown Array rs7327901 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 8 Y 2 N - - NEK5 Ala544Thr A544T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - NEK3 Arg259Gly R259G not reviewed Insufficiently evaluated not reviewed unknown Array rs34077016 47 9918 0.00473886 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR5AU1 Phe229Del F229Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACIN1 Glu281Del E281Del not reviewed Insufficiently evaluated not reviewed unknown Array rs57580458 7 114 0.0614035 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NYNRIN Ile1551Val I1551V not reviewed Insufficiently evaluated not reviewed unknown Array rs17103672 675 9866 0.0684168 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - RALGAPA1 Ser853Leu S853L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - L2HGDH Thr46Ile T46I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10146 0.00108417 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y - 3 - 1 N - - CCDC88C Leu637Val L637V not reviewed Insufficiently evaluated not reviewed unknown Array rs7160308 215 10290 0.0208941 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C14ORF139 Gly181Glu G181E not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF153 Pro14Arg P14R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK2 Ala5255Gly A5255G not reviewed Insufficiently evaluated not reviewed unknown Array rs56898675 31 10276 0.00301674 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - AHNAK2 Val3920Ala V3920A not reviewed Insufficiently evaluated not reviewed unknown Array 29 9750 0.00297436 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - AHNAK2 Pro2907Arg P2907R not reviewed Insufficiently evaluated not reviewed unknown Array 85 9590 0.0088634 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - AHNAK2 Ser2283Arg S2283R not reviewed Insufficiently evaluated not reviewed unknown Array 97 10022 0.00967871 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.138 - - 3 - 0 N - - AHNAK2 Val1816Met V1816M not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.043 - - 0 - 0 N - - AHNAK2 Pro1530Ser P1530S not reviewed Insufficiently evaluated not reviewed unknown Array 124 9764 0.0126997 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 3 - 0 N - - JAG2 Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array rs56753050 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM30A Thr28Lys T28K not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM30A Cys68Trp C68W not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MGA Ser1412Cys S1412C not reviewed Insufficiently evaluated not reviewed unknown Array rs59030804 27 9740 0.00277207 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - STARD9 Ile604Thr I604T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STARD9 Gly912Val G912V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STARD9 Ala2073Thr A2073T not reviewed Insufficiently evaluated not reviewed unknown Array rs61997204 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD9 Gln2208Leu Q2208L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753412 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1370 Ile458Val I458V not reviewed Insufficiently evaluated not reviewed unknown Array rs58950828 1 9524 0.000104997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MTFMT Arg266Cys R266C not reviewed Insufficiently evaluated not reviewed unknown Array rs35302908 87 9556 0.00910423 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - SLC24A1 Thr382Met T382M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10364 9.6487e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SNAPC5 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPL4 Leu396Val L396V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741879 20 10742 0.00186185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Pro1315Ser P1315S not reviewed Insufficiently evaluated not reviewed unknown Array 17 9542 0.0017816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLIN1 Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array rs58361219 71 10658 0.00666166 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNM Arg487Trp R487W not reviewed Insufficiently evaluated not reviewed unknown Array rs35941047 77 10002 0.00769846 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNM His1326Tyr H1326Y not reviewed Insufficiently evaluated not reviewed unknown Array 80 10256 0.00780031 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001040615 Ile541Val I541V not reviewed Insufficiently evaluated not reviewed unknown Array rs12915007 229 10758 0.0212865 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - CHTF18 Glu233Lys E233K not reviewed Insufficiently evaluated not reviewed unknown Array 83 9870 0.00840932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - TELO2 Ser347Thr S347T not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - NLRC3 Ala683Thr A683T not reviewed Insufficiently evaluated not reviewed unknown Array 23 9968 0.00230738 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SLX4 Gly141Val G141V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 8 Y 0 N - - SMG1 Leu104Tyr L104Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VWA3A Ser156Arg S156R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF82 Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPEP3 Leu304Val L304V not reviewed Insufficiently evaluated not reviewed unknown Array rs57136942 159 10758 0.0147797 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCO7 Thr853Arg T853R not reviewed Insufficiently evaluated not reviewed unknown Array rs61730958 111 9776 0.0113543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 3 - 2 N - - PDPR Tyr58His Y58H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDPR Arg809Cys R809C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDH13 Leu643Arg L643R not reviewed Insufficiently evaluated not reviewed unknown Array rs34106627 42 9894 0.004245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - USP10 Ser319Asn S319N not reviewed Insufficiently evaluated not reviewed unknown Array 90 10004 0.0089964 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK126852 Gln24Arg Q24R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF469 Val1619Met V1619M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - ZNF469 Gly2116Asp G2116D not reviewed Insufficiently evaluated not reviewed unknown Array rs56704016 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 4 Y 1 N - - CTU2 His257Gln H257Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73262667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - -1 - 0 N - - BC160930 Cys145Trp C145W not reviewed Insufficiently evaluated not reviewed unknown Array 2 32 0.0625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC160930 Phe149Ser F149S not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF3 Ala45Gly A45G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10754 0.00139483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM7 Asn126Tyr N126Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 9610 0.000832466 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA0664 Ala1132Val A1132V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750787 41 9962 0.00411564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - AK310981 Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SREBF1 Pro250Ser P250S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AL359623 Val79Gly V79G not reviewed Insufficiently evaluated not reviewed unknown Array rs2530875 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRCIN1 Ala236Ser A236S not reviewed Insufficiently evaluated not reviewed unknown Array 81 10518 0.00770108 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDK12 Leu1189Gln L1189Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56362165 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GSDMA Gly200Asp G200D not reviewed Insufficiently evaluated not reviewed unknown Array 60 10016 0.00599041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 4 Y 0 N - - KRT24 Gln145His Q145H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - KRTAP1-1 Val135Met V135M not reviewed Insufficiently evaluated not reviewed unknown Array 80 10230 0.00782014 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 0 - 1 N - - KRTAP2-2 Gly16Ala G16A not reviewed Insufficiently evaluated not reviewed unknown Array rs36006291 10 2908 0.00343879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HAP1 Ala557Val A557V not reviewed Insufficiently evaluated not reviewed unknown Array rs34853043 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - NR_002773 Arg222Gln R222Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AF047486 Tyr40Ser Y40S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_175882 Ser601Phe S601F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 5 Y 2 N - - CDK5RAP3 Arg228Trp R228W not reviewed Insufficiently evaluated not reviewed unknown Array rs61753863 78 10338 0.00754498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CCDC45 Met165Ile M165I not reviewed Insufficiently evaluated not reviewed unknown Array rs9910506 88 9726 0.00904791 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - AL833315 Glu282Lys E282K not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - NM_001001685 Thr143Pro T143P not reviewed Insufficiently evaluated not reviewed unknown Array 58 6078 0.00954261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH17 Pro237Thr P237T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK057217 Leu38Phe L38F not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC008248 Trp50Ser W50S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AATK Arg1250Gln R1250Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - TBCD Asp353Asn D353N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10394 0.000865884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - KIAA0802 Arg609Cys R609C not reviewed Insufficiently evaluated not reviewed unknown Array 33 10336 0.00319272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC042085 Thr75Ile T75I not reviewed Insufficiently evaluated not reviewed unknown Array rs58500375 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLI Ile261Leu I261L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GRP Ser66Ile S66I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF407 Arg429Gln R429Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 9758 0.00061488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.709 - - 0 - 1 N - - ZNF407 Pro508Leu P508L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10210 0.00176298 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SHC2 Glu324Gly E324G not reviewed Insufficiently evaluated not reviewed unknown Array 40 9672 0.00413565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - ARID3A Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array 64 9340 0.00685225 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP8B3 Pro1239Leu P1239L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9946 0.000502714 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLIN4 Ala974Thr A974T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10560 0.00189394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLIN4 Leu851Phe L851F not reviewed Insufficiently evaluated not reviewed unknown Array 5 9818 0.000509268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Ala727Val A727V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10170 0.000196656 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC137015 Val47Leu V47L not reviewed Insufficiently evaluated not reviewed unknown Array rs8103849 7 40 0.175 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1543 Glu675Arg E675R not reviewed Insufficiently evaluated not reviewed unknown Array rs59573618 2 116 0.0172414 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Thr6361Ile T6361I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750932 37 9762 0.00379021 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Met2688Ile M2688I not reviewed Insufficiently evaluated not reviewed unknown Array 42 9950 0.00422111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 Leu79Ser L79S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10040 0.00378486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK6 Arg666His R666H not reviewed Insufficiently evaluated not reviewed unknown Array 79 9858 0.0080138 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF208 Asp701Gly D701G not reviewed Insufficiently evaluated not reviewed unknown Array 333 10438 0.0319027 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF257 Glu490Lys E490K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10506 0.000856653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMKN Gly284SerSerSerGlySer G284SSSGS not reviewed Insufficiently evaluated not reviewed unknown Array rs12981076 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LTBP4 Met548Val M548V not reviewed Insufficiently evaluated not reviewed unknown Array 49 10422 0.00470159 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2A6 Thr258Lys T258K not reviewed Insufficiently evaluated not reviewed unknown Array rs58720852 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.802 - - 3 - 1 N - - AK310944 Tyr226His Y226H not reviewed Insufficiently evaluated not reviewed unknown Array rs73557108 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP2B6 AspArg28GlyThr DR28GT not reviewed Insufficiently evaluated not reviewed unknown Array rs33980385 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK094504 Pro144Ser P144S not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRKD2 Ser604Gly S604G not reviewed Insufficiently evaluated not reviewed unknown Array rs34325043 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - GLTSCR2 Asp401Ala D401A not reviewed Insufficiently evaluated not reviewed unknown Array 41 5694 0.00720056 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 5 Y 1 N - - CCDC114 Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array 2 50 0.04 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK097351 Gly8Val G8V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CTU1 Ala107Val A107V not reviewed Insufficiently evaluated not reviewed unknown Array rs17855403 470 4962 0.0947199 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NKG7 Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array rs34131521 196 10758 0.018219 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - AK054965 Ala193Val A193V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF808 Lys134Asn K134N not reviewed Insufficiently evaluated not reviewed unknown Array rs41340153 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF816 Arg332His R332H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBE2S Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC112197 Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK094748 Glu24Lys E24K not reviewed Insufficiently evaluated not reviewed unknown Array rs16988362 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC010118 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADI1 Gln3Glu Q3E not reviewed Insufficiently evaluated not reviewed unknown Array 10 9540 0.00104822 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - FAM179A Arg754His R754H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - CAPN14 Asn136Ser N136S not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRKCE Leu106Pro L106P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 7 Y 2 N - - VAX2 Gly19Ser G19S not reviewed Insufficiently evaluated not reviewed unknown Array rs61275549 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TET3 Pro510Leu P510L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10096 0.00485341 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - TEKT4 His53Arg H53R not reviewed Insufficiently evaluated not reviewed unknown Array 2 80 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - TEKT4 Arg66Leu R66L not reviewed Insufficiently evaluated not reviewed unknown Array rs33937079 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - TEKT4 Leu144Met L144M not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - INPP4A Arg260Trp R260W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - ZRANB3 Arg914His R914H not reviewed Insufficiently evaluated not reviewed unknown Array 26 9946 0.00261412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ZRANB3 Cys877Tyr C877Y not reviewed Insufficiently evaluated not reviewed unknown Array 25 9736 0.00256779 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.78 - - 6 Y 1 N - - BC132926 Cys70Del C70Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DYNC1I2 Gly134Ala G134A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9528 0.000524769 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - 1 - 0 N - - AX747372 Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BZW1 Met90Ile M90I not reviewed Insufficiently evaluated not reviewed unknown Array 12 9906 0.00121139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 0 N - - MPP4 Arg384Cys R384C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10364 0.000771902 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.448 - - 8 Y 1 N - - ZDBF2 Tyr251Cys Y251C not reviewed Insufficiently evaluated not reviewed unknown Array rs59158496 132 9524 0.0138597 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - ZDBF2 Met315Ile M315I not reviewed Insufficiently evaluated not reviewed unknown Array rs58488107 131 9480 0.0138186 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.913 - - -1 - 2 N - - ZDBF2 Met364Ile M364I not reviewed Insufficiently evaluated not reviewed unknown Array rs58649882 135 9632 0.0140158 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.963 - - -1 - 2 N - - SPEG Pro534Leu P534L not reviewed Insufficiently evaluated not reviewed unknown Array 1 42 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STK11IP Gln541His Q541H not reviewed Insufficiently evaluated not reviewed unknown Array 216 10358 0.0208534 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - -1 - 2 N - - ITM2C Pro28Ser P28S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10 0.1 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - TSPY26P Ile188Val I188V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.581 - - -4 - 1 N - - ASXL1 Ser1165Arg S1165R not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - 3 - 1 N - - C20ORF132 Asp560Asn D560N not reviewed Insufficiently evaluated not reviewed unknown Array rs35287749 7 128 0.0546875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - C20ORF177 Ile122Phe I122F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF177 Tyr141Phe Y141F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC049386 Ala102Ser A102S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C21ORF105 Gln132Glu Q132E not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP10-6 Asp36Ala D36A not reviewed Insufficiently evaluated not reviewed unknown Array 165 10038 0.0164375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP10-7 Tyr124Cys Y124C not reviewed Insufficiently evaluated not reviewed unknown Array rs233308 9 10730 0.000838769 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CU013362 Leu163Phe L163F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGLV2-14 Leu73Pro L73P not reviewed Insufficiently evaluated not reviewed unknown Array rs61996351 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC040190 Glu42Asp E42D not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AJ318021 Cys10Trp C10W not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SUSD2 Ala91Ser A91S not reviewed Insufficiently evaluated not reviewed unknown Array rs399140 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - MYO18B Arg2199Gln R2199Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 9852 0.00233455 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - TBC1D10A Pro354Leu P354L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIOBP Asn591Ser N591S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10030 0.00109671 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - SUN2 Pro458Ser P458S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PNPLA5 Thr28Ser T28S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - -2 - 2 N - - C22ORF26 Glu135Ala E135A not reviewed Insufficiently evaluated not reviewed unknown Array 29 5088 0.00569968 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PANX2 Arg643Cys R643C not reviewed Insufficiently evaluated not reviewed unknown Array 56 10740 0.00521415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TOP2B Thr1563Ala T1563A not reviewed Insufficiently evaluated not reviewed unknown Array rs17016865 192 9662 0.0198717 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LTF Ile324Phe I324F not reviewed Insufficiently evaluated not reviewed unknown Array 31 10750 0.00288372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - PRSS50 Arg239Cys R239C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740484 60 10756 0.00557828 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 8 Y 0 N - - PRSS45 Thr103Asn T103N not reviewed Insufficiently evaluated not reviewed unknown Array 56 10540 0.00531309 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR591987 Arg142His R142H not reviewed Insufficiently evaluated not reviewed unknown Array rs57768168 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFRD2 Thr9Lys T9K not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - RAD54L2 Phe1261Leu F1261L not reviewed Insufficiently evaluated not reviewed unknown Array rs35712917 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD4B His91Tyr H91Y not reviewed Insufficiently evaluated not reviewed unknown Array 92 9546 0.00963754 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GXYLT2 Ile175Val I175V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741328 284 9660 0.0293996 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.3 - - -4 - 1 N - - ZNF717 Gly607Glu G607E not reviewed Insufficiently evaluated not reviewed unknown Array rs13314309 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HHLA2 Ile40Met I40M not reviewed Insufficiently evaluated not reviewed unknown Array rs58233893 62 9618 0.00644625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.171 - - -1 - 0 N - - SPICE1 Asn843Lys N843K not reviewed Insufficiently evaluated not reviewed unknown Array rs58193594 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SPICE1 Thr824Pro T824P not reviewed Insufficiently evaluated not reviewed unknown Array rs57006145 287 10758 0.0266778 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.803 - - 4 Y 1 N - - CCDC14 Arg369Gln R369Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL6A5 Gly1440Glu G1440E not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TOPBP1 Thr461Ser T461S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SOX14 Gly109Ser G109S not reviewed Insufficiently evaluated not reviewed unknown Array rs56809445 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - LRRIQ4 Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array rs61754894 38 10328 0.00367932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MAGEF1 Leu67Val L67V not reviewed Insufficiently evaluated not reviewed unknown Array rs6770319 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - MUC4 Leu1793Pro L1793P not reviewed Insufficiently evaluated not reviewed unknown Array 105 3230 0.0325077 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF718 Glu31Lys E31K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF718 Gly251Glu G251E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF721 Cys59Phe C59F not reviewed Insufficiently evaluated not reviewed unknown Array 81 10364 0.00781551 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DOK7 Gln43His Q43H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - OTOP1 Met284Val M284V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10 0.4 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.304 - - 0 - 0 N - - ABLIM2 Glu494Lys E494K not reviewed Insufficiently evaluated not reviewed unknown Array rs57633755 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC035074 Ser21Ala S21A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMPRSS11F Ala235Ser A235S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.206 - - -1 - 1 N - - FRAS1 Val496Ala V496A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FRAS1 Thr954Met T954M not reviewed Insufficiently evaluated not reviewed unknown Array rs17003166 30 9864 0.00304136 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FRAS1 Asp2543Asn D2543N not reviewed Insufficiently evaluated not reviewed unknown Array rs4388111 4 128 0.03125 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PTPN13 Leu473Phe L473F not reviewed Insufficiently evaluated not reviewed unknown Array 58 9688 0.00598679 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - PTPN13 Thr2166Ala T2166A not reviewed Insufficiently evaluated not reviewed unknown Array 46 9488 0.00484823 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF38 Arg118Gly R118G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 6 Y 1 N - - PABPC4L Met349Val M349V not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELF2 Gly520Val G520V not reviewed Insufficiently evaluated not reviewed unknown Array 2 86 0.0232558 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM198B Thr2Ile T2I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10742 0.000558555 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - FAT1 Arg1795Gln R1795Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56790426 69 10018 0.0068876 4 0 5 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - TUBB4Q Thr367Ile T367I not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUBB4Q Val364Ala V364A not reviewed Insufficiently evaluated not reviewed unknown Array 4 118 0.0338983 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDZD2 AlaAsnAla1903Del ANA1903Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FYB Ser386Phe S386F not reviewed Insufficiently evaluated not reviewed unknown Array rs60485725 30 10238 0.00293026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HEATR7B2 Leu406Phe L406F not reviewed Insufficiently evaluated not reviewed unknown Array 66 9668 0.00682664 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CMYA5 Met2782Leu M2782L not reviewed Insufficiently evaluated not reviewed unknown Array 81 9598 0.00843926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - -3 - 2 N - - CMYA5 Asp3147Tyr D3147Y not reviewed Insufficiently evaluated not reviewed unknown Array 82 9630 0.00851506 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRPM2 Arg12Pro R12P not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGEF37 Leu323Met L323M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.253 - - -3 - 1 N - - ZNF300P1 Phe41Leu F41L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAT2 Thr3942Ser T3942S not reviewed Insufficiently evaluated not reviewed unknown Array rs60050170 171 10758 0.0158951 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPP1R2P3 His166Arg H166R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - PWWP2A Gly21Cys G21C not reviewed Insufficiently evaluated not reviewed unknown Array 31 5736 0.00540446 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDHR2 Leu842Val L842V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM153A Leu208Pro L208P not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001080544 Ala61Val A61V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX748230 Leu11Val L11V not reviewed Insufficiently evaluated not reviewed unknown Array rs73365905 344 10758 0.0319762 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_207582 Val483Ile V483I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - AX747210 Ser77Phe S77F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM65B Glu495Lys E495K not reviewed Insufficiently evaluated not reviewed unknown Array rs35514577 191 9828 0.0194343 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM31 Leu235Pro L235P not reviewed Insufficiently evaluated not reviewed unknown Array rs35775852 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - HLA-C ProLeu217LeuVal PL217LV not reviewed Insufficiently evaluated not reviewed unknown Array rs1050716 6 82 0.0731707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRRC2A Pro2130Leu P2130L not reviewed Insufficiently evaluated not reviewed unknown Array rs1046756 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_021160 Asn249Asp N249D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNXB Ala1521Val A1521V not reviewed Insufficiently evaluated not reviewed unknown Array 24 6850 0.00350365 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - TNXB Val875Ile V875I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10568 0.000378501 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - HLA-DQB2 Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF138 Ile702Thr I702T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DST Asn2524His N2524H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1009 Gly692Glu G692E not reviewed Insufficiently evaluated not reviewed unknown Array 48 10754 0.00446346 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - PRDM1 Tyr345His Y345H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC107113 Gln71Arg Q71R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - BC107113 Val105Gly V105G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 8 Y 2 N - - GSTM2P1 Asn51Ser N51S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK225233 Met132Ile M132I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARID1B Gly895Ser G895S not reviewed Insufficiently evaluated not reviewed unknown Array rs34786733 66 10750 0.00613953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FNDC1 Pro1246Arg P1246R not reviewed Insufficiently evaluated not reviewed unknown Array 31 9910 0.00312815 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - WDR27 Ser436Leu S436L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10034 0.00338848 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SUN1 His295Arg H295R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0415 Arg337Gln R337Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - ZNF815 Gln82His Q82H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK027618 Ser171Thr S171T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK027618 Ser167Phe S167F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ISPD Ser19Arg S19R not reviewed Insufficiently evaluated not reviewed unknown Array rs7782939 762 4396 0.173339 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DNAH11 Ser589Thr S589T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - CLK2P Leu232Pro L232P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC087859 Arg126Leu R126L not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WIPF3 Thr424Met T424M not reviewed Insufficiently evaluated not reviewed unknown Array 10 9854 0.00101482 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - CDC14C Gln212Del Q212Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC14C Glu391Lys E391K not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_002789 Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001039487 Arg78Lys R78K not reviewed Insufficiently evaluated not reviewed unknown Array rs443152 4 100 0.04 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCLO Leu1248Pro L1248P not reviewed Insufficiently evaluated not reviewed unknown Array rs61995907 9 9512 0.000946173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC17 Gly2828Ser G2828S not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMID2 Pro231Gln P231Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM71F2 Cys183Gly C183G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_002144 Pro127Leu P127L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_002144 Ala135Asp A135D not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EEF1G Arg69Cys R69C not reviewed Insufficiently evaluated not reviewed unknown Array rs10263004 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1549 Val1500Ile V1500I not reviewed Insufficiently evaluated not reviewed unknown Array 64 10242 0.00624878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1147 His344Asp H344D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 3 - 0 N - - NM_001126313 Val31Ile V31I not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF746 Ser499Asn S499N not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASB10 Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array 7 118 0.059322 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C8ORF74 Ala290Val A290V not reviewed Insufficiently evaluated not reviewed unknown Array rs61742897 380 10182 0.0373208 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCM1 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - KIF13B Asn1274Ser N1274S not reviewed Insufficiently evaluated not reviewed unknown Array rs36068949 91 10448 0.0087098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - TRPA1 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10746 0.00158198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNBD1 Tyr332Cys Y332C not reviewed Insufficiently evaluated not reviewed unknown Array 15 9120 0.00164474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - NACAP1 Leu122Trp L122W not reviewed Insufficiently evaluated not reviewed unknown Array rs73284102 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKHD1L1 Lys2074Arg K2074R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10452 0.00200918 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -3 - 0 N - - SYBU Val259Ile V259I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10006 9.994e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - FER1L6 Leu238Ser L238S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFR3A Pro715Ser P715S not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - HHLA1 Pro81Ser P81S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHPN1 Ala578Thr A578T not reviewed Insufficiently evaluated not reviewed unknown Array rs34746679 86 10502 0.00818892 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Arg2214His R2214H not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Asp2072His D2072H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATC1 Gly146Arg G146R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DGAT1 Ser270Phe S270F not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - C8ORF77 His83Tyr H83Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6989348 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA2026 Cys70Ser C70S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10344 0.000386697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - FBP2 Stop340Trp X340W not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FKBP15 Ser303Thr S303T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10148 0.00660229 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - -2 - 1 N - - COL27A1 Arg1348Gln R1348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1631319 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1L4 Lys23Gln K23Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58159408 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DENND1A Met838Leu M838L not reviewed Insufficiently evaluated not reviewed unknown Array 24 9594 0.00250156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -3 - 0 N - - GOLGA2 Asn945Asp N945D not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COQ4 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9697215 465 10168 0.0457317 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - AL834139 Pro176Ser P176S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_013318 Ala1497Ser A1497S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10054 0.0034812 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXW5 Gly4Asp G4D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 4 Y 0 N - - C9ORF142 Gly14Asp G14D not reviewed Insufficiently evaluated not reviewed unknown Array 44 3820 0.0115183 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA2 Arg903His R903H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPRN Pro145Leu P145L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR85 Arg40Gln R40Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 8924 0.00268938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CACNA1B Thr2030Ser T2030S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10584 0.0010393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC018860 Trp22Arg W22R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AF391805 Cys92Tyr C92Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28357685 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AF391805 Asp128Asn D128N not reviewed Insufficiently evaluated not reviewed unknown Array rs28357368 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AF391805 Ser131Asn S131N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AF391805 Cys160Arg C160R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AKAP17A Val512Met V512M not reviewed Insufficiently evaluated not reviewed unknown Array rs56794981 117 10746 0.0108878 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - SHROOM2 Gly1285Val G1285V not reviewed Insufficiently evaluated not reviewed unknown Array 77 8752 0.00879799 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - SMEK3P Ile107Val I107V not reviewed Insufficiently evaluated not reviewed unknown Array rs58530379 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM47C Pro668Leu P668L not reviewed Insufficiently evaluated not reviewed unknown Array 4 8654 0.000462214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DGKK Arg851Cys R851C not reviewed Insufficiently evaluated not reviewed unknown Array 143 7700 0.0185714 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DGKK Ile612Asn I612N not reviewed Insufficiently evaluated not reviewed unknown Array 162 8260 0.0196126 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHF8 Ser933Del S933Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FXYD8 Pro51Leu P51L not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 1 N - - NM_001127438 Glu114Gly E114G not reviewed Insufficiently evaluated not reviewed unknown Array rs73560306 3 92 0.0326087 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CXORF40B Ala112Val A112V not reviewed Insufficiently evaluated not reviewed unknown Array rs11987 81 8754 0.00925291 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEA4 Ser44Del S44Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 86 0.0232558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RENBP Ala270Asp A270D not reviewed Insufficiently evaluated not reviewed unknown Array 4 92 0.0434783 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VAMP7 Asn77Thr N77T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL9R Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array rs2228650 4 59 0.0677966 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NPHP4 Glu399Gly E399G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.489 Y - 6 Y 2 N - - WDR65 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NBPF7 Gln203Stop Q203X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG Gly1109Shift G1109Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TDRD5 Asn663Shift N663Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DHX9 Lys592Shift K592Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C1ORF227 Arg37Stop R37X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRIM11 Arg199Shift R199Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GATA3 Ser237Shift S237Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - RET Ala680Thr A680T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 1 - 4 N - - CHAT Ser237Arg S237R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 3 - 2 N - - CDH23 Phe3122Leu F3122L not reviewed Insufficiently evaluated not reviewed unknown Array rs45583140 256 9994 0.0256154 7 0 7 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL17A1 Thr902Ser T902S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ADAM8 Met548Shift M548Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNPLA2 Ser288Trp S288W not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.386 Y - 7 Y 2 N - - OR52M1 Phe14Shift F14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RASSF10 Asp488Shift D488Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 32 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC156059 Leu976Stop L976X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR5T3 Tyr308Shift Y308Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF9 Gln969Shift Q969Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RNASEH2C Lys90Del K90Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - C11ORF82 Ile838Shift I838Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KDELC2 Arg310Shift R310Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SIAE Asn352Shift N352Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1C Thr1918Met T1918M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10070 0.00119166 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - KCNA5 Gly383Shift G383Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HIST4H4 Gly29Shift G29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGD4 Ser244Leu S244L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.504 Y Y 6 Y 3 N - - SRSF2IP Asn1461Shift N1461Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAJC14 Asp370Shift D370Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACSS3 Ser478Shift S478Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GJB2 Glu114Gly E114G not reviewed Insufficiently evaluated not reviewed unknown Array rs2274083 7 10758 0.000650678 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FREM2 Leu38LeuLeu L38LL not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - AKAP11 Ser300Shift S300Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLN5 Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CLYBL Arg259Stop R259X not reviewed Insufficiently evaluated not reviewed unknown Array rs41281112 221 10758 0.0205429 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ALKBH1 Arg344Stop R344X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OCA2 Lys155Leu K155L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FMN1 Pro649Ser P649S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10088 0.000693893 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - SPG11 Ile450Val I450V not reviewed Insufficiently evaluated not reviewed unknown Array rs3759873 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - AX747619 Gly62Shift G62Shift not reviewed Insufficiently evaluated not reviewed unknown Array 11 84 0.130952 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP1A1 Pro492Arg P492R not reviewed Insufficiently evaluated not reviewed unknown Array rs28399430 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 Y - 5 Y 2 N - - PKD1 Ala4284Thr A4284T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BFAR Leu422Shift L422Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACSM2A Arg115Stop R115X not reviewed Insufficiently evaluated not reviewed unknown Array rs59261767 30 10758 0.00278862 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VWA3A Gln39Stop Q39X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LCAT Pro426Arg P426R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - DPEP2 Thr31Shift T31Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COG8 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ZFPM1 Gln296Shift Q296Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG7 Ile219Thr I219T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 3 - 2 N - - BC160930 Ala61Shift A61Shift not reviewed Insufficiently evaluated not reviewed unknown Array 7 34 0.205882 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH9 Lys1022Shift K1022Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNFRSF13B Ala213Thr A213T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10728 9.3214e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.038 Y Y 1 - 2 N - - MYO15A Pro1009His P1009H not reviewed Insufficiently evaluated not reviewed unknown Array 16 9754 0.00164035 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - AF047486 Tyr17Shift Y17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TCEB3B Lys572Shift K572Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3833182 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ST8SIA3 Val265Shift V265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX747577 Leu14Shift L14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 88 0.0681818 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AP1M2 Arg357Stop R357X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MAN2B1 Arg998His R998H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - MAN2B1 Ala250Ser A250S not reviewed Insufficiently evaluated not reviewed unknown Array rs3745650 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -1 - 2 N - - OR10H4 Trp150Stop W150X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRX Pro655Leu P655L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.793 Y Y 7 Y 3 N - - MEGF8 Ser1978Shift S1978Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSEN34 Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - ZNF544 Ser691Shift S691Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM84A Gly201Shift G201Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 74 0.0810811 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POMC Asn256Shift N256Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ABCG8 Arg405Cys R405C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - ZNF638 Gln1202Shift Q1202Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DYSF Leu556Pro L556P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 7 Y 2 N - - SFTPB Gly183Arg G183R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 6 Y 1 N - - GLI2 Leu697Met L697M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg3388Gln R3388Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DIRC1 Trp95Shift W95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA12 Ser325Phe S325F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 5 Y 2 N - - AGXT Ala186Val A186V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 2 - 2 N - - AGXT Arg197Gln R197Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34664134 7 10758 0.000650678 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NINL Ser1381Shift S1381Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C20ORF173 Arg36Stop R36X not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BPI Gln51Shift Q51Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PTPN1 Glu132Shift E132Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYCP2 Asn1024Shift N1024Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAB36 Arg215Shift R215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EFCAB6 Gln1340Shift Q1340Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3833393 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC54 Met217Shift M217Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSPBAP1 Arg476Shift R476Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BOD1L Asn379Shift N379Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MFSD8 Gly385Arg G385R not reviewed Insufficiently evaluated not reviewed unknown Array rs11098943 14 10758 0.00130136 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 6 Y 2 N - - GHR Pro495Thr P495T not reviewed Insufficiently evaluated not reviewed unknown Array rs6183 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.879 Y - 4 Y 3 N - - FLT4 Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y -4 - 2 N - - DSP Gln90Arg Q90R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.955 Y Y 0 - 4 N - - GMPR Lys325Shift K325Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-DQA1 Gly79Del G79Del not reviewed Insufficiently evaluated not reviewed unknown Array rs9279909 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - AHI1 Glu1086Gly E1086G not reviewed Insufficiently evaluated not reviewed unknown Array 1 9720 0.00010288 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 6 Y 4 N - - AK027618 Gln809Shift Q809Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM126A Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.396 Y Y 0 - 3 N - - PGAM2 Gly148Arg G148R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 6 Y 1 N - - LSM1 Tyr56Shift Y56Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYST3 Lys1266Shift K1266Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EXT1 Ala486Val A486V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - WNK3 Ala406Shift A406Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HMGN5 Asn125Shift N125Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HTATSF1 Asp652Shift D652Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGRN Gln852Arg Q852R not reviewed Insufficiently evaluated not reviewed unknown Array rs9697293 268 10756 0.0249163 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.08 Y - 0 - 1 N - - ATAD3B Lys573Met K573M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 4 Y 1 N - - KIAA0562 Gly855Glu G855E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 6 Y 1 N - - C1ORF167 Val449Ala V449A not reviewed Insufficiently evaluated not reviewed unknown Array rs55867221 6 126 0.047619 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASAP3 Glu81Asp E81D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - ARID1A Gly1016Ser G1016S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARID1A Ala1872Val A1872V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MAP3K6 Ala427Val A427V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 2 - 1 N - - AL157420 Val93Met V93M not reviewed Insufficiently evaluated not reviewed unknown Array rs2292164 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNC Glu21Ala E21A not reviewed Insufficiently evaluated not reviewed unknown Array rs3795424 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM54 Leu205Val L205V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A9 Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10706 9.3405e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTCH2 Ala371Thr A371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC5A9 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746559 3 128 0.0234375 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC5A9 Met225Thr M225T not reviewed Insufficiently evaluated not reviewed unknown Array rs12047252 3 128 0.0234375 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC5A9 Ala662Glu A662E not reviewed Insufficiently evaluated not reviewed unknown Array rs12040115 3 128 0.0234375 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDCP2 Tyr79His Y79H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -1 - 0 N - - KANK4 Ala987Val A987V not reviewed Insufficiently evaluated not reviewed unknown Array rs34591898 204 10758 0.0189626 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - C1ORF173 Gly1435Arg G1435R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLCA4 Met449Leu M449L not reviewed Insufficiently evaluated not reviewed unknown Array rs1011048 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CDC7 Lys441Arg K441R not reviewed Insufficiently evaluated not reviewed unknown Array rs13447539 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - CELSR2 Ala384Ser A384S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GNAT2 Leu107Ile L107I not reviewed Insufficiently evaluated not reviewed unknown Array rs3738766 190 10758 0.0176613 5 0 5 0 0 - - - - - - - - - - - - Y - - - 0.704 - Y -2 - 2 N - - SLC6A17 Thr629Met T629M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM15 Tyr336Cys Y336C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CHI3L2 Ile307Val I307V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - ATP5F1 Ile150Val I150V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - ST7L Arg376Met R376M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - AP4B1 Thr717Met T717M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.406 - - 2 - 1 N - - C1ORF161 Thr338Ala T338A not reviewed Insufficiently evaluated not reviewed unknown Array 233 10758 0.0216583 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD101 Arg833His R833H not reviewed Insufficiently evaluated not reviewed unknown Array rs2274254 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANKRD35 Cys194Arg C194R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TCHH Arg1822Leu R1822L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLG2 Gly926Ser G926S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLG2 His918Gly H918G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FLG2 His900Tyr H900Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLG2 Gly892Ser G892S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10686 0.000374321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLG2 Ser869Thr S869T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLG2 Thr868ThrPheGlyPheGlyGlnHisArgSerGlySerGlyGlnSer T868TFGFGQHRSGSGQS not reviewed Insufficiently evaluated not reviewed unknown Array rs12724005 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - S100A7 Thr4Pro T4P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - NPR1 Ala982Pro A982P not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - SLC27A3 Gly450Arg G450R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - DCST2 Gly13Arg G13R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 6 Y 0 N - - MTX1 Lys243Gln K243Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLK2 Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CCT3 Arg167Trp R167W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 7 Y 2 N - - BCAN Ala899Thr A899T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - MRPL24 Thr61Met T61M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ETV3L Arg299Lys R299K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -3 - 0 N - - KIRREL Thr170Met T170M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 2 - 2 N - - CD1C Phe300Ser F300S not reviewed Insufficiently evaluated not reviewed unknown Array rs3138105 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR10T2 Ile50Thr I50T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - MNDA His357Tyr H357Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2276403 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.757 - - -1 - 1 N - - FCER1A Lys84Arg K84R not reviewed Insufficiently evaluated not reviewed unknown Array rs2298804 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DUSP27 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 2 - 2 N - - SFT2D2 Leu4Met L4M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.248 - - -3 - 1 N - - C1ORF129 Thr425Met T425M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOC Asp208Glu D208E not reviewed Insufficiently evaluated not reviewed unknown Array rs2234927 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ANKRD45 Glu144Gly E144G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAPPA2 Val584Met V584M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.491 - - 0 - 1 N - - SEC16B Ile716Thr I716T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOR3A Thr298Met T298M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.805 - - 2 - 1 N - - AL136902 Trp291Cys W291C not reviewed Insufficiently evaluated not reviewed unknown Array rs647224 14 128 0.109375 8 0 10 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - PRG4 Pro503Thr P503T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - NM_019049 Met161Val M161V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4BPA Met556Thr M556T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - PLXNA2 Ala805Gly A805G not reviewed Insufficiently evaluated not reviewed unknown Array rs17011882 150 10756 0.0139457 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATF3 Ala61Val A61V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CENPF Ser2302Asn S2302N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR5 Thr856Ile T856I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - OBSCN Val1930Met V1930M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - C1ORF101 Ala3Asp A3D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF496 Gly338Ser G338S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10276 0.000194628 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 2 - 2 N - - OR2L8 Phe199Leu F199L not reviewed Insufficiently evaluated not reviewed unknown Array 365 10752 0.0339472 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.804 - - 0 - 1 N - - OR2L8 Ser214Ala S214A not reviewed Insufficiently evaluated not reviewed unknown Array rs116805875 11 10758 0.00102249 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2L8 Gln219Arg Q219R not reviewed Insufficiently evaluated not reviewed unknown Array 4 108 0.037037 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF692 Ser401Gly S401G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 2 - 2 N - - ASB13 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITIH5 Pro222Leu P222L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 7 Y 0 N - - ECHDC3 Pro45Leu P45L not reviewed Insufficiently evaluated not reviewed unknown Array 1 36 0.0277778 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.571 - - 7 Y 1 N - - TRDMT1 Glu362Asp E362D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - YME1L1 Gln103Leu Q103L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BMS1 Arg237His R237H not reviewed Insufficiently evaluated not reviewed unknown Array rs2272881 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBP3 Gly967Ser G967S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - RBP3 Val884Met V884M not reviewed Insufficiently evaluated not reviewed unknown Array rs11204213 4 10754 0.000371954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - C10ORF72 Glu150Lys E150K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMJD1C GlyLeu1158Del GL1158Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - JMJD1C Lys637Arg K637R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - ADAMTS14 Gly114Arg G114R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - UNC5B Ile558Met I558M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - UNC5B Met889Ile M889I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - CBARA1 Lys75Arg K75R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AX747983 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF20B Arg301Cys R301C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KIF20B Ser1035Asn S1035N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGFBP3 Pro194Leu P194L not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - MMS19 Gln434Glu Q434E not reviewed Insufficiently evaluated not reviewed unknown Array rs29001314 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AVPI1 Ala70Asp A70D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 5 Y 2 N - - CUTC Cys223Gly C223G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 7 Y 1 N - - ABCC2 Ala1450Ser A1450S not reviewed Insufficiently evaluated not reviewed unknown Array rs56296335 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.971 Y - -1 - 3 N - - FBXW4 Ala3Pro A3P not reviewed Insufficiently evaluated not reviewed unknown Array 3 5448 0.00055066 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TMEM180 Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CCDC147 Gly360Glu G360E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - SORCS1 Ala425Thr A425T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.758 - - 1 - 1 N - - VWA2 Arg695Trp R695W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.862 - - 7 Y 2 N - - DMBT1 Ser968Trp S968W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTBP2 Thr306Met T306M not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCCIP Ser267Leu S267L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 6 Y 1 N - - C10ORF92 AsnThr268ThrAla NT268TA not reviewed Insufficiently evaluated not reviewed unknown Array 2 28 0.0714286 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PKP3 Arg790Trp R790W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - MUC2 Thr1560Pro T1560P not reviewed Insufficiently evaluated not reviewed unknown Array rs62637244 4 8 0.5 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC5AC Pro1671Leu P1671L not reviewed Insufficiently evaluated not reviewed unknown Array rs55818843 1 9910 0.000100908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5AC Thr3870Ile T3870I not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSPAN32 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array rs2234301 3 10752 0.000279017 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - OR10A6 Ala237Thr A237T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - OR10A3 Arg293Gln R293Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - SLC6A5 Ile566Val I566V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.52 - Y -4 - 2 N - - SLC6A5 Gly767Arg G767R not reviewed Insufficiently evaluated not reviewed unknown Array rs16906628 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 6 Y 1 N - - BC156059 Ser1145Pro S1145P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CRY2 Arg287His R287H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR4B1 Phe248Cys F248C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - GLYATL1 Arg287His R287H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM132A Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - AHNAK Val1956Leu V1956L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AHNAK Pro294Leu P294L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - C11ORF84 Pro311Leu P311L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A12 Arg342His R342H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - 1 - 1 N - - CDC42BPG Arg1237Trp R1237W not reviewed Insufficiently evaluated not reviewed unknown Array rs55975541 9 10446 0.000861573 4 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ACTN3 Ala417Ser A417S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10702 0.000467202 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR152 Gln57Arg Q57R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - ALDH3B1 Glu321Lys E321K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRGPRD Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - -4 - 0 N - - MYEOV Arg187Trp R187W not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FGF3 Arg210Gln R210Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - NUMA1 Arg1473Gln R1473Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - ARAP1 Val1256Ala V1256A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - ARHGEF17 Ala1465Asp A1465D not reviewed Insufficiently evaluated not reviewed unknown Array rs2298808 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - UVRAG Val85Met V85M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - B3GNT1 Arg88Leu R88L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PGR Ser232Phe S232F not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 5 Y 1 N - - ANGPTL5 Cys324Tyr C324Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CWF19L2 Gly383Arg G383R not reviewed Insufficiently evaluated not reviewed unknown Array rs17106909 10 120 0.0833333 7 0 8 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - SLC35F2 Ala340Asp A340D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.413 - - 5 Y 1 N - - C11ORF88 Lys109Asn K109N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9444 0.000105887 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIDT2 Arg105Cys R105C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NM_024769 Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array rs2276348 153 10758 0.014222 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SLC37A2 Val471Ile V471I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC6A12 Thr167Met T167M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAPBPL Gly151Arg G151R not reviewed Insufficiently evaluated not reviewed unknown Array rs7295376 185 10758 0.0171965 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - CD163L1 Ala946Val A946V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DUSP16 ProSerVal364Del PSV364Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 64 0.078125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ERP27 Ile167Met I167M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE3A His504Gln H504Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PDE3A Ser540Cys S540C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - PRICKLE1 Pro746Ser P746S not reviewed Insufficiently evaluated not reviewed unknown Array rs3827522 18 10758 0.00167317 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.063 - Y 3 - 1 N - - PRICKLE1 Ala124Thr A124T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - ADAMTS20 Ala1345Val A1345V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AQP6 Glu254Val E254V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - KRT83 Arg437Gln R437Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - KRT85 Cys12Arg C12R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 8 Y 0 N - - KRT6C Arg40Cys R40C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - KRT72 Asp277Gly D277G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 4 Y 2 N - - KRT76 Ser341Pro S341P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - SOAT2 Gly347Ser G347S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 2 - 1 N - - ITGA5 Ala1035Thr A1035T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ITGA5 Gly924Arg G924R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - 6 Y 0 N - - OR10A7 Ser50Asn S50N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - SILV Pro320His P320H not reviewed Insufficiently evaluated not reviewed unknown Array rs2071024 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - Y 5 Y 3 N - - PTPRB Ser1141Arg S1141R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHLDA1 Val303Ile V303I not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PHLDA1 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array rs3747549 286 8858 0.0322872 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - E2F7 Ser856Leu S856L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GALNT4 Val196Leu V196L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9770 0.00051177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - C12ORF12 ValGluAspGluGluGluGlu314Del VEDEEEE314Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3832847 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FGD6 Phe312Leu F312L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.136 - - 0 - 0 N - - ELK3 Lys165Glu K165E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.082 - - 0 - 0 N - - NEDD1 Ala606Thr A606T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - ANO4 Ala693Thr A693T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC5A8 Gly6Asp G6D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UTP20 Ile1294Lys I1294K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STAB2 Asn1479Ser N1479S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIAA1033 Thr599Ser T599S not reviewed Insufficiently evaluated not reviewed unknown Array rs1345092 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIMBP2 Asp888Asn D888N not reviewed Insufficiently evaluated not reviewed unknown Array rs11060869 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - PUS1 Asp133Asn D133N not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.054 Y - -1 - 1 N - - EP400 Leu2289Pro L2289P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EP400NL Gly301Arg G301R not reviewed Insufficiently evaluated not reviewed unknown Array 2 2958 0.000676132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - DDX51 Thr193Ile T193I not reviewed Insufficiently evaluated not reviewed unknown Array rs61760237 111 10206 0.010876 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - AK096230 Ala284Thr A284T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AB046765 Pro611Ser P611S not reviewed Insufficiently evaluated not reviewed unknown Array rs3751303 5 104 0.0480769 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DGKH Thr494Met T494M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 2 - 0 N - - AKAP11 Ile947Val I947V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SLC25A30 Ile123Met I123M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - CPB2 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.93 - - -4 - 2 N - - NUDT15 Arg139Cys R139C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - 8 Y 0 N - - TRIM13 Ala348Val A348V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH9 Pro1023Ser P1023S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DZIP1 Val245Leu V245L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SLC15A1 Val450Ile V450I not reviewed Insufficiently evaluated not reviewed unknown Array rs2274828 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYO16 Asp336Gly D336G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.931 - - 4 Y 2 N - - PROZ Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.354 - - 7 Y 1 N - - DQ866763 Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array 6 70 0.0857143 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - DQ866763 Phe212Ser F212S not reviewed Insufficiently evaluated not reviewed unknown Array rs12019772 7 80 0.0875 5 0 7 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DQ866763 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array rs73581248 2 66 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLHL33 Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array rs12587478 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNASE12 Val41Ile V41I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - LRP10 Asp518Asn D518N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.937 - - -1 - 2 N - - LRRC16B Gly323Ser G323S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NYNRIN Ser297Arg S297R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - NYNRIN Thr457Met T457M not reviewed Insufficiently evaluated not reviewed unknown Array rs12437434 31 9684 0.00320116 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HECTD1 Ile1426Val I1426V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10024 9.976e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RALGAPA1 Pro1758Leu P1758L not reviewed Insufficiently evaluated not reviewed unknown Array 130 10736 0.0121088 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - NIN Glu1007Lys E1007K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RTN1 Glu270Lys E270K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 0 - 0 N - - SYNE2 Gln3612Arg Q3612R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9628 0.000207727 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - PLEKHG3 Arg826Trp R826W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC10A1 Ser267Phe S267F not reviewed Insufficiently evaluated not reviewed unknown Array rs2296651 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 5 Y 0 N - - NRXN3 Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK7 His394Arg H394R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - WARS Lys253Glu K253E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - 0 - 0 N - - MARK3 Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLC1 Arg573His R573H not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - KIAA0284 Ser237Leu S237L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9856 0.000202922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGHA2 Pro188Ser P188S not reviewed Insufficiently evaluated not reviewed unknown Array rs72713340 3 110 0.0272727 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAM6 Val224Ala V224A not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP10A Val314Ala V314A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 2 - 1 N - - RYR3 Val2995Glu V2995E not reviewed Insufficiently evaluated not reviewed unknown Array 1 9936 0.000100644 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.93 - - 5 Y 2 N - - CASC5 Asp1390Glu D1390E not reviewed Insufficiently evaluated not reviewed unknown Array 3 9638 0.000311267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPINT1 Leu141His L141H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SPINT1 Arg438Gln R438Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTBN5 Arg1332Thr R1332T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290558 1 10514 9.5111e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TGM5 Cys105Tyr C105Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - TGM7 Lys427Glu K427E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - CEP152 Ser54Leu S54L not reviewed Insufficiently evaluated not reviewed unknown Array rs2289181 77 10178 0.00756534 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PIGB Phe327Leu F327L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9738 0.000513452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - GCNT3 Asn185Ser N185S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TLN2 Gly1114Ser G1114S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CA12 Asn28Ser N28S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - TMEM202 Val30Ile V30I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CSK Ala173Val A173V not reviewed Insufficiently evaluated not reviewed unknown Array rs11553760 282 10758 0.026213 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMAN1L Ser523Ile S523I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.805 - - 5 Y 1 N - - KIAA1199 Val603Ile V603I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - BNC1 Asp575Val D575V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 8 Y 0 N - - ALPK3 Thr761Met T761M not reviewed Insufficiently evaluated not reviewed unknown Array rs16974569 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AKAP13 Gly380Ala G380A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - RHCG Thr45Ala T45A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C15ORF42 Val671Ile V671I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WFIKKN1 Val360Leu V360L not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHOT2 Pro498Arg P498R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - JMJD8 Phe156Tyr F156Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MSLN Ser243Pro S243P not reviewed Insufficiently evaluated not reviewed unknown Array 27 10686 0.00252667 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - MSLN Leu248Pro L248P not reviewed Insufficiently evaluated not reviewed unknown Array 28 10672 0.00262369 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - MSLN Glu310Lys E310K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - MSLNL Ser816Phe S816F not reviewed Insufficiently evaluated not reviewed unknown Array 31 9912 0.00312752 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHTF18 Ala745Thr A745T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10330 0.000677637 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLX4 Pro929Leu P929L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 7 Y 0 N - - ATF7IP2 Thr682Met T682M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10712 0.000186706 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - C16ORF63 Pro134Leu P134L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOMO3 Asn458Lys N458K not reviewed Insufficiently evaluated not reviewed unknown Array rs379603 9 82 0.109756 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PDILT His68Tyr H68Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - ZP2 Met526Val M526V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - EARS2 Val194Met V194M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - RBBP6 Val1251Gly V1251G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 8 Y 1 N - - TAOK2 Thr769Ser T769S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - AK125843 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array rs596838 4 116 0.0344828 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK125843 Arg276Gly R276G not reviewed Insufficiently evaluated not reviewed unknown Array rs395061 6 120 0.05 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NKD1 Tyr464Cys Y464C not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CHD9 Thr1790Ala T1790A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - LPCAT2 Val89Leu V89L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744474 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPCAT2 Pro522Ser P522S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - RLTPR Thr149Ser T149S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - -2 - 1 N - - CNTNAP4 Lys186Glu K186E not reviewed Insufficiently evaluated not reviewed unknown Array rs35363016 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS18 Val676Ala V676A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 2 - 2 N - - ZNF469 Ala290Val A290V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.069 - - 2 - 0 N - - ZNF469 Ser3262Gly S3262G not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - SNAI3 Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - ANKRD11 Pro2059His P2059H not reviewed Insufficiently evaluated not reviewed unknown Array 15 8768 0.00171077 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - CPNE7 Pro558Leu P558L not reviewed Insufficiently evaluated not reviewed unknown Array rs3751682 4 10742 0.00037237 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM7 Met387Leu M387L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9868 0.000101337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC139719 Asp88Glu D88E not reviewed Insufficiently evaluated not reviewed unknown Array rs9935835 14 114 0.122807 8 0 12 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - MYO1C Asp929Asn D929N not reviewed Insufficiently evaluated not reviewed unknown Array rs11538161 30 10758 0.00278862 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBBP1A Arg913Cys R913C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.696 - - 8 Y 1 N - - MINK1 Arg576His R576H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF1C Ser996Asn S996N not reviewed Insufficiently evaluated not reviewed unknown Array 173 10664 0.0162228 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEURL4 Ser40Thr S40T not reviewed Insufficiently evaluated not reviewed unknown Array 11 70 0.157143 9 0 9 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - TMEM102 Val321Gly V321G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - KDM6B GlnLysGluHis980Del QKEH980Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK095766 Ala48Val A48V not reviewed Insufficiently evaluated not reviewed unknown Array 6 126 0.047619 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - ARHGEF15 Arg681Gln R681Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ELAC2 Pro808Ala P808A not reviewed Insufficiently evaluated not reviewed unknown Array 5 80 0.0625 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.615 Y - 2 - 1 N - - FAM83G Gly665Ser G665S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10058 0.000198846 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_173624 Arg82Trp R82W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10418 0.000191975 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SSH2 Ala956Val A956V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - KRT31 Glu252Lys E252K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKBP10 Thr272Met T272M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 1 N - - AK098213 Ser45Thr S45T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFI35 Ala78Val A78V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - EME1 Asp326Asn D326N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM25 Ile342Thr I342T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MTMR4 Arg521Cys R521C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 8 Y 2 N - - ACE Met312Thr M312T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - KCNH6 Arg715Leu R715L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - HELZ Gln1403Arg Q1403R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR142 ValArg231AspCys VR231DC not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AL832652 Asp667Asn D667N not reviewed Insufficiently evaluated not reviewed unknown Array rs2289752 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CARD14 Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - AZI1 Arg768His R768H not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Gly679Ser G679S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACTG1 Thr120Ala T120A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - KIAA0802 Lys892Gln K892Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11874468 79 10758 0.00734337 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CTAGE1 Thr414Ile T414I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10534 0.000284792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSG1 Asp707Glu D707E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - ASXL3 Pro642Leu P642L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9798 0.000204123 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - C18ORF10 Arg47Cys R47C not reviewed Insufficiently evaluated not reviewed unknown Array rs2303507 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SERPINB3 Gln211His Q211H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CDH19 Ala600Val A600V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - NM_152988 Arg113Cys R113C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TLE2 Ala296Thr A296T not reviewed Insufficiently evaluated not reviewed unknown Array 157 10316 0.0152191 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTF2F1 Gln293Lys Q293K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -2 - 0 N - - KIAA1543 Pro362Ser P362S not reviewed Insufficiently evaluated not reviewed unknown Array rs3745358 3 9774 0.000306936 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC4G Pro20Thr P20T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 4 Y 0 N - - FBN3 Ser1597Gly S1597G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD320 Glu88Del E88Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AY203940 MetAlaThrAla1Del MATA1Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 100 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRAM1 Phe15Leu F15L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - MBD3L1 Arg10Pro R10P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 5 Y 2 N - - MUC16 Thr14253Ala T14253A not reviewed Insufficiently evaluated not reviewed unknown Array rs61734967 46 10210 0.00450539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Gly14156Arg G14156R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Gly1144Cys G1144C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF266 Lys247Arg K247R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.324 - - -3 - 1 N - - ILF3 Gly864Ser G864S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC125186 Val113Met V113M not reviewed Insufficiently evaluated not reviewed unknown Array rs12611158 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - MAP1S Arg535Gln R535Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.163 - - 0 - 0 N - - ZNF253 Lys173Glu K173E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10330 0.00019361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD27 Tyr318His Y318H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ANKRD27 Thr50Ile T50I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - KIAA0355 Pro33Leu P33L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCN1B Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array rs72558026 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - NPHS1 Ala22Val A22V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ZNF260 Met48Thr M48T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743049 154 10758 0.0143149 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ZNF420 Lys594Asn K594N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - SIPA1L3 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - GGN Trp50Arg W50R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NFKBIB Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10628 9.4091e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - SAMD4B Asn219Ser N219S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 0 - 0 N - - ZNF780A Ile70Leu I70L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAP3K10 Arg455Cys R455C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MEGF8 Arg1142Trp R1142W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHLDB3 Arg284Trp R284W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF155 Arg520Cys R520C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYMPK Ser1169Phe S1169F not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 5 Y 1 N - - PTGIR Arg77Cys R77C not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SYNGR4 Arg27Trp R27W not reviewed Insufficiently evaluated not reviewed unknown Array rs919804 397 10758 0.0369028 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GRIN2D Val271Ile V271I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - PRR12 Pro1499Leu P1499L not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF76 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHANK1 Pro423Ala P423A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC7 Arg94Gly R94G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CD33 Ile198Met I198M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.191 - - -1 - 0 N - - CD33 Val294Leu V294L not reviewed Insufficiently evaluated not reviewed unknown Array rs2271652 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.28 - - 0 - 1 N - - ZNF175 Gly453Arg G453R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZNF611 Pro188Ser P188S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF761 Arg292Leu R292L not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB4 Arg347Trp R347W not reviewed Insufficiently evaluated not reviewed unknown Array rs73933939 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIR3DL2 Lys439Gln K439Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745903 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - NCR1 Glu294Del E294Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NLRP11 Asn387Ser N387S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NLRP11 Ser140Arg S140R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.345 - - 3 - 1 N - - ZNF471 Arg619Ile R619I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - ZNF446 Glu335Lys E335K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 0 - 1 N - - NBAS Tyr530Cys Y530C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - C2ORF71 Ser1085Leu S1085L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRPPRC Val430Ala V430A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - VPS54 Thr147Ile T147I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC040598 Val166Leu V166L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC6B Tyr498His Y498H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - -1 - 1 N - - NAT8B Arg135Trp R135W not reviewed Insufficiently evaluated not reviewed unknown Array rs57478538 34 10758 0.00316044 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAPG Lys227Arg K227R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IMMT Thr135Ala T135A not reviewed Insufficiently evaluated not reviewed unknown Array rs59649940 10 9512 0.0010513 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - NCAPH Arg221Gly R221G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.641 - - 6 Y 1 N - - TBC1D8 Met1108Val M1108V not reviewed Insufficiently evaluated not reviewed unknown Array rs3739011 1 9744 0.000102627 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK131289 Gly183Ser G183S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST6GAL2 Asp191Glu D191E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - NM_001029996 Ser32Leu S32L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCKAP5 Thr988Ser T988S not reviewed Insufficiently evaluated not reviewed unknown Array rs61746887 28 9780 0.00286299 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC148 Tyr307Phe Y307F not reviewed Insufficiently evaluated not reviewed unknown Array 33 10752 0.0030692 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - -4 - 2 N - - CCDC148 His151Asn H151N not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 0 - 1 N - - IFIH1 Lys365Glu K365E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 1 N - - XIRP2 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9788 0.000102165 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - GPR155 Arg130Gln R130Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - 0 - 2 N - - HOXD1 Pro237Arg P237R not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DUSP19 Gln58Arg Q58R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.648 - - 0 - 1 N - - NUP35 Met323Val M323V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - SLC40A1 Thr419Ile T419I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 3 - 1 N - - ANKAR Lys487Arg K487R not reviewed Insufficiently evaluated not reviewed unknown Array 361 10758 0.0335564 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PMS1 Arg919Cys R919C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RAPH1 Pro611Leu P611L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - NRP2 Ile40Phe I40F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - NRP2 Asn811Thr N811T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CXCR1 Arg285Trp R285W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - STK36 Leu988Phe L988F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ANKZF1 Ser566Cys S566C not reviewed Insufficiently evaluated not reviewed unknown Array rs2293075 8 9732 0.00082203 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.789 - - 3 - 1 N - - ESPNL Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - SNED1 Asn1015Ser N1015S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - DTYMK His35Tyr H35Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11555213 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - D2HGDH Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - -4 - 1 N - - SLC4A11 Asn166Ser N166S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF194 Arg987His R987H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMX4 Thr156Arg T156R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.574 - - 3 - 1 N - - ANKRD5 Lys460Glu K460E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SNRPB2 Val38Met V38M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC24A3 Leu49Pro L49P not reviewed Insufficiently evaluated not reviewed unknown Array rs3790174 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - RALGAPA2 Ser492Asn S492N not reviewed Insufficiently evaluated not reviewed unknown Array rs6137081 57 9916 0.00574828 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLK1S1 Ser321Pro S321P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAPB Lys22Arg K22R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10654 0.000187722 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - -3 - 0 N - - NINL Val476Met V476M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - DUSP15 Glu152Gly E152G not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF160 Thr92Met T92M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSPY26P Met209Thr M209T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - C20ORF186 Asn234Ser N234S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF114 Val284Met V284M not reviewed Insufficiently evaluated not reviewed unknown Array rs6141383 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FER1L4 Arg175His R175H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FER1L4 Gly168Arg G168R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EMILIN3 Arg99Cys R99C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KCNS1 Gly445Val G445V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - PLTP Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CDH22 Glu92Lys E92K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - SULF2 Thr726Met T726M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GCNT7 Asn303His N303H not reviewed Insufficiently evaluated not reviewed unknown Array rs3746627 8 128 0.0625 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - LAMA5 Arg2751Trp R2751W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - C21ORF91 Ser291Leu S291L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRIK1 Asp866Val D866V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 8 Y 0 N - - DOPEY2 Ser272Tyr S272Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PRDM15 Ser697Leu S697L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 6 Y 1 N - - UBASH3A Leu28Phe L28F not reviewed Insufficiently evaluated not reviewed unknown Array rs2277800 373 10400 0.0358654 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - TRPM2 Ile1368Met I1368M not reviewed Insufficiently evaluated not reviewed unknown Array rs45613636 1 9666 0.000103455 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - XKR3 Pro291Ser P291S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - CLTCL1 Tyr689His Y689H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF70 Tyr48Cys Y48C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - TBC1D10A Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS3 Arg49His R49H not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SUN2 Thr33Ala T33A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072799 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - TAB1 Leu152Pro L152P not reviewed Insufficiently evaluated not reviewed unknown Array rs35469986 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 7 Y 0 N - - TTLL12 Gly155Arg G155R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 6 Y 1 N - - CPT1B Ala747Thr A747T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 0 N - - ACR Thr24Met T24M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - TTLL3 Glu174Lys E174K not reviewed Insufficiently evaluated not reviewed unknown Array rs3806669 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 0 - 0 N - - IQSEC1 Arg457Gln R457Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - C3ORF20 Asn453Ser N453S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GALNTL2 His417Gln H417Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - OXSM Tyr81Cys Y81C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - EXOG Arg291Gln R291Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 0 - 0 N - - XIRP1 Arg678Trp R678W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - FYCO1 Glu238Ala E238A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - PTPN23 Ser797Leu S797L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 6 Y 1 N - - GRM2 Ala248Thr A248T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - DNAH12 Asn187Asp N187D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF717 Val182Ile V182I not reviewed Insufficiently evaluated not reviewed unknown Array rs4240970 2 64 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR5H15 Arg122Leu R122L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - BC038577 Val159Ile V159I not reviewed Insufficiently evaluated not reviewed unknown Array rs1381837 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - BOC Gly309Arg G309R not reviewed Insufficiently evaluated not reviewed unknown Array rs3814400 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 6 Y 2 N - - TIGIT Gln139His Q139H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - C3ORF30 Glu32Del E32Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UPK1B Asn137Asp N137D not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - HSPBAP1 His24Arg H24R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - SEMA5B Gly311Glu G311E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HEG1 Thr333Ala T333A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TPRA1 Arg150Trp R150W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PODXL2 Ser34Thr S34T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - RASA2 Ser283Ala S283A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - -1 - 0 N - - TMEM14E Val115Ile V115I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -4 - 0 N - - GFM1 Glu208Lys E208K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.942 Y - 0 - 3 N - - SMC4 Glu16Gln E16Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -2 - 1 N - - ZBBX Pro339Ser P339S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9544 0.000523889 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPL22L1 Thr65Ile T65I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - KLHL24 Asp197Ala D197A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 5 Y 1 N - - RTP1 Arg116Ser R116S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.554 - - 3 - 1 N - - CCDC50 Lys333Gln K333Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - GP5 Gly357Arg G357R not reviewed Insufficiently evaluated not reviewed unknown Array rs3732466 38 9610 0.00395421 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 6 Y 1 N - - MUC20 Glu511Lys E511K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TFRC Leu212Val L212V not reviewed Insufficiently evaluated not reviewed unknown Array rs41301381 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF718 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM175 Gly478Val G478V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 8 Y 1 N - - MAEA Ala35Thr A35T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TACC3 Ala277Val A277V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10724 0.000279746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRK4 His78Arg H78R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HGFAC Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - EVC Lys445Gln K445Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.968 Y - -2 - 3 N - - MRFAP1L1 Glu21Gly E21G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 6 Y 2 N - - SH3TC1 Met224Ile M224I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BOD1L Pro2502Leu P2502L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 7 Y 0 N - - NCAPG Ala368Thr A368T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - LGI2 Ser64Asn S64N not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SEL1L3 Trp1054Cys W1054C not reviewed Insufficiently evaluated not reviewed unknown Array rs2286866 4 10236 0.000390777 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 7 Y 0 N - - FAM114A1 Arg161Trp R161W not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - N4BP2 Val813Leu V813L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - FRYL Lys810Arg K810R not reviewed Insufficiently evaluated not reviewed unknown Array 4 9560 0.00041841 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - NMU Ala18Glu A18E not reviewed Insufficiently evaluated not reviewed unknown Array rs3828555 252 7570 0.0332893 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.578 - - 3 - 1 N - - FAM13A Met926Val M926V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPK1 Gly870Ser G870S not reviewed Insufficiently evaluated not reviewed unknown Array rs2074380 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - 2 - 0 N - - ALPK1 Glu910Asp E910D not reviewed Insufficiently evaluated not reviewed unknown Array rs35308602 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - ALPK1 Asn916Asp N916D not reviewed Insufficiently evaluated not reviewed unknown Array rs2074381 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - NEUROG2 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001099776 Ile232Thr I232T not reviewed Insufficiently evaluated not reviewed unknown Array rs3828539 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FAT4 Ser1655Asn S1655N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - SLC7A11 Ile321Val I321V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RNF150 Asn331Ser N331S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - ZNF827 Glu175Lys E175K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - FAT1 Glu1141Asp E1141D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 Y - -2 - 2 N - - TRIML1 Ser129Arg S129R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - 3 - 1 N - - KIAA0947 Asp477Glu D477E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.196 - - -2 - 0 N - - CDH18 Ile586Leu I586L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5ORF42 Thr1182Met T1182M not reviewed Insufficiently evaluated not reviewed unknown Array rs34737149 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C5ORF51 Gly31Arg G31R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRPS30 Leu115Gln L115Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 5 Y 1 N - - DEPDC1B Glu469Gly E469G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_173667 Met108Val M108V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - MRPS27 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LHFPL2 Ile102Val I102V not reviewed Insufficiently evaluated not reviewed unknown Array rs2303654 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - CHSY3 Leu869Phe L869F not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - RAD50 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - KIF20A Glu63Lys E63K not reviewed Insufficiently evaluated not reviewed unknown Array rs3734116 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - PCDHB9 Pro361Ser P361S not reviewed Insufficiently evaluated not reviewed unknown Array rs17844514 3 10308 0.000291036 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB13 Ala554Ser A554S not reviewed Insufficiently evaluated not reviewed unknown Array rs17844613 1 10744 9.3075e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ODZ2 Ile2567Leu I2567L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -2 - 0 N - - FBXW11 Arg173Leu R173L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - NM_001093761 Arg115Gln R115Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.726 - - 0 - 1 N - - DOK3 Asn394Ser N394S not reviewed Insufficiently evaluated not reviewed unknown Array rs35297928 1 10744 9.3075e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - BC130444 Ser214Asn S214N not reviewed Insufficiently evaluated not reviewed unknown Array 2 18 0.111111 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.82 - - 0 - 0 N - - BC130444 Leu204Met L204M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 1 N - - NM_207582 Thr522Met T522M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIVEP1 Ala2692Gly A2692G not reviewed Insufficiently evaluated not reviewed unknown Array rs1042054 329 10694 0.0307649 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GMPR Val52Ala V52A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KAAG1 Gly67Val G67V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA0319 Gly919Ala G919A not reviewed Insufficiently evaluated not reviewed unknown Array rs10946705 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - HIST1H2AK Ala48Glu A48E not reviewed Insufficiently evaluated not reviewed unknown Array 55 10754 0.00511438 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-A Leu180Gln L180Q not reviewed Insufficiently evaluated not reviewed unknown Array rs9260155 11 86 0.127907 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - MDC1 Ser533Leu S533L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.354 - - 6 Y 1 N - - HLA-C Thr118Ile T118I not reviewed Insufficiently evaluated not reviewed unknown Array rs1131119 828 10560 0.0784091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - NM_021160 Asp159Asn D159N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZBTB12 Val49Ile V49I not reviewed Insufficiently evaluated not reviewed unknown Array rs9394078 244 10758 0.0226808 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.838 - - -4 - 1 N - - HLA-DMB Thr249Ile T249I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HLA-DPA1 Val122Met V122M not reviewed Insufficiently evaluated not reviewed unknown Array 87 7514 0.0115784 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - HLA-DPB1 Ala84Glu A84E not reviewed Insufficiently evaluated not reviewed unknown Array rs707958 9 126 0.0714286 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - HLA-DPB2 Leu22Cys L22C not reviewed Insufficiently evaluated not reviewed unknown Array rs9380345 8 128 0.0625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DAAM2 Met712Val M712V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - FRS3 Pro137Arg P137R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - TRERF1 Ala1198Thr A1198T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBCC Pro169Ser P169S not reviewed Insufficiently evaluated not reviewed unknown Array rs2234027 8 10744 0.000744601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CUL7 Gln514His Q514H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.955 - Y -1 - 3 N - - CUL7 Ala344Thr A344T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - POLR1C Met212Val M212V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.402 - - 0 - 1 N - - MCM3 Asn773Thr N773T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - DST Val1453Leu V1453L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAI3 Asn1360Ser N1360S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - CD109 Arg916Gln R916Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.526 - - 0 - 1 N - - FILIP1 Asp747Glu D747E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - ME1 Arg254His R254H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - FBXL4 Arg482Gln R482Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - C6ORF225 Phe12Leu F12L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMA4 Val1815Ile V1815I not reviewed Insufficiently evaluated not reviewed unknown Array rs3734292 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - OR2A4 Arg9Thr R9T not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NHSL1 Ser1348Phe S1348F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VTA1 Ala220Gly A220G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 1 - 1 N - - GPR126 Thr70Met T70M not reviewed Insufficiently evaluated not reviewed unknown Array 64 9870 0.00648429 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHPRH Asn1205Ser N1205S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9648 0.000310945 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTHFD1L Thr619Met T619M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - AKAP12 Lys1218Ile K1218I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - ARID1B Val2098Leu V2098L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TULP4 Arg950Cys R950C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TAGAP His674Arg H674R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - 1 - 0 N - - SFT2D1 Asp13His D13H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - FGFR1OP Thr204Ile T204I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751042 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - FGFR1OP Lys271Asn K271N not reviewed Insufficiently evaluated not reviewed unknown Array rs17856382 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - FGFR1OP Ser301Pro S301P not reviewed Insufficiently evaluated not reviewed unknown Array rs34585172 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM120B Gln711Leu Q711L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ADAP1 Arg61His R61H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM184A Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.553 - - -4 - 1 N - - SDK1 Thr2188Lys T2188K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10118 0.000296501 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - RNF216 Pro51Arg P51R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 5 Y 0 N - - SCIN Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - TMEM195 Lys234Arg K234R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10610 0.000754005 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -3 - 0 N - - ABCB5 Gln262Lys Q262K not reviewed Insufficiently evaluated not reviewed unknown Array rs2074000 49 7820 0.00626598 6 0 8 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAH11 Ile192Met I192M not reviewed Insufficiently evaluated not reviewed unknown Array rs72655972 39 9506 0.00410267 4 0 5 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - DNAH11 Asp971Gly D971G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - GPNMB Ser294Phe S294F not reviewed Insufficiently evaluated not reviewed unknown Array rs35499907 96 10758 0.00892359 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - CCDC129 Glu231Gln E231Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKD1L1 CysIle2178SerLeu CI2178SL not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA13 Arg792Ile R792I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCA13 Ile2553Val I2553V not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FKBP9L Asp46Asn D46N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRIM50 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.323 - - 0 - 1 N - - TBL2 Gln73Arg Q73R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - GNAI1 Ile82Thr I82T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - AKAP9 Ser1065Gly S1065G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP1R9A Tyr433Cys Y433C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TECPR1 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - GIGYF1 Glu364Del E364Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZAN Ser2204Asn S2204N not reviewed Insufficiently evaluated not reviewed unknown Array 133 9632 0.0138081 10 0 12 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXL13 Gly656Val G656V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ARMC10 Arg29Trp R29W not reviewed Insufficiently evaluated not reviewed unknown Array rs7798381 298 7494 0.0397651 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PMPCB Ala375Thr A375T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - ASZ1 Glu93Val E93V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - 5 Y 1 N - - NR_002144 Val227Met V227M not reviewed Insufficiently evaluated not reviewed unknown Array rs61740497 7 126 0.0555556 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM40B Ile771Thr I771T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - AKR1B15 Phe83Leu F83L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC26 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - TAS2R4 Tyr6Ser Y6S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233997 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.959 - - 5 Y 2 N - - FAM131B Ala77Thr A77T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMUB1 Gly185Glu G185E not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - AGAP3 Arg906His R906H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10076 0.000198491 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRN2 Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - NM_001080826 Asp463Glu D463E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RP1L1 GluThr1343ThrGlu ET1343TE not reviewed Insufficiently evaluated not reviewed unknown Array 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RP1L1 Glu1165Gly E1165G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF74 Ser220Asn S220N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10120 0.000296442 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTMR9 Ile120Val I120V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM86B1 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array rs2719492 3 6 0.5 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - GFRA2 Arg18Cys R18C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - HR Arg139Trp R139W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 - - 7 Y 2 N - - ZNF395 Ala459Val A459V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TEX15 LeuGlu682Del LE682Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DDHD2 Gln7Lys Q7K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GINS4 Pro119Ala P119A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 2 - 0 N - - TOX Gly196Ala G196A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - VCPIP1 Pro812Ala P812A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 2 - 0 N - - PREX2 Val678Leu V678L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ZFHX4 Ala377Thr A377T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - RAD54B Met314Leu M314L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.597 - - -3 - 1 N - - GRHL2 Val415Ile V415I not reviewed Insufficiently evaluated not reviewed unknown Array rs3779617 5 10758 0.00046477 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - -4 - 2 N - - FZD6 Gly169Arg G169R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRPS1 Val1068Ile V1068I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9712 0.000102965 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - FAM83A Gly103Ser G103S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 2 - 1 N - - FER1L6 Asp1259Glu D1259E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - -2 - 2 N - - TRAPPC9 Ser829Asn S829N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC45A4 Leu707Pro L707P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSNARE1 Gly9Ala G9A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP11B2 His439Tyr H439Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 36 0.0277778 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 1 N - - MAPK15 Thr264Met T264M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10524 0.000380083 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.67 - - 2 - 1 N - - C9ORF66 Trp19Arg W19R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNV2 Ala505Ser A505S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - C9ORF46 Gly71Ala G71A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FREM1 Thr1415Ser T1415S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HAUS6 Arg322Cys R322C not reviewed Insufficiently evaluated not reviewed unknown Array 111 10710 0.0103641 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - KIAA1797 Glu1112Ala E1112A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - C9ORF24 Cys119Arg C119R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM75D1 Lys440Thr K440T not reviewed Insufficiently evaluated not reviewed unknown Array 45 9674 0.00465164 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - TBC1D2 Asp693Asn D693N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - COL15A1 Arg772Gln R772Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF189 His222Tyr H222Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - SMC2 Pro951Ser P951S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR13C2 Leu86Val L86V not reviewed Insufficiently evaluated not reviewed unknown Array rs60573979 4 118 0.0338983 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 1 N - - ABCA1 Arg443Lys R443K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - SVEP1 Thr577Ser T577S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - SVEP1 Gly428Ser G428S not reviewed Insufficiently evaluated not reviewed unknown Array rs10980419 202 9874 0.0204578 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 2 - 0 N - - SLC46A2 Gly95Trp G95W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALAD Arg240Gln R240Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - RGS3 Arg150Trp R150W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FAM73B Arg214Gln R214Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF171 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10684 0.000561587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOTCH1 Ile567Val I567V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - COBRA1 Ala504Thr A504T not reviewed Insufficiently evaluated not reviewed unknown Array rs28620856 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1B Gln378Glu Q378E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - -2 - 2 N - - AF391805 Ala70Thr A70T not reviewed Insufficiently evaluated not reviewed unknown Array rs28357684 7 0 14 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STS Met315Leu M315L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.576 Y - -3 - 2 N - - DDX53 Asp73His D73H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - POLA1 Gly56Asp G56D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM47C Glu552Asp E552D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - ZNF157 Ala196Glu A196E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - AKAP4 Ala182Thr A182T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ITIH5L Arg562His R562H not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - CXCR3 Val16Phe V16F not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGEE2 Gly220Ala G220A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - HMGN5 Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH11X Pro1213Leu P1213L not reviewed Insufficiently evaluated not reviewed unknown Array 8 8757 0.000913554 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 7 Y 2 N - - ZMAT1 Arg310His R310H not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACTRT1 Asn292Ser N292S not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - IGSF1 Gly711Ala G711A not reviewed Insufficiently evaluated not reviewed unknown Array 18 8761 0.00205456 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - IGSF1 Arg544Trp R544W not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - GABRQ Met108Lys M108K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - ERMAP Glu62Leu E62L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 7 Y 3 N - - ERMAP Thr138Ala T138A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 Y Y 1 - 2 N - - CPT2 Phe352Cys F352C not reviewed Insufficiently evaluated not reviewed unknown Array rs2229291 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 4 Y 4 N - - CASQ2 Ile161Leu I161L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.054 Y Y -2 - 2 N - - LAMC2 AlaGlyIleTyrCys546Del AGIYC546Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - HMCN1 Asn3840Shift N3840Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - USH2A Ser1122Ala S1122A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.937 Y Y -1 - 4 N - - LYST Glu1013Shift E1013Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - RYR2 Ala1365Val A1365V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9714 0.000102944 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CUBN Gly3347Arg G3347R not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CUBN Pro604Leu P604L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LDB3 Arg165Trp R165W not reviewed Insufficiently evaluated not reviewed unknown Array rs45610637 1 10742 9.3092e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CTSD Arg411His R411H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.33 Y Y 1 - 3 N - - TNNT3 Glu18Del E18Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - LDLRAD3 Pro326Shift P326Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4A15 Gln256Stop Q256X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRP5 Gln89Arg Q89R not reviewed Insufficiently evaluated not reviewed unknown Array rs41494349 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 0 - 2 N - - LRP5 Arg925Cys R925C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 8 Y 2 N - - ATM Lys92Thr K92T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MPZL3 Ala7Shift A7Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MPZL2 Pro23Shift P23Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATN1 Val906Met V906M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.294 Y Y 0 - 3 N - - PEX5 Asp616Asn D616N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - ACVRL1 Arg218Trp R218W not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - GNPTAB Asp190Gly D190G not reviewed Insufficiently evaluated not reviewed unknown Array rs34946266 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.121 Y Y 4 Y 2 N - - SACS Pro3678Ala P3678A not reviewed Insufficiently evaluated not reviewed unknown Array rs17078601 166 10758 0.0154304 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 2 - 4 N - - FNDC3A Ser275Shift S275Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP7B Val1297Ile V1297I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10492 0.000476553 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y -4 - 2 N - - COL4A1 His19Gln H19Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - DUOX2 Arg1470Trp R1470W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CYP19A1 Trp39Arg W39R not reviewed Insufficiently evaluated not reviewed unknown Array rs2236722 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.283 Y - 7 Y 2 N - - GOLGA6B Val547Shift V547Shift not reviewed Insufficiently evaluated not reviewed unknown Array 16 16 1 8 0 16 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD276 Thr244Shift T244Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATXN2L Met802Shift M802Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JPH3 Val367Ile V367I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10736 0.000372578 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y -4 - 2 N - - CDH15 Gly785Arg G785R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10724 9.3248e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 Y - 6 Y 2 N - - MFSD6L Leu84Shift L84Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAI1 Pro1437Ala P1437A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 2 - 2 N - - ABHD15 Val350Shift V350Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASB16 Arg416Stop R416X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USH1G Arg409Gly R409G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.798 Y Y 6 Y 3 N - - ATP8B1 Met674Thr M674T not reviewed Insufficiently evaluated not reviewed unknown Array rs35470719 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - ATP8B1 Ile577Val I577V not reviewed Insufficiently evaluated not reviewed unknown Array rs3745078 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.97 Y Y -4 - 4 N - - ATP8B1 His78Gln H78Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3745079 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CTDP1 Glu582GluGlu E582EE not reviewed Insufficiently evaluated not reviewed unknown Array rs72147810 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PEX11G Asn194Shift N194Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C19ORF45 Asn182Shift N182Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP4F8 Trp91Stop W91X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RYR1 Pro1423Leu P1423L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.884 Y Y 7 Y 4 N - - NLRP13 Ser447Stop S447X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MATN3 Ser47Asn S47N not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 0 - 2 N - - RBKS Thr256Shift T256Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SRD5A2 Leu25Shift L25Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - LRPPRC Arg989Cys R989C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - RETSAT Gly267Shift G267Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEKT4 Tyr231Shift Y231Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Arg2437Gln R2437Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730780 23 9704 0.00237016 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg25229Gln R25229Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg21059His R21059H not reviewed Insufficiently evaluated not reviewed unknown Array rs56071233 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Pro10801Arg P10801R not reviewed Insufficiently evaluated not reviewed unknown Array rs72650066 26 9692 0.00268262 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Leu8072Arg L8072R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ala5771Val A5771V not reviewed Insufficiently evaluated not reviewed unknown Array rs72648960 27 9802 0.00275454 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL4A3 Met1209Ile M1209I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9626 0.000103885 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y -1 - 4 N - - C2ORF57 Arg143Shift R143Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - D2HGDH Arg15Gly R15G not reviewed Insufficiently evaluated not reviewed unknown Array rs4675887 4 118 0.0338983 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.37 Y - 6 Y 2 N - - C20ORF96 Arg331Shift R331Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC35C2 Gly292Shift G292Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG12 Arg211Cys R211C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.346 Y Y 8 Y 3 N - - ALG12 Asp56Asn D56N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -1 - 4 N - - RFTN1 Asp515Shift D515Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 76 0.0394737 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALS2CL Glu291Stop E291X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPOX Arg426Stop R426X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - COX17 Cys23Shift C23Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PARP14 Asn338Shift N338Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EGF Gln1136Shift Q1136Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11569144 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMAD1 Asn147His N147H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.103 Y Y 0 - 2 N - - ALDH7A1 Ile97Val I97V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CCDC99 Tyr60Shift Y60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BTN2A3 Asn283Shift N283Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-H Asp29Ala D29A not reviewed Insufficiently evaluated not reviewed unknown Array rs2734948 3 42 0.0714286 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - HLA-H Pro32Gln P32Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2734947 3 50 0.06 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 2 N - - HLA-H Trp189Stop W189X not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CYP21A2 Asp184Glu D184E not reviewed Insufficiently evaluated not reviewed unknown Array rs1040310 6 10748 0.000558243 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - HLA-DQA1 Met18Thr M18T not reviewed Insufficiently evaluated not reviewed unknown Array rs12722040 66 10758 0.00613497 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HLA-DQB1 Asp89Ser D89S not reviewed Insufficiently evaluated not reviewed unknown Array rs1140314 2 10 0.2 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SLC26A8 Ala524Shift A524Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AHI1 Thr304Shift T304Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - PBOV1 Gly92Shift G92Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HOXA1 His72HisHis H72HH not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - RINT1 Arg656Shift R656Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 104 0.0288462 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AJ005372 Leu329Shift L329Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 7 0 7 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTUD6B Cys17Shift C17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM67 Ala231Gly A231G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - VPS13B Glu363Lys E363K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 0 - 3 N - - ENHO Ala33Shift A33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 112 0.0446429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DFNB31 Arg379Trp R379W not reviewed Insufficiently evaluated not reviewed unknown Array rs56059137 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FGD1 Leu177Pro L177P not reviewed Insufficiently evaluated not reviewed unknown Array 2 71 0.028169 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PHKA1 Arg514Trp R514W not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 7 Y 3 N - - PCDH19 Arg933Cys R933C not reviewed Insufficiently evaluated not reviewed unknown Array rs3764758 2 8344 0.000239693 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - PLEKHN1 His184Tyr H184Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MIB2 Arg393Trp R393W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CDK11B Asp638Glu D638E not reviewed Insufficiently evaluated not reviewed unknown Array 770 9810 0.0784913 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CDK11B Ser399Leu S399L not reviewed Insufficiently evaluated not reviewed unknown Array rs1059828 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MORN1 His349Arg H349R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10734 9.3161e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - MEGF6 Asn1317Lys N1317K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - 1 - 1 N - - MEGF6 Pro482Leu P482L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - DFFB Lys277Arg K277R not reviewed Insufficiently evaluated not reviewed unknown Array rs12564400 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.088 - - -3 - 0 N - - TAS1R1 Gln12His Q12H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - GPR157 Glu119Gly E119G not reviewed Insufficiently evaluated not reviewed unknown Array rs61785839 5 94 0.0531915 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CASZ1 Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10368 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - C1ORF127 Ala283Leu A283L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTCHD2 Gly1342Asp G1342D not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 4 Y 0 N - - HNRNPCL1 Ala277Val A277V not reviewed Insufficiently evaluated not reviewed unknown Array 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - TMEM82 Ser6Phe S6F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLCNKA Thr264Asn T264N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.876 Y - 1 - 3 N - - EPHA2 Gly489Val G489V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACTL8 Arg245Cys R245C not reviewed Insufficiently evaluated not reviewed unknown Array rs3795322 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 8 Y 1 N - - MYOM3 Val673Ile V673I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - C1ORF201 Asn26Ser N26S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHCE Ile125Met I125M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP3K6 Arg261Gln R261Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MATN1 Val368Met V368M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 0 - 0 N - - MAP7D1 Lys537Del K537Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3045695 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GRIK3 Gly539Cys G539C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FOXJ3 Ile194Met I194M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - ZFYVE9 Gln414Pro Q414P not reviewed Insufficiently evaluated not reviewed unknown Array rs3790525 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 4 Y 2 N - - ORC1 Thr466Met T466M not reviewed Insufficiently evaluated not reviewed unknown Array rs3087481 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.904 Y - 2 - 3 N - - NEXN Arg279Cys R279C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - TTLL7 Arg637Trp R637W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PKN2 Ala197Glu A197E not reviewed Insufficiently evaluated not reviewed unknown Array rs35207128 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - KIAA1107 Pro1206Ser P1206S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGL Gln1162His Q1162H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -1 - 3 N - - CDC14A Glu162Lys E162K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC14A Ala622Gly A622G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPSM2 Thr516Del T516Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPN22 Arg183Gln R183Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Arg1684Gly R1684G not reviewed Insufficiently evaluated not reviewed unknown Array 732 4778 0.153202 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HRNR Gly1368Cys G1368C not reviewed Insufficiently evaluated not reviewed unknown Array 383 4276 0.0895697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - HRNR Arg843Gln R843Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLG2 Ser755Tyr S755Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CRCT1 Cys96Tyr C96Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16834168 237 9542 0.0248376 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NUP210L Thr468Ile T468I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9522 0.000105019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 1 N - - DCST2 Ile501Val I501V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - CD1B Arg327Trp R327W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR6K2 Gly221Ser G221S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - FCER1A Ser101Asn S101N not reviewed Insufficiently evaluated not reviewed unknown Array rs2298805 13 10758 0.0012084 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - OR10J1 Met70Thr M70T not reviewed Insufficiently evaluated not reviewed unknown Array rs35634161 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - LRRC52 Arg297Gln R297Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP350 Ala2866Thr A2866T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MR1 Met117Ile M117I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PRG4 Thr987Ile T987I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - C1ORF99 Glu12Gln E12Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LAD1 Asp489Glu D489E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KDM5B Ser1210Leu S1210L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPFIA4 Val712Ile V712I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPFIA4 Ile1191Thr I1191T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10114 9.8872e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHIT1 Ala170Ser A170S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -1 - 1 N - - BTG2 Val153Met V153M not reviewed Insufficiently evaluated not reviewed unknown Array rs12039961 3 10730 0.000279589 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SOX13 Gly395Ser G395S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10546 9.4822e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMCC2 Ala24Thr A24T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - SRGAP2 Pro946Leu P946L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYRK3 Arg438His R438H not reviewed Insufficiently evaluated not reviewed unknown Array rs35021645 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CD34 Ala367Ser A367S not reviewed Insufficiently evaluated not reviewed unknown Array rs28362497 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - -1 - 1 N - - CR620847 Pro347Leu P347L not reviewed Insufficiently evaluated not reviewed unknown Array 6 118 0.0508475 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CR620847 Ala307Ser A307S not reviewed Insufficiently evaluated not reviewed unknown Array 6 120 0.05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IARS2 Lys576Glu K576E not reviewed Insufficiently evaluated not reviewed unknown Array 363 10758 0.0337423 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARK1 Arg459Gly R459G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PYCR2 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DISC1 Arg41Trp R41W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HEATR1 Asp957Gly D957G not reviewed Insufficiently evaluated not reviewed unknown Array rs16833953 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - RGS7 Tyr264His Y264H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR64 Val619Ala V619A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCCPDH Tyr264Cys Y264C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 6 Y 0 N - - C1ORF229 Gly90Arg G90R not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PFKP Val344Ile V344I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.106 - - -4 - 0 N - - CALML3 Glu32Gln E32Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2231420 84 10758 0.00780814 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - ANKRD16 Gly30Arg G30R not reviewed Insufficiently evaluated not reviewed unknown Array rs3750659 152 8616 0.0176416 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM107B Met19Val M19V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRDMT1 GlnValValAlaAla28Del QVVAA28Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ENKUR Gln177Arg Q177R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ARMC4 Arg787Cys R787C not reviewed Insufficiently evaluated not reviewed unknown Array rs35242712 162 10758 0.0150586 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - SVIL AsnArg1144ArgLys NR1144RK not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1462 Trp1346Arg W1346R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - C10ORF68 Asp166Asn D166N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NRP1 Ser524Leu S524L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD30A Thr590Ile T590I not reviewed Insufficiently evaluated not reviewed unknown Array rs41276124 4 9420 0.000424628 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF37A Glu70Gln E70Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 1 N - - RBP3 Arg462Cys R462C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - FRMPD2 Thr150Met T150M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - C10ORF71 Asn208Lys N208K not reviewed Insufficiently evaluated not reviewed unknown Array rs4838383 457 10052 0.0454636 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC18A3 Ile426Val I426V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANK3 Arg1468His R1468H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC20 Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1274 Thr345Met T345M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAMTS14 Pro815Arg P815R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM149B1 Ser90Phe S90F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - GRID1 Thr864Ile T864I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - KIF11 Pro642Ala P642A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 2 - 2 N - - CYP2C19 Val331Ile V331I not reviewed Insufficiently evaluated not reviewed unknown Array rs3758581 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GBF1 Met375Thr M375T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.563 - - 2 - 1 N - - SFXN2 Met235Thr M235T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SH3PXD2A Ala363Val A363V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRAP Glu1067Lys E1067K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - PNLIPRP3 Gln370Arg Q370R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729307 14 10758 0.00130136 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.05 - - 0 - 0 N - - MKI67 Ser3082Leu S3082L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 6 Y 0 N - - ADAM8 Pro739Leu P739L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DRD4 Ala84Thr A84T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10462 0.000286752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DEAF1 Ala436Thr A436T not reviewed Insufficiently evaluated not reviewed unknown Array rs7125451 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 1 - 1 N - - SLC22A18AS Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR51B4 Thr134Ile T134I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBQLNL Thr201Met T201M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DNHD1 His351Gln H351Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - DCHS1 Arg353Gln R353Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - GVINP1 Cys1603Arg C1603R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OTOG Arg252His R252H not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRMT3 Leu440Val L440V not reviewed Insufficiently evaluated not reviewed unknown Array rs3758805 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.192 - - 0 - 0 N - - KIF18A Lys496Gln K496Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - -2 - 1 N - - METT5D1 Thr67Ala T67A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ELF5 Glu128Lys E128K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGBL2 Arg620Trp R620W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - NUP160 Ala40Thr A40T not reviewed Insufficiently evaluated not reviewed unknown Array rs2305984 4 126 0.031746 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8I2 Asn121Ser N121S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR5M3 Gly163Ser G163S not reviewed Insufficiently evaluated not reviewed unknown Array rs17150664 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP4K2 Gln334His Q334H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - ATG2A Ala627Val A627V not reviewed Insufficiently evaluated not reviewed unknown Array rs2285347 1 10688 9.3562e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - NAALADL1 Val690Ile V690I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - YIF1A Pro130Arg P130R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - IGHMBP2 Gly495Ser G495S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - NUMA1 Gln433Glu Q433E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - ARHGEF17 Arg479Cys R479C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - RNF169 Arg348His R348H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CCDC82 Lys128Arg K128R not reviewed Insufficiently evaluated not reviewed unknown Array rs3748261 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DYNC2H1 Ile2526Val I2526V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACAT1 Ala281Thr A281T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.906 Y - 1 - 3 N - - C11ORF1 Lys49Gln K49Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11540721 9 10758 0.000836586 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCG4 Val32Met V32M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10G4 Tyr101Cys Y101C not reviewed Insufficiently evaluated not reviewed unknown Array rs4474449 6 126 0.047619 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.063 - - 6 Y 0 N - - OR10G7 Val218Gly V218G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 8 Y 2 N - - SNX19 Gly416Cys G416C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.44 - - 7 Y 1 N - - GDF3 Val328Leu V328L not reviewed Insufficiently evaluated not reviewed unknown Array rs2302516 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.491 - - 0 - 1 N - - FAM90A1 Arg5His R5H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - HEBP1 Arg150His R150H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 1 - 1 N - - NELL2 Val125Ile V125I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRT75 Ile73Val I73V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR6C74 Asp87Val D87V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 8 Y 0 N - - OR6C75 Ser36Gly S36G not reviewed Insufficiently evaluated not reviewed unknown Array rs72482251 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - OR6C2 Pro181Ala P181A not reviewed Insufficiently evaluated not reviewed unknown Array rs11171466 6 10756 0.000557828 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - 2 - 2 N - - OR6C4 Tyr179Cys Y179C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ERBB3 Lys498Ile K498I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.356 - - 6 Y 1 N - - APOF Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK094231 Thr16Ile T16I not reviewed Insufficiently evaluated not reviewed unknown Array rs17854829 3 118 0.0254237 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLI1 Gly1012Val G1012V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229300 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 8 Y 2 N - - SRGAP1 His274Tyr H274Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SRGAP1 Val512Ile V512I not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRIP1 Leu409Trp L409W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMCC3 Asp90Asn D90N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - FGD6 Met109Val M109V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - BC064342 Gly126Arg G126R not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HCFC2 Ser623Asn S623N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAO Pro132His P132H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GIT2 Ala552Val A552V not reviewed Insufficiently evaluated not reviewed unknown Array rs11068997 591 10758 0.0549359 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - ANKRD13A Leu505Pro L505P not reviewed Insufficiently evaluated not reviewed unknown Array rs2287174 813 10758 0.0755717 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - OAS3 Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR66 Gly62GluLys G62EK not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HIP1R Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.162 - - 0 - 0 N - - DHX37 Ser831Gly S831G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX37 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TMEM132B Val413Ile V413I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9908 0.000100928 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EP400 Pro671Ser P671S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EP400 Pro2501Leu P2501L not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DDX51 Ser260Asn S260N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NOC4L Arg443His R443H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10700 9.3457e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PARP4 Glu1674Val E1674V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RNF17 Ser13Ala S13A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PABPC3 Ser227Gly S227G not reviewed Insufficiently evaluated not reviewed unknown Array rs75314628 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTMR6 Asn117Ser N117S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - FLT1 Glu477Lys E477K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF18 Thr35Asn T35N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLEU7 Pro43Ala P43A not reviewed Insufficiently evaluated not reviewed unknown Array 1 6258 0.000159795 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - 2 - 1 N - - FAM124A Ala133Thr A133T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLITRK5 Leu610Gln L610Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - DOCK9 Thr1573Ser T1573S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -2 - 2 N - - ZIC5 Asn621Ser N621S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAOA Lys62Glu K62E not reviewed Insufficiently evaluated not reviewed unknown Array rs9558562 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCF2L Lys753Gln K753Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - -2 - 0 N - - MCF2L Gly1057Arg G1057R not reviewed Insufficiently evaluated not reviewed unknown Array rs12429945 30 7810 0.00384123 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMCO3 Pro14Leu P14L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 7 Y 1 N - - ARHGEF40 Ala1196Thr A1196T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFHX2 Trp497Leu W497L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DHRS4L1 Lys3Met K3M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF21 Glu169Del E169Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NYNRIN Arg1541Gln R1541Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - RTN1 Arg499Trp R499W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - RTN1 Lys299Asn K299N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MAP3K9 Val773Ile V773I not reviewed Insufficiently evaluated not reviewed unknown Array rs3814874 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAPLN Arg396His R396H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF43 Asn842Ser N842S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM161B Arg317Cys R317C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LTBP2 Arg1429Gln R1429Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCF1 Met177Val M177V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.496 - - 0 - 1 N - - FAM164C His406Asp H406D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VIPAR Leu484Phe L484F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SPTLC2 Arg326His R326H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 1 - 0 N - - SPTLC2 Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF159 Ala448Thr A448T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATG2B Arg1701Ser R1701S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK7 Glu616Lys E616K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - KIF26A Arg1132His R1132H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - PLD4 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - AHNAK2 Ala3693Pro A3693P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - 2 - 1 N - - AHNAK2 Asp3341Glu D3341E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10018 0.000399281 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.158 - - -2 - 0 N - - AHNAK2 Ala3338Val A3338V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10022 0.000299341 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AHNAK2 Val1947Gly V1947G not reviewed Insufficiently evaluated not reviewed unknown Array 80 9864 0.0081103 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AHNAK2 Gln1639Arg Q1639R not reviewed Insufficiently evaluated not reviewed unknown Array 454 9724 0.0466886 7 0 9 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK2 Val1579Leu V1579L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - AHNAK2 Ala1538Thr A1538T not reviewed Insufficiently evaluated not reviewed unknown Array 67 9806 0.00683255 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AHNAK2 Arg1144Gln R1144Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9930 0.000201409 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.78 - - 0 - 1 N - - C14ORF80 Val7Leu V7L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGHE Ser13Pro S13P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCG5 Met66Leu M66L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EIF2AK4 Phe1329Val F1329V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 3 - 2 N - - BAHD1 Glu26Gly E26G not reviewed Insufficiently evaluated not reviewed unknown Array rs3743143 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - AK291344 Leu114Phe L114F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - LTK Arg508Ser R508S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CALML4 Thr154Lys T154K not reviewed Insufficiently evaluated not reviewed unknown Array rs2280217 71 9988 0.00710853 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - GRAMD2 Gly269Ala G269A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - CSK Arg398Gln R398Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34616395 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.344 - - 0 - 1 N - - TMED3 Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10730 0.000559179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNM Ser1359Leu S1359L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LUC7L Arg296Gln R296Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF11 Pro396Ser P396S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHOT2 Gln318Arg Q318R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10744 0.000279225 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TPSD1 Pro179Thr P179T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 4 Y 2 N - - PTX4 Val405Met V405M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGFALS Glu198Val E198V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - NOXO1 Arg229Pro R229P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 5 Y 2 N - - SRRM2 Ala2523Gly A2523G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - NMRAL1 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array rs3747582 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - PPL Val1643Ala V1643A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARN Gly581Arg G581R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9780 0.000204498 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GDE1 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - NM_014711 Glu451Del E451Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GP2 Val429Met V429M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC7A5P2 Arg185Pro R185P not reviewed Insufficiently evaluated not reviewed unknown Array rs518428 5 118 0.0423729 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC7A5P2 Ser178Cys S178C not reviewed Insufficiently evaluated not reviewed unknown Array rs517733 5 124 0.0403226 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC7A5P2 Lys77Arg K77R not reviewed Insufficiently evaluated not reviewed unknown Array rs12447755 5 124 0.0403226 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLC7A5P2 Pro72Ser P72S not reviewed Insufficiently evaluated not reviewed unknown Array rs514970 4 124 0.0322581 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VWA3A Glu458Lys E458K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VWA3A Ala478Thr A478T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCNN1B Val434Met V434M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 0 - 1 N - - NM_022097 Asp128Tyr D128Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KIAA0556 Lys823Asn K823N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC012355 Arg148Cys R148C not reviewed Insufficiently evaluated not reviewed unknown Array rs2301143 2 50 0.04 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK125843 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array rs689706 2 112 0.0178571 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK125843 Asn82Lys N82K not reviewed Insufficiently evaluated not reviewed unknown Array rs689942 4 114 0.0350877 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCC11 AspThrLeuIleGlnArgThrIleArg1313Del DTLIQRTIR1313Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR97 Ala430Thr A430T not reviewed Insufficiently evaluated not reviewed unknown Array rs2290178 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CDH8 Pro286Arg P286R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.825 - - 5 Y 1 N - - KIAA0895L Thr174Met T174M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10122 0.000296384 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PLEKHG4 His853Tyr H853Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.924 Y - -1 - 3 N - - NIP7 Tyr46Cys Y46C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SF3B3 Ser584Cys S584C not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.233 - - 3 - 1 N - - HYDIN Val2114Ile V2114I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10096 0.000297147 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - HYDIN Ser33Gly S33G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.82 - - 2 - 1 N - - ZFHX3 Ser3482Ile S3482I not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKD1L2 Thr1446Lys T1446K not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKD1L2 Arg1436Gln R1436Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10112 0.000791139 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Arg1421Ser R1421S not reviewed Insufficiently evaluated not reviewed unknown Array 196 10240 0.0191406 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF469 Gly497Arg G497R not reviewed Insufficiently evaluated not reviewed unknown Array rs28723506 270 3006 0.0898204 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.235 - - 6 Y 0 N - - IL17C Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10676 9.3668e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - CENPBD1 Glu118Asp E118D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - TUSC5 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP2A3 Arg674Cys R674C not reviewed Insufficiently evaluated not reviewed unknown Array rs9895012 198 10744 0.0184289 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ALOX15 Tyr15His Y15H not reviewed Insufficiently evaluated not reviewed unknown Array rs13306168 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSMB6 Val233Ile V233I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CLDN7 Pro202Leu P202L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - SENP3 Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MFSD6L Leu85Ile L85I not reviewed Insufficiently evaluated not reviewed unknown Array 3 74 0.0405405 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.914 - - -2 - 2 N - - MYH13 Glu1540Lys E1540K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.478 - - 0 - 1 N - - BC050323 Arg826Lys R826K not reviewed Insufficiently evaluated not reviewed unknown Array rs3744128 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FBXW10 Val903Ala V903A not reviewed Insufficiently evaluated not reviewed unknown Array rs1026261 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH3A1 Gly309Glu G309E not reviewed Insufficiently evaluated not reviewed unknown Array rs3744692 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PROCA1 Arg272Gln R272Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PROCA1 Arg88Gln R88Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 0 - 1 N - - GPR179 Pro1784Thr P1784T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.362 - - 4 Y 1 N - - GPR179 Pro432Ser P432S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CDK12 Pro1086Leu P1086L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT23 Ala41Ser A41S not reviewed Insufficiently evaluated not reviewed unknown Array rs34861030 100 10758 0.00929541 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC043620 Gly233Arg G233R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MLX Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.33 - - 2 - 1 N - - AOC2 Glu427Asp E427D not reviewed Insufficiently evaluated not reviewed unknown Array rs34351794 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - MPP3 Ala519Pro A519P not reviewed Insufficiently evaluated not reviewed unknown Array 1 9588 0.000104297 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - AX747040 Arg309Cys R309C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NM_175882 Arg217His R217H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - NSF Val361Met V361M not reviewed Insufficiently evaluated not reviewed unknown Array rs2074406 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - NSF Thr476Met T476M not reviewed Insufficiently evaluated not reviewed unknown Array 4 122 0.0327869 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.513 - - 2 - 1 N - - OSBPL7 Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - NGFR Val77Met V77M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - 0 - 0 N - - HILS1 Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.614 - - 0 - 1 N - - BC114339 Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNFT1 Phe4Cys F4C not reviewed Insufficiently evaluated not reviewed unknown Array 19 9930 0.00191339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ICAM2 Arg253Leu R253L not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - APOH Val5Ala V5A not reviewed Insufficiently evaluated not reviewed unknown Array rs3826358 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ABCA5 Trp263Arg W263R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SDK2 Leu1169Val L1169V not reviewed Insufficiently evaluated not reviewed unknown Array rs2270716 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GGA3 Glu219Gln E219Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - C17ORF99 Leu121Val L121V not reviewed Insufficiently evaluated not reviewed unknown Array rs78315359 17 3234 0.00525665 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL832652 Ile1431Val I1431V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC40 Glu382Lys E382K not reviewed Insufficiently evaluated not reviewed unknown Array rs2289532 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - CARD14 Arg883His R883H not reviewed Insufficiently evaluated not reviewed unknown Array rs2289541 14 10700 0.00130841 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - NM_173627 Leu207His L207H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 6 Y 1 N - - CCDC57 Glu173Asp E173D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001039796 Ser90Arg S90R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP192 Val354Ala V354A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 2 N - - ESCO1 Ser19Thr S19T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - AQP4 Ala40Val A40V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.142 - - 2 - 0 N - - CDH2 Asn845Ser N845S not reviewed Insufficiently evaluated not reviewed unknown Array rs2289664 212 10758 0.0197063 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.817 - - 0 - 1 N - - MYO5B Arg882Trp R882W not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SKA1 Gly107Val G107V not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C18ORF54 Thr242Ile T242I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VPS4B Arg366Cys R366C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - CDH7 Gln391His Q391H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZADH2 Tyr132His Y132H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.81 - - -1 - 1 N - - C19ORF6 Pro469Thr P469T not reviewed Insufficiently evaluated not reviewed unknown Array rs1058810 109 9242 0.011794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DOT1L Val881Ala V881A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - C19ORF35 Arg87Trp R87W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10714 9.3335e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF556 Lys229Glu K229E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - RAX2 Ser4Arg S4R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y - 3 - 1 N - - KDM4B Asp65Asn D65N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - PTPRS Pro1360Leu P1360L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 7 Y 0 N - - TNFSF14 Arg26Gln R26Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D3A Asp202Asn D202N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1543 Gly200Arg G200R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 6 Y 1 N - - LASS4 Arg385Cys R385C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 8 Y 0 N - - OR7D2 Met277Leu M277L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -3 - 2 N - - ZNF823 His138Gln H138Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - ZNF440 Ile344Thr I344T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - ZNF878 Ser50Leu S50L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BEST2 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10418 9.5987e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - PODNL1 Arg44Trp R44W not reviewed Insufficiently evaluated not reviewed unknown Array rs3745467 2 100 0.02 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - AX746734 Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYDE1 Asn732His N732H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - RASAL3 Arg530Gln R530Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CYP4F12 Met506Lys M506K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.601 - - 4 Y 1 N - - EPS15L1 Thr693Met T693M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - 2 - 1 N - - SUGP2 Arg639Gln R639Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - CILP2 Arg369His R369H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.699 - - 1 - 1 N - - ZNF43 Glu394Lys E394K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF208 Lys591Arg K591R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.69 - - -3 - 1 N - - ZNF99 Lys969Glu K969E not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF536 Thr874Ala T874A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSHZ3 Ser918Leu S918L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.636 - - 6 Y 1 N - - FAM187B Glu170Lys E170K not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.744 - - 0 - 1 N - - ZBTB32 Cys356Tyr C356Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2234373 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - 6 Y 1 N - - ZNF529 Pro332Leu P332L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - AKT2 Leu49Pro L49P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 7 Y 0 N - - NUMBL GlnGln445Del QQ445Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 24 0.0833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - PLEKHA4 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10634 0.000188075 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PLEKHA4 Thr234Ser T234S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VRK3 SerCysSerProGlnLysThr127Del SCSPQKT127Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3217382 5 126 0.0396825 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR32 Gly10Ala G10A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - CEACAM18 LeuThr221HisAla LT221HA not reviewed Insufficiently evaluated not reviewed unknown Array rs8106673 8 128 0.0625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZNF350 Met37Ile M37I not reviewed Insufficiently evaluated not reviewed unknown Array rs4987241 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF808 Gly99Glu G99E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF816 Glu590Gln E590Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740548 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF677 Glu209Asp E209D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - -2 - 1 N - - ZNF525 Lys16Thr K16T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYADM Val26Met V26M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.298 - - 0 - 1 N - - ZNF460 Ala544Thr A544T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF416 Ser167Leu S167L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 6 Y 0 N - - ZNF551 Ser411Ala S411A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AF086563 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array rs2889009 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK056696 Arg132Trp R132W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF606 Thr14Met T14M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MSGN1 Trp27Cys W27C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - C2ORF39 Ile507Leu I507L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC121 Ile170Met I170M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THADA Glu1741Lys E1741K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10000 0.003 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - WDR54 Gly230Glu G230E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - C2ORF89 Arg379Gln R379Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2288352 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2D6 Gly129Arg G129R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - PTCD3 Ser368Leu S368L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - KDM3A Ile625Thr I625T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - 3 - 1 N - - RPIA His266Tyr H266Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y - -1 - 1 N - - TEKT4 Ala2ValGlnThrAspValLeuLeuProGluProValPro A2VQTDVLLPEPVP not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TEKT4 Val5Met V5M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - NM_001080535 Cys132Arg C132R not reviewed Insufficiently evaluated not reviewed unknown Array rs3731937 9 78 0.115385 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - LMAN2L Val204Ile V204I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - ANKRD36B Ser76Leu S76L not reviewed Insufficiently evaluated not reviewed unknown Array 2 66 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - ANKRD36B Lys72Thr K72T not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - ANKRD36B Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 0 - 0 N - - IL1RL2 Ala471Thr A471T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - MARCO Pro303Leu P303L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SFT2D3 Lys31Asn K31N not reviewed Insufficiently evaluated not reviewed unknown Array 41 6070 0.00675453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 1 - 0 N - - NR_002826 Ser271Arg S271R not reviewed Insufficiently evaluated not reviewed unknown Array rs3888997 6 72 0.0833333 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - YSK4 Arg473Lys R473K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SCN3A Val1396Met V1396M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.403 - - 0 - 1 N - - C2ORF77 Lys396Arg K396R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9544 0.000314333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - METAP1D Gly14Val G14V not reviewed Insufficiently evaluated not reviewed unknown Array rs10497377 96 10756 0.00892525 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - NFE2L2 Lys68Asn K68N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - 1 - 1 N - - ITGA4 Lys838Arg K838R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NRP2 Ile445Leu I445L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - MAP2 Ala782Val A782V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNS1 Asp1148Asn D1148N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNS1 Arg466Cys R466C not reviewed Insufficiently evaluated not reviewed unknown Array rs3815849 129 10758 0.0119911 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC042133 Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array rs28900693 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPP2 Asp36Glu D36E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - -2 - 0 N - - MLPH Asp163Asn D163N not reviewed Insufficiently evaluated not reviewed unknown Array rs3751108 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR6B2 Thr222Ile T222I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - C2ORF54 Arg28Leu R28L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SNED1 Arg690His R690H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TMC2 Lys850Del K850Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FASTKD5 Ala698Val A698V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - CST1 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASXL1 Ser1230Phe S1230F not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHCY Val68Ile V68I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DYNLRB1 Thr56Ser T56S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - BPI Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array rs5743500 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DHX35 Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - EMILIN3 Glu208Lys E208K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 0 - 1 N - - CD40 Pro227Ala P227A not reviewed Insufficiently evaluated not reviewed unknown Array rs11086998 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.054 Y - 2 - 1 N - - FAM65C Thr329Met T329M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.517 - - 2 - 1 N - - ZBP1 Ala129Thr A129T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - 1 - 0 N - - NPEPL1 Pro238Ser P238S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYCP2 Lys669Gln K669Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 1 N - - SS18L1 Pro87Ser P87S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OGFR Gln194Arg Q194R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - NM_001037335 His1583Gln H1583Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -1 - 2 N - - ARFRP1 Ser156Asn S156N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001013729 Trp24Arg W24R not reviewed Insufficiently evaluated not reviewed unknown Array rs72490151 6 118 0.0508475 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LTN1 Ala813Val A813V not reviewed Insufficiently evaluated not reviewed unknown Array rs57646126 5 128 0.0390625 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - URB1 Asp1169His D1169H not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ICOSLG Pro294Leu P294L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9794 0.000408413 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - C21ORF29 Arg291Gln R291Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB020626 Thr249Ile T249I not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIRA Ala581Thr A581T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AJ318021 Ser62Arg S62R not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MMP11 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array rs28363647 4 10720 0.000373134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - MTMR3 Lys204Thr K204T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - TCN2 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - TCN2 Thr333Met T333M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - SLC5A4 Met316Leu M316L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.113 - - -3 - 0 N - - FOXRED2 Ile429Met I429M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.181 - - -1 - 0 N - - IL2RB Arg69Gly R69G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.506 - - 6 Y 1 N - - CDC42EP1 Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10678 0.000374601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 2 - 2 N - - TRIOBP Lys413Arg K413R not reviewed Insufficiently evaluated not reviewed unknown Array 2 58 0.0344828 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -3 - 1 N - - MICALL1 Tyr678His Y678H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - APOBEC3B Tyr350Asp Y350D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10714 9.3335e-05 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.048 - - 7 Y 0 N - - APOBEC3B Arg351His R351H not reviewed Insufficiently evaluated not reviewed unknown Array rs1053813 10 10714 0.000933358 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - APOBEC3B Glu363Asp E363D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10716 0.000653228 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - MCHR1 Gly401Arg G401R not reviewed Insufficiently evaluated not reviewed unknown Array rs34214100 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 6 Y 0 N - - PPP6R2 Ala806Pro A806P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OXTR Arg376Cys R376C not reviewed Insufficiently evaluated not reviewed unknown Array rs35062132 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OGG1 Arg154His R154H not reviewed Insufficiently evaluated not reviewed unknown Array rs56053615 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TTLL3 Lys18Gln K18Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9812 0.000101916 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - IL17RC GlyLysSerTrp87Del GKSW87Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TATDN2 Arg23His R23H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TATDN2 Ser351Phe S351F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GRIP2 Gly35Asp G35D not reviewed Insufficiently evaluated not reviewed unknown Array rs17316876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GRIP2 Pro57Ser P57S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TOP2B Thr1486Met T1486M not reviewed Insufficiently evaluated not reviewed unknown Array rs61751634 13 9508 0.00136727 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACAA1 Asn392Ser N392S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - MYRIP Arg196Gln R196Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 1 N - - LIMD1 Ala462Ser A462S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - DALRD3 Val364Ile V364I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BSN Pro1211Ser P1211S not reviewed Insufficiently evaluated not reviewed unknown Array rs74603066 5 10722 0.00046633 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - RNF123 Arg1207Gln R1207Q not reviewed Insufficiently evaluated not reviewed unknown Array rs77599182 9 10756 0.000836742 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.568 - - 0 - 1 N - - STAB1 Ala2477Val A2477V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10722 0.000652863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FILIP1L Pro1086Ala P1086A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - AK127584 Asp263Asn D263N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - FAM55C Thr507Ile T507I not reviewed Insufficiently evaluated not reviewed unknown Array rs3796277 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - NFKBIZ Asn564Ser N564S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - POLQ Arg6Gly R6G not reviewed Insufficiently evaluated not reviewed unknown Array rs55943551 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARGFX Pro12Ser P12S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - 3 - 2 N - - PDIA5 Met176Leu M176L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -3 - 2 N - - CCDC14 Ser805Phe S805F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C3ORF56 Ser117Asn S117N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9750 0.000102564 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCM2 Val667Met V667M not reviewed Insufficiently evaluated not reviewed unknown Array rs2307311 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - PLXND1 Gly531Val G531V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10744 0.000744601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NEK11 Tyr123Cys Y123C not reviewed Insufficiently evaluated not reviewed unknown Array rs55806123 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 6 Y 0 N - - ACPP Stop387Gln X387Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DZIP1L His580Arg H580R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.148 - - 1 - 0 N - - FAM194A Arg158Cys R158C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.141 - - 8 Y 0 N - - IGSF10 Asn2375Tyr N2375Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - FNDC3B Asn841Ser N841S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.756 - - 0 - 1 N - - MAP3K13 Gly796Val G796V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC4 Ala4554Thr A4554T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF168 Ala344Thr A344T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - RNF168 Ala161Val A161V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - C3ORF43 Val99Ala V99A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF718 Phe311Leu F311L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF718 Ser91Cys S91C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001040071 Gly172Ala G172A not reviewed Insufficiently evaluated not reviewed unknown Array 3 8 0.375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FBXL5 Ala263Thr A263T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - PI4K2B Glu335Del E335Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC34A2 Gly464Ser G464S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 2 - 2 N - - SLC34A2 Ser671Ile S671I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - TLR1 Ile221Phe I221F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 2 - 1 N - - UGT2B10 Pro283Ala P283A not reviewed Insufficiently evaluated not reviewed unknown Array rs1976666 15 10744 0.00139613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.78 - - 2 - 1 N - - UGT2B28 Met390Ile M390I not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - -1 - 1 N - - C4ORF35 Arg281Trp R281W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS3 Tyr219His Y219H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MRPL1 Pro283Arg P283R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - HSD17B13 Arg244Gly R244G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPARCL1 Ile305Thr I305T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALPK1 Ser1169Cys S1169C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - ANKRD50 Arg529Gln R529Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM160A1 Gly553Arg G553R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX60 Leu189Phe L189F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HPGD Asn227Ser N227S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR17 Arg640Gln R640Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - CEP72 Glu444Lys E444K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - TTC23L Ala119Thr A119T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9886 0.000404612 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - HMGCS1 Ser293Thr S293T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPWD1 Met315Arg M315R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 4 Y 2 N - - SREK1 Leu574Phe L574F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAST4 His64Arg H64R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLK Ile612Val I612V not reviewed Insufficiently evaluated not reviewed unknown Array rs3822587 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SV2C Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array rs10070440 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 1 N - - CMYA5 Arg790Cys R790C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10102 9.899e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - TMEM161B Val383Ile V383I not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.882 - - -4 - 2 N - - SEMA6A Asp567Glu D567E not reviewed Insufficiently evaluated not reviewed unknown Array rs12516652 18 9836 0.00183001 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.988 - - -2 - 2 N - - ACSL6 Ile211Val I211V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC4A9 Ile878Thr I878T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APBB3 Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NDUFA2 Gly9Pro G9P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHB16 Pro499Ser P499S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - PCDHB13 Met350Thr M350T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 2 - 2 N - - SLC25A2 Tyr138Cys Y138C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCGB3A2 Leu23Val L23V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.422 - - 0 - 1 N - - CCDC69 Gly35Ala G35A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - FAM196B Arg240His R240H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.54 - - 1 - 1 N - - SH3PXD2B Phe216Ser F216S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - 5 Y 0 N - - N4BP3 Arg332Cys R332C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10322 0.000775043 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NQO2 Thr224Ala T224A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TXNDC5 Arg422Ser R422S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - DQ577059 Ile391Thr I391T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC032356 Lys154Arg K154R not reviewed Insufficiently evaluated not reviewed unknown Array rs4713202 7 128 0.0546875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - KIAA0319 Arg330Met R330M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - 4 Y 0 N - - HLA-A Tyr123Cys Y123C not reviewed Insufficiently evaluated not reviewed unknown Array rs1136697 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - HLA-C Ser140Tyr S140Y not reviewed Insufficiently evaluated not reviewed unknown Array rs713032 5 42 0.119048 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - HLA-C Asp33Phe D33F not reviewed Insufficiently evaluated not reviewed unknown Array rs1071650 6 90 0.0666667 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - HLA-C Arg30Lys R30K not reviewed Insufficiently evaluated not reviewed unknown Array rs1131151 97 7426 0.0130622 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRRC2A Gly1884Ser G1884S not reviewed Insufficiently evaluated not reviewed unknown Array rs9366785 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_021160 Pro421Ala P421A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2 Arg734Cys R734C not reviewed Insufficiently evaluated not reviewed unknown Array rs4151648 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - C4B Leu141Val L141V not reviewed Insufficiently evaluated not reviewed unknown Array rs9296005 2 110 0.0181818 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4B Ala1207Val A1207V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229403 5 96 0.0520833 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - C4B Arg1210Leu R1210L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229409 5 96 0.0520833 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TNXB Cys4058Trp C4058W not reviewed Insufficiently evaluated not reviewed unknown Array rs4959086 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - NOTCH4 Ser338Gly S338G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCP11 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SCUBE3 Ser410Leu S410L not reviewed Insufficiently evaluated not reviewed unknown Array rs3800381 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ETV7 Pro212Leu P212L not reviewed Insufficiently evaluated not reviewed unknown Array rs2234079 303 10754 0.0281756 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - DNAH8 Glu633Gly E633G not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 6 Y 0 N - - LRFN2 Asp770Asn D770N not reviewed Insufficiently evaluated not reviewed unknown Array rs3734559 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -1 - 0 N - - NCR2 Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - PTK7 Arg188Gln R188Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - CUL9 Val1479Met V1479M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - TJAP1 Gly243Arg G243R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TDRD6 Asp470Asn D470N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - KCNQ5 His928Gln H928Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - GABRR1 Arg387Cys R387C not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UBE2J1 Ile302Leu I302L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 2 N - - CASP8AP2 Asp980Gly D980G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VGLL2 Pro128Ala P128A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10744 0.00018615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - BC032958 Pro120Leu P120L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NHSL1 Ser941Thr S941T not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CCDC28A Arg32His R32H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - C6ORF94 Lys64Thr K64T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ULBP1 Lys167Met K167M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.441 - - 4 Y 1 N - - PLEKHG1 Gly723Ala G723A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - AKAP12 Gly60Asp G60D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - C6ORF97 Glu568Asp E568D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TIAM2 Pro1625Ser P1625S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZDHHC14 Thr334Met T334M not reviewed Insufficiently evaluated not reviewed unknown Array rs8180688 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP3K4 Asn195His N195H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPS6KA2 Asp651Asn D651N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INTS1 Ser2082Asn S2082N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KDELR2 Tyr196Phe Y196F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - -4 - 0 N - - C7ORF46 Tyr17Asp Y17D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NFE2L3 Lys621Glu K621E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - DPY19L2P1 Ser123Tyr S123Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62464662 3 116 0.0258621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NPC1L1 Ala368Val A368V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NACAD Thr967Pro T967P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABCA13 Glu686Ala E686A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQ581928 Cys100Arg C100R not reviewed Insufficiently evaluated not reviewed unknown Array 1 56 0.0178571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CLIP2 Gly13Arg G13R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - PCLO Arg904His R904H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCB4 Thr651Asn T651N not reviewed Insufficiently evaluated not reviewed unknown Array rs45476795 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 1 - 1 N - - AKAP9 Met3743Ile M3743I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXO24 Glu3Gly E3G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 6 Y 0 N - - UFSP1 Leu141Ser L141S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC17 Ile1356Thr I1356T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Asn1741Thr N1741T not reviewed Insufficiently evaluated not reviewed unknown Array rs71273403 7 90 0.0777778 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PLOD3 Arg468Gly R468G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 1 N - - SRPK2 Asn192Ser N192S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3CG Val1014Ile V1014I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - TMEM168 Val23Ile V23I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - C7ORF58 AlaVal551GlyPhe AV551GF not reviewed Insufficiently evaluated not reviewed unknown Array rs41281692 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRZ1 Cys1445Tyr C1445Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OPN1SW Ile302Val I302V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - KIAA1549 Pro56Leu P56L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBN2 Asp553Asn D553N not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATG9B Leu336Phe L336F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCPH1 Leu405Pro L405P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - ANGPT2 Val235Ala V235A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - AGPAT5 Thr175Arg T175R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - NM_001080826 Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array rs34346032 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - LZTS1 Arg133Trp R133W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GFRA2 Pro443Ser P443S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9990 0.0001001 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - REEP4 Arg149Gln R149Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10738 0.000558763 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - PIWIL2 Arg90Trp R90W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - DOCK5 Ser747Pro S747P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOCK5 Met987Leu M987L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -3 - 2 N - - TEX15 Arg915Lys R915K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CR611604 Asn125Ser N125S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF45 Pro504Leu P504L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SULF1 Arg512His R512H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 1 N - - NCOA2 Asn412Thr N412T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.742 - - 1 - 1 N - - BC127738 Arg161Cys R161C not reviewed Insufficiently evaluated not reviewed unknown Array rs59778496 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRRCC1 Glu1002Asp E1002D not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - KIAA1429 Ile1307Val I1307V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C8ORF38 Gly28Ala G28A not reviewed Insufficiently evaluated not reviewed unknown Array 3 6314 0.000475134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POP1 Glu460Ala E460A not reviewed Insufficiently evaluated not reviewed unknown Array rs2306131 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBR5 Asn95Ser N95S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAMD12 Lys39Thr K39T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - RHPN1 Arg437Gln R437Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.718 - - 0 - 1 N - - TIGD5 Asp524Asn D524N not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPPK1 Arg2339Gln R2339Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Arg2058Trp R2058W not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA2026 Arg1783Trp R1783W not reviewed Insufficiently evaluated not reviewed unknown Array 3 9876 0.000303766 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - SPAG8 ArgSer15Del RS15Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3830980 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLR1E Met332Val M332V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD18A Leu990Phe L990F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.263 - - 0 - 1 N - - SLC28A3 Pro221Gln P221Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11140503 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - BARX1 Ala111Thr A111T not reviewed Insufficiently evaluated not reviewed unknown Array 27 9458 0.00285473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPDC1 Arg39Gln R39Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TDRD7 Asn1061Lys N1061K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CORO2A Arg8Trp R8W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SLC44A1 Ile455Leu I455L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - -2 - 1 N - - C9ORF152 Leu130Phe L130F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF84 Glu961Lys E961K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF43 Lys402Arg K402R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - COL27A1 Val1854Ala V1854A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 2 N - - ASTN2 Asp291Val D291V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RAB14 Thr3Ala T3A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR1B1 Arg142Trp R142W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - DENND1A Pro799Ser P799S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.861 - - 3 - 2 N - - OLFML2A Ser29Arg S29R not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 3 - 0 N - - FAM129B Glu233Lys E233K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS13 Thr339Arg T339R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10658 0.000469131 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.863 Y - 3 - 3 N - - SLC2A6 Gly131Arg G131R not reviewed Insufficiently evaluated not reviewed unknown Array 2 8814 0.000226911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - MAN1B1 Asp674Asn D674N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -1 - 2 N - - TPRN Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXD3 Pro626Leu P626L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10408 0.000192159 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - AF391805 Ser143Pro S143P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP17A Lys510Arg K510R not reviewed Insufficiently evaluated not reviewed unknown Array rs28429503 5 10744 0.000465376 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -3 - 0 N - - CXORF58 Thr317Met T317M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEB4 Met330Thr M330T not reviewed Insufficiently evaluated not reviewed unknown Array 4 8759 0.000456673 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRPX Arg356Gln R356Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 0 - 1 N - - PHF16 Pro109Thr P109T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ZNF182 Asn75Lys N75K not reviewed Insufficiently evaluated not reviewed unknown Array 57 8761 0.00650611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRO Thr526Met T526M not reviewed Insufficiently evaluated not reviewed unknown Array 5 8611 0.000580652 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACRC Thr662Ile T662I not reviewed Insufficiently evaluated not reviewed unknown Array rs2280962 1 8761 0.000114142 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.158 - - 3 - 0 N - - NHSL2 Glu9Lys E9K not reviewed Insufficiently evaluated not reviewed unknown Array rs72630038 3 92 0.0326087 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR591764 Asp65Asn D65N not reviewed Insufficiently evaluated not reviewed unknown Array rs17337137 4 92 0.0434783 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYLC1 His648Arg H648R not reviewed Insufficiently evaluated not reviewed unknown Array 50 8759 0.00570841 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.763 - - 1 - 1 N - - ARMCX6 Ser155Gly S155G not reviewed Insufficiently evaluated not reviewed unknown Array rs35319186 781 8570 0.0911319 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.799 - - 2 - 0 N - - NXF3 Phe393Tyr F393Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VSIG1 Pro318Leu P318L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - COL4A6 Ala1199Ser A1199S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP1B4 Val48Ala V48A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072452 3 8761 0.000342426 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.08 - - 2 - 0 N - - SMARCA1 Arg670Trp R670W not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AL157420 Leu130Shift L130Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RYR2 Ala2603Thr A2603T not reviewed Insufficiently evaluated not reviewed unknown Array rs59331340 1 9568 0.000104515 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HPS6 Arg265Shift R265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 3 N - - PDZD8 Val861Shift V861Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMPD1 AlaLeu48Del AL48Del not reviewed Insufficiently evaluated not reviewed unknown Array rs61729852 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - AIP Pro232Leu P232L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 7 Y 3 N - - TCIRG1 Gly159Glu G159E not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.03 Y - 6 Y 1 N - - CACNA1C Gln1964Arg Q1964R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KRT82 Gly13Shift G13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RBMS2 Asp71Shift D71Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MARS Leu71Shift L71Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK055145 Arg129Shift R129Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57655502 1 36 0.0277778 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MIPOL1 Phe146Shift F146Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001101368 Trp14Stop W14X not reviewed Insufficiently evaluated not reviewed unknown Array rs12446322 6 110 0.0545455 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - DNAH2 Ser340Stop S340X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLFN12L Leu159Shift L159Shift not reviewed Insufficiently evaluated not reviewed unknown Array 10 128 0.078125 10 0 10 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MEOX1 Ser168Shift S168Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA10 Gln717Shift Q717Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK057217 Gln310Stop Q310X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MARK4 Ser458Shift S458Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACPT Val21Shift V21Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF749 Thr744Shift T744Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59258956 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK094748 Ser209Shift S209Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35307635 2 106 0.0188679 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CAD Leu116Shift L116Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 92 0.0652174 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SRD5A2 Gln6Stop Q6X not reviewed Insufficiently evaluated not reviewed unknown Array rs9332960 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - NEB Asp305Gly D305G not reviewed Insufficiently evaluated not reviewed unknown Array rs36105240 2 9820 0.000203665 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TANC1 Ser85Shift S85Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHRNA1 Glu181Shift E181Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TTN Thr32793Asn T32793N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Arg4892Gln R4892Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9690 0.000103199 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Thr4326Ile T4326I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - C2ORF57 Ala266Shift A266Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60437000 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PXMP4 Asn120Shift N120Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CTSA Leu37Del L37Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 68 0.0294118 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PRDM15 Pro125Shift P125Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIF15 Ser1275Shift S1275Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNB GluGly587AspCys EG587DC not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PDIA5 Lys37Shift K37Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PHC3 Ser403Stop S403X not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CC2D2A Lys167Asn K167N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.713 Y Y 1 - 3 N - - CC2D2A Arg1440Lys R1440K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - NSUN7 Ile342Shift I342Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEUROG2 Gly176Shift G176Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAMTS19 Asn198Shift N198Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDHB17 Arg478Shift R478Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 110 0.0272727 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM14B Thr73Shift T73Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JARID2 Glu186Shift E186Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRIK2 Asn849Shift N849Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PMS2 His479Gln H479Q not reviewed Insufficiently evaluated not reviewed unknown Array rs63750685 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CDC14C Met66Shift M66Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZAN Ala2131Shift A2131Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LY96 Ser8Shift S8Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRMT12 Asp195Shift D195Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GABBR2 Gln889Shift Q889Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DEC1 Lys42Stop K42X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATRX Glu2351Asp E2351D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TAS1R3 Arg220Trp R220W not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PLCH2 Gln207His Q207H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FHAD1 Val1235Ala V1235A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - BMP8B Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 8102 0.00345594 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.749 - - 0 - 1 N - - FOXJ3 SerThr336ThrPro ST336TP not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RWDD3 Lys256Del K256Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPYD Ile116Met I116M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - -1 - 3 N - - AMY2B Asp305Glu D305E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 0 N - - IGSF3 Thr408Ala T408A not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDE4DIP Ala272Thr A272T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - HRNR Arg553Gly R553G not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Glu549Gly E549G not reviewed Insufficiently evaluated not reviewed unknown Array 2 82 0.0243902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LCE1F Pro21Thr P21T not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND4B Arg957Cys R957C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 8 Y 2 N - - HSPA6 Gly447Val G447V not reviewed Insufficiently evaluated not reviewed unknown Array rs56366425 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MPZL1 Ala3Gly A3G not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRRC2C Ala235Thr A235T not reviewed Insufficiently evaluated not reviewed unknown Array rs10913157 12 0 12 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAPKAPK2 Leu127Val L127V not reviewed Insufficiently evaluated not reviewed unknown Array 3 100 0.03 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRSS38 Gly247Arg G247R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - OBSCN Ser6626Phe S6626F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 5 Y 0 N - - OR2L8 Gly212Ala G212A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - OR2L8 Ile279Thr I279T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - ANKRD30A Pro793Asn P793N not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD30A Arg795Gly R795G not reviewed Insufficiently evaluated not reviewed unknown Array 4 9394 0.000425803 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC047597 Asp16Asn D16N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - CBARA1 Arg109Gly R109G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TCTN3 Ala309Ser A309S not reviewed Insufficiently evaluated not reviewed unknown Array rs55859130 59 3234 0.0182437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBM20 Arg12Gln R12Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PNLIPRP2 Arg424His R424H not reviewed Insufficiently evaluated not reviewed unknown Array rs62640957 3 9524 0.000314993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK1 Glu1713Asp E1713D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - ADAM8 Gly722Val G722V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAM8 Pro719Leu P719L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9672 0.000103391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA2 Ala495Thr A495T not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - MUC5AC Val5513Leu V5513L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51A2 Arg142Ser R142S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - OR52D1 Phe164Del F164Del not reviewed Insufficiently evaluated not reviewed unknown Array 9 128 0.0703125 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - GVINP1 Lys1630Gln K1630Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GVINP1 His1580Pro H1580P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GVINP1 Cys429Gly C429G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR5M11 Pro282Leu P282L not reviewed Insufficiently evaluated not reviewed unknown Array rs59345582 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.765 - - 7 Y 1 N - - AHNAK Phe2300Leu F2300L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - C11ORF20 Asn105Ser N105S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10290 0.00058309 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1731 Ser2091Pro S2091P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 1 N - - CNTN5 Lys349Asn K349N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9838 0.000101646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - 1 - 0 N - - ALKBH8 Asp653Tyr D653Y not reviewed Insufficiently evaluated not reviewed unknown Array 48 3234 0.0148423 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SIK3 Asp1040Glu D1040E not reviewed Insufficiently evaluated not reviewed unknown Array rs11216163 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ADAMTS8 Ala145Gly A145G not reviewed Insufficiently evaluated not reviewed unknown Array rs35468629 269 8478 0.0317292 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLB1L3 Met639Lys M639K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - TAS2R43 Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array 2 64 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAS2R43 Glu151Gln E151Q not reviewed Insufficiently evaluated not reviewed unknown Array 1187 9346 0.127006 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PRB4 Pro137His P137H not reviewed Insufficiently evaluated not reviewed unknown Array rs12308244 3 64 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOH12CR1 Ser41Cys S41C not reviewed Insufficiently evaluated not reviewed unknown Array rs3741795 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - SOX5 Ser311Asn S311N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - NM_015899 Leu38Ser L38S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - 6 Y 1 N - - MLL2 Arg5224His R5224H not reviewed Insufficiently evaluated not reviewed unknown Array rs3782356 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT76 SerSer544ArgGly SS544RG not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GALNT4 Val196Ile V196I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -4 - 2 N - - CCDC63 Tyr303Phe Y303F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -4 - 2 N - - OAS3 Ala584Thr A584T not reviewed Insufficiently evaluated not reviewed unknown Array rs35508906 1 10098 9.9029e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KNTC1 Met1061Leu M1061L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -3 - 0 N - - EPSTI1 Ser323Leu S323L not reviewed Insufficiently evaluated not reviewed unknown Array rs59267170 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF104 Cys88Tyr C88Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 7854 0.00038197 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - C14ORF73 Ala376Ser A376S not reviewed Insufficiently evaluated not reviewed unknown Array 39 9198 0.00424005 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - X58402 Arg57His R57H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9996 0.00020008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - X58398 Tyr114Cys Y114C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DISP2 Thr41Ala T41A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPIP5K1 Glu942Lys E942K not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPIP5K1 Gly939Cys G939C not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPIP5K1 GluGlu932Val EE932V not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CT62 Arg42His R42H not reviewed Insufficiently evaluated not reviewed unknown Array rs59864115 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACAN Arg502Cys R502C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10300 9.7087e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLYWCH1 Glu100Lys E100K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - BX537921 Ala127Val A127V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C16ORF82 Arg202Gln R202Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - QPRT Gly179Ser G179S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - 2 - 1 N - - ZNF689 Pro69Leu P69L not reviewed Insufficiently evaluated not reviewed unknown Array rs59446493 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM38A Val1258Ile V1258I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM38A Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array rs59550107 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CENPBD1 Ala111Thr A111T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_002943 Val163Met V163M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIK3R6 Ala262Val A262V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9674 0.000206739 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH13 Tyr626Cys Y626C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.22 - - 6 Y 1 N - - SMCR7 Ala261Gly A261G not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 1 - 1 N - - KRTAP1-1 Pro58Arg P58R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10190 0.00245338 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.914 - - 5 Y 2 N - - KRTAP2-1 Arg59Cys R59C not reviewed Insufficiently evaluated not reviewed unknown Array rs12938147 11 1000 0.011 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 2 N - - KRTAP2-2 Cys73Tyr C73Y not reviewed Insufficiently evaluated not reviewed unknown Array 170 2600 0.0653846 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - LRRC37A Leu1342Pro L1342P not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.39 - - 7 Y 1 N - - EPN3 Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - 0 - 1 N - - CCDC45 Ser147Phe S147F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - AK074994 Arg14His R14H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK057217 Pro409Arg P409R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK057217 Arg244Ser R244S not reviewed Insufficiently evaluated not reviewed unknown Array rs59666014 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BAHCC1 Arg2378Trp R2378W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10564 9.4661e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TCEB3B Arg84Gly R84G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF516 Arg741Trp R741W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FGF22 Gly101Ala G101A not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - MEX3D Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PLIN4 Ser626Gly S626G not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VMAC Arg43Pro R43P not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - C19ORF45 Met25Val M25V not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Leu14002Phe L14002F not reviewed Insufficiently evaluated not reviewed unknown Array rs3752141 18 10288 0.00174961 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Arg13936Cys R13936C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10564 0.000378644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC16 Arg13342His R13342H not reviewed Insufficiently evaluated not reviewed unknown Array 96 10164 0.0094451 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Leu13334Met L13334M not reviewed Insufficiently evaluated not reviewed unknown Array 86 10148 0.00847458 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MUC16 Ser7112Pro S7112P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Pro5364Ser P5364S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IL12RB1 Ala525Thr A525T not reviewed Insufficiently evaluated not reviewed unknown Array rs11575935 39 10346 0.00376957 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.784 Y - 1 - 2 N - - MAST3 Thr196Met T196M not reviewed Insufficiently evaluated not reviewed unknown Array rs56022120 101 10428 0.00968546 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - MAST3 Arg1242His R1242H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - C19ORF55 Val166Met V166M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPHS1 Val957Leu V957L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.034 Y - 0 - 1 N - - RASGRP4 Cys658Trp C658W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.93 - - 7 Y 2 N - - SARS2 Pro133Ser P133S not reviewed Insufficiently evaluated not reviewed unknown Array rs60777009 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - SYCN Glu57Lys E57K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - EID2 Gln154Arg Q154R not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - FCGBP Cys799Phe C799F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - BC039061 Lys183Arg K183R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RSPH6A Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - AK094504 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRLF1 Ala1447Thr A1447T not reviewed Insufficiently evaluated not reviewed unknown Array rs61208426 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX34 Thr556Ala T556A not reviewed Insufficiently evaluated not reviewed unknown Array 3 56 0.0535714 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PNKP Ala488Val A488V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ZNF841 Cys101Ser C101S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF548 Lys456Glu K456E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - ADI1 Thr68Ala T68A not reviewed Insufficiently evaluated not reviewed unknown Array rs57884381 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.356 - - 1 - 1 N - - BIRC6 Glu2136Gly E2136G not reviewed Insufficiently evaluated not reviewed unknown Array rs57008494 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - THADA Ser1544Cys S1544C not reviewed Insufficiently evaluated not reviewed unknown Array rs57257569 3 9866 0.000304074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 3 - 1 N - - RTN4 Arg179Gly R179G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - 6 Y 2 N - - RTN4 Ala71Thr A71T not reviewed Insufficiently evaluated not reviewed unknown Array 305 7670 0.0397653 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK096196 Leu121Phe L121F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD36B Gln265Lys Q265K not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD36B Phe263Ser F263S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLASP1 Arg1216His R1216H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10014 9.986e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_002826 Arg336Lys R336K not reviewed Insufficiently evaluated not reviewed unknown Array rs3888995 8 64 0.125 4 0 7 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - R3HDM1 GlnGln631LeuLys QQ631LK not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CXCR2P1 Arg38His R38H not reviewed Insufficiently evaluated not reviewed unknown Array rs114651961 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCL Asp258Del D258Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60424876 2 128 0.015625 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IQCA1 Gln362Arg Q362R not reviewed Insufficiently evaluated not reviewed unknown Array rs3754644 7 7058 0.000991782 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC157891 Ser537Asn S537N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF12 Arg381Gln R381Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 9788 0.000306497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF12 Tyr340Ser Y340S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9806 0.000305935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNTTIP1 Glu8Lys E8K not reviewed Insufficiently evaluated not reviewed unknown Array rs6130935 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - SLC19A1 Trp363Ser W363S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BC112340 Asn459Thr N459T not reviewed Insufficiently evaluated not reviewed unknown Array rs362238 6 6 1 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001013618 Arg65Gly R65G not reviewed Insufficiently evaluated not reviewed unknown Array rs2064142 78 10750 0.00725581 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYO18B Glu559Lys E559K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - AK098727 Val75Met V75M not reviewed Insufficiently evaluated not reviewed unknown Array rs12628846 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP2D7P1 Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2D7P1 Gly79Arg G79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2D7P1 Gln61Arg Q61R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERHL2 Ser46Asn S46N not reviewed Insufficiently evaluated not reviewed unknown Array rs926333 1113 6348 0.175331 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - GTSE1 Gly275Arg G275R not reviewed Insufficiently evaluated not reviewed unknown Array rs58294273 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - ARPP21 Ala408Thr A408T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYRIP Met65Ser M65S not reviewed Insufficiently evaluated not reviewed unknown Array 5 46 0.108696 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - SETD2 Met577Ile M577I not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MST1 Val107Ile V107I not reviewed Insufficiently evaluated not reviewed unknown Array rs2876714 1 22 0.0454545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - DNAH1 Gly2320Ser G2320S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10272 9.7352e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF717 His501Asn H501N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP31 Val1366Met V1366M not reviewed Insufficiently evaluated not reviewed unknown Array rs3796360 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - TRH Gly3Ser G3S not reviewed Insufficiently evaluated not reviewed unknown Array rs13306057 3 10408 0.000288239 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - RYK Ser250Asn S250N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 SerPro3349AsnAla SP3349NA not reviewed Insufficiently evaluated not reviewed unknown Array 3 18 0.166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RNF212 Arg196Gln R196Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF50 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NSUN7 Pro707Leu P707L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.147 - - 7 Y 0 N - - SRP72 Gly7Trp G7W not reviewed Insufficiently evaluated not reviewed unknown Array rs17524437 2 10734 0.000186323 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 7 Y 1 N - - ARHGEF38 Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array rs61413380 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001099776 Pro626Ser P626S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.131 - - 3 - 0 N - - SAP30 Ala47Ser A47S not reviewed Insufficiently evaluated not reviewed unknown Array 3 1578 0.00190114 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - -1 - 0 N - - C7 Thr833Ala T833A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 0 N - - HEATR7B2 Met781Val M781V not reviewed Insufficiently evaluated not reviewed unknown Array rs10067611 315 10112 0.0311511 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HEATR7B2 Gly149Glu G149E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR41 Arg441His R441H not reviewed Insufficiently evaluated not reviewed unknown Array rs41272254 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CMYA5 Asp2382Tyr D2382Y not reviewed Insufficiently evaluated not reviewed unknown Array rs59506448 1 9712 0.000102965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - DCP2 Gly283Asp G283D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 4 Y 1 N - - NM_173800 Ile766Val I766V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C5ORF20 Arg196His R196H not reviewed Insufficiently evaluated not reviewed unknown Array rs59567190 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB11 Arg625Ser R625S not reviewed Insufficiently evaluated not reviewed unknown Array rs799833 894 7400 0.120811 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 1 N - - ARHGEF37 Ala291Thr A291T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10284 9.7238e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - SLC36A2 Leu379Pro L379P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 7 Y 0 N - - EIF4E1B Arg50Gln R50Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM153C Leu54Val L54V not reviewed Insufficiently evaluated not reviewed unknown Array 128 10502 0.0121882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL23A1 Pro191Ser P191S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9512 0.00010513 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - HIST1H1C Lys121Glu K121E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPANK1 Ile48Thr I48T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_021160 Arg460Gln R460Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34796493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNXB Glu3213Lys E3213K not reviewed Insufficiently evaluated not reviewed unknown Array rs2075563 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TNXB Met2863Thr M2863T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - TNXB Pro2301His P2301H not reviewed Insufficiently evaluated not reviewed unknown Array rs2269428 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - TNXB Phe2228Tyr F2228Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3749960 10 6590 0.00151745 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - TNXB Glu1629Lys E1629K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - TNXB Ser613Gly S613G not reviewed Insufficiently evaluated not reviewed unknown Array rs61744970 18 10680 0.00168539 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - NOTCH4 Pro204Leu P204L not reviewed Insufficiently evaluated not reviewed unknown Array rs2071282 1 7518 0.000133014 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - BTNL2 Asp283Val D283V not reviewed Insufficiently evaluated not reviewed unknown Array rs34423804 103 7524 0.0136895 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AX747659 Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ORC3 Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array rs2307389 358 10758 0.0332776 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C6ORF112 Thr71Met T71M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TIAM2 Lys1017Asn K1017N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 2 N - - SUN1 Gly444Val G444V not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - THSD7A Arg873His R873H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9750 0.000102564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - 1 - 2 N - - ADCY1 Arg1029Ser R1029S not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZPBP Arg25Pro R25P not reviewed Insufficiently evaluated not reviewed unknown Array rs61696422 3 120 0.025 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_002789 Ala268Pro A268P not reviewed Insufficiently evaluated not reviewed unknown Array rs17146448 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Thr982Met T982M not reviewed Insufficiently evaluated not reviewed unknown Array rs4729646 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1549 Arg1679Lys R1679K not reviewed Insufficiently evaluated not reviewed unknown Array rs60797311 7 9930 0.000704934 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR6V1 Met96Val M96V not reviewed Insufficiently evaluated not reviewed unknown Array rs60614398 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ACCN3 SerPro307Del SP307Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3217353 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001080826 Asp247Tyr D247Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34019705 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - CSGALNACT1 Leu19Phe L19F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDLIM2 Ala352Val A352V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - NR_003671 Arg6Trp R6W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOT1L1 Ser339Phe S339F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRKDC Pro3835Leu P3835L not reviewed Insufficiently evaluated not reviewed unknown Array rs8178245 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK097150 Arg94Gly R94G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C8ORF34 Pro263Arg P263R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRMT12 Asp195Glu D195E not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - OC90 Ile249Thr I249T not reviewed Insufficiently evaluated not reviewed unknown Array 6 9640 0.000622406 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RGP1 Gly352Ser G352S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR4A3 Thr273Ser T273S not reviewed Insufficiently evaluated not reviewed unknown Array 2 8 0.25 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NR4A3 Pro274Ala P274A not reviewed Insufficiently evaluated not reviewed unknown Array 2 12 0.166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR13C2 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array rs41312234 4 116 0.0344828 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - TRUB2 Val93Leu V93L not reviewed Insufficiently evaluated not reviewed unknown Array rs2072394 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - NM_013318 Leu1112Pro L1112P not reviewed Insufficiently evaluated not reviewed unknown Array 3 9668 0.000310302 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EHMT1 Ser1236Arg S1236R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.27 Y - 3 - 2 N - - BC018860 Arg59Gly R59G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FTHL17 Glu148Leu E148L not reviewed Insufficiently evaluated not reviewed unknown Array rs7058123 4 92 0.0434783 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EFHC2 Glu507Gln E507Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3747354 14 8127 0.00172265 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAGEA3 Ser156Asp S156D not reviewed Insufficiently evaluated not reviewed unknown Array rs34699032 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLOD1 Ile280Thr I280T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.127 Y Y 3 - 2 N - - DEM1 Val265Shift V265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MMACHC Trp203Stop W203X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - C1ORF87 Trp257Stop W257X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GBP2 Tyr462Shift Y462Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GSTM1 Cys78Arg C78R not reviewed Insufficiently evaluated not reviewed unknown Array 2 70 0.0285714 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - FLG Arg1052Gly R1052G not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SLAMF8 Arg65Stop R65X not reviewed Insufficiently evaluated not reviewed unknown Array rs10430458 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ASTN1 Asp787Shift D787Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CFH Gly1110Ala G1110A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 1 - 4 N - - USH2A Pro1843Leu P1843L not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - PTCHD3 Val665Shift V665Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PTCHD3 Trp132Stop W132X not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYT15 Leu118Shift L118Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL17A1 Asp919Asn D919N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - AB290171 Arg2607Stop R2607X not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BBS1 Asn545Ser N545S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TCIRG1 Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.976 Y - 7 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs35312182 11 128 0.0859375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - MLL2 Pro4684Shift P4684Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT6B Lys189Asn K189N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 1 - 4 N - - OR6C75 Phe102Shift F102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITGA7 Arg1109Trp R1109W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - IKZF4 Gln47Stop Q47X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - R3HDM2 Leu586Shift L586Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HELB Gln740Stop Q740X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP7B Ile929Val I929V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.154 Y Y -4 - 2 N - - HEATR5A Ala1181Shift A1181Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRAMD2 Ser194Stop S194X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSC2 Met286Val M286V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800748 5 10724 0.000466243 2 0 2 1 0 - - - - - - - - - - - - Y - - - 0.748 Y Y 0 - 3 N - - PPL Gln1087Shift Q1087Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EXOC3L Ala4Stop A4X not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PMFBP1 Leu960Shift L960Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG7 Lys117Glu K117E not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 4 N - - SPG7 Gly118Shift G118Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ANKFY1 Lys11Shift K11Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC26A11 Met209Shift M209Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTR Leu130Ile L130I not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y -2 - 2 N - - SHC2 Arg502Stop R502X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ICAM3 Arg341Stop R341X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOTCH3 Leu1518Met L1518M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10494 0.00209644 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y -3 - 4 N - - ZNF567 Leu75Shift L75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF577 Arg58Stop R58X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TPO Arg846Trp R846W not reviewed Insufficiently evaluated not reviewed unknown Array rs28913014 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 7 Y 3 N - - ALK Thr1012Met T1012M not reviewed Insufficiently evaluated not reviewed unknown Array rs35073634 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.093 Y Y 2 - 2 N - - XDH Pro1237Arg P1237R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 5 Y 3 N - - MSH2 Gln419Lys Q419K not reviewed Insufficiently evaluated not reviewed unknown Array rs63750006 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - MSH2 Gln629Arg Q629R not reviewed Insufficiently evaluated not reviewed unknown Array rs61756468 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Arg1097Cys R1097C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 8 Y 4 N - - FMNL2 Pro560Shift P560Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72290335 2 70 0.0285714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Arg19121Cys R19121C not reviewed Insufficiently evaluated not reviewed unknown Array rs72646861 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - OSGEPL1 Lys13Shift K13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL4A4 Arg310Gln R310Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 N - - THBD Pro217Ser P217S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 3 - 4 N - - CST9 Arg87Stop R87X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SEMG1 Arg357Stop R357X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL6A2 Ala994Thr A994T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10746 0.00120975 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 1 - 2 N - - ZNF280A Leu461Shift L461Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN5A Ala1428Ser A1428S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - PRSS45 Gln89Shift Q89Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMB2 Arg812Cys R812C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.541 Y - 8 Y 2 N - - BSN Lys2762Shift K2762Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C4ORF50 Leu107Shift L107Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WFS1 Gln14Arg Q14R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10494 9.5292e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PSAPL1 Gln436Stop Q436X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MMAA Lys165Arg K165R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y -3 - 4 N - - FAT1 Ile3726Asn I3726N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 7 Y 2 N - - ALDH7A1 Thr384Ala T384A not reviewed Insufficiently evaluated not reviewed unknown Array rs2306618 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PCDHB2 Leu54Shift L54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK027578 Leu117Shift L117Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPRIN1 Ala598Shift A598Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DSP Tyr494Phe Y494F not reviewed Insufficiently evaluated not reviewed unknown Array rs28763961 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.061 Y Y -4 - 2 N - - TRIM38 Arg164Stop R164X not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HLA-H Ala171Thr A171T not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HLA-H Arg177Gly R177G not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HLA-H Tyr202Stop Y202X not reviewed Insufficiently evaluated not reviewed unknown Array 2 94 0.0212766 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - MICB Arg193Stop R193X not reviewed Insufficiently evaluated not reviewed unknown Array rs3087326 4 9854 0.000405926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FANCE Arg89Leu R89L not reviewed Insufficiently evaluated not reviewed unknown Array rs45600543 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 6 Y 4 N - - MUT Arg154His R154H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PKHD1 Arg559Trp R559W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BAI3 Thr420Shift T420Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC107113 Gln78Stop Q78X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TWIST1 Arg118Ser R118S not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 4 N - - GLI3 His1200Asp H1200D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.949 Y Y 3 - 4 N - - HPVC1 Val111Shift V111Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WBSCR16 Tyr115Shift Y115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNC Val1253Ile V1253I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10544 0.000189681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - BRAF Ala39Thr A39T not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - CLCN1 Tyr261Cys Y261C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - RP1L1 Gly140Shift G140Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SH2D4A Ser230Stop S230X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OSGIN2 Phe539Shift F539Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VPS13B Gln1074Stop Q1074X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - AUH Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ENG Asp366His D366H not reviewed Insufficiently evaluated not reviewed unknown Array rs1800956 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 3 - 4 N - - PNPLA7 Arg626Stop R626X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOC2L GluAsp714AspAsn ED714DN not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC028014 Ala33Thr A33T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLTPD1 Pro101Leu P101L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AK127994 Met224Thr M224T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PER3 Tyr463Cys Y463C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LZIC Gly104Asp G104D not reviewed Insufficiently evaluated not reviewed unknown Array rs2304778 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MASP2 Gln577His Q577H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NPPB Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array rs61761991 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 1 - 2 N - - VPS13D Glu372Lys E372K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - 0 - 1 N - - CROCC Arg927Gln R927Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - CELA3B Arg131Cys R131C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WASF2 Ser256Ala S256A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -1 - 1 N - - ADC Ala288Ser A288S not reviewed Insufficiently evaluated not reviewed unknown Array rs16835244 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -1 - 2 N - - PHC2 Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSMD2 Val2141Met V2141M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - HIVEP3 Arg2363His R2363H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIVEP3 Trp2089Cys W2089C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - HIVEP3 Ser1870Thr S1870T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - HIVEP3 Glu1844Asp E1844D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - HIVEP3 Ala1390Val A1390V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPL Arg321Gln R321Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 0 - 1 N - - SLC6A9 Tyr206Phe Y206F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDCP2 Arg363Cys R363C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 8 Y 2 N - - DAB1 Phe380Leu F380L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - USP1 Glu222Del E222Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL12RB2 Glu780Lys E780K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - SERBP1 Phe185Leu F185L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - C1ORF173 Lys1026Gln K1026Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HFM1 Asn1013His N1013H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCC1 Ser493Leu S493L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - BCL9 Pro297Ala P297A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF56 Ala52Val A52V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLG2 Arg107Gln R107Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2282304 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM189B Pro410Ser P410S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FDPS Lys359Del K359Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASH1L Arg1160Gln R1160Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 0 - 2 N - - GON4L Leu150Phe L150F not reviewed Insufficiently evaluated not reviewed unknown Array rs3738586 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - RXFP4 Met145Val M145V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - 0 - 2 N - - ARHGEF11 Leu747Val L747V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLAMF8 Gly183Arg G183R not reviewed Insufficiently evaluated not reviewed unknown Array rs34249690 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - ATP1A4 Val717Ile V717I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK124464 Pro83Leu P83L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF125 Leu323Phe L323F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM163A Arg108Gly R108G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SMG7 Ile890Lys I890K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GLT25D2 Val420Ile V420I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HMCN1 Gly2939Ser G2939S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.174 Y - 2 - 1 N - - RGS2 Arg44His R44H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - NAV1 Gly1393Ser G1393S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10734 9.3161e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CNTN2 Thr258Asn T258N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.869 - - 1 - 2 N - - FAIM3 Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - CR1 Thr132Pro T132P not reviewed Insufficiently evaluated not reviewed unknown Array rs55906048 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MARK1 Arg620Trp R620W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMEM63A Asn368Ser N368S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.139 - - 0 - 0 N - - OBSCN Pro7062Arg P7062R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.549 - - 5 Y 1 N - - TRIM67 Thr599Ala T599A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 1 - 0 N - - OR2W5 Arg258His R258H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR1C3 Arg258Cys R258C not reviewed Insufficiently evaluated not reviewed unknown Array rs62621365 9 10082 0.00089268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF18 Arg12Cys R12C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF18 Val1206Met V1206M not reviewed Insufficiently evaluated not reviewed unknown Array rs3814196 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH5 Ala552Val A552V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM171A1 Gln277Lys Q277K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - NR_003525 Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARMC4 Arg666Gln R666Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35472668 163 10756 0.0151543 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - CCNY Ala320Thr A320T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - RBP3 Gly787Val G787V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - RHOBTB1 Pro396Ser P396S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - RTKN2 Lys101Thr K101T not reviewed Insufficiently evaluated not reviewed unknown Array rs3765004 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 3 - 0 N - - TACR2 Arg375Cys R375C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZMYND17 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBP4 Val60Phe V60F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.273 - - 3 - 1 N - - SLIT1 Gly607Ser G607S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBTD1 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOT1 Ile74Val I74V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - C10ORF26 Arg5Ser R5S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC157829 Val54Ile V54I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CALHM1 Arg106His R106H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - DUSP5 Pro324Ser P324S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC18A2 Ile149Thr I149T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - NSMCE4A Ile222Leu I222L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - KRTAP5-5 Cys38Arg C38R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C11ORF36 Glu6Ala E6A not reviewed Insufficiently evaluated not reviewed unknown Array rs11026002 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP14 Glu21Lys E21K not reviewed Insufficiently evaluated not reviewed unknown Array rs11041150 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - OR4D9 Tyr123Cys Y123C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - C11ORF9 Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCGB1D1 Ala85Thr A85T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 1 - 0 N - - AHNAK Leu4414Val L4414V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - AHNAK Pro4408Leu P4408L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AHNAK Val843Ile V843I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - -4 - 1 N - - OTUB1 Gln11Arg Q11R not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC88B Arg469Gln R469Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10726 0.000186462 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - CCDC88B Arg1394Gln R1394Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - BC104003 Arg148Gly R148G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TSGA10IP Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7927841 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSGA10IP Met524Ile M524I not reviewed Insufficiently evaluated not reviewed unknown Array 3 9858 0.000304321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC90B Ala218Ser A218S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MMP7 Gly137Asp G137D not reviewed Insufficiently evaluated not reviewed unknown Array rs17884789 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - DDI1 Gly103Ala G103A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 2 N - - CWF19L2 Arg130Trp R130W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FDXACB1 Leu315Met L315M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - -3 - 0 N - - PHLDB1 Arg868His R868H not reviewed Insufficiently evaluated not reviewed unknown Array rs2298484 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 1 - 0 N - - PHLDB1 Val1205Ile V1205I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - TREH Met196Thr M196T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10404 0.00028835 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRAMD1B Gly614Arg G614R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 6 Y 0 N - - TMEM218 Ala65Gly A65G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.375 - - 1 - 1 N - - DDX25 Ser46Phe S46F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - BC031979 Ser107Arg S107R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF4 Val21Ala V21A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GALNT8 Gly54Arg G54R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC2A3 His425Tyr H425Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAS2R19 Thr221Pro T221P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - TSPAN11 Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - C12ORF35 Cys376Tyr C376Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AMIGO2 His210Gln H210Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -1 - 0 N - - SENP1 Pro30Ser P30S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - KRT7 Ala462Thr A462T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10A7 Gly96Ser G96S not reviewed Insufficiently evaluated not reviewed unknown Array rs12578318 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - OR6C74 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array rs4321039 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.141 - - 8 Y 0 N - - OR6C70 Ala114Ser A114S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.422 - - -1 - 1 N - - ANKRD52 Asp735His D735H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STAT6 Val269Ile V269I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - SLC26A10 Gly156Glu G156E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - MON2 Ser19Asn S19N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMTC3 Lys112Arg K112R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLC17A8 Ser301Arg S301R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - SLC17A8 Ala374Ser A374S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.674 - - -1 - 1 N - - BTBD11 Gly123Val G123V not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DAO Arg39His R39H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P2RX7 Asp423Asn D423N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MPHOSPH9 Ser392Gly S392G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SBNO1 Met1059Val M1059V not reviewed Insufficiently evaluated not reviewed unknown Array rs61760910 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Arg2403Trp R2403W not reviewed Insufficiently evaluated not reviewed unknown Array rs7977449 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001083900 Ser2615Leu S2615L not reviewed Insufficiently evaluated not reviewed unknown Array rs61732737 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EP400NL Val289Met V289M not reviewed Insufficiently evaluated not reviewed unknown Array 17 3194 0.00532248 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - ANKLE2 Val354Leu V354L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CHFR Val386Met V386M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTIF3 Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - POLR1D His93Arg H93R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMAD9 Thr248Lys T248K not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - NAA16 Leu210Phe L210F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - CDADC1 Gln483Pro Q483P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NEK5 Glu231Lys E231K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 0 - 1 N - - PIBF1 Arg601Gln R601Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCC4 Glu757Lys E757K not reviewed Insufficiently evaluated not reviewed unknown Array rs3765534 77 10756 0.00715879 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF113B Ser89Arg S89R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 3 - 0 N - - DQ866763 Thr220Met T220M not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DQ866763 Ser211Phe S211F not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR4K15 Val294Asp V294D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.589 - - 8 Y 1 N - - ZNF219 Gly63Arg G63R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 6 Y 2 N - - TOX4 Gly159Ala G159A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - GZMH Pro33Ser P33S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 3 - 2 N - - HEATR5A Thr1263Ala T1263A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FSCB Glu750Lys E750K not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHDC2 Tyr153His Y153H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - MAP4K5 Ile446Val I446V not reviewed Insufficiently evaluated not reviewed unknown Array rs55815015 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0586 Asp1231Gly D1231G not reviewed Insufficiently evaluated not reviewed unknown Array rs3783697 8 10228 0.000782166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MNAT1 Lys84Gln K84Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - TMEM30B Asp348Val D348V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.627 - - 8 Y 1 N - - KCNH5 Ala364Ser A364S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - TTLL5 Val21Phe V21F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ZC3H14 Pro96Ala P96A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - TRIP11 Ile30Met I30M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GOLGA5 Gln593Leu Q593L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SERPINA10 Met410Arg M410R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.332 - - 4 Y 1 N - - BC036882 Glu97Gln E97Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TECPR2 Asp605His D605H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0284 Arg1075Trp R1075W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AHNAK2 Ile2861Leu I2861L not reviewed Insufficiently evaluated not reviewed unknown Array 61 9940 0.00613682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - AHNAK2 Ala2623Thr A2623T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - AHNAK2 Pro2180Ala P2180A not reviewed Insufficiently evaluated not reviewed unknown Array 162 9800 0.0165306 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - AHNAK2 Asp2177His D2177H not reviewed Insufficiently evaluated not reviewed unknown Array 4 9814 0.000407581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - AHNAK2 Val1853Ala V1853A not reviewed Insufficiently evaluated not reviewed unknown Array rs11851005 351 9828 0.0357143 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Leu1020Met L1020M not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - AHNAK2 Lys1018Glu K1018E not reviewed Insufficiently evaluated not reviewed unknown Array 2 9990 0.0002002 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TRPM1 Ala1349Thr A1349T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATPBD4 Pro236Arg P236R not reviewed Insufficiently evaluated not reviewed unknown Array rs10519996 19 10756 0.00176646 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EIF2AK4 Asp888His D888H not reviewed Insufficiently evaluated not reviewed unknown Array rs17848491 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MGA Gly320Asp G320D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DUOX1 Tyr307His Y307H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SLC27A2 Ile392Leu I392L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LEO1 Arg275Gly R275G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 6 Y 2 N - - RFX7 Val774Leu V774L not reviewed Insufficiently evaluated not reviewed unknown Array rs3803460 28 9632 0.00290698 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXL22 Pro183Ser P183S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MEGF11 Ile988Thr I988T not reviewed Insufficiently evaluated not reviewed unknown Array rs2303374 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZWILCH Pro68Ser P68S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 1 N - - NR2E3 Glu121Lys E121K not reviewed Insufficiently evaluated not reviewed unknown Array 2 9924 0.000201531 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PML Val345Met V345M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - LMAN1L Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - CHRNA5 Ile200Val I200V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - -4 - 0 N - - STARD5 Val120Ala V120A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.136 - - 2 - 0 N - - TRAF7 Leu291His L291H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - ZSCAN10 Ser619Gly S619G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - HSP90B2P Thr595Ala T595A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CIITA Ala691Asp A691D not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 5 Y 0 N - - SMG1 Pro3627Leu P3627L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITPRIPL2 Glu435Asp E435D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - GPRC5B Leu183Ile L183I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.888 - - -2 - 2 N - - TNRC6A ProGlnProGln115Del PQPQ115Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60829899 1 18 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - NSMCE1 Ser62Arg S62R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10378 9.6357e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - IL27 Arg128Leu R128L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - NUPR1 Gly38Arg G38R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SULT1A1 Val270Gly V270G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - SRCAP Pro2951Ala P2951A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLRC5 Met364Ile M364I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - HYDIN His808Tyr H808Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - ZNF19 Cys163Tyr C163Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KARS Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - ATMIN Val521Ile V521I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -4 - 1 N - - CDH13 Ile286Val I286V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.591 - - -4 - 1 N - - OSGIN1 Gly307Ser G307S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ZCCHC14 Pro252Leu P252L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF469 Ala491Thr A491T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPEP1 Ala238Pro A238P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - WDR81 Pro234Arg P234R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 5 Y 0 N - - DPH1 Val370Leu V370L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - 0 - 1 N - - OR1G1 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736114 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.541 - - 3 - 1 N - - AK310981 Gly104Arg G104R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XAF1 His181Arg H181R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - PLSCR3 AlaPro46ValPhe AP46VF not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM102 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array rs3809718 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF18 Gln369Del Q369Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDRT15 Arg44His R44H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 1 - 2 N - - COPS3 Thr135Ile T135I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - WSB1 Val384Leu V384L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 1 N - - EFCAB5 Val1376Met V1376M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC55 Arg440Gln R440Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RAB11FIP4 Phe133Leu F133L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SLFN13 Val299Ala V299A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - NEUROD2 Gly77Ser G77S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - KRT12 Gly54Arg G54R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRT40 Val213Leu V213L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - KRT35 Arg375Gln R375Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TTC25 Phe562Thr F562T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KAT2A Ser760Leu S760L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10566 0.000378572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - 6 Y 1 N - - DCAKD Arg105Trp R105W not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - TBX21 Thr293Ala T293A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - UTP18 Thr313Met T313M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 2 - 2 N - - MRPS23 Ser184Pro S184P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 3 - 0 N - - PPM1D Pro88Ser P88S not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - DNAI2 Asp554Asn D554N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - CD300LF Leu254Ser L254S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FDXR Arg7Leu R7L not reviewed Insufficiently evaluated not reviewed unknown Array rs28365947 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 6 Y 1 N - - MRPS7 Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35418346 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC7 Val199Ile V199I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UBE2O Ser1220Leu S1220L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CANT1 Val186Ile V186I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.083 - - -4 - 0 N - - ENGASE Arg114His R114H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.787 - - 1 - 1 N - - KIAA0802 Gly1467Ser G1467S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD12 Glu1620Gly E1620G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - GALNT1 Leu20Val L20V not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETBP1 Glu1412Asp E1412D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TCEB3B Asn115Thr N115T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10740 0.000372439 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - POLI Val117Ile V117I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF54 Pro413Leu P413L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINB7 Ile219Thr I219T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - 3 - 2 N - - CCDC102B Arg371Thr R371T not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR749350 Asn219Ser N219S not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR618658 Arg179His R179H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752101 4 94 0.0425532 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - CR618658 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array rs3764507 4 120 0.0333333 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA7 Pro143Ser P143S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP8B3 Ala213Thr A213T not reviewed Insufficiently evaluated not reviewed unknown Array rs45574836 349 10078 0.0346299 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BC022568 Gly75Glu G75E not reviewed Insufficiently evaluated not reviewed unknown Array rs7247035 6 88 0.0681818 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PLIN4 LeuGly851ValCys LG851VC not reviewed Insufficiently evaluated not reviewed unknown Array rs67542711 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLIN4 Asn849Asp N849D not reviewed Insufficiently evaluated not reviewed unknown Array rs28523592 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DPP9 Glu391Gln E391Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TICAM1 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.588 - - 3 - 1 N - - ARRDC5 Tyr88His Y88H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF45 Pro207Arg P207R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCER2 Ser265Cys S265C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.811 - - 3 - 1 N - - MUC16 Thr9889Asn T9889N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Thr2833Asn T2833N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF846 Arg461His R461H not reviewed Insufficiently evaluated not reviewed unknown Array rs56872664 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - PPAN-P2RY11 Tyr508Asn Y508N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - QTRT1 Leu117Val L117V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 2 N - - EPHX3 Asn267Lys N267K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NR2F6 Arg340Gln R340Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - UNC13A Ser246Leu S246L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP33 Gly799Ala G799A not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSMD8 Glu276Asp E276D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADCK4 Ser246Asn S246N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - CD79A Gly101Arg G101R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PVR Glu226Lys E226K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - BC014430 Gly100Arg G100R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CGB Asp137Ala D137A not reviewed Insufficiently evaluated not reviewed unknown Array rs16981044 4 10258 0.000389939 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PNKP Thr407Pro T407P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - VRK3 Ser235Leu S235L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ZNF600 Arg508His R508H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.599 - - 1 - 1 N - - ZNF468 Glu415Lys E415K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - ZNF347 Arg588Gln R588Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.506 - - 0 - 1 N - - ZNF761 Gly194Cys G194C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VSTM1 Glu40Ala E40A not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 3 - 2 N - - HS1BP3 Glu233Lys E233K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - C2ORF39 Gln716Pro Q716P not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TCF23 Ala126Val A126V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - PLB1 Arg952Gln R952Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PLB1 Arg1111Gln R1111Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - LTBP1 Val308Leu V308L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTBN1 Lys1120Asn K1120N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 1 - 2 N - - AUP1 LeuLeu24ArgVal LL24RV not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRPL35 Tyr129Cys Y129C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - THNSL2 Arg324Met R324M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - C2ORF29 Ala309Thr A309T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLR1B Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CNTNAP5 Asn27Thr N27T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10020 9.98e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - ARHGEF4 Met224Ile M224I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNFAIP6 Met225Ile M225I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - FMNL2 Pro570Leu P570L not reviewed Insufficiently evaluated not reviewed unknown Array 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - KCNJ3 Gln44Pro Q44P not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - CYTIP Arg350His R350H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - MARCH7 Thr193Ile T193I not reviewed Insufficiently evaluated not reviewed unknown Array rs16844275 235 10758 0.0218442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - ITGB6 Gly593Arg G593R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LRP2 Ser272Pro S272P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - FASTKD1 Ser410Ile S410I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - MTX2 Val118Ile V118I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 1 N - - TTC30B His600Tyr H600Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - PDE11A Glu845Val E845V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - ZSWIM2 Gln446Pro Q446P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TUBA4B Arg219Thr R219T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731892 13 128 0.101562 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 0 N - - ACCN4 His80Arg H80R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM124B His58Tyr H58Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - -1 - 2 N - - C2ORF82 Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM8 Pro767Arg P767R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 1 N - - HES6 Arg218Gln R218Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3739061 8 10606 0.00075429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GAL3ST2 Arg220Cys R220C not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RBCK1 Arg446His R446H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANGPT4 Thr110Met T110M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FASTKD5 Ile377Val I377V not reviewed Insufficiently evaluated not reviewed unknown Array rs3746699 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BFSP1 Asn383Ser N383S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CRNKL1 Arg696Gln R696Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - ITCH Thr129Ala T129A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM83C Arg661His R661H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 1 - 1 N - - TGM2 Glu469Gly E469G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - KCNK15 Ala87Thr A87T not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - PREX1 Ala781Thr A781T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AURKA Val84Ala V84A not reviewed Insufficiently evaluated not reviewed unknown Array rs45533839 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF151 Val176Met V176M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001037335 Val1486Ile V1486I not reviewed Insufficiently evaluated not reviewed unknown Array rs61739518 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.344 - - -4 - 1 N - - RTEL1 Val178Ala V178A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPBWR2 Thr216Met T216M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 1 N - - MYT1 Val137Ile V137I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POTED Arg477Gln R477Q not reviewed Insufficiently evaluated not reviewed unknown Array 182 6330 0.028752 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CLDN8 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 1 - 0 N - - KRTAP13-2 Arg20His R20H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - KRTAP6-3 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C21ORF63 Tyr72Asn Y72N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IGSF5 Met141Thr M141T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - DSCAM Val275Met V275M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9812 0.000101916 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 0 - 0 N - - RIPK4 Ala645Thr A645T not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAPPC10 Arg915Cys R915C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 - Y 8 Y 1 N - - C21ORF2 Arg247His R247H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10680 9.3632e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP10-1 Cys252Arg C252R not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TFIP11 Glu483Gly E483G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - RHBDD3 Gly171Ser G171S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 2 - 2 N - - CCDC157 Arg687Gln R687Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL6 Met79Val M79V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - APOL4 Arg258Cys R258C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10248 0.00058548 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIOBP Ala322Ser A322S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SUN2 Leu329Met L329M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -3 - 0 N - - TCF20 Pro481Ser P481S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SERHL2 Ile224Val I224V not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PACSIN2 Glu441Lys E441K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - AK056490 Ala45Gly A45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB6 Pro1154Leu P1154L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - PNPLA3 Ala444Thr A444T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 1 N - - NM_001008737 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9724 0.000102838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OXSM Pro156Arg P156R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - TRANK1 Val601Leu V601L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UQCRC1 Asp215His D215H not reviewed Insufficiently evaluated not reviewed unknown Array rs17080284 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - APEH Gln572His Q572H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - GRM2 Ala497Thr A497T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH1 Arg971His R971H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH1 Gln3425His Q3425H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH12 Trp450Cys W450C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRICKLE2 Gly152Ser G152S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 0 N - - FAM86DP Phe71Ile F71I not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF717 Gly335Glu G335E not reviewed Insufficiently evaluated not reviewed unknown Array rs2209201 5 100 0.05 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT122 Ser368Asn S368N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 1 Y - - - - - - - - - - - - - - - - - 0 - 1 N - - RARRES1 Gln87Glu Q87E not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - -2 - 2 N - - OTOL1 Arg339Ser R339S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.215 - - 3 - 1 N - - GOLIM4 Glu311Lys E311K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - LIPH His248Asn H248N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - BX648496 Arg42Gln R42Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC073879 Leu47Ser L47S not reviewed Insufficiently evaluated not reviewed unknown Array 1 16 0.0625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC4 Glu4388Lys E4388K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZDHHC19 Gly307Arg G307R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10126 0.00128382 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZDHHC19 Thr305Ser T305S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10084 0.00128917 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MFI2 Arg294Trp R294W not reviewed Insufficiently evaluated not reviewed unknown Array rs2276790 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - DGKQ Ala690Val A690V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADD1 Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array rs2295497 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 8 Y 1 N - - RGS12 Gln1320Glu Q1320E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - EVC Glu681Lys E681K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.97 Y - 0 - 3 N - - BOD1L Val1841Ile V1841I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -4 - 0 N - - DQ585121 His132Leu H132L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARAP2 Asp1340Asn D1340N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - BC157885 Arg704Ser R704S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLR1 Gly522Arg G522R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - UTP3 Glu81Del E81Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RAP1GDS1 Asp29Tyr D29Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTTP Arg584His R584H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TBCK Arg467His R467H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DKK2 His138Tyr H138Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - PDE5A Ser181Ala S181A not reviewed Insufficiently evaluated not reviewed unknown Array rs17051276 244 10758 0.0226808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAT4 Met4369Val M4369V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LRBA Glu1022Lys E1022K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PET112L Arg314Cys R314C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DCHS2 Glu378Ser E378S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCHS2 Phe377Leu F377L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - FGA Met495Val M495V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 1 N - - ENPP6 Ser291Cys S291C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - CCDC110 LeuSer774Del LS774Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPEF2 Arg1113Gln R1113Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - IL7R Thr414Met T414M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229232 45 10758 0.00418293 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C5ORF42 Asn1028Ser N1028S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7 Lys420Gln K420Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3792646 3 9608 0.000312239 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.918 - - -2 - 2 N - - MOCS2 Lys180Glu K180E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.046 Y - 0 - 1 N - - HTR1A Ser182Leu S182L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 6 Y 2 N - - MRPS27 Leu209Phe L209F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - F2RL2 Asn327Ile N327I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - F2RL2 Ile195Val I195V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - NR_004845 Met113Arg M113R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFYVE16 Gly568Ser G568S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - SLCO4C1 Leu113His L113H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 6 Y 2 N - - DMXL1 Ala558Gly A558G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - DMXL1 Thr2298Ser T2298S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC27A6 Arg341Trp R341W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PCDHB10 Asn181Lys N181K not reviewed Insufficiently evaluated not reviewed unknown Array rs597064 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRXCR2 Lys22Arg K22R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - -3 - 1 N - - SPINK9 Ala5Gly A5G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIGD6 Val268Met V268M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.438 - - 0 - 1 N - - KIF4B Arg652His R652H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - STK10 Pro394Ala P394A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HK3 Arg364Cys R364C not reviewed Insufficiently evaluated not reviewed unknown Array rs2304514 5 10478 0.00047719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 8 Y 2 N - - F12 Ala343Pro A343P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.121 Y - 2 - 1 N - - GRM6 Arg391Gln R391Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 0 - 3 N - - ADAMTS2 Gly1169Val G1169V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 8 Y 0 N - - BC130444 Pro142Ser P142S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TRIM7 Arg450Trp R450W not reviewed Insufficiently evaluated not reviewed unknown Array rs61751566 37 10516 0.00351845 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IRF4 Arg51Leu R51L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - DQ577059 Pro264Leu P264L not reviewed Insufficiently evaluated not reviewed unknown Array rs73719394 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDKAL1 Tyr148Cys Y148C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - GPLD1 Asn271Ser N271S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - LRRC16A Val77Ile V77I not reviewed Insufficiently evaluated not reviewed unknown Array rs9358856 1200 9904 0.121163 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - TRIM38 Ile165Thr I165T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - HIST1H4B Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HIST1H2BI Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR14J1 Arg291Trp R291W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LTB Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array rs2229699 2 7510 0.000266311 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - HLA-DRB5 Tyr89Ser Y89S not reviewed Insufficiently evaluated not reviewed unknown Array rs41541218 1274 10552 0.120735 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - HLA-DRB5 Asp86Val D86V not reviewed Insufficiently evaluated not reviewed unknown Array rs41553717 1369 10550 0.129763 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - HLA-DPA1 Thr221Ala T221A not reviewed Insufficiently evaluated not reviewed unknown Array rs17509489 5 7518 0.00066507 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 1 - 0 N - - HLA-DPA1 Pro127Ala P127A not reviewed Insufficiently evaluated not reviewed unknown Array rs41562016 25 7514 0.00332712 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - HLA-DPA1 ThrLeu103IleAla TL103IA not reviewed Insufficiently evaluated not reviewed unknown Array rs41550817 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HLA-DPA1 Pro49Thr P49T not reviewed Insufficiently evaluated not reviewed unknown Array rs2308907 25 7518 0.00332535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 4 Y 0 N - - HLA-DPB1 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array rs41558014 26 7516 0.00345929 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSD17B8 Ala12Ser A12S not reviewed Insufficiently evaluated not reviewed unknown Array 3 7512 0.000399361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -1 - 0 N - - RGL2 Asn210Ser N210S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.556 - - 0 - 1 N - - KCTD20 His91Gln H91Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - -1 - 1 N - - KCNK17 Ile316Lys I316K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - GNMT Phe261Leu F261L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MEA1 Ala183Asp A183D not reviewed Insufficiently evaluated not reviewed unknown Array rs11751058 436 10758 0.040528 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.277 - - 5 Y 1 N - - PTK7 Pro698Arg P698R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 5 Y 2 N - - ENPP4 Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array rs9381429 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - C6ORF142 Pro448Arg P448R not reviewed Insufficiently evaluated not reviewed unknown Array rs9382294 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DST Ser5425Asn S5425N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHF3 His1834Tyr H1834Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3734881 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - COL19A1 Gly717Asp G717D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - IMPG1 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - MDN1 Thr2281Ile T2281I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - 3 - 1 N - - CASP8AP2 Arg972His R972H not reviewed Insufficiently evaluated not reviewed unknown Array 5 9670 0.000517063 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - GJA9 Cys511Phe C511F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0776 Val137Phe V137F not reviewed Insufficiently evaluated not reviewed unknown Array rs28372909 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 3 - 1 N - - AMD1 Ala25Val A25V not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 2 - 0 N - - VGLL2 Pro156Gln P156Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VNN3 PheThr57SerPro FT57SP not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PERP Asn183Ile N183I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.22 - - 7 Y 1 N - - BC122560 Gly199Asp G199D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXO30 Ser382Cys S382C not reviewed Insufficiently evaluated not reviewed unknown Array rs17075385 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - SHPRH Asp159Ala D159A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9524 0.000314993 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - IGF2R Asn2348Ser N2348S not reviewed Insufficiently evaluated not reviewed unknown Array rs17847665 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FAM120B Lys565Glu K565E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - FBXL18 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RNF216 Val249Phe V249F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KDELR2 Arg94Gln R94Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.653 - - 0 - 1 N - - THSD7A His506Arg H506R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - AX748054 Thr9Asn T9N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DQ579940 Pro94Leu P94L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NOD1 Met364Leu M364L not reviewed Insufficiently evaluated not reviewed unknown Array rs55808235 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.845 - - -3 - 1 N - - PKD1L1 Val1283Leu V1283L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - ABCA13 Ala1459Val A1459V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF679 His120Arg H120R not reviewed Insufficiently evaluated not reviewed unknown Array rs17139320 85 3234 0.0262832 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.77 - - 1 - 1 N - - STAG3L3 Arg80Cys R80C not reviewed Insufficiently evaluated not reviewed unknown Array rs62476562 96 2210 0.0434389 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIM50 Arg257Trp R257W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - LAT2 Arg30His R30H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SEMA3C Val337Met V337M not reviewed Insufficiently evaluated not reviewed unknown Array rs1527482 52 10758 0.00483361 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - CACNA2D1 Gly919Cys G919C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KPNA7 Leu203Phe L203F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.815 - - 0 - 1 N - - ARPC1A Thr21Ile T21I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - ZAN Pro756Leu P756L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC3A Ser360Gly S360G not reviewed Insufficiently evaluated not reviewed unknown Array 110 4586 0.023986 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FSCN3 Thr240Met T240M not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.159 - - 2 - 0 N - - NUP205 Leu1144Val L1144V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SVOPL Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC61 Arg26Cys R26C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ASB10 Arg415Cys R415C not reviewed Insufficiently evaluated not reviewed unknown Array rs3800791 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C8ORF79 Ile265Thr I265T not reviewed Insufficiently evaluated not reviewed unknown Array rs3739308 38 9616 0.00395175 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C8ORF58 Arg311Trp R311W not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - R3HCC1 Ser188Leu S188L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOT1L1 Asp188His D188H not reviewed Insufficiently evaluated not reviewed unknown Array rs2276004 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRKDC Val3372Met V3372M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRKDC Thr3197Ser T3197S not reviewed Insufficiently evaluated not reviewed unknown Array rs55793951 1 9692 0.000103177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRKDC Gly2112Del G2112Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PXDNL Arg477His R477H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - C8ORF44 Pro14Ala P14A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FABP9 Phe71Leu F71L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - BAALC Arg112Lys R112K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PKHD1L1 Asn436Lys N436K not reviewed Insufficiently evaluated not reviewed unknown Array 2 9500 0.000210526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - TRIB1 Ala192Thr A192T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 1 - 0 N - - FAM84B Val85Met V85M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - LRRC6 Ile448Thr I448T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAPRT1 Asp203Asn D203N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF623 His521Arg H521R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - EPPK1 Leu2132Phe L2132F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIFC2 Pro185Leu P185L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - DOCK8 Ala700Val A700V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSIP1 Pro248Leu P248L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - KIAA1797 Gln867Arg Q867R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - UBAP1 Asn357Lys N357K not reviewed Insufficiently evaluated not reviewed unknown Array rs16935457 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - KIF24 Asp50Glu D50E not reviewed Insufficiently evaluated not reviewed unknown Array rs16935508 10 9686 0.00103242 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - KIAA1161 Leu619Phe L619F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARID3C Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL11RA Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - C9ORF131 Pro916Ser P916S not reviewed Insufficiently evaluated not reviewed unknown Array rs3739871 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM2 Ser10Tyr S10Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 5 Y 0 N - - TRPM6 Met1162Ile M1162I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.777 Y - -1 - 2 N - - NOL8 Ile369Asp I369D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF782 Thr471Ile T471I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - ANKS6 Pro865Ser P865S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9976 0.00010024 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SVEP1 Asp2022Glu D2022E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - -2 - 2 N - - KIAA0368 Leu1017Gln L1017Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR1K1 Glu268Lys E268K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CRB2 Gly429Arg G429R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - FAM129B Gly670Ser G670S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751870 3 9896 0.000303152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM129B Ala285Val A285V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM129B His277Arg H277R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742100 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF117 Pro496Ser P496S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9808 0.000305872 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP2R4 Lys28Arg K28R not reviewed Insufficiently evaluated not reviewed unknown Array rs17481693 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.166 - - -3 - 0 N - - LHX3 Ala327Thr A327T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CLIC3 Pro235Ser P235S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10674 0.000374742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - ABCA2 Asp603Asn D603N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF173 Met51Thr M51T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MXRA5 His2050Gln H2050Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - EGFL6 Gly213Glu G213E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.675 - - 6 Y 1 N - - APOO Tyr74His Y74H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.821 - - -1 - 1 N - - RBM10 Lys670Arg K670R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DACH2 Ser357Cys S357C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.918 - - 3 - 2 N - - SPANXA1 Asp32Tyr D32Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61173133 1 83 0.0120482 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPANXA1 ProThr29SerSer PT29SS not reviewed Insufficiently evaluated not reviewed unknown Array 1 75 0.0133333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IL9R Arg142Gly R142G not reviewed Insufficiently evaluated not reviewed unknown Array 1 93 0.0107527 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 6 Y 2 N - - KDM5D Gln1538His Q1538H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SAMD11 Gly500Shift G500Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLOD1 Tyr344Cys Y344C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 6 Y 4 N - - SPATA21 Arg467Stop R467X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TMCO4 Arg259Stop R259X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HSPG2 Gly2800Asp G2800D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - NOTCH2 Ile681Asn I681N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 7 Y 2 N - - FLG Gly3522Ser G3522S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 2 - 4 N - - FLG Gln1415Lys Q1415K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLG His1413Gln H1413Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FMO3 Arg205Cys R205C not reviewed Insufficiently evaluated not reviewed unknown Array rs28363549 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.073 Y Y 8 Y 2 N - - HMCN1 Gly1963Val G1963V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 8 Y 1 N - - HMCN1 Pro3808Leu P3808L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ASPM Ala1125Thr A1125T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CACNA1S Val878Met V878M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ACTN2 Asp475Asn D475N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y -1 - 2 N - - FH Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.413 Y Y 0 - 3 N - - OR2T12 Phe249Shift F249Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM35A Leu404Shift L404Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL17A1 Ser1029Ala S1029A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - C10ORF79 Asp845Shift D845Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGFR2 Arg6Pro R6P not reviewed Insufficiently evaluated not reviewed unknown Array rs3750819 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 5 Y 2 N - - MYBPC3 Arg835Leu R835L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FAM180B Gln48Shift Q48Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MTMR2 Ala602Gly A602G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MGST1 Asn58Shift N58Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs4149213 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRAS Ile171Shift I171Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - RILPL2 Gln143Stop Q143X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BRCA2 Met784Val M784V not reviewed Insufficiently evaluated not reviewed unknown Array rs11571653 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MYH7 Glu1902Gln E1902Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y -2 - 2 N - - SNRPN Leu127Stop L127X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - MEFV Leu110Pro L110P not reviewed Insufficiently evaluated not reviewed unknown Array rs11466018 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.064 Y Y 7 Y 2 N - - ABCC6 Ser66Shift S66Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71390964 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CETP Asp459Gly D459G not reviewed Insufficiently evaluated not reviewed unknown Array rs2303790 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.614 Y - 4 Y 2 N - - FOXC2 Ser191Phe S191F not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y 5 Y 2 N - - OR1D4 Arg190Stop R190X not reviewed Insufficiently evaluated not reviewed unknown Array rs2317673 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC6A4 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array rs56316081 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -4 - 2 N - - WNK4 Tyr352Ser Y352S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 5 Y 3 N - - NPC1 Val624Ile V624I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - LAMA3 Gly2889Arg G2889R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SMAD4 Gly252Arg G252R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 Y Y 6 Y 2 N - - AK126293 Gly111Shift G111Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3841258 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - STK11 Thr185Ile T185I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - DOT1L Asp1258Shift D1258Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - INSR Gly1048Asp G1048D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 4 Y 3 N - - ZNF737 Thr301Shift T301Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF100 Ser330Stop S330X not reviewed Insufficiently evaluated not reviewed unknown Array 89 10738 0.00828832 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GP6 Pro404Shift P404Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PEG3 Arg107Stop R107X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SNX17 Thr449Shift T449Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CD207 Arg24Stop R24X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10480 0.000286259 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RETSAT Arg482Stop R482X not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C2ORF64 Cys30Shift C30Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPHP1 Pro565Thr P565T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - RBM43 Asp177Shift D177Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DYNC1I2 Arg616Stop R616X not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Ser32494Cys S32494C not reviewed Insufficiently evaluated not reviewed unknown Array rs3813249 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile28154Val I28154V not reviewed Insufficiently evaluated not reviewed unknown Array rs16866391 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Thr22088Met T22088M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Arg20761Gln R20761Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile14301Thr I14301T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Met12959Lys M12959K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SPEG Glu1752Shift E1752Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PROKR2 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SALL4 Ile1050Thr I1050T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.96 Y Y 3 - 4 N - - DCLK3 Met536Shift M536Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHRD Gln123Shift Q123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OPA1 Gln15Lys Q15K not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - HTT Gly551Glu G551E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10314 0.000193911 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.588 Y Y 6 Y 3 N - - PACRGL Arg75Stop R75X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CFI Arg406His R406H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.033 Y Y 1 - 2 N - - ANK2 Pro2796Leu P2796L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - GPR98 Ala602Thr A602T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 1 - 4 N - - FBN2 Thr2278Met T2278M not reviewed Insufficiently evaluated not reviewed unknown Array rs2307109 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SIL1 Lys288Del K288Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SIL1 Arg159Trp R159W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.914 Y Y 7 Y 4 N - - DSP Arg2639Gln R2639Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.982 Y Y 0 - 4 N - - DQ577059 Val492Shift V492Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR2U1P Trp9Stop W9X not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - HLA-DQB1 Ser229Asn S229N not reviewed Insufficiently evaluated not reviewed unknown Array rs1130429 12 9794 0.00122524 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - HLA-DQB1 ValAla15AlaPro VA15AP not reviewed Insufficiently evaluated not reviewed unknown Array 3 50 0.06 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - BCLAF1 Arg298Stop R298X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYNE1 Gly8737Ser G8737S not reviewed Insufficiently evaluated not reviewed unknown Array rs2295191 11 10758 0.00102249 3 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SYNE1 Lys3039Asn K3039N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.305 Y Y 1 - 3 N - - SYNE1 Gly2297Arg G2297R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 6 Y 2 N - - PARK2 Arg366Trp R366W not reviewed Insufficiently evaluated not reviewed unknown Array rs56092260 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.107 Y Y 7 Y 2 N - - CCL26 Ala61Shift A61Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNC Thr834Met T834M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10488 0.00095347 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - GALNTL5 Leu255Shift L255Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GOT1L1 Tyr362Shift Y362Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TERF1 Tyr124Shift Y124Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HNF4G Gly418Shift G418Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CA1 Trp17Stop W17X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TG Arg2585Trp R2585W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - KIF27 Arg1360Stop R1360X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10712 9.3353e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL5A1 Thr1757Met T1757M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229817 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ATP7A Ile1464Val I1464V not reviewed Insufficiently evaluated not reviewed unknown Array rs2234938 1 8756 0.000114207 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - AK307233 Glu15Shift E15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USP9Y Arg211Cys R211C not reviewed Insufficiently evaluated not reviewed unknown Array rs2032596 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - BC028014 Val6Ile V6I not reviewed Insufficiently evaluated not reviewed unknown Array rs12022640 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AURKAIP1 Gln107His Q107H not reviewed Insufficiently evaluated not reviewed unknown Array rs3736374 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.916 - - -1 - 2 N - - NM_001127577 Ile68Ser I68S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAS1R1 Thr374Met T374M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - CAMTA1 Pro1188Ser P1188S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743209 6 10758 0.000557724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PIK3CD Thr456Ala T456A not reviewed Insufficiently evaluated not reviewed unknown Array rs28730674 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLSTN1 Phe70Tyr F70Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FHAD1 Arg1160Gln R1160Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CROCC Thr1114Met T1114M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 2 - 0 N - - PADI1 Arg429Gln R429Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KIAA0090 Leu295Ser L295S not reviewed Insufficiently evaluated not reviewed unknown Array rs3850531 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 6 Y 1 N - - HP1BP3 Gly8Asp G8D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 4 Y 0 N - - HSPG2 Thr2322Met T2322M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SESN2 Pro87Ser P87S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TAF12 Asn55His N55H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - PTPRU Pro934Ser P934S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERINC2 Gly77Arg G77R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CSMD2 Val2695Met V2695M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - MAP7D1 Arg104Trp R104W not reviewed Insufficiently evaluated not reviewed unknown Array rs2296266 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MAP7D1 Ser457Phe S457F not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - NASP Val11Leu V11L not reviewed Insufficiently evaluated not reviewed unknown Array rs28365868 15 10742 0.00139639 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF223 Ser204Thr S204T not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EPS15 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CC2D1B Arg432Gln R432Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.202 - - 0 - 1 N - - FAM151A Ala254Ser A254S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - ROR1 Met64Val M64V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.395 - - 0 - 1 N - - TNNI3K His207Asp H207D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ST6GALNAC3 Gly120Ser G120S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - GBP5 Thr35Met T35M not reviewed Insufficiently evaluated not reviewed unknown Array rs3806339 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.463 - - 2 - 1 N - - ABCA4 His1865Tyr H1865Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - -1 - 1 N - - AX747691 Arg139Thr R139T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STXBP3 Arg295Gln R295Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2275344 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHOC Gly50Ser G50S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GDAP2 Pro235Leu P235L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - SPAG17 Val2009Met V2009M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.18 - - 0 - 0 N - - ITGA10 Arg445His R445H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - ANKRD35 Pro293Leu P293L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - AX747534 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRUNE Gly397Arg G397R not reviewed Insufficiently evaluated not reviewed unknown Array rs3738477 8 128 0.0625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ZBTB7B Ser262Pro S262P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - 3 - 1 N - - EFNA1 Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ATP1A4 Lys611Arg K611R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.083 - - -3 - 0 N - - PVRL4 LeuLeu20ProAla LL20PA not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR3A Arg24Trp R24W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DUSP27 Gln367Pro Q367P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - METTL13 Glu244Lys E244K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - GPR52 Thr297Ala T297A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF125 Gln223His Q223H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CEP350 Leu664Phe L664F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - NCF2 Thr279Met T279M not reviewed Insufficiently evaluated not reviewed unknown Array rs13306581 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 2 - 3 N - - C1ORF106 Arg501Ser R501S not reviewed Insufficiently evaluated not reviewed unknown Array rs45547233 901 10744 0.0838608 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LGR6 Ala607Thr A607T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 1 - 1 N - - PPFIA4 Thr723Ile T723I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FMOD Asp22Asn D22N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRELP Pro10Leu P10L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - CDK18 Gly466Glu G466E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PM20D1 His84Arg H84R not reviewed Insufficiently evaluated not reviewed unknown Array rs11540015 709 10706 0.0662245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - CR2 Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNA2 Gly299Ser G299S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPATCH2 Lys376Arg K376R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - RAB3GAP2 Glu1323Del E1323Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HHIPL2 Gly276Arg G276R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 6 Y 2 N - - NVL Val295Ile V295I not reviewed Insufficiently evaluated not reviewed unknown Array rs12084919 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - -4 - 0 N - - OBSCN Ala2893Val A2893V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10420 0.000287907 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - 2 - 1 N - - OBSCN Leu6204Pro L6204P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 7 Y 0 N - - URB2 Ser492Leu S492L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RBM34 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRP3 Val72Met V72M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ADARB2 Gly91Ser G91S not reviewed Insufficiently evaluated not reviewed unknown Array rs3750673 1 9702 0.000103071 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM188A Thr226Met T226M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ENKUR Cys5Phe C5F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 4 Y 2 N - - GDF2 Ile118Phe I118F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDFY4 Cys582Trp C582W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANK3 Leu2710Phe L2710F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANK3 Glu2396Del E2396Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIPM Trp18Arg W18R not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - FRA10AC1 Asp83Asn D83N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - -1 - 1 N - - SLIT1 Arg1460Trp R1460W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - GBF1 Met240Thr M240T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CALHM1 Arg314Leu R314L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DMBT1 Met1169Thr M1169T not reviewed Insufficiently evaluated not reviewed unknown Array rs3758437 6 58 0.103448 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 1 N - - ACADSB His31Arg H31R not reviewed Insufficiently evaluated not reviewed unknown Array rs57321698 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 1 N - - CPXM2 Glu497Lys E497K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - C10ORF90 Asp558Glu D558E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRE Thr150Ser T150S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STK32C Glu467Lys E467K not reviewed Insufficiently evaluated not reviewed unknown Array rs55812591 224 10728 0.0208799 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - GPR123 Ala462Asp A462D not reviewed Insufficiently evaluated not reviewed unknown Array 2 7808 0.000256147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PKP3 Thr235Ser T235S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9860 0.000202839 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RASSF7 Arg181Trp R181W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - MUC2 SerPro1407IleThr SP1407IT not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC2 Thr1411Ala T1411A not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC5AC Thr2731Ile T2731I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Ser4428Arg S4428R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10338 9.673e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Thr4846Del T4846Del not reviewed Insufficiently evaluated not reviewed unknown Array rs61430934 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR51B4 Ala310Pro A310P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM22 Val255Ile V255I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9512 0.00021026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR52E8 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - NLRP14 Arg540Gln R540Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - OLFML1 Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - STK33 Glu98Asp E98D not reviewed Insufficiently evaluated not reviewed unknown Array rs34525052 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.49 - - -2 - 1 N - - ST5 Ala823Thr A823T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - MRVI1 Pro32Ala P32A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC136797 Leu277Ile L277I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - LRP4 Arg1019Lys R1019K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FNBP4 Pro49Arg P49R not reviewed Insufficiently evaluated not reviewed unknown Array rs11039375 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK Val1098Ile V1098I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A10 Pro344Ser P344S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJC4 Asn198Lys N198K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.488 - - 1 - 1 N - - VEGFB Met103Leu M103L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - -3 - 2 N - - NAALADL1 Lys398Thr K398T not reviewed Insufficiently evaluated not reviewed unknown Array rs12223986 9 10416 0.000864055 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.818 - - 3 - 1 N - - ACY3 Val281Met V281M not reviewed Insufficiently evaluated not reviewed unknown Array rs2290959 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - NADSYN1 Gly621Ser G621S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKRIR Ile355Val I355V not reviewed Insufficiently evaluated not reviewed unknown Array rs7105766 102 10712 0.00952203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYTL2 Asp32Gly D32G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PICALM Ser631Gly S631G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PICALM Pro434Ala P434A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 2 - 1 N - - GRM5 Val709Ile V709I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - SLC36A4 Arg210Thr R210T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.845 - - 3 - 1 N - - KIAA1731 Ala1270Gly A1270G not reviewed Insufficiently evaluated not reviewed unknown Array rs2298707 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - KIAA1731 Gly1441Glu G1441E not reviewed Insufficiently evaluated not reviewed unknown Array rs3802773 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1731 Lys1649Thr K1649T not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1731 Ala1939Thr A1939T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1731 Thr2149Ala T2149A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - KIAA1731 Ile2404Val I2404V not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FOLR4 His170Gln H170Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1377 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - EXPH5 Arg1698Del R1698Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FDXACB1 Met489Val M489V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - MLL Pro2354Arg P2354R not reviewed Insufficiently evaluated not reviewed unknown Array rs9332838 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 5 Y 1 N - - NLRX1 Arg305His R305H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 1 - 1 N - - USP2 Gly112Arg G112R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - TECTA Val1171Met V1171M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.747 Y - 0 - 2 N - - ARHGAP32 Asn749Ser N749S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RECQL Ala248Thr A248T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0528 Ala588Pro A588P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - SLC2A13 Ala415Thr A415T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS20 Ser1273Phe S1273F not reviewed Insufficiently evaluated not reviewed unknown Array rs7310011 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADAMTS20 Arg1000His R1000H not reviewed Insufficiently evaluated not reviewed unknown Array rs7297737 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS20 Lys876Met K876M not reviewed Insufficiently evaluated not reviewed unknown Array rs7302446 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARID2 Glu1249Lys E1249K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - MLL2 Pro2382Ser P2382S not reviewed Insufficiently evaluated not reviewed unknown Array rs3741626 37 10158 0.00364245 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SOAT2 Asn389Lys N389K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - OR6C6 Leu67Ser L67S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.829 - - 6 Y 1 N - - ERBB3 Arg1118Gln R1118Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - OS9 Asp305Asn D305N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF61 Leu11Val L11V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AVPR1A Phe373Ile F373I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 2 - 0 N - - SLC35E3 Ser75Phe S75F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CLLU1 Ser105Pro S105P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKS1B Val389Ala V389A not reviewed Insufficiently evaluated not reviewed unknown Array 7 9676 0.000723439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSP90B1 Ile233Thr I233T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CMKLR1 His215Gln H215Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPH3A Pro502Thr P502T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC24A6 Leu358Phe L358F not reviewed Insufficiently evaluated not reviewed unknown Array rs3764034 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - CIT Tyr6His Y6H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - P2RX7 Gln148Arg Q148R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLXIP Arg73Pro R73P not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - OGFOD2 Gly188Ala G188A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOR2 Tyr469Cys Y469C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RIMBP2 Asn159Ser N159S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - AK096230 Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFXAP Glu144Lys E144K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - AKAP11 Thr722Met T722M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUDT15 Arg139His R139H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 1 - 2 N - - LPAR6 Val37Ala V37A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - MYO16 Gln456His Q456H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - UPF3A Arg258Del R258Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR4K2 Cys97Arg C97R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - DCAF11 Thr339Ile T339I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - 3 - 0 N - - DACT1 Val390Ala V390A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PLEKHG3 Pro1143Leu P1143L not reviewed Insufficiently evaluated not reviewed unknown Array rs41310848 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFYVE26 Leu1235Val L1235V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.557 Y - 0 - 2 N - - MED6 Asp110Glu D110E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - ACOT2 Leu258His L258H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - TECPR2 Ser1155Arg S1155R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - C14ORF73 Arg154Ala R154A not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF73 Arg660Trp R660W not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TDRD9 Phe1278Cys F1278C not reviewed Insufficiently evaluated not reviewed unknown Array rs2273841 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 4 Y 1 N - - KIF26A Arg1761Trp R1761W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AHNAK2 Glu3029Gln E3029Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 9962 0.000501907 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - OR4N4 Phe274Leu F274L not reviewed Insufficiently evaluated not reviewed unknown Array rs3817271 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.642 - - 0 - 1 N - - CR619482 Ile79Thr I79T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HERC2 Arg2126Leu R2126L not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - UBR1 Arg1712His R1712H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TP53BP1 Ile1174Val I1174V not reviewed Insufficiently evaluated not reviewed unknown Array rs3803339 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DUOXA2 Thr256Ile T256I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RASL12 Arg82Ser R82S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - BC082247 His254Arg H254R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM154B Met352Val M352V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.599 - - 0 - 1 N - - ZNF592 Pro1210Leu P1210L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALPK3 Thr338Ile T338I not reviewed Insufficiently evaluated not reviewed unknown Array rs56015306 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - 3 - 2 N - - AKAP13 Gln584Lys Q584K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - -2 - 1 N - - AEN Arg169His R169H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - C15ORF42 Val1373Ile V1373I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIF7 Ser809Pro S809P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRRM2 Arg1182Ile R1182I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SRRM2 Arg1578Gln R1578Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLUAP1 Met108Ile M108I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - C16ORF71 Ser190Leu S190L not reviewed Insufficiently evaluated not reviewed unknown Array rs35599524 224 10758 0.0208217 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPL Glu609Del E609Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR597135 Thr251Met T251M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDXDC1 His778Asn H778N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - 0 - 0 N - - ABCC6P1 Gly208Arg G208R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SMG1 Ala35Thr A35T not reviewed Insufficiently evaluated not reviewed unknown Array rs12051350 29 9302 0.00311761 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP48 Tyr371Cys Y371C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITGAX Thr228Met T228M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - FAM65A Arg920His R920H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFATC3 Ser82Gly S82G not reviewed Insufficiently evaluated not reviewed unknown Array rs56326642 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTSS1L Asp165Gly D165G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - 4 Y 1 N - - MVD Arg87Cys R87C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - FAM38A Glu1354Lys E1354K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Gly1336Ser G1336S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM38A Arg543Cys R543C not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TCF25 Met351Leu M351L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.431 - - -3 - 1 N - - BC089450 Gly68Arg G68R not reviewed Insufficiently evaluated not reviewed unknown Array rs3743819 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR1E1 Phe189Cys F189C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GSG2 Ile189Thr I189T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSG2 Arg644Cys R644C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZZEF1 Asn862Ser N862S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GP1BA Leu86Phe L86F not reviewed Insufficiently evaluated not reviewed unknown Array rs13306411 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SOX15 Ser27Del S27Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALOX15B Glu671Gln E671Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.464 - - -2 - 1 N - - DNAH9 Met4286Lys M4286K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - FAM83G Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10488 9.5347e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - AMAC1 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array 2 100 0.02 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SLFN13 Arg511Ser R511S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 3 - 0 N - - GPR179 Leu2275Pro L2275P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT40 Leu308Met L308M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.923 - - -3 - 2 N - - KRTAP4-4 Arg22Cys R22C not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DHX8 Asp39Asn D39N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NAGS Ala314Thr A314T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - 1 - 2 N - - LRRC37A Lys558Met K558M not reviewed Insufficiently evaluated not reviewed unknown Array rs17857227 2 22 0.0909091 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - LRRC37A2 Lys558Met K558M not reviewed Insufficiently evaluated not reviewed unknown Array rs17857227 2 22 0.0909091 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - C17ORF57 Ala453Val A453V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPX Pro358Leu P358L not reviewed Insufficiently evaluated not reviewed unknown Array rs35135976 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - CA4 Asn177Lys N177K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - BCAS3 Pro35Leu P35L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9804 0.000305997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MRC2 Ala835Thr A835T not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACE Met828Thr M828T not reviewed Insufficiently evaluated not reviewed unknown Array rs13306091 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.048 Y - 2 - 1 N - - FDXR Pro352Ser P352S not reviewed Insufficiently evaluated not reviewed unknown Array rs35696549 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - 3 - 0 N - - EVPL Pro780Arg P780R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP36 Ala998Val A998V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AZI1 Ser52Asn S52N not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM200C Ala128Gly A128G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10138 0.000295916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C18ORF34 Leu188Ser L188S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASXL3 Glu1310Ala E1310A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.866 - - 3 - 2 N - - KIAA1632 Ile1131Val I1131V not reviewed Insufficiently evaluated not reviewed unknown Array rs3744997 1 9762 0.000102438 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - ODF3L2 Arg218Cys R218C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NM_152988 Pro516Ala P516A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - THOP1 Ala399Val A399V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD24 Arg1013Gln R1013Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - FBN3 Arg935Gln R935Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Val651Gln V651Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL5A3 Ile1594Met I1594M not reviewed Insufficiently evaluated not reviewed unknown Array rs3745581 130 10758 0.012084 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXW9 Ala234Val A234V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 2 - 1 N - - RTBDN Gly230Ala G230A not reviewed Insufficiently evaluated not reviewed unknown Array rs13628 655 10746 0.0609529 6 0 7 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - EPS15L1 Ser503Leu S503L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NCAN Pro523Leu P523L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - GPR42P Asn346Ser N346S not reviewed Insufficiently evaluated not reviewed unknown Array rs381478 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPHS1 Gly601Ala G601A not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - NPHS1 Glu447Lys E447K not reviewed Insufficiently evaluated not reviewed unknown Array rs28939695 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 0 - 3 N - - ZNF345 His34Arg H34R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - AX747376 Glu171Lys E171K not reviewed Insufficiently evaluated not reviewed unknown Array rs3745769 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUPT5H Asp27Asn D27N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TIMM50 Gly23Ser G23S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKT2 Arg347His R347H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - LTBP4 Ala28Val A28V not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP4 Arg1130Leu R1130L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM7 Ser23Leu S23L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ARHGEF1 Pro390Leu P390L not reviewed Insufficiently evaluated not reviewed unknown Array rs2303797 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSG9 Ile325Thr I325T not reviewed Insufficiently evaluated not reviewed unknown Array rs1135905 351 10590 0.0331445 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSG9 Asn322Asp N322D not reviewed Insufficiently evaluated not reviewed unknown Array rs3180651 3 114 0.0263158 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PSG9 Leu319Val L319V not reviewed Insufficiently evaluated not reviewed unknown Array rs1058281 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF224 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - 0 - 1 N - - ZNF296 Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - CD3EAP Pro15Thr P15T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 4 Y 2 N - - PNMAL2 Gly409Glu G409E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - SAE1 Val292Ala V292A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TMC4 Tyr157Cys Y157C not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP6R1 Thr374Met T374M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10392 9.6227e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - NLRP8 Arg617Gln R617Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - NLRP5 Glu1043Lys E1043K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP28 Arg166Gln R166Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ZNF470 Ile121Val I121V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - ZIK1 Tyr435Cys Y435C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZNF552 Trp242Cys W242C not reviewed Insufficiently evaluated not reviewed unknown Array rs2288538 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SNTG2 Trp436Cys W436C not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.084 - - 7 Y 0 N - - WDR35 Arg353Pro R353P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - EFR3B Arg458Cys R458C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - C2ORF53 Arg222Cys R222C not reviewed Insufficiently evaluated not reviewed unknown Array rs3739097 4 10726 0.000372925 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C2ORF71 Arg528Cys R528C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDKL4 Pro312Leu P312L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OXER1 Phe160Leu F160L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ACYP2 Ser64Cys S64C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - C2ORF73 Arg48Cys R48C not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MTIF2 Val549Leu V549L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCYOX1 Thr414Ser T414S not reviewed Insufficiently evaluated not reviewed unknown Array rs17005441 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - THNSL2 Val283Met V283M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 0 - 1 N - - ZNF2 Arg146His R146H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9852 0.000101502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - PROM2 Phe790Leu F790L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.114 - - 0 - 0 N - - NPAS2 Asp4Glu D4E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC9A4 Leu17Pro L17P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 7 Y 1 N - - CHCHD5 Cys79Tyr C79Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - SAP130 Ala759Gly A759G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM123C Pro433Ser P433S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - NR_002826 Arg340Cys R340C not reviewed Insufficiently evaluated not reviewed unknown Array rs3888005 3 62 0.0483871 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - YSK4 Arg1154His R1154H not reviewed Insufficiently evaluated not reviewed unknown Array rs56349597 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - YSK4 Asp100Glu D100E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - GALNT5 Arg743Trp R743W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TANC1 Thr284Met T284M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10158 9.8444e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TANK Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3769969 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GRB14 Leu225Ser L225S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.301 - - 6 Y 1 N - - SLC38A11 Thr111Ala T111A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DYNC1I2 Arg613Trp R613W not reviewed Insufficiently evaluated not reviewed unknown Array 1 9692 0.000103177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ZNF804A Ser738Gly S738G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH7 Arg503Ser R503S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 3 - 0 N - - SPAG16 Leu599Trp L599W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - BARD1 Ser241Cys S241C not reviewed Insufficiently evaluated not reviewed unknown Array rs3738885 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - ABCB6 Met138Val M138V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - OBSL1 Gly1284Ser G1284S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RHBDD1 Pro29Arg P29R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - AGFG1 Asn335Ser N335S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - ALPI Thr178Ala T178A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NEU4 His103Gln H103Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRN4 Gly360Arg G360R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - SSTR4 Cys271Gly C271G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYLK2 Thr17Lys T17K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 3 - 1 N - - C20ORF70 Leu51Val L51V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF71 Pro201Leu P201L not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PXMP4 Lys145Asn K145N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - FAM83C Arg385His R385H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MYL9 Lys170Glu K170E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FITM2 Lys39Arg K39R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -3 - 2 N - - CLDN17 Arg56Gln R56Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 1 N - - URB1 Leu1469Pro L1469P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - PKNOX1 Thr329Asn T329N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - AK098727 Glu289Ala E289A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJB7 Glu41Ala E41A not reviewed Insufficiently evaluated not reviewed unknown Array rs2269619 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - CYB5R3 Phe105Val F105V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - TUBGCP6 Val1232Met V1232M not reviewed Insufficiently evaluated not reviewed unknown Array rs17248287 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SETD5 Tyr885His Y885H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10128 0.000197472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - -1 - 1 N - - GALNTL2 Pro324Ala P324A not reviewed Insufficiently evaluated not reviewed unknown Array rs12634179 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - SCN10A Ile1097Met I1097M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RPL14 Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10308 0.00126116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC13 Gly153Arg G153R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - HYAL1 Thr392Met T392M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.181 Y - 2 - 1 N - - ALAS1 Gln175His Q175H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GNL3 Arg528Gly R528G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITIH3 Arg789His R789H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - ROBO2 Arg383His R383H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - CRYBG3 Val840Leu V840L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - IMPG2 Ser811Ala S811A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - -1 - 1 N - - SENP7 Glu489Asp E489D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC80 Thr384Met T384M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 1 N - - SPICE1 Ile94Val I94V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -4 - 0 N - - COL6A5 Gln2238Arg Q2238R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9468 0.000316856 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - COL6A6 Ala1798Gly A1798G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - PPP2R3A Arg1088Gln R1088Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.91 - - 0 - 2 N - - GRK7 Ser115Cys S115C not reviewed Insufficiently evaluated not reviewed unknown Array rs34769632 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - IGSF10 Ile458Val I458V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IFT80 Ala315Thr A315T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP13 Leu305Phe L305F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - DGKG Gly385Ser G385S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FETUB Thr276Ile T276I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Thr315Pro T315P not reviewed Insufficiently evaluated not reviewed unknown Array rs3828402 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C3ORF43 Glu44Lys E44K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9910 0.000100908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAK Ser1300Leu S1300L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 6 Y 1 N - - SLC26A1 Thr562Met T562M not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WHSC2 Ser335Ala S335A not reviewed Insufficiently evaluated not reviewed unknown Array rs2234569 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.875 - - -1 - 2 N - - ZFYVE28 Ser672Leu S672L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10742 0.00176876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZFYVE28 Pro671Ser P671S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - JAKMIP1 Thr309Met T309M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 2 N - - SH3TC1 Ser858Arg S858R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC2A9 Pro103Ala P103A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - CLNK Ser65Gly S65G not reviewed Insufficiently evaluated not reviewed unknown Array rs16869924 45 10078 0.00446517 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - PACRGL Lys53Arg K53R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GBA3 Ile260Val I260V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPATA18 Arg454Cys R454C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - KIT Ala168Thr A168T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - UGT2B11 Phe74Leu F74L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - UGT2B11 Ser70Phe S70F not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 0 N - - GC Arg21Gln R21Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CXCL3 Ser64Phe S64F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPEF2 Ala561Thr A561T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AFF1 Gly152Ser G152S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - 2 - 0 N - - METAP1 Gly124Asp G124D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 4 Y 0 N - - CASP6 Ser79Leu S79L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NM_001099776 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.782 - - 0 - 1 N - - C4ORF21 Phe603Leu F603L not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAMK2D Thr493Ile T493I not reviewed Insufficiently evaluated not reviewed unknown Array rs35765784 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 3 - 0 N - - FHDC1 Arg573Trp R573W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MAP9 His277Arg H277R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - FAT1 Ser2806Asn S2806N not reviewed Insufficiently evaluated not reviewed unknown Array rs726575 8 9802 0.000816159 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - IRX4 Asp106Glu D106E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - ADAMTS12 Pro1414Ala P1414A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - C5ORF42 Ser1167Asn S1167N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD17 Ile467Thr I467T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - POLK Ile128Val I128V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.878 - - -4 - 2 N - - IQGAP2 Pro479Arg P479R not reviewed Insufficiently evaluated not reviewed unknown Array rs3822530 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CMYA5 Glu35Lys E35K not reviewed Insufficiently evaluated not reviewed unknown Array 8 8552 0.000935453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - CMYA5 Tyr2320His Y2320H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -1 - 2 N - - MSH3 Ser119Phe S119F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARSK His136Tyr H136Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.484 - - -1 - 1 N - - PAM Pro876Leu P876L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSD17B4 Thr687Ile T687I not reviewed Insufficiently evaluated not reviewed unknown Array rs28943592 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.961 Y - 3 - 3 N - - HSPA4 Glu541Gly E541G not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FSTL4 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDC23 Asn287Ser N287S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMCO6 Leu158Ile L158I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - -2 - 1 N - - NDUFA2 Lys64Arg K64R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - -3 - 0 N - - WDR55 Lys341Arg K341R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - AX746964 Ala150Val A150V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A2 Val181Gly V181G not reviewed Insufficiently evaluated not reviewed unknown Array rs3749779 18 10758 0.00167317 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC6A7 Gly338Ser G338S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 2 N - - FAT2 Arg992Gln R992Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3734056 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - KIF4B Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIF4B Met522Ile M522I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - KIF4B Thr757Ile T757I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - ATP10B Ser1183Arg S1183R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAPK9 Gly268Ala G268A not reviewed Insufficiently evaluated not reviewed unknown Array rs35693958 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - EXOC2 Thr594Met T594M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.858 - - 2 - 2 N - - HIST1H2BA Gly8Ser G8S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - HIST1H1A Lys151Glu K151E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIST1H4D Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF165 Phe286Val F286V not reviewed Insufficiently evaluated not reviewed unknown Array rs35027728 191 10756 0.0177575 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - OR11A1 Tyr121Cys Y121C not reviewed Insufficiently evaluated not reviewed unknown Array rs16894898 156 7518 0.0207502 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.821 - - 6 Y 1 N - - OR2H2 Ser6Tyr S6Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61744969 151 7524 0.0200691 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GABBR1 Phe645Leu F645L not reviewed Insufficiently evaluated not reviewed unknown Array rs2076489 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.705 - - 0 - 1 N - - ZFP57 Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF15 Val5Met V5M not reviewed Insufficiently evaluated not reviewed unknown Array rs2270191 55 10474 0.0052511 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDSN Ser453Asn S453N not reviewed Insufficiently evaluated not reviewed unknown Array rs117951780 65 10758 0.00604201 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNXB Val2919Met V2919M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - NOTCH4 Ser244Leu S244L not reviewed Insufficiently evaluated not reviewed unknown Array rs8192585 224 7524 0.0297714 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BTNL2 Met295Val M295V not reviewed Insufficiently evaluated not reviewed unknown Array rs41417449 45 7520 0.00598404 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - BTNL2 Gly143Asp G143D not reviewed Insufficiently evaluated not reviewed unknown Array 137 7514 0.0182326 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - HLA-DRB5 Gln220Arg Q220R not reviewed Insufficiently evaluated not reviewed unknown Array rs1136905 923 5864 0.157401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HLA-DRB5 Arg218Ser R218S not reviewed Insufficiently evaluated not reviewed unknown Array 36 5718 0.00629591 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 3 - 0 N - - ITPR3 Arg228Gln R228Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGD2 Asp502Asn D502N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - MDGA1 Lys654Gln K654Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - TFEB Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC22A7 Gly505Val G505V not reviewed Insufficiently evaluated not reviewed unknown Array rs70953693 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPACA1 Arg146His R146H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - GPR63 Tyr193Phe Y193F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - -4 - 1 N - - BEND3 Val715Ser V715S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - REV3L Pro2864Leu P2864L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 7 Y 1 N - - TXLNB Asp535His D535H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - FBXO30 Ser330Pro S330P not reviewed Insufficiently evaluated not reviewed unknown Array rs3811103 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - MYCT1 Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - TIAM2 Asp1572Glu D1572E not reviewed Insufficiently evaluated not reviewed unknown Array rs1571767 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - TTLL2 Gln529His Q529H not reviewed Insufficiently evaluated not reviewed unknown Array rs12528714 173 10758 0.0160811 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPER Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - NM_001099942 Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SCIN Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - MACC1 Ala352Gly A352G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 1 - 1 N - - ABCB5 Leu437Phe L437F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SP4 Leu241Val L241V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH11 Arg20Ser R20S not reviewed Insufficiently evaluated not reviewed unknown Array rs72655967 3 7788 0.000385208 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - C7ORF31 Ile400Leu I400L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK096334 Leu113Gln L113Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA13 Lys4939Arg K4939R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GRB10 Tyr16His Y16H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - ANKIB1 Val1014Met V1014M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7ORF64 Asn192Tyr N192Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TRRAP Arg1607Leu R1607L not reviewed Insufficiently evaluated not reviewed unknown Array rs3735363 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZKSCAN5 Pro103Ser P103S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CYP3A7 Ala297Val A297V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - ZAN Ile527Met I527M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZAN Thr2526Met T2526M not reviewed Insufficiently evaluated not reviewed unknown Array rs3847059 14 10216 0.0013704 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Ser1745Arg S1745R not reviewed Insufficiently evaluated not reviewed unknown Array 5 98 0.0510204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC17 Thr1748Ser T1748S not reviewed Insufficiently evaluated not reviewed unknown Array 3 88 0.0340909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF133 Ser15Thr S15T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ASB15 Ala31Thr A31T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRRT4 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56272205 464 3234 0.143476 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_002144 Phe56Leu F56L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM40B Thr254Ala T254A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - CPA4 Pro157Thr P157T not reviewed Insufficiently evaluated not reviewed unknown Array rs3735051 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 4 Y 0 N - - KRBA1 Glu533Gln E533Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIMAP6 Glu12Asp E12D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABP1 Met479Ile M479I not reviewed Insufficiently evaluated not reviewed unknown Array rs45558339 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - -1 - 1 N - - NCAPG2 Ala993Thr A993T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCAPG2 Ile265Met I265M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 2 N - - CR600473 Thr88Ser T88S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AMAC1L2 Leu45Met L45M not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAM7 Ile453Thr I453T not reviewed Insufficiently evaluated not reviewed unknown Array rs3736281 88 10754 0.008183 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IKBKB Met83Val M83V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - CSPP1 Ile215Val I215V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RGS22 Val844Ile V844I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -4 - 1 N - - TRHR Ile168Met I168M not reviewed Insufficiently evaluated not reviewed unknown Array rs13306060 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MED30 Gln23Arg Q23R not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - JRK Pro349Leu P349L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PYCRL Leu39Pro L39P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 7 Y 0 N - - PLEC Val633Met V633M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOSC4 Arg104Gln R104Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - CPSF1 Pro126Ala P126A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - TONSL Arg687Cys R687C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA2026 Gln1023His Q1023H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - UHRF2 Asp668Asn D668N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - PIP5K1B Lys397Arg K397R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -3 - 0 N - - C9ORF79 Thr694Ile T694I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPDC1 Leu623Gln L623Q not reviewed Insufficiently evaluated not reviewed unknown Array rs16909677 1 10758 9.2954e-05 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM22F Lys355Asn K355N not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - ABCA1 Leu1648Val L1648V not reviewed Insufficiently evaluated not reviewed unknown Array 5 116 0.0431034 4 0 4 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SVEP1 Gln1352Arg Q1352R not reviewed Insufficiently evaluated not reviewed unknown Array 76 9768 0.00778051 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - BC130414 Arg42Pro R42P not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIF12 Tyr220Cys Y220C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR1L8 Arg3Ile R3I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - RABEPK Pro121Ser P121S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 2 N - - CRAT Ala624Pro A624P not reviewed Insufficiently evaluated not reviewed unknown Array rs17459086 92 10752 0.00855655 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AL834139 Ser437Gly S437G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC2A6 Leu375Val L375V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTSL2 Glu416Lys E416K not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.068 - Y 0 - 1 N - - MRPS2 Asp281Asn D281N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SEC16A Pro929Leu P929L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCN6 Val21Met V21M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10750 0.000465116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF86 Pro530Leu P530L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10470 0.00210124 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CRLF2 Pro224Leu P224L not reviewed Insufficiently evaluated not reviewed unknown Array 1 93 0.0107527 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM47B Leu438Pro L438P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.578 - - 7 Y 1 N - - CXORF59 Arg273Gln R273Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB41 Ile139Leu I139L not reviewed Insufficiently evaluated not reviewed unknown Array rs2297873 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.561 - - -2 - 1 N - - ERCC6L Ala812Thr A812T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRCH2 Thr383Ala T383A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - ZBTB33 Leu381Pro L381P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ODZ1 Thr2245Ser T2245S not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAGEC1 Gln257His Q257H not reviewed Insufficiently evaluated not reviewed unknown Array 27 7961 0.00339153 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LAGE3 Ile121Thr I121T not reviewed Insufficiently evaluated not reviewed unknown Array 4 92 0.0434783 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 2 N - - IL9R Ser100Thr S100T not reviewed Insufficiently evaluated not reviewed unknown Array rs3747328 2 93 0.0215054 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.84 - - -2 - 1 N - - PCDH11Y Ile41Val I41V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - TSPY3 Trp10Arg W10R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KDM5D Thr284Ala T284A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PEX14 Asp331Glu D331E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -2 - 2 N - - CROCC Gln917Stop Q917X not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HSPG2 Arg3530Trp R3530W not reviewed Insufficiently evaluated not reviewed unknown Array rs2270699 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PTCH2 Ser391Shift S391Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56126236 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CASQ2 Val76Met V76M not reviewed Insufficiently evaluated not reviewed unknown Array rs10801999 16 10758 0.00148726 4 0 4 0 0 1 Y - - - - - - - - - - Y - - - 0.551 Y Y 0 - 3 N - - NOTCH2 Arg1260His R1260H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.184 Y Y 1 - 2 N - - FASLG Pro60Shift P60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CD46 Ser13Phe S13F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y 5 Y 2 N - - USH2A Ser5188Gly S5188G not reviewed Insufficiently evaluated not reviewed unknown Array rs58257972 26 10758 0.00241681 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 2 - 4 N - - NSUN6 Arg319Stop R319X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MYO3A Gln283Pro Q283P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 4 Y 1 N - - LGI1 Arg407His R407H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y Y 1 - 4 N - - EIF3A His40Shift H40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNQ1 Arg401Shift R401Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - AB290171 Glu753Shift E753Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USH1C Arg155Pro R155P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CKAP5 Ala546Shift A546Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NAALAD2 Leu459Shift L459Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDS5B Asn1110Shift N1110Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ866763 Ala182Shift A182Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 72 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCK2 Arg244Trp R244W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - C14ORF135 Leu491Stop L491X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AHNAK2 Ser1112Shift S1112Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71975166 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG11 Tyr396Cys Y396C not reviewed Insufficiently evaluated not reviewed unknown Array rs3759875 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CLN6 Gly116Ala G116A not reviewed Insufficiently evaluated not reviewed unknown Array rs2292746 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CLN3 Leu224Shift L224Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CLN3 Ile105Val I105V not reviewed Insufficiently evaluated not reviewed unknown Array rs11552531 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y -4 - 4 N - - ANKRD11 Ala1193Shift A1193Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Val25Shift V25Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF107 Pro59Shift P59Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UNC13D Ile410Leu I410L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y -2 - 2 N - - NM_173627 Arg99Stop R99X not reviewed Insufficiently evaluated not reviewed unknown Array rs35171431 1 10526 9.5002e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF559 Arg510Stop R510X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ICAM1 Val305Shift V305Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC6A16 Ser25Shift S25Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COLEC11 Pro112Shift P112Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SIX3 Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 1 42 0.0238095 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.073 Y Y 1 - 2 N - - LASS6 Trp160Stop W160X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Arg29456Cys R29456C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - COL6A3 Ala2960Del A2960Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71704006 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PROKR2 Trp178Ser W178S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - RALGAPB Ile1406Shift I1406Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC036876 Ser92Stop S92X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BPIL2 Phe263Shift F263Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIOBP Arg237Trp R237W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 7 Y 1 N - - TTLL8 Ala751Shift A751Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC6A6 Cys556Stop C556X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MLH1 Pro581Leu P581L pathogenic Insufficiently evaluated pathogenic dominant Array rs63751684 1 128 0.0078125 1 0 1 3 2 3 Y - - - - - - 4 Y 3 Y Y - - - 0.676 Y Y 7 Y 3 N - - FAM116A Leu251Stop L251X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM116A Gln250Stop Q250X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLNB Ala2076Thr A2076T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 1 - 4 N - - FGFR3 Gly65Arg G65R not reviewed Insufficiently evaluated not reviewed unknown Array rs2305178 9 10700 0.000841121 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - POLN Gln837Shift Q837Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3833632 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WFS1 Ile720Val I720V not reviewed Insufficiently evaluated not reviewed unknown Array rs1805070 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -4 - 2 N - - CC2D2A Ile961Thr I961T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.252 Y Y 3 - 3 N - - HELQ Ala1073Shift A1073Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PPID His146Shift H146Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTC23L Arg113Stop R113X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VCAN Lys1516Glu K1516E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NIPAL4 Ser269Thr S269T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - HLA-H Lys133Gln K133Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 68 0.0294118 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - HLA-H Arg187Pro R187P not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CFB Arg74His R74H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 1 - 4 N - - PKHD1 Gly2081Glu G2081E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SYNE1 Thr2853Ala T2853A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 1 - 2 N - - COL1A2 Pro350Ser P350S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - PVRIG Pro311Shift P311Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKR1B15 His269Shift H269Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP6V0A4 Asp626Tyr D626Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - VPS13B Tyr609His Y609H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y -1 - 4 N - - VPS13B Leu1738Val L1738V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 0 - 3 N - - JAK2 Thr1049Shift T1049Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 2 N - - BCOR Gln312Del Q312Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TBX22 Ala390Asp A390D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 5 Y 1 N - - COL4A5 Pro1213Leu P1213L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ATAD3C Arg30Cys R30C not reviewed Insufficiently evaluated not reviewed unknown Array 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MIB2 Lys689Glu K689E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - MEGF6 Arg1253His R1253H not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - CHD5 Lys1694Glu K1694E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - GPR153 Gly169Ser G169S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - SLC2A7 Ile432Thr I432T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 3 - 1 N - - CROCC Thr56Ile T56I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.759 - - 3 - 1 N - - CROCC Arg918Leu R918L not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - NBPF3 Glu524Val E524V not reviewed Insufficiently evaluated not reviewed unknown Array 2 84 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - MAP3K6 Pro958Thr P958T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - ZMYM6 His86Leu H86L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0319L Thr234Ala T234A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - CLSPN Ser7Phe S7F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HEYL Pro36Ala P36A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 2 - 0 N - - HIVEP3 Val1318Leu V1318L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - HIVEP3 Pro1259Ser P1259S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - TIE1 Val732Ile V732I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.567 - - -4 - 1 N - - PTPRF Asp670Asn D670N not reviewed Insufficiently evaluated not reviewed unknown Array rs17849102 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - AK127270 Pro245Arg P245R not reviewed Insufficiently evaluated not reviewed unknown Array rs111835607 28 3212 0.00871731 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNNI3K Ile787Thr I787T not reviewed Insufficiently evaluated not reviewed unknown Array rs3737564 44 10758 0.00408998 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - USP33 Thr303Ile T303I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYDE2 Arg70Leu R70L not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL24A1 Pro1211Leu P1211L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 7 Y 1 N - - RTCD1 Arg186His R186H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - DPH5 Arg207Gln R207Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CYB561D1 Pro223Leu P223L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - C1ORF162 Met91Ile M91I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAGI3 Lys364Glu K364E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIKE1 Met203Val M203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR Gly766Ser G766S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GON4L Pro1010Leu P1010L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SEMA4A Arg510Gln R510Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2075164 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.596 Y - 0 - 2 N - - BCAN Ser704Pro S704P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - FCRL3 Asp231His D231H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - ITLN2 Arg251Gln R251Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - HSPA6 Pro65Thr P65T not reviewed Insufficiently evaluated not reviewed unknown Array rs41297698 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - RGS4 Ala90Glu A90E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALDH9A1 Lys125Thr K125T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 3 - 2 N - - FAM5B Leu740Ile L740I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - -2 - 1 N - - CEP350 Ser1119Leu S1119L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1614 His214Tyr H214Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3747959 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - HMCN1 Gln1974His Q1974H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.048 Y - -1 - 1 N - - LHX9 Gly210Ser G210S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPFIA4 Thr779Met T779M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOG Pro8Ala P8A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - FCAMR Ser307Asn S307N not reviewed Insufficiently evaluated not reviewed unknown Array rs3813954 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCAMR Thr246Pro T246P not reviewed Insufficiently evaluated not reviewed unknown Array rs3813953 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR2 Ala1041Val A1041V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB3GAP2 His1048Arg H1048R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - TMEM63A Ala632Val A632V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCB10 Ala150Ser A150S not reviewed Insufficiently evaluated not reviewed unknown Array rs4148756 1 3612 0.000276854 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - TARBP1 Ile967Arg I967R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 2 N - - ZNF496 Val351Met V351M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.55 - - 0 - 1 N - - ACBD5 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SVIL Glu1377Lys E1377K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - ZEB1 Gly90Arg G90R not reviewed Insufficiently evaluated not reviewed unknown Array rs12217419 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DQ575272 Met14Val M14V not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - NCOA4 Leu261Phe L261F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - FAM21A Ser521Tyr S521Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2596979 921 6448 0.142835 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CSTF2T GlyGlyIleGlnGly546Del GGIQG546Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSTF2T LeuCys221ProGly LC221PG not reviewed Insufficiently evaluated not reviewed unknown Array 7 38 0.184211 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - MYPN Arg996Gln R996Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - C10ORF99 Gln80His Q80H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RRP12 Leu519Gln L519Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 5 Y 2 N - - BTRC Pro592His P592H not reviewed Insufficiently evaluated not reviewed unknown Array rs2270439 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - C10ORF79 Ser296Leu S296L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRAP His1246Gln H1246Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - RGS10 Val52Met V52M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CUZD1 Val246Met V246M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - 0 - 1 N - - ADAM8 Pro115Leu P115L not reviewed Insufficiently evaluated not reviewed unknown Array rs3810960 10 8840 0.00113122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTDSS2 Ser456Gly S456G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DRD4 Cys127Tyr C127Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRDD Thr139Ser T139S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751730 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - MUC6 GlnThr1821HisAla QT1821HA not reviewed Insufficiently evaluated not reviewed unknown Array rs34232586 2 24 0.0833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - OR52B4 Ile106Thr I106T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - MMP26 Thr50Ile T50I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - OR51I2 Arg300Cys R300C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - OR52E8 His177Pro H177P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 5 Y 2 N - - MRVI1 Glu275Asp E275D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CALCA Gln138Pro Q138P not reviewed Insufficiently evaluated not reviewed unknown Array rs13306224 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.452 - - 4 Y 1 N - - BC136797 Asp104Glu D104E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GTF2H1 Arg234Trp R234W not reviewed Insufficiently evaluated not reviewed unknown Array rs4150603 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZDHHC13 Ala166Val A166V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - PRMT3 Ala210Glu A210E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - BC156059 Glu780Asp E780D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DGKZ Leu412Glu L412E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR5D18 Val215Ile V215I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZDHHC5 Ser634Leu S634L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - C11ORF66 Pro255Ser P255S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHNAK Pro5390Thr P5390T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - AHNAK Asn3637Ser N3637S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Val1098Phe V1098F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GANAB Gln68Arg Q68R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SLC22A10 Pro33Ser P33S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 3 - 0 N - - LGALS12 Gly131Val G131V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - MAP4K2 Asn436His N436H not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ANKRD13D Arg257Pro R257P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CARNS1 Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - ALDH3B2 Ser302Arg S302R not reviewed Insufficiently evaluated not reviewed unknown Array rs4646826 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TPCN2 Pro120Leu P120L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - 7 Y 1 N - - CHRDL2 Pro415Leu P415L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DGAT2 Asp21Asn D21N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10684 0.000374391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - -1 - 0 N - - RSF1 Val678Leu V678L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - PCSK7 Val143Phe V143F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP164 Pro127Arg P127R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.406 - - 5 Y 1 N - - IL10RA Glu454Lys E454K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.154 - - 0 - 0 N - - RNF26 Arg303Gln R303Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - HEPACAM Gln284Arg Q284R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 0 - 0 N - - C1S Val327Leu V327L not reviewed Insufficiently evaluated not reviewed unknown Array rs2239170 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - C1S Arg383His R383H not reviewed Insufficiently evaluated not reviewed unknown Array rs20573 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - EU095394 Leu88Met L88M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KLRK1 Arg66Cys R66C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRP6 Arg792Gln R792Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASC1 Arg20Pro R20P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FGFR1OP2 Ser253Asn S253N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - IRAK4 Arg183Gln R183Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.08 Y - 0 - 1 N - - SLC38A2 Ser280Phe S280F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LARP4 Thr49Ala T49A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 0 N - - KRT81 Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.073 Y - 1 - 1 N - - KRT73 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 8 Y 2 N - - LRP1 Met2711Val M2711V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - MARS Lys898Thr K898T not reviewed Insufficiently evaluated not reviewed unknown Array rs28382854 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRIQ1 Gln260His Q260H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF29 Asp258Asn D258N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SOCS2 Ser52Asn S52N not reviewed Insufficiently evaluated not reviewed unknown Array rs3741676 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGD6 Thr314Ala T314A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 1 - 0 N - - SRRM4 Val4Ile V4I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COQ5 Asp260Asn D260N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.357 - - -1 - 1 N - - LRRC43 Arg567Gln R567Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - NM_001083900 Val1381Leu V1381L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIMBP2 Pro593Arg P593R not reviewed Insufficiently evaluated not reviewed unknown Array rs2292664 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - MIPEP Arg662Cys R662C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 8 Y 2 N - - RNF17 Pro361Ser P361S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CENPJ Asn23Ser N23S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 - Y 0 - 1 N - - CENPJ Met21Leu M21L not reviewed Insufficiently evaluated not reviewed unknown Array rs35498994 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 - Y -3 - 3 N - - MTMR6 Ala599Thr A599T not reviewed Insufficiently evaluated not reviewed unknown Array rs62619824 683 10758 0.0634876 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MTIF3 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - HMGB1 Glu210Asp E210D not reviewed Insufficiently evaluated not reviewed unknown Array rs13329439 2 84 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - N4BP2L1 Ala59Thr A59T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - NBEA Leu528Ser L528S not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C13ORF23 Pro756Thr P756T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C13ORF23 Pro384Ala P384A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNRG Asn254Ser N254S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - COMMD6 Met28Val M28V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - MYCBP2 Arg500Gln R500Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - SLC15A1 Arg459Cys R459C not reviewed Insufficiently evaluated not reviewed unknown Array rs2274827 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CUL4A Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DQ866763 SerValArg186LeuHisMet SVR186LHM not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR10G3 Arg292Gln R292Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 0 - 2 N - - GZMB Asn210Lys N210K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - AKAP6 Ile2129Thr I2129T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF135 Ser625Pro S625P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIX4 Asn593Ile N593I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNE2 Tyr4015His Y4015H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BX161387 Ala72Thr A72T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFYVE26 Leu387Phe L387F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 0 - 3 N - - SLC10A1 Val200Met V200M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - ADAM20 Gly592Ser G592S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN21 Val1118Met V1118M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSP90AA1 Val294Gly V294G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIF26A Gly1107Ser G1107S not reviewed Insufficiently evaluated not reviewed unknown Array rs3742946 2 9488 0.000210792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Ala1119Val A1119V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - 2 - 1 N - - AHNAK2 Thr1118Arg T1118R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9756 0.000307503 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.31 - - 3 - 1 N - - AHNAK2 Thr1043Ala T1043A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10016 0.00029952 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.422 - - 1 - 1 N - - C14ORF80 Arg53Trp R53W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - X58402 Pro125Thr P125T not reviewed Insufficiently evaluated not reviewed unknown Array 1255 10158 0.123548 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - OR4M2 IleCys200MetGly IC200MG not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001080841 Leu2Phe L2F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP10A Arg209Trp R209W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OIP5 Ser165Phe S165F not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.87 - - 5 Y 2 N - - NDUFAF1 Pro26Ala P26A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 2 - 2 N - - MGA Thr338Ala T338A not reviewed Insufficiently evaluated not reviewed unknown Array rs3803348 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MAPKBP1 Gly1350Cys G1350C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 7 Y 0 N - - DUOX2 Ala1323Val A1323V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC12A1 Ala733Val A733V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC12A1 Ala737Val A737V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - DMXL2 SerSer1287IlePro SS1287IP not reviewed Insufficiently evaluated not reviewed unknown Array rs12102203 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RFX7 Lys1351Asn K1351N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGDCC4 Val191Met V191M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10718 9.33e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CYP1A2 Thr438Ile T438I not reviewed Insufficiently evaluated not reviewed unknown Array rs45486893 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - 3 - 1 N - - COX5A Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_024776 Thr1429Met T1429M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 2 - 0 N - - KIAA1199 Pro1169Ala P1169A not reviewed Insufficiently evaluated not reviewed unknown Array rs16972583 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SOLH Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM195A Glu95Lys E95K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - PTX4 Glu76Gln E76Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFT140 Gly1027Arg G1027R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM204 Arg54Ser R54S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10222 9.7828e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.62 - - 3 - 1 N - - RNF151 Val22Ile V22I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10216 0.000978856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - PRSS21 Arg264Gln R264Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2072273 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - NLRC3 Gly374Arg G374R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 1 N - - GLIS2 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10684 0.000561587 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - ROGDI Tyr193Phe Y193F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -4 - 2 N - - PPL Arg689His R689H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10688 0.000842065 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPL Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GSPT1 Arg201Gly R201G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - ABCC6P1 Val262Ile V262I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VWA3A Gly915Cys G915C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNRC6A Pro312Ser P312S not reviewed Insufficiently evaluated not reviewed unknown Array rs72770407 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - TNRC6A Thr502Ser T502S not reviewed Insufficiently evaluated not reviewed unknown Array rs72770408 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - KIAA0556 Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MVP Arg651Gln R651Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3764944 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ASPHD1 Gly13Arg G13R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10642 9.3967e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF843 Pro21Ser P21S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF78 Tyr218His Y218H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBL2 Arg55Pro R55P not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 5 Y 0 N - - CES5A Val220Met V220M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MT1E Cys7Tyr C7Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - MT1G Gly47Asp G47D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MMP15 Pro350Leu P350L not reviewed Insufficiently evaluated not reviewed unknown Array rs41335851 1 10694 9.351e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - CNOT1 Gln1035His Q1035H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.354 - - -1 - 1 N - - CES3 Ile213Asn I213N not reviewed Insufficiently evaluated not reviewed unknown Array rs71647894 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NOL3 Arg37Trp R37W not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPEP3 Ile290Met I290M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX19B Pro32Ala P32A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - HYDIN Arg2539Gln R2539Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF23 Pro195Thr P195T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - HPR Arg219His R219H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10182 9.8212e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - PMFBP1 Ile171Ser I171S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 2 N - - CHST5 Arg287His R287H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 1 - 2 N - - PKD1L2 Phe719Leu F719L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDR42E1 Gly320Asp G320D not reviewed Insufficiently evaluated not reviewed unknown Array rs3813012 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 4 Y 2 N - - BC160930 Val31Gly V31G not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC089450 Ala143Val A143V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO1C Val48Met V48M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR3A1 Arg131Gln R131Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - OR3A1 Phe126Leu F126L not reviewed Insufficiently evaluated not reviewed unknown Array rs56379678 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 0 - 0 N - - SHPK Val317Leu V317L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - PSMB6 Leu5Ser L5S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM95 Arg92Gln R92Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ZBTB4 Asp282Gly D282G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 4 Y 2 N - - NCOR1 Thr1670Ala T1670A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - SREBF1 Arg1167Gly R1167G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC13A2 Val314Ile V314I not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - -4 - 1 N - - UNC45B Gly802Arg G802R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - KRT34 Arg376Trp R376W not reviewed Insufficiently evaluated not reviewed unknown Array rs61740668 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KRT32 Ile313Val I313V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - SLC4A1 Glu72Asp E72D not reviewed Insufficiently evaluated not reviewed unknown Array rs13306788 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - PDK2 Lys66Glu K66E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - MYCBPAP Ala535Val A535V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 2 - 1 N - - MYCBPAP Arg830Trp R830W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - C17ORF47 Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBX4 Gly208Ser G208S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 2 - 1 N - - MED13 Thr862Ala T862A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TANC2 Gly567Arg G567R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9512 0.00010513 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TEX2 Leu1071Ser L1071S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 6 Y 1 N - - NOL11 Thr614Met T614M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - GPR142 Val157Ile V157I not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - FBF1 Thr372Met T372M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNRC6C Gly490Ala G490A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - CARD14 Arg62Gln R62Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10504 0.0050457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - 0 - 0 N - - NM_173627 Lys114Arg K114R not reviewed Insufficiently evaluated not reviewed unknown Array rs41298706 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - AZI1 Arg285Trp R285W not reviewed Insufficiently evaluated not reviewed unknown Array rs3803764 5 10584 0.000472411 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSPAN10 Gly214Arg G214R not reviewed Insufficiently evaluated not reviewed unknown Array rs35789723 24 10646 0.00225437 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP14 Met352Thr M352T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - PSMG2 Gly14Ser G14S not reviewed Insufficiently evaluated not reviewed unknown Array rs3809917 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - DSG1 Arg45Gln R45Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CDH19 Phe505Leu F505L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TMX3 Trp7Arg W7R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10626 0.000564652 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - C19ORF21 Ala392Val A392V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRIN3B Ile706Val I706V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - TBXA2R Arg352Trp R352W not reviewed Insufficiently evaluated not reviewed unknown Array rs13306048 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFR2 Thr194Ile T194I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 3 - 2 N - - FSD1 Asn102Ser N102S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - ZNRF4 Gly121Ser G121S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - PNPLA6 Val19Ala V19A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10734 0.000838457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ala11306Val A11306V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ser4027Arg S4027R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ICAM1 Thr304Pro T304P not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - C19ORF52 Asn126Ser N126S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACP5 Val106Met V106M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - 0 - 1 N - - TECR Arg79Trp R79W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.835 - - 7 Y 1 N - - PGLYRP2 Ser239Thr S239T not reviewed Insufficiently evaluated not reviewed unknown Array 2 100 0.02 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.243 - - -2 - 1 N - - F2RL3 Ala294Asp A294D not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 5 Y 2 N - - KIAA1683 Thr1305Ser T1305S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1683 Ile517Thr I517T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF208 Glu890Gln E890Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10466 9.5547e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.678 - - -2 - 1 N - - ZNF99 Pro915Ser P915S not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - ZNF99 Gly912Arg G912R not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - ZNF99 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 1 - 0 N - - KCTD15 Thr197Ile T197I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - KIAA0355 Gln30His Q30H not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WTIP Val330Met V330M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF30 Ser144Arg S144R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD22 Ser664Gly S664G not reviewed Insufficiently evaluated not reviewed unknown Array rs17719289 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNK6 Thr150Ile T150I not reviewed Insufficiently evaluated not reviewed unknown Array rs35762773 26 10756 0.00241725 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.423 - - 3 - 1 N - - TIMM50 Pro29Leu P29L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - PSG9 Leu319Ile L319I not reviewed Insufficiently evaluated not reviewed unknown Array rs1058281 537 10608 0.0506222 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NKPD1 Val118Leu V118L not reviewed Insufficiently evaluated not reviewed unknown Array rs3810144 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.265 - - 0 - 1 N - - MARK4 Ala606Thr A606T not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RSPH6A Pro474Leu P474L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZC3H4 Gly269Ser G269S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - BBC3 Pro26Arg P26R not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.549 - - 5 Y 1 N - - SYNGR4 Gly73Ser G73S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 2 - 2 N - - CCDC155 Ala453Val A453V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYH14 Lys865Gln K865Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - POLD1 Asp644Glu D644E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.487 - - -2 - 1 N - - C19ORF51 Leu308Pro L308P not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRP5 Gly488Glu G488E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF471 Ile21Met I21M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.617 - - -1 - 1 N - - ZNF132 Ala323Ser A323S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SNTG2 Arg258Trp R258W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - MYT1L GluGlu166Del EE166Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNASEH1P1 Ser96Ile S96I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC043361 Ser101Pro S101P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GREB1 Arg973Gln R973Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3762579 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ITSN2 Met8Val M8V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF53 Leu91Phe L91F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF23 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM179A Ser840Thr S840T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CAPN14 Phe198Leu F198L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XDH Asn1109Thr N1109T not reviewed Insufficiently evaluated not reviewed unknown Array rs45547640 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.748 Y - 1 - 2 N - - QPCT Glu327Lys E327K not reviewed Insufficiently evaluated not reviewed unknown Array rs34476437 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - COX7A2L Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -4 - 2 N - - FSHR Leu8Phe L8F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ASB3 Arg362Cys R362C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - AK124553 Arg154His R154H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANTXR1 Pro543Thr P543T not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LONRF2 Ser315Pro S315P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IL1RL2 Val353Leu V353L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL1RL1 Ala80Val A80V not reviewed Insufficiently evaluated not reviewed unknown Array rs34210856 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - IL1RL1 Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array rs34225180 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MERTK Val469Phe V469F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 3 - 1 N - - MGAT5 Asp549Glu D549E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - LY75 Ala599Thr A599T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - SCN7A Ser1503Phe S1503F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 2 N - - XIRP2 Pro252Ser P252S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9774 0.000204624 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Ile1223Thr I1223T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9448 0.000211685 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Gly1839Asp G1839D not reviewed Insufficiently evaluated not reviewed unknown Array 2 9592 0.000208507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - XIRP2 Tyr3150Cys Y3150C not reviewed Insufficiently evaluated not reviewed unknown Array rs3749003 2 9654 0.000207168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GAD1 Thr27Lys T27K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - DNAH7 Pro3414Arg P3414R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - BC118982 Arg130Gln R130Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - AB058746 Gln1616Arg Q1616R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN1 Val1587Met V1587M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLB1L Val358Ala V358A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 2 - 0 N - - IRS1 Pro1079Ser P1079S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 3 - 0 N - - IRS1 Asn480Lys N480K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - 1 - 1 N - - SPHKAP Ser781Asn S781N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - AF451986 Arg114His R114H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NDUFA10 Arg261Lys R261K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - BOK Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10510 0.000285442 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - BC101234 Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28590502 1 38 0.0263158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATRN Cys597Tyr C597Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FERMT1 Val543Met V543M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.675 Y - 0 - 2 N - - SEC23B Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - C20ORF78 Val28Ile V28I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF26 Arg202His R202H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NECAB3 Met393Val M393V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - CEP250 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.15 - - 1 - 0 N - - C20ORF132 Lys791Asn K791N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SRSF6 Phe22Ser F22S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - PIGT Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - STAU1 Pro388Thr P388T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - C20ORF106 GlnTyr37ProCys QY37PC not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP4R1L Gly172Asp G172D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTK6 Ala402Asp A402D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_001037335 Thr1904Met T1904M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10550 0.00028436 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - MYT1 Ser1019Leu S1019L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TPTE Asp112Asn D112N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NRIP1 Tyr362Cys Y362C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2CD2 Leu599Gln L599Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ICOSLG Ala206Thr A206T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10702 0.00140161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF29 Leu568Val L568V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-1 Met246Val M246V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-6 Leu307Phe L307F not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 0 - 2 N - - MCM3AP Gln842Glu Q842E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.839 - - -2 - 1 N - - BC065749 His157Tyr H157Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -1 - 0 N - - ADORA2A Arg300His R300H not reviewed Insufficiently evaluated not reviewed unknown Array rs4990 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CARD10 Arg927Trp R927W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - TRIOBP Ala1523Thr A1523T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9794 0.000102103 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CYP2D6 Val408Ile V408I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10732 0.000279537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EFCAB6 Val1257Met V1257M not reviewed Insufficiently evaluated not reviewed unknown Array rs61995891 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBGCP6 Pro1762Leu P1762L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10316 9.6936e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - HDAC10 Thr12Met T12M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.165 - - 2 - 0 N - - FGD5 Glu700Met E700M not reviewed Insufficiently evaluated not reviewed unknown Array rs2307092 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CMTM8 Ser26Arg S26R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ARPP21 Gly691Cys G691C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - CCR8 Gln321Glu Q321E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ENTPD3 Asn287Asp N287D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - KBTBD5 Lys291Thr K291T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - PTPN23 Glu830Asp E830D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - USP4 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - IFRD2 Glu79Asp E79D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - DNAH1 Arg1663Cys R1663C not reviewed Insufficiently evaluated not reviewed unknown Array rs17052097 10 10608 0.000942684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NISCH Arg930His R930H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF49 Met276Ile M276I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAMTS9 Val1408Ile V1408I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SUCLG2 Arg160Gln R160Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9588 0.000104297 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ZPLD1 Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCET2 Gln61His Q61H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - -1 - 1 N - - WDR52 Ser57Leu S57L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - FBXO40 Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - KALRN Pro2255Thr P2255T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALG1L Ile52Arg I52R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - MCM2 Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - ZIC4 Ser322Leu S322L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10170 0.000294985 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - ARL14 Val49Met V49M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - SLC7A14 Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - YEATS2 Cys1232Phe C1232F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - YEATS2 Thr1341Ala T1341A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ABCF3 Arg687His R687H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 1 - 2 N - - ZFYVE28 Thr281Met T281M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - HGFAC Arg405Trp R405W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MSX1 Arg157Ser R157S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BOD1L Gly2361Ser G2361S not reviewed Insufficiently evaluated not reviewed unknown Array rs3822227 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AK308144 His168Gln H168Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - GBA3 Ile332Thr I332T not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLR1 Arg31Gly R31G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.748 - - 6 Y 1 N - - GABRG1 Arg428Thr R428T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TXK Gln212Arg Q212R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - SCFD2 Ala190Pro A190P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - PROL1 Leu63Phe L63F not reviewed Insufficiently evaluated not reviewed unknown Array 7 9884 0.000708215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENAM Arg843Ser R843S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HERC5 Cys302Ser C302S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BANK1 Phe315Leu F315L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SEC24B Ile698Val I698V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ALPK1 Ile197Thr I197T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 3 - 2 N - - PDE5A Ala103Gly A103G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX746903 Pro66Arg P66R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAT4 Val806Met V806M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - PCDH18 Ser646Tyr S646Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDH18 Glu430Gln E430Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRBA Val2393Ile V2393I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DCHS2 Arg110Trp R110W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 7 Y 2 N - - CR600059 Leu134Phe L134F not reviewed Insufficiently evaluated not reviewed unknown Array rs894281 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORBS2 Lys1113Del K1113Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAT1 Ser2353Ala S2353A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10482 0.000190803 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - PLEKHG4B Arg623Cys R623C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10612 9.4232e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 2 N - - BC113534 Arg35Lys R35K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MYO10 Thr367Ala T367A not reviewed Insufficiently evaluated not reviewed unknown Array 6 9986 0.000600841 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPEF2 Leu280Met L280M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.219 - - -3 - 1 N - - EMB Val275Met V275M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PARP8 Arg287His R287H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - HTR1A Pro16Leu P16L not reviewed Insufficiently evaluated not reviewed unknown Array rs1800041 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IQGAP2 Arg1379Trp R1379W not reviewed Insufficiently evaluated not reviewed unknown Array rs17681908 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR41 Asn70Lys N70K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - ARSK Thr223Ala T223A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 1 - 2 N - - SLCO4C1 Asn69Ser N69S not reviewed Insufficiently evaluated not reviewed unknown Array 408 10758 0.0379253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO6A1 Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - PCDHB15 Phe538Ser F538S not reviewed Insufficiently evaluated not reviewed unknown Array rs17844626 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAT2 Asp1654His D1654H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - G3BP1 Ser362Asn S362N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GABRB2 Arg354Cys R354C not reviewed Insufficiently evaluated not reviewed unknown Array rs41298406 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - HMMR Met181Val M181V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - RANBP17 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 1 - 1 N - - FAM193B Pro585Ser P585S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - B4GALT7 Arg141Trp R141W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MGAT4B Thr140Asn T140N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 1 - 0 N - - TBC1D9B Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SLC17A1 Phe288Cys F288C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PGBD1 Gly112Glu G112E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - C6ORF136 Thr43Ala T43A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSORS1C2 Gly51Ser G51S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233951 3 7422 0.000404203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSORS1C1 Gly15Ser G15S not reviewed Insufficiently evaluated not reviewed unknown Array 32 7524 0.00425306 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCHCR1 Gln575His Q575H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRRC2A Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C2 Pro73Leu P73L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BTNL2 Val61Met V61M not reviewed Insufficiently evaluated not reviewed unknown Array rs41457146 58 7524 0.00770866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB22 Glu624Lys E624K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAXX Glu457Del E457Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FGD2 Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - MDFI Asp219Pro D219P not reviewed Insufficiently evaluated not reviewed unknown Array 1 40 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CUL7 Ile1139Thr I1139T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 - Y 3 - 3 N - - FAM83B Leu401Arg L401R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - PM20D2 Lys333Glu K333E not reviewed Insufficiently evaluated not reviewed unknown Array rs10944433 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 0 - 0 N - - MMS22L Glu1111Lys E1111K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ASCC3 Val1330Ile V1330I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0408 Pro300Ser P300S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - NHSL1 Arg53His R53H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF103 Thr549Ser T549S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SASH1 Arg85Trp R85W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MTHFD1L Asp867Val D867V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 8 Y 1 N - - SLC22A2 Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 1 N - - DACT2 Thr192Asn T192N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 1 - 2 N - - SDK1 Arg809Cys R809C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - 8 Y 0 N - - SLC29A4 Gly317Ser G317S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10698 0.000467377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKMY2 Asp71Asn D71N not reviewed Insufficiently evaluated not reviewed unknown Array rs36104932 151 10758 0.0140361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 N - - GHRHR Val225Ile V225I not reviewed Insufficiently evaluated not reviewed unknown Array rs28371560 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STK17A Ile365Thr I365T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACAD Glu1259Val E1259V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDC14C Arg242Pro R242P not reviewed Insufficiently evaluated not reviewed unknown Array 2 90 0.0222222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RHBDD2 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array rs11547498 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.864 - - 1 - 2 N - - FZD1 Pro135His P135H not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - MTERF Arg291Ser R291S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 3 - 2 N - - TECPR1 Val226Ile V226I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10340 9.6711e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - BRI3 Arg66His R66H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - ARPC1A Gln238Arg Q238R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZCWPW1 Asp227Asn D227N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC17 Glu940Gly E940G not reviewed Insufficiently evaluated not reviewed unknown Array rs58478927 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC17 Ala941Val A941V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRWD1 Pro593Thr P593T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - COG5 Ser197Gly S197G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - LRRN3 Asp89Ala D89A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - IFRD1 Leu212Val L212V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRRT4 Ser724Thr S724T not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CALD1 Met317Ile M317I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBXAS1 Leu71Phe L71F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP12 Leu210Val L210V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - SLC37A3 Leu415Pro L415P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 7 Y 1 N - - FAM131B Asp236Asn D236N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACTR3B Met164Val M164V not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GIMAP1 Glu18Gly E18G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - MYOM2 Gly724Ser G724S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RP1L1 Gln1953Glu Q1953E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1967 Gly85Ala G85A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - CHMP7 Arg270Cys R270C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SCARA5 Arg96Leu R96L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.783 - - 6 Y 1 N - - FBXO16 Arg75Gln R75Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3735726 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - INTS9 Asn371Ser N371S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - INTS9 Ile227Met I227M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.248 - - -1 - 1 N - - GGH Lys196Glu K196E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - RGS22 Arg397Met R397M not reviewed Insufficiently evaluated not reviewed unknown Array rs2446927 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - NR_002304 Arg157Met R157M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZC3H3 Asp402Gly D402G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 4 Y 1 N - - KIFC2 Pro643Gln P643Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 30 0.0333333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 4 Y 0 N - - PPP1R16A Arg427Leu R427L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10730 9.3196e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.261 - - 6 Y 1 N - - LRRC14 Arg172Trp R172W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - C9ORF66 Pro240Ser P240S not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DMRT3 Ala164Thr A164T not reviewed Insufficiently evaluated not reviewed unknown Array rs10978001 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRD Ser1896Thr S1896T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - KLHL9 Cys465Tyr C465Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 6 Y 2 N - - ANXA2 Val210Ile V210I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UBAP2 Arg441Gln R441Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ARID3C Asp218Gly D218G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - MSMP Gly116Val G116V not reviewed Insufficiently evaluated not reviewed unknown Array rs3750436 7 9990 0.0007007 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.84 - - 8 Y 1 N - - MCART1 Cys107Ser C107S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - PRUNE2 Thr815Ile T815I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GKAP1 Val275Ile V275I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0368 Thr644Ser T644S not reviewed Insufficiently evaluated not reviewed unknown Array rs16916091 298 9740 0.0305955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AMBP Ala74Thr A74T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL27A1 Asp1356His D1356H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKNA Ala414Glu A414E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - ASTN2 Thr1134Ile T1134I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - ASTN2 Arg865His R865H not reviewed Insufficiently evaluated not reviewed unknown Array rs3818503 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.796 - - 1 - 1 N - - DOLPP1 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAPGEF1 Gly465Arg G465R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GFI1B Arg155Cys R155C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - OBP2B Thr163Ala T163A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 1 - 1 N - - C9ORF96 Pro608Leu P608L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF96 Leu631Pro L631P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTSL2 Gly702Ala G702A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y 1 - 3 N - - SARDH Glu37Lys E37K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 1 N - - KIAA0649 Arg1068Trp R1068W not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - SOHLH1 Thr303Ala T303A not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - 1 - 0 N - - EHMT1 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - IL3RA Arg84Gln R84Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - MBTPS2 Pro214Arg P214R not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CYBB Gly472Ser G472S not reviewed Insufficiently evaluated not reviewed unknown Array rs13306300 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 2 - 1 N - - EFHC2 Glu611Lys E611K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRIPAP1 Glu557Lys E557K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - GPKOW Lys299Arg K299R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - -3 - 0 N - - SHROOM4 Arg722His R722H not reviewed Insufficiently evaluated not reviewed unknown Array rs3761506 3 8761 0.000342426 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - OPHN1 Arg788Gln R788Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - PCDH19 Asn1087His N1087H not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ARMCX6 Gln116Arg Q116R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - KIAA1210 Arg8Leu R8L not reviewed Insufficiently evaluated not reviewed unknown Array 10 8126 0.00123062 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IDH3G Thr328Ile T328I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - SPRY3 His49Arg H49R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - 1 - 1 N - - H6PD Gly258Ser G258S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 Y Y 2 - 4 N - - EPHA2 Thr411Shift T411Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEC22B Arg158Stop R158X not reviewed Insufficiently evaluated not reviewed unknown Array rs3871984 267 10452 0.0255453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG Asn3534Cys N3534C not reviewed Insufficiently evaluated not reviewed unknown Array rs71582232 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Ala3485Val A3485V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 2 - 3 N - - FLG Gln2397Stop Q2397X not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - FLG Ser2169Gly S2169G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FLG Gly1953Cys G1953C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - ASPM Cys3034Tyr C3034Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SLC30A1 Lys479Shift K479Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USH2A Thr2781Ile T2781I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.83 Y Y 3 - 3 N - - MAPK8 Ser414Shift S414Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDH23 Ile1887Thr I1887T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TMEM80 Gln134Stop Q134X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HARBI1 Tyr136Shift Y136Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WNK1 Arg1945Cys R1945C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - AK056228 Arg72Stop R72X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRRK2 Asn238Ile N238I not reviewed Insufficiently evaluated not reviewed unknown Array rs28365216 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SACS Val3221Met V3221M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.74 Y Y 0 - 3 N - - TMEM229B Asp145Shift D145Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM229B Phe144Shift F144Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GALC Leu634Ser L634S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 6 Y 4 N - - SPATA7 Arg395Gln R395Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.284 Y Y 0 - 3 N - - PLA2G4D Gly744Shift G744Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEO1 Thr703Shift T703Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CREBBP Leu551Ile L551I not reviewed Insufficiently evaluated not reviewed unknown Array rs61753381 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y -2 - 3 N - - ESRP2 Gly275Shift G275Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Gly77Shift G77Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 26 0.153846 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT17 Val349Met V349M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - SCN4A Val428Leu V428L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.589 Y Y 0 - 3 N - - APOH Cys124Shift C124Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CARD14 Met752Shift M752Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FSCN2 Thr25Shift T25Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - C17ORF70 Arg664Shift R664Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OAZ1 Ala16Shift A16Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1A Glu995Val E995V not reviewed Insufficiently evaluated not reviewed unknown Array rs16023 4 80 0.05 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.125 Y Y 5 Y 2 N - - ZNF85 Ala378Shift A378Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BCAM Pro39Leu P39L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.922 Y - 7 Y 3 N - - PRKCG Asp603Gly D603G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y 4 Y 2 N - - ATP6V1B1 Glu309Gly E309G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MCEE Glu147Gly E147G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 6 Y 2 N - - NEB Ser6324Gly S6324G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NEB Lys2613Ser K2613S not reviewed Insufficiently evaluated not reviewed unknown Array rs13013209 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NEB Ala1804Glu A1804E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - XIRP2 Lys78Stop K78X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CIR1 Arg393Shift R393Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Thr29793Asn T29793N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NOP58 Arg525Shift R525Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNKD Arg368Trp R368W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - COL6A3 Thr98Ser T98S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PROCR Leu211Shift L211Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001008735 Val175Shift V175Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNQ2 Glu515Asp E515D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y Y -2 - 2 N - - RASL10A Lys17Shift K17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATXN10 Leu289Gln L289Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.339 Y Y 5 Y 3 N - - LMCD1 Lys217Shift K217Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAF1 Gln34Tyr Q34Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TGFBR2 Thr340Met T340M not reviewed Insufficiently evaluated not reviewed unknown Array rs34833812 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SCN5A Leu1988Arg L1988R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HLTF Lys454Shift K454Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WDR49 Ser608Shift S608Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRC31 Leu365Shift L365Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WFS1 Glu737Lys E737K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10702 0.00018688 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.045 Y Y 0 - 2 N - - SLC4A4 Gly424Asp G424D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y - 4 Y 1 N - - ITGA2 Gly793Arg G793R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.17 Y - 6 Y 1 N - - VCAN Gly1107Asp G1107D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.924 Y Y 4 Y 4 N - - GPR98 Ile4773Met I4773M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - APC Met1638Thr M1638T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.646 Y Y 2 - 3 N - - TCOF1 Ala948Ser A948S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NMUR2 Gln157Stop Q157X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF354C Asp549Shift D549Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RREB1 Gly1169Shift G1169Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DSP Arg866Ser R866S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - HLA-DQB1 Ser35Pro S35P not reviewed Insufficiently evaluated not reviewed unknown Array rs12722106 13 9906 0.00131234 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - HLA-DQB1 LeuLeu28ProVal LL28PV not reviewed Insufficiently evaluated not reviewed unknown Array rs1130366 10 64 0.15625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 2 N - - PKHD1 Glu1161Gly E1161G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CD109 Tyr1261Shift Y1261Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH11 Thr800Shift T800Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 3 N - - CCM2 Ser289Asn S289N not reviewed Insufficiently evaluated not reviewed unknown Array rs2289366 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.208 Y Y 0 - 3 N - - KCNH2 Thr895Met T895M not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - 0.867 Y Y 2 - 4 N - - NR_003671 Asp24Shift D24Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VPS13B Gly1127Trp G1127W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 7 Y 4 N - - GDA Glu52Shift E52Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ROR2 Ala586Thr A586T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - OR13C4 Tyr259Stop Y259X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DAB2IP Gln942Shift Q942Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTF1 MetGlu429LysLys ME429KK not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - OFD1 Gly842Arg G842R not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.237 Y Y 6 Y 3 N - - DMD Arg1978His R1978H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Leu235Ile L235I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.697 Y Y -2 - 3 N - - FOXP3 Gly52Val G52V not reviewed Insufficiently evaluated not reviewed unknown Array rs17847095 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.161 Y Y 8 Y 2 N - - AVPR2 Gly12Glu G12E not reviewed Insufficiently evaluated not reviewed unknown Array rs2071126 157 8191 0.0191674 3 0 5 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 6 Y 2 N - - MECP2 Gly244Ala G244A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748422 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLNA Asn931Asp N931D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.675 Y Y -1 - 3 N - - C1ORF159 Arg169Gln R169Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATAD3A Ala344Val A344V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CHD5 Asp401Glu D401E not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CASZ1 Val378Ile V378I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -4 - 1 N - - PADI4 Thr10Asn T10N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - ARHGEF10L Ala1199Thr A1199T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AKR7A2 Ala62Thr A62T not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH2D5 Pro18His P18H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HSPG2 Asp68Glu D68E not reviewed Insufficiently evaluated not reviewed unknown Array rs1869780 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ZBTB40 Ala791Val A791V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - CCDC21 Ala547Thr A547T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP3K6 Gly1064Ala G1064A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL16A1 Pro669Ser P669S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC23 Val16Gly V16G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - RAD54L Lys151Glu K151E not reviewed Insufficiently evaluated not reviewed unknown Array rs2295466 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MKNK1 Arg35Gln R35Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NRD1 Met939Ile M939I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCSK9 Val4Ile V4I not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -4 - 1 N - - IL12RB2 Asn271Tyr N271Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - 5 Y 1 N - - PTGFR Lys313Arg K313R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IFI44 Met323Val M323V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - SORT1 Ser115Phe S115F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.613 - - 5 Y 1 N - - GSTM1 Asn48Asp N48D not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - AP4B1 Ile734Val I734V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SYT6 Arg239Cys R239C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDE4DIP Arg1289Gln R1289Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - ITGA10 Arg712Cys R712C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CA14 Thr251Lys T251K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 3 - 2 N - - CGN Arg593Gln R593Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SNX27 Met258Val M258V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 0 - 1 N - - HRNR Cys804Ser C804S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPRR3 Thr156Met T156M not reviewed Insufficiently evaluated not reviewed unknown Array rs2075740 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 2 - 2 N - - SLC27A3 Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM189B Arg646His R646H not reviewed Insufficiently evaluated not reviewed unknown Array rs2072648 2 10558 0.000189429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM189B Pro396Leu P396L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10002 0.00059988 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP1A4 His13Gln H13Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - VANGL2 Val44Glu V44E not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - VANGL2 Ile428Val I428V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - -4 - 1 N - - SLAMF7 Thr302Met T302M not reviewed Insufficiently evaluated not reviewed unknown Array rs2295617 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - NR1I3 His246Arg H246R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYOC Thr256Met T256M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y - 2 - 3 N - - RFWD2 Arg295Thr R295T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 3 - 1 N - - LAMC1 Glu1537Lys E1537K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - PTPRC Ser1283Arg S1283R not reviewed Insufficiently evaluated not reviewed unknown Array rs2298872 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 3 - 1 N - - C1ORF106 Arg237His R237H not reviewed Insufficiently evaluated not reviewed unknown Array 3 9130 0.000328587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD34 Val75Leu V75L not reviewed Insufficiently evaluated not reviewed unknown Array rs35359362 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 0 - 0 N - - NM_001104548 Pro26Leu P26L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9610 0.000104058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001104548 Arg50Gln R50Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9804 0.000101999 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPS6KC1 Asn575Ser N575S not reviewed Insufficiently evaluated not reviewed unknown Array rs56060894 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - EPRS Met195Ile M195I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.342 - - -1 - 1 N - - OBSCN Ala1086Ser A1086S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10122 9.8794e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.666 - - -1 - 1 N - - NID1 Gly504Arg G504R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.8 - - 6 Y 1 N - - FMN2 Gly441Asp G441D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SDCCAG8 Thr398Met T398M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - 2 - 0 N - - AHCTF1 Glu1488Del E1488Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2T11 Cys138Phe C138F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 4 Y 2 N - - OR2T35 Ala317Met A317M not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADARB2 Val466Ala V466A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 2 - 0 N - - USP6NL Thr665Ile T665I not reviewed Insufficiently evaluated not reviewed unknown Array rs3740203 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CUBN Ser1936Asn S1936N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MAP3K8 His385Tyr H385Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - ANUBL1 Glu551Asp E551D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -2 - 2 N - - RBP3 Arg530Ser R530S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - FRMPD2 Ala716Thr A716T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - BC047597 Cys107Arg C107R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ANK3 Asn4272Lys N4272K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYPN Pro1102Leu P1102L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - C10ORF35 Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CBARA1 Leu270Arg L270R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - OIT3 Asn111His N111H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 0 - 1 N - - ANXA7 Arg441Gln R441Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3750575 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNMA1 Val470Ile V470I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DLG5 Arg890His R890H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - LIPA Thr337Ala T337A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.895 Y - 1 - 3 N - - BTAF1 Thr812Ala T812A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - C10ORF12 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXL4 Pro598Arg P598R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - DPCD Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.733 - - 0 - 1 N - - GBF1 Val1721Ile V1721I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -4 - 1 N - - SFXN2 Pro238Leu P238L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CALHM1 Arg333Gln R333Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 0 - 0 N - - CCDC147 Arg736His R736H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 1 - 0 N - - ADD3 Val260Ile V260I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PNLIPRP1 Ala271Val A271V not reviewed Insufficiently evaluated not reviewed unknown Array rs2305205 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - DMBT1 Arg670Cys R670C not reviewed Insufficiently evaluated not reviewed unknown Array rs2277237 5 10006 0.0004997 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DMBT1 Pro794Leu P794L not reviewed Insufficiently evaluated not reviewed unknown Array 18 9996 0.00180072 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DMBT1 Arg1968Gln R1968Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10220 9.7847e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - MKI67 Thr1797Met T1797M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 2 - 2 N - - PAOX Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3747879 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATHL1 Ala292Val A292V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001042376 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs13306444 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GVINP1 Arg543Gln R543Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSNK2A1 Ile272Val I272V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAV2 His367Asn H367N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAV2 Arg912Gln R912Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC4C Gln34His Q34H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - -1 - 2 N - - ALKBH3 Arg164Cys R164C not reviewed Insufficiently evaluated not reviewed unknown Array rs2271815 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - CD82 Arg132Leu R132L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 6 Y 1 N - - OR10V1 Leu55Pro L55P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - TMEM132A Gly940Asp G940D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPLP0P2 Ser148Phe S148F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK Val2272Ile V2272I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - AHNAK Arg92Cys R92C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - TTC9C Asn143Ser N143S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 0 - 2 N - - ANKRD13D Ala431Gly A431G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - SSH3 Thr247Met T247M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ACER3 His120Tyr H120Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ODZ4 Asp772Asn D772N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10194 0.000392387 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - -1 - 2 N - - CCDC81 Glu159Del E159Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM49 Asn298Ser N298S not reviewed Insufficiently evaluated not reviewed unknown Array rs672762 1063 10546 0.100797 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - KIAA1377 Pro912Thr P912T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - KIAA1826 Asn206Asp N206D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - C11ORF87 Phe58Ser F58S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FDXACB1 Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array 140 9818 0.0142595 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.328 - - -4 - 1 N - - BUD13 Arg181His R181H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 0 N - - PHLDB1 Arg422His R422H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - C11ORF63 Lys208Glu K208E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR8B3 Ile47Thr I47T not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8B4 Leu304Arg L304R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 6 Y 1 N - - TBRG1 Ala69Pro A69P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - CDON Gln814His Q814H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - NFRKB Pro927Arg P927R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SNX19 Arg872Cys R872C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.518 - - 8 Y 1 N - - GPR162 Pro525Del P525Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPL13P5 Trp27Arg W27R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC073935 Gly38Glu G38E not reviewed Insufficiently evaluated not reviewed unknown Array 1 26 0.0384615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC073935 His26Arg H26R not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3C2G Glu1260Asp E1260D not reviewed Insufficiently evaluated not reviewed unknown Array rs17847807 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLCO1B3 Ile196Val I196V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - -4 - 0 N - - PPFIBP1 Asp437Gly D437G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IPO8 Lys315Thr K315T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 3 - 2 N - - C12ORF40 Asp512Tyr D512Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS20 Arg653Ser R653S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLL2 Val4639Met V4639M not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPD1 Ile284Val I284V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - POU6F1 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT72 Asn242Ser N242S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - HOXC11 Pro130Ser P130S not reviewed Insufficiently evaluated not reviewed unknown Array rs34652380 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ZFC3H1 Asp1299Glu D1299E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - LRRIQ1 Asn718Lys N718K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DAO Ala62Thr A62T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF34 Ala279Thr A279T not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPL6 Thr278Met T278M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.538 - - 2 - 1 N - - CIT Gly429Ser G429S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - CABP1 His206Arg H206R not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR109A Ile156Val I156V not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.909 - - -4 - 2 N - - C12ORF65 Gly69Ser G69S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001083900 Gly659Val G659V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TPTE2 Ser282Val S282V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MTMR6 Ala414Asp A414D not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 5 Y 1 N - - MTUS2 Val13Ile V13I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FRY Asp2643Asn D2643N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC122 Thr206Ala T206A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - CCDC122 Ala38Thr A38T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYSLTR2 Phe36Leu F36L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ZIC5 Ala110Glu A110E not reviewed Insufficiently evaluated not reviewed unknown Array 3 88 0.0340909 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMTC4 His6Arg H6R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MCF2L His370Glu H370E not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POTEG Arg217Gln R217Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2818587 4 38 0.105263 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR4Q3 Gln160His Q160H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PARP2 Arg290Trp R290W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10042 0.000199163 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - SLC39A2 His150Arg H150R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DQ341465 Gly81Arg G81R not reviewed Insufficiently evaluated not reviewed unknown Array rs34740210 4 10346 0.000386622 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HAUS4 Arg363His R363H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - BC153822 Arg57His R57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYH6 Phe231Leu F231L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - ZFHX2 Thr988Asn T988N not reviewed Insufficiently evaluated not reviewed unknown Array rs74039343 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - ADCY4 Met244Ile M244I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -1 - 0 N - - MDGA2 Gln591His Q591H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9798 0.000204123 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - -1 - 1 N - - KIAA0586 Thr940Ala T940A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DAAM1 Ser807Asn S807N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - 0 - 1 N - - SYNE2 Cys5815Tyr C5815Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.214 - - 6 Y 1 N - - ZFP36L1 Pro244Arg P244R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.516 - - 5 Y 1 N - - ADAM21 Ile315Met I315M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.083 - - -1 - 0 N - - FAM161B Leu622Pro L622P not reviewed Insufficiently evaluated not reviewed unknown Array rs17094077 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SERPINA3 Ile308Thr I308T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - AK7 Glu533Lys E533K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SLC25A47 Ser57Trp S57W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - AHNAK2 Ser4485Pro S4485P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - AHNAK2 Glu1085Gln E1085Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 9674 0.0010337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - C15ORF52 Ile245Met I245M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MGA Asp2957Asn D2957N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EHD4 Asp516Asn D516N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - PLA2G4E Gln146Arg Q146R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SNAP23 Met44Thr M44T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - STARD9 Pro510Leu P510L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STARD9 Arg2252Trp R2252W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TGM5 Thr109Met T109M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ATP8B4 Leu946Pro L946P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - UNC13C Tyr760Asn Y760N not reviewed Insufficiently evaluated not reviewed unknown Array 2 9838 0.000203293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - RFX7 Ala336Val A336V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCNB2 Val135Ile V135I not reviewed Insufficiently evaluated not reviewed unknown Array rs2306785 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.066 - - -4 - 0 N - - GCNT3 Arg338Cys R338C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LCTL Glu133Gly E133G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 6 Y 0 N - - NM_024776 Thr1063Ser T1063S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C15ORF42 Lys523Glu K523E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF774 Thr439Ala T439A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB11FIP3 Pro142Ala P142A not reviewed Insufficiently evaluated not reviewed unknown Array 49 10242 0.00478422 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TPSD1 Glu84Gly E84G not reviewed Insufficiently evaluated not reviewed unknown Array rs3993986 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT140 Thr258Ser T258S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RPS2 Val282Met V282M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ABCA3 Leu654Val L654V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.942 Y - 0 - 3 N - - NTN3 Arg100Trp R100W not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.412 - - 7 Y 1 N - - SRRM2 Ala125Val A125V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRRM2 Thr2357Asn T2357N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - BC148245 Val118Met V118M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROGDI Glu59Lys E59K not reviewed Insufficiently evaluated not reviewed unknown Array rs2305659 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 0 - 1 N - - SEC14L5 Gly561Ser G561S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GDE1 Arg218Gln R218Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2072086 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACSM2B Trp120Arg W120R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ACSM3 Asp270His D270H not reviewed Insufficiently evaluated not reviewed unknown Array rs13306603 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - VWA3A Arg401Trp R401W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK127191 Arg97Lys R97K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NM_018690 Thr628Arg T628R not reviewed Insufficiently evaluated not reviewed unknown Array rs13306186 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - ATP2A1 Arg403Trp R403W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - 7 Y 0 N - - SRCAP Pro131Ala P131A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXL19 Ala346Asp A346D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC12A3 Thr180Lys T180K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CES3 Phe466Cys F466C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - MTSS1L Leu310Ser L310S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PHLPP2 Asp1320His D1320H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.673 - - 3 - 1 N - - LDHD Glu426Lys E426K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0182 Arg1153Gln R1153Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2303203 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ZNF469 Gly3415Val G3415V not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ANKRD11 Ala2020Thr A2020T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - 1 - 0 N - - DPEP1 Ala155Lys A155K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF276 Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10754 0.00139483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC160930 Val73Ala V73A not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GLOD4 Met279Ile M279I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR81 Gln644Glu Q644E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CYB5D2 Trp179Arg W179R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PELP1 AlaLeuProPro985Del ALPP985Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPAG7 Arg123His R123H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TEKT1 Gln292Lys Q292K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - DVL2 Met399Val M399V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.49 - - 0 - 1 N - - DNAH2 Lys1836Arg K1836R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - -3 - 1 N - - DNAH2 Glu3097Asp E3097D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - -2 - 1 N - - PER1 Arg568Trp R568W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 7 Y 2 N - - HS3ST3A1 Ala85Ser A85S not reviewed Insufficiently evaluated not reviewed unknown Array rs60532842 16 3366 0.00475342 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - SMCR7 Gly440Ala G440A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - TBC1D28 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC144NL Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - SLC13A2 Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array rs45443898 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - ANKRD13B Ala608Thr A608T not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRLF3 Arg111Gln R111Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.244 - - 0 - 1 N - - SLFN13 Met332Ile M332I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.326 - - -1 - 1 N - - CCL14 Ser25Phe S25F not reviewed Insufficiently evaluated not reviewed unknown Array 299 10758 0.0277933 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 5 Y 2 N - - MYO19 Ser158Phe S158F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 5 Y 1 N - - ACACA Arg1346Gly R1346G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - MLLT6 Met205Ile M205I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDK12 Ser29Lys S29K not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP1-1 Pro12Arg P12R not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 5 Y 2 N - - C17ORF65 Pro4Arg P4R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LPO Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array rs8178338 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACE Asp353Asn D353N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.943 Y - -1 - 3 N - - CPSF4L Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM104 Thr92Ala T92A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OTOP2 Thr394Ile T394I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - 3 - 1 N - - ACOX1 Gly25Ser G25S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.9 Y - 2 - 3 N - - CCDC40 Val490Leu V490L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RNF213 Asp627Glu D627E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NPTX1 Ile414Val I414V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PYCR1 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FASN Val1937Ile V1937I not reviewed Insufficiently evaluated not reviewed unknown Array rs17848945 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FASN Ile1113Val I1113V not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0802 Ala391Val A391V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - KIAA0802 Arg791Trp R791W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0802 Ser1472Pro S1472P not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP192 Ser448Phe S448F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - CDH2 Ala118Thr A118T not reviewed Insufficiently evaluated not reviewed unknown Array rs17445840 487 10758 0.0452686 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC68 Lys220Arg K220R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - -3 - 1 N - - SERPINB8 Phe29Ser F29S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDH19 Ala155Ser A155S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - -1 - 1 N - - POLRMT Ser96Asn S96N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - APC2 Ala829Val A829V not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCF7L1 Ala109Ser A109S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP8B3 Val1276Ala V1276A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DOT1L Ala1475Thr A1475T not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFR2 Glu858Lys E858K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - XAB2 Thr706Met T706M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 2 - 1 N - - BC150497 Arg67Cys R67C not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2Z1 Ser188Phe S188F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - MUC16 Leu14450Ile L14450I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNMT1 Gly860Arg G860R not reviewed Insufficiently evaluated not reviewed unknown Array rs62621087 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 6 Y 0 N - - DOCK6 Ile1171Thr I1171T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLF1 Pro109Ser P109S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - OR7C2 Phe94Ser F94S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - CYP4F3 Ala474Thr A474T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - KIAA1683 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array rs3810431 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SUGP2 Thr844Met T844M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - ZNF429 Thr435Ile T435I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF99 Lys428Asn K428N not reviewed Insufficiently evaluated not reviewed unknown Array 2 76 0.0263158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.711 - - 1 - 1 N - - THAP8 Ser105Leu S105L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9776 0.000102291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 6 Y 0 N - - ZNF565 Lys174Arg K174R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.188 - - -3 - 0 N - - ZNF829 Pro34Arg P34R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITPKC Pro410Ser P410S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 3 - 0 N - - PAFAH1B3 Arg198His R198H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.272 - - 1 - 1 N - - ZNF284 Cys292Ser C292S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - PLEKHA4 Arg628His R628H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 2 N - - BAX Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - MYH14 Thr934Met T934M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ASPDH Arg42Cys R42C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KLK9 Arg22Cys R22C not reviewed Insufficiently evaluated not reviewed unknown Array 45 10744 0.00418838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ZNF578 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF578 Arg23Cys R23C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LILRA1 Thr40Pro T40P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - NLRP8 Pro130Thr P130T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - NLRP8 Arg526Lys R526K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - -3 - 2 N - - ZNF530 Tyr379Phe Y379F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -4 - 0 N - - ZNF551 Ala62Val A62V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF274 Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM110C Pro162His P162H not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 0 N - - WDR35 Tyr937Cys Y937C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - APOB Pro955Ser P955S not reviewed Insufficiently evaluated not reviewed unknown Array rs13306206 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - AL834515 Leu197Val L197V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF84 Pro63Ser P63S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF16 Arg357Gly R357G not reviewed Insufficiently evaluated not reviewed unknown Array rs17006143 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STRN Arg196Thr R196T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - AX747384 Ile68Val I68V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC1A4 Gly57Ser G57S not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - 2 - 2 N - - ETAA1 Met192Thr M192T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10544 9.484e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - ETAA1 Asp453His D453H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 3 - 0 N - - FBXO41 Ala225Gly A225G not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUSP11 Tyr289Ser Y289S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DQX1 Ile455Thr I455T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQX1 Leu298Pro L298P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 7 Y 2 N - - IL1RL1 Ala231Thr A231T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPS9 Glu362Lys E362K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLASP1 Thr1225Asn T1225N not reviewed Insufficiently evaluated not reviewed unknown Array 4 9922 0.000403144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN18 Met193Val M193V not reviewed Insufficiently evaluated not reviewed unknown Array rs3739124 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_002826 Thr267Ile T267I not reviewed Insufficiently evaluated not reviewed unknown Array rs3888998 3 66 0.0454545 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TUBA3D Ser236Pro S236P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX746496 Arg102Pro R102P not reviewed Insufficiently evaluated not reviewed unknown Array 3 84 0.0357143 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - YSK4 Gly1015Glu G1015E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 6 Y 0 N - - YSK4 Arg696Cys R696C not reviewed Insufficiently evaluated not reviewed unknown Array rs56211316 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - METTL8 Ser355Asn S355N not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYBRD1 Phe9Leu F9L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TTC30B Ala258Thr A258T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - SGOL2 Ile916Met I916M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9360 0.000106837 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - -1 - 1 N - - BC118982 Pro36Gln P36Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - GPBAR1 Val240Met V240M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OBSL1 Arg1280Gln R1280Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOGAT1 Asn249Ser N249S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - ITM2C Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TMC2 Ile270Val I270V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - TMC2 Met283Val M283V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NM_014731 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - LRRN4 Arg454Ser R454S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF12 Gly361Ser G361S not reviewed Insufficiently evaluated not reviewed unknown Array 32 9676 0.00330715 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF3 Pro102Leu P102L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ENTPD6 Glu133Lys E133K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - NINL Ala928Thr A928T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - FAM83C Pro36Leu P36L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9174 0.000109003 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - C20ORF118 Gly102Arg G102R not reviewed Insufficiently evaluated not reviewed unknown Array rs3748460 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BPI Pro461Leu P461L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPRT Phe1426Leu F1426L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - L3MBTL1 Leu722Val L722V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736753 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLTP Val203Met V203M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229453 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - ADNP Asp928His D928H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - ZNF831 Ala1037Asp A1037D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 5 Y 1 N - - OGFR Lys492Arg K492R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - -3 - 1 N - - MYT1 Glu265Asp E265D not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.543 - - -2 - 1 N - - MYT1 Glu273GluGlu E273EE not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001013729 Arg10Cys R10C not reviewed Insufficiently evaluated not reviewed unknown Array rs56361760 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP19-7 Gly12Asp G12D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP10-6 Cys130Ser C130S not reviewed Insufficiently evaluated not reviewed unknown Array rs1209013 265 10416 0.0254416 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-6 Cys124Tyr C124Y not reviewed Insufficiently evaluated not reviewed unknown Array 85 10334 0.00822528 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL17RA Val219Leu V219L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 0 - 0 N - - ARVCF Pro859Ser P859S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC7A4 Gly111Asp G111D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - C22ORF43 Glu201Asp E201D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10138 9.8638e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SEZ6L Ile461Val I461V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - CRYBB1 Arg230His R230H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MPST Ala283Thr A283T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - 1 - 1 N - - IL2RB Thr476Met T476M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.422 - - 2 - 1 N - - DDX17 Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHF21B Gly510Arg G510R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.743 - - 6 Y 1 N - - TTLL8 Arg556His R556H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EDEM1 Asp296Asn D296N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL17RC Ser56Asn S56N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - CRELD1 Leu139Gln L139Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 - - 5 Y 2 N - - NM_001008737 Leu116Phe L116F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP210 Gly1134Arg G1134R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.576 - - 6 Y 1 N - - GRIP2 Val656Met V656M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CX3CR1 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array rs3732380 3 10370 0.000289296 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - -4 - 0 N - - ZNF621 Ile99Val I99V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VIPR1 Arg445Leu R445L not reviewed Insufficiently evaluated not reviewed unknown Array rs3733055 1 10302 9.7068e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - SCAP Phe1015Leu F1015L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 0 - 2 N - - PLXNB1 Gly899Arg G899R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10598 0.000283072 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 6 Y 1 N - - DAG1 Leu54Val L54V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC146674 Thr62Ser T62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - DNAH12 Phe332Leu F332L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAT1 Arg121Ser R121S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 3 - 2 N - - BOC Pro451Thr P451T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ARHGAP31 Pro787Ser P787S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - C3ORF1 Glu60Asp E60D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - POLQ Val2554Ile V2554I not reviewed Insufficiently evaluated not reviewed unknown Array rs3772119 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEMA5B Thr168Met T168M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCY5 Gln875Arg Q875R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROPN1 Arg64Trp R64W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF25 Arg338Cys R338C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10502 9.5219e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AMOTL2 Leu437Gln L437Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 88 0.0568182 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 0 N - - CEP63 Asp440Glu D440E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - TRIM42 Arg97His R97H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10624 9.4126e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SMC4 Lys854Glu K854E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NMD3 Ile191Met I191M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP13 Leu118Ile L118I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - DGKG Arg296His R296H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Ala800Val A800V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10658 9.3826e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNK2 Arg162Trp R162W not reviewed Insufficiently evaluated not reviewed unknown Array rs3747673 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRCH3 Asn239Asp N239D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.565 - - -1 - 1 N - - ZNF718 Pro450Arg P450R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM193A Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 1 N - - KIAA0232 Arg328Trp R328W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC96 Ser527Phe S527F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 5 Y 1 N - - BOD1L Val2183Phe V2183F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - ZCCHC4 Leu46Phe L46F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - WDR19 Arg1178Gln R1178Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10218 9.7866e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - GABRG1 Thr48Met T48M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRYL Asn2283Ser N2283S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9440 0.000105932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - UGT2B10 Arg520Gly R520G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - ADAMTS3 Met1085Val M1085V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFM Thr404Ser T404S not reviewed Insufficiently evaluated not reviewed unknown Array rs2276444 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - -2 - 1 N - - FRAS1 Glu1435Gln E1435Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - NPNT Arg543His R543H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC109B Arg183Gln R183Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALPK1 Pro660Leu P660L not reviewed Insufficiently evaluated not reviewed unknown Array rs35389530 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 1 N - - NDST4 Arg739Thr R739T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - MYOZ2 Gln10Pro Q10P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - TRPC3 Ile164Val I164V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBC1D9 Asn1045Ser N1045S not reviewed Insufficiently evaluated not reviewed unknown Array rs60628862 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - PRMT10 Val777Ile V777I not reviewed Insufficiently evaluated not reviewed unknown Array 58 10752 0.00539435 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DCHS2 His2633Tyr H2633Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61741046 447 10758 0.0415505 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - DCHS2 Cys47Arg C47R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - ACCN5 Thr119Pro T119P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - PPID Arg49Cys R49C not reviewed Insufficiently evaluated not reviewed unknown Array rs2070631 323 10756 0.0300297 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.277 - - 8 Y 1 N - - ODZ1 Arg1668Gln R1668Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAT1 Ala4529Val A4529V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - ZDHHC11 Lys104Arg K104R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -3 - 0 N - - TAS2R1 Ile27Thr I27T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - UGT3A1 Met500Thr M500T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FYB Ser125Tyr S125Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35384751 8 9786 0.000817494 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C7 Cys128Arg C128R not reviewed Insufficiently evaluated not reviewed unknown Array rs2271708 56 10026 0.00558548 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - C6 Thr327Met T327M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXO4 Ser8Arg S8R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231917 2 7074 0.000282725 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGA1 Glu321Asp E321D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.515 - - -2 - 1 N - - MAST4 Ser1871Del S1871Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAM Lys370Thr K370T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNFAIP8 Met99Leu M99L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.431 - - -3 - 1 N - - FTMT Asp151Gly D151G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - CCNI2 Ser228Phe S228F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - FSTL4 Arg810Leu R810L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 6 Y 1 N - - CATSPER3 Met337Ile M337I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - -1 - 2 N - - KIF20A Glu78Lys E78K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - PCDHB18 Asn27Asp N27D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - NR3C1 Asn242Ser N242S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPARGC1B Arg893Gln R893Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF62 Trp20Cys W20C not reviewed Insufficiently evaluated not reviewed unknown Array 6 7518 0.000798084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SFXN1 Val130Ile V130I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDHR2 Val948Met V948M not reviewed Insufficiently evaluated not reviewed unknown Array rs3749625 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LMAN2 Ile287Val I287V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DBN1 Ile282Ser I282S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CANX Leu140Met L140M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SERPINB6 Gly153Ser G153S not reviewed Insufficiently evaluated not reviewed unknown Array rs2295766 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - TDP2 Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17249952 216 10758 0.0200781 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM65B Ser326Pro S326P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CMAH Arg121Ser R121S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 1 1 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - This is a pseudogene; variants are of no consequence. HLA-A ValAsp100GluAsn VD100EN not reviewed Insufficiently evaluated not reviewed unknown Array rs1071742 8 86 0.0930233 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RNF39 Gln391Arg Q391R not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4B Leu1120Pro L1120P not reviewed Insufficiently evaluated not reviewed unknown Array rs2734319 2 102 0.0196078 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4B Ser1121Cys S1121C not reviewed Insufficiently evaluated not reviewed unknown Array rs2734318 2 104 0.0192308 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4B Ile1124Leu I1124L not reviewed Insufficiently evaluated not reviewed unknown Array rs2229399 2 102 0.0196078 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C4B His1125Asp H1125D not reviewed Insufficiently evaluated not reviewed unknown Array rs2229400 2 102 0.0196078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4B Ala1286Ser A1286S not reviewed Insufficiently evaluated not reviewed unknown Array rs9501603 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIF6 Arg656His R656H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PRPH2 Ala116Ser A116S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -1 - 1 N - - CUL7 Glu1357Lys E1357K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.096 - Y 0 - 1 N - - CUL7 Arg1027Cys R1027C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 8 Y 1 N - - CUL9 Ser725Leu S725L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - GSTA1 Gln145Lys Q145K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - LRRC1 Gln280Glu Q280E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - IMPG1 Gln367Arg Q367R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CYB5R4 Gln15Leu Q15L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - AK124171 Glu223Del E223Del not reviewed Insufficiently evaluated not reviewed unknown Array 19 82 0.231707 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - UTRN Ile2505Val I2505V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TIAM2 Thr541Met T541M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - SYNJ2 Ser984Arg S984R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - SYTL3 Val472Ile V472I not reviewed Insufficiently evaluated not reviewed unknown Array rs2291388 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UNC93A Tyr387His Y387H not reviewed Insufficiently evaluated not reviewed unknown Array rs663227 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - C6ORF120 Gly117Ala G117A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHST12 Ala286Pro A286P not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - KIAA0415 Pro695Thr P695T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - RADIL Arg242Gln R242Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNRC18 Phe1910Leu F1910L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - FBXL18 Ala102Pro A102P not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.673 - - 2 - 1 N - - ZNF815 Val174Ile V174I not reviewed Insufficiently evaluated not reviewed unknown Array rs308083 4 108 0.037037 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH11 His1721Arg H1721R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - BC087859 Asn269Ser N269S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX56 Tyr249Cys Y249C not reviewed Insufficiently evaluated not reviewed unknown Array rs41279639 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 6 Y 0 N - - ABCA13 Val2878Met V2878M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF107 Cys638Arg C638R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TRIM50 Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - HIP1 Arg508Gln R508Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - SAMD9L Tyr705Cys Y705C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - MUC17 Ser1652Leu S1652L not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC17 Val1662Met V1662M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Ile1663Val I1663V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC17 Thr1666Asn T1666N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC032716 Ala90Gly A90G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TES Ala221Val A221V not reviewed Insufficiently evaluated not reviewed unknown Array rs2272193 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM28 Gln502Lys Q502K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CPA1 Ala341Thr A341T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZC3HAV1 Ile574Val I574V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBXAS1 Val295Met V295M not reviewed Insufficiently evaluated not reviewed unknown Array rs13306052 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6V1 Val140Ala V140A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - FAM115C Arg198Gln R198Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2306872 3 28 0.107143 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ATP6V0E2 Pro29Leu P29L not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ATG9B Gly749Ser G749S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733329 12 9912 0.00121065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUB1 Gln13Arg Q13R not reviewed Insufficiently evaluated not reviewed unknown Array rs2302131 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - PRKAG2 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.514 Y - 1 - 2 N - - RP1L1 Ile1085Met I1085M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM86B1 Leu96Pro L96P not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DLC1 Lys223Glu K223E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB11FIP1 Val576Ala V576A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.219 - - 2 - 1 N - - SLCO5A1 Pro776Ser P776S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - 3 - 1 N - - JPH1 Thr520Met T520M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFAND1 His96Arg H96R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ODF1 AsnProCysSerProCysAsnProCys219Del NPCSPCNPC219Del not reviewed Insufficiently evaluated not reviewed unknown Array 32 92 0.347826 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MTBP Glu12Lys E12K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - FAM91A1 Pro188His P188H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ADCY8 Arg772Gln R772Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.356 - - 0 - 1 N - - SCRIB Asp1023Asn D1023N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - SCRIB Ala440Val A440V not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - PLEC Thr4080Asn T4080N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala2022Thr A2022T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10216 9.7885e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0020 Arg480Gln R480Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2270889 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ERMP1 Lys440Asn K440N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MPDZ Gly1663Arg G1663R not reviewed Insufficiently evaluated not reviewed unknown Array rs2274648 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MPDZ Lys1291Met K1291M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCIN Asn132Ser N132S not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 0 - 1 N - - FOXD4L5 Cys258Arg C258R not reviewed Insufficiently evaluated not reviewed unknown Array rs3000495 5 166 0.0301205 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VPS13A Pro2602Leu P2602L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 7 Y 1 N - - C9ORF174 Gly898Arg G898R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF174 Asp1518Asn D1518N not reviewed Insufficiently evaluated not reviewed unknown Array rs2306093 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR13F1 Phe28Ser F28S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - OR13C4 Asn317Lys N317K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC44A1 Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZNF462 Thr496Met T496M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF618 Asp752Ala D752A not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNFSF15 Phe110Leu F110L not reviewed Insufficiently evaluated not reviewed unknown Array rs16931745 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDK5RAP2 Ser1578Leu S1578L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - GGTA1 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - Y 0 - 2 N - - RABGAP1 Lys526Arg K526R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SNAPC4 Pro1144Thr P1144T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.407 - - 4 Y 1 N - - NOTCH1 Arg1279His R1279H not reviewed Insufficiently evaluated not reviewed unknown Array rs61751543 168 10472 0.0160428 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - BC018860 Asp21Asn D21N not reviewed Insufficiently evaluated not reviewed unknown Array rs1970771 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP6 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRPR TrpLeu277CysPhe WL277CF not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAB3 Lys593Glu K593E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM47A GluThr193ArgPro ET193RP not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PPP1R2P9 Asp108Tyr D108Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 7 Y 2 N - - SPIN2A Thr234Ala T234A not reviewed Insufficiently evaluated not reviewed unknown Array rs363926 4 8750 0.000457142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - HEPH Leu908Val L908V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - KIF4A Ala491Val A491V not reviewed Insufficiently evaluated not reviewed unknown Array rs2297871 8 8761 0.000913137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CXORF26 Ser73Ala S73A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HDX Pro345Leu P345L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - KIAA1210 Pro1304Ser P1304S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 3 - 1 N - - BCORL1 Ser878Gly S878G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NM_001126492 Thr39Ile T39I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AFF2 Ala245Thr A245T not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CASQ2 Asp383Del D383Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ACTN2 Tyr286Stop Y286X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - KCNK18 Tyr121Shift Y121Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KNDC1 Ser634Shift S634Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CALY Ala188Shift A188Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 40 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEX12 Arg107Shift R107Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SIK3 Met584Shift M584Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATN1 Ser392SerAla S392SA not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ATN1 Ser394Ala S394A not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -1 - 2 N - - TAS2R50 Ser10Shift S10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLIP1 Cys1411Shift C1411Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 Pro2290Gln P2290Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SCFD1 Gly215Shift G215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C14ORF48 Lys34Stop K34X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPTBN5 Gln37Stop Q37X not reviewed Insufficiently evaluated not reviewed unknown Array rs2271286 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PLDN Lys138Shift K138Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RANBP10 Ala570Shift A570Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF469 Gly1120Shift G1120Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 66 0.0454545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF52 Leu145Shift L145Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746631 Leu33Shift L33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF493 His483Shift H483Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RYR1 Ala2557Asp A2557D not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 5 Y 4 N - - CEACAM20 Pro529Shift P529Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBLC Arg50Shift R50Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - MATN3 Val220Ala V220A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 2 - 4 N - - EHBP1 Asn344Shift N344Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Ser3536Asn S3536N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BC118982 Thr254Shift T254Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARL4C Leu108Shift L108Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR6B2 Leu307Shift L307Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C3ORF48 Met240Shift M240Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746903 Pro113Shift P113Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11344214 2 14 0.142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPBP1 His321Shift H321Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ERAP2 Asp613Shift D613Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-H Lys197Asn K197N not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - C6ORF10 Ser227Shift S227Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA0240 Tyr458Shift Y458Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LCA5 Asp652Val D652V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.928 Y Y 8 Y 4 N - - CD36 Tyr409Shift Y409Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - CACNA2D1 Ala924Shift A924Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX747124 Cys61Shift C61Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM135B Val1088Shift V1088Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TONSL Gly868Shift G868Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAMTSL1 Glu1729Shift E1729Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RG9MTD3 Glu88Shift E88Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMC2 Asn782Shift N782Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF41 Ser22Leu S22L not reviewed Insufficiently evaluated not reviewed unknown Array 2 8744 0.000228728 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - CCNL2 Pro480Ser P480S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATAD3B Phe274Tyr F274Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10738 9.3127e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - CROCC Ala2006Pro A2006P not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CNKSR1 Pro350Gln P350Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2297710 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COL16A1 Ala1274Thr A1274T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10032 0.000299043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MED8 Gly273Ser G273S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYDE2 Val188Ile V188I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_014839 Ala18Ser A18S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - BC034233 Pro44Arg P44R not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CAPZA1 Asn44Ser N44S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SLC22A15 Gly67Val G67V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - BCL9 Gln1185Pro Q1185P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR598521 Cys42Arg C42R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CEP350 Gln2887Glu Q2887E not reviewed Insufficiently evaluated not reviewed unknown Array rs58130305 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -2 - 0 N - - C1ORF26 Ile67Val I67V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OBSCN Arg7682Cys R7682C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10058 0.000397693 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.838 - - 8 Y 1 N - - NM_032435 Gly725Arg G725R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 6 Y 1 N - - ITIH5 Thr570Arg T570R not reviewed Insufficiently evaluated not reviewed unknown Array rs61273324 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CUBN Pro2164Ser P2164S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - DMBT1 ValSer834AlaPro VS834AP not reviewed Insufficiently evaluated not reviewed unknown Array rs11499281 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF92 Trp823Arg W823R not reviewed Insufficiently evaluated not reviewed unknown Array 2 90 0.0222222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF92 Ala304Thr A304T not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Asp887Asn D887N not reviewed Insufficiently evaluated not reviewed unknown Array rs58887459 2 10492 0.000190621 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC5AC Asp5732Asn D5732N not reviewed Insufficiently evaluated not reviewed unknown Array rs55741856 4 10214 0.000391619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR51A2 Pro227Leu P227L not reviewed Insufficiently evaluated not reviewed unknown Array rs2442425 2 108 0.0185185 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AB290171 Thr1412Ser T1412S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AB290171 Asp2123Asn D2123N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4C45 Val112Leu V112L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747192 Ser269Pro S269P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHB1 Met221Thr M221T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - KIAA1731 Ile529Thr I529T not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - TREH Met360Thr M360T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_015899 Ser204Asn S204N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - MLL2 Gly1323Asp G1323D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ESYT1 Ser838Trp S838W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - CR613142 Lys147Asn K147N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C12ORF28 Ala118Ser A118S not reviewed Insufficiently evaluated not reviewed unknown Array rs11177991 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NBEA Pro1531Thr P1531T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EDDM3A Gly62Cys G62C not reviewed Insufficiently evaluated not reviewed unknown Array rs34552133 988 10758 0.0918386 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.354 - - 7 Y 0 N - - LRP10 Arg48Trp R48W not reviewed Insufficiently evaluated not reviewed unknown Array rs2273837 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 7 Y 2 N - - RALGAPA1 Val710Ala V710A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR89 Arg77Lys R77K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - INF2 Arg660Trp R660W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Ser2666Phe S2666F not reviewed Insufficiently evaluated not reviewed unknown Array rs57308399 2 10152 0.000197005 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 5 Y 1 N - - AHNAK2 Ala1940Val A1940V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Glu1464Asp E1464D not reviewed Insufficiently evaluated not reviewed unknown Array 366 7920 0.0462121 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -2 - 0 N - - AHNAK2 Asp988Asn D988N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10138 9.8638e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - -1 - 1 N - - AHNAK2 Pro747Thr P747T not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - AHNAK2 Gln726His Q726H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9940 0.000100603 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - OR4N4 Tyr73Cys Y73C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NM_001080841 Ile78Thr I78T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STARD9 Ser598Phe S598F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CA12 Gly299AspLeuHisLeuLysSerVal G299DLHLKSV not reviewed Insufficiently evaluated not reviewed unknown Array rs57752703 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND4A Val192Ala V192A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 2 - 2 N - - GOLGA6B Val351Ala V351A not reviewed Insufficiently evaluated not reviewed unknown Array 2 30 0.0666667 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CACNA1H Gln250Pro Q250P not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - CRAMP1L Ala278Thr A278T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HS3ST6 Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC9A3R2 Val256Ile V256I not reviewed Insufficiently evaluated not reviewed unknown Array rs57148397 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C16ORF59 Gln311Arg Q311R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NTN3 HisCys444ProSer HC444PS not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C16ORF90 Pro42Leu P42L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_018690 Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD26P1 Glu297Lys E297K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF469 Pro1741Leu P1741L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - BC089450 Pro161Leu P161L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EFNB3 Val228Met V228M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 0 - 1 N - - USP43 Cys641Phe C641F not reviewed Insufficiently evaluated not reviewed unknown Array rs60430206 9 10292 0.000874465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - MYH13 Met1692Ile M1692I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - MYO15A Ser2905Thr S2905T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - B9D1 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SARM1 Glu429Lys E429K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LASP1 Lys17Thr K17T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - NM_175882 Gly497Val G497V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SDK2 Thr1094Ser T1094S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYOM1 Ser557Leu S557L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TXNDC2 Ala254Thr A254T not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF29 Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001001520 Pro285Ser P285S not reviewed Insufficiently evaluated not reviewed unknown Array rs2288931 1 9724 0.000102838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001001520 Arg359His R359H not reviewed Insufficiently evaluated not reviewed unknown Array rs60970496 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Gln12317Lys Q12317K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAVER1 Pro474Thr P474T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC105 Pro7Ala P7A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF486 His424Tyr H424Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF257 Cys517Arg C517R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF492 Gly231Asp G231D not reviewed Insufficiently evaluated not reviewed unknown Array rs4100180 128 8848 0.0144665 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 4 Y 2 N - - ZNF99 Leu1021Phe L1021F not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF99 Asn1019Lys N1019K not reviewed Insufficiently evaluated not reviewed unknown Array 2 108 0.0185185 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.799 - - 1 - 1 N - - DMKN Ser285Asn S285N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ETV2 Leu28Val L28V not reviewed Insufficiently evaluated not reviewed unknown Array rs2285418 185 10756 0.0171997 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD177 Ser414Cys S414C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEACAM16 Ser239Phe S239F not reviewed Insufficiently evaluated not reviewed unknown Array rs59028589 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - ZNF541 Thr295Met T295M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TPRX1 ProIle206LeuIleProGlyProIleSerGlyProIleSerGlyProAsn PI206LIPGPISGPISGPN not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYBPC2 Ala1129Val A1129V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTU1 Pro346Ser P346S not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF841 Ser577Asn S577N not reviewed Insufficiently evaluated not reviewed unknown Array rs72483950 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 0 - 0 N - - ZNF83 His271Ser H271S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF816 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NLRP4 Ala324Gly A324G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - ZNF749 Val759Met V759M not reviewed Insufficiently evaluated not reviewed unknown Array rs56989300 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP36L2 Ser492Phe S492F not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD39 Gln23Glu Q23E not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - NPAS2 Ser814Cys S814C not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CNTNAP5 Gly904Val G904V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 8 Y 1 N - - SCN7A Asn538Ser N538S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9508 0.000105174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC132926 Cys69Gly C69G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TFPI Leu198Met L198M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ISM1 Gln126Glu Q126E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - AX746683 Gly89Ser G89S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001037335 Arg584Gln R584Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61446440 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.591 - - 0 - 1 N - - MYT1 GluGluGluGluGlu302Del EEEEE302Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TPTE Ala362Thr A362T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CECR2 Arg502His R502H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DGCR6L Val115Leu V115L not reviewed Insufficiently evaluated not reviewed unknown Array rs1056818 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM198A Val262Leu V262L not reviewed Insufficiently evaluated not reviewed unknown Array rs57546482 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BSN AlaGly711AspArg AG711DR not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL17RD Val14Gly V14G not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 8 Y 0 N - - ROPN1B Ser45Pro S45P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 3 - 0 N - - COL6A6 Ala2230Ser A2230S not reviewed Insufficiently evaluated not reviewed unknown Array rs57569308 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PHC3 Ser695Gly S695G not reviewed Insufficiently evaluated not reviewed unknown Array 4 9924 0.000403063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCLD Gly859Glu G859E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 6 Y 2 N - - NAALADL2 Ser466Gly S466G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MAML3 Gly1107Arg G1107R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC14B Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYO10 Met662Val M662V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C7 Arg521His R521H not reviewed Insufficiently evaluated not reviewed unknown Array 2 9786 0.000204373 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - F2R Pro29Thr P29T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 4 Y 2 N - - PCDHB2 Leu493Pro L493P not reviewed Insufficiently evaluated not reviewed unknown Array rs17844375 195 10744 0.0181497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 7 Y 2 N - - PCDHB5 Ser464Asn S464N not reviewed Insufficiently evaluated not reviewed unknown Array rs17844422 197 10750 0.0183256 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - HMGXB3 Ser143Ile S143I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF454 Asp78Asn D78N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-A Ile312Val I312V not reviewed Insufficiently evaluated not reviewed unknown Array rs41554316 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - REV3L Arg3029Gln R3029Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.332 - - 0 - 1 N - - TRDN Gly516Ala G516A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF192 Pro182Thr P182T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1244 Thr491Ala T491A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - T Val358Ile V358I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10716 0.000653228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNRC18 Arg1465Gln R1465Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59807577 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CCZ1 Met367Ile M367I not reviewed Insufficiently evaluated not reviewed unknown Array rs62441800 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THSD7A Pro1163Thr P1163T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - DGKB Val795Ile V795I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9546 0.000209511 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001126493 Asp13Asn D13N not reviewed Insufficiently evaluated not reviewed unknown Array rs59344650 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM200A Phe438Leu F438L not reviewed Insufficiently evaluated not reviewed unknown Array rs61580792 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - AGFG2 Gly38Ala G38A not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZAN Asp2231Asn D2231N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UBN2 Met319Val M319V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM115C Tyr207Cys Y207C not reviewed Insufficiently evaluated not reviewed unknown Array 2 50 0.04 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF767 Gln38Arg Q38R not reviewed Insufficiently evaluated not reviewed unknown Array rs1723719 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOS3 Arg388Trp R388W not reviewed Insufficiently evaluated not reviewed unknown Array rs61760657 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - ASB10 Thr161Ala T161A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ESYT2 Gly698Ser G698S not reviewed Insufficiently evaluated not reviewed unknown Array rs7792976 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLAT Asp292Gly D292G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 4 Y 2 N - - PTTG3P Asp108Asn D108N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.576 - - -1 - 1 N - - TTC35 Tyr195Cys Y195C not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 6 Y 0 N - - PKHD1L1 Thr2615Ile T2615I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PKHD1L1 Leu4225Val L4225V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - FREM1 Thr1474Ile T1474I not reviewed Insufficiently evaluated not reviewed unknown Array rs41265306 553 9772 0.0565903 9 0 9 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - KIF24 Ile357Val I357V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - OR13C2 Gly104Ser G104S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SVEP1 Arg1953Lys R1953K not reviewed Insufficiently evaluated not reviewed unknown Array rs17204832 3 10232 0.000293197 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - -3 - 1 N - - OR1L6 Arg176Trp R176W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - OLFML2A Glu542Ala E542A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 1 N - - C9ORF117 His429Tyr H429Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AL834139 Arg272Gln R272Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAMSAP1 Ser1204Asn S1204N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - ABCA2 Arg1228Cys R1228C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC093994 Glu159Gly E159G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HUWE1 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.789 - - 2 - 1 N - - DUSP9 Asp339Val D339V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 8 Y 2 N - - MTHFR Arg519Cys R519C not reviewed Insufficiently evaluated not reviewed unknown Array rs45496998 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.291 Y - 8 Y 2 N - - RHD Tyr269Stop Y269X not reviewed Insufficiently evaluated not reviewed unknown Array 152 9550 0.0159162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NSUN4 Arg209Stop R209X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DR1 Gln168Stop Q168X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AX747691 Leu88Shift L88Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHIA Glu169Stop E169X not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BCL9 Val502Shift V502Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR10Z1 Tyr153Stop Y153X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NPHS2 Pro54Leu P54L not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.237 Y - 7 Y 2 N - - ASPM Arg1264His R1264H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LYST Gly1764Ala G1764A not reviewed Insufficiently evaluated not reviewed unknown Array rs35413645 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 1 - 4 N - - ACTN2 Arg327His R327H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - MYO3A Pro548His P548H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 5 Y 1 N - - ERCC6 Gly1410Arg G1410R not reviewed Insufficiently evaluated not reviewed unknown Array rs4253229 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 6 Y 2 N - - PCDH15 Ala568Thr A568T not reviewed Insufficiently evaluated not reviewed unknown Array rs61730754 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.725 Y Y 1 - 3 N - - COX15 Pro110Leu P110L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.462 Y - 7 Y 2 N - - COL17A1 Asn948Lys N948K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KRTAP5-6 Cys127Stop C127X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CDKN1C Val291Phe V291F not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.889 Y Y 3 - 4 N - - OR52M1 Pro274Shift P274Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR51T1 Gln264Shift Q264Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR56A3 Met186Shift M186Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMPD1 Gly20Arg G20R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NLRP14 Lys313Shift K313Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USH1C Ala783Ser A783S not reviewed Insufficiently evaluated not reviewed unknown Array rs34077456 158 10758 0.0146867 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MRGPRX4 Leu220Shift L220Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61733599 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4C15 Ser277Shift S277Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72140406 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4C16 Met57Shift M57Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4D6 Arg233Shift R233Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - METTL12 Trp87Stop W87X not reviewed Insufficiently evaluated not reviewed unknown Array 12 10566 0.00113572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATM Pro604Ser P604S not reviewed Insufficiently evaluated not reviewed unknown Array rs2227922 44 10752 0.00409226 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ATM Glu699Gly E699G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CDON Thr1127Shift T1127Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDON Asn1125Shift N1125Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VWF Arg2464His R2464H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - VWF Asn1435Ser N1435S not reviewed Insufficiently evaluated not reviewed unknown Array rs11063987 370 10758 0.034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.118 Y Y 0 - 2 N - - NM_015899 Glu262Stop E262X not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DIP2B Glu675Shift E675Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITGA7 Gly610Val G610V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - CEP290 Ile1836Val I1836V not reviewed Insufficiently evaluated not reviewed unknown Array rs11104729 37 9320 0.00396996 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - CEP290 Glu277Gln E277Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45502896 125 8904 0.0140386 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y Y -2 - 4 N - - CLLU1 Asn41Shift N41Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG20 Phe231Tyr F231Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y -4 - 4 N - - CCDC122 Ser39Shift S39Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RB1 Met387Leu M387L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.322 Y Y -3 - 3 N - - DQ866763 Ser197Shift S197Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4N5 Tyr287Stop Y287X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TEP1 Arg608Trp R608W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - C14ORF183 Leu181Shift L181Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARID4A Glu301Shift E301Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746996 Cys114Shift C114Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Glu549Lys E549K not reviewed Insufficiently evaluated not reviewed unknown Array 11 9896 0.00111156 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - BLM Arg85Thr R85T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.023 Y Y 3 - 2 N - - BLM Glu140Gly E140G not reviewed Insufficiently evaluated not reviewed unknown Array rs35886055 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.885 Y Y 6 Y 4 N - - MYH11 Leu1324Ile L1324I not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ABCC6 Glu903Gln E903Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60712230 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ABCC6 Arg899Cys R899C not reviewed Insufficiently evaluated not reviewed unknown Array rs11861980 16 10758 0.00148726 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - UMOD Leu180Val L180V not reviewed Insufficiently evaluated not reviewed unknown Array 85 9998 0.0085017 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 4 N - - SCNN1B Arg388Cys R388C not reviewed Insufficiently evaluated not reviewed unknown Array rs61729788 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 8 Y 1 N - - SCNN1B Gly442Val G442V not reviewed Insufficiently evaluated not reviewed unknown Array rs1799980 489 10758 0.0454545 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 8 Y 1 N - - ZNF689 Ile167Shift I167Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC5A2 Pro602Leu P602L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746400 54 10754 0.00502139 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 7 Y 1 N - - COG8 Pro530Leu P530L not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - HYDIN Ile2115Shift I2115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JPH3 Gly638Ala G638A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 1 - 2 N - - FANCA His1417Gln H1417Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y -1 - 4 N - - CENPBD1 Glu35Shift E35Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAI1 Glu821Val E821V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 5 Y 2 N - - KRT38 Gln163Stop Q163X not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WNK4 Pro825Leu P825L not reviewed Insufficiently evaluated not reviewed unknown Array rs56226218 326 10758 0.030303 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 7 Y 3 N - - BRCA1 Ser1140Gly S1140G not reviewed Insufficiently evaluated not reviewed unknown Array rs2227945 125 10758 0.0116193 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 2 - 2 N - - GRN Arg19Trp R19W not reviewed Insufficiently evaluated not reviewed unknown Array rs63750723 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MAPT Arg544His R544H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10638 0.000470013 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MKS1 Ser502Leu S502L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.143 Y Y 6 Y 2 N - - COG1 Asp825Glu D825E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - MCART2 Asp67Shift D67Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOTCH3 Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - CYP4F3 Leu519Shift L519Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF257 Gln504Stop Q504X not reviewed Insufficiently evaluated not reviewed unknown Array 10 10484 0.000953834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HCST Ser61Trp S61W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.883 Y Y 7 Y 4 N - - ZNF790 Arg299Stop R299X not reviewed Insufficiently evaluated not reviewed unknown Array rs1227794 300 10758 0.0278862 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC042630 Lys89Stop K89X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ERCC1 Trp292Stop W292X not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 10 Y 3 N - - MYH14 Arg1386Trp R1386W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - PPP1R12C Ala521Shift A521Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYT1L Cys814Shift C814Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALK Arg259His R259H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 1 - 4 N - - LRPPRC Glu432Gly E432G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.614 Y - 6 Y 2 N - - CLEC4F Val25Shift V25Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35420638 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALMS1 Ser2027Pro S2027P not reviewed Insufficiently evaluated not reviewed unknown Array 7 9588 0.000730079 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ALMS1 Pro3802Ser P3802S not reviewed Insufficiently evaluated not reviewed unknown Array 12 9958 0.00120506 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - GNLY Trp4Stop W4X not reviewed Insufficiently evaluated not reviewed unknown Array rs10181739 309 10758 0.0287228 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GLI2 Ala268Val A268V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SCN9A Phe98Leu F98L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.881 Y Y 0 - 4 N - - TTN Val32600Met V32600M not reviewed Insufficiently evaluated not reviewed unknown Array rs55865284 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Thr29738Ile T29738I not reviewed Insufficiently evaluated not reviewed unknown Array rs56027402 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ile27196Leu I27196L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Arg25541Cys R25541C not reviewed Insufficiently evaluated not reviewed unknown Array rs56057221 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Val25109Ile V25109I not reviewed Insufficiently evaluated not reviewed unknown Array rs56309296 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Thr24885Lys T24885K not reviewed Insufficiently evaluated not reviewed unknown Array rs55933739 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ala24743Thr A24743T not reviewed Insufficiently evaluated not reviewed unknown Array rs56365600 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Glu12501Val E12501V not reviewed Insufficiently evaluated not reviewed unknown Array 165 9898 0.01667 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Ile2580Met I2580M not reviewed Insufficiently evaluated not reviewed unknown Array 53 10756 0.00492748 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL5A2 Arg1106Trp R1106W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10752 0.00130208 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL5A2 Gly1041Ser G1041S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL5A2 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 0 - 3 N - - DNAH7 Ser4024Shift S4024Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH7 Ile1481Shift I1481Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALS2 Arg602His R602H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9586 0.000104318 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BMPR2 Ala810Thr A810T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y 1 - 2 N - - NCOA3 Tyr813Shift Y813Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EDN3 Ala70Thr A70T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - COL18A1 Pro80Arg P80R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739237 198 10238 0.0193397 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - COL18A1 Arg439Leu R439L not reviewed Insufficiently evaluated not reviewed unknown Array rs62000965 6 126 0.047619 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - NF2 Ala585Thr A585T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AK098727 Cys126Shift C126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EP300 Ser916Thr S916T not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FLNB Thr1783Met T1783M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - IGSF10 Ser716Shift S716Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DLG1 Lys581Stop K581X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IDUA Gly116Arg G116R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HTT Thr1260Met T1260M not reviewed Insufficiently evaluated not reviewed unknown Array rs34315806 195 9778 0.0199427 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.159 Y Y 2 - 2 N - - EVC2 Leu31Pro L31P not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y - 7 Y 1 N - - WFS1 Cys537Tyr C537Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 6 Y 4 N - - DNAH5 Leu591Arg L591R not reviewed Insufficiently evaluated not reviewed unknown Array rs35090077 349 10758 0.032441 4 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DSP Gly939Ser G939S not reviewed Insufficiently evaluated not reviewed unknown Array 157 10756 0.0145965 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.075 Y Y 2 - 2 N - - DSP Arg1485Ser R1485S not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - NOL7 Gln239Shift Q239Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALDH5A1 Pro182Leu P182L not reviewed Insufficiently evaluated not reviewed unknown Array rs3765310 282 10758 0.026213 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MAS1L Ser190Shift S190Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HBS1L Gln194Shift Q194Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNE1 Val6212Ile V6212I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.535 Y Y -4 - 3 N - - SYNE1 Ser3255Leu S3255L not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.974 Y Y 6 Y 4 N - - SYNE1 Arg85Gln R85Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - COBL Phe1095Shift F1095Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC26A4 Phe354Ser F354S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 5 Y 4 N - - OR9A4 Thr42Shift T42Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCM1 Trp986Shift W986Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ESCO2 Asp116Asn D116N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -1 - 2 N - - SNX31 His268Shift H268Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NDRG1 Gly159Asp G159D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 4 Y 4 N - - RECQL4 Arg418Pro R418P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - NIPSNAP3A Arg96Stop R96X not reviewed Insufficiently evaluated not reviewed unknown Array rs34856872 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NUP188 Lys915Stop K915X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AL834139 Arg154Shift R154Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASS1 Glu256Lys E256K not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SETX Val891Ala V891A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SURF1 Arg295Cys R295C not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.806 Y - 8 Y 2 N - - COL5A1 Asp1803Asn D1803N not reviewed Insufficiently evaluated not reviewed unknown Array rs61729495 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GPR143 Met366Val M366V not reviewed Insufficiently evaluated not reviewed unknown Array rs34324958 77 8760 0.00878995 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DMD Glu1826Gln E1826Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 8754 0.0006854 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.884 Y Y -2 - 4 N - - CCNB3 Thr973Shift T973Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITIH5L Tyr267Stop Y267X not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TBX22 Tyr433Ser Y433S not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.252 Y - 5 Y 2 N - - WBP5 Arg96Stop R96X not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GLRA4 Arg13Stop R13X not reviewed Insufficiently evaluated not reviewed unknown Array rs61730416 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MRPL20 Arg29Lys R29K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.337 - - -3 - 1 N - - ATAD3C Glu376Ala E376A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - 3 - 1 N - - ATAD3A Ala622Val A622V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PANK4 Arg481Gln R481Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - KIAA0495 Pro120Leu P120L not reviewed Insufficiently evaluated not reviewed unknown Array rs35766062 142 9872 0.0143841 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC27 Pro284Ser P284S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - GPR153 Arg342His R342H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10732 0.00409989 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - PER3 Val419Met V419M not reviewed Insufficiently evaluated not reviewed unknown Array rs35426314 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MASP2 Asp415Asn D415N not reviewed Insufficiently evaluated not reviewed unknown Array rs61735593 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MASP2 Thr88Met T88M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735601 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBXO6 Arg225Gln R225Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.371 - - 0 - 1 N - - FHAD1 Val1068Ile V1068I not reviewed Insufficiently evaluated not reviewed unknown Array 22 3234 0.00680272 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - ATP13A2 Ala1144Thr A1144T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10318 0.00610583 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - PADI3 Arg60Gln R60Q not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.797 - - 0 - 1 N - - PADI3 Asp245Gly D245G not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PADI3 Thr286Ala T286A not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 1 - 2 N - - ARHGEF10L Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array 272 10700 0.0254206 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR7A3 His320Arg H320R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10752 0.0046503 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMCO4 Asn615Asp N615D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - CNR2 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61996280 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - 0 - 1 N - - MYOM3 Gly1231Glu G1231E not reviewed Insufficiently evaluated not reviewed unknown Array 4 9668 0.000413736 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - RHD Thr201Arg T201R not reviewed Insufficiently evaluated not reviewed unknown Array rs1053355 171 9722 0.017589 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - RHD Met218Ile M218I not reviewed Insufficiently evaluated not reviewed unknown Array 152 9728 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.802 - - -1 - 1 N - - RHD Phe223Val F223V not reviewed Insufficiently evaluated not reviewed unknown Array rs1053356 343 9748 0.0351867 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.118 - - 3 - 0 N - - RHD Ser225Phe S225F not reviewed Insufficiently evaluated not reviewed unknown Array 154 9736 0.0158176 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.462 - - 5 Y 1 N - - CNKSR1 Gln579Lys Q579K not reviewed Insufficiently evaluated not reviewed unknown Array 91 10756 0.00846039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTAFR Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10756 0.00539234 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.548 - - 1 - 1 N - - GJA4 Arg243Gln R243Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ZC3H12A Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34404723 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - EPHA10 Ser574Leu S574L not reviewed Insufficiently evaluated not reviewed unknown Array rs34409053 157 10316 0.0152191 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - EPHA10 Ala532Thr A532T not reviewed Insufficiently evaluated not reviewed unknown Array rs35063879 156 9694 0.0160924 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - MACF1 Lys394Glu K394E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Thr2152Ile T2152I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0754 Val526Ala V526A not reviewed Insufficiently evaluated not reviewed unknown Array 7 9582 0.000730536 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF220 Val414Ile V414I not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TOE1 Gly225Ser G225S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - GPBP1L1 Ala289Ser A289S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAST2 Arg1753Lys R1753K not reviewed Insufficiently evaluated not reviewed unknown Array rs9429089 10 10180 0.000982318 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -3 - 1 N - - STIL His527Arg H527R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.237 - Y 1 - 2 N - - OMA1 Met252Thr M252T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 2 N - - WDR78 Val753Ile V753I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C1ORF173 Asp1147His D1147H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIGK Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - LPAR3 Ala247Val A247V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - GBP3 Ile487Thr I487T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GBP3 Lys372Asn K372N not reviewed Insufficiently evaluated not reviewed unknown Array 35 10100 0.00346535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GBP3 Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BARHL2 Thr15Arg T15R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HFM1 Ala1036Thr A1036T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM69A Thr49Ala T49A not reviewed Insufficiently evaluated not reviewed unknown Array 38 9476 0.00401013 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - BCAR3 Cys561Gly C561G not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - AMY2B Gly319Arg G319R not reviewed Insufficiently evaluated not reviewed unknown Array rs72694412 257 10754 0.0238981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NTNG2 Arg431His R431H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AMPD2 Met669Thr M669T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CHIA Ala295Thr A295T not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHIA Trp301Arg W301R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - CHIA Gly317Glu G317E not reviewed Insufficiently evaluated not reviewed unknown Array 82 10756 0.00762365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDIA3P Ala112Gly A112G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SETDB1 Ala1021Val A1021V not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BNIPL Arg321His R321H not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - FLG2 Arg2207Gln R2207Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DCST2 Val27Met V27M not reviewed Insufficiently evaluated not reviewed unknown Array 243 10758 0.0225878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YY1AP1 Asn100Lys N100K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 1 - 1 N - - GON4L Arg1899Gln R1899Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - GON4L Val1227Met V1227M not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - GON4L Val1075Met V1075M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GON4L Val26Ile V26I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PEAR1 Asn476Asp N476D not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.066 - - -1 - 0 N - - ETV3L Pro130Arg P130R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735500 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SPTA1 Thr360Ser T360S not reviewed Insufficiently evaluated not reviewed unknown Array rs34133563 53 9758 0.00543144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR6N2 Pro182Leu P182L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ATP1A4 Leu1013Phe L1013F not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCRLB Thr79Ile T79I not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - SLC9A11 Thr1043Asn T1043N not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CACYBP Val15Leu V15L not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNN Val1130Met V1130M not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.773 - - 0 - 1 N - - ASTN1 Ile861Val I861V not reviewed Insufficiently evaluated not reviewed unknown Array rs61758729 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEC16B Asn1031Ser N1031S not reviewed Insufficiently evaluated not reviewed unknown Array 139 9704 0.014324 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - C1ORF49 Ala119Glu A119E not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQ584886 Arg44Ser R44S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRG4 Leu632Pro L632P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10724 0.000652741 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - TPR Leu865Phe L865F not reviewed Insufficiently evaluated not reviewed unknown Array rs35220098 40 9612 0.00416146 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF27 Val340Ile V340I not reviewed Insufficiently evaluated not reviewed unknown Array 46 9606 0.00478867 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NEK7 Met8Ile M8I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -1 - 2 N - - PTPRC Ser1137Phe S1137F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.722 - - 5 Y 1 N - - LMOD1 Gly142Asp G142D not reviewed Insufficiently evaluated not reviewed unknown Array rs35110687 163 9982 0.0163294 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ATP2B4 Asn616His N616H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - LAX1 Pro131Thr P131T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734426 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - MFSD4 Leu78Gln L78Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 5 Y 2 N - - IKBKE Asp532Tyr D532Y not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - NM_001104548 Ser24Ala S24A not reviewed Insufficiently evaluated not reviewed unknown Array 184 9626 0.0191149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CAMK1G Asn448Ser N448S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 0 - 0 N - - RPS6KC1 Gln444Leu Q444L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 5 Y 2 N - - CENPF Ile2524Val I2524V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EPRS Ala296Pro A296P not reviewed Insufficiently evaluated not reviewed unknown Array rs35999099 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OBSCN Arg4344Gln R4344Q not reviewed Insufficiently evaluated not reviewed unknown Array 288 10238 0.0281305 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - OBSCN Ala4484Thr A4484T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10434 0.00603795 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - OBSCN Val7580Met V7580M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730827 133 10488 0.0126812 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - NUP133 Pro461Leu P461L not reviewed Insufficiently evaluated not reviewed unknown Array rs35442997 118 10758 0.0109686 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - 7 Y 2 N - - KIAA1383 Ser59Pro S59P not reviewed Insufficiently evaluated not reviewed unknown Array 40 9734 0.00410931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_032435 Thr549Ala T549A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 1 - 1 N - - OR2T6 Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array rs6700947 541 10758 0.0502882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 0 N - - ANKRD16 Met62Val M62V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10736 0.00372578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NM_207423 Gly68Arg G68R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DHTKD1 Gln611Arg Q611R not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - 0 - 1 N - - DHTKD1 Asp707Glu D707E not reviewed Insufficiently evaluated not reviewed unknown Array rs35046964 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MCM10 Asp69Asn D69N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UCMA Glu71Val E71V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - FAM171A1 Arg556Gln R556Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - NEBL Arg613Gln R613Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIAA1217 Pro614His P614H not reviewed Insufficiently evaluated not reviewed unknown Array rs1112283 108 10758 0.010039 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.686 - - 5 Y 1 N - - PDSS1 Glu254Gln E254Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - -2 - 1 N - - SVIL Ser1414Thr S1414T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -2 - 2 N - - KIAA1462 Gln83Arg Q83R not reviewed Insufficiently evaluated not reviewed unknown Array 21 9838 0.00213458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - TMEM72 Ile54Thr I54T not reviewed Insufficiently evaluated not reviewed unknown Array 9 7820 0.0011509 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - GPRIN2 Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPYR1 Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - FAM21B Thr1110Pro T1110P not reviewed Insufficiently evaluated not reviewed unknown Array rs2669761 2 38 0.0526316 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ARHGAP22 Ser485Cys S485C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10248 0.00117096 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.343 - - 3 - 1 N - - WDFY4 Pro983Leu P983L not reviewed Insufficiently evaluated not reviewed unknown Array 37 3234 0.0114409 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDFY4 Met1734Thr M1734T not reviewed Insufficiently evaluated not reviewed unknown Array 34 3234 0.0105133 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDFY4 Ala2742Val A2742V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF71 Ala567Thr A567T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10038 0.00189281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASAH2 Thr32Ala T32A not reviewed Insufficiently evaluated not reviewed unknown Array rs7067625 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANK3 Ile2572Thr I2572T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732398 119 10758 0.0110615 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - JMJD1C Glu965Asp E965D not reviewed Insufficiently evaluated not reviewed unknown Array 5 9536 0.000524328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - JMJD1C Ser561Cys S561C not reviewed Insufficiently evaluated not reviewed unknown Array 31 9546 0.00324743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - JMJD1C Asn156Lys N156K not reviewed Insufficiently evaluated not reviewed unknown Array 10 9642 0.00103713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TSPAN15 Thr232Ala T232A not reviewed Insufficiently evaluated not reviewed unknown Array 236 10758 0.0219372 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - KIAA1274 Val309Ile V309I not reviewed Insufficiently evaluated not reviewed unknown Array rs61738654 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ECD Thr9Met T9M not reviewed Insufficiently evaluated not reviewed unknown Array rs34275727 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DYDC2 Val24Phe V24F not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - LRIT2 Ala447Pro A447P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LRIT2 Glu104Asp E104D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -2 - 0 N - - HECTD2 Asp172Gly D172G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.735 - - 4 Y 1 N - - CEP55 Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array rs62642532 67 10756 0.00622908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NDUFB8 Ser125Thr S125T not reviewed Insufficiently evaluated not reviewed unknown Array rs1802224 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -2 - 0 N - - PSD Arg1014Gln R1014Q not reviewed Insufficiently evaluated not reviewed unknown Array 26 10752 0.00241815 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - DCLRE1A Ala828Val A828V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BX647301 Ile101Thr I101T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEC23IP Ile793Val I793V not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - DMBT1 Arg2320Gln R2320Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 0 - 2 N - - FAM53B Pro203Leu P203L not reviewed Insufficiently evaluated not reviewed unknown Array rs41307542 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF90 His390Arg H390R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK310947 Glu299Lys E299K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF93 Arg223Cys R223C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR123 Gly72Arg G72R not reviewed Insufficiently evaluated not reviewed unknown Array 2 7762 0.000257665 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KNDC1 Arg752Cys R752C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10342 0.000290079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - MUC6 Pro1364Thr P1364T not reviewed Insufficiently evaluated not reviewed unknown Array 118 10678 0.0110508 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Arg941His R941H not reviewed Insufficiently evaluated not reviewed unknown Array rs41521548 39 10480 0.00372137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRPM5 Ala1143Pro A1143P not reviewed Insufficiently evaluated not reviewed unknown Array 16 10754 0.00148782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C11ORF36 Ala153Val A153V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHRNA10 Arg421Cys R421C not reviewed Insufficiently evaluated not reviewed unknown Array rs2231548 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - CHRNA10 Arg414His R414H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 1 - 2 N - - OR52I2 Ser106Leu S106L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - OR52I1 HisLeuPro169ProThr HLP169PT not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52B6 Ala136Thr A136T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNGA4 Gln503His Q503H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - AB290171 Arg276Cys R276C not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DCHS1 Val2920Met V2920M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10740 0.00391061 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 0 - 2 N - - NLRP14 Ser98Leu S98L not reviewed Insufficiently evaluated not reviewed unknown Array 270 10758 0.0250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NLRP14 Ser951Thr S951T not reviewed Insufficiently evaluated not reviewed unknown Array 273 10754 0.0253859 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - NLRP14 Leu954Ser L954S not reviewed Insufficiently evaluated not reviewed unknown Array 386 10756 0.0358869 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OVCH2 Lys60Arg K60R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - -3 - 2 N - - OR10A3 Asn172Ser N172S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - ZNF143 Val541Ala V541A not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 2 - 0 N - - SOX6 Pro449Gln P449Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 4 Y 0 N - - SERGEF His344Pro H344P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - NAV2 Pro57Arg P57R not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 5 Y 0 N - - PRR5L Gly311Ala G311A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - BC031305 Pro65Thr P65T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR617046 Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRP4 Arg610Cys R610C not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR4S1 Val7Ala V7A not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - 2 - 1 N - - OR4C45 Pro162Leu P162L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR4C15 Met151Leu M151L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR5L2 Ala300Val A300V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743566 118 10756 0.0109706 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - OR5B12 Cys141His C141H not reviewed Insufficiently evaluated not reviewed unknown Array rs11229457 20 128 0.15625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - CNTF Asn49Ser N49S not reviewed Insufficiently evaluated not reviewed unknown Array rs17152779 391 10758 0.036345 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - MS4A14 Pro610Leu P610L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - CD5 Arg410Cys R410C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - METTL12 His20Asp H20D not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747192 Ala187Ser A187S not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATG2A Leu1702Phe L1702F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10720 0.00027985 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - TIGD3 Ala329Thr A329T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10704 9.3423e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.5 - - 1 - 1 N - - MRPL21 Val186Ile V186I not reviewed Insufficiently evaluated not reviewed unknown Array rs35283923 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK131288 Arg106Cys R106C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - IL18BP Ser34Leu S34L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10510 0.000380589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRTOMT Ser162Arg S162R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 3 - 1 N - - UCP3 Asp164Asn D164N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - POLD3 Ser150Leu S150L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 6 Y 1 N - - POLD3 Thr311Ile T311I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 3 - 1 N - - XRRA1 Val521Met V521M not reviewed Insufficiently evaluated not reviewed unknown Array 123 10642 0.011558 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.28 - - 0 - 1 N - - TSKU Leu228Met L228M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.951 - - -3 - 2 N - - B3GNT1 Glu59Lys E59K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OMP Thr81Pro T81P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 4 Y 2 N - - C11ORF67 Leu107Phe L107F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP35 Pro559Leu P559L not reviewed Insufficiently evaluated not reviewed unknown Array 44 9846 0.00446882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCF11 Gly839Ser G839S not reviewed Insufficiently evaluated not reviewed unknown Array 237 9810 0.024159 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 2 N - - NOX4 Ser560Arg S560R not reviewed Insufficiently evaluated not reviewed unknown Array 2 80 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - C11ORF54 Ile262Thr I262T not reviewed Insufficiently evaluated not reviewed unknown Array 228 10758 0.0211935 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1377 Ser418Arg S418R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - DDI1 Arg87Cys R87C not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.613 - - 8 Y 1 N - - C11ORF92 Ala26Val A26V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIDT2 Ser184Leu S184L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.427 - - 6 Y 1 N - - PCSK7 Asn468Ser N468S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729982 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRX1 Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - USP2 Arg289Gln R289Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.274 - - 0 - 1 N - - USP2 Arg154Trp R154W not reviewed Insufficiently evaluated not reviewed unknown Array rs35957161 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.534 - - 7 Y 1 N - - C11ORF63 Thr555Met T555M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR8D4 Ala125Ser A125S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745074 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - OR8A1 Val317Met V317M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST3GAL4 Asn284Lys N284K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRDM10 Ser1018Thr S1018T not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC6A13 Ala586Thr A586T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738753 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KDM5A Pro328Leu P328L not reviewed Insufficiently evaluated not reviewed unknown Array 14 9874 0.00141787 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAD52 Gln221Glu Q221E not reviewed Insufficiently evaluated not reviewed unknown Array rs4987206 117 10348 0.0113065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ERC1 Ile629Val I629V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.314 - - -4 - 1 N - - GALNT8 Thr38Met T38M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NANOGP1 Gln110Leu Q110L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CLEC2D Arg101Lys R101K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.182 - - -3 - 0 N - - CLEC7A Ile223Ser I223S not reviewed Insufficiently evaluated not reviewed unknown Array rs16910527 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - ITPR2 Lys101Arg K101R not reviewed Insufficiently evaluated not reviewed unknown Array 15 9452 0.00158697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - DNM1L Ala550Asp A550D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - ALG10 Ile76Ser I76S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - ADAMTS20 His1422Tyr H1422Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34139852 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAMTS20 Asn1004Ser N1004S not reviewed Insufficiently evaluated not reviewed unknown Array rs35875054 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCNT1 Gly611Cys G611C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TROAP Pro506Ser P506S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRT75 Ile319Asn I319N not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KRT75 Glu242Gly E242G not reviewed Insufficiently evaluated not reviewed unknown Array rs2232393 102 10758 0.00948132 1 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KRT75 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - KRT74 Thr503Ala T503A not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRT78 Arg414Cys R414C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRT78 Arg7Gln R7Q not reviewed Insufficiently evaluated not reviewed unknown Array 108 10740 0.0100559 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - ESPL1 Ile1136Val I1136V not reviewed Insufficiently evaluated not reviewed unknown Array rs34130634 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ESPL1 Thr1157Ala T1157A not reviewed Insufficiently evaluated not reviewed unknown Array rs35428211 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR9K2 Gly137Glu G137E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 6 Y 2 N - - HSD17B6 Leu246Phe L246F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPY19L2 Ser750Asn S750N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - PTPRR Glu611Lys E611K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - C12ORF26 Trp446Leu W446L not reviewed Insufficiently evaluated not reviewed unknown Array 263 10758 0.0244469 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMTC2 Tyr616Cys Y616C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.627 - - 6 Y 1 N - - TMTC2 Asp746Gly D746G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - LRRIQ1 Ile1422Met I1422M not reviewed Insufficiently evaluated not reviewed unknown Array rs61740224 62 9428 0.00657616 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEKHG7 Ser93Thr S93T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.056 - - -2 - 0 N - - PLXNC1 Arg543Trp R543W not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.65 - - 7 Y 1 N - - METAP2 Glu6Gly E6G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - IKBIP Gln122His Q122H not reviewed Insufficiently evaluated not reviewed unknown Array rs12322444 344 10758 0.0319762 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UHRF1BP1L Thr1034Ile T1034I not reviewed Insufficiently evaluated not reviewed unknown Array 104 10754 0.00967082 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - STAB2 Asp178Asn D178N not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - TRPV4 Ile157Thr I157T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.438 Y - 3 - 2 N - - MLXIP Ile839Ser I839S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10542 0.00474293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - CLIP1 Ala202Pro A202P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - GPR81 Trp140Arg W140R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NCOR2 Glu1984Asp E1984D not reviewed Insufficiently evaluated not reviewed unknown Array rs2230943 124 9162 0.0135342 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EP400NL Gln460Leu Q460L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 1 N - - AK096230 Ala49Val A49V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TPTE2 Ser434Trp S434W not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - MPHOSPH8 Arg389Gly R389G not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - PARP4 His404Tyr H404Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LNX2 Ser196Phe S196F not reviewed Insufficiently evaluated not reviewed unknown Array rs61753155 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - SLC7A1 Ile508Val I508V not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC146965 Lys89Asn K89N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.916 - - 1 - 2 N - - FREM2 Asn1048Ser N1048S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - KIAA0564 Ile443Leu I443L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLF5 Leu219Ile L219I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.683 - - -2 - 1 N - - TBC1D4 Gln1057Glu Q1057E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - MYCBP2 Glu3175Del E3175Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UGGT2 Val35Leu V35L not reviewed Insufficiently evaluated not reviewed unknown Array rs35573057 9 10118 0.000889503 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 1 N - - F7 Arg364Gln R364Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.603 Y - 0 - 2 N - - ATP4B Ala166Val A166V not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DQ866763 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR4N5 Thr288Met T288M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TM9SF1 Leu420Val L420V not reviewed Insufficiently evaluated not reviewed unknown Array rs2234112 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - HEATR5A Ala1086Ser A1086S not reviewed Insufficiently evaluated not reviewed unknown Array 37 9556 0.00387191 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - BAZ1A Arg1358His R1358H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - RALGAPA1 Arg765Cys R765C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PNN Ser375Gly S375G not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - NIN Glu225Lys E225K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NID2 Asp765Asn D765N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - DLGAP5 Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - KTN1 Gln655Arg Q655R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10742 0.00111711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - C14ORF101 Ala646Thr A646T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNE2 Val5289Met V5289M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Leu5310Ser L5310S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.251 - - 6 Y 1 N - - SLC10A1 Ile279Thr I279T not reviewed Insufficiently evaluated not reviewed unknown Array rs72547507 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.069 - - 3 - 0 N - - SLC10A1 Ile195Leu I195L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCNX Thr2052Asn T2052N not reviewed Insufficiently evaluated not reviewed unknown Array rs28444741 88 10758 0.00817996 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.044 - - 1 - 0 N - - ISM2 Pro185Arg P185R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - PTPN21 Ser1099Asn S1099N not reviewed Insufficiently evaluated not reviewed unknown Array rs61746983 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TDP1 Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 1 - 1 N - - RIN3 Ala668Thr A668T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHGA Leu332Pro L332P not reviewed Insufficiently evaluated not reviewed unknown Array rs9658665 118 10602 0.01113 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1409 Ala1949Thr A1949T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX24 Pro499Arg P499R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.782 - - 5 Y 1 N - - C14ORF139 Ala57Ser A57S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BDKRB2 Val376Met V376M not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF839 Met527Leu M527L not reviewed Insufficiently evaluated not reviewed unknown Array 11 9518 0.0011557 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC016033 Gly189Arg G189R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADSSL1 Pro289Ala P289A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Asp4102Val D4102V not reviewed Insufficiently evaluated not reviewed unknown Array 68 9868 0.00689096 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 8 Y 2 N - - AHNAK2 Pro2190Ser P2190S not reviewed Insufficiently evaluated not reviewed unknown Array 15 9828 0.00152625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 3 - 1 N - - AHNAK2 Leu766Met L766M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - -3 - 0 N - - ATP10A Ala1397Val A1397V not reviewed Insufficiently evaluated not reviewed unknown Array rs9324127 484 10754 0.0450065 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP10A Val1198Met V1198M not reviewed Insufficiently evaluated not reviewed unknown Array rs2076746 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - HERC2 Gly2542Ser G2542S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TJP1 Asp1347Ala D1347A not reviewed Insufficiently evaluated not reviewed unknown Array rs2291166 459 9662 0.0475057 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - C15ORF54 Arg158Thr R158T not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PAK6 Cys198Tyr C198Y not reviewed Insufficiently evaluated not reviewed unknown Array 87 10720 0.00811567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - MGA Leu502Val L502V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - MGA Thr2923Ala T2923A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4F Asp595Asn D595N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - PPIP5K1 Asp1238His D1238H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP8B4 Ser105Asn S105N not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.175 - - 0 - 0 N - - TRPM7 Thr1430Ala T1430A not reviewed Insufficiently evaluated not reviewed unknown Array 20 9526 0.00209952 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LEO1 Glu663Asp E663D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1370 Thr625Ser T625S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9542 0.000523999 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - CCPG1 Val107Ala V107A not reviewed Insufficiently evaluated not reviewed unknown Array 32 9632 0.00332226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - HERC1 Pro1164Leu P1164L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C15ORF44 Asn97Ser N97S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC33 Pro610Leu P610L not reviewed Insufficiently evaluated not reviewed unknown Array 111 10052 0.0110426 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP1A1 Thr81Ile T81I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 Y - 3 - 3 N - - GOLGA6A Val656Ala V656A not reviewed Insufficiently evaluated not reviewed unknown Array rs2118541 1 10516 9.5093e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GOLGA6A Asn664Asp N664D not reviewed Insufficiently evaluated not reviewed unknown Array rs2740420 2 56 0.0357143 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NEIL1 Ile182Met I182M not reviewed Insufficiently evaluated not reviewed unknown Array rs7183491 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.816 - - -1 - 1 N - - SNX33 His279Gln H279Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.815 - - -1 - 1 N - - EFTUD1 Phe902Ser F902S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DET1 Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array 16 9940 0.00160966 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACAN Arg675Gln R675Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35102652 5 10004 0.0004998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MESP1 Glu11Asp E11D not reviewed Insufficiently evaluated not reviewed unknown Array 75 5564 0.0134795 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - ANPEP Val109Ile V109I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.297 - - -4 - 1 N - - ZNF710 Glu219Lys E219K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10614 0.00282646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - 0 - 0 N - - C15ORF58 Arg140Trp R140W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FES Pro466Leu P466L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10746 0.00083752 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PCSK6 Met500Thr M500T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10652 0.00469395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NARFL Ala435Thr A435T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10750 0.000930232 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SOX8 Arg335Trp R335W not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TPSG1 Arg158Trp R158W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.204 - - 7 Y 1 N - - TPSD1 Val138Met V138M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729111 140 10752 0.0130208 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - BAIAP3 Val1125Ile V1125I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10704 9.3423e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CRAMP1L Ser856Ala S856A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EME2 Gly253Asp G253D not reviewed Insufficiently evaluated not reviewed unknown Array 29 10750 0.00269767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NUBP2 Arg149His R149H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - RPL3L Gly296Arg G296R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 6 Y 0 N - - CCNF Arg351Ser R351S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.451 - - 3 - 1 N - - CCNF Arg451Cys R451C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - SRRM2 Pro331Ser P331S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRRM2 Ser435Thr S435T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - SRRM2 Ala467Val A467V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLYWCH1 Glu196Val E196V not reviewed Insufficiently evaluated not reviewed unknown Array rs61747746 48 8158 0.0058838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PAQR4 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OR1F1 His122Arg H122R not reviewed Insufficiently evaluated not reviewed unknown Array rs61731440 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF434 Asn434Del N434Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HSP90B2P Arg602Gln R602Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEKT5 Arg449Trp R449W not reviewed Insufficiently evaluated not reviewed unknown Array rs61731534 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CLEC16A Ala902Thr A902T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736204 72 10678 0.00674284 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFRSF17 Ile65Val I65V not reviewed Insufficiently evaluated not reviewed unknown Array rs11570147 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - AX747757 Ser132Ile S132I not reviewed Insufficiently evaluated not reviewed unknown Array rs73523020 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IL21R Ser318Arg S318R not reviewed Insufficiently evaluated not reviewed unknown Array rs3093385 45 10734 0.00419229 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.753 - - 3 - 1 N - - ZNF764 Ala139Val A139V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - C16ORF58 Gln15His Q15H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10166 9.8367e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF58 Leu7Met L7M not reviewed Insufficiently evaluated not reviewed unknown Array 23 9828 0.00234025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF720 Ile13Val I13V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739535 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCC12 Arg694His R694H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCC11 Leu481Met L481M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.201 - - -3 - 1 N - - OGFOD1 Thr448Ile T448I not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - CCDC135 Gln520Lys Q520K not reviewed Insufficiently evaluated not reviewed unknown Array 42 10754 0.00390552 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - PDPR Arg847Cys R847C not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFHX3 Pro2385Leu P2385L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - PKD1L2 Gly1251Trp G1251W not reviewed Insufficiently evaluated not reviewed unknown Array rs734824 65 10060 0.00646123 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Glu138Gly E138G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSD17B2 Stop388Trp X388W not reviewed Insufficiently evaluated not reviewed unknown Array rs8191246 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDH13 Asn39Ser N39S not reviewed Insufficiently evaluated not reviewed unknown Array rs72807847 149 9718 0.0153324 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - KIAA1609 Glu20Lys E20K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ZNF469 Ala1510Thr A1510T not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF469 Gly2986Arg G2986R not reviewed Insufficiently evaluated not reviewed unknown Array 3 3228 0.000929368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF469 Arg3014His R3014H not reviewed Insufficiently evaluated not reviewed unknown Array 14 3222 0.00434513 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SNAI3 Cys239Phe C239F not reviewed Insufficiently evaluated not reviewed unknown Array rs61736224 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - CTU2 Arg376Gln R376Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730419 49 10732 0.00456578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - FAM38A Asn1100Ser N1100S not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Ala827Val A827V not reviewed Insufficiently evaluated not reviewed unknown Array rs34246477 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDT1 Ile98Val I98V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10752 0.00344122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - CDT1 Ser491Asn S491N not reviewed Insufficiently evaluated not reviewed unknown Array 51 10750 0.00474419 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - OR1D2 Pro210Arg P210R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736104 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - OR3A1 Tyr181His Y181H not reviewed Insufficiently evaluated not reviewed unknown Array rs61734042 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - OR3A1 Asn175Ser N175S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734043 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR3A4 Tyr181His Y181H not reviewed Insufficiently evaluated not reviewed unknown Array rs2855677 380 10758 0.0353226 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYBBP1A Arg178Gly R178G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLD2 Ala804Thr A804T not reviewed Insufficiently evaluated not reviewed unknown Array rs11545163 424 10758 0.0394125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC16A13 Pro363Leu P363L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNAH2 Ala1237Thr A1237T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH2 Ala3542Thr A3542T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743907 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 1 - 2 N - - KDM6B Pro1670Thr P1670T not reviewed Insufficiently evaluated not reviewed unknown Array 9 4186 0.00215002 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PER1 Pro520Ser P520S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 3 - 2 N - - PFAS Leu655Phe L655F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGEF15 Glu640Lys E640K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - BC050323 Ala935Val A935V not reviewed Insufficiently evaluated not reviewed unknown Array rs11868392 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC48 Ile387Val I387V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9762 0.000204876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLII Glu364Val E364V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741784 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - PIGS Ala344Ser A344S not reviewed Insufficiently evaluated not reviewed unknown Array rs35452097 311 10758 0.0289087 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SDF2 Gly100Ala G100A not reviewed Insufficiently evaluated not reviewed unknown Array rs34038517 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.885 - - 1 - 2 N - - LRRC37BP1 Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array rs73264000 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF42 Ile308Leu I308L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743157 79 9666 0.00817298 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM98 Thr180Met T180M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 2 - 0 N - - CCL8 His89Asn H89N not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - 0 - 0 N - - GAS2L2 Ala481Thr A481T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 1 - 0 N - - CCL5 Lys68Arg K68R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - LYZL6 Arg136Gly R136G not reviewed Insufficiently evaluated not reviewed unknown Array rs61753640 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - CCL16 Thr103Met T103M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.737 - - 2 - 1 N - - PIGW Val378Leu V378L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10754 0.00306862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - 0 - 1 N - - AATF Glu174Lys E174K not reviewed Insufficiently evaluated not reviewed unknown Array rs28656116 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - TADA2A Pro145Ser P145S not reviewed Insufficiently evaluated not reviewed unknown Array rs34408045 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.755 - - 3 - 1 N - - TADA2A Ile351Met I351M not reviewed Insufficiently evaluated not reviewed unknown Array rs2522969 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP1R1B Glu126Asp E126D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - CSF3 Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KRTAP1-1 Cys91Tyr C91Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35024033 338 10064 0.0335851 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - KRTAP2-4 Arg59Cys R59C not reviewed Insufficiently evaluated not reviewed unknown Array rs12938147 84 3406 0.0246624 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRT33A Ile272Val I272V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRT33B Arg395His R395H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10742 0.00223422 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - KRT37 Cys309Ser C309S not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - KRT38 Ala205Ser A205S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HAP1 Gly656Arg G656R not reviewed Insufficiently evaluated not reviewed unknown Array rs34044330 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - STAT5A Arg389His R389H not reviewed Insufficiently evaluated not reviewed unknown Array rs2230134 42 10758 0.00390407 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.277 - - 1 - 1 N - - BC043620 Pro56Ser P56S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10744 0.00307148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM106A His233Arg H233R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.179 - - 1 - 0 N - - KIF18B Gln653Lys Q653K not reviewed Insufficiently evaluated not reviewed unknown Array rs60374269 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDK5RAP3 Gly172Asp G172D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741124 24 10324 0.00232468 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - AF532777 Ala76Pro A76P not reviewed Insufficiently evaluated not reviewed unknown Array rs56290537 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABI3 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.872 - - 0 - 2 N - - NGFR Ser325Leu S325L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITGA3 Leu371Phe L371F not reviewed Insufficiently evaluated not reviewed unknown Array rs61730085 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LPO Arg681Gln R681Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - 0 - 1 N - - BZRAP1 His821Arg H821R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10748 0.00213993 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - TEX14 Met760Thr M760T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AL833315 Arg38Cys R38C not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - LRRC37A3 Gly1207Arg G1207R not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - KIF19 Arg975Gln R975Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 9758 0.002562 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - FDXR Arg251Trp R251W not reviewed Insufficiently evaluated not reviewed unknown Array rs34038065 179 10758 0.0166388 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - C17ORF28 His192Tyr H192Y not reviewed Insufficiently evaluated not reviewed unknown Array 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBF1 Asp209Val D209V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - SRP68 Ala538Thr A538T not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - QRICH2 Arg1289Trp R1289W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RHBDF2 Ala361Val A361V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.28 - - 2 - 1 N - - TMC6 Val287Ile V287I not reviewed Insufficiently evaluated not reviewed unknown Array rs8078238 184 10484 0.0175506 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - AL832652 His208Tyr H208Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH17 Arg190His R190H not reviewed Insufficiently evaluated not reviewed unknown Array 174 10756 0.016177 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP36 Arg1064Gln R1064Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34458438 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC40 Gln580Arg Q580R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10350 0.00144927 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - 0 - 1 N - - CARD14 Cys756Tyr C756Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34822755 113 10746 0.0105155 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.154 - - 6 Y 0 N - - RNF213 Ala55Gly A55G not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAHCC1 Ala349Thr A349T not reviewed Insufficiently evaluated not reviewed unknown Array 153 9662 0.0158352 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FASN Arg2185Gln R2185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45507397 110 10680 0.0102996 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF101 Lys107Met K107M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF62 Arg157Cys R157C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C17ORF62 Asp117Asn D117N not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADCYAP1 Gly112Asp G112D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - L3MBTL4 Pro284Leu P284L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LAMA1 Lys1632Glu K1632E not reviewed Insufficiently evaluated not reviewed unknown Array rs11872364 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CIDEA Leu127Val L127V not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AFG3L2 Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TAF4B Ile249Val I249V not reviewed Insufficiently evaluated not reviewed unknown Array rs16942219 51 9668 0.00527513 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSG4 Asn327Ser N327S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 0 - 2 N - - LOXHD1 Asp416Tyr D416Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35727744 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - LOXHD1 Val303Ala V303A not reviewed Insufficiently evaluated not reviewed unknown Array rs35007621 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCEB3B Arg84Pro R84P not reviewed Insufficiently evaluated not reviewed unknown Array rs61747013 227 10756 0.0211045 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - DCC Ile964Val I964V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - -4 - 0 N - - CDH20 Gln371Arg Q371R not reviewed Insufficiently evaluated not reviewed unknown Array rs35923922 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KDSR Ser136Asn S136N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDH19 Ala653Asp A653D not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RTTN His1738Tyr H1738Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35068710 24 9634 0.00249118 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - RTTN Pro76Leu P76L not reviewed Insufficiently evaluated not reviewed unknown Array 57 9612 0.00593009 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - NETO1 Ala487Gly A487G not reviewed Insufficiently evaluated not reviewed unknown Array rs17086286 224 10758 0.0208217 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - 1 - 1 N - - ZNF407 Ile106Asn I106N not reviewed Insufficiently evaluated not reviewed unknown Array 20 9722 0.00205719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 7 Y 1 N - - GALR1 Pro342Leu P342L not reviewed Insufficiently evaluated not reviewed unknown Array rs5377 61 10744 0.00567759 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF24 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array 168 10744 0.0156366 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTSL5 Trp244Arg W244R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP8B3 Arg1243Gly R1243G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - REXO1 Thr590Ser T590S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10088 0.000297383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC022568 Cys84Trp C84W not reviewed Insufficiently evaluated not reviewed unknown Array rs7245964 8 118 0.0677966 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - BC022568 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7246938 8 118 0.0677966 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF77 Gly460Arg G460R not reviewed Insufficiently evaluated not reviewed unknown Array rs35411355 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.106 - - 6 Y 0 N - - ZFR2 Glu866Lys E866K not reviewed Insufficiently evaluated not reviewed unknown Array 4 9990 0.0004004 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - ANKRD24 Ala1078Thr A1078T not reviewed Insufficiently evaluated not reviewed unknown Array 48 9786 0.00490497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - SH3GL1 Arg242Cys R242C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.332 - - 8 Y 1 N - - CHAF1A Gln126Arg Q126R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001001520 Pro96Leu P96L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10168 0.000491738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 7 Y 0 N - - PLIN4 Val536Ile V536I not reviewed Insufficiently evaluated not reviewed unknown Array 17 9866 0.00172309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - FUT5 Lys244Gln K244Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACSBG2 Pro601Arg P601R not reviewed Insufficiently evaluated not reviewed unknown Array rs35609668 196 10758 0.018219 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.047 - - 5 Y 0 N - - PNPLA6 Val22Leu V22L not reviewed Insufficiently evaluated not reviewed unknown Array 164 10714 0.0153071 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLEC4M Tyr251Cys Y251C not reviewed Insufficiently evaluated not reviewed unknown Array rs479448 543 10758 0.0504741 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 1 N - - PRAM1 Gln230Arg Q230R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10200 0.00362745 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2Z1 Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746162 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Pro10448Arg P10448R not reviewed Insufficiently evaluated not reviewed unknown Array 39 9996 0.00390156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Met9702Ile M9702I not reviewed Insufficiently evaluated not reviewed unknown Array rs7260131 27 9854 0.00274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 His9699Tyr H9699Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7248079 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF266 Val80Ile V80I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - FBXL12 Pro282Leu P282L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NM_001013640 Glu151Del E151Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - YIPF2 Arg112Trp R112W not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KANK2 Ala490Thr A490T not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KANK2 Val447Met V447M not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NM_018687 Leu47Ser L47S not reviewed Insufficiently evaluated not reviewed unknown Array rs1541923 239 10418 0.0229411 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_018687 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array rs59168178 317 10326 0.0306992 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF433 Ala206Gly A206G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - 1 - 1 N - - ZNF791 Thr91Met T91M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - 2 - 0 N - - FBXW9 Glu76Asp E76D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - -2 - 0 N - - DCAF15 Gly19Ser G19S not reviewed Insufficiently evaluated not reviewed unknown Array 1 12 0.0833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.792 - - 2 - 0 N - - LPHN1 Pro1428Gln P1428Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9750 0.000205128 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.406 - - 4 Y 1 N - - PKN1 Arg510Cys R510C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10712 9.3353e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PKN1 Arg574Gln R574Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10110 0.00346192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMR2 Cys167Arg C167R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - EMR2 Val103Ile V103I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732003 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - OR7C1 Arg233Lys R233K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - OR7C1 Phe168Del F168Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR7C1 Glu159Lys E159K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - CCDC105 Gly63Arg G63R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10622 0.00376577 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC27A1 Ala645Val A645V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FCHO1 Arg613Trp R613W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - IL12RB1 Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array rs17887176 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - PDE4C Arg289Gln R289Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34503849 187 10758 0.0173824 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1683 Thr422Ile T422I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC25 His124Gln H124Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.647 - - -1 - 1 N - - KLHL26 Pro334Ser P334S not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - COPE Tyr127His Y127H not reviewed Insufficiently evaluated not reviewed unknown Array 54 10744 0.00502606 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - SUGP2 Ile528Val I528V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - HAPLN4 Ser348Thr S348T not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - -2 - 0 N - - ZNF486 Cys145Arg C145R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10710 0.00130719 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF208 Leu636Val L636V not reviewed Insufficiently evaluated not reviewed unknown Array rs16982682 90 10460 0.00860421 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 0 - 1 N - - ZNF257 Thr222Ala T222A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10684 0.00233995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF676 Tyr163Cys Y163C not reviewed Insufficiently evaluated not reviewed unknown Array 185 10066 0.0183787 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF599 Gly342Ser G342S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM187B Arg241Gly R241G not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - HAUS5 Met136Thr M136T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10410 0.00067243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - ZNF585B Gly294Arg G294R not reviewed Insufficiently evaluated not reviewed unknown Array 272 10758 0.0252835 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - HKR1 Tyr41Asp Y41D not reviewed Insufficiently evaluated not reviewed unknown Array rs35388283 310 10758 0.0288158 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF527 Asn222His N222H not reviewed Insufficiently evaluated not reviewed unknown Array 84 9468 0.00887199 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF571 Gly319Asp G319D not reviewed Insufficiently evaluated not reviewed unknown Array rs61744939 264 10758 0.0245399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.486 - - 4 Y 1 N - - ZNF607 Arg433His R433H not reviewed Insufficiently evaluated not reviewed unknown Array rs2385006 336 10758 0.0312326 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUMBL Ala39Glu A39E not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITPKC Asp116Val D116V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10754 0.00306862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 8 Y 1 N - - MEGF8 Ala2358Thr A2358T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10722 0.00046633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIPE Pro99Ser P99S not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - ZNF155 Lys491Arg K491R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFP112 Met68Val M68V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF285A Cys190His C190H not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF285A Ser186Asn S186N not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF229 Gly513Arg G513R not reviewed Insufficiently evaluated not reviewed unknown Array 96 10494 0.00914808 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP1R13L Gly327Cys G327C not reviewed Insufficiently evaluated not reviewed unknown Array 7 9826 0.000712395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RTN2 Phe264Leu F264L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745812 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.199 - - 0 - 0 N - - CCDC8 Arg275Gln R275Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - NPAS1 Gly118Ser G118S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - DHX34 Pro86Ser P86S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC014430 Leu111Arg L111R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10720 0.00158582 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM83E Arg179Cys R179C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10436 0.00162898 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - FAM83E Glu72Gly E72G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10486 0.00114438 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - PIH1D1 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AK090661 Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP2A1 Asn641Ser N641S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - MED25 Gln671Pro Q671P not reviewed Insufficiently evaluated not reviewed unknown Array 3 104 0.0288462 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.508 - - 4 Y 1 N - - C19ORF48 Pro103Leu P103L not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIGLEC5 Lys382Arg K382R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - -3 - 0 N - - ZNF611 Cys40Phe C40F not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.165 - - 4 Y 0 N - - ZNF761 Ser92Leu S92L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB2 Glu584Lys E584K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - KIR3DX1 Ile124Val I124V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.708 - - -4 - 1 N - - LILRA1 Cys98Tyr C98Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NLRP7 Arg390His R390H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10342 0.00174047 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.057 Y - 1 - 1 N - - BC112197 Asp106Asn D106N not reviewed Insufficiently evaluated not reviewed unknown Array rs73606259 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZSCAN5B Lys204Asn K204N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.427 - - 1 - 1 N - - ZSCAN5B Arg132His R132H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF835 Gly547Ala G547A not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNF324B Gln132Arg Q132R not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MZF1 Gly128Arg G128R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10482 0.00305285 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADI1 Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KLF11 Met477Val M477V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KCNS3 Ala382Val A382V not reviewed Insufficiently evaluated not reviewed unknown Array rs34658212 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOB Ile1555Val I1555V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - POMC Ala195Thr A195T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10740 0.00297951 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - NRBP1 Val365Ile V365I not reviewed Insufficiently evaluated not reviewed unknown Array rs56004639 176 10758 0.0163599 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - PLB1 Ile1001Thr I1001T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.421 - - 3 - 1 N - - SPDYA Trp43Arg W43R not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.473 - - 7 Y 1 N - - TRMT61B Pro71Ser P71S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.595 - - 3 - 1 N - - XDH Lys1313Glu K1313E not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PREPL Asn403Tyr N403Y not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - PREPL Gln26Lys Q26K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - -2 - 0 N - - STON1-GTF2A1L Ala990Val A990V not reviewed Insufficiently evaluated not reviewed unknown Array rs34078123 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF63 Leu371Met L371M not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C2ORF63 Ala368Thr A368T not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP34 Asp2138Asn D2138N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF42 Ala294Ser A294S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF638 Ile1471Phe I1471F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - C2ORF3 Gln316Glu Q316E not reviewed Insufficiently evaluated not reviewed unknown Array rs6742946 186 10758 0.0172895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TEKT4 Ala2ValGlnThrAspValLeuLeuProGluLeuAlaPro A2VQTDVLLPELAP not reviewed Insufficiently evaluated not reviewed unknown Array 6 98 0.0612245 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - TEKT4 Cys8Tyr C8Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - TBC1D8 Ala156Glu A156E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IL1F7 Arg152Trp R152W not reviewed Insufficiently evaluated not reviewed unknown Array rs28947200 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - 7 Y 2 N - - MARCO Ala19Val A19V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPB41L5 Leu502Phe L502F not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MYO7B Thr1567Met T1567M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10298 0.00116527 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.922 - - 2 - 2 N - - GPR39 Lys407Del K407Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPC2 Asn457Ser N457S not reviewed Insufficiently evaluated not reviewed unknown Array rs34444151 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPD2 Leu576Val L576V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLA2R1 Gly88Ser G88S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - COBLL1 Ala289Thr A289T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - METTL8 Ser142Leu S142L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731489 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - PDE11A Ala369Thr A369T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 1 - 0 N - - PMS1 Glu27Gln E27Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5742973 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - CR603438 Phe55Val F55V not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR603438 Cys113Tyr C113Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR603438 Gln154Arg Q154R not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR603438 Ile157Lys I157K not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CR603438 Arg185Lys R185K not reviewed Insufficiently evaluated not reviewed unknown Array rs112290362 3 122 0.0245902 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CR603438 Phe197Leu F197L not reviewed Insufficiently evaluated not reviewed unknown Array rs113150959 3 122 0.0245902 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH7 Leu3458Phe L3458F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - SPATS2L Lys497Glu K497E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 0 - 2 N - - SGOL2 Phe1223Ser F1223S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9460 0.00359408 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - ZDBF2 Arg687His R687H not reviewed Insufficiently evaluated not reviewed unknown Array 72 9762 0.00737554 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - ZDBF2 Ala1303Val A1303V not reviewed Insufficiently evaluated not reviewed unknown Array 18 9460 0.00190275 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DYTN Arg46Cys R46C not reviewed Insufficiently evaluated not reviewed unknown Array 29 9720 0.00298354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 8 Y 0 N - - ACADL Ala363Thr A363T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ERBB4 Asp1131Asn D1131N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - BARD1 Cys645Arg C645R not reviewed Insufficiently evaluated not reviewed unknown Array rs34744268 242 10758 0.0224949 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 8 Y 0 N - - RNF25 Glu203Asp E203D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - DNPEP Ala291Arg A291R not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARMC9 Ile234Met I234M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARMC9 Arg636Trp R636W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CHRNG Arg373Gln R373Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y - 0 - 1 N - - C2ORF54 Arg382Cys R382C not reviewed Insufficiently evaluated not reviewed unknown Array 148 8812 0.0167953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DEFB127 Lys58Arg K58R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - -3 - 1 N - - DEFB128 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBCK1 AspTrp461GluGly DW461EG not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIRPB2 Leu304Phe L304F not reviewed Insufficiently evaluated not reviewed unknown Array rs8119290 9 7820 0.0011509 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - SIRPB1 Pro176Ser P176S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733947 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - SIRPG His9Gln H9Q not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - -1 - 2 N - - ZNF343 Val161Ala V161A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CDC25B Gly66Asp G66D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.706 - - 4 Y 1 N - - AX746654 Met131Thr M131T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD93 Pro646Arg P646R not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CST11 Val103Ile V103I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF337 Arg185His R185H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - MYLK2 Ala58Asp A58D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10750 0.000837209 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 5 Y 0 N - - FOXS1 Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10746 0.00335008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.219 - - 1 - 1 N - - C20ORF185 Pro181Ser P181S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTI1 Ala534Ser A534S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 1 N - - ZHX3 Thr439Ala T439A not reviewed Insufficiently evaluated not reviewed unknown Array rs35600883 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LPIN3 Arg259Trp R259W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10746 0.00130281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - R3HDML Ala82Thr A82T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - TTPAL Gln97Lys Q97K not reviewed Insufficiently evaluated not reviewed unknown Array rs35355899 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - ZMYND8 Met226Thr M226T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCOA3 Ser649Phe S649F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.898 - - 5 Y 2 N - - ZNFX1 Val1365Met V1365M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNFX1 Ser249Tyr S249Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35781694 106 10758 0.00985313 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - CDH4 Thr27Ile T27I not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAF4 Asp869Glu D869E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - -2 - 2 N - - LAMA5 Pro317Leu P317L not reviewed Insufficiently evaluated not reviewed unknown Array 200 10722 0.0186532 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CXADR Pro356Ser P356S not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - TMPRSS15 Asn660His N660H not reviewed Insufficiently evaluated not reviewed unknown Array rs11088674 678 10758 0.0630229 6 0 8 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - NCAM2 Thr267Ile T267I not reviewed Insufficiently evaluated not reviewed unknown Array 4 9718 0.000411607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LTN1 Arg1226Tyr R1226Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTN1 Thr1070Met T1070M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTN1 Lys891Arg K891R not reviewed Insufficiently evaluated not reviewed unknown Array rs35877629 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SIM2 Ser660Pro S660P not reviewed Insufficiently evaluated not reviewed unknown Array 4 3716 0.00107643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.163 - - 3 - 0 N - - DSCR3 Ile28Val I28V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - C21ORF129 Pro130His P130H not reviewed Insufficiently evaluated not reviewed unknown Array rs2838095 220 3234 0.0680272 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DNMT3L Gly129Arg G129R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10744 0.000558451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - KRTAP10-3 Ala21Asp A21D not reviewed Insufficiently evaluated not reviewed unknown Array 55 10728 0.00512677 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C21ORF29 Arg57Gln R57Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-5 Ser109Leu S109L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL18A1 Pro48Ala P48A not reviewed Insufficiently evaluated not reviewed unknown Array rs61749002 186 10346 0.017978 5 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CECR2 Arg998Gly R998G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLTCL1 Val1591Leu V1591L not reviewed Insufficiently evaluated not reviewed unknown Array rs2073738 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLTCL1 Lys941Arg K941R not reviewed Insufficiently evaluated not reviewed unknown Array rs35398725 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARVCF Asp562Asn D562N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.9 - - -1 - 2 N - - P2RX6 His152Tyr H152Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC116 Ile276Asn I276N not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 7 Y 2 N - - PRAME Asn204Ser N204S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730836 241 10758 0.0224019 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAB36 His102Asp H102D not reviewed Insufficiently evaluated not reviewed unknown Array rs61758745 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 3 - 0 N - - IGLL1 Ala174Met A174M not reviewed Insufficiently evaluated not reviewed unknown Array rs1064419 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGLL1 Asn171Ser N171S not reviewed Insufficiently evaluated not reviewed unknown Array rs1064421 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - CRYBB3 Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001013618 Tyr61Cys Y61C not reviewed Insufficiently evaluated not reviewed unknown Array rs28687392 25 10754 0.00232472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLA2G3 Val37Ile V37I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C22ORF30 Glu408Ala E408A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APOL4 Glu321Lys E321K not reviewed Insufficiently evaluated not reviewed unknown Array rs61730820 59 10256 0.00575273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACO2 Pro330Ser P330S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYB5R3 Val300Ile V300I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743746 96 10728 0.00894854 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TTLL12 Leu109Val L109V not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMC1B Gln1177Leu Q1177L not reviewed Insufficiently evaluated not reviewed unknown Array rs61737925 136 9736 0.0139688 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GTSE1 Asp618His D618H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - CELSR1 Phe2518Leu F2518L not reviewed Insufficiently evaluated not reviewed unknown Array 287 10758 0.0266778 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PLCL2 Stop1002Gly X1002G not reviewed Insufficiently evaluated not reviewed unknown Array rs60111091 81 10758 0.00752928 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACVR2B Val259Ala V259A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 2 - 0 N - - NKTR Pro584Ser P584S not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NKTR Gly946Ala G946A not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC13 Gln233Arg Q233R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 0 - 2 N - - ABHD5 Phe68Leu F68L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 0 - 1 N - - FYCO1 Arg765His R765H not reviewed Insufficiently evaluated not reviewed unknown Array rs34266136 96 10758 0.00892359 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASSF1 Leu283Val L283V not reviewed Insufficiently evaluated not reviewed unknown Array rs11914848 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - 0 - 1 N - - CR607469 Lys99Thr K99T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KBTBD8 Lys365Asn K365N not reviewed Insufficiently evaluated not reviewed unknown Array rs35999415 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF64 Asp252Asn D252N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CD96 Thr484Met T484M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPICE1 Lys335Asn K335N not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.923 - - 1 - 2 N - - C3ORF15 Thr734Met T734M not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HCLS1 Ile54Thr I54T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KALRN Arg1930Met R1930M not reviewed Insufficiently evaluated not reviewed unknown Array rs35298864 260 10758 0.0241681 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OSBPL11 Glu695Gly E695G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PODXL2 Val456Ala V456A not reviewed Insufficiently evaluated not reviewed unknown Array rs34117815 153 10756 0.0142246 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.531 - - 2 - 1 N - - DNAJB8 Ala133Thr A133T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - H1FOO Val311Leu V311L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL6A6 Val911Ile V911I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9706 0.000206058 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - COL6A6 Phe1848Leu F1848L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9802 0.000102019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DNAJC13 Ala423Val A423V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RYK Met189Val M189V not reviewed Insufficiently evaluated not reviewed unknown Array 8 8872 0.000901713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM194A Gly433Arg G433R not reviewed Insufficiently evaluated not reviewed unknown Array rs11919896 281 10758 0.0261201 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - P2RY14 Val167Ala V167A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ARHGEF26 Leu734Ile L734I not reviewed Insufficiently evaluated not reviewed unknown Array 4 9854 0.000405926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VEPH1 Ser208Cys S208C not reviewed Insufficiently evaluated not reviewed unknown Array rs34559487 62 10758 0.00576315 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM59 His260Arg H260R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10756 0.00632205 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRIQ4 Lys159Glu K159E not reviewed Insufficiently evaluated not reviewed unknown Array rs16854411 287 9954 0.0288326 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - CLDN11 Ala145Thr A145T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - PCLD Phe35Leu F35L not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - MCF2L2 Glu345Gly E345G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - IL1RAP Val473Met V473M not reviewed Insufficiently evaluated not reviewed unknown Array rs34661910 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.221 - - 0 - 1 N - - CPN2 Ile538Thr I538T not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 3 0 4 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 3 - 3 N - - APOD Phe56Val F56V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.987 - - 3 - 2 N - - MUC20 Leu496Pro L496P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10058 0.00198847 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF141 Pro74Ser P74S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733103 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.78 - - 3 - 1 N - - AX747178 Arg92Cys R92C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM53A Arg271Gly R271G not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - TNIP2 Glu419Asp E419D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - RGS12 Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OTOP1 Val321Met V321M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - C4ORF23 Ser321Arg S321R not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPZ Ala377Val A377V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - CPZ Val499Leu V499L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC035722 CysStop100Leu CX100L not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FGFBP1 Lys63Thr K63T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 3 - 1 N - - CLRN2 Leu16Phe L16F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10310 9.6993e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 0 - 2 N - - SLIT2 Ser92Asn S92N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10754 0.00232472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - GPR125 Lys509Ile K509I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 6 Y 1 N - - GPR125 Ile141Leu I141L not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - DHX15 Ala106Ser A106S not reviewed Insufficiently evaluated not reviewed unknown Array rs35553489 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARAP2 Leu771Arg L771R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - RELL1 Arg194Trp R194W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10356 0.000386249 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TLR1 Pro733Leu P733L not reviewed Insufficiently evaluated not reviewed unknown Array rs5743621 68 10758 0.00632088 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - TLR6 Val327Met V327M not reviewed Insufficiently evaluated not reviewed unknown Array rs3796508 120 10756 0.0111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NSUN7 Met564Leu M564L not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - -3 - 1 N - - CORIN Cys304Tyr C304Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NFXL1 Thr683Pro T683P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 4 Y 1 N - - TEC Arg580Gln R580Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FRYL Asn2914Lys N2914K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9462 0.000105685 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - CEP135 Ser997Leu S997L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TECRL Pro45Ser P45S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744866 666 10756 0.0619189 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - CENPC1 Gly31Asp G31D not reviewed Insufficiently evaluated not reviewed unknown Array 25 9510 0.00262881 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UGT2B17 Val181Ile V181I not reviewed Insufficiently evaluated not reviewed unknown Array rs72551386 2 98 0.0204082 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGT2B28 Asp361Tyr D361Y not reviewed Insufficiently evaluated not reviewed unknown Array 101 7462 0.0135352 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - UGT2B4 Pro287Arg P287R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10744 0.000651526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 5 Y 2 N - - C4ORF26 Tyr110His Y110H not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDKL2 Ser381Thr S381T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - USO1 Ala775Thr A775T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9502 0.00115765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPEF2 Glu412Lys E412K not reviewed Insufficiently evaluated not reviewed unknown Array rs35599561 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.035 - - 0 - 0 N - - SHROOM3 Ala1556Val A1556V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741132 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FRAS1 Thr1646Ile T1646I not reviewed Insufficiently evaluated not reviewed unknown Array rs34271211 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - FRAS1 Thr2804Met T2804M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - FRAS1 Gln3317Glu Q3317E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - HSP90AB3P Stop598Trp X598W not reviewed Insufficiently evaluated not reviewed unknown Array rs10007517 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HERC6 Asn125Ser N125S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMRN1 Ile672Met I672M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - AK098333 Asp46Gly D46G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MANBA His681Arg H681R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 1 - 3 N - - LRIT3 Asp90Val D90V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740116 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - C4ORF21 Ser1052Pro S1052P not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - QRFPR Ser90Asn S90N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - FAT4 Lys2160Glu K2160E not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - RNF150 Val394Ile V394I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NR3C2 Asn444Thr N444T not reviewed Insufficiently evaluated not reviewed unknown Array rs5523 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ANP32C Leu24Met L24M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -3 - 2 N - - NEK1 Gln883Glu Q883E not reviewed Insufficiently evaluated not reviewed unknown Array rs6828134 43 9546 0.0045045 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - MORF4 Arg232Trp R232W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ODZ1 Gly469Arg G469R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C4ORF47 Arg84Trp R84W not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORBS2 Arg1134Gly R1134G not reviewed Insufficiently evaluated not reviewed unknown Array rs61733480 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TLR3 Tyr307Asp Y307D not reviewed Insufficiently evaluated not reviewed unknown Array rs5743317 118 10756 0.0109706 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 0 N - - TAS2R1 Cys141Tyr C141Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2234232 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - MYO10 Arg1921Gly R1921G not reviewed Insufficiently evaluated not reviewed unknown Array 16 10092 0.00158541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DROSHA Pro170Leu P170L not reviewed Insufficiently evaluated not reviewed unknown Array 356 9644 0.0369141 4 0 6 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - PDZD2 Ser1850Asn S1850N not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - 0 - 1 N - - SPEF2 Ser133Asn S133N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - 0 - 0 N - - EGFLAM Arg948Trp R948W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OSMR Val151Ile V151I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - C6 Ile283Ser I283S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - GHR Val162Ile V162I not reviewed Insufficiently evaluated not reviewed unknown Array rs6413484 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - CDC20B Thr97Ser T97S not reviewed Insufficiently evaluated not reviewed unknown Array rs34132993 288 10758 0.0267708 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - MAP3K1 Gln237Arg Q237R not reviewed Insufficiently evaluated not reviewed unknown Array rs55694258 7 9864 0.000709651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CENPK Glu151Gly E151G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NLN Val315Ile V315I not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.718 - - -4 - 1 N - - SREK1 Lys447Arg K447R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POLK Asn737Asp N737D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.873 - - -1 - 2 N - - JMY Ala316Val A316V not reviewed Insufficiently evaluated not reviewed unknown Array rs12109475 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JMY Pro548Leu P548L not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ERAP1 Ser156Leu S156L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - EFNA5 Asp179Asn D179N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - LOX Pro159Gln P159Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41407546 70 10744 0.00651526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 4 Y 1 N - - ZNF474 Val96Leu V96L not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - SLC27A6 Asp482Tyr D482Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - AFF4 Thr136Pro T136P not reviewed Insufficiently evaluated not reviewed unknown Array rs34527550 99 10758 0.00920245 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.008 - - 4 Y 0 N - - C5ORF15 Arg173Gly R173G not reviewed Insufficiently evaluated not reviewed unknown Array rs61730679 191 10758 0.0177542 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TGFBI Met343Val M343V not reviewed Insufficiently evaluated not reviewed unknown Array rs35920018 70 10454 0.006696 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 0 - 1 N - - FAM53C Cys276Ser C276S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KDM3B Pro1169Ser P1169S not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB1 Leu390Phe L390F not reviewed Insufficiently evaluated not reviewed unknown Array rs2233592 159 10758 0.0147797 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB3 Thr348Ser T348S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -2 - 0 N - - PCDHB8 Gly759Val G759V not reviewed Insufficiently evaluated not reviewed unknown Array rs35245446 6 128 0.046875 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PCDH1 Ala1167Val A1167V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10728 0.000186428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK027578 Met37Thr M37T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF37 Leu243Phe L243F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10160 0.0003937 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.782 - - 0 - 1 N - - TNIP1 Pro553Leu P553L not reviewed Insufficiently evaluated not reviewed unknown Array rs2233306 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - FAT2 Phe1838Leu F1838L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SOX30 Leu540Pro L540P not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.913 - - 7 Y 2 N - - WWC1 GlnThr820HisGly QT820HG not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC99 Arg154Leu R154L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - DOCK2 Val966Ala V966A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - CDHR2 Arg759Trp R759W not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LMAN2 Cys16Tyr C16Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF354A Ser237Gly S237G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.252 - - 2 - 1 N - - ZNF354C Leu539Val L539V not reviewed Insufficiently evaluated not reviewed unknown Array 431 10756 0.0400707 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - MAML1 Pro879Leu P879L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 7 Y 0 N - - ZFP62 Ile657Thr I657T not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC2 Gln576His Q576H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - SERPINB9 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.496 - - 1 - 1 N - - OFCC1 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.549 - - 7 Y 1 N - - CAP2 Thr311Ala T311A not reviewed Insufficiently evaluated not reviewed unknown Array rs34620829 197 10758 0.018312 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SLC17A1 Cys208Tyr C208Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIST1H1E Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10698 9.3475e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTN2A1 Pro437Thr P437T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 4 Y 0 N - - BTN1A1 Arg64Cys R64C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF323 Arg238His R238H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2U1P Ser252Tyr S252Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2H1 Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.665 - - 0 - 1 N - - MAS1L Thr59Pro T59P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - MAS1L Thr56Met T56M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 2 - 2 N - - HLA-A GlnGlu86LeuGln QE86LQ not reviewed Insufficiently evaluated not reviewed unknown Array rs1064588 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HLA-A Asp126His D126H not reviewed Insufficiently evaluated not reviewed unknown Array rs41560216 17 7466 0.00227699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM15 Pro74Ser P74S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 0 N - - NRM Ser30GlyValAla S30GVA not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MDC1 Pro1568Ser P1568S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MUC21 Lys2Glu K2E not reviewed Insufficiently evaluated not reviewed unknown Array 9 7522 0.00119649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF19 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 46 6640 0.00692771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MICA Glu148Lys E148K not reviewed Insufficiently evaluated not reviewed unknown Array rs1051791 43 3234 0.0132962 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCR3 Cys108Ser C108S not reviewed Insufficiently evaluated not reviewed unknown Array 7 7522 0.000930603 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - PRRC2A Arg2102His R2102H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001098534 Arg1097Gln R1097Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001098534 Pro390Ser P390S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF27 Asp211Asn D211N not reviewed Insufficiently evaluated not reviewed unknown Array rs34174627 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SKIV2L Glu3Ala E3A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNXB Met2780Val M2780V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - ATF6B Ser158Ala S158A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DMB Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRD2 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC39A7 His90Arg H90R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10302 9.7068e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITPR3 Arg1727Trp R1727W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PNPLA1 Glu15Lys E15K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF89 Val335Leu V335L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH8 Arg1205His R1205H not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PGC Val212Ile V212I not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POLH Leu584Pro L584P not reviewed Insufficiently evaluated not reviewed unknown Array rs9333554 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - CAPN11 Arg420Trp R420W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MEP1A Lys396Arg K396R not reviewed Insufficiently evaluated not reviewed unknown Array rs62619974 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MEP1A Arg483Thr R483T not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR116 Ala431Val A431V not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR115 Glu337Lys E337K not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - KLHL31 Asn11Ser N11S not reviewed Insufficiently evaluated not reviewed unknown Array rs6908377 195 10756 0.0181294 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 2 N - - C6ORF142 His898Gln H898Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL12A1 Gly2283Glu G2283E not reviewed Insufficiently evaluated not reviewed unknown Array 102 9662 0.0105568 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - HMGN3 Ala48Pro A48P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 2 - 2 N - - PRSS35 Gly413Ala G413A not reviewed Insufficiently evaluated not reviewed unknown Array 28 10752 0.00260417 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - KIAA1009 Glu1075Gly E1075G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10756 0.00232428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - KIAA1009 Leu1052Pro L1052P not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - NT5E Thr530Ala T530A not reviewed Insufficiently evaluated not reviewed unknown Array rs34160251 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDN1 Ala2386Val A2386V not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - MDN1 Leu53Ser L53S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - KIAA0776 Arg518His R518H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NDUFAF4 Leu14Ile L14I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.015 Y - -2 - 1 N - - C6ORF112 Cys59Arg C59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - QRSL1 Arg350Lys R350K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -3 - 2 N - - AK094715 Val527Ile V527I not reviewed Insufficiently evaluated not reviewed unknown Array rs73520752 8 128 0.0625 8 0 9 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - MICAL1 Arg1049Cys R1049C not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 8 Y 2 N - - KIAA1919 Gln425Arg Q425R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 0 - 0 N - - MARCKS Pro313Leu P313L not reviewed Insufficiently evaluated not reviewed unknown Array 11 8436 0.00130393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FRK Asn272Ser N272S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - ROS1 Trp847Arg W847R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729670 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - MYB Gly510Glu G510E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 6 Y 1 N - - FAM54A Asn6Ser N6S not reviewed Insufficiently evaluated not reviewed unknown Array 103 10756 0.00957605 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - PPIL4 Ile66Val I66V not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - RBM16 Gly867Glu G867E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - SLC22A1 Arg342His R342H not reviewed Insufficiently evaluated not reviewed unknown Array rs34205214 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LPA Arg1771Cys R1771C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DACT2 Glu704Lys E704K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - THBS2 Thr25Met T25M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF70 Thr86Asn T86N not reviewed Insufficiently evaluated not reviewed unknown Array rs61735516 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM120B Glu519Gln E519Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - CHST12 Gly164Arg G164R not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NM_001099942 Ala81Val A81V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQCE His101Asn H101N not reviewed Insufficiently evaluated not reviewed unknown Array rs11976972 152 10090 0.0150644 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - SDK1 Ala2028Val A2028V not reviewed Insufficiently evaluated not reviewed unknown Array rs7798643 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBAK Val56Ile V56I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.093 - - -4 - 0 N - - TNRC18 Ala2604Thr A2604T not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OCM Asn42Ser N42S not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF12 Met236Thr M236T not reviewed Insufficiently evaluated not reviewed unknown Array rs61731529 131 10196 0.0128482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL28A1 Thr903Asn T903N not reviewed Insufficiently evaluated not reviewed unknown Array 94 9944 0.00945294 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.734 - - 1 - 1 N - - SCIN Pro154Ala P154A not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.622 - - 2 - 1 N - - ABCB5 Gln905His Q905H not reviewed Insufficiently evaluated not reviewed unknown Array rs35885925 248 10758 0.0230526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH11 Leu4181Arg L4181R not reviewed Insufficiently evaluated not reviewed unknown Array 26 9906 0.00262467 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - EVX1 Val86Leu V86L not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CRHR2 Ala388Asp A388D not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 5 Y 2 N - - NPC1L1 Ala310Ser A310S not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX56 Gln394Arg Q394R not reviewed Insufficiently evaluated not reviewed unknown Array 161 10756 0.0149684 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNS3 Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10300 0.00174757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - PKD1L1 Ala1769Thr A1769T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AUTS2 Lys683Gln K683Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - CLIP2 Asp968His D968H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.379 - - 3 - 1 N - - STYXL1 Pro311Ala P311A not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PCLO Arg1756His R1756H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10034 0.000697628 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCLO Glu1223Asp E1223D not reviewed Insufficiently evaluated not reviewed unknown Array rs10235352 147 9428 0.0155919 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP9 Glu3219Gln E3219Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKIB1 Asp1013Gly D1013G not reviewed Insufficiently evaluated not reviewed unknown Array 2 9948 0.000201045 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 4 Y 1 N - - PON3 Gly2Glu G2E not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BAIAP2L1 Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - FAM200A Cys415Tyr C415Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73713509 33 7228 0.00456558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 6 Y 2 N - - ZKSCAN1 Thr484Arg T484R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 3 - 2 N - - C7ORF59 Ile97Leu I97L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EPHB4 Ala882Thr A882T not reviewed Insufficiently evaluated not reviewed unknown Array rs34918225 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 1 N - - MUC17 Thr1945Ser T1945S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 Thr2808Arg T2808R not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Pro3381Ser P3381S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXL13 Ile535Val I535V not reviewed Insufficiently evaluated not reviewed unknown Array rs17135873 152 10742 0.0141501 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DPY19L2P2 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORC5 Lys52Asn K52N not reviewed Insufficiently evaluated not reviewed unknown Array rs2307413 174 10750 0.016186 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYPL1 Gly16Asp G16D not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - PTPRZ1 Glu909Gly E909G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NUP205 Asn998Ser N998S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP205 Ala1052Val A1052V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - KIAA1549 Val417Ile V417I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736034 57 10198 0.00558933 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1549 Thr325Ala T325A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10404 0.00278739 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGK His248Pro H248P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - CLEC5A Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array rs35942193 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - EPHB6 Asn487Lys N487K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR6V1 Arg129Cys R129C not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - ZNF777 GluArg606AspCys ER606DC not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRBA1 Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10284 0.0012641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRBA1 His181Arg H181R not reviewed Insufficiently evaluated not reviewed unknown Array 14 9538 0.00146781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNT11 Glu88Asp E88D not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPRN2 Val84Gly V84G not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 8 Y 0 N - - MTUS1 Ser585Arg S585R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - PCM1 Ser600Pro S600P not reviewed Insufficiently evaluated not reviewed unknown Array rs34325017 31 9840 0.00315041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCM1 Val1852Ala V1852A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - 2 - 0 N - - SH2D4A Lys303Arg K303R not reviewed Insufficiently evaluated not reviewed unknown Array rs35319139 284 10758 0.026399 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - CDCA2 Lys284Glu K284E not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FZD3 Arg616Gln R616Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - IDO2 Leu148Val L148V not reviewed Insufficiently evaluated not reviewed unknown Array 297 9720 0.0305556 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PXDNL Asp1342Ala D1342A not reviewed Insufficiently evaluated not reviewed unknown Array 78 9446 0.00825746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - PXDNL Gln1172Leu Q1172L not reviewed Insufficiently evaluated not reviewed unknown Array 5 9508 0.000525872 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - 5 Y 1 N - - PXDNL Ala1133Val A1133V not reviewed Insufficiently evaluated not reviewed unknown Array 213 9734 0.0218821 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TGS1 Arg466Gln R466Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAM1 Asn144Asp N144D not reviewed Insufficiently evaluated not reviewed unknown Array rs34159261 148 10758 0.0137572 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - TMEM70 Asn228Lys N228K not reviewed Insufficiently evaluated not reviewed unknown Array rs35564486 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - JPH1 Asn495Lys N495K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - FABP9 Pro39Leu P39L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ATP6V0D2 Glu295Lys E295K not reviewed Insufficiently evaluated not reviewed unknown Array rs4263741 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 0 - 0 N - - DPYS Arg181Gln R181Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 0 - 1 N - - LRP12 Asn423Ser N423S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - NOV Cys15Phe C15F not reviewed Insufficiently evaluated not reviewed unknown Array rs35712802 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.923 - - 4 Y 2 N - - FBXO32 Arg302Gln R302Q not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - TOP1MT Thr475Met T475M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.636 - - 2 - 1 N - - SCRIB Arg1355Trp R1355W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10676 0.000187336 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - EPPK1 Ala1976Val A1976V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GLIS3 Val697Met V697M not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ERMP1 Leu432Val L432V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MPDZ Ser1476Arg S1476R not reviewed Insufficiently evaluated not reviewed unknown Array 5 9678 0.000516635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF93 Glu619Gln E619Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DENND4C Val938Gly V938G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLAA Ile356Met I356M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - LINGO2 Thr259Ala T259A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - NOL6 Arg110Trp R110W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - NOL6 Pro52Ser P52S not reviewed Insufficiently evaluated not reviewed unknown Array rs10971523 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.933 - - 3 - 2 N - - FBXO10 Arg855Gln R855Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGFBPL1 ProAspAsp274Ser PDD274S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD18A Ile969Val I969V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - -4 - 1 N - - TJP2 Arg493Lys R493K not reviewed Insufficiently evaluated not reviewed unknown Array rs41277901 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.018 Y - -3 - 1 N - - TRPM6 Gln1274Arg Q1274R not reviewed Insufficiently evaluated not reviewed unknown Array rs34608911 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.937 Y - 0 - 3 N - - PRUNE2 Glu2570Ala E2570A not reviewed Insufficiently evaluated not reviewed unknown Array 64 7820 0.00818414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRUNE2 Met501Val M501V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF79 Pro224Ser P224S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IARS Glu317Gly E317G not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBP1 Met289Leu M289L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - C9ORF3 Arg709Gly R709G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCRNA00092 Leu80Phe L80F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D2 Arg286Cys R286C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.696 - - 8 Y 1 N - - OR13C4 Phe220Ser F220S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - OR13C8 AlaHis19AspTyr AH19DY not reviewed Insufficiently evaluated not reviewed unknown Array rs7026705 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR13C2 Ser229Arg S229R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR13C9 Phe94Leu F94L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NIPSNAP3B Tyr37Phe Y37F not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 2 N - - PSMD5 Ala31Gly A31G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10744 0.00018615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 1 - 0 N - - ANGPTL2 Asp269Asn D269N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CERCAM Pro575Thr P575T not reviewed Insufficiently evaluated not reviewed unknown Array rs1046307 64 10718 0.00597126 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - SURF6 Glu89Lys E89K not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - SURF6 Arg81Ser R81S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 3 - 2 N - - C9ORF96 Ser438Arg S438R not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BRD3 Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - SNAPC4 ProVal789Leu PV789L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LCN10 Arg144His R144H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10754 0.00623024 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LCN15 Gly7Ser G7S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - KIAA1984 Ser475Leu S475L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10228 0.00332421 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.913 - - 6 Y 2 N - - MAMDC4 Thr132Ile T132I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10744 0.00558451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - TANK Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPRN Leu52Pro L52P not reviewed Insufficiently evaluated not reviewed unknown Array rs60910563 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR85 Pro292Ala P292A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - C9ORF37 Pro75Leu P75L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EHMT1 Leu471Met L471M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.074 Y - -3 - 1 N - - MXRA5 Thr1484Ala T1484A not reviewed Insufficiently evaluated not reviewed unknown Array rs12396910 98 8761 0.0111859 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - WWC3 Tyr712Cys Y712C not reviewed Insufficiently evaluated not reviewed unknown Array 18 8761 0.00205456 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLCN4 Thr558Ala T558A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - MOSPD2 Asp403Val D403V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ASB11 Asn92Lys N92K not reviewed Insufficiently evaluated not reviewed unknown Array 94 8761 0.0107294 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - PDHA1 Glu333Asp E333D not reviewed Insufficiently evaluated not reviewed unknown Array rs2228067 11 8761 0.00125556 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CNKSR2 Ala636Glu A636E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZNF645 Arg403Trp R403W not reviewed Insufficiently evaluated not reviewed unknown Array 30 8761 0.00342427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM47C Glu333Asp E333D not reviewed Insufficiently evaluated not reviewed unknown Array 41 8758 0.00468143 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.16 - - -2 - 0 N - - ZNF674 Thr343Met T343M not reviewed Insufficiently evaluated not reviewed unknown Array rs61730637 250 7902 0.0316376 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PHF16 Val225Ile V225I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF41 Asp142Asn D142N not reviewed Insufficiently evaluated not reviewed unknown Array 4 8761 0.000456568 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SSX1 Met40Ile M40I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - SLC38A5 Ile174Leu I174L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - CYLC1 Lys198Asn K198N not reviewed Insufficiently evaluated not reviewed unknown Array 1 8645 0.000115673 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001127438 Lys31Glu K31E not reviewed Insufficiently evaluated not reviewed unknown Array 4 92 0.0434783 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCEAL5 Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs6621640 2 87 0.0229885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - GLRA4 Arg112His R112H not reviewed Insufficiently evaluated not reviewed unknown Array rs61749967 3 92 0.0326087 4 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL4A6 Asn963Ile N963I not reviewed Insufficiently evaluated not reviewed unknown Array 40 8761 0.00456569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IRS4 Val400Ile V400I not reviewed Insufficiently evaluated not reviewed unknown Array 104 8761 0.0118708 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1210 Glu59Gly E59G not reviewed Insufficiently evaluated not reviewed unknown Array 14 8170 0.00171359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RHOXF1 Glu138Lys E138K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - GLUD2 Arg60Leu R60L not reviewed Insufficiently evaluated not reviewed unknown Array 18 8759 0.00205503 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 6 Y 0 N - - SMARCA1 Pro780Leu P780L not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - ARHGEF6 Gln297His Q297H not reviewed Insufficiently evaluated not reviewed unknown Array rs5974620 99 8759 0.0113027 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - -1 - 3 N - - MAGEA3 Gly263Ser G263S not reviewed Insufficiently evaluated not reviewed unknown Array 5 8754 0.000571167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 2 - 1 N - - TREX2 Asp46Asn D46N not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDZD4 Phe697Leu F697L not reviewed Insufficiently evaluated not reviewed unknown Array 26 8761 0.0029677 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - 0 - 1 N - - PDZD4 Gln190Arg Q190R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - RENBP Gln159Arg Q159R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229241 3 92 0.0326087 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - G6PD Val98Met V98M not reviewed Insufficiently evaluated not reviewed unknown Array rs1050828 357 8761 0.0407488 4 0 6 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - H6PD Gly227Ser G227S not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 2 - 3 N - - CTRC Pro23Leu P23L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 7 Y 1 N - - EPS15 Tyr22Shift Y22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ECHDC2 Trp11Stop W11X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10118 0.000691836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1ORF177 Arg156Stop R156X not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1ORF168 Met385Shift M385Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BCL10 Leu174Stop L174X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG Ser1836Ala S1836A not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - KPRP Stop580Shift X580Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR10K1 Ile246Shift I246Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RXRG Asn123Shift N123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RC3H1 Gln134Stop Q134X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CACNA1S Tyr299His Y299H not reviewed Insufficiently evaluated not reviewed unknown Array rs35856559 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CHIT1 Arg35Shift R35Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - BTG2 Gln33Stop Q33X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USH2A Ile4295Val I4295V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.834 Y Y -4 - 3 N - - LYST Ser1120Ile S1120I not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.024 Y Y 5 Y 2 N - - RYR2 Arg1144Gln R1144Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OR2G6 Leu276Shift L276Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDH23 Val1190Ile V1190I not reviewed Insufficiently evaluated not reviewed unknown Array 95 9980 0.00951904 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - BC047942 Ala99Shift A99Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 48 0.0416667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR51I1 Gln235Shift Q235Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UBQLNL Gln305Stop Q305X not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR2D2 Lys270Shift K270Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10566026 5 128 0.0390625 6 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYBPC3 Asn515Ser N515S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10626 0.000188217 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DQ893983 Arg84Stop R84X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC22A25 Asp118Shift D118Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATM Pro2588Ser P2588S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MLL Ser3827Shift S3827Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SNX19 Lys604Shift K604Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1C Thr1835Met T1835M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10184 0.00363315 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y Y 2 - 2 N - - CACNA1C Gly1843Arg G1843R not reviewed Insufficiently evaluated not reviewed unknown Array 153 10082 0.0151756 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HIGD1C Arg63Shift R63Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT6A Ile486Val I486V not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.061 Y Y -4 - 2 N - - KRT6A Ser19Asn S19N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10694 0.00243127 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BBS10 Asn544Ser N544S not reviewed Insufficiently evaluated not reviewed unknown Array rs34737974 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.975 Y Y 0 - 4 N - - LRRIQ1 Ser926Shift S926Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OASL Lys179Shift K179Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GJB6 Asn113Lys N113K not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - B3GALTL Thr179Ser T179S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - BRCA2 Cys1290Tyr C1290Y not reviewed Insufficiently evaluated not reviewed unknown Array rs41293485 39 10566 0.00369108 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SPG20 Ala488Glu A488E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y 3 - 2 N - - TGM1 Ser82Phe S82F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.508 Y Y 5 Y 3 N - - VSX2 Asp54Glu D54E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747367 18 8642 0.00208285 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.038 Y Y -2 - 2 N - - VSX2 Glu341GluGlu E341EE not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TSHR Arg534Cys R534C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - SPTBN5 Gln3164Shift Q3164Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLA2G4E Gly36Shift G36Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs28736629 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCI Gln686Lys Q686K not reviewed Insufficiently evaluated not reviewed unknown Array rs28378332 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - AK309376 Gln103Shift Q103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSC2 Arg1706Cys R1706C not reviewed Insufficiently evaluated not reviewed unknown Array rs45517391 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.942 Y Y 8 Y 4 N - - MEFV Arg361Thr R361T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.509 Y Y 3 - 3 N - - NLRC3 Ala618Shift A618Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITGAD Ile728Shift I728Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AF452719 Thr207Shift T207Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR1E2 Ile243Shift I243Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACADVL Leu17Phe L17F not reviewed Insufficiently evaluated not reviewed unknown Array rs2230179 232 10710 0.021662 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MEIS3P1 Tyr188Stop Y188X not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC6A4 Leu222Pro L222P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - C17ORF67 Trp97Stop W97X not reviewed Insufficiently evaluated not reviewed unknown Array 17 10380 0.00163776 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCN4A Leu83Pro L83P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10250 0.00107317 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.975 Y Y 7 Y 4 N - - GAA Ser306Leu S306L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10750 0.00306977 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - LAMA3 Arg1118Ser R1118S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - LAMA3 Ala3217Thr A3217T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ZNF271 Asn43Shift N43Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR7D2 Leu250Shift L250Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MRPL4 Tyr309Stop Y309X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF493 Ala525Shift A525Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRKCG Cys636Shift C636Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ZNF497 Leu234Shift L234Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPAST His289Tyr H289Y not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.972 Y Y -1 - 4 N - - ALMS1 Thr1384Arg T1384R not reviewed Insufficiently evaluated not reviewed unknown Array 179 9634 0.01858 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ASTL Met428Shift M428Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11292169 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SULT1C2 Met296Shift M296Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LCT Gln1781Stop Q1781X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - PLA2R1 Gly1374Shift G1374Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN9A Lys1006Asn K1006N not reviewed Insufficiently evaluated not reviewed unknown Array 13 9472 0.00137247 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Met32216Leu M32216L not reviewed Insufficiently evaluated not reviewed unknown Array rs72629787 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Ile31358Val I31358V not reviewed Insufficiently evaluated not reviewed unknown Array rs56376197 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Arg21684Gln R21684Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ala21469Val A21469V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Arg21059Cys R21059C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ser6974Gly S6974G not reviewed Insufficiently evaluated not reviewed unknown Array rs72648980 22 9762 0.00225364 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Glu901Shift E901Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CPS1 Asn686Thr N686T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y 1 - 2 N - - BC157891 Leu509Shift L509Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL9A3 Gly295Arg G295R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 6 Y 4 N - - APP Thr276Ser T276S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL18A1 Arg261Trp R261W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TRIOBP Arg798Trp R798W not reviewed Insufficiently evaluated not reviewed unknown Array 103 10044 0.0102549 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 7 Y 3 N - - PLA2G6 Ala516Val A516V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10470 9.551e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.536 Y Y 2 - 3 N - - ATXN10 Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array rs35578543 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.068 Y Y 2 - 2 N - - FANCD2 Pro983Ala P983A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - VHL Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.08 Y Y -1 - 2 N - - RAF1 Pro308Leu P308L not reviewed Insufficiently evaluated not reviewed unknown Array rs5746220 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 7 Y 2 N - - XPC Thr169Met T169M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9908 0.000100928 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SCN5A Val1951Leu V1951L not reviewed Insufficiently evaluated not reviewed unknown Array rs41315493 1 128 0.0078125 1 0 1 1 1 1 Y - - 0 Y - - - - - - Y - - - - Y Y 0 - 3 N - - The rare variant SCN5A-V1951L does not appear to be a risk for cardiac arrhythmia in a case-control study. COL7A1 Val1438Ile V1438I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.161 Y Y -4 - 2 N - - CBLB Arg670Gln R670Q not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.882 Y Y 0 - 4 N - - LRRC34 Ser285Shift S285Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF718 Arg164Shift R164Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM175 Gln498Stop Q498X not reviewed Insufficiently evaluated not reviewed unknown Array 10 9170 0.00109051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EVC2 Arg955Trp R955W not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.982 Y - 7 Y 3 N - - FRAS1 Gly2229Arg G2229R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MANBA Arg474Trp R474W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.746 Y - 7 Y 2 N - - BDH2 Val141Shift V141Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAPD4 Leu156Shift L156Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAPD4 Gln158Shift Q158Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM81B Asn31Shift N31Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRPM2 Gly86Shift G86Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC26A2 Ile219Val I219V not reviewed Insufficiently evaluated not reviewed unknown Array rs35919114 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - BC032356 Arg26Shift R26Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs60961347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - NM_001004349 Trp3Stop W3X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL11A2 Val1619Ala V1619A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LYPLA2P1 His167Shift H167Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MOCS1 Glu201Gly E201G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - GUCA1A Arg40Cys R40C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.854 Y - 8 Y 3 N - - RIMS1 Ser1320Phe S1320F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.774 Y - 5 Y 2 N - - WISP3 Ser246Phe S246F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - SYNE1 Val3341Ala V3341A not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 2 - 2 N - - C6ORF118 Pro168Shift P168Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ELN Gly610Ser G610S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - SAMD9L Lys647Shift K647Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AJ005372 Tyr213Shift Y213Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11391917 2 108 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM67 Ser918Asn S918N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - VPS13B Gly2248Asp G2248D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 4 Y 4 N - - SLC30A8 Ser281Shift S281Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TG Asp2091Gly D2091G not reviewed Insufficiently evaluated not reviewed unknown Array rs61743198 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y - 4 Y 1 N - - C9ORF100 Leu66Shift L66Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PTCH1 Asp894Asn D894N not reviewed Insufficiently evaluated not reviewed unknown Array rs56173896 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.064 Y Y -1 - 2 N - - HABP4 Tyr330Shift Y330Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TGFBR1 Tyr291His Y291H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -1 - 4 N - - CYLC2 Asp314Shift D314Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC141829 Leu142Shift L142Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DMD Arg2108Cys R2108C not reviewed Insufficiently evaluated not reviewed unknown Array rs16990169 106 8754 0.0121087 4 0 6 0 0 - - - - - - - - - - - - Y - - - 0.144 Y Y 8 Y 2 N - - CACNA1F Ala1259Thr A1259T not reviewed Insufficiently evaluated not reviewed unknown Array rs34308720 60 8761 0.00684853 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CACNA1F Gly933Ser G933S not reviewed Insufficiently evaluated not reviewed unknown Array 5 8757 0.000570971 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FAM104B Gln109Stop Q109X not reviewed Insufficiently evaluated not reviewed unknown Array 32 8761 0.00365255 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SAMD11 Pro484Leu P484L not reviewed Insufficiently evaluated not reviewed unknown Array 88 10186 0.00863931 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - SCNN1D Arg125His R125H not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - C1ORF86 Ala115Ser A115S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10666 0.00253141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNFRSF14 Gly174Glu G174E not reviewed Insufficiently evaluated not reviewed unknown Array rs11573986 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TNFRSF14 Gly344Arg G344R not reviewed Insufficiently evaluated not reviewed unknown Array rs11573986 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEGF6 Arg224Gln R224Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12090611 98 10408 0.00941583 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - CCDC27 Trp356Arg W356R not reviewed Insufficiently evaluated not reviewed unknown Array 353 10690 0.0330215 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC2A7 Ile336Asn I336N not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.924 - - 7 Y 2 N - - EF570048 Gly61Val G61V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTCHD2 Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array 9 9674 0.000930328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF167 Ala741Val A741V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNFRSF1B Leu264Pro L264P not reviewed Insufficiently evaluated not reviewed unknown Array rs2229700 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - SPATA21 Ile53Leu I53L not reviewed Insufficiently evaluated not reviewed unknown Array rs12087671 98 10520 0.00931559 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -2 - 0 N - - KLHDC7A Gly337Ala G337A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10468 0.001624 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF17 Gly582Arg G582R not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSPG2 Thr2016Met T2016M not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - EPHA8 Arg537His R537H not reviewed Insufficiently evaluated not reviewed unknown Array rs61751024 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.867 - - 1 - 2 N - - EPHA8 Arg897Cys R897C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - C1QA Val152Ile V152I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASAP3 Val80Met V80M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GRHL3 Ala143Val A143V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAFAH2 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 1 - 2 N - - EXTL1 Leu435Pro L435P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCDC21 Ala547Val A547V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LIN28A Val171Glu V171E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - MECR Ala142Thr A142T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - GJB5 Val63Ile V63I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751879 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - -4 - 1 N - - DEM1 Met73Thr M73T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - C1ORF210 Leu14His L14H not reviewed Insufficiently evaluated not reviewed unknown Array 102 10756 0.00948308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIE1 Pro77Ser P77S not reviewed Insufficiently evaluated not reviewed unknown Array 82 10416 0.0078725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 3 - 0 N - - NASP Asn64Ser N64S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 0 - 1 N - - STIL Ser673Gly S673G not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - STIL Arg352His R352H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - SLC5A9 Leu400Arg L400R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRD1 Pro44Leu P44L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZCCHC11 Arg1350Gln R1350Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP8 Gly728Ala G728A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDCP2 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732057 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDCP2 Ser67Leu S67L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - C1ORF177 Arg100Trp R100W not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IFI44L Gly193Glu G193E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA4 Lys223Gln K223Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - VCAM1 Ala21Val A21V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A24 Met309Val M309V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - PSRC1 Val62Leu V62L not reviewed Insufficiently evaluated not reviewed unknown Array 63 10730 0.00587139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - 0 - 0 N - - ATXN7L2 Ser440Arg S440R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - 3 - 1 N - - GSTM4 Arg96His R96H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - 1 - 2 N - - EPS8L3 Asp94Glu D94E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - SLC16A1 Ile325Val I325V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC22A15 Val124Phe V124F not reviewed Insufficiently evaluated not reviewed unknown Array 29 9526 0.0030443 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - MAN1A2 His417Arg H417R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 1 - 1 N - - WDR3 Thr257Met T257M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PDE4DIP Asn13Ser N13S not reviewed Insufficiently evaluated not reviewed unknown Array rs3010980 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SEC22B Trp213Cys W213C not reviewed Insufficiently evaluated not reviewed unknown Array rs7534444 316 10076 0.0313617 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCL9 Gly1267Arg G1267R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTSL4 Pro195Leu P195L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.992 - - 7 Y 2 N - - ZNF687 Gln819His Q819H not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TCHHL1 Gly42Glu G42E not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.399 - - 6 Y 1 N - - CREB3L4 Arg124Lys R124K not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ADAR Ile335Phe I335F not reviewed Insufficiently evaluated not reviewed unknown Array rs34154757 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM189B Gly335Asp G335D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR10K2 Met288Ile M288I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - OR10K2 Ser93Pro S93P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 3 - 1 N - - OR10K1 Tyr310Cys Y310C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR10X1 Phe180Leu F180L not reviewed Insufficiently evaluated not reviewed unknown Array rs16840360 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DUSP23 Asp72Asn D72N not reviewed Insufficiently evaluated not reviewed unknown Array 41 9110 0.00450055 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PVRL4 Arg506Gln R506Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SELL Glu201Gln E201Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229568 20 8980 0.00222717 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - C1ORF112 Phe285Ser F285S not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIFAP3 Ser513Ala S513A not reviewed Insufficiently evaluated not reviewed unknown Array rs12075833 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - KLHL20 Val21Ile V21I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM5B Leu264Met L264M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.788 - - -3 - 1 N - - RGS16 Asp197Ala D197A not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF14 Ala44Ser A44S not reviewed Insufficiently evaluated not reviewed unknown Array 172 9124 0.0188514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM129A Ser766Asn S766N not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - C1ORF53 Lys136Arg K136R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9408 0.000106292 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LHX9 Asp238His D238H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR25 Gly321Ala G321A not reviewed Insufficiently evaluated not reviewed unknown Array 21 10476 0.00200458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - 1 - 1 N - - CR1 Gly2337Ser G2337S not reviewed Insufficiently evaluated not reviewed unknown Array rs61730889 157 9894 0.0158682 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001104548 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array 72 10742 0.00670266 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP2R5A Ile123Thr I123T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.204 - - 3 - 1 N - - VASH2 Ile204Leu I204L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTPN14 Ile924Val I924V not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CENPF Ser1015Pro S1015P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MARK1 Val530Met V530M not reviewed Insufficiently evaluated not reviewed unknown Array rs56212551 19 10758 0.00176613 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAF1A Ile98Met I98M not reviewed Insufficiently evaluated not reviewed unknown Array rs17163271 291 10754 0.0270597 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.318 - - -1 - 1 N - - OBSCN Gln4497Leu Q4497L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10248 0.0039032 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 5 Y 0 N - - NUP133 Gln406Trp Q406W not reviewed Insufficiently evaluated not reviewed unknown Array rs1065674 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CAPN9 Ser183Ile S183I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - C1ORF198 Lys306Arg K306R not reviewed Insufficiently evaluated not reviewed unknown Array rs35115679 115 10662 0.010786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NID1 Ser654Arg S654R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - NID1 Arg387His R387H not reviewed Insufficiently evaluated not reviewed unknown Array rs16833154 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.517 - - 1 - 1 N - - KIF26B Arg1977Trp R1977W not reviewed Insufficiently evaluated not reviewed unknown Array 18 9594 0.00187617 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SCCPDH Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.904 - - 1 - 2 N - - AHCTF1 Thr1442Ile T1442I not reviewed Insufficiently evaluated not reviewed unknown Array rs61734008 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR1C1 Ala67Val A67V not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.725 - - 2 - 1 N - - PITRM1 Thr731Met T731M not reviewed Insufficiently evaluated not reviewed unknown Array 34 9976 0.00340818 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - SFMBT2 Pro675Arg P675R not reviewed Insufficiently evaluated not reviewed unknown Array rs3740212 103 10758 0.00957427 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - ITIH2 Arg356Gln R356Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM171A1 Met402Thr M402T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.513 - - 2 - 1 N - - CUBN His2842Gln H2842Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CUBN Phe728Leu F728L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SVIL Tyr1440Phe Y1440F not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - KIAA1462 Asp1280Asn D1280N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741026 75 9842 0.0076204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - ANKRD30A Trp329Arg W329R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9570 0.000104493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD30A Leu609Trp L609W not reviewed Insufficiently evaluated not reviewed unknown Array rs41276130 702 9452 0.07427 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ANUBL1 Ser473Ala S473A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - -1 - 1 N - - C10ORF71 Gly541Asp G541D not reviewed Insufficiently evaluated not reviewed unknown Array 137 10132 0.0135215 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DKK1 Met16Leu M16L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10730 0.00382106 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FAM13C Glu403Gln E403Q not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C10ORF107 Ile202Thr I202T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX21 Val690Leu V690L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TACR2 Thr251Ala T251A not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1274 Ala648Thr A648T not reviewed Insufficiently evaluated not reviewed unknown Array rs61747986 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DUPD1 Glu57Lys E57K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.775 - - 0 - 1 N - - HTR7 Pro448Arg P448R not reviewed Insufficiently evaluated not reviewed unknown Array rs33954285 221 10758 0.0205429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - KIF11 Leu1042Phe L1042F not reviewed Insufficiently evaluated not reviewed unknown Array rs34417963 152 10758 0.014129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC6 Thr578Ile T578I not reviewed Insufficiently evaluated not reviewed unknown Array rs35647717 161 10740 0.0149907 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TLL2 Thr495Met T495M not reviewed Insufficiently evaluated not reviewed unknown Array rs41291628 192 10758 0.0178472 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RRP12 Gly1113Ser G1113S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - MMS19 Arg334His R334H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - C10ORF28 Ala402Val A402V not reviewed Insufficiently evaluated not reviewed unknown Array rs35200917 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KAZALD1 Arg256His R256H not reviewed Insufficiently evaluated not reviewed unknown Array rs36116329 101 10758 0.00938836 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - POLL Ile491Val I491V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -4 - 0 N - - POLL Thr221Pro T221P not reviewed Insufficiently evaluated not reviewed unknown Array rs3730463 856 10758 0.0795687 10 0 11 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - DPCD Pro71Ala P71A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.412 - - 2 - 1 N - - PPRC1 Ala1244Pro A1244P not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 2 - 1 N - - PSD Gly336Ser G336S not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC147 Lys351Glu K351E not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - CCDC147 Gln804His Q804H not reviewed Insufficiently evaluated not reviewed unknown Array rs7087328 404 10752 0.0375744 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.105 - - -1 - 0 N - - NRAP Ala1270Thr A1270T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PNLIPRP1 Arg208Gln R208Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - HSPA12A Thr15Met T15M not reviewed Insufficiently evaluated not reviewed unknown Array rs61738958 11 9844 0.00111743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNK18 Ala198Gly A198G not reviewed Insufficiently evaluated not reviewed unknown Array rs363359 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - FAM196A Gly226Arg G226R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLRN3 Asn46Ile N46I not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 7 Y 2 N - - INPP5A Pro396Ser P396S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10714 0.00102669 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - VENTX Gly108Asp G108D not reviewed Insufficiently evaluated not reviewed unknown Array 64 10754 0.00595127 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 4 Y 0 N - - TUBGCP2 Ala898Thr A898T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10484 0.00495994 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF511 Asp194Tyr D194Y not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 7 Y 1 N - - MTG1 Val323Ile V323I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PNPLA2 Ala413Thr A413T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10594 0.00188786 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.683 Y - 1 - 2 N - - MUC6 Val2170Met V2170M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10376 0.000192752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC2 Pro2037Leu P2037L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10204 0.000392003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A18 Val399Leu V399L not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - OR51E2 Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - OR51B5 Cys95Tyr C95Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61738484 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OR51Q1 Thr49Ser T49S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR51Q1 Gln85His Q85H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - -1 - 0 N - - OR51Q1 Arg265His R265H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - UBQLN3 Leu117His L117H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBQLNL Arg375Gln R375Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36020613 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - OR52E6 Leu229Arg L229R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - OR52E8 Asn94Asp N94D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - OR56A1 Ile78Thr I78T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR56B4 Leu160Pro L160P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 7 Y 2 N - - FAM160A2 Arg630Ser R630S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10530 0.0025641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNHD1 Asp317Gly D317G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.129 - - 4 Y 0 N - - AB290171 Pro809Ser P809S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCHS1 Pro199Arg P199R not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 5 Y 2 N - - GVINP1 His183Gln H183Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2AG1 Arg87Cys R87C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OR6A2 Val253Ala V253A not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.234 - - 2 - 1 N - - OR6A2 Ile79Val I79V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR10A5 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - OR10A5 Ala232Gly A232G not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.842 - - 1 - 1 N - - OR10A5 Trp262Arg W262R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR10A2 Tyr239Phe Y239F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.431 - - -4 - 1 N - - OR10A4 Tyr121Asn Y121N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 5 Y 2 N - - OR2D2 Pro182Ser P182S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF215 Trp31Cys W31C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF214 Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIC3 Tyr217Cys Y217C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ST5 Ser832Gly S832G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.323 - - 2 - 1 N - - DKK3 Ala338Val A338V not reviewed Insufficiently evaluated not reviewed unknown Array 167 10756 0.0155262 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAAL1 Gln317His Q317H not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANO5 Thr267Ser T267S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC156059 Ser1146Pro S1146P not reviewed Insufficiently evaluated not reviewed unknown Array rs55719241 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC156059 Lys942Arg K942R not reviewed Insufficiently evaluated not reviewed unknown Array rs34110661 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC156059 Ala879Thr A879T not reviewed Insufficiently evaluated not reviewed unknown Array rs61747656 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRP4 Ile1603Val I1603V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4A15 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4C11 Trp147Ser W147S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732335 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - OR4S2 Ser72Thr S72T not reviewed Insufficiently evaluated not reviewed unknown Array rs17146960 264 10294 0.025646 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 2 N - - OR4S2 Arg232Cys R232C not reviewed Insufficiently evaluated not reviewed unknown Array 379 10264 0.0369252 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - OR5AK2 Lys89Arg K89R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - APLNR Arg233His R233H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - MRPL16 Arg51Lys R51K not reviewed Insufficiently evaluated not reviewed unknown Array rs11550242 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - GIF Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 - - 7 Y 2 N - - MS4A14 Ala324Val A324V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - PGA5 Tyr237His Y237H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC22A8 Val281Ala V281A not reviewed Insufficiently evaluated not reviewed unknown Array rs45438191 182 10758 0.0169176 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC22A10 Ser218Tyr S218Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 9798 0.000204123 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC22A10 Ala252Val A252V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9862 0.000202798 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYT12 Pro267Ala P267A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 2 - 2 N - - FOLR3 Ala230Val A230V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FOLR2 Gly84Ser G84S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.057 - - 2 - 0 N - - FOLR2 Met86Ile M86I not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - PLEKHB1 Ser154Leu S154L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.288 - - 6 Y 1 N - - C2CD3 Arg1377Gln R1377Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - RNF169 Asp500Gly D500G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.374 - - 4 Y 1 N - - XRRA1 Arg547His R547H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10534 0.00560091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - UVRAG Pro16Leu P16L not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ODZ4 Arg2638Gln R2638Q not reviewed Insufficiently evaluated not reviewed unknown Array 95 10360 0.00916988 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.046 - - 0 - 0 N - - KDM4D Ser355Arg S355R not reviewed Insufficiently evaluated not reviewed unknown Array rs35631512 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - KDM4D Ala471Ser A471S not reviewed Insufficiently evaluated not reviewed unknown Array rs34366036 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MMP8 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP8 Gly97Asp G97D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 4 Y 0 N - - MMP10 Phe402Leu F402L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - DYNC2H1 Arg3618Cys R3618C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SIK3 Ala705Thr A705T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP164 Ala1404Val A1404V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD3E Ala108Val A108V not reviewed Insufficiently evaluated not reviewed unknown Array rs35299792 50 10758 0.0046477 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.068 Y - 2 - 1 N - - OR10G4 Phe177Leu F177L not reviewed Insufficiently evaluated not reviewed unknown Array rs3017764 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - OR10G9 Asp268Gly D268G not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.888 - - 4 Y 2 N - - OR10G8 Asn171Ser N171S not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - VWA5A Ser428Thr S428T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - -2 - 2 N - - OR8B12 Ser274Phe S274F not reviewed Insufficiently evaluated not reviewed unknown Array rs61745407 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - OR8B12 Asp120Gly D120G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - ARHGAP32 Ser1215Pro S1215P not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APLP2 GluGlu226Del EE226Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71750553 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAMTS15 Ser80Ala S80A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733898 3 126 0.0238095 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CACNA2D4 Ser616Leu S616L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 6 Y 1 N - - NDUFA9 Ile377Met I377M not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TAS2R14 Asn87Tyr N87Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - TAS2R20 Val70Gly V70G not reviewed Insufficiently evaluated not reviewed unknown Array 45 10690 0.00420954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 8 Y 0 N - - KIAA1467 Glu213Gly E213G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPS8 Arg519Cys R519C not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - LRMP Thr35Ser T35S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RASSF8 Val218Ile V218I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - -4 - 1 N - - IPO8 Glu627Gln E627Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - DDX11 His565Tyr H565Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12322122 232 10758 0.0215653 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - C12ORF35 Met582Thr M582T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GXYLT1 Ile301Thr I301T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - VDR Lys240Asn K240N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.989 Y - 1 - 3 N - - C12ORF41 Cys327Phe C327F not reviewed Insufficiently evaluated not reviewed unknown Array 3 9636 0.000311332 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAJC22 Arg148Cys R148C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NM_020941 Pro614Ala P614A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BCDIN3D Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - LIMA1 Met675Thr M675T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC11A2 Tyr62His Y62H not reviewed Insufficiently evaluated not reviewed unknown Array rs17222470 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSRNP2 Leu481Val L481V not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - FIGNL2 Ala585Gly A585G not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 1 N - - KRT86 Glu244Asp E244D not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - ESPL1 Arg596Gln R596Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - ESPL1 Arg1479Gly R1479G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - SILV Pro363Ser P363S not reviewed Insufficiently evaluated not reviewed unknown Array rs61752491 245 10758 0.0227737 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.305 - Y 3 - 2 N - - PTGES3 Lys25Arg K25R not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - NACA Lys1399Thr K1399T not reviewed Insufficiently evaluated not reviewed unknown Array 22 7786 0.00282558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACA Val725Met V725M not reviewed Insufficiently evaluated not reviewed unknown Array 22 7820 0.0028133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NACA Ser418Cys S418C not reviewed Insufficiently evaluated not reviewed unknown Array 20 7820 0.00255754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACA Pro77Leu P77L not reviewed Insufficiently evaluated not reviewed unknown Array 21 7820 0.00268542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSD17B6 Arg19Gly R19G not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.925 - - 6 Y 2 N - - SHMT2 Glu477Gly E477G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.282 - - 6 Y 1 N - - MBD6 Gly881Arg G881R not reviewed Insufficiently evaluated not reviewed unknown Array 76 10414 0.00729787 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - GNS Arg533His R533H not reviewed Insufficiently evaluated not reviewed unknown Array rs61743822 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.018 Y - 1 - 1 N - - PTPRB Met750Ile M750I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731914 112 9642 0.0116158 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TSPAN8 Val54Ile V54I not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - C12ORF50 Asn411Ser N411S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC070039 His51Arg H51R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FGD6 Lys46Gln K46Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - -2 - 2 N - - STAB2 Cys854Ser C854S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 3 - 2 N - - TCP11L2 Ile106Leu I106L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - SART3 Pro900Leu P900L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - SELPLG Pro245Thr P245T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CORO1C Asn144Ser N144S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - HVCN1 Glu55Del E55Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH2 Ile41Val I41V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - MAP1LC3B2 Arg69Lys R69K not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MAP1LC3B2 Glu117Val E117V not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - 5 Y 1 N - - TESC Val221Met V221M not reviewed Insufficiently evaluated not reviewed unknown Array 24 9888 0.00242718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC60 Thr370Asn T370N not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.706 - - 1 - 1 N - - CCDC60 Gly398Asp G398D not reviewed Insufficiently evaluated not reviewed unknown Array 387 10758 0.0359732 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - COQ5 Ser31Thr S31T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - -2 - 0 N - - WDR66 Ser816Asn S816N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9856 0.000101461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX37 Lys508Asn K508N not reviewed Insufficiently evaluated not reviewed unknown Array rs35165507 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - PARP4 Arg1278Cys R1278C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - POLR1D Arg109Gln R109Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSPH1 Pro558Ser P558S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STARD13 Pro1008Ser P1008S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - AK057244 Thr540Ala T540A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 1 - 2 N - - AK057244 Tyr139His Y139H not reviewed Insufficiently evaluated not reviewed unknown Array rs28548352 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPERT Met330Thr M330T not reviewed Insufficiently evaluated not reviewed unknown Array 15 9856 0.00152191 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - HTR2A Ile197Val I197V not reviewed Insufficiently evaluated not reviewed unknown Array rs6304 251 10758 0.0233315 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.553 - - -4 - 1 N - - CYSLTR2 Tyr61Phe Y61F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -4 - 0 N - - ALG11 Asn58Ile N58I not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - ALG11 Asn108Ser N108S not reviewed Insufficiently evaluated not reviewed unknown Array rs17480245 96 10756 0.00892525 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK5 Lys617Asn K617N not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 1 - 0 N - - HNRNPA1L2 Val45Leu V45L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10734 0.0039128 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - 0 - 1 N - - HNRNPA1L2 Val109Ile V109I not reviewed Insufficiently evaluated not reviewed unknown Array 9 6562 0.00137153 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.619 - - -4 - 1 N - - MYCBP2 Arg2844His R2844H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 1 - 2 N - - MYCBP2 Leu841Phe L841F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - ABCC4 Ile625Met I625M not reviewed Insufficiently evaluated not reviewed unknown Array rs11568699 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGGT2 Tyr1285Phe Y1285F not reviewed Insufficiently evaluated not reviewed unknown Array rs35123499 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -4 - 2 N - - UGGT2 Thr255Ala T255A not reviewed Insufficiently evaluated not reviewed unknown Array rs73562939 243 10754 0.0225962 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.588 - - 1 - 1 N - - FARP1 Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array rs9300466 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - SLC15A1 Gln229His Q229H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - A2LD1 Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array rs61747479 27 3232 0.00835396 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.116 - - 7 Y 0 N - - AK055145 His68Asp H68D not reviewed Insufficiently evaluated not reviewed unknown Array rs74131186 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK055145 Thr122Ala T122A not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMCO3 His36Gln H36Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - ZNF828 Ala220Pro A220P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4K13 Val47Met V47M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - PNP Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.069 Y - -4 - 1 N - - OR5AU1 Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - SALL2 Leu208Met L208M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR10G2 Leu149Phe L149F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - 0 - 1 N - - BC032242 Glu4Val E4V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PSMB11 Glu275Gly E275G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC153822 Arg90Gln R90Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HOMEZ Asp545Del D545Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3208861 14 36 0.388889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - ZFHX2 Pro1320Leu P1320L not reviewed Insufficiently evaluated not reviewed unknown Array rs61733356 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LRRC16B Arg1359Trp R1359W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - PCK2 Asp64Asn D64N not reviewed Insufficiently evaluated not reviewed unknown Array rs10132601 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - C14ORF23 Ile73Leu I73L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP6 Leu1147Arg L1147R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - KIAA0391 His492Arg H492R not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTC6 Ser88Thr S88T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - NIN Gly681Arg G681R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - KTN1 Glu667Gln E667Q not reviewed Insufficiently evaluated not reviewed unknown Array 56 10754 0.00520736 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 1 N - - KTN1 Ser1058Cys S1058C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.087 - - 3 - 0 N - - NAA30 Glu174Gly E174G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10696 0.000373971 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 6 Y 0 N - - C14ORF135 Arg371Gln R371Q not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MPP5 Ile256Met I256M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - -1 - 0 N - - AK126770 Gly92Trp G92W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC8A3 Asp191Gly D191G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.79 - - 4 Y 1 N - - HEATR4 Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - COQ6 Gly93Asp G93D not reviewed Insufficiently evaluated not reviewed unknown Array rs61743864 208 10758 0.0193344 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.669 - - 4 Y 1 N - - ABCD4 Ala4Pro A4P not reviewed Insufficiently evaluated not reviewed unknown Array 85 10732 0.00792024 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCK1 Val398Ile V398I not reviewed Insufficiently evaluated not reviewed unknown Array rs34740100 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPR68 Leu284Phe L284F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINA11 Leu196Phe L196F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - DLK1 Val145Leu V145L not reviewed Insufficiently evaluated not reviewed unknown Array 175 10754 0.016273 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DYNC1H1 Ala4384Val A4384V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF839 Arg565Gln R565Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 9936 0.00140902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF839 Thr662Met T662M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TECPR2 Pro838Leu P838L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TRMT61A Val174Met V174M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF2 Ile9Leu I9L not reviewed Insufficiently evaluated not reviewed unknown Array rs1053419 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK2 Thr3923Ile T3923I not reviewed Insufficiently evaluated not reviewed unknown Array 90 9800 0.00918367 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 3 - 0 N - - AHNAK2 Lys1840Arg K1840R not reviewed Insufficiently evaluated not reviewed unknown Array rs2582510 56 9778 0.00572714 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - -3 - 2 N - - JAG2 Ser20Phe S20F not reviewed Insufficiently evaluated not reviewed unknown Array rs61750260 412 10752 0.0383185 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CR619482 Thr36Ser T36S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AJ004954 Tyr52Cys Y52C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - NDNL2 Asn255Ile N255I not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 7 Y 1 N - - TJP1 Lys1005Thr K1005T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - C15ORF55 Ser528Ala S528A not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C15ORF55 Pro560Leu P560L not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CASC5 Val771Ile V771I not reviewed Insufficiently evaluated not reviewed unknown Array 12 9734 0.00123279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VPS18 Arg673His R673H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 1 - 2 N - - RPAP1 Gln205Lys Q205K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - MGA Leu2636Phe L2636F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP1A Arg2472Pro R2472P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - USP8 Arg483Gln R483Q not reviewed Insufficiently evaluated not reviewed unknown Array 48 10756 0.00446262 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.545 - - 0 - 1 N - - RFX7 Thr443Ala T443A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CGNL1 Leu309Ser L309S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - GCOM1 Glu289Asp E289D not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VPS13C Thr766Asn T766N not reviewed Insufficiently evaluated not reviewed unknown Array 124 10752 0.0115327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIF1 Arg294Trp R294W not reviewed Insufficiently evaluated not reviewed unknown Array 46 10738 0.00428385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 7 Y 1 N - - CILP Thr49Ile T49I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITGA11 Arg463Gln R463Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729766 42 10314 0.00407213 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.584 - - 0 - 1 N - - NOX5 Arg741Gly R741G not reviewed Insufficiently evaluated not reviewed unknown Array rs7168025 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR2E3 Val366Met V366M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ADPGK Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - C15ORF39 Arg1029Lys R1029K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SNX33 Pro152Ser P152S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXO22 Gly338Arg G338R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCAPER Met738Val M738V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.582 - - 0 - 1 N - - PSTPIP1 Ser267Gly S267G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10366 0.00144704 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - WHAMM Leu310Val L310V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9494 0.000105329 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 0 - 1 N - - FES Asp528Asn D528N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDIA2 Pro153Ala P153A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10102 0.00029697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 2 - 0 N - - WFIKKN1 Asn544Ser N544S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10532 9.4948e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - RHOT2 Ile134Met I134M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10754 0.000929886 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - AX748261 Ala116Val A116V not reviewed Insufficiently evaluated not reviewed unknown Array rs60087715 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZG16B Gly48Cys G48C not reviewed Insufficiently evaluated not reviewed unknown Array 85 10128 0.00839258 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.263 - - 7 Y 1 N - - HMOX2 Thr286Ile T286I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF89 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array rs35089772 18 9956 0.00180795 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MKL2 Glu987Lys E987K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BFAR Val251Met V251M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - NOMO1 Asn490Asp N490D not reviewed Insufficiently evaluated not reviewed unknown Array 107 10740 0.00996276 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NOMO1 Met493Val M493V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10738 0.000558763 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NDE1 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - TMC7 Thr351Ile T351I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 3 - 2 N - - NM_014711 Lys52Thr K52T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - C16ORF88 Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10580 9.4517e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IQCK Thr47Ala T47A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10676 0.00140502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AK292594 Gln535Lys Q535K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746707 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK292594 Pro257Ser P257S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740592 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCNN1B Thr594Met T594M not reviewed Insufficiently evaluated not reviewed unknown Array rs1799979 107 10744 0.00995905 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.029 Y - 2 - 1 N - - C16ORF82 His169Asn H169N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD26P1 Arg290Gly R290G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IRX6 Ala276Ser A276S not reviewed Insufficiently evaluated not reviewed unknown Array rs61742379 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - ARL2BP Leu40Phe L40F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.624 - - 0 - 1 N - - CMTM1 Arg265Lys R265K not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DPEP3 Gly158Ser G158S not reviewed Insufficiently evaluated not reviewed unknown Array rs7189697 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AARS Glu22Lys E22K not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COG4 Phe632Leu F632L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYDIN Arg1609Gln R1609Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 9026 0.000664746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.269 - - 0 - 1 N - - CALB2 Gly54Val G54V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 8 Y 1 N - - PKD1L2 Ser261Gly S261G not reviewed Insufficiently evaluated not reviewed unknown Array 50 10010 0.004995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM92B Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ZNF469 Ala2059Thr A2059T not reviewed Insufficiently evaluated not reviewed unknown Array 2 3132 0.000638569 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - 1 - 1 N - - ZNF469 Glu3026Ala E3026A not reviewed Insufficiently evaluated not reviewed unknown Array 4 3230 0.00123839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - ZNF469 Pro3463Arg P3463R not reviewed Insufficiently evaluated not reviewed unknown Array 4 3230 0.00123839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 5 Y 1 N - - ZNF469 His3774Gln H3774Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYBA Val76Met V76M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.706 Y - 0 - 2 N - - C16ORF3 Ile52Ala I52A not reviewed Insufficiently evaluated not reviewed unknown Array rs55742939 4 88 0.0454545 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - METT10D Leu120Val L120V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - KIAA0664 Gln1043Glu Q1043E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - OR1E2 Val153Leu V153L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1E2 Ser152Ala S152A not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZZEF1 Lys427Arg K427R not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFP3 Arg86Gly R86G not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF594 Asn414Ser N414S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10226 0.00166243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.287 - - 0 - 1 N - - XAF1 Met123Thr M123T not reviewed Insufficiently evaluated not reviewed unknown Array rs35205123 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 2 - 1 N - - NEURL4 Ala240Thr A240T not reviewed Insufficiently evaluated not reviewed unknown Array 27 9956 0.00271193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ACAP1 Thr306Asn T306N not reviewed Insufficiently evaluated not reviewed unknown Array rs35144635 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CNTROB Ile123Leu I123L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYH13 Pro568Thr P568T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - MYH8 Val1822Ile V1822I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - -4 - 1 N - - MYH1 Arg675Trp R675W not reviewed Insufficiently evaluated not reviewed unknown Array 25 10752 0.00232515 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - MYH1 Val70Ile V70I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MYH3 Asp555Glu D555E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - DNAH9 Ala1557Ser A1557S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - -1 - 0 N - - MEIS3P1 Ser227Thr S227T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - TOP3A Asn773Asp N773D not reviewed Insufficiently evaluated not reviewed unknown Array rs9911283 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - -1 - 1 N - - SHMT1 Glu340Gln E340Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7215148 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC026998 Arg80Gln R80Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXW10 Lys698Thr K698T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.575 - - 3 - 1 N - - B9D1 Pro130Arg P130R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VTN Arg268Gln R268Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2227723 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.427 - - 0 - 1 N - - CCL2 Ile69Val I69V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM132E Arg488Trp R488W not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF830 Pro10Ser P10S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - SLFN13 Met501Thr M501T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - CCL23 Arg109Leu R109L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDK12 Asn1230Lys N1230K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RARA Thr43Ser T43S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10756 0.00641502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRT26 Arg15Gln R15Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT27 Ile316Val I316V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - -4 - 2 N - - KRTAP4-3 Asp12Tyr D12Y not reviewed Insufficiently evaluated not reviewed unknown Array 57 10728 0.0053132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT32 Arg32Trp R32W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - GAST Arg3Gln R3Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34309618 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 Y - 0 - 3 N - - HAP1 Arg525Cys R525C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TTC25 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10204 0.000490003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AOC2 Val67Ala V67A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.584 - - 2 - 1 N - - TMEM101 Ile116Ser I116S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.604 - - 5 Y 1 N - - CDK5RAP3 Asp282Asn D282N not reviewed Insufficiently evaluated not reviewed unknown Array rs34460325 17 9902 0.00171682 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - XYLT2 Val675Met V675M not reviewed Insufficiently evaluated not reviewed unknown Array 57 10754 0.00530035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EME1 Val347Ile V347I not reviewed Insufficiently evaluated not reviewed unknown Array rs7222520 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - -4 - 1 N - - KIF2B Arg165Gln R165Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - BZRAP1 Ala519Thr A519T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - 1 - 1 N - - MAP3K3 Ser509Phe S509F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TEX2 Gln80Pro Q80P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 4 Y 0 N - - LRRC37A3 Thr1593Met T1593M not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 2 N - - RGS9 Gly544Arg G544R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10070 0.00377358 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIF19 Arg397Trp R397W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10742 0.00214113 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 7 Y 2 N - - CD300C Asp167Gly D167G not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 4 Y 1 N - - TMEM104 Tyr163Cys Y163C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - FADS6 Phe225Tyr F225Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 10018 0.00199641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SRP68 Asn497Asp N497D not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SRP68 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 1 N - - QRICH2 Trp456Arg W456R not reviewed Insufficiently evaluated not reviewed unknown Array rs11869057 524 10758 0.0487079 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ST6GALNAC2 Arg164Ser R164S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - CANT1 Ala323Thr A323T not reviewed Insufficiently evaluated not reviewed unknown Array rs9903215 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CCDC40 Ile407Thr I407T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10462 0.00305869 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 3 - 1 N - - CARD14 Asn237His N237H not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - RNF213 Pro437Ser P437S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF213 Val52Met V52M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AATK Pro884Leu P884L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738824 156 10172 0.0153362 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AZI1 Gln68Arg Q68R not reviewed Insufficiently evaluated not reviewed unknown Array 313 10758 0.0290946 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF56 Thr453Lys T453K not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF56 Pro398Ala P398A not reviewed Insufficiently evaluated not reviewed unknown Array 135 10682 0.0126381 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOTUM Asp407Asn D407N not reviewed Insufficiently evaluated not reviewed unknown Array 3 112 0.0267857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CD7 His94Arg H94R not reviewed Insufficiently evaluated not reviewed unknown Array rs34579511 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD7 Thr113Ala T113A not reviewed Insufficiently evaluated not reviewed unknown Array rs34579511 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEXDC Cys485Tyr C485Y not reviewed Insufficiently evaluated not reviewed unknown Array 33 10020 0.00329341 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HEXDC Ala509Glu A509E not reviewed Insufficiently evaluated not reviewed unknown Array 31 9670 0.00320579 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXK2 Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPB41L3 Asn680Ser N680S not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - PTPRM Leu654Gln L654Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MPPE1 Leu358Val L358V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP192 Asn1287Ser N1287S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739369 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.133 - - 0 - 0 N - - ROCK1 Thr347Met T347M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - 2 - 1 N - - DSG1 Gly687Arg G687R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZSCAN30 Ser370Pro S370P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.65 - - 3 - 1 N - - LOXHD1 Met1482Ile M1482I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALPK2 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array 168 10604 0.0158431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - CD226 Val208Ile V208I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CR618658 Val399Met V399M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - MIER2 Gln257Pro Q257P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - KLK10 Cys202Tyr C202Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARID3A Arg494Gln R494Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - MIDN Pro210Arg P210R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - FAM108A1 Leu159Arg L159R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OAZ1 Arg32Leu R32L not reviewed Insufficiently evaluated not reviewed unknown Array rs4667 197 10256 0.0192083 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C19ORF29 Lys78Arg K78R not reviewed Insufficiently evaluated not reviewed unknown Array 26 9946 0.00261412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLIN4 Val998Ile V998I not reviewed Insufficiently evaluated not reviewed unknown Array rs73540169 288 10040 0.0286853 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - PLIN4 Met404Val M404V not reviewed Insufficiently evaluated not reviewed unknown Array 134 9368 0.014304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Gln240His Q240H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10408 0.000576479 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - DPP9 Ile738Val I738V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UHRF1 Gly636Asp G636D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10106 0.00197902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC25A41 Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 14 9730 0.00143885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - CLEC4G Gly11Ser G11S not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - MAP2K7 Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array 7 9654 0.000725088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Ala8783Gly A8783G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10016 0.000399361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR7D2 Thr197Met T197M not reviewed Insufficiently evaluated not reviewed unknown Array rs13345452 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.921 - - 2 - 2 N - - DNMT1 Leu293Val L293V not reviewed Insufficiently evaluated not reviewed unknown Array rs61758430 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - KEAP1 Ala184Ser A184S not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - -1 - 1 N - - DOCK6 Asp1719Glu D1719E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_018687 Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array 11 9896 0.00111156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF653 AlaGlyIle384Del AGI384Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF443 Pro196Ser P196S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10750 0.00176744 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - ZNF443 Gly101Ser G101S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CCDC130 Leu159His L159H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 6 Y 1 N - - CC2D1A Gly6Arg G6R not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - 6 Y 2 N - - MED26 Ser248Leu S248L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - MAST3 Val568Ile V568I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10292 0.00223475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KIAA1683 Arg81Cys R81C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GMIP Pro798Ser P798S not reviewed Insufficiently evaluated not reviewed unknown Array 70 10578 0.00661751 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF506 Glu345Asp E345D not reviewed Insufficiently evaluated not reviewed unknown Array 79 10650 0.00741784 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.627 - - -2 - 1 N - - ZNF93 Cys542Arg C542R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10740 0.00372439 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF85 Thr46Val T46V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF85 Lys60Thr K60T not reviewed Insufficiently evaluated not reviewed unknown Array rs7254311 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF208 Tyr1041His Y1041H not reviewed Insufficiently evaluated not reviewed unknown Array 23 10286 0.00223605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.68 - - -1 - 1 N - - ZNF208 Ala725Gly A725G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10424 0.00230238 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.345 - - 1 - 1 N - - ZNF257 Tyr145Cys Y145C not reviewed Insufficiently evaluated not reviewed unknown Array 31 10682 0.00290208 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF257 Phe496Ser F496S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10494 0.0025729 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_001111266 Val74Ala V74A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001111266 Leu53Arg L53R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF99 Glu38Lys E38K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - ZNF99 Glu37Lys E37K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - TDRD12 Leu828Met L828M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - -3 - 0 N - - GPATCH1 Lys333Asn K333N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - PEPD Ser460Ile S460I not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 - - 5 Y 0 N - - ZNF302 Ser176Thr S176T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10324 0.00135606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF792 Gly453Asp G453D not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - FXYD5 Ser32Leu S32L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SBSN Thr285Ala T285A not reviewed Insufficiently evaluated not reviewed unknown Array 14 3234 0.004329 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM149 Arg337Gln R337Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - U2AF1L4 Asn65Lys N65K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF383 Leu297Ile L297I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - -2 - 2 N - - C19ORF33 Lys102Del K102Del not reviewed Insufficiently evaluated not reviewed unknown Array rs35520552 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSMD8 Ala60Thr A60T not reviewed Insufficiently evaluated not reviewed unknown Array 54 10272 0.00525701 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GGN Val83Ala V83A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10568 0.00018925 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - RASGRP4 Glu13Asp E13D not reviewed Insufficiently evaluated not reviewed unknown Array 17 9828 0.00172975 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.453 - - -2 - 1 N - - RINL Glu137Asp E137D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - FCGBP Glu4948Lys E4948K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - MIA Ala37Val A37V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - CEACAM4 Pro3Thr P3T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - 4 Y 1 N - - CEACAM5 Glu71Lys E71K not reviewed Insufficiently evaluated not reviewed unknown Array rs10402825 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - ARHGEF1 Tyr633Cys Y633C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POU2F2 Ala368Val A368V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF283 Lys634Glu K634E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10232 0.00039093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF404 Ser22Leu S22L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10670 0.000749765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEACAM19 Thr150Ile T150I not reviewed Insufficiently evaluated not reviewed unknown Array 582 10758 0.0540993 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - APOC4 Lys110Thr K110T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EML2 Val87Ile V87I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - FOXA3 Gly265Arg G265R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - MYPOP Pro372Leu P372L not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - CCDC61 Ser168Leu S168L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9738 0.00123229 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC61 Pro195Leu P195L not reviewed Insufficiently evaluated not reviewed unknown Array 18 9872 0.00182334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF541 Pro154Thr P154T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLA2G4C Arg402Gln R402Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIG1 Pro11Arg P11R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - SPACA4 Leu13Val L13V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPM4 Arg108Cys R108C not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - SYT3 Tyr226His Y226H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10684 0.00187196 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - -1 - 2 N - - KLK13 Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ZNF600 Tyr139His Y139H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - ZNF468 Gln458Glu Q458E not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.357 - - -2 - 1 N - - OSCAR Arg113Leu R113L not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OSCAR Val150Leu V150L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRPF31 Ala291Val A291V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 2 - 3 N - - LILRB2 Glu158Val E158V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - NLRP4 Gly852Val G852V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.298 - - 8 Y 1 N - - NLRP8 Val352Ile V352I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ZSCAN5B Ser188Thr S188T not reviewed Insufficiently evaluated not reviewed unknown Array rs10425951 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZSCAN5B His125Arg H125R not reviewed Insufficiently evaluated not reviewed unknown Array rs73617565 7 128 0.0546875 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF264 Cys55Tyr C55Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61730300 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - VN1R1 Arg215Lys R215K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -3 - 0 N - - ZNF417 Gln11Arg Q11R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - ZNF274 Ser312Leu S312L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10358 0.000193087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF324 Glu230Asp E230D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.298 - - -2 - 1 N - - C2ORF48 Ser29Leu S29L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NBAS Val568Ile V568I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - APOB Ser3081Thr S3081T not reviewed Insufficiently evaluated not reviewed unknown Array rs72653100 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - AGBL5 Pro422Thr P422T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 4 Y 1 N - - IFT172 Val1204Leu V1204L not reviewed Insufficiently evaluated not reviewed unknown Array rs7580439 33 10748 0.00307034 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CCDC121 Val151Gly V151G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLB1 Asn812Ile N812I not reviewed Insufficiently evaluated not reviewed unknown Array 190 10758 0.0176613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - DHX57 Ser465Phe S465F not reviewed Insufficiently evaluated not reviewed unknown Array rs36035994 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - THADA Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array rs10210191 76 9480 0.00801688 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - ERLEC1 Thr407Ile T407I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PUS10 Asn46Ser N46S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TIA1 Ala316Gly A316G not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLEC4F Glu494Lys E494K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - NAT8 Ala165Ser A165S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - -1 - 1 N - - STAMBP Arg391His R391H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - TET3 Ser528Tyr S528Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - REG1B Glu90Asp E90D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.671 - - -2 - 1 N - - REG1B Glu80Asp E80D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - -2 - 2 N - - CTNNA2 Asn397Ser N397S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB290165 Arg1048His R1048H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGOLN2 Lys190Glu K190E not reviewed Insufficiently evaluated not reviewed unknown Array 54 9786 0.00551809 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - MAT2A Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.321 - - 1 - 1 N - - POLR1A Pro673Ala P673A not reviewed Insufficiently evaluated not reviewed unknown Array 11 9910 0.00110999 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTCD3 Asp384Gly D384G not reviewed Insufficiently evaluated not reviewed unknown Array rs34866009 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - CD8A Leu16Phe L16F not reviewed Insufficiently evaluated not reviewed unknown Array 8 10162 0.000787246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASTL Arg311Trp R311W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM178B Asp128Glu D128E not reviewed Insufficiently evaluated not reviewed unknown Array 25 3230 0.00773994 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSGA10 Cys315Ser C315S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - EIF5B Ile454Met I454M not reviewed Insufficiently evaluated not reviewed unknown Array 2 9502 0.000210482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - REV1 Leu1102Pro L1102P not reviewed Insufficiently evaluated not reviewed unknown Array rs3087400 32 10758 0.00297453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL1R2 His329Tyr H329Y not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GCC2 Gln283Glu Q283E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ACOXL Pro200Ser P200S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - MARCO Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array 76 10750 0.00706977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPB41L5 Thr596Ile T596I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - WDR33 Met545Lys M545K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGEF4 Asp33His D33H not reviewed Insufficiently evaluated not reviewed unknown Array rs10188052 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK123346 Gly127Ser G127S not reviewed Insufficiently evaluated not reviewed unknown Array rs7594250 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCKAP5 Thr1613Met T1613M not reviewed Insufficiently evaluated not reviewed unknown Array 16 9818 0.00162966 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.703 - - 2 - 1 N - - NCKAP5 Phe857Ser F857S not reviewed Insufficiently evaluated not reviewed unknown Array 11 9838 0.00111811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - HNMT Cys82Tyr C82Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.199 - - 6 Y 0 N - - LRP1B Asp3134Gly D3134G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - LRP1B Arg1581His R1581H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - LRP1B Arg736Ser R736S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GALNT5 Pro279Leu P279L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLA2R1 Ile279Val I279V not reviewed Insufficiently evaluated not reviewed unknown Array rs965290 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - TTC21B Ser524Cys S524C not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCN7A Ala739Val A739V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9616 0.00031198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - XIRP2 Gln1639Lys Q1639K not reviewed Insufficiently evaluated not reviewed unknown Array 45 9518 0.00472788 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRP2 Pro3468Leu P3468L not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 7 Y 3 N - - LRP2 Asn2158Thr N2158T not reviewed Insufficiently evaluated not reviewed unknown Array rs34052957 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 - Y 1 - 3 N - - PPIG Gln637Glu Q637E not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTC30A Asn537Asp N537D not reviewed Insufficiently evaluated not reviewed unknown Array rs61747539 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC30A Gln73His Q73H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10656 0.00591216 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.885 - - -1 - 2 N - - ZSWIM2 Met528Thr M528T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKAR Leu23Arg L23R not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC150 Arg671Gln R671Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9766 0.000102396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - TRAK2 Ser705Ala S705A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -1 - 0 N - - NDUFS1 Met204Thr M204T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.277 Y - 2 - 2 N - - FASTKD2 Asp364Asn D364N not reviewed Insufficiently evaluated not reviewed unknown Array rs34709212 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PLEKHM3 Ser324Thr S324T not reviewed Insufficiently evaluated not reviewed unknown Array 199 10216 0.0194792 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - LANCL1 Ile138Met I138M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - SLC11A1 Ile257Val I257V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -4 - 0 N - - MOGAT1 Ala264Asp A264D not reviewed Insufficiently evaluated not reviewed unknown Array 20 9626 0.00207771 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.609 - - 5 Y 1 N - - TIGD1 Lys521Arg K521R not reviewed Insufficiently evaluated not reviewed unknown Array 11 6172 0.00178224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -3 - 0 N - - UGT1A4 Ser166Leu S166L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.468 - - 6 Y 1 N - - PER2 Pro72Leu P72L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - PASK Gly782Arg G782R not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 6 Y 0 N - - C20ORF202 Gly84Arg G84R not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF343 Ile285Met I285M not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - -1 - 1 N - - FAM113A Pro327Leu P327L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - FAM113A Phe304Cys F304C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - C20ORF26 Ser675Asn S675N not reviewed Insufficiently evaluated not reviewed unknown Array rs34744783 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF26 Gln773Lys Q773K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAX1 Pro386Ser P386S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CST1 Gly79Val G79V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.342 - - 8 Y 1 N - - TTLL9 Arg119Trp R119W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10332 0.00058072 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ACSS2 Gln45Arg Q45R not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 0 - 1 N - - RPN2 Glu532Lys E532K not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MATN4 Gly533Glu G533E not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MATN4 Val38Leu V38L not reviewed Insufficiently evaluated not reviewed unknown Array 120 10714 0.0112003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RBPJL Glu26Gln E26Q not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM65C Lys594Met K594M not reviewed Insufficiently evaluated not reviewed unknown Array 100 9890 0.0101112 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - FAM65C Ser491Leu S491L not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZBP1 Arg17Ile R17I not reviewed Insufficiently evaluated not reviewed unknown Array rs35813125 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.688 - - 7 Y 1 N - - CDH26 His515Tyr H515Y not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - -1 - 1 N - - NTSR1 Gln275His Q275H not reviewed Insufficiently evaluated not reviewed unknown Array rs35373650 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.62 - - -1 - 1 N - - COL20A1 Tyr891Cys Y891C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10214 9.7904e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001037335 Arg631His R631H not reviewed Insufficiently evaluated not reviewed unknown Array rs34418613 84 10308 0.00814901 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - NRIP1 Thr1152Met T1152M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 2 - 2 N - - KRTAP6-1 Arg43Cys R43C not reviewed Insufficiently evaluated not reviewed unknown Array 377 10758 0.0350437 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TIAM1 Arg28His R28H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SYNJ1 Pro1508Leu P1508L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.095 - - 7 Y 0 N - - BRWD1 His1838Asp H1838D not reviewed Insufficiently evaluated not reviewed unknown Array rs2234547 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - LCA5L Leu304Ser L304S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 6 Y 1 N - - IGSF5 Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - UMODL1 Val630Met V630M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UMODL1 Asp892Asn D892N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.49 - - -1 - 1 N - - RRP1 Ala270Ser A270S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ICOSLG Asp32Glu D32E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10354 0.00164188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - -2 - 1 N - - TRPM2 Asn273Lys N273K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC3 Ala248Thr A248T not reviewed Insufficiently evaluated not reviewed unknown Array 65 10706 0.00607136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KRTAP12-3 Val54Met V54M not reviewed Insufficiently evaluated not reviewed unknown Array 117 10652 0.0109839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - COL18A1 Gly517Ser G517S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PCNT Pro1637Leu P1637L not reviewed Insufficiently evaluated not reviewed unknown Array rs34849154 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.154 - - 7 Y 0 N - - AB020626 Pro259Leu P259L not reviewed Insufficiently evaluated not reviewed unknown Array rs73876508 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF25 Asp245Glu D245E not reviewed Insufficiently evaluated not reviewed unknown Array rs16982614 177 10758 0.0164529 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CU013068 Ala36Val A36V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC116 Lys412Arg K412R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.868 - - -3 - 2 N - - IGLL1 Met162Lys M162K not reviewed Insufficiently evaluated not reviewed unknown Array 445 10758 0.0413646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 4 Y 1 N - - IGLL1 Val33Met V33M not reviewed Insufficiently evaluated not reviewed unknown Array 374 10608 0.0352564 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - NM_001013618 Leu153Pro L153P not reviewed Insufficiently evaluated not reviewed unknown Array 18 10754 0.0016738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001013618 Arg200Cys R200C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10752 0.00362723 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYO18B Arg2047Gln R2047Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10182 0.00520526 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 0 - 2 N - - SEC14L3 Val270Leu V270L not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PES1 Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - INPP5J Ala963Thr A963T not reviewed Insufficiently evaluated not reviewed unknown Array 38 9690 0.00392157 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 1 - 1 N - - NM_001080499 Ala12Glu A12E not reviewed Insufficiently evaluated not reviewed unknown Array rs61746393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFT27 Ala141Val A141V not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIOBP Ala531Pro A531P not reviewed Insufficiently evaluated not reviewed unknown Array 92 9936 0.00925926 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CBX6 Pro135Ala P135A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10190 0.00196271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CACNA1I Val395Ile V395I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - FAM83F Arg245Ser R245S not reviewed Insufficiently evaluated not reviewed unknown Array rs12330063 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.405 - - 3 - 1 N - - MKL1 Ala569Thr A569T not reviewed Insufficiently evaluated not reviewed unknown Array 95 6012 0.0158017 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM109B Asp257Glu D257E not reviewed Insufficiently evaluated not reviewed unknown Array 55 10752 0.00511533 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.145 - - -2 - 0 N - - TTLL12 Arg597Gln R597Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.571 - - 0 - 1 N - - EFCAB6 Gln1365Arg Q1365R not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - EFCAB6 Arg429Gln R429Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - TTLL8 Pro536Leu P536L not reviewed Insufficiently evaluated not reviewed unknown Array rs61739921 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHL1 Val316Ile V316I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741128 41 10758 0.00381112 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C3ORF31 Ser151Pro S151P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF31 Tyr91Cys Y91C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FGD5 Ala587Thr A587T not reviewed Insufficiently evaluated not reviewed unknown Array rs17038795 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR2C2 Leu96Pro L96P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KCNH8 His667Arg H667R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.339 - - 1 - 1 N - - NGLY1 His536Gln H536Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10752 0.00139509 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - OXSM Lys270Arg K270R not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARPP21 Ala382Val A382V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - LRRFIP2 Leu289Ser L289S not reviewed Insufficiently evaluated not reviewed unknown Array 63 10732 0.00587029 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GOLGA4 Arg1169Trp R1169W not reviewed Insufficiently evaluated not reviewed unknown Array 81 10756 0.00753068 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - CTDSPL Gly75Glu G75E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - SCN10A Thr1505Met T1505M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCN10A Ser1004Ala S1004A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK130974 Arg118Cys R118C not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BX648094 Leu479Pro L479P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF501 Pro77Ser P77S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10706 0.00102746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 3 - 2 N - - KIF15 Asn827Ser N827S not reviewed Insufficiently evaluated not reviewed unknown Array 244 10758 0.0226808 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF15 Gln871Glu Q871E not reviewed Insufficiently evaluated not reviewed unknown Array 240 10756 0.0223131 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.214 - - -2 - 1 N - - KIF15 Ser997Leu S997L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - KIF15 His1147Gln H1147Q not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.78 - - -1 - 1 N - - KIF15 Glu1272Asp E1272D not reviewed Insufficiently evaluated not reviewed unknown Array rs17076986 243 10758 0.0225878 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FYCO1 Lys1108Arg K1108R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - FYCO1 His727Asn H727N not reviewed Insufficiently evaluated not reviewed unknown Array rs36014492 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LTF Arg627Cys R627C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 8 Y 2 N - - SETD2 Pro248Thr P248T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC51 Ala232Val A232V not reviewed Insufficiently evaluated not reviewed unknown Array 70 9886 0.00708072 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR6 Val1023Met V1023M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - LAMB2 Arg1148His R1148H not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.012 Y - 1 - 1 N - - BSN AlaSer2913GlyThr AS2913GT not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BSN Val3508Ile V3508I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UBA7 His817Arg H817R not reviewed Insufficiently evaluated not reviewed unknown Array rs2230149 293 10758 0.0272355 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFRD2 Gly342Asp G342D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 4 Y 0 N - - RBM15B Glu700Asp E700D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - -2 - 1 N - - RPL29 AlaLysAlaLys127Del AKAK127Del not reviewed Insufficiently evaluated not reviewed unknown Array rs58093471 4 108 0.037037 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH1 Lys2375Gln K2375Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10402 0.000672947 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRKCD Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF51 Leu59Phe L59F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACOX2 Glu406Gln E406Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - LRIG1 Pro732Leu P732L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746346 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LRIG1 Gly553Arg G553R not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - TMF1 Leu1092Arg L1092R not reviewed Insufficiently evaluated not reviewed unknown Array 8 9438 0.000847637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDZRN3 Glu651Gln E651Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - ROBO1 Arg922His R922H not reviewed Insufficiently evaluated not reviewed unknown Array 21 9988 0.00210252 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - ROBO1 Gln390Leu Q390L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - C3ORF38 Gln185Pro Q185P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPHA3 Ile564Val I564V not reviewed Insufficiently evaluated not reviewed unknown Array rs55712516 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - -4 - 1 N - - DCBLD2 Pro689Ser P689S not reviewed Insufficiently evaluated not reviewed unknown Array 52 9950 0.00522613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - C3ORF66 Arg111Cys R111C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PHLDB2 Asn1089Asp N1089D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HCLS1 Glu256Del E256Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOLGB1 Arg2475His R2475H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - KALRN Ala2726Ser A2726S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC13 Asp348His D348H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730150 96 10758 0.00892359 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - UROC1 Val115Met V115M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10262 0.00185149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - KIAA1257 Pro265Ser P265S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10242 0.000585823 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CCDC48 Gly36Ser G36S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RAB43 Glu137Lys E137K not reviewed Insufficiently evaluated not reviewed unknown Array rs61758772 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 0 - 0 N - - PLXND1 Met1066Thr M1066T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL6A5 Ser292Asn S292N not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.381 - - 0 - 1 N - - COL6A5 Val2425Ile V2425I not reviewed Insufficiently evaluated not reviewed unknown Array 175 9650 0.0181347 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - DNAJC13 Glu1661Asp E1661D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10726 9.3231e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STAG1 Pro940Ser P940S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DZIP1L Glu237Gly E237G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CP Thr551Ile T551I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733458 248 10752 0.0230655 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.915 - Y 3 - 3 N - - IGSF10 Ala2406Val A2406V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - IGSF10 Thr981Met T981M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - MME Met419Leu M419L not reviewed Insufficiently evaluated not reviewed unknown Array rs34931605 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -3 - 2 N - - AK094480 Ala157Ser A157S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SAMD7 Ser200Asn S200N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - KLHL6 Arg244Gln R244Q not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.742 Y - 0 - 2 N - - HTR3D Leu257Met L257M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EHHADH Ile689Thr I689T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EHHADH Arg684Gly R684G not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNK2 Ser666Thr S666T not reviewed Insufficiently evaluated not reviewed unknown Array 8 9576 0.000835421 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF718 Lys140Ser K140S not reviewed Insufficiently evaluated not reviewed unknown Array rs9684214 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF718 Pro77Thr P77T not reviewed Insufficiently evaluated not reviewed unknown Array rs7677201 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF718 Val180Glu V180E not reviewed Insufficiently evaluated not reviewed unknown Array rs7692722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM193A Ser389Gly S389G not reviewed Insufficiently evaluated not reviewed unknown Array rs34782960 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - TNIP2 Gln249His Q249H not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - GRK4 Pro545Ala P545A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LRPAP1 Asn114Ser N114S not reviewed Insufficiently evaluated not reviewed unknown Array rs2228158 225 10758 0.0209147 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - EVC Val619Ile V619I not reviewed Insufficiently evaluated not reviewed unknown Array 39 10484 0.00371995 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.877 Y - -4 - 3 N - - C4ORF50 Ala187Thr A187T not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3TC1 Pro343Thr P343T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SH3TC1 Ala755Val A755V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACOX3 Arg602Cys R602C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10422 0.000479754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - C4ORF23 Met71Leu M71L not reviewed Insufficiently evaluated not reviewed unknown Array rs73211375 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C4ORF23 Arg231Trp R231W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPR78 Val271Leu V271L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.126 - - 0 - 0 N - - NM_001040071 Ala3Asp A3D not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC2A9 Pro349Leu P349L not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.419 - - 7 Y 1 N - - PROM1 Ala772Val A772V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.221 Y - 2 - 2 N - - LAP3 Lys476Asn K476N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEL1L3 Pro1122Ser P1122S not reviewed Insufficiently evaluated not reviewed unknown Array rs7671168 25 10450 0.00239234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - TLR10 Trp617Cys W617C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.782 - - 7 Y 1 N - - TLR6 Leu194Pro L194P not reviewed Insufficiently evaluated not reviewed unknown Array rs5743809 127 10746 0.0118184 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - C4ORF14 Gly49Arg G49R not reviewed Insufficiently evaluated not reviewed unknown Array 96 10756 0.00892525 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UGT2B11 Pro400Arg P400R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 5 Y 0 N - - UGT2B4 Tyr354Cys Y354C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - UGT2B4 Ser80Pro S80P not reviewed Insufficiently evaluated not reviewed unknown Array rs41299978 81 10622 0.00762568 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STATH Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C4ORF40 Arg91Cys R91C not reviewed Insufficiently evaluated not reviewed unknown Array rs1613461 303 10758 0.0281651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FRAS1 Thr2201Ile T2201I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - FRAS1 Ala2250Thr A2250T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GK2 Tyr279Cys Y279C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RASGEF1B Tyr346Cys Y346C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPN13 Ser1749Pro S1749P not reviewed Insufficiently evaluated not reviewed unknown Array rs17012064 177 9562 0.0185108 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSPP Asp787Asn D787N not reviewed Insufficiently evaluated not reviewed unknown Array 53 8254 0.00642113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TIGD2 Cys213Ser C213S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - TIGD2 Asn522Asp N522D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BANK1 Val310Ala V310A not reviewed Insufficiently evaluated not reviewed unknown Array 344 10752 0.031994 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - BDH2 Glu29Asp E29D not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.078 - - -2 - 0 N - - CENPE His1365Leu H1365L not reviewed Insufficiently evaluated not reviewed unknown Array rs34711108 122 10756 0.0113425 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - NPNT Gly516Ser G516S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EGF Thr1174Asn T1174N not reviewed Insufficiently evaluated not reviewed unknown Array rs28592692 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNPO2 Ala327Gly A327G not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - SPRY1 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD50 Gly1389Glu G1389E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF827 Ala85Val A85V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - LRBA Leu2701Phe L2701F not reviewed Insufficiently evaluated not reviewed unknown Array rs34662958 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0922 Ala836Thr A836T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - KIAA0922 Asn1254Gly N1254G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACCN5 Thr4Ile T4I not reviewed Insufficiently evaluated not reviewed unknown Array rs28559297 146 10756 0.0135738 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - PALLD Pro885Ser P885S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ODZ1 Thr509Ala T509A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNX25 Glu609Asp E609D not reviewed Insufficiently evaluated not reviewed unknown Array rs28435173 393 10758 0.036531 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CEP72 Asp579Asn D579N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10748 0.000465202 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - -1 - 1 N - - TPPP Arg30Lys R30K not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -3 - 2 N - - MARCH6 Arg48Gln R48Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - ROPN1L Leu55Phe L55F not reviewed Insufficiently evaluated not reviewed unknown Array rs34537313 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - TRIO Thr2975Met T2975M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DROSHA Pro346Leu P346L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDZD2 Ala1149Thr A1149T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - MTMR12 Glu231Lys E231K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - TARS Ile509Ser I509S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - TARS Ile705Met I705M not reviewed Insufficiently evaluated not reviewed unknown Array rs61734318 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - CAPSL Met201Val M201V not reviewed Insufficiently evaluated not reviewed unknown Array rs1345826 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.893 - - 0 - 2 N - - C9 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array rs13361416 380 10758 0.0353226 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ISL1 Asp26Asn D26N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - GPBP1 Thr298Lys T298K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLK2 Ala49Pro A49P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10748 0.000279121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CENPH Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10316 9.6936e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - BDP1 Asp1351His D1351H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.178 - - 3 - 0 N - - UTP15 Ser173Gly S173G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 2 N - - GFM2 Pro416Leu P416L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 7 Y 2 N - - AGGF1 Tyr112Cys Y112C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - XRCC4 Asn137Lys N137K not reviewed Insufficiently evaluated not reviewed unknown Array rs56334522 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - BC126296 Ser71Asn S71N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742497 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASA1 Val102Leu V102L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CCNH Met54Val M54V not reviewed Insufficiently evaluated not reviewed unknown Array rs3093785 173 10758 0.0160811 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC37 Leu867Val L867V not reviewed Insufficiently evaluated not reviewed unknown Array 188 10744 0.0174981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - TTC37 Leu759Phe L759F not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - RIOK2 Arg507His R507H not reviewed Insufficiently evaluated not reviewed unknown Array rs34555783 151 10754 0.0140413 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PPIP5K2 Ala944Gly A944G not reviewed Insufficiently evaluated not reviewed unknown Array rs17155115 161 10756 0.0149684 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - PPIP5K2 Pro1185Gln P1185Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17155138 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMEM232 Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 82 3234 0.0253556 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TICAM2 Ser233Asn S233N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMXL1 Asn2463Ser N2463S not reviewed Insufficiently evaluated not reviewed unknown Array 85 10754 0.00790404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF608 Val1246Ile V1246I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAMTS19 Gly202Ser G202S not reviewed Insufficiently evaluated not reviewed unknown Array 146 10634 0.0137295 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC22A4 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CCNI2 Glu272Lys E272K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - EGR1 ValThrThrSerTyrProSerPro454Del VTTSYPSP454Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSD2 Gly29Glu G29E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731923 142 10754 0.0132044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 6 Y 2 N - - PSD2 Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34880693 139 10750 0.0129302 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - WDR55 Arg50Cys R50C not reviewed Insufficiently evaluated not reviewed unknown Array rs34342435 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - PCDHB5 LysThr784AsnSer KT784NS not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB17 Thr482Ile T482I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCHSD1 Arg595His R595H not reviewed Insufficiently evaluated not reviewed unknown Array 82 9636 0.00850976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - TCERG1 Thr262Met T262M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TIGD6 Glu443Gln E443Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5ORF4 Gln285Glu Q285E not reviewed Insufficiently evaluated not reviewed unknown Array 62 10280 0.00603113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GEMIN5 Ser1430Ala S1430A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.88 - - -1 - 2 N - - GEMIN5 Glu1350Lys E1350K not reviewed Insufficiently evaluated not reviewed unknown Array rs35707071 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP10B Thr1019Ile T1019I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - ODZ2 Pro353Leu P353L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - STC2 Glu293Lys E293K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CDHR2 Gln53Lys Q53K not reviewed Insufficiently evaluated not reviewed unknown Array 213 10758 0.0197992 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAMTS2 Ala1005Val A1005V not reviewed Insufficiently evaluated not reviewed unknown Array 71 10486 0.00677093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - RASGEF1C Ser242Arg S242R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - OR2V2 Leu64Phe L64F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 2 N - - SERPINB1 Arg290Cys R290C not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - NQO2 Val120Met V120M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF146 Thr281Ile T281I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIST1H3B Leu127Val L127V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF391 Ser149Arg S149R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10710 0.0038282 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF391 Thr206Asn T206N not reviewed Insufficiently evaluated not reviewed unknown Array 88 10732 0.00819978 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAS1L Met109Leu M109L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730667 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - -3 - 2 N - - TRIM31 Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array rs61758092 96 7516 0.0127728 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TRIM10 Gly392Arg G392R not reviewed Insufficiently evaluated not reviewed unknown Array 9 7518 0.00119713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - NM_001004349 Thr61Ile T61I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF15 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10688 0.000467814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICA Val315Ala V315A not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTB Gly70Glu G70E not reviewed Insufficiently evaluated not reviewed unknown Array rs3093554 59 7524 0.00784157 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - LY6G5B Leu188Val L188V not reviewed Insufficiently evaluated not reviewed unknown Array 21 7522 0.00279181 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - C6ORF26 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array 17 7504 0.00226546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF26 Asn86Lys N86K not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF26 Arg151Ser R151S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VARS Gln1174His Q1174H not reviewed Insufficiently evaluated not reviewed unknown Array 18 7422 0.00242522 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - -1 - 1 N - - C6ORF10 Gly169Arg G169R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAP2 Val467Ile V467I not reviewed Insufficiently evaluated not reviewed unknown Array 73 7522 0.00970486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TAF11 Leu48Phe L48F not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 0 - 0 N - - SRPK1 Ile417Val I417V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10014 0.00359497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - USP49 Gly633Arg G633R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF154 Arg277Gln R277Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD2AP Thr551Ala T551A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - CRISP2 Arg73Ser R73S not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - BAG2 Ser18Arg S18R not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - COL12A1 Val2633Ala V2633A not reviewed Insufficiently evaluated not reviewed unknown Array 7 9446 0.000741054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - CYB5R4 Lys211Glu K211E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.898 - - 0 - 2 N - - KIAA1009 Val110Asp V110D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.76 - - 8 Y 1 N - - ZNF292 Gly946Arg G946R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF165 Thr148Ala T148A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF165 Phe361Leu F361L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDN1 Arg3240Cys R3240C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10754 0.00334759 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.873 - - 8 Y 2 N - - CASP8AP2 Asp1220Tyr D1220Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 9394 0.00191612 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 7 Y 2 N - - GJA9 Leu138Ile L138I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA0776 Gly162Ser G162S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10756 0.00734474 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.397 - - 2 - 1 N - - SFRS18 Val589Ala V589A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.445 - - 2 - 1 N - - GRIK2 Gly102Val G102V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AIM1 Pro1053Ser P1053S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.484 - - 3 - 1 N - - RPF2 Ala41Gly A41G not reviewed Insufficiently evaluated not reviewed unknown Array rs9320350 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.216 - - 1 - 1 N - - REV3L Ile2115Ser I2115S not reviewed Insufficiently evaluated not reviewed unknown Array rs56108230 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - REV3L Ser1869Ile S1869I not reviewed Insufficiently evaluated not reviewed unknown Array rs56347161 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 5 Y 0 N - - TRAF3IP2 His64Pro H64P not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MCM9 Asn389Ser N389S not reviewed Insufficiently evaluated not reviewed unknown Array 228 10758 0.0211935 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RSPO3 Pro59Ser P59S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KIAA0408 Gln317Lys Q317K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.282 - - -2 - 1 N - - THEMIS Val252Ile V252I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - LAMA2 Ala1893Val A1893V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ARHGAP18 Gly32Arg G32R not reviewed Insufficiently evaluated not reviewed unknown Array rs34390841 156 10758 0.0145008 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC35D3 Asp328Glu D328E not reviewed Insufficiently evaluated not reviewed unknown Array 97 10756 0.00901822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NHSL1 Tyr583Asp Y583D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRM1 Gly1054Asp G1054D not reviewed Insufficiently evaluated not reviewed unknown Array 20 10718 0.00186602 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - NM_001089587 Arg26Trp R26W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TULP4 Pro809Thr P809T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LPA Thr1099Ser T1099S not reviewed Insufficiently evaluated not reviewed unknown Array rs62621433 95 10264 0.00925565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTLL2 Asp338Gly D338G not reviewed Insufficiently evaluated not reviewed unknown Array rs34740867 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTLL2 Ile356Val I356V not reviewed Insufficiently evaluated not reviewed unknown Array rs34286114 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SMOC2 Arg451Ile R451I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSMB1 Ile50Val I50V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDCD2 Asn271Ser N271S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - TMEM184A Gly291Ser G291S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745815 8 10534 0.000759445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001099942 Gln215Arg Q215R not reviewed Insufficiently evaluated not reviewed unknown Array rs61742201 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AMZ1 Ala389Thr A389T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10744 0.00409531 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 1 - 1 N - - SDK1 Asp1786Gly D1786G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TNRC18 Asn1596Thr N1596T not reviewed Insufficiently evaluated not reviewed unknown Array rs61741391 157 10052 0.0156188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - RNF216 Val872Met V872M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAGLB Ala656Thr A656T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ETV1 Ser244Thr S244T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DFNA5 Val466Ala V466A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.033 Y - 2 - 1 N - - AX748054 Gly96Arg G96R not reviewed Insufficiently evaluated not reviewed unknown Array rs12671270 3 124 0.0241935 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - NM_001126493 Arg37His R37H not reviewed Insufficiently evaluated not reviewed unknown Array rs73304427 53 3234 0.0163884 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM188B Pro220Ser P220S not reviewed Insufficiently evaluated not reviewed unknown Array rs73685795 364 9978 0.0364803 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - ZMIZ2 Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - NACAD Ala1218Thr A1218T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNS3 Ile118Val I118V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -4 - 2 N - - ABCA13 Ile2524Lys I2524K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Arg4015Cys R4015C not reviewed Insufficiently evaluated not reviewed unknown Array rs73694618 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LANCL2 Asp57Glu D57E not reviewed Insufficiently evaluated not reviewed unknown Array 73 10636 0.00686348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLIP2 Thr140Met T140M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - GTF2IRD2 Leu500Ser L500S not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAGI2 Ser1135Leu S1135L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - DMTF1 His469Tyr H469Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7ORF63 Asp862Asn D862N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP51A1 Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10752 0.00186012 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SAMD9 Val830Leu V830L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - BC130592 Leu61Met L61M not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC130592 Ser84Leu S84L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTCD1 Leu18Pro L18P not reviewed Insufficiently evaluated not reviewed unknown Array 73 10752 0.00678943 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GJC3 Ile190Thr I190T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 3 - 2 N - - PILRB Ile112Phe I112F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PILRB Glu128Asp E128D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.796 - - -2 - 1 N - - PCOLCE Pro274Gln P274Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - GIGYF1 Ala413Leu A413L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Ser1846Thr S1846T not reviewed Insufficiently evaluated not reviewed unknown Array 5 98 0.0510204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CUX1 Asp795Glu D795E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - NAPEPLD Arg64Lys R64K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - -3 - 1 N - - RELN Arg3439Gln R3439Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RELN Pro708Ser P708S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - DLD Asn18Ser N18S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - THAP5 Glu61Del E61Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF277 Ser383Leu S383L not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRZ1 Gln2253Arg Q2253R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - EXOC4 Leu717Val L717V not reviewed Insufficiently evaluated not reviewed unknown Array rs10269237 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - SVOPL Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UBN2 Thr1233Ala T1233A not reviewed Insufficiently evaluated not reviewed unknown Array rs28557304 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GSTK1 Leu108Ser L108S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - TAS2R60 Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - 7 Y 1 N - - OR2F1 Asp191Gly D191G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - OR2A5 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - -1 - 1 N - - OR2A12 Ile91Asn I91N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ARHGEF5 Pro212Ser P212S not reviewed Insufficiently evaluated not reviewed unknown Array rs1208147 2 118 0.0169492 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOBOX Arg44Leu R44L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AF035281 Arg134Trp R134W not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF767 Val145Ile V145I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - KRBA1 Gly145Val G145V not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GIMAP6 Gln103Arg Q103R not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ABP1 Arg205Cys R205C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - FASTK Phe386Cys F386C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - MLL3 Asn563Ser N563S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - UBE3C Leu117Val L117V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ERICH1 Met410Ile M410I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -1 - 1 N - - ERICH1 Val202Met V202M not reviewed Insufficiently evaluated not reviewed unknown Array rs34493075 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERICH1 Pro126Leu P126L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10444 0.000670241 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.505 - - 7 Y 1 N - - AX747124 Arg83His R83H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AB209502 Phe2581Val F2581V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XKR5 Thr23Ile T23I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10166 0.000590202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001080826 Cys288Trp C288W not reviewed Insufficiently evaluated not reviewed unknown Array rs11988457 46 9926 0.00463429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - RP1L1 Gly2115Asp G2115D not reviewed Insufficiently evaluated not reviewed unknown Array 49 9720 0.00504115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RP1L1 Thr1344Ile T1344I not reviewed Insufficiently evaluated not reviewed unknown Array 98 9828 0.00997151 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RP1L1 Glu1343Val E1343V not reviewed Insufficiently evaluated not reviewed unknown Array 71 9838 0.00721691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RP1L1 Asp993Asn D993N not reviewed Insufficiently evaluated not reviewed unknown Array 18 9674 0.00186066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RP1L1 Pro800Thr P800T not reviewed Insufficiently evaluated not reviewed unknown Array 56 9984 0.00560897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MTUS1 Thr160Ile T160I not reviewed Insufficiently evaluated not reviewed unknown Array 7 9956 0.000703093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - MTUS1 Asp3Asn D3N not reviewed Insufficiently evaluated not reviewed unknown Array 7 9600 0.000729166 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - FGL1 Val299Ile V299I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.747 - - -4 - 1 N - - TNFRSF10A Glu362Asp E362D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -2 - 0 N - - R3HCC1 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF13B Ser1400Gly S1400G not reviewed Insufficiently evaluated not reviewed unknown Array 7 9686 0.000722692 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 2 - 0 N - - RNF5P1 Glu12Gln E12Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TACC1 Glu29Gln E29Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - -2 - 2 N - - ANK1 Ala944Thr A944T not reviewed Insufficiently evaluated not reviewed unknown Array rs35797405 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - Y 1 - 1 N - - POTEA Ala271Thr A271T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - LYN Asp425Gly D425G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - MRPS28 Ser54Thr S54T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - -2 - 1 N - - LRRCC1 Glu444Lys E444K not reviewed Insufficiently evaluated not reviewed unknown Array 21 9634 0.00217978 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - C8ORF59 Asn48Tyr N48Y not reviewed Insufficiently evaluated not reviewed unknown Array 19 9402 0.00202085 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MMP16 Val562Leu V562L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - DPY19L4 Pro7Leu P7L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.117 - - 7 Y 0 N - - DPY19L4 Ala314Pro A314P not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.871 - - 2 - 2 N - - NM_016134 Ile204Val I204V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - MATN2 Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array rs34354598 104 10526 0.0098803 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 1 - 2 N - - SPAG1 Gly199Ala G199A not reviewed Insufficiently evaluated not reviewed unknown Array rs35305781 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKHD1L1 Pro560Leu P560L not reviewed Insufficiently evaluated not reviewed unknown Array 11 9536 0.00115352 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 7 Y 0 N - - SYBU Thr402IleAsn T402IN not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSMD3 Met633Thr M633T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.488 - - 2 - 1 N - - UTP23 Ser222Del S222Del not reviewed Insufficiently evaluated not reviewed unknown Array 4 126 0.031746 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCRNA00255 Gln84Arg Q84R not reviewed Insufficiently evaluated not reviewed unknown Array rs16889209 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL14A1 Val150Leu V150L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729463 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZFAT Val581Met V581M not reviewed Insufficiently evaluated not reviewed unknown Array 55 9842 0.00558829 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - COL22A1 Asp1112Asn D1112N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL22A1 Pro981Leu P981L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GLI4 Ser15Phe S15F not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.799 - - 5 Y 1 N - - EPPK1 Gln2140Glu Q2140E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EPPK1 Arg1681His R1681H not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Ala1208Thr A1208T not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPPK1 Gly65Asp G65D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEC Asp3077Glu D3077E not reviewed Insufficiently evaluated not reviewed unknown Array rs58308209 812 10604 0.0765749 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PARP10 Arg615Trp R615W not reviewed Insufficiently evaluated not reviewed unknown Array rs11984791 418 10342 0.0404177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - GPAA1 Ala429Thr A429T not reviewed Insufficiently evaluated not reviewed unknown Array 212 10664 0.01988 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SMARCA2 Val206Ala V206A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPAPDC2 Met8Thr M8T not reviewed Insufficiently evaluated not reviewed unknown Array rs35791393 50 7518 0.0066507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CNTLN Ala15Val A15V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - SH3GL2 Lys149Asn K149N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.119 - - 1 - 0 N - - IFNB1 Leu7His L7H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - IFNA13 Ala137Val A137V not reviewed Insufficiently evaluated not reviewed unknown Array rs2230050 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFNK Tyr88Cys Y88C not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LINGO2 Arg389Leu R389L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 6 Y 1 N - - ANXA2 Tyr317Cys Y317C not reviewed Insufficiently evaluated not reviewed unknown Array rs7868961 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MSMP Thr80Met T80M not reviewed Insufficiently evaluated not reviewed unknown Array 136 10478 0.0129796 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - OR13J1 Thr43Ile T43I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 3 - 1 N - - AK056723 Ser42Gly S42G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2S2 Val228Ala V228A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233567 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2S2 Thr151Ala T151A not reviewed Insufficiently evaluated not reviewed unknown Array rs2233565 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2S2 Thr101Ile T101I not reviewed Insufficiently evaluated not reviewed unknown Array rs2233561 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2S2 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array rs2233560 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VPS13A Glu2137Gly E2137G not reviewed Insufficiently evaluated not reviewed unknown Array 51 10732 0.00475214 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.958 - Y 6 Y 3 N - - ZCCHC6 Cys690Tyr C690Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - C9ORF79 Pro93Thr P93T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEMA4D Glu335Asp E335D not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF484 Lys699Thr K699T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - NCRNA00092 Asp32Asn D32N not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSD17B3 Ile102Phe I102F not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.13 Y - 2 - 1 N - - BAAT Lys117Arg K117R not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.278 Y - -3 - 2 N - - RNF20 Val866Met V866M not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - OR13F1 Phe94Ser F94S not reviewed Insufficiently evaluated not reviewed unknown Array rs7018553 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - OR13C4 Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NIPSNAP3B Glu190Lys E190K not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ACTL7B Asp128Glu D128E not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - EPB41L4B Ser261Cys S261C not reviewed Insufficiently evaluated not reviewed unknown Array 17 9766 0.00174073 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL27A1 Lys534Asn K534N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - COL27A1 AspArg1353GluGln DR1353EQ not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP110 Arg2233Cys R2233C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZBTB26 His236Arg H236R not reviewed Insufficiently evaluated not reviewed unknown Array rs7856488 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - GPR21 Phe212Val F212V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736065 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 0 N - - GOLGA1 Asn220His N220H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM102A Phe43Leu F43L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - FAM102A Leu4Phe L4F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 1 N - - NAIF1 Thr211Ser T211S not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_013318 Met2045Val M2045V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10012 0.0004994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPL7A Lys257Gln K257Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -2 - 2 N - - AF129264 Thr78Ala T78A not reviewed Insufficiently evaluated not reviewed unknown Array rs60202024 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPS2 Asp112Gly D112G not reviewed Insufficiently evaluated not reviewed unknown Array rs35140806 192 10758 0.0178472 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - LCN1 Ser76Asn S76N not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - LCN8 Thr69Met T69M not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1984 Thr288Ile T288I not reviewed Insufficiently evaluated not reviewed unknown Array 143 10118 0.0141332 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PTGDS Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -3 - 2 N - - C9ORF173 Pro114Leu P114L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10212 0.0028398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AF391805 Asp12Asn D12N not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP6 Tyr278His Y278H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10208 0.000685736 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SHROOM2 Ala832Val A832V not reviewed Insufficiently evaluated not reviewed unknown Array rs12006769 181 8761 0.0206597 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCEANC Thr65Arg T65R not reviewed Insufficiently evaluated not reviewed unknown Array 83 7859 0.0105611 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FTHL17 Gln120His Q120H not reviewed Insufficiently evaluated not reviewed unknown Array rs16989319 143 8759 0.0163261 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.174 - - -1 - 0 N - - AK001937 Asn57Ser N57S not reviewed Insufficiently evaluated not reviewed unknown Array 33 2482 0.0132957 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCN5 Thr727Ser T727S not reviewed Insufficiently evaluated not reviewed unknown Array 14 8761 0.00159799 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ITIH5L Arg1264Lys R1264K not reviewed Insufficiently evaluated not reviewed unknown Array 35 8761 0.00399498 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.727 - - -3 - 1 N - - TRO Ala1032Thr A1032T not reviewed Insufficiently evaluated not reviewed unknown Array 36 8331 0.00432121 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - SPIN2A Pro236Thr P236T not reviewed Insufficiently evaluated not reviewed unknown Array 13 8750 0.00148571 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - OPHN1 Met693Ile M693I not reviewed Insufficiently evaluated not reviewed unknown Array rs36095561 42 8757 0.00479616 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.02 Y - -1 - 1 N - - NHSL2 Glu123Lys E123K not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIN4 Ala94Ser A94S not reviewed Insufficiently evaluated not reviewed unknown Array 277 8759 0.0316246 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA2022 Met1237Leu M1237L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731613 41 8761 0.00467983 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.926 - - -3 - 2 N - - TEX13B Gly226Glu G226E not reviewed Insufficiently evaluated not reviewed unknown Array 3 8759 0.000342504 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL4A6 Ser550Gly S550G not reviewed Insufficiently evaluated not reviewed unknown Array 4 8761 0.000456568 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IRS4 Ala1158Thr A1158T not reviewed Insufficiently evaluated not reviewed unknown Array rs17847227 42 8667 0.00484597 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.819 - - 1 - 1 N - - XPNPEP2 Arg252Gly R252G not reviewed Insufficiently evaluated not reviewed unknown Array 14 8761 0.00159799 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - MAP7D3 Gln133Arg Q133R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - GPR112 Gly3059Asp G3059D not reviewed Insufficiently evaluated not reviewed unknown Array 254 8761 0.0289921 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPANXN3 Val89Ile V89I not reviewed Insufficiently evaluated not reviewed unknown Array rs5953851 302 8761 0.0344709 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - MTMR1 Ile146Val I146V not reviewed Insufficiently evaluated not reviewed unknown Array 50 8761 0.00570711 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_207107 Ser216Cys S216C not reviewed Insufficiently evaluated not reviewed unknown Array rs62642549 2 92 0.0217391 2 0 4 0 0 - - - - - - - - - - - - - - - - 0.368 - - 3 - 1 N - - TMEM187 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36085378 180 8755 0.0205597 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.098 - - 0 - 0 N - - DNASE1L1 Val280Ile V280I not reviewed Insufficiently evaluated not reviewed unknown Array 48 8761 0.00547883 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNASE1L1 Gln276Arg Q276R not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PLXNA3 Pro907Leu P907L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - G6PD Glu186Lys E186K not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MPP1 Ser13Gly S13G not reviewed Insufficiently evaluated not reviewed unknown Array 9 8757 0.00102775 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KIF1B Ser1489Leu S1489L not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CLCNKB Ser655Phe S655F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - ATP13A2 Val467Shift V467Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - FAM183A Leu120Shift L120Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGL Arg1378Gly R1378G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - FLG Tyr1517Ser Y1517S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FLG Gly1202Arg G1202R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10752 0.00437128 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TPM3 Lys31Thr K31T not reviewed Insufficiently evaluated not reviewed unknown Array rs62000429 63 10420 0.00604607 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SEMA4A Gly7Asp G7D not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 4 Y 3 N - - FMO3 Val277Ala V277A not reviewed Insufficiently evaluated not reviewed unknown Array rs2066530 186 10758 0.0172895 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CACNA1S Trp50Arg W50R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - LAMB3 Arg754Trp R754W not reviewed Insufficiently evaluated not reviewed unknown Array rs62637710 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.854 Y Y 7 Y 4 N - - LAMB3 Arg716Gln R716Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y 0 - 2 N - - LAMB3 Arg230Thr R230T not reviewed Insufficiently evaluated not reviewed unknown Array rs61734502 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.908 Y Y 3 - 4 N - - CR621662 Gln89Stop Q89X not reviewed Insufficiently evaluated not reviewed unknown Array rs61737771 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USH2A Asp4448Gly D4448G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.137 Y Y 4 Y 2 N - - USH2A Thr2772Ile T2772I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.83 Y Y 3 - 3 N - - LYST Asp2939Asn D2939N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.334 Y Y -1 - 3 N - - SFMBT2 Lys687Shift K687Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ575272 Gly147Shift G147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ERCC6 Thr1441Ile T1441I not reviewed Insufficiently evaluated not reviewed unknown Array rs4253230 282 10758 0.026213 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ERCC6 Ala731Ser A731S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.685 Y Y -1 - 3 N - - PCDH15 Ala1128Thr A1128T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 1 - 4 N - - PLCE1 Gly1094Val G1094V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732523 9 10068 0.000893921 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 8 Y 3 N - - FAM178A Val979Shift V979Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGFR2 Leu676Shift L676Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - C10ORF92 Ala240Shift A240Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PEX16 Asp154Gly D154G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OR5I1 Tyr151Shift Y151Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OSBP Ala384Shift A384Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RHOD Gly40Shift G40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM86C Ser15Shift S15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG8 Thr64Met T64M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - GRM5 Asp497Shift D497Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRM5 Asp495Shift D495Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATM Val182Leu V182L not reviewed Insufficiently evaluated not reviewed unknown Array rs3218707 77 10752 0.00716146 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MLL His3907Shift H3907Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VWF Asn1231Thr N1231T not reviewed Insufficiently evaluated not reviewed unknown Array rs61749368 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.24 Y Y 1 - 3 N - - VWF Val1229Gly V1229G not reviewed Insufficiently evaluated not reviewed unknown Array rs61749367 8 10738 0.000745017 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SCNN1A Pro437Leu P437L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 7 Y 3 N - - ATN1 Ala910Thr A910T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - A2M Gln1245Shift Q1245Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG10B Ser465Shift S465Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRK2 His442Tyr H442Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SMUG1 Gln3Stop Q3X not reviewed Insufficiently evaluated not reviewed unknown Array rs2233919 173 10752 0.01609 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR6C6 Leu200Stop L200X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AVIL Arg199Stop R199X not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C12ORF66 Tyr171Shift Y171Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GNPTAB Thr644Met T644M not reviewed Insufficiently evaluated not reviewed unknown Array rs10778148 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.762 Y Y 2 - 3 N - - PAH Ile97Leu I97L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SLC46A3 Gly416Shift G416Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLITRK1 Glu660Gly E660G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 6 Y 2 N - - PARP2 Asp207Shift D207Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCM Arg1099His R1099H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FMN1 Val1063Met V1063M not reviewed Insufficiently evaluated not reviewed unknown Array 122 9894 0.0123307 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - FMN1 Thr293Ser T293S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744794 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y -2 - 3 N - - JMJD7-PLA2G4B Gln609Stop Q609X not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPG11 Phe1604Leu F1604L not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN1 Pro938Thr P938T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - BC066551 Gln33Shift Q33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC066551 Val57Shift V57Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKD1 Arg2327Trp R2327W not reviewed Insufficiently evaluated not reviewed unknown Array 4 9760 0.000409836 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 7 Y 4 N - - MEFV Phe334Leu F334L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SRCAP Arg2151Shift R2151Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKD1L2 Trp583Stop W583X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10110 9.8911e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FOXC2 Asn455Ser N455S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10726 0.000186462 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.362 Y Y 0 - 3 N - - C16ORF85 Trp101Stop W101X not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPG7 Val405Ile V405I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.105 Y Y -4 - 2 N - - ITGAE Ser12Shift S12Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WRAP53 Thr305Shift T305Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MED9 Ser46Shift S46Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 60 0.0666667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCT6B Arg224Stop R224X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RDM1 Gln41Shift Q41Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRN Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array rs63750479 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 2 - 2 N - - UNC13D Gly148Ala G148A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 1 - 2 N - - GAA Asn290Asp N290D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - LAMA1 Lys1674Shift K1674Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CABYR Arg341Stop R341X not reviewed Insufficiently evaluated not reviewed unknown Array rs35554127 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DSG2 Ser351Gly S351G not reviewed Insufficiently evaluated not reviewed unknown Array 19 9544 0.00199078 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y 2 - 2 N - - ATP8B1 Gln1070His Q1070H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y -1 - 4 N - - TNFRSF11A Arg450Trp R450W not reviewed Insufficiently evaluated not reviewed unknown Array rs34945627 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.802 Y - 7 Y 2 N - - TUBB4 Val229Shift V229Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LDLR Ser691Leu S691L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 6 Y 3 N - - NOTCH3 Arg1560Pro R1560P not reviewed Insufficiently evaluated not reviewed unknown Array 42 10700 0.00392523 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.961 Y Y 5 Y 4 N - - ANKLE1 Cys29Stop C29X not reviewed Insufficiently evaluated not reviewed unknown Array 2 7516 0.000266098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NPHS1 Arg695Shift R695Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PRX Ala1316Val A1316V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10730 0.000559179 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 2 - 2 N - - PRX Ala1268Pro A1268P not reviewed Insufficiently evaluated not reviewed unknown Array rs35810126 23 10702 0.00214913 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.065 Y Y 2 - 2 N - - PRKCG Asn677Shift N677Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ZNF749 Trp177Stop W177X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OTOF Arg1068His R1068H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - MOGS Ile415Met I415M not reviewed Insufficiently evaluated not reviewed unknown Array rs34838944 102 9920 0.0102823 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MOGS Gly269Glu G269E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10114 9.8872e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 6 Y 4 N - - MMADHC Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.976 Y Y 0 - 4 N - - TTN Val29429Met V29429M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg28495His R28495H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Thr27551Ser T27551S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN His24229Arg H24229R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Lys15950Arg K15950R not reviewed Insufficiently evaluated not reviewed unknown Array rs72646823 21 9868 0.00212809 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Thr13583Ala T13583A not reviewed Insufficiently evaluated not reviewed unknown Array 8 9792 0.000816993 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Leu9540Val L9540V not reviewed Insufficiently evaluated not reviewed unknown Array rs72650029 37 9744 0.00379721 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Lys7965Glu K7965E not reviewed Insufficiently evaluated not reviewed unknown Array 3 9806 0.000305935 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Gly5814Asp G5814D not reviewed Insufficiently evaluated not reviewed unknown Array rs72648964 28 9750 0.00287179 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Val1057Ala V1057A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DNAH7 Leu696Stop L696X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SAG Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 58 10418 0.00556729 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - HDAC4 Gln580Shift Q580Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RANGAP1 Gln340Glu Q340E not reviewed Insufficiently evaluated not reviewed unknown Array rs12167166 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 Y Y -2 - 2 N - - LAMB2 Cys1143Shift C1143Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - TP63 Pro511Thr P511T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 4 Y 3 N - - FRAS1 Pro2841Shift P2841Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - WDR41 Met369Shift M369Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBN2 Gln2432His Q2432H not reviewed Insufficiently evaluated not reviewed unknown Array rs34600572 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - MYOT Ser495Asn S495N not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.931 Y Y 0 - 4 N - - FLT4 Arg1320Gln R1320Q not reviewed Insufficiently evaluated not reviewed unknown Array 254 10756 0.0236147 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - STK19 Trp17Stop W17X not reviewed Insufficiently evaluated not reviewed unknown Array rs34548063 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PKHD1 Asp2433Val D2433V not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - ELOVL5 Leu287Shift L287Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1586 Arg71Stop R71X not reviewed Insufficiently evaluated not reviewed unknown Array rs61741654 39 10750 0.00362791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AHI1 Arg329Leu R329L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9764 0.000716919 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.899 Y Y 6 Y 4 N - - SYNE1 Ile4920Val I4920V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y Y -4 - 2 N - - SYNE1 Thr895Arg T895R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 3 - 2 N - - FAM126A Thr498Ala T498A not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.222 Y Y 1 - 3 N - - PTCD1 Arg130Stop R130X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC26A4 Ile539Thr I539T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y 3 - 2 N - - LPL Ala427Thr A427T not reviewed Insufficiently evaluated not reviewed unknown Array rs5934 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CHRNA2 Arg61Gln R61Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.736 Y Y 0 - 3 N - - ESCO2 Ile449Val I449V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y -4 - 2 N - - TGS1 Lys621Shift K621Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VLDLR Ser328Gly S328G not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 2 - 4 N - - GLDC Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array rs28617412 255 10758 0.0237033 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - AKNA Glu832Shift E832Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGPAT2 Ala239Val A239V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10724 0.00372995 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 2 - 2 N - - ABCB7 Trp41Arg W41R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.885 Y Y 7 Y 4 N - - OPN1LW Val171Ile V171I not reviewed Insufficiently evaluated not reviewed unknown Array rs60549689 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -4 - 2 N - - TTLL10 Arg359Gln R359Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - BC073150 Arg19Pro R19P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK001208 Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AJAP1 Thr178Ser T178S not reviewed Insufficiently evaluated not reviewed unknown Array 98 10728 0.00913497 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - PRDM2 Asn1344Ser N1344S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FHAD1 Arg1319Gly R1319G not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SPEN Pro1296Ala P1296A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - FAM131C Gln187Arg Q187R not reviewed Insufficiently evaluated not reviewed unknown Array 153 9868 0.0155047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - SPATA21 Asn234Ser N234S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - SPATA21 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10748 0.000744324 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - UBR4 Val3101Met V3101M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.417 - - 0 - 1 N - - AKR7A2 His269Asn H269N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.75 - - 0 - 1 N - - KIF17 Thr304Ser T304S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HSPG2 Ala1098Thr A1098T not reviewed Insufficiently evaluated not reviewed unknown Array rs2501264 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - EPHB2 Val651Ala V651A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCEB3 Val298Ile V298I not reviewed Insufficiently evaluated not reviewed unknown Array rs520713 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCEB3 Ala490Val A490V not reviewed Insufficiently evaluated not reviewed unknown Array rs550252 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LDLRAP1 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.418 Y - 3 - 2 N - - RPS6KA1 Asp123Asn D123N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM167B Met113Ile M113I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10624 0.000847138 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - LCK Ser54Cys S54C not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KIAA1522 Arg294Cys R294C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10268 0.00146085 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADC Pro148Ser P148S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.466 - - 3 - 1 N - - SFPQ Pro117Leu P117L not reviewed Insufficiently evaluated not reviewed unknown Array 1 22 0.0454545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSMB2 Ala130Val A130V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.066 - - 2 - 0 N - - C1ORF216 Asp141Asn D141N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RRAGC Asp194Gly D194G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 4 Y 2 N - - ZNF643 Arg243Thr R243T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.139 - - 3 - 0 N - - DPH2 Arg37Gly R37G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 2 N - - CCDC24 Val155Met V155M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PTCH2 Val503Ile V503I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PRDX1 Arg110His R110H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD54L Thr508Ile T508I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KNCN Gly42Ser G42S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFYVE9 Lys421Glu K421E not reviewed Insufficiently evaluated not reviewed unknown Array rs61753464 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - C1ORF175 Ser64Cys S64C not reviewed Insufficiently evaluated not reviewed unknown Array 24 9806 0.00244748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FGGY Val32Ala V32A not reviewed Insufficiently evaluated not reviewed unknown Array 5 7818 0.000639549 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TM2D1 Val116Ile V116I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - -4 - 1 N - - EFCAB7 Asp571Glu D571E not reviewed Insufficiently evaluated not reviewed unknown Array 172 10752 0.015997 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - RAVER2 Ser346Asn S346N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742612 21 9590 0.00218978 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.439 - - 0 - 1 N - - TNNI3K Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.139 - - 2 - 0 N - - GIPC2 Glu115Gly E115G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 6 Y 0 N - - COL24A1 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array 9 9574 0.000940045 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - CLCA2 Thr152Ile T152I not reviewed Insufficiently evaluated not reviewed unknown Array rs55736627 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - CLCA1 Pro690Thr P690T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 4 Y 0 N - - CLCA4 Val154Ile V154I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RBMXL1 Ala78Thr A78T not reviewed Insufficiently evaluated not reviewed unknown Array 146 10756 0.0135738 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBMXL1 Gly71Ala G71A not reviewed Insufficiently evaluated not reviewed unknown Array 1225 10752 0.113932 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - GBP5 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732537 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.199 - - 1 - 0 N - - NM_014839 Thr706Ile T706I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 3 - 1 N - - C1ORF59 Asn358Asp N358D not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKNAD1 Leu352Val L352V not reviewed Insufficiently evaluated not reviewed unknown Array rs11580913 1140 10758 0.105968 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - RSBN1 Cys747Arg C747R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 8 Y 2 N - - DCLRE1B Asp462Asn D462N not reviewed Insufficiently evaluated not reviewed unknown Array rs28381079 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - VANGL1 Glu347Ala E347A not reviewed Insufficiently evaluated not reviewed unknown Array rs34059106 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - FAM72B Pro129Thr P129T not reviewed Insufficiently evaluated not reviewed unknown Array 343 9374 0.0365906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ANKRD35 Glu286Gly E286G not reviewed Insufficiently evaluated not reviewed unknown Array 331 10758 0.0307678 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - CGN Arg265Cys R265C not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CGN Glu608Gly E608G not reviewed Insufficiently evaluated not reviewed unknown Array rs16833349 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUFT1 Val13Leu V13L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - OAZ3 Val126Ala V126A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RORC Glu435Gly E435G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - TCHH Arg1331Pro R1331P not reviewed Insufficiently evaluated not reviewed unknown Array 2 9736 0.000205423 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR Gly965Arg G965R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRNR Gly823Ala G823A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DENND4B Ser805Gly S805G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - FAM189B Phe126Tyr F126Y not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEMA4A Arg561His R561H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 1 N - - SMG5 Ile151Val I151V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM79 Thr2Ile T2I not reviewed Insufficiently evaluated not reviewed unknown Array rs34671330 51 10756 0.00474154 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.433 - - 3 - 1 N - - C1ORF182 Thr95Ile T95I not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FCRL3 Asp61Asn D61N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - AX746507 Cys156Gly C156G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD1A Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR10T2 Val16Ala V16A not reviewed Insufficiently evaluated not reviewed unknown Array rs6660222 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.486 - - 2 - 1 N - - CCDC19 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array rs62640918 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OLFML2B Thr704Ile T704I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - FMO4 Arg238Gln R238Q not reviewed Insufficiently evaluated not reviewed unknown Array rs28369895 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - C1ORF105 Met97Val M97V not reviewed Insufficiently evaluated not reviewed unknown Array rs16844498 545 10758 0.05066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ASTN1 Pro719Ala P719A not reviewed Insufficiently evaluated not reviewed unknown Array rs34590604 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LHX4 Glu129Lys E129K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.977 Y - 0 - 3 N - - AL136902 Lys397Arg K397R not reviewed Insufficiently evaluated not reviewed unknown Array rs61737272 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RGS16 Asn52Lys N52K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMC1 Val901Met V901M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - HMCN1 Met2327Ile M2327I not reviewed Insufficiently evaluated not reviewed unknown Array rs12067376 210 10758 0.0195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - -1 - 3 N - - RGS18 Arg45Gly R45G not reviewed Insufficiently evaluated not reviewed unknown Array rs35623527 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - NM_001104548 Leu42Ile L42I not reviewed Insufficiently evaluated not reviewed unknown Array rs74155498 113 9820 0.0115071 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CR621662 Ala196Gly A196G not reviewed Insufficiently evaluated not reviewed unknown Array rs61737772 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TATDN3 Ile237Ser I237S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 5 Y 0 N - - CENPF Arg382Lys R382K not reviewed Insufficiently evaluated not reviewed unknown Array 72 10756 0.00669394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ITPKB Asn565Ser N565S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OBSCN Arg1313Gln R1313Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - AX747246 Ala5Asp A5D not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIF26B Val1038Met V1038M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10274 9.7333e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - SMYD3 Asn365Ser N365S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2L2 Ala107Ser A107S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - -1 - 0 N - - OR2M5 Thr23Ala T23A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OR2M5 Arg220Pro R220P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - OR2M5 Arg235His R235H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - OR2T10 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - AK097474 Thr22Arg T22R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF18 Asp1844Val D1844V not reviewed Insufficiently evaluated not reviewed unknown Array 13 9668 0.00134464 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF18 Ser2067Phe S2067F not reviewed Insufficiently evaluated not reviewed unknown Array 43 9950 0.00432161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DHTKD1 Met241Leu M241L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.876 - - -3 - 2 N - - RPP38 Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - ITGA8 His392Arg H392R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - KIAA1217 Gly1074Ser G1074S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - YME1L1 Ala683Val A683V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTCHD3 Gln513Pro Q513P not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - ANKRD30A Ala792Ser A792S not reviewed Insufficiently evaluated not reviewed unknown Array 30 9396 0.00319285 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR13A1 Ala255Gly A255G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - WDFY4 Val1837Ala V1837A not reviewed Insufficiently evaluated not reviewed unknown Array 26 3234 0.00803958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C10ORF71 Gln211His Q211H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10068 0.00387366 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IPMK Ser299Asn S299N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHOBTB1 Thr545Ile T545I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - EIF4EBP2 Asn77Ser N77S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 1 N - - SLC29A3 Asn334Ser N334S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TTC18 Lys519Asn K519N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 1 - 1 N - - DUSP13 Ala151Glu A151E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - LIPN Arg354Ser R354S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - LIPM Leu274Ser L274S not reviewed Insufficiently evaluated not reviewed unknown Array rs3910680 31 3234 0.00958565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP26C1 Ser440Pro S440P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 3 - 0 N - - PDE6C Thr68Ile T68I not reviewed Insufficiently evaluated not reviewed unknown Array rs62642544 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDE6C Glu834Gly E834G not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 2 N - - NOC3L Tyr134Cys Y134C not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SEC31B Ser756Asn S756N not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEC31B Ser527Arg S527R not reviewed Insufficiently evaluated not reviewed unknown Array rs17113157 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SEC31B Pro381His P381H not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - HPS6 Thr710Ala T710A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.849 - Y 1 - 2 N - - ITPRIP Glu320Gly E320G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - CASP7 Gly45Glu G45E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC18A2 Arg274Trp R274W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - LHPP Gln140His Q140H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - -1 - 1 N - - BCCIP Ile53Val I53V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - ADAM8 Glu587Lys E587K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFITM5 Thr93Met T93M not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.304 - - 2 - 1 N - - PHRF1 Arg158Gln R158Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 9914 0.00181561 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - MUC6 Val1105Met V1105M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC2 Thr1278Ser T1278S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10068 9.9324e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC5AC Gln2136Arg Q2136R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10050 0.000895522 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Ser2650Phe S2650F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10608 0.00169683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CR591411 Pro184Leu P184L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR591411 Glu103Gly E103G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ART5 Arg139Pro R139P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR52I2 Arg85Trp R85W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 7 Y 0 N - - OR52B6 Leu47Pro L47P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR52E4 Arg301Gln R301Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.359 - - 0 - 1 N - - OR10A5 Leu96Phe L96F not reviewed Insufficiently evaluated not reviewed unknown Array rs7934823 259 10758 0.0240751 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.108 - - 0 - 0 N - - LYVE1 Val315Met V315M not reviewed Insufficiently evaluated not reviewed unknown Array rs7948666 323 10758 0.0300242 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.819 - - 0 - 1 N - - DKK3 Gly346Glu G346E not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MICAL2 Phe581Ile F581I not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.892 - - 2 - 2 N - - BTBD10 Pro26Thr P26T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 4 Y 1 N - - SPTY2D1 Val324Ile V324I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - -4 - 1 N - - CAT Leu176Met L176M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - DGKZ Leu60Phe L60F not reviewed Insufficiently evaluated not reviewed unknown Array 8 9558 0.000836995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTCH2 Arg68His R68H not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - AGBL2 Ala891Val A891V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4C3 Met168Ile M168I not reviewed Insufficiently evaluated not reviewed unknown Array rs12794960 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4C3 Ile244Thr I244T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735142 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR9G9 Val46Met V46M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLYATL2 Val176Leu V176L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10226 0.00205359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - STX3 Ile63Val I63V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - MS4A4A Gln28Arg Q28R not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - ZP1 Glu415Lys E415K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - VWCE Met392Val M392V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - ZBTB3 Arg307Ser R307S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 3 - 1 N - - CAPN1 Thr103Ala T103A not reviewed Insufficiently evaluated not reviewed unknown Array rs17885718 64 10082 0.00634795 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 1 - 2 N - - TIGD3 Thr292Ser T292S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSGA10IP Asp24Glu D24E not reviewed Insufficiently evaluated not reviewed unknown Array 68 10310 0.00659554 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSGA10IP His95Leu H95L not reviewed Insufficiently evaluated not reviewed unknown Array 225 9950 0.0226131 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TSGA10IP Arg236Ser R236S not reviewed Insufficiently evaluated not reviewed unknown Array rs7927388 229 9816 0.0233293 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSGA10IP Ser291Asn S291N not reviewed Insufficiently evaluated not reviewed unknown Array rs7927826 232 10178 0.0227943 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSGA10IP Arg304Pro R304P not reviewed Insufficiently evaluated not reviewed unknown Array rs7927841 226 10296 0.0219503 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SART1 Glu192Lys E192K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.331 - - 0 - 1 N - - RIN1 Val546Ile V546I not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - -4 - 1 N - - PPFIA1 Ala758Val A758V not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.092 - - 2 - 0 N - - C11ORF59 Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INPPL1 Lys303Asn K303N not reviewed Insufficiently evaluated not reviewed unknown Array rs17847215 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - UCP2 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P4HA3 Tyr120Cys Y120C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 6 Y 2 N - - TSKU Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - RSF1 Thr762Ile T762I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - ODZ4 Pro867Thr P867T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10692 0.000187055 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCF11 Ile190Val I190V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9612 0.000832292 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - -4 - 1 N - - PANX1 Ile112Phe I112F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CWF19L2 Pro56Thr P56T not reviewed Insufficiently evaluated not reviewed unknown Array rs608634 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKK1 Arg445His R445H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.272 - - 1 - 1 N - - CR610619 Arg61Leu R61L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF202 His193Tyr H193Y not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - -1 - 1 N - - OR10S1 Ile230Thr I230T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ERC1 Leu130Arg L130R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 6 Y 1 N - - ANO2 Arg476Cys R476C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10144 0.00108438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF384 Pro119Leu P119L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10744 0.000465376 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 7 Y 1 N - - C1S Arg383Cys R383C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 8 Y 2 N - - FOXJ2 Ser315Ala S315A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10756 0.00585719 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C3AR1 Val136Ala V136A not reviewed Insufficiently evaluated not reviewed unknown Array rs11567806 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - PRB1 Ala132Pro A132P not reviewed Insufficiently evaluated not reviewed unknown Array 31 10602 0.00292398 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF71 Gly165Ser G165S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741740 73 9662 0.00755537 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C12ORF35 Val1486Met V1486M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10750 0.000837209 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCD2 Arg582His R582H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC2A13 Val361Ala V361A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_015899 His166Tyr H166Y not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - -1 - 1 N - - ARID2 Leu1448Phe L1448F not reviewed Insufficiently evaluated not reviewed unknown Array rs61741940 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM186B Arg818Trp R818W not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - RACGAP1 Gly196Arg G196R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 6 Y 0 N - - KRT75 Arg335Trp R335W not reviewed Insufficiently evaluated not reviewed unknown Array rs2232397 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HOXC12 Pro187Leu P187L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - 7 Y 1 N - - RDH5 Thr121Ile T121I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - TIMELESS Lys1114Glu K1114E not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSD17B6 Glu67Lys E67K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - TMEM194A Arg86Gln R86Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIG3 His902Arg H902R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - 1 - 1 N - - IL22 Ser158Gly S158G not reviewed Insufficiently evaluated not reviewed unknown Array rs2227507 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - LRRC10 Leu174Pro L174P not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - CNOT2 Ser99Asn S99N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NAV3 Leu1491Ile L1491I not reviewed Insufficiently evaluated not reviewed unknown Array 106 9668 0.010964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - LRRIQ1 Thr1209Pro T1209P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FGD6 Glu1184Asp E1184D not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - APAF1 Asp809Val D809V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.861 - - 8 Y 2 N - - SLC5A8 Gly111Arg G111R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - BC039467 Val64Gly V64G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - 8 Y 0 N - - RFX4 Arg708Cys R708C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WSCD2 Val119Ala V119A not reviewed Insufficiently evaluated not reviewed unknown Array rs1426355 36 9984 0.00360577 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - C12ORF34 Ser395Thr S395T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC63 Pro444Leu P444L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 7 Y 0 N - - C12ORF51 Asn3000Ser N3000S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF51 His1811Gln H1811Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TPCN1 Arg731Trp R731W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - NOS1 Pro155Leu P155L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9772 0.000204666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SRRM4 Cys368Tyr C368Y not reviewed Insufficiently evaluated not reviewed unknown Array 164 10052 0.0163152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR66 Glu181Gly E181G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9594 0.000312695 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - B3GNT4 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NCOR2 Thr2216Pro T2216P not reviewed Insufficiently evaluated not reviewed unknown Array rs1472840 118 10034 0.01176 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCOR2 Ala2011Val A2011V not reviewed Insufficiently evaluated not reviewed unknown Array 54 9976 0.00541299 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCOR2 Gly1559Ser G1559S not reviewed Insufficiently evaluated not reviewed unknown Array 1 7624 0.000131164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC15A4 Ser279Ile S279I not reviewed Insufficiently evaluated not reviewed unknown Array rs35439692 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - SFSWAP Ser435Thr S435T not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZMYM5 Asp59Del D59Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NBEA Ala1643Thr A1643T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FREM2 Ser1654Arg S1654R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KIAA0564 Asp462Asn D462N not reviewed Insufficiently evaluated not reviewed unknown Array rs61744773 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DGKH Gly636Arg G636R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - ESD Thr267Ala T267A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - 1 - 0 N - - PCDH9 Ser569Asn S569N not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLITRK6 Ser728Leu S728L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SLITRK6 Gly550Arg G550R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - LIG4 Ala797Ser A797S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.574 - - -1 - 1 N - - IRS2 Pro1309Ser P1309S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10344 0.000290023 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - TFDP1 Glu398Asp E398D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF23 Lys116Gln K116Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56025822 2 76 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STRN3 Met631Thr M631T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR5A Ala1647Gly A1647G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9696 0.000309405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR5A Arg197His R197H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744823 71 10064 0.00705485 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MIA2 Tyr155His Y155H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FSCB Leu685Pro L685P not reviewed Insufficiently evaluated not reviewed unknown Array rs8008803 98 10756 0.00911119 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FSCB Ser684Pro S684P not reviewed Insufficiently evaluated not reviewed unknown Array rs8008805 98 10756 0.00911119 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SDCCAG1 Val576Ile V576I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -4 - 0 N - - PTGDR Leu202Gly L202G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF135 Asn518Lys N518K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNE2 Asn4418Lys N4418K not reviewed Insufficiently evaluated not reviewed unknown Array rs36021513 229 10758 0.0212865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD51L1 Ile322Thr I322T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 3 - 2 N - - SIPA1L1 Ser1210Asn S1210N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - PAPLN Gln509Lys Q509K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NUMB Val451Ile V451I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM161B ArgCys131LeuArg RC131LR not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF45 Met36Val M36V not reviewed Insufficiently evaluated not reviewed unknown Array rs34995157 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTLL5 Ala592Thr A592T not reviewed Insufficiently evaluated not reviewed unknown Array rs11848004 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF145 Ala451Val A451V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STON2 Ala904Thr A904T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF102 Phe931Leu F931L not reviewed Insufficiently evaluated not reviewed unknown Array 344 10758 0.0319762 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINA9 Lys157Gln K157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61740030 14 10056 0.0013922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SERPINA12 Arg301Cys R301C not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 8 Y 2 N - - C14ORF139 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF839 Arg565Trp R565W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF153 Val3Ala V3A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733762 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASPG Ala309Glu A309E not reviewed Insufficiently evaluated not reviewed unknown Array rs61743275 45 10436 0.004312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - KIF26A Met230Thr M230T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10058 0.000198846 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.23 - - 2 - 1 N - - AX746996 Ser57Thr S57T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK2 Pro2491Leu P2491L not reviewed Insufficiently evaluated not reviewed unknown Array 167 10124 0.0164955 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - FAN1 Glu437Gly E437G not reviewed Insufficiently evaluated not reviewed unknown Array 155 10756 0.0144106 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 6 Y 0 N - - ARHGAP11A Pro900Arg P900R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 5 Y 0 N - - ARHGAP11A Ser954Phe S954F not reviewed Insufficiently evaluated not reviewed unknown Array rs35809294 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 0 N - - BC109367 Leu34Pro L34P not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPINT1 Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OIP5 Ile196Val I196V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10750 0.00483721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RPAP1 Arg137Trp R137W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - RPAP1 Ser3Leu S3L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731588 182 10756 0.0169208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - MGA Lys940Glu K940E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - PLA2G4F Lys717Arg K717R not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZFP106 Ser1181Cys S1181C not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBR1 Asn1247Lys N1247K not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LCMT2 Val67Leu V67L not reviewed Insufficiently evaluated not reviewed unknown Array rs45552436 38 10104 0.00376089 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - ZSCAN29 Phe660Cys F660C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.837 - - 4 Y 1 N - - CATSPER2 Thr430Arg T430R not reviewed Insufficiently evaluated not reviewed unknown Array 97 10754 0.0090199 1 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - CATSPER2 Phe367Leu F367L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.797 - Y 0 - 2 N - - PATL2 Leu315Arg L315R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DUOXA1 Arg174His R174H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - SEMA6D Phe624Cys F624C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 4 Y 2 N - - GNB5 Ala213Val A213V not reviewed Insufficiently evaluated not reviewed unknown Array rs34637551 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 2 - 0 N - - WDR72 Gln479His Q479H not reviewed Insufficiently evaluated not reviewed unknown Array rs34123953 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - -1 - 1 N - - UNC13C Val1440Ile V1440I not reviewed Insufficiently evaluated not reviewed unknown Array 22 9758 0.00225456 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - -4 - 0 N - - NEDD4 Val185Asp V185D not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CGNL1 Ile1134Thr I1134T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSP90AB4P Ile488Val I488V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CILP Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEGF11 Val547Ile V547I not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - DIS3L Arg312His R312H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNAPC5 Val84Ile V84I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - -4 - 0 N - - NR2E3 Val232Ile V232I not reviewed Insufficiently evaluated not reviewed unknown Array rs1805023 64 10090 0.00634291 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - LMAN1L Leu437Phe L437F not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.438 - - 0 - 1 N - - SCAPER Ala1139Thr A1139T not reviewed Insufficiently evaluated not reviewed unknown Array rs3743176 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRNB4 Asn41Ser N41S not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - BNC1 Ser787Gly S787G not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPS11 Gln51Lys Q51K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MCTP2 Arg340His R340H not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - SPATA8 Leu15Val L15V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS17 Pro783Leu P783L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM8A Gly698Ser G698S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - SOLH Arg40Gln R40Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - CACNA1H Gly1111Arg G1111R not reviewed Insufficiently evaluated not reviewed unknown Array rs59529743 21 9184 0.00228659 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - NUBP2 Arg149Cys R149C not reviewed Insufficiently evaluated not reviewed unknown Array 65 10752 0.00604539 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - IGFALS Arg493His R493H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - NOXO1 Arg64Trp R64W not reviewed Insufficiently evaluated not reviewed unknown Array rs34505807 20 10700 0.00186916 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GRIN2A Glu427Lys E427K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.412 - - 0 - 1 N - - SNX29 Glu417Lys E417K not reviewed Insufficiently evaluated not reviewed unknown Array 182 10102 0.0180162 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - GPRC5B Asp207Asn D207N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - -1 - 2 N - - TNRC6A Ala1948Thr A1948T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10736 0.0016766 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - 1 - 0 N - - NM_018690 Ala445Thr A445T not reviewed Insufficiently evaluated not reviewed unknown Array rs61738751 15 10266 0.00146113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MVP Ala178Thr A178T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - TBX6 Pro337Leu P337L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10712 0.00252054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.189 - - 7 Y 0 N - - ZNF843 Thr158Asn T158N not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC135 Arg534Cys R534C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.628 - - 8 Y 1 N - - CNGB1 Ser293Asn S293N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10146 0.000492805 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - GOT2 Arg393Gln R393Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.084 - - 0 - 0 N - - NRN1L Pro108Arg P108R not reviewed Insufficiently evaluated not reviewed unknown Array 235 10756 0.0218483 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 5 Y 2 N - - ST3GAL2 Arg248Gln R248Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.506 - - 0 - 1 N - - FUK Arg285Lys R285K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -3 - 0 N - - FTSJD1 Arg635Trp R635W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCAR1 Gly450Val G450V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739233 127 10692 0.011878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ATMIN Thr279Ala T279A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - HSD17B2 Thr240Ser T240S not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - KIAA0182 Ser429Leu S429L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - ZNF469 Leu1431Arg L1431R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3232 0.000309405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - ZNF469 Glu2807Gln E2807Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 3216 0.00062189 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -2 - 0 N - - ZC3H18 Ala116Val A116V not reviewed Insufficiently evaluated not reviewed unknown Array 107 10756 0.00994794 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDT1 Arg440Trp R440W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BC160930 Gly77Val G77V not reviewed Insufficiently evaluated not reviewed unknown Array 2 32 0.0625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - C16ORF3 Cys100Ser C100S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GEMIN4 Glu329Lys E329K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10388 0.00115518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEMIN4 Gln258Arg Q258R not reviewed Insufficiently evaluated not reviewed unknown Array rs61753060 126 10610 0.0118756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GLOD4 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1C Leu127Val L127V not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0664 Ala704Val A704V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - ITGAE Glu955Lys E955K not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP6 Leu121Ser L121S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP6 Gly125Arg G125R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP6 Arg126Lys R126K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - USP6 Gln128Lys Q128K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP1 Ile1263Thr I1263T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TNK1 Ser596Asn S596N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10292 0.00106879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALOX15B Gly275Arg G275R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - RANGRF Gly184Val G184V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 8 Y 2 N - - SLC25A35 Thr263Asn T263N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYH8 Val62Ile V62I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - MYH1 Ala1821Gly A1821G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - TEKT3 Leu237Ser L237S not reviewed Insufficiently evaluated not reviewed unknown Array 50 10754 0.00464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.347 - - 6 Y 1 N - - EU446727 Arg218His R218H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHRS7B Thr97Ile T97I not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLC13A2 Val501Ile V501I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - -4 - 0 N - - SEZ6 Ala392Pro A392P not reviewed Insufficiently evaluated not reviewed unknown Array rs61737977 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ATAD5 Asn1767Ser N1767S not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GAS2L2 Pro288Leu P288L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.72 - - 7 Y 1 N - - C17ORF66 Arg563Gln R563Q not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNRG Val685Ala V685A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CDK12 Gly909Glu G909E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GSDMA Thr98Met T98M not reviewed Insufficiently evaluated not reviewed unknown Array 41 10066 0.00407312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - 2 - 0 N - - KRT26 Tyr220His Y220H not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRT39 Ser86Asn S86N not reviewed Insufficiently evaluated not reviewed unknown Array 67 10750 0.00623256 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KRTAP4-5 Thr84Ser T84S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10472 0.00114591 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRT33A Cys29Tyr C29Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STAT5A Gln36Arg Q36R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 1 N - - NAGLU Arg228Gln R228Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.229 Y - 0 - 2 N - - TMEM101 Phe233Ser F233S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - ITGA2B Arg399Gln R399Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10746 0.00083752 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ACBD4 Arg197Gln R197Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XYLT2 Ala570Thr A570T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPN3 Val121Ile V121I not reviewed Insufficiently evaluated not reviewed unknown Array rs9905497 161 10758 0.0149656 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCC3 Arg1286Gly R1286G not reviewed Insufficiently evaluated not reviewed unknown Array rs11568593 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.102 - - 6 Y 0 N - - ABCC3 Pro1412Thr P1412T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - WFIKKN2 Arg8Pro R8P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10750 0.00362791 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 5 Y 1 N - - KIF2B Cys12Arg C12R not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CLTC Asp568His D568H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 3 - 2 N - - INTS2 Ile855Leu I855L not reviewed Insufficiently evaluated not reviewed unknown Array 55 9620 0.00571726 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.423 - - -2 - 1 N - - MARCH10 Lys242Thr K242T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MARCH10 Ser206Leu S206L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 6 Y 2 N - - KCNH6 Val302Met V302M not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 2 N - - KCNH6 Glu640Lys E640K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - ICAM2 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array rs5503 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BPTF Val1557Ala V1557A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM104A Ser144Ile S144I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10164 0.000393545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ICT1 Leu77Phe L77F not reviewed Insufficiently evaluated not reviewed unknown Array rs10512599 284 10758 0.026399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - LLGL2 Gly1011Ala G1011A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - BC033247 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs1670997 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EVPL Ile1686Phe I1686F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST6GALNAC1 Leu350Met L350M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - -3 - 2 N - - AK057217 Glu384Lys E384K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGSH Ser309Asn S309N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.137 Y - 0 - 1 N - - AATK Phe1100Val F1100V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9386 0.000213083 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AATK Arg793Ser R793S not reviewed Insufficiently evaluated not reviewed unknown Array 116 10148 0.0114308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 3 - 0 N - - C17ORF56 Ser155Phe S155F not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM105 Gly90Glu G90E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NPLOC4 Thr578Met T578M not reviewed Insufficiently evaluated not reviewed unknown Array 67 10322 0.00649099 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - P4HB Tyr94Cys Y94C not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - FASN Ala1688Thr A1688T not reviewed Insufficiently evaluated not reviewed unknown Array 2 8896 0.00022482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC57 Ala412Pro A412P not reviewed Insufficiently evaluated not reviewed unknown Array 40 10448 0.00382848 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYOM1 Thr154Met T154M not reviewed Insufficiently evaluated not reviewed unknown Array 21 9672 0.00217121 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP28 Cys524Tyr C524Y not reviewed Insufficiently evaluated not reviewed unknown Array 266 10706 0.0248459 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MIB1 Ile571Thr I571T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - RBBP8 Lys357Asn K357N not reviewed Insufficiently evaluated not reviewed unknown Array rs34678569 61 10756 0.00567125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CDH2 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array rs17495042 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DSC3 Gly830Ser G830S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.926 - - 2 - 2 N - - DSG4 Pro669Ser P669S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 3 - 2 N - - DSG3 Gln32Leu Q32L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.797 - - 5 Y 1 N - - TRAPPC8 Ile1189Val I1189V not reviewed Insufficiently evaluated not reviewed unknown Array rs36034613 90 10756 0.00836742 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C18ORF34 Arg630Gln R630Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62622499 78 9418 0.00828201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB7C Ala101Thr A101T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 1 - 2 N - - ALPK2 Ile153Val I153V not reviewed Insufficiently evaluated not reviewed unknown Array 275 10562 0.0260367 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - POLRMT Met323Ile M323I not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - C19ORF21 Arg125His R125H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10754 0.00344058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF6 Ser521Ile S521I not reviewed Insufficiently evaluated not reviewed unknown Array 2 7096 0.000281848 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADAT3 Asp269Ala D269A not reviewed Insufficiently evaluated not reviewed unknown Array 31 10716 0.00289287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - MKNK2 Val458Leu V458L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIP5K1C Arg386His R386H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10740 0.00102421 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - TJP3 Met918Thr M918T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFR2 Arg675His R675H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10584 0.00122827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 1 - 1 N - - ZFR2 Pro370Thr P370T not reviewed Insufficiently evaluated not reviewed unknown Array 12 9822 0.00122175 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.742 - - 4 Y 1 N - - PLIN4 Ala463Val A463V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Gly461Ser G461S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 2 - 0 N - - BC032415 Arg3Cys R3C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SAFB Thr511Ala T511A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - C19ORF70 Pro50Ala P50A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A23 Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SH2D3A Val235Met V235M not reviewed Insufficiently evaluated not reviewed unknown Array rs10404295 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Arg12411Gly R12411G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9888 0.000303398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Ala9520Thr A9520T not reviewed Insufficiently evaluated not reviewed unknown Array rs61995681 77 10036 0.00767238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001013640 Ile286Met I286M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DOCK6 Val1420Leu V1420L not reviewed Insufficiently evaluated not reviewed unknown Array rs8108071 109 10002 0.0108978 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF433 Asn632Asp N632D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10750 0.00139535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - -1 - 0 N - - C19ORF53 Ala92Ser A92S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LPHN1 Ala759Thr A759T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - ZNF333 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - OR1I1 Gly306Ser G306S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ILVBL Arg423Trp R423W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - CYP4F12 His242Tyr H242Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61731192 73 10752 0.00678943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - CYP4F12 Val270Leu V270L not reviewed Insufficiently evaluated not reviewed unknown Array rs57578760 209 10744 0.0194527 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 0 - 1 N - - CYP4F12 Arg272Gln R272Q not reviewed Insufficiently evaluated not reviewed unknown Array 192 10744 0.0178704 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR10H3 Leu131Gln L131Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - CYP4F2 Ala16Pro A16P not reviewed Insufficiently evaluated not reviewed unknown Array 52 10746 0.00483901 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - HAUS8 Pro372Leu P372L not reviewed Insufficiently evaluated not reviewed unknown Array rs8108996 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO9B Thr1684Asn T1684N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10388 0.000481324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO9B Gly1686Arg G1686R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734357 122 10386 0.0117466 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAST3 Ser754Phe S754F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 5 Y 1 N - - PIK3R2 Ala548Val A548V not reviewed Insufficiently evaluated not reviewed unknown Array rs10413655 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1683 Pro227Ser P227S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1683 Ser10Phe S10F not reviewed Insufficiently evaluated not reviewed unknown Array 40 10740 0.00372439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C19ORF50 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TM6SF2 Thr288Ile T288I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GATAD2A Arg481Cys R481C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF486 Glu354Ala E354A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF486 Thr422Ile T422I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10724 0.000186497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF681 Ser139Arg S139R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10748 0.000837365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCNE1 Asn260Ile N260I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750863 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 7 Y 2 N - - GPI Gly139Ser G139S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.282 - - 2 - 1 N - - ZNF568 Gly62Arg G62R not reviewed Insufficiently evaluated not reviewed unknown Array rs1625128 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF607 Arg571His R571H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIPA1L3 Ala1561Pro A1561P not reviewed Insufficiently evaluated not reviewed unknown Array rs61735490 69 10428 0.0066168 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - ZNF780B Cys528Phe C528F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CYP2A7 Ile268Met I268M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - CEACAM6 Thr276Met T276M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLC3 Thr126Met T126M not reviewed Insufficiently evaluated not reviewed unknown Array 13 9696 0.00134076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - CD3EAP Pro38Ser P38S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CD3EAP Lys174Asn K174N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - CD3EAP Thr344Met T344M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 2 - 0 N - - VASP Asn158His N158H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RSPH6A Ala50Gly A50G not reviewed Insufficiently evaluated not reviewed unknown Array rs12459916 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - HIF3A Gln343Gly Q343G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC8 Ser487Leu S487L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - AK094504 Gly86Arg G86R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEIS3P1 Gly52Ser G52S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNA7 Pro187Ser P187S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HRC GlySer220ArgLys GS220RK not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HRC Arg217Gly R217G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - NR1H2 Ala232Val A232V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 2 - 1 N - - FAM71E1 Gly83Val G83V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - ACPT Pro95Leu P95L not reviewed Insufficiently evaluated not reviewed unknown Array 369 9048 0.0407825 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - KLK2 Gln22Arg Q22R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - LIM2 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIGLEC8 Arg306Trp R306W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 7 Y 0 N - - SIGLEC12 Thr160Met T160M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743134 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.638 - - 2 - 1 N - - HAS1 Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array 5 9700 0.000515463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF649 Glu464Lys E464K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731262 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - ZNF613 Ser235Arg S235R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - ZNF610 Ser114Asn S114N not reviewed Insufficiently evaluated not reviewed unknown Array rs61734960 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - ZNF468 Ser59Leu S59L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF765 Arg290Cys R290C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMC4 Asn168Lys N168K not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRB5 Pro550Ser P550S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10750 0.00474419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRA2 His424Gln H424Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LILRB4 Ala434Gly A434G not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 1 - 0 N - - KIR3DL2 Trp247Arg W247R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - KIR3DL2 Ile252Met I252M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPRH Gly191Arg G191R not reviewed Insufficiently evaluated not reviewed unknown Array 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF835 Asp332Asn D332N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ZNF264 Thr366Asn T366N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 1 - 0 N - - ZNF134 Thr133Met T133M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10122 0.000493973 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF135 Tyr270Cys Y270C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - TPO Ala426Gly A426G not reviewed Insufficiently evaluated not reviewed unknown Array rs61758082 49 8806 0.00556439 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.074 Y - 1 - 1 N - - PDIA6 Lys437Arg K437R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -3 - 2 N - - NBAS Ala1738Thr A1738T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAD51AP2 Glu605Lys E605K not reviewed Insufficiently evaluated not reviewed unknown Array 46 9266 0.00496439 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - APOB Thr741Asn T741N not reviewed Insufficiently evaluated not reviewed unknown Array rs12714192 281 10758 0.0261201 5 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ATAD2B Glu931Asp E931D not reviewed Insufficiently evaluated not reviewed unknown Array 33 9622 0.00342964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - -2 - 0 N - - UBXN2A Asp77Asn D77N not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.406 - - -1 - 1 N - - RBKS Ile85Leu I85L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10672 0.00524738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -2 - 0 N - - CAPN14 Arg425His R425H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYADML Met92Val M92V not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FEZ2 Leu283Val L283V not reviewed Insufficiently evaluated not reviewed unknown Array rs34499846 42 9618 0.00436681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX57 Asp1197Glu D1197E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SOCS5 Glu42Asp E42D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLRAQ1 Lys439Arg K439R not reviewed Insufficiently evaluated not reviewed unknown Array rs35301844 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.809 - - -3 - 1 N - - RTN4 Ser848Cys S848C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10750 0.00148837 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - SMEK2 Arg522His R522H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AFTPH Ser80Asn S80N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SPRED2 Asp270Asn D270N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - FBXO41 Arg584His R584H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733550 253 9914 0.0255195 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR54 Tyr102Cys Y102C not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - CCDC142 Arg142Cys R142C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10014 0.000798881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 8 Y 2 N - - AUP1 Arg277His R277H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10024 0.00159617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MRPS5 Arg419His R419H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - ZNF2 Met74Ile M74I not reviewed Insufficiently evaluated not reviewed unknown Array 40 9796 0.0040833 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - FAM178B His230Pro H230P not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD36 Asn123Asp N123D not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD36 Phe129Val F129V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LYG2 Arg34Cys R34C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - MERTK Arg421Gln R421Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.33 Y - 0 - 2 N - - POLR1B Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC20A1 Ala351Thr A351T not reviewed Insufficiently evaluated not reviewed unknown Array 236 10758 0.0219372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - MYO7B Lys736Asn K736N not reviewed Insufficiently evaluated not reviewed unknown Array 48 9994 0.00480288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - TUBA3E Ala150Thr A150T not reviewed Insufficiently evaluated not reviewed unknown Array 346 10754 0.0321741 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPN18 Val95Met V95M not reviewed Insufficiently evaluated not reviewed unknown Array 300 10758 0.0278862 5 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR148 Arg323Cys R323C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - RAB3GAP1 Leu223Phe L223F not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.143 Y - 0 - 1 N - - LCT Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FMNL2 Val606Ala V606A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.195 - - 2 - 0 N - - GALNT13 Val397Ile V397I not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TANC1 Gly241Ala G241A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - 1 - 0 N - - NOSTRIN Pro431Leu P431L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730433 101 9718 0.0103931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRP2 Ser2105Ala S2105A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 - Y -1 - 1 N - - C2ORF77 Ala405Gly A405G not reviewed Insufficiently evaluated not reviewed unknown Array rs61754930 200 9554 0.0209336 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO3B Arg918Trp R918W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.842 - - 7 Y 1 N - - WIPF1 GlyGlyGlyGlyGly86Del GGGGG86Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SESTD1 Val586Ala V586A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - FAM171B Pro250Ser P250S not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PMS1 Arg919His R919H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 1 - 0 N - - DNAH7 Ala3753Thr A3753T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - DNAH7 Val3433Met V3433M not reviewed Insufficiently evaluated not reviewed unknown Array 8 9778 0.000818163 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 1 N - - DNAH7 Ser322Cys S322C not reviewed Insufficiently evaluated not reviewed unknown Array 6 9508 0.000631047 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.177 - - 3 - 0 N - - HECW2 Pro530Ser P530S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ICA1L Phe198Ser F198S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CXCR2P1 Tyr56His Y56H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLCD4 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10172 0.000294927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF142 Ser32Cys S32C not reviewed Insufficiently evaluated not reviewed unknown Array rs61733650 10 9814 0.00101895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF25 Pro307Leu P307L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 7 Y 2 N - - ANKZF1 Pro570Ser P570S not reviewed Insufficiently evaluated not reviewed unknown Array 85 9772 0.00869832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - CHPF Arg419Gln R419Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10742 0.00074474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - OBSL1 Arg1043Cys R1043C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10702 0.000373761 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC4A3 Asn564Ser N564S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1486 Ser468Ile S468I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10134 0.000888099 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 5 Y 2 N - - TRIP12 Ala199Ser A199S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NMUR1 Ser385Asn S385N not reviewed Insufficiently evaluated not reviewed unknown Array 62 10756 0.00576422 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SNPH Arg381His R381H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIRPB2 Glu45Lys E45K not reviewed Insufficiently evaluated not reviewed unknown Array 3 7820 0.000383631 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 0 - 2 N - - TMC2 Arg797His R797H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - CHGB Val274Met V274M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - LRRN4 Cys179Tyr C179Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 6 Y 0 N - - C20ORF7 Asn150Ser N150S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEL1L2 Gln412Pro Q412P not reviewed Insufficiently evaluated not reviewed unknown Array 50 9694 0.00515783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 4 Y 2 N - - KIF16B His1022Arg H1022R not reviewed Insufficiently evaluated not reviewed unknown Array rs34336583 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BFSP1 His336Pro H336P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - RRBP1 Ala601Val A601V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RIN2 Val548Met V548M not reviewed Insufficiently evaluated not reviewed unknown Array 58 10556 0.00549451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - CST9L Ser62Ile S62I not reviewed Insufficiently evaluated not reviewed unknown Array rs61743019 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CST9 Phe58Tyr F58Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CST5 Val19Met V19M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENTPD6 Arg82Gln R82Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35296506 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - REM1 Glu208Gln E208Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2233833 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.207 - - -2 - 1 N - - TTLL9 Gly398Glu G398E not reviewed Insufficiently evaluated not reviewed unknown Array 133 9964 0.0133481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NECAB3 Arg216Cys R216C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10026 0.00149611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.513 - - 8 Y 1 N - - GGT7 Ala275Ser A275S not reviewed Insufficiently evaluated not reviewed unknown Array 29 10740 0.00270019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -1 - 0 N - - SLA2 Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array rs34952630 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 1 - 2 N - - GHRH Ile36Leu I36L not reviewed Insufficiently evaluated not reviewed unknown Array rs28932185 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - -2 - 2 N - - RALGAPB Pro1455Leu P1455L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - L3MBTL1 Arg583Lys R583K not reviewed Insufficiently evaluated not reviewed unknown Array rs35845394 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - GTSF1L Glu7Lys E7K not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - EYA2 Ser126Pro S126P not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARFGEF2 Leu1043Phe L1043F not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTGIS Val344Met V344M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - SLC9A8 Gly449Ser G449S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 2 - 0 N - - NFATC2 Ala838Pro A838P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCAS1 Ala257Val A257V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBP1 Ala353Thr A353T not reviewed Insufficiently evaluated not reviewed unknown Array rs61749015 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - APCDD1L His279Asn H279N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - SYCP2 Pro1008Leu P1008L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741892 126 10740 0.0117318 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 7 Y 1 N - - SYCP2 Ala102Val A102V not reviewed Insufficiently evaluated not reviewed unknown Array 135 10744 0.0125652 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - CABLES2 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - RTEL1 Pro1212Leu P1212L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SAMSN1 Gly63Ala G63A not reviewed Insufficiently evaluated not reviewed unknown Array rs34607574 349 9420 0.0370488 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.384 - - 1 - 1 N - - URB1 His76Tyr H76Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLIC6 Arg640Lys R640K not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CLDN14 Thr4Met T4M not reviewed Insufficiently evaluated not reviewed unknown Array 454 10308 0.0440435 6 0 7 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - NM_001001692 Trp22Leu W22L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RIPK4 Arg320Gln R320Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10746 9.3057e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR4 Lys91Asn K91N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF105 Lys129Gln K129Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ICOSLG Arg99His R99H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737085 45 10586 0.0042509 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - KRTAP10-7 Lys272Val K272V not reviewed Insufficiently evaluated not reviewed unknown Array 1 16 0.0625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - KRTAP10-10 Arg237His R237H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10752 0.00344122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - COL18A1 Val1455Leu V1455L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736805 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - FTCD Arg136Gln R136Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 10416 0.00345622 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.06 Y - 0 - 1 N - - AB020626 Pro117Ala P117A not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGCR14 Glu234Lys E234K not reviewed Insufficiently evaluated not reviewed unknown Array rs62619780 221 10750 0.0205581 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DGCR8 Ser367Asn S367N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC065749 Leu89Val L89V not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - CHCHD10 Ala46Ser A46S not reviewed Insufficiently evaluated not reviewed unknown Array 29 9104 0.00318541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - -1 - 1 N - - ADORA2A Val275Ile V275I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001013618 Arg65Ile R65I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10750 0.00297674 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - INPP5J Arg299Gln R299Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - MCM5 Lys129Asn K129N not reviewed Insufficiently evaluated not reviewed unknown Array rs61731684 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - APOL4 Thr341Asn T341N not reviewed Insufficiently evaluated not reviewed unknown Array 330 10328 0.031952 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL4 Arg289Gln R289Q not reviewed Insufficiently evaluated not reviewed unknown Array 74 9726 0.00760847 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOL4 Arg277His R277H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730819 311 9774 0.0318191 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOBEC3A Asp180Glu D180E not reviewed Insufficiently evaluated not reviewed unknown Array rs61743667 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CYP2D7P1 Leu214Ser L214S not reviewed Insufficiently evaluated not reviewed unknown Array rs4994474 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CYP2D7P1 GlyAsn210AlaAsp GN210AD not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFAM1 His137Tyr H137Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34296033 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - -1 - 2 N - - NUP50 Phe317Leu F317L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.773 - - 0 - 1 N - - RIBC2 Leu133Gln L133Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 5 Y 1 N - - CELSR1 Ser2964Leu S2964L not reviewed Insufficiently evaluated not reviewed unknown Array rs6008777 343 10752 0.031901 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - MIOX Val264Met V264M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - LMCD1 Arg364Cys R364C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - OXTR Leu206Val L206V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SATB1 Ser292Gly S292G not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NEK10 Ser298Thr S298T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - GADL1 Arg303Gln R303Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62636627 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCR4 Gly324Ser G324S not reviewed Insufficiently evaluated not reviewed unknown Array rs61736865 45 10756 0.00418371 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCD1 Arg293Cys R293C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CX3CR1 Tyr22Phe Y22F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF619 Leu132Val L132V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - ZNF619 Ser369Leu S369L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - TRAK1 Asp474Asn D474N not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC6A20 Pro353Leu P353L not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 7 Y 0 N - - LTF Arg627His R627H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - LTF Ile62Asn I62N not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 7 Y 0 N - - LRRC2 Pro318Leu P318L not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - KIF9 Ser65Pro S65P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 3 - 1 N - - CELSR3 Val2749Ile V2749I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10746 0.0035362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR6 Val560Ala V560A not reviewed Insufficiently evaluated not reviewed unknown Array rs61742101 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.215 - - 2 - 1 N - - IP6K1 Leu365Val L365V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK311093 Lys45Asn K45N not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH1 Arg597Cys R597C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734654 183 10598 0.0172674 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH1 Gln770Glu Q770E not reviewed Insufficiently evaluated not reviewed unknown Array 173 10466 0.0165297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GNL3 Ile216Lys I216K not reviewed Insufficiently evaluated not reviewed unknown Array rs34296002 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRTM1 Val294Ile V294I not reviewed Insufficiently evaluated not reviewed unknown Array rs61735203 203 10758 0.0188697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -4 - 2 N - - GXYLT2 Ser99Asn S99N not reviewed Insufficiently evaluated not reviewed unknown Array 21 9798 0.00214329 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.113 - - 0 - 0 N - - GXYLT2 Ala113Val A113V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - GXYLT2 Asp368Glu D368E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.245 - - -2 - 1 N - - PPP4R2 Arg290Cys R290C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 8 Y 0 N - - OR5H15 Ile150Val I150V not reviewed Insufficiently evaluated not reviewed unknown Array rs62269706 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR5H15 Ala151Gly A151G not reviewed Insufficiently evaluated not reviewed unknown Array rs62269707 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR5H15 Ile153Leu I153L not reviewed Insufficiently evaluated not reviewed unknown Array rs62266797 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DPPA4 Thr9Ala T9A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATG3 Ile126Leu I126L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10704 0.00467115 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - C3ORF30 Ile258Phe I258F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF1 His99Tyr H99Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR156 GluGly686AspArg EG686DR not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC12A8 Ser79Phe S79F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10638 0.00169205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CCDC37 Pro345Leu P345L not reviewed Insufficiently evaluated not reviewed unknown Array rs6795815 233 10756 0.0216623 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - UROC1 Ala531Thr A531T not reviewed Insufficiently evaluated not reviewed unknown Array rs35516512 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - RPN1 Phe203Leu F203L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - COL6A5 Ser406Arg S406R not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.278 - - 3 - 1 N - - COL6A5 Ala896Ser A896S not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -1 - 2 N - - COL6A5 Glu2456Val E2456V not reviewed Insufficiently evaluated not reviewed unknown Array 79 9746 0.00810589 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - COL6A6 Ile1984Val I1984V not reviewed Insufficiently evaluated not reviewed unknown Array 32 9826 0.00325667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NPHP3 Ser1314Thr S1314T not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - -2 - 1 N - - ESYT3 Arg526Trp R526W not reviewed Insufficiently evaluated not reviewed unknown Array 42 9760 0.00430328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 7 Y 0 N - - VEPH1 Arg500Lys R500K not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MCCC1 Leu598Met L598M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.374 Y - -3 - 2 N - - HTR3D Val133Ala V133A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AY358227 Ser118Leu S118L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LPP Arg388Cys R388C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - SENP5 His380Arg H380R not reviewed Insufficiently evaluated not reviewed unknown Array rs35207324 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIGZ Arg518His R518H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 1 - 1 N - - TMEM129 Tyr112Ile Y112I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OTOP1 Pro42Ser P42S not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001040071 Leu70Phe L70F not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC149 Lys103Asn K103N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR19 Asp908His D908H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 3 - 2 N - - LIMCH1 Ala1040Pro A1040P not reviewed Insufficiently evaluated not reviewed unknown Array rs57547885 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF35 Thr15Ala T15A not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CXCL1 Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - NAAA Asn107Lys N107K not reviewed Insufficiently evaluated not reviewed unknown Array rs34751328 28 10126 0.00276516 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 1 - 0 N - - ART3 Pro152Thr P152T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 4 Y 2 N - - ART3 Gly303Asp G303D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 4 Y 1 N - - RASGEF1B Gln22His Q22H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - AFF1 Ile833Met I833M not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSP90AB3P Gly321Ala G321A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - GPRIN3 Asp23Asn D23N not reviewed Insufficiently evaluated not reviewed unknown Array rs61741093 56 10756 0.0052064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - -1 - 0 N - - FAM190A Val734Ala V734A not reviewed Insufficiently evaluated not reviewed unknown Array 45 3234 0.0139147 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - SEC24D Pro843Leu P843L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SEC24D Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - FHDC1 Ser1042Ala S1042A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - FSTL5 Gly664Arg G664R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - FSTL5 Ser248Arg S248R not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - ANP32C Lys133Glu K133E not reviewed Insufficiently evaluated not reviewed unknown Array rs61734697 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - DDX60 Ser1269Asn S1269N not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX60L Val957Ala V957A not reviewed Insufficiently evaluated not reviewed unknown Array 130 9626 0.0135051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - SH3RF1 His596Tyr H596Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - SPATA4 Tyr149Cys Y149C not reviewed Insufficiently evaluated not reviewed unknown Array rs17062589 104 10740 0.00968343 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 6 Y 2 N - - C4ORF47 Ala126Thr A126T not reviewed Insufficiently evaluated not reviewed unknown Array rs61745989 33 3234 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC110 Gly233Glu G233E not reviewed Insufficiently evaluated not reviewed unknown Array 39 10750 0.00362791 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SLC6A18 Ser280Leu S280L not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.605 - - 6 Y 1 N - - SLC6A18 Met404Val M404V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A18 Met409Ile M409I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ADAMTS16 Arg789Cys R789C not reviewed Insufficiently evaluated not reviewed unknown Array rs9313105 47 9748 0.0048215 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.107 - - 8 Y 0 N - - SRD5A1 Gly128Ser G128S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 2 - 2 N - - CDH12 Thr539Lys T539K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 3 - 2 N - - PDZD2 Pro1370Ser P1370S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - OSMR Glu388Lys E388K not reviewed Insufficiently evaluated not reviewed unknown Array rs35727755 112 10758 0.0104109 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.862 - - 0 - 2 N - - C7 Gly245Arg G245R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRPS30 Thr396Arg T396R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - MAP1B Val106Ile V106I not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - F2RL2 Leu15Ser L15S not reviewed Insufficiently evaluated not reviewed unknown Array rs2069649 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - THBS4 Arg562Ser R562S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 3 - 0 N - - FAM151B Val109Ala V109A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZCCHC9 Ser232Pro S232P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - ARRDC3 Asp406Glu D406E not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIN1 Asn515Asp N515D not reviewed Insufficiently evaluated not reviewed unknown Array 26 9444 0.00275307 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.629 - - -1 - 1 N - - PRR16 Ile255Val I255V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF474 Ser199Pro S199P not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF474 Ile223Thr I223T not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 3 - 1 N - - TGFBI Ala549Thr A549T not reviewed Insufficiently evaluated not reviewed unknown Array 15 9908 0.00151393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 1 - 1 N - - NM_016459 Gly77Glu G77E not reviewed Insufficiently evaluated not reviewed unknown Array 13 9796 0.00132707 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 6 Y 0 N - - TMEM173 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 1 - 2 N - - PCDHB4 Pro671Leu P671L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10496 9.5274e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 7 Y 0 N - - KIAA0141 Lys223Glu K223E not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - PCDH12 Glu1118Asp E1118D not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - PCDH12 His980Tyr H980Y not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - -1 - 2 N - - PCDH12 Gly187Ser G187S not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - PCDH12 Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - TIGD6 Leu260Pro L260P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - HMGXB3 Asn920Ser N920S not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC36A3 Arg390His R390H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 1 - 1 N - - HAND1 Ala68Pro A68P not reviewed Insufficiently evaluated not reviewed unknown Array 2 9676 0.000206696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPRIN1 Thr450Ser T450S not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 0 N - - GPRIN1 Ala356Thr A356T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPRIN1 Gly337Ala G337A not reviewed Insufficiently evaluated not reviewed unknown Array rs10037225 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - MXD3 Arg188Gln R188Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - DDX41 Leu277Val L277V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC040901 Val46Leu V46L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D9B Thr948Ile T948I not reviewed Insufficiently evaluated not reviewed unknown Array 171 10756 0.0158981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - C6ORF195 Ala44Thr A44T not reviewed Insufficiently evaluated not reviewed unknown Array 64 10082 0.00634795 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAGE1 Ala428Thr A428T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9582 0.000417449 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAGE1 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 124 9950 0.0124623 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HIVEP1 Ser2295Phe S2295F not reviewed Insufficiently evaluated not reviewed unknown Array 32 10212 0.00313357 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HIVEP1 Val2331Leu V2331L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10002 0.0029994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDGFL1 Asp134Glu D134E not reviewed Insufficiently evaluated not reviewed unknown Array 27 9748 0.0027698 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.263 - - -2 - 1 N - - CMAH His412Tyr H412Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11964476 2 128 0.015625 2 0 2 1 1 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - This is a pseudogene; variants are of no consequence. CMAH Asn380Ser N380S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734336 2 128 0.015625 2 0 2 1 1 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - This is a pseudogene; variants are of no consequence. HIST1H2AA Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIST1H1T Asn150Ser N150S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 0 - 2 N - - HLA-C Leu119Phe L119F not reviewed Insufficiently evaluated not reviewed unknown Array rs1071649 1 102 0.00980392 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF47 Arg200Gln R200Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LY6G6F Val148Leu V148L not reviewed Insufficiently evaluated not reviewed unknown Array 1 7524 0.000132908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - TNXB Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 9592 0.00802752 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - ANKS1A Ala343Thr A343T not reviewed Insufficiently evaluated not reviewed unknown Array rs34483936 40 10758 0.00371816 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC26A8 Ile498Val I498V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - -4 - 1 N - - DNAH8 Arg3418Trp R3418W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 7 Y 2 N - - KIF6 Glu665Gly E665G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - CCND3 Pro134Ser P134S not reviewed Insufficiently evaluated not reviewed unknown Array rs3218089 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - CUL9 Gln297Lys Q297K not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - -2 - 0 N - - TNFRSF21 Ala387Thr A387T not reviewed Insufficiently evaluated not reviewed unknown Array 286 10758 0.0265849 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CENPQ Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 1 - 2 N - - C6ORF142 Gly152Val G152V not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TINAG Ser25Ala S25A not reviewed Insufficiently evaluated not reviewed unknown Array rs34700914 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RWDD2A Pro115Leu P115L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - CASP8AP2 Ser435Phe S435F not reviewed Insufficiently evaluated not reviewed unknown Array 16 9628 0.00166182 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - PRDM1 Arg250Pro R250P not reviewed Insufficiently evaluated not reviewed unknown Array rs17066588 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDC40 Thr268Ala T268A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFX6 Asn796Asp N796D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RNF217 Phe207Leu F207L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOA7 Asn329His N329H not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - L3MBTL3 Ser622Ile S622I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SAMD3 Ala54Thr A54T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - SNORA33 Leu86Phe L86F not reviewed Insufficiently evaluated not reviewed unknown Array rs13207755 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NHSL1 Met1357Ile M1357I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UST His91Tyr H91Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - MTHFD1L Arg563His R563H not reviewed Insufficiently evaluated not reviewed unknown Array rs61748674 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - FBXO5 Gly170Ser G170S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBM16 Ala395Val A395V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT4 Asp1379Asn D1379N not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR27 Ala792Thr A792T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9832 0.000406834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2W1 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array 7 9082 0.000770755 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - IQCE Cys371Arg C371R not reviewed Insufficiently evaluated not reviewed unknown Array rs61736917 43 10392 0.0041378 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 8 Y 0 N - - SDK1 Gly850Arg G850R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - TNRC18 Glu1176Asp E1176D not reviewed Insufficiently evaluated not reviewed unknown Array 37 10138 0.00364964 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.683 - - -2 - 1 N - - AK027618 Thr682Ile T682I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNX13 Arg757Cys R757C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9572 0.000104471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ITGB8 Pro356Thr P356T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - AK096334 Glu141Lys E141K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPSR1 Ile315Thr I315T not reviewed Insufficiently evaluated not reviewed unknown Array rs10270766 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 3 - 1 N - - NM_001128060 Val54Leu V54L not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Ser3660Leu S3660L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - HPVC1 Pro154Ser P154S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HPVC1 Cys30Tyr C30Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POMZP3 Thr183Arg T183R not reviewed Insufficiently evaluated not reviewed unknown Array rs17401021 150 10710 0.0140056 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCLO Gln1899Pro Q1899P not reviewed Insufficiently evaluated not reviewed unknown Array 142 9590 0.0148071 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1324L Gly514Ala G514A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF804B Thr964Ala T964A not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKAP9 Gln3031Arg Q3031R not reviewed Insufficiently evaluated not reviewed unknown Array rs61757673 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNGT1 Leu53Pro L53P not reviewed Insufficiently evaluated not reviewed unknown Array 2 70 0.0285714 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - PEG10 Arg446His R446H not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF789 Ser308Asn S308N not reviewed Insufficiently evaluated not reviewed unknown Array rs61740734 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 0 - 1 N - - CYP3A7 Ile246Val I246V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP3A7 Phe203Leu F203L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 0 - 2 N - - PILRA Pro258Ser P258S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ZAN Pro584Leu P584L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9662 0.000413992 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC3A Ala655Thr A655T not reviewed Insufficiently evaluated not reviewed unknown Array rs73163797 1 20 0.05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Thr983Asn T983N not reviewed Insufficiently evaluated not reviewed unknown Array 354 10758 0.0329057 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Thr3020Asn T3020N not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC17 Met3174Thr M3174T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLOD3 His510Tyr H510Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35929039 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - UPK3BL Asp182Asn D182N not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -1 - 0 N - - DOCK4 Ile1786Thr I1786T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ST7OT4 Pro59Thr P59T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPAM1 Leu206Met L206M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.611 - - -3 - 1 N - - GRM8 Ile265Thr I265T not reviewed Insufficiently evaluated not reviewed unknown Array rs17150343 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - GCC1 Ala274Thr A274T not reviewed Insufficiently evaluated not reviewed unknown Array rs34887879 164 10758 0.0152445 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCC1 Cys87Trp C87W not reviewed Insufficiently evaluated not reviewed unknown Array rs2285348 161 10758 0.0149656 5 0 6 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PODXL Ser86Cys S86C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CALD1 Ser171Phe S171F not reviewed Insufficiently evaluated not reviewed unknown Array 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADCK2 Val478Ala V478A not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - WEE2 Lys8Thr K8T not reviewed Insufficiently evaluated not reviewed unknown Array rs35672788 234 9676 0.0241835 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - MGAM Thr1033Ala T1033A not reviewed Insufficiently evaluated not reviewed unknown Array 12 9944 0.00120676 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NM_001126313 Gly171Glu G171E not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GIMAP7 Thr225Ala T225A not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GIMAP2 Arg24Thr R24T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 3 - 2 N - - XRCC2 Phe270Val F270V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10752 0.00260417 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - RBM33 Val769Leu V769L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCAPG2 Asn614Asp N614D not reviewed Insufficiently evaluated not reviewed unknown Array rs61740623 79 9542 0.00827919 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - WDR60 Ile799Val I799V not reviewed Insufficiently evaluated not reviewed unknown Array rs61733022 235 9810 0.0239551 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AB209502 Gln2507Glu Q2507E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRSS55 Gly70Ala G70A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.878 - - 1 - 2 N - - PINX1 Lys325Del K325Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BLK Arg192Gly R192G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - NEIL2 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GFRA2 Cys8Phe C8F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - XPO7 Cys1047Arg C1047R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNFRSF10D Ser291Cys S291C not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOCK5 Leu986Phe L986F not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - 0 - 2 N - - KIF13B Asp335Asn D335N not reviewed Insufficiently evaluated not reviewed unknown Array 37 10082 0.00366991 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - -1 - 2 N - - RAB11FIP1 Ile612Val I612V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - TM2D2 Ala17Val A17V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - ADAM2 Gly293Glu G293E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 6 Y 1 N - - PXDNL Val559Leu V559L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10644 0.00234874 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - PXDNL Gln232Glu Q232E not reviewed Insufficiently evaluated not reviewed unknown Array 132 9692 0.0136195 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TGS1 Gly394Arg G394R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754978 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TGS1 Asn435Thr N435T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754980 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C8ORF45 Pro519Ser P519S not reviewed Insufficiently evaluated not reviewed unknown Array rs35871529 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PREX2 Pro1058Ser P1058S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - BC089453 Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC089453 Thr26Ile T26I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAPTM4B Pro310Leu P310L not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MATN2 Gly14Ala G14A not reviewed Insufficiently evaluated not reviewed unknown Array rs35804177 61 10078 0.00605279 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - UBR5 Thr2322Ser T2322S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KLF10 Pro284Arg P284R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.63 - - 5 Y 1 N - - BC071743 Pro40Leu P40L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FZD6 His140Tyr H140Y not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FZD6 Gly604Arg G604R not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FZD6 Ser620Thr S620T not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTBP Thr567Ser T567S not reviewed Insufficiently evaluated not reviewed unknown Array 197 10738 0.0183461 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NDUFB9 Arg47Leu R47L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - NR_002304 Ala2Val A2V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADCY8 Arg611Gly R611G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - TG Ala2296Thr A2296T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.191 Y - 1 - 1 N - - MAPK15 Pro289Leu P289L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10334 0.000193535 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SCRIB Gly998Glu G998E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10388 9.6264e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 6 Y 0 N - - EPPK1 Thr2074Met T2074M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARP10 Pro1012Ala P1012A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10486 0.000286095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.402 - - 2 - 1 N - - PARP10 Thr333Ala T333A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP10 Pro328Ala P328A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OPLAH Gly889Arg G889R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10026 0.00129663 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OPLAH Asn440Asp N440D not reviewed Insufficiently evaluated not reviewed unknown Array 11 10090 0.00109019 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OPLAH Thr301Ser T301S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9876 0.000506277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CPSF1 Thr248Met T248M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF66 Asp92His D92H not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLIS3 Val265Phe V265F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KDM4C Ser534Arg S534R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - AK123194 Met45Val M45V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FREM1 Leu212Arg L212R not reviewed Insufficiently evaluated not reviewed unknown Array 47 9636 0.00487754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - PSIP1 Ala484Pro A484P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 2 - 1 N - - BNC2 Gln769Lys Q769K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - CREB3 Pro344Leu P344L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXO10 Arg44Cys R44C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FRMPD1 Pro1137Leu P1137L not reviewed Insufficiently evaluated not reviewed unknown Array rs62640012 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD18A Ala277Glu A277E not reviewed Insufficiently evaluated not reviewed unknown Array rs632200 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD18A Arg265Gln R265Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - MAMDC2 Met243Val M243V not reviewed Insufficiently evaluated not reviewed unknown Array rs61998197 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - TRPM3 Pro1681Leu P1681L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK122718 Ser210Phe S210F not reviewed Insufficiently evaluated not reviewed unknown Array 72 4586 0.0157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK122718 Arg482Gln R482Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 4586 0.00218055 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRUNE2 Ala1977Thr A1977T not reviewed Insufficiently evaluated not reviewed unknown Array 86 7820 0.0109974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS13A Ser629Gly S629G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - FAM75D1 Thr1285Met T1285M not reviewed Insufficiently evaluated not reviewed unknown Array 15 9974 0.00150391 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - FRMD3 Met15Thr M15T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10226 0.0019558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - SLC28A3 Lys405Gln K405Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - CR613032 Gly81Val G81V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DAPK1 Gly1405Val G1405V not reviewed Insufficiently evaluated not reviewed unknown Array rs36220450 209 9932 0.0210431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CR612236 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FGD3 Pro91Arg P91R not reviewed Insufficiently evaluated not reviewed unknown Array 54 10024 0.00538707 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - 5 Y 1 N - - FAM120A Ala832Ser A832S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - HIATL2 Arg137Cys R137C not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CTSL2 Val167Leu V167L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.733 - - 0 - 1 N - - HEMGN Asn157Lys N157K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 1 - 2 N - - KLF4 Asn32Ser N32S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACTL7B Thr346Ser T346S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10724 0.00205147 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - -2 - 1 N - - SVEP1 Pro3230Thr P3230T not reviewed Insufficiently evaluated not reviewed unknown Array rs16914992 193 9666 0.0199669 5 0 5 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - C9ORF119 Arg28Lys R28K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TRUB2 Pro79Leu P79L not reviewed Insufficiently evaluated not reviewed unknown Array rs2231630 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 7 Y 2 N - - COQ4 Arg125Cys R125C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 8 Y 0 N - - USP20 Gly297Arg G297R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - NM_013318 Ser901Del S901Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA0649 His405Tyr H405Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -1 - 2 N - - EHMT1 Gln75Glu Q75E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.836 Y - -2 - 2 N - - CACNA1B His2335Arg H2335R not reviewed Insufficiently evaluated not reviewed unknown Array 82 10206 0.00803449 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR593643 Ala300Val A300V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSF2RA Ser75Gly S75G not reviewed Insufficiently evaluated not reviewed unknown Array 125 10750 0.0116279 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - ASMT Val75Ala V75A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - DHRSX Gln114Leu Q114L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10750 0.00288372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - GYG2 Thr226Met T226M not reviewed Insufficiently evaluated not reviewed unknown Array 6 8760 0.000684931 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.766 - - 2 - 1 N - - REPS2 Gln418Leu Q418L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - PPP1R2P9 Thr59Met T59M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - PAGE1 Cys115Trp C115W not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DGKK Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array 25 7585 0.00329598 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM123B Gly62Val G62V not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.439 - - 8 Y 1 N - - MAGEC2 Val212Leu V212L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - SATL1 Gly128Asp G128D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 4 Y 0 N - - GPRASP2 Ile799Thr I799T not reviewed Insufficiently evaluated not reviewed unknown Array 1 8754 0.000114233 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - COL4A6 Gln152Glu Q152E not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ODZ1 Ala174Thr A174T not reviewed Insufficiently evaluated not reviewed unknown Array 13 8761 0.00148385 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRMD7 Gly559Ser G559S not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.941 - Y 2 - 3 N - - MAGEC1 Ser647Asn S647N not reviewed Insufficiently evaluated not reviewed unknown Array 70 8761 0.00798996 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNGA2 Asp118His D118H not reviewed Insufficiently evaluated not reviewed unknown Array rs6627455 132 8761 0.0150668 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 3 - 0 N - - NM_207107 Asp28Asn D28N not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF93 Tyr7Stop Y7X not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EPHA10 Leu818Shift L818Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM151A Pro383Shift P383Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM151A Trp273Stop W273X not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GBP7 Leu245Shift L245Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NTRK1 Pro302Ser P302S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 3 - 4 N - - IFI16 Ser132Shift S132Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CFHR5 Cys568Stop C568X not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - ASPM Leu2522Trp L2522W not reviewed Insufficiently evaluated not reviewed unknown Array rs1412640 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - ASPM Gln1736Glu Q1736E not reviewed Insufficiently evaluated not reviewed unknown Array rs62623455 94 10754 0.00874093 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ASPM Ile740Leu I740L not reviewed Insufficiently evaluated not reviewed unknown Array rs35203521 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ASPM Asn484Ser N484S not reviewed Insufficiently evaluated not reviewed unknown Array 87 10756 0.00808851 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ASPM Tyr462Cys Y462C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10728 0.001305 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ASPM Glu215Ala E215A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CD55 His242Shift H242Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMB3 Pro480Leu P480L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734494 39 10758 0.00362521 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 7 Y 4 N - - PITRM1 Gln91Shift Q91Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs33996077 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MASTL Thr464Shift T464Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PCDH15 Ala910Ser A910S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.792 Y Y -1 - 3 N - - LDB3 Lys251Arg K251R not reviewed Insufficiently evaluated not reviewed unknown Array rs34423165 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - GLUD1 Asp126Asn D126N not reviewed Insufficiently evaluated not reviewed unknown Array 95 10740 0.00884544 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FAS Ile184Val I184V not reviewed Insufficiently evaluated not reviewed unknown Array rs28362322 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -4 - 2 N - - MMP23A Arg8Shift R8Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FRG2B Arg160Shift R160Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71260106 3 46 0.0652174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR8U8 Met155Shift M155Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 98 0.0306122 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TCIRG1 Gly763GlyLeuGly G763GLG not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CPT1A Thr101Met T101M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731903 28 10758 0.00260271 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.155 Y Y 2 - 2 N - - BUD13 Val562Shift V562Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC036197 Thr60Shift T60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1C Gly1762Ser G1762S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - VWF Gly967Asp G967D not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.302 Y Y 4 Y 3 N - - PKP2 Asp785Asn D785N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - KRT83 Glu202Del E202Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - KRT5 Val211Met V211M not reviewed Insufficiently evaluated not reviewed unknown Array 114 10750 0.0106047 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.068 Y Y 0 - 2 N - - AK096472 Lys161Shift K161Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSPAN19 Gly19Stop G19X not reviewed Insufficiently evaluated not reviewed unknown Array 1 9032 0.000110717 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EIF2B1 Val142Met V142M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - SACS Lys2709Asn K2709N not reviewed Insufficiently evaluated not reviewed unknown Array 79 10756 0.00734474 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.035 Y Y 1 - 2 N - - FLT1 Met945Shift M945Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC122 Thr215Shift T215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C13ORF39 Lys258Shift K258Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 Arg933His R933H not reviewed Insufficiently evaluated not reviewed unknown Array rs34179031 222 10758 0.0206358 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RPGRIP1 Arg867Trp R867W not reviewed Insufficiently evaluated not reviewed unknown Array 18 9902 0.00181781 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - RTN1 Leu645Shift L645Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TGFB3 Ser55Asn S55N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.973 Y Y 0 - 4 N - - UBE3A Asn275Ser N275S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OCA2 Val834Met V834M not reviewed Insufficiently evaluated not reviewed unknown Array rs34704703 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.16 Y Y 0 - 2 N - - FMN1 Ser365Leu S365L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10232 0.00596169 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - FMN1 Thr294Ala T294A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9962 0.000301144 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 3 N - - ZFP106 Thr1153Shift T1153Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG11 Met22Val M22V not reviewed Insufficiently evaluated not reviewed unknown Array rs34255962 28 10358 0.00270322 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN1 Ala2025Ser A2025S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - RLBP1 Met10Lys M10K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.516 Y - 4 Y 2 N - - BLM Asn534Ser N534S not reviewed Insufficiently evaluated not reviewed unknown Array rs35224686 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - PKD1 Asn1034Ser N1034S not reviewed Insufficiently evaluated not reviewed unknown Array rs28681051 39 10752 0.00362723 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - COG8 Thr561Met T561M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10746 0.000651405 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FANCA Ser674Leu S674L not reviewed Insufficiently evaluated not reviewed unknown Array rs17232973 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - BC160930 Leu285Shift L285Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66705486 1 34 0.0294118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYBBP1A Gln1256Stop Q1256X not reviewed Insufficiently evaluated not reviewed unknown Array rs62620242 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CHRNE Arg390Trp R390W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10628 9.4091e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - PITPNM3 Arg493Trp R493W not reviewed Insufficiently evaluated not reviewed unknown Array 35 10752 0.00325521 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.666 Y - 7 Y 2 N - - ACADVL Lys103Arg K103R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - GUCY2D Gln1084Arg Q1084R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.27 Y Y 0 - 3 N - - TEKT3 Leu164Stop L164X not reviewed Insufficiently evaluated not reviewed unknown Array rs35201932 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NF1 Pro678Leu P678L not reviewed Insufficiently evaluated not reviewed unknown Array rs17881753 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.616 Y Y 7 Y 3 N - - KRT26 Arg462Stop R462X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP4-5 Arg172Shift R172Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5820391 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ETV4 Gln436Stop Q436X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MIF4GD Gln126Shift Q126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GCDH Ala362Asp A362D not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 5 Y 1 N - - ZNF675 Glu61Shift E61Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF573 Arg322Shift R322Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRX Pro298Ser P298S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10278 0.00262697 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.679 Y Y 3 - 3 N - - ZNF233 Asn205Shift N205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DHX34 His1035Shift H1035Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEACAM18 Arg27Stop R27X not reviewed Insufficiently evaluated not reviewed unknown Array 3 9874 0.000303828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NLRP12 Arg1016Stop R1016X not reviewed Insufficiently evaluated not reviewed unknown Array rs35064500 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COX6B2 Cys56Stop C56X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OTOF Ala975Thr A975T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.882 Y Y 1 - 4 N - - MPV17 His152Leu H152L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.476 Y - 6 Y 2 N - - XDH Arg576Trp R576W not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 7 Y 3 N - - ALMS1 Thr382Ala T382A not reviewed Insufficiently evaluated not reviewed unknown Array rs28730849 129 9708 0.013288 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COX5B Lys107Shift K107Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPAS2 Glu342Stop E342X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCB11 Glu1186Lys E1186K not reviewed Insufficiently evaluated not reviewed unknown Array rs1521808 87 9758 0.00891576 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.825 Y Y 0 - 3 N - - TTN Gly32379Asp G32379D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Ser30340Phe S30340F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - TTN Val9185Ala V9185A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL5A2 Gly831Ala G831A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MKKS Asn366Lys N366K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 1 - 2 N - - COL9A3 Ile443Val I443V not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y -4 - 2 N - - CBS Val425Met V425M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10682 0.000561692 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.738 Y Y 0 - 3 N - - LRP5L Gln26Stop Q26X not reviewed Insufficiently evaluated not reviewed unknown Array rs61740933 15 10752 0.00139509 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RANGAP1 Ala309Gly A309G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 Y Y 1 - 2 N - - RFTN1 Gly517Shift G517Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 52 0.0384615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MLH1 Val201Ile V201I benign Insufficiently evaluated benign dominant Array 1 128 0.0078125 1 0 1 1 0 0 Y - - - - - - 0 Y 0 Y Y - - - 0.024 Y Y -4 - 2 N - - ABHD14B Tyr62Shift Y62Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX747367 Gln186Stop Q186X not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CNTN3 Ala589Shift A589Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF717 Asp364Shift D364Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBLB Lys950Arg K950R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y -3 - 4 N - - NM_001123328 Glu85Stop E85X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PAK2 Asp173Shift D173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C4ORF42 Ile54Shift I54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CC2D2A Asp1166Asn D1166N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.019 Y Y -1 - 2 N - - CD38 Leu33Shift L33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BBS12 Arg484Lys R484K not reviewed Insufficiently evaluated not reviewed unknown Array rs35690634 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.157 Y Y -3 - 2 N - - VCAN Leu793Ser L793S not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.129 Y Y 6 Y 2 N - - GPR98 Arg3436Gly R3436G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.161 Y Y 6 Y 2 N - - GPR98 Pro4346Leu P4346L not reviewed Insufficiently evaluated not reviewed unknown Array 76 9640 0.00788382 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FAM81B Arg188Stop R188X not reviewed Insufficiently evaluated not reviewed unknown Array 1 9624 0.000103906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ALDH7A1 Thr398Ala T398A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DIAPH1 Phe1076Cys F1076C not reviewed Insufficiently evaluated not reviewed unknown Array 31 9534 0.00325152 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - HLA-H Pro226Leu P226L not reviewed Insufficiently evaluated not reviewed unknown Array rs7769370 4 118 0.0338983 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL11A2 Lys148Arg K148R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.924 Y Y -3 - 4 N - - PEX6 Ala979Val A979V not reviewed Insufficiently evaluated not reviewed unknown Array 69 10756 0.00641502 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PEX6 Ala549Val A549V not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - RUNX2 Asn457Ser N457S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GLYATL3 Arg86Stop R86X not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GJB7 Gly12Shift G12Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AHI1 Arg830Trp R830W not reviewed Insufficiently evaluated not reviewed unknown Array rs13312995 203 9456 0.0214679 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - VTA1 Leu283Shift L283Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PEX3 Tyr32Stop Y32X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - SYNE1 Thr5132Ile T5132I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - PARK2 Gln34Arg Q34R not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.989 Y Y 0 - 4 N - - GCK Thr432Ala T432A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ZNF679 Ser309Stop S309X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CD36 Asn53Shift N53Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SAMD9 Glu600Shift E600Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC26A4 Thr99Met T99M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.976 Y Y 2 - 4 N - - FLNC Thr1509Ala T1509A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LONRF1 Arg428Shift R428Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RP1 Leu1504Ser L1504S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10734 0.00102478 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 6 Y 1 N - - NBN Glu628Lys E628K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10738 0.00363196 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - VPS13B Arg2351Gln R2351Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61754113 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.894 Y Y 0 - 4 N - - EFR3A Asn526Shift N526Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TOPORS Arg903Cys R903C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 8 Y 3 N - - FANCG Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array rs61757385 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 8 Y 4 N - - TJP2 Leu937Pro L937P not reviewed Insufficiently evaluated not reviewed unknown Array rs28556975 104 10758 0.00966722 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.989 Y - 7 Y 3 N - - ROR2 Pro548Ser P548S not reviewed Insufficiently evaluated not reviewed unknown Array rs35764413 143 10758 0.0132924 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - PTCH1 Arg638His R638H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.376 Y Y 1 - 3 N - - XPA Lys183Shift K183Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - DFNB31 Arg295Cys R295C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PMPCA Asn306Ser N306S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 Y Y 0 - 2 N - - ABCB7 Gln68His Q68H not reviewed Insufficiently evaluated not reviewed unknown Array 36 8761 0.00410912 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - IDS Thr214Met T214M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736892 147 8761 0.0167789 2 0 3 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 2 - 2 N - - TAS1R3 Gly367Cys G367C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - ATAD3B Arg244Trp R244W not reviewed Insufficiently evaluated not reviewed unknown Array rs3979437 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GABRD Val193Ile V193I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.122 Y - -4 - 1 N - - DFFB Ala131Thr A131T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAMTA1 Gly1013Arg G1013R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - 6 Y 0 N - - VPS13D Leu1058Val L1058V not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - VPS13D Pro4339Ala P4339A not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FHAD1 Asp402Val D402V not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 8 Y 2 N - - CASP9 Leu275Met L275M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -3 - 2 N - - CASP9 Ile60Leu I60L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - AGMAT Tyr325Phe Y325F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.623 - - -4 - 1 N - - FBLIM1 Arg39Cys R39C not reviewed Insufficiently evaluated not reviewed unknown Array rs34375304 59 10748 0.00548939 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - CLCNKB Gln385Arg Q385R not reviewed Insufficiently evaluated not reviewed unknown Array rs35258749 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CROCC Pro493Leu P493L not reviewed Insufficiently evaluated not reviewed unknown Array 228 10346 0.0220375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - TMCO4 Ala534Gly A534G not reviewed Insufficiently evaluated not reviewed unknown Array 265 10758 0.0246328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PLA2G2E Arg71His R71H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729971 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - SH2D5 Gly184Ser G184S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745394 33 9830 0.00335707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - USP48 Ser733Asn S733N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - HSPG2 Arg1626His R1626H not reviewed Insufficiently evaluated not reviewed unknown Array rs41311989 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - HSPG2 Glu1378Lys E1378K not reviewed Insufficiently evaluated not reviewed unknown Array rs62642525 50 10672 0.00468516 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - RHD Ser333Asn S333N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9764 0.000102417 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - EXTL1 Gly250Ala G250A not reviewed Insufficiently evaluated not reviewed unknown Array rs34941925 233 10442 0.0223137 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM63 Asp2Glu D2E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -2 - 0 N - - CNKSR1 Arg418His R418H not reviewed Insufficiently evaluated not reviewed unknown Array 124 10380 0.0119461 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNKSR1 Arg605Gln R605Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP3K6 Met363Val M363V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - 0 - 2 N - - WASF2 Thr346Met T346M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1522 Ala689Thr A689T not reviewed Insufficiently evaluated not reviewed unknown Array 12 9770 0.00122825 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYCL1 TrpPro64CysThr WP64CT not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC6A9 His77Gln H77Q not reviewed Insufficiently evaluated not reviewed unknown Array 67 10090 0.00664024 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP4A22 Lys33Asn K33N not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - CYP4A22 Arg144Trp R144W not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - LEPR Thr699Met T699M not reviewed Insufficiently evaluated not reviewed unknown Array rs34499590 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 2 - 3 N - - C1ORF173 Thr768Ile T768I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731318 315 10758 0.0292805 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF173 Gln337Arg Q337R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF173 Leu270Val L270V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFI44L Arg109Cys R109C not reviewed Insufficiently evaluated not reviewed unknown Array rs273258 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ODF2L Arg438His R438H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA4 Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MYBPHL Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UBL4B Ala154Thr A154T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10750 0.00260465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.203 - - 1 - 1 N - - CHI3L2 Gly290Arg G290R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - OVGP1 ValSerHisGlnSerValSerPro535Del VSHQSVSP535Del not reviewed Insufficiently evaluated not reviewed unknown Array rs61741118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM33 Asn386Ser N386S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM33 Tyr309Phe Y309F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - TTF2 Leu495Phe L495F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737095 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - REG4 Met112Ile M112I not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.685 - - -1 - 1 N - - PDIA3P Ile243Val I243V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDIA3P Ala302Thr A302T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCNM1 Arg206Pro R206P not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 5 Y 2 N - - ZNF687 Gly775Ser G775S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - RFX5 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array rs2233843 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Gly914Ser G914S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNN3 Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array 31 9986 0.00310435 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PBXIP1 Arg144Cys R144C not reviewed Insufficiently evaluated not reviewed unknown Array 41 10748 0.00381466 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - LENEP Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - ADAM15 His80Leu H80L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKLR Glu277Lys E277K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - RUSC1 Ser180Leu S180L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 6 Y 2 N - - ETV3L Leu79Phe L79F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10748 0.000558243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - OR10K2 Gly253Ser G253S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR10K1 Thr74Met T74M not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 6 0 6 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - SPTA1 Ala766Thr A766T not reviewed Insufficiently evaluated not reviewed unknown Array rs11265047 17 9704 0.00175185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10J3 Ile175Met I175M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.555 - - -1 - 1 N - - BLZF1 Ser217Asn S217N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - C1ORF129 Arg386His R386H not reviewed Insufficiently evaluated not reviewed unknown Array 42 9946 0.0042228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD45 Asp133Gly D133G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RGS8 Thr113Ile T113I not reviewed Insufficiently evaluated not reviewed unknown Array rs34360993 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UCHL5 Ala322Thr A322T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF14 Lys74Glu K74E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - IGFN1 Val110Ile V110I not reviewed Insufficiently evaluated not reviewed unknown Array rs41304263 502 10758 0.0466629 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IGFN1 Ser229Arg S229R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743921 557 10756 0.0517851 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LGR6 Met347Ile M347I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -1 - 0 N - - MFSD4 Ser156Cys S156C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - IKBKE Glu515Asp E515D not reviewed Insufficiently evaluated not reviewed unknown Array rs41299015 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - -2 - 0 N - - IL24 His125Arg H125R not reviewed Insufficiently evaluated not reviewed unknown Array rs3093431 192 10758 0.0178472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 1 - 2 N - - CR1L Arg14Trp R14W not reviewed Insufficiently evaluated not reviewed unknown Array rs61739989 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 7 Y 2 N - - DTL Thr424Met T424M not reviewed Insufficiently evaluated not reviewed unknown Array rs61733816 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM71A Gly94Asp G94D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 4 Y 1 N - - CENPF Gln2262Arg Q2262R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LEFTY1 Leu92Ser L92S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10074 0.00198531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - JMJD4 Gly16Cys G16C not reviewed Insufficiently evaluated not reviewed unknown Array rs34560898 356 10108 0.0352196 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - PRSS38 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.295 - - 0 - 1 N - - OBSCN Thr2444Ser T2444S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10332 0.00367789 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - OBSCN Arg4770Cys R4770C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10726 0.00400895 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.65 - - 8 Y 1 N - - TRIM11 Ser461Phe S461F not reviewed Insufficiently evaluated not reviewed unknown Array 22 10754 0.00204575 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 5 Y 1 N - - URB2 Arg1111Cys R1111C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - PGBD5 Gly16Trp G16W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FMN2 Leu1380Val L1380V not reviewed Insufficiently evaluated not reviewed unknown Array 3 122 0.0245902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLD5 Asp434Asn D434N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF101 Asn818His N818H not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF695 Cys242Ser C242S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10028 0.000199441 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF124 Ser33Phe S33F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - OR2B11 Tyr98Cys Y98C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - OR11L1 Gly253Arg G253R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR2M5 Ala175Asp A175D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GTPBP4 Tyr150Phe Y150F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - PITRM1 Met595Val M595V not reviewed Insufficiently evaluated not reviewed unknown Array 11 9838 0.00111811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - BC129979 Val19Ile V19I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AKR1C4 Ala243Thr A243T not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SLC6A5 Thr417Ile T417I not reviewed Insufficiently evaluated not reviewed unknown Array rs34658946 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.413 - Y 3 - 2 N - - C10ORF18 His151Tyr H151Y not reviewed Insufficiently evaluated not reviewed unknown Array 64 9804 0.00652795 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C10ORF18 Thr590Ile T590I not reviewed Insufficiently evaluated not reviewed unknown Array 64 9578 0.00668198 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC033338 Thr88Arg T88R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CUBN Gln3334His Q3334H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - MYO3A Thr1311Ser T1311S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.09 Y - -2 - 1 N - - MARCH8 Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDFY4 Ser1400Leu S1400L not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - A1CF Ala558Ser A558S not reviewed Insufficiently evaluated not reviewed unknown Array rs36121229 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARID5B Thr675Met T675M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - MYPN Arg409His R409H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - KIAA1279 Glu23Gly E23G not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ADAMTS14 Ser270Leu S270L not reviewed Insufficiently evaluated not reviewed unknown Array rs61749230 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - CHST3 Arg387His R387H not reviewed Insufficiently evaluated not reviewed unknown Array 80 10184 0.00785546 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.762 - - 1 - 1 N - - SPOCK2 Pro12Leu P12L not reviewed Insufficiently evaluated not reviewed unknown Array 67 10404 0.00643983 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.362 - - 7 Y 1 N - - DNAJB12 Ala180Val A180V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - AK125684 Gly65Arg G65R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFIT1B Ala102Ser A102S not reviewed Insufficiently evaluated not reviewed unknown Array rs74146921 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - FRA10AC1 Lys258Gln K258Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7914441 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - TLL2 Ala610Asp A610D not reviewed Insufficiently evaluated not reviewed unknown Array rs61743685 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - FAM178A Lys467Glu K467E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF79 Leu616Phe L616F not reviewed Insufficiently evaluated not reviewed unknown Array rs35901897 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPRIP Thr297Met T297M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NRAP Gly422Glu G422E not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - BAG3 Pro63Ala P63A not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - BAG3 Pro380Ser P380S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - HMX3 Glu190Gly E190G not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - DOCK1 Thr1732Met T1732M not reviewed Insufficiently evaluated not reviewed unknown Array rs34175019 97 9718 0.00998148 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 1 N - - EBF3 Thr298Ala T298A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 1 - 1 N - - VENTX Leu3Phe L3F not reviewed Insufficiently evaluated not reviewed unknown Array 28 10494 0.00266819 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - EPS8L2 Pro244Leu P244L not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - MUC6 Pro1522Ser P1522S not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC5AC Ser2643Gly S2643G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10634 0.000470189 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Asn5998Asp N5998D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC22A18AS Gly139Arg G139R not reviewed Insufficiently evaluated not reviewed unknown Array 58 3234 0.0179344 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRGPRE Val94Met V94M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 0 - 2 N - - OR51E1 Ala159Ser A159S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - -1 - 1 N - - FXC1 Stop104Glu X104E not reviewed Insufficiently evaluated not reviewed unknown Array rs74055809 114 10718 0.0106363 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MRPL17 Arg153Leu R153L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - 6 Y 1 N - - ZNF215 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SCUBE2 Thr685Asn T685N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 1 - 1 N - - CSNK2A1 Val358Leu V358L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE3B Arg783Gln R783Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - INSC Arg417His R417H not reviewed Insufficiently evaluated not reviewed unknown Array 108 10242 0.0105448 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.655 - - 1 - 1 N - - PLEKHA7 Asn776Asp N776D not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.411 - - -1 - 1 N - - METT5D1 Ala149Thr A149T not reviewed Insufficiently evaluated not reviewed unknown Array rs11823114 288 10756 0.0267758 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 1 - 0 N - - DGKZ Val26Ala V26A not reviewed Insufficiently evaluated not reviewed unknown Array rs11820791 124 9302 0.0133305 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 2 - 0 N - - OR4B1 Val213Met V213M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731415 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.198 - - 0 - 0 N - - OR4A16 Met57Ile M57I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - OR4C16 Ala203Thr A203T not reviewed Insufficiently evaluated not reviewed unknown Array rs12288690 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - OR5B21 Met57Val M57V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 0 - 1 N - - LPXN Pro148Thr P148T not reviewed Insufficiently evaluated not reviewed unknown Array rs12271558 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 4 Y 2 N - - OR5A1 His59Arg H59R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - OR5A1 Asn242Thr N242T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - OR4D9 Ser75Ala S75A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 1 N - - BC132896 Gly146Val G146V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - INCENP Gly2Val G2V not reviewed Insufficiently evaluated not reviewed unknown Array rs1792947 249 10758 0.0231456 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - INTS5 Pro761Leu P761L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 7 Y 2 N - - ZBTB3 Ser455Ala S455A not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - -1 - 0 N - - SSSCA1 Thr21Met T21M not reviewed Insufficiently evaluated not reviewed unknown Array rs35971725 155 10758 0.0144079 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 2 N - - EHBP1L1 Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array 490 9962 0.0491869 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - SYT12 Tyr273Cys Y273C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 6 Y 1 N - - ADRBK1 Ala531Thr A531T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBC1D10C Ala321Thr A321T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10736 0.000279433 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRCAP Arg146Gln R146Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - TMEM134 Tyr57His Y57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - KRTAP5-8 Arg60Cys R60C not reviewed Insufficiently evaluated not reviewed unknown Array 55 10746 0.00511818 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL18BP Gln192His Q192H not reviewed Insufficiently evaluated not reviewed unknown Array 102 10568 0.00965178 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INPPL1 Pro169Thr P169T not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLCO2B1 Pro15Ser P15S not reviewed Insufficiently evaluated not reviewed unknown Array rs56837383 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 3 - 1 N - - ANKRD42 Ala355Gly A355G not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 0 N - - CCDC81 Arg365Ser R365S not reviewed Insufficiently evaluated not reviewed unknown Array rs34903369 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC67 Cys513Arg C513R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747195 101 9916 0.0101856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 8 Y 0 N - - PGR Gln536Pro Q536P not reviewed Insufficiently evaluated not reviewed unknown Array rs11571152 29 9076 0.00319524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 4 Y 1 N - - ANGPTL5 Thr268Met T268M not reviewed Insufficiently evaluated not reviewed unknown Array 324 10754 0.0301283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MMP7 Pro241Leu P241L not reviewed Insufficiently evaluated not reviewed unknown Array rs17886506 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - DYNC2H1 His1167Arg H1167R not reviewed Insufficiently evaluated not reviewed unknown Array 10 9488 0.00105396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.253 - - 1 - 1 N - - C11ORF92 Val62Phe V62F not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF88 Ser43Thr S43T not reviewed Insufficiently evaluated not reviewed unknown Array 190 10334 0.0183859 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LAYN His147Arg H147R not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HSPB2 Leu67His L67H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - DSCAML1 Val104Ala V104A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AMICA1 Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.693 - - 1 - 1 N - - TTC36 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - NLRX1 Glu192Lys E192K not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - GRIK4 Val703Met V703M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SORL1 Tyr1922Ser Y1922S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - OR6T1 Pro129Leu P129L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR10G7 Leu64Val L64V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - OR8G2 His172Tyr H172Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM45B Ile17Thr I17T not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNX19 Glu283Lys E283K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - NCAPD3 Asp662Asn D662N not reviewed Insufficiently evaluated not reviewed unknown Array rs35935780 115 10758 0.0106897 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC6A12 Glu20Lys E20K not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A13 Arg415Gln R415Q not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KDM5A Glu1558Val E1558V not reviewed Insufficiently evaluated not reviewed unknown Array 38 9520 0.0039916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KDM5A Pro1190Ala P1190A not reviewed Insufficiently evaluated not reviewed unknown Array rs2229353 30 9870 0.00303951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KDM5A Arg1031Ser R1031S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP3 Pro111Leu P111L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - NCAPD2 Ile634Thr I634T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 3 - 1 N - - CD163L1 Arg603Trp R603W not reviewed Insufficiently evaluated not reviewed unknown Array 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLEC6A Cys39Ser C39S not reviewed Insufficiently evaluated not reviewed unknown Array 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.844 - - 3 - 1 N - - M6PR Lys58Glu K58E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - KLRG1 Arg78Cys R78C not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 8 Y 0 N - - CCDC91 Arg411Cys R411C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KRT4 Thr209Met T209M not reviewed Insufficiently evaluated not reviewed unknown Array rs17119475 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - EIF4B Asp267Glu D267E not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ITGA5 Gln725Lys Q725K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.366 - - -2 - 1 N - - ITGA5 Gln615Lys Q615K not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MMP19 Arg103Cys R103C not reviewed Insufficiently evaluated not reviewed unknown Array rs17844794 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - DGKA Ala47Ser A47S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - IKZF4 Asn349Thr N349T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10106 0.000791608 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.458 - - 1 - 1 N - - E2F7 Val522Met V522M not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - E2F7 Arg38Pro R38P not reviewed Insufficiently evaluated not reviewed unknown Array 24 10750 0.00223256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NAV3 Gly955Glu G955E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - PPFIA2 Ile631Val I631V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPFIA2 Asn258Ser N258S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9476 0.000105529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEDD1 Arg635Ser R635S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - APAF1 Pro470Leu P470L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SLC5A8 Thr557Asn T557N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - SLC5A8 Phe10Leu F10L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10628 0.00818592 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.876 - - 0 - 2 N - - STAB2 Phe2387Leu F2387L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - SSH1 Arg513Gln R513Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10750 0.000465116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - FOXN4 Arg315Gln R315Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - UBE3B Tyr787Cys Y787C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRAFD1 Asp270Asn D270N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - -1 - 0 N - - OAS3 Val1087Met V1087M not reviewed Insufficiently evaluated not reviewed unknown Array rs45620632 23 9934 0.00231528 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX54 Gly803Ser G803S not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NM_207436 Arg85Leu R85L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRRM4 Ser579Phe S579F not reviewed Insufficiently evaluated not reviewed unknown Array rs56724849 23 8552 0.00268943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MLXIP Gly191Ser G191S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - CLIP1 Ala683Thr A683T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KNTC1 Ser72Gly S72G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9696 0.000309405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NM_001083900 Arg409Gln R409Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TPTE2 Met231Val M231V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - 0 - 1 N - - PARP4 Ser1407Arg S1407R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PABPC3 Lys615Glu K615E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - NUPL1 Ala174Gly A174G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 1 - 1 N - - SHISA2 Gly268Ser G268S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.491 - - 2 - 1 N - - RNF6 Glu380Val E380V not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 5 Y 2 N - - RNF6 Val203Glu V203E not reviewed Insufficiently evaluated not reviewed unknown Array rs7990167 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 5 Y 0 N - - MTUS2 Pro364Leu P364L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10286 0.00408322 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTRF1 Ser427Ala S427A not reviewed Insufficiently evaluated not reviewed unknown Array 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - -1 - 0 N - - DNAJC15 Val133Ile V133I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK057244 Leu352Ser L352S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - OR4M1 Ile157Thr I157T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PARP2 Ser161Asn S161N not reviewed Insufficiently evaluated not reviewed unknown Array rs3093905 115 9734 0.0118143 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - PARP2 Thr218Ala T218A not reviewed Insufficiently evaluated not reviewed unknown Array 37 9548 0.00387516 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ARHGEF40 Arg1498Gln R1498Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AB305734 Ser96Arg S96R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRP10 Ala575Thr A575T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10750 0.000651162 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYH6 Arg1636Cys R1636C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - C14ORF23 Gly134Trp G134W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EGLN3 Arg71Gln R71Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34347250 34 10738 0.00316632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.203 - - 0 - 1 N - - AK096898 Pro17Leu P17L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDHD1 Gly645Glu G645E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.797 - - 6 Y 1 N - - KIAA0586 Lys1019Gln K1019Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 9558 0.00324336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFYVE26 Val1422Met V1422M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.137 Y - 0 - 1 N - - SYNJ2BP Arg142Gln R142Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - ADAM20 Trp310Arg W310R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACOT2 Glu425Leu E425L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF45 Leu122Pro L122P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VRTN Ala459Thr A459T not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIN3 Pro962Ser P962S not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM181A Thr30Ser T30S not reviewed Insufficiently evaluated not reviewed unknown Array 194 10758 0.0180331 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OTUB2 Ser184Leu S184L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - C14ORF49 Arg220Trp R220W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C14ORF177 Glu68Lys E68K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLK1 Gln73Leu Q73L not reviewed Insufficiently evaluated not reviewed unknown Array rs34686110 273 10758 0.0253765 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPP1R13B Ile170Val I170V not reviewed Insufficiently evaluated not reviewed unknown Array 52 9634 0.00539755 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AHNAK2 Asp2638Asn D2638N not reviewed Insufficiently evaluated not reviewed unknown Array 28 9966 0.00280955 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - AHNAK2 Met1825Ile M1825I not reviewed Insufficiently evaluated not reviewed unknown Array 13 9738 0.00133498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - AHNAK2 Pro678Arg P678R not reviewed Insufficiently evaluated not reviewed unknown Array 138 9822 0.0140501 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 5 Y 1 N - - JAG2 Ala913Thr A913T not reviewed Insufficiently evaluated not reviewed unknown Array 102 10550 0.00966825 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001080841 Leu48Arg L48R not reviewed Insufficiently evaluated not reviewed unknown Array 5 124 0.0403226 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPRED1 Ile234Met I234M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.068 Y - -1 - 1 N - - RPUSD2 Arg400Trp R400W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CASC5 Ile1223Thr I1223T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9608 0.000208159 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CASC5 Asp2161Gly D2161G not reviewed Insufficiently evaluated not reviewed unknown Array 6 9532 0.000629458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZFYVE19 Pro8Ser P8S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10670 0.00140581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 3 - 1 N - - INO80 Glu938Gly E938G not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 6 Y 0 N - - OIP5 Ala57Thr A57T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10702 0.0039245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUSAP1 Glu318Lys E318K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - NDUFAF1 Ala171Val A171V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTK Ala613Pro A613P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SHC4 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - GALK2 Ile306Val I306V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C15ORF33 Ser475Cys S475C not reviewed Insufficiently evaluated not reviewed unknown Array 75 10668 0.00703037 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP8B4 Arg1116Gln R1116Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - MYO5C Ala400Val A400V not reviewed Insufficiently evaluated not reviewed unknown Array 86 10080 0.00853175 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.939 - - 2 - 2 N - - CGNL1 Glu840Asp E840D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - -2 - 1 N - - NARG2 Thr255Ile T255I not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2CD4A Ala102Val A102V not reviewed Insufficiently evaluated not reviewed unknown Array 115 9748 0.0117973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - DAPK2 Ser252Ile S252I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 5 Y 2 N - - SLC24A1 Arg995Gln R995Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL16 Arg195Trp R195W not reviewed Insufficiently evaluated not reviewed unknown Array rs28571178 38 10174 0.00373501 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PGPEP1L Met189Thr M189T not reviewed Insufficiently evaluated not reviewed unknown Array rs61743493 294 9748 0.03016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYNM Arg1404Gln R1404Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10104 0.000197941 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001040615 Glu676Gly E676G not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - LRRK1 Ala1682Val A1682V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10434 9.584e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCSK6 Tyr158His Y158H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AXIN1 Arg382His R382H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TMEM8A Val198Met V198M not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - WDR90 Arg1561Cys R1561C not reviewed Insufficiently evaluated not reviewed unknown Array 37 10138 0.00364964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - JMJD8 Arg256Trp R256W not reviewed Insufficiently evaluated not reviewed unknown Array 34 10092 0.003369 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LMF1 Glu527Asp E527D not reviewed Insufficiently evaluated not reviewed unknown Array 43 10210 0.00421156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK056814 Arg317Gln R317Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1H Ala555Val A555V not reviewed Insufficiently evaluated not reviewed unknown Array rs9924241 97 6910 0.0140376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTX4 Gly353Ser G353S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGFALS Ser112Gly S112G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - CASKIN1 Ala283Thr A283T not reviewed Insufficiently evaluated not reviewed unknown Array 131 9982 0.0131236 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - C16ORF79 Pro174Leu P174L not reviewed Insufficiently evaluated not reviewed unknown Array rs9934277 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TIGD7 Arg421Thr R421T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - DNASE1 Pro219Ser P219S not reviewed Insufficiently evaluated not reviewed unknown Array rs34186031 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.429 - - 3 - 1 N - - HSP90B2P Leu371Val L371V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CORO7 Leu257Ser L257S not reviewed Insufficiently evaluated not reviewed unknown Array rs35357594 79 10748 0.0073502 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C16ORF71 Pro143Ser P143S not reviewed Insufficiently evaluated not reviewed unknown Array rs17137230 221 10758 0.0205429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPL Arg520Gln R520Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8063727 93 10738 0.00866083 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM86A Ala95Val A95V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM186 Asp32Asn D32N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLEC16A Ile952Val I952V not reviewed Insufficiently evaluated not reviewed unknown Array rs7195022 21 10568 0.00198713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDXDC1 Arg366Gln R366Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 0 - 0 N - - SMG1 Val2828Leu V2828L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10062 9.9383e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_014711 Ala850Val A850V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 2 - 0 N - - DNAH3 Asp1635His D1635H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - ARHGAP17 Asn593Ser N593S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - KIAA0556 Ser684Tyr S684Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.803 - - 5 Y 1 N - - KIAA0556 Arg1616Trp R1616W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - NM_018690 Glu299Ala E299A not reviewed Insufficiently evaluated not reviewed unknown Array rs73533478 147 9900 0.0148485 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - RUNDC2B Leu257Pro L257P not reviewed Insufficiently evaluated not reviewed unknown Array rs266797 4 92 0.0434783 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ITGAX Phe1010Leu F1010L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.308 - - 0 - 1 N - - SLC6A10P Val35Ala V35A not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CES5A Pro217His P217H not reviewed Insufficiently evaluated not reviewed unknown Array rs9928302 265 10758 0.0246328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - MMP15 Asp538Asn D538N not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -1 - 0 N - - GOT2 Asp154Asn D154N not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - CES2 Glu614Lys E614K not reviewed Insufficiently evaluated not reviewed unknown Array 15 10736 0.00139717 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CES3 Met144Ile M144I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -1 - 2 N - - FBXL8 Val338Met V338M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - C16ORF48 Arg107Gln R107Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ESRP2 Glu290Asp E290D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HAS3 Ala526Gly A526G not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WWP2 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - IL34 Pro152Arg P152R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HYDIN Met80Ile M80I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - ZFP1 Val181Ala V181A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 2 - 1 N - - LRRC50 Pro712Ala P712A not reviewed Insufficiently evaluated not reviewed unknown Array rs4150187 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZC3H18 Pro92Arg P92R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10754 0.00148782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM38A Arg1991Cys R1991C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM38A Val90Met V90M not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APRT Gln121Arg Q121R not reviewed Insufficiently evaluated not reviewed unknown Array rs8191494 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.86 Y - 0 - 3 N - - CBFA2T3 Arg326Pro R326P not reviewed Insufficiently evaluated not reviewed unknown Array rs61757659 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 5 Y 2 N - - SPIRE2 Leu523Val L523V not reviewed Insufficiently evaluated not reviewed unknown Array 59 10664 0.00553263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - MYO1C Leu181Trp L181W not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WDR81 Pro489His P489H not reviewed Insufficiently evaluated not reviewed unknown Array rs11657394 2 74 0.027027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - OR1E2 Val207Met V207M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRPV1 Thr219Ala T219A not reviewed Insufficiently evaluated not reviewed unknown Array 70 10538 0.00664263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GP1BA Pro391Ser P391S not reviewed Insufficiently evaluated not reviewed unknown Array 62 9812 0.00631879 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CAMTA2 Pro367Ser P367S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - ZNF594 Arg692His R692H not reviewed Insufficiently evaluated not reviewed unknown Array 49 10676 0.00458973 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - FBXO39 Gln279Glu Q279E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 1 N - - ALOX15B Ser501Phe S501F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PFAS Gln1269His Q1269H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGEF15 Gln581His Q581H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - -1 - 2 N - - SPDYE4 Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MFSD6L Pro366Ser P366S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 3 - 0 N - - PIK3R5 Phe522Leu F522L not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 0 - 2 N - - MYH2 Thr994Ile T994I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - NM_152350 Tyr36Cys Y36C not reviewed Insufficiently evaluated not reviewed unknown Array rs35517418 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TOP3A Asp742Asn D742N not reviewed Insufficiently evaluated not reviewed unknown Array rs9909732 382 10758 0.0355085 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SLC5A10 Ala587Thr A587T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH3A2 Ala188Val A188V not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 2 - 1 N - - ERAL1 Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.265 - - 1 - 1 N - - MYO18A Gly324Ser G324S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10654 0.00150178 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CRYBA1 Met111Ile M111I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.461 - - -1 - 1 N - - CPD Thr899Ile T899I not reviewed Insufficiently evaluated not reviewed unknown Array rs1860543 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - EVI2B Pro340Arg P340R not reviewed Insufficiently evaluated not reviewed unknown Array rs17884293 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLFN13 Arg489Cys R489C not reviewed Insufficiently evaluated not reviewed unknown Array 244 10758 0.0226808 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - SLFN14 Arg338Gln R338Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - RDM1 Cys170Trp C170W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 7 Y 1 N - - MYO19 Arg576Trp R576W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MRM1 Phe168Leu F168L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10258 0.00272958 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - TADA2A Lys316Gln K316Q not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.147 - - -2 - 0 N - - GPR179 Gly748Ser G748S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 2 - 2 N - - KRTAP2-2 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT33B Arg163His R163H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 1 - 0 N - - KRT15 Ser75Arg S75R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HSPB9 Val87Ile V87I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - CNTD1 Ala264Val A264V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ASB16 Ala118Thr A118T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC25A39 Lys309Arg K309R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GPATCH8 His849Arg H849R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF57 Ser447Leu S447L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SP6 Pro98Leu P98L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - TTLL6 Gln249Pro Q249P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CALCOCO2 Glu90Lys E90K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 0 - 0 N - - PHOSPHO1 His190Tyr H190Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10392 0.000288683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.355 - - -1 - 1 N - - OR4D1 His155Tyr H155Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62636636 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR4D2 Asn5Asp N5D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - BZRAP1 Pro1755Leu P1755L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - TEX14 Leu1420Phe L1420F not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARCH10 Thr560Ala T560A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - AXIN2 Arg357His R357H not reviewed Insufficiently evaluated not reviewed unknown Array rs8081536 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 1 - 3 N - - ABCA8 Leu816Phe L816F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 0 - 0 N - - CDC42EP4 Arg165Gly R165G not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - AFMID Tyr159Cys Y159C not reviewed Insufficiently evaluated not reviewed unknown Array rs61742958 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AL832652 Arg1395Gln R1395Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGSH Gln494Arg Q494R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y - 0 - 1 N - - SLC26A11 Gly352Ser G352S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A11 Ala371Thr A371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSPAN10 Val172Leu V172L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10098 0.000693206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOTUM Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FASN Ile2290Phe I2290F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UTS2R Val121Leu V121L not reviewed Insufficiently evaluated not reviewed unknown Array rs41367349 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - FOXK2 Glu625Ala E625A not reviewed Insufficiently evaluated not reviewed unknown Array rs35659703 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - MYOM1 Arg711His R711H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPB41L3 Arg529Cys R529C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - HRH4 Arg386Trp R386W not reviewed Insufficiently evaluated not reviewed unknown Array 23 10752 0.00213914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - DSC1 Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCART2 Asn287Ser N287S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10736 0.00391207 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - MEP1B Phe95Leu F95L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9668 0.00103434 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - 0 - 2 N - - ZSCAN30 Arg223Trp R223W not reviewed Insufficiently evaluated not reviewed unknown Array rs72959629 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.54 - - 7 Y 1 N - - FHOD3 Val874Ile V874I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10718 0.00261243 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SIGLEC15 Ser178Arg S178R not reviewed Insufficiently evaluated not reviewed unknown Array 5 124 0.0403226 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - MYO5B Thr603Ala T603A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9990 0.0005005 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO5B Asp498Asn D498N not reviewed Insufficiently evaluated not reviewed unknown Array 6 9736 0.000616269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAB27B Pro138Leu P138L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ALPK2 Thr199Ser T199S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10550 0.00236967 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - C19ORF22 Met187Ile M187I not reviewed Insufficiently evaluated not reviewed unknown Array rs7253155 86 10726 0.0080179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C19ORF23 Glu14Gln E14Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIP5K1C Gly460Ser G460S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10740 0.00605214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TJP3 Pro299Arg P299R not reviewed Insufficiently evaluated not reviewed unknown Array rs34246692 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TJP3 Arg751Gly R751G not reviewed Insufficiently evaluated not reviewed unknown Array rs34479626 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLIN4 Ala807Thr A807T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10396 0.000577145 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLIN5 Glu447Lys E447K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10176 0.000589622 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - MUC16 Ser12444Tyr S12444Y not reviewed Insufficiently evaluated not reviewed unknown Array 69 10066 0.00685476 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_001013640 Glu162Asp E162D not reviewed Insufficiently evaluated not reviewed unknown Array rs73506927 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.052 - - -2 - 0 N - - ZNF44 Arg515His R515H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737485 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFX1 Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735284 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR7A10 Ser148Phe S148F not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 5 Y 0 N - - HSH2D Cys166Tyr C166Y not reviewed Insufficiently evaluated not reviewed unknown Array 59 9760 0.00604508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NWD1 Leu1077Val L1077V not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - B3GNT3 Gly230Ser G230S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARRDC2 Pro309Ser P309S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.391 - - 3 - 1 N - - COPE Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SUGP2 Gly129Ala G129A not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - 1 - 1 N - - ZNF737 Glu205Asp E205D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.763 - - -2 - 1 N - - ZNF85 Cys431Trp C431W not reviewed Insufficiently evaluated not reviewed unknown Array 20 10738 0.00186254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF708 Tyr476Cys Y476C not reviewed Insufficiently evaluated not reviewed unknown Array 49 10726 0.00456834 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.895 - - 6 Y 2 N - - ZNF429 Arg635Gly R635G not reviewed Insufficiently evaluated not reviewed unknown Array 40 10200 0.00392157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF100 Asn163Ser N163S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10296 0.00339938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - ZNF208 Gly739Ser G739S not reviewed Insufficiently evaluated not reviewed unknown Array 148 10410 0.0142171 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.548 - - 2 - 1 N - - RHPN2 Val278Met V278M not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - RHPN2 Met275Ile M275I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - LGI4 Arg256Ser R256S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - WDR62 Phe439Val F439V not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - WDR62 Lys771Arg K771R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747277 234 10758 0.0217513 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF571 Gln237Arg Q237R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 0 - 2 N - - ZFP30 Arg140Gly R140G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - ACTN4 Asp890Glu D890E not reviewed Insufficiently evaluated not reviewed unknown Array 47 10756 0.00436965 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.182 Y - -2 - 1 N - - RINL Pro73Ser P73S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 3 - 2 N - - PAK4 Ala109Thr A109T not reviewed Insufficiently evaluated not reviewed unknown Array 16 9110 0.00175631 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 1 - 0 N - - CR601007 Pro149Leu P149L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NUMBL Val467Met V467M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10604 0.00188608 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - CYP2B6 Arg98Trp R98W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CYP2F1 Arg433His R433H not reviewed Insufficiently evaluated not reviewed unknown Array 40 10718 0.00373204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2S1 Pro466Leu P466L not reviewed Insufficiently evaluated not reviewed unknown Array rs34971233 256 10758 0.0237962 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - CEACAM6 Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLAUR Asn281Lys N281K not reviewed Insufficiently evaluated not reviewed unknown Array rs4251921 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 1 - 2 N - - ZNF230 Pro223Leu P223L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - ZFP112 Ile158Thr I158T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733041 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF229 Gln141Glu Q141E not reviewed Insufficiently evaluated not reviewed unknown Array 27 9660 0.00279503 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MARK4 Cys37Tyr C37Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34784381 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SAE1 Lys228Arg K228R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - FAM83E Arg411Gln R411Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - PPP1R15A Gly159Arg G159R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SLC6A16 Arg459His R459H not reviewed Insufficiently evaluated not reviewed unknown Array 72 9876 0.0072904 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - DKKL1 Asp107Asn D107N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - -1 - 1 N - - ALDH16A1 Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array rs3745312 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RCN3 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FUZ Arg35Cys R35C not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CD33 Ala65Pro A65P not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.878 - - 2 - 2 N - - SIGLEC8 Ile409Val I409V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ZNF525 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array rs4570987 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF525 Thr251Ala T251A not reviewed Insufficiently evaluated not reviewed unknown Array rs10415690 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LILRA2 Val416Leu V416L not reviewed Insufficiently evaluated not reviewed unknown Array rs10408046 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - LILRA1 Asp112Glu D112E not reviewed Insufficiently evaluated not reviewed unknown Array rs10417158 278 10756 0.025846 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - LILRA1 Ser298Tyr S298Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LILRA1 Trp307Cys W307C not reviewed Insufficiently evaluated not reviewed unknown Array 259 10754 0.0240841 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 7 Y 1 N - - KIR3DL2 Met373Ile M373I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - -1 - 2 N - - KIR3DL2 Ala378Pro A378P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 2 - 1 N - - PPP6R1 Arg692Cys R692C not reviewed Insufficiently evaluated not reviewed unknown Array rs61735494 63 10614 0.00593556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF628 Thr827Met T827M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF471 Cys292Arg C292R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZIM3 Gln252Arg Q252R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - ZNF419 His495Leu H495L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10752 0.000465029 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK056696 Stop138Ser X138S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF606 Met20Ile M20I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -1 - 0 N - - COLEC11 Thr64Met T64M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10718 0.000559805 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - ALLC Arg362Trp R362W not reviewed Insufficiently evaluated not reviewed unknown Array 101 9662 0.0104533 1 0 1 2 2 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - The activity of uric acid degrading enzymes was lost during vertebrate evolution. Mammals lack functional allantoicase. The human allantoicase gene is transcribed, but the mRNA lacks a continuous open reading frame. Mutations are therefore of no consequence. TAF1B Pro157Thr P157T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 4 Y 0 N - - C2ORF70 Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10214 0.0019581 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF71 Ile783Thr I783T not reviewed Insufficiently evaluated not reviewed unknown Array 20 9746 0.00205212 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF71 Val615Asp V615D not reviewed Insufficiently evaluated not reviewed unknown Array 142 10164 0.0139709 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GALNT14 Val69Ile V69I not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.264 - - -4 - 1 N - - TTC27 Tyr502His Y502H not reviewed Insufficiently evaluated not reviewed unknown Array rs35041288 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -1 - 2 N - - RASGRP3 Glu572Asp E572D not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - MYADML Asp199Asn D199N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - QPCT Ile344Thr I344T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TMEM178 Cys263Tyr C263Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 6 Y 2 N - - TSPYL6 Ala60Val A60V not reviewed Insufficiently evaluated not reviewed unknown Array rs6743719 208 9880 0.0210526 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - AK096196 Pro122Leu P122L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GMCL1 Arg449Gln R449Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61756683 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCYOX1 Ser465Gly S465G not reviewed Insufficiently evaluated not reviewed unknown Array rs34041544 239 10758 0.022216 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - C2ORF3 Ala758Gly A758G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF3 Ile553Val I553V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AB290165 Arg2228Gln R2228Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF7L1 Gln404His Q404H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.344 - - -1 - 1 N - - ELMOD3 Asp188Asn D188N not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 N - - GGCX Thr367Ile T367I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.347 Y - 3 - 2 N - - SFTPB Ala283Thr A283T not reviewed Insufficiently evaluated not reviewed unknown Array rs36210375 62 10746 0.00576959 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SFTPB Gly135Ser G135S not reviewed Insufficiently evaluated not reviewed unknown Array rs35373464 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y - 2 - 1 N - - SFTPB Thr91Met T91M not reviewed Insufficiently evaluated not reviewed unknown Array rs45488101 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.034 Y - 2 - 1 N - - PTCD3 Asp223Gly D223G not reviewed Insufficiently evaluated not reviewed unknown Array rs34118664 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - IMMT Ala294Val A294V not reviewed Insufficiently evaluated not reviewed unknown Array rs35233009 64 9818 0.00651864 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - THNSL2 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - EIF2AK3 Ala422Thr A422T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ITPRIPL1 Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 6 Y 0 N - - ANKRD36B Asp311Asn D311N not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - COX5B Asn85Ser N85S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.555 - - 0 - 1 N - - TMEM131 Lys1522Gln K1522Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - -2 - 1 N - - CHST10 Leu100Val L100V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - NPAS2 Ser616Asn S616N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL1RL2 Gly157Ser G157S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SULT1C2 Arg73Gln R73Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17036058 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAX8 Ala278Val A278V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - DPP10 Gly594Ser G594S not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM37 Gly77Asp G77D not reviewed Insufficiently evaluated not reviewed unknown Array 272 10752 0.0252976 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPN4 Met237Thr M237T not reviewed Insufficiently evaluated not reviewed unknown Array rs61748154 67 10718 0.00625117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - EPB41L5 Met682Val M682V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GYPC Pro20Leu P20L not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MZT2B Ser112Gly S112G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CCDC115 Gln136Glu Q136E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - ARHGEF4 Trp135Cys W135C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRP1B Gly3615Ala G3615A not reviewed Insufficiently evaluated not reviewed unknown Array 211 10726 0.0196718 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 1 - 2 N - - CCDC148 Thr564Pro T564P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.744 - - 4 Y 1 N - - TANC1 Ser303Phe S303F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 5 Y 2 N - - MARCH7 Thr238Met T238M not reviewed Insufficiently evaluated not reviewed unknown Array 317 10756 0.0294719 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MARCH7 Ser247Asn S247N not reviewed Insufficiently evaluated not reviewed unknown Array 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LY75 Pro1247Leu P1247L not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - ITGB6 Gly470Arg G470R not reviewed Insufficiently evaluated not reviewed unknown Array rs55841905 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LASS6 Leu237Val L237V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP2 Ala3602Thr A3602T not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 - Y 1 - 3 N - - LRP2 Val1765Met V1765M not reviewed Insufficiently evaluated not reviewed unknown Array 112 10756 0.0104128 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.059 - Y 0 - 1 N - - KBTBD10 Met481Val M481V not reviewed Insufficiently evaluated not reviewed unknown Array rs34623017 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FASTKD1 Gly54Asp G54D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKAR Arg105His R105H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - ANKAR Thr135Ala T135A not reviewed Insufficiently evaluated not reviewed unknown Array 89 10752 0.00827753 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PMS1 Ser529Asn S529N not reviewed Insufficiently evaluated not reviewed unknown Array rs56064816 13 10704 0.0012145 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMS1 Thr806Ser T806S not reviewed Insufficiently evaluated not reviewed unknown Array rs55859858 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - DNAH7 Gly2822Arg G2822R not reviewed Insufficiently evaluated not reviewed unknown Array rs62624462 74 9544 0.00775356 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 6 Y 0 N - - DNAH7 Asp1260Asn D1260N not reviewed Insufficiently evaluated not reviewed unknown Array 21 9826 0.00213719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.804 - - -1 - 1 N - - NBEAL1 Tyr343Phe Y343F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MREG Arg101Gln R101Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9566 0.000104536 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - C2ORF62 Ser316Thr S316T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10682 0.00168508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM198 Arg263Gln R263Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.389 - - 0 - 1 N - - OBSL1 Ala667Thr A667T not reviewed Insufficiently evaluated not reviewed unknown Array 40 9980 0.00400802 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK10 Thr2150Met T2150M not reviewed Insufficiently evaluated not reviewed unknown Array 53 9764 0.0054281 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2ORF83 Gln39Glu Q39E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPHKAP Arg442Trp R442W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.876 - - 7 Y 2 N - - NMUR1 Val157Met V157M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - PDE6D Asp137Asn D137N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - SH3BP4 Val346Ile V346I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - -4 - 1 N - - TRAF3IP1 Ala571Thr A571T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 1 - 0 N - - GPR35 Leu27Ser L27S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF54 His280Gln H280Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THAP4 Ser132Cys S132C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10750 0.00213953 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 1 N - - NEU4 Val163Met V163M not reviewed Insufficiently evaluated not reviewed unknown Array 4 9656 0.00041425 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF85 Pro60Leu P60L not reviewed Insufficiently evaluated not reviewed unknown Array 179 9894 0.0180918 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DEFB132 Trp41Ser W41S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DEFB132 Leu70Phe L70F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ANGPT4 Arg344Trp R344W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FAM113A Gln22His Q22H not reviewed Insufficiently evaluated not reviewed unknown Array rs2274670 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - VPS16 Ala206Thr A206T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - GNRH2 Ala54Thr A54T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729220 94 10746 0.00874744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASSF2 Met121Ile M121I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - ANKRD5 Met520Thr M520T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - KIF16B Arg780Trp R780W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - RRBP1 Thr278Ala T278A not reviewed Insufficiently evaluated not reviewed unknown Array rs34537635 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRNKL1 Thr2Met T2M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 2 - 1 N - - RALGAPA2 Pro1447Leu P1447L not reviewed Insufficiently evaluated not reviewed unknown Array 57 9602 0.00593626 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 7 Y 1 N - - TTLL9 Gly71Arg G71R not reviewed Insufficiently evaluated not reviewed unknown Array 53 9898 0.00535462 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - BPIL3 Asp193Glu D193E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - PXMP4 Leu49Val L49V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - MYH7B Arg326Cys R326C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10232 0.000879593 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CEP250 Val613Phe V613F not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - CEP250 Glu737Lys E737K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 1 N - - CEP250 Leu2323Val L2323V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - C20ORF152 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C20ORF118 Glu26Lys E26K not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF132 Val246Asp V246D not reviewed Insufficiently evaluated not reviewed unknown Array rs6031732 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C20ORF132 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array rs6017425 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF132 Val13Ile V13I not reviewed Insufficiently evaluated not reviewed unknown Array rs6031841 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACTR5 Glu392Ala E392A not reviewed Insufficiently evaluated not reviewed unknown Array rs35520380 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 3 - 1 N - - MYBL2 Leu10Val L10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - JPH2 Ser306Asn S306N not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - R3HDML Arg160Cys R160C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.842 - - 8 Y 1 N - - WFDC5 Gln85Lys Q85K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - -2 - 1 N - - MATN4 Glu325Lys E325K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SNX21 Arg3Gly R3G not reviewed Insufficiently evaluated not reviewed unknown Array 149 8464 0.017604 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.959 - - 6 Y 2 N - - PLTP Ser124Tyr S124Y not reviewed Insufficiently evaluated not reviewed unknown Array rs11569636 131 10758 0.012177 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - FAM65C Met334Thr M334T not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - BCAS4 Ser160Asn S160N not reviewed Insufficiently evaluated not reviewed unknown Array rs2145692 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.509 - - 0 - 1 N - - ADNP Gly344Asp G344D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 4 Y 0 N - - BCAS1 Thr56Met T56M not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - MC3R Asn105Lys N105K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - ZNF831 Pro960Gln P960Q not reviewed Insufficiently evaluated not reviewed unknown Array 11 10158 0.00108289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 4 Y 2 N - - ZNF831 Thr1588Met T1588M not reviewed Insufficiently evaluated not reviewed unknown Array 158 9798 0.0161257 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - LAMA5 His2841Tyr H2841Y not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - LAMA5 Pro1566Leu P1566L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10734 0.000372647 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RTEL1 Thr1231Met T1231M not reviewed Insufficiently evaluated not reviewed unknown Array 63 10680 0.00589888 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABHD16B Arg160Cys R160C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRTAP19-4 Gly24Ser G24S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP20-2 Gly45Ala G45A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOPEY2 Ala1204Ser A1204S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - IGSF5 Thr11Ile T11I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BACE2 Val478Ile V478I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - C2CD2 Ile67Met I67M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - -1 - 1 N - - UMODL1 Pro648Leu P648L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.627 - - 7 Y 1 N - - POFUT2 Val367Ile V367I not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - MCM3AP Arg1760Gln R1760Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34589822 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - TSSK2 Arg226His R226H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF29 Glu256Lys E256K not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK311676 Cys207Tyr C207Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DGCR6L Arg135Gln R135Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPIL2 Pro457Leu P457L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC040190 Ser37Gly S37G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C22ORF15 Ser97Ala S97A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AX747284 Gly49Ser G49S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO18B Pro137Ser P137S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MYO18B Arg629Trp R629W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10172 0.000393236 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - MYO18B His1791Leu H1791L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - SRRD Leu63Phe L63F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - ASCC2 Glu588Lys E588K not reviewed Insufficiently evaluated not reviewed unknown Array rs34062345 150 10756 0.0139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - SEC14L2 Asp69Asn D69N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - SEC14L2 His137Arg H137R not reviewed Insufficiently evaluated not reviewed unknown Array 188 10758 0.0174754 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC5A1 Val17Ala V17A not reviewed Insufficiently evaluated not reviewed unknown Array rs33951240 95 10758 0.00883064 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - APOL6 Arg132Cys R132C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 8 Y 2 N - - C1QTNF6 Ser9Leu S9L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MICALL1 Ile669Leu I669L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - KDELR3 Stop221Ser X221S not reviewed Insufficiently evaluated not reviewed unknown Array 23 6172 0.00372651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - APOBEC3B Trp228Cys W228C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - FAM83F Arg402Lys R402K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - SLC25A17 His98Arg H98R not reviewed Insufficiently evaluated not reviewed unknown Array rs12159334 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC035403 Pro137Ser P137S not reviewed Insufficiently evaluated not reviewed unknown Array rs2839716 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MEI1 Thr949Ala T949A not reviewed Insufficiently evaluated not reviewed unknown Array rs73163330 99 10068 0.00983313 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MEI1 Ser1027Gly S1027G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10228 0.000782166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2D6 Pro41Leu P41L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMC1B Arg374His R374H not reviewed Insufficiently evaluated not reviewed unknown Array 6 9556 0.000627877 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBLN1 Gly96Ser G96S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10044 0.000199123 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBLN1 Arg642Leu R642L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 6 Y 1 N - - BC036832 Trp2Ser W2S not reviewed Insufficiently evaluated not reviewed unknown Array rs61995687 57 3234 0.0176252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKDREJ Arg797Cys R797C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - ACR Arg200Pro R200P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 5 Y 0 N - - OXNAD1 Cys149Arg C149R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EFHB Arg826Trp R826W not reviewed Insufficiently evaluated not reviewed unknown Array rs11917204 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CNOT10 Thr79Ala T79A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 1 - 1 N - - ZNF620 Lys216Gln K216Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -2 - 0 N - - CCBP2 Leu311Val L311V not reviewed Insufficiently evaluated not reviewed unknown Array rs6779520 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - BX648094 Ile599Met I599M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC71 Pro220Ala P220A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH1 Met1892Leu M1892L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10494 0.00228702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SEMA3G Arg557His R557H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10720 0.00186567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.107 - - 1 - 0 N - - NT5DC2 His100Arg H100R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - SFMBT1 Arg314Leu R314L not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FAM3D Gly138Arg G138R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMF1 Val590Ile V590I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LMOD3 Pro382Ser P382S not reviewed Insufficiently evaluated not reviewed unknown Array 65 9760 0.00665984 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - FRMD4B Arg360Trp R360W not reviewed Insufficiently evaluated not reviewed unknown Array 5 9750 0.00051282 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF717 Gly782Arg G782R not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF717 Asp38Gly D38G not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPHA6 Ile1103Thr I1103T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPHA6 Glu1125Lys E1125K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1524 His314Arg H314R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 1 - 2 N - - TMPRSS7 Gly282Asp G282D not reviewed Insufficiently evaluated not reviewed unknown Array 75 9566 0.00784027 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TMPRSS7 Gly368Ser G368S not reviewed Insufficiently evaluated not reviewed unknown Array 76 9890 0.00768453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA2018 Asn1119Asp N1119D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 N - - ZNF80 Arg178Leu R178L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP31 Ala926Thr A926T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GTF2E1 Val390Ala V390A not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - CD86 Ser170Asn S170N not reviewed Insufficiently evaluated not reviewed unknown Array rs9282642 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.289 - - 0 - 1 N - - PARP15 Leu116Phe L116F not reviewed Insufficiently evaluated not reviewed unknown Array 33 3234 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP15 Asn158Lys N158K not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP15 Asn173Asp N173D not reviewed Insufficiently evaluated not reviewed unknown Array 30 3234 0.00927644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PARP15 His572Arg H572R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYLK Asp1862Glu D1862E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.396 - - -2 - 1 N - - MYLK Gly1639Ser G1639S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - PODXL2 Pro201Arg P201R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL6A6 Arg1219His R1219H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10144 0.00374606 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - DHX36 Glu199Gly E199G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPM1L Leu147Ile L147I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.194 - - -2 - 0 N - - SI Pro173Ala P173A not reviewed Insufficiently evaluated not reviewed unknown Array 172 10754 0.015994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC31 Glu174Lys E174K not reviewed Insufficiently evaluated not reviewed unknown Array 27 9584 0.00281719 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - SKIL Gln227Arg Q227R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - SLC7A14 Gly722Arg G722R not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.764 - - 6 Y 1 N - - ZNF639 Ile140Val I140V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.599 - - -4 - 1 N - - TTC14 Lys447Thr K447T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10726 0.000372925 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FETUB Arg243Gln R243Q not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - AY358227 Gly75Arg G75R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC4 Arg3792His R3792H not reviewed Insufficiently evaluated not reviewed unknown Array 185 2306 0.0802255 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TFRC Phe597Leu F597L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KIAA0226 Pro198Leu P198L not reviewed Insufficiently evaluated not reviewed unknown Array 40 9812 0.00407664 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 7 Y 0 N - - ZNF721 Pro696Thr P696T not reviewed Insufficiently evaluated not reviewed unknown Array 155 10496 0.0147675 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GAK Pro1139Arg P1139R not reviewed Insufficiently evaluated not reviewed unknown Array 49 10754 0.00455644 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.81 - - 5 Y 1 N - - SLC26A1 Asp655Glu D655E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10692 0.000187055 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HAUS3 Leu387Val L387V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D14 Arg436Lys R436K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PSAPL1 Gly470Ser G470S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH3TC1 Ala608Thr A608T not reviewed Insufficiently evaluated not reviewed unknown Array 101 10238 0.00986521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3TC1 Arg1137Trp R1137W not reviewed Insufficiently evaluated not reviewed unknown Array rs61740112 396 10448 0.037902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC035722 Gly5Val G5V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PGM2 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBC1D1 Gly389Ser G389S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731610 453 10758 0.0421082 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 2 - 0 N - - LIMCH1 Ala293Val A293V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC30A9 Arg82Ile R82I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - COMMD8 His25Pro H25P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - UGT2B11 Ala346Val A346V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - UGT2B11 Val153Leu V153L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AMBN Gly300Ser G300S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 2 - 2 N - - MTHFD2L Thr217Met T217M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 2 - 2 N - - BTC Lys63Arg K63R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PPEF2 Asp112Asn D112N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - CCDC158 Glu605Lys E605K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 0 - 2 N - - FRAS1 Val3436Met V3436M not reviewed Insufficiently evaluated not reviewed unknown Array rs34063631 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CDS1 Ser424Asn S424N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.021 Y - 0 - 1 N - - ARHGAP24 Gln359Arg Q359R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - CENPE Glu1679Lys E1679K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.665 - - 0 - 1 N - - EEF1A1P9 Ser109Pro S109P not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP53 Asn554Ser N554S not reviewed Insufficiently evaluated not reviewed unknown Array 76 9776 0.00777414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF3 Phe28Leu F28L not reviewed Insufficiently evaluated not reviewed unknown Array 85 10034 0.0084712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE5A Lys480Gln K480Q not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1109 Thr1423Ile T1423I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9626 0.000103885 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLC10A7 Val148Ile V148I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GUCY1A3 His655Arg H655R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - FAM149A Gly405Ser G405S not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM149A Thr429Ser T429S not reviewed Insufficiently evaluated not reviewed unknown Array rs28550667 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAT1 Leu4348Ile L4348I not reviewed Insufficiently evaluated not reviewed unknown Array 40 9776 0.00409165 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -2 - 2 N - - FAT1 Ile1478Val I1478V not reviewed Insufficiently evaluated not reviewed unknown Array 19 9648 0.00196932 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 Y - -4 - 1 N - - CEP72 Asn599Lys N599K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - NKD2 Gly103Ser G103S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - SLC6A18 Asp393Val D393V not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PAPD7 Gly396Ser G396S not reviewed Insufficiently evaluated not reviewed unknown Array rs28381418 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CMBL Val129Met V129M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.873 - - 0 - 2 N - - MYO10 Val309Ile V309I not reviewed Insufficiently evaluated not reviewed unknown Array rs34846075 10 9470 0.00105597 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BASP1 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 91 10662 0.00853498 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTC23L Lys67Glu K67E not reviewed Insufficiently evaluated not reviewed unknown Array rs6866035 90 9608 0.00936719 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - C5ORF42 Ser349Cys S349C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HEATR7B2 Gln402Arg Q402R not reviewed Insufficiently evaluated not reviewed unknown Array 13 9678 0.00134325 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SNX18 Ala499Val A499V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GFM2 Arg412Cys R412C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RASA1 Asn451Ser N451S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - SPATA9 Lys209Glu K209E not reviewed Insufficiently evaluated not reviewed unknown Array rs34297786 522 10756 0.0485311 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - YTHDC2 Pro12Leu P12L not reviewed Insufficiently evaluated not reviewed unknown Array 69 9834 0.00701647 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_173800 Leu806Ile L806I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DMXL1 Asp1107Tyr D1107Y not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 7 Y 1 N - - SRFBP1 Ser40Leu S40L not reviewed Insufficiently evaluated not reviewed unknown Array 47 9472 0.00496199 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.505 - - 6 Y 1 N - - MEGF10 Gly885Glu G885E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDKL3 Lys352Asn K352N not reviewed Insufficiently evaluated not reviewed unknown Array 29 9468 0.00306295 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - 1 - 0 N - - BRD8 Pro1131Ala P1131A not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.652 - - 2 - 1 N - - BRD8 Leu1106Val L1106V not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - KIF20A Thr158Ser T158S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -2 - 2 N - - ANKHD1-EIF4EBP3 Pro2169Ser P2169S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB18 Phe188Tyr F188Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -4 - 2 N - - CSF1R Val518Met V518M not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - PDGFRB Arg197Lys R197K not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FAT2 Val3304Met V3304M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPARC Asn70Ser N70S not reviewed Insufficiently evaluated not reviewed unknown Array rs13359508 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 0 - 0 N - - GABRP Arg293Cys R293C not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RANBP17 Val93Met V93M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - RANBP17 Asp1085Val D1085V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 8 Y 2 N - - SH3PXD2B Thr713Met T713M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - TSPAN17 Asn162Ser N162S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MXD3 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array 174 10756 0.016177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - RMND5B Arg244Trp R244W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - GRM6 Val837Ile V837I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731185 116 10756 0.0107847 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - -4 - 1 N - - SERPINB6 Val316Met V316M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SYCP2L Pro483Leu P483L not reviewed Insufficiently evaluated not reviewed unknown Array 63 9606 0.0065584 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - BC032356 Ile39Thr I39T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK127555 Gly56Ser G56S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK126168 Ile39Met I39M not reviewed Insufficiently evaluated not reviewed unknown Array rs73375049 3 128 0.0234375 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BTN1A1 Arg92Cys R92C not reviewed Insufficiently evaluated not reviewed unknown Array rs61732157 22 10724 0.00205147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HMGN4 Ala33Val A33V not reviewed Insufficiently evaluated not reviewed unknown Array rs34905463 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.678 - - 2 - 1 N - - HIST1H2AK Ala54Val A54V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10754 0.00185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HLA-A Arg41Ser R41S not reviewed Insufficiently evaluated not reviewed unknown Array rs1059423 670 10714 0.062535 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.447 - - 3 - 0 N - - MICB Asp52Ala D52A not reviewed Insufficiently evaluated not reviewed unknown Array 19 6752 0.00281398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LTB Leu87Phe L87F not reviewed Insufficiently evaluated not reviewed unknown Array rs4647187 36 7522 0.00478596 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 0 - 1 N - - BAG6 Ser619Pro S619P not reviewed Insufficiently evaluated not reviewed unknown Array rs1052486 24 0 31 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF48 Pro44Leu P44L not reviewed Insufficiently evaluated not reviewed unknown Array 73 10756 0.00678691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNXB Thr2324Lys T2324K not reviewed Insufficiently evaluated not reviewed unknown Array rs17207909 36 6984 0.00515464 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - UHRF1BP1 Gly968Asp G968D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10236 0.000390777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 4 Y 1 N - - C6ORF222 Asp627Asn D627N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DNAH8 Arg2926Cys R2926C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KIF6 Ala797Thr A797T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 1 - 1 N - - KIAA0240 Glu818Gly E818G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - PTCRA Cys252Arg C252R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10746 0.00437372 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.969 - - 8 Y 2 N - - PLA2G7 Asn426Ser N426S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DEFB112 Thr90Met T90M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TFAP2D Tyr102His Y102H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.109 - - -1 - 0 N - - EFHC1 Arg296His R296H not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.772 Y - 1 - 2 N - - ZNF292 Val1648Ile V1648I not reviewed Insufficiently evaluated not reviewed unknown Array 53 9866 0.00537198 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPRC6A Thr535Arg T535R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - ROS1 Lys2328Arg K2328R not reviewed Insufficiently evaluated not reviewed unknown Array rs35932630 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - VNN3 Asp53Ala D53A not reviewed Insufficiently evaluated not reviewed unknown Array 60 4586 0.0130833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1244 Ala219Val A219V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 2 - 1 N - - NHSL1 Pro201Ser P201S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ECT2L Ala594Thr A594T not reviewed Insufficiently evaluated not reviewed unknown Array rs11968285 62 10014 0.00619133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - REPS1 Pro544Ser P544S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UTRN Arg1967Trp R1967W not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZC3H12D Ala70Val A70V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 2 - 0 N - - TULP4 Gly214Ser G214S not reviewed Insufficiently evaluated not reviewed unknown Array rs35262826 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TULP4 Arg1118Gln R1118Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF118 Tyr458His Y458H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR27 Ala705Thr A705T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10016 0.00269569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CYP2W1 Arg328His R328H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10578 0.002647 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.909 - - 1 - 2 N - - SCIN Asp686Glu D686E not reviewed Insufficiently evaluated not reviewed unknown Array rs34535978 57 9854 0.00578445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - -2 - 2 N - - PRPS1L1 Lys78Gln K78Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - -2 - 2 N - - ABCB5 Gly153Ser G153S not reviewed Insufficiently evaluated not reviewed unknown Array 14 7820 0.00179028 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCB5 Thr429Met T429M not reviewed Insufficiently evaluated not reviewed unknown Array 12 7820 0.00153453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCB5 Ala1047Pro A1047P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001126493 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BBS9 Thr12Ala T12A not reviewed Insufficiently evaluated not reviewed unknown Array rs4498440 146 10758 0.0135713 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.117 - Y 1 - 1 N - - FAM183B Thr79Ala T79A not reviewed Insufficiently evaluated not reviewed unknown Array rs61745354 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR597893 Gly159Ala G159A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO1G Val322Met V322M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - NACAD Ala963Val A963V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNS3 Ile1195Val I1195V not reviewed Insufficiently evaluated not reviewed unknown Array 6 9798 0.000612369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - TNS3 Ala664Val A664V not reviewed Insufficiently evaluated not reviewed unknown Array 77 10302 0.00747428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA13 Leu370Gln L370Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59913576 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCA13 Thr2784Ser T2784S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC14C Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEPT14 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array 36 9450 0.00380952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.577 - - 6 Y 1 N - - NM_001039487 Gln187Arg Q187R not reviewed Insufficiently evaluated not reviewed unknown Array 137 10756 0.0127371 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - MLXIPL Asp244Glu D244E not reviewed Insufficiently evaluated not reviewed unknown Array rs34922362 201 10746 0.0187046 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.766 - - -2 - 1 N - - RSBN1L Pro269Leu P269L not reviewed Insufficiently evaluated not reviewed unknown Array 11 9566 0.00114991 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF804B Asn409Asp N409D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF804B His748Tyr H748Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GTPBP10 Pro157Gln P157Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TECPR1 Asn473Ser N473S not reviewed Insufficiently evaluated not reviewed unknown Array rs57704545 108 9876 0.0109356 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRRAP Glu409Asp E409D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP3A4 Met395Val M395V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.189 - - 0 - 0 N - - MUC17 Thr1182Pro T1182P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 4 Y 2 N - - MYL10 Met129Leu M129L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - -3 - 2 N - - DPY19L2P2 Ala120Val A120V not reviewed Insufficiently evaluated not reviewed unknown Array rs10249842 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RELN Ala1064Gly A1064G not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RELN Thr978Ala T978A not reviewed Insufficiently evaluated not reviewed unknown Array rs3025962 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.792 - - 1 - 1 N - - PNPLA8 Arg217Pro R217P not reviewed Insufficiently evaluated not reviewed unknown Array rs35597447 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.102 - - 5 Y 0 N - - PPP1R3A Ile1087Val I1087V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10754 0.00743909 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPP1R3A Asn1015Ser N1015S not reviewed Insufficiently evaluated not reviewed unknown Array 80 10754 0.00743909 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R3A Ile572Val I572V not reviewed Insufficiently evaluated not reviewed unknown Array rs35398707 80 10756 0.00743771 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WNT16 Glu315Gln E315Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RNF133 Leu68Ser L68S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.641 - - 6 Y 1 N - - NR_002144 Met233Ile M233I not reviewed Insufficiently evaluated not reviewed unknown Array rs61740496 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR_002144 Ala357Glu A357E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF45 Gln183Leu Q183L not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CPA2 Ile170Val I170V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731658 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TBXAS1 Asp208Glu D208E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZYX Lys322Asn K322N not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - OR2A2 Arg89Gly R89G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.072 - - 6 Y 0 N - - ZNF862 His884Arg H884R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 1 - 2 N - - ABP1 Asp733Glu D733E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10140 0.000295857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB8 Glu338Lys E338K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL3 Met689Ile M689I not reviewed Insufficiently evaluated not reviewed unknown Array 4 8 0.5 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MLL3 Leu687Phe L687F not reviewed Insufficiently evaluated not reviewed unknown Array 4 20 0.2 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - AX747124 Tyr35Cys Y35C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANGPT2 Thr260Ser T260S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - AGPAT5 Cys131Gly C131G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 7 Y 2 N - - RP1L1 Trp2306Arg W2306R not reviewed Insufficiently evaluated not reviewed unknown Array 32 9888 0.00323624 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RP1L1 Ala624Thr A624T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10220 0.00313112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SOX7 Arg124Pro R124P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - SH2D4A Asp401His D401H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 3 - 2 N - - CSGALNACT1 Leu260Val L260V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - REEP4 Pro211Ala P211A not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PIWIL2 Thr546Ile T546I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEX15 Ala582Thr A582T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAB11FIP1 Pro239Leu P239L not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - TACC1 Glu255Gly E255G not reviewed Insufficiently evaluated not reviewed unknown Array rs10107016 49 10756 0.0045556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - TACC1 Glu710Ala E710A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - ADAM18 Ile123Leu I123L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10724 0.00251772 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.269 - - -2 - 1 N - - PXDNL Asp519Asn D519N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -1 - 2 N - - OPRK1 Asp374Asn D374N not reviewed Insufficiently evaluated not reviewed unknown Array rs9282808 227 10758 0.0211006 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - C8ORF45 Arg331His R331H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SULF1 Ile464Met I464M not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - ZFHX4 Val3350Ile V3350I not reviewed Insufficiently evaluated not reviewed unknown Array 2 9700 0.000206185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.31 - - -4 - 1 N - - LRRCC1 Arg434Lys R434K not reviewed Insufficiently evaluated not reviewed unknown Array 41 9672 0.00423904 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - ATP6V0D2 Val203Ile V203I not reviewed Insufficiently evaluated not reviewed unknown Array 58 10746 0.00539736 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PKHD1L1 Asn73Thr N73T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - MTBP Pro786Ser P786S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ST3GAL1 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM135B Lys876Glu K876E not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - TRAPPC9 Thr113Met T113M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10748 0.000465202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DENND3 Ala416Val A416V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 2 - 1 N - - DENND3 Ala424Thr A424T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - NM_207414 Ala171Thr A171T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10004 9.996e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_207414 Gln46Lys Q46K not reviewed Insufficiently evaluated not reviewed unknown Array 93 10462 0.00888931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C8ORF73 Glu147Lys E147K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEC Pro2764Arg P2764R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10126 0.00256765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEC Ala2390Thr A2390T not reviewed Insufficiently evaluated not reviewed unknown Array rs62641756 30 10716 0.00279955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala892Thr A892T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10394 0.000865884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PARP10 Arg548His R548H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 1 - 0 N - - OPLAH Ala879Val A879V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743013 489 10264 0.0476422 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXOSC4 Ala216Gly A216G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - TONSL Phe1015Leu F1015L not reviewed Insufficiently evaluated not reviewed unknown Array rs35351970 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF252 Tyr134Cys Y134C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK8 Val265Gly V265G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CNTLN Ile643Val I643V not reviewed Insufficiently evaluated not reviewed unknown Array 162 9344 0.0173373 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PIGO Arg811Gln R811Q not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - TRPM6 Ser90Cys S90C not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 3 - 3 N - - NAA35 Pro653Ser P653S not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SEMA4D Lys777Gln K777Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - C9ORF129 Leu84Ser L84S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10740 0.000279329 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TSTD2 Glu405Gly E405G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - INVS Asp771Asn D771N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.894 Y - -1 - 3 N - - OR13C2 Phe177Ser F177S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 5 Y 2 N - - PALM2-AKAP2 Val300Met V300M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF152 Arg33Ser R33S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SVEP1 Arg496His R496H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10234 0.00332226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.534 - - 1 - 1 N - - COL27A1 Gln1179Glu Q1179E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5 Ser1416Leu S1416L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CEP110 Val1831Ile V1831I not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - AK1 Ala162Thr A162T not reviewed Insufficiently evaluated not reviewed unknown Array rs35902264 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUP188 Ala1335Gly A1335G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - PRRC2B Thr936Ser T936S not reviewed Insufficiently evaluated not reviewed unknown Array rs10736851 29 0 43 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRRC2B Pro981Leu P981L not reviewed Insufficiently evaluated not reviewed unknown Array rs10751478 28 0 42 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRRC2B Met1044Thr M1044T not reviewed Insufficiently evaluated not reviewed unknown Array rs10793873 31 0 61 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRRC2B Ala1276Val A1276V not reviewed Insufficiently evaluated not reviewed unknown Array rs11243403 22 0 28 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0649 Val283Ile V283I not reviewed Insufficiently evaluated not reviewed unknown Array rs35490599 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - KIAA0649 Arg346Lys R346K not reviewed Insufficiently evaluated not reviewed unknown Array rs914644 326 10758 0.030303 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.066 - - -3 - 0 N - - OBP2A Asp156Asn D156N not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - KIAA1984 Val430Leu V430L not reviewed Insufficiently evaluated not reviewed unknown Array 146 10442 0.013982 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - FAM166A Asp133Asn D133N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXD3 Met490Val M490V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10078 0.000595356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF37 Ala157Thr A157T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSF2RA Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array 183 10750 0.0170233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - STS Arg386Ser R386S not reviewed Insufficiently evaluated not reviewed unknown Array 7 8760 0.000799086 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 3 - 1 N - - CXORF27 Ala98Val A98V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737321 94 8467 0.0111019 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF41 Glu249Ala E249A not reviewed Insufficiently evaluated not reviewed unknown Array rs34445771 45 8761 0.0051364 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SHROOM4 Gly791Asp G791D not reviewed Insufficiently evaluated not reviewed unknown Array 2 8761 0.000228284 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 4 Y 0 N - - NR_003933 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITIH5L Gly1170Ala G1170A not reviewed Insufficiently evaluated not reviewed unknown Array rs35355718 251 8761 0.0286497 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.301 - - 1 - 1 N - - ITIH5L Arg561Cys R561C not reviewed Insufficiently evaluated not reviewed unknown Array rs34004499 23 8754 0.00262737 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - ITIH5L Thr396Met T396M not reviewed Insufficiently evaluated not reviewed unknown Array rs61739699 139 8761 0.0158658 1 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - IL13RA2 Gly9Arg G9R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FRMD7 His520Asp H520D not reviewed Insufficiently evaluated not reviewed unknown Array rs61742429 59 8761 0.00673439 2 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - DEM1 Glu32Shift E32Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs58904273 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Arg2181His R2181H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FLG Arg711His R711H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - GBA Gln182Shift Q182Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - RYR2 Ile403Val I403V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - RYR2 Ile3508Thr I3508T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CDH23 Arg2912His R2912H not reviewed Insufficiently evaluated not reviewed unknown Array rs58875306 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - H19 Gly88Arg G88R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - OR51V1 Phe163Shift F163Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYBPC3 Gly278Glu G278E not reviewed Insufficiently evaluated not reviewed unknown Array 48 9876 0.00486027 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - OR5D16 Tyr195Shift Y195Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF66 His424Shift H424Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEP290 Arg1752Gln R1752Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 9454 0.00232706 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 N - - GTF3A Gly365Shift G365Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs60932480 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MTUS2 Thr367Shift T367Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DJ031140 Thr29Shift T29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AHNAK2 Pro2126Shift P2126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 90 0.0222222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC066551 Ser64Shift S64Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GGA2 Gly329Shift G329Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYO15A Pro1685Leu P1685L not reviewed Insufficiently evaluated not reviewed unknown Array rs58625281 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - C17ORF51 Ser35Shift S35Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNTNAP1 Glu216Shift E216Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HOXB13 Stop285Shift X285Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4D1 Pro58Shift P58Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4D1 Stop311Shift X311Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN4A Asn1503Ser N1503S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.898 Y Y 0 - 4 N - - AK125672 Gln189Shift Q189Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs61658760 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF681 Tyr172Shift Y172Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GGN His643Shift H643Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRFN1 Gly711Shift G711Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRFN1 Asp709Shift D709Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEACAM16 Leu55Shift L55Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CD207 Phe12Shift F12Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Lys619Arg K619R not reviewed Insufficiently evaluated not reviewed unknown Array 40 9822 0.00407249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - SCN9A Trp719Cys W719C not reviewed Insufficiently evaluated not reviewed unknown Array 39 9468 0.00411914 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - DNAH7 Ile759Shift I759Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C2ORF52 Lys77Shift K77Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EDN3 Gly4Ala G4A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y 1 - 4 N - - KRTAP10-11 Leu285Shift L285Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL18A1 Pro1176ProGlyProPro P1176PGPP not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PI4KAP2 Gln263Stop Q263X not reviewed Insufficiently evaluated not reviewed unknown Array rs1892850 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SFMBT1 Gln472Shift Q472Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR5H14 Met118Shift M118Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MORF4 Asp205Shift D205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDHB18 Ala10Shift A10Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs33914546 5 128 0.0390625 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNOT6 Leu251Shift L251Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GCM2 Thr387ThrThr T387TT not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - OR2H2 Cys177Shift C177Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC087859 Gly102Shift G102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001039487 Ala269Shift A269Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3035400 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EEF1G Trp279Stop W279X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AKR1B10 Gln114Stop Q114X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RP1L1 Gly134Shift G134Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 102 0.0196078 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGL1 Leu172Stop L172X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ASPH Asp173Shift D173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RECQL4 AlaGlyArg805Del AGR805Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OR1L6 Phe65Shift F65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GATA1 Pro400Arg P400R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.793 Y Y 5 Y 3 N - - PHKA1 Gly642Cys G642C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.137 Y - 7 Y 1 N - - ATP7A Ile189Val I189V not reviewed Insufficiently evaluated not reviewed unknown Array rs2228447 76 8756 0.00867976 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ATP7A Ile506Val I506V not reviewed Insufficiently evaluated not reviewed unknown Array 76 8756 0.00867976 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - MAGEC3 Tyr152Shift Y152Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72410991 6 89 0.0674157 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC073150 Glu99Lys E99K not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATAD3C Ala91Val A91V not reviewed Insufficiently evaluated not reviewed unknown Array 39 3232 0.0120668 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.592 - - 2 - 1 N - - MEGF6 Pro45Leu P45L not reviewed Insufficiently evaluated not reviewed unknown Array rs61737345 228 10652 0.0214044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - FHAD1 Leu492Val L492V not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - FHAD1 Asp1288Asn D1288N not reviewed Insufficiently evaluated not reviewed unknown Array 49 3234 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - -1 - 2 N - - UBXN11 ProSerProGlyProGlyProGlyPro501Ser PSPGPGPGP501S not reviewed Insufficiently evaluated not reviewed unknown Array rs17838088 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DCDC2B Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array 29 10532 0.00275351 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.802 - - 7 Y 1 N - - BMP8A Arg270Lys R270K not reviewed Insufficiently evaluated not reviewed unknown Array 976 7542 0.129409 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - BMP8A Ser276Thr S276T not reviewed Insufficiently evaluated not reviewed unknown Array 122 6896 0.0176914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TM2D1 Trp5Arg W5R not reviewed Insufficiently evaluated not reviewed unknown Array 49 9740 0.0050308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - KIAA1107 Val1028Ile V1028I not reviewed Insufficiently evaluated not reviewed unknown Array rs566576 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPSM2 Ser573Leu S573L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DRAM2 Ile108Val I108V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HRNR Ser1515Gly S1515G not reviewed Insufficiently evaluated not reviewed unknown Array 4 4 1 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LCE1C Cys24Ser C24S not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM189B Phe97Ser F97S not reviewed Insufficiently evaluated not reviewed unknown Array rs58560709 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POU5F1P4 Leu185His L185H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CFHR4 Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CFHR4 Asn116Lys N116K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CFHR4 Asp258Glu D258E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CFHR4 Ile347Val I347V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10316 0.0036836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CFHR4 Glu349Lys E349K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10332 0.00367789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CFHR4 Arg412Trp R412W not reviewed Insufficiently evaluated not reviewed unknown Array 40 9838 0.00406587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CFHR4 Leu561Ile L561I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10754 0.00306862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CR1L Gly360Asp G360D not reviewed Insufficiently evaluated not reviewed unknown Array 24 9702 0.00247372 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - CR620847 Asp167Asn D167N not reviewed Insufficiently evaluated not reviewed unknown Array rs28391086 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OBSCN Thr6971Asn T6971N not reviewed Insufficiently evaluated not reviewed unknown Array 106 9730 0.0108941 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - ZNF695 Lys381Asn K381N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10616 0.000376789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2T33 Met69Val M69V not reviewed Insufficiently evaluated not reviewed unknown Array rs72635980 1 70 0.0142857 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - C10ORF114 Pro52Ser P52S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APBB1IP Ala622Val A622V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10216 0.00371966 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - YME1L1 Ile146Thr I146T not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LYZL2 Ile56Thr I56T not reviewed Insufficiently evaluated not reviewed unknown Array rs9943351 155 10708 0.0144752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASCC1 Tyr304Cys Y304C not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBC1D12 Ala300Val A300V not reviewed Insufficiently evaluated not reviewed unknown Array 11 7898 0.00139276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - DMBT1 Ser1688Leu S1688L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10008 0.00139888 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 6 Y 0 N - - OR51A4 Arg311Trp R311W not reviewed Insufficiently evaluated not reviewed unknown Array rs2436782 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - OR51A4 Asn97Ser N97S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR51A4 Ile94Thr I94T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OR51A4 Glu59Gly E59G not reviewed Insufficiently evaluated not reviewed unknown Array rs1817206 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.829 - - 6 Y 1 N - - DCHS1 Arg2891Gln R2891Q not reviewed Insufficiently evaluated not reviewed unknown Array rs60443131 1 10662 9.3791e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.869 - - 0 - 2 N - - ST5 Arg782Ser R782S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - BC136797 Ala233Glu A233E not reviewed Insufficiently evaluated not reviewed unknown Array rs11024269 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC136797 Ser414Leu S414L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CTNND1 Thr113Pro T113P not reviewed Insufficiently evaluated not reviewed unknown Array 5 9866 0.00050679 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 4 Y 2 N - - BC132896 Ile152Thr I152T not reviewed Insufficiently evaluated not reviewed unknown Array rs57975282 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP3K11 Ala644Val A644V not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - FOLR3 Glu107Asp E107D not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GRM5 Gly946Ser G946S not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UBTFL2 Cys96Arg C96R not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1731 Leu358Ile L358I not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HEPHL1 Arg432Trp R432W not reviewed Insufficiently evaluated not reviewed unknown Array 21 9588 0.00219024 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TREH Tyr449His Y449H not reviewed Insufficiently evaluated not reviewed unknown Array rs11827611 107 9838 0.0108762 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARHGAP32 Asp12Gly D12G not reviewed Insufficiently evaluated not reviewed unknown Array 6 7820 0.000767263 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB2 Ala214Val A214V not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_004719 Phe657Tyr F657Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7315731 4139 10756 0.384808 20 0 29 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HDAC7 Ser579Leu S579L not reviewed Insufficiently evaluated not reviewed unknown Array rs73291234 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.72 - - 6 Y 1 N - - DCTN2 Pro134Ala P134A not reviewed Insufficiently evaluated not reviewed unknown Array 59 10320 0.00571705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DDX54 Ala289Val A289V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 2 - 0 N - - ZCCHC8 Val510Ala V510A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10654 0.00065703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 2 - 0 N - - GALNT9 Thr56Lys T56K not reviewed Insufficiently evaluated not reviewed unknown Array 7 3222 0.00217256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZMYM2 Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - SPATA13 Ser730Gly S730G not reviewed Insufficiently evaluated not reviewed unknown Array rs58889617 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARP4 Met936Ala M936A not reviewed Insufficiently evaluated not reviewed unknown Array rs4770684 14 128 0.109375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NBEA Ser1499Gly S1499G not reviewed Insufficiently evaluated not reviewed unknown Array rs41292197 248 9580 0.0258873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK057244 His453Arg H453R not reviewed Insufficiently evaluated not reviewed unknown Array rs17066902 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.046 - - 1 - 0 N - - AK057244 Thr427Ile T427I not reviewed Insufficiently evaluated not reviewed unknown Array rs749071 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.336 - - 3 - 1 N - - AK057244 Gly87Glu G87E not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DQ866763 His122Pro H122P not reviewed Insufficiently evaluated not reviewed unknown Array 2 94 0.0212766 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - L06879 Arg100Trp R100W not reviewed Insufficiently evaluated not reviewed unknown Array rs61997168 176 10376 0.0169622 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS4L1 SerLysThrAla188Del SKTA188Del not reviewed Insufficiently evaluated not reviewed unknown Array rs58781028 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXOC5 Tyr311Phe Y311F not reviewed Insufficiently evaluated not reviewed unknown Array rs35664900 106 9336 0.0113539 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.756 - - -4 - 1 N - - SLC35F4 Gln116Arg Q116R not reviewed Insufficiently evaluated not reviewed unknown Array 28 9892 0.00283057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR594591 Arg200His R200H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC88C Arg1984Gln R1984Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745465 44 9650 0.00455958 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.156 - - 0 - 0 N - - AF469199 His90Tyr H90Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR616805 His17Tyr H17Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C14ORF73 Val297Met V297M not reviewed Insufficiently evaluated not reviewed unknown Array rs9324055 216 9492 0.022756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0284 Ser1378Thr S1378T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AHNAK2 Lys1492Arg K1492R not reviewed Insufficiently evaluated not reviewed unknown Array 1754 9656 0.181649 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - AHNAK2 Thr1488Ala T1488A not reviewed Insufficiently evaluated not reviewed unknown Array 1461 9354 0.15619 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - X58398 Gly73Arg G73R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - X58398 Arg57His R57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001080841 Met218Val M218V not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM189A1 Cys103Ser C103S not reviewed Insufficiently evaluated not reviewed unknown Array rs58790263 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - RYR3 Asp1678Gly D1678G not reviewed Insufficiently evaluated not reviewed unknown Array rs59021219 348 10006 0.0347791 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MGA Arg366His R366H not reviewed Insufficiently evaluated not reviewed unknown Array 25 9620 0.00259875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD9 Val1470Ile V1470I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STARD9 Ser1942Arg S1942R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UNC13C Asn2093Ser N2093S not reviewed Insufficiently evaluated not reviewed unknown Array 55 9658 0.00569476 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIGB Lys551Thr K551T not reviewed Insufficiently evaluated not reviewed unknown Array rs2444042 202 9504 0.0212542 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - GOLGA6A Ser86Asn S86N not reviewed Insufficiently evaluated not reviewed unknown Array rs3869330 1 36 0.0277778 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPRL3 Asp426Glu D426E not reviewed Insufficiently evaluated not reviewed unknown Array 138 10626 0.012987 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RGS11 Lys294Asn K294N not reviewed Insufficiently evaluated not reviewed unknown Array rs9806961 41 10620 0.00386064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 1 - 2 N - - PDIA2 His59Arg H59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - AK128777 Ser176Leu S176L not reviewed Insufficiently evaluated not reviewed unknown Array rs73485467 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LMF1 Leu128Phe L128F not reviewed Insufficiently evaluated not reviewed unknown Array 26 10358 0.00251014 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC9A3R2 Ser261Thr S261T not reviewed Insufficiently evaluated not reviewed unknown Array 76 9888 0.00768608 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLYWCH1 Arg247Gln R247Q not reviewed Insufficiently evaluated not reviewed unknown Array 72 10028 0.0071799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FLYWCH1 Gly572Ser G572S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747748 68 9690 0.00701754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 2 - 1 N - - NLRC3 Glu293Asp E293D not reviewed Insufficiently evaluated not reviewed unknown Array 95 10218 0.00929732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - -2 - 0 N - - NLRC3 Ile286Met I286M not reviewed Insufficiently evaluated not reviewed unknown Array 89 10094 0.00881712 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - -1 - 2 N - - SLX4 Ser1716Thr S1716T not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - SLX4 Gly633Asp G633D not reviewed Insufficiently evaluated not reviewed unknown Array rs1056085 79 9968 0.00792536 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - SLX4 Ser601Leu S601L not reviewed Insufficiently evaluated not reviewed unknown Array rs59706816 30 10534 0.00284792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 6 Y 0 N - - SEC14L5 Pro620Thr P620T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10150 0.00226601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TOX3 Ala184Thr A184T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10486 0.00495899 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 1 - 1 N - - NM_001101347 Lys78Thr K78T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF74 Asp73Asn D73N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9948 0.000100522 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF469 Gly1983Asp G1983D not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.6 - - 4 Y 1 N - - ZNF469 Ala3542Thr A3542T not reviewed Insufficiently evaluated not reviewed unknown Array rs57052487 22 3228 0.00681537 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - ZNF469 Val3591Met V3591M not reviewed Insufficiently evaluated not reviewed unknown Array 3 3222 0.000931098 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM38A Ser954Leu S954L not reviewed Insufficiently evaluated not reviewed unknown Array rs34873950 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ALOX15 Gly422Arg G422R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - CCDC144NL Asp70Asn D70N not reviewed Insufficiently evaluated not reviewed unknown Array 73 10754 0.00678817 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -1 - 2 N - - C17ORF51 SerCysThrSer96Del SCTS96Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO18A Phe844Ser F844S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10010 9.99e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 5 Y 0 N - - LRRC37B Lys494Arg K494R not reviewed Insufficiently evaluated not reviewed unknown Array 24 10740 0.00223464 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MMP28 Gly152Asp G152D not reviewed Insufficiently evaluated not reviewed unknown Array 110 10742 0.0102402 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ITGA2B Leu872Met L872M not reviewed Insufficiently evaluated not reviewed unknown Array 76 10696 0.00710546 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - ITGB3 Val14Met V14M not reviewed Insufficiently evaluated not reviewed unknown Array 62 8358 0.00741804 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - TAC4 Stop108Glu X108E not reviewed Insufficiently evaluated not reviewed unknown Array rs59864001 3 128 0.0234375 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYCBPAP Val818Met V818M not reviewed Insufficiently evaluated not reviewed unknown Array rs61014050 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - CD300E Leu4Phe L4F not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC036810 Leu45Pro L45P not reviewed Insufficiently evaluated not reviewed unknown Array rs8068282 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC036810 Arg331Trp R331W not reviewed Insufficiently evaluated not reviewed unknown Array rs61742094 2 112 0.0178571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AATK Thr84Ala T84A not reviewed Insufficiently evaluated not reviewed unknown Array rs57119401 34 10102 0.00336567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - 1 - 0 N - - CCDC57 Gln321Arg Q321R not reviewed Insufficiently evaluated not reviewed unknown Array rs7406116 449 10694 0.0419862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM200C Gln23His Q23H not reviewed Insufficiently evaluated not reviewed unknown Array rs73384004 23 10330 0.00222652 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRAPPC8 Arg1201Gln R1201Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCCHC2 Pro959Leu P959L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10518 0.0030424 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - PHLPP1 Phe260Cys F260C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - POLRMT His930Tyr H930Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - PLK5P Glu131Lys E131K not reviewed Insufficiently evaluated not reviewed unknown Array rs10408052 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFX2 Glu560Lys E560K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Asp11390Asn D11390N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSH2D Val297Gly V297G not reviewed Insufficiently evaluated not reviewed unknown Array 110 10140 0.0108481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKLE1 Val222Ile V222I not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GTPBP3 Gln316Arg Q316R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10712 0.00308066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF98 Gly524Ser G524S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10638 0.000282007 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF98 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10006 0.00209874 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIMM50 Ser112Trp S112W not reviewed Insufficiently evaluated not reviewed unknown Array rs35135520 119 10306 0.0115467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DEDD2 Ile25Val I25V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744824 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IRGQ Phe431Leu F431L not reviewed Insufficiently evaluated not reviewed unknown Array 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEACAM20 Thr482Ile T482I not reviewed Insufficiently evaluated not reviewed unknown Array rs35216557 121 9954 0.0121559 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RSPH6A Val316Ile V316I not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.037 - - -4 - 0 N - - CCDC61 Pro61Leu P61L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10124 0.00019755 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRLF1 Met1485Val M1485V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10152 0.00118203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEAD2 Pro209Ser P209S not reviewed Insufficiently evaluated not reviewed unknown Array 84 10296 0.00815851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 3 - 0 N - - ZNF578 Asn185Asp N185D not reviewed Insufficiently evaluated not reviewed unknown Array 78 10754 0.00725312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM179A Arg358Trp R358W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - FAM161A Glu543Lys E543K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - CEP68 SerSer205ArgGly SS205RG not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF78 Ser535Gly S535G not reviewed Insufficiently evaluated not reviewed unknown Array rs59708395 158 10014 0.0157779 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RETSAT Arg553Lys R553K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - -3 - 1 N - - RETSAT Ser551Del S551Del not reviewed Insufficiently evaluated not reviewed unknown Array rs10558033 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK125994 Ser66Gly S66G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBLN7 Glu153Del E153Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RGPD5 Val1227Ala V1227A not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OSGEPL1 Leu306Val L306V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9730 0.000102774 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - AB058746 Val1145Leu V1145L not reviewed Insufficiently evaluated not reviewed unknown Array rs61749490 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPBAR1 Glu251Lys E251K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBA4B Tyr42Cys Y42C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - PTPRN Ala343Val A343V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - USP40 Asp1106Asn D1106N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASB18 Thr41Met T41M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.315 - - 2 - 1 N - - AF451986 Thr5Ile T5I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRN4 Ala703Val A703V not reviewed Insufficiently evaluated not reviewed unknown Array 54 10730 0.00503262 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASXL1 Leu1324Phe L1324F not reviewed Insufficiently evaluated not reviewed unknown Array rs6057581 328 10758 0.0304889 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS15 Tyr828Cys Y828C not reviewed Insufficiently evaluated not reviewed unknown Array rs8130110 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LCA5L PheGly16SerSer FG16SS not reviewed Insufficiently evaluated not reviewed unknown Array rs2837029 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SH3BGR Gly184Cys G184C not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SH3BGR Val188Ser V188S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SH3BGR Glu222Lys E222K not reviewed Insufficiently evaluated not reviewed unknown Array rs62639685 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC28 Leu1022Val L1022V not reviewed Insufficiently evaluated not reviewed unknown Array rs61739502 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - NEFH Ala672Glu A672E not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - INPP5J Arg751Gln R751Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61747459 118 10490 0.0112488 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.186 - - 0 - 0 N - - ITPR1 His1412Gln H1412Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61757110 56 10736 0.0052161 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - CCDC54 Arg327Gln R327Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10066 0.00466918 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.494 - - 0 - 1 N - - PARP15 Glu145Val E145V not reviewed Insufficiently evaluated not reviewed unknown Array 16 3234 0.00494743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MECOM Asp740Asn D740N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC39 Gln744Glu Q744E not reviewed Insufficiently evaluated not reviewed unknown Array rs61733579 154 9240 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - -2 - 2 N - - RTP1 Cys135Arg C135R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TAPT1 Gly166Cys G166C not reviewed Insufficiently evaluated not reviewed unknown Array 64 9830 0.00651068 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 7 Y 2 N - - FRAS1 Pro2041Ser P2041S not reviewed Insufficiently evaluated not reviewed unknown Array rs60539739 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - FRAS1 Val3950Ala V3950A not reviewed Insufficiently evaluated not reviewed unknown Array rs35379534 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AP1AR Val49Ala V49A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10646 0.00159684 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.274 - - 2 - 1 N - - NM_001099776 Val800Met V800M not reviewed Insufficiently evaluated not reviewed unknown Array rs72900962 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK1 Val98Ile V98I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9544 0.000104777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - IRX4 Thr376Ala T376A not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 1 - 1 N - - MYO10 Glu273Asp E273D not reviewed Insufficiently evaluated not reviewed unknown Array rs6870170 94 9972 0.00942639 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTC23L Ala332Val A332V not reviewed Insufficiently evaluated not reviewed unknown Array 4 9548 0.000418935 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BRIX1 Ile336Ser I336S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 5 Y 1 N - - HEATR7B2 Thr1180Ile T1180I not reviewed Insufficiently evaluated not reviewed unknown Array rs34245494 69 10276 0.00671467 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - ZRSR1 Cys483Tyr C483Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61733664 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHB9 Ala407Glu A407E not reviewed Insufficiently evaluated not reviewed unknown Array rs10037554 797 10758 0.0740844 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PCDHB10 Ala448Asp A448D not reviewed Insufficiently evaluated not reviewed unknown Array rs58753928 5 10742 0.000465462 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.263 - - 5 Y 1 N - - PCDHB12 His659Gln H659Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10051434 12 10350 0.00115942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.257 - - -1 - 1 N - - FCHSD1 Leu101Phe L101F not reviewed Insufficiently evaluated not reviewed unknown Array 24 10508 0.00228397 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.418 - - 0 - 1 N - - HAVCR1 Met182Thr M182T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF354A Val82Ile V82I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - ZNF354A Gly79Ser G79S not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPCR1 Thr44Lys T44K not reviewed Insufficiently evaluated not reviewed unknown Array rs73430198 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCCD1 Thr44Ala T44A not reviewed Insufficiently evaluated not reviewed unknown Array 134 7522 0.0178144 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABHD16A Asn249Asp N249D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - FBXO9 Pro259Ser P259S not reviewed Insufficiently evaluated not reviewed unknown Array 34 9688 0.0035095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD109 Pro4Arg P4R not reviewed Insufficiently evaluated not reviewed unknown Array 37 9870 0.00374873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1009 Arg1116Lys R1116K not reviewed Insufficiently evaluated not reviewed unknown Array rs57366551 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - KIAA1009 Gln128Lys Q128K not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - -2 - 2 N - - CASP8AP2 Ser767Leu S767L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - MMS22L Thr667Ala T667A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - PRDM1 Pro786Thr P786T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEP57L1 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array rs61738593 93 10750 0.00865116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 0 - 0 N - - MICAL1 Pro327Thr P327T not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - 4 Y 1 N - - NM_001089587 Ala133Thr A133T not reviewed Insufficiently evaluated not reviewed unknown Array rs6557280 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MLLT4 Gly1794Glu G1794E not reviewed Insufficiently evaluated not reviewed unknown Array rs6921553 40 9528 0.00419815 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - THSD7A Ile397Thr I397T not reviewed Insufficiently evaluated not reviewed unknown Array 23 9788 0.00234982 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 0 N - - DNAH11 Arg2997His R2997H not reviewed Insufficiently evaluated not reviewed unknown Array rs72657371 154 10202 0.0150951 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - FAM188B Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10072 0.00347498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ABCA13 Leu1925Ser L1925S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - ABCA13 Asp2575Gly D2575G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001039487 Cys272Arg C272R not reviewed Insufficiently evaluated not reviewed unknown Array rs17145838 4 10748 0.000372162 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - 8 Y 2 N - - NM_001039487 Glu136Asp E136D not reviewed Insufficiently evaluated not reviewed unknown Array rs449000 2 66 0.030303 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - NM_001039487 Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array rs395127 2 108 0.0185185 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.845 - - 2 - 1 N - - GTF2IP1 Lys492Glu K492E not reviewed Insufficiently evaluated not reviewed unknown Array rs1637387 3 96 0.03125 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNAT3 Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KPNA7 Thr301Ser T301S not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - -2 - 2 N - - BC046135 Ala68Ser A68S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC032716 Ile82Met I82M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DPY19L2P2 Pro100Ser P100S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC062748 Lys122Arg K122R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.683 - - -3 - 1 N - - FOXP2 Thr463Ala T463A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - KIAA1549 His1834Leu H1834L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9698 0.000309342 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MGAM Met1778Thr M1778T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9570 0.000104493 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.78 - - 2 - 1 N - - ATP6V0E2 Ile10Leu I10L not reviewed Insufficiently evaluated not reviewed unknown Array 98 9390 0.0104366 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CHPF2 Ala401Val A401V not reviewed Insufficiently evaluated not reviewed unknown Array rs7789030 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - DPP6 Arg322His R322H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10064 0.000298092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBM33 Pro1069Leu P1069L not reviewed Insufficiently evaluated not reviewed unknown Array rs73502343 3 128 0.0234375 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR60 Arg593Gln R593Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58538724 15 9700 0.00154639 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF48 Lys142Thr K142T not reviewed Insufficiently evaluated not reviewed unknown Array 62 3234 0.0191713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCM1 Ala360Gly A360G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - C8ORF80 Thr678Met T678M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10036 0.00269031 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IDO1 Ala4Thr A4T not reviewed Insufficiently evaluated not reviewed unknown Array rs35059413 96 9910 0.00968718 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - IDO1 Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753677 86 9552 0.00900335 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SDR16C5 Phe150Ser F150S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 5 Y 0 N - - AK123744 Leu223Val L223V not reviewed Insufficiently evaluated not reviewed unknown Array rs59068490 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM64 Asn161Ser N161S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1429 His25Asn H25N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - MATN2 Phe552Ser F552S not reviewed Insufficiently evaluated not reviewed unknown Array 114 9768 0.0116708 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 5 Y 0 N - - PKHD1L1 Val1448Ile V1448I not reviewed Insufficiently evaluated not reviewed unknown Array 18 9582 0.00187852 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - -4 - 0 N - - NCRNA00255 Pro35Arg P35R not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP39 Leu225Phe L225F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - ZNF517 Glu483Gln E483Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10322 9.688e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RLN1 AlaLys25AspSer AK25DS not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FREM1 Trp1874Cys W1874C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745612 8 10202 0.000784159 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - PLIN2 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - IFNA10 Gly42Ala G42A not reviewed Insufficiently evaluated not reviewed unknown Array 82 10758 0.00762223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF174 Pro548Arg P548R not reviewed Insufficiently evaluated not reviewed unknown Array rs61261278 132 10758 0.0122699 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF883 Thr221Pro T221P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EHMT1 Pro145Ser P145S not reviewed Insufficiently evaluated not reviewed unknown Array rs34704821 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - 3 - 1 N - - GTPBP6 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array 111 10736 0.010339 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP2R3B Pro556Leu P556L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10652 0.00319189 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - TCEANC Val23Ile V23I not reviewed Insufficiently evaluated not reviewed unknown Array 6 745 0.00805369 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRO Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array rs60180407 8 7817 0.00102341 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746688 Leu64Pro L64P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - FAM155B Leu224Val L224V not reviewed Insufficiently evaluated not reviewed unknown Array 35 8761 0.00399498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - RGAG4 Glu380Lys E380K not reviewed Insufficiently evaluated not reviewed unknown Array 4 8151 0.000490737 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XKRX His365Tyr H365Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AMOT Pro55Ser P55S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 3 - 0 N - - KIAA1210 Lys968Arg K968R not reviewed Insufficiently evaluated not reviewed unknown Array 69 7913 0.00871983 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -3 - 1 N - - CPT2 Ser588Cys S588C not reviewed Insufficiently evaluated not reviewed unknown Array rs1871748 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - USH2A Lys2026Arg K2026R not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.401 Y Y -3 - 3 N - - OR2T4 Tyr136Shift Y136Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AL157440 Thr65Shift T65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR52M1 Leu248Shift L248Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR5L1 Cys26Stop C26X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR1S1 Ile10Shift I10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PC Val1131Met V1131M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.988 Y Y 0 - 4 N - - ALG9 Ser255Leu S255L not reviewed Insufficiently evaluated not reviewed unknown Array rs17113312 103 9566 0.0107673 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y 6 Y 2 N - - NM_001080502 Arg667Stop R667X not reviewed Insufficiently evaluated not reviewed unknown Array 3 86 0.0348837 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TBX5 Val412Ile V412I not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.191 Y Y -4 - 2 N - - FREM2 Ser1013SerGlySer S1013SGS not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - AL833908 Tyr397Stop Y397X not reviewed Insufficiently evaluated not reviewed unknown Array rs73587211 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FSCB Trp140Stop W140X not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ADAM20 Ile75Shift I75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GALC Thr468Ser T468S not reviewed Insufficiently evaluated not reviewed unknown Array rs34134328 52 10414 0.00499328 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.99 Y Y -2 - 4 N - - ITGAL Ala779Shift A779Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSNAXIP1 Gln46Stop Q46X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USP10 Asn182Shift N182Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYO15A Asp1049AspIleThrProProLysAsp D1049DITPPKD not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - BRCA1 Leu1564Pro L1564P not reviewed Insufficiently evaluated not reviewed unknown Array rs56119278 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.975 Y Y 7 Y 4 N - - LAMA3 Thr3192Ser T3192S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - AK054965 Glu60Shift E60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK054965 Arg6Shift R6Shift not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALMS1 Pro224His P224H not reviewed Insufficiently evaluated not reviewed unknown Array rs11889925 176 9626 0.0182838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - AX746496 Ala129Shift A129Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59539470 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Arg2056Gly R2056G not reviewed Insufficiently evaluated not reviewed unknown Array 27 9624 0.00280549 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Thr11933Ser T11933S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9568 0.000104515 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL3A1 Pro668Ser P668S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801183 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL5A2 Pro467Leu P467L not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 7 Y 2 N - - GPR1 Glu11Shift E11Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL4A4 Lys17Arg K17R not reviewed Insufficiently evaluated not reviewed unknown Array 39 9862 0.00395457 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.832 Y Y -3 - 3 N - - FERMT1 Met203Del M203Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - C20ORF79 Val58Shift V58Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM65C Trp824Stop W824X not reviewed Insufficiently evaluated not reviewed unknown Array 1 9864 0.000101378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL18A1 Leu1082Del L1082Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CABIN1 Cys1573Stop C1573X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC054862 Trp4Stop W4X not reviewed Insufficiently evaluated not reviewed unknown Array rs73399835 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRP5L Trp250Stop W250X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATXN7 Arg576His R576H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10716 0.000839865 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 1 - 2 N - - CRIPAK Ala90Shift A90Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDGFRA Asp173Shift D173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SPZ1 Val211Shift V211Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPZ1 Glu340Shift E340Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPATA9 Ser131Shift S131Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APC Pro870Ser P870S not reviewed Insufficiently evaluated not reviewed unknown Array rs33974176 115 10756 0.0106917 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - NM_173800 Trp760Stop W760X not reviewed Insufficiently evaluated not reviewed unknown Array rs73263179 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PCDHB14 Asp287Shift D287Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPINK5 Arg518Cys R518C not reviewed Insufficiently evaluated not reviewed unknown Array 85 10130 0.00839092 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - PKHD1 Met947Val M947V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CFTR Ile1328Thr I1328T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - CFTR Ala1374Gly A1374G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.86 Y Y 1 - 4 N - - GPR37 Glu152Shift E152Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARHGEF35 His8Shift H8Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 44 0.0909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYST3 Glu1288Shift E1288Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC011779 Arg222Stop R222X not reviewed Insufficiently evaluated not reviewed unknown Array rs7040398 1 2 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - FUT7 Arg259Shift R259Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARSE Arg183His R183H not reviewed Insufficiently evaluated not reviewed unknown Array rs34412194 142 8761 0.0162082 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DMD Ala2923Ser A2923S not reviewed Insufficiently evaluated not reviewed unknown Array 6 8759 0.000685009 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 Y Y -1 - 2 N - - DMD Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733589 5 8759 0.000570841 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - ODZ1 Gly997Shift G997Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGRN Thr1819Ile T1819I not reviewed Insufficiently evaluated not reviewed unknown Array rs72900459 6 10628 0.000564546 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - NPHP4 Asp1413Asn D1413N not reviewed Insufficiently evaluated not reviewed unknown Array 43 10416 0.00412826 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - -1 - 3 N - - PER3 Arg214Cys R214C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PER3 Cys1176Ser C1176S not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VPS13D Val238Ile V238I not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FHAD1 Ala507Val A507V not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KLHDC7A Pro392Arg P392R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10492 0.000857796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYF2 Ile184Val I184V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C1ORF63 Val216Ala V216A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARID1A Gln510Pro Q510P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BAI2 Thr1503Met T1503M not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - 2 - 1 N - - TMEM39B Arg283His R283H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CC2D1B His491Asp H491D not reviewed Insufficiently evaluated not reviewed unknown Array rs62000440 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.955 - - 3 - 2 N - - ZYG11B Gly275Glu G275E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - BC128117 Lys70Thr K70T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM48 Ala93Val A93V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10746 0.00260562 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - USP24 Lys700Arg K700R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - L1TD1 Ser298Asn S298N not reviewed Insufficiently evaluated not reviewed unknown Array 5 7408 0.000674946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC7 His1054Tyr H1054Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12069888 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.345 - - -1 - 1 N - - C1ORF173 Ser581Leu S581L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C1ORF173 Glu561Asp E561D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKNAD1 His255Tyr H255Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9440631 239 10758 0.022216 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.097 - - -1 - 0 N - - AX747534 Ile19Val I19V not reviewed Insufficiently evaluated not reviewed unknown Array rs3005605 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NUP210L Gln1661Pro Q1661P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - GON4L Thr416Ala T416A not reviewed Insufficiently evaluated not reviewed unknown Array rs34939643 219 10758 0.0203569 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.38 - - 1 - 1 N - - OR10X1 Leu203Gln L203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61755876 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 2 N - - OR10Z1 His56Asn H56N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 0 - 2 N - - SPTA1 Thr1054Ser T1054S not reviewed Insufficiently evaluated not reviewed unknown Array 42 10020 0.00419162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPTA1 Pro1050Leu P1050L not reviewed Insufficiently evaluated not reviewed unknown Array 63 10034 0.00627865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC19 Arg441Gln R441Q not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCY10 Leu363Pro L363P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - C1ORF114 Arg359Gln R359Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FMO6P Ala74Ser A74S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNR Thr383Met T383M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF125 Leu466Phe L466F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM58B Tyr148His Y148H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - AX746585 Leu32Trp L32W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPS6KC1 Pro561Arg P561R not reviewed Insufficiently evaluated not reviewed unknown Array rs17020314 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.237 - - 5 Y 1 N - - SPATA17 Asn288Ile N288I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 7 Y 0 N - - KIAA1383 Gln361Lys Q361K not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIF26B Thr637Met T637M not reviewed Insufficiently evaluated not reviewed unknown Array 33 9846 0.00335161 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KIF26B Asp1153Asn D1153N not reviewed Insufficiently evaluated not reviewed unknown Array rs73127009 19 10488 0.00181159 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2B11 Cys183Phe C183F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - OR2M5 Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.885 - - 6 Y 2 N - - OR2T34 Thr214Ala T214A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10622 0.000282432 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - OR2T34 Thr204Met T204M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLLT10 Phe294Ser F294S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - ANKRD26 Phe1382Tyr F1382Y not reviewed Insufficiently evaluated not reviewed unknown Array 56 9292 0.00602669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1462 Arg230Pro R230P not reviewed Insufficiently evaluated not reviewed unknown Array 20 10000 0.002 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 5 Y 0 N - - ANKRD30A Gly581Glu G581E not reviewed Insufficiently evaluated not reviewed unknown Array rs12766878 156 9492 0.0164349 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF105 Pro26Ser P26S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AL157440 Pro68His P68H not reviewed Insufficiently evaluated not reviewed unknown Array rs2279601 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LOXL4 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - CNNM1 Asp574Val D574V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNMBP Asn373Lys N373K not reviewed Insufficiently evaluated not reviewed unknown Array rs35924554 583 10758 0.0541922 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - PRDX3 Ser55Arg S55R not reviewed Insufficiently evaluated not reviewed unknown Array rs34698541 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.803 - - 3 - 1 N - - PHRF1 Ala1638Val A1638V not reviewed Insufficiently evaluated not reviewed unknown Array rs73398389 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - MUC5AC Gly6193Val G6193V not reviewed Insufficiently evaluated not reviewed unknown Array rs56073708 12 4564 0.00262927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF195 Ser322Thr S322T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR51L1 Ala179Ser A179S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - OR52N4 Asp123Ala D123A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - NLRP14 Phe353Ser F353S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - SLC5A12 Val143Leu V143L not reviewed Insufficiently evaluated not reviewed unknown Array 152 10756 0.0141316 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - LDLRAD3 Thr342Ser T342S not reviewed Insufficiently evaluated not reviewed unknown Array rs35922204 114 10752 0.0106027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - OR5AK2 Ser262Phe S262F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 5 Y 0 N - - PATL1 Tyr645Cys Y645C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10020 0.00808383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - GANAB Arg331Cys R331C not reviewed Insufficiently evaluated not reviewed unknown Array rs1063445 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RTN3 Pro584Leu P584L not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLRT1 Arg326Lys R326K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLCO2B1 Met490Val M490V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - OMP Arg28His R28H not reviewed Insufficiently evaluated not reviewed unknown Array rs2233547 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 1 - 2 N - - GDPD4 Pro241Leu P241L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.916 - - 7 Y 2 N - - USP35 Lys721Del K721Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1731 Leu850Phe L850F not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - BCO2 Arg332Trp R332W not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TAGLN Val77Leu V77L not reviewed Insufficiently evaluated not reviewed unknown Array rs36112166 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - ARHGEF12 ProGlu638SerGln PE638SQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4D5 Ile154Val I154V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GLB1L3 Trp53Cys W53C not reviewed Insufficiently evaluated not reviewed unknown Array 230 10278 0.0223779 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KDM5A His1068Pro H1068P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FOXM1 Ser180Arg S180R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TULP3 Ala296Glu A296E not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DERA Arg80Gln R80Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 9602 0.00322849 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.257 - - 0 - 1 N - - PLEKHA5 Asp180Tyr D180Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ANO6 Arg190Trp R190W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - MCRS1 Arg422Gln R422Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LETMD1 Leu180Ser L180S not reviewed Insufficiently evaluated not reviewed unknown Array rs34293530 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 6 Y 1 N - - KRT85 Val227Ile V227I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - NPFF Arg109Cys R109C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CALCOCO1 Pro560Arg P560R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 0 N - - LRP1 Leu2456Pro L2456P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 7 Y 2 N - - AVPR1A Ser382Arg S382R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 3 - 1 N - - C12ORF28 Ser88Leu S88L not reviewed Insufficiently evaluated not reviewed unknown Array rs35051828 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - THAP2 Thr170Met T170M not reviewed Insufficiently evaluated not reviewed unknown Array rs17110155 305 10758 0.028351 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.966 - - 2 - 2 N - - MGAT4C Arg303Cys R303C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DAO Arg91Cys R91C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF10 Pro97Leu P97L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - WDR66 Thr12Asn T12N not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX55 Asn136Lys N136K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 1 - 2 N - - FAM101A Ala45Val A45V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IFT88 Cys663Ser C663S not reviewed Insufficiently evaluated not reviewed unknown Array 159 10754 0.0147852 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF17 Met350Val M350V not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - ELF1 Val415Ile V415I not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NEK3 Arg360Gln R360Q not reviewed Insufficiently evaluated not reviewed unknown Array rs74087069 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDH17 Arg945Gln R945Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ATP11A Leu1096Met L1096M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC034570 Pro207Leu P207L not reviewed Insufficiently evaluated not reviewed unknown Array rs9604524 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GMPR2 Arg329Gly R329G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 6 Y 2 N - - ARHGAP5 Arg635Trp R635W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.771 - - 7 Y 1 N - - MIA2 Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NIN Ile1671Val I1671V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746444 105 10756 0.00976199 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NIN Val1152Phe V1152F not reviewed Insufficiently evaluated not reviewed unknown Array rs61742284 106 10758 0.00985313 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - ACOT1 Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.887 - - 1 - 2 N - - VRTN Leu53Phe L53F not reviewed Insufficiently evaluated not reviewed unknown Array rs2232032 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.059 - - 0 - 0 N - - NEK9 Arg786Gln R786Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - SAMD15 Met1Arg M1R not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SPTLC2 Asp214Glu D214E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - CCDC88C Arg735His R735H not reviewed Insufficiently evaluated not reviewed unknown Array 104 10630 0.00978363 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - GOLGA5 Asn380Ser N380S not reviewed Insufficiently evaluated not reviewed unknown Array rs35865539 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF839 Asp584Glu D584E not reviewed Insufficiently evaluated not reviewed unknown Array 61 10248 0.00595238 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CKB Ser309Leu S309L not reviewed Insufficiently evaluated not reviewed unknown Array rs35156510 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 6 Y 0 N - - KIAA0284 Arg1048Cys R1048C not reviewed Insufficiently evaluated not reviewed unknown Array rs62641740 41 10160 0.00403543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KIAA0284 Thr1117Ile T1117I not reviewed Insufficiently evaluated not reviewed unknown Array rs62641741 9 9306 0.000967117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - AHNAK2 Asn1723Asp N1723D not reviewed Insufficiently evaluated not reviewed unknown Array rs60164864 390 9566 0.0407694 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AHNAK2 Phe1663Leu F1663L not reviewed Insufficiently evaluated not reviewed unknown Array 81 9868 0.00820835 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PACS2 Ala341Thr A341T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR619482 Glu164Lys E164K not reviewed Insufficiently evaluated not reviewed unknown Array rs56394401 3 124 0.0241935 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB061718 Arg37Cys R37C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GABRG3 Lys351Del K351Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GOLGA8A Glu580Asp E580D not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - IVD His30Tyr H30Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73383128 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - RPUSD2 Asp338Asn D338N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.698 - - -1 - 1 N - - CASC5 Met411Ile M411I not reviewed Insufficiently evaluated not reviewed unknown Array 24 9496 0.00252738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAL Stop268Ser X268S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RFX7 Ala1235Val A1235V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BNIP2 Thr87Ser T87S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.461 - - -2 - 1 N - - NEO1 Thr886Ala T886A not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.82 - - 1 - 1 N - - SNUPN Val122Ile V122I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - -4 - 2 N - - ADAMTSL3 Ala1058Val A1058V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF7 Arg812Gln R812Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73477443 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF7 Glu266Gln E266Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SEMA4B Ser632Leu S632L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10238 0.00273491 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDIA2 Met93Val M93V not reviewed Insufficiently evaluated not reviewed unknown Array 254 10522 0.0241399 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.062 - - 0 - 0 N - - AXIN1 Gly425Ser G425S not reviewed Insufficiently evaluated not reviewed unknown Array 188 10194 0.0184422 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK128777 Ala22Val A22V not reviewed Insufficiently evaluated not reviewed unknown Array rs73485459 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZG16B Leu85Del L85Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLX4 Glu701Asp E701D not reviewed Insufficiently evaluated not reviewed unknown Array rs73505420 34 10758 0.00316044 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.184 - - -2 - 0 N - - NMRAL1 Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - C16ORF82 Pro140Ser P140S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF82 Ile193Thr I193T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF93 Glu223Gln E223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61746942 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCC11 Asp22Asn D22N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - CYLD Gln188Glu Q188E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - AF452719 Ala4Glu A4E not reviewed Insufficiently evaluated not reviewed unknown Array rs73558646 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRSS54 Lys210Asn K210N not reviewed Insufficiently evaluated not reviewed unknown Array rs61738893 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 1 - 0 N - - GOT2 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - CDH5 Ile171Val I171V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC12A4 Arg946Trp R946W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.851 - - 7 Y 2 N - - AARS Val380Ala V380A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - HYDIN Gly2833Val G2833V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZFHX3 Pro104Leu P104L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10726 0.00186463 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - BC037579 Ile300Thr I300T not reviewed Insufficiently evaluated not reviewed unknown Array rs73604764 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM38A Glu2036Gln E2036Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73262683 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR3A1 Gly211Asp G211D not reviewed Insufficiently evaluated not reviewed unknown Array rs61734041 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.83 - - 4 Y 1 N - - OR3A4 Thr80Pro T80P not reviewed Insufficiently evaluated not reviewed unknown Array rs61734052 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPNS3 Leu51Val L51V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - ARRB2 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 2 - 2 N - - C17ORF107 Arg124Trp R124W not reviewed Insufficiently evaluated not reviewed unknown Array 14 3190 0.00438871 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WSCD1 Ser535Pro S535P not reviewed Insufficiently evaluated not reviewed unknown Array rs61735453 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALOX12 Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PFAS Val343Met V343M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC42 Arg141Trp R141W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - SLC5A10 Pro469Ser P469S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF108 Thr42Met T42M not reviewed Insufficiently evaluated not reviewed unknown Array rs73267188 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0100 Leu1007Val L1007V not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SEZ6 Arg666His R666H not reviewed Insufficiently evaluated not reviewed unknown Array 36 9778 0.00368173 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MYO1D Thr266Arg T266R not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - SLFN12L Leu548Ser L548S not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX52 Lys270Gln K270Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDC27 ThrLeu611SerAla TL611SA not reviewed Insufficiently evaluated not reviewed unknown Array rs67865322 4 76 0.0526316 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CDC27 Tyr606Asp Y606D not reviewed Insufficiently evaluated not reviewed unknown Array rs11570544 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - B4GALNT2 Phe55Leu F55L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10054 0.000198925 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC033456 Gly100Arg G100R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPN3 Leu311Met L311M not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -3 - 0 N - - FTSJ3 Asn85Ser N85S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.484 - - 0 - 1 N - - WIPI1 Ala191Val A191V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.858 - - 2 - 2 N - - FDXR Thr345Met T345M not reviewed Insufficiently evaluated not reviewed unknown Array rs35660143 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.12 - - 2 - 0 N - - C17ORF28 Thr681Met T681M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPHK1 Arg365His R365H not reviewed Insufficiently evaluated not reviewed unknown Array rs34632043 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BIRC5 Pro76Leu P76L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK057217 Asn445Ser N445S not reviewed Insufficiently evaluated not reviewed unknown Array rs73395167 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAHCC1 Ala750Val A750V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAHCC1 His2024Arg H2024R not reviewed Insufficiently evaluated not reviewed unknown Array rs73365661 96 8508 0.0112835 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF70 Ala425Thr A425T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPB41L3 Glu859Gln E859Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8096452 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - TRAPPC8 Leu278Val L278V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZSCAN30 Glu358Gln E358Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 7820 0.000511508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - POLI His474Arg H474R not reviewed Insufficiently evaluated not reviewed unknown Array rs3730823 18 10716 0.00167973 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD226 Ile140Val I140V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RTTN Glu1194Gly E1194G not reviewed Insufficiently evaluated not reviewed unknown Array rs34533087 55 9672 0.00568652 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - NFATC1 Pro510Glu P510E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RBFA Lys185Glu K185E not reviewed Insufficiently evaluated not reviewed unknown Array rs73483547 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - NM_024888 Leu70Phe L70F not reviewed Insufficiently evaluated not reviewed unknown Array 43 10740 0.00400372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.425 - - 0 - 1 N - - AX747577 His54Gln H54Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMPRSS9 Ile617Thr I617T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.686 - - 3 - 1 N - - APBA3 Ala493Thr A493T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ANKRD24 His361Tyr H361Y not reviewed Insufficiently evaluated not reviewed unknown Array 47 10006 0.00469718 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PLIN4 Gly996Glu G996E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - PLIN4 Val602Ile V602I not reviewed Insufficiently evaluated not reviewed unknown Array rs73540178 36 10462 0.00344102 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.104 - - -4 - 0 N - - PLIN4 Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array rs73540201 7 10074 0.000694858 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - BC117296 Gly78Arg G78R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC25A41 Thr258Ser T258S not reviewed Insufficiently evaluated not reviewed unknown Array rs11883242 65 10614 0.00612399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - -2 - 1 N - - DENND1C Arg765Gln R765Q not reviewed Insufficiently evaluated not reviewed unknown Array 56 9760 0.0057377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FBN3 Pro2174Leu P2174L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAM1 Glu546Del E546Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Ser8798Leu S8798L not reviewed Insufficiently evaluated not reviewed unknown Array 129 10130 0.0127345 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Thr617Ile T617I not reviewed Insufficiently evaluated not reviewed unknown Array 147 10726 0.013705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LDLR Ala232Thr A232T not reviewed Insufficiently evaluated not reviewed unknown Array rs72658857 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ZNF627 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10574 0.001324 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 8 Y 0 N - - NANOS3 Leu46Pro L46P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PODNL1 Glu113Lys E113K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - OR7A5 Ile214Met I214M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731998 221 10758 0.0205429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -1 - 2 N - - CALR3 Arg356Leu R356L not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 6 Y 1 N - - NWD1 His800Ser H800S not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1683 Met1320Ile M1320I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF737 Thr274Ala T274A not reviewed Insufficiently evaluated not reviewed unknown Array rs57697587 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF430 His531Arg H531R not reviewed Insufficiently evaluated not reviewed unknown Array rs61744901 92 10754 0.00855496 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TDRD12 Ala346Thr A346T not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - NM_014727 Thr172Ile T172I not reviewed Insufficiently evaluated not reviewed unknown Array rs60207923 9 9884 0.000910562 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF569 Arg34Trp R34W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - PSG5 Gly277Arg G277R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 6 Y 0 N - - PSG4 Arg313Trp R313W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSG9 Arg166His R166H not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - ZNF225 Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.39 - - 6 Y 1 N - - ZNF225 Met311Val M311V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - CEACAM20 Glu497Lys E497K not reviewed Insufficiently evaluated not reviewed unknown Array rs73560086 35 9858 0.00355041 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEACAM20 Thr278Ala T278A not reviewed Insufficiently evaluated not reviewed unknown Array 99 10450 0.00947368 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEACAM20 Arg113His R113H not reviewed Insufficiently evaluated not reviewed unknown Array rs13345196 204 10408 0.0196003 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC61 Val480Met V480M not reviewed Insufficiently evaluated not reviewed unknown Array 6 9726 0.000616903 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC8A2 Glu710Del E710Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPHK2 Glu149Lys E149K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10054 0.00298389 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.69 - - 0 - 1 N - - NR_004401 Ala42Thr A42T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIGLEC7 Met181Val M181V not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CLDND2 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array rs34633086 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NKG7 Arg116Gln R116Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34665160 134 10758 0.0124558 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - LAIR1 Thr250Met T250M not reviewed Insufficiently evaluated not reviewed unknown Array rs61742614 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 2 - 0 N - - LAIR1 Pro140Leu P140L not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - NLRP4 Val376Ile V376I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NLRP13 Arg205His R205H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740413 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - 1 - 0 N - - ZNF587 Ser495Asn S495N not reviewed Insufficiently evaluated not reviewed unknown Array rs61735221 336 10758 0.0312326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.257 - - 0 - 1 N - - APOB Met4268Thr M4268T not reviewed Insufficiently evaluated not reviewed unknown Array rs72654422 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - APOB Glu2414Asp E2414D not reviewed Insufficiently evaluated not reviewed unknown Array rs72653091 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FAM179A Ser386Leu S386L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - STON1-GTF2A1L Asp169Val D169V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AHSA2 Lys69Del K69Del not reviewed Insufficiently evaluated not reviewed unknown Array rs58440717 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS54 Ser561Cys S561C not reviewed Insufficiently evaluated not reviewed unknown Array rs34015596 298 10758 0.0277003 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - TGFA Val109Met V109M not reviewed Insufficiently evaluated not reviewed unknown Array rs11466259 121 10746 0.01126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - TEKT4 Ser349Leu S349L not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 6 Y 2 N - - TEKT4 Arg351Trp R351W not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - TEKT4 ArgAsp358GlyAsn RD358GN not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM131 Val1791Asp V1791D not reviewed Insufficiently evaluated not reviewed unknown Array 205 10378 0.0197533 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ST6GAL2 Ser122Thr S122T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10734 0.00381964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - -2 - 1 N - - GPR39 Gln449Del Q449Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCKAP5 Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58963837 2 9890 0.000202224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.91 - - 0 - 2 N - - STAM2 Ala267Val A267V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UPP2 Met78Leu M78L not reviewed Insufficiently evaluated not reviewed unknown Array rs7561584 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.647 - - -3 - 1 N - - LRP2 Asp2101Gly D2101G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 - Y 4 Y 3 N - - C2ORF77 ArgGlu364Del RE364Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CWC22 Leu509Ser L509S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - PIKFYVE Gln78Leu Q78L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.868 - - 5 Y 2 N - - DOCK10 Lys389Arg K389R not reviewed Insufficiently evaluated not reviewed unknown Array 6 9530 0.00062959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IQCA1 Ile293Val I293V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - BC047423 Gly77Arg G77R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PER2 Cys1084Arg C1084R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - DEFB132 Val93Thr V93T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SOX12 Glu243Gly E243G not reviewed Insufficiently evaluated not reviewed unknown Array rs73574574 45 10082 0.0044634 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIB3 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array rs61740293 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF196 Thr61Ala T61A not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIN2 Ala643Thr A643T not reviewed Insufficiently evaluated not reviewed unknown Array rs199603 60 9778 0.00613622 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF26 Arg1155His R1155H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASXL1 Val750Ile V750I not reviewed Insufficiently evaluated not reviewed unknown Array rs6058693 259 10758 0.0240751 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MMP24 Asn508Asp N508D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC031254 Thr31Met T31M not reviewed Insufficiently evaluated not reviewed unknown Array rs59031440 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1755 Arg575His R575H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CASS4 Ser426Leu S426L not reviewed Insufficiently evaluated not reviewed unknown Array rs34899200 195 10756 0.0181294 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - SYCP2 Asn809Ser N809S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10728 0.00382177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - SRMS Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - NRIP1 Val37Ile V37I not reviewed Insufficiently evaluated not reviewed unknown Array rs9941840 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - LTN1 Ala500Val A500V not reviewed Insufficiently evaluated not reviewed unknown Array rs16983580 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP13-4 Gly96Asp G96D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 4 Y 2 N - - KRTAP11-1 Cys56Tyr C56Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - SON Tyr1402Cys Y1402C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.149 - - 6 Y 0 N - - PIGP Ser63Phe S63F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.605 - - 5 Y 1 N - - C2CD2 Met188Ile M188I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 0 N - - ZNF295 Arg249Ile R249I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 7 Y 0 N - - CABIN1 Ser1416Asn S1416N not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUSD2 Arg499Cys R499C not reviewed Insufficiently evaluated not reviewed unknown Array 163 10754 0.0151572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SGSM1 Asp600Asn D600N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - -1 - 1 N - - MYO18B Asn726Ser N726S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.173 - - 0 - 0 N - - RFPL1 SerTrp93IleArg SW93IR not reviewed Insufficiently evaluated not reviewed unknown Array rs61739565 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCF4 Arg153His R153H not reviewed Insufficiently evaluated not reviewed unknown Array rs35160112 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CR594457 Arg24His R24H not reviewed Insufficiently evaluated not reviewed unknown Array rs35429467 38 10758 0.00353226 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CACNA1I Gly600Arg G600R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - MEI1 Ser853Thr S853T not reviewed Insufficiently evaluated not reviewed unknown Array rs17002665 131 9884 0.0132537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRR5-ARHGAP8 Pro212Leu P212L not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TUBGCP6 Val40Met V40M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.212 - - 0 - 1 N - - C3ORF31 Asn104Ser N104S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBLN2 Leu675Met L675M not reviewed Insufficiently evaluated not reviewed unknown Array rs57991533 2 9942 0.000201166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C3ORF48 Glu15Gln E15Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73176090 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMPPE Arg311Gln R311Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 0 - 0 N - - ZNF662 Pro79Arg P79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 5 Y 1 N - - BX648094 Met290Val M290V not reviewed Insufficiently evaluated not reviewed unknown Array rs72868354 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TGM4 Arg372Tyr R372Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3749195 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SETD2 Thr425Arg T425R not reviewed Insufficiently evaluated not reviewed unknown Array rs72895708 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCP1A Arg138Trp R138W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10008 9.992e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CRYBG3 Ser374Phe S374F not reviewed Insufficiently evaluated not reviewed unknown Array 2 9446 0.000211729 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 5 Y 2 N - - OR5H6 Asn186Ser N186S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - BC038577 Gly87Ser G87S not reviewed Insufficiently evaluated not reviewed unknown Array rs61739465 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GOLGB1 Glu572Lys E572K not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - COL6A5 Ile1882Val I1882V not reviewed Insufficiently evaluated not reviewed unknown Array rs61750883 36 3234 0.0111317 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.782 - - -4 - 1 N - - ASTE1 Phe203Val F203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 3 - 2 N - - NEK11 Ser412Pro S412P not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - AX746877 Ala101Asp A101D not reviewed Insufficiently evaluated not reviewed unknown Array rs72978798 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM194A Arg604His R604H not reviewed Insufficiently evaluated not reviewed unknown Array rs34137455 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - IGSF10 Gln667Lys Q667K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - -2 - 2 N - - MECOM Ala30Ser A30S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP13 Val495Met V495M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.213 - - 0 - 1 N - - BC001200 Leu499Pro L499P not reviewed Insufficiently evaluated not reviewed unknown Array rs73051619 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC001200 Asp603Tyr D603Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TFRC Gly420Ser G420S not reviewed Insufficiently evaluated not reviewed unknown Array rs41295879 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MFI2 Val55Ile V55I not reviewed Insufficiently evaluated not reviewed unknown Array 117 10756 0.0108776 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - IQCG Ile213Thr I213T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - 3 - 1 N - - GRK4 Gly76Ala G76A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CRMP1 Gly261Arg G261R not reviewed Insufficiently evaluated not reviewed unknown Array 249 10758 0.0231456 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAN2B2 Arg97His R97H not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEL1L3 Ala429Thr A429T not reviewed Insufficiently evaluated not reviewed unknown Array 5 9862 0.000506996 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIMCH1 Pro568Leu P568L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HERC5 Ile388Val I388V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATOH1 Gly270Arg G270R not reviewed Insufficiently evaluated not reviewed unknown Array rs35227734 127 10730 0.011836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 6 Y 1 N - - SEC24D Asp274Glu D274E not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - -2 - 2 N - - SEC24D Pro200Leu P200L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746903 Arg74Gln R74Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAT4 Tyr3199Cys Y3199C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 6 Y 2 N - - MAML3 Ala198Val A198V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10130 0.000987166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCHS2 Thr2112Met T2112M not reviewed Insufficiently evaluated not reviewed unknown Array rs17031279 229 10758 0.0212865 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 2 N - - STOX2 Ser254Leu S254L not reviewed Insufficiently evaluated not reviewed unknown Array 21 9510 0.0022082 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - SLC12A7 Asn944Ser N944S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C5ORF22 Asn287Ser N287S not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDZD2 Asp1154His D1154H not reviewed Insufficiently evaluated not reviewed unknown Array rs34139068 26 10758 0.00241681 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.38 - - 3 - 1 N - - SPEF2 Ala540Val A540V not reviewed Insufficiently evaluated not reviewed unknown Array 85 9634 0.00882292 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPEF2 Ile709Met I709M not reviewed Insufficiently evaluated not reviewed unknown Array 85 9720 0.00874486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UTP15 Arg433Lys R433K not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.661 - - -3 - 1 N - - TMEM232 Asp399Asn D399N not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM232 Cys78Arg C78R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - YTHDC2 Arg1139Thr R1139T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AP3S1 Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 38 10754 0.00353357 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ADAMTS19 Pro546Leu P546L not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC22A5 Thr232Met T232M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.859 Y - 2 - 3 N - - FBXL21 Gln394His Q394H not reviewed Insufficiently evaluated not reviewed unknown Array rs73290905 18 9702 0.00185529 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIF20A Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.797 - - 7 Y 1 N - - STK32A Ile295Val I295V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDGFRB Gly1040Val G1040V not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 8 Y 0 N - - GEMIN5 Ser213Pro S213P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPRIN1 Ser133Tyr S133Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - GCM2 Val495Ala V495A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - MICA Val49Gly V49G not reviewed Insufficiently evaluated not reviewed unknown Array rs17200158 18 3234 0.00556586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRRC2A Arg1441His R1441H not reviewed Insufficiently evaluated not reviewed unknown Array rs73398210 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDGA1 Glu718Asp E718D not reviewed Insufficiently evaluated not reviewed unknown Array 101 10468 0.00964845 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.36 - - -2 - 1 N - - ABCC10 Leu325Phe L325F not reviewed Insufficiently evaluated not reviewed unknown Array rs73424611 20 10758 0.00185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SPATS1 Glu268Asp E268D not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - -2 - 2 N - - GSTA3 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45602042 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DST Cys3836Ser C3836S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL19A1 Pro719Leu P719L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - FAM135A Ser1465Asn S1465N not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL12A1 Ser2994Pro S2994P not reviewed Insufficiently evaluated not reviewed unknown Array rs34846477 150 9468 0.0158428 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1009 Asp1068Val D1068V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - ANKRD6 Ser634Gly S634G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739325 27 10366 0.00260467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MDN1 Arg2640Trp R2640W not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - USP45 Ala14Thr A14T not reviewed Insufficiently evaluated not reviewed unknown Array rs61750879 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK124171 Glu223Ala E223A not reviewed Insufficiently evaluated not reviewed unknown Array rs73519211 1 112 0.00892857 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAMA2 Asn2841Ser N2841S not reviewed Insufficiently evaluated not reviewed unknown Array rs73599293 253 10758 0.0235174 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ECT2L Phe4Leu F4L not reviewed Insufficiently evaluated not reviewed unknown Array 173 9548 0.018119 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SASH1 Gln110Glu Q110E not reviewed Insufficiently evaluated not reviewed unknown Array rs34521137 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - ULBP3 Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35374376 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF97 Glu451Lys E451K not reviewed Insufficiently evaluated not reviewed unknown Array rs35618148 2 9784 0.000204415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIAM2 Glu1520Lys E1520K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - 0 - 1 N - - LPA Ser1193Phe S1193F not reviewed Insufficiently evaluated not reviewed unknown Array 13 10344 0.00125677 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LPA Ser892Gly S892G not reviewed Insufficiently evaluated not reviewed unknown Array rs41269892 35 10528 0.00332447 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RPS6KA2 Lys344Arg K344R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RBAK Asn247Ser N247S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10756 0.00232428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH11 Thr2550Ala T2550A not reviewed Insufficiently evaluated not reviewed unknown Array rs2072221 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - CLK2P Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM188B Asn729Ser N729S not reviewed Insufficiently evaluated not reviewed unknown Array rs61744238 40 10424 0.0038373 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - AK225487 Gly37Arg G37R not reviewed Insufficiently evaluated not reviewed unknown Array rs2232122 3 126 0.0238095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDC14C MetTyr237IleHis MY237IH not reviewed Insufficiently evaluated not reviewed unknown Array rs391026 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC14C Thr244Met T244M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EIF4H Ser21Pro S21P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RHBDD2 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10296 0.000777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CASD1 Asn388Asp N388D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - PTCD1 Ser505Phe S505F not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 5 Y 2 N - - ZAN Ile964Val I964V not reviewed Insufficiently evaluated not reviewed unknown Array 55 9654 0.00569712 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZAN Gly1169Trp G1169W not reviewed Insufficiently evaluated not reviewed unknown Array 54 10284 0.00525087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Gln2329Lys Q2329K not reviewed Insufficiently evaluated not reviewed unknown Array rs73411159 51 9956 0.00512254 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC17 Thr3205Ala T3205A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RELN Val1762Ile V1762I not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - CTTNBP2 Gln648Glu Q648E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 1 N - - AASS Leu561Phe L561F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC13A1 Gln157Glu Q157E not reviewed Insufficiently evaluated not reviewed unknown Array rs28364196 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.632 - - -2 - 1 N - - EXOC4 Glu38Lys E38K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - NM_001126311 Thr41Ile T41I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001001317 Arg63Trp R63W not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - AB306208 Val73Ala V73A not reviewed Insufficiently evaluated not reviewed unknown Array rs62001054 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF746 Lys51Asn K51N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - NCAPG2 Arg753Cys R753C not reviewed Insufficiently evaluated not reviewed unknown Array rs61745702 47 10084 0.00466085 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - RP1L1 Gly1364Ala G1364A not reviewed Insufficiently evaluated not reviewed unknown Array 112 9846 0.0113752 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PINX1 Ala274Ser A274S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - DLC1 Phe257Ile F257I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDGFRL Trp4Cys W4C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TNFRSF10D Lys179Asn K179N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNFRSF10D Asn171Asp N171D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TNFRSF10D Val167Glu V167E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WRN Glu423Ala E423A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - RNF5P1 GluCys62AspArg EC62DR not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ST18 Asn208His N208H not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - RGS20 Val336Ala V336A not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - CR611604 Ser12Ile S12I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MTERFD1 Asn51Ser N51S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - NCRNA00255 Arg107Thr R107T not reviewed Insufficiently evaluated not reviewed unknown Array rs16889211 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSDMC Tyr343Cys Y343C not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 6 Y 2 N - - JRK Ala355Val A355V not reviewed Insufficiently evaluated not reviewed unknown Array 57 10064 0.00566375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPPK1 Ser2143Gly S2143G not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL33 His201Gln H201Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35277373 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -1 - 2 N - - MPDZ Glu702Met E702M not reviewed Insufficiently evaluated not reviewed unknown Array rs4740548 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C9ORF93 GlnArg941HisTrp QR941HW not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DDX58 His317Asn H317N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - BC011779 Val223Met V223M not reviewed Insufficiently evaluated not reviewed unknown Array rs10436128 1 2 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BC011779 Gln219Leu Q219L not reviewed Insufficiently evaluated not reviewed unknown Array 1 2 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - FAM75D1 His1421Tyr H1421Y not reviewed Insufficiently evaluated not reviewed unknown Array rs73480303 168 9724 0.0172768 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - FAM75D1 Pro1519Arg P1519R not reviewed Insufficiently evaluated not reviewed unknown Array rs73480308 185 10512 0.0175989 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - CR612236 Ser139Leu S139L not reviewed Insufficiently evaluated not reviewed unknown Array rs73526054 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF3 His474Arg H474R not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM14 Thr225Met T225M not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.521 - - 2 - 1 N - - CYLC2 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - OR13F1 Phe12Leu F12L not reviewed Insufficiently evaluated not reviewed unknown Array rs28553883 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PHF19 Ala5Gly A5G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LHX2 Ala54Gly A54G not reviewed Insufficiently evaluated not reviewed unknown Array 2 66 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - LAMC3 Gly598Arg G598R not reviewed Insufficiently evaluated not reviewed unknown Array 112 10752 0.0104167 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NUP214 Val1673Leu V1673L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735510 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRRC2B Met417Val M417V not reviewed Insufficiently evaluated not reviewed unknown Array rs34553878 7 0 7 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FUT7 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - MAN1B1 Glu651Lys E651K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FAM9A Gly256Del G256Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BMP15 Leu148Pro L148P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - ARMCX3 Phe335Tyr F335Y not reviewed Insufficiently evaluated not reviewed unknown Array 46 8715 0.00527825 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - SERPINA7 Glu414Asp E414D not reviewed Insufficiently evaluated not reviewed unknown Array rs61730548 52 8760 0.00593607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - VSIG1 Val21Leu V21L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - ZBTB33 Lys407Glu K407E not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - SMARCA1 Gly731Ala G731A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 1 - 2 N - - CCDC160 Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR101 Pro432Ser P432S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - BC042039 Ala29Gly A29G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAGEA11 Ser191Arg S191R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233049 11 8761 0.00125556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.069 - - 3 - 0 N - - EFCAB7 Cys448Stop C448X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLG Gly3608Arg G3608R not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.075 Y Y 6 Y 2 N - - FLG Asn3605Ser N3605S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.595 Y Y 0 - 3 N - - GBA Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - NTRK1 Ala758Thr A758T not reviewed Insufficiently evaluated not reviewed unknown Array rs62640939 65 10734 0.00605552 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 1 - 2 N - - PAPPA2 Val1689Shift V1689Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TDRD5 Asn821Shift N821Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1E Leu808Shift L808Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TROVE2 Tyr358Shift Y358Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UPF2 Ile869Shift I869Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDH15 Arg962His R962H not reviewed Insufficiently evaluated not reviewed unknown Array rs45483395 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.977 Y Y 1 - 4 N - - EGR2 Gly46Val G46V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.971 Y Y 8 Y 4 N - - ABCC8 Thr1194Ile T1194I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYRK4 Ser272Shift S272Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GUCY2C Asp644Shift D644Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OVCH1 Arg1098Shift R1098Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT71 Gly53Shift G53Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59283842 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR10A7 Leu166Shift L166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACAD10 Arg1006Stop R1006X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SACS Arg3658Trp R3658W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - BRCA2 Ile1364Leu I1364L not reviewed Insufficiently evaluated not reviewed unknown Array rs56248502 70 10756 0.006508 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - DQ866763 Leu196Shift L196Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs12019773 2 70 0.0285714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC88C Gly1748Shift G1748Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HERC2P3 Arg1128Shift R1128Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57519220 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTUD7A Gln254Shift Q254Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Ser563Pro S563P not reviewed Insufficiently evaluated not reviewed unknown Array rs73380694 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - Y Y 3 - 3 N - - SPG11 Gln2387Del Q2387Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - NEDD4 Ile1004Shift I1004Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C1QTNF8 Leu95Shift L95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Trp48Shift W48Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 26 0.0769231 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC160930 Val59Shift V59Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 40 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Trp66Shift W66Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NUP88 Val239Shift V239Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WRAP53 Ser304Shift S304Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COX10 Arg228Cys R228C not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ADAMTS10 Leu808Arg L808R not reviewed Insufficiently evaluated not reviewed unknown Array rs10420313 320 10758 0.0297453 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.17 Y Y 6 Y 2 N - - ZNF382 Gln539Stop Q539X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF816 Pro340Shift P340Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF816 Gln220Stop Q220X not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NLRP2 Leu465Shift L465Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTOF Arg1250His R1250H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ABCG8 Cys385Tyr C385Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y - 6 Y 1 N - - NEB Arg5253Leu R5253L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CR596204 Glu38Shift E38Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTN Arg26766His R26766H not reviewed Insufficiently evaluated not reviewed unknown Array rs73036368 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Val23722Asp V23722D not reviewed Insufficiently evaluated not reviewed unknown Array rs73036377 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - RAPH1 Arg53Shift R53Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAX3 Lys175Asn K175N not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RBCK1 Trp101Shift W101Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FER1L4 Gln144Stop Q144X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRDM15 Cys292Shift C292Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UMODL1 Gln113Stop Q113X not reviewed Insufficiently evaluated not reviewed unknown Array 44 9832 0.00447518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AIRE Pro166Leu P166L not reviewed Insufficiently evaluated not reviewed unknown Array rs11910214 63 10450 0.00602871 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.18 Y - 7 Y 1 N - - MYH9 Ala1939Thr A1939T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SMCR7L Asn84Shift N84Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP2D6 Leu47Shift L47Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72549357 1 122 0.00819672 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM198A Lys537Shift K537Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FRMD4B Ala251Shift A251Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR87 Arg246Shift R246Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNMB3 Val256Shift V256Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DVL3 Arg462Shift R462Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AFAP1 Glu447Shift E447Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MTTP Gln569Shift Q569Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DDX60L Glu436Shift E436Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VCAN Ser2979Tyr S2979Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.941 Y Y 5 Y 4 N - - APC Glu1157Del E1157Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CCDC112 Glu423Shift E423Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POU4F3 Asp77Gly D77G not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 4 Y 3 N - - BOD1 Stop186Shift X186Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM193B Thr346Shift T346Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C6ORF195 Ser63Shift S63Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-H Gly243Glu G243E not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SYNE1 Thr3829Ala T3829A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 1 - 2 N - - COL1A2 Gly841GlyGly G841GG not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - SGCE Thr257Pro T257P not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - C8ORF48 Gln187Shift Q187Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - STAR Gly145Arg G145R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.841 Y - 6 Y 2 N - - GNE Asp239Glu D239E not reviewed Insufficiently evaluated not reviewed unknown Array rs35224402 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PALM2-AKAP2 Ser1016Shift S1016Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAN1B1 Gln579Shift Q579Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CSF2RA Asn261Shift N261Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 93 0.0107527 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZCCHC13 Lys4Shift K4Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SAMD11 Arg598Trp R598W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SAMD11 Leu632Phe L632F not reviewed Insufficiently evaluated not reviewed unknown Array 52 10754 0.00483541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 0 - 1 N - - KIAA1751 Leu222Arg L222R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.2 - - 6 Y 1 N - - AK001208 Gln87Arg Q87R not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK127994 Ser150Trp S150W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF86 Phe154Leu F154L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMEL1 Lys587Asn K587N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPHP4 Arg959Gln R959Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12084067 119 10698 0.0111236 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 0 - 3 N - - ESPN Pro350Ser P350S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 3 - 2 N - - MASP2 Arg99Gln R99Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735600 289 10758 0.0268637 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM2 Leu1611Gln L1611Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNAJC16 Ile14Met I14M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPEN Gly2294Arg G2294R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.464 - - 6 Y 1 N - - SH2D5 Gly328Del G328Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RCAN3 Arg131Trp R131W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - LDLRAP1 Thr218Met T218M not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - COL16A1 Ser482Leu S482L not reviewed Insufficiently evaluated not reviewed unknown Array rs34531794 30 9702 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC30 Ile658Met I658M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10612 0.00273275 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - IPO13 PheAsp256LeuAla FD256LA not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MOBKL2C Tyr83His Y83H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP4B1 Cys370Ser C370S not reviewed Insufficiently evaluated not reviewed unknown Array rs59694031 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBE2U Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array 116 10748 0.0107927 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - 8 Y 1 N - - IL12RB2 Met13Val M13V not reviewed Insufficiently evaluated not reviewed unknown Array rs17129772 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL12RB2 Met373Val M373V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - GSTM5 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.219 - - 1 - 1 N - - DDX20 Arg740Ser R740S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - WDR3 Leu483Val L483V not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM72B Ile122Val I122V not reviewed Insufficiently evaluated not reviewed unknown Array rs2788831 2 70 0.0285714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM72B Trp125Arg W125R not reviewed Insufficiently evaluated not reviewed unknown Array rs15815 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 7 Y 2 N - - ITGA10 Arg808Thr R808T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BOLA1 Ser81Arg S81R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.633 - - 3 - 1 N - - HRNR Ser1018Tyr S1018Y not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC27A3 Arg439His R439H not reviewed Insufficiently evaluated not reviewed unknown Array rs35102232 212 10756 0.0197099 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.172 - - 1 - 0 N - - CD1E Thr318Ser T318S not reviewed Insufficiently evaluated not reviewed unknown Array rs35079671 96 9578 0.010023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR10T2 Ile78Val I78V not reviewed Insufficiently evaluated not reviewed unknown Array rs6662597 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 0 N - - ARHGAP30 Ala1004Val A1004V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - XCL1 Asp28His D28H not reviewed Insufficiently evaluated not reviewed unknown Array rs56148248 217 10758 0.020171 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - XCL1 Lys29Arg K29R not reviewed Insufficiently evaluated not reviewed unknown Array rs61546281 128 10758 0.0118981 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.068 - - -3 - 0 N - - ANGPTL1 Pro267Leu P267L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - TOR1AIP2 Ser168Gly S168G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TOR1AIP2 Ala64Ser A64S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1614 Pro212Leu P212L not reviewed Insufficiently evaluated not reviewed unknown Array 16 9808 0.00163132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - LAD1 Arg461Gln R461Q not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPFIA4 Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array 15 4582 0.00327368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FMOD Thr64Ile T64I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPTC Arg167His R167H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - SLC45A3 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10602 0.00122618 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - BROX Pro54Thr P54T not reviewed Insufficiently evaluated not reviewed unknown Array rs73124896 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - TRIM67 Ala608Val A608V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10170 0.000196656 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.503 - - 2 - 1 N - - SDCCAG8 Arg365Lys R365K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR2M5 Ala237Asp A237D not reviewed Insufficiently evaluated not reviewed unknown Array rs41304157 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 5 Y 2 N - - OR2G6 Leu304Pro L304P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - PITRM1 Arg805Gln R805Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34837384 112 9528 0.0117548 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 1 N - - UPF2 Ser870Cys S870C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 3 - 0 N - - CUBN Val2990Ile V2990I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SYT15 Pro90Ser P90S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10510 0.00228354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - PPYR1 Arg256Gln R256Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 1 N - - ARHGAP22 Pro357Ser P357S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF58 Phe179Leu F179L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMRN2 Ser831Arg S831R not reviewed Insufficiently evaluated not reviewed unknown Array rs36073867 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - AL157440 Ala72Ser A72S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IFIT5 His398Tyr H398Y not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - -1 - 0 N - - KIF20B Asn1060Ile N1060I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYOF Gly680Ser G680S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9588 0.000104297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CC2D2B Lys146Glu K146E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - MRPL43 Leu100Val L100V not reviewed Insufficiently evaluated not reviewed unknown Array rs62626267 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPRIP Ala412Glu A412E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - C10ORF90 Ser560Cys S560C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR123 Ala231Asp A231D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PHRF1 Glu1231Ala E1231A not reviewed Insufficiently evaluated not reviewed unknown Array rs7116027 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - LRDD Ser527Ile S527I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10738 0.00353883 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.986 - - 5 Y 2 N - - MUC2 ProThr1410ThrThrThrProIleThrProProAla PT1410TTTPITPPA not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC5AC Arg1316Trp R1316W not reviewed Insufficiently evaluated not reviewed unknown Array 40 10516 0.00380373 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF36 Ala125Thr A125T not reviewed Insufficiently evaluated not reviewed unknown Array rs73412349 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRNA10 Val350Met V350M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 0 - 1 N - - GVINP1 Asp1602Asn D1602N not reviewed Insufficiently evaluated not reviewed unknown Array rs73399280 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LMO1 Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 2 - 1 N - - LYVE1 Gly70Ser G70S not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRVI1 Gln352His Q352H not reviewed Insufficiently evaluated not reviewed unknown Array rs34398944 119 9562 0.0124451 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CKAP5 Pro1439Thr P1439T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR4C3 Ala261Val A261V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5W2 Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - OR8J1 Met59Thr M59T not reviewed Insufficiently evaluated not reviewed unknown Array rs62001035 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - OR5B3 Met266Thr M266T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - ZFP91 Pro92Ser P92S not reviewed Insufficiently evaluated not reviewed unknown Array 90 8544 0.0105337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - FAM111B Gly218Asp G218D not reviewed Insufficiently evaluated not reviewed unknown Array rs1060428 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - OR5AN1 Thr247Lys T247K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - OR4D10 Ile194Thr I194T not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF66 Arg310Gln R310Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPLP0P2 Lys146Arg K146R not reviewed Insufficiently evaluated not reviewed unknown Array rs73481378 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RPLP0P2 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BATF2 Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - EHBP1L1 Val838Ile V838I not reviewed Insufficiently evaluated not reviewed unknown Array 10 9594 0.00104232 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - CFL1 Arg148Trp R148W not reviewed Insufficiently evaluated not reviewed unknown Array rs36052446 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C11ORF68 Glu187Val E187V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MRPL21 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 157 10714 0.0146537 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP5-9 Ser95Cys S95C not reviewed Insufficiently evaluated not reviewed unknown Array 247 10758 0.0229597 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPL48 Thr15Ile T15I not reviewed Insufficiently evaluated not reviewed unknown Array 8 9610 0.000832466 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - BX647206 Ala303Thr A303T not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WNT11 Ala121Thr A121T not reviewed Insufficiently evaluated not reviewed unknown Array rs1132737 68 10324 0.00658659 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - KIAA1731 Cys614Gly C614G not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - MRE11A Asp41Asn D41N not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - MMP1 Thr122Met T122M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - AK126420 Leu101Val L101V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS13 Gly102Ser G102S not reviewed Insufficiently evaluated not reviewed unknown Array 355 10354 0.0342863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCN2B Thr193Ile T193I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - C2CD2L Lys526Arg K526R not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -3 - 0 N - - GRIK4 His403Arg H403R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCNN1A Leu343Met L343M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - -3 - 3 N - - ACRBP Arg427His R427H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - CD4 Phe227Ser F227S not reviewed Insufficiently evaluated not reviewed unknown Array rs11064419 230 10758 0.0213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CD163 Ser1124Asn S1124N not reviewed Insufficiently evaluated not reviewed unknown Array 42 10754 0.00390552 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD163 Asn642Lys N642K not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - 1 - 0 N - - CSDA Arg292His R292H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS20 Val308Gly V308G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VDR Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.922 Y - 0 - 3 N - - MLL2 ArgProGluGluProHisLeuSerPro755Del RPEEPHLSP755Del not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT8 Tyr54His Y54H not reviewed Insufficiently evaluated not reviewed unknown Array rs57749775 58 10608 0.00546757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - -1 - 1 N - - CSAD Leu7His L7H not reviewed Insufficiently evaluated not reviewed unknown Array rs73309146 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.09 - - 6 Y 0 N - - OR10A7 Leu53Pro L53P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR10A7 Leu66Val L66V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - OR10A7 Phe106Leu F106L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 1 N - - OR10A7 Met164Ile M164I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - -1 - 2 N - - OR10A7 Gly291Ser G291S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SILV Thr447Met T447M not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - Y 2 - 3 N - - NACA Gly201Asp G201D not reviewed Insufficiently evaluated not reviewed unknown Array 7 7820 0.00089514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZBTB39 Ala706Val A706V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 2 - 0 N - - MYO1A Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 0 - 2 N - - RASSF9 Lys353Gln K353Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 9590 0.00344108 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.167 - - -2 - 0 N - - HSP90B1 Asp629Ala D629A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.654 - - 5 Y 1 N - - DAO Ala36Val A36V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - MYO1H Val276Leu V276L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - DDX51 Pro309Ser P309S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - PABPC3 Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MTMR6 Arg151Gln R151Q not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.823 - - 0 - 1 N - - SHISA2 Ala191Thr A191T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.172 - - 1 - 0 N - - MTUS2 Thr894Ile T894I not reviewed Insufficiently evaluated not reviewed unknown Array rs3751336 269 9670 0.027818 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WBP4 Tyr321Cys Y321C not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZC3H13 Thr1113Ala T1113A not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PROZ Leu291Phe L291F not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.081 - - 0 - 0 N - - DQ866763 Leu199Phe L199F not reviewed Insufficiently evaluated not reviewed unknown Array 2 74 0.027027 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4M1 Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - OR4M1 Arg262His R262H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 1 - 0 N - - RNASE8 Gly101Arg G101R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ARHGEF40 Pro1188His P1188H not reviewed Insufficiently evaluated not reviewed unknown Array rs61734998 97 10758 0.00901654 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.94 - - 5 Y 2 N - - AKAP6 Glu2267Asp E2267D not reviewed Insufficiently evaluated not reviewed unknown Array rs35977369 183 10758 0.0170106 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - NKX2-8 Ala94Thr A94T not reviewed Insufficiently evaluated not reviewed unknown Array rs10135525 40 10608 0.00377074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLEC14A Tyr192Phe Y192F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10732 0.000931792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - C14ORF28 Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10756 0.00381183 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDHD1 Asn1067His N1067H not reviewed Insufficiently evaluated not reviewed unknown Array 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - C14ORF50 ThrAsp83IleHis TD83IH not reviewed Insufficiently evaluated not reviewed unknown Array rs6573560 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM181A Gly41Glu G41E not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.824 - - 6 Y 1 N - - OTUB2 Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DDX24 Ile313Thr I313T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DICER1 Asp609Tyr D609Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DLK1 Asp380His D380H not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR619482 Gln181His Q181H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR619482 Thr14Asn T14N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OTUD7A Thr255Lys T255K not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 3 - 2 N - - RYR3 Val1774Met V1774M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10254 9.7522e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - EIF2AK4 Lys1336Arg K1336R not reviewed Insufficiently evaluated not reviewed unknown Array rs35480871 54 9884 0.00546337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CASC5 Leu2104Trp L2104W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STARD9 Asp1357Glu D1357E not reviewed Insufficiently evaluated not reviewed unknown Array rs74009205 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STARD9 Pro1581Ala P1581A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STARD9 Pro2065His P2065H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TGM7 Met229Thr M229T not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TP53BP1 Thr548Ala T548A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - FRMD5 Ser465Ile S465I not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 5 Y 0 N - - DUOXA1 Arg133Cys R133C not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - DMXL2 Asp2484Gly D2484G not reviewed Insufficiently evaluated not reviewed unknown Array 105 10742 0.00977472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 4 Y 0 N - - SNX22 Ser152Ala S152A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.811 - - -1 - 1 N - - PIF1 Asp626Asn D626N not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - UACA Asp1046Gly D1046G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCAPER Asn1096Ser N1096S not reviewed Insufficiently evaluated not reviewed unknown Array rs73450253 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTSL3 Leu1382His L1382H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 6 Y 2 N - - AKAP13 Glu1625Asp E1625D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C15ORF42 Val803Ile V803I not reviewed Insufficiently evaluated not reviewed unknown Array 37 9790 0.00377937 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR93 Ala80Thr A80T not reviewed Insufficiently evaluated not reviewed unknown Array rs28727970 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - MAN2A2 Arg638Cys R638C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PDIA2 Pro39Ser P39S not reviewed Insufficiently evaluated not reviewed unknown Array rs45455191 93 9992 0.00930745 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - PRR25 Gly299Glu G299E not reviewed Insufficiently evaluated not reviewed unknown Array rs73493265 3 116 0.0258621 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LMF1 Arg360Gln R360Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35168378 316 10482 0.0301469 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1H Arg537His R537H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - IGFALS Pro498Ser P498S not reviewed Insufficiently evaluated not reviewed unknown Array rs9282730 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 3 - 0 N - - ZNF597 Lys182Glu K182E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.783 - - 0 - 1 N - - AK311524 Leu158Val L158V not reviewed Insufficiently evaluated not reviewed unknown Array rs73489662 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC148245 Phe24Val F24V not reviewed Insufficiently evaluated not reviewed unknown Array rs73513279 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDXDC1 Met448Thr M448T not reviewed Insufficiently evaluated not reviewed unknown Array 152 10636 0.0142911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.249 - - 2 - 1 N - - DNAH3 Lys3250Arg K3250R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -3 - 0 N - - DNAH3 Ser1399Phe S1399F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 5 Y 2 N - - VWA3A His828Leu H828L not reviewed Insufficiently evaluated not reviewed unknown Array rs8062281 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MVP Ser242Pro S242P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDIPT Ser137Leu S137L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 6 Y 2 N - - ARMC5 Gly798Ala G798A not reviewed Insufficiently evaluated not reviewed unknown Array 71 10170 0.00698132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - AARS Phe722Leu F722L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - 0 - 1 N - - FAM38A Asp1929Asn D1929N not reviewed Insufficiently evaluated not reviewed unknown Array rs58548913 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC139719 Leu133Cys L133C not reviewed Insufficiently evaluated not reviewed unknown Array rs8055740 2 30 0.0666667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - OR1E2 SerPro146ThrSer SP146TS not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYBBP1A Val250Met V250M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - XAF1 Asn77Ser N77S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731569 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 0 - 0 N - - PHF23 Glu54Val E54V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 1 N - - CD68 Ile329Thr I329T not reviewed Insufficiently evaluated not reviewed unknown Array rs35452170 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - 3 - 1 N - - C17ORF68 Asp718Glu D718E not reviewed Insufficiently evaluated not reviewed unknown Array rs62637610 93 10030 0.00927218 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM220 Thr154Ser T154S not reviewed Insufficiently evaluated not reviewed unknown Array 167 10756 0.0155262 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - MEIS3P1 Ser94Arg S94R not reviewed Insufficiently evaluated not reviewed unknown Array rs60097079 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.338 - - 3 - 1 N - - MYO15A His1171Asn H1171N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SLC5A10 Phe268Ser F268S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - EFCAB5 Gln481Glu Q481E not reviewed Insufficiently evaluated not reviewed unknown Array 66 9706 0.00679992 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.72 - - -2 - 1 N - - EFCAB5 Val1252Ala V1252A not reviewed Insufficiently evaluated not reviewed unknown Array rs4499292 36 9626 0.00373987 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CCDC55 Arg440Gly R440G not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 6 Y 1 N - - GHDC Arg469His R469H not reviewed Insufficiently evaluated not reviewed unknown Array 340 10690 0.0318054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - BC043620 Arg129Trp R129W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSD17B1 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.43 - - 0 - 1 N - - COASY Val83Phe V83F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 3 - 2 N - - SH3D20 Glu214Arg E214R not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_175882 Gly202Ser G202S not reviewed Insufficiently evaluated not reviewed unknown Array rs73313143 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - MYCBPAP Arg259Cys R259C not reviewed Insufficiently evaluated not reviewed unknown Array rs73334009 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.476 - - 8 Y 1 N - - TOM1L1 Pro377Leu P377L not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKFN1 Ser226Asn S226N not reviewed Insufficiently evaluated not reviewed unknown Array 186 10758 0.0172895 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CSH1 Leu203Pro L203P not reviewed Insufficiently evaluated not reviewed unknown Array rs61764002 3 120 0.025 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001101393 Gly13Ala G13A not reviewed Insufficiently evaluated not reviewed unknown Array rs73329573 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KPNA2 Val506Ile V506I not reviewed Insufficiently evaluated not reviewed unknown Array 77 10750 0.00716279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ABCA8 Phe419Ser F419S not reviewed Insufficiently evaluated not reviewed unknown Array 99 10754 0.00920588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - LLGL2 Gln544His Q544H not reviewed Insufficiently evaluated not reviewed unknown Array 213 10756 0.0198029 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EVPL TyrLys1520Gln YK1520Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AL832652 Val258Glu V258E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AL832652 Val108Ile V108I not reviewed Insufficiently evaluated not reviewed unknown Array rs36082924 49 10752 0.00455729 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ENPP7 Val83Ile V83I not reviewed Insufficiently evaluated not reviewed unknown Array 275 10758 0.0255624 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - CCDC40 Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array rs61998241 191 10206 0.0187145 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - CCDC40 Arg321Gln R321Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 0 - 2 N - - RNF213 Gln965Arg Q965R not reviewed Insufficiently evaluated not reviewed unknown Array 61 3234 0.0188621 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_173627 Asp201Asn D201N not reviewed Insufficiently evaluated not reviewed unknown Array rs35929621 173 10270 0.0168452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - AATK His677Tyr H677Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61738829 70 9700 0.00721649 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - BAHCC1 Pro2187Leu P2187L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9660 0.000103519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FASN Ala860Val A860V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10704 0.000373692 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOL4 Ala505Thr A505T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOXHD1 Asp398Gly D398G not reviewed Insufficiently evaluated not reviewed unknown Array rs16978578 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CCDC68 Glu201Lys E201K not reviewed Insufficiently evaluated not reviewed unknown Array 62 10756 0.00576422 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - DSEL Val608Leu V608L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MBP Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHAF1A Arg763Gln R763Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Ala1107Val A1107V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10590 0.000472143 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 2 - 0 N - - PLIN4 Thr809Ile T809I not reviewed Insufficiently evaluated not reviewed unknown Array rs7255298 32 10380 0.00308285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 3 - 0 N - - PLIN4 Thr416Ala T416A not reviewed Insufficiently evaluated not reviewed unknown Array rs73920830 37 9958 0.00371561 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - LRG1 Pro234Leu P234L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - FBN3 Ile1812Val I1812V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC16 Thr7348Ala T7348A not reviewed Insufficiently evaluated not reviewed unknown Array 130 10050 0.0129353 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC127752 Ala161Pro A161P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF69 Val116Ala V116A not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF700 Leu321Val L321V not reviewed Insufficiently evaluated not reviewed unknown Array rs17001730 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF763 Val212Phe V212F not reviewed Insufficiently evaluated not reviewed unknown Array rs7253997 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF788 Arg407His R407H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.833 - - 1 - 1 N - - CYP4F3 Cys89Tyr C89Y not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 6 Y 0 N - - CPAMD8 Ile870Val I870V not reviewed Insufficiently evaluated not reviewed unknown Array rs61741636 66 10150 0.00650246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DDA1 Arg30Gln R30Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.526 - - 0 - 1 N - - SLC27A1 Pro79Ser P79S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10542 0.0016126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 3 - 0 N - - ZNF737 Thr448Ser T448S not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 1 N - - ZNF737 Arg445Ile R445I not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF85 Thr303Asn T303N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF429 Glu596Lys E596K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF429 Glu597Gln E597Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF429 Gly599Asp G599D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF429 AsnArg603ThrHis NR603TH not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF675 Thr307Ile T307I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - 3 - 1 N - - WDR88 Glu416Lys E416K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 0 - 1 N - - GPR42P ArgCys44GlnArg RC44QR not reviewed Insufficiently evaluated not reviewed unknown Array rs382771 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF585B Ile259Met I259M not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HKR1 Ser548Thr S548T not reviewed Insufficiently evaluated not reviewed unknown Array rs61742682 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RINL Pro257Arg P257R not reviewed Insufficiently evaluated not reviewed unknown Array 2 5162 0.000387446 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - FCGBP Ala1700Val A1700V not reviewed Insufficiently evaluated not reviewed unknown Array 78 5930 0.0131535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SERTAD1 Arg8Trp R8W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - BC034980 Gly203Ser G203S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GIPR Arg101His R101H not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - CCDC114 Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array rs73585360 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRRG2 Ser154Asn S154N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - ZNF83 Leu472Arg L472R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF816 Cys287Tyr C287Y not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NLRP12 Arg859Gln R859Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - LILRB4 Lys362Pro K362P not reviewed Insufficiently evaluated not reviewed unknown Array rs2764337 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF582 Val300Leu V300L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - CMPK2 Glu448Gly E448G not reviewed Insufficiently evaluated not reviewed unknown Array 100 9802 0.010202 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - CR624999 Val51Ala V51A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHH2 Pro481Ile P481I not reviewed Insufficiently evaluated not reviewed unknown Array rs17031297 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYNC2LI1 Met164Thr M164T not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.248 - - 2 - 1 N - - APLF Ile298Val I298V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TXNDC9 Ala5Thr A5T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FHL2 Glu12Gly E12G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RANBP2 His1154Leu H1154L not reviewed Insufficiently evaluated not reviewed unknown Array 38 10756 0.00353291 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - 6 Y 2 N - - NT5DC4 Asp170Gly D170G not reviewed Insufficiently evaluated not reviewed unknown Array rs61214343 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.759 - - 4 Y 1 N - - NCKAP5 Arg1807Cys R1807C not reviewed Insufficiently evaluated not reviewed unknown Array 230 9872 0.0232982 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - NCKAP5 Asp1675Asn D1675N not reviewed Insufficiently evaluated not reviewed unknown Array rs72989577 95 9748 0.00974559 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - ORC4 Leu202Val L202V not reviewed Insufficiently evaluated not reviewed unknown Array rs73003466 32 10734 0.00298118 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.909 - - 0 - 2 N - - NR4A2 Ser366Gly S366G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.256 - Y 2 - 2 N - - PHOSPHO2 Leu157Phe L157F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - MYO3B Arg1165Cys R1165C not reviewed Insufficiently evaluated not reviewed unknown Array rs56052422 125 9800 0.0127551 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.116 - - 8 Y 0 N - - HOXD1 Ala96Pro A96P not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SGOL2 Ala1006Val A1006V not reviewed Insufficiently evaluated not reviewed unknown Array 34 9530 0.00356768 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARD3B Pro638Ala P638A not reviewed Insufficiently evaluated not reviewed unknown Array 18 9904 0.00181745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRP2 Ile869Val I869V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - CCDC108 Arg760Gln R760Q not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.822 - - 0 - 1 N - - IHH His252Arg H252R not reviewed Insufficiently evaluated not reviewed unknown Array 217 10758 0.020171 3 0 3 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - SP140L Asn231Ser N231S not reviewed Insufficiently evaluated not reviewed unknown Array 113 9744 0.0115969 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - XRN2 Asn385Ser N385S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - NINL Glu1261Lys E1261K not reviewed Insufficiently evaluated not reviewed unknown Array 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - AHCY Arg329Gln R329Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP250 Arg985Gln R985Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CEP250 Gln1072Glu Q1072E not reviewed Insufficiently evaluated not reviewed unknown Array rs17092706 115 10758 0.0106897 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - FER1L4 Val296Leu V296L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FER1L4 Gln259Arg Q259R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FER1L4 Met225Thr M225T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FER1L4 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742206 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FER1L4 Arg383Trp R383W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FER1L4 Arg361Gln R361Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZFP64 Pro552Thr P552T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10756 0.0052064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - CASS4 Arg491Lys R491K not reviewed Insufficiently evaluated not reviewed unknown Array rs16979936 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -3 - 0 N - - OSBPL2 Ala26Thr A26T not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIDO1 Gly493Arg G493R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYNJ1 Thr1558Met T1558M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 2 - 2 N - - SYNJ1 Ala1411Val A1411V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - SYNJ1 Ile1379Val I1379V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSCAM Ile947Val I947V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - PLAC4 His145Leu H145L not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMPRSS3 Val437Ile V437I not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - RSPH1 Ala244Thr A244T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RTDR1 Glu144Gly E144G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C22ORF36 Glu308Lys E308K not reviewed Insufficiently evaluated not reviewed unknown Array 179 9858 0.0181578 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMK2 Glu218Lys E218K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - GALR3 Ser14Arg S14R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 3 - 1 N - - MICALL1 Ala78Thr A78T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHADL SerGly628ArgSer SG628RS not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNPLA3 Val227Ile V227I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -4 - 0 N - - PRR5-ARHGAP8 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UPK3A Ser87Glu S87E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK311646 Leu7Val L7V not reviewed Insufficiently evaluated not reviewed unknown Array rs73106063 34 10734 0.0031675 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBLN2 Arg349His R349H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753439 168 10462 0.0160581 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFHB Arg736His R736H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF48 Phe123Leu F123L not reviewed Insufficiently evaluated not reviewed unknown Array rs7652446 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DYNC1LI1 Pro424Ser P424S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 3 - 0 N - - SLC22A13 Ala77Val A77V not reviewed Insufficiently evaluated not reviewed unknown Array rs35346548 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - TRAK1 Glu184Lys E184K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - ZNF662 Thr292Met T292M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.219 - - 2 - 1 N - - FAM198A Ala179Pro A179P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRSS42 Ser49Thr S49T not reviewed Insufficiently evaluated not reviewed unknown Array rs72893387 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.076 - - -2 - 0 N - - NBEAL2 Val683Ile V683I not reviewed Insufficiently evaluated not reviewed unknown Array rs72909834 15 10262 0.0014617 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - CACNA2D3 Ala774Thr A774T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - AK056866 Gly65Ala G65A not reviewed Insufficiently evaluated not reviewed unknown Array rs72905055 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF64 Lys188Leu K188L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF64 Arg41Leu R41L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNTN3 Pro1011Ser P1011S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Cys397Gly C397G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA2018 Gln659Glu Q659E not reviewed Insufficiently evaluated not reviewed unknown Array 21 9710 0.00216272 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - -2 - 2 N - - C3ORF15 Arg318Gln R318Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742290 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLQ Asn1433Ser N1433S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALG1L Val85Ala V85A not reviewed Insufficiently evaluated not reviewed unknown Array 45 6430 0.00699844 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - 2 - 0 N - - ALG1L Ser65Phe S65F not reviewed Insufficiently evaluated not reviewed unknown Array 57 6416 0.00888404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 5 Y 2 N - - COL6A5 Asp2175Asn D2175N not reviewed Insufficiently evaluated not reviewed unknown Array rs60021408 10 9628 0.00103864 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ESYT3 Asp639His D639H not reviewed Insufficiently evaluated not reviewed unknown Array rs72976634 44 10266 0.00428599 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - NMNAT3 Pro71Leu P71L not reviewed Insufficiently evaluated not reviewed unknown Array rs61746869 48 10758 0.0044618 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLOD2 Tyr547His Y547H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10730 0.00205033 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TM4SF4 Leu142Phe L142F not reviewed Insufficiently evaluated not reviewed unknown Array 118 9800 0.0120408 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 0 - 0 N - - FAM194A Asn461Lys N461K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 1 - 2 N - - ZBBX Thr234Met T234M not reviewed Insufficiently evaluated not reviewed unknown Array 116 9574 0.0121161 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRRC34 Leu121His L121H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.469 - - 6 Y 1 N - - SAMD7 Gly178Arg G178R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - 6 Y 0 N - - NAALADL2 Leu82Phe L82F not reviewed Insufficiently evaluated not reviewed unknown Array 12 9690 0.00123839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - PPP1R2 Thr185Met T185M not reviewed Insufficiently evaluated not reviewed unknown Array rs35626050 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - C4ORF42 Ala184Pro A184P not reviewed Insufficiently evaluated not reviewed unknown Array 81 10754 0.00753208 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOP14 Ser782Cys S782C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - PSAPL1 Leu203Ser L203S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741341 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PSAPL1 Ala58Thr A58T not reviewed Insufficiently evaluated not reviewed unknown Array rs56737582 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSAPL1 Gly43Arg G43R not reviewed Insufficiently evaluated not reviewed unknown Array rs58482081 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR1 Tyr214His Y214H not reviewed Insufficiently evaluated not reviewed unknown Array 4 9930 0.000402819 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - -1 - 1 N - - SLIT2 Thr1525Met T1525M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.627 - - 2 - 1 N - - TLR10 Asn127Ser N127S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - BEND4 Ser519Cys S519C not reviewed Insufficiently evaluated not reviewed unknown Array 102 9620 0.0106029 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATP8A1 Ala552Thr A552T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1211 Ala385Leu A385L not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LPHN3 Glu496Lys E496K not reviewed Insufficiently evaluated not reviewed unknown Array 5 9808 0.000509787 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.281 - - 0 - 1 N - - UGT2B10 Ala30Thr A30T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10752 0.00809152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SDAD1 Arg601Cys R601C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.534 - - 8 Y 1 N - - MRPL1 Glu81Lys E81K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - BMP3 Arg74Trp R74W not reviewed Insufficiently evaluated not reviewed unknown Array rs61729824 139 10750 0.0129302 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - SPARCL1 Ile305Met I305M not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IBSP His48Tyr H48Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 10730 0.00121156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - PDLIM5 Ser119Cys S119C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALPK1 Pro293Gln P293Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SYNPO2 Val887Met V887M not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - KIAA1109 Val784Leu V784L not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - FAT4 His3808Arg H3808R not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 1 - 2 N - - INTU Pro445His P445H not reviewed Insufficiently evaluated not reviewed unknown Array rs35354253 71 10756 0.00660097 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - PLK4 Thr828Met T828M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735390 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LARP1B His504Tyr H504Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35810613 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - PCDH10 Ala496Asp A496D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 5 Y 2 N - - C4ORF49 Ile133Val I133V not reviewed Insufficiently evaluated not reviewed unknown Array rs35809233 79 10222 0.00772843 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRBA Met704Ile M704I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAM29 Ser813Gly S813G not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM149A Arg397His R397H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC9A3 Ser577Phe S577F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 5 Y 1 N - - ADAMTS16 Gln1167Pro Q1167P not reviewed Insufficiently evaluated not reviewed unknown Array 90 10108 0.00890384 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.826 - - 4 Y 1 N - - PRDM9 Leu791Val L791V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10730 0.00260951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6 Asp696Asn D696N not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -1 - 2 N - - IL31RA Glu650Lys E650K not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCNT4 Ile153Val I153V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -4 - 0 N - - CMYA5 Ser3473Gly S3473G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MBLAC2 Val209Ala V209A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - AK130941 Ala130Thr A130T not reviewed Insufficiently evaluated not reviewed unknown Array rs73142965 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPIP5K2 Pro933Thr P933T not reviewed Insufficiently evaluated not reviewed unknown Array rs73199725 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FER Ile350Thr I350T not reviewed Insufficiently evaluated not reviewed unknown Array 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - CCDC112 Glu423Asp E423D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_173800 Met264Val M264V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMXL1 Glu906Lys E906K not reviewed Insufficiently evaluated not reviewed unknown Array 70 10748 0.00651284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF474 Ile67Met I67M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - CATSPER3 Cys39Tyr C39Y not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - 6 Y 2 N - - FAM13B Arg688His R688H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.717 - - 1 - 1 N - - CDC25C Ser78Asn S78N not reviewed Insufficiently evaluated not reviewed unknown Array rs11567962 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 0 - 2 N - - PPARGC1B Val703Phe V703F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAT2 Pro1220His P1220H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - PPP1R2P3 Leu152Pro L152P not reviewed Insufficiently evaluated not reviewed unknown Array rs61743227 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - 7 Y 2 N - - GRK6 Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230881 67 10754 0.00623024 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - BC040901 Gly76Ser G76S not reviewed Insufficiently evaluated not reviewed unknown Array rs73335958 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF201 Asp25Tyr D25Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9503910 296 9814 0.030161 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RREB1 Glu967Lys E967K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYCP2L Thr636Ala T636A not reviewed Insufficiently evaluated not reviewed unknown Array 12 9580 0.00125261 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - HIVEP1 Ser1878Leu S1878L not reviewed Insufficiently evaluated not reviewed unknown Array 64 9594 0.00667083 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CD83 Arg182Gln R182Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230193 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 0 - 0 N - - LRRC16A Asp1105Asn D1105N not reviewed Insufficiently evaluated not reviewed unknown Array 72 9828 0.00732601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCGN Ala216Val A216V not reviewed Insufficiently evaluated not reviewed unknown Array rs6942245 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.938 - - 2 - 2 N - - TRIM38 Glu90Gly E90G not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 6 Y 0 N - - OR12D2 Ser85Pro S85P not reviewed Insufficiently evaluated not reviewed unknown Array rs36210742 57 7520 0.00757979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNRD1 Arg89Gly R89G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.63 - - 6 Y 1 N - - TRIM39 Val321Phe V321F not reviewed Insufficiently evaluated not reviewed unknown Array 18 7520 0.00239362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C4B Leu1210Arg L1210R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229409 2 106 0.0188679 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK309797 Cys41Arg C41R not reviewed Insufficiently evaluated not reviewed unknown Array rs73409619 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRERF1 Pro556Arg P556R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 5 Y 2 N - - TRERF1 Val69Ile V69I not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ABCC10 Asn559Ser N559S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - C6ORF142 Val146Ala V146A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MMS22L Ile620Val I620V not reviewed Insufficiently evaluated not reviewed unknown Array rs73494464 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - USP45 Phe349Cys F349C not reviewed Insufficiently evaluated not reviewed unknown Array rs61761590 98 10754 0.00911289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - SLC22A16 Val431Ile V431I not reviewed Insufficiently evaluated not reviewed unknown Array rs35948062 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - LAMA2 Arg2475Ser R2475S not reviewed Insufficiently evaluated not reviewed unknown Array rs34367843 126 10756 0.0117144 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - BC032958 Pro11Thr P11T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH8A1 Asn5Ser N5S not reviewed Insufficiently evaluated not reviewed unknown Array rs56954234 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE7B His217Gln H217Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - NHSL1 Pro1379Ala P1379A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF103 Val1495Leu V1495L not reviewed Insufficiently evaluated not reviewed unknown Array 29 3234 0.00896722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC047626 Phe46Ser F46S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF97 Arg393Lys R393K not reviewed Insufficiently evaluated not reviewed unknown Array 77 9706 0.00793324 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CNKSR3 Pro349Leu P349L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FNDC1 Ser1059Thr S1059T not reviewed Insufficiently evaluated not reviewed unknown Array 73 9364 0.00779581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - -2 - 0 N - - NM_001129895 Asn142Ser N142S not reviewed Insufficiently evaluated not reviewed unknown Array rs34745244 662 3232 0.204827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM195 Ile200Phe I200F not reviewed Insufficiently evaluated not reviewed unknown Array 43 10724 0.0040097 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - 2 - 1 N - - BC087859 Met232Ile M232I not reviewed Insufficiently evaluated not reviewed unknown Array rs73295176 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBX20 Pro75Leu P75L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001128060 Gly174Ser G174S not reviewed Insufficiently evaluated not reviewed unknown Array rs6964678 4 122 0.0327869 5 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF36 Pro13Ser P13S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NACAD Ala913Val A913V not reviewed Insufficiently evaluated not reviewed unknown Array rs58222681 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNS3 Ile1132Phe I1132F not reviewed Insufficiently evaluated not reviewed unknown Array 26 9946 0.00261412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - POM121L12 Leu12Ile L12I not reviewed Insufficiently evaluated not reviewed unknown Array 19 9986 0.00190266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EGFR Glu519Asp E519D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - -2 - 1 N - - LMTK2 Ile635Met I635M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - -1 - 1 N - - ACHE Thr42Met T42M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10706 0.000560433 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC17 Thr1241Pro T1241P not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Thr1246Tyr T1246Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4729651 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC17 Arg1698Ser R1698S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Pro1701Leu P1701L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC17 Asn1836Ser N1836S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Asn2077Ala N2077A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Ala2085Thr A2085T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DPY19L2P2 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array rs73412158 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRCAM Pro453Ala P453A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.467 - - 2 - 1 N - - SLC13A1 Ile244Val I244V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -4 - 0 N - - GPR37 Gly228Val G228V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - PRRT4 Ser43Thr S43T not reviewed Insufficiently evaluated not reviewed unknown Array rs73458956 15 3234 0.00463822 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - COPG2 Ser354Leu S354L not reviewed Insufficiently evaluated not reviewed unknown Array 24 9720 0.00246913 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CALD1 Pro764Leu P764L not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NM_001089590 His68Arg H68R not reviewed Insufficiently evaluated not reviewed unknown Array rs73721667 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001001317 Ala42Thr A42T not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_001296 Ser34Tyr S34Y not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 5 Y 2 N - - FBXO25 His322Asp H322D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - EFHA2 Leu226Ile L226I not reviewed Insufficiently evaluated not reviewed unknown Array 4 9606 0.000416406 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - SLC18A1 Ala101Pro A101P not reviewed Insufficiently evaluated not reviewed unknown Array rs17222218 285 10758 0.0264919 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HR Arg857His R857H not reviewed Insufficiently evaluated not reviewed unknown Array 85 8202 0.0103633 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.003 - - 1 - 0 N - - SORBS3 Gln162His Q162H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK308605 Met45Ile M45I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10754 0.00120885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDCA2 Gly650Asp G650D not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXTL3 Val442Leu V442L not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DQ578159 Arg77Cys R77C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TEX15 Glu2050Lys E2050K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743684 65 10752 0.00604539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEX15 Glu1306Asp E1306D not reviewed Insufficiently evaluated not reviewed unknown Array rs61736162 68 10754 0.00632323 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WHSC1L1 Val1175Ile V1175I not reviewed Insufficiently evaluated not reviewed unknown Array 28 9536 0.00293624 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - AJ005372 Cys189Tyr C189Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAM2 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PXDNL Ile65Asn I65N not reviewed Insufficiently evaluated not reviewed unknown Array 26 9466 0.00274667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - ASPH Arg354Met R354M not reviewed Insufficiently evaluated not reviewed unknown Array rs6995412 30 10752 0.00279018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 4 Y 1 N - - C8ORF45 Ala526Gly A526G not reviewed Insufficiently evaluated not reviewed unknown Array rs35595089 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSPP1 Arg311Cys R311C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KCNB2 Glu657Gly E657G not reviewed Insufficiently evaluated not reviewed unknown Array rs16938507 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC6 Arg11Trp R11W not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - EPPK1 Arg1921Leu R1921L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPAA1 Val124Ala V124A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10288 0.00359642 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - KIAA2026 Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 2 - 1 N - - BAG1 Glu91Del E91Del not reviewed Insufficiently evaluated not reviewed unknown Array rs60992409 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GADD45G Gly112Ser G112S not reviewed Insufficiently evaluated not reviewed unknown Array rs3138505 129 10746 0.0120045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF462 Pro1438Leu P1438L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TXNDC8 Ala18Val A18V not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.436 - - 2 - 1 N - - ZNF483 Arg109Gly R109G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC46A2 Ala366Val A366V not reviewed Insufficiently evaluated not reviewed unknown Array rs16917454 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DAB2IP Ala788Thr A788T not reviewed Insufficiently evaluated not reviewed unknown Array rs34458419 212 10322 0.0205387 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AL834139 Cys168Tyr C168Y not reviewed Insufficiently evaluated not reviewed unknown Array rs56681410 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEC16A His1375Gln H1375Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10504 0.00447448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C9ORF139 Gly60Ser G60S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10640 0.00169173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GTPBP6 His130Tyr H130Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10690 0.00168382 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASMT Lys81Glu K81E not reviewed Insufficiently evaluated not reviewed unknown Array 46 10750 0.00427907 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 0 - 0 N - - BC042039 Ile40Phe I40F not reviewed Insufficiently evaluated not reviewed unknown Array rs73582370 1 92 0.0108696 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEC1 Pro239Ala P239A not reviewed Insufficiently evaluated not reviewed unknown Array rs176040 1 35 0.0285714 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAGEC1 Ser240Ala S240A not reviewed Insufficiently evaluated not reviewed unknown Array 35 8693 0.00402623 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC9A1 Gly799Shift G799Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FRRS1 Asp510Shift D510Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DENND4B Leu102Shift L102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR52N5 Gly72Shift G72Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - METTL12 Arg40Shift R40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CKAP2 Ser225Shift S225Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTC5 Tyr84Shift Y84Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AF452719 Arg210Shift R210Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CWC25 Glu175Shift E175Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT17 Arg30Pro R30P not reviewed Insufficiently evaluated not reviewed unknown Array rs2229512 13 10360 0.00125483 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.342 Y Y 5 Y 3 N - - LSM7 Leu43Shift L43Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PTPRT Pro735Shift P735Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLAC4 Stop151Shift X151Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NHEDC2 Leu344Shift L344Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DMXL1 Asp2092Shift D2092Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-G Leu154Shift L154Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs41557518 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HPVC1 Val87Shift V87Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEMA3C Ala527Shift A527Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LETM2 Ile79Shift I79Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTPA Ile171Thr I171T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.884 Y Y 3 - 4 N - - RBMX Pro301Shift P301Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 69 0.0144928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAJC11 Thr99Ser T99S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - KIAA0754 Glu1194Lys E1194K not reviewed Insufficiently evaluated not reviewed unknown Array rs587523 416 9918 0.0419439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKN2 Val198Ile V198I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -4 - 0 N - - CHI3L2 Gln320Ala Q320A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCE2C Pro33Leu P33L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCE2C Phe41Ser F41S not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRELP Ser304Ala S304A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - -1 - 1 N - - FZD8 Phe591Ser F591S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 5 Y 0 N - - BC047597 Ile180Met I180M not reviewed Insufficiently evaluated not reviewed unknown Array rs73302791 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DMBT1 Arg1497His R1497H not reviewed Insufficiently evaluated not reviewed unknown Array 4 9758 0.00040992 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - TNFRSF1A Ala330Pro A330P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - ACSS3 Ala339Gly A339G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - DAO LeuArgGlyAla255Del LRGA255Del not reviewed Insufficiently evaluated not reviewed unknown Array rs58674839 3 126 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DQ866763 Arg233Cys R233C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C14ORF80 Pro177Leu P177L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR4N4 Pro129Arg P129R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CR619482 Lys19Met K19M not reviewed Insufficiently evaluated not reviewed unknown Array rs74002793 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC156598 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array rs73492368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1QTNF8 Arg93Gly R93G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - FBXW10 Cys32Gly C32G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TANC2 Val911Ala V911A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - QRICH2 Gly589Arg G589R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - QRICH2 ValPro586AlaGln VP586AQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - QRICH2 His581Del H581Del not reviewed Insufficiently evaluated not reviewed unknown Array rs35035566 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RPSA Gly229Val G229V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPTBN4 His1182Asn H1182N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEKT4 Thr140Ala T140A not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR39 Thr261Arg T261R not reviewed Insufficiently evaluated not reviewed unknown Array rs72999238 16 10758 0.00148726 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF16B ValGln854GluGlu VQ854EE not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSBPL2 ArgLeu403ProArg RL403PR not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C21ORF67 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array rs11088971 53 3234 0.0163884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF717 His808Tyr H808Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHB18 Val247Phe V247F not reviewed Insufficiently evaluated not reviewed unknown Array rs73281225 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 0 N - - HLA-DRB5 Gly115Val G115V not reviewed Insufficiently evaluated not reviewed unknown Array rs41559714 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 8 Y 0 N - - THEMIS Val459Met V459M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.902 - - 0 - 2 N - - PLOD3 Gly555Arg G555R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 6 Y 0 N - - CHPF2 Pro640Leu P640L not reviewed Insufficiently evaluated not reviewed unknown Array 125 10746 0.0116322 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - BC037255 Gly185Val G185V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GJB4 Val52Shift V52Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - GJB3 Arg32Trp R32W benign Low clinical importance, Uncertain benign unknown Array rs1805063 240 10758 0.022309 2 0 2 3 3 ! Y 1 Y 4 Y - - - - - - Y - - - 1.0 Y Y 7 Y 4 N 0 0 Probably benign. Although Polyphen 2 predicts it be damaging and some publications suggested it might have a functional effect, others report it to be a fairly common polymorphism and functional studies failed to find a difference between it and wild type. CLDN19 Gly220Cys G220C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.793 Y - 7 Y 2 N - - CLCA3P Lys47Shift K47Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VANGL1 Arg175Trp R175W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.038 Y - 7 Y 1 N - - ASPM Arg1729Trp R1729W not reviewed Insufficiently evaluated not reviewed unknown Array rs41299623 96 10754 0.00892691 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TRIM17 Glu123Shift E123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CUBN Gly272Arg G272R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - ZNF22 Asn201Shift N201Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WDFY4 Leu1384Shift L1384Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ERCC6 Phe1217Cys F1217C not reviewed Insufficiently evaluated not reviewed unknown Array rs61760166 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 4 Y 4 N - - PCDH15 Arg962Leu R962L not reviewed Insufficiently evaluated not reviewed unknown Array rs45483395 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.246 Y Y 6 Y 3 N - - ZNF214 Tyr303Shift Y303Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC136797 Leu449Shift L449Shift not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC35C1 Pro352Ser P352S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - IGSF9B Ala880Shift A880Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VWF Ser40Ile S40I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y 5 Y 2 N - - A2ML1 Ala1226Shift A1226Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRK2 Arg2477Trp R2477W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - GNPTAB Arg394Ser R394S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 4 N - - SACS Ile3664Thr I3664T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.067 Y Y 3 - 2 N - - HSPH1 Asn131Shift N131Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC122 Trp253Stop W253X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TEP1 Thr1369Ala T1369A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TGM5 Asp515Shift D515Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG11 Leu2357Phe L2357F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - MYEF2 Ser348Shift S348Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAH Val206Shift V206Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TSC2 Asp376Shift D376Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CAMTA2 Gly337Shift G337Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ELAC2 Asp351Shift D351Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - CD300LG Ala231Shift A231Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746787 Arg62Stop R62X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACOX1 Ser511Ile S511I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.951 Y - 5 Y 3 N - - SPHK1 Pro362Shift P362Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPC1 Val810Phe V810F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - CTDP1 Glu582Del E582Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - MAN2B1 Leu968Pro L968P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 7 Y 4 N - - NOTCH3 Ser497Leu S497L not reviewed Insufficiently evaluated not reviewed unknown Array 81 10752 0.00753348 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 6 Y 2 N - - PRX Glu1361Del E1361Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - MBOAT7 Phe241Shift F241Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C2ORF49 Glu14Shift E14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JAG1 Pro871Arg P871R not reviewed Insufficiently evaluated not reviewed unknown Array rs35761929 529 10758 0.0491727 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.803 Y Y 5 Y 3 N - - SLC2A10 Ala58Shift A58Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - TRIOBP Ser826Leu S826L not reviewed Insufficiently evaluated not reviewed unknown Array rs41296243 200 10054 0.0198926 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.243 Y - 6 Y 2 N - - TRIOBP Arg1445Gly R1445G not reviewed Insufficiently evaluated not reviewed unknown Array 8 9288 0.000861326 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.926 Y - 6 Y 3 N - - KDELR3 Tyr48Stop Y48X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EP300 Gln2223Pro Q2223P not reviewed Insufficiently evaluated not reviewed unknown Array rs1046088 287 10758 0.0266778 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - MST1R Thr1265Shift T1265Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNB Arg566Gln R566Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.895 Y Y 0 - 4 N - - MITF Arg136Trp R136W not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 7 Y 3 N - - GBE1 Ile59Thr I59T not reviewed Insufficiently evaluated not reviewed unknown Array rs28763904 63 9522 0.00661626 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.861 Y Y 3 - 4 N - - COL6A5 Gln2050Stop Q2050X not reviewed Insufficiently evaluated not reviewed unknown Array rs2201717 56 9764 0.00573535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CLDN16 Cys120Tyr C120Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - KLB Glu72Shift E72Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TIGD4 Ala40Shift A40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DCHS2 Arg1343Stop R1343X not reviewed Insufficiently evaluated not reviewed unknown Array 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HELT Ala205Shift A205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RICTOR His735Shift H735Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR98 Asp1051Tyr D1051Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 9792 0.00183823 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - GPR98 Glu1064Ala E1064A not reviewed Insufficiently evaluated not reviewed unknown Array 18 9718 0.00185223 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - EPB41L4A Ser511Stop S511X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CAPN11 Ile108Shift I108Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71986029 5 128 0.0390625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL9A1 Gly302Ser G302S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10456 0.00210405 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HOXA1 Gln188Lys Q188K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.866 Y Y -2 - 4 N - - SMURF1 Cys373Shift C373Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNTNAP2 Asp1038Shift D1038Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NAT1 Arg187Stop R187X not reviewed Insufficiently evaluated not reviewed unknown Array rs5030839 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PSCA Trp118Stop W118X not reviewed Insufficiently evaluated not reviewed unknown Array 255 10342 0.0246567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TOPORS Ser577Tyr S577Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - OCRL Thr14Ile T14I not reviewed Insufficiently evaluated not reviewed unknown Array rs61752970 34 8761 0.00388083 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 3 - 2 N - - KLHL17 Glu338Lys E338K not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 0 - 0 N - - ATAD3C Ile50Asn I50N not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - LRRC47 Glu559Lys E559K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - KIAA0562 Gly913Arg G913R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - ESPN Thr429Ile T429I not reviewed Insufficiently evaluated not reviewed unknown Array 55 10740 0.00512104 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CASZ1 Ser59Leu S59L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10416 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANGPTL7 Thr299Lys T299K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - PAFAH2 His235Tyr H235Y not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PHC2 Leu310Val L310V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - CSF3R Arg440Gln R440Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3918020 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - RRAGC Val264Ile V264I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - -4 - 1 N - - MACF1 Asn402Ser N402S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Phe1206Leu F1206L not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RLF Pro1608Thr P1608T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 4 Y 1 N - - ATPAF1 Gln167Arg Q167R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - CYP4B1 Arg265Trp R265W not reviewed Insufficiently evaluated not reviewed unknown Array rs45446505 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPS15 Ser438Leu S438L not reviewed Insufficiently evaluated not reviewed unknown Array rs41292521 177 10758 0.0164529 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.16 - - 6 Y 0 N - - PARS2 Pro364Arg P364R not reviewed Insufficiently evaluated not reviewed unknown Array rs35201073 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - C1ORF87 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LPHN2 Ser1289Thr S1289T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLCA4 Ala844Val A844V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DENND2C Tyr776His Y776H not reviewed Insufficiently evaluated not reviewed unknown Array rs61753528 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTF2 Tyr672Cys Y672C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - NBPF7 Gln297Lys Q297K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - S100A11 Ser5Phe S5F not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 5 Y 0 N - - HRNR Asp668Gly D668G not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR6K6 Ser15Arg S15R not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCP4L1 Gln53Arg Q53R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9868 0.000101337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - PAPPA2 Ser446Gly S446G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - RASAL2 Arg967Cys R967C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DHX9 SerGlyGlyTyrGly1196Del SGGYG1196Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SMG7 Pro674His P674H not reviewed Insufficiently evaluated not reviewed unknown Array rs34426362 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PTPN7 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - LGR6 GlnPro957HisCys QP957HC not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LAX1 Pro396Ser P396S not reviewed Insufficiently evaluated not reviewed unknown Array rs41264261 263 10758 0.0244469 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - CNTN2 Val1024Ile V1024I not reviewed Insufficiently evaluated not reviewed unknown Array rs17416074 532 10758 0.0494516 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NEK2 Arg288Gln R288Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.435 - - 0 - 1 N - - FAM71A Thr11Met T11M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - DISC1 His256Asp H256D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - KIF26B Ala1355Gly A1355G not reviewed Insufficiently evaluated not reviewed unknown Array 23 10254 0.00224303 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - KIF26B Ser1568Leu S1568L not reviewed Insufficiently evaluated not reviewed unknown Array 13 9862 0.00131819 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - DIP2C Gly509Ser G509S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 2 - 2 N - - PPYR1 Val40Met V40M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPYR1 Leu287Pro L287P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 7 Y 2 N - - BICC1 Gly821Glu G821E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - DDX50 Asn408Tyr N408Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 5 Y 2 N - - LRRC20 Ala145Val A145V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - NUDT13 Val24Ala V24A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - ZMYND17 Arg297Cys R297C not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 8 Y 2 N - - BC137250 Ala27Thr A27T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC16A12 Ser226Pro S226P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 3 - 0 N - - ENTPD1 Thr458Asn T458N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCNJ Gly113Ser G113S not reviewed Insufficiently evaluated not reviewed unknown Array rs56312714 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 2 - 2 N - - DNTT Arg431His R431H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCC2 Val1214Ala V1214A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.485 Y - 2 - 2 N - - SH3PXD2A Gln759His Q759H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRUB1 Glu103Ala E103A not reviewed Insufficiently evaluated not reviewed unknown Array rs34393297 272 10758 0.0252835 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 3 - 0 N - - KNDC1 Arg46Trp R46W not reviewed Insufficiently evaluated not reviewed unknown Array 64 10724 0.00596792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - TUBGCP2 Ala609Thr A609T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIGIRR Gly391Arg G391R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10720 0.000373134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TMEM80 Gly52Arg G52R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EFCAB4A Gln198Arg Q198R not reviewed Insufficiently evaluated not reviewed unknown Array 236 8606 0.0274227 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.578 - - 0 - 1 N - - MUC6 Thr1854Met T1854M not reviewed Insufficiently evaluated not reviewed unknown Array rs62891761 3031 10692 0.283483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SLC22A18AS Pro222Leu P222L not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC22A18AS Thr200Ile T200I not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR51B4 Ala187Gly A187G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR51I1 Ser295Thr S295T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - DCHS1 Thr2483Ile T2483I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - OR10A6 Ser295Asn S295N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - DEPDC7 Ala192Thr A192T not reviewed Insufficiently evaluated not reviewed unknown Array rs34161108 487 9506 0.0512308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - LRP4 Arg373Trp R373W not reviewed Insufficiently evaluated not reviewed unknown Array 212 10758 0.0197063 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR4C13 Asp266Tyr D266Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - OR8U8 PheLeuMet153IleLeuVal FLM153ILV not reviewed Insufficiently evaluated not reviewed unknown Array rs80334520 3 98 0.0306122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GLYATL1 Arg281Gln R281Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD6 Pro105Leu P105L not reviewed Insufficiently evaluated not reviewed unknown Array 137 5080 0.0269685 2 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CD6 Thr539Ala T539A not reviewed Insufficiently evaluated not reviewed unknown Array rs61755080 480 10758 0.044618 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - C11ORF66 Arg116Gln R116Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A10 Leu537Phe L537F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A9 Ala445Val A445V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - ARL2 Gly2Glu G2E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CCDC87 Arg333His R333H not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - CABP2 Arg220Gln R220Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - 0 - 2 N - - AK054725 Pro51Ala P51A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHRDL2 Pro335Leu P335L not reviewed Insufficiently evaluated not reviewed unknown Array rs35903991 104 10758 0.00966722 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TSKU Thr121Pro T121P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - RSF1 Arg1163Gln R1163Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - NARS2 Lys300Arg K300R not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -3 - 0 N - - ODZ4 Val1196Leu V1196L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10162 0.000196811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRM5 Arg762Ser R762S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - TAF1D Leu221Val L221V not reviewed Insufficiently evaluated not reviewed unknown Array rs34591613 125 10756 0.0116214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - C11ORF93 Ala91Thr A91T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKK1 His367Gln H367Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34298987 202 10100 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SIDT2 Asp791Gly D791G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CEP164 Pro127His P127H not reviewed Insufficiently evaluated not reviewed unknown Array 36 10682 0.00337016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 5 Y 1 N - - C2CD2L Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCAM Pro634Leu P634L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.582 - - 7 Y 1 N - - OR10G9 Thr62Ile T62I not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 3 - 1 N - - PANX3 Thr208Ala T208A not reviewed Insufficiently evaluated not reviewed unknown Array rs35569094 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.799 - - 1 - 1 N - - KCNJ1 Thr86Ala T86A not reviewed Insufficiently evaluated not reviewed unknown Array rs41302407 10 10758 0.00092954 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.361 Y - 1 - 2 N - - NTM Gly322Ser G322S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - EMG1 Val162Leu V162L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9792 0.000204248 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - A2ML1 Glu725Lys E725K not reviewed Insufficiently evaluated not reviewed unknown Array 6 9632 0.000622923 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PHC1 Gln463Lys Q463K not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PHC1 Ser464Pro S464P not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPRC5D Ala77Thr A77T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHA5 Gly744Ser G744S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.133 - - 2 - 0 N - - PLEKHA5 Arg954Lys R954K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PLEKHA5 Cys1115Gly C1115G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - GYS2 Gln655His Q655H not reviewed Insufficiently evaluated not reviewed unknown Array 252 10758 0.0234244 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -1 - 1 N - - CAPRIN2 Pro653Leu P653L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - 7 Y 1 N - - C12ORF72 Leu195Val L195V not reviewed Insufficiently evaluated not reviewed unknown Array rs11051523 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PFKM Gln447Lys Q447K not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - MLL2 Arg83Gln R83Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55865069 228 9988 0.0228274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LIMA1 Val138Ala V138A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT84 Gly121Asp G121D not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 4 Y 1 N - - MAP3K12 Asp248Glu D248E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -2 - 2 N - - LRIG3 Met378Val M378V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 0 - 2 N - - USP15 Gly927Ala G927A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRB Ser1164Asn S1164N not reviewed Insufficiently evaluated not reviewed unknown Array 17 10282 0.00165337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MGAT4C Ile449Val I449V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC41 Val655Ala V655A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC064342 Ser179Leu S179L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FOXN4 Pro152Ser P152S not reviewed Insufficiently evaluated not reviewed unknown Array 109 3220 0.0338509 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX54 Tyr353Cys Y353C not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - NM_207436 Val12Asp V12D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 8 Y 1 N - - PXN Arg297Trp R297W not reviewed Insufficiently evaluated not reviewed unknown Array 7 7790 0.000898587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZCCHC8 Lys32Thr K32T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 3 - 2 N - - NM_001007537 Gly298Glu G298E not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.886 - - 6 Y 2 N - - C1QTNF9 Gly77Ala G77A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751353 5 10702 0.000467202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USPL1 Gly143Glu G143E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - DIAPH3 Pro588Leu P588L not reviewed Insufficiently evaluated not reviewed unknown Array rs111260336 289 9864 0.0292985 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DIS3 Pro635Ser P635S not reviewed Insufficiently evaluated not reviewed unknown Array rs35017269 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.328 - - 3 - 1 N - - DIS3 Asp438Asn D438N not reviewed Insufficiently evaluated not reviewed unknown Array rs35288597 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - -1 - 1 N - - PIBF1 Arg299Gln R299Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61999297 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.494 - - 0 - 1 N - - UPF3A Ala450Val A450V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 2 - 0 N - - UPF3A Arg104Cys R104C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OXA1L Pro56Leu P56L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HOMEZ Glu537Del E537Del not reviewed Insufficiently evaluated not reviewed unknown Array rs67447855 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NID2 Gly118Arg G118R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734508 183 10756 0.0170138 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - RAD51L1 Pro365Arg P365R not reviewed Insufficiently evaluated not reviewed unknown Array rs28908468 128 5262 0.0243254 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAP3K9 Gln457His Q457H not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - -1 - 2 N - - DCAF4 Ser325Gly S325G not reviewed Insufficiently evaluated not reviewed unknown Array rs117449182 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.962 - - 2 - 2 N - - C14ORF169 Ala126Val A126V not reviewed Insufficiently evaluated not reviewed unknown Array rs10147070 181 1618 0.111867 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DLST Pro204Leu P204L not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NEK9 Asp84Asn D84N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - VIPAR Gly473Arg G473R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - NRXN3 Arg369His R369H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF26A Ala1122Ser A1122S not reviewed Insufficiently evaluated not reviewed unknown Array 242 9784 0.0247343 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GABRG3 Thr352Ala T352A not reviewed Insufficiently evaluated not reviewed unknown Array rs2066712 141 10184 0.0138452 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - TRPM1 Ser1331Arg S1331R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - TRPM1 Ala695Pro A695P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10542 0.0011383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - PLCB2 Pro166Leu P166L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9882 0.000708358 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPINT1 Arg402His R402H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGM5 Pro516Ser P516S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - TGM7 Asn691Asp N691D not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DUOX2 Ala728Thr A728T not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - USP8 Ala348Thr A348T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733869 346 10756 0.0321681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCG3 Ser125Asn S125N not reviewed Insufficiently evaluated not reviewed unknown Array rs2305710 255 10750 0.0237209 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.655 Y - 0 - 2 N - - HSP90AB4P Phe468Leu F468L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.111 - - 0 - 0 N - - TLN2 Leu2471Phe L2471F not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIF1 Cys284Arg C284R not reviewed Insufficiently evaluated not reviewed unknown Array 131 10752 0.0121838 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CSK Ala427Thr A427T not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - UBE2Q2 Glu140Asp E140D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SH2D7 Lys435Arg K435R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9938 0.000100623 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - KIAA1024 Phe340Ser F340S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - IDH2 Val50Met V50M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - LASS3 Asp342Gly D342G not reviewed Insufficiently evaluated not reviewed unknown Array rs1023783 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - PGP Gly287Arg G287R not reviewed Insufficiently evaluated not reviewed unknown Array 303 10050 0.0301493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRRM2 Thr2420Ile T2420I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - CRYM Gly84Cys G84C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0556 Glu1426Lys E1426K not reviewed Insufficiently evaluated not reviewed unknown Array 243 10758 0.0225878 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SEZ6L2 Glu507Lys E507K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - TBX6 Ala423Glu A423E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ZNF646 Pro300His P300H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF646 Ala875Val A875V not reviewed Insufficiently evaluated not reviewed unknown Array 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBL2 Arg829Ser R829S not reviewed Insufficiently evaluated not reviewed unknown Array rs61747629 81 10758 0.00752928 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - CES5A Ala132Thr A132T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.882 - - 1 - 2 N - - CES5A Ala128Glu A128E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - NLRC5 Gly1346Ser G1346S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACD Val94Ile V94I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10726 0.000745851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.55 - - -4 - 1 N - - SNTB2 Asn465Tyr N465Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - HYDIN Val13Phe V13F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 3 - 0 N - - ATMIN Ser173Leu S173L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 6 Y 2 N - - CTU2 Gly9Arg G9R not reviewed Insufficiently evaluated not reviewed unknown Array 62 6770 0.00915805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC089450 Gln46Arg Q46R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1C Glu866Lys E866K not reviewed Insufficiently evaluated not reviewed unknown Array rs61753655 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZZEF1 Asn209Ser N209S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH2 Ile118Thr I118T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - MYO15A His529Tyr H529Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y - -1 - 1 N - - SPAG5 Arg832Gln R832Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - NUFIP2 Ser276Pro S276P not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 3 - 1 N - - SLFN13 Arg643Gly R643G not reviewed Insufficiently evaluated not reviewed unknown Array 91 10372 0.00877362 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.179 - - 6 Y 0 N - - GAS2L2 Gly594Arg G594R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF78 Arg104His R104H not reviewed Insufficiently evaluated not reviewed unknown Array 12 9866 0.0012163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R1B Ser198Tyr S198Y not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - BC043620 Leu222Trp L222W not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITGA2B Ala668Thr A668T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GPATCH8 Arg907His R907H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTLL6 Arg153Trp R153W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TEX14 Arg406Gln R406Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF82 Pro19Ala P19A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MED13 Ser1548Gly S1548G not reviewed Insufficiently evaluated not reviewed unknown Array 55 10086 0.0054531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FTSJ3 Gln569Arg Q569R not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - UNK Ala804Asn A804N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - QRICH2 Pro221Leu P221L not reviewed Insufficiently evaluated not reviewed unknown Array 199 10758 0.0184979 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 7 Y 0 N - - QRICH2 Pro101Gln P101Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62621822 221 10758 0.0205429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.595 - - 4 Y 1 N - - BAHCC1 Ser1051Thr S1051T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSCN2 Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10364 0.000385951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - L3MBTL4 Cys526Tyr C526Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - ANKRD12 Pro122Thr P122T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - ASXL3 Leu2067Arg L2067R not reviewed Insufficiently evaluated not reviewed unknown Array 67 9664 0.00693295 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - LOXHD1 Thr1480Ser T1480S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CXXC1 Asp653Asn D653N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADNP2 Ser677Ala S677A not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - -1 - 1 N - - NM_024888 Gly190Ser G190S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ADAMTSL5 Arg304Cys R304C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF555 Cys485Gly C485G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - AK098244 Gly725Arg G725R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC94 Gln193Arg Q193R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10702 9.344e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PNPLA6 Gly1322Ser G1322S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10752 0.00567336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC151 Pro50Ser P50S not reviewed Insufficiently evaluated not reviewed unknown Array 31 9960 0.00311245 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - SSBP4 Ala226Thr A226T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR604380 Glu14Gly E14G not reviewed Insufficiently evaluated not reviewed unknown Array 5 122 0.0409836 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP33 Asp48Glu D48E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - ZNF790 Cys371Tyr C371Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - C19ORF33 Pro16Thr P16T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL28A Thr6Ser T6S not reviewed Insufficiently evaluated not reviewed unknown Array 61 10754 0.00567231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SUPT5H Pro66Ser P66S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 3 - 2 N - - DYRK1B Arg70Trp R70W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FCGBP Ala4177Thr A4177T not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC034980 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PVRL2 Asp496Asn D496N not reviewed Insufficiently evaluated not reviewed unknown Array rs41290128 59 9856 0.0059862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.196 - - -1 - 0 N - - TRAPPC6A Thr106Ile T106I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EML2 Gly368Ser G368S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RSPH6A Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array rs12459916 2 122 0.0163934 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - DHX34 His1035Gln H1035Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TULP2 Gly122Ser G122S not reviewed Insufficiently evaluated not reviewed unknown Array rs34378208 637 10758 0.0592117 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SCAF1 Arg969Trp R969W not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - IGLON5 Val157Met V157M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10098 9.9029e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 0 - 1 N - - ZNF28 Phe339Leu F339L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LILRB2 Arg583Gly R583G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - LILRA2 Glu63Gly E63G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 6 Y 0 N - - ZNF749 Ser465Ala S465A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GCKR Val103Met V103M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - LRPPRC Thr784Arg T784R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - EHBP1 Tyr768Cys Y768C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10750 0.00223256 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - MXD1 Arg189Gln R189Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 Y - 0 - 3 N - - RNF103 Leu425Val L425V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - TRIM43 Asp241Glu D241E not reviewed Insufficiently evaluated not reviewed unknown Array rs2463900 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - AK131289 Met241Ile M241I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - IL1RL1 His162Gln H162Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - IL1B Arg127Trp R127W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - CNTNAP5 Asp692Gly D692G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10068 0.000198649 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - SMPD4 Phe827Del F827Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IMP4 Ile258Val I258V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 0 N - - KYNU Lys299Glu K299E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LY75 Arg763Gln R763Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - PLA2R1 Arg404His R404H not reviewed Insufficiently evaluated not reviewed unknown Array rs33985939 595 10758 0.0553077 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ITGA4 Thr785Ile T785I not reviewed Insufficiently evaluated not reviewed unknown Array rs55705823 7 9572 0.000731299 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRZB Met291Thr M291T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 2 - 1 N - - INO80D Asn76Ser N76S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM23 Ile118Met I118M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - ZNF142 Arg1165His R1165H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10000 0.0002 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DGKD Met764Ile M764I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - TRAF3IP1 Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742338 321 10758 0.0298383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TGM6 Arg448Trp R448W not reviewed Insufficiently evaluated not reviewed unknown Array 155 10754 0.0144132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - PTPRA Val751Ile V751I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SEL1L2 Ile193Val I193V not reviewed Insufficiently evaluated not reviewed unknown Array 159 9426 0.0168682 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.033 - - -4 - 0 N - - C20ORF79 Trp2Arg W2R not reviewed Insufficiently evaluated not reviewed unknown Array rs41308631 85 10758 0.0079011 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM83D Thr452Ser T452S not reviewed Insufficiently evaluated not reviewed unknown Array rs41276984 160 10584 0.0151172 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GTSF1L Leu56Val L56V not reviewed Insufficiently evaluated not reviewed unknown Array rs17826038 238 10758 0.0221231 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - PPP4R1L Ile38Val I38V not reviewed Insufficiently evaluated not reviewed unknown Array rs41303905 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LAMA5 Pro3536Ser P3536S not reviewed Insufficiently evaluated not reviewed unknown Array rs41307203 149 10708 0.0139148 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - LAMA5 Arg3165Gln R3165Q not reviewed Insufficiently evaluated not reviewed unknown Array 158 10706 0.0147581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - CABLES2 Val381Leu V381L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742254 191 10758 0.0177542 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - NM_001037335 Asn428Lys N428K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10188 0.00265018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.309 - - 1 - 1 N - - PCNT Gln1449Glu Q1449E not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.741 - - -2 - 1 N - - CLTCL1 Glu1087Lys E1087K not reviewed Insufficiently evaluated not reviewed unknown Array rs34486244 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHL22 His474Arg H474R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RTDR1 Arg289Cys R289C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 8 Y 0 N - - KREMEN1 Val280Ile V280I not reviewed Insufficiently evaluated not reviewed unknown Array 12 9892 0.0012131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - APOBEC3F Tyr196Asn Y196N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - PACSIN2 Ala355Thr A355T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10366 0.00212232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBLN1 Gln293Arg Q293R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - TTLL8 Arg61Trp R61W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - ADM2 Val139Gly V139G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.869 - - 8 Y 2 N - - IRAK2 Ser217Arg S217R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - NEK10 Leu455Val L455V not reviewed Insufficiently evaluated not reviewed unknown Array 1 7820 0.000127877 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 0 - 1 N - - FBXL2 His272Arg H272R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 1 - 0 N - - SCN11A Ile789Phe I789F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 2 - 1 N - - SCN11A Ala32Val A32V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - ZNF662 Glu93Del E93Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM198A Ala254Asp A254D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C3ORF39 Arg141Cys R141C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTPN23 Val1348Ala V1348A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - RNF123 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IFRD2 Cys345Arg C345R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SPCS1 His4Tyr H4Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -1 - 0 N - - NEK4 Ile494Asn I494N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IL17RB Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232340 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL17RB Asn458Ser N458S not reviewed Insufficiently evaluated not reviewed unknown Array rs2232351 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17RB Cys499Arg C499R not reviewed Insufficiently evaluated not reviewed unknown Array rs28385751 170 10754 0.0158081 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - LMOD3 Pro552His P552H not reviewed Insufficiently evaluated not reviewed unknown Array 128 9916 0.0129084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 5 Y 2 N - - ROBO1 Val838Ile V838I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - GTF2E1 Asp3His D3H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - GATA2 Thr235Asn T235N not reviewed Insufficiently evaluated not reviewed unknown Array rs35079193 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXND1 Pro1042Leu P1042L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HLTF Ser378Thr S378T not reviewed Insufficiently evaluated not reviewed unknown Array rs61755303 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CP Arg793His R793H not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.186 - Y 1 - 1 N - - FAM194A Arg549Cys R549C not reviewed Insufficiently evaluated not reviewed unknown Array rs114572143 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OTOL1 Pro175Thr P175T not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR49 Ile164Val I164V not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - LSG1 Gly580Asp G580D not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 4 Y 0 N - - MUC4 Thr1999Asn T1999N not reviewed Insufficiently evaluated not reviewed unknown Array 113 3216 0.0351368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_152672 Ile272Val I272V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -4 - 2 N - - AX747828 GluGlu95AspLys EE95DK not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCGF3 Glu144Arg E144R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1530 Gly355Arg G355R not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRK4 Arg342Ser R342S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF518B Gly16Arg G16R not reviewed Insufficiently evaluated not reviewed unknown Array rs72648876 207 10758 0.0192415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - N4BP2 Cys597Tyr C597Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - KDR Thr689Met T689M not reviewed Insufficiently evaluated not reviewed unknown Array rs34038364 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KDR Asp81Asn D81N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.629 - - -1 - 1 N - - CSN3 Arg88Lys R88K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - -3 - 0 N - - C4ORF35 Ala176Thr A176T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC158 Arg134Gln R134Q not reviewed Insufficiently evaluated not reviewed unknown Array rs80162610 303 9520 0.0318277 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - KLHL8 Asn565Asp N565D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.851 - - -1 - 2 N - - MMRN1 Tyr1097His Y1097H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - MTTP Val168Ile V168I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750974 84 10756 0.00780959 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - -4 - 2 N - - TET2 Pro1237Arg P1237R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 5 Y 2 N - - SYNPO2 Arg1009Trp R1009W not reviewed Insufficiently evaluated not reviewed unknown Array rs61732241 788 10758 0.0732478 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 1 N - - FAT4 Ala4886Gly A4886G not reviewed Insufficiently evaluated not reviewed unknown Array rs35340865 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DDX60 Asp1104Gly D1104G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 4 Y 0 N - - C4ORF27 Val155Phe V155F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHRR Arg453Cys R453C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10340 0.00618955 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC6A3 Asn38Lys N38K not reviewed Insufficiently evaluated not reviewed unknown Array rs6350 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 1 - 0 N - - FAM105B Gln115His Q115H not reviewed Insufficiently evaluated not reviewed unknown Array 70 10086 0.00694031 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - MTMR12 Arg701Cys R701C not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TARS Gly580Asp G580D not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - 4 Y 1 N - - ADAMTS12 Glu1422Gln E1422Q not reviewed Insufficiently evaluated not reviewed unknown Array 276 10758 0.0256553 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -2 - 0 N - - ADAMTS12 Pro1414Thr P1414T not reviewed Insufficiently evaluated not reviewed unknown Array 276 10758 0.0256553 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 4 Y 2 N - - OSMR Gly578Asp G578D not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 4 Y 2 N - - PTGER4 Ala230Glu A230E not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - C5ORF51 Leu82Ile L82I not reviewed Insufficiently evaluated not reviewed unknown Array 43 10708 0.00401569 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NNT Ile918Val I918V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MRPS27 Gln396Glu Q396E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001080479 Arg343His R343H not reviewed Insufficiently evaluated not reviewed unknown Array 9 9580 0.000939457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - POC5 Ala429Val A429V not reviewed Insufficiently evaluated not reviewed unknown Array 101 10390 0.00972089 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 2 - 0 N - - THBS4 Ala420Val A420V not reviewed Insufficiently evaluated not reviewed unknown Array rs17882372 116 10758 0.0107827 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP6AP1L Tyr89His Y89H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740965 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - SLCO6A1 Phe164Leu F164L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 0 - 2 N - - PRRC1 Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array rs61736664 201 10758 0.0186838 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - FSTL4 Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - NPY6R Gly154Ser G154S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - 2 - 0 N - - PCDHB12 Pro721Arg P721R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PCDHB13 Ser534Thr S534T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHB15 Thr508Ala T508A not reviewed Insufficiently evaluated not reviewed unknown Array rs61745117 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIGD6 Arg9His R9H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - HAVCR1 Met158ThrThr M158TT not reviewed Insufficiently evaluated not reviewed unknown Array rs6149307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ODZ2 Asp410Gly D410G not reviewed Insufficiently evaluated not reviewed unknown Array 67 3234 0.0207174 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.863 - - 4 Y 2 N - - ODZ2 Glu2711Del E2711Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF354B Glu603Lys E603K not reviewed Insufficiently evaluated not reviewed unknown Array 26 10748 0.00241905 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - GRM6 Leu698Val L698V not reviewed Insufficiently evaluated not reviewed unknown Array rs62638623 67 10756 0.00622908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.924 Y - 0 - 3 N - - C5ORF45 Glu121Lys E121K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D9B Glu819Lys E819K not reviewed Insufficiently evaluated not reviewed unknown Array rs11545788 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - TBC1D9B Ser229Cys S229C not reviewed Insufficiently evaluated not reviewed unknown Array 49 10756 0.0045556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - GFPT2 Ile455Leu I455L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10680 0.00205993 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -2 - 0 N - - OR2V2 Lys273Gln K273Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - -2 - 2 N - - GNB2L1 Asp294Gly D294G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.265 - - 4 Y 1 N - - CAGE1 His59Tyr H59Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GCM2 Ile227Val I227V not reviewed Insufficiently evaluated not reviewed unknown Array rs35395043 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HIST1H1D Val41Ile V41I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.74 - - -4 - 1 N - - HLA-C Phe265Ser F265S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - NCR3 Arg84His R84H not reviewed Insufficiently evaluated not reviewed unknown Array 16 7524 0.00212653 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - IP6K3 Ser156Leu S156L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - DEF6 Gln116Arg Q116R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - MEP1A Val712Met V712M not reviewed Insufficiently evaluated not reviewed unknown Array 268 10758 0.0249117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHL31 Val275Ile V275I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - -4 - 1 N - - CASP8AP2 Met668Thr M668T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - 2 - 1 N - - MANEA Met83Val M83V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ASCC3 Leu1196Gln L1196Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - SLC22A16 Ala200Val A200V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729086 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.347 - - 2 - 1 N - - ROS1 Phe2315Ser F2315S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 5 Y 0 N - - ENPP3 Ala330Val A330V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEBP2 Tyr110His Y110H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - PHACTR2 Pro187Leu P187L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9662 0.000103498 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC047626 Ala139Thr A139T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RAET1E Arg132Gln R132Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.757 - - 0 - 1 N - - AKAP12 Glu367Lys E367K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.356 - - 0 - 1 N - - RMND1 Phe236Tyr F236Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - PLG Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array rs4252187 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - HEATR2 Glu478Lys E478K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - C7ORF27 Gly576Ser G576S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740320 135 10752 0.0125558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBAK Leu127Pro L127P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAGLB Ala103Val A103V not reviewed Insufficiently evaluated not reviewed unknown Array 272 10758 0.0252835 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF12 Gln301Glu Q301E not reviewed Insufficiently evaluated not reviewed unknown Array rs61731528 284 10746 0.0264284 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCIN Asn496Ser N496S not reviewed Insufficiently evaluated not reviewed unknown Array 8 9698 0.000824912 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPY19L2P3 Val7Met V7M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR597893 Asp137Asn D137N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FIGNL1 Cys587Trp C587W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - COBL Tyr891Cys Y891C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - COBL SerGlu295TrpCys SE295WC not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 9 Y 1 N - - SRCRB4D Thr295Ala T295A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.58 - - 1 - 1 N - - AKAP9 Ala1194Thr A1194T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMD9L Ala522Val A522V not reviewed Insufficiently evaluated not reviewed unknown Array 176 10756 0.016363 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 2 - 1 N - - PDAP1 Glu152Ala E152A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.863 - - 3 - 2 N - - IQUB Gln235Arg Q235R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQUB Glu196Lys E196K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BPGM Arg227His R227H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCAPG2 Asp182Gly D182G not reviewed Insufficiently evaluated not reviewed unknown Array rs61752311 9 9548 0.000942605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.44 - - 4 Y 1 N - - MYOM2 Ala33Glu A33E not reviewed Insufficiently evaluated not reviewed unknown Array rs35578989 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNKS Ser145Phe S145F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RP1L1 Ser2301Cys S2301C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9896 0.00010105 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX746881 Pro46Thr P46T not reviewed Insufficiently evaluated not reviewed unknown Array rs13279014 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCM1 Met678Ile M678I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.951 - - -1 - 2 N - - FAM160B2 Leu683Phe L683F not reviewed Insufficiently evaluated not reviewed unknown Array 5 126 0.0396825 4 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF395 Ser34Leu S34L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RRS1 Lys126Arg K126R not reviewed Insufficiently evaluated not reviewed unknown Array rs3739335 119 10656 0.0111674 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.082 - - -3 - 0 N - - ARFGEF1 Ala1592Thr A1592T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LY96 Pro157Ser P157S not reviewed Insufficiently evaluated not reviewed unknown Array rs11466004 145 10756 0.0134808 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.909 - - 3 - 2 N - - RBM12B Pro815Ser P815S not reviewed Insufficiently evaluated not reviewed unknown Array 129 9508 0.0135675 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEC Arg4639Ser R4639S not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATC1 Thr201Ile T201I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA2026 Ile747Val I747V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9428 0.000106067 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.161 - - -4 - 0 N - - ADAMTSL1 Gly853Arg G853R not reviewed Insufficiently evaluated not reviewed unknown Array rs2060362 334 9288 0.0359604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC24A2 Asn601Ser N601S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745273 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - PPP3R2 Glu51Lys E51K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALM2-AKAP2 Arg391Gln R391Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUSD1 Pro243Gln P243Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - TLR4 Cys281Tyr C281Y not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - OR1Q1 Arg54Cys R54C not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.027 - - 8 Y 0 N - - PDCL Pro43Ala P43A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - NAIF1 Thr189Met T189M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KCNT1 Gly702Ser G702S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXD3 Arg263Cys R263C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10090 0.000891972 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 8 Y 2 N - - NOXA1 Arg398Gln R398Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10288 0.000972006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - PNPLA7 Ser405Leu S405L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10684 0.00131037 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAGIX Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 32 8121 0.0039404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - FAM123B Ser677Pro S677P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.516 - - 3 - 1 N - - ATP1B4 Thr304Ser T304S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VGLL1 Thr59Ile T59I not reviewed Insufficiently evaluated not reviewed unknown Array rs3027860 34 8761 0.00388083 3 0 5 0 0 - - - - - - - - - - - - - - - - 0.509 - - 3 - 1 N - - CNGA2 Gly113Val G113V not reviewed Insufficiently evaluated not reviewed unknown Array 51 8761 0.00582125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPRY3 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array rs35474915 133 10750 0.0123721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCH2 Ser34Shift S34Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VPS13D His2171Shift H2171Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KLHDC7A Ser665Shift S665Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZMYM6 Ser31Stop S31X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NOTCH2NL Arg74Stop R74X not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POGZ Gly960Shift G960Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TCHHL1 Gln656Stop Q656X not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FMO4 Asn431Shift N431Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLT25D2 Glu505Shift E505Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HMCN1 Val1822Asp V1822D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 8 Y 3 N - - ASPM Leu3132Arg L3132R not reviewed Insufficiently evaluated not reviewed unknown Array rs36004306 384 10758 0.0356944 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ASPM Ser311Thr S311T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - CACNA1S Val1111Met V1111M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - USH2A Ala4987Val A4987V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - OR2L2 Arg265Stop R265X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK125684 Ser25Stop S25X not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MMRN2 Gln395Stop Q395X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSPAN18 Leu167Shift L167Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRP5 Ile786Met I786M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y -1 - 4 N - - MAML2 Thr101Shift T101Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAYN Asn369Shift N369Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN8A Asn1043Lys N1043K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 Y Y 1 - 4 N - - KRT6A Val493Ile V493I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - AAAS Phe431Shift F431Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SLC26A10 Arg495Stop R495X not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GNPTAB Gly483GlyGlyGly G483GGG not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - GJB2 Gly12Shift G12Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1801002 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SACS Val1991Ile V1991I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y -4 - 4 N - - LRP10 Pro358Shift P358Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYH7 Ala1332Shift A1332Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SLC12A6 Gly407Val G407V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - LCMT2 Gly381Shift G381Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TLN2 Gln1067Stop Q1067X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BLM Arg643His R643H not reviewed Insufficiently evaluated not reviewed unknown Array rs12720097 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - MVP Ser637Shift S637Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRC36 Val26Shift V26Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCA Ala1346Val A1346V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.445 Y Y 2 - 3 N - - MYO15A Arg41Cys R41C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 8 Y 3 N - - KRT10 Tyr473Ser Y473S not reviewed Insufficiently evaluated not reviewed unknown Array rs35710360 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - STXBP4 Glu102Shift E102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BRIP1 Val193Ile V193I not reviewed Insufficiently evaluated not reviewed unknown Array rs4988346 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y -4 - 2 N - - P4HB Glu412Shift E412Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LPIN2 Glu601Lys E601K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735393 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.042 Y Y 0 - 2 N - - NPC1 Asn222Ser N222S not reviewed Insufficiently evaluated not reviewed unknown Array rs55680026 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.19 Y Y 0 - 2 N - - CACNA1A Glu920Asp E920D not reviewed Insufficiently evaluated not reviewed unknown Array rs16022 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ZSWIM4 Ala660Shift A660Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - QPCTL Gln306Shift Q306Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTOF Thr547Met T547M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 2 - 4 N - - NPHP1 Arg5Leu R5L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 6 Y 4 N - - SCN9A Asp1908Gly D1908G not reviewed Insufficiently evaluated not reviewed unknown Array rs3750904 53 9978 0.00531169 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Arg25262Gln R25262Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ABCA12 Met1317Val M1317V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y 0 - 4 N - - DES Arg383Shift R383Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - FER1L4 Asn75Shift N75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RNF114 Gly10Shift G10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CSTF1 Ser383Stop S383X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EDN3 Ala222Thr A222T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y Y 1 - 2 N - - PBRM1 Ser620Shift S620Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C3ORF25 Phe12Shift F12Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IFT80 Ile437Shift I437Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP13A5 Gln355Stop Q355X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TNK2 Glu579Shift E579Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DLG1 Val374Shift V374Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRK4 Gln173Stop Q173X not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HTT Pro2081Leu P2081L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 7 Y 4 N - - CNGA1 Tyr166Shift Y166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - UBA6 Glu13Shift E13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VCAN Arg2697Cys R2697C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.476 Y Y 8 Y 3 N - - NSD1 Arg1696Shift R1696Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - DSP Ile305Phe I305F not reviewed Insufficiently evaluated not reviewed unknown Array rs17604693 306 10758 0.0284439 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.912 Y Y 2 - 4 N - - TMEM14C Val105Shift V105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZSCAN16 Glu190Stop E190X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HLA-DQA1 Ala183Ser A183S not reviewed Insufficiently evaluated not reviewed unknown Array rs41561312 4 7510 0.000532623 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TULP1 Ala496Thr A496T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.015 Y Y 1 - 2 N - - SYNE1 Gly8682Arg G8682R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.754 Y Y 6 Y 3 N - - SYNE1 Pro6555Ala P6555A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 2 - 2 N - - HIP1 Phe355Shift F355Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL1A2 Pro848Shift P848Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ATG9B Arg251Shift R251Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LMBR1 Thr376Shift T376Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF596 Arg408Stop R408X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZFHX4 Tyr655Stop Y655X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TAF2 Val287Shift V287Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRHPR Phe230Leu F230L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.045 Y Y 0 - 2 N - - ALDH1B1 Gly193Shift G193Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - P2RY4 Trp348Stop W348X not reviewed Insufficiently evaluated not reviewed unknown Array rs41310667 118 8761 0.0134688 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MED12 Gln2119GlnHisGlnGlnGln Q2119QHQQQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - MECP2 Arg223Ser R223S not reviewed Insufficiently evaluated not reviewed unknown Array rs61749731 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TNFRSF14 Arg239His R239H not reviewed Insufficiently evaluated not reviewed unknown Array rs2234160 3 122 0.0245902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAMTA1 Glu663Asp E663D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - -2 - 1 N - - EXOSC10 Arg702His R702H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXOSC10 Glu74Lys E74K not reviewed Insufficiently evaluated not reviewed unknown Array rs62623443 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - FBXO44 Leu180Arg L180R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 6 Y 2 N - - PRAMEF2 Pro77Ala P77A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_201628 Thr469Met T469M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10324 0.0025184 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - TAS1R2 Ile595Thr I595T not reviewed Insufficiently evaluated not reviewed unknown Array rs36014751 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBR4 Asn4957Ser N4957S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - HSPG2 Ala2274Thr A2274T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - TCEA3 Glu88Gly E88G not reviewed Insufficiently evaluated not reviewed unknown Array 34 9612 0.00353725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - CATSPER4 Leu145Pro L145P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.898 - - 7 Y 2 N - - AIM1L Thr383Ile T383I not reviewed Insufficiently evaluated not reviewed unknown Array 111 10758 0.0103179 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 3 - 2 N - - MATN1 Arg331His R331H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 2 N - - KIAA1522 Pro337Ser P337S not reviewed Insufficiently evaluated not reviewed unknown Array rs41306613 294 10090 0.0291378 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1522 Arg572Trp R572W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AKR1A1 Pro223Arg P223R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.145 - - 5 Y 0 N - - SLC5A9 Lys638Asn K638N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MSH4 Tyr589Cys Y589C not reviewed Insufficiently evaluated not reviewed unknown Array rs5745459 74 10680 0.00692884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - RBMXL1 Lys9Asn K9N not reviewed Insufficiently evaluated not reviewed unknown Array rs74100106 964 10758 0.0896077 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ABCA4 Glu1666Asp E1666D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.19 Y - -2 - 1 N - - OVGP1 Arg571His R571H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 1 - 1 N - - CD101 Val839Ile V839I not reviewed Insufficiently evaluated not reviewed unknown Array rs17229382 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -4 - 0 N - - PDE4DIP Arg2052Gln R2052Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2798851 211 10754 0.0196206 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - PDE4DIP Leu1272Phe L1272F not reviewed Insufficiently evaluated not reviewed unknown Array rs1747960 124 10752 0.0115327 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - MTMR11 Ser610Tyr S610Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEKHO1 Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41264971 73 10752 0.00678943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - POU5F1P4 Arg194Gln R194Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMF1 Val180Ile V180I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VHLL Ile58Thr I58T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - CD1D Ala118Ser A118S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SPTA1 Gly1497Glu G1497E not reviewed Insufficiently evaluated not reviewed unknown Array rs41273523 111 10050 0.0110448 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITLN2 Asn260Ser N260S not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ALDH9A1 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 71 10488 0.00676964 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y - -3 - 2 N - - ADCY10 Asn1438Ser N1438S not reviewed Insufficiently evaluated not reviewed unknown Array rs41270737 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GPR52 Arg355Trp R355W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - KIF21B Val1196Ile V1196I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NAV1 Ser1200Gly S1200G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CR1 Arg105Cys R105C not reviewed Insufficiently evaluated not reviewed unknown Array rs11587944 79 9700 0.00814433 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SERTAD4 Pro56Gln P56Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - GPATCH2 Gln224Glu Q224E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - -2 - 0 N - - HHIPL2 Leu263Val L263V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 0 - 1 N - - HEATR1 Asp1279Asn D1279N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - -1 - 1 N - - HEATR1 Gln424Arg Q424R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10720 0.00027985 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - SDCCAG8 Thr355Asn T355N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - OR2T1 Arg188His R188H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 1 - 0 N - - AKR1C3 Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC6A5 Glu520Lys E520K not reviewed Insufficiently evaluated not reviewed unknown Array rs34821949 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - GAD2 Met251Val M251V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.179 - - 0 - 0 N - - BMS1 Tyr283Cys Y283C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACR2 Arg65His R65H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RGR His156Asn H156N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PANK1 Arg274Trp R274W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SFRP5 Asp239Asn D239N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - -1 - 1 N - - PKD2L1 Tyr564Cys Y564C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - GBF1 Arg808His R808H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLK Ser779Leu S779L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10002 0.00039992 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 6 Y 2 N - - VWA2 His456Tyr H456Y not reviewed Insufficiently evaluated not reviewed unknown Array 74 10756 0.00687988 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - -1 - 1 N - - NSMCE4A Pro231Ser P231S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.531 - - 3 - 1 N - - MKI67 Thr1387Pro T1387P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 4 Y 2 N - - MGMT His85Tyr H85Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - MUC5AC Pro2165Leu P2165L not reviewed Insufficiently evaluated not reviewed unknown Array rs55669609 412 10012 0.0411506 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR51Q1 Val217Met V217M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - DNHD1 Lys378Asn K378N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 1 N - - NLRP10 Lys161Glu K161E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MICALCL Arg222Cys R222C not reviewed Insufficiently evaluated not reviewed unknown Array 53 9870 0.00536981 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - ACCS Ala347Pro A347P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 2 - 1 N - - OR4A5 Tyr58Cys Y58C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - MPEG1 Thr164Ile T164I not reviewed Insufficiently evaluated not reviewed unknown Array 13 9738 0.00133498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - TCN1 Arg35His R35H not reviewed Insufficiently evaluated not reviewed unknown Array rs34528912 317 10756 0.0294719 4 0 5 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - MS4A14 Pro250Ser P250S not reviewed Insufficiently evaluated not reviewed unknown Array 229 10756 0.0212904 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - ZBTB3 Pro442Arg P442R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 5 Y 2 N - - SART1 Glu394Val E394V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 5 Y 2 N - - CD248 Ala486Thr A486T not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC29A2 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - ACTN3 Arg858Cys R858C not reviewed Insufficiently evaluated not reviewed unknown Array rs71457732 84 10116 0.00830368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CORO1B Ala418Thr A418T not reviewed Insufficiently evaluated not reviewed unknown Array rs11601245 79 9562 0.00826187 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UNC93B1 Pro209Leu P209L not reviewed Insufficiently evaluated not reviewed unknown Array 22 10176 0.00216195 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC93B1 Leu129Ile L129I not reviewed Insufficiently evaluated not reviewed unknown Array 24 10582 0.002268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SUV420H1 Asn465Lys N465K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHANK2 Tyr372Cys Y372C not reviewed Insufficiently evaluated not reviewed unknown Array rs62622853 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEU3 Thr356Pro T356P not reviewed Insufficiently evaluated not reviewed unknown Array 13 10490 0.00123927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NCAM1 Asp258Asn D258N not reviewed Insufficiently evaluated not reviewed unknown Array rs17115160 104 10090 0.0103072 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APOA4 Asn127Lys N127K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10730 0.00251631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMPRSS13 Arg372Trp R372W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC104851 Ala102Glu A102E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGSF9B Ala1279Thr A1279T not reviewed Insufficiently evaluated not reviewed unknown Array 136 9764 0.0139287 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - B4GALNT3 Gly752Val G752V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.849 - - 8 Y 1 N - - NINJ2 Lys143Arg K143R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RAD52 Ala352Asp A352D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 5 Y 0 N - - CACNA2D4 Ala730Val A730V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10454 0.000573942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - SPSB2 Arg236Cys R236C not reviewed Insufficiently evaluated not reviewed unknown Array rs61733180 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.875 - - 8 Y 2 N - - A2M Arg360Gln R360Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229298 16 9662 0.00165597 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - DDX47 Glu5Lys E5K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - DENND5B His336Tyr H336Y not reviewed Insufficiently evaluated not reviewed unknown Array 25 9954 0.00251155 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.869 - - -1 - 2 N - - SYT10 His488Pro H488P not reviewed Insufficiently evaluated not reviewed unknown Array rs34190017 170 10758 0.0158022 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALG10B Ile446Val I446V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730283 151 10756 0.0140387 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HDAC7 Gly432Val G432V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - 8 Y 1 N - - ADCY6 Gly856Val G856V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADCY6 Leu239Val L239V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LASS5 Ala90Thr A90T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD33 Cys94Phe C94F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRT83 Cys423Ser C423S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - KRT83 Ala223Thr A223T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - RDH16 Met253Val M253V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10382 0.00134849 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL26 Met90Ile M90I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - -1 - 2 N - - NAV3 Cys2155Tyr C2155Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NAV3 Arg2219Gln R2219Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACSS3 Lys128Thr K128T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10754 0.00297564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.418 - - 3 - 1 N - - NR1H4 Met173Thr M173T not reviewed Insufficiently evaluated not reviewed unknown Array rs61755050 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPV4 Ile571Met I571M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y - -1 - 1 N - - TRPV4 Ala217Ser A217S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y - -1 - 1 N - - VPS29 Asn70Ser N70S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC63 Ile481Leu I481L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ACAD10 Gln854His Q854H not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.173 - - -1 - 0 N - - DDX54 Pro822Leu P822L not reviewed Insufficiently evaluated not reviewed unknown Array rs1048889 450 10754 0.0418449 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VSIG10 Gly445Arg G445R not reviewed Insufficiently evaluated not reviewed unknown Array 41 9666 0.00424167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - 6 Y 1 N - - SRRM4 Arg582Pro R582P not reviewed Insufficiently evaluated not reviewed unknown Array 61 8346 0.00730889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CLIP1 Ala1213Ser A1213S not reviewed Insufficiently evaluated not reviewed unknown Array rs17881033 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TCTN2 Trp389Arg W389R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - STX2 Ile81Val I81V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10750 0.000465116 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -4 - 2 N - - SKA3 Arg396Met R396M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - ATP12A Gly515Ser G515S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740542 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP12A Gln711Lys Q711K not reviewed Insufficiently evaluated not reviewed unknown Array rs61998252 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HSPH1 Arg781His R781H not reviewed Insufficiently evaluated not reviewed unknown Array rs73171026 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM48A Phe720Cys F720C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AKAP11 Phe1318Cys F1318C not reviewed Insufficiently evaluated not reviewed unknown Array rs61757547 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARL11 Pro131Leu P131L not reviewed Insufficiently evaluated not reviewed unknown Array 260 10758 0.0241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 7 Y 2 N - - C13ORF34 Cys324Ser C324S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC39A2 His154Gln H154Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR10G3 Tyr105Cys Y105C not reviewed Insufficiently evaluated not reviewed unknown Array rs45612332 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - PRKD1 Asn818Ser N818S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR5A Pro1528Arg P1528R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CGRRF1 Val194Met V194M not reviewed Insufficiently evaluated not reviewed unknown Array 286 10748 0.0266096 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - C14ORF37 Glu214Ala E214A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARID4A Asn736Asp N736D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - -1 - 0 N - - SYNE2 Met1214Lys M1214K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - 4 Y 0 N - - AKAP5 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DCAF4 Arg447Cys R447C not reviewed Insufficiently evaluated not reviewed unknown Array rs35481507 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 8 Y 0 N - - PAPLN Ala191Val A191V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP4R4 Arg733Cys R733C not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - AHNAK2 Lys3967Arg K3967R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - -3 - 2 N - - AHNAK2 Gly3947Ser G3947S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Glu1685Ala E1685A not reviewed Insufficiently evaluated not reviewed unknown Array rs34752012 136 9884 0.0137596 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - X58398 Thr88Ile T88I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRPM1 Glu1281Gln E1281Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -2 - 0 N - - STARD9 His759Arg H759R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STARD9 Phe1169Ser F1169S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TP53BP1 Glu685Gly E685G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.917 - - 6 Y 2 N - - AP4E1 Met1011Ile M1011I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - WDR72 Val314Ala V314A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - FAM63B Gly104Glu G104E not reviewed Insufficiently evaluated not reviewed unknown Array 9 10436 0.000862399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - VPS13C Thr1388Ala T1388A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - TLN2 SerGly461ArgArg SG461RR not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF609 Thr1195Met T1195M not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KBTBD13 Gly30Asp G30D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RASGRF1 Val886Ile V886I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1199 Ala225Val A225V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - TMC3 Asn486Lys N486K not reviewed Insufficiently evaluated not reviewed unknown Array 56 9980 0.00561122 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANPEP Pro454Leu P454L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SYNM Glu611Ala E611A not reviewed Insufficiently evaluated not reviewed unknown Array rs5030692 83 10152 0.00817573 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYNM Gln975Arg Q975R not reviewed Insufficiently evaluated not reviewed unknown Array rs5030695 66 10112 0.0065269 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNM Asp1293Asn D1293N not reviewed Insufficiently evaluated not reviewed unknown Array 79 10334 0.00764467 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPSB3 Ala26Ser A26S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C16ORF89 Gln124Pro Q124P not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TEKT5 Ser11Gly S11G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - ITPRIPL2 Gly242Ala G242A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - SPN Ala266Val A266V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRCAP Pro1059Leu P1059L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK125843 Pro219Ala P219A not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RLTPR Ser1420Asn S1420N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.18 - - 0 - 0 N - - LCAT Arg280His R280H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 1 N - - CHST4 Arg360Cys R360C not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - 8 Y 2 N - - ZFHX3 Pro107Leu P107L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10718 9.33e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - ZFP1 Glu23Gln E23Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10624 0.00254141 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - CFDP1 Ser10Phe S10F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WWOX Val246Ala V246A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - PKD1L2 Arg2251Trp R2251W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10122 0.000197589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PKD1L2 Ser1918Asn S1918N not reviewed Insufficiently evaluated not reviewed unknown Array 53 10342 0.00512473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCMO1 Ala530Thr A530T not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - IRF8 Gly139Ser G139S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD11 Asp1696Glu D1696E not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - FAM64A Arg179Trp R179W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NEURL4 Ala893Val A893V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10376 0.00173477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - DNAH2 Ile4062Leu I4062L not reviewed Insufficiently evaluated not reviewed unknown Array 242 10758 0.0224949 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.287 - - -2 - 1 N - - DNAH2 Leu4101Phe L4101F not reviewed Insufficiently evaluated not reviewed unknown Array 241 10758 0.0224019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CDRT1 Arg627Gln R627Q not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SREBF1 Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC47A1 Cys497Phe C497F not reviewed Insufficiently evaluated not reviewed unknown Array rs35395280 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.206 - - 4 Y 1 N - - ALDH3A1 Ala351Val A351V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO18A Ala519Val A519V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10222 9.7828e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 2 - 0 N - - SSH2 Ser637Gly S637G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRT25 Glu239Ala E239A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - EZH1 Pro78Thr P78T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 4 Y 0 N - - ABCC3 Arg923Gln R923Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34502058 46 10730 0.00428704 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.211 - - 0 - 1 N - - MRPS7 Ala16Val A16V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10752 0.00483631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EVPL Gln75Arg Q75R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10714 0.000560014 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL832652 Phe1314Leu F1314L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D16 Glu162Lys E162K not reviewed Insufficiently evaluated not reviewed unknown Array 127 10706 0.0118625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - NPTX1 Leu184Pro L184P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 7 Y 1 N - - HGS Met556Thr M556T not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - FN3KRP Val223Ile V223I not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.738 - - -4 - 1 N - - NDC80 Gly428Val G428V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - LAMA1 Pro3049Leu P3049L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.067 - - 7 Y 0 N - - LAMA1 Asn1956Ser N1956S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - RALBP1 Asp608Val D608V not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 8 Y 0 N - - RIT2 Gly158Val G158V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C19ORF21 Arg556His R556H not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP8B3 Ser494Leu S494L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10718 9.33e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - IZUMO4 Arg198Gly R198G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10448 0.00133997 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.62 - - 6 Y 1 N - - ZNF555 Ala504Thr A504T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.32 - - 1 - 1 N - - ZNF57 Arg297Lys R297K not reviewed Insufficiently evaluated not reviewed unknown Array rs61754927 254 10758 0.0236103 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -3 - 0 N - - APBA3 Arg434Cys R434C not reviewed Insufficiently evaluated not reviewed unknown Array 154 10286 0.0149718 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - FBN3 Thr614Ile T614I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr9661Ala T9661A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANGPTL6 Arg452Cys R452C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF799 Thr142Met T142M not reviewed Insufficiently evaluated not reviewed unknown Array rs12974755 1244 10758 0.115635 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR10H5 Lys186Gln K186Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61741438 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -2 - 1 N - - MAST3 Val1299Met V1299M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10218 9.7866e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - WDR88 Ala171Gly A171G not reviewed Insufficiently evaluated not reviewed unknown Array 517 10758 0.0480573 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 1 - 1 N - - C19ORF46 Arg167Trp R167W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DPF1 Lys172Asn K172N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 1 N - - CAPN12 Gly351Trp G351W not reviewed Insufficiently evaluated not reviewed unknown Array 76 10710 0.00709617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.824 - - 7 Y 1 N - - SUPT5H Glu106Gln E106Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - PSG3 Leu391Arg L391R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 6 Y 0 N - - BC034980 Glu580Ala E580A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLAUR Met268Val M268V not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.621 - - 0 - 1 N - - ZNF285A His558Gln H558Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF285A Ala557Val A557V not reviewed Insufficiently evaluated not reviewed unknown Array rs72483766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF180 Ile279Thr I279T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10752 0.00809152 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 3 - 0 N - - FUT2 Gly301Arg G301R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - RCN3 Thr244Met T244M not reviewed Insufficiently evaluated not reviewed unknown Array rs62128091 10 10750 0.000930232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 2 - 2 N - - LRRC4B Val207Ile V207I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10634 0.000846341 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZNF468 Glu471Gly E471G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - VSTM1 Leu47Val L47V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - PPP6R1 Val286Met V286M not reviewed Insufficiently evaluated not reviewed unknown Array 55 10432 0.00527224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.568 - - 0 - 1 N - - COLEC11 Asn206Asp N206D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - -1 - 1 N - - ADAM17 Ser747Leu S747L not reviewed Insufficiently evaluated not reviewed unknown Array rs55796712 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - APOB Val730Ile V730I not reviewed Insufficiently evaluated not reviewed unknown Array rs12691202 262 10758 0.024354 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GPAT2 Ser636Phe S636F not reviewed Insufficiently evaluated not reviewed unknown Array rs11693649 151 10028 0.0150578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 5 Y 0 N - - AK131289 Arg231Lys R231K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IL1RL1 Ala153Val A153V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGPD4 Asn144Ser N144S not reviewed Insufficiently evaluated not reviewed unknown Array 1 30 0.0333333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CKAP2L Arg729Cys R729C not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.691 - - 8 Y 1 N - - MYO7B Pro626His P626H not reviewed Insufficiently evaluated not reviewed unknown Array 25 9966 0.00250853 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 5 Y 0 N - - UGGT1 Lys1283Glu K1283E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYPD6B Leu206Met L206M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10286 0.000486097 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FIGN Pro211Ser P211S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10258 0.000292454 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - HOXD3 Thr16Arg T16R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 3 - 0 N - - HOXD3 Met17Arg M17R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - PDE11A Tyr727Cys Y727C not reviewed Insufficiently evaluated not reviewed unknown Array rs17400325 295 10758 0.0274215 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - DNAJC10 Tyr414Cys Y414C not reviewed Insufficiently evaluated not reviewed unknown Array rs11681366 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ASNSD1 Ile424Thr I424T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH7 Arg2466Cys R2466C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10044 0.000896057 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AOX1 Asn826Ser N826S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ICA1L Gln303His Q303H not reviewed Insufficiently evaluated not reviewed unknown Array 55 10756 0.00511343 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CYP20A1 Ile353Met I353M not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - PARD3B Glu849Gly E849G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF67 Asn660Ser N660S not reviewed Insufficiently evaluated not reviewed unknown Array 307 10726 0.028622 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP37 Thr323Ala T323A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCS1L Val205Ile V205I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - STK36 Asp415Glu D415E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.328 - - -2 - 1 N - - ZFAND2B Pro71His P71H not reviewed Insufficiently evaluated not reviewed unknown Array rs61750009 326 10758 0.030303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - STK11IP Arg685His R685H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - STK11IP Ser813Arg S813R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10574 0.000756572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - KIAA1486 Ala621Val A621V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - 2 - 1 N - - SPHKAP Arg406Ser R406S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 2 N - - PER2 Thr1196Met T1196M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.571 - - 2 - 1 N - - NR_024014 Gly181Ala G181A not reviewed Insufficiently evaluated not reviewed unknown Array rs3749127 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF54 Val42Met V42M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10472 0.00238732 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM110A Pro158Thr P158T not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 1 N - - SIRPB2 Leu25Phe L25F not reviewed Insufficiently evaluated not reviewed unknown Array 5 7820 0.000639386 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - SIRPD Pro58Ser P58S not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - TGM6 Val168Met V168M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.156 - - 0 - 0 N - - ASXL1 Gly1396Ser G1396S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC111383 Leu117Pro L117P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHX35 Ile189Thr I189T not reviewed Insufficiently evaluated not reviewed unknown Array rs36053162 334 10758 0.0310467 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.548 - - 3 - 1 N - - CHD6 Arg2389Cys R2389C not reviewed Insufficiently evaluated not reviewed unknown Array rs61752057 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - IFT52 Asp259His D259H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - SERINC3 Tyr150Cys Y150C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 6 Y 2 N - - LAMA5 Arg2456His R2456H not reviewed Insufficiently evaluated not reviewed unknown Array rs2427282 204 10626 0.0191982 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLCO4A1 Ser693Leu S693L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - C21ORF91 Leu227Val L227V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLDN17 Gln193Arg Q193R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC3 Ser965Thr S965T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -2 - 0 N - - COL18A1 ArgPro200SerSer RP200SS not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - LSS Arg116Cys R116C not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.487 - - 8 Y 1 N - - PCNT Lys1455Asn K1455N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.514 - - 1 - 1 N - - CU013362 Arg84Lys R84K not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PEX26 Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PRODH Val427Met V427M not reviewed Insufficiently evaluated not reviewed unknown Array rs2238731 398 10752 0.0370164 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - CRYBB3 Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17670506 510 10758 0.0474066 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THOC5 Ile556Val I556V not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC35E4 Val18Ala V18A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFI1 Gln912Pro Q912P not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - NCF4 Asp254Glu D254E not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.567 - - -2 - 1 N - - CSF2RB Gly464Asp G464D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 4 Y 2 N - - EFCAB6 Pro706Leu P706L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - BC036832 Arg16His R16H not reviewed Insufficiently evaluated not reviewed unknown Array rs12484634 10 3234 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC036832 Thr108Ile T108I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MOV10L1 His701Gln H701Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - -1 - 1 N - - SBF1 Thr1599Arg T1599R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - SETMAR Asp113Gly D113G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KCNH8 Thr278Lys T278K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - EOMES Gln6Glu Q6E not reviewed Insufficiently evaluated not reviewed unknown Array 47 9626 0.00488261 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.929 - - -2 - 2 N - - VILL Ser660Cys S660C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.652 - - 3 - 1 N - - RPL14 Pro144Leu P144L not reviewed Insufficiently evaluated not reviewed unknown Array rs7556 288 10394 0.0277083 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ULK4 Asn796Ser N796S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745795 171 10212 0.016745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHISA5 Pro236Leu P236L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - BSN Gly1213Asp G1213D not reviewed Insufficiently evaluated not reviewed unknown Array rs35762866 833 10690 0.0779233 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 4 Y 0 N - - UBA7 Asp393Asn D393N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC38A3 Ile422Phe I422F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NISCH GluGluGluGlu676Del EEEE676Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CADPS Thr874Ser T874S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -2 - 2 N - - C3ORF64 Arg321Gly R321G not reviewed Insufficiently evaluated not reviewed unknown Array rs35545453 107 10754 0.00994979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF654 Ser374Ala S374A not reviewed Insufficiently evaluated not reviewed unknown Array rs61730544 68 9548 0.00712191 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - EPHA6 Ala805Val A805V not reviewed Insufficiently evaluated not reviewed unknown Array rs4857276 54 9522 0.00567108 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5K3 Gly266Glu G266E not reviewed Insufficiently evaluated not reviewed unknown Array rs73854831 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - ST3GAL6 Asp82Gly D82G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 4 Y 0 N - - ZNF80 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADPRH Ala70Gly A70G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - POLQ Ser962Gly S962G not reviewed Insufficiently evaluated not reviewed unknown Array rs3218636 259 10746 0.024102 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CASR Thr445Ala T445A not reviewed Insufficiently evaluated not reviewed unknown Array rs12493789 24 10758 0.0022309 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 1 - 1 N - - COL6A5 Arg1742Trp R1742W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PIK3R4 Pro919Leu P919L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 7 Y 0 N - - ZBTB38 Thr615Met T615M not reviewed Insufficiently evaluated not reviewed unknown Array rs17787670 60 10040 0.00597609 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - IGSF10 Ile1311Val I1311V not reviewed Insufficiently evaluated not reviewed unknown Array rs34114908 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - SI Tyr975His Y975H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCNMB3 Asn165Ser N165S not reviewed Insufficiently evaluated not reviewed unknown Array rs55710741 4 124 0.0322581 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.786 - - 0 - 1 N - - NDUFB5 Glu177Asp E177D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -2 - 0 N - - MCCC1 Asn85Thr N85T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.829 Y - 1 - 2 N - - ATP13A5 Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.596 - - 0 - 1 N - - MUC20 Val325Ile V325I not reviewed Insufficiently evaluated not reviewed unknown Array rs4093817 107 10678 0.0100206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SENP5 His303Tyr H303Y not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPON2 Leu19Gln L19Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HGFAC Gly214Cys G214C not reviewed Insufficiently evaluated not reviewed unknown Array rs41264743 104 10654 0.00976159 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - OTOP1 Leu552Phe L552F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - MAN2B2 Thr892Met T892M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729241 511 10758 0.0474995 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSAPL1 Ala267Ser A267S not reviewed Insufficiently evaluated not reviewed unknown Array rs3796905 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABLIM2 Lys171Arg K171R not reviewed Insufficiently evaluated not reviewed unknown Array rs34049746 10 9968 0.00100321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PROM1 Ser19Ala S19A not reviewed Insufficiently evaluated not reviewed unknown Array 60 10086 0.00594884 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - FAM114A1 Arg367His R367H not reviewed Insufficiently evaluated not reviewed unknown Array rs2306923 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - RPL9 Arg125Ser R125S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.23 - - 3 - 1 N - - N4BP2 Glu635Val E635V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10740 0.00111732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 5 Y 2 N - - OCIAD1 Ser213Phe S213F not reviewed Insufficiently evaluated not reviewed unknown Array 48 10752 0.00446428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AASDH Ile951Thr I951T not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 3 - 0 N - - UGT2A3 Phe494Val F494V not reviewed Insufficiently evaluated not reviewed unknown Array rs62641707 236 10758 0.0219372 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - UGT2B11 Leu164Val L164V not reviewed Insufficiently evaluated not reviewed unknown Array 243 10754 0.0225962 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.21 - - 0 - 1 N - - FRAS1 Arg269Gln R269Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10462 0.00258077 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ARHGAP24 Thr481Met T481M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - HERC6 Gly210Arg G210R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATOH1 His237Gln H237Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35182771 77 10748 0.00716412 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - -1 - 2 N - - TET2 Gln1084Pro Q1084P not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - 4 Y 1 N - - SEC24B Asp590Asn D590N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RRH Asp326Asn D326N not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ELF2 Thr138Ala T138A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM160A1 Gln502Lys Q502K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - -2 - 1 N - - PLEKHG4B Arg595Trp R595W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10656 0.000375375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - PARP8 Glu447Lys E447K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 0 - 2 N - - IL6ST Ala873Val A873V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ERAP1 Asp406Asn D406N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BC112077 Arg102Trp R102W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 7 Y 1 N - - SAR1B Arg191His R191H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - TMCO6 Ala234Asp A234D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PCDHB3 Arg430Lys R430K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - -3 - 0 N - - PCDHB14 Thr99Asn T99N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAT2 His1623Arg H1623R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - GEMIN5 Ala1065Val A1065V not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GABRA6 Thr187Met T187M not reviewed Insufficiently evaluated not reviewed unknown Array rs3811993 99 10754 0.00920588 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - AX747879 Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BTN3A2 Met63Thr M63T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - BTN2A3 Leu575Ile L575I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIST1H2AL Asn111Ser N111S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF39 Pro260Ala P260A not reviewed Insufficiently evaluated not reviewed unknown Array rs61754472 44 5690 0.00773286 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPCR1 Thr124Met T124M not reviewed Insufficiently evaluated not reviewed unknown Array 5 128 0.0390625 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNXB Asp1218Glu D1218E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - NUDT3 Ser138Pro S138P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - MAPK14 Asp343Gly D343G not reviewed Insufficiently evaluated not reviewed unknown Array rs45496794 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - PNPLA1 Glu154Lys E154K not reviewed Insufficiently evaluated not reviewed unknown Array rs45524833 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXP4 Met591Ile M591I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10736 0.000186289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -1 - 0 N - - TRERF1 Val994Ile V994I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -4 - 0 N - - CAPN11 His18Gln H18Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLIC5 Ala273Glu A273E not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - 3 - 2 N - - SNX14 Ser303Arg S303R not reviewed Insufficiently evaluated not reviewed unknown Array rs41271629 229 10738 0.0213261 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIM1 Arg665His R665H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.986 Y - 1 - 3 N - - FAM26F Met254Ile M254I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - BET3L Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RSPH4A Arg88Leu R88L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - Y 6 Y 1 N - - KPNA5 Ser16Asn S16N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFX6 Val329Ile V329I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10744 0.0003723 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - SMPDL3A His16Tyr H16Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12523814 17 8100 0.00209876 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF192 Ser30Pro S30P not reviewed Insufficiently evaluated not reviewed unknown Array rs41286192 247 10758 0.0229597 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAP7 Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NMBR Ala197Val A197V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF103 Arg848His R848H not reviewed Insufficiently evaluated not reviewed unknown Array 20 3234 0.00618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C6ORF211 Tyr353His Y353H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TIAM2 Ile1590Asn I1590N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.589 - - 7 Y 1 N - - AK001769 Asn28Lys N28K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNASET2 Leu141Val L141V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.567 - - 0 - 1 N - - C7ORF26 Gly440Cys G440C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WBSCR27 Ala36Val A36V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.971 - - 2 - 2 N - - CROT His225Tyr H225Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - PDK4 Asn187Ser N187S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZAN Asn1099Del N1099Del not reviewed Insufficiently evaluated not reviewed unknown Array rs117092215 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC17 Val2172Leu V2172L not reviewed Insufficiently evaluated not reviewed unknown Array 335 10758 0.0311396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Ser2175Thr S2175T not reviewed Insufficiently evaluated not reviewed unknown Array 302 10758 0.0280721 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RINT1 His126Tyr H126Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - PIK3CG Pro534Arg P534R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - COG5 His452Arg H452R not reviewed Insufficiently evaluated not reviewed unknown Array rs35393416 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - C7ORF58 Thr253Met T253M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF58 Arg941His R941H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1549 Ser1461Thr S1461T not reviewed Insufficiently evaluated not reviewed unknown Array rs61744110 60 9694 0.0061894 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIPK2 Pro1030Leu P1030L not reviewed Insufficiently evaluated not reviewed unknown Array rs35105635 39 10328 0.00377614 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HIPK2 Asn932His N932H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10434 0.000479202 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTNAP2 Leu150Ser L150S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - ZNF282 Pro281Leu P281L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - CNPY1 Pro10Ala P10A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 2 - 2 N - - RP1L1 Gln1349Leu Q1349L not reviewed Insufficiently evaluated not reviewed unknown Array rs13253053 64 9822 0.00651598 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RP1L1 GluThrGluGly1343ValIle ETEG1343VI not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLU Asn88Asp N88D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PURG Glu241Ala E241A not reviewed Insufficiently evaluated not reviewed unknown Array rs11574151 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - ANK1 Ala1462Val A1462V not reviewed Insufficiently evaluated not reviewed unknown Array rs34664882 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - Y 2 - 1 N - - TMEM70 Thr127Ala T127A not reviewed Insufficiently evaluated not reviewed unknown Array rs61734099 15 10758 0.00139431 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - GEM Asp61Glu D61E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MATN2 Ala325Val A325V not reviewed Insufficiently evaluated not reviewed unknown Array 80 9934 0.00805315 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - ENPP2 Gly329Asp G329D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND3 Gly997Arg G997R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PLEC Ala3296Thr A3296T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10144 9.858e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPATC1 Ser64Asn S64N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOCK8 Gln500Arg Q500R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1432 Ser376Arg S376R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA2026 Pro1025Leu P1025L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 7 Y 2 N - - DENND4C Gln1606Arg Q1606R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 0 - 0 N - - C9ORF24 Arg53Gln R53Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STOML2 Leu141Phe L141F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 0 - 1 N - - PHF2 Asp464Tyr D464Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF169 Arg422Ser R422S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNC Val548Met V548M not reviewed Insufficiently evaluated not reviewed unknown Array rs61729478 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOR2A Arg265Trp R265W not reviewed Insufficiently evaluated not reviewed unknown Array 222 10094 0.0219933 3 0 3 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GLE1 Glu334Lys E334K not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 3 0 3 0 0 1 Y - - - - - - - - - - - - - - 0.649 - - 0 - 1 N - - TTF1 Ala885Val A885V not reviewed Insufficiently evaluated not reviewed unknown Array rs1752676 201 10758 0.0186838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - SLC2A6 Asp243Asn D243N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10748 0.000279121 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.212 - - -1 - 1 N - - CAMSAP1 Ala476Val A476V not reviewed Insufficiently evaluated not reviewed unknown Array rs35639321 271 10758 0.0251906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - QSOX2 Thr352Met T352M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744120 53 10756 0.00492748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.716 - - 2 - 1 N - - SDCCAG3 Ala253Val A253V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10082 0.000198373 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC16A Asn1095Ser N1095S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EHMT1 Ile60Leu I60L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.027 Y - -2 - 1 N - - TSPYL2 Val632Met V632M not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX746688 Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.461 - - 0 - 1 N - - DRP2 Ile226Val I226V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ESX1 Lys193Arg K193R not reviewed Insufficiently evaluated not reviewed unknown Array rs41305431 513 8761 0.058555 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.752 - - -3 - 0 N - - ACTRT1 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array rs61732204 160 8761 0.0182628 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 2 N - - BC042039 Arg119Cys R119C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GABRD Glu400Shift E400Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PARK7 Arg98Gln R98Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71653619 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - C1ORF122 Trp102Stop W102X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPT2 Asp118Gly D118G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.987 Y Y 4 Y 4 N - - C1ORF189 Arg100Shift R100Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - F5 Asn1575Ser N1575S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - LAMC2 Ser587Asn S587N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y 0 - 2 N - - ASPM Glu385Shift E385Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CACNA1S Arg41Met R41M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - USH2A Leu555Val L555V not reviewed Insufficiently evaluated not reviewed unknown Array rs35818432 14 10758 0.00130136 1 0 1 1 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 0 - 4 N - - Reported to cause autosomal recessive retinitis pigmentosa CDH23 Val1006Met V1006M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10582 0.000378 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CDH23 Asn1979Ser N1979S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL17A1 Arg523His R523H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - C11ORF40 Lys96Shift K96Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF40 Trp32Stop W32X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UEVLD Glu448Shift E448Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CTTN Glu370Shift E370Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UVRAG Ile244Shift I244Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SORL1 Arg1286Shift R1286Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1C Ser723Thr S723T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.426 Y Y -2 - 3 N - - NCKAP1L Asn884Shift N884Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP6V0A2 Asn850Ser N850S not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - BRI3BP Pro122Shift P122Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP7B His1207Arg H1207R not reviewed Insufficiently evaluated not reviewed unknown Array rs7334118 258 10644 0.024239 4 0 4 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 1 - 4 N - - MYCBP2 Tyr1009Shift Y1009Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SERPINA10 Arg88Stop R88X not reviewed Insufficiently evaluated not reviewed unknown Array rs2232698 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FMN1 Glu892Lys E892K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9588 0.000104297 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - RAB27A Arg187Trp R187W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.933 Y - 7 Y 3 N - - ALOXE3 Arg678Cys R678C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.027 Y Y 8 Y 2 N - - KRT27 Gln367Stop Q367X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC041481 Phe380Shift F380Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSEN54 Arg490Trp R490W not reviewed Insufficiently evaluated not reviewed unknown Array 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.854 Y Y 7 Y 4 N - - SLC38A10 Arg933Stop R933X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYMPK Ala440Shift A440Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - A1BG Pro207Shift P207Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APOB Pro771Leu P771L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - ALK Asn799Ser N799S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.017 Y Y 0 - 2 N - - ALMS1 Lys1653Asn K1653N not reviewed Insufficiently evaluated not reviewed unknown Array rs28730853 134 9626 0.0139206 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALMS1 Arg1928Gln R1928Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17009061 136 9680 0.0140496 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AFF3 Ser699Shift S699Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SULT1C3 Trp36Stop W36X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PAX8 Pro269Leu P269L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TTN Arg22599His R22599H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL6A3 Val1336Ile V1336I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SIRPG Trp66Stop W66X not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACOT8 His223Shift H223Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBX6 Arg173Shift R173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC036832 Gln62Stop Q62X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GALNTL2 Arg6Stop R6X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GLB1 Arg109Trp R109W not reviewed Insufficiently evaluated not reviewed unknown Array rs35289681 150 9956 0.0150663 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SKIL Thr468Shift T468Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KLKB1 Asp379Shift D379Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VCAN Lys349Glu K349E not reviewed Insufficiently evaluated not reviewed unknown Array rs61749613 318 10752 0.0295759 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y 0 - 4 N - - SLC22A5 Leu202Pro L202P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.898 Y - 7 Y 3 N - - TCOF1 Lys1297Arg K1297R not reviewed Insufficiently evaluated not reviewed unknown Array rs55980697 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - DSP Met2819Leu M2819L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.054 Y Y -3 - 2 N - - C6ORF27 Arg835Shift R835Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CITED2 His38Shift H38Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR31 Arg301Stop R301X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCA13 Glu2062Shift E2062Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA13 Pro3518Shift P3518Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CFTR Ile1366Thr I1366T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - ASB15 Arg282Stop R282X not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RECQL4 Arg522Cys R522C not reviewed Insufficiently evaluated not reviewed unknown Array rs35407712 6 10512 0.000570776 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - GLDC Met107Val M107V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - KIAA1045 Ser353Shift S353Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGPAT2 Gly75Arg G75R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.707 Y Y 6 Y 3 N - - DMD Arg2155Trp R2155W benign Low clinical importance, Likely benign unknown Array rs1800273 236 8756 0.0269529 3 0 4 1 1 ! Y - - 5 Y 2 Y - - - - Y - - - 0.942 Y Y 7 Y 4 N 0 1 Probably benign. FRMD7 Ser438Shift S438Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 3 N - - SPANXN2 Asn24Shift N24Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCD1 Asp361Glu D361E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y -2 - 2 N - - HCFC1 Val854Shift V854Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GDI1 Ser24Phe S24F not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 5 Y 3 N - - NADK Ile288Phe I288F not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 2 - 1 N - - TAS1R1 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array rs41278020 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.555 - - 2 - 1 N - - ERRFI1 Gly68Trp G68W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 7 Y 1 N - - MTOR Arg1538Trp R1538W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - UBIAD1 Ser75Phe S75F not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 - - 5 Y 0 N - - HNRNPCL1 Glu245Asp E245D not reviewed Insufficiently evaluated not reviewed unknown Array 1 62 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPEN Asn1856Ser N1856S not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CROCC Ser545Asn S545N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - CROCC Arg1512Gln R1512Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10752 0.00204613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGSF21 Pro434Ser P434S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - RHD Val245Leu V245L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9752 0.000410172 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF172 Phe219Leu F219L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL16A1 Pro758Ala P758A not reviewed Insufficiently evaluated not reviewed unknown Array rs34976864 216 10094 0.0213988 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP7D1 Arg201Gln R201Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10724 0.00139873 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - EPHA10 Arg618His R618H not reviewed Insufficiently evaluated not reviewed unknown Array 40 10224 0.00391236 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - RLF Pro1608Ala P1608A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 2 - 1 N - - CCDC30 Gly103Arg G103R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM53 Val182Ile V182I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CCDC17 Ile525Val I525V not reviewed Insufficiently evaluated not reviewed unknown Array rs2297654 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.151 - - -4 - 0 N - - NSUN4 Ser140Gly S140G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.935 - - 2 - 2 N - - CC2D1B Arg543Gln R543Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - TMEM48 Ala10Pro A10P not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C1ORF177 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OMA1 Trp25Arg W25R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.596 - - 7 Y 1 N - - ZZZ3 Ile213Val I213V not reviewed Insufficiently evaluated not reviewed unknown Array rs34535037 131 10758 0.012177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - RPF1 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10746 0.00316397 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RBMXL1 Leu170Pro L170P not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GBP1 Val301Ile V301I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VAV3 Trp25Arg W25R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - FNDC7 Met214Val M214V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DENND2C Arg581Cys R581C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PTGFRN Glu493Val E493V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.482 - - 5 Y 1 N - - KPRP Cys230Ser C230S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SHC1 Arg369Trp R369W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - KCNJ10 Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.454 - - 0 - 1 N - - ITLN2 His61Pro H61P not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DCAF6 Val256Leu V256L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - TNN Arg440Ser R440S not reviewed Insufficiently evaluated not reviewed unknown Array rs6664276 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - C1ORF125 Ala868Thr A868T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10748 0.00232601 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IVNS1ABP Ser630Pro S630P not reviewed Insufficiently evaluated not reviewed unknown Array rs35647906 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - LAX1 Arg64Gln R64Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41264259 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 2 N - - SLC35F3 Arg129Gly R129G not reviewed Insufficiently evaluated not reviewed unknown Array rs34032258 5 10754 0.000464943 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZP4 Ser277Gly S277G not reviewed Insufficiently evaluated not reviewed unknown Array rs36017138 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.674 - - 2 - 1 N - - OR2W3 Ser156Del S156Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2L3 Ser82Pro S82P not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 1 N - - OR2M3 Ala216Thr A216T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRKCQ Lys555Glu K555E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - TAF3 Ser349Thr S349T not reviewed Insufficiently evaluated not reviewed unknown Array rs17366712 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.33 - - -2 - 1 N - - CUBN Glu2968Gln E2968Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45569534 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - ST8SIA6 Pro354His P354H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DQ575272 Gly154Ser G154S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - SIRT1 Pro114Gln P114Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 8226 0.00267445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 4 Y 0 N - - EXOC6 Gln559Arg Q559R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10746 0.000465289 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBP4 Gly52Val G52V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - HPS6 Ala597Pro A597P not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.028 - Y 2 - 1 N - - C10ORF79 Pro439Leu P439L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C10ORF79 Thr400Ile T400I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GSTO1 Ala236Val A236V not reviewed Insufficiently evaluated not reviewed unknown Array rs11509439 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.476 - - 2 - 1 N - - SMC3 Glu688Gln E688Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - -2 - 0 N - - RAB11FIP2 Pro437Leu P437L not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SEC23IP Thr413Ala T413A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - 1 - 1 N - - CTBP2 Pro53Ser P53S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DPYSL4 Pro309Gln P309Q not reviewed Insufficiently evaluated not reviewed unknown Array 145 10756 0.0134808 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - LRRC27 Ala209Val A209V not reviewed Insufficiently evaluated not reviewed unknown Array rs12411979 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC5AC Thr3714Met T3714M not reviewed Insufficiently evaluated not reviewed unknown Array 428 10246 0.0417724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRPM5 Arg360Cys R360C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10708 9.3388e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OR6A2 Val230Met V230M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZNF214 Leu514Phe L514F not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERGEF Tyr416Cys Y416C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SAAL1 Arg453Cys R453C not reviewed Insufficiently evaluated not reviewed unknown Array rs35394666 198 10756 0.0184083 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HPS5 Pro564Ser P564S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 - Y 3 - 1 N - - NAV2 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAV2 Gly352Ser G352S not reviewed Insufficiently evaluated not reviewed unknown Array rs61751935 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANO5 Asn52Ser N52S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - ELP4 Ser394Thr S394T not reviewed Insufficiently evaluated not reviewed unknown Array rs3026404 57 9772 0.00583299 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - -2 - 1 N - - QSER1 Ile1109Thr I1109T not reviewed Insufficiently evaluated not reviewed unknown Array 7 9732 0.000719276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - LRRC55 Gly78Ser G78S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5B2 Leu46Gln L46Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.885 - - 5 Y 2 N - - ZFP91 Ala67Thr A67T not reviewed Insufficiently evaluated not reviewed unknown Array 34 6272 0.00542092 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SF3B2 Ala26Ser A26S not reviewed Insufficiently evaluated not reviewed unknown Array rs11554199 57 10752 0.00530134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACTN3 Ala238Val A238V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10712 0.0057879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP5-9 Cys96Trp C96W not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARRB1 Thr370Met T370M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - THRSP Arg7His R7H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - ODZ4 Ala1322Val A1322V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.176 - - 2 - 0 N - - FAT3 Leu517Ser L517S not reviewed Insufficiently evaluated not reviewed unknown Array 64 9710 0.00659114 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.18 - - 6 Y 0 N - - DYNC2H1 Val3633Met V3633M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9638 0.000103755 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPAT Gly1015Ser G1015S not reviewed Insufficiently evaluated not reviewed unknown Array 8 9526 0.000839806 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZC3H12C Leu881Gln L881Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 9774 0.000716185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - AB231705 Val136Met V136M not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R1B Asn623Tyr N623Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61756429 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FDXACB1 Arg4Gly R4G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.888 - - 6 Y 2 N - - FAM55A Thr7Met T7M not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPZL3 Val172Met V172M not reviewed Insufficiently evaluated not reviewed unknown Array rs34507994 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - UPK2 Gly93Asp G93D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 4 Y 1 N - - ARHGEF12 Tyr1306Cys Y1306C not reviewed Insufficiently evaluated not reviewed unknown Array 18 9806 0.00183561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORL1 Ala2173Thr A2173T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - HSPA8 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR4D5 Ile309Thr I309T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8B2 Val275Leu V275L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FKBP4 Asn197Lys N197K not reviewed Insufficiently evaluated not reviewed unknown Array rs56196860 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.142 - - 1 - 0 N - - CD163L1 Val286Ile V286I not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - A2ML1 Arg97Gly R97G not reviewed Insufficiently evaluated not reviewed unknown Array 8 9640 0.000829875 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 6 Y 1 N - - CLEC1B Val42Met V42M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10294 0.000777151 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALG10B Lys216Asn K216N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.5 - - 1 - 1 N - - ALG10B Ile368Thr I368T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CACNB3 Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - TROAP Ser562Ile S562I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BCDIN3D Asp8Gly D8G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO1A Pro426Leu P426L not reviewed Insufficiently evaluated not reviewed unknown Array rs4759043 11 10758 0.00102249 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.911 - - 7 Y 2 N - - LRP1 Arg117Gly R117G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - GLI1 Met214Thr M214T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.516 - - 2 - 1 N - - LRRIQ1 Glu1032Ala E1032A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10742 0.00605101 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCHP Ser44Pro S44P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.45 - - 3 - 1 N - - PITPNM2 Asp342Asn D342N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - PGAM5 Lys191Arg K191R not reviewed Insufficiently evaluated not reviewed unknown Array 304 10664 0.0285071 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.05 - - -3 - 0 N - - SLC7A1 Ala292Val A292V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EXOSC8 Arg190Lys R190K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EXOSC8 Ser272Thr S272T not reviewed Insufficiently evaluated not reviewed unknown Array rs36027220 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - NEK3 Glu304Asp E304D not reviewed Insufficiently evaluated not reviewed unknown Array rs55969405 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NALCN Arg1654Gln R1654Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 0 - 2 N - - ATP11A Arg638Gln R638Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM70B Val183Ile V183I not reviewed Insufficiently evaluated not reviewed unknown Array rs41284482 102 10752 0.00948661 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - -4 - 2 N - - OR4N2 Arg224His R224H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - APEX1 Ile64Val I64V not reviewed Insufficiently evaluated not reviewed unknown Array rs2307486 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - JUB Pro44Leu P44L not reviewed Insufficiently evaluated not reviewed unknown Array rs45543740 146 10752 0.0135789 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 7 Y 1 N - - EFS Val100Met V100M not reviewed Insufficiently evaluated not reviewed unknown Array rs2231801 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - DHRS4L1 Leu19Met L19M not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RABGGTA Gly340Ser G340S not reviewed Insufficiently evaluated not reviewed unknown Array 31 9832 0.00315297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NIN Glu642Lys E642K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10632 9.4055e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.309 - - 0 - 1 N - - PTGDR Arg332Gln R332Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41312506 92 10758 0.00855177 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.905 - - 0 - 2 N - - SYT16 Ala6Val A6V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9758 0.00010248 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.872 - - 2 - 2 N - - SLC8A3 Gly577Ser G577S not reviewed Insufficiently evaluated not reviewed unknown Array rs41286548 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - VRTN Arg72Gln R72Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45593432 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - TRIP11 Ile919Thr I919T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LGMN Thr332Met T332M not reviewed Insufficiently evaluated not reviewed unknown Array 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - SERPINA13 Arg301Trp R301W not reviewed Insufficiently evaluated not reviewed unknown Array rs61740321 170 10758 0.0158022 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.903 - - 7 Y 2 N - - AHNAK2 Arg3949Gln R3949Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK2 Leu2079Phe L2079F not reviewed Insufficiently evaluated not reviewed unknown Array 407 7874 0.0516891 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 0 N - - AHNAK2 Pro1562Ser P1562S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.147 - - 3 - 0 N - - CHRM5 Thr351Ile T351I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - C15ORF55 Gly1095Arg G1095R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C15ORF55 Thr1122Met T1122M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DISP2 Gly1145Ser G1145S not reviewed Insufficiently evaluated not reviewed unknown Array rs2412512 23 10758 0.00213794 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VPS13C Leu2157Phe L2157F not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - PLEKHO2 Arg400Trp R400W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 7 Y 2 N - - CILP Arg448His R448H not reviewed Insufficiently evaluated not reviewed unknown Array rs35714337 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGDCC4 Lys468Arg K468R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -3 - 0 N - - MYO9A Ser1362Pro S1362P not reviewed Insufficiently evaluated not reviewed unknown Array rs55738821 296 10758 0.0275144 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_024776 Arg970Cys R970C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10482 0.00114482 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - C15ORF26 Pro284Ser P284S not reviewed Insufficiently evaluated not reviewed unknown Array rs2279997 8 10184 0.000785545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ALPK3 Pro1046Ser P1046S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.883 - - 3 - 2 N - - AGBL1 Pro223Leu P223L not reviewed Insufficiently evaluated not reviewed unknown Array 104 10320 0.0100775 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - HAPLN3 Gly106Arg G106R not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - C15ORF42 Ala1281Pro A1281P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGF1R Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - LASS3 His294Arg H294R not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.508 - - 1 - 1 N - - AXIN1 Gly650Ser G650S not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMF1 Pro558Arg P558R not reviewed Insufficiently evaluated not reviewed unknown Array rs4984948 80 9856 0.00811688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNASE1L2 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10418 9.5987e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SRRM2 Leu1293Ser L1293S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF174 Arg168Lys R168K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -3 - 2 N - - FAM86A Ala97Val A97V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - ATF7IP2 Ser644Thr S644T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 0 N - - CPPED1 Gly253Arg G253R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10052 9.9482e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 6 Y 1 N - - DNAH3 Arg3704Lys R3704K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - -3 - 1 N - - USP48 Lys1017Asn K1017N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - YPEL3 Ser76Pro S76P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD2BP2 Lys26Del K26Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLEKHG4 Thr754Ala T754A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.789 Y - 1 - 2 N - - C16ORF48 Ala224Thr A224T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX28 Pro135Ser P135S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10710 0.00177404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.922 - - 3 - 2 N - - CNTNAP4 Phe19Ser F19S not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MON1B Asp20Tyr D20Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35193130 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 1 N - - WWOX Ser413Tyr S413Y not reviewed Insufficiently evaluated not reviewed unknown Array 151 9940 0.0151911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 5 Y 1 N - - FAM38A Ala1551Val A1551V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM7 Leu130Ser L130S not reviewed Insufficiently evaluated not reviewed unknown Array rs4264393 18 9648 0.00186567 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0664 Ser799Cys S799C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 3 - 0 N - - ALOX15 Pro617Ser P617S not reviewed Insufficiently evaluated not reviewed unknown Array rs41432647 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - KIF1C Gln42His Q42H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.859 - - -1 - 2 N - - TEKT1 Glu156Lys E156K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.056 - - 0 - 0 N - - SPEM1 Arg259Gln R259Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 9900 0.00080808 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - PFAS Val661Met V661M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYH2 Phe624Leu F624L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.934 Y - 0 - 3 N - - TRPV2 Trp494Cys W494C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - EPN2 Pro365Thr P365T not reviewed Insufficiently evaluated not reviewed unknown Array 129 10750 0.012 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ULK2 Pro479Leu P479L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABHD15 Thr302Ala T302A not reviewed Insufficiently evaluated not reviewed unknown Array 58 10734 0.00540339 3 0 4 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - NLE1 Leu295Phe L295F not reviewed Insufficiently evaluated not reviewed unknown Array rs34325923 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - PNMT Arg73Ser R73S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - 3 - 1 N - - KRT20 Ser57Arg S57R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - KRT38 His51Gln H51Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DHX58 Asn461Ser N461S not reviewed Insufficiently evaluated not reviewed unknown Array rs34016093 393 10758 0.036531 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - STAT5B Tyr683Ser Y683S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.901 - - 5 Y 2 N - - CCR10 Thr3Met T3M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.823 - - 2 - 1 N - - HDAC5 Cys983Gly C983G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TEX14 Arg768His R768H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERN1 Leu914Met L914M not reviewed Insufficiently evaluated not reviewed unknown Array 5 9896 0.000505254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - -3 - 0 N - - SLC16A6 Ile195Val I195V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM104A Gly2Arg G2R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR142 Gly290Ser G290S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - DNAH17 Pro505Leu P505L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CARD14 Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - AATK Ala1332Thr A1332T not reviewed Insufficiently evaluated not reviewed unknown Array rs55713566 125 9938 0.012578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - ATP5A1 Ala9Thr A9T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10538 9.4894e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMX3 Val309Ile V309I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MKNK2 Arg428Gln R428Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34475638 187 10752 0.0173921 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - TLE2 Ser705Asn S705N not reviewed Insufficiently evaluated not reviewed unknown Array 65 9938 0.00654055 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - MPND Pro423Leu P423L not reviewed Insufficiently evaluated not reviewed unknown Array rs34522164 313 9996 0.0313125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PLIN4 Thr1004Ser T1004S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - -2 - 1 N - - PTPRS Pro548Leu P548L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10738 0.000838144 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - ACSBG2 Asp13Glu D13E not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - SLC25A23 Gly383Ser G383S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - 2 - 0 N - - ARHGEF18 Ala852Val A852V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FBN3 Gln2454Lys Q2454K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MRPL4 Lys50Thr K50T not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - NM_022737 Thr278Ser T278S not reviewed Insufficiently evaluated not reviewed unknown Array rs11540666 585 10758 0.0543781 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.504 - - -2 - 0 N - - PODNL1 Pro428His P428H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CYP4F22 Ala194Val A194V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - JAK3 His529Arg H529R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.942 Y - 1 - 3 N - - PIK3R2 Pro151Ser P151S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10742 0.000558555 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 3 - 0 N - - IFI30 Met180Val M180V not reviewed Insufficiently evaluated not reviewed unknown Array rs4808756 3 10342 0.000290079 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1683 Ala1062Val A1062V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740684 1 10600 9.4339e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM59L Asp338Ala D338A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - ZNF486 Thr429Ile T429I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCNE1 Asp83His D83H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TDRD12 Gly1125Arg G1125R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FXYD3 Gln79Arg Q79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GAPDHS Ala93Ser A93S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745734 188 10758 0.0174754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.083 - - -1 - 0 N - - ZBTB32 Arg56Leu R56L not reviewed Insufficiently evaluated not reviewed unknown Array rs2234365 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.871 - - 6 Y 2 N - - TMEM149 Pro127Ala P127A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 2 - 2 N - - KIRREL2 Glu567Gln E567Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - ZFP30 Arg3Leu R3L not reviewed Insufficiently evaluated not reviewed unknown Array rs73621535 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.079 - - 6 Y 0 N - - DYRK1B Ala418Thr A418T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9090 0.000110011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEACAM3 Ala195Asp A195D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PVRL2 Arg383Gln R383Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - EHD2 Arg19His R19H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10740 0.000186219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRWD1 Arg287Cys R287C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SULT2B1 Pro345Leu P345L not reviewed Insufficiently evaluated not reviewed unknown Array rs17842463 137 10698 0.0128061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYBPC2 Arg394Trp R394W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF83 Gly435Glu G435E not reviewed Insufficiently evaluated not reviewed unknown Array rs61747437 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMC4 Lys68Arg K68R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EPN1 Pro266Leu P266L not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRP4 Ala427Thr A427T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF446 Pro300Ser P300S not reviewed Insufficiently evaluated not reviewed unknown Array rs36095067 199 10306 0.0193091 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.552 - - 3 - 1 N - - MYT1L Arg11Cys R11C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GEN1 Ser189Asn S189N not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM214 Gln154Lys Q154K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - -2 - 1 N - - HAAO Gly235Arg G235R not reviewed Insufficiently evaluated not reviewed unknown Array rs34053133 44 10698 0.00411292 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ABCG8 Thr401Ser T401S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.157 Y - -2 - 1 N - - ASB3 Glu157Asp E157D not reviewed Insufficiently evaluated not reviewed unknown Array rs1127767 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.157 - - -2 - 0 N - - NAT8 Ala73Val A73V not reviewed Insufficiently evaluated not reviewed unknown Array rs72635972 195 10758 0.018126 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF103 Cys658Phe C658F not reviewed Insufficiently evaluated not reviewed unknown Array rs61760874 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - TSGA10 Asn303Ser N303S not reviewed Insufficiently evaluated not reviewed unknown Array rs35465451 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.156 - - 0 - 0 N - - SULT1C3 Tyr202His Y202H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - BIN1 Asn232Lys N232K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.905 Y - 1 - 3 N - - AMMECR1L SerGly59ArgArg SG59RR not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_002826 Ala113Val A113V not reviewed Insufficiently evaluated not reviewed unknown Array rs1317139 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - YSK4 Arg675Gln R675Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NMI Thr206Met T206M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 2 - 2 N - - CCDC148 Phe232Leu F232L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - FIGN Gly325Glu G325E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CWC22 Ser685Cys S685C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - 3 - 1 N - - USP40 Leu842His L842H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - ILKAP Ile66Met I66M not reviewed Insufficiently evaluated not reviewed unknown Array rs34371548 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - ADAM33 Ala427Val A427V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 2 - 0 N - - NCOA6 Stop2064Leu X2064L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EDEM2 Glu538Gly E538G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 6 Y 0 N - - DLGAP4 Arg10His R10H not reviewed Insufficiently evaluated not reviewed unknown Array rs35694596 150 10648 0.0140872 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 1 - 2 N - - SEMG1 His108Arg H108R not reviewed Insufficiently evaluated not reviewed unknown Array rs2233884 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.918 - - 1 - 2 N - - RBPJL Thr280Met T280M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFATC2 His446Arg H446R not reviewed Insufficiently evaluated not reviewed unknown Array rs12479626 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.816 - - 1 - 1 N - - C20ORF106 Met137Val M137V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYCP2 Ile1376Val I1376V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10744 0.00120998 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TAF4 Arg1071His R1071H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LAMA5 Pro3075Leu P3075L not reviewed Insufficiently evaluated not reviewed unknown Array rs41307205 340 10662 0.031889 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - NM_001037335 Thr1889Ala T1889A not reviewed Insufficiently evaluated not reviewed unknown Array rs34980032 747 10452 0.0714696 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - LIME1 Pro211Leu P211L not reviewed Insufficiently evaluated not reviewed unknown Array rs1151625 596 10736 0.0555142 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 1 N - - MYT1 Arg329Gln R329Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - KRTAP13-4 Trp56Arg W56R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - URB1 Leu703Pro L703P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - URB1 Val336Met V336M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIM2 Thr141Met T141M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - 2 - 2 N - - WRB Pro172Leu P172L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - 7 Y 1 N - - ADARB1 Glu57Val E57V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.739 - - 5 Y 1 N - - GAB4 Ala221Thr A221T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10208 0.00117555 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - GAB4 Ser217Leu S217L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743894 41 10240 0.00400391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 6 Y 1 N - - IL17RA Gly710Ser G710S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 2 - 1 N - - GNB1L Pro210Leu P210L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PIWIL3 Glu189Lys E189K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TRIOBP Arg1231His R1231H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 1 - 3 N - - CR594457 Ala6Pro A6P not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHL1 Val12Ile V12I not reviewed Insufficiently evaluated not reviewed unknown Array 95 10756 0.00883228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LMCD1 Gly70Ala G70A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - LMCD1 Lys290Gln K290Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - -2 - 1 N - - CAND2 His616Arg H616R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAND2 Arg894Gln R894Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP210 Val964Ala V964A not reviewed Insufficiently evaluated not reviewed unknown Array rs2271502 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGD5 Thr560Met T560M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMPPE Ile364Val I364V not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -4 - 0 N - - ULK4 Val1126Ala V1126A not reviewed Insufficiently evaluated not reviewed unknown Array 17 9990 0.0017017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 2 - 2 N - - SEC22C Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - 0 - 1 N - - CCRL2 Asp23Asn D23N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10448 0.00114854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.254 - - -1 - 1 N - - MST1 Arg479Leu R479L not reviewed Insufficiently evaluated not reviewed unknown Array rs62262682 1 4 0.25 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.727 - - 6 Y 0 N - - ZNF717 Thr439Ile T439I not reviewed Insufficiently evaluated not reviewed unknown Array rs6686263 4 102 0.0392157 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - ZNF717 Arg350His R350H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF717 Arg349Cys R349C not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF717 His273Pro H273P not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZDHHC23 Lys13Arg K13R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CD80 Leu197Val L197V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 0 - 2 N - - IQCB1 Arg502Gln R502Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.754 - - 0 - 1 N - - DTX3L Gly459Val G459V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 8 Y 2 N - - PIK3R4 Val448Ile V448I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - PLS1 Ala342Thr A342T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.944 - - 1 - 2 N - - IFT80 Ser357Phe S357F not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 3 0 3 0 0 0 Y - - - - - - - - - - - - - - - - - 5 Y 1 N - - LAMP3 Ala8Val A8V not reviewed Insufficiently evaluated not reviewed unknown Array 2 110 0.0181818 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MCF2L2 Asp497Asn D497N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -1 - 2 N - - EIF4G1 Lys1071Arg K1071R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -3 - 0 N - - EIF4G1 Thr1477Met T1477M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 2 N - - LRRC15 Ala557Cys A557C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF141 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - -4 - 2 N - - NOP14 Glu775Lys E775K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - RGS12 Arg796Cys R796C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 8 Y 0 N - - CPZ Arg529His R529H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - CLNK His280Gln H280Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -1 - 0 N - - AK308144 Gln524Arg Q524R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741063 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - ZCCHC4 Ser22Gly S22G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10256 0.000585023 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.025 - - 2 - 0 N - - ZCCHC4 Ile219Thr I219T not reviewed Insufficiently evaluated not reviewed unknown Array 5 9556 0.000523231 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.128 - - 3 - 0 N - - PCDH7 Arg3Lys R3K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10158 0.000196889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KCTD8 Lys245Arg K245R not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - AFP Lys187Gln K187Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35765619 92 10756 0.00855337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - -2 - 2 N - - SHROOM3 Gly59Val G59V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - FRAS1 Arg173Gln R173Q not reviewed Insufficiently evaluated not reviewed unknown Array 81 9886 0.0081934 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - HPSE Ala233Gly A233G not reviewed Insufficiently evaluated not reviewed unknown Array rs12512551 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 1 - 1 N - - HELQ Glu45Lys E45K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - ADH7 Gly185Ala G185A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CENPE Glu1925Asp E1925D not reviewed Insufficiently evaluated not reviewed unknown Array rs2306106 6 10738 0.000558763 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.264 - - -2 - 1 N - - CENPE His230Gln H230Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - PRSS48 His105Gln H105Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX60L Tyr917His Y917H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - MTNR1A Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array rs1800884 2 124 0.016129 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEP72 Thr295Met T295M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO10 Gly1225Arg G1225R not reviewed Insufficiently evaluated not reviewed unknown Array 3 9758 0.00030744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SNX18 Ser470Cys S470C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDC20B Tyr515Phe Y515F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - F2R Ser412Tyr S412Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2227799 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.918 - - 5 Y 2 N - - RIOK2 Met244Val M244V not reviewed Insufficiently evaluated not reviewed unknown Array rs33996030 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.25 - - 0 - 1 N - - MAN2A1 Ile1136Val I1136V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735368 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.154 - - -4 - 0 N - - WDR36 Ala449Thr A449T not reviewed Insufficiently evaluated not reviewed unknown Array rs35703638 40 10756 0.00371885 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.057 Y - 1 - 1 N - - AK002097 Gly109Glu G109E not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HNRNPA0 Gly187Ser G187S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10506 0.000666285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - KDM3B Glu616Asp E616D not reviewed Insufficiently evaluated not reviewed unknown Array rs34608821 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - PCDHB18 Val700Met V700M not reviewed Insufficiently evaluated not reviewed unknown Array rs1985582 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - YIPF5 Val256Ile V256I not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -4 - 0 N - - MFAP3 Met173Ile M173I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - -1 - 2 N - - ITK Thr504Ser T504S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - SLIT3 Val1090Met V1090M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 0 - 1 N - - SLIT3 Ala773Thr A773T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NQO2 Glu29Gly E29G not reviewed Insufficiently evaluated not reviewed unknown Array rs17136117 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RPP40 Tyr300Cys Y300C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FARS2 His226Tyr H226Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - SLC17A4 Ser321Leu S321L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.722 - - 6 Y 1 N - - HIST1H1C Lys176Asn K176N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX16 Asp566Gly D566G not reviewed Insufficiently evaluated not reviewed unknown Array rs9262138 343 7524 0.0455875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DDR1 Ser17Gly S17G not reviewed Insufficiently evaluated not reviewed unknown Array rs55901302 26 7520 0.00345745 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSORS1C1 Ser66Cys S66C not reviewed Insufficiently evaluated not reviewed unknown Array rs2233943 68 7524 0.00903775 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCHCR1 Gln756Leu Q756L not reviewed Insufficiently evaluated not reviewed unknown Array 68 7518 0.00904496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PRRC2A Arg281Cys R281C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PRRC2A Lys376Glu K376E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSH5 Leu377Phe L377F not reviewed Insufficiently evaluated not reviewed unknown Array rs28399977 35 7516 0.00465673 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNXB Pro3526Leu P3526L not reviewed Insufficiently evaluated not reviewed unknown Array 38 6652 0.00571257 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - TNXB Val2433Ile V2433I not reviewed Insufficiently evaluated not reviewed unknown Array 44 6242 0.00704902 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - TNXB Gly1850Ser G1850S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10586 0.00491215 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - BTNL2 Leu109Pro L109P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 7 Y 2 N - - PSMB9 Ala64Ser A64S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HSD17B8 His190Arg H190R not reviewed Insufficiently evaluated not reviewed unknown Array rs34491699 93 7516 0.0123736 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.227 - - 1 - 1 N - - ZBTB9 Ser155Phe S155F not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.125 - - 5 Y 0 N - - SLC26A8 Val734Met V734M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - BRPF3 Glu1075Lys E1075K not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.912 - - 0 - 2 N - - PRIM2 Ile218Val I218V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9898 0.000505152 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LGSN Phe270Leu F270L not reviewed Insufficiently evaluated not reviewed unknown Array rs35296992 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBX18 Val272Ile V272I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - ASCC3 Gly1688Arg G1688R not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 6 Y 2 N - - MICAL1 Glu937Val E937V not reviewed Insufficiently evaluated not reviewed unknown Array rs34681234 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - MICAL1 Gly220Asp G220D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 4 Y 0 N - - DDO Leu293Val L293V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROS1 Ser370Pro S370P not reviewed Insufficiently evaluated not reviewed unknown Array rs56274823 28 10754 0.00260368 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 3 - 1 N - - TAAR1 Ala152Asp A152D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 5 Y 2 N - - PHACTR2 Val368Ile V368I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UTRN Gly1090Arg G1090R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHG1 Asp668Gly D668G not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - TULP4 Pro1061Leu P1061L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RSPH3 Gln521Arg Q521R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - RSPH3 Arg461His R461H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - IGF2R Arg1335Cys R1335C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - RSPH10B Met550Ile M550I not reviewed Insufficiently evaluated not reviewed unknown Array rs17853305 6 8748 0.000685871 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCIN Pro508Ser P508S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C7ORF31 Ala249Thr A249T not reviewed Insufficiently evaluated not reviewed unknown Array rs17150982 321 10758 0.0298383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPSR1 Cys197Phe C197F not reviewed Insufficiently evaluated not reviewed unknown Array rs34705969 231 10758 0.0214724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - INHBA Gly334Ser G334S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - TNS3 Ala1074Thr A1074T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10048 9.9522e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAF6 Ser494Leu S494L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 6 Y 0 N - - COG5 Gln432His Q432H not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - NRCAM Ser1117Phe S1117F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 5 Y 1 N - - NR_002144 Glu123Ala E123A not reviewed Insufficiently evaluated not reviewed unknown Array rs61747603 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNA4 Phe40Leu F40L not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.252 - - 0 - 1 N - - CNTNAP2 Glu713Lys E713K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - DPP6 Gly37Ser G37S not reviewed Insufficiently evaluated not reviewed unknown Array rs2240820 1 24 0.0416667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DEFA4 Val56Ala V56A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - TACC1 Pro187Leu P187L not reviewed Insufficiently evaluated not reviewed unknown Array rs34235313 473 10758 0.0439673 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRKDC Pro3200Ser P3200S not reviewed Insufficiently evaluated not reviewed unknown Array rs8178216 99 9694 0.0102125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SULF1 Ile163Met I163M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -1 - 0 N - - PSKH2 Ser266Arg S266R not reviewed Insufficiently evaluated not reviewed unknown Array rs34037815 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.605 - - 3 - 1 N - - MTDH Ala78Ser A78S not reviewed Insufficiently evaluated not reviewed unknown Array rs17854373 362 10108 0.0358132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.308 - - -1 - 1 N - - HRSP12 Ala17Thr A17T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - LRP12 Asp839Asn D839N not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - -1 - 2 N - - WDR67 Thr1021Ile T1021I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - KLHL38 Ile391Thr I391T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10074 0.000694858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYC Phe22Leu F22L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM71 Tyr72His Y72H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - DENND3 Ala666Ser A666S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLANA Tyr47His Y47H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -1 - 2 N - - C9ORF93 Ala293Gly A293G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFX1 Pro1087Leu P1087L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - IGFBPL1 Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - APBA1 Gln394Glu Q394E not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - PRUNE2 Val1494Ile V1494I not reviewed Insufficiently evaluated not reviewed unknown Array rs11145016 159 7820 0.0203325 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM75D1 Ile1493Arg I1493R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10050 0.000398009 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF484 Val830Leu V830L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - NCBP1 Pro446Leu P446L not reviewed Insufficiently evaluated not reviewed unknown Array 140 10756 0.013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.308 - - 7 Y 1 N - - BAAT Val304Ala V304A not reviewed Insufficiently evaluated not reviewed unknown Array rs61755096 250 10758 0.0232385 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.019 Y - 2 - 1 N - - GRIN3A Thr863Ala T863A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA1 Ala2028Val A2028V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C9ORF84 Gly1152Arg G1152R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SNX30 Ile245Met I245M not reviewed Insufficiently evaluated not reviewed unknown Array 699 9896 0.0706346 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CEP110 Glu1937Lys E1937K not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.154 - - 0 - 0 N - - DAB2IP Ala788Val A788V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10322 0.00019376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTLL11 Glu121Lys E121K not reviewed Insufficiently evaluated not reviewed unknown Array 235 7106 0.0330706 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - OR1N1 Arg229His R229H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - TTC16 Tyr809Cys Y809C not reviewed Insufficiently evaluated not reviewed unknown Array rs4837178 112 10756 0.0104128 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 6 Y 2 N - - FPGS Arg466Cys R466C not reviewed Insufficiently evaluated not reviewed unknown Array rs35789560 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - NUP188 Val262Ile V262I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - NOTCH1 Val2285Ile V2285I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751489 123 10176 0.0120873 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - EXD3 Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array 11 8706 0.0012635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GTPBP6 Gln233Arg Q233R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSF2RA Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10750 0.00530232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - 0 - 1 N - - ARSF Pro115Arg P115R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - TLR7 Ala448Val A448V not reviewed Insufficiently evaluated not reviewed unknown Array rs5743781 23 8742 0.00263098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - EGFL6 Gly378Ser G378S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - KLHL34 Leu158Ser L158S not reviewed Insufficiently evaluated not reviewed unknown Array 24 7371 0.003256 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.216 - - 6 Y 1 N - - WNK3 Asn86Ser N86S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERCC6L Ser759Asn S759N not reviewed Insufficiently evaluated not reviewed unknown Array rs45448501 297 8761 0.0339002 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRMT2B Gln297His Q297H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - TCEAL6 Asp25Asn D25N not reviewed Insufficiently evaluated not reviewed unknown Array 52 8761 0.0059354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - BEX4 Pro120Leu P120L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PASD1 Val509Met V509M not reviewed Insufficiently evaluated not reviewed unknown Array rs41312626 134 8258 0.0162267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLXNA3 Ala579Val A579V not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GJB4 Arg103Cys R103C not reviewed Insufficiently evaluated not reviewed unknown Array rs9426009 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y - 8 Y 3 N - - FCRL2 Cys82Shift C82Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SELP Glu456Stop E456X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RBP3 Ser722Shift S722Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PCDH15 Ala1445Gly A1445G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y 1 - 2 N - - CDH23 Ala3324Thr A3324T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10534 0.000189861 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LDB3 Arg139Gly R139G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TACC2 Asn2591Shift N2591Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF76 Arg13Stop R13X not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATM Thr452Ile T452I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SLC37A4 Ala290Gly A290G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ROBO3 Arg539Trp R539W not reviewed Insufficiently evaluated not reviewed unknown Array 53 9760 0.00543033 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.791 Y - 7 Y 2 N - - CNTN1 Ser14Shift S14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USP15 Glu444Shift E444Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001083900 Glu1918Shift E1918Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMTC4 Phe426Shift F426Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TINF2 Pro380Leu P380L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10054 9.9462e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - TTBK2 Gln646Glu Q646E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.968 Y Y -2 - 4 N - - DENND4A Pro85Shift P85Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCI Met525Val M525V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TSC2 Arg367Gln R367Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800725 168 10758 0.0156163 2 0 2 1 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 0 - 4 N - - TMC7 Arg335Shift R335Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C16ORF78 Val256Shift V256Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HP Pro155Arg P155R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 5 Y 3 N - - TCAP Arg106Cys R106C not reviewed Insufficiently evaluated not reviewed unknown Array rs45578741 42 10752 0.00390625 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 8 Y 4 N - - WNK4 Pro1025Leu P1025L not reviewed Insufficiently evaluated not reviewed unknown Array rs56099549 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - SOX9 GlnTyr439HisHis QY439HH not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TSEN54 Arg109Gly R109G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10734 0.000931619 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.84 Y Y 6 Y 3 N - - DSC2 Gln287Arg Q287R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - MPND Leu281Shift L281Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF17 Glu635Stop E635X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP6V1B1 Tyr498Cys Y498C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - HTRA2 Tyr163Cys Y163C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 6 Y 4 N - - CNTNAP5 Gln719Shift Q719Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Asp3655Gly D3655G not reviewed Insufficiently evaluated not reviewed unknown Array rs35740585 180 10052 0.0179069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - STAM2 Thr39Shift T39Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN9A Val991Leu V991L not reviewed Insufficiently evaluated not reviewed unknown Array rs4369876 39 9460 0.00412262 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg11967Cys R11967C not reviewed Insufficiently evaluated not reviewed unknown Array rs12471771 12 9914 0.00121041 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SP110 Gly483Arg G483R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TRPM2 Gln427Stop Q427X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MCM5 Glu37Stop E37X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HRH1 Leu463Shift L463Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TPRXL Ser164Stop S164X not reviewed Insufficiently evaluated not reviewed unknown Array 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DLEC1 Cys1710Stop C1710X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EVC2 Arg1019Trp R1019W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.03 Y - 7 Y 1 N - - WFS1 Phe883Shift F883Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - FRAS1 Arg327Trp R327W not reviewed Insufficiently evaluated not reviewed unknown Array rs61999335 90 10256 0.00877535 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - BANK1 Leu85Stop L85X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C4ORF47 Val259Shift V259Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35715260 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK027578 Gly89Stop G89X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GABRP Glu29Stop E29X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FLT4 His199Ser H199S not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FANCE Pro445Ser P445S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.922 Y Y 3 - 4 N - - LAMA2 Thr2015Pro T2015P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - C7ORF46 Ile212Shift I212Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKAP9 Lys1227Shift K1227Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TAS2R38 Lys139Arg K139R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 Y Y -3 - 2 N - - NCOA2 Pro1021Shift P1021Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRAM1 Asn361Shift N361Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BAI1 Phe1020Shift F1020Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA1 Arg230Cys R230C not reviewed Insufficiently evaluated not reviewed unknown Array rs9282541 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - TAF1 Leu290Val L290V not reviewed Insufficiently evaluated not reviewed unknown Array rs28382158 70 8761 0.00798996 2 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CR591764 Arg128Stop R128X not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POU3F4 Gly237Shift G237Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5921978 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - DKC1 Lys505Del K505Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - PLEKHN1 Arg86Trp R86W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KIAA1751 Ala313Val A313V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10688 0.00140344 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - PER3 Arg373Trp R373W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VPS13D Gln153His Q153H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - PADI1 Arg551His R551H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - NBPF3 Arg177Cys R177C not reviewed Insufficiently evaluated not reviewed unknown Array 379 10754 0.0352427 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.018 - - 8 Y 0 N - - CNR2 Arg65His R65H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.332 - - 1 - 1 N - - PTCH2 Gln245His Q245H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAD54L Gly496Ala G496A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 1 - 0 N - - CYP4A22 Glu77Lys E77K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP4A22 Arg78Trp R78W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CYP4A22 Lys80Glu K80E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACOT11 Ser408Leu S408L not reviewed Insufficiently evaluated not reviewed unknown Array rs34148246 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - 6 Y 1 N - - USP1 Pro399Ser P399S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.755 - - 3 - 1 N - - KIAA1107 Phe953Val F953V not reviewed Insufficiently evaluated not reviewed unknown Array rs17578364 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VANGL1 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.018 Y - -4 - 1 N - - HSD3B1 Gly141Ser G141S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 2 - 1 N - - SETDB1 His1083Pro H1083P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UBQLN4 Ser372Gly S372G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.555 - - 2 - 1 N - - PMF1 Arg150Cys R150C not reviewed Insufficiently evaluated not reviewed unknown Array rs62001899 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - KIRREL Arg586Cys R586C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - MAEL Asn360Ser N360S not reviewed Insufficiently evaluated not reviewed unknown Array rs34554682 296 10758 0.0275144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPT Val39Met V39M not reviewed Insufficiently evaluated not reviewed unknown Array rs998688 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 1 N - - C1ORF125 Lys435Arg K435R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10748 0.00130257 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CAMSAP1L1 Ser91Asn S91N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBPH Arg249His R249H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CENPF Met793Arg M793R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732042 279 10744 0.025968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPATA17 Tyr105Cys Y105C not reviewed Insufficiently evaluated not reviewed unknown Array rs12035909 77 10746 0.00716546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - DISP1 Val1079Met V1079M not reviewed Insufficiently evaluated not reviewed unknown Array 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCK3 Glu535Asp E535D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - OBSCN Arg1761Cys R1761C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PCNXL2 Asn2065Ser N2065S not reviewed Insufficiently evaluated not reviewed unknown Array rs41304133 147 10214 0.014392 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - OR2T12 Gly253Ala G253A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2T1 Ser203Cys S203C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - OR2T3 Tyr109His Y109H not reviewed Insufficiently evaluated not reviewed unknown Array rs946770 4 10736 0.000372578 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ITIH5 Thr414Met T414M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 2 - 0 N - - RPP38 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array rs3814171 183 10758 0.0170106 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - -4 - 0 N - - ITGA8 Phe974Ser F974S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CUBN Ala1202Thr A1202T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PTPLA Ile236Val I236V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGAP21 Leu969Val L969V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - MPP7 Asp238Asn D238N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.117 - - -1 - 0 N - - GDF10 Ala292Thr A292T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDFY4 His891Arg H891R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RHOBTB1 Gly373Arg G373R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - MYPN Leu1161Ile L1161I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - -2 - 2 N - - NDST2 Arg112His R112H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - CDHR1 His53Gln H53Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12781048 301 10758 0.0279792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.864 - - -1 - 2 N - - CYP2C9 Pro174Ala P174A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 2 - 2 N - - ZNF518A Gln75Arg Q75R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOT1 Gln370Glu Q370E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -2 - 2 N - - GOT1 Glu183Gly E183G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - PPRC1 Arg1357Ser R1357S not reviewed Insufficiently evaluated not reviewed unknown Array rs111905925 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - CASP7 Arg135Gln R135Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF88 Thr351Ile T351I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751031 36 10754 0.00334759 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKI67 Ala1059Val A1059V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729196 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - C10ORF92 Gly345Ser G345S not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKP3 Arg785Gln R785Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1134578 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 0 - 1 N - - MUC6 IleThr2026ThrPro IT2026TP not reviewed Insufficiently evaluated not reviewed unknown Array 2 96 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC2 Asn1985Asp N1985D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10504 0.000285605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC5AC Arg55His R55H not reviewed Insufficiently evaluated not reviewed unknown Array 113 4580 0.0246725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KRTAP5-4 Gly87Asp G87D not reviewed Insufficiently evaluated not reviewed unknown Array 2 3200 0.000625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM6-TRIM34 Gln217His Q217H not reviewed Insufficiently evaluated not reviewed unknown Array rs61758096 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR56B1 Ser102Asn S102N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 0 - 1 N - - DNHD1 Tyr431Cys Y431C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - EIF3F Ser267Gly S267G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - TMEM41B Phe66Ser F66S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MICALCL Asn287Ser N287S not reviewed Insufficiently evaluated not reviewed unknown Array 107 9820 0.0108961 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - LDHA Gly203Ala G203A not reviewed Insufficiently evaluated not reviewed unknown Array rs34305721 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.613 Y - 1 - 2 N - - LDHAL6A Ile218Thr I218T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.468 - - 3 - 1 N - - DBX1 Asn314Lys N314K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10632 0.000470278 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXO3 Glu433Del E433Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COMMD9 Glu112Lys E112K not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - PHF21A Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 2 - 0 N - - MADD Asn906Ser N906S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.021 Y - 0 - 1 N - - OR4A16 Ile275Thr I275T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 3 - 0 N - - MS4A6A Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 7 Y 2 N - - C11ORF9 Ala723Thr A723T not reviewed Insufficiently evaluated not reviewed unknown Array rs34038946 7 9814 0.000713266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD248 Ser443Del S443Del not reviewed Insufficiently evaluated not reviewed unknown Array rs3832786 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPP3 Glu690Lys E690K not reviewed Insufficiently evaluated not reviewed unknown Array rs12421620 156 10758 0.0145008 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.313 - - 0 - 1 N - - ACTN3 Arg578Gln R578Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POLD4 Arg39Pro R39P not reviewed Insufficiently evaluated not reviewed unknown Array rs28364240 27 10744 0.00251303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TCIRG1 Val558Leu V558L not reviewed Insufficiently evaluated not reviewed unknown Array rs35089741 16 10758 0.00148726 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C11ORF30 Ala619Thr A619T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYTL2 Ala996Val A996V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740616 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DIXDC1 Thr400Met T400M not reviewed Insufficiently evaluated not reviewed unknown Array 6 9864 0.000608272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKK1 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array rs35877321 98 10612 0.00923483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.272 - - 1 - 1 N - - MLL Ser779Leu S779L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 6 Y 1 N - - TMEM25 Arg319Trp R319W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NLRX1 Arg403His R403H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MFRP Arg54Gly R54G not reviewed Insufficiently evaluated not reviewed unknown Array 89 10704 0.00831465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 6 Y 0 N - - PVRL1 Glu330Lys E330K not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.97 Y - 0 - 3 N - - ROBO3 Met514Ile M514I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10000 0.0009 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.978 Y - -1 - 3 N - - RPUSD4 Ser221Pro S221P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - BC104851 Asn9Ser N9S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1R Ile345Leu I345L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9906 0.00100949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD163L1 His1326Gln H1326Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BCL2L14 Asp277Gly D277G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - KIAA1467 Leu275Phe L275F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - 0 - 1 N - - HIST4H4 Phe101Ser F101S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK091689 Pro56Thr P56T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AQP6 Arg166Gly R166G not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - GALNT6 Ala115Glu A115E not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - PDE1B Arg482His R482H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 1 - 1 N - - TBK1 Val464Ala V464A not reviewed Insufficiently evaluated not reviewed unknown Array rs35635889 148 10742 0.0137777 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - PLXNC1 Glu494Gln E494Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34565975 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - STAB2 Thr647Ala T647A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - BTBD11 Met996Val M996V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - FOXN4 Pro137Leu P137L not reviewed Insufficiently evaluated not reviewed unknown Array rs11609341 129 3214 0.0401369 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - OAS3 Ala727Ser A727S not reviewed Insufficiently evaluated not reviewed unknown Array rs45607836 14 9856 0.00142045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBX3 Ala508Val A508V not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.061 Y - 2 - 1 N - - N4BP2L2 Asn269Asp N269D not reviewed Insufficiently evaluated not reviewed unknown Array 14 9696 0.00144389 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TSC22D1 Val448Del V448Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZC3H13 Gly1442Ala G1442A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VPS36 Lys172Arg K172R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - -3 - 1 N - - CLDN10 Ala169Ser A169S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MYO16 Met276Lys M276K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.373 - - 4 Y 1 N - - ARHGEF40 Ala943Thr A943T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10060 0.000695825 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - LRP10 Thr680Pro T680P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.529 - - 4 Y 1 N - - REM2 Arg79Trp R79W not reviewed Insufficiently evaluated not reviewed unknown Array rs61752841 6 10494 0.000571755 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - HOMEZ AspAsp544Del DD544Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 36 0.0277778 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C14ORF104 Arg487Cys R487C not reviewed Insufficiently evaluated not reviewed unknown Array 14 10718 0.00130621 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - HIF1A Ala475Ser A475S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - HSPA2 Val106Glu V106E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 5 Y 2 N - - ZFYVE1 Glu573Lys E573K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - FAM161B Arg236His R236H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - EML5 Asn519Ser N519S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - BTBD7 Thr667Met T667M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 2 - 2 N - - ASB2 Asn184Asp N184D not reviewed Insufficiently evaluated not reviewed unknown Array rs11555542 418 10758 0.0388548 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - -1 - 1 N - - SERPINA4 Arg398Gln R398Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - MAGEL2 Ala161Thr A161T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10058 0.000795386 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FSIP1 Ile368Leu I368L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - JMJD7-PLA2G4B Arg795His R795H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTBN5 Ala3545Thr A3545T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9436 0.000423908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMOD2 Pro63Ala P63A not reviewed Insufficiently evaluated not reviewed unknown Array rs34791185 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - 2 - 0 N - - AQP9 Leu260Phe L260F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS13C Glu2008Asp E2008D not reviewed Insufficiently evaluated not reviewed unknown Array 166 10758 0.0154304 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.061 - - -2 - 0 N - - MEGF11 Leu861Phe L861F not reviewed Insufficiently evaluated not reviewed unknown Array rs3803414 730 10758 0.0678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - ITGA11 Lys1134Asn K1134N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9676 0.000103348 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MTHFS Pro112Leu P112L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - SLC28A1 Ala356Val A356V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC45A Arg240Pro R240P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 5 Y 0 N - - PRSS27 Arg19Thr R19T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRRM2 Arg695Gly R695G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRRM2 Pro2126Ser P2126S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SRRM2 Pro2739Ser P2739S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10628 0.00207 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLYWCH1 Cys451Arg C451R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HCFC1R1 Gly28Ser G28S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - MGRN1 Asn189Asp N189D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - EIF3C Glu295Del E295Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 98 0.0306122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MMP15 Asp596Gly D596G not reviewed Insufficiently evaluated not reviewed unknown Array rs41504346 54 10708 0.00504296 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CES2 Thr441Met T441M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCTD19 Ala798Val A798V not reviewed Insufficiently evaluated not reviewed unknown Array 85 10254 0.00828945 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - HYDIN Lys2143Glu K2143E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - ZNF469 Ser539Cys S539C not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.774 - - 3 - 1 N - - CYBA Lys60Thr K60T not reviewed Insufficiently evaluated not reviewed unknown Array rs11547387 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ZNF778 Ala241Thr A241T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10312 0.000775795 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF276 Lys422Gln K422Q not reviewed Insufficiently evaluated not reviewed unknown Array rs76023376 129 10758 0.0119911 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - DBNDD1 Pro70Leu P70L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10206 0.000195963 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GAS8 Glu199Lys E199K not reviewed Insufficiently evaluated not reviewed unknown Array rs868044 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.19 - - 0 - 0 N - - NUP88 Val337Ala V337A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 2 N - - ZBTB4 Arg906Gln R906Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - USP43 Glu211Ala E211A not reviewed Insufficiently evaluated not reviewed unknown Array 43 9638 0.00446151 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 0 N - - ALDH3A2 Pro424Ser P424S not reviewed Insufficiently evaluated not reviewed unknown Array rs61737992 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ALDOC Asn312Ser N312S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_144610 Ala3Thr A3T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CORO6 Leu411Pro L411P not reviewed Insufficiently evaluated not reviewed unknown Array 121 10660 0.0113508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCL11 Leu68Pro L68P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - FBXO47 Gln23His Q23H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KRT34 Cys34Tyr C34Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61747622 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 6 Y 2 N - - KRT32 Thr99Ile T99I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 3 - 2 N - - IFI35 Pro60Ala P60A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - RUNDC3A Val310Leu V310L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - NM_175882 Glu209Lys E209K not reviewed Insufficiently evaluated not reviewed unknown Array rs929223 3 124 0.0241935 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.069 - - 0 - 0 N - - CDC27 Asn492Ser N492S not reviewed Insufficiently evaluated not reviewed unknown Array 2 4 0.5 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HOXB2 Asp259Val D259V not reviewed Insufficiently evaluated not reviewed unknown Array 44 8746 0.00503087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 8 Y 0 N - - DLX4 Pro103Ala P103A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - TANC2 Ser5Gly S5G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ENGASE HisSer537Pro HS537P not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AATK Ala1314Thr A1314T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10204 0.000196001 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - C17ORF70 Ser106Gly S106G not reviewed Insufficiently evaluated not reviewed unknown Array rs61745255 3 5654 0.000530597 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FASN Ser955Thr S955T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CETN1 Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10150 0.00147783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP192 Arg1633Gln R1633Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.527 - - 0 - 1 N - - SS18 Tyr271Ser Y271S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - C18ORF34 Arg82Gln R82Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61745348 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELP2 Thr543Pro T543P not reviewed Insufficiently evaluated not reviewed unknown Array rs17563617 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 4 Y 0 N - - KATNAL2 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SERPINB8 Phe16Leu F16L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSEL Asn276Ser N276S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF126 Asp253Asn D253N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10590 9.4428e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLR2E Arg187Cys R187C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - REXO1 Ala681Thr A681T not reviewed Insufficiently evaluated not reviewed unknown Array 83 8802 0.00942967 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - AP3D1 Val526Met V526M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PLEKHJ1 Ile136Met I136M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - -1 - 0 N - - AMH Ser8Thr S8T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10646 9.3931e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UBXN6 Ser427Cys S427C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.406 - - 3 - 1 N - - UBXN6 Ala413Gly A413G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 1 - 0 N - - PSPN Arg57His R57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SLC25A41 Leu26Val L26V not reviewed Insufficiently evaluated not reviewed unknown Array 207 9742 0.0212482 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - KIAA1543 Pro1102Leu P1102L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MRI1 Tyr277Cys Y277C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR7A10 Ala273Thr A273T not reviewed Insufficiently evaluated not reviewed unknown Array rs10221530 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR7A10 Gly271Ser G271S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR7A10 HisThr269ProSer HT269PS not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CIB3 Asp154Glu D154E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AP1M1 Arg246Cys R246C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CPAMD8 Val369Met V369M not reviewed Insufficiently evaluated not reviewed unknown Array rs62622858 290 9664 0.0300083 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CPAMD8 Val355Ile V355I not reviewed Insufficiently evaluated not reviewed unknown Array 291 9824 0.0296213 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CPAMD8 Arg341Trp R341W not reviewed Insufficiently evaluated not reviewed unknown Array rs61744196 273 10112 0.0269976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - ZNF257 Cys55Arg C55R not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF676 Val217Ile V217I not reviewed Insufficiently evaluated not reviewed unknown Array 1 38 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC123 Ser344Ile S344I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - C19ORF40 Arg95Gln R95Q not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR88 Cys192Arg C192R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - PRODH2 Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array rs61995739 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CYP2F1 Leu391Pro L391P not reviewed Insufficiently evaluated not reviewed unknown Array 889 10440 0.0851533 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LIPE Ala94Thr A94T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.046 - - 1 - 0 N - - PHLDB3 Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC071811 Lys48Arg K48R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - EHD2 Arg280Cys R280C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10748 0.000558243 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.126 - - 8 Y 0 N - - LIG1 Val369Ile V369I not reviewed Insufficiently evaluated not reviewed unknown Array rs3730966 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF615 Thr675Ile T675I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 3 - 2 N - - ZNF415 Lys270Glu K270E not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSCAR Val98Leu V98L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EPN1 Arg383Gln R383Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF135 Asp10Asn D10N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -1 - 0 N - - TPO Ala3Val A3V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - NOL10 Ala177Val A177V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GEN1 Val48Ile V48I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR35 Ile728Val I728V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - -4 - 0 N - - ADCY8 Gly408Glu G408E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM214 Leu149Val L149V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10054 9.9462e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.505 - - 0 - 1 N - - CEBPZ His452Arg H452R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - LHCGR Ala118Glu A118E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PCBP1 Asn84Ser N84S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD1 Arg10Leu R10L not reviewed Insufficiently evaluated not reviewed unknown Array 177 10688 0.0165606 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TRIM43 Gly162Arg G162R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEMA4C Glu693Leu E693L not reviewed Insufficiently evaluated not reviewed unknown Array rs12476284 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP4K4 Ser712Thr S712T not reviewed Insufficiently evaluated not reviewed unknown Array rs56048147 1 9578 0.000104405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZC3H6 Tyr473Cys Y473C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CKAP2L Lys26Arg K26R not reviewed Insufficiently evaluated not reviewed unknown Array rs35593767 43 10756 0.00399777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -3 - 2 N - - GPR17 Pro173Ser P173S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.287 - - 3 - 1 N - - PLA2R1 Arg142Gln R142Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12327936 178 10758 0.0165458 4 0 4 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - LRP2 Arg3305His R3305H not reviewed Insufficiently evaluated not reviewed unknown Array rs3213760 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.762 - Y 1 - 2 N - - DNAH7 Met380Arg M380R not reviewed Insufficiently evaluated not reviewed unknown Array 90 9724 0.00925545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - ZDBF2 Arg1213Trp R1213W not reviewed Insufficiently evaluated not reviewed unknown Array 29 9754 0.00297314 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.088 - - 7 Y 0 N - - SMARCAL1 Arg114His R114H not reviewed Insufficiently evaluated not reviewed unknown Array rs11555797 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - CXCR1 Arg335Cys R335C not reviewed Insufficiently evaluated not reviewed unknown Array rs16858808 236 10758 0.0219372 3 0 3 1 1 - - - - 2 - - - - - - - - - - - 0.998 - - 8 Y 2 N - - Has a role in pathogenesis of the Chronic obstructive pulmonary disease (COPD) and asthma. C2ORF24 Ser311Arg S311R not reviewed Insufficiently evaluated not reviewed unknown Array 264 10756 0.0245444 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSMD1 Arg572His R572H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - UGT1A4 Arg451His R451H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - AGAP1 Gly542Ser G542S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 2 - 1 N - - MLPH Thr289Pro T289P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 4 Y 0 N - - SNED1 Thr1146Ser T1146S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10458 0.000478102 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - -2 - 1 N - - ANO7 Arg141Trp R141W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - FARP2 Arg653Cys R653C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - D2HGDH Ala420Thr A420T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10750 0.00232558 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GAL3ST2 Leu363Met L363M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ATRN Asp267Asn D267N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HAO1 Lys357Glu K357E not reviewed Insufficiently evaluated not reviewed unknown Array rs34249643 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - PAK7 Gly118Asp G118D not reviewed Insufficiently evaluated not reviewed unknown Array rs55923311 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.463 - - 4 Y 1 N - - SEL1L2 Ile547Phe I547F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - RIN2 Pro143Ser P143S not reviewed Insufficiently evaluated not reviewed unknown Array rs45488002 93 9622 0.00966535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHD6 Gly2153Ser G2153S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TP53TG5 Arg164Lys R164K not reviewed Insufficiently evaluated not reviewed unknown Array rs2231618 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -3 - 0 N - - DDX27 Arg723Gln R723Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - ZBP1 Arg166His R166H not reviewed Insufficiently evaluated not reviewed unknown Array rs34478944 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.545 - - 1 - 1 N - - HRH3 Arg421Gln R421Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 0 - 2 N - - LAMA5 Leu3245Phe L3245F not reviewed Insufficiently evaluated not reviewed unknown Array 23 10588 0.00217227 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.531 - - 0 - 1 N - - LAMA5 Arg1436His R1436H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - LAMA5 Ala530Val A530V not reviewed Insufficiently evaluated not reviewed unknown Array 31 10736 0.00288748 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.17 - - 2 - 0 N - - ABHD16B Pro164Leu P164L not reviewed Insufficiently evaluated not reviewed unknown Array rs6011194 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 7 Y 1 N - - MYT1 Glu222Lys E222K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.69 - - 0 - 1 N - - URB1 Pro1976Arg P1976R not reviewed Insufficiently evaluated not reviewed unknown Array rs762225 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SON Glu1256Gly E1256G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TRPM2 His281Del H281Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GAB4 Arg92Ser R92S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10738 0.00065189 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - ARVCF Ala805Val A805V not reviewed Insufficiently evaluated not reviewed unknown Array 153 10702 0.0142964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - SNAP29 Glu208Val E208V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 5 Y 2 N - - GAS2L1 Ser240Trp S240W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MEI1 Val57Leu V57L not reviewed Insufficiently evaluated not reviewed unknown Array 60 9336 0.00642673 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRMU Ile189Met I189M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.269 Y - -1 - 2 N - - PLXNB2 Asn933Ser N933S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17RC Ala395Thr A395T not reviewed Insufficiently evaluated not reviewed unknown Array 139 10744 0.0129375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - FBLN2 Pro409Leu P409L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10168 0.00324548 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VILL Asp706Asn D706N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - VILL Ser787Ala S787A not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - SCN10A Val1024Met V1024M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KBTBD5 Lys272Glu K272E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - CCR9 Ile92Val I92V not reviewed Insufficiently evaluated not reviewed unknown Array rs45530037 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -4 - 0 N - - WDR6 Ala364Ser A364S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - -1 - 0 N - - USP19 Ala556Val A556V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10276 0.00184897 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 2 - 1 N - - BSN Pro3888Leu P3888L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 7 Y 2 N - - MST1R Gln613Pro Q613P not reviewed Insufficiently evaluated not reviewed unknown Array rs35986685 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 4 Y 0 N - - DOCK3 Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DNAH1 Arg3809Cys R3809C not reviewed Insufficiently evaluated not reviewed unknown Array rs419752 3 128 0.0234375 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM110 Ala248Thr A248T not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 1 - 0 N - - AK127584 Ser180Pro S180P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - ARHGAP31 Pro782Thr P782T not reviewed Insufficiently evaluated not reviewed unknown Array 10 9872 0.00101296 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.01 - - 4 Y 0 N - - SLC12A8 Met75Val M75V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.165 - - 0 - 0 N - - KLF15 Ala261Thr A261T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UROC1 Arg20Gln R20Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10670 0.000187441 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - MBD4 Leu116Arg L116R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - 6 Y 1 N - - PLS1 Val236Ala V236A not reviewed Insufficiently evaluated not reviewed unknown Array 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.675 - - 2 - 1 N - - EIF2A Glu577Gln E577Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - PHC3 Ala458Pro A458P not reviewed Insufficiently evaluated not reviewed unknown Array rs34388560 131 10326 0.0126864 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC2A2 Asp4His D4H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SPATA16 ArgStop569SerGln RX569SQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC001200 Thr460Asn T460N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Gly701Arg G701R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10434 0.00373778 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LETM1 Gln101His Q101H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - -1 - 1 N - - BOD1L Val1162Ile V1162I not reviewed Insufficiently evaluated not reviewed unknown Array rs61995957 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - -4 - 1 N - - GPR125 Val1166Gly V1166G not reviewed Insufficiently evaluated not reviewed unknown Array rs3814416 5 10758 0.00046477 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CWH43 Ala626Val A626V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR591456 Pro187Leu P187L not reviewed Insufficiently evaluated not reviewed unknown Array rs61730247 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - FRAS1 Gln2549Arg Q2549R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PDLIM5 Arg513Trp R513W not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TET2 Ala1769Pro A1769P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 2 - 2 N - - LRIT3 Lys423Glu K423E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - UGT8 Lys415Glu K415E not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.149 - - 0 - 0 N - - TMEM155 Arg62His R62H not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.276 - - 1 - 1 N - - C4ORF45 Pro178Gln P178Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GALNT7 His253Gln H253Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34460464 62 10744 0.00577066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - STOX2 Ala219Thr A219T not reviewed Insufficiently evaluated not reviewed unknown Array rs61730738 256 10276 0.0249124 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.086 - - 1 - 0 N - - KLKB1 Met203Val M203V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHG4B Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - C5ORF55 Val42Ile V42I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZDHHC11 Arg365Cys R365C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10742 9.3092e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - BC113534 Ile68Val I68V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0947 Pro1662Gln P1662Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.759 - - 4 Y 1 N - - NUP155 His1105Arg H1105R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - NUP155 Met60Ile M60I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C7 Ser795Leu S795L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 6 Y 0 N - - CCL28 Arg69His R69H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.594 - - 1 - 1 N - - HCN1 Ala393Val A393V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - DQ579214 Ser202Ile S202I not reviewed Insufficiently evaluated not reviewed unknown Array rs71636218 1 118 0.00847458 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTC37 Asn1396Ser N1396S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - ARSK Gln525Arg Q525R not reviewed Insufficiently evaluated not reviewed unknown Array rs17084927 413 10758 0.03839 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAST Ile309Leu I309L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DMXL1 Asp1301Gly D1301G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - APBB3 Arg470Gln R470Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB1 Arg453Gln R453Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB1 Ala524Val A524V not reviewed Insufficiently evaluated not reviewed unknown Array rs17208383 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR3C1 Ser325Gly S325G not reviewed Insufficiently evaluated not reviewed unknown Array rs72542745 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - PDE6A Arg29Gln R29Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ZNF300 Ile482Val I482V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - -4 - 0 N - - CDHR2 Gly543Ser G543S not reviewed Insufficiently evaluated not reviewed unknown Array rs34485432 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2V2 Ser65Asn S65N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - TRIM7 Phe226Ser F226S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - MAK Pro520Ser P520S not reviewed Insufficiently evaluated not reviewed unknown Array rs567083 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - HIST1H1T Glu50Gly E50G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729268 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 6 Y 2 N - - ZNF311 Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.362 - - 1 - 1 N - - PSORS1C2 Leu3Phe L3F not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ITPR3 Arg774Cys R774C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA0240 Val738Met V738M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - CNPY3 Pro26Leu P26L not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - COL21A1 Gly665Val G665V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9460 0.000845665 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - KIAA0776 Lys719Arg K719R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - ASCC3 Tyr252Cys Y252C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - LAMA2 Arg1844Ser R1844S not reviewed Insufficiently evaluated not reviewed unknown Array rs56173620 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MAP3K5 Ile1214Thr I1214T not reviewed Insufficiently evaluated not reviewed unknown Array rs56379668 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HIVEP2 Val1605Leu V1605L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10452 0.000956754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGF2R Arg404Gln R404Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SLC22A1 Gly401Ser G401S not reviewed Insufficiently evaluated not reviewed unknown Array rs34130495 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - LPA His1861Cys H1861C not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SP4 Asn306Ser N306S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL6 Asp162Glu D162E not reviewed Insufficiently evaluated not reviewed unknown Array rs13306435 82 10758 0.00762223 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BMPER Gln335Ser Q335S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TXNDC3 Lys189Asn K189N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.053 - Y 1 - 1 N - - CDK13 Thr949Ala T949A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - URGCP Ser559Pro S559P not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 3 - 2 N - - NPC1L1 Asp273Tyr D273Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NACAD Thr854Ala T854A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CROT Val25Ala V25A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ZSCAN21 Val266Ile V266I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRIM56 Leu349Phe L349F not reviewed Insufficiently evaluated not reviewed unknown Array rs77167460 230 9798 0.0234742 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.274 - - 0 - 1 N - - LRRN3 Arg31Gln R31Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WNT2 Lys349Gln K349Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - C7ORF58 Thr81Ala T81A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC136 Glu683Gly E683G not reviewed Insufficiently evaluated not reviewed unknown Array 3 9986 0.00030042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - JHDM1D Ser700Tyr S700Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 9522 0.000315059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 5 Y 0 N - - KIAA1147 Phe389Leu F389L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - 0 - 1 N - - GSTK1 Arg128Gly R128G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - MLL3 Ala3556Thr A3556T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SOX7 Thr169Ser T169S not reviewed Insufficiently evaluated not reviewed unknown Array rs4841433 11 10726 0.00102554 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC18A1 Ala74Val A74V not reviewed Insufficiently evaluated not reviewed unknown Array rs17215815 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HTRA4 Ala144Val A144V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PXDNL Ile655Thr I655T not reviewed Insufficiently evaluated not reviewed unknown Array 185 9946 0.0186004 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UBXN2B Gly18Arg G18R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732916 14 5710 0.00245184 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC67 Val176Ile V176I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -4 - 0 N - - IL7 Ser96Ile S96I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.124 - - 5 Y 0 N - - RIMS2 Val198Ile V198I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9848 0.000101543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKHD1L1 Gly1436Arg G1436R not reviewed Insufficiently evaluated not reviewed unknown Array 8 9636 0.00083022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.555 - - 6 Y 1 N - - SYBU Glu567Asp E567D not reviewed Insufficiently evaluated not reviewed unknown Array 2 9918 0.000201653 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - DEPTOR Met166Val M166V not reviewed Insufficiently evaluated not reviewed unknown Array rs34068787 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR67 Met790Val M790V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 0 - 0 N - - PTK2 Arg206Gln R206Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP39 Gln376Lys Q376K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - RCL1 Leu282Arg L282R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - RANBP6 Leu160Val L160V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - BNC2 Pro623His P623H not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 5 Y 0 N - - CNTLN Thr962Ala T962A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - RUSC2 Gln183His Q183H not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - -1 - 1 N - - ANKRD18A Glu945Asp E945D not reviewed Insufficiently evaluated not reviewed unknown Array rs12341435 3 122 0.0245902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VPS13A Tyr365Cys Y365C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 6 Y 3 N - - ZNF510 Asn236Lys N236K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735010 30 10744 0.00279226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MURC Arg131His R131H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10740 0.000931098 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.787 - - 1 - 1 N - - KIF12 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNC Asp67Gly D67G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTLL11 Phe315Leu F315L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740840 71 10758 0.00659974 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - TTC16 Arg450Gln R450Q not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SLC27A4 Gly150Ser G150S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 2 - 1 N - - NUP188 Arg1345His R1345H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.922 - - 1 - 2 N - - GTF3C4 Gly234Arg G234R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEC16A SerGlyAla369Del SGA369Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EGFL7 Ser273Leu S273L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 6 Y 0 N - - PTGDS Glu90Gly E90G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PNPLA7 Arg863Gln R863Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GYG2 Arg373Cys R373C not reviewed Insufficiently evaluated not reviewed unknown Array rs17330993 68 8757 0.00776522 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - LANCL3 Lys312Met K312M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.963 - - 4 Y 2 N - - HDAC6 Asn1200Asp N1200D not reviewed Insufficiently evaluated not reviewed unknown Array 19 8761 0.0021687 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPP1R3F Gly467Arg G467R not reviewed Insufficiently evaluated not reviewed unknown Array 19 8702 0.00218341 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NHSL2 Arg601Cys R601C not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NAP1L3 Asp307Val D307V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DDX26B Thr641Ser T641S not reviewed Insufficiently evaluated not reviewed unknown Array rs34862419 18 8761 0.00205456 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.868 - - -2 - 2 N - - CLCNKB Arg395Trp R395W not reviewed Insufficiently evaluated not reviewed unknown Array rs34255952 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CLCNKB Leu647Pro L647P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - COL9A2 Met384Leu M384L not reviewed Insufficiently evaluated not reviewed unknown Array 72 10150 0.0070936 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - HIPK1 Gln629Stop Q629X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCHHL1 Gln294Stop Q294X not reviewed Insufficiently evaluated not reviewed unknown Array rs61749316 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - F5 Glu1530Ala E1530A not reviewed Insufficiently evaluated not reviewed unknown Array rs6007 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - F5 Arg980Leu R980L not reviewed Insufficiently evaluated not reviewed unknown Array rs9332605 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CACNA1S Arg683Cys R683C not reviewed Insufficiently evaluated not reviewed unknown Array rs35708442 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - BROX Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC16A9 Val68Shift V68Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPOCK2 Ser229Shift S229Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ROM1 Gln290Shift Q290Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - TNFRSF1A Pro305Shift P305Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - PRH1 Gln55Stop Q55X not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RERGL Tyr41Shift Y41Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DHH Ala63Gly A63G not reviewed Insufficiently evaluated not reviewed unknown Array 28 10756 0.0026032 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.144 Y Y 1 - 2 N - - AK310674 Asp81Shift D81Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SRGAP1 Gln361Shift Q361Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BRCA2 Ser976Ile S976I not reviewed Insufficiently evaluated not reviewed unknown Array rs70953663 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PIBF1 Ser37Shift S37Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC15A1 Ser612Shift S612Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - STARD9 Pro1994Shift P1994Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDAN1 Arg946Trp R946W not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - CDAN1 Ala912Val A912V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.267 Y Y 2 - 3 N - - PLIN1 Gln22Stop Q22X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RSL1D1 Glu286Shift E286Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOD2 Leu1007Shift L1007Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5743293 1 128 0.0078125 1 0 1 4 4 3 - - - - - 4 Y 3 Y 2 Y Y - - - - Y - 4 Y 3 N - - Three Nod2 variants, G908R, R702W, and a frameshift deletion mutation at L1007 (L1007fsinsC), have been linked to CD development. Although the precise mechanisms by which Nod2 promotes disease remain unclear, CD-associated human Nod2 variants exhibit reduced capacity to activate NF-κB following MDP stimulation, suggesting that the loss of Nod2 activation promotes CD. PLEKHG4 Arg201Trp R201W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 7 Y 3 N - - HSD11B2 Ser316Phe S316F not reviewed Insufficiently evaluated not reviewed unknown Array rs72650123 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.043 Y - 5 Y 1 N - - GAS8 Leu401Shift L401Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - P2RX5 Gln362Stop Q362X not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TMEM99 Leu251Shift L251Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT9 Gly75Glu G75E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - TTYH2 Ala409Shift A409Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs9892705 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITGB4 Val1365Ile V1365I not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.92 Y Y -4 - 4 N - - UNC13D Asn943Ser N943S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10730 0.00242311 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.802 Y Y 0 - 3 N - - GALR2 Pro370Shift P370Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66906990 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - METTL4 Leu250Shift L250Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DSC2 Ser864Leu S864L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - DSC2 Arg798Gln R798Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61731921 356 10758 0.0330917 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.433 Y Y 0 - 3 N - - ZNF236 Ala1730Shift A1730Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C19ORF34 Arg23Shift R23Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOTCH3 Thr540Met T540M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.601 Y Y 2 - 3 N - - APOC1 Pro28Shift P28Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs56487544 28 126 0.222222 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - ALMS1 Ser1064Pro S1064P not reviewed Insufficiently evaluated not reviewed unknown Array rs28730852 46 9772 0.00470733 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser28748Leu S28748L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ile21325Thr I21325T not reviewed Insufficiently evaluated not reviewed unknown Array rs55837610 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Lys19749Arg K19749R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg16579Lys R16579K not reviewed Insufficiently evaluated not reviewed unknown Array rs72646833 67 9778 0.00685212 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TTN Arg14259Gln R14259Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - STK11IP Ala243Shift A243Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL4A3 Ile165Thr I165T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9490 0.000105374 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL6A3 Val2820Ile V2820I not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - APP Thr278Shift T278Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - KRTAP13-1 Tyr30Stop Y30X not reviewed Insufficiently evaluated not reviewed unknown Array rs1985418 109 10758 0.010132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL6A2 Arg867Gln R867Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735831 17 10698 0.00158908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 0 - 4 N - - SH3BP1 Glu411Stop E411X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ARSA Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10432 0.00134202 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.445 Y Y 1 - 3 N - - FLNB Tyr121Phe Y121F not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y -4 - 4 N - - ALG3 Trp379Cys W379C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 7 Y 4 N - - CWH43 Lys696Shift K696Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MFSD8 Gly197Asp G197D not reviewed Insufficiently evaluated not reviewed unknown Array rs28544073 26 10754 0.00241771 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 4 Y 4 N - - DNAH5 Leu2235Val L2235V not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.968 Y Y 0 - 4 N - - PRDM9 Glu19Stop E19X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TGFBI Arg496Gly R496G not reviewed Insufficiently evaluated not reviewed unknown Array rs10057190 59 9818 0.00600937 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.951 Y - 6 Y 3 N - - SH3TC2 His696Arg H696R not reviewed Insufficiently evaluated not reviewed unknown Array rs17109261 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MAML1 Pro971Shift P971Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLT4 Arg1251Ser R1251S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.876 Y Y 3 - 4 N - - DSP Thr2767Asn T2767N not reviewed Insufficiently evaluated not reviewed unknown Array rs34884895 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 1 - 4 N - - ALDH5A1 Asp487Ala D487A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - HIST1H2BI Ala22Shift A22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C6ORF10 Ser118Shift S118Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL11A2 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.705 Y Y 0 - 3 N - - SYNE1 Met5377Leu M5377L not reviewed Insufficiently evaluated not reviewed unknown Array rs35987150 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -3 - 2 N - - LFNG Arg208Trp R208W not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 7 Y 4 N - - HPVC1 Ser102Shift S102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_181722 Ala102Shift A102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POR Gly338Ala G338A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KRIT1 Lys682Gln K682Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10750 0.00251163 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y Y -2 - 2 N - - OCM2 Gln32Stop Q32X not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AK097150 Ser88Shift S88Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRHPR Glu131Lys E131K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RGS3 Leu576Shift L576Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ENG Leu209Phe L209F not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.014 Y Y 0 - 2 N - - CHM Ala104Gly A104G not reviewed Insufficiently evaluated not reviewed unknown Array 23 8761 0.00262527 1 0 2 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 1 - 2 N - - SOX3 Pro103Thr P103T not reviewed Insufficiently evaluated not reviewed unknown Array 146 8289 0.0176137 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - AVPR2 Thr7Ser T7S not reviewed Insufficiently evaluated not reviewed unknown Array rs5196 291 8761 0.0332154 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TNFRSF4 Leu98Pro L98P not reviewed Insufficiently evaluated not reviewed unknown Array 14 10714 0.0013067 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCNN1D Arg109Cys R109C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740392 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.515 - - 8 Y 1 N - - ATAD3C Val16Ile V16I not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ATAD3B Met619Val M619V not reviewed Insufficiently evaluated not reviewed unknown Array 59 10752 0.00548735 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPHP4 Ser1300Asn S1300N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10112 0.000197784 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y - 0 - 1 N - - NPHP4 Thr623Ala T623A not reviewed Insufficiently evaluated not reviewed unknown Array rs35959882 10 10036 0.000996412 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 1 - 1 N - - PLEKHG5 Gly287Ser G287S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10078 0.00367136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNFRSF9 Ala176Asp A176D not reviewed Insufficiently evaluated not reviewed unknown Array rs9657979 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.743 - - 5 Y 1 N - - RBP7 Arg31His R31H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 1 N - - C1ORF127 Arg656Cys R656C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10738 0.00065189 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF127 Thr209Ile T209I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10728 0.00549963 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AADACL3 Val59Met V59M not reviewed Insufficiently evaluated not reviewed unknown Array 6 9944 0.000603378 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AADACL3 Arg157Gln R157Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 9718 0.00102902 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AADACL3 Arg181Gly R181G not reviewed Insufficiently evaluated not reviewed unknown Array 9 9672 0.000930521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZBTB17 Val89Met V89M not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - 0 - 2 N - - SPATA21 Arg467Gln R467Q not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - TCEB3 Ser705Gly S705G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IL28RA Ser494Arg S494R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - SLC30A2 Gly27Glu G27E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10752 0.00223214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPATCH3 Arg302Leu R302L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - IQCC Asp74Asn D74N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - -1 - 0 N - - GJB4 Phe69Leu F69L not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 0 - 3 N - - KIAA0754 Asn162Tyr N162Y not reviewed Insufficiently evaluated not reviewed unknown Array 117 9670 0.0120993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HIVEP3 Arg2330His R2330H not reviewed Insufficiently evaluated not reviewed unknown Array 167 9298 0.0179609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXJ3 Pro271Ser P271S not reviewed Insufficiently evaluated not reviewed unknown Array rs61735643 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - TMEM53 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array rs35524791 52 10758 0.00483361 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - IPP Arg249His R249H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729321 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 1 - 0 N - - SLC5A9 Ala242Val A242V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730945 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TXNDC12 Ile22Thr I22T not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTC22 Gly382Arg G382R not reviewed Insufficiently evaluated not reviewed unknown Array 20 3234 0.00618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - PRKAA2 Ile61Lys I61K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - C1ORF168 Met440Val M440V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8A Ala413Val A413V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - C1ORF87 His88Tyr H88Y not reviewed Insufficiently evaluated not reviewed unknown Array rs7528245 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BARHL2 Glu213Del E213Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CELSR2 Gly2222Arg G2222R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.126 - - 6 Y 0 N - - SORT1 Thr561Met T561M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPS8L3 Met35Ile M35I not reviewed Insufficiently evaluated not reviewed unknown Array rs17598321 241 10758 0.0224019 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - -1 - 2 N - - UBL4B Ala139Gly A139G not reviewed Insufficiently evaluated not reviewed unknown Array rs35483972 41 10752 0.00381324 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - DENND2D Ala398Thr A398T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PTPN22 Arg263Gln R263Q not reviewed Insufficiently evaluated not reviewed unknown Array rs33996649 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF161 Ala80Val A80V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK126833 Tyr7His Y7H not reviewed Insufficiently evaluated not reviewed unknown Array rs17576615 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FMO5 Arg506Ser R506S not reviewed Insufficiently evaluated not reviewed unknown Array rs28381223 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LINGO4 Arg371Trp R371W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746191 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - SMG5 Tyr44Cys Y44C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 6 Y 0 N - - FCRL2 Ile202Asn I202N not reviewed Insufficiently evaluated not reviewed unknown Array rs16839100 195 10756 0.0181294 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.77 - - 7 Y 1 N - - RCSD1 Thr230Asn T230N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF129 Gln236Lys Q236K not reviewed Insufficiently evaluated not reviewed unknown Array 58 9482 0.00611685 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNR Asp95His D95H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TDRD5 Met104Thr M104T not reviewed Insufficiently evaluated not reviewed unknown Array rs12066948 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.364 - - 2 - 1 N - - TDRD5 Phe239Val F239V not reviewed Insufficiently evaluated not reviewed unknown Array rs12069976 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - 3 - 1 N - - C1ORF106 Ser484Cys S484C not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AVPR1B Ile423Asn I423N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10670 0.000468603 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.589 - - 7 Y 1 N - - C1ORF186 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNA2 Ala595Thr A595T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAF3IP3 Glu75Gly E75G not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.544 - - 6 Y 1 N - - HHIPL2 Arg76His R76H not reviewed Insufficiently evaluated not reviewed unknown Array rs61740543 68 9926 0.00685069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ENAH Thr550Met T550M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.093 - - 2 - 0 N - - SCCPDH Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ZNF695 Ser86Pro S86P not reviewed Insufficiently evaluated not reviewed unknown Array 18 10286 0.00174995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR2T27 Asn294Lys N294K not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.085 - - 1 - 0 N - - MEIG1 Pro51Arg P51R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CUBN Ala2914Val A2914V not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ARMC3 Ser608Pro S608P not reviewed Insufficiently evaluated not reviewed unknown Array rs11013233 323 10758 0.0300242 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPC1 Pro192Leu P192L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - 7 Y 1 N - - ANUBL1 Pro725Ser P725S not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.114 - - 3 - 0 N - - REEP3 Gln171Arg Q171R not reviewed Insufficiently evaluated not reviewed unknown Array rs10995569 65 9680 0.00671488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 0 - 0 N - - TACR2 Arg323His R323H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732393 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SGPL1 Ala492Thr A492T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH2D4B His7Tyr H7Y not reviewed Insufficiently evaluated not reviewed unknown Array 14 10576 0.00132375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.402 - - -1 - 1 N - - FAM190B Ala746Thr A746T not reviewed Insufficiently evaluated not reviewed unknown Array rs61739462 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RNLS Ser217Gly S217G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - RNLS Asp207Glu D207E not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.337 - - -2 - 1 N - - RNLS Gln181Lys Q181K not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.093 - - -2 - 0 N - - KIF20B Glu622Ala E622A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - KIF20B His908Tyr H908Y not reviewed Insufficiently evaluated not reviewed unknown Array 23 10688 0.00215195 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM178A Tyr150Cys Y150C not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 6 Y 0 N - - CUEDC2 Arg203Cys R203C not reviewed Insufficiently evaluated not reviewed unknown Array 10 9650 0.00103627 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 8 Y 2 N - - XPNPEP1 Ala259Val A259V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NHLRC2 Ala285Thr A285T not reviewed Insufficiently evaluated not reviewed unknown Array 105 10738 0.00977836 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - ATRNL1 Ala1166Gly A1166G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SEC23IP Asp638His D638H not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - PLEKHA1 Asp250Asn D250N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - -1 - 0 N - - ZRANB1 His152Arg H152R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK1 Arg506His R506H not reviewed Insufficiently evaluated not reviewed unknown Array 3 9910 0.000302724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 1 - 2 N - - C10ORF92 Arg673Gln R673Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Ala5153Thr A5153T not reviewed Insufficiently evaluated not reviewed unknown Array 109 10498 0.0103829 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TOLLIP Ile237Leu I237L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -2 - 0 N - - OR52I1 Lys240Thr K240T not reviewed Insufficiently evaluated not reviewed unknown Array rs1876025 3 128 0.0234375 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - OR51I1 Ser295Arg S295R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735506 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - OR56B4 Val147Asp V147D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 8 Y 2 N - - OR6A2 Leu290Arg L290R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.688 - - 6 Y 1 N - - MICAL2 Ala1040Thr A1040T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729668 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3C2A Asn378Lys N378K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 1 - 2 N - - OTOG Arg431Gln R431Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRGPRX3 Arg18Cys R18C not reviewed Insufficiently evaluated not reviewed unknown Array rs7932708 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PAMR1 Lys58Arg K58R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CRY2 Ser590Asn S590N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR1H3 Val425Leu V425L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SSRP1 Arg529Cys R529C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 8 Y 2 N - - MPEG1 Ala13Val A13V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10084 0.00793336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR4D6 Arg64Trp R64W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR4D6 Val247Met V247M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.785 - - 0 - 1 N - - STX3 Arg261Trp R261W not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - GIF Gly65Arg G65R not reviewed Insufficiently evaluated not reviewed unknown Array rs11825834 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.95 - - 6 Y 2 N - - C11ORF48 Thr86Ile T86I not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VEGFB Asp85Asn D85N not reviewed Insufficiently evaluated not reviewed unknown Array rs61761267 82 10740 0.00763501 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - -1 - 1 N - - CCDC88B Arg1468Gly R1468G not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.39 - - 6 Y 1 N - - CTSF Arg205Leu R205L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - AF026488 Gly84Glu G84E not reviewed Insufficiently evaluated not reviewed unknown Array 64 10754 0.00595127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBC1D10C Val292Met V292M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AIP Val101Met V101M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10742 0.000837832 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.927 Y - 0 - 3 N - - MYEOV Ala89Val A89V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NADSYN1 Gly704Ser G704S not reviewed Insufficiently evaluated not reviewed unknown Array rs12282060 98 10756 0.00911119 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - NUMA1 Gly978Ser G978S not reviewed Insufficiently evaluated not reviewed unknown Array rs11235419 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 2 - 2 N - - C11ORF59 Leu98Phe L98F not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRRA1 Arg76Trp R76W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - CCDC90B Gly16Glu G16E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PANX1 Lys155Asn K155N not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIWIL4 Gln78Arg Q78R not reviewed Insufficiently evaluated not reviewed unknown Array rs12276921 32 10756 0.00297508 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIWIL4 Lys167Arg K167R not reviewed Insufficiently evaluated not reviewed unknown Array rs12272255 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - JRKL Asn158Lys N158K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZW10 Asp642Val D642V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 8 Y 2 N - - OR6T1 Ala228Asp A228D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - 5 Y 0 N - - OR10G7 Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.739 - - 1 - 1 N - - PANX3 Lys108Arg K108R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - -3 - 2 N - - ARHGAP32 Glu1140Gly E1140G not reviewed Insufficiently evaluated not reviewed unknown Array rs34661752 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NCAPD3 Val1312Met V1312M not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CACNA2D4 Thr869Met T869M not reviewed Insufficiently evaluated not reviewed unknown Array rs35331095 43 9658 0.00445227 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CACNA2D4 Arg863His R863H not reviewed Insufficiently evaluated not reviewed unknown Array rs36077411 46 9586 0.00479866 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.874 - - 1 - 2 N - - DYRK4 Asp454Val D454V not reviewed Insufficiently evaluated not reviewed unknown Array rs1801016 120 10758 0.0111545 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.206 - - 8 Y 1 N - - GALNT8 Gly245Glu G245E not reviewed Insufficiently evaluated not reviewed unknown Array rs34687270 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - LPCAT3 Ile349Thr I349T not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.336 - - 3 - 1 N - - C1R Asp446Tyr D446Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NANOG Gln39Lys Q39K not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.947 - - -2 - 2 N - - BC035635 Arg103Ser R103S not reviewed Insufficiently evaluated not reviewed unknown Array 1 62 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC12A Pro195Ser P195S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC7A Met247Leu M247L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -3 - 0 N - - TAS2R9 Val300Met V300M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - TAS2R20 Ile270Val I270V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - PRB4 Gln69Arg Q69R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCY6 Arg588Cys R588C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - MLL2 Ala3183Pro A3183P not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MLL2 Gly2569Ser G2569S not reviewed Insufficiently evaluated not reviewed unknown Array 15 9774 0.00153468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AQP6 Ala3Ser A3S not reviewed Insufficiently evaluated not reviewed unknown Array rs35413161 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - -1 - 0 N - - GPD1 Ile54Val I54V not reviewed Insufficiently evaluated not reviewed unknown Array rs2232202 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.988 - - -4 - 2 N - - HNRNPA1 GlyGly296Del GG296Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ITGA7 Met716Leu M716L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - LUM Pro65His P65H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TMPO Ala309Pro A309P not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - 2 - 1 N - - TMPO Ser491Ala S491A not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.793 - - -1 - 1 N - - TCTN1 Trp463Arg W463R not reviewed Insufficiently evaluated not reviewed unknown Array 17 9646 0.00176239 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 7 Y 0 N - - OAS1 Asp75Ala D75A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SRRM4 Cys389Gly C389G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10064 0.000596184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RPLP0 Val276Leu V276L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.595 - - 0 - 1 N - - PITPNM2 Val646Ile V646I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001083900 Val2883Leu V2883L not reviewed Insufficiently evaluated not reviewed unknown Array rs73221409 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSPC1 Thr140Ile T140I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 3 - 1 N - - ZMYM2 Ile978Val I978V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -4 - 0 N - - MIPEP Met504Val M504V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - WASF3 Ile437Val I437V not reviewed Insufficiently evaluated not reviewed unknown Array 59 10746 0.00549041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WBP4 Lys365Asn K365N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 1 - 1 N - - C13ORF30 Arg134Cys R134C not reviewed Insufficiently evaluated not reviewed unknown Array rs35889214 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYSLTR2 Met201Val M201V not reviewed Insufficiently evaluated not reviewed unknown Array rs41347648 205 10758 0.0190556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - GPC6 Met331Leu M331L not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.768 Y - -3 - 2 N - - ABCC4 Arg398Cys R398C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYO16 Pro1290Leu P1290L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - OR4K5 Val223Ile V223I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4K17 His22Arg H22R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JPH4 Pro482Ser P482S not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - CIDEB Arg122Trp R122W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - LTB4R2 Arg51Trp R51W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - RIPK3 Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NYNRIN Ala597Gly A597G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10050 0.000398009 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - NKX2-1 Leu64Ile L64I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10622 0.000941442 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - FSCB Arg821Cys R821C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DDHD1 Arg570Gln R570Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - C14ORF135 Leu95Phe L95F not reviewed Insufficiently evaluated not reviewed unknown Array 47 9614 0.0048887 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Thr2866Met T2866M not reviewed Insufficiently evaluated not reviewed unknown Array 134 9788 0.0136902 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - SYNE2 Ile3008Thr I3008T not reviewed Insufficiently evaluated not reviewed unknown Array 113 9472 0.0119299 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - GPHN Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.38 - Y 0 - 2 N - - GALNTL1 Val427Met V427M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC8A3 Glu853Asp E853D not reviewed Insufficiently evaluated not reviewed unknown Array rs36097312 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -2 - 0 N - - ENTPD5 Lys314Arg K314R not reviewed Insufficiently evaluated not reviewed unknown Array rs17094434 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.576 - - -3 - 1 N - - LTBP2 Pro262Leu P262L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10752 0.00241815 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPN21 Val426Ile V426I not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC88C Pro1706Ser P1706S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10198 0.000294175 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - C14ORF49 Ala683Asp A683D not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATG2B His218Arg H218R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9792 0.000102124 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF177 Glu11Gln E11Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8009159 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DEGS2 Ala195Val A195V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10752 0.00325521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WARS Pro330Leu P330L not reviewed Insufficiently evaluated not reviewed unknown Array rs11541753 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 7 Y 0 N - - WDR25 Ala204Thr A204T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - TECPR2 Leu1187Phe L1187F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - BAG5 His4Arg H4R not reviewed Insufficiently evaluated not reviewed unknown Array 79 9920 0.00796371 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0284 Ala259Val A259V not reviewed Insufficiently evaluated not reviewed unknown Array rs41304371 83 10248 0.00809914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0284 Pro854Ala P854A not reviewed Insufficiently evaluated not reviewed unknown Array rs62641739 65 10052 0.00646637 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.235 - - 2 - 1 N - - AHNAK2 Arg5196His R5196H not reviewed Insufficiently evaluated not reviewed unknown Array 84 9974 0.0084219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 1 - 2 N - - AHNAK2 Gly5072Arg G5072R not reviewed Insufficiently evaluated not reviewed unknown Array rs2819420 26 10326 0.00251792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.574 - - 6 Y 1 N - - AHNAK2 Glu3504Val E3504V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK2 Val3485Ala V3485A not reviewed Insufficiently evaluated not reviewed unknown Array 1 9952 0.000100482 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - AHNAK2 PheGly3483TyrArg FG3483YR not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AHNAK2 Ala702Val A702V not reviewed Insufficiently evaluated not reviewed unknown Array rs2819444 32 9964 0.00321156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.219 - - 2 - 1 N - - MTA1 Val556Met V556M not reviewed Insufficiently evaluated not reviewed unknown Array 94 10702 0.0087834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RYR3 Asn2497Ser N2497S not reviewed Insufficiently evaluated not reviewed unknown Array rs61996331 12 9812 0.00122299 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AQR His282Arg H282R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - PLCB2 Arg598His R598H not reviewed Insufficiently evaluated not reviewed unknown Array rs8025153 32 10752 0.00297619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASC5 Ile377Val I377V not reviewed Insufficiently evaluated not reviewed unknown Array 21 9474 0.00221659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SORD Arg91Cys R91C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPATA5L1 Ala572Val A572V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - SPATA5L1 Arg620Gln R620Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - SQRDL His163Tyr H163Y not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - CEP152 Ala1109Pro A1109P not reviewed Insufficiently evaluated not reviewed unknown Array 31 10146 0.00305539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC004103 Gln41Lys Q41K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AP4E1 Thr810Ile T810I not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CGNL1 Ala596Thr A596T not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGDCC3 Pro738Ser P738S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10750 0.004 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.958 - - 3 - 2 N - - CYP1A2 Ser18Cys S18C not reviewed Insufficiently evaluated not reviewed unknown Array rs17861152 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 3 - 1 N - - CSPG4 Met679Val M679V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10754 0.00334759 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - TMC3 Asp39Asn D39N not reviewed Insufficiently evaluated not reviewed unknown Array 1 9744 0.000102627 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFTUD1 Val198Ala V198A not reviewed Insufficiently evaluated not reviewed unknown Array 41 9782 0.00419137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TM6SF1 Gly99Asp G99D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 4 Y 1 N - - ALPK3 Arg1870Trp R1870W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - AGBL1 Ser762Thr S762T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10008 0.00159872 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - -2 - 0 N - - MFGE8 Met113Thr M113T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CHD2 Arg1788His R1788H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 1 - 2 N - - LRRK1 Val1185Gly V1185G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10506 9.5183e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BAIAP3 Gln1132His Q1132H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10664 0.00028132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TELO2 Pro278Ala P278A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.248 - - 2 - 1 N - - E4F1 Ala118Thr A118T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.834 - - 1 - 1 N - - PRSS27 Arg106Gln R106Q not reviewed Insufficiently evaluated not reviewed unknown Array 81 10754 0.00753208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - SRRM2 Ser395Pro S395P not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - SRRM2 Leu1510Val L1510V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM100A Gly133Asp G133D not reviewed Insufficiently evaluated not reviewed unknown Array 8 9936 0.000805152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM100A Ala115Thr A115T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10084 0.00128917 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ROGDI Asp131Glu D131E not reviewed Insufficiently evaluated not reviewed unknown Array 234 10758 0.0217513 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - -2 - 0 N - - ABCC1 Arg230Gln R230Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8187848 26 9780 0.00265849 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMG1 His2826Tyr H2826Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10122 0.000493973 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EEF2K Ala191Asp A191D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 5 Y 2 N - - IL4R Ser786Pro S786P not reviewed Insufficiently evaluated not reviewed unknown Array rs1805014 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - SH2B1 Pro16Ser P16S not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - CD2BP2 Thr88Ser T88S not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - ZNF267 Arg595Trp R595W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD26P1 Leu350Met L350M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PHKB Asn732Ser N732S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 0 - 1 N - - CCL17 Val67Met V67M not reviewed Insufficiently evaluated not reviewed unknown Array rs34379253 252 10758 0.0234244 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - FHOD1 Ser358Cys S358C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - AARS Pro234Ser P234S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 3 - 2 N - - HYDIN Thr2520Leu T2520L not reviewed Insufficiently evaluated not reviewed unknown Array rs61454592 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001101347 Ile90Thr I90T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0182 Arg155His R155H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLHDC4 Glu416Lys E416K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735154 205 10752 0.0190662 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.565 - - 0 - 1 N - - GEMIN4 Arg91Gln R91Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - P2RX1 Arg381His R381H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731001 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ZNF594 His720Arg H720R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 1 - 0 N - - ZNF594 Met718Ile M718I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - -1 - 1 N - - ZNF594 Leu701Ile L701I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -2 - 0 N - - NLRP1 Gly388Glu G388E not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - ASGR2 Asn234Tyr N234Y not reviewed Insufficiently evaluated not reviewed unknown Array rs35381090 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NEURL4 Ser26Arg S26R not reviewed Insufficiently evaluated not reviewed unknown Array 2 80 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNK1 Arg496Gly R496G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH9 Ala3630Ser A3630S not reviewed Insufficiently evaluated not reviewed unknown Array rs62639705 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - SLFN13 Gly456Glu G456E not reviewed Insufficiently evaluated not reviewed unknown Array rs12939048 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - GAS2L2 Arg460Cys R460C not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 8 Y 0 N - - GPR179 Arg1294Gln R1294Q not reviewed Insufficiently evaluated not reviewed unknown Array 117 9774 0.0119705 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.155 - - 0 - 0 N - - LASP1 Gly153Asp G153D not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERBB2 Glu1244Lys E1244K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - CASC3 Pro613Ala P613A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - KRT19 Asn79Lys N79K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB16 Gly207Asn G207N not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGA2B Glu671Lys E671K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ACBD4 Pro118Leu P118L not reviewed Insufficiently evaluated not reviewed unknown Array rs901754 17 10226 0.00166243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ARHGAP27 Gly290Arg G290R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OSBPL7 Thr506Ser T506S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - -2 - 2 N - - SP6 Ala346Val A346V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10734 0.000931619 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - AF532777 Trp24Arg W24R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - B4GALNT2 Arg491His R491H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.947 - - 1 - 2 N - - LRRC59 Asn109Tyr N109Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 5 Y 0 N - - MYCBPAP Ala115Val A115V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.201 - - 2 - 1 N - - CACNA1G Pro1217Ala P1217A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10018 0.00019964 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - MED13 Ile95Val I95V not reviewed Insufficiently evaluated not reviewed unknown Array rs35435022 85 9626 0.00883025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RGS9 Ala475Val A475V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10280 0.0040856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 2 - 0 N - - C17ORF80 Gly226Ser G226S not reviewed Insufficiently evaluated not reviewed unknown Array rs9902726 150 10756 0.0139457 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FDXR Val180Met V180M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.9 - - 0 - 2 N - - NUP85 Thr248Ala T248A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 1 - 0 N - - TMC6 Gly694Ser G694S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - BIRC5 Ala9Ser A9S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10754 0.00148782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1QTNF1 Arg241Gln R241Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35035542 137 10758 0.0127347 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - RNF213 Ser1347Leu S1347L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C17ORF56 Arg226Trp R226W not reviewed Insufficiently evaluated not reviewed unknown Array rs61745844 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAHCC1 Arg2029His R2029H not reviewed Insufficiently evaluated not reviewed unknown Array 31 8324 0.00372417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RFNG Ala327Thr A327T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CCDC57 Ala216Thr A216T not reviewed Insufficiently evaluated not reviewed unknown Array rs35768211 163 9842 0.0165617 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAPPC8 Gln655His Q655H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC14A2 Thr439Ser T439S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - WDR7 Ala287Ser A287S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - SERPINBP1 Leu35Val L35V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDH19 Asp71Glu D71E not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - CCDC102B Gly235Ser G235S not reviewed Insufficiently evaluated not reviewed unknown Array rs61910729 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C2CD4C Pro265Leu P265L not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ODF3L2 Ala255Ser A255S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - -1 - 1 N - - MED16 Ala789Thr A789T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10506 0.000190367 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - REXO1 Pro313Thr P313T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MOBKL2A Thr111Met T111M not reviewed Insufficiently evaluated not reviewed unknown Array rs34147715 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - ZNF554 Trp150Leu W150L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9592 0.00104253 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 5 Y 1 N - - C19ORF29 Ala131Val A131V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9566 0.000104536 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TJP3 Thr32Ala T32A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APBA3 Ser171Tyr S171Y not reviewed Insufficiently evaluated not reviewed unknown Array 45 10752 0.00418527 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.799 - - 5 Y 1 N - - PLIN4 Lys335Arg K335R not reviewed Insufficiently evaluated not reviewed unknown Array 191 9790 0.0195097 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.832 - - -3 - 1 N - - PLIN4 Val333Leu V333L not reviewed Insufficiently evaluated not reviewed unknown Array 6 9768 0.00061425 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - PLIN4 Met331Val M331V not reviewed Insufficiently evaluated not reviewed unknown Array 662 9728 0.068051 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - 0 - 0 N - - PLIN4 Gly329Ser G329S not reviewed Insufficiently evaluated not reviewed unknown Array rs56366613 1673 9652 0.173332 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - PLIN4 Ser213Pro S213P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - SEMA6B Thr579Ala T579A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - 1 - 1 N - - DPP9 Ala15Val A15V not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAFB2 Arg647Gln R647Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10678 9.365e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - C3 Leu1549Met L1549M not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.263 Y - -3 - 2 N - - SH2D3A Pro229Leu P229L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Val13156Ile V13156I not reviewed Insufficiently evaluated not reviewed unknown Array 75 9678 0.00774954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FBXL12 Glu320Asp E320D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -2 - 0 N - - NM_001013640 Val3Ala V3A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - 2 - 1 N - - S1PR5 Gly334Ser G334S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KRI1 Ala490Thr A490T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF653 Gly349Val G349V not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 8 Y 0 N - - CNN1 Pro154Leu P154L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - RFX1 Pro559Ser P559S not reviewed Insufficiently evaluated not reviewed unknown Array 94 10754 0.00874093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - ANKLE1 Leu524Val L524V not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ISYNA1 Gly160Arg G160R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - 6 Y 1 N - - NCAN Thr875Ser T875S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LPAR2 Arg298Gln R298Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - ZNF254 Gln199Glu Q199E not reviewed Insufficiently evaluated not reviewed unknown Array 47 10736 0.00437779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TSHZ3 Ala685Thr A685T not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - RHPN2 His357Leu H357L not reviewed Insufficiently evaluated not reviewed unknown Array 299 10758 0.0277933 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - RHPN2 Ala353Met A353M not reviewed Insufficiently evaluated not reviewed unknown Array 1 26 0.0384615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF302 Lys366Arg K366R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10700 0.00719626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF792 Glu214Lys E214K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - ALKBH6 Thr177Lys T177K not reviewed Insufficiently evaluated not reviewed unknown Array rs61742166 51 10376 0.00491519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPTBN4 Ser2272Ala S2272A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LTBP4 Gly480Asp G480D not reviewed Insufficiently evaluated not reviewed unknown Array 34 10034 0.00338848 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK097370 Ser7Pro S7P not reviewed Insufficiently evaluated not reviewed unknown Array rs73048904 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CYP2F1 Ala351Met A351M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - B3GNT8 Arg30Trp R30W not reviewed Insufficiently evaluated not reviewed unknown Array rs7249410 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEACAM21 Ser268Arg S268R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10708 0.00149421 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - CEACAM6 Ala46Thr A46T not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD79A Ala10Asp A10D not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.193 - - 5 Y 0 N - - PSG4 Gly86Ser G86S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSG9 Ser226Ile S226I not reviewed Insufficiently evaluated not reviewed unknown Array 316 10754 0.0293844 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 5 Y 0 N - - LYPD3 Asn118Ser N118S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - PHLDB3 Glu516Gly E516G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XRCC1 Pro309Ser P309S not reviewed Insufficiently evaluated not reviewed unknown Array rs25491 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF224 Arg335His R335H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.785 - - 1 - 1 N - - QPCTL Pro214Leu P214L not reviewed Insufficiently evaluated not reviewed unknown Array rs28708996 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - RSPH6A AspGlu395GlyGluGluAspGln DE395GEEDQ not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC8 Gln200Leu Q200L not reviewed Insufficiently evaluated not reviewed unknown Array 100 10752 0.0093006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 5 Y 2 N - - NAPA Met244Ile M244I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - CABP5 Pro144Arg P144R not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRC GlnAsp322His QD322H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYH14 Ala479Thr A479T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - NR1H2 Ser2Phe S2F not reviewed Insufficiently evaluated not reviewed unknown Array rs41379547 54 10056 0.00536993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF578 Cys373Tyr C373Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61739625 62 10756 0.00576422 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK056776 Leu49Ser L49S not reviewed Insufficiently evaluated not reviewed unknown Array rs1661938 2 80 0.025 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF813 Glu78Gly E78G not reviewed Insufficiently evaluated not reviewed unknown Array 83 10720 0.00774254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 6 Y 0 N - - PPP6R1 Ser818Leu S818L not reviewed Insufficiently evaluated not reviewed unknown Array 28 9998 0.00280056 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF552 Thr269Met T269M not reviewed Insufficiently evaluated not reviewed unknown Array rs34952901 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.155 - - 2 - 0 N - - AK094748 Leu377Ser L377S not reviewed Insufficiently evaluated not reviewed unknown Array rs11879864 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZSCAN18 Asp256Glu D256E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - -2 - 1 N - - ZNF324 Gly530Ala G530A not reviewed Insufficiently evaluated not reviewed unknown Array rs61731807 60 10752 0.00558036 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 1 - 1 N - - MZF1 Ile292Ser I292S not reviewed Insufficiently evaluated not reviewed unknown Array 112 10744 0.0104244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NBAS Glu818Gly E818G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 6 Y 0 N - - ITSN2 Gln477Glu Q477E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DTNB Val53Ile V53I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9692 0.000103177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - C2ORF70 Glu171Lys E171K not reviewed Insufficiently evaluated not reviewed unknown Array 4 9936 0.000402576 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRE Val250Ile V250I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - -4 - 0 N - - ATL2 Ser524Phe S524F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - BMP10 Leu4Val L4V not reviewed Insufficiently evaluated not reviewed unknown Array rs6706460 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF638 Lys1850Glu K1850E not reviewed Insufficiently evaluated not reviewed unknown Array 9 10756 0.000836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - NAT8 Cys4Tyr C4Y not reviewed Insufficiently evaluated not reviewed unknown Array 62 10690 0.00579981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AUP1 Ala55Thr A55T not reviewed Insufficiently evaluated not reviewed unknown Array 155 10428 0.0148638 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - HK2 Arg722Cys R722C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 8 Y 0 N - - NPAS2 Pro822Leu P822L not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMEM182 Cys59Ser C59S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - MYO7B Val1348Ala V1348A not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - MYO7B Asp1625Asn D1625N not reviewed Insufficiently evaluated not reviewed unknown Array 57 10492 0.00543271 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - GPR148 Ile292Thr I292T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.502 - - 3 - 1 N - - LYPD1 Lys133Glu K133E not reviewed Insufficiently evaluated not reviewed unknown Array 27 9942 0.00271575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARL6IP6 Lys69Arg K69R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LY75 Ala495Thr A495T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COBLL1 Glu598Asp E598D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HOXD3 Phe3Ser F3S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.402 - - 5 Y 1 N - - DNAH7 Gln313Arg Q313R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9504 0.000210437 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - 0 - 1 N - - PARD3B Ser368Leu S368L not reviewed Insufficiently evaluated not reviewed unknown Array 14 9666 0.00144838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - PTH2R Ala225Ser A225S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - FN1 Ile2212Val I2212V not reviewed Insufficiently evaluated not reviewed unknown Array rs17449032 197 10758 0.018312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - VIL1 Lys250Thr K250T not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.561 - - 3 - 1 N - - STK36 Leu840Val L840V not reviewed Insufficiently evaluated not reviewed unknown Array rs36099639 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - SPEG Arg1340Gln R1340Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34994343 105 10184 0.0103103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACSL3 Lys265Arg K265R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - SCG2 Gly324Glu G324E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 6 Y 2 N - - DIS3L2 Asp89Gly D89G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 4 Y 0 N - - OR6B2 Ser217Pro S217P not reviewed Insufficiently evaluated not reviewed unknown Array rs61730687 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - C20ORF29 Arg140Gln R140Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7269911 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ESF1 Arg795Gln R795Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - C20ORF78 Arg17Lys R17K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C20ORF3 Ile108Thr I108T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ENTPD6 Ala153Thr A153T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUSP15 Ile18Val I18V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BPIL1 Ala43Thr A43T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 1 - 2 N - - BPIL1 Val197Met V197M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 0 - 2 N - - SNTA1 Thr378Ile T378I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - 3 - 1 N - - MYH7B Thr1331Met T1331M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10566 0.000283929 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPNE1 His221Arg H221R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - DLGAP4 Thr51Ala T51A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RPN2 Val34Met V34M not reviewed Insufficiently evaluated not reviewed unknown Array rs35557453 6 10758 0.000557724 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - L3MBTL1 Val714Met V714M not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYP24A1 Ala510Val A510V not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 2 - 2 N - - SPO11 Thr36Pro T36P not reviewed Insufficiently evaluated not reviewed unknown Array rs28368062 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LAMA5 Met2620Ile M2620I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10662 9.3791e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - -1 - 2 N - - C20ORF166 Thr86Met T86M not reviewed Insufficiently evaluated not reviewed unknown Array 46 10240 0.00449219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPBWR2 Gly247Arg G247R not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.401 - - 6 Y 1 N - - NPBWR2 Leu10His L10H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.149 - - 6 Y 0 N - - KRTAP19-4 Tyr54Cys Y54C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GART Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 2 - 2 N - - MORC3 Pro504Ser P504S not reviewed Insufficiently evaluated not reviewed unknown Array 4 9578 0.000417623 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - DSCR6 Pro132Leu P132L not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - DSCR6 Pro19Ser P19S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSMG1 Ile166Val I166V not reviewed Insufficiently evaluated not reviewed unknown Array rs8131611 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - WRB Val110Ile V110I not reviewed Insufficiently evaluated not reviewed unknown Array rs35946782 231 10758 0.0214724 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MX2 Pro73Ala P73A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 2 - 0 N - - ZNF295 Thr453Ala T453A not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ZNF295 Pro209Leu P209L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - TRPM2 His995Asp H995D not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCM3AP Gln1355Arg Q1355R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - XKR3 Trp123Leu W123L not reviewed Insufficiently evaluated not reviewed unknown Array 62 9586 0.00646777 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TSSK2 Ser270Leu S270L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DGCR8 Ala146Val A146V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - BC065749 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 7 Y 2 N - - SEC14L4 Gly325Arg G325R not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.08 - - 6 Y 0 N - - SEC14L4 Leu303Phe L303F not reviewed Insufficiently evaluated not reviewed unknown Array 137 10684 0.0128229 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.039 - - 0 - 0 N - - INPP5J Leu897Phe L897F not reviewed Insufficiently evaluated not reviewed unknown Array 179 9808 0.0182504 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - PLA2G3 His307Tyr H307Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2232180 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - -1 - 2 N - - SFI1 Gln372Lys Q372K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10344 0.000483372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - -2 - 0 N - - C22ORF30 Asp1367Tyr D1367Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF30 Asp980Gly D980G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GRAP2 Gly247Ser G247S not reviewed Insufficiently evaluated not reviewed unknown Array 142 10758 0.0131995 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - MEI1 Glu657Gln E657Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17002655 205 9892 0.0207238 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CYP2D7P1 Ser32Ala S32A not reviewed Insufficiently evaluated not reviewed unknown Array rs2982057 1 120 0.00833333 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EFCAB6 Met670Ile M670I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PNPLA5 Cys67Gly C67G not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 7 Y 1 N - - UPK3A Gln149His Q149H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - -1 - 0 N - - CERK Ile191Val I191V not reviewed Insufficiently evaluated not reviewed unknown Array rs16995615 125 10756 0.0116214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TUBGCP6 Leu104Pro L104P not reviewed Insufficiently evaluated not reviewed unknown Array rs8137873 236 10754 0.0219453 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.402 - - 7 Y 1 N - - SBF1 Met524Leu M524L not reviewed Insufficiently evaluated not reviewed unknown Array 69 10202 0.00676338 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.021 - - -3 - 0 N - - CPT1B Arg563Gln R563Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 0 - 2 N - - CPT1B Gln212Arg Q212R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SRGAP3 Ser894Gly S894G not reviewed Insufficiently evaluated not reviewed unknown Array 45 10668 0.00421822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAND2 Tyr473Cys Y473C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBLN2 Met490Arg M490R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10236 0.000195388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C3ORF19 Lys257Thr K257T not reviewed Insufficiently evaluated not reviewed unknown Array rs17040068 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD28 Ala924Thr A924T not reviewed Insufficiently evaluated not reviewed unknown Array 13 9716 0.001338 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNTL2 Arg618His R618H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - SUSD5 Arg216Lys R216K not reviewed Insufficiently evaluated not reviewed unknown Array rs9872477 47 9762 0.00481459 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.407 - - -3 - 1 N - - DLEC1 Pro1315Gln P1315Q not reviewed Insufficiently evaluated not reviewed unknown Array 39 10012 0.00389532 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - GORASP1 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 1 - 1 N - - CCDC13 Lys623Glu K623E not reviewed Insufficiently evaluated not reviewed unknown Array 65 10756 0.00604314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - CCBP2 Arg320His R320H not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - NCKIPSD Leu194Val L194V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - AMIGO3 Asp130Asn D130N not reviewed Insufficiently evaluated not reviewed unknown Array rs35926560 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - IP6K1 Asn15Ser N15S not reviewed Insufficiently evaluated not reviewed unknown Array rs34785187 64 10758 0.00594906 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - IFRD2 Thr312Ala T312A not reviewed Insufficiently evaluated not reviewed unknown Array rs34377144 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PARP3 Lys25Del K25Del not reviewed Insufficiently evaluated not reviewed unknown Array rs34377869 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC113059 Thr50Asn T50N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNTN Lys76Glu K76E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 0 - 2 N - - FRMD4B Gln110Glu Q110E not reviewed Insufficiently evaluated not reviewed unknown Array 38 9834 0.00386414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM86DP Thr204Met T204M not reviewed Insufficiently evaluated not reviewed unknown Array 2 78 0.025641 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ROBO2 Ser182Arg S182R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.761 Y - 3 - 2 N - - CHMP2B Ser187Asn S187N not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 0 - 1 N - - FILIP1L Ser522Ala S522A not reviewed Insufficiently evaluated not reviewed unknown Array 4 9506 0.000420786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SENP7 His1016Arg H1016R not reviewed Insufficiently evaluated not reviewed unknown Array 82 10756 0.00762365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIDT1 Ala456Ser A456S not reviewed Insufficiently evaluated not reviewed unknown Array rs61732220 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - KIAA1407 Arg374Gln R374Q not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 1 N - - POLQ Gly1751Trp G1751W not reviewed Insufficiently evaluated not reviewed unknown Array rs35775179 96 10754 0.00892691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLQ Arg516Cys R516C not reviewed Insufficiently evaluated not reviewed unknown Array rs34624267 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CD86 Asp323Asn D323N not reviewed Insufficiently evaluated not reviewed unknown Array rs9282648 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PARP15 Arg629Pro R629P not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADCY5 Ile642Val I642V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - MYLK Ala743Thr A743T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - RPN1 Lys465Arg K465R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - C3ORF25 Arg173His R173H not reviewed Insufficiently evaluated not reviewed unknown Array 68 9718 0.00699732 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL6A6 Ile296Thr I296T not reviewed Insufficiently evaluated not reviewed unknown Array 78 9652 0.00808123 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 3 - 2 N - - PPP2R3A Ile564Val I564V not reviewed Insufficiently evaluated not reviewed unknown Array rs35923084 149 10756 0.0138527 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HLTF Asp269Gly D269G not reviewed Insufficiently evaluated not reviewed unknown Array 241 10756 0.0224061 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 4 Y 0 N - - TM4SF4 Asn138Ser N138S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9774 0.000102312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GPR149 Arg468Ser R468S not reviewed Insufficiently evaluated not reviewed unknown Array 13 9980 0.00130261 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.044 - - 3 - 0 N - - ATP11B Asp986Gly D986G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - BC001200 Arg637Gln R637Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCN2 Leu440Phe L440F not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 0 - 1 N - - ATP13A5 Ala611Thr A611T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM43A Glu293Gln E293Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10678 0.00252856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - -2 - 1 N - - FGFRL1 Gly428Arg G428R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10646 0.000187863 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - ADD1 Val559Met V559M not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1QTNF7 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - AK308144 Arg593Cys R593C not reviewed Insufficiently evaluated not reviewed unknown Array rs16895411 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - TBC1D1 Ser585Leu S585L not reviewed Insufficiently evaluated not reviewed unknown Array rs61752489 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.963 - - 6 Y 2 N - - AASDH Ala705Val A705V not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SPINK2 Thr33Ala T33A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 1 - 2 N - - UGT2B4 Met137Lys M137K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 4 Y 2 N - - FRAS1 Arg3267Gln R3267Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729366 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ANXA3 Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array rs41278059 217 10758 0.020171 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRKG2 Lys288Asn K288N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - 1 - 1 N - - HPGDS Val187Ile V187I not reviewed Insufficiently evaluated not reviewed unknown Array 209 10758 0.0194274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDHA2 Pro357Ser P357S not reviewed Insufficiently evaluated not reviewed unknown Array rs34719289 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ALPK1 Phe112Del F112Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LARP7 Glu22Del E22Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EXOSC9 Ala435Thr A435T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LARP1B Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 1 - 0 N - - LRBA Ser1301Cys S1301C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FGA Gln784Lys Q784K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - -2 - 1 N - - TLL1 Ser817Gly S817G not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 2 - 0 N - - MFAP3L Ala350Val A350V not reviewed Insufficiently evaluated not reviewed unknown Array rs61997061 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - WDR17 His316Gln H316Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10730 0.000465983 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - SPATA4 Ser159Gly S159G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 2 - 0 N - - ODZ1 Glu2054Asp E2054D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WWC2 Pro954Leu P954L not reviewed Insufficiently evaluated not reviewed unknown Array 66 10750 0.00613953 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - FAT1 Ile3533Val I3533V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9698 0.000103114 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 Y - -4 - 1 N - - FAT1 Gly2842Ser G2842S not reviewed Insufficiently evaluated not reviewed unknown Array 4 9914 0.000403469 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - SLC12A7 Arg535His R535H not reviewed Insufficiently evaluated not reviewed unknown Array 54 10658 0.00506662 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.904 - - 1 - 2 N - - KIAA0947 Pro1696Thr P1696T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10332 0.00222609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - ROPN1L Thr167Met T167M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.245 - - 2 - 1 N - - ZFR Arg376Leu R376L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 6 Y 2 N - - UGT3A1 Arg259Trp R259W not reviewed Insufficiently evaluated not reviewed unknown Array rs61733483 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DAB2 Val495Met V495M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DHX29 His577Tyr H577Y not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.571 - - -1 - 1 N - - NM_173667 Pro122Ser P122S not reviewed Insufficiently evaluated not reviewed unknown Array 106 9904 0.0107027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.161 - - 3 - 0 N - - MAST4 Ala1523Gly A1523G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCHO2 Lys765Arg K765R not reviewed Insufficiently evaluated not reviewed unknown Array 15 9522 0.0015753 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMEM174 His208Gln H208Q not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POLK Ser423Arg S423R not reviewed Insufficiently evaluated not reviewed unknown Array rs35257416 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - BHMT2 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array rs58580238 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - CMYA5 Pro959Leu P959L not reviewed Insufficiently evaluated not reviewed unknown Array 15 9712 0.00154448 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CMYA5 Ala1696Gly A1696G not reviewed Insufficiently evaluated not reviewed unknown Array 14 9632 0.00145349 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - DQ579214 Gly269Ser G269S not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP6AP1L Val75Phe V75F not reviewed Insufficiently evaluated not reviewed unknown Array rs16899484 132 10758 0.0122699 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.239 - - 3 - 1 N - - SPATA9 Arg110Cys R110C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 8 Y 2 N - - CAST Thr428Met T428M not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CCDC112 Glu384Gln E384Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TICAM2 Val246Ala V246A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEMA6A Gly307Ala G307A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10106 0.000197902 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - FAM170A Leu104Phe L104F not reviewed Insufficiently evaluated not reviewed unknown Array 18 9868 0.00182408 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM170A Val222Leu V222L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10370 0.00173578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.567 - - 0 - 1 N - - GRAMD3 Ala391Thr A391T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - PRRC1 Gln326His Q326H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - PHF15 Pro132Leu P132L not reviewed Insufficiently evaluated not reviewed unknown Array rs35545286 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPOCK1 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - KDM3B Ala1198Ser A1198S not reviewed Insufficiently evaluated not reviewed unknown Array rs28561931 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - MATR3 Asn787Ser N787S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.891 Y - 0 - 3 N - - SLC35A4 Arg141His R141H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - PCDHB18 Pro625Arg P625R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SH3RF2 Ile585Thr I585T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - AFAP1L1 Ile243Met I243M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -1 - 2 N - - TIGD6 Leu74Val L74V not reviewed Insufficiently evaluated not reviewed unknown Array rs34570819 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 0 - 0 N - - HMGXB3 Ser477Ile S477I not reviewed Insufficiently evaluated not reviewed unknown Array 11 3234 0.00340136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HMGXB3 His792Arg H792R not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF300 Gly119Ser G119S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP10B Arg555Gln R555Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 9934 0.00181196 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - DOCK2 Ser1659Thr S1659T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RANBP17 Asp229Asn D229N not reviewed Insufficiently evaluated not reviewed unknown Array 51 10756 0.00474154 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - MXD3 Gln114His Q114H not reviewed Insufficiently evaluated not reviewed unknown Array rs35691394 26 10144 0.00256309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 1 N - - SLC34A1 Pro75Ser P75S not reviewed Insufficiently evaluated not reviewed unknown Array rs61753440 207 10756 0.0192451 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.438 - - 3 - 1 N - - PAK1IP1 Leu129Phe L129F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - KIAA0319 Glu563Gln E563Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - BTN3A3 Arg579Cys R579C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - HLA-A Arg138Glu R138E not reviewed Insufficiently evaluated not reviewed unknown Array rs41540615 6 94 0.0638298 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TNXB Ser1091Tyr S1091Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61978561 9 7108 0.00126618 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - AGPAT1 Pro30Ser P30S not reviewed Insufficiently evaluated not reviewed unknown Array rs11964847 13 7524 0.0017278 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOTCH4 Val600Leu V600L not reviewed Insufficiently evaluated not reviewed unknown Array rs11963697 12 7524 0.0015949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BRD2 Ala569Thr A569T not reviewed Insufficiently evaluated not reviewed unknown Array rs34530779 55 7520 0.00731383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A7 Gly205Arg G205R not reviewed Insufficiently evaluated not reviewed unknown Array 3 6636 0.000452079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.698 - - 6 Y 1 N - - UHRF1BP1 Val1351Glu V1351E not reviewed Insufficiently evaluated not reviewed unknown Array rs35032786 62 10126 0.00612285 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.566 - - 5 Y 1 N - - ANKS1A Ala355Asp A355D not reviewed Insufficiently evaluated not reviewed unknown Array rs6930932 93 10758 0.00864473 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - UNC5CL Arg211Trp R211W not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - NCR2 Val31Met V31M not reviewed Insufficiently evaluated not reviewed unknown Array rs35710973 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.627 - - 0 - 1 N - - NCR2 Arg163Thr R163T not reviewed Insufficiently evaluated not reviewed unknown Array rs35180361 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - CUL7 Arg46Trp R46W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.854 - Y 7 Y 3 N - - RSPH9 Ala88Val A88V not reviewed Insufficiently evaluated not reviewed unknown Array rs35110984 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 - Y 2 - 1 N - - AARS2 Asp287Glu D287E not reviewed Insufficiently evaluated not reviewed unknown Array 131 10756 0.0121792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -2 - 2 N - - ENPP4 Ser439Ala S439A not reviewed Insufficiently evaluated not reviewed unknown Array rs16874289 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - -1 - 0 N - - DST Gln2767Arg Q2767R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHF3 Ser1792Thr S1792T not reviewed Insufficiently evaluated not reviewed unknown Array rs34644326 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - -2 - 1 N - - DDX43 Thr54Ile T54I not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - IMPG1 Glu709Gly E709G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.475 - - 6 Y 1 N - - DOPEY1 Asn696Ser N696S not reviewed Insufficiently evaluated not reviewed unknown Array rs72903885 268 10758 0.0249117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDN1 Pro3645Leu P3645L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - MDN1 His2670Gln H2670Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - -1 - 1 N - - BACH2 Ser476Ile S476I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - FAM26F Phe4Leu F4L not reviewed Insufficiently evaluated not reviewed unknown Array rs61742007 26 9724 0.0026738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - 0 - 0 N - - BET3L Ser76Gly S76G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM26E Asp232Asn D232N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - ROS1 Leu760Ile L760I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - THEMIS Ala601Val A601V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - LAMA2 Thr178Met T178M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - AKAP7 Glu4Lys E4K not reviewed Insufficiently evaluated not reviewed unknown Array rs7771473 208 10748 0.0193524 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.294 - - 0 - 1 N - - PBOV1 Asn15Del N15Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NHSL1 Ala619Thr A619T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NHSL1 Ile192Val I192V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ECT2L Ala49Thr A49T not reviewed Insufficiently evaluated not reviewed unknown Array 75 9490 0.00790306 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIVEP2 Gly65Val G65V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729347 22 10434 0.00210849 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.699 - - 8 Y 1 N - - SHPRH Thr968Ser T968S not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SASH1 Pro298Gln P298Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35078400 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - AKAP12 Glu101Del E101Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TIAM2 Ile785Val I785V not reviewed Insufficiently evaluated not reviewed unknown Array rs62621836 242 10758 0.0224949 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IGF2R Arg249Trp R249W not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 7 Y 0 N - - AK001769 Thr30Ile T30I not reviewed Insufficiently evaluated not reviewed unknown Array rs34346305 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DLL1 Asn616Asp N616D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - DLL1 Gly205Arg G205R not reviewed Insufficiently evaluated not reviewed unknown Array rs34065522 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - ABCB5 Glu22Ala E22A not reviewed Insufficiently evaluated not reviewed unknown Array 24 7818 0.00306984 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH11 Gly2737Cys G2737C not reviewed Insufficiently evaluated not reviewed unknown Array rs28549882 74 9546 0.00775194 2 0 2 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - NOD1 Asp372Asn D372N not reviewed Insufficiently evaluated not reviewed unknown Array rs5743342 129 10756 0.0119933 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - CCDC129 Tyr89Cys Y89C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10750 0.00139535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC129 Met979Thr M979T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANLN Ser192Leu S192L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ANLN Asp537Asn D537N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - POLD2 Leu465Met L465M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SUN3 His153Arg H153R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 1 - 1 N - - ABCA13 Ser725Asn S725N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Arg1021His R1021H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA13 Ile1276Met I1276M not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Ile1379Val I1379V not reviewed Insufficiently evaluated not reviewed unknown Array rs17132195 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA13 Ile1834Lys I1834K not reviewed Insufficiently evaluated not reviewed unknown Array rs17132197 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Ser2099Leu S2099L not reviewed Insufficiently evaluated not reviewed unknown Array rs17092911 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Leu2157Ser L2157S not reviewed Insufficiently evaluated not reviewed unknown Array rs17132198 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Gly2294Arg G2294R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 Lys2381Arg K2381R not reviewed Insufficiently evaluated not reviewed unknown Array rs17132206 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCA13 Ser2482Ala S2482A not reviewed Insufficiently evaluated not reviewed unknown Array rs17132208 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Lys2816Thr K2816T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA13 Asn3129Ser N3129S not reviewed Insufficiently evaluated not reviewed unknown Array 6 128 0.046875 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HPVC1 Phe98Ser F98S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - VSTM2A Glu70Gln E70Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10750 0.000279069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AX746636 Arg40Trp R40W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GBAS Asn142Ser N142S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RABGEF1 Asn300Ser N300S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRCRB4D Val94Ile V94I not reviewed Insufficiently evaluated not reviewed unknown Array 83 10664 0.0077832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -4 - 2 N - - PION Phe618Ile F618I not reviewed Insufficiently evaluated not reviewed unknown Array 143 9638 0.0148371 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCLO Ile1878Val I1878V not reviewed Insufficiently evaluated not reviewed unknown Array 11 9450 0.00116402 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DMTF1 Met648Thr M648T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP9 Asp2893His D2893H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10744 0.00018615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP9 Arg3742Pro R3742P not reviewed Insufficiently evaluated not reviewed unknown Array rs34101758 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC132 Asn865Ser N865S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741161 62 9430 0.00657476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.674 - - 0 - 1 N - - DYNC1I1 Phe158Leu F158L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 0 - 2 N - - ZAN Thr679Ile T679I not reviewed Insufficiently evaluated not reviewed unknown Array 54 9730 0.00554984 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC17 Ser526Tyr S526Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC17 Ile3639Leu I3639L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RELN Ala2696Thr A2696T not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - LAMB1 Gln974Glu Q974E not reviewed Insufficiently evaluated not reviewed unknown Array rs61753441 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - -2 - 0 N - - CTTNBP2 Val1035Met V1035M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRM8 Lys872Arg K872R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - -3 - 1 N - - NR_002144 Asn81Lys N81K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM40B Leu661Ile L661I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - ATG9B Arg141Trp R141W not reviewed Insufficiently evaluated not reviewed unknown Array 216 9572 0.0225658 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR86 Gly313Ser G313S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10754 0.00278966 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPP6 Lys571Gln K571Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 9656 0.001657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARHGEF10 His834Arg H834R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGEF10 Ala1124Thr A1124T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AB209502 Pro2490Leu P2490L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRSS55 Phe4Val F4V not reviewed Insufficiently evaluated not reviewed unknown Array 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RP1L1 Ala1493Val A1493V not reviewed Insufficiently evaluated not reviewed unknown Array 59 9986 0.00590827 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RP1L1 GlyThrGluGly1309ThrGlu GTEG1309TE not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RP1L1 Pro284Ala P284A not reviewed Insufficiently evaluated not reviewed unknown Array 124 9894 0.0125328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BLK Asp59Glu D59E not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - DLC1 Asp84Asn D84N not reviewed Insufficiently evaluated not reviewed unknown Array rs35173269 196 10758 0.018219 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8ORF48 Asn89Lys N89K not reviewed Insufficiently evaluated not reviewed unknown Array rs10096353 22 3234 0.00680272 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MSR1 Pro346Leu P346L not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.571 - - 7 Y 1 N - - FGL1 Tyr111His Y111H not reviewed Insufficiently evaluated not reviewed unknown Array rs34019703 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - PCM1 Asp63Asn D63N not reviewed Insufficiently evaluated not reviewed unknown Array rs34804690 23 10070 0.00228401 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.529 - - -1 - 1 N - - PDLIM2 Arg299Cys R299C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10740 0.000186219 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - C8ORF58 Pro245Ser P245S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAM28 Val322Ile V322I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAM7 Asp118Asn D118N not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GNRH1 Glu80Gln E80Q not reviewed Insufficiently evaluated not reviewed unknown Array 55 9442 0.00582504 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - -2 - 0 N - - ADAM9 Glu76Lys E76K not reviewed Insufficiently evaluated not reviewed unknown Array rs61753672 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ADAM9 Val338Ala V338A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - 2 - 2 N - - ADAM18 Cys642Ser C642S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ADAM2 Gly12Ser G12S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 2 - 0 N - - ST18 Ser294Asn S294N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSPP1 Asp398Gly D398G not reviewed Insufficiently evaluated not reviewed unknown Array 6 9530 0.00062959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - JPH1 Lys441Arg K441R not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - NECAB1 Phe200Val F200V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10006 0.00089946 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 3 - 1 N - - TMEM55A His254Gln H254Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.498 - - -1 - 1 N - - LRRC69 Arg275Trp R275W not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC26A7 Val134Met V134M not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - RSPO2 Arg123Ser R123S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 3 - 1 N - - PKHD1L1 Tyr3096Ser Y3096S not reviewed Insufficiently evaluated not reviewed unknown Array 46 9524 0.0048299 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 5 Y 0 N - - PKHD1L1 Ile4216Asn I4216N not reviewed Insufficiently evaluated not reviewed unknown Array 62 10170 0.00609636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - CSMD3 Val3000Leu V3000L not reviewed Insufficiently evaluated not reviewed unknown Array rs2193430 111 10758 0.0103179 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - ZNF696 Asp157Glu D157E not reviewed Insufficiently evaluated not reviewed unknown Array 38 10744 0.00353686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEC Ser794Cys S794C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10356 0.000965623 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATC1 Asp402Glu D402E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TONSL Val329Met V329M not reviewed Insufficiently evaluated not reviewed unknown Array rs2229314 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXH1 Pro157Arg P157R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TYRP1 Arg326His R326H not reviewed Insufficiently evaluated not reviewed unknown Array rs16929374 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.81 Y - 1 - 2 N - - ADAMTSL1 Leu35Val L35V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM154A Tyr378Cys Y378C not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - DENND4C Thr914Ile T914I not reviewed Insufficiently evaluated not reviewed unknown Array 289 10758 0.0268637 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - 3 - 0 N - - IFNE Leu91Phe L91F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - 0 - 1 N - - CD72 Gln314Lys Q314K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FRMPD1 Thr50Asn T50N not reviewed Insufficiently evaluated not reviewed unknown Array rs7031966 197 10758 0.018312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 1 - 0 N - - C9ORF57 Phe42Leu F42L not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK122718 Ala311Thr A311T not reviewed Insufficiently evaluated not reviewed unknown Array 46 4586 0.0100305 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF47 Ile18Ser I18S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM22G Ser34Ala S34A not reviewed Insufficiently evaluated not reviewed unknown Array rs71231903 167 9970 0.0167503 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR13C8 Asp6Asn D6N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - OR13D1 Gly170Arg G170R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACTL7B Ser158Asn S158N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.371 - - 0 - 1 N - - ACTL7A Ala161Pro A161P not reviewed Insufficiently evaluated not reviewed unknown Array rs35995497 380 10758 0.0353226 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF6 Thr180Met T180M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA0368 Gln528His Q528H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL27A1 Pro720Arg P720R not reviewed Insufficiently evaluated not reviewed unknown Array rs35446342 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ORM2 Met174Val M174V not reviewed Insufficiently evaluated not reviewed unknown Array rs2636890 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - AKNA Arg116Cys R116C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - C9ORF91 Ala245Val A245V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNC Ile874Val I874V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737743 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSN Phe76Leu F76L not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.018 Y - 0 - 1 N - - TTLL11 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 12 7662 0.00156617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RC3H2 Asp870Glu D870E not reviewed Insufficiently evaluated not reviewed unknown Array 5 9642 0.000518564 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.427 - - -2 - 1 N - - OLFML2A Arg197His R197H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10470 0.00353391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 1 - 0 N - - LAMC3 Pro594His P594H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTF1 Val725Ile V725I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.158 Y - -4 - 1 N - - EEF1A1 Asn247Lys N247K not reviewed Insufficiently evaluated not reviewed unknown Array 2 112 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNAPC4 Ala1412Ser A1412S not reviewed Insufficiently evaluated not reviewed unknown Array 226 10740 0.0210428 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - -1 - 0 N - - SLC34A3 Val165Ile V165I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10750 0.00139535 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - -4 - 1 N - - ENTPD8 Arg264Pro R264P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC018860 Ile29Ser I29S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZBED1 Lys589Arg K589R not reviewed Insufficiently evaluated not reviewed unknown Array 77 10750 0.00716279 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.907 - - -3 - 2 N - - CXORF30 Ile363Met I363M not reviewed Insufficiently evaluated not reviewed unknown Array rs6527558 64 2482 0.0257857 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZCCHC13 Gly35Ser G35S not reviewed Insufficiently evaluated not reviewed unknown Array 171 8761 0.0195183 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.73 - - 2 - 1 N - - TEX13A Glu138Lys E138K not reviewed Insufficiently evaluated not reviewed unknown Array 14 8451 0.00165661 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL4A6 Gly578Arg G578R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SASH3 Ala240Thr A240T not reviewed Insufficiently evaluated not reviewed unknown Array rs2231131 23 8761 0.00262527 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAGEA8 Asn148Ser N148S not reviewed Insufficiently evaluated not reviewed unknown Array 26 8759 0.00296838 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CXORF40B Pro65Ala P65A not reviewed Insufficiently evaluated not reviewed unknown Array 23 8759 0.00262587 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRPK3 Gly340Val G340V not reviewed Insufficiently evaluated not reviewed unknown Array 11 8734 0.00125944 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PINK1 Arg501Gln R501Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744200 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 0 - 4 N - - GJB4 Gln80Stop Q80X not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - COL9A2 Ala336Glu A336E not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DBT Cys26Arg C26R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10750 0.00288372 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CD101 Pro51Shift P51Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FCRL3 Asn127Shift N127Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FCRL6 Gln40Shift Q40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TPR Glu1374Stop E1374X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CRB1 Arg365Ser R365S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.714 Y Y 3 - 3 N - - MTR Asp314Asn D314N not reviewed Insufficiently evaluated not reviewed unknown Array rs2229274 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.032 Y Y -1 - 2 N - - CDH23 Gly1023Asp G1023D not reviewed Insufficiently evaluated not reviewed unknown Array 37 10560 0.00350379 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DQ596646 Pro23Shift P23Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs73387508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGFR2 Ile8Ser I8S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 5 Y 2 N - - SMPD1 Val305Met V305M not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RSF1 Arg387Shift R387Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MTMR2 Val44Ile V44I not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ATM Ala2525Asp A2525D not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - VWF Phe1369Ile F1369I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750069 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - KRT86 Arg221Cys R221C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 8 Y 1 N - - TGM1 Ser755Leu S755L not reviewed Insufficiently evaluated not reviewed unknown Array rs35926651 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TUBGCP5 Phe72Shift F72Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CAPN3 Arg490Trp R490W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - CLN3 His404Asn H404N not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - CAPNS2 Ser109Shift S109Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DUS2L Val22Shift V22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH2 Asn4300Shift N4300Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRN Arg433Gln R433Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SGCA Arg374Cys R374C not reviewed Insufficiently evaluated not reviewed unknown Array rs35495899 66 10756 0.00613611 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 8 Y 1 N - - AXIN2 Ala761Asp A761D not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.03 Y - 5 Y 1 N - - DSG2 GlyHis1094ValAsn GH1094VN not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - DOT1L Lys1057Shift K1057Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF77 Tyr492Stop Y492X not reviewed Insufficiently evaluated not reviewed unknown Array rs34789013 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - STXBP2 Arg555Gly R555G not reviewed Insufficiently evaluated not reviewed unknown Array rs61736586 90 10736 0.00838301 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - ZNF93 Thr616Shift T616Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_003128 Asp128Shift D128Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - APOB Tyr1247Cys Y1247C not reviewed Insufficiently evaluated not reviewed unknown Array rs61741164 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - FAM82A1 Gln228Shift Q228Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - XPO1 Leu615Shift L615Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DYSF Arg1796Trp R1796W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.369 Y Y 7 Y 3 N - - CNGA3 Glu228Lys E228K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 0 - 4 N - - NEB Val1003Leu V1003L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9672 0.000310173 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SCN9A Ser1099Leu S1099L not reviewed Insufficiently evaluated not reviewed unknown Array 7 9624 0.000727348 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - XIRP2 Leu2660Stop L2660X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Ile26993Val I26993V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Val17587Leu V17587L not reviewed Insufficiently evaluated not reviewed unknown Array rs72646843 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile15948Thr I15948T not reviewed Insufficiently evaluated not reviewed unknown Array 17 9868 0.00172274 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Leu13345Phe L13345F not reviewed Insufficiently evaluated not reviewed unknown Array 9 9592 0.000938281 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Asp12216Shift D12216Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TTN Ser8413Leu S8413L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9902 0.00121188 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Thr8113Ile T8113I not reviewed Insufficiently evaluated not reviewed unknown Array 9 9638 0.000933803 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ASB18 Gln99Shift Q99Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GNAS Pro239Thr P239T not reviewed Insufficiently evaluated not reviewed unknown Array 142 10744 0.0132167 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PLAC4 Pro150Shift P150Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 116 0.0172414 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NDUFV3 Ala428Shift A428Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK311676 Ser59Shift S59Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MST1 Arg637Stop R637X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ISY1 Glu139Shift E139Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OPA1 Asn700Ser N700S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - F11 Cys339Phe C339F not reviewed Insufficiently evaluated not reviewed unknown Array rs5967 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.979 Y - 4 Y 3 N - - C5ORF42 Val247Shift V247Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR98 Val551Ala V551A not reviewed Insufficiently evaluated not reviewed unknown Array rs6889939 158 9722 0.0162518 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.309 Y Y 2 - 3 N - - TCOF1 Arg5Ser R5S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CCDC99 Met89Shift M89Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC17A1 Trp458Stop W458X not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CFB Lys565Glu K565E not reviewed Insufficiently evaluated not reviewed unknown Array rs4151659 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.03 Y Y 0 - 2 N - - PKHD1 Tyr1570Cys Y1570C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FAM135A Thr563Shift T563Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCB5 Lys544Shift K544Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ELN Val165Leu V165L not reviewed Insufficiently evaluated not reviewed unknown Array rs61734581 69 10756 0.00641502 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FLNC Thr1681Arg T1681R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10676 0.00121768 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 3 - 2 N - - C8ORF80 Pro12Shift P12Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNGB3 Met466Thr M466T not reviewed Insufficiently evaluated not reviewed unknown Array rs35010099 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 2 - 4 N - - NBN Pro266Leu P266L not reviewed Insufficiently evaluated not reviewed unknown Array rs769420 110 10758 0.0102249 2 0 2 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - GLIS3 Arg78Gly R78G not reviewed Insufficiently evaluated not reviewed unknown Array 13 10226 0.00127127 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - GLDC Leu296Ile L296I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - FAM166B Ser76Shift S76Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GNE Arg512Gln R512Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ANKRD18A Met379Shift M379Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ROR2 Val612Leu V612L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.121 Y Y 0 - 2 N - - IKBKAP Ala574Val A574V not reviewed Insufficiently evaluated not reviewed unknown Array rs35455790 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - WDR31 Cys195Stop C195X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GSN Arg668Leu R668L not reviewed Insufficiently evaluated not reviewed unknown Array rs9696578 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - GPR143 Ser398Asn S398N not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RS1 Asn99Asp N99D not reviewed Insufficiently evaluated not reviewed unknown Array 220 8761 0.0251113 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.221 Y Y -1 - 3 N - - RPGR Glu1018Del E1018Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - RPGR Arg804Lys R804K not reviewed Insufficiently evaluated not reviewed unknown Array 95 7495 0.0126751 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - RPGR Glu779Del E779Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ATRX Thr320Ser T320S not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - MEGF6 Ala277Ser A277S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10230 0.00391007 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - CHD5 Glu1609Lys E1609K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - TNFRSF25 Arg23Gln R23Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35771371 308 10750 0.0286512 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.13 - - 0 - 0 N - - PLEKHG5 Arg915His R915H not reviewed Insufficiently evaluated not reviewed unknown Array rs61737997 263 10698 0.024584 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.864 - - 1 - 2 N - - CAMTA1 Ser636Gly S636G not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - CAMTA1 Glu1191Asp E1191D not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIK3CD Val296Ile V296I not reviewed Insufficiently evaluated not reviewed unknown Array rs28730668 321 10758 0.0298383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DFFA Thr300Met T300M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CASZ1 Arg66His R66H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 1 - 2 N - - TNFRSF8 Asn511Asp N511D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC25A34 Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - SPEN Asp1363Glu D1363E not reviewed Insufficiently evaluated not reviewed unknown Array rs12095818 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.334 - - -2 - 1 N - - MUL1 Glu153Gly E153G not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - KIF17 Val675Ile V675I not reviewed Insufficiently evaluated not reviewed unknown Array rs558760 391 10750 0.0363721 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IL28RA Trp451Arg W451R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NR0B2 Gln5Glu Q5E not reviewed Insufficiently evaluated not reviewed unknown Array 43 10734 0.00400596 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.302 - - -2 - 1 N - - C1ORF172 Lys189Arg K189R not reviewed Insufficiently evaluated not reviewed unknown Array rs34291506 98 10758 0.0091095 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MATN1 Pro457Leu P457L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 7 Y 0 N - - CLSPN Pro956Leu P956L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0754 Tyr32Cys Y32C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9886 0.000101153 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RLF Arg668Lys R668K not reviewed Insufficiently evaluated not reviewed unknown Array rs35189918 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -3 - 2 N - - WDR65 Arg516Cys R516C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KIF2C Ala683Val A683V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - CCDC17 Asn497Ser N497S not reviewed Insufficiently evaluated not reviewed unknown Array rs16832629 66 10756 0.00613611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CYP4A22 Ser200Cys S200C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPS15 Ala263Thr A263T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - AK127270 Tyr45His Y45H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C8A Ala36Glu A36E not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - MYSM1 Lys194Glu K194E not reviewed Insufficiently evaluated not reviewed unknown Array 109 9668 0.0112743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIN1P1 Val55Phe V55F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - FUBP1 Thr530Ala T530A not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF180 Phe96Val F96V not reviewed Insufficiently evaluated not reviewed unknown Array rs4551616 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLCA2 Ser471Thr S471T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - GBP4 Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 0 - 1 N - - GBP4 Arg72His R72H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 1 - 0 N - - F3 Gly281Glu G281E not reviewed Insufficiently evaluated not reviewed unknown Array rs3789683 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC44A3 Arg476Gln R476Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC44A3 Ser607Leu S607L not reviewed Insufficiently evaluated not reviewed unknown Array rs34381000 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DPH5 Arg186Trp R186W not reviewed Insufficiently evaluated not reviewed unknown Array 38 9660 0.00393375 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OLFML3 Tyr369His Y369H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - SYCP1 Leu541Phe L541F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNRHR2 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs72701872 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ITGA10 Gln185Lys Q185K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.646 - - -2 - 1 N - - HCN3 Arg766Gln R766Q not reviewed Insufficiently evaluated not reviewed unknown Array 93 10750 0.00865116 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FDPS Ile120Thr I120T not reviewed Insufficiently evaluated not reviewed unknown Array rs61729685 29 10758 0.00269567 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - SEMA4A Gly484Ala G484A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.159 Y - 1 - 1 N - - OR10J5 Phe12Leu F12L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - IGSF9 Pro354Leu P354L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR2C Thr117Ile T117I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731479 2190 10382 0.210942 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - UCK2 Gln108Glu Q108E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - METTL11B Leu277Pro L277P not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRRC2C Leu519Phe L519F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1614 Thr767Ala T767A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10214 0.000685333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MR1 His108Leu H108L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - CFHR4 Val93Ala V93A not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF14 Arg1028Gln R1028Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NAV1 Val1524Ile V1524I not reviewed Insufficiently evaluated not reviewed unknown Array rs16849379 55 10758 0.00511247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FMOD Tyr42Ser Y42S not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAIM3 Thr161Asn T161N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - C4BPA Leu33Val L33V not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CD55 Arg52Leu R52L not reviewed Insufficiently evaluated not reviewed unknown Array rs28371588 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 6 Y 0 N - - C1ORF115 Ala132Val A132V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDC42BPA Met1649Val M1649V not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - URB2 Thr720Met T720M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNK1 Arg171His R171H not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - MTR Gly90Glu G90E not reviewed Insufficiently evaluated not reviewed unknown Array rs2229274 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - KMO Arg414His R414H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - OPN3 Cys234Tyr C234Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - TRIM58 Arg203Gln R203Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61730479 58 10758 0.00539134 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.449 - - 0 - 1 N - - GDI2 Asn312Ser N312S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSGALNACT2 Arg489His R489H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASSF4 Ala155Thr A155T not reviewed Insufficiently evaluated not reviewed unknown Array rs35924448 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYT15 Arg195Cys R195C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10378 9.6357e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.608 - - 8 Y 1 N - - CTNNA3 Ile400Thr I400T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - TSPAN15 Arg207His R207H not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 1 - 2 N - - SH2D4B Asp275Asn D275N not reviewed Insufficiently evaluated not reviewed unknown Array 112 10756 0.0104128 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRID1 Pro984Ser P984S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - LIPK Met145Ile M145I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - -1 - 2 N - - CYP2C9 Asn236Thr N236T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.187 - - 1 - 0 N - - HPSE2 Asp43Asn D43N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LZTS2 Arg168Trp R168W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TMEM180 Met498Val M498V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - RBM20 Arg176Cys R176C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NRAP Thr1501Pro T1501P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 4 Y 0 N - - ATRNL1 His484Asn H484N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - DQ596646 Leu28Val L28V not reviewed Insufficiently evaluated not reviewed unknown Array rs28409496 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ596646 CysThr20TyrAla CT20YA not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF119 AspThr289GlyAla DT289GA not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HTRA1 Thr365Met T365M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.613 Y - 2 - 2 N - - CPXM2 Thr155Met T155M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - MKI67 Pro1944His P1944H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 5 Y 0 N - - AK310947 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR123 Pro331Ala P331A not reviewed Insufficiently evaluated not reviewed unknown Array 84 7540 0.0111406 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKP3 Arg185Trp R185W not reviewed Insufficiently evaluated not reviewed unknown Array 29 10650 0.002723 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR51T1 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR52D1 Pro293Leu P293L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - OR52L1 Ala255Val A255V not reviewed Insufficiently evaluated not reviewed unknown Array 137 10324 0.0132701 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - RBMXL2 His279Asn H279N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10734 0.000186323 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - OTOG Ala1007Gly A1007G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 1 - 0 N - - NAV2 Pro559Ala P559A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANO5 Glu202Lys E202K not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO5 Leu785Arg L785R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - BC156059 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF41 Val1035Ala V1035A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPRJ His451Arg H451R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739249 91 10758 0.00845882 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - OR4X2 Ala272Thr A272T not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - FOLH1 Ser155Leu S155L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - OR4C13 Cys167Arg C167R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - TNKS1BP1 Pro96Ser P96S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10756 0.0105987 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC157854 Ser202Pro S202P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.516 - - 3 - 1 N - - CTNND1 Arg464Cys R464C not reviewed Insufficiently evaluated not reviewed unknown Array rs11570199 81 10010 0.00809191 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - OR10V1 Gln101Leu Q101L not reviewed Insufficiently evaluated not reviewed unknown Array rs537595 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - AHNAK Met880Leu M880L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.925 - - -3 - 2 N - - CDC42BPG Thr473Met T473M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.54 - - 2 - 1 N - - CDC42BPG Val340Met V340M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10756 0.00343994 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - TM7SF2 Ser220Leu S220L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - SLC22A20 Val389Ala V389A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LTBP3 Pro1078Leu P1078L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9768 0.00020475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - EIF1AD Thr120Ala T120A not reviewed Insufficiently evaluated not reviewed unknown Array rs35173176 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - BRMS1L Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRMS1L Ser7Gly S7G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GAL Glu121Lys E121K not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 0 - 2 N - - FOLR2 Arg170His R170H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - RSF1 Val10Leu V10L not reviewed Insufficiently evaluated not reviewed unknown Array 5 8928 0.000560035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INTS4 Asp132Asn D132N not reviewed Insufficiently evaluated not reviewed unknown Array rs61736152 225 10758 0.0209147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCTD14 Gly41Asp G41D not reviewed Insufficiently evaluated not reviewed unknown Array rs61742053 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PANX1 Thr396Met T396M not reviewed Insufficiently evaluated not reviewed unknown Array 158 10758 0.0146867 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAML2 Pro405Ser P405S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10034 0.000398644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MMP25 Pro379Leu P379L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KBTBD3 Arg416Trp R416W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NCAM1 Arg175Gln R175Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35576001 91 10034 0.00906916 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MLL Lys2499Arg K2499R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - -3 - 1 N - - OR8A1 Thr27Ala T27A not reviewed Insufficiently evaluated not reviewed unknown Array rs7927196 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 1 - 1 N - - PANX3 Tyr226Asn Y226N not reviewed Insufficiently evaluated not reviewed unknown Array rs35607342 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CDON Arg1187Cys R1187C not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 8 Y 2 N - - DCPS Asn193Ser N193S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.339 - - 0 - 1 N - - ITFG2 Gln434His Q434H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK056228 Gln19Arg Q19R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD4 Val375Met V375M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - GPRC5A Tyr277Cys Y277C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - 6 Y 0 N - - RERGL Thr107Ile T107I not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - PDE3A Leu65Pro L65P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 7 Y 1 N - - TSPAN11 Phe101Leu F101L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 0 - 2 N - - KRT85 Thr324Met T324M not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KRT84 Val526Asp V526D not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRT74 Glu504Lys E504K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT74 Arg85Trp R85W not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 7 Y 2 N - - KRT72 Arg300His R300H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KRT1 Thr297Asn T297N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - RARG Ser45Asn S45N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ZC3H10 Gly10Ser G10S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MBD6 Arg360Cys R360C not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF25 Tyr74Cys Y74C not reviewed Insufficiently evaluated not reviewed unknown Array 25 10752 0.00232515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XPOT Ser537Ile S537I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - ACSS3 Ala375Ser A375S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - -1 - 1 N - - APAF1 Glu625Ala E625A not reviewed Insufficiently evaluated not reviewed unknown Array rs73142307 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - RAD9B Pro59Leu P59L not reviewed Insufficiently evaluated not reviewed unknown Array 2 7812 0.000256016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OAS1 Leu327Pro L327P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXW8 Thr211Ala T211A not reviewed Insufficiently evaluated not reviewed unknown Array rs36021180 204 10758 0.0189626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HPD Met166Ile M166I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - TCTN2 Phe316Ser F316S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - FGF9 Gln14His Q14H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - -1 - 1 N - - TNFRSF19 Gln298Arg Q298R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF6 His532Pro H532P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 5 Y 0 N - - RASL11A Glu17Lys E17K not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.555 - - 0 - 1 N - - FREM2 Thr1634Met T1634M not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.994 Y - 2 - 3 N - - C13ORF23 Ser847Thr S847T not reviewed Insufficiently evaluated not reviewed unknown Array rs17058955 313 10758 0.0290946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK057244 Arg410Trp R410W not reviewed Insufficiently evaluated not reviewed unknown Array rs60300837 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ARL11 Ala183Glu A183E not reviewed Insufficiently evaluated not reviewed unknown Array 41 10536 0.00389142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - ARL11 His186Cys H186C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DAOA Gln136Glu Q136E not reviewed Insufficiently evaluated not reviewed unknown Array rs72549493 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.535 - - -2 - 1 N - - MYO16 Tyr1222Cys Y1222C not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - 6 Y 2 N - - C13ORF35 Gly39Asp G39D not reviewed Insufficiently evaluated not reviewed unknown Array 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR4L1 Cys210Gly C210G not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - SLC39A2 His145Tyr H145Y not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FITM1 Gly104Val G104V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - IPO4 Pro494Thr P494T not reviewed Insufficiently evaluated not reviewed unknown Array 57 10150 0.00561576 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 4 Y 0 N - - HEATR5A Arg529His R529H not reviewed Insufficiently evaluated not reviewed unknown Array rs61754154 94 9488 0.00990725 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLE2 Leu456Val L456V not reviewed Insufficiently evaluated not reviewed unknown Array rs34574266 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - NID2 Asp313Gly D313G not reviewed Insufficiently evaluated not reviewed unknown Array rs17124969 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - SYNE2 Asn4199Ser N4199S not reviewed Insufficiently evaluated not reviewed unknown Array rs35223918 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR594591 Thr104Ile T104I not reviewed Insufficiently evaluated not reviewed unknown Array rs3888365 7 82 0.0853659 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SMOC1 Val82Met V82M not reviewed Insufficiently evaluated not reviewed unknown Array rs10150925 47 10758 0.00436884 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - RGS6 Leu268Phe L268F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCF1 Val106Ala V106A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 2 - 1 N - - TSHR Asn744Lys N744K not reviewed Insufficiently evaluated not reviewed unknown Array rs61743974 213 10758 0.0197992 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - SEL1L Met191Thr M191T not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.527 - - 2 - 1 N - - RIN3 GluGlu28Del EE28Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTBD7 Ser547Thr S547T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDR20 Cys267Ser C267S not reviewed Insufficiently evaluated not reviewed unknown Array rs61731156 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - KIF26A Ser1726Asn S1726N not reviewed Insufficiently evaluated not reviewed unknown Array 12 8798 0.00136395 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - AHNAK2 Ser1519Thr S1519T not reviewed Insufficiently evaluated not reviewed unknown Array 74 9512 0.00777965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - AHNAK2 Pro1501Leu P1501L not reviewed Insufficiently evaluated not reviewed unknown Array 510 9692 0.0526207 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.04 - - 7 Y 0 N - - AHNAK2 Met1495Ile M1495I not reviewed Insufficiently evaluated not reviewed unknown Array 24 9702 0.00247372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - AHNAK2 Ser124Arg S124R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - NDN Ser317Gly S317G not reviewed Insufficiently evaluated not reviewed unknown Array 16 10696 0.00149589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - 2 - 0 N - - C15ORF2 Met221Ile M221I not reviewed Insufficiently evaluated not reviewed unknown Array rs35667483 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C15ORF2 Asn683Ser N683S not reviewed Insufficiently evaluated not reviewed unknown Array rs34938903 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HERC2 Ala3095Ser A3095S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - -1 - 0 N - - HERC2 Val2577Ile V2577I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - GPR176 Thr304Ala T304A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - RTF1 Thr258Ala T258A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLA2G4F Leu834Phe L834F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 0 - 2 N - - EPB42 His619Gln H619Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP1A Arg1771His R1771H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - IGDCC3 Ser412Gly S412G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - SLC24A1 Val608Ile V608I not reviewed Insufficiently evaluated not reviewed unknown Array rs35984752 164 10312 0.0159038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MEGF11 Cys761Gly C761G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CCDC33 Leu536Arg L536R not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - CSPG4 Val699Met V699M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.809 - - 0 - 1 N - - BC042092 His103Del H103Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SH2D7 Gly46Ser G46S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10042 0.00348536 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - IL16 Arg889Gln R889Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17875512 88 10738 0.00819519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTSL3 Arg1679His R1679H not reviewed Insufficiently evaluated not reviewed unknown Array rs11857906 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - SEMA4B Asp462Asn D462N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10456 0.00124331 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SNRNP25 Val92Met V92M not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.097 - - 0 - 0 N - - RHBDF1 His58Tyr H58Y not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - -1 - 1 N - - CACNA1H Arg276Gln R276Q not reviewed Insufficiently evaluated not reviewed unknown Array rs59709076 30 10324 0.00290585 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - CACNA1H Lys2186Del K2186Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRAF7 Lys199Arg K199R not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SRRM2 Arg2119His R2119H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - HSP90B2P Stop705Cys X705C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBN1 Ser1039Arg S1039R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 3 - 0 N - - C16ORF72 Arg139His R139H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACSM5 Asp177Asn D177N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.311 - - -1 - 1 N - - POLR3E Thr424Ala T424A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - RBBP6 Lys1441Arg K1441R not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - IL4R Pro435Ser P435S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.391 - - 3 - 1 N - - KIAA0556 Glu1342Asp E1342D not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - ZNF646 Gly1287Arg G1287R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10742 0.00446844 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - VPS35 Lys382Arg K382R not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NLRC5 Met968Leu M968L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.662 - - -3 - 1 N - - CCDC79 Ser51Asn S51N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CES3 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array rs71647891 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - PLEKHG4 Arg557Lys R557K not reviewed Insufficiently evaluated not reviewed unknown Array 30 10748 0.00279122 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - VAC14 Ser770Asn S770N not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - HYDIN Met5048Thr M5048T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10230 0.00293255 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYDIN Val3127Met V3127M not reviewed Insufficiently evaluated not reviewed unknown Array 20 9608 0.0020816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYDIN Arg2532Trp R2532W not reviewed Insufficiently evaluated not reviewed unknown Array 21 9840 0.00213415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN ThrGluLysGluArg2520Del TEKER2520Del not reviewed Insufficiently evaluated not reviewed unknown Array 76 118 0.644068 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BCMO1 Arg537Ser R537S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - 3 - 1 N - - MLYCD Lys336Arg K336R not reviewed Insufficiently evaluated not reviewed unknown Array 6 9690 0.000619195 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y - -3 - 1 N - - TAF1C Ala120Val A120V not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.366 - - 2 - 1 N - - KCNG4 Gly8Trp G8W not reviewed Insufficiently evaluated not reviewed unknown Array rs35379218 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 7 Y 0 N - - KIAA0182 Glu1138Asp E1138D not reviewed Insufficiently evaluated not reviewed unknown Array 123 10752 0.0114397 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - CTU2 Ala118Val A118V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744025 97 10744 0.00902829 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM38A Arg1760Gln R1760Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2290901 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEMIN4 Arg508Gln R508Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 9824 0.00162866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GEMIN4 Leu252Met L252M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10636 0.00178638 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TIMM22 Asn7Ser N7S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10408 0.000480399 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGSM2 Pro808Leu P808L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZZEF1 Ile1021Val I1021V not reviewed Insufficiently evaluated not reviewed unknown Array rs16953687 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLD2 Arg553Gln R553Q not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - SPAG7 Pro72Leu P72L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.842 - - 7 Y 1 N - - ALOX12 Val479Ile V479I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - DNAH2 Ala316Val A316V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - KDM6B Ser627Arg S627R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10466 0.000191094 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMCR8 Gln364Pro Q364P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - CCDC55 Asp464Asn D464N not reviewed Insufficiently evaluated not reviewed unknown Array 158 10756 0.0146895 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - SLFN14 Tyr770Phe Y770F not reviewed Insufficiently evaluated not reviewed unknown Array 61 3234 0.0188621 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -4 - 2 N - - GAS2L2 Arg492Cys R492C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRM1 Ala76Gly A76G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10670 0.000374882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.126 - - 1 - 0 N - - LHX1 Ala388Ser A388S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10670 0.00534208 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GRB7 Thr287Met T287M not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 2 - 2 N - - KRT26 Val231Asp V231D not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRT39 Ile393Phe I393F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10750 0.00139535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KRT36 Pro424Gln P424Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - BC122868 Arg13Cys R13C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FZD2 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - C17ORF57 Thr265Asn T265N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HELZ Ile1468Val I1468V not reviewed Insufficiently evaluated not reviewed unknown Array 104 9972 0.0104292 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GALR2 Tyr160His Y160H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10750 0.00297674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - DNAH17 Gly493Val G493V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740096 48 10756 0.00446262 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF213 Pro106Leu P106L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C17ORF56 Thr296Met T296M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10582 0.00189 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC57 Arg146Trp R146W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK095347 Val32Met V32M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAMA1 Val1182Phe V1182F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - C18ORF1 Gln102His Q102H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSC1 Val109Ala V109A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POLI Ile261Met I261M not reviewed Insufficiently evaluated not reviewed unknown Array rs3218784 227 10756 0.0211045 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMX3 Ile423Thr I423T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CNDP1 Ala355Thr A355T not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - 1 - 2 N - - ZNF407 Glu343Lys E343K not reviewed Insufficiently evaluated not reviewed unknown Array 67 9618 0.00696611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.72 - - 0 - 1 N - - SHC2 Pro322Leu P322L not reviewed Insufficiently evaluated not reviewed unknown Array rs61745866 44 9608 0.00457952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLRMT Gln322Leu Q322L not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 5 Y 2 N - - C19ORF21 Phe234Leu F234L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10754 0.00539334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF77 Ser175Ala S175A not reviewed Insufficiently evaluated not reviewed unknown Array rs34727043 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -1 - 2 N - - PEX11G Arg208Cys R208C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10314 0.0008726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 8 Y 0 N - - HNRNPM Gly482Ser G482S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10740 0.000372439 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR7G2 Ala275Ser A275S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF177 Met98Val M98V not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL5A3 Pro1050Ser P1050S not reviewed Insufficiently evaluated not reviewed unknown Array 109 10746 0.0101433 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - EIF3G Pro2Leu P2L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZGLP1 Asp98Gly D98G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.672 - - 4 Y 1 N - - ILF3 Ala501Ser A501S not reviewed Insufficiently evaluated not reviewed unknown Array rs34520379 223 10758 0.0207288 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOCK6 Glu1154Lys E1154K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_022737 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - -4 - 1 N - - CCDC151 Gly501Ser G501S not reviewed Insufficiently evaluated not reviewed unknown Array 88 9950 0.00884422 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 2 - 0 N - - CCDC151 Asp84His D84H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9770 0.000102354 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - LPHN1 Ile56Val I56V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - OR7A17 Val37Ala V37A not reviewed Insufficiently evaluated not reviewed unknown Array rs10405148 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - SLC1A6 Ser235Gly S235G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 2 - 0 N - - MYO9B Arg56Gln R56Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35218876 119 10426 0.0114138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO9B Ser1099Trp S1099W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OCEL1 Pro4Thr P4T not reviewed Insufficiently evaluated not reviewed unknown Array 165 10744 0.0153574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM129C Ala293Glu A293E not reviewed Insufficiently evaluated not reviewed unknown Array rs114207587 398 8004 0.0497251 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.266 - - 3 - 1 N - - FAM129C Ser366Leu S366L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 6 Y 1 N - - ZNF486 Thr32Ile T32I not reviewed Insufficiently evaluated not reviewed unknown Array rs61742117 104 7514 0.0138408 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF486 Thr255Ile T255I not reviewed Insufficiently evaluated not reviewed unknown Array rs7250438 116 10510 0.0110371 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_003128 Asn64Tyr N64Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_003128 Ala279Val A279V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF91 Pro83Ser P83S not reviewed Insufficiently evaluated not reviewed unknown Array 180 10754 0.016738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WTIP Thr344Met T344M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF792 Ala570Thr A570T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.857 - - 1 - 2 N - - MAG Asn553His N553H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.469 - Y 0 - 2 N - - C19ORF54 Gly177Ser G177S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTGIR Asp267Asn D267N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10638 0.00169205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - KPTN Gly211Arg G211R not reviewed Insufficiently evaluated not reviewed unknown Array 37 8762 0.00422278 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 6 Y 1 N - - C19ORF68 Ser49Gly S49G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCAT2 Lys374Glu K374E not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TULP2 Asp11His D11H not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - DHDH Pro252Ser P252S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.692 - - 3 - 1 N - - KLK15 Gly135Ala G135A not reviewed Insufficiently evaluated not reviewed unknown Array 46 10750 0.00427907 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.476 - - 1 - 1 N - - KLK15 Arg97His R97H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.717 - - 1 - 1 N - - ZNF83 Arg141Ile R141I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRB1 Arg72Trp R72W not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SBK2 Arg287Gln R287Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - BX640680 Glu158Lys E158K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF418 Thr365Ala T365A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - 1 - 1 N - - ZNF132 Thr678Asn T678N not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 1 - 0 N - - ZNF132 Glu288Val E288V not reviewed Insufficiently evaluated not reviewed unknown Array rs61731799 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 5 Y 0 N - - TPO Ala257Thr A257T not reviewed Insufficiently evaluated not reviewed unknown Array rs4927611 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PXDN Thr1268Met T1268M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.346 - - 2 - 1 N - - APOB Ser3279Gly S3279G not reviewed Insufficiently evaluated not reviewed unknown Array rs12720854 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - TMEM214 Tyr540His Y540H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10284 0.000194476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -1 - 2 N - - BIRC6 Asn3709Ser N3709S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR5B Ile1144Val I1144V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.542 - - -4 - 1 N - - FAM82A1 Ile203Val I203V not reviewed Insufficiently evaluated not reviewed unknown Array 221 10758 0.0205429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM82A1 Lys511Arg K511R not reviewed Insufficiently evaluated not reviewed unknown Array 208 10756 0.019338 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GALM Gly142Arg G142R not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - THADA Ala1237Val A1237V not reviewed Insufficiently evaluated not reviewed unknown Array 42 9638 0.00435775 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - PLEKHH2 Thr886Ala T886A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 1 - 0 N - - C2ORF61 Phe117Leu F117L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO11 Thr42Ser T42S not reviewed Insufficiently evaluated not reviewed unknown Array rs17036993 309 10754 0.0287335 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP34 Lys2605Leu K2605L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ETAA1 Met155Val M155V not reviewed Insufficiently evaluated not reviewed unknown Array 210 10758 0.0195204 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - ETAA1 Ser845Tyr S845Y not reviewed Insufficiently evaluated not reviewed unknown Array 206 10740 0.0191806 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.961 - - 5 Y 2 N - - WDR92 Asp138Asn D138N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ANXA4 Val315Phe V315F not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOC6B Glu375Asp E375D not reviewed Insufficiently evaluated not reviewed unknown Array 90 9694 0.00928409 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - STAMBP Glu167Lys E167K not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - STAMBP Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 0 - 0 N - - TTC31 Pro336Arg P336R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9676 0.000206696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - SEMA4F Ala625Thr A625T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH2D6 Val90Met V90M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - C2ORF68 Gly90Ser G90S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743294 81 10006 0.00809514 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRCC1 Glu124Lys E124K not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - SMYD1 Gln299His Q299H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731026 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -1 - 1 N - - MFSD9 Ala129Ser A129S not reviewed Insufficiently evaluated not reviewed unknown Array rs7601509 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - TGFBRAP1 Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - ST6GAL2 Tyr29Phe Y29F not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - BC113708 Gln106Pro Q106P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLASP1 Asn733Ser N733S not reviewed Insufficiently evaluated not reviewed unknown Array 64 9646 0.00663487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GYPC Ile71Thr I71T not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 3 - 1 N - - MYO7B Thr1473Met T1473M not reviewed Insufficiently evaluated not reviewed unknown Array 107 10560 0.0101326 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PKP4 Arg1176Gln R1176Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP2 Ser3104Asn S3104N not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 - Y 0 - 3 N - - KIAA1715 Val379Gly V379G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLCL1 Met462Val M462V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.254 Y - 0 - 2 N - - SPATS2L Ala346Thr A346T not reviewed Insufficiently evaluated not reviewed unknown Array rs34526345 283 9792 0.0289011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCTD18 Ala413Val A413V not reviewed Insufficiently evaluated not reviewed unknown Array rs10203042 241 10758 0.0224019 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - KCTD18 Gly336Cys G336C not reviewed Insufficiently evaluated not reviewed unknown Array rs10203154 235 10758 0.0218442 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAPH1 Asn1036Ser N1036S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC80 Thr241Ala T241A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - FN1 Thr68Ser T68S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - -2 - 1 N - - VIL1 Ala6Thr A6T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF25 Val104Met V104M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.155 - - 0 - 0 N - - SPEG Arg3246Gln R3246Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACCN4 Pro656Thr P656T not reviewed Insufficiently evaluated not reviewed unknown Array 99 10756 0.00920417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NGEF Glu82Lys E82K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - ANGPT4 Leu181Pro L181P not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - ADAM33 Asn109Ser N109S not reviewed Insufficiently evaluated not reviewed unknown Array rs41467948 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - CD93 Ala512Pro A512P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TPX2 Val371Ala V371A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.064 - - 2 - 0 N - - DHX35 Asn441Ser N441S not reviewed Insufficiently evaluated not reviewed unknown Array rs61757594 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - CR593014 Ser12Gly S12G not reviewed Insufficiently evaluated not reviewed unknown Array rs7273973 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LPIN3 Asp199Ala D199A not reviewed Insufficiently evaluated not reviewed unknown Array 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 1 N - - MATN4 Arg551Cys R551C not reviewed Insufficiently evaluated not reviewed unknown Array rs2233105 180 10758 0.0167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RBPJL Glu32Lys E32K not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBPJL Gly125Val G125V not reviewed Insufficiently evaluated not reviewed unknown Array rs35472429 15 9924 0.00151149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DIDO1 Ala487Val A487V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF201 Arg173Del R173Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCMTD2 Lys266Gln K266Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - TMPRSS15 Ser545Cys S545C not reviewed Insufficiently evaluated not reviewed unknown Array rs8134187 590 10758 0.0548429 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 0 N - - ADAMTS5 Ala448Val A448V not reviewed Insufficiently evaluated not reviewed unknown Array 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 2 - 2 N - - IFNGR2 Lys182Glu K182E not reviewed Insufficiently evaluated not reviewed unknown Array rs17878711 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y - 0 - 1 N - - MX1 Asp128Asn D128N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - -1 - 1 N - - MX1 Gly316Arg G316R not reviewed Insufficiently evaluated not reviewed unknown Array rs62623435 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 6 Y 2 N - - LSS Ala269Thr A269T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17RA Val25Leu V25L not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL17RA Ala411Val A411V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - HIRA Arg196His R196H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - GNB1L Glu30Lys E30K not reviewed Insufficiently evaluated not reviewed unknown Array rs35178436 213 10758 0.0197992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - AK311676 Met8Ile M8I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK311676 Arg300Cys R300C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF74 His570Gln H570Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGL4 Arg129His R129H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO18B Asp1544Glu D1544E not reviewed Insufficiently evaluated not reviewed unknown Array 16 10444 0.00153198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TTC28 Gly1914Ser G1914S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RFPL1 Arg244Gln R244Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734565 84 10754 0.00781105 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - OSM Arg170Gly R170G not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 6 Y 1 N - - SMTN Ala494Val A494V not reviewed Insufficiently evaluated not reviewed unknown Array rs11913728 136 10756 0.0126441 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SFI1 Val302Met V302M not reviewed Insufficiently evaluated not reviewed unknown Array 52 9800 0.00530612 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFPL2 Asp143Asn D143N not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMPRSS6 Ser288Leu S288L not reviewed Insufficiently evaluated not reviewed unknown Array rs5995378 137 10744 0.0127513 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 6 Y 1 N - - BAIAP2L2 Arg436Gln R436Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10004 0.00039984 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - ADSL Ala206Ser A206S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.975 Y - -1 - 3 N - - EFCAB6 Asn1050Ser N1050S not reviewed Insufficiently evaluated not reviewed unknown Array rs35071274 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - PHF21B Arg269Gln R269Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - RIBC2 Leu275Phe L275F not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FBLN2 Thr682Ala T682A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10006 0.00119928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCL2 Pro839Ser P839S not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF48 Asp154Glu D154E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ARPP21 Pro586Leu P586L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - ZNF619 Gln423Arg Q423R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - HHATL Arg73Cys R73C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 8 Y 2 N - - SETD2 Pro638Leu P638L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ERC2 His240Gln H240Q not reviewed Insufficiently evaluated not reviewed unknown Array 255 10162 0.0250935 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -1 - 0 N - - ROBO1 Glu597Ala E597A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 3 - 2 N - - C3ORF26 Glu138Gly E138G not reviewed Insufficiently evaluated not reviewed unknown Array rs11537817 178 10754 0.016552 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IFT57 Gly12Ala G12A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 1 - 1 N - - ZBTB20 Ala620Val A620V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - B4GALT4 Ala344Ser A344S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - -1 - 0 N - - POPDC2 Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - LRRC58 Glu169Gly E169G not reviewed Insufficiently evaluated not reviewed unknown Array 47 9412 0.00499362 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.982 - - 6 Y 2 N - - POLQ Met1507Thr M1507T not reviewed Insufficiently evaluated not reviewed unknown Array rs35877350 78 10752 0.00725446 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEG1 Gln774Arg Q774R not reviewed Insufficiently evaluated not reviewed unknown Array 31 10184 0.00304399 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - HEG1 Ala697Thr A697T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10212 0.00313357 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.195 - - 1 - 0 N - - CCDC37 Gly320Asp G320D not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.743 - - 4 Y 1 N - - EEFSEC Arg591His R591H not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C3ORF25 Val491Leu V491L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10314 0.00155129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF25 Arg338His R338H not reviewed Insufficiently evaluated not reviewed unknown Array 99 10492 0.00943576 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL6A6 Val475Ile V475I not reviewed Insufficiently evaluated not reviewed unknown Array 58 9780 0.00593047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - -4 - 0 N - - ATP2C1 Val231Ile V231I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - CLSTN2 Glu910Lys E910K not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.638 - - 0 - 1 N - - PLS1 Val553Ile V553I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - -4 - 1 N - - FAM194A Thr267Ser T267S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - IGSF10 Val1522Ile V1522I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741157 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - -4 - 1 N - - IGSF10 Thr1370Ile T1370I not reviewed Insufficiently evaluated not reviewed unknown Array rs34933248 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 3 - 1 N - - IGSF10 Glu960Gln E960Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35983399 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - SI Arg774Lys R774K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PCLD Arg1032Gln R1032Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 0 - 2 N - - FNDC3B Tyr751Cys Y751C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - GHSR Lys352Glu K352E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 0 - 1 N - - ATP13A4 Val1001Met V1001M not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LSG1 Pro352Ser P352S not reviewed Insufficiently evaluated not reviewed unknown Array rs34690286 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC33 Asp540Glu D540E not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIGZ Ala124Val A124V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10734 0.00279486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF718 His277Arg H277R not reviewed Insufficiently evaluated not reviewed unknown Array rs62638701 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF718 Ile57Val I57V not reviewed Insufficiently evaluated not reviewed unknown Array rs62638701 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM193A Asn967Ser N967S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM193A Lys1015Arg K1015R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - SORCS2 Ser484Ile S484I not reviewed Insufficiently evaluated not reviewed unknown Array 32 9986 0.00320449 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.208 - - 5 Y 1 N - - SH3TC1 Gly803Ser G803S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10752 0.00279018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF518B Ala761Ser A761S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - RFC1 Cys915Ser C915S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCAF4L1 GluGly147AspStop EG147DX not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - CORIN Gln568Pro Q568P not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CORIN Thr555Ile T555I not reviewed Insufficiently evaluated not reviewed unknown Array 230 10758 0.0213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TXK Cys19Phe C19F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 4 Y 2 N - - SCFD2 Pro157Ser P157S not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - LNX1 Asp9Asn D9N not reviewed Insufficiently evaluated not reviewed unknown Array 44 7820 0.0056266 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -1 - 0 N - - SULT1B1 Ala169Asp A169D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 5 Y 2 N - - CSN2 Leu196Phe L196F not reviewed Insufficiently evaluated not reviewed unknown Array 157 10758 0.0145938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - 0 - 0 N - - CSN2 Val193Ile V193I not reviewed Insufficiently evaluated not reviewed unknown Array 159 10758 0.0147797 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - MUC7 Pro292Gln P292Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41439647 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC7 Pro298Ser P298S not reviewed Insufficiently evaluated not reviewed unknown Array rs41396247 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RASSF6 Arg184Lys R184K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -3 - 2 N - - BMP3 Thr348Met T348M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 2 - 0 N - - SEC31A Asp528Val D528V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BANK1 Glu524Asp E524D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.35 - - -2 - 1 N - - C4ORF21 Asn360Asp N360D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAT4 His254Leu H254L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9880 0.000101214 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - FAT4 Phe1321Ser F1321S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9648 0.000310945 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAT4 Asp2022Gly D2022G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - C4ORF51 Thr99Ala T99A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0922 Pro45Arg P45R not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - DCHS2 Thr2731Ile T2731I not reviewed Insufficiently evaluated not reviewed unknown Array rs61738813 73 10758 0.00678565 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.099 - - 3 - 0 N - - DCHS2 Arg2237Cys R2237C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746061 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 8 Y 0 N - - TRIM75 Ser283Cys S283C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - DDX60 Asn1617Ser N1617S not reviewed Insufficiently evaluated not reviewed unknown Array 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - DDX60 Pro1606Leu P1606L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - NEK1 His988Arg H988R not reviewed Insufficiently evaluated not reviewed unknown Array 5 9632 0.000519102 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - VEGFC Glu104Asp E104D not reviewed Insufficiently evaluated not reviewed unknown Array 4 9724 0.000411353 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEKHG4B His848Arg H848R not reviewed Insufficiently evaluated not reviewed unknown Array rs61750331 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 1 - 0 N - - PDCD6 Arg167His R167H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - SLC6A18 Arg593Trp R593W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLPTM1L Arg329Cys R329C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - KIAA0947 Ser1655Leu S1655L not reviewed Insufficiently evaluated not reviewed unknown Array rs61736810 87 10238 0.00849775 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - NM_001001702 Arg10Leu R10L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDZD2 His1286Asn H1286N not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPEF2 Pro545Ser P545S not reviewed Insufficiently evaluated not reviewed unknown Array 19 9642 0.00197054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - SPEF2 Ala999Thr A999T not reviewed Insufficiently evaluated not reviewed unknown Array rs115170604 382 9910 0.0385469 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF33 Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9668 0.000103434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EGFLAM Ser154Leu S154L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 6 Y 2 N - - MRPS30 Arg310Gly R310G not reviewed Insufficiently evaluated not reviewed unknown Array rs34522103 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - EMB Ser309Gly S309G not reviewed Insufficiently evaluated not reviewed unknown Array 19 10706 0.00177471 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - KIF2A Gly150Ala G150A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAST4 Ser2047Gly S2047G not reviewed Insufficiently evaluated not reviewed unknown Array rs56027793 54 9840 0.0054878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CMYA5 Glu110Lys E110K not reviewed Insufficiently evaluated not reviewed unknown Array rs16877111 7 9616 0.000727953 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CMYA5 Glu2331Lys E2331K not reviewed Insufficiently evaluated not reviewed unknown Array 13 9596 0.00135473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - 0 - 2 N - - CMYA5 Leu2375Phe L2375F not reviewed Insufficiently evaluated not reviewed unknown Array 14 9682 0.00144598 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - DQ579214 Ile124Thr I124T not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFYVE16 Ile691Met I691M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10756 0.00418371 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSH3 Ser490Tyr S490Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTC37 Gly1335Asp G1335D not reviewed Insufficiently evaluated not reviewed unknown Array 23 10754 0.00213874 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 4 Y 1 N - - EPB41L4A Ala666Val A666V not reviewed Insufficiently evaluated not reviewed unknown Array rs1551935 29 9546 0.00303792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_173800 Ala693Val A693V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10752 0.00399926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM13B Val448Ala V448A not reviewed Insufficiently evaluated not reviewed unknown Array rs34183994 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC36A2 Ala348Val A348V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GALNT10 Asn170Ser N170S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 0 - 2 N - - GEMIN5 Asp1402Gly D1402G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - GEMIN5 Tyr660Cys Y660C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KIF4B Val200Met V200M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.957 - - 0 - 2 N - - HAVCR1 SerIle195ThrVal SI195TV not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STK10 Arg268Cys R268C not reviewed Insufficiently evaluated not reviewed unknown Array rs35826078 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 8 Y 2 N - - HIGD2A Val20Ile V20I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - DOK3 Leu60Arg L60R not reviewed Insufficiently evaluated not reviewed unknown Array rs34005839 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 6 Y 0 N - - ZFP2 Ile347Val I347V not reviewed Insufficiently evaluated not reviewed unknown Array rs61746657 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - -4 - 2 N - - GRM6 Thr863Met T863M not reviewed Insufficiently evaluated not reviewed unknown Array rs61733042 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.323 Y - 2 - 2 N - - BX648737 Lys173Asn K173N not reviewed Insufficiently evaluated not reviewed unknown Array rs61745940 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXOC2 Val587Ile V587I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744205 123 10758 0.0114334 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM50B Gly140Arg G140R not reviewed Insufficiently evaluated not reviewed unknown Array rs34635612 14 10748 0.00130257 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NRN1 Gly7Ser G7S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - HIST1H1T Pro156Ser P156S not reviewed Insufficiently evaluated not reviewed unknown Array rs61729265 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - NKAPL Leu354Val L354V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737340 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - HLA-C Arg121Ser R121S not reviewed Insufficiently evaluated not reviewed unknown Array rs41556316 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 3 - 0 N - - NOTCH4 Gly835Val G835V not reviewed Insufficiently evaluated not reviewed unknown Array rs9267835 150 7280 0.0206044 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - IP6K3 Arg60Trp R60W not reviewed Insufficiently evaluated not reviewed unknown Array rs34431226 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 2 N - - FRS3 Leu328Pro L328P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - TRERF1 Glu967Del E967Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBR2 Cys837Arg C837R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - KIAA0240 Ala1020Val A1020V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - CDC5L Thr117Ala T117A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TDRD6 Gln1484Arg Q1484R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.236 - - 0 - 1 N - - CD2AP Lys633Arg K633R not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.956 Y - -3 - 3 N - - DST Met4883Val M4883V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LGSN Asp442Gly D442G not reviewed Insufficiently evaluated not reviewed unknown Array rs35039535 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LGSN Pro128Gln P128Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BAI3 Asp77Asn D77N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.583 - - -1 - 1 N - - COL19A1 Pro733Ser P733S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.113 - - 3 - 0 N - - C6ORF57 Gln46Trp Q46W not reviewed Insufficiently evaluated not reviewed unknown Array rs61735710 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL12A1 Thr786Met T786M not reviewed Insufficiently evaluated not reviewed unknown Array 9 9652 0.000932449 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - COL12A1 Ala506Gly A506G not reviewed Insufficiently evaluated not reviewed unknown Array 5 9598 0.000520941 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - ZNF292 Asp993Asn D993N not reviewed Insufficiently evaluated not reviewed unknown Array rs9444489 123 9638 0.012762 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GABRR2 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array rs61739705 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDN1 Val5494Leu V5494L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDN1 Arg2405Gln R2405Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - AIM1 Leu1096Val L1096V not reviewed Insufficiently evaluated not reviewed unknown Array rs1350902 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 0 - 2 N - - AK094715 His186Asp H186D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - BC107113 Tyr190Cys Y190C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - ZUFSP Asn102Asp N102D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF170 Ile584Thr I584T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMPDL3A Gln384Leu Q384L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 5 Y 0 N - - ENPP1 Pro638Ser P638S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYCT1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -1 - 0 N - - ARID1B Tyr517Phe Y517F not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAP3K4 Val335Ile V335I not reviewed Insufficiently evaluated not reviewed unknown Array rs35730939 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - PDE10A Pro477Ala P477A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733392 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.644 - - 2 - 1 N - - WDR27 Thr684Met T684M not reviewed Insufficiently evaluated not reviewed unknown Array 34 9814 0.00346444 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PAPOLB Pro12Leu P12L not reviewed Insufficiently evaluated not reviewed unknown Array 74 9774 0.00757111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF216 Asn324Ser N324S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZDHHC4 Leu156Val L156V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TMEM195 Ile337Met I337M not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - NUDCD3 Glu123Ile E123I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZMIZ2 Val685Met V685M not reviewed Insufficiently evaluated not reviewed unknown Array 104 10522 0.00988405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - PKD1L1 Thr985Ile T985I not reviewed Insufficiently evaluated not reviewed unknown Array 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - SEPT14 Leu140Ile L140I not reviewed Insufficiently evaluated not reviewed unknown Array 22 9676 0.00227367 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.192 - - -2 - 0 N - - SEPT14 Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array 110 9444 0.0116476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.264 - - 1 - 1 N - - TPST1 Val310Ile V310I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.183 - - -4 - 0 N - - GTF2IRD1 Arg209Trp R209W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - DBF4 His123Arg H123R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - ZNF804B Ile965Val I965V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZCWPW1 Leu515Pro L515P not reviewed Insufficiently evaluated not reviewed unknown Array 3 9984 0.00030048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZAN Ala2153Pro A2153P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MOGAT3 Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 1 - 0 N - - LAMB1 Arg853Trp R853W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.786 - - 7 Y 1 N - - ASB15 Arg282Gln R282Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCC1 Gln262Arg Q262R not reviewed Insufficiently evaluated not reviewed unknown Array rs35390108 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - NUP205 Pro164Ser P164S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 3 - 0 N - - ATP6V0A4 Thr769Met T769M not reviewed Insufficiently evaluated not reviewed unknown Array rs61747678 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - RAB19 Leu112Phe L112F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6W1P Arg156Cys R156C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PIP Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.666 - - -4 - 1 N - - TAS2R40 Gln90Arg Q90R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.609 - - 0 - 1 N - - NOBOX Lys371Thr K371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001126313 Pro74Leu P74L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753906 3 114 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF786 Lys432Glu K432E not reviewed Insufficiently evaluated not reviewed unknown Array rs34255334 128 10680 0.011985 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 0 - 0 N - - SMARCD3 Pro87Ser P87S not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRN2 Cys753Tyr C753Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - WDR60 Gly301Val G301V not reviewed Insufficiently evaluated not reviewed unknown Array 9 9926 0.000906709 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARHGEF10 Ser1305Leu S1305L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RP1L1 Gln1561Pro Q1561P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSGALNACT1 Phe471Tyr F471Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17128366 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PEBP4 Ser163Cys S163C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9872 0.000101296 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 3 - 2 N - - ENTPD4 Pro20Ser P20S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - C8ORF80 Ala186Val A186V not reviewed Insufficiently evaluated not reviewed unknown Array 409 10328 0.0396011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIF13B Ile800Val I800V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.213 - - -4 - 1 N - - SLC20A2 Ala400Thr A400T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TERF1 Asp334Glu D334E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC10A5 Ile88Val I88V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - CNBD1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 145 9934 0.0145963 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - KIAA1429 Val1519Leu V1519L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - C8ORF38 Val214Ala V214A not reviewed Insufficiently evaluated not reviewed unknown Array 3 9858 0.000304321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZFPM2 Gln889Glu Q889E not reviewed Insufficiently evaluated not reviewed unknown Array 4 9908 0.000403714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FER1L6 Asp1162Asn D1162N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - FAM135B Lys853Glu K853E not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL22A1 Pro763Leu P763L not reviewed Insufficiently evaluated not reviewed unknown Array 140 10756 0.013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_207414 Leu908Phe L908F not reviewed Insufficiently evaluated not reviewed unknown Array 14 10194 0.00137336 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OPLAH Pro908Ser P908S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10386 0.00423647 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OPLAH Ala900Val A900V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10310 9.6993e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RCL1 Cys104Trp C104W not reviewed Insufficiently evaluated not reviewed unknown Array rs41314197 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - KIAA2026 Pro1347Arg P1347R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9714 0.000102944 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.059 - - 5 Y 0 N - - TEK Ala226Val A226V not reviewed Insufficiently evaluated not reviewed unknown Array rs35814893 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - UBAP2 Ser543Leu S543L not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - RG9MTD3 Ile194Val I194V not reviewed Insufficiently evaluated not reviewed unknown Array 42 10014 0.00419413 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SHB Ala228Thr A228T not reviewed Insufficiently evaluated not reviewed unknown Array 11 9646 0.00114037 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TJP2 Ser713Gly S713G not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 2 - 1 N - - MAMDC2 Arg625Gln R625Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 0 - 2 N - - FOXB2 Lys41Asn K41N not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RMI1 Ile530Val I530V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - COL15A1 Lys1001Arg K1001R not reviewed Insufficiently evaluated not reviewed unknown Array rs35544077 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - -3 - 1 N - - SVEP1 Pro1258Leu P1258L not reviewed Insufficiently evaluated not reviewed unknown Array 8 9698 0.000824912 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - SVEP1 Ile617Val I617V not reviewed Insufficiently evaluated not reviewed unknown Array 163 9880 0.016498 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.349 - - -4 - 1 N - - SLC46A2 Asp257Asn D257N not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR107 Ala551Thr A551T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - QRFP Arg87His R87H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LAMC3 His830Arg H830R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NACC2 Ala535Ser A535S not reviewed Insufficiently evaluated not reviewed unknown Array 130 9850 0.013198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -1 - 1 N - - SNAPC4 Ala190Val A190V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C9ORF86 Arg533His R533H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10518 0.00361285 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARSF Thr132Met T132M not reviewed Insufficiently evaluated not reviewed unknown Array 222 8761 0.0253396 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - TBL1X Ala5Ser A5S not reviewed Insufficiently evaluated not reviewed unknown Array 52 8676 0.00599355 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - SHROOM2 Arg517His R517H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744793 41 8733 0.00469483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 1 - 2 N - - ARHGAP6 Leu99Phe L99F not reviewed Insufficiently evaluated not reviewed unknown Array 3 8707 0.00034455 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - 0 - 0 N - - DDX53 His38Arg H38R not reviewed Insufficiently evaluated not reviewed unknown Array 44 8761 0.00502226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 1 - 0 N - - DCAF8L1 Ile143Val I143V not reviewed Insufficiently evaluated not reviewed unknown Array rs61735182 36 8759 0.00411006 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAGEB16 Asp114Asn D114N not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CXORF30 Glu41Lys E41K not reviewed Insufficiently evaluated not reviewed unknown Array 10 2482 0.00402901 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM47C Pro538Ser P538S not reviewed Insufficiently evaluated not reviewed unknown Array 3 8759 0.000342504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYTL5 Asp365Glu D365E not reviewed Insufficiently evaluated not reviewed unknown Array 37 8759 0.00422423 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - CCDC22 Arg270Trp R270W not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 7 Y 1 N - - BC093945 Gly55Glu G55E not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PHF8 Ala797Thr A797T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASB12 Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array rs34782767 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NM_001127438 Ile276Phe I276F not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VSIG1 Asp181Val D181V not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - DOCK11 Thr285Ala T285A not reviewed Insufficiently evaluated not reviewed unknown Array 68 8761 0.00776167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM122C Met6Val M6V not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - GPR112 Arg54Gln R54Q not reviewed Insufficiently evaluated not reviewed unknown Array 134 8761 0.0152951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CXORF40B Cys53Trp C53W not reviewed Insufficiently evaluated not reviewed unknown Array rs542089 70 8732 0.00801649 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAGEA4 Pro31Ser P31S not reviewed Insufficiently evaluated not reviewed unknown Array rs61743686 7 8761 0.000798995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SRPK3 Trp237Arg W237R not reviewed Insufficiently evaluated not reviewed unknown Array 13 8748 0.00148605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VAMP7 Val28Ala V28A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 2 - 2 N - - MMACHC Ala256Thr A256T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RPE65 Lys295Arg K295R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y -3 - 2 N - - C1ORF162 Asp101Shift D101Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOTCH2 Ser220Arg S220R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 3 - 4 N - - FLG Arg2540His R2540H not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.584 Y Y 1 - 3 N - - FLG Ser2539Thr S2539T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y Y -2 - 2 N - - F5 Thr702Ile T702I not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - FMO4 Arg249Stop R249X not reviewed Insufficiently evaluated not reviewed unknown Array rs2020866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC9A11 Leu844Shift L844Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASPM Ala75Thr A75T not reviewed Insufficiently evaluated not reviewed unknown Array rs61995747 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - CRB1 Pro836Thr P836T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 4 Y 4 N - - RYR2 Val507Ile V507I not reviewed Insufficiently evaluated not reviewed unknown Array rs16835270 115 9878 0.011642 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - VCL Thr263Ser T263S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.153 Y Y -2 - 2 N - - NM_001042376 Leu68Shift L68Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMPD1 Met33Ile M33I not reviewed Insufficiently evaluated not reviewed unknown Array 46 10696 0.00430067 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - KCNC1 Cys488Shift C488Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCF Ser191Arg S191R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - TCN1 Val58Shift V58Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34530014 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRP5 Ile548Val I548V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.01 Y Y -4 - 2 N - - IGHMBP2 Ala670Asp A670D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - ATM Ser788Arg S788R not reviewed Insufficiently evaluated not reviewed unknown Array rs641252 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - ATM Ile2030Val I2030V not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ALG9 Tyr591His Y591H not reviewed Insufficiently evaluated not reviewed unknown Array 11 9766 0.00112636 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y -1 - 4 N - - PARP11 Arg185Shift R185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PUS7L Arg308Stop R308X not reviewed Insufficiently evaluated not reviewed unknown Array 16 10754 0.00148782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - VDR Pro155Thr P155T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.956 Y - 4 Y 3 N - - SLC4A8 Phe290Shift F290Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC009385 Arg52Shift R52Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TBK1 Lys291Shift K291Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAD9B Lys416Shift K416Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NCOR2 Thr1708Shift T1708Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PARP4 Gln1018Stop Q1018X not reviewed Insufficiently evaluated not reviewed unknown Array 3 108 0.0277778 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSC22D1 Gln507Shift Q507Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DQ866763 Leu234Shift L234Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NUBPL Leu45Shift L45Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MGAT2 Glu438Val E438V not reviewed Insufficiently evaluated not reviewed unknown Array rs3007039 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.712 Y Y 5 Y 3 N - - SPATA7 Cys308Tyr C308Y not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.168 Y Y 6 Y 2 N - - SPATA7 His413Arg H413R not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.232 Y Y 1 - 3 N - - CINP Leu40Shift L40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCI Ser454Cys S454C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - AK309376 His160Shift H160Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSC2 Ala1141Val A1141V not reviewed Insufficiently evaluated not reviewed unknown Array rs34870424 70 10752 0.00651042 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TSC2 Gly1439Asp G1439D not reviewed Insufficiently evaluated not reviewed unknown Array 47 10666 0.00440652 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.043 Y Y 4 Y 2 N - - PKD1 Gln2182Arg Q2182R not reviewed Insufficiently evaluated not reviewed unknown Array 49 10468 0.00468093 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - MEFV Gln440Glu Q440E not reviewed Insufficiently evaluated not reviewed unknown Array rs11466026 39 10758 0.00362521 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.537 Y Y -2 - 3 N - - AQP8 Glu4Stop E4X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GPR56 Ser214Leu S214L not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - NFAT5 Gln1088Shift Q1088Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NQO1 Arg119Shift R119Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK055272 Arg36Shift R36Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COG1 Val259Leu V259L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.73 Y Y 0 - 3 N - - AX746631 Glu54Stop E54X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ADAMTS10 Pro826His P826H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10736 0.000186289 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.051 Y Y 5 Y 2 N - - RYR1 Ala1352Gly A1352G not reviewed Insufficiently evaluated not reviewed unknown Array 30 9370 0.00320171 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.012 Y Y 1 - 2 N - - RYR1 Thr2787Ser T2787S not reviewed Insufficiently evaluated not reviewed unknown Array rs35180584 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.973 Y Y -2 - 4 N - - MATN3 Asp471Ala D471A not reviewed Insufficiently evaluated not reviewed unknown Array 1 9524 0.000104997 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.131 Y Y 5 Y 2 N - - FAM179A Arg162Stop R162X not reviewed Insufficiently evaluated not reviewed unknown Array 34 9836 0.00345669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCN1A Ala23Val A23V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DCAF17 Trp103Stop W103X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TTN Ile30483Leu I30483L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Asn28069Ser N28069S not reviewed Insufficiently evaluated not reviewed unknown Array rs72648245 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Pro25577Leu P25577L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Arg18432Gln R18432Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72646851 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Val17501Met V17501M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ala12997Ser A12997S not reviewed Insufficiently evaluated not reviewed unknown Array 14 9556 0.00146505 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Glu190Shift E190Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TTN Ala189Shift A189Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SATB2 Ala715Shift A715Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GIGYF2 Val685Shift V685Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RPN2 Gln412Stop Q412X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRTAP6-2 Tyr40Shift Y40Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLCS Gly510Arg G510R not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 6 Y 1 N - - KRTAP10-6 Cys46Shift C46Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71738113 1 62 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYH9 Ala1484Glu A1484E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 3 - 2 N - - FANCD2 Ile172Met I172M not reviewed Insufficiently evaluated not reviewed unknown Array rs35173688 260 10758 0.0241681 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - BTD His485Gln H485Q not reviewed Insufficiently evaluated not reviewed recessive Array 1 128 0.0078125 1 0 1 2 2 1 Y - - - - - - 4 Y 5 Y Y - - - 0.437 Y Y -1 - 3 N - - SCN5A Arg533His R533H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10234 0.000195427 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - COL7A1 Thr952Gly T952G not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PBRM1 Tyr664Stop Y664X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRKCD Asp434Shift D434Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL6A6 Arg1956Shift R1956Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC39 Ser888Shift S888Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DOK7 Arg98Leu R98L not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - WFS1 Arg285His R285H not reviewed Insufficiently evaluated not reviewed unknown Array rs61735404 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - PROM1 Tyr175Cys Y175C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10158 0.000295333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 6 Y 3 N - - HERC6 Gln1020Stop Q1020X not reviewed Insufficiently evaluated not reviewed unknown Array rs4413373 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MTRR Ala176Val A176V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LIFR Arg10Stop R10X not reviewed Insufficiently evaluated not reviewed unknown Array rs3729732 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - VCAN Ser1635Stop S1635X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - TSLP Arg15Shift R15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBN2 Ile2219Val I2219V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FBN2 Gln1256Arg Q1256R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FBN2 Arg566Lys R566K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - NSD1 Gly1231Glu G1231E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 6 Y 2 N - - ZNF354A Ile208Shift I208Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BTNL8 Arg215Stop R215X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SCAND3 Arg480Stop R480X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HSD17B8 Tyr169Shift Y169Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MDN1 Glu2315Shift E2315Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AHI1 Gln944Arg Q944R not reviewed Insufficiently evaluated not reviewed unknown Array 4 9710 0.000411946 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.014 Y Y 0 - 2 N - - AHI1 Pro242Ser P242S not reviewed Insufficiently evaluated not reviewed unknown Array 18 9498 0.00189514 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.979 Y Y 3 - 4 N - - INMT Arg123Stop R123X not reviewed Insufficiently evaluated not reviewed unknown Array rs6966017 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC13A4 Val46Shift V46Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 120 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLN8 Ala4Val A4V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NBN Asn716Asp N716D not reviewed Insufficiently evaluated not reviewed unknown Array rs72563785 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.837 Y Y -1 - 3 N - - RECQL4 Val364Met V364M not reviewed Insufficiently evaluated not reviewed unknown Array 38 10242 0.00371021 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RECQL4 Gly131Arg G131R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SLC1A1 Ile481Asn I481N not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.803 Y - 7 Y 2 N - - C9ORF93 Asn419Shift N419Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPAG8 Arg310Stop R310X not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LCN15 Ser140Shift S140Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTLL10 Ile384Val I384V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - ERRFI1 Asp277Asn D277N not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - -1 - 0 N - - AADACL3 Ile233Asn I233N not reviewed Insufficiently evaluated not reviewed unknown Array 26 9780 0.00265849 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRAMEF12 Cys136Ser C136S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10728 0.000186428 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 3 - 1 N - - KIF17 Val735Ile V735I not reviewed Insufficiently evaluated not reviewed unknown Array rs13375609 132 10718 0.0123157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HSPG2 Val2291Ile V2291I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HSPG2 Val1283Ile V1283I not reviewed Insufficiently evaluated not reviewed unknown Array rs62642527 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HSPG2 Gln653His Q653H not reviewed Insufficiently evaluated not reviewed unknown Array rs62642535 28 10726 0.00261048 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CELA3B Gln134Leu Q134L not reviewed Insufficiently evaluated not reviewed unknown Array rs4272592 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LUZP1 Thr727Ala T727A not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LUZP1 Arg281Cys R281C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - SYF2 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array rs34639798 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - AHDC1 Ala157Val A157V not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 0 N - - MACF1 Glu1381Lys E1381K not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0754 Ser1169Pro S1169P not reviewed Insufficiently evaluated not reviewed unknown Array 1 14 0.0714286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - RLF Val932Ala V932A not reviewed Insufficiently evaluated not reviewed unknown Array rs35563960 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.683 - - 2 - 1 N - - HIVEP3 Gly1915Ser G1915S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10694 0.000561062 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - HIVEP3 Thr1587Met T1587M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 2 - 0 N - - AKR1A1 Leu37Phe L37F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 0 - 0 N - - RAD54L Arg202Cys R202C not reviewed Insufficiently evaluated not reviewed unknown Array rs28363218 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 8 Y 0 N - - KTI12 Gly234Asp G234D not reviewed Insufficiently evaluated not reviewed unknown Array 41 10756 0.00381183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.475 - - 4 Y 1 N - - AK127270 Trp188Arg W188R not reviewed Insufficiently evaluated not reviewed unknown Array 26 3234 0.00803958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LHX8 ValThr294ProPro VT294PP not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC8C Pro508Leu P508L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1107 Asn463Asp N463D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA4 Ser206Arg S206R not reviewed Insufficiently evaluated not reviewed unknown Array rs61748536 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 3 - 3 N - - AMY2B Met289Ile M289I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.962 - - -1 - 2 N - - AMPD2 Arg327Gln R327Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.089 - - 0 - 0 N - - ALX3 Arg235Cys R235C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - ST7L Ala68Ser A68S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10450 0.00229665 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - PDE4DIP Ser1941Tyr S1941Y not reviewed Insufficiently evaluated not reviewed unknown Array 168 10754 0.0156221 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 5 Y 1 N - - PDE4DIP Pro1685His P1685H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.736 - - 5 Y 1 N - - PDE4DIP Arg1504Trp R1504W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 7 Y 0 N - - CGN Arg718Trp R718W not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCE2C Ser51Ile S51I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LCE2C Ser54Gly S54G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KPRP Arg419His R419H not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCST1 Ala199Val A199V not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLK2 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RXFP4 Gly110Arg G110R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - FCRL5 Pro223Leu P223L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD1A Ala33Thr A33T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR10J3 Ile69Val I69V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FCER1G Pro22Thr P22T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - FCRLA Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741803 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -3 - 2 N - - MAEL Val388Phe V388F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - 3 - 1 N - - PRRC2C Ala110Ser A110S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRRC2C Pro1926Ala P1926A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNR Arg803Gly R803G not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HMCN1 Ile2303Thr I2303T not reviewed Insufficiently evaluated not reviewed unknown Array 134 10756 0.0124582 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - HMCN1 Pro4108Ala P4108A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 2 - 3 N - - PRG4 Thr555Ile T555I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - C1ORF106 Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKP1 Arg116His R116H not reviewed Insufficiently evaluated not reviewed unknown Array rs34626929 288 10750 0.0267907 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - PPP1R12B Tyr241Cys Y241C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10752 0.00334821 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPRS Val32Ile V32I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.167 - - -4 - 0 N - - NVL Val404Ile V404I not reviewed Insufficiently evaluated not reviewed unknown Array rs34631151 367 10758 0.0341141 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - -4 - 2 N - - OBSCN Ala4241Ser A4241S not reviewed Insufficiently evaluated not reviewed unknown Array rs55704206 248 10342 0.0239799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - -1 - 1 N - - NUP133 Ser399Phe S399F not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 5 Y 2 N - - ABCB10 Asn697Ser N697S not reviewed Insufficiently evaluated not reviewed unknown Array 264 10758 0.0245399 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - TAF5L Arg166His R166H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - TTC13 Gly290Arg G290R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR137B Gly373Val G373V not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.376 - - 8 Y 1 N - - FMN2 Ala1095Ser A1095S not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR2T8 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 2 - 2 N - - OR2L8 Met283Val M283V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10754 0.00195276 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.165 - - 0 - 0 N - - OR2M5 Gln100Arg Q100R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - OR2T4 Gly20Glu G20E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 6 Y 0 N - - ASB13 Arg134Ser R134S not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.657 - - 3 - 1 N - - CAMK1D Arg126Cys R126C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - CUBN Ser1459Cys S1459C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - CUBN Ala1098Ser A1098S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - KIAA1217 Asp18Gly D18G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 4 Y 0 N - - APBB1IP His95Tyr H95Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - -1 - 2 N - - MPP7 Ala106Thr A106T not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - CUL2 Ala403Val A403V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - CREM Thr214Ser T214S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FRMPD2 Ile820Thr I820T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - WDFY4 Val3108Ala V3108A not reviewed Insufficiently evaluated not reviewed unknown Array rs61733237 34 3234 0.0105133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JMJD1C HisGlu443Gln HE443Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYPN Ile916Thr I916T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 3 - 2 N - - SH2D4B Arg303Cys R303C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ANKRD2 Gly224Arg G224R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - C10ORF28 Ala681Val A681V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LZTS2 Arg96Trp R96W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 7 Y 2 N - - GBF1 Val1196Met V1196M not reviewed Insufficiently evaluated not reviewed unknown Array rs7894865 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - GPAM Leu460Val L460V not reviewed Insufficiently evaluated not reviewed unknown Array 49 10756 0.0045556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NRAP Ile332Val I332V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABLIM1 Gly424Arg G424R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TACC2 Pro296Leu P296L not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 7 Y 0 N - - TACC2 Ser620Asn S620N not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 0 - 1 N - - HMX2 Ala222Gly A222G not reviewed Insufficiently evaluated not reviewed unknown Array 96 10724 0.00895188 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 1 - 1 N - - DOCK1 Val1748Ile V1748I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10068 0.00139054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - MKI67 Ala2796Val A2796V not reviewed Insufficiently evaluated not reviewed unknown Array rs61729197 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 2 - 0 N - - KNDC1 Lys1677Arg K1677R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.184 - - -3 - 0 N - - RNH1 Ser213Pro S213P not reviewed Insufficiently evaluated not reviewed unknown Array 28 10756 0.0026032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPS8L2 Phe346Leu F346L not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MUC5AC Met4712Thr M4712T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9644 0.000207382 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP98 Ile1498Thr I1498T not reviewed Insufficiently evaluated not reviewed unknown Array rs61756014 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNHD1 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - OVCH2 Phe228Val F228V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 3 - 2 N - - DENND5A Val247Ile V247I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GALNTL4 Asp434Asn D434N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIK3C2A Thr204Ile T204I not reviewed Insufficiently evaluated not reviewed unknown Array rs61747756 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 3 - 2 N - - SERGEF Gln105Arg Q105R not reviewed Insufficiently evaluated not reviewed unknown Array rs34960078 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.381 - - 0 - 1 N - - HPS5 Leu1033Phe L1033F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.941 - Y 0 - 3 N - - HPS5 His471Tyr H471Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 - Y -1 - 3 N - - HPS5 Ser289Thr S289T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 - Y -2 - 3 N - - PTPN5 Pro229Leu P229L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - METT5D1 Ala69Thr A69T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10750 0.00381395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DCDC1 Arg276Trp R276W not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 7 Y 2 N - - TSPAN18 Thr39Ile T39I not reviewed Insufficiently evaluated not reviewed unknown Array rs34282417 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYT13 Ala389Val A389V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CREB3L1 Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array 94 8726 0.0107724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUP160 Leu1084Met L1084M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR4C12 Val171Ile V171I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - OR8J3 Val208Phe V208F not reviewed Insufficiently evaluated not reviewed unknown Array rs1384094 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR8K3 Ile275Met I275M not reviewed Insufficiently evaluated not reviewed unknown Array rs17150317 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - -1 - 0 N - - OR8K1 Leu217Phe L217F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - OR5R1 Tyr132His Y132H not reviewed Insufficiently evaluated not reviewed unknown Array rs17150578 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - OR5M8 Ile125Val I125V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - OR5M11 Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.209 - - 8 Y 1 N - - OR5AP2 Gln106Arg Q106R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732328 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 0 - 2 N - - TNKS1BP1 Glu235Gly E235G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBE2L6 Lys17Glu K17E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6Q1 Ile88Phe I88F not reviewed Insufficiently evaluated not reviewed unknown Array rs61741314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR6Q1 Ile88Thr I88T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STX3 Ser285Pro S285P not reviewed Insufficiently evaluated not reviewed unknown Array rs34753750 75 10756 0.00697285 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPL16 Gly29Ser G29S not reviewed Insufficiently evaluated not reviewed unknown Array rs7122468 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - 2 - 2 N - - TCN1 Pro327Arg P327R not reviewed Insufficiently evaluated not reviewed unknown Array rs36044892 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.839 - - 5 Y 1 N - - MS4A8B Glu195Gln E195Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - TMEM132A Met837Ile M837I not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM138 Asp149His D149H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - AHNAK Val2788Met V2788M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - TAF6L Arg236Cys R236C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - FERMT3 Gln508Pro Q508P not reviewed Insufficiently evaluated not reviewed unknown Array 13 10722 0.00121246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC42BPG Arg457Gln R457Q not reviewed Insufficiently evaluated not reviewed unknown Array 54 10662 0.00506472 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - EHBP1L1 Ile1129Thr I1129T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - KCNK7 Glu258Gly E258G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 6 Y 2 N - - CCDC87 Arg731Gln R731Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - ALDH3B2 Ser198Phe S198F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737913 192 10752 0.0178571 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CHKA Arg367Gln R367Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CHKA Ile271Asn I271N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - AK131288 Thr135Ala T135A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UVRAG Glu219Gly E219G not reviewed Insufficiently evaluated not reviewed unknown Array 46 10754 0.00427748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.551 - - 6 Y 1 N - - LRRC32 Ala460Ser A460S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 Y - -1 - 1 N - - C11ORF82 Val130Ala V130A not reviewed Insufficiently evaluated not reviewed unknown Array 45 10752 0.00418527 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SRSF8 Ala220Val A220V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10674 0.00140528 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1377 Met1021Thr M1021T not reviewed Insufficiently evaluated not reviewed unknown Array rs7111429 148 10758 0.0137572 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.956 - - 2 - 2 N - - MMP25 Met92Val M92V not reviewed Insufficiently evaluated not reviewed unknown Array rs61730848 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP3 Arg316Cys R316C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CASP12 Asn33Ile N33I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - CASP12 Met31Arg M31R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 4 Y 0 N - - CWF19L2 Tyr610Cys Y610C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EXPH5 Ser1236Ala S1236A not reviewed Insufficiently evaluated not reviewed unknown Array rs35520914 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTC12 Met48Val M48V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NNMT Glu126Asp E126D not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - -2 - 2 N - - GRAMD1B Asn323Ser N323S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10004 0.00139944 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR6T1 Asp175Asn D175N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - OR10G7 Pro24Leu P24L not reviewed Insufficiently evaluated not reviewed unknown Array 61 10756 0.00567125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ROBO4 Gln293Leu Q293L not reviewed Insufficiently evaluated not reviewed unknown Array rs60888551 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PATE1 Ile66Val I66V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.615 - - -4 - 1 N - - CDON Phe818Leu F818L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 0 - 2 N - - BC031979 Glu106Gln E106Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC77 Glu46Lys E46K not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - FOXM1 Arg350Cys R350C not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - 8 Y 2 N - - DYRK4 Glu234Gly E234G not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ING4 Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EMG1 Arg13Leu R13L not reviewed Insufficiently evaluated not reviewed unknown Array rs36061201 90 9918 0.00907441 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - A2M Asp277Asn D277N not reviewed Insufficiently evaluated not reviewed unknown Array 47 9872 0.00476094 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C12ORF59 Pro140Ser P140S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSDA Ala352Gly A352G not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TAS2R46 Lys207Glu K207E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 0 - 1 N - - TAS2R42 Leu314Trp L314W not reviewed Insufficiently evaluated not reviewed unknown Array 106 10756 0.00985496 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.689 - - 5 Y 1 N - - C12ORF69 Cys49Arg C49R not reviewed Insufficiently evaluated not reviewed unknown Array rs11609202 259 9824 0.026364 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PIK3C2G Ala1360Val A1360V not reviewed Insufficiently evaluated not reviewed unknown Array 56 9638 0.00581033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLCO1B3 His92Arg H92R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - CASC1 Val629Ile V629I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ITPR2 Ala1459Val A1459V not reviewed Insufficiently evaluated not reviewed unknown Array 9 9460 0.000951374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 2 - 0 N - - DENND5B Lys470Arg K470R not reviewed Insufficiently evaluated not reviewed unknown Array rs34493162 36 9874 0.00364594 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCD2 Pro665Thr P665T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - LASS5 Val279Ala V279A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 2 - 0 N - - LASS5 Gly14Cys G14C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10660 0.000187617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - NR4A1 Pro186Ser P186S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 3 - 0 N - - KRT72 Arg37Gln R37Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61747194 122 8582 0.0142158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 0 - 0 N - - MAP3K12 Val848Ile V848I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR6C75 AlaPheLysSerMet298Del AFKSM298Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYL6B Ser114Asn S114N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NACA Ser958Pro S958P not reviewed Insufficiently evaluated not reviewed unknown Array 42 7168 0.00585938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SDR9C7 Arg240Cys R240C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - RDH16 Val131Met V131M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10398 0.000192344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB39 Arg338Gln R338Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.373 - - 0 - 1 N - - MARCH9 Arg325Gln R325Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM19A2 His131Pro H131P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 5 Y 2 N - - MON2 LysLeu12AsnMet KL12NM not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDM1 Val134Ala V134A not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 2 - 2 N - - CCDC59 Gln78Glu Q78E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -2 - 0 N - - SLC6A15 Ala302Val A302V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - RASSF9 Ser312Gly S312G not reviewed Insufficiently evaluated not reviewed unknown Array rs34321596 63 9612 0.00655431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - CLLU1 Ile11Val I11V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC38 Ala521Ser A521S not reviewed Insufficiently evaluated not reviewed unknown Array 99 10752 0.00920759 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - -1 - 0 N - - TMPO Ala577Val A577V not reviewed Insufficiently evaluated not reviewed unknown Array rs34150443 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - GAS2L3 Asp580Asn D580N not reviewed Insufficiently evaluated not reviewed unknown Array rs35982598 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - -1 - 0 N - - NT5DC3 Trp530Arg W530R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - TCP11L2 Val114Ile V114I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - PRDM4 Ser60Cys S60C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - USP30 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH2B3 Val276Met V276M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MED13L Met1732Leu M1732L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.853 - - -3 - 2 N - - MLXIP Val539Leu V539L not reviewed Insufficiently evaluated not reviewed unknown Array rs34702867 378 9916 0.0381202 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - AB046765 Ala323Asp A323D not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GOLGA3 Arg1243Gln R1243Q not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CHFR Pro174Ser P174S not reviewed Insufficiently evaluated not reviewed unknown Array rs34220055 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPATA13 Ile395Phe I395F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSPH1 Phe230Leu F230L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - KL Leu796Val L796V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - AK054970 His34Asn H34N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK057244 Ile529Thr I529T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.652 - - 3 - 1 N - - CDADC1 Pro68His P68H not reviewed Insufficiently evaluated not reviewed unknown Array 36 10752 0.00334821 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - DIS3 Ile845Val I845V not reviewed Insufficiently evaluated not reviewed unknown Array rs35036619 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KDELC1 Gly3Asp G3D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C13ORF28 Ile170Thr I170T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCF2L Gly232Ser G232S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRTP1 Thr227Met T227M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - BC034570 Arg137Gln R137Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4N2 Phe85Ile F85I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 2 - 0 N - - OR4K15 Arg162His R162H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SALL2 Glu769Del E769Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL25 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NGDN Glu23Lys E23K not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 0 - 2 N - - JPH4 Ala504Thr A504T not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - IPO4 Glu435Asp E435D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10406 9.6098e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KHNYN Ala336Pro A336P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - CMA1 His183Tyr H183Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.528 - - -1 - 1 N - - SOS2 Leu672Ile L672I not reviewed Insufficiently evaluated not reviewed unknown Array rs34139502 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NID2 Thr632Ala T632A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.899 - - 1 - 2 N - - SYNE2 Lys174Arg K174R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10086 0.000198294 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - PLEKHH1 Pro1208Ala P1208A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10246 0.000195198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MAP3K9 Arg546His R546H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - HEATR4 Thr91Ser T91S not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.282 - - -2 - 1 N - - ACOT2 Lys345Asn K345N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.804 - - 1 - 1 N - - LTBP2 Ala1358Ser A1358S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM63C Thr755Ser T755S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10232 0.000293197 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - PTPN21 Asp821Glu D821E not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C14ORF159 Val221Phe V221F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIP11 Gln769Pro Q769P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC24A4 Val202Met V202M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 0 - 0 N - - OTUB2 Val78Ile V78I not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SERPINA5 Asn119Ser N119S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C14ORF49 Arg864His R864H not reviewed Insufficiently evaluated not reviewed unknown Array rs17092216 157 10758 0.0145938 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0284 Ala369Val A369V not reviewed Insufficiently evaluated not reviewed unknown Array rs62641743 94 9888 0.00950647 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLD4 Arg56His R56H not reviewed Insufficiently evaluated not reviewed unknown Array rs34055454 83 10484 0.00791682 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - AHNAK2 Val1942Met V1942M not reviewed Insufficiently evaluated not reviewed unknown Array rs11850930 175 9776 0.017901 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK2 Met1479Leu M1479L not reviewed Insufficiently evaluated not reviewed unknown Array 661 8698 0.0759945 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -3 - 0 N - - AHNAK2 Glu1477Gly E1477G not reviewed Insufficiently evaluated not reviewed unknown Array 505 8438 0.0598483 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 6 Y 0 N - - AHNAK2 Glu750Gln E750Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 9646 0.000414679 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - GPR132 Ala352Ser A352S not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C15ORF29 Thr283Ser T283S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UBR1 Ile899Val I899V not reviewed Insufficiently evaluated not reviewed unknown Array rs35069201 235 10758 0.0218442 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GNB5 Ala76Val A76V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GNB5 Val8Phe V8F not reviewed Insufficiently evaluated not reviewed unknown Array rs41277710 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 3 - 0 N - - RSL24D1 Arg135Gln R135Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - TLN2 Ser938Ala S938A not reviewed Insufficiently evaluated not reviewed unknown Array 42 10754 0.00390552 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCAPER Asn1066Ser N1066S not reviewed Insufficiently evaluated not reviewed unknown Array rs35382573 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1199 Ala1063Thr A1063T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - STARD5 Cys156Phe C156F not reviewed Insufficiently evaluated not reviewed unknown Array rs61740947 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - MAN2A2 Pro139Leu P139L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UNC45A Gln251Glu Q251E not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK128777 Ser85Arg S85R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TELO2 Val515Phe V515F not reviewed Insufficiently evaluated not reviewed unknown Array 107 10756 0.00994794 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.292 - - 3 - 1 N - - MAPK8IP3 Asn941Lys N941K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10342 0.00203055 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.374 - - 1 - 1 N - - TBL3 Ala701Val A701V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10756 0.00576422 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C16ORF79 His158Arg H158R not reviewed Insufficiently evaluated not reviewed unknown Array 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC020202 Arg77Gly R77G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNASE1 Gly127Arg G127R not reviewed Insufficiently evaluated not reviewed unknown Array rs8176919 259 10756 0.0240796 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - VASN Arg256Gln R256Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10174 0.000294869 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - NAGPA His84Gln H84Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 88 0.0113636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPPED1 Val158Ile V158I not reviewed Insufficiently evaluated not reviewed unknown Array 61 10040 0.0060757 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - ITPRIPL2 Ala121Val A121V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - C16ORF82 Gly145Ser G145S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C16ORF82 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SULT1A2 Asn239Ser N239S not reviewed Insufficiently evaluated not reviewed unknown Array rs45472392 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SULT1A2 His226Asp H226D not reviewed Insufficiently evaluated not reviewed unknown Array rs11569763 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRR14 Ala208Thr A208T not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF646 Arg1556Gln R1556Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYLK3 Arg62Trp R62W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.115 - - 7 Y 0 N - - BRD7 Val623Ile V623I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FTO Ala405Val A405V not reviewed Insufficiently evaluated not reviewed unknown Array rs16952624 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLRC5 Arg750Gln R750Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - NQO1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - HYDIN Pro2175Leu P2175L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - HYDIN Leu1143Pro L1143P not reviewed Insufficiently evaluated not reviewed unknown Array rs11075834 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - CHST5 Ala308Val A308V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - WWOX Ser312Tyr S312Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 10268 0.000584339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - PLCG2 Asn571Ser N571S not reviewed Insufficiently evaluated not reviewed unknown Array 72 10188 0.00706714 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SDR42E1 Asn91Ser N91S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10124 0.00395101 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 0 - 0 N - - KIAA0182 Thr597Met T597M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10668 9.3738e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - AX747795 Arg85Pro R85P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF778 Gly217Glu G217E not reviewed Insufficiently evaluated not reviewed unknown Array 6 10194 0.000588581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 6 Y 0 N - - C16ORF3 Val56Ile V56I not reviewed Insufficiently evaluated not reviewed unknown Array rs57136347 242 10750 0.0225116 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0664 Leu428Pro L428P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - TRPV3 Arg369Trp R369W not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.304 - - 7 Y 1 N - - PELP1 Glu949Del E949Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIF1C Gly767Arg G767R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10718 0.00149281 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.559 - - 6 Y 1 N - - NLRP1 Ile448Val I448V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - DVL2 Thr269Met T269M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - 2 - 2 N - - SLC2A4 Arg19Gly R19G not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DNAH2 Ser883Leu S883L not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - 6 Y 1 N - - DNAH2 Arg1417His R1417H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - PER1 ArgAla568GlnSer RA568QS not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C17ORF68 Gly679Asp G679D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10032 9.9681e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF287 Thr738Ile T738I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 3 - 2 N - - SLC47A2 Pro162Leu P162L not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KIAA0100 Val288Met V288M not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.221 - - 0 - 1 N - - SSH2 Glu545Lys E545K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - EFCAB5 Asp176Glu D176E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.903 - - -2 - 2 N - - NLE1 Thr125Met T125M not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.963 - - 2 - 2 N - - SLFN5 Cys495Arg C495R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.975 - - 8 Y 2 N - - SLFN5 Val754Leu V754L not reviewed Insufficiently evaluated not reviewed unknown Array rs16970806 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - GAS2L2 His550Arg H550R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 1 - 2 N - - GPR179 Lys1227Arg K1227R not reviewed Insufficiently evaluated not reviewed unknown Array 136 9852 0.0138043 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - ERBB2 Glu79Ala E79A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737968 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - GRB7 Pro362Leu P362L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10756 0.00427668 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - GRB7 Thr419Lys T419K not reviewed Insufficiently evaluated not reviewed unknown Array 45 10756 0.00418371 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - KRT33A Glu78Lys E78K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRT9 Ala141Ser A141S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - HAP1 Asp265Asn D265N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -1 - 1 N - - NBR1 Val182Leu V182L not reviewed Insufficiently evaluated not reviewed unknown Array 10 9592 0.00104253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IGF2BP1 His265Gln H265Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61751193 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - ACSF2 Ala204Pro A204P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - BZRAP1 Arg526Cys R526C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SMARCD2 Asn429Lys N429K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF19 Arg219His R219H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KIF19 Glu770Asp E770D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10182 0.00137497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - LLGL2 Pro639Ser P639S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10734 0.00829141 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 3 - 2 N - - ST6GALNAC1 Ala238Asp A238D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 1 N - - CCDC40 Arg870Cys R870C not reviewed Insufficiently evaluated not reviewed unknown Array rs61749025 66 10386 0.00635471 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - AZI1 Pro420Ser P420S not reviewed Insufficiently evaluated not reviewed unknown Array 63 10684 0.00589667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF70 Ala223Ser A223S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10744 0.00260611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FASN Thr2083Pro T2083P not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CLUL1 Asp344Gly D344G not reviewed Insufficiently evaluated not reviewed unknown Array 69 10014 0.00689035 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.974 - - 4 Y 2 N - - SMCHD1 Thr1603Ile T1603I not reviewed Insufficiently evaluated not reviewed unknown Array 25 9466 0.00264103 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - AK095347 Leu30Trp L30W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LAMA1 Ala2163Thr A2163T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMA1 Pro1304Ala P1304A not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.183 - - 2 - 0 N - - LAMA1 Asp594Asn D594N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - -1 - 2 N - - KIAA0802 Ile1450Val I1450V not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DSC1 Ala209Glu A209E not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSC1 Ile200Thr I200T not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSG1 Met665Ile M665I not reviewed Insufficiently evaluated not reviewed unknown Array rs35360042 185 10758 0.0171965 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.254 - - -1 - 1 N - - LOXHD1 Arg65His R65H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LIPG Pro467Ser P467S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - CDH20 Pro391Ala P391A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CR749350 Ser370Pro S370P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CNDP1 Met273Val M273V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.954 - - 0 - 2 N - - ZADH2 Ser317Asn S317N not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARID3A Ala404Val A404V not reviewed Insufficiently evaluated not reviewed unknown Array 144 10752 0.0133929 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - APC2 Arg1456Pro R1456P not reviewed Insufficiently evaluated not reviewed unknown Array 59 4698 0.0125585 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.413 - - 5 Y 1 N - - ZFR2 Arg933Gln R933Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 9000 0.004 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN4 Thr757Met T757M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 2 - 0 N - - PRR22 Pro186His P186H not reviewed Insufficiently evaluated not reviewed unknown Array 4 106 0.0377358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - DENND1C Lys671Glu K671E not reviewed Insufficiently evaluated not reviewed unknown Array rs35173535 232 9876 0.0234913 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PEX11G Pro161Arg P161R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10754 0.00158081 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 5 Y 0 N - - FBN3 Pro238Leu P238L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBN3 Val59Met V59M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10718 0.00139951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYO1F Ala839Asn A839N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF560 Tyr46Phe Y46F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -4 - 0 N - - ZNF426 Thr219Ala T219A not reviewed Insufficiently evaluated not reviewed unknown Array rs10420644 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.339 - - 1 - 1 N - - NM_001013640 Thr63Pro T63P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.861 - - 4 Y 2 N - - ICAM5 Pro332Arg P332R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAVER1 Pro2Thr P2T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRKCSH Lys59Arg K59R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -3 - 1 N - - ZNF439 Ala450Val A450V not reviewed Insufficiently evaluated not reviewed unknown Array 224 10758 0.0208217 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747991 Ser58Cys S58C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPHX3 Ala353Val A353V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 2 - 0 N - - CPAMD8 Arg105Met R105M not reviewed Insufficiently evaluated not reviewed unknown Array 17 9900 0.00171717 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - 4 Y 2 N - - B3GNT3 Arg285His R285H not reviewed Insufficiently evaluated not reviewed unknown Array 193 10758 0.0179401 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INSL3 Arg72Lys R72K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - -3 - 1 N - - PDE4C Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 72 10524 0.0068415 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 1 - 0 N - - ZNF257 Cys55Ser C55S not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF257 Val249Ile V249I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF257 Arg253Lys R253K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLEKHF1 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10706 9.3405e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.674 - - 1 - 1 N - - GPATCH1 Gly784Glu G784E not reviewed Insufficiently evaluated not reviewed unknown Array rs34890536 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PEPD Gly481Val G481V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10386 0.000481417 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.032 - - 8 Y 0 N - - ZNF30 Arg58His R58H not reviewed Insufficiently evaluated not reviewed unknown Array 10 9892 0.00101092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LSR Pro422Ser P422S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 3 - 0 N - - HAUS5 Arg413Cys R413C not reviewed Insufficiently evaluated not reviewed unknown Array 8 9946 0.000804343 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - C19ORF55 Glu66Asp E66D not reviewed Insufficiently evaluated not reviewed unknown Array 3 9888 0.000303398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FCGBP Pro795Leu P795L not reviewed Insufficiently evaluated not reviewed unknown Array 170 10302 0.0165017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - CYP2A6 Met6Leu M6L not reviewed Insufficiently evaluated not reviewed unknown Array rs72549432 49 10756 0.0045556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF404 Cys186Arg C186R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10242 0.00888498 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF226 Ser572Leu S572L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10444 0.0080429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - PVRL2 Arg286His R286H not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.173 - - 1 - 0 N - - PVRL2 Glu401Gln E401Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1966960 54 10726 0.0050345 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 1 N - - ZNF296 Asp39Glu D39E not reviewed Insufficiently evaluated not reviewed unknown Array 86 10534 0.00816404 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -2 - 2 N - - MARK4 Ser2Phe S2F not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZC3H4 Ser816Asn S816N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 0 - 1 N - - GRWD1 Val353Met V353M not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHA4 Val632Leu V632L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGRT Arg28Trp R28W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MED25 Pro201Leu P201L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.775 - - 7 Y 1 N - - SIGLEC10 Leu362Phe L362F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SIGLEC8 Ser167Ala S167A not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - CEACAM18 Asn199Lys N199K not reviewed Insufficiently evaluated not reviewed unknown Array 97 9992 0.00970777 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FPR1 Arg269His R269H not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF577 Thr200Ser T200S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF615 Gln615Glu Q615E not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - ZNF611 Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - VN1R2 Ala329Thr A329T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - ZNF813 Leu376Arg L376R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 6 Y 1 N - - LILRB1 Ile4Met I4M not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - LILRB1 Arg107Trp R107W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRB1 Ser110Pro S110P not reviewed Insufficiently evaluated not reviewed unknown Array rs10418552 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LILRB1 Ile318Met I318M not reviewed Insufficiently evaluated not reviewed unknown Array 259 10634 0.0243558 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - TMEM86B Gln78Arg Q78R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.632 - - 0 - 1 N - - UBE2S Arg169Gln R169Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.473 - - 0 - 1 N - - ZSCAN5B Ser256Thr S256T not reviewed Insufficiently evaluated not reviewed unknown Array rs892183 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF587 Ser530Ala S530A not reviewed Insufficiently evaluated not reviewed unknown Array rs61735220 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - ZBTB45 Val93Ile V93I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - MZF1 Arg441Pro R441P not reviewed Insufficiently evaluated not reviewed unknown Array rs2229255 95 10578 0.0089809 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APOB Tyr103His Y103H not reviewed Insufficiently evaluated not reviewed unknown Array rs9282603 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DNMT3A Thr44Met T44M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - C2ORF16 Lys1788Arg K1788R not reviewed Insufficiently evaluated not reviewed unknown Array 30 9826 0.00305312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PLB1 Thr811Met T811M not reviewed Insufficiently evaluated not reviewed unknown Array rs61755881 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 2 - 2 N - - CAPN13 Phe438Leu F438L not reviewed Insufficiently evaluated not reviewed unknown Array 18 9638 0.00186761 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLRC4 Trp624Arg W624R not reviewed Insufficiently evaluated not reviewed unknown Array rs61741169 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFP36L2 Ser302Pro S302P not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VRK2 Asn50Asp N50D not reviewed Insufficiently evaluated not reviewed unknown Array rs34130684 41 10756 0.00381183 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - CLEC4F Leu516Pro L516P not reviewed Insufficiently evaluated not reviewed unknown Array rs34875126 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CLEC4F Val498Met V498M not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.702 - - 0 - 1 N - - MPHOSPH10 Ile240Thr I240T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10756 0.00715879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.167 - - 3 - 0 N - - C2ORF3 Asp101Asn D101N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TGOLN2 Asp219His D219H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - RETSAT Gln98Lys Q98K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -2 - 2 N - - POLR1A Ser396Asn S396N not reviewed Insufficiently evaluated not reviewed unknown Array rs35443467 57 9820 0.00580448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1310 Met366Thr M366T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10262 0.00107192 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 2 - 2 N - - MGAT4A Ile508Val I508V not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - IL1RL1 Met352Ile M352I not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - NT5DC4 Lys31Glu K31E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 0 - 2 N - - DDX18 Met73Lys M73K not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 4 Y 0 N - - CCDC93 Ile286Thr I286T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 3 - 2 N - - GTDC1 Val127Phe V127F not reviewed Insufficiently evaluated not reviewed unknown Array 44 10756 0.00409074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - PLA2R1 Pro177Ser P177S not reviewed Insufficiently evaluated not reviewed unknown Array rs13394676 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - COBLL1 Leu502Phe L502F not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NFE2L2 Arg43Gln R43Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35248500 39 9572 0.00407438 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - NM_207482 Lys85Glu K85E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - SGOL2 Glu343Ala E343A not reviewed Insufficiently evaluated not reviewed unknown Array rs13417812 117 9672 0.0120968 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.759 - - 3 - 1 N - - SGOL2 His1025Pro H1025P not reviewed Insufficiently evaluated not reviewed unknown Array 56 9494 0.00589846 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - ALS2CR11 Glu370Ala E370A not reviewed Insufficiently evaluated not reviewed unknown Array 51 10730 0.00475303 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 3 - 1 N - - FASTKD2 Ala698Val A698V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 2 - 1 N - - CCDC108 Gln1251His Q1251H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - EPHA4 Asn899Lys N899K not reviewed Insufficiently evaluated not reviewed unknown Array rs61731200 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 1 - 0 N - - HTR2B Val208Leu V208L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731725 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNJ13 Ser331Pro S331P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 3 - 2 N - - USP40 Tyr1041Cys Y1041C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR6B3 Gly10Ser G10S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SNED1 Arg1168Trp R1168W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - HDLBP Glu251Asp E251D not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.005 - - -2 - 0 N - - DTYMK Pro206Leu P206L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.556 - - 7 Y 1 N - - ATRN Val1226Ile V1226I not reviewed Insufficiently evaluated not reviewed unknown Array rs12329487 104 10758 0.00966722 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.015 - - -4 - 0 N - - KIF16B Thr33Met T33M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - RRBP1 Val118Ile V118I not reviewed Insufficiently evaluated not reviewed unknown Array rs34755632 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C20ORF26 Leu1045Ile L1045I not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAX1 Pro413Leu P413L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C20ORF144 Trp118Arg W118R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF341 Arg379Gln R379Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2747553 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM83C Phe164Leu F164L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - C20ORF152 Thr208Met T208M not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM83D Pro54Ser P54S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - L3MBTL1 Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10726 0.000652619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYS1 Thr60Ser T60S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - TP53TG5 Lys6Asn K6N not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 1 - 2 N - - RNF114 Asn218Ile N218I not reviewed Insufficiently evaluated not reviewed unknown Array rs34356460 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 7 Y 2 N - - TSHZ2 Thr913Ile T913I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - AURKA Pro50Leu P50L not reviewed Insufficiently evaluated not reviewed unknown Array rs34572020 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - APCDD1L Cys30His C30H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LAMA5 Arg2953Cys R2953C not reviewed Insufficiently evaluated not reviewed unknown Array 95 10640 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - C20ORF151 Asn115Lys N115K not reviewed Insufficiently evaluated not reviewed unknown Array 179 10748 0.0166543 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ADAMTS5 Leu244Phe L244F not reviewed Insufficiently evaluated not reviewed unknown Array 192 10520 0.0182509 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP19-6 Ser47Leu S47L not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SETD4 Cys17Ser C17S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DOPEY2 Arg837Cys R837C not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRTAP10-12 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array 105 10668 0.00984252 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 8 Y 0 N - - ZNF280A Leu276Phe L276F not reviewed Insufficiently evaluated not reviewed unknown Array rs16989015 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - BC040190 Gln31His Q31H not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CABIN1 Pro874Ser P874S not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CABIN1 Gln1990Glu Q1990E not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - -2 - 1 N - - GAS2L1 Gly465Asp G465D not reviewed Insufficiently evaluated not reviewed unknown Array 71 9156 0.00775448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ASCC2 Glu104Lys E104K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - GAL3ST1 Glu71Asp E71D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TCN2 Leu30Arg L30R not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - TCN2 Val175Met V175M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PISD Thr274Met T274M not reviewed Insufficiently evaluated not reviewed unknown Array rs34736247 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HMGXB4 Ala369Thr A369T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APOL2 Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10330 0.000484027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - APOL2 Leu52Phe L52F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10644 0.000469748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FOXRED2 Val420Ile V420I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FOXRED2 Arg221His R221H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 1 - 0 N - - C1QTNF6 Ala24Thr A24T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001012986 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array rs59866166 43 10090 0.00426165 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTLL8 Ala616Glu A616E not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTLL8 Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TUBGCP6 Pro1441Leu P1441L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10372 0.000964134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 7 Y 1 N - - TUBGCP6 Gln1395His Q1395H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - -1 - 1 N - - TUBGCP6 Ala998Thr A998T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - CNTN6 Ile372Val I372V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10752 0.000744047 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IL17RE Gln222Leu Q222L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 5 Y 2 N - - FGD5 Arg698Trp R698W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC035826 Met105Ile M105I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RARB Gln139Arg Q139R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZCWPW2 Ile331Met I331M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10748 0.00232601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - PDCD6IP Thr741Ala T741A not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - GORASP1 Ser263Cys S263C not reviewed Insufficiently evaluated not reviewed unknown Array 49 10756 0.0045556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - BX648094 Met289Val M289V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF167 Ser73Ile S73I not reviewed Insufficiently evaluated not reviewed unknown Array rs35999747 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - KIF15 Cys162Ser C162S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - FYCO1 Val160Leu V160L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 0 - 2 N - - SETD2 Cys1030Arg C1030R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABHD14B Ala186Val A186V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - DNAH1 Glu2791Gly E2791G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STAB1 Ser1027Pro S1027P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFMBT1 Ala327Ser A327S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -1 - 0 N - - CCDC66 Gln189Arg Q189R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC66 Met248Val M248V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH12 Thr231Ala T231A not reviewed Insufficiently evaluated not reviewed unknown Array rs7629743 191 10752 0.0177641 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM107A Arg75Trp R75W not reviewed Insufficiently evaluated not reviewed unknown Array rs11539082 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - LMOD3 Arg498Gln R498Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10108 0.00524337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - SHQ1 Glu541Lys E541K not reviewed Insufficiently evaluated not reviewed unknown Array rs34031957 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - GPR128 Arg411Cys R411C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.482 - - 8 Y 1 N - - GPR128 Arg756His R756H not reviewed Insufficiently evaluated not reviewed unknown Array rs9872512 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 1 - 0 N - - KIAA1524 Glu854Gln E854Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - C3ORF52 Glu185Lys E185K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10010 0.0008991 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR52 Met820Val M820V not reviewed Insufficiently evaluated not reviewed unknown Array 257 10756 0.0238936 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KIAA2018 Thr686Ile T686I not reviewed Insufficiently evaluated not reviewed unknown Array 8 9660 0.000828157 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 3 - 1 N - - C3ORF15 Gln370His Q370H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744328 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC37 Ala198Gly A198G not reviewed Insufficiently evaluated not reviewed unknown Array rs4679242 205 10738 0.0190911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 1 - 1 N - - C3ORF46 Ile92Phe I92F not reviewed Insufficiently evaluated not reviewed unknown Array rs73859574 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLXNA1 Arg422Leu R422L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EEFSEC Pro386Ser P386S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL6A5 Val1864Met V1864M not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - COL6A6 Ala958Thr A958T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10018 9.982e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 1 - 0 N - - ATP2C1 Phe383Tyr F383Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - RYK Val319Met V319M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM22 Met61Arg M61R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC9A9 Ala510Val A510V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NMD3 Lys412Asn K412N not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - SI Tyr1153Phe Y1153F not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SERPINI2 Glu309Lys E309K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - CHRD Pro118Gln P118Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - CHRD His120Asn H120N not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - MUC20 Val352Ala V352A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10352 0.00144899 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Thr332Ile T332I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10132 0.00276352 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FYTTD1 Val317Met V317M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIGG His686Gln H686Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - MYL5 Arg15Trp R15W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746930 33 9890 0.0033367 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - GAK Cys975Tyr C975Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 6 Y 1 N - - TACC3 Thr66Met T66M not reviewed Insufficiently evaluated not reviewed unknown Array rs34708887 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - ZFYVE28 Ala445Val A445V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732926 113 10600 0.0106604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM193A Arg923Gln R923Q not reviewed Insufficiently evaluated not reviewed unknown Array rs10010434 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - MFSD10 Val347Met V347M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10540 9.4876e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.15 - - 0 - 0 N - - EVC2 Thr400Ala T400A not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.94 Y - 1 - 3 N - - PROM1 His584Arg H584R not reviewed Insufficiently evaluated not reviewed unknown Array 67 9794 0.00684092 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.566 Y - 1 - 2 N - - AK308144 Glu853Gly E853G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - SLIT2 Ser459Cys S459C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 3 - 2 N - - KLHL5 Asp145Gly D145G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - RFC1 Lys346Arg K346R not reviewed Insufficiently evaluated not reviewed unknown Array 61 10754 0.00567231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KLB Asp339Asn D339N not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - PDCL2 Met217Ile M217I not reviewed Insufficiently evaluated not reviewed unknown Array 67 9588 0.0069879 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UGT2B11 Arg352Gln R352Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 0 - 0 N - - UGT2A1 Pro67Gln P67Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - CCNG2 Glu28Gly E28G not reviewed Insufficiently evaluated not reviewed unknown Array rs4150051 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - BMP3 Arg74Gly R74G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729824 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.641 - - 6 Y 1 N - - PPM1K Glu321Lys E321K not reviewed Insufficiently evaluated not reviewed unknown Array rs35523553 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 0 - 0 N - - HERC6 Ala814Asp A814D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HERC6 Ser989Tyr S989Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61740296 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TBCK Ile753Val I753V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CASP6 Thr182Ser T182S not reviewed Insufficiently evaluated not reviewed unknown Array rs5030593 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANK2 Cys3687Ser C3687S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - MAML3 Pro678Ala P678A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10710 0.00121382 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRBA Asn1677Ser N1677S not reviewed Insufficiently evaluated not reviewed unknown Array rs17027133 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRBA Val1292Ile V1292I not reviewed Insufficiently evaluated not reviewed unknown Array rs34678304 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SH3D19 Glu238Lys E238K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TLR2 Ile91Val I91V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - MAP9 Ile424Val I424V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - -4 - 0 N - - CTSO Arg94Ser R94S not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.304 - - 3 - 1 N - - TRIM60 Glu209Val E209V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10754 0.00362656 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - CEP72 Glu567Lys E567K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - IRX4 Gly143Ser G143S not reviewed Insufficiently evaluated not reviewed unknown Array rs1689721 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TTC23L Glu28Lys E28K not reviewed Insufficiently evaluated not reviewed unknown Array 47 9884 0.00475516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP155 Ser15Phe S15F not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 5 Y 0 N - - CARD6 Arg93Lys R93K not reviewed Insufficiently evaluated not reviewed unknown Array rs7715491 74 10758 0.0068786 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CARD6 Cys185Tyr C185Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61748216 77 10758 0.00715746 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CARD6 Gly264Glu G264E not reviewed Insufficiently evaluated not reviewed unknown Array rs61757657 76 10756 0.00706582 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HEATR7B2 Thr697Asn T697N not reviewed Insufficiently evaluated not reviewed unknown Array 42 9572 0.0043878 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 1 - 0 N - - BC039102 Arg251His R251H not reviewed Insufficiently evaluated not reviewed unknown Array rs6879044 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - C5ORF34 Gln495Lys Q495K not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FGF10 Val33Ile V33I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - ACTBL2 Arg148Trp R148W not reviewed Insufficiently evaluated not reviewed unknown Array rs61737335 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - DIMT1L Ala241Thr A241T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF180 Tyr278Cys Y278C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAST4 Gly49Glu G49E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAST4 Gly2102Asp G2102D not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC125 Lys300Asn K300N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - TNPO1 Asp359Gly D359G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001080479 Asn963Asp N963D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - NM_001080479 Asn1178Ser N1178S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9998 0.00030006 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - JMY Asp84Asn D84N not reviewed Insufficiently evaluated not reviewed unknown Array rs35345418 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ERAP2 Met709Thr M709T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 2 - 0 N - - TMEM232 Ile481Val I481V not reviewed Insufficiently evaluated not reviewed unknown Array rs1488596 28 3234 0.00865801 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC25A46 Ile248Leu I248L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10754 0.00185977 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - YTHDC2 Leu81Ile L81I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10756 0.00102268 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IL13 Arg119Gln R119Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM173 Gln327Lys Q327K not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - -2 - 2 N - - PCDHB4 Ala447His A447H not reviewed Insufficiently evaluated not reviewed unknown Array rs61730243 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHB7 Gly721Ser G721S not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - PCDHB16 Asp91Glu D91E not reviewed Insufficiently evaluated not reviewed unknown Array rs17096969 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -2 - 2 N - - PCDHB14 Phe282Leu F282L not reviewed Insufficiently evaluated not reviewed unknown Array rs61978584 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - PCDHB18 Gly8Val G8V not reviewed Insufficiently evaluated not reviewed unknown Array rs61738060 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 8 Y 0 N - - PCDHGB8P Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC36A1 Arg379His R379H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - SLIT3 Ala1174Thr A1174T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - F12 Val39Ile V39I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10244 0.00263569 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.655 Y - -4 - 2 N - - ZFP62 Ala76Gly A76G not reviewed Insufficiently evaluated not reviewed unknown Array 18 3234 0.00556586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXQ1 Val387Gly V387G not reviewed Insufficiently evaluated not reviewed unknown Array 16 2266 0.0070609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - DQ577059 Arg340Gly R340G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ELOVL2 Val225Met V225M not reviewed Insufficiently evaluated not reviewed unknown Array rs6919726 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.725 - - 0 - 1 N - - HIVEP1 Ile542Thr I542T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10118 0.000296501 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KAAG1 His61Arg H61R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10708 0.000186776 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0319 Ser703Asn S703N not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - OR14J1 Val278Met V278M not reviewed Insufficiently evaluated not reviewed unknown Array rs17404424 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - ZFP57 Pro367Ser P367S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNXB Glu999Lys E999K not reviewed Insufficiently evaluated not reviewed unknown Array 2 6726 0.000297353 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - KIFC1 Arg5Ser R5S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.876 - - 3 - 2 N - - KCNK16 Leu172Val L172V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745897 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRERF1 Arg98Cys R98C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.65 - - 8 Y 1 N - - MRPL2 Met157Thr M157T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - COL21A1 Glu753Val E753V not reviewed Insufficiently evaluated not reviewed unknown Array 125 9586 0.0130398 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - DST Asp845Glu D845E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GJB7 Glu50Asp E50D not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - C6ORF162 Gln21Lys Q21K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF165 Arg239Cys R239C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MDN1 Glu811Ala E811A not reviewed Insufficiently evaluated not reviewed unknown Array 187 10754 0.0173889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - KIAA0776 Leu665Val L665V not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 0 - 0 N - - AK094715 His75Pro H75P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - TAAR8 Gly149Val G149V not reviewed Insufficiently evaluated not reviewed unknown Array rs61744654 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - TIAM2 Asp1519Glu D1519E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -2 - 2 N - - TIAM2 Lys1643Glu K1643E not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - ARID1B Pro736Ser P736S not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYNJ2 Thr1060Asn T1060N not reviewed Insufficiently evaluated not reviewed unknown Array rs61745222 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - SYNJ2 Arg1079Gln R1079Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61747264 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SERAC1 Ile30Thr I30T not reviewed Insufficiently evaluated not reviewed unknown Array rs34270473 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 3 - 0 N - - RSPH3 Arg223Gln R223Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41267751 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - SLC22A1 Val400Met V400M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - GPR31 Ile152Met I152M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -1 - 0 N - - GPR31 Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMOC2 Lys169Arg K169R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 2 N - - EIF3B Asn131Ser N131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQCE Arg392His R392H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10212 0.00616921 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - USP42 Lys445Arg K445R not reviewed Insufficiently evaluated not reviewed unknown Array 46 9916 0.00463897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZDHHC4 Thr202Met T202M not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - C7ORF26 Ala428Val A428V not reviewed Insufficiently evaluated not reviewed unknown Array 13 9688 0.00134187 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DGKB Gly789Ser G789S not reviewed Insufficiently evaluated not reviewed unknown Array rs34616903 238 9526 0.0249843 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM195 Asp9Val D9V not reviewed Insufficiently evaluated not reviewed unknown Array rs61751889 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - PRPS1L1 Arg243Gly R243G not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - AOAH Val366Ile V366I not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -4 - 2 N - - NPC1L1 Pro974Ser P974S not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCA13 Leu3152Pro L3152P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746636 Arg93Trp R93W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF107 Cys274Gly C274G not reviewed Insufficiently evaluated not reviewed unknown Array rs10266866 24 10750 0.00223256 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF117 Gly364Glu G364E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TYW1B His15Arg H15R not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF804B Leu390Met L390M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF804B Ser393Arg S393R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP9 Thr295Ala T295A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMD9 Arg1473Cys R1473C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - BHLHA15 His183Tyr H183Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10316 0.000387747 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - -1 - 2 N - - PCOLCE Gly409Asp G409D not reviewed Insufficiently evaluated not reviewed unknown Array rs35142716 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.661 - - 4 Y 1 N - - MUC17 Thr3284Ile T3284I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RINT1 Tyr726His Y726H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.864 - - -1 - 2 N - - CDHR3 Ser815Asn S815N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10132 0.000394788 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 0 - 0 N - - LAMB1 Val705Leu V705L not reviewed Insufficiently evaluated not reviewed unknown Array rs34150332 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.478 - - 0 - 1 N - - CAV1 Lys86Arg K86R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -3 - 0 N - - PTPRZ1 Glu430Lys E430K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FAM71F1 Lys172Del K172Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CHCHD3 Ala84Val A84V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1549 Ile968Leu I968L not reviewed Insufficiently evaluated not reviewed unknown Array 42 9690 0.00433437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR9A2 Ile29Val I29V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACTR3B Arg184Cys R184C not reviewed Insufficiently evaluated not reviewed unknown Array 108 3234 0.0333952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDK5 Tyr285Asp Y285D not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ASB10 Ala75Glu A75E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - WDR60 Glu184Gln E184Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ERICH1 Thr32Met T32M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - AB209502 Arg2121Lys R2121K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AB209502 Ser201Ala S201A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CLDN23 Gly195Arg G195R not reviewed Insufficiently evaluated not reviewed unknown Array 11 9294 0.00118356 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - C8ORF74 Gln126Arg Q126R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10364 0.000482439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSD3 Asp224Glu D224E not reviewed Insufficiently evaluated not reviewed unknown Array 26 9760 0.00266393 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - REEP4 Asp195Asn D195N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.339 - - -1 - 1 N - - LOXL2 Ala619Val A619V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.418 - - 2 - 1 N - - SCARA3 Arg450His R450H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - SCARA5 Ala131Val A131V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737292 249 10732 0.0232016 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - TMEM66 ProAla27LeuPro PA27LP not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAB11FIP1 Ala1124Thr A1124T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - RAB11FIP1 Pro707Leu P707L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - ADAM18 Glu723Gly E723G not reviewed Insufficiently evaluated not reviewed unknown Array 304 10744 0.0282949 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.351 - - 6 Y 1 N - - KIAA0146 Asp112His D112H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - ST18 Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LYPLA1 Ile114Met I114M not reviewed Insufficiently evaluated not reviewed unknown Array 172 10748 0.016003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CYP7A1 His86Asn H86N not reviewed Insufficiently evaluated not reviewed unknown Array rs62621283 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - PDE7A Asp63Gly D63G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIM55 Ser395Leu S395L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 6 Y 1 N - - RRS1 Asp296Asn D296N not reviewed Insufficiently evaluated not reviewed unknown Array 103 10756 0.00957605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -1 - 2 N - - SULF1 Arg597Gly R597G not reviewed Insufficiently evaluated not reviewed unknown Array rs61747130 270 10758 0.0250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK123744 Lys259Asn K259N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF704 Ala170Val A170V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10658 0.000656783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - NM_016134 Ser421Gly S421G not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 2 - 0 N - - UBR5 Gly2482Ser G2482S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NUDCD1 Ile362Thr I362T not reviewed Insufficiently evaluated not reviewed unknown Array rs34568071 56 10758 0.00520543 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSMD3 Ala3588Thr A3588T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - TRIB1 Glu360Asp E360D not reviewed Insufficiently evaluated not reviewed unknown Array rs16900603 316 10758 0.0293735 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - EFR3A Ile625Val I625V not reviewed Insufficiently evaluated not reviewed unknown Array 68 10740 0.00633147 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.846 - - -4 - 1 N - - TMEM71 Asp204Tyr D204Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34962342 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PHF20L1 His581Tyr H581Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 9262 0.000215936 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TG Arg1328His R1328H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - BAI1 Val830Met V830M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9982 0.00010018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHPN1 Ala536Thr A536T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10094 0.00108976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GSDMD Arg249His R249H not reviewed Insufficiently evaluated not reviewed unknown Array 47 10716 0.00438596 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - MAPK15 Arg323Gln R323Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62639971 95 10092 0.0094134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - TONSL Ala734Thr A734T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TONSL Arg716Pro R716P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF34 Pro114Ala P114A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9580 0.00052192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KANK1 Ser198Phe S198F not reviewed Insufficiently evaluated not reviewed unknown Array 263 10758 0.0244469 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - IL33 Ile263Met I263M not reviewed Insufficiently evaluated not reviewed unknown Array rs16924241 111 10756 0.0103198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.393 - - -1 - 1 N - - MPDZ Ile272Val I272V not reviewed Insufficiently evaluated not reviewed unknown Array 40 9824 0.00407166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MPDZ His177Tyr H177Y not reviewed Insufficiently evaluated not reviewed unknown Array 41 9664 0.00424255 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MPDZ Phe93Cys F93C not reviewed Insufficiently evaluated not reviewed unknown Array 40 9612 0.00416146 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HAUS6 Gln324Arg Q324R not reviewed Insufficiently evaluated not reviewed unknown Array 52 10750 0.00483721 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - IFNB1 Ile166Met I166M not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -1 - 2 N - - C9ORF11 Phe3Tyr F3Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA1161 Leu2Pro L2P not reviewed Insufficiently evaluated not reviewed unknown Array 2 9858 0.00020288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF144 Gly94Ser G94S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ALDH1B1 Asn106Lys N106K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLF9 His27Tyr H27Y not reviewed Insufficiently evaluated not reviewed unknown Array 14 10750 0.00130233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - -1 - 1 N - - VPS13A Val898Ala V898A not reviewed Insufficiently evaluated not reviewed unknown Array 246 10756 0.022871 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y 2 - 1 N - - C9ORF47 Met9Ile M9I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NOL8 Lys165Arg K165R not reviewed Insufficiently evaluated not reviewed unknown Array rs41305617 186 9638 0.0192986 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.98 - - -3 - 2 N - - SMC2 Gln970Arg Q970R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PALM2-AKAP2 Asp665Glu D665E not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBTB6 Pro238Ala P238A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - SLC2A8 Val375Met V375M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 0 - 0 N - - COQ4 Arg86Thr R86T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - SH3GLB2 Met308Ile M308I not reviewed Insufficiently evaluated not reviewed unknown Array rs1140159 101 10692 0.00944631 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - DDX31 Ser779Asn S779N not reviewed Insufficiently evaluated not reviewed unknown Array rs35447016 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.746 - - 0 - 1 N - - ABO Tyr308Cys Y308C not reviewed Insufficiently evaluated not reviewed unknown Array rs56346931 32 10430 0.00306807 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADAMTS13 Arg625His R625H not reviewed Insufficiently evaluated not reviewed unknown Array rs36090624 293 10758 0.0272355 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 1 - 3 N - - ADAMTS13 Val832Met V832M not reviewed Insufficiently evaluated not reviewed unknown Array rs34104386 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y - 0 - 1 N - - CR592591 Gly133Val G133V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAN1B1 Thr53Met T53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10564 9.4661e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 2 N - - TPRN Ala74Ser A74S not reviewed Insufficiently evaluated not reviewed unknown Array 3 126 0.0238095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NOXA1 Arg473His R473H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10736 0.00363264 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TCEANC Asn355Lys N355K not reviewed Insufficiently evaluated not reviewed unknown Array 53 7940 0.00667506 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACOT9 Glu72Gly E72G not reviewed Insufficiently evaluated not reviewed unknown Array rs35412966 28 8761 0.00319598 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SMEK3P Glu211Asp E211D not reviewed Insufficiently evaluated not reviewed unknown Array rs5971193 2 92 0.0217391 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.452 - - -2 - 1 N - - LHFPL1 Tyr210Ser Y210S not reviewed Insufficiently evaluated not reviewed unknown Array 52 8761 0.0059354 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - KIAA1210 Asp864Glu D864E not reviewed Insufficiently evaluated not reviewed unknown Array rs1869803 81 7900 0.0102532 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CXORF64 Gly94Arg G94R not reviewed Insufficiently evaluated not reviewed unknown Array 21 2482 0.00846092 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPANXC Glu20Asp E20D not reviewed Insufficiently evaluated not reviewed unknown Array 123 8626 0.0142592 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.976 - - -2 - 2 N - - GAB3 Arg514Gln R514Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - H6PD Arg222Cys R222C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 Y Y 8 Y 4 N - - UROD Arg148Cys R148C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y - 8 Y 3 N - - C1ORF223 Leu147Shift L147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDCP2 Ala325Shift A325Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GBP3 Gln212Stop Q212X not reviewed Insufficiently evaluated not reviewed unknown Array 11 10692 0.00102881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC25A24 Ala302Shift A302Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ECM1 Asn404Shift N404Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Ser3640Ala S3640A not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.967 Y Y -1 - 4 N - - HAX1 Pro198Leu P198L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y - 7 Y 3 N - - OR10K1 Ser313Shift S313Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP1A2 Val661Shift V661Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CFHR4 Ala371Shift A371Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASPM Arg2690Trp R2690W not reviewed Insufficiently evaluated not reviewed unknown Array rs41302133 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - LAMB3 Arg1042Trp R1042W not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 7 Y 4 N - - PTCHD3 Gln248Stop Q248X not reviewed Insufficiently evaluated not reviewed unknown Array rs61736847 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP2C9 Val323Shift V323Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCC2 Glu186Gly E186G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 6 Y 1 N - - TH Asp498Asn D498N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.483 Y Y -1 - 3 N - - ZNF408 Glu198Shift E198Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72461400 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR4C46 Thr46Shift T46Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDC42BPG Gly1062Shift G1062Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FZD4 Arg35Gly R35G not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ROBO4 Gln610Shift Q610Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C12ORF77 Tyr92Stop Y92X not reviewed Insufficiently evaluated not reviewed unknown Array 73 9988 0.00730877 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT73 Thr231Shift T231Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT77 Ile403Shift I403Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMTC2 Leu398Shift L398Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TBX5 Arg279Gln R279Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.021 Y Y 0 - 2 N - - SACS Thr1662Met T1662M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.454 Y Y 2 - 3 N - - SUGT1 Glu89Shift E89Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 His932Gln H932Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - OR10G3 Val135Shift V135Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCM Thr77Ala T77A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746895 226 10758 0.0210076 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - FANCM Thr793Ala T793A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - MAP4K5 Thr273Shift T273Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MNS1 Glu281Stop E281X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HCN4 Pro1061Arg P1061R not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.988 Y - 5 Y 3 N - - CYP1A1 Arg477Trp R477W not reviewed Insufficiently evaluated not reviewed unknown Array rs56240201 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 Y - 7 Y 3 N - - MTHFS Arg148Shift R148Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BNC1 Arg356Shift R356Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK128777 Arg228Shift R228Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK128777 Tyr285Shift Y285Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WFIKKN1 Arg254Shift R254Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCNN1B Leu628Gln L628Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72654356 15 10592 0.00141616 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.143 Y - 5 Y 1 N - - MMP2 Gly601Val G601V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.1 Y - 8 Y 1 N - - FANCA His1417Asp H1417D not reviewed Insufficiently evaluated not reviewed unknown Array rs17227403 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y 3 - 4 N - - CRK Ile61Shift I61Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYH3 Arg1130Cys R1130C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 8 Y 3 N - - AMAC1 Thr179Shift T179Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MED13 Leu1184Shift L1184Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN4A Gly526Arg G526R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10526 0.000665019 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - C17ORF60 Tyr208Stop Y208X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCA10 Arg577Stop R577X not reviewed Insufficiently evaluated not reviewed unknown Array 172 10758 0.0159881 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CELF5 Ile293Shift I293Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HSH2D His99Shift H99Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DMPK Gly380Arg G380R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ZNF418 Gln68Stop Q68X not reviewed Insufficiently evaluated not reviewed unknown Array 16 10746 0.00148893 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ALMS1 Pro1933Ser P1933S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NR_003947 Gln147Shift Q147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MCM6 Arg207Cys R207C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 8 Y 3 N - - ZEB2 Ile744Val I744V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y -4 - 2 N - - TTN Asp31458Asn D31458N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Val28269Ala V28269A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Ile6810Leu I6810L not reviewed Insufficiently evaluated not reviewed unknown Array rs72648976 81 10194 0.00794585 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ASNSD1 Ser219Shift S219Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL6A3 Arg677His R677H not reviewed Insufficiently evaluated not reviewed unknown Array rs35227432 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - XRCC6 Ala255Shift A255Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MLC1 Val201Ile V201I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y -4 - 2 N - - FANCD2 Gln65His Q65H not reviewed Insufficiently evaluated not reviewed unknown Array rs36084488 81 10744 0.00753909 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.992 Y Y -1 - 4 N - - HDAC11 Met298Shift M298Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEP70 Asn453Shift N453Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALG3 Asp322Val D322V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.929 Y Y 8 Y 4 N - - DOK7 Arg261Cys R261C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10752 0.000279017 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y 8 Y 4 N - - NAP1L5 Tyr109Shift Y109Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGXT2L1 Phe366Shift F366Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OXCT1 Ser16Phe S16F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - VCAN Tyr1917Phe Y1917F not reviewed Insufficiently evaluated not reviewed unknown Array 19 10752 0.00176711 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.035 Y Y -4 - 2 N - - SRA1 Pro230Leu P230L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.981 Y Y 7 Y 4 N - - SPRY4 Leu21Shift L21Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADRB2 Glu188Gly E188G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.202 Y - 6 Y 2 N - - TCOF1 Ala99Thr A99T not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - NSD1 Asn1650Ser N1650S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALDH5A1 Asn440Ser N440S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GABBR1 Cys96Shift C96Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLA2G7 Trp97Stop W97X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PKHD1 Asn2071His N2071H not reviewed Insufficiently evaluated not reviewed unknown Array rs35028328 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PKHD1 Trp1229Ser W1229S not reviewed Insufficiently evaluated not reviewed unknown Array rs2499481 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - IFNGR1 His335Pro H335P not reviewed Insufficiently evaluated not reviewed unknown Array rs17175350 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.174 Y - 5 Y 1 N - - SYNE1 Arg5662Ser R5662S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 3 - 4 N - - PMS2 Lys465Arg K465R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - HOXA3 Asn285Lys N285K not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 1 - 3 N - - AK096334 Leu88Shift L88Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPSR1 Trp287Stop W287X not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - AL832262 Gln3Stop Q3X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KCNQ3 Gly723Glu G723E not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.129 Y - 6 Y 1 N - - RECQL4 Arg1131Lys R1131K not reviewed Insufficiently evaluated not reviewed unknown Array rs1129211 29 10532 0.00275351 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - FANCC Gly139Glu G139E not reviewed Insufficiently evaluated not reviewed unknown Array rs1800362 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SETX Gly739Glu G739E not reviewed Insufficiently evaluated not reviewed unknown Array rs36024203 37 10756 0.00343994 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - RS1 Asn179Tyr N179Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61753170 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 5 Y 4 N - - RPGR Gly1136Asp G1136D not reviewed Insufficiently evaluated not reviewed unknown Array 67 8759 0.00764928 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - L1CAM Leu958Val L958V not reviewed Insufficiently evaluated not reviewed unknown Array rs35902890 94 8753 0.0107392 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATAD3C Ala91Ser A91S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - -1 - 0 N - - AK127994 Gly180Ser G180S not reviewed Insufficiently evaluated not reviewed unknown Array 10 3234 0.00309215 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCH2 Val1119Met V1119M not reviewed Insufficiently evaluated not reviewed unknown Array 88 10344 0.00850735 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFRSF14 Ala117Thr A117T not reviewed Insufficiently evaluated not reviewed unknown Array rs2234163 161 10724 0.0150131 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PRDM16 Leu1043Phe L1043F not reviewed Insufficiently evaluated not reviewed unknown Array 36 9880 0.00364372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEGF6 Val738Met V738M not reviewed Insufficiently evaluated not reviewed unknown Array 99 10010 0.00989011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - NPHP4 Val765Ile V765I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10254 0.00321826 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - -4 - 1 N - - NPHP4 Thr679Ala T679A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10356 9.6562e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 1 - 3 N - - NPHP4 Ser429Thr S429T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9832 0.000203417 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - PLEKHG5 Gln921Arg Q921R not reviewed Insufficiently evaluated not reviewed unknown Array rs3007419 165 10676 0.0154552 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 0 - 0 N - - DFFA Ser305Phe S305F not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - FHAD1 LysAla2AsnSer KA2NS not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RSC1A1 Ala370Thr A370T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - FAM131C Pro25Ser P25S not reviewed Insufficiently evaluated not reviewed unknown Array rs35576581 46 10098 0.00455536 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 3 - 0 N - - EPHA2 Asp232Gly D232G not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CROCC Arg623Trp R623W not reviewed Insufficiently evaluated not reviewed unknown Array 170 10462 0.0162493 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - CROCC Arg1573Gln R1573Q not reviewed Insufficiently evaluated not reviewed unknown Array 68 10040 0.00677291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CROCC Arg1841Gln R1841Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 9566 0.000731758 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSPG2 Arg1919His R1919H not reviewed Insufficiently evaluated not reviewed unknown Array rs62642521 45 10680 0.00421348 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GRHL3 Val266Ile V266I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRHL3 Arg392Cys R392C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RHCE Gly336Cys G336C not reviewed Insufficiently evaluated not reviewed unknown Array 149 10758 0.0138502 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PUM1 Ile952Val I952V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPOCD1 Ala773Thr A773T not reviewed Insufficiently evaluated not reviewed unknown Array rs34341430 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MACF1 Ser2398Pro S2398P not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF642 Val113Leu V113L not reviewed Insufficiently evaluated not reviewed unknown Array rs34752670 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - CLDN19 Leu13Phe L13F not reviewed Insufficiently evaluated not reviewed unknown Array rs12065961 76 10714 0.00709352 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.625 Y - 0 - 2 N - - RNF220 Thr484Ala T484A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 1 - 1 N - - NSUN4 Asn128Lys N128K not reviewed Insufficiently evaluated not reviewed unknown Array rs17102152 232 10758 0.0215653 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.174 - - 1 - 0 N - - CYP4B1 Phe247Leu F247L not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC4 Cys110Tyr C110Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - OMA1 Glu238Asp E238D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - CLCA1 Tyr661His Y661H not reviewed Insufficiently evaluated not reviewed unknown Array rs5744409 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.965 - - -1 - 2 N - - GBP3 Cys309Ser C309S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10124 0.0011853 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GBP5 Ser52Pro S52P not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - DPYD Gln972Arg Q972R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - VCAM1 Ala11Thr A11T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - CLCC1 Gly418Asp G418D not reviewed Insufficiently evaluated not reviewed unknown Array rs35985461 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.609 - - 4 Y 1 N - - CLCC1 Ser156Gly S156G not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - DDX20 Val642Leu V642L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740915 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CTTNBP2NL Met306Val M306V not reviewed Insufficiently evaluated not reviewed unknown Array 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM19A3 Asp146Asn D146N not reviewed Insufficiently evaluated not reviewed unknown Array 71 10756 0.00660097 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSDE1 Ala47Asp A47D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - TSPAN2 Gly39Arg G39R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 6 Y 2 N - - TRIM45 Gly517Arg G517R not reviewed Insufficiently evaluated not reviewed unknown Array rs34644534 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 6 Y 2 N - - MAN1A2 Ala461Thr A461T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPAG17 Glu1201Val E1201V not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 5 Y 2 N - - SPAG17 Ser906Pro S906P not reviewed Insufficiently evaluated not reviewed unknown Array 80 10748 0.00744325 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 3 - 2 N - - SRGAP2 Gln87Trp Q87W not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POLR3C Lys192Thr K192T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 3 - 2 N - - SV2A Gly68Del G68Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TARS2 Val485Ile V485I not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - ADAMTSL4 Pro763Leu P763L not reviewed Insufficiently evaluated not reviewed unknown Array rs56055939 44 10754 0.0040915 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 - - 7 Y 0 N - - ANXA9 Arg232Gln R232Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7542365 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 0 - 2 N - - GABPB1 Asn255Asp N255D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GABPB1 Gly399Glu G399E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TCHHL1 Arg491Gly R491G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC27A3 Arg137His R137H not reviewed Insufficiently evaluated not reviewed unknown Array 38 9098 0.00417674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.319 - - 1 - 1 N - - CREB3L4 Asn366Ser N366S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - PYGO2 Met141Ile M141I not reviewed Insufficiently evaluated not reviewed unknown Array rs61758740 20 10754 0.00185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DCST2 Gly621Ser G621S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 2 - 1 N - - EFNA1 Arg33Trp R33W not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HCN3 Ala681Thr A681T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10466 0.000191094 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CD1B Gly247Ser G247S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745679 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OR10K2 Leu222Phe L222F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR10R2 Val63Ile V63I not reviewed Insufficiently evaluated not reviewed unknown Array rs62642484 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - SPTA1 Asp2284Asn D2284N not reviewed Insufficiently evaluated not reviewed unknown Array 42 9522 0.00441084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SPTA1 Asp606Gly D606G not reviewed Insufficiently evaluated not reviewed unknown Array 21 9828 0.00213675 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD84 Pro72Leu P72L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.709 - - 7 Y 1 N - - GPA33 Pro314Leu P314L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - C1ORF112 Gly750Glu G750E not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASTN1 Ser313Ala S313A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -1 - 0 N - - TDRD5 Ser858Pro S858P not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - HMCN1 Gln3492Lys Q3492K not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.905 Y - -2 - 3 N - - PRG4 Lys442Glu K442E not reviewed Insufficiently evaluated not reviewed unknown Array 50 10750 0.00465116 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - KIF14 Val365Leu V365L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - DDX59 Val464Ala V464A not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 2 - 2 N - - RABIF Arg25Cys R25C not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ZC3H11A Pro341Leu P341L not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - PLEKHA6 Ala727Thr A727T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIK3C2B Ser1364Cys S1364C not reviewed Insufficiently evaluated not reviewed unknown Array rs61758001 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PM20D1 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - IKBKE Arg143His R143H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - NEK2 Arg190His R190H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TATDN3 Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.267 - - 7 Y 1 N - - TATDN3 Asn157Ser N157S not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR620847 Ile237Thr I237T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR620847 Cys11Arg C11R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CENPF Ile800Val I800V not reviewed Insufficiently evaluated not reviewed unknown Array 23 10730 0.00214352 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IARS2 Ile522Val I522V not reviewed Insufficiently evaluated not reviewed unknown Array rs11800305 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -4 - 2 N - - OBSCN Gly2113Cys G2113C not reviewed Insufficiently evaluated not reviewed unknown Array 70 10548 0.00663633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - OBSCN Ala3691Thr A3691T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10690 0.000374181 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 1 - 0 N - - C1ORF131 Arg177Gln R177Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34759016 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCNXL2 Thr977Ala T977A not reviewed Insufficiently evaluated not reviewed unknown Array 12 9594 0.00125078 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - TARBP1 Ala1014Ser A1014S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -1 - 0 N - - C1ORF101 Phe654Leu F654L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10556 0.00198939 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR2B11 Arg227Trp R227W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - TRIM58 Glu231Lys E231K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR2L8 Met143Lys M143K not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 4 Y 2 N - - OR2L8 Cys240Ser C240S not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 3 - 2 N - - OR2L2 Cys96Tyr C96Y not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - OR2T27 Thr279Ser T279S not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -2 - 2 N - - AKR1CL1 Glu39Lys E39K not reviewed Insufficiently evaluated not reviewed unknown Array rs61729618 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - DHTKD1 Pro840Ser P840S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - CUBN Ile1894Val I1894V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GPR158 Ser1048Tyr S1048Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 5 Y 1 N - - PARD3 Glu1255Gly E1255G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - ZNF25 Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - GPRIN2 Pro158Ser P158S not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 3 - 2 N - - ARID5B Ala618Thr A618T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - ARID5B Val801Ala V801A not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC24C Ile374Val I374V not reviewed Insufficiently evaluated not reviewed unknown Array rs35528438 203 10758 0.0188697 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - KIF20B Glu1250Asp E1250D not reviewed Insufficiently evaluated not reviewed unknown Array rs36109527 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HIF1AN Val129Phe V129F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - BTRC Thr414Ala T414A not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - NOLC1 Pro202Leu P202L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CALHM1 Val245Ile V245I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - -4 - 1 N - - AFAP1L2 Arg109Trp R109W not reviewed Insufficiently evaluated not reviewed unknown Array rs62641712 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - TACC2 Glu1568Gln E1568Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 114 0.0175439 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - -2 - 1 N - - LHPP Asp215Asn D215N not reviewed Insufficiently evaluated not reviewed unknown Array 79 10754 0.0073461 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - C10ORF90 Arg586His R586H not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PWWP2B Pro368Ser P368S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10618 0.000565078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KNDC1 Ala296Thr A296T not reviewed Insufficiently evaluated not reviewed unknown Array 96 10694 0.008977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - SIRT3 Pro66Ala P66A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10614 0.000471075 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 1 N - - PSMD13 Asn143Asp N143D not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANO9 Arg702His R702H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10752 0.00111607 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - PHRF1 Gly634Ser G634S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 2 - 0 N - - MUC5AC Pro67Ser P67S not reviewed Insufficiently evaluated not reviewed unknown Array 18 4580 0.00393013 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NUP98 Arg1712Gln R1712Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR51F2 Thr83Ala T83A not reviewed Insufficiently evaluated not reviewed unknown Array rs61741857 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - OR51F2 Trp100Leu W100L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743166 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - OR51S1 Leu123Phe L123F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 0 - 2 N - - TRIM6-TRIM34 Glu496Asp E496D not reviewed Insufficiently evaluated not reviewed unknown Array rs61758097 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR52L1 Ile263Val I263V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10346 0.000483278 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - GVINP1 Ala147Pro A147P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPN5 Cys513Arg C513R not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NAV2 Arg2142Cys R2142C not reviewed Insufficiently evaluated not reviewed unknown Array rs34329467 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - CCDC73 Thr1071Met T1071M not reviewed Insufficiently evaluated not reviewed unknown Array 44 9430 0.00466596 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GYLTL1B Leu82Met L82M not reviewed Insufficiently evaluated not reviewed unknown Array 252 10680 0.0235955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - OR4P4 Leu271Pro L271P not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 7 Y 0 N - - OR5D18 Leu96Ile L96I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR8H2 Asn90Ser N90S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - OR5J2 Leu47Pro L47P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 7 Y 0 N - - OR5M9 Leu209Val L209V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - OR5M9 Cys139Gly C139G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR5M3 Thr16Met T16M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR5M11 Pro79Leu P79L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - SLC43A1 His443Tyr H443Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34746107 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - -1 - 0 N - - ZDHHC5 Asp344Asn D344N not reviewed Insufficiently evaluated not reviewed unknown Array 152 10758 0.014129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - -1 - 1 N - - CTNND1 Lys794Arg K794R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - -3 - 0 N - - ZP1 Glu234Lys E234K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - INTS5 Thr158Met T158M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 2 - 0 N - - ATG2A Gly311Asp G311D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - NAALADL1 Ala384Thr A384T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10568 0.000378501 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - KCNK7 Gly61Arg G61R not reviewed Insufficiently evaluated not reviewed unknown Array 182 10724 0.0169713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.242 - - 6 Y 1 N - - SIPA1 Arg1007Gln R1007Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10674 0.000749484 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.479 - - 0 - 1 N - - MRPL21 Ser25Leu S25L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10754 0.00251069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGHMBP2 Gln51Glu Q51E not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - KRTAP5-7 Gly85Trp G85W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGEF17 Ser239Tyr S239Y not reviewed Insufficiently evaluated not reviewed unknown Array 76 9880 0.00769231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 5 Y 0 N - - ARHGEF17 Gly1363Glu G1363E not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - DNAJB13 Asp253Asn D253N not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -1 - 2 N - - POLD3 Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - POLD3 Leu393Val L393V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRRA1 Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array 21 9844 0.00213328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - OR2AT4 Ala242Gly A242G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 1 - 2 N - - TRIM49 His293Asp H293D not reviewed Insufficiently evaluated not reviewed unknown Array 797 10642 0.0748919 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.571 - - 3 - 0 N - - FAT3 Arg2457Gln R2457Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10104 0.000593824 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - FAT3 Ala3964Thr A3964T not reviewed Insufficiently evaluated not reviewed unknown Array 30 9918 0.0030248 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1731 Asp625Glu D625E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - CASP12 Asp61Tyr D61Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SIK2 Met377Ile M377I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - FDXACB1 Arg451His R451H not reviewed Insufficiently evaluated not reviewed unknown Array 30 9722 0.00308578 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKK1 Gly318Trp G318W not reviewed Insufficiently evaluated not reviewed unknown Array rs11604671 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKK1 Pro596Leu P596L not reviewed Insufficiently evaluated not reviewed unknown Array rs7104979 50 10348 0.00483185 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - HTR3B Ile68Val I68V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HTR3A Pro216Ser P216S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FAM55D Ala384Thr A384T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9844 0.000406338 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.186 - - 1 - 0 N - - TAGLN Asn182Ser N182S not reviewed Insufficiently evaluated not reviewed unknown Array rs12284316 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - 0 - 2 N - - NLRX1 Gly4Asp G4D not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 4 Y 1 N - - GRIK4 Arg262His R262H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR8D4 Ser44Arg S44R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734934 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - OR8D4 Asn206His N206H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744420 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - KCNJ5 Glu125Asp E125D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ADAMTS15 Ala853Thr A853T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNT8 Glu234Lys E234K not reviewed Insufficiently evaluated not reviewed unknown Array rs16931676 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - ANO2 Gly649Ala G649A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GNB3 Lys134Arg K134R not reviewed Insufficiently evaluated not reviewed unknown Array rs61747607 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C1S Val312Ile V312I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - -4 - 0 N - - APOBEC1 Glu41Gln E41Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.948 - - -2 - 2 N - - TAS2R13 His94Arg H94R not reviewed Insufficiently evaluated not reviewed unknown Array rs34885344 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - LOH12CR1 Asn14Ser N14S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR19 Val168Ile V168I not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.032 - - -4 - 0 N - - GPRC5A Ala24Gly A24G not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DERA Ala29Val A29V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TM7SF3 Arg527Gln R527Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - C12ORF35 Thr230Ser T230S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C12ORF35 Ser308Arg S308R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF35 Ser352Arg S352R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10756 0.00576422 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF35 Lys1398Thr K1398T not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PUS7L Ile50Val I50V not reviewed Insufficiently evaluated not reviewed unknown Array 31 10756 0.00288211 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ANO6 Pro275Ser P275S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ENDOU His208Gln H208Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DDX23 Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 1 - 2 N - - NM_020941 Thr692Ile T692I not reviewed Insufficiently evaluated not reviewed unknown Array rs2720299 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRT85 Phe71Ser F71S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10746 0.00130281 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - KRT3 Arg84Trp R84W not reviewed Insufficiently evaluated not reviewed unknown Array rs62617086 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPP1R1A Gly147Asp G147D not reviewed Insufficiently evaluated not reviewed unknown Array rs34376731 186 9754 0.0190691 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.146 - - 4 Y 0 N - - KIAA0748 Asn110His N110H not reviewed Insufficiently evaluated not reviewed unknown Array 51 9720 0.00524691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.282 - - 0 - 1 N - - METTL7B Arg174Leu R174L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAJC14 Leu327Val L327V not reviewed Insufficiently evaluated not reviewed unknown Array rs34103194 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOF Lys175Asn K175N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AVIL Ile21Thr I21T not reviewed Insufficiently evaluated not reviewed unknown Array rs3741426 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM5 Val157Ile V157I not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMTC2 Gln634Arg Q634R not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 0 - 0 N - - VEZT Phe72Ser F72S not reviewed Insufficiently evaluated not reviewed unknown Array 4 9496 0.000421229 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 5 Y 1 N - - NTN4 Pro448Ser P448S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - USP30 Arg170His R170H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GCN1L1 Ser333Leu S333L not reviewed Insufficiently evaluated not reviewed unknown Array 46 10252 0.00448693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SBNO1 Thr183Ile T183I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001083900 Met717Ile M717I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_001083900 Val2721Met V2721M not reviewed Insufficiently evaluated not reviewed unknown Array rs61743050 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA3 Val890Ala V890A not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - RNF17 Val382Ile V382I not reviewed Insufficiently evaluated not reviewed unknown Array rs61748302 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PABPC3 Tyr297Cys Y297C not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - KIAA0564 Arg1200Trp R1200W not reviewed Insufficiently evaluated not reviewed unknown Array 15 9482 0.00158194 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AJ412041 Val72Ile V72I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UGGT2 Phe924Ile F924I not reviewed Insufficiently evaluated not reviewed unknown Array rs35780499 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NALCN Lys35Glu K35E not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - C13ORF39 Asn46Ser N46S not reviewed Insufficiently evaluated not reviewed unknown Array rs16960383 175 10758 0.016267 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CARS2 Lys561Glu K561E not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - CARS2 Val497Ile V497I not reviewed Insufficiently evaluated not reviewed unknown Array 50 10742 0.00465463 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - -4 - 1 N - - DJ031140 Tyr89Cys Y89C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C13ORF35 Pro22Ser P22S not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MCF2L Arg12Cys R12C not reviewed Insufficiently evaluated not reviewed unknown Array 26 7748 0.0033557 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - CHD8 Met1543Val M1543V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10132 9.8697e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR10G2 Ile40Val I40V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLC7A8 Gly18Trp G18W not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - ZFHX2 Arg1023His R1023H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742840 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.479 - - 1 - 1 N - - IPO4 Arg158Trp R158W not reviewed Insufficiently evaluated not reviewed unknown Array 39 9946 0.00392117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - C14ORF21 Arg541Cys R541C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LTB4R2 Arg80Gln R80Q not reviewed Insufficiently evaluated not reviewed unknown Array 169 10692 0.0158062 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 0 - 2 N - - FAM179B SerSer1063TyrThr SS1063YT not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SAV1 Lys352Glu K352E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - NIN Cys1692Tyr C1692Y not reviewed Insufficiently evaluated not reviewed unknown Array 135 10758 0.0125488 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - C14ORF105 Gly217Arg G217R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0586 Gly56Glu G56E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0586 Thr480Ile T480I not reviewed Insufficiently evaluated not reviewed unknown Array rs61745119 72 9462 0.00760938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA0586 Asp1212Asn D1212N not reviewed Insufficiently evaluated not reviewed unknown Array 6 9026 0.000664746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLEKHH1 Asn75Ser N75S not reviewed Insufficiently evaluated not reviewed unknown Array rs7150973 200 9850 0.0203046 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZFP36L1 Pro50Thr P50T not reviewed Insufficiently evaluated not reviewed unknown Array rs35162541 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.234 - - 4 Y 1 N - - DCAF4 Arg35Trp R35W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.54 - - 7 Y 1 N - - YLPM1 Tyr452Phe Y452F not reviewed Insufficiently evaluated not reviewed unknown Array 107 9776 0.0109452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCDC88C Arg1630His R1630H not reviewed Insufficiently evaluated not reviewed unknown Array 37 10114 0.00365829 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 1 - 2 N - - C14ORF184 Gly95Glu G95E not reviewed Insufficiently evaluated not reviewed unknown Array 82 8854 0.00926135 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLGA5 Arg284Gln R284Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINA4 Arg138Cys R138C not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 8 Y 0 N - - CLMN Ala223Gly A223G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - AK7 Asp615Glu D615E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - ZNF839 Arg357Trp R357W not reviewed Insufficiently evaluated not reviewed unknown Array 31 9842 0.00314977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TECPR2 Leu597Phe L597F not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.656 - - 0 - 1 N - - TNFAIP2 Thr580Met T580M not reviewed Insufficiently evaluated not reviewed unknown Array rs2234146 83 10754 0.00771806 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - 2 - 0 N - - AHNAK2 Lys4315Arg K4315R not reviewed Insufficiently evaluated not reviewed unknown Array 16 9898 0.00161649 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.651 - - -3 - 1 N - - AHNAK2 Val4145Met V4145M not reviewed Insufficiently evaluated not reviewed unknown Array 76 9968 0.0076244 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 0 - 0 N - - AHNAK2 Gln2711Lys Q2711K not reviewed Insufficiently evaluated not reviewed unknown Array 75 9858 0.00760803 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - AHNAK2 Val2368Ile V2368I not reviewed Insufficiently evaluated not reviewed unknown Array 28 9992 0.00280224 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -4 - 0 N - - AHNAK2 Gly1839Glu G1839E not reviewed Insufficiently evaluated not reviewed unknown Array rs2582509 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.204 - - 6 Y 1 N - - AHNAK2 Ala1755Asp A1755D not reviewed Insufficiently evaluated not reviewed unknown Array 91 9444 0.00963575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK2 Thr727Pro T727P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AHNAK2 Val725Ile V725I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - -4 - 0 N - - AHNAK2 Thr720Ala T720A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10024 0.000199521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - AHNAK2 Ala687Val A687V not reviewed Insufficiently evaluated not reviewed unknown Array 43 9832 0.00437347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - AHNAK2 ProLeu683LeuSer PL683LS not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR619482 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP10A Ser623Gly S623G not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - ATP10A Gly476Ser G476S not reviewed Insufficiently evaluated not reviewed unknown Array 75 10742 0.00698194 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RYR3 Ile3000Val I3000V not reviewed Insufficiently evaluated not reviewed unknown Array rs10851894 191 9988 0.0191229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPRED1 Ala432Val A432V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - DISP2 Thr467Ile T467I not reviewed Insufficiently evaluated not reviewed unknown Array rs35004278 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 3 - 1 N - - PLA2G4E Gly38GlyGly G38GG not reviewed Insufficiently evaluated not reviewed unknown Array rs28736629 2 80 0.025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GANC Ser288Leu S288L not reviewed Insufficiently evaluated not reviewed unknown Array rs35285091 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - STARD9 Pro1444Arg P1444R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAP1A Arg1521Gly R1521G not reviewed Insufficiently evaluated not reviewed unknown Array 18 9696 0.00185643 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 1 N - - ONECUT1 Pro75Ala P75A not reviewed Insufficiently evaluated not reviewed unknown Array 251 10748 0.0233532 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 2 - 2 N - - BC131692 Thr51Met T51M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - RPL4 Tyr184Cys Y184C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - C15ORF39 Phe225Val F225V not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_024776 Glu1166Asp E1166D not reviewed Insufficiently evaluated not reviewed unknown Array 45 9814 0.00458529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.066 - - -2 - 0 N - - CIB2 Val52Ile V52I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RASGRF1 Thr796Met T796M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1199 Arg211Lys R211K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - IL16 Lys494Del K494Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - STARD5 Gly74Ser G74S not reviewed Insufficiently evaluated not reviewed unknown Array rs4384572 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - FAM154B Asp86Tyr D86Y not reviewed Insufficiently evaluated not reviewed unknown Array 110 10746 0.0102364 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 7 Y 2 N - - AKAP13 Val1648Ala V1648A not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPL46 Glu68Lys E68K not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.536 - - 0 - 1 N - - ZNF710 Gly73Trp G73W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.38 - - 7 Y 1 N - - MCTP2 Ala695Thr A695T not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM169B Val112Ile V112I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - TARSL2 Asp34Glu D34E not reviewed Insufficiently evaluated not reviewed unknown Array 32 9374 0.0034137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - PDIA2 Pro511Leu P511L not reviewed Insufficiently evaluated not reviewed unknown Array 4 9544 0.000419111 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - CHTF18 Asp284Glu D284E not reviewed Insufficiently evaluated not reviewed unknown Array rs61754097 72 10278 0.00700525 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - -2 - 1 N - - CHTF18 His637Leu H637L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 6 Y 2 N - - CACNA1H Arg505Cys R505C not reviewed Insufficiently evaluated not reviewed unknown Array rs60414549 38 8768 0.00433394 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - CACNA1H Arg1205Gln R1205Q not reviewed Insufficiently evaluated not reviewed unknown Array rs58594334 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.627 - - 0 - 1 N - - IFT140 Ala1422Thr A1422T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10750 0.00130233 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFT140 Arg919Gln R919Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - RNF151 Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10012 0.00219736 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - TBL3 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC64B Arg129Trp R129W not reviewed Insufficiently evaluated not reviewed unknown Array rs61747753 58 9626 0.00602535 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - C16ORF89 Pro327Thr P327T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10002 0.00079984 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLK1 Leu261Phe L261F not reviewed Insufficiently evaluated not reviewed unknown Array rs35056440 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATXN2L Gly371Val G371V not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - ZNF646 Cys1734Ser C1734S not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF720 Thr84Ile T84I not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ABCC11 Gly1275Ser G1275S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - CX3CL1 Ala235Asp A235D not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.086 - - 5 Y 0 N - - CDH5 Gln289His Q289H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CES2 Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array 2 82 0.0243902 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZDHHC1 Ser114Ile S114I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 5 Y 1 N - - CTRL Arg242Cys R242C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.534 - - 8 Y 1 N - - ESRP2 Asp692His D692H not reviewed Insufficiently evaluated not reviewed unknown Array rs62637560 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMCO7 Ile555Thr I555T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFHX3 Ser436Pro S436P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FA2H Val283Ile V283I not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - ZFP1 Thr355Ser T355S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNTNAP4 Gln470Arg Q470R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Gly813Val G813V not reviewed Insufficiently evaluated not reviewed unknown Array 87 10054 0.00865327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MBTPS1 Val821Leu V821L not reviewed Insufficiently evaluated not reviewed unknown Array rs35417190 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1609 Ser443Leu S443L not reviewed Insufficiently evaluated not reviewed unknown Array rs34628943 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 6 Y 1 N - - KIAA1609 Asp192Glu D192E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.927 - - -2 - 2 N - - MTHFSD Pro349Leu P349L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTHFSD Gly18Asp G18D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RTN4RL1 Gly147Ser G147S not reviewed Insufficiently evaluated not reviewed unknown Array 116 10604 0.0109393 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.516 - - 2 - 1 N - - USP6 Ile677Val I677V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -4 - 0 N - - STX8 Arg118Gln R118Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.794 - - 0 - 1 N - - MYH4 Thr1377Ser T1377S not reviewed Insufficiently evaluated not reviewed unknown Array rs34987433 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.794 - - -2 - 1 N - - HS3ST3B1 Glu363Lys E363K not reviewed Insufficiently evaluated not reviewed unknown Array rs9906590 161 10708 0.0150355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC050323 Gln274Lys Q274K not reviewed Insufficiently evaluated not reviewed unknown Array 2 98 0.0204082 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC050323 Ala693Val A693V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UTP6 Arg359Gly R359G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.582 - - 6 Y 1 N - - TMEM132E His239Tyr H239Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - KRT36 Pro432Ser P432S not reviewed Insufficiently evaluated not reviewed unknown Array rs12051598 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRT13 Arg429His R429H not reviewed Insufficiently evaluated not reviewed unknown Array 19 10718 0.00177272 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - WNK4 Val969Ile V969I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - SH3D20 Thr42Ala T42A not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3D20 Ser41Gly S41G not reviewed Insufficiently evaluated not reviewed unknown Array 1 22 0.0454545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_175882 Pro627Ser P627S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - 3 - 1 N - - MSI2 Ala283Thr A283T not reviewed Insufficiently evaluated not reviewed unknown Array 77 10752 0.00716146 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 1 - 2 N - - TEX14 Met660Val M660V not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL833315 Cys187Tyr C187Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - BPTF Gln2364Lys Q2364K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD300E Pro140Ser P140S not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 3 - 0 N - - ST6GALNAC1 Thr207Pro T207P not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - AK125672 Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEXDC Val338Met V338M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 0 - 1 N - - HEXDC Pro389Leu P389L not reviewed Insufficiently evaluated not reviewed unknown Array 38 10132 0.00375049 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LAMA1 Ile2282Val I2282V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -4 - 0 N - - ANKRD12 Glu927Asp E927D not reviewed Insufficiently evaluated not reviewed unknown Array rs35889774 140 10726 0.0130524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - -2 - 2 N - - ZNF24 Thr85Met T85M not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LOXHD1 Asn508Lys N508K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - ALPK2 Ser388Leu S388L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - PARD6G Thr315Ser T315S not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -2 - 1 N - - C2CD4C Pro125Ser P125S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIN3B Glu852Lys E852K not reviewed Insufficiently evaluated not reviewed unknown Array rs61744375 358 10738 0.0333395 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - ABCA7 Arg1237His R1237H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10404 0.00605536 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - POLR2E Arg101Trp R101W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ADAMTSL5 Arg404Gln R404Q not reviewed Insufficiently evaluated not reviewed unknown Array 142 10752 0.0132068 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMPRSS9 Phe983Tyr F983Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -4 - 2 N - - PLIN4 Ile620Val I620V not reviewed Insufficiently evaluated not reviewed unknown Array rs73920828 326 10336 0.0315402 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLIN4 Val573Ile V573I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10452 0.00133946 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - PLIN4 Ala466Thr A466T not reviewed Insufficiently evaluated not reviewed unknown Array rs61730732 126 9970 0.0126379 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - PLIN4 Met381Val M381V not reviewed Insufficiently evaluated not reviewed unknown Array 3 106 0.0283019 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1543 Cys249Trp C249W not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC16 Glu3158Lys E3158K not reviewed Insufficiently evaluated not reviewed unknown Array 3 9612 0.000312109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Gly1698Val G1698V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10004 0.00029988 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF562 Phe62Ser F62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - QTRT1 Ile350Val I350V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - C19ORF57 Thr442Arg T442R not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C19ORF57 Leu155Phe L155F not reviewed Insufficiently evaluated not reviewed unknown Array 50 10740 0.00465549 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASP14 Arg5Pro R5P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.413 - - 5 Y 1 N - - ILVBL Pro229Ser P229S not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - ANKLE1 Glu268Gln E268Q not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLVAP Pro396Leu P396L not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 7 Y 0 N - - SLC5A5 Leu313Phe L313F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y - 0 - 3 N - - KIAA1683 Arg1181Gln R1181Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10502 0.0023805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM161A Gly53Arg G53R not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - ZNF91 Gly710Glu G710E not reviewed Insufficiently evaluated not reviewed unknown Array 28 9906 0.00282657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD27 Val290Ala V290A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - ATP4A Pro240His P240H not reviewed Insufficiently evaluated not reviewed unknown Array 90 10756 0.00836742 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 5 Y 2 N - - ZNF585A His49Gln H49Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62110074 153 10756 0.0142246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HKR1 Gly177Glu G177E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF607 Phe123Leu F123L not reviewed Insufficiently evaluated not reviewed unknown Array rs35735839 149 10758 0.0138502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EIF3K Lys72Thr K72T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - RINL Asp134Glu D134E not reviewed Insufficiently evaluated not reviewed unknown Array rs62640393 92 10756 0.00855337 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - SIRT2 Leu44Phe L44F not reviewed Insufficiently evaluated not reviewed unknown Array rs45535036 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO17 Asp28Ala D28A not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IL28B Glu171Lys E171K not reviewed Insufficiently evaluated not reviewed unknown Array rs62120527 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF546 Arg451Cys R451C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 8 Y 2 N - - SNRPA Met51Thr M51T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.959 - - 2 - 2 N - - AXL Asp892Ala D892A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.885 - - 5 Y 2 N - - CEACAM4 Val157Met V157M not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 0 - 1 N - - PSG3 Pro3Thr P3T not reviewed Insufficiently evaluated not reviewed unknown Array 63 7524 0.0083732 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - PSG4 Pro237Leu P237L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF283 Cys14Arg C14R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF283 Leu32Pro L32P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CLASRP Arg512His R512H not reviewed Insufficiently evaluated not reviewed unknown Array 33 8814 0.00374404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DMWD Glu357Asp E357D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - RSPH6A Val413Met V413M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - DHX34 Ala416Thr A416T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10750 0.00204651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLTSCR1 Val718Met V718M not reviewed Insufficiently evaluated not reviewed unknown Array 3 9602 0.000312434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLEKHA4 Arg597Gln R597Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12460394 165 10758 0.0153374 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.966 - - 0 - 2 N - - PLEKHA4 Pro533Arg P533R not reviewed Insufficiently evaluated not reviewed unknown Array rs61755449 179 10758 0.0166388 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.777 - - 5 Y 1 N - - AP2A1 Gln568Pro Q568P not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - JOSD2 Asn107Ile N107I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF432 Arg533Gln R533Q not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - ZNF816 Lys258Asn K258N not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF749 Glu101Lys E101K not reviewed Insufficiently evaluated not reviewed unknown Array rs61747531 67 10758 0.00622792 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF551 Arg534Trp R534W not reviewed Insufficiently evaluated not reviewed unknown Array rs12611105 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF544 Leu171Ser L171S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF446 Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10638 0.00460613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - GREB1 Thr710Ile T710I not reviewed Insufficiently evaluated not reviewed unknown Array 19 9996 0.00190076 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - RAD51AP2 Arg909Lys R909K not reviewed Insufficiently evaluated not reviewed unknown Array 32 9406 0.00340208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.375 - - -3 - 1 N - - APOB Gly4557Ala G4557A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - UBXN2A Ser125Phe S125F not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - PLB1 Val803Met V803M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - 0 - 2 N - - GPR75 Ser348Arg S348R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PAPOLG Ile42Val I42V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PROKR1 Asn36Tyr N36Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61742477 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.44 - - 5 Y 1 N - - C2ORF42 Arg487His R487H not reviewed Insufficiently evaluated not reviewed unknown Array rs35340595 41 10756 0.00381183 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CTNNA2 Pro602Leu P602L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TEKT4 Asn373Tyr N373Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.216 - - 5 Y 1 N - - TEKT4 Met374Lys M374K not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 4 Y 1 N - - C2ORF15 Ile29Met I29M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MERTK Ser261Asn S261N not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.991 Y - 0 - 3 N - - MYO7B Gly1053Ser G1053S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10576 0.00217474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO7B Gly1139Ser G1139S not reviewed Insufficiently evaluated not reviewed unknown Array 22 9554 0.0023027 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.56 - - 2 - 1 N - - AK127124 Pro22Ala P22A not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAZ2B Asn2000Ser N2000S not reviewed Insufficiently evaluated not reviewed unknown Array 133 9510 0.0139853 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - SCN2A Lys499Glu K499E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.485 Y - 0 - 2 N - - GORASP2 Thr415Met T415M not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 2 - 2 N - - MTX2 His76Arg H76R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10724 0.00149198 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - ZNF804A Gln317Arg Q317R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10752 0.00334821 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF804A Ser1013Cys S1013C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC118982 Gln114Arg Q114R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - 0 - 2 N - - ZDBF2 Thr1590Pro T1590P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC11A1 Val484Met V484M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - ZFAND2B Ser246Asn S246N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ANKZF1 Glu86Lys E86K not reviewed Insufficiently evaluated not reviewed unknown Array 19 9720 0.00195473 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - DNER Thr142Ile T142I not reviewed Insufficiently evaluated not reviewed unknown Array 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - UGT1A4 Ile176Phe I176F not reviewed Insufficiently evaluated not reviewed unknown Array rs45540231 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 2 - 1 N - - AGAP1 Val688Ile V688I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.246 - - -4 - 1 N - - ESPNL Gly239Arg G239R not reviewed Insufficiently evaluated not reviewed unknown Array 63 10750 0.00586047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - NEU4 Arg183Cys R183C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10732 9.3179e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - TMC2 Ser106Phe S106F not reviewed Insufficiently evaluated not reviewed unknown Array 141 10728 0.0131432 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.254 - - 5 Y 1 N - - C20ORF194 Arg724Gln R724Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 9882 0.0033394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM33 Trp515Arg W515R not reviewed Insufficiently evaluated not reviewed unknown Array rs615436 236 10758 0.0219372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 7 Y 0 N - - BFSP1 Glu16Gln E16Q not reviewed Insufficiently evaluated not reviewed unknown Array 58 6552 0.00885226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - -2 - 2 N - - C20ORF72 His281Arg H281R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLK1S1 Met170Arg M170R not reviewed Insufficiently evaluated not reviewed unknown Array 90 9806 0.00917805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLK1S1 Pro623Ser P623S not reviewed Insufficiently evaluated not reviewed unknown Array rs34269420 91 9718 0.00936407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VSX1 Arg131Ser R131S not reviewed Insufficiently evaluated not reviewed unknown Array rs6050307 273 8374 0.0326009 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 3 - 1 N - - NINL Pro128Leu P128L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 7 Y 0 N - - MYH7B Glu916Lys E916K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10092 9.9088e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPAG4 Ser110Pro S110P not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BPI Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array rs5743498 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCG1 Asn728Ser N728S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RIMS4 Lys147Arg K147R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.318 - - -3 - 1 N - - ELMO2 Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - 8 Y 1 N - - NFATC2 Val302Leu V302L not reviewed Insufficiently evaluated not reviewed unknown Array rs61735418 17 10638 0.00159804 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF151 Glu476Lys E476K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10552 0.00255876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARFGAP1 Pro249Ala P249A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP8-1 Tyr63His Y63H not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - -1 - 2 N - - C21ORF29 Val298Phe V298F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-8 Ile137Leu I137L not reviewed Insufficiently evaluated not reviewed unknown Array 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCNT Val2387Met V2387M not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.603 - - 0 - 1 N - - PCNT Gln2468His Q2468H not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.288 - - -1 - 1 N - - VPREB1 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10716 9.3318e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 8 Y 2 N - - PIWIL3 Ser184Phe S184F not reviewed Insufficiently evaluated not reviewed unknown Array 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.22 - - 5 Y 1 N - - TMEM211 Gly80Asp G80D not reviewed Insufficiently evaluated not reviewed unknown Array rs34889393 120 10758 0.0111545 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO18B Arg1801Gln R1801Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10110 0.000494559 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - SFI1 Gln327Lys Q327K not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - -2 - 1 N - - SFI1 Arg698Gly R698G not reviewed Insufficiently evaluated not reviewed unknown Array rs61744631 43 10078 0.00426672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - 6 Y 2 N - - SUN2 Pro219Leu P219L not reviewed Insufficiently evaluated not reviewed unknown Array rs1883206 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SUN2 Arg52His R52H not reviewed Insufficiently evaluated not reviewed unknown Array rs4510314 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - APOBEC3B Glu176Asp E176D not reviewed Insufficiently evaluated not reviewed unknown Array 59 10724 0.00550168 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ATF4 Lys45Ile K45I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.561 - - 6 Y 1 N - - SMC1B Glu911Asp E911D not reviewed Insufficiently evaluated not reviewed unknown Array 46 9552 0.00481575 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PKDREJ Pro1531Leu P1531L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.785 - - 7 Y 1 N - - IL17RC Gln329His Q329H not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - TATDN2 Gly494Cys G494C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GRIP2 Asp949Asn D949N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CAPN7 Ser362Ala S362A not reviewed Insufficiently evaluated not reviewed unknown Array 113 10756 0.0105058 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - -1 - 2 N - - SGOL1 Val171Ala V171A not reviewed Insufficiently evaluated not reviewed unknown Array rs6806241 98 10754 0.00911289 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - STAC Cys358Tyr C358Y not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PLCD1 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCN10A Arg485Cys R485C not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ENTPD3 Leu285Pro L285P not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 7 Y 0 N - - C3ORF23 Ala240Val A240V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTH1R Arg43His R43H not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.521 - - 1 - 1 N - - NBEAL2 Gly291Asp G291D not reviewed Insufficiently evaluated not reviewed unknown Array 7 10352 0.000676197 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 4 Y 0 N - - SETD2 Asn1555Ser N1555S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETD2 Thr1448Ala T1448A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CELSR3 Ser930Arg S930R not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DALRD3 Cys277Phe C277F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - ACY1 Asn179Ser N179S not reviewed Insufficiently evaluated not reviewed unknown Array rs887540 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 0 - 0 N - - TLR9 Leu673Val L673V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - STAB1 Ala2485Val A2485V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10732 0.00204994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC113059 Arg55His R55H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL17RB Gln221Pro Q221P not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - FAM116A Pro381Thr P381T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - C3ORF67 Ser158Arg S158R not reviewed Insufficiently evaluated not reviewed unknown Array rs13324082 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF717 Lys575Thr K575T not reviewed Insufficiently evaluated not reviewed unknown Array 1 46 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HTR1F Met91Thr M91T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - C3ORF52 Leu66Pro L66P not reviewed Insufficiently evaluated not reviewed unknown Array rs16859172 64 9796 0.00653328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEMA5B Glu768Asp E768D not reviewed Insufficiently evaluated not reviewed unknown Array 53 10616 0.00499246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJB8 Arg67Gly R67G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 6 Y 2 N - - COL6A6 Glu824Asp E824D not reviewed Insufficiently evaluated not reviewed unknown Array 4 9684 0.000413052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -2 - 2 N - - EPHB1 Val897Met V897M not reviewed Insufficiently evaluated not reviewed unknown Array rs61736108 22 10480 0.00209924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ESYT3 Pro289His P289H not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - CEP70 Leu424His L424H not reviewed Insufficiently evaluated not reviewed unknown Array rs34053101 112 10754 0.0104147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEP70 Ser12Asn S12N not reviewed Insufficiently evaluated not reviewed unknown Array rs35316028 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.326 - - 0 - 1 N - - FAIM Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF72 Arg117His R117H not reviewed Insufficiently evaluated not reviewed unknown Array 15 9532 0.00157365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACPL2 Val419Ile V419I not reviewed Insufficiently evaluated not reviewed unknown Array rs34512847 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - PCOLCE2 Arg303Gln R303Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - PLOD2 Val391Leu V391L not reviewed Insufficiently evaluated not reviewed unknown Array 75 10750 0.00697674 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - RNF13 Val173Ile V173I not reviewed Insufficiently evaluated not reviewed unknown Array 196 10752 0.0182292 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGEF26 Met589Ile M589I not reviewed Insufficiently evaluated not reviewed unknown Array 32 9894 0.00323428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RSRC1 Arg80Gly R80G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SMC4 Ile615Val I615V not reviewed Insufficiently evaluated not reviewed unknown Array rs61996334 79 10736 0.00735842 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -4 - 2 N - - PHC3 Thr122Ala T122A not reviewed Insufficiently evaluated not reviewed unknown Array rs35688815 33 9636 0.00342466 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NAALADL2 Ser603Gly S603G not reviewed Insufficiently evaluated not reviewed unknown Array 2 9352 0.000213857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.895 - - 2 - 2 N - - ECE2 Thr777Ala T777A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.904 - - 1 - 2 N - - KIAA0226 Pro432Ala P432A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746462 15 10104 0.00148456 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.565 - - 2 - 1 N - - PCGF3 Arg123Trp R123W not reviewed Insufficiently evaluated not reviewed unknown Array 5 9956 0.000502209 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 7 Y 2 N - - LRPAP1 Gly166Ser G166S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OTOP1 Ala386Pro A386P not reviewed Insufficiently evaluated not reviewed unknown Array 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 2 - 1 N - - KIAA0232 Pro369Leu P369L not reviewed Insufficiently evaluated not reviewed unknown Array 9 9652 0.000932449 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARAP2 Asn943Ser N943S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.436 - - 0 - 1 N - - SPATA18 Lys292Arg K292R not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - -3 - 2 N - - UGT2B10 Asp67Tyr D67Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61750900 804 10754 0.0747629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CSN1S1 Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - THAP9 Ile663Val I663V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - DSPP Asn722Asp N722D not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C4ORF37 Tyr68Cys Y68C not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADH1B Thr60Ser T60S not reviewed Insufficiently evaluated not reviewed unknown Array rs6413413 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GYPA Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array rs56172553 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP10 Met226Thr M226T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - TLR2 Lys630Arg K630R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -3 - 2 N - - CTSO Ala65Thr A65T not reviewed Insufficiently evaluated not reviewed unknown Array 68 10750 0.00632558 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 - - 1 - 2 N - - RXFP1 Ser707Asn S707N not reviewed Insufficiently evaluated not reviewed unknown Array 31 9730 0.00318602 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FSTL5 Thr575Asn T575N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - FSTL5 Gly71Val G71V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 8 Y 2 N - - GK Met227Val M227V not reviewed Insufficiently evaluated not reviewed unknown Array rs28435142 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SPOCK3 Asp80Asn D80N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - DDX60L Ala106Ser A106S not reviewed Insufficiently evaluated not reviewed unknown Array 6 9606 0.000624609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - NEK1 Cys855Arg C855R not reviewed Insufficiently evaluated not reviewed unknown Array 6 9484 0.000632644 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 8 Y 1 N - - TRIML1 Ala230Thr A230T not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG4B Leu790Pro L790P not reviewed Insufficiently evaluated not reviewed unknown Array 330 10744 0.0307148 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 7 Y 0 N - - UGT3A1 Arg364His R364H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSMR Ser800Thr S800T not reviewed Insufficiently evaluated not reviewed unknown Array rs35739767 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - CDC20B Thr380Ile T380I not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - SKIV2L2 Gln927Arg Q927R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - 0 - 0 N - - ACTBL2 Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ADAMTS6 Arg603Trp R603W not reviewed Insufficiently evaluated not reviewed unknown Array 54 10756 0.00502045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ERBB2IP Asn181Ser N181S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GTF2H2D Ile151Met I151M not reviewed Insufficiently evaluated not reviewed unknown Array rs2576895 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BDP1 Thr2269Ala T2269A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - BTF3 Asp11Glu D11E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10418 0.000479938 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.187 - - -2 - 0 N - - ACOT12 Ser430Gly S430G not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR36 Ile604Val I604V not reviewed Insufficiently evaluated not reviewed unknown Array rs34661294 72 10756 0.00669394 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -4 - 1 N - - EPB41L4A Arg479Cys R479C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9510 0.000105152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FSTL4 Asn191Ser N191S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741667 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.168 - - 0 - 0 N - - CDKL3 Tyr378His Y378H not reviewed Insufficiently evaluated not reviewed unknown Array 12 9622 0.00124714 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - FAM13B Asn815Lys N815K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - BRD8 Arg121Gln R121Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 0 - 2 N - - SLC23A1 Ile222Val I222V not reviewed Insufficiently evaluated not reviewed unknown Array rs34521685 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PCDHB8 Pro257Ser P257S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 3 - 0 N - - PCDHB14 Glu522Gln E522Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - -2 - 2 N - - AFAP1L1 Ser104Asn S104N not reviewed Insufficiently evaluated not reviewed unknown Array 116 10758 0.0107827 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.051 - - 0 - 0 N - - ARHGEF37 Pro139Leu P139L not reviewed Insufficiently evaluated not reviewed unknown Array 89 10696 0.00832087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - CSF1R Asn153His N153H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBM22 Pro90Ala P90A not reviewed Insufficiently evaluated not reviewed unknown Array rs34249089 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNIP1 Lys217Glu K217E not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 0 - 0 N - - GRIA1 Arg208Pro R208P not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ADAM19 Tyr797Phe Y797F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SOX30 Tyr697His Y697H not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.187 - - -1 - 0 N - - SOX30 Glu216Lys E216K not reviewed Insufficiently evaluated not reviewed unknown Array rs61732990 77 10754 0.00716013 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - 0 - 0 N - - LSM11 Glu238Val E238V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 5 Y 1 N - - IL12B Arg250Gln R250Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y - 0 - 1 N - - RARS Val460Met V460M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - GMCL1L Asp419Tyr D419Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HUS1B His50Tyr H50Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - RIPK1 Pro568Ala P568A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 2 - 0 N - - HIST1H2AB Asn74Lys N74K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCAND3 His980Tyr H980Y not reviewed Insufficiently evaluated not reviewed unknown Array 71 10750 0.00660465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - -1 - 2 N - - TNF Arg8Gln R8Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.058 - - 0 - 0 N - - SLC26A8 Asn542Ser N542S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - CDKN1A Phe63Leu F63L not reviewed Insufficiently evaluated not reviewed unknown Array rs4986867 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 0 - 2 N - - TFEB Ala25Thr A25T not reviewed Insufficiently evaluated not reviewed unknown Array 1 62 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP49 Arg131Ser R131S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 3 - 0 N - - C6ORF226 Ser95Leu S95L not reviewed Insufficiently evaluated not reviewed unknown Array 52 9990 0.00520521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP2R5D Pro38Leu P38L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - 7 Y 0 N - - TJAP1 Arg361His R361H not reviewed Insufficiently evaluated not reviewed unknown Array rs7767260 321 10756 0.0298438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PGK2 Ser136Cys S136C not reviewed Insufficiently evaluated not reviewed unknown Array rs35008434 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 3 - 0 N - - GFRAL Leu341Ser L341S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.911 - - 6 Y 2 N - - ZNF451 Arg725His R725H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - C6ORF150 Tyr483Phe Y483F not reviewed Insufficiently evaluated not reviewed unknown Array 17 10756 0.00158051 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CD109 Lys161Thr K161T not reviewed Insufficiently evaluated not reviewed unknown Array rs61730425 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 3 - 0 N - - FAM46A Gly25Asp G25D not reviewed Insufficiently evaluated not reviewed unknown Array 55 8194 0.00671223 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RARS2 Asp347Asn D347N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - C6ORF203 His111Gln H111Q not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WASF1 Ala462Val A462V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VNN2 Arg393Gln R393Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34856068 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGK1 Arg383Gln R383Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - BCLAF1 Arg58Cys R58C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IL20RA Arg88Lys R88K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - -3 - 0 N - - UTRN Ser1561Cys S1561C not reviewed Insufficiently evaluated not reviewed unknown Array rs35042870 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAET1G His268Gln H268Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.815 - - -1 - 1 N - - THBS2 Ala121Thr A121T not reviewed Insufficiently evaluated not reviewed unknown Array rs34332730 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHST12 Val12Trp V12W not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZDHHC4 Cys298Phe C298F not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - RSPH10B Glu68Lys E68K not reviewed Insufficiently evaluated not reviewed unknown Array 92 10600 0.00867924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK027618 Lys284Asn K284N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCB5 Thr765Met T765M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH11 Pro629Ser P629S not reviewed Insufficiently evaluated not reviewed unknown Array 39 9668 0.00403393 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - CDCA7L Ser62Cys S62C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.706 - - 3 - 1 N - - STK31 Gln23Arg Q23R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 0 - 1 N - - EVX1 Ala293Ser A293S not reviewed Insufficiently evaluated not reviewed unknown Array 19 9210 0.00206297 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - -1 - 0 N - - WIPF3 Val463Ala V463A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BBS9 Arg521Gln R521Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34218557 116 10756 0.0107847 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.968 - Y 0 - 3 N - - CR597893 Phe89Ser F89S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NPC1L1 Asp312His D312H not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNS3 Ser504Leu S504L not reviewed Insufficiently evaluated not reviewed unknown Array 109 10076 0.0108178 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - DQ581928 Met1Lys M1K not reviewed Insufficiently evaluated not reviewed unknown Array rs71530966 1 38 0.0263158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 4 Y 1 N - - CLDN4 Val152Ala V152A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 2 - 0 N - - C7ORF63 Val848Gly V848G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TECPR1 Thr1062Met T1062M not reviewed Insufficiently evaluated not reviewed unknown Array 3 9826 0.000305312 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - ZNF394 Thr62Ala T62A not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 1 - 2 N - - BC046135 Ala163Val A163V not reviewed Insufficiently evaluated not reviewed unknown Array 44 3234 0.0136054 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCOLCE Ser217Leu S217L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10712 0.00121359 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.475 - - 6 Y 1 N - - ZAN Pro2198Gln P2198Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 9644 0.00673994 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRIP6 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.709 - - 0 - 1 N - - MUC17 Glu1255Val E1255V not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC17 Thr3934Ile T3934I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYL10 Ser58Gly S58G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH2B2 Gly478Ser G478S not reviewed Insufficiently evaluated not reviewed unknown Array 1 14 0.0714286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - CTTNBP2 Gln1148Lys Q1148K not reviewed Insufficiently evaluated not reviewed unknown Array rs10274022 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -2 - 2 N - - TSPAN12 Thr290Ala T290A not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - PODXL Ala339Thr A339T not reviewed Insufficiently evaluated not reviewed unknown Array rs3212301 184 10758 0.0171035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRGUK Arg120His R120H not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 1 - 0 N - - LRGUK Asp584Val D584V not reviewed Insufficiently evaluated not reviewed unknown Array rs35605917 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 8 Y 2 N - - C7ORF49 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_003715 Gly119Glu G119E not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.381 - - 6 Y 1 N - - NM_001126313 Met76Thr M76T not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF282 Glu543Asp E543D not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NCAPG2 Thr794Met T794M not reviewed Insufficiently evaluated not reviewed unknown Array rs10248318 54 9874 0.00546891 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - C8ORF42 Ser120Ala S120A not reviewed Insufficiently evaluated not reviewed unknown Array 154 9704 0.0158697 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYOM2 Gln431His Q431H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MTMR9 Asn14Ser N14S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - C8ORF49 Arg176Leu R176L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC7A2 Met453Val M453V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MTUS1 Arg600Gly R600G not reviewed Insufficiently evaluated not reviewed unknown Array 28 9716 0.00288184 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - ATP6V1B2 Ala14Ser A14S not reviewed Insufficiently evaluated not reviewed unknown Array 129 10706 0.0120493 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -1 - 2 N - - TMEM66 Pro226Ser P226S not reviewed Insufficiently evaluated not reviewed unknown Array rs34416759 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - 3 - 0 N - - ASH2L Glu29Asp E29D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10748 9.304e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.027 - - -2 - 0 N - - DDHD2 Gly76Tyr G76Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC127738 Lys58Arg K58R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - REXO1L1 Gln298Arg Q298R not reviewed Insufficiently evaluated not reviewed unknown Array 2 2 1 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC7A13 Thr237Del T237Del not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM82B Ala2Ser A2S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10634 0.000940379 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - -1 - 1 N - - CPNE3 Ile400Val I400V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - -4 - 2 N - - POP1 Ala44Pro A44P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPYS Arg10His R10H not reviewed Insufficiently evaluated not reviewed unknown Array 20 8570 0.00233372 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.391 Y - 1 - 2 N - - EIF3E Leu18Val L18V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - TMEM74 Thr94Ala T94A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 1 - 0 N - - PKHD1L1 Val2777Ile V2777I not reviewed Insufficiently evaluated not reviewed unknown Array 56 9908 0.005652 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZHX2 Pro342Thr P342T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - FER1L6 Ile135Thr I135T not reviewed Insufficiently evaluated not reviewed unknown Array 39 9634 0.00404816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 0 N - - FER1L6 Asn181Asp N181D not reviewed Insufficiently evaluated not reviewed unknown Array 152 10082 0.0150764 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FER1L6 Thr591Ile T591I not reviewed Insufficiently evaluated not reviewed unknown Array 70 10326 0.006779 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CYP11B2 Asn281Ser N281S not reviewed Insufficiently evaluated not reviewed unknown Array rs4537 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ZNF517 His138Leu H138L not reviewed Insufficiently evaluated not reviewed unknown Array rs10093836 261 10598 0.0246273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF16 Glu105Lys E105K not reviewed Insufficiently evaluated not reviewed unknown Array rs3735784 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ZNF252 His208Arg H208R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 1 - 2 N - - KIAA0020 Ile264Val I264V not reviewed Insufficiently evaluated not reviewed unknown Array rs35869387 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - C9ORF150 Ser58Gly S58G not reviewed Insufficiently evaluated not reviewed unknown Array 1 26 0.0384615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FREM1 Asp1571Asn D1571N not reviewed Insufficiently evaluated not reviewed unknown Array 23 10150 0.00226601 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.071 - - -1 - 0 N - - ADAMTSL1 Asp261Gly D261G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND4C Glu786Lys E786K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 0 - 0 N - - DENND4C Gly978Arg G978R not reviewed Insufficiently evaluated not reviewed unknown Array rs61756711 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - TEK Ile148Thr I148T not reviewed Insufficiently evaluated not reviewed unknown Array rs35969327 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - NFX1 Arg235Gln R235Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 0 - 1 N - - PTENP1 Leu284Phe L284F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF131 Cys535Ser C535S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RUSC2 Pro473Leu P473L not reviewed Insufficiently evaluated not reviewed unknown Array rs61740253 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 7 Y 1 N - - GBA2 Gly423Ser G423S not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PGM5 Gln463Lys Q463K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM189A2 Thr233Ile T233I not reviewed Insufficiently evaluated not reviewed unknown Array rs35386391 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SMC5 Ala188Thr A188T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - IARS Val1191Met V1191M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOL8 Val272Ala V272A not reviewed Insufficiently evaluated not reviewed unknown Array 11 9578 0.00114846 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - OMD Lys84Asn K84N not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 1 - 1 N - - PTPDC1 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10652 0.00122043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - -1 - 2 N - - ZNF322B Arg23Trp R23W not reviewed Insufficiently evaluated not reviewed unknown Array 25 10272 0.0024338 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 7 Y 0 N - - C9ORF84 Leu197Pro L197P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10748 0.000651283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1958 Thr644Asn T644N not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - 1 - 1 N - - FKBP15 Gly1198Arg G1198R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 6 Y 1 N - - CEP110 Glu1322Asp E1322D not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - CEP110 Gln2128His Q2128H not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - -1 - 2 N - - OR5C1 Arg93Gln R93Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 1 N - - GAPVD1 Pro958Ser P958S not reviewed Insufficiently evaluated not reviewed unknown Array rs62637637 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GLE1 Pro363Leu P363L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPTAN1 Arg1216Leu R1216L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.254 - - 6 Y 1 N - - SET Leu22Pro L22P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - AL834139 Arg687His R687H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LAMC3 Ser813Lys S813K not reviewed Insufficiently evaluated not reviewed unknown Array rs55741126 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTF1 Val314Leu V314L not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C9ORF62 Leu28Phe L28F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NACC2 Ala513Thr A513T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10552 0.000189537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CARD9 Val130Leu V130L not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - SNAPC4 Asp44Asn D44N not reviewed Insufficiently evaluated not reviewed unknown Array rs7031489 82 10756 0.00762365 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - PHPT1 Val3Ala V3A not reviewed Insufficiently evaluated not reviewed unknown Array rs11551678 164 10756 0.0152473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAMDC4 Val372Ile V372I not reviewed Insufficiently evaluated not reviewed unknown Array 51 10318 0.00494282 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -4 - 0 N - - C9ORF140 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXD3 Leu23Val L23V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 0 - 0 N - - PNPLA7 Asp746Gly D746G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC018860 Arg99Trp R99W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP6 Glu111Del E111Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TLR8 Arg715Gln R715Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5744082 51 8761 0.00582125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - SYAP1 Glu293Ala E293A not reviewed Insufficiently evaluated not reviewed unknown Array 5 8761 0.000570711 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 3 - 2 N - - CXORF22 Met779Leu M779L not reviewed Insufficiently evaluated not reviewed unknown Array 58 8754 0.00662554 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NUDT10 Pro89Arg P89R not reviewed Insufficiently evaluated not reviewed unknown Array 2 64 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASB12 Thr22Ile T22I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 3 - 0 N - - MTMR9 Pro62His P62H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COX7B Ser16Arg S16R not reviewed Insufficiently evaluated not reviewed unknown Array rs61752458 85 8761 0.00970209 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - 3 - 0 N - - LPAR4 Val45Ile V45I not reviewed Insufficiently evaluated not reviewed unknown Array 57 8761 0.00650611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - -4 - 2 N - - HMGN5 Glu210Gln E210Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 6706 0.00253504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - VSIG1 Val147Ile V147I not reviewed Insufficiently evaluated not reviewed unknown Array rs17254305 143 8761 0.0163223 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - BC034811 Leu9Phe L9F not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.43 - - 0 - 1 N - - KIAA1210 Thr1182Ile T1182I not reviewed Insufficiently evaluated not reviewed unknown Array rs61738495 28 7736 0.00361944 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRIA3 Asp220Gly D220G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.457 - - 4 Y 1 N - - TFDP3 Met112Thr M112T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR622587 Gln69Glu Q69E not reviewed Insufficiently evaluated not reviewed unknown Array 2 91 0.021978 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001126492 His46Asp H46D not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MAGEA11 Glu130Lys E130K not reviewed Insufficiently evaluated not reviewed unknown Array rs61737275 101 8761 0.0115284 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.52 - - 0 - 1 N - - PNMA6A Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NPHP4 Pro572Leu P572L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 7 Y 3 N - - KIF1B Leu1488Shift L1488Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TNFRSF1B Phe147Shift F147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HP1BP3 Thr237Shift T237Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNNI3K Phe342Shift F342Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL11A1 Phe872Ile F872I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CGN Leu922Shift L922Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Val437Ala V437A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.651 Y Y 2 - 3 N - - OR10R2 Gln159Stop Q159X not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM20B Pro237Shift P237Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASPM Tyr1742His Y1742H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - CACNA1S Gly1760Ala G1760A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ACTN2 Glu583Gly E583G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.022 Y Y 6 Y 2 N - - RYR2 Tyr4391Stop Y4391X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - FH Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PDSS1 Trp6Leu W6L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - MASTL Tyr687Cys Y687C not reviewed Insufficiently evaluated not reviewed unknown Array rs41282224 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 6 Y 1 N - - CCDC6 Gly47Shift G47Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CH25H Trp257Stop W257X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ABCC2 Tyr217Ser Y217S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.881 Y - 5 Y 3 N - - ABCC2 Gln1180Stop Q1180X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - ZNF214 Arg570Stop R570X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LUZP2 Asn138Shift N138Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGBL2 Arg282Shift R282Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR5B17 Gln22Stop Q22X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BEST1 Gln170Stop Q170X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - CASP5 Asn162Shift N162Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATN1 His525Tyr H525Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FANCM Ile917Val I917V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10742 9.3092e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SLC10A1 Leu197Stop L197X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATP10A Ser640Shift S640Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR56 Met487Thr M487T not reviewed Insufficiently evaluated not reviewed unknown Array rs17379472 256 10758 0.0237962 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CDH16 Val529Shift V529Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NFAT5 Gly836Shift G836Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NUDT7 Glu8Stop E8X not reviewed Insufficiently evaluated not reviewed unknown Array 4 9638 0.000415023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - JPH3 Pro183Leu P183L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.063 Y Y 7 Y 2 N - - GPS2 Ser11Shift S11Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TOP2A Thr1343Shift T1343Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MPP2 Tyr384Shift Y384Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PPP1R9B Lys283Shift K283Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GGA3 Gln55Shift Q55Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPC1 Gly749Shift G749Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - GRIN3B Trp575Stop W575X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GAMT Pro8Arg P8R not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PCSK4 Pro174Shift P174Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAMTS10 Arg119Gln R119Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3814291 6 10742 0.000558555 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.214 Y Y 0 - 3 N - - DNM2 Asp429Val D429V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y - 8 Y 3 N - - NCAN Leu368Shift L368Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CRX Gly122Asp G122D not reviewed Insufficiently evaluated not reviewed unknown Array rs61748441 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.933 Y Y 4 Y 4 N - - CLEC11A Ala274Shift A274Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLEC11A Pro276Shift P276Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LPIN1 Gly582Arg G582R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.008 Y - 6 Y 1 N - - NT5C1B Ser176Stop S176X not reviewed Insufficiently evaluated not reviewed unknown Array rs61742596 319 9974 0.0319832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SOS1 Ala708Thr A708T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y Y 1 - 2 N - - MSH2 Lys228Glu K228E not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y Y 0 - 4 N - - ALMS1 Gly1103Asp G1103D not reviewed Insufficiently evaluated not reviewed unknown Array 14 9626 0.00145439 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DPP10 Thr103Shift T103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHRNA1 Glu411Asp E411D not reviewed Insufficiently evaluated not reviewed unknown Array rs61737716 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Trp23361Ser W23361S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Ala11067Thr A11067T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9464 0.00031699 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Glu6964Lys E6964K not reviewed Insufficiently evaluated not reviewed unknown Array 2 9876 0.000202511 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Glu5648Lys E5648K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9610 0.000104058 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AK130065 Glu85Shift E85Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCA12 Pro589Thr P589T not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.544 Y Y 4 Y 3 N - - PNKD Gly195Arg G195R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 6 Y 4 N - - CRYBA2 Glu19Stop E19X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL6A3 Ala830Ser A830S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - COL6A3 Ala807Thr A807T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TMC2 Arg129Shift R129Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - YTHDF1 Gly179Shift G179Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HUNK Gln677Shift Q677Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CLTCL1 Tyr1573Shift Y1573Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EP300 Asp908Shift D908Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ENOPH1 Arg105Stop R105X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ENPEP Leu690Shift L690Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NUDT6 Ile97Shift I97Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH5 Leu1007Phe L1007F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y 0 - 2 N - - VCAN Gln1814His Q1814H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y -1 - 2 N - - LARS Glu1050Shift E1050Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TCOF1 Glu1418Shift E1418Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs1141604 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ZFP2 Met95Shift M95Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C6ORF146 Gln62Stop Q62X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ALDH5A1 Ala237Ser A237S not reviewed Insufficiently evaluated not reviewed unknown Array rs62621664 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - HLA-H His105Tyr H105Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - HLA-H Asn116Lys N116K not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - HLA-H Lys213Arg K213R not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - HLA-H Gly225Val G225V not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PRRC2A Thr2103Shift T2103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYP21A2 Ser494Asn S494N not reviewed Insufficiently evaluated not reviewed unknown Array rs61732563 1 78 0.0128205 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - GUCA1B Arg63Stop R63X not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - C6ORF223 Ser193Stop S193X not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C1GALT1 Leu10Shift L10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH11 Leu27Shift L27Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 3 N - - COL1A2 Ala737Shift A737Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TRIM56 Val86Shift V86Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DOCK4 Val1033Shift V1033Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC10A5 Leu379Shift L379Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAD54B His138Shift H138Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNQ3 Phe534Shift F534Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - NPR2 Arg787Trp R787W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 7 Y 3 N - - FXN Leu12Shift L12Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - FXN Ser15Pro S15P not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.45 Y Y 3 - 3 N - - NAA35 Thr563Shift T563Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNPLA7 Ser8Shift S8Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WDR85 Ser166Shift S166Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZXDA Ala719Shift A719Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNFRSF14 Thr286Met T286M not reviewed Insufficiently evaluated not reviewed unknown Array rs2234162 122 10724 0.0113764 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRDM16 Leu522Phe L522F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - KLHL21 Pro274Leu P274L not reviewed Insufficiently evaluated not reviewed unknown Array rs2232455 92 10302 0.0089303 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.048 - - 7 Y 0 N - - PRDM2 Ser812Asn S812N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - SPEN Ser2306Del S2306Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CROCC Ala631Val A631V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10318 0.000193836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - 2 - 0 N - - CROCC Arg637Gln R637Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 62 0.0322581 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.353 - - 0 - 1 N - - OTUD3 Asn321Ser N321S not reviewed Insufficiently evaluated not reviewed unknown Array rs2298110 118 9948 0.0118617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF17 Arg327Ser R327S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LUZP1 Arg1061Trp R1061W not reviewed Insufficiently evaluated not reviewed unknown Array rs34961909 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - OPRD1 Ala309Thr A309T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10754 0.000929886 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LCK Arg45Gln R45Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - ADC Thr27Ser T27S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - -2 - 1 N - - SNIP1 Arg187Trp R187W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - ZNF643 Gly257Arg G257R not reviewed Insufficiently evaluated not reviewed unknown Array rs12407929 18 10758 0.00167317 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.167 - - 6 Y 0 N - - HIVEP3 Glu2332Gly E2332G not reviewed Insufficiently evaluated not reviewed unknown Array 156 9386 0.0166205 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC30 Phe99Ile F99I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 2 - 2 N - - NASP Glu676Asp E676D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - -2 - 0 N - - GPBP1L1 Leu329Val L329V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CMPK1 Glu107Lys E107K not reviewed Insufficiently evaluated not reviewed unknown Array rs72553946 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYDE2 Ser258Pro S258P not reviewed Insufficiently evaluated not reviewed unknown Array 4 9498 0.000421141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AGL Arg387Gln R387Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17121464 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - WDR47 Arg545Cys R545C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LCE2A Arg79Gln R79Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LELP1 Cys47Tyr C47Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.192 - - 6 Y 0 N - - S100A7 Gly99Asp G99D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - SHE Thr197Met T197M not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - PEAR1 Asp343Asn D343N not reviewed Insufficiently evaluated not reviewed unknown Array 134 10746 0.0124698 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.513 - - -1 - 1 N - - ADCY10 Cys1521Tyr C1521Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KIAA1614 Gly551Glu G551E not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.761 - - 6 Y 1 N - - KIAA1614 Thr750Ile T750I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10190 0.000392541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.191 - - 3 - 0 N - - TPR Pro2168Ser P2168S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9610 0.000520291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX721218 Thr96Ala T96A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ETNK2 Arg17Trp R17W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MDM4 Ile175Thr I175T not reviewed Insufficiently evaluated not reviewed unknown Array rs4252716 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - CR1 Thr1589Arg T1589R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPN14 ProGlu718ArgStop PE718RX not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - MOSC1 Cys246Ser C246S not reviewed Insufficiently evaluated not reviewed unknown Array rs3738178 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DUSP10 Ser70Pro S70P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 3 - 2 N - - CAPN8 Gln26Arg Q26R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - URB2 Gln1089Leu Q1089L not reviewed Insufficiently evaluated not reviewed unknown Array 1 50 0.02 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 5 Y 2 N - - DISC1 Pro586Ala P586A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 2 - 2 N - - PCNXL2 Val1752Met V1752M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 0 - 0 N - - CEP170 Gln599Lys Q599K not reviewed Insufficiently evaluated not reviewed unknown Array 66 9488 0.00695615 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - -2 - 0 N - - KIF26B Gln1323Arg Q1323R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.697 - - 0 - 1 N - - TFB2M Ser251Gly S251G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 2 - 1 N - - ITIH5 Asn910Ser N910S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.488 - - 0 - 1 N - - CCDC3 Pro266His P266H not reviewed Insufficiently evaluated not reviewed unknown Array 268 9954 0.0269238 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 5 Y 0 N - - ST8SIA6 Lys295Asn K295N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - NEBL Glu303Gly E303G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 6 Y 2 N - - THNSL1 Pro368Thr P368T not reviewed Insufficiently evaluated not reviewed unknown Array rs41279892 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR158 Gly560Val G560V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - OGDHL Ala876Val A876V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANK3 Thr3970Asn T3970N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYPN Met1035Val M1035V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - H2AFY2 Ala343Ser A343S not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANXA11 Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CH25H Cys3Phe C3F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10736 0.000279433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.63 - - 4 Y 1 N - - MARCH5 Val85Ile V85I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDZD7 Arg45Lys R45K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POLL Leu565Pro L565P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.951 - - 7 Y 2 N - - HPS6 Gly211Ala G211A not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.16 - Y 1 - 1 N - - PRDX3 Val129Ala V129A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - TACC2 Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - PPP2R2D Arg303His R303H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Leu1673Arg L1673R not reviewed Insufficiently evaluated not reviewed unknown Array rs36101709 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - MUC2 Thr1541Ser T1541S not reviewed Insufficiently evaluated not reviewed unknown Array rs12804904 14 8072 0.00173439 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MUC2 Ser1817Thr S1817T not reviewed Insufficiently evaluated not reviewed unknown Array rs56282171 312 10660 0.0292683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYT8 Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10724 9.3248e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C11ORF21 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 32 3234 0.00989487 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NUP98 Asp1757Val D1757V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIM21 Val50Ile V50I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10528 9.4984e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR51B5 Val27Ile V27I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UBQLNL Met429Thr M429T not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - TRIM6-TRIM34 Arg97Gln R97Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR52W1 Arg308Gln R308Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OVCH2 Arg504Trp R504W not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - PRDM11 Ile139Ser I139S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRP4 Asp1142Glu D1142E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNKS1BP1 Val1521Met V1521M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNKS1BP1 Arg427Gln R427Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10752 0.00120908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC43A3 Val195Ala V195A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - OR6Q1 Asp125Val D125V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR5B3 Ile35Phe I35F not reviewed Insufficiently evaluated not reviewed unknown Array rs17152659 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - OR5B2 Thr107Met T107M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 2 - 2 N - - OR5B21 Leu37Met L37M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - MS4A4A Met85Thr M85T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 2 - 2 N - - SLC22A25 Glu298Gln E298Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - -2 - 2 N - - GAB2 Gly135Val G135V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAT3 Asn2293Ser N2293S not reviewed Insufficiently evaluated not reviewed unknown Array rs16918105 32 9766 0.00327667 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - FUT4 Gln256Arg Q256R not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP20 Arg887Trp R887W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - APOA4 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - VSIG2 Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array 214 10758 0.0198922 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CACNA2D4 Asp916Asn D916N not reviewed Insufficiently evaluated not reviewed unknown Array rs62621429 206 10136 0.0203236 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.486 - - -1 - 1 N - - LAG3 Pro118Ser P118S not reviewed Insufficiently evaluated not reviewed unknown Array 5 4730 0.00105708 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LAG3 Thr310Ser T310S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CD4 Arg354Gln R354Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34435605 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP5 Asp158Asn D158N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - -1 - 0 N - - TAS2R43 TyrPro271CysSer YP271CS not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAS2R43 Arg268Gly R268G not reviewed Insufficiently evaluated not reviewed unknown Array 1135 10062 0.112801 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TAS2R43 Lys265Gln K265Q not reviewed Insufficiently evaluated not reviewed unknown Array 1027 10120 0.101482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GSG1 Arg94Trp R94W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 7 Y 0 N - - PDZRN4 Glu146Lys E146K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO6 His428Tyr H428Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -1 - 0 N - - CR591575 Asp13His D13H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MLL2 GlnGln3755HisLys QQ3755HK not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MLL2 Asn2085Lys N2085K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MLL2 Pro719Leu P719L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10104 0.000692794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FMNL3 Met26Ile M26I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - -1 - 0 N - - SLC11A2 Ile298Thr I298T not reviewed Insufficiently evaluated not reviewed unknown Array rs17216051 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.468 - - 3 - 1 N - - LETMD1 Leu153Met L153M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -3 - 2 N - - KRT86 Lys396Arg K396R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - -3 - 3 N - - CSAD Asp382Asn D382N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 0 N - - HOXC11 Ala222Val A222V not reviewed Insufficiently evaluated not reviewed unknown Array rs12427129 337 7106 0.0474247 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HOXC8 Ala106Ser A106S not reviewed Insufficiently evaluated not reviewed unknown Array rs2083837 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR6C65 Leu13Gln L13Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12424958 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.039 - - 5 Y 0 N - - STAT2 Thr448Met T448M not reviewed Insufficiently evaluated not reviewed unknown Array rs2066815 6 10758 0.000557724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - TIMELESS Ala925Thr A925T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.294 - - 1 - 1 N - - LGR5 Ser501Arg S501R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 3 - 0 N - - ZFC3H1 Lys1807Arg K1807R not reviewed Insufficiently evaluated not reviewed unknown Array rs11541286 553 9450 0.0585185 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.92 - - -3 - 1 N - - PPFIA2 Ala1151Thr A1151T not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MGAT4C Phe335Leu F335L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KITLG Leu14Pro L14P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 7 Y 2 N - - EPYC Ser150Cys S150C not reviewed Insufficiently evaluated not reviewed unknown Array rs17784152 194 10758 0.0180331 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - LTA4H Ala471Thr A471T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UHRF1BP1L His831Asn H831N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - SART3 Ala654Asp A654D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - C12ORF34 Ala140Thr A140T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10648 0.000187828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRAP Ala212Val A212V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDSL Leu291Ile L291I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - -2 - 2 N - - MED13L Ala1545Pro A1545P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RNF34 Arg177His R177H not reviewed Insufficiently evaluated not reviewed unknown Array rs41507449 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DIABLO Gln20Pro Q20P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.837 - - 4 Y 1 N - - HIP1R Leu648Val L648V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SFSWAP Arg857Trp R857W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSPH1 Leu435Val L435V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - FRY Ala2090Val A2090V not reviewed Insufficiently evaluated not reviewed unknown Array rs73169136 83 10038 0.00826858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STOML3 Ala168Thr A168T not reviewed Insufficiently evaluated not reviewed unknown Array 91 10758 0.00845882 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - KBTBD7 SerSerSerSer321Del SSSS321Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDH8 Thr367Ala T367A not reviewed Insufficiently evaluated not reviewed unknown Array rs9596693 297 8954 0.0331695 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TBC1D4 Thr752Ala T752A not reviewed Insufficiently evaluated not reviewed unknown Array 20 10152 0.00197006 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - ANKRD10 Glu335Del E335Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR4K1 Val277Ile V277I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF106 Ser729Pro S729P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF106 Ala212Thr A212T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF138 Thr87Ile T87I not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF101 Leu550Met L550M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ARID4A Asn1052Ser N1052S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYNE2 Ile1301Thr I1301T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYNE2 Leu1302Arg L1302R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 6 Y 1 N - - SYNE2 Ile3437Thr I3437T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF148 Val154Ile V154I not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NRXN3 Val585Ile V585I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIF26A Arg686Cys R686C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - KIF26A Ser1134Ile S1134I not reviewed Insufficiently evaluated not reviewed unknown Array 5 9384 0.000532821 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.429 - - 5 Y 1 N - - UBR1 Ala273Val A273V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - BX648577 Stop122Arg X122R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LIPC Gln355Arg Q355R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FAM63B Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array 4 9340 0.000428265 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - VPS13C Arg2482His R2482H not reviewed Insufficiently evaluated not reviewed unknown Array 53 10756 0.00492748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SLC24A1 Trp922Arg W922R not reviewed Insufficiently evaluated not reviewed unknown Array 36 10522 0.0034214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STRA6 Leu464Arg L464R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 6 Y 2 N - - CYP1A2 Val75Ile V75I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - -4 - 2 N - - SH2D7 Arg144Gln R144Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - C15ORF42 Arg301Gln R301Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 9740 0.000513347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGMA Val294Ile V294I not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDR24 Tyr677Cys Y677C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MSLN Val475Ile V475I not reviewed Insufficiently evaluated not reviewed unknown Array rs34926266 60 10696 0.00560957 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CACNA1H Val1005Ala V1005A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - BAIAP3 Met318Arg M318R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - IFT140 Met1402Thr M1402T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.879 - - 2 - 2 N - - SRRM2 Arg1863Cys R1863C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NAT15 His196Tyr H196Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.391 - - -1 - 1 N - - DNASE1 Pro154Ala P154A not reviewed Insufficiently evaluated not reviewed unknown Array rs1799891 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 2 - 1 N - - CORO7 Arg178Gln R178Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34245892 50 10756 0.00464857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPL Met763Thr M763T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BX537921 Cys59Arg C59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TXNDC11 Ala609Val A609V not reviewed Insufficiently evaluated not reviewed unknown Array rs17674449 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDILT Gly469Ser G469S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH3 Arg1507Trp R1507W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - VWA3A Phe104Val F104V not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TNRC6A Met559Val M559V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KIAA0556 Glu1260Lys E1260K not reviewed Insufficiently evaluated not reviewed unknown Array rs61742593 286 10758 0.0265849 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TBC1D10B Arg112Lys R112K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FBRS Gly358Ser G358S not reviewed Insufficiently evaluated not reviewed unknown Array rs61738568 114 10706 0.0106482 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCKDK Ile180Thr I180T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - 3 - 1 N - - ITGAD Arg828Trp R828W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HEATR3 Thr256Ala T256A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 1 - 1 N - - CCDC113 Ser141Asn S141N not reviewed Insufficiently evaluated not reviewed unknown Array rs34121740 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXOC3L Ala208Val A208V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DPEP3 Arg191Cys R191C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DUS2L Arg440Trp R440W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - NFATC3 Ser269Thr S269T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - PDPR Ile682Leu I682L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TXNL4B Met55Leu M55L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - -3 - 2 N - - PKD1L2 Arg1302Gln R1302Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0182 Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP88 Asp581Gly D581G not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 4 Y 2 N - - NLRP1 Gly106Arg G106R not reviewed Insufficiently evaluated not reviewed unknown Array rs72827640 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.035 - - 6 Y 0 N - - KIAA0753 Lys586Glu K586E not reviewed Insufficiently evaluated not reviewed unknown Array rs61735441 72 9858 0.00730371 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - YBX2 Pro80Gln P80Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 4 Y 0 N - - ALOX15B Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - C17ORF68 Gly721Ala G721A not reviewed Insufficiently evaluated not reviewed unknown Array rs62620189 133 9896 0.0134398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF68 Gly414Ala G414A not reviewed Insufficiently evaluated not reviewed unknown Array rs62624978 152 10248 0.0148322 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPN2 Arg252Gly R252G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PIPOX Gly238Ala G238A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - UTP6 Arg170His R170H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - KRT26 Glu395Gln E395Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRT26 Gln287Arg Q287R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEOX1 His85Pro H85P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - GPATCH8 Arg864His R864H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAP3K14 Cys174Tyr C174Y not reviewed Insufficiently evaluated not reviewed unknown Array 3 10026 0.000299222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBKBP1 Asn275Ser N275S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - ITGA3 Arg1021Trp R1021W not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - PPP1R9B Val520Ile V520I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EPX Arg419Gln R419Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - KCNH6 Ser723Leu S723L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - 6 Y 0 N - - SLC16A5 Gly186Arg G186R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LLGL2 Val259Leu V259L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - SOCS3 Ala164Asp A164D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 5 Y 0 N - - LGALS3BP Arg436Pro R436P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.946 - - 5 Y 2 N - - CCDC40 Val1114Met V1114M not reviewed Insufficiently evaluated not reviewed unknown Array rs61740509 22 10254 0.0021455 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - RNF213 Glu977Asp E977D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AATK Ala819Gly A819G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 1 - 1 N - - BAHCC1 Arg2512Gln R2512Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4969439 196 10436 0.0187811 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FN3KRP Lys182Arg K182R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - MYOM1 Ser579Phe S579F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9860 0.000101419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RALBP1 Ala617Val A617V not reviewed Insufficiently evaluated not reviewed unknown Array rs35867116 59 10722 0.0055027 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BX649021 Leu621Ser L621S not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - ABCA7 Ser1629Leu S1629L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 6 Y 2 N - - SCAMP4 Pro199Leu P199L not reviewed Insufficiently evaluated not reviewed unknown Array 151 10086 0.0149712 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - NM_152988 Ala8Ser A8S not reviewed Insufficiently evaluated not reviewed unknown Array 151 7076 0.0213397 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACER1 Val157Met V157M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.347 - - 0 - 1 N - - ACTL9 Arg271Pro R271P not reviewed Insufficiently evaluated not reviewed unknown Array rs73507819 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - MUC16 Val12699Ile V12699I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC16 Gly12695Val G12695V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC16 Leu12392Phe L12392F not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Val12388Ile V12388I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9844 0.000101584 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC16 Met7299Val M7299V not reviewed Insufficiently evaluated not reviewed unknown Array 14 9830 0.00142421 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TYK2 Arg703Trp R703W not reviewed Insufficiently evaluated not reviewed unknown Array rs55882956 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 7 Y 2 N - - ZNF442 Arg100His R100H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.089 - - 1 - 0 N - - FARSA Val376Leu V376L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - CALR Glu381Ala E381A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10750 0.000186046 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CD97 Ala737Val A737V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKN1 Leu561Ile L561I not reviewed Insufficiently evaluated not reviewed unknown Array rs34309238 2 10302 0.000194137 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SUGP1 Ser248Leu S248L not reviewed Insufficiently evaluated not reviewed unknown Array rs1978144 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - ZNF93 Lys398Val K398V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPSA Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13343419 2 80 0.025 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF12 Glu126Lys E126K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSHZ3 Pro687Leu P687L not reviewed Insufficiently evaluated not reviewed unknown Array rs4805664 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 7 Y 2 N - - TSHZ3 Pro48Leu P48L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9938 0.000100623 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.423 - - 7 Y 1 N - - TDRD12 Lys397Arg K397R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - -3 - 0 N - - TDRD12 Ala825Thr A825T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.159 - - 1 - 0 N - - ZNF345 Ala234Gly A234G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIPK4 Ser406Arg S406R not reviewed Insufficiently evaluated not reviewed unknown Array rs56094851 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 3 - 1 N - - C19ORF54 Phe38Ser F38S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC97 Ala72Val A72V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - GSK3A Val104Ile V104I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.079 - - -4 - 0 N - - PHLDB3 Arg194Cys R194C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF283 Arg358Cys R358C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10664 0.00028132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RSPH6A Glu711Del E711Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYMPK Arg571Gln R571Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10742 0.000279277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 0 - 0 N - - DHX34 Gly924Cys G924C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIGLEC11 Ser21Thr S21T not reviewed Insufficiently evaluated not reviewed unknown Array 2 118 0.0169492 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF577 Ser266Arg S266R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF808 Pro252Ile P252I not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF582 Arg69Thr R69T not reviewed Insufficiently evaluated not reviewed unknown Array rs11883260 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 3 - 1 N - - ZNF667 Cys100Gly C100G not reviewed Insufficiently evaluated not reviewed unknown Array rs61740677 24 10634 0.00225691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 7 Y 0 N - - ZNF543 Thr495Met T495M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 2 - 1 N - - ZNF749 Gly370Ser G370S not reviewed Insufficiently evaluated not reviewed unknown Array rs61997241 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC27A5 His274Tyr H274Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.724 - - -1 - 1 N - - WDR35 Val867Phe V867F not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - APOB Asn1914Ser N1914S not reviewed Insufficiently evaluated not reviewed unknown Array rs1801699 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ADCY8 Val123Met V123M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PREB Pro279Ser P279S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 3 - 2 N - - GPN1 His318Gln H318Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF56 Gln264Lys Q264K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEKHH2 Gly851Ser G851S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 2 - 2 N - - SLC3A1 Ala492Thr A492T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - C2ORF63 Thr84Ile T84I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XPO1 Val784Ile V784I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - -4 - 0 N - - NR_003131 Phe162Leu F162L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF7 Arg41Gln R41Q not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALMS1P Arg120Trp R120W not reviewed Insufficiently evaluated not reviewed unknown Array 20 3234 0.00618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLX2 Ala185Thr A185T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 1 - 0 N - - POLR1A Arg158Pro R158P not reviewed Insufficiently evaluated not reviewed unknown Array 50 9672 0.00516956 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IMMT Asp496Val D496V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - GPAT2 Arg637Trp R637W not reviewed Insufficiently evaluated not reviewed unknown Array 8 10014 0.000798881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 7 Y 2 N - - ARID5A Gly32Val G32V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C2ORF29 Pro272Arg P272R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MYO7B Ser336Pro S336P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 3 - 0 N - - TUBA3E Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - PTPN18 Asp352Asn D352N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRP1B Arg2219His R2219H not reviewed Insufficiently evaluated not reviewed unknown Array rs34694228 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARHGAP15 Asn62Ser N62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - FAP Thr669Lys T669K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SCN3A Gly1862Cys G1862C not reviewed Insufficiently evaluated not reviewed unknown Array rs41265137 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.893 - - 7 Y 2 N - - RAPGEF4 Asp100Gly D100G not reviewed Insufficiently evaluated not reviewed unknown Array 1 9674 0.000103369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - AOX1 Ile598Asn I598N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FASTKD2 Gln228His Q228H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SMARCAL1 Thr592Met T592M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.186 - Y 2 - 1 N - - RUFY4 Val146Phe V146F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10228 0.000195541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AAMP Ile250Val I250V not reviewed Insufficiently evaluated not reviewed unknown Array rs2305835 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - FAM134A Val336Ile V336I not reviewed Insufficiently evaluated not reviewed unknown Array rs61730145 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.181 - - -4 - 0 N - - ABCB6 Arg247Cys R247C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 8 Y 0 N - - SLC19A3 Met492Thr M492T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ARMC9 Arg222His R222H not reviewed Insufficiently evaluated not reviewed unknown Array rs3752780 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 1 - 0 N - - GIGYF2 Glu856Ala E856A not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATG16L1 Ser562Asn S562N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IQCA1 Ala401Thr A401T not reviewed Insufficiently evaluated not reviewed unknown Array 37 9954 0.0037171 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC047423 Thr123Ile T123I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKMY1 Glu469Gly E469G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ANO7 Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - LRRN4 Phe349Ile F349I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 2 - 2 N - - PAK7 Leu712Val L712V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.193 - - 0 - 0 N - - RALGAPA2 Val655Ile V655I not reviewed Insufficiently evaluated not reviewed unknown Array 5 9782 0.000511142 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - PAX1 Asp228Asn D228N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FOXA2 Pro419Thr P419T not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - PRNP Arg332Cys R332C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - BPI Lys308Gln K308Q not reviewed Insufficiently evaluated not reviewed unknown Array rs5743513 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CHD6 Arg2072Gln R2072Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - C20ORF165 Arg199Gln R199Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PREX1 Arg1271Trp R1271W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - ZNFX1 Lys674Asn K674N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 1 - 0 N - - PPP4R1L Arg321His R321H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LSM14B Gly187Ser G187S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10294 0.00359433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - GTPBP5 His93Arg H93R not reviewed Insufficiently evaluated not reviewed unknown Array rs11700220 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 1 - 2 N - - LAMA5 Arg2321Gln R2321Q not reviewed Insufficiently evaluated not reviewed unknown Array 85 10530 0.00807217 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - DIDO1 Ala793Gly A793G not reviewed Insufficiently evaluated not reviewed unknown Array rs750077 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPBWR2 Pro42Leu P42L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 7 Y 0 N - - MYT1 Arg393Cys R393C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.914 - - 8 Y 2 N - - GCFC1 Thr424Ile T424I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 3 - 0 N - - DOPEY2 Leu2232Val L2232V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - ZNF295 Asp473Del D473Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C21ORF2 Ala54Glu A54E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-10 Pro73Ser P73S not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP10-10 Tyr75Cys Y75C not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRMT2 Val393Phe V393F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - 3 - 0 N - - RAB36 Arg303Trp R303W not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.896 - - 7 Y 2 N - - BCR Arg67His R67H not reviewed Insufficiently evaluated not reviewed unknown Array rs12483810 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCR Tyr910Cys Y910C not reviewed Insufficiently evaluated not reviewed unknown Array rs35537221 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KREMEN1 Glu325Gly E325G not reviewed Insufficiently evaluated not reviewed unknown Array rs16987136 5 9898 0.000505152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RFPL1 Arg174Cys R174C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.593 - - 8 Y 1 N - - MTMR3 Ser662Cys S662C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - CCDC157 Pro55Leu P55L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLA2G3 Arg303Gln R303Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 0 - 0 N - - APOBEC3G Val9Met V9M not reviewed Insufficiently evaluated not reviewed unknown Array rs56033202 37 10750 0.00344186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - POLR3H Pro15Ala P15A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.906 - - 2 - 2 N - - PRR5-ARHGAP8 Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TUBGCP6 Ala1408Val A1408V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MAPK11 Ala306Thr A306T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM116B Glu410Lys E410K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTN6 Tyr842His Y842H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.864 - - -1 - 2 N - - CNTN4 Ala587Ser A587S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THUMPD3 Ser242Leu S242L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - FGD5 Gly1011His G1011H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KAT2B Tyr189Cys Y189C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 6 Y 0 N - - FYCO1 Arg1140Gln R1140Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41289620 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - FYCO1 Arg615Trp R615W not reviewed Insufficiently evaluated not reviewed unknown Array 86 10748 0.00800149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - IP6K1 Arg114Trp R114W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 7 Y 2 N - - DNAH1 Ile1273Thr I1273T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC66 Gln351Arg Q351R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRMD4B Arg763Gly R763G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_018029 Met216Arg M216R not reviewed Insufficiently evaluated not reviewed unknown Array rs2231927 5 10012 0.0004994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CD200R1 Ser334Thr S334T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MYLK Gln133His Q133H not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.81 - - -1 - 1 N - - SLC12A8 Arg449Gly R449G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHST13 Ala281Val A281V not reviewed Insufficiently evaluated not reviewed unknown Array 1 80 0.0125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - MCM2 Thr465Ala T465A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - PLXND1 Arg1169Cys R1169C not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - COL6A5 Arg1936Trp R1936W not reviewed Insufficiently evaluated not reviewed unknown Array 6 3234 0.00185529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - ZBBX Ala284Val A284V not reviewed Insufficiently evaluated not reviewed unknown Array 33 9594 0.00343965 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCLD Pro514Leu P514L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 7 Y 2 N - - HRG His207Arg H207R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 1 - 2 N - - ATP13A3 Ile153Val I153V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OTOP1 Arg420His R420H not reviewed Insufficiently evaluated not reviewed unknown Array 2 96 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - OTOP1 Gly417Asp G417D not reviewed Insufficiently evaluated not reviewed unknown Array 2 94 0.0212766 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 4 Y 0 N - - CCDC96 Arg241Ser R241S not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.105 - - 3 - 0 N - - AX746755 Gly146Val G146V not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACOX3 Asp659Asn D659N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.435 - - -1 - 1 N - - KIAA1211 Pro551Leu P551L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - SRP72 His229Arg H229R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.821 - - 1 - 1 N - - UGT2B4 Arg469Cys R469C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.107 - - 8 Y 0 N - - SMR3A Pro66Leu P66L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM190A Met555Val M555V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9572 0.000522356 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - UNC5C Pro689Ala P689A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MANBA Ile358Val I358V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - -4 - 3 N - - CENPE Arg1930His R1930H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX746903 Cys45Arg C45R not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPC3 Ser823Gly S823G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 2 - 1 N - - RNF150 Gln84His Q84H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10686 0.00018716 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.216 - - -1 - 1 N - - SH3D19 Leu406Pro L406P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA0922 Thr991Ala T991A not reviewed Insufficiently evaluated not reviewed unknown Array rs36023829 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TLR2 Thr411Ile T411I not reviewed Insufficiently evaluated not reviewed unknown Array rs5743699 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.897 - - 3 - 2 N - - C4ORF45 Arg134His R134H not reviewed Insufficiently evaluated not reviewed unknown Array rs10517695 74 9834 0.00752491 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANXA10 Ala50Glu A50E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 3 - 0 N - - SPEF2 His83Arg H83R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.337 - - 1 - 1 N - - WDR70 Ser223Phe S223F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.812 - - 5 Y 1 N - - PIK3R1 Lys430Thr K430T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.63 - - 3 - 1 N - - CMYA5 Val616Ile V616I not reviewed Insufficiently evaluated not reviewed unknown Array rs35928567 55 9874 0.00557018 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 1 N - - THBS4 Val737Ile V737I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229398 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.71 - - -4 - 1 N - - ANKRD34B Lys408Glu K408E not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM232 Lys7Arg K7R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZRSR1 Arg486His R486H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC112 Arg393His R393H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB7 Pro469Ser P469S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - STK32A Asn19Asp N19D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.885 - - -1 - 2 N - - SOX30 Ala188Arg A188R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLINT1 Ser459Thr S459T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - -2 - 1 N - - HK3 Pro232Leu P232L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - SQSTM1 Val255Leu V255L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.687 Y - 0 - 2 N - - GFPT2 Cys235Gly C235G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HUS1B Arg108Pro R108P not reviewed Insufficiently evaluated not reviewed unknown Array 6 10696 0.000560957 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.817 - - 5 Y 1 N - - FAM136B Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array rs61995693 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIPK1 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PECI Thr295Ser T295S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC133670 Arg9Trp R9W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CAGE1 Val402Leu V402L not reviewed Insufficiently evaluated not reviewed unknown Array rs34744890 40 9524 0.00419992 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAGE1 Asp333Gly D333G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MRS2 Pro412Ser P412S not reviewed Insufficiently evaluated not reviewed unknown Array rs35261004 141 10758 0.0131065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 3 - 2 N - - LRRC16A Ile16Val I16V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR2W1 Asp269Val D269V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 8 Y 2 N - - OR12D2 Cys70Phe C70F not reviewed Insufficiently evaluated not reviewed unknown Array rs36210740 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GABBR1 Arg955Gln R955Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 7498 0.000800213 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - TRIM31 Ala279Gly A279G not reviewed Insufficiently evaluated not reviewed unknown Array 10 7522 0.00132943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.174 - - 1 - 0 N - - TRIM10 Arg267Gln R267Q not reviewed Insufficiently evaluated not reviewed unknown Array 65 7514 0.00865052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - MDC1 Phe214Leu F214L not reviewed Insufficiently evaluated not reviewed unknown Array 5 7490 0.000667556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - PSORS1C2 Asn4Ser N4S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APOM Thr31Ala T31A not reviewed Insufficiently evaluated not reviewed unknown Array 28 7520 0.0037234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - LY6G6F Ala63Val A63V not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LY6G6C Ala75Gly A75G not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.26 - - 1 - 1 N - - VARS Val1055Ile V1055I not reviewed Insufficiently evaluated not reviewed unknown Array rs5030798 28 7518 0.00372439 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -4 - 0 N - - SLC44A4 Gln386Glu Q386E not reviewed Insufficiently evaluated not reviewed unknown Array 28 7516 0.00372539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNXB Ile2711Thr I2711T not reviewed Insufficiently evaluated not reviewed unknown Array rs28361051 45 6616 0.00680169 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - TNXB Val1903Ala V1903A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - WDR46 Val322Ile V322I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -4 - 2 N - - CUTA Ser26Pro S26P not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAH8 Glu1419Asp E1419D not reviewed Insufficiently evaluated not reviewed unknown Array rs61757219 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - -2 - 0 N - - TMEM63B Leu74Phe L74F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - C6ORF142 His803Arg H803R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL12A1 Thr40Ala T40A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 1 - 1 N - - MYO6 Tyr374His Y374H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732664 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - IRAK1BP1 Arg31Gly R31G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOPEY1 Asn1835Lys N1835K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - KIAA1009 Lys643Gln K643Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - -2 - 2 N - - BACH2 Arg311Gln R311Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 0 - 2 N - - MMS22L Ala1090Ser A1090S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.251 - - -1 - 1 N - - CDK19 Thr31Ser T31S not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 2 N - - TRAF3IP2 Pro335Leu P335L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GPRC6A Asp401Tyr D401Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - ROS1 Pro1659Thr P1659T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - TIAM2 Asn1382Thr N1382T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 1 - 0 N - - SYTL3 Glu60Lys E60K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 0 - 0 N - - MICALL2 Asn715His N715H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10706 0.000560433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.509 - - 0 - 1 N - - TNRC18 Pro502Leu P502L not reviewed Insufficiently evaluated not reviewed unknown Array 71 9292 0.00764098 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.126 - - 7 Y 0 N - - COL28A1 Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - -4 - 0 N - - THSD7A Thr642Met T642M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10490 0.000285986 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.144 - - 2 - 0 N - - PRPS1L1 Glu26Gln E26Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MACC1 Glu728Ala E728A not reviewed Insufficiently evaluated not reviewed unknown Array rs12671170 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - MACC1 Arg10Trp R10W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK308991 Ile209Val I209V not reviewed Insufficiently evaluated not reviewed unknown Array 41 3232 0.0126856 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPNMB Asp433Glu D433E not reviewed Insufficiently evaluated not reviewed unknown Array rs34824876 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C7ORF30 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array rs61734321 6 9728 0.000616776 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX748054 Ala94Thr A94T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001126493 Asp9Glu D9E not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCRN1 Arg64Thr R64T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPSR1 Ser47Tyr S47Y not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - 5 Y 0 N - - CR597893 Gly14Glu G14E not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCA13 His3554Pro H3554P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STYXL1 Val53Met V53M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZP3 Ala183Thr A183T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCLO Ile4499Val I4499V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AKAP9 Ser1667Pro S1667P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP1R9A Val711Asn V711N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - VGF Gln299Lys Q299K not reviewed Insufficiently evaluated not reviewed unknown Array 7 7980 0.000877192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FSCN3 Leu224Arg L224R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CHCHD3 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array rs17353298 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC35B4 Arg26Leu R26L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - DENND2A Phe337Ser F337S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC61 Arg31Trp R31W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GIMAP5 Gly158Asp G158D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.399 - - 4 Y 1 N - - ASB10 Val131Ala V131A not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.288 - - 2 - 1 N - - DLGAP2 Thr293Ala T293A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYOM2 Pro596Thr P596T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AX747124 Met128Val M128V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AB209502 Glu375Lys E375K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BIN3 Arg91Gln R91Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 0 - 1 N - - ADAM28 Gly542Trp G542W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MBOAT4 Glu282Lys E282K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - CHRNA6 Arg96His R96H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.89 - - 1 - 2 N - - SOX17 Leu156Pro L156P not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - CPA6 Arg311Gln R311Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TRPA1 Leu882Del L882Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PAG1 Val151Ala V151A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CNBD1 Arg208Pro R208P not reviewed Insufficiently evaluated not reviewed unknown Array 3 9550 0.000314136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - KIAA1429 Ala1355Thr A1355T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MATN2 Met942Val M942V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.274 - - 0 - 1 N - - CSMD3 Ser3091Pro S3091P not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - TRPS1 Ile1235Val I1235V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - FER1L6 Ser1114Leu S1114L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ADCY8 Leu577Pro L577P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - KCNV2 Ala331Ser A331S not reviewed Insufficiently evaluated not reviewed unknown Array 1 54 0.0185185 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA1797 Glu142Val E142V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.41 - - 5 Y 1 N - - KIAA1161 Arg198Ser R198S not reviewed Insufficiently evaluated not reviewed unknown Array rs12377 261 10232 0.0255082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PIGO Leu428Gln L428Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - UNC13B Val1214Ile V1214I not reviewed Insufficiently evaluated not reviewed unknown Array rs41315995 140 10758 0.0130136 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - -4 - 1 N - - C9ORF103 Leu40Met L40M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GADD45G Asp10Gly D10G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - NFIL3 Val9Ile V9I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANP32B Asp130Ala D130A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 5 Y 0 N - - ABCA1 Leu1408Phe L1408F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - AKNA Glu665Asp E665D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - -2 - 0 N - - CRB2 Gly890Arg G890R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8960 0.000111607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - TTC16 Cys171Arg C171R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 8 Y 2 N - - AL834139 Lys177Asn K177N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AL834139 Gly629Glu G629E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AL834139 Val850Ile V850I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAMTSL2 Arg384Trp R384W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.692 - Y 7 Y 2 N - - ABCA2 Gln332His Q332H not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAN1B1 Arg196His R196H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MAN1B1 Pro197Leu P197L not reviewed Insufficiently evaluated not reviewed unknown Array rs61744585 119 10758 0.0110615 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - EXD3 Gly150Asp G150D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 4 Y 2 N - - AKAP17A Thr639Met T639M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10590 9.4428e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - AKAP17A Pro641Leu P641L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - MOSPD2 Ser240Asn S240N not reviewed Insufficiently evaluated not reviewed unknown Array rs35164803 222 8761 0.0253396 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.902 - - 0 - 2 N - - NHS His923Leu H923L not reviewed Insufficiently evaluated not reviewed unknown Array 7 8761 0.000798995 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - GPKOW Ser4Cys S4C not reviewed Insufficiently evaluated not reviewed unknown Array rs34513173 4 8756 0.000456829 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.059 - - 3 - 0 N - - SHROOM4 Leu1367Phe L1367F not reviewed Insufficiently evaluated not reviewed unknown Array rs28362302 21 8761 0.00239699 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZXDA His141Arg H141R not reviewed Insufficiently evaluated not reviewed unknown Array rs56863346 78 7288 0.0107025 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FATE1 Pro85Leu P85L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.88 - - 7 Y 2 N - - PEX10 Val249Leu V249L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CROCC Arg809Stop R809X not reviewed Insufficiently evaluated not reviewed unknown Array 6 10552 0.000568612 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PODN Pro62Shift P62Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001093734 Ser100Shift S100Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX747534 Thr111Shift T111Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Ala2678Ser A2678S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FLG Val1833Ile V1833I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FLG Asp1092Ala D1092A not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - FCRL4 Arg166Stop R166X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HMCN1 Gly5351Arg G5351R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y - 6 Y 3 N - - PDC Arg67Gln R67Q not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.756 Y Y 0 - 3 N - - KCNT2 Ala501Shift A501Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CAMSAP1L1 His571Shift H571Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - USH2A Ala1009Val A1009V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.054 Y Y 2 - 2 N - - ARHGAP21 Asn24Shift N24Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VENTX Gln181Stop Q181X not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MUC5AC Pro4073Shift P4073Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 44 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC22A18AS Glu3Shift E3Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRP5 Asn499Ser N499S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.384 Y Y 0 - 3 N - - IGHMBP2 Ala869Shift A869Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ANKK1 Gln657Stop Q657X not reviewed Insufficiently evaluated not reviewed unknown Array 13 10352 0.0012558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MFRP Leu79Shift L79Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR10G7 Ser192Stop S192X not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SYT10 Ile52Shift I52Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DAO Arg155Stop R155X not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MPHOSPH9 Gln266Shift Q266Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SACS Glu2350Gly E2350G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - TNFSF11 Ser80Leu S80L not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.983 Y - 6 Y 3 N - - RB1 Ala525Gly A525G not reviewed Insufficiently evaluated not reviewed unknown Array rs4151539 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.811 Y Y 1 - 3 N - - MLNR Leu202Shift L202Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 66 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JPH4 Ala502Shift A502Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SERPINA1 Val326Ile V326I not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.011 Y Y -4 - 2 N - - C14ORF180 Arg147Shift R147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HERC2 Asp4171Shift D4171Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPTBN5 Thr570Shift T570Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG11 Pro424Thr P424T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - GLDN Glu191Shift E191Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C16ORF71 Arg145Shift R145Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs17137230 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYH11 Ala1209Thr A1209T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BC160930 Pro56Shift P56Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 32 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF107 Gln46Shift Q46Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHRNE Ser163Trp S163W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - TP53 Thr312Ser T312S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - UNC45B Arg129Stop R129X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL1A1 Ala625Thr A625T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ITGB4 Leu901Phe L901F not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.503 Y Y 0 - 3 N - - NPC1 Arg411Gln R411Q not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AF303374 Cys89Stop C89X not reviewed Insufficiently evaluated not reviewed unknown Array 59 7820 0.00754476 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RAX2 Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 1 8728 0.000114573 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 8 Y 3 N - - TNFAIP8L1 Asp152Shift D152Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HOOK2 Lys530Shift K530Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RYR1 Met3081Thr M3081T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.95 Y Y 2 - 4 N - - ZNF616 Arg479Stop R479X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TNNT1 Glu12Gly E12G not reviewed Insufficiently evaluated not reviewed unknown Array 755 10756 0.0701934 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 2 N - - PEG3 Glu1362Shift E1362Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDC42EP3 Glu222Shift E222Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CR624999 Asp5Shift D5Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C2ORF63 Arg115Shift R115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C2ORF63 Cys17Shift C17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALMS1 Asp2250Gly D2250G not reviewed Insufficiently evaluated not reviewed unknown Array rs28730855 49 9542 0.00513519 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - CNGA3 Gln118Arg Q118R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.374 Y Y 0 - 3 N - - MERTK Pro36Leu P36L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.442 Y - 7 Y 2 N - - NEB Asp5273His D5273H not reviewed Insufficiently evaluated not reviewed unknown Array 7 9640 0.000726141 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CHRNA1 Asp215Asn D215N not reviewed Insufficiently evaluated not reviewed unknown Array 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - TTN Thr26870Arg T26870R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Met26469Arg M26469R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TTN Ala22284Val A22284V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr4043Met T4043M not reviewed Insufficiently evaluated not reviewed unknown Array 12 9834 0.00122026 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CPS1 Thr544Ser T544S not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y -2 - 4 N - - CPS1 SerVal989AsnLeu SV989NL not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL4A3 Pro25Ser P25S not reviewed Insufficiently evaluated not reviewed unknown Array 27 4232 0.00637996 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SLC16A14 Leu179Shift L179Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRN4 Ile273Shift I273Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL9A3 Arg234Pro R234P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10444 0.000382995 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - COL9A3 Ala576Thr A576T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10746 0.00204727 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.366 Y Y 1 - 3 N - - COL6A2 Pro476His P476H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.423 Y Y 5 Y 3 N - - RTN4R Ser59Shift S59Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MN1 Pro920Shift P920Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDC42EP1 Asn258Shift N258Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 58 0.0172414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLB1 Gly526Asp G526D not reviewed Insufficiently evaluated not reviewed unknown Array 37 10052 0.00368086 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - GOLGA4 Trp1047Stop W1047X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRAIP Val189Shift V189Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC54 Glu106Stop E106X not reviewed Insufficiently evaluated not reviewed unknown Array rs61731427 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CASR Asn345Shift N345Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - UTS2D Arg111Stop R111X not reviewed Insufficiently evaluated not reviewed unknown Array rs16866426 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA1211 Met778Shift M778Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MFSD8 Asp239Glu D239E not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.943 Y Y -2 - 4 N - - DNAH5 Gly100Ala G100A not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 1 - 2 N - - PWWP2A Arg353Shift R353Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC17A1 His54Shift H54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NCRNA00243 Arg77Stop R77X not reviewed Insufficiently evaluated not reviewed unknown Array rs75666334 2 128 0.015625 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C6ORF27 Val352Shift V352Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKHD1 Glu3529Gln E3529Q not reviewed Insufficiently evaluated not reviewed unknown Array 139 10758 0.0129206 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - LCA5 Pro307Ala P307A not reviewed Insufficiently evaluated not reviewed unknown Array 13 10728 0.00121178 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 2 - 4 N - - TSPYL1 Val242Shift V242Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNE1 Ile2045Met I2045M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.732 Y Y -1 - 3 N - - GPR31 Trp177Stop W177X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DPY19L2P2 Tyr76Stop Y76X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC26A4 Met283Ile M283I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10756 0.00306806 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y -1 - 4 N - - RNF133 Arg240Stop R240X not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NM_001080826 Arg137Stop R137X not reviewed Insufficiently evaluated not reviewed unknown Array rs56290960 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BC037255 Trp129Stop W129X not reviewed Insufficiently evaluated not reviewed unknown Array 1 32 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TNFRSF10A Glu202Shift E202Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEFM Asp464Shift D464Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TG Asp1767Del D1767Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CYP11B1 Cys10Tyr C10Y not reviewed Insufficiently evaluated not reviewed unknown Array rs6405 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - MAPKAP1 Leu191Shift L191Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SARDH Gly731Arg G731R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10708 0.000373552 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - NELF Glu390Shift E390Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNPLA7 Arg1231Shift R1231Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TREX2 Arg87Stop R87X not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATAD3B Thr191Ala T191A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA1751 Lys470Glu K470E not reviewed Insufficiently evaluated not reviewed unknown Array 11 10032 0.00109649 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - FBXO6 Val290Ile V290I not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - NPPB Arg25Leu R25L not reviewed Insufficiently evaluated not reviewed unknown Array rs5227 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 6 Y 0 N - - TMEM82 Ala233Thr A233T not reviewed Insufficiently evaluated not reviewed unknown Array 49 10748 0.00455899 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPEN Arg936Thr R936T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - SPEN Val2690Met V2690M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 0 - 0 N - - HSPB7 Gln162Pro Q162P not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - ARHGEF10L Arg105Gln R105Q not reviewed Insufficiently evaluated not reviewed unknown Array 77 10682 0.00720839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - KIF17 Pro601Leu P601L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF17 Gln598Glu Q598E not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIF17 Glu523Asp E523D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LDLRAD2 Asp201Asn D201N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - HSPG2 Arg2312Gln R2312Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ZBTB40 Ile532Val I532V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GRHL3 Ala272Gly A272G not reviewed Insufficiently evaluated not reviewed unknown Array rs34593559 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXTL1 Glu543Gly E543G not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - COL16A1 Gly215Asp G215D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 4 Y 2 N - - CSMD2 Arg3454Trp R3454W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 2 N - - TEKT2 Ile126Thr I126T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - C1ORF122 Lys99Arg K99R not reviewed Insufficiently evaluated not reviewed unknown Array rs61745801 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MACF1 Thr498Ile T498I not reviewed Insufficiently evaluated not reviewed unknown Array rs16826072 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MACF1 Ile5396Val I5396V not reviewed Insufficiently evaluated not reviewed unknown Array rs12068423 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BMP8A Arg298Gln R298Q not reviewed Insufficiently evaluated not reviewed unknown Array 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - EDN2 Val60Ile V60I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - -4 - 2 N - - HIVEP3 Asp2312Asn D2312N not reviewed Insufficiently evaluated not reviewed unknown Array 10 10274 0.00097333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HIVEP3 Glu1822Lys E1822K not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.256 - - 0 - 1 N - - HECTD3 Asn577Ser N577S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10178 0.00501081 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - CYP4A11 Tyr158Cys Y158C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.748 - - 6 Y 1 N - - CYP4A11 His117Tyr H117Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.285 - - -1 - 1 N - - CYP4A11 Glu80Gln E80Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - CDKN2C Asp64Tyr D64Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 7 Y 0 N - - C1ORF177 Tyr60Cys Y60C not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DOCK7 Phe1584Tyr F1584Y not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - -4 - 0 N - - DOCK7 Gly1535Ser G1535S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - JAK1 Arg826Cys R826C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1ORF141 Gly345Arg G345R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SYDE2 Arg114Gly R114G not reviewed Insufficiently evaluated not reviewed unknown Array rs61753572 39 8550 0.0045614 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRRC8C Ile431Val I431V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA4 Arg1489Ser R1489S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.047 Y - 3 - 1 N - - PRPF38B Gln13His Q13H not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - -1 - 1 N - - CLCC1 Arg215Cys R215C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KCNA10 Arg373Gln R373Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.611 - - 0 - 1 N - - DDX20 Ala137Gly A137G not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 1 - 2 N - - ANKRD35 Arg893Leu R893L not reviewed Insufficiently evaluated not reviewed unknown Array 84 10740 0.00782123 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.62 - - 6 Y 1 N - - FLG2 Val11Ile V11I not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LCE1F Gly49Arg G49R not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - S100A7 Val58Ile V58I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - DENND4B Ser1037Asn S1037N not reviewed Insufficiently evaluated not reviewed unknown Array 7 9524 0.000734985 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - SHE Arg408Gln R408Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.718 - - 0 - 1 N - - ADAR Tyr587Cys Y587C not reviewed Insufficiently evaluated not reviewed unknown Array rs17843865 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RUSC1 Phe160Cys F160C not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.408 - - 4 Y 1 N - - YY1AP1 Asn13Ser N13S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - INSRR Arg244His R244H not reviewed Insufficiently evaluated not reviewed unknown Array rs55951840 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 1 - 0 N - - IGSF9 Gly362Ala G362A not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DEDD Arg137Ser R137S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OLFML2B Leu269Pro L269P not reviewed Insufficiently evaluated not reviewed unknown Array rs36108216 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZBTB37 Pro317Thr P317T not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NPHS2 Arg229Gln R229Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61747728 288 10758 0.0267708 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.351 Y - 0 - 2 N - - CSRP1 Asn28Asp N28D not reviewed Insufficiently evaluated not reviewed unknown Array rs34504522 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - PPP1R12B Glu656Lys E656K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CYB5R1 Lys177Asn K177N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LAX1 Ala151Thr A151T not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 1 - 1 N - - ZC3H11A Met466Val M466V not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - 0 - 0 N - - MDM4 Pro369Ala P369A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - TMCC2 Arg433His R433H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LGTN Trp457Arg W457R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - 7 Y 2 N - - C1ORF116 Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF107 Lys19Asn K19N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BATF3 Val11Ile V11I not reviewed Insufficiently evaluated not reviewed unknown Array rs2202683 285 4404 0.0647139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.125 - - -4 - 0 N - - CENPF Ala1268Gly A1268G not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CENPF Thr1975Met T1975M not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HHIPL2 Thr433Met T433M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - LBR Ser537Ala S537A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.489 Y - -1 - 2 N - - LEFTY2 Val57Met V57M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.974 - - 0 - 2 N - - COG2 Arg111Trp R111W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.862 - - 7 Y 2 N - - OPN3 Ala167Val A167V not reviewed Insufficiently evaluated not reviewed unknown Array rs12072790 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - SCCPDH Ile235Val I235V not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NUDT5 Ile123Thr I123T not reviewed Insufficiently evaluated not reviewed unknown Array rs34863826 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.275 - - 3 - 1 N - - FRMD4A Asn1022Ile N1022I not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 7 Y 1 N - - PLXDC2 Val189Ile V189I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - -4 - 0 N - - MSRB2 Phe113Ser F113S not reviewed Insufficiently evaluated not reviewed unknown Array 59 10080 0.00585317 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - ARMC4 Asp995Asn D995N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - SVIL Thr1630Ser T1630S not reviewed Insufficiently evaluated not reviewed unknown Array rs28451028 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - -2 - 0 N - - CSGALNACT2 Thr527Met T527M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744904 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FXYD4 Ala55Val A55V not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.365 - - 2 - 1 N - - GPRIN2 Leu235Phe L235F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 1 N - - CTNNA3 Leu249Pro L249P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 7 Y 2 N - - TET1 Leu73Phe L73F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KIAA1274 Arg646Gln R646Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61857083 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ZMIZ1 Asn476Ser N476S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - DYDC1 Glu160Ala E160A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 3 - 2 N - - IFIT1B Arg133His R133H not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R3C Phe190Ser F190S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - CYP26C1 Thr62Ser T62S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - -2 - 2 N - - TLL2 Thr595Met T595M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - TLL2 Arg446His R446H not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.476 - - 1 - 1 N - - TLL2 Val88Met V88M not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENTPD7 Arg58Gln R58Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61729539 105 10756 0.00976199 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.351 - - 0 - 1 N - - EIF3A Ala531Gly A531G not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CUZD1 Ser460Arg S460R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 3 - 1 N - - FANK1 Arg319Lys R319K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -3 - 0 N - - FAM196A Asn140Lys N140K not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.47 - - 1 - 1 N - - C10ORF91 Glu130Lys E130K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10728 0.000372856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK310947 Gly404Ala G404A not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPR123 Asp444Glu D444E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PAOX Gly460Ser G460S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10738 0.000186254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NLRP6 Val62Met V62M not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Pro3428Ala P3428A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10 0.1 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR52K1 Leu25Pro L25P not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 7 Y 1 N - - DCHS1 Trp1053Ser W1053S not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - OR5P3 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 3 - 0 N - - PDE3B Glu1015Lys E1015K not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 1 N - - INSC Gly33Ser G33S not reviewed Insufficiently evaluated not reviewed unknown Array 21 10750 0.00195349 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.686 - - 2 - 1 N - - HPS5 Thr1098Ile T1098I not reviewed Insufficiently evaluated not reviewed unknown Array rs61884288 281 10758 0.0261201 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.24 - Y 3 - 2 N - - SPTY2D1 Lys107Del K107Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ELP4 Ile300Leu I300L not reviewed Insufficiently evaluated not reviewed unknown Array rs34804357 24 9888 0.00242718 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -2 - 0 N - - PDHX Arg189His R189H not reviewed Insufficiently evaluated not reviewed unknown Array rs61752925 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - OR4B1 Glu265Lys E265K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.361 - - 0 - 1 N - - OR4C13 Val308Ile V308I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4C12 Arg258Cys R258C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - OR4C15 Val65Ile V65I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4C16 Val25Met V25M not reviewed Insufficiently evaluated not reviewed unknown Array rs12800642 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - OR4C11 Ile11Met I11M not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.478 - - -1 - 1 N - - OR5D14 Val299Met V299M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - 0 - 1 N - - OR5D18 Gln197Arg Q197R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.591 - - 0 - 1 N - - MPEG1 Val536Phe V536F not reviewed Insufficiently evaluated not reviewed unknown Array 17 9566 0.00177713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - MRPL16 Lys155Asn K155N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 1 - 2 N - - GIF Asp83Asn D83N not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.939 - - -1 - 2 N - - MS4A14 Pro286Ser P286S not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MS4A14 Pro326Gln P326Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 4 Y 2 N - - MS4A5 Ile103Thr I103T not reviewed Insufficiently evaluated not reviewed unknown Array 199 10754 0.0185047 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 3 - 2 N - - MS4A1 Asp285Asn D285N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - -1 - 1 N - - CD5 Arg25Gln R25Q not reviewed Insufficiently evaluated not reviewed unknown Array rs62641694 55 10732 0.00512486 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Pro5416Leu P5416L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - AHNAK Asn3587Ser N3587S not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Asp3133Asn D3133N not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - -1 - 2 N - - AHNAK Leu2970Trp L2970W not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.913 - - 5 Y 2 N - - AHNAK Cys2806Tyr C2806Y not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 6 Y 0 N - - AHNAK Gly2658Val G2658V not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AHNAK Arg1272Pro R1272P not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK Arg1063Lys R1063K not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AHNAK Gly393Glu G393E not reviewed Insufficiently evaluated not reviewed unknown Array 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - METTL12 His99Gln H99Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - -1 - 2 N - - METTL12 Thr141Asn T141N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF84 Val43Met V43M not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EHBP1L1 Val1149Leu V1149L not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - RIN1 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array 168 9546 0.017599 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - DPP3 Ala61Ser A61S not reviewed Insufficiently evaluated not reviewed unknown Array 178 10758 0.0165458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACTN3 Ala580Thr A580T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10662 9.3791e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IGHMBP2 Ala75Thr A75T not reviewed Insufficiently evaluated not reviewed unknown Array rs2228206 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - FOLR3 Arg98Cys R98C not reviewed Insufficiently evaluated not reviewed unknown Array rs61734430 399 10758 0.0370887 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FOLR3 Ile209Asn I209N not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CHRDL2 Ala126Asp A126D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2AT4 Arg95His R95H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DGAT2 Arg297Gln R297Q not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.426 - - 0 - 1 N - - FAM181B Pro340Ser P340S not reviewed Insufficiently evaluated not reviewed unknown Array 27 4918 0.00549004 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 3 - 2 N - - MRE11A Ile620Val I620V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - PIWIL4 Glu500Lys E500K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - CNTN5 Met1094Val M1094V not reviewed Insufficiently evaluated not reviewed unknown Array rs35208161 148 10030 0.0147557 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.061 - - 0 - 0 N - - DYNC2H1 Thr2440Met T2440M not reviewed Insufficiently evaluated not reviewed unknown Array 40 9426 0.00424358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.351 - - 2 - 1 N - - ZNF259 Leu313Phe L313F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - TMPRSS4 Ile278Thr I278T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - OR6T1 Ser243Leu S243L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ACRV1 Leu46Pro L46P not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 7 Y 2 N - - TIRAP Arg13Trp R13W not reviewed Insufficiently evaluated not reviewed unknown Array rs8177399 163 10754 0.0151572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAMTS15 Ser772Phe S772F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADAMTS15 Ala863Val A863V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KDM5A Glu1446Gln E1446Q not reviewed Insufficiently evaluated not reviewed unknown Array 53 9744 0.00543924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNA5 Pro546Ser P546S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NANOGP1 Arg95Lys R95K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - -3 - 0 N - - BC073935 Val148Ala V148A not reviewed Insufficiently evaluated not reviewed unknown Array rs4268576 4 14 0.285714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PHC1 Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 177 10480 0.0168893 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_006611 Asp212Glu D212E not reviewed Insufficiently evaluated not reviewed unknown Array rs35150845 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TAS2R8 Ile111Thr I111T not reviewed Insufficiently evaluated not reviewed unknown Array rs61737282 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.614 - - 3 - 1 N - - PRB3 Arg40His R40H not reviewed Insufficiently evaluated not reviewed unknown Array rs71455370 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRB4 Pro123Arg P123R not reviewed Insufficiently evaluated not reviewed unknown Array rs11054243 995 10758 0.0924893 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - PIK3C2G Ile1336Met I1336M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9660 0.000103519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMTC1 Gly82Asp G82D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HDAC7 Pro320Gln P320Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - SENP1 Ala280Thr A280T not reviewed Insufficiently evaluated not reviewed unknown Array rs35130318 71 9890 0.00717897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRKAG1 Lys329Asn K329N not reviewed Insufficiently evaluated not reviewed unknown Array rs34210356 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MLL2 Pro4349Ala P4349A not reviewed Insufficiently evaluated not reviewed unknown Array 25 9708 0.00257519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TROAP Ile435Val I435V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KRT80 Ser448Leu S448L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 1 N - - KRT80 Arg243Cys R243C not reviewed Insufficiently evaluated not reviewed unknown Array rs35219566 33 10744 0.00307148 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KRT82 Glu219Gln E219Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1791634 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.907 - - -2 - 2 N - - KRT73 Ala22Thr A22T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 1 - 0 N - - KRT79 Thr271Asn T271N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - TENC1 Gly716Glu G716E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - IGFBP6 Arg128Gly R128G not reviewed Insufficiently evaluated not reviewed unknown Array rs9658616 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - ESPL1 Leu684Phe L684F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 0 - 1 N - - NEUROD4 Gly64Glu G64E not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR6C6 Ser269Pro S269P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.547 - - 3 - 1 N - - OR6C75 Leu141Phe L141F not reviewed Insufficiently evaluated not reviewed unknown Array rs7976023 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.131 - - 0 - 0 N - - BAZ2A Pro413Arg P413R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10444 0.000287246 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MARS Ser209Asn S209N not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIG3 Leu1050Val L1050V not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 0 - 1 N - - MDM1 Pro630Ser P630S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740726 175 10758 0.016267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.276 - - 3 - 1 N - - TMEM19 Leu105Met L105M not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -3 - 0 N - - TBC1D15 Lys10Arg K10R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC59 Ser129Thr S129T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - -2 - 1 N - - NAA25 Val757Leu V757L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOS1 Ala899Thr A899T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - CIT Leu2Phe L2F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 0 - 2 N - - KNTC1 Thr1506Met T1506M not reviewed Insufficiently evaluated not reviewed unknown Array rs35315099 66 9902 0.00666532 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - NM_001083900 Arg197Trp R197W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001083900 Gly756Ser G756S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCOR2 Lys827Glu K827E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL831921 Asn301Ser N301S not reviewed Insufficiently evaluated not reviewed unknown Array rs61741219 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM132D His12Leu H12L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10394 0.0061574 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 6 Y 0 N - - PIWIL1 Ser341Thr S341T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.099 - - -2 - 0 N - - LATS2 Gly563Arg G563R not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USPL1 His26Tyr H26Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - KL Asn131Lys N131K not reviewed Insufficiently evaluated not reviewed unknown Array 52 10676 0.00487074 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.323 - - 1 - 1 N - - FREM2 Asn3024Ser N3024S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - 0 - 2 N - - KIAA0564 Val1564Met V1564M not reviewed Insufficiently evaluated not reviewed unknown Array rs73464952 69 10152 0.00679669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NEK3 Arg122Cys R122C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9588 0.000104297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYCBP2 Val138Met V138M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - 0 - 1 N - - ABCC4 Pro403Leu P403L not reviewed Insufficiently evaluated not reviewed unknown Array rs11568705 13 10756 0.00120863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP11A Val1083Leu V1083L not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MCF2L Arg464Gly R464G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - F7 Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.791 Y - 0 - 2 N - - AP1G2 Met69Thr M69T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 2 - 2 N - - GZMB Arg120Gln R120Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - C14ORF104 Pro456Leu P456L not reviewed Insufficiently evaluated not reviewed unknown Array 69 10480 0.00658397 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - POLE2 His84Pro H84P not reviewed Insufficiently evaluated not reviewed unknown Array rs34857719 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - 5 Y 1 N - - ADAM21 Val73Ile V73I not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - YLPM1 Gln118Thr Q118T not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FLVCR2 Leu224Val L224V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - C14ORF166B Asn329Ser N329S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATG2B Ile1969Val I1969V not reviewed Insufficiently evaluated not reviewed unknown Array rs35258365 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C14ORF180 Arg96Gln R96Q not reviewed Insufficiently evaluated not reviewed unknown Array 128 8740 0.0146453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADSSL1 Trp372Ser W372S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Phe2849Leu F2849L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10022 0.00189583 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - AHNAK2 Gly2847Met G2847M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Gly2640Ala G2640A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.04 - - 1 - 0 N - - AHNAK2 Arg2482Lys R2482K not reviewed Insufficiently evaluated not reviewed unknown Array 66 10172 0.0064884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -3 - 0 N - - AHNAK2 Thr2049Ala T2049A not reviewed Insufficiently evaluated not reviewed unknown Array 63 7664 0.00822025 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - AHNAK2 Leu2045Val L2045V not reviewed Insufficiently evaluated not reviewed unknown Array rs11850885 26 8452 0.00307619 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 0 - 0 N - - AHNAK2 Val1724Ala V1724A not reviewed Insufficiently evaluated not reviewed unknown Array 18 9548 0.00188521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHNAK2 Asp1320Ala D1320A not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 5 Y 2 N - - IGHA2 Ser6Ile S6I not reviewed Insufficiently evaluated not reviewed unknown Array 2 36 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - IGHA2 Val4Ala V4A not reviewed Insufficiently evaluated not reviewed unknown Array 2 36 0.0555556 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RASGRP1 Arg663Pro R663P not reviewed Insufficiently evaluated not reviewed unknown Array 5 9868 0.000506688 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - FSIP1 Phe175Ile F175I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 2 - 1 N - - RPAP1 Val183Met V183M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPAP1 Pro49Leu P49L not reviewed Insufficiently evaluated not reviewed unknown Array 196 10758 0.018219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - SPTBN5 Glu2075Lys E2075K not reviewed Insufficiently evaluated not reviewed unknown Array rs61745978 13 8798 0.00147761 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HAUS2 Ile232Thr I232T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 3 - 0 N - - DUOX2 Tyr1286His Y1286H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - DUOX2 Met1019Val M1019V not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - SQRDL Asp184Asn D184N not reviewed Insufficiently evaluated not reviewed unknown Array 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -1 - 0 N - - CEP152 Ser1303Arg S1303R not reviewed Insufficiently evaluated not reviewed unknown Array 13 9686 0.00134214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CEP152 Leu1182Val L1182V not reviewed Insufficiently evaluated not reviewed unknown Array 13 9340 0.00139186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP8B4 Thr164Ile T164I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - SLC27A2 Pro70Leu P70L not reviewed Insufficiently evaluated not reviewed unknown Array rs62623668 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - TRPM7 Arg1474Gln R1474Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35293353 20 9576 0.00208855 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFX7 Gly531Val G531V not reviewed Insufficiently evaluated not reviewed unknown Array rs16976751 53 10192 0.00520016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TEX9 Ser138Tyr S138Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF280D Val825Ile V825I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM63B Ile329Val I329V not reviewed Insufficiently evaluated not reviewed unknown Array 3 9596 0.00031263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NARG2 Ser605Thr S605T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - VPS13C His3601Arg H3601R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 1 - 0 N - - PIF1 Ala127Thr A127T not reviewed Insufficiently evaluated not reviewed unknown Array 49 4116 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - MTFMT Pro95Ser P95S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - KBTBD13 Thr455Ala T455A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ITGA11 Arg1054His R1054H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10246 0.00507515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - NEO1 Arg701Leu R701L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - CHRNA5 Lys167Arg K167R not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - -3 - 2 N - - C15ORF40 Arg100Cys R100C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ALPK3 Arg336His R336H not reviewed Insufficiently evaluated not reviewed unknown Array rs34407151 120 10756 0.0111566 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - KIF7 Leu529Pro L529P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NGRN Asp267Gly D267G not reviewed Insufficiently evaluated not reviewed unknown Array rs16944113 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RGS11 Arg382Cys R382C not reviewed Insufficiently evaluated not reviewed unknown Array 16 10740 0.00148976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 8 Y 0 N - - RGS11 Asn154Thr N154T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.093 - - 1 - 0 N - - WDR90 Cys813Tyr C813Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 9926 0.000503727 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - C16ORF91 His300Gln H300Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MRPS34 Glu23Gln E23Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11552432 87 7798 0.0111567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - -2 - 1 N - - CORO7 Val339Met V339M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10748 0.00260514 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF500 Thr467Met T467M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10128 0.000394944 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - TEKT5 Tyr89Cys Y89C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 6 Y 2 N - - SCNN1B Ala584Thr A584T not reviewed Insufficiently evaluated not reviewed unknown Array rs72654355 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.937 Y - 1 - 3 N - - PRKCB Gln165Glu Q165E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_018690 Glu273Lys E273K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10030 0.00159521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 0 - 2 N - - ATP2A1 Arg476His R476H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - RABEP2 Ala20Ser A20S not reviewed Insufficiently evaluated not reviewed unknown Array 243 7544 0.032211 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYLK3 Ile654Val I654V not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.914 - - -4 - 2 N - - NUP93 Thr239Met T239M not reviewed Insufficiently evaluated not reviewed unknown Array rs35563991 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - CDH8 Glu551Gln E551Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - HSD11B2 Val165Ile V165I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.463 Y - -4 - 2 N - - CENPT Ile236Thr I236T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10394 0.0010583 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXOSC6 Pro272Ser P272S not reviewed Insufficiently evaluated not reviewed unknown Array 95 7632 0.0124476 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 3 - 2 N - - ZFHX3 Thr1651Met T1651M not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 2 - 2 N - - ZFHX3 Lys952Thr K952T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 1 N - - ADAT1 Arg377Cys R377C not reviewed Insufficiently evaluated not reviewed unknown Array 202 10758 0.0187767 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ADAMTS18 Arg213Trp R213W not reviewed Insufficiently evaluated not reviewed unknown Array rs35701343 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MLYCD Lys309Gln K309Q not reviewed Insufficiently evaluated not reviewed unknown Array 34 10202 0.00333268 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.916 Y - -2 - 3 N - - SLC38A8 Leu210Val L210V not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - USP10 Pro25Ala P25A not reviewed Insufficiently evaluated not reviewed unknown Array 5 9464 0.000528317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.342 - - 2 - 1 N - - GINS2 His166Tyr H166Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - -1 - 0 N - - AX747795 Arg99Gly R99G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF469 Ala1230Glu A1230E not reviewed Insufficiently evaluated not reviewed unknown Array 11 3232 0.00340347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CBFA2T3 Pro95His P95H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10678 0.0011238 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 5 Y 2 N - - BC160930 Cys232Phe C232F not reviewed Insufficiently evaluated not reviewed unknown Array 1 18 0.0555556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - BC160930 Cys246Arg C246R not reviewed Insufficiently evaluated not reviewed unknown Array 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - MYO1C Thr415Met T415M not reviewed Insufficiently evaluated not reviewed unknown Array rs61750783 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SGSM2 His686Tyr H686Y not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TRPV1 Leu9Phe L9F not reviewed Insufficiently evaluated not reviewed unknown Array 10 10392 0.000962278 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MYBBP1A Leu385Pro L385P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 7 Y 1 N - - MYBBP1A Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array 63 10728 0.00587248 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - GLTPD2 Ala67Thr A67T not reviewed Insufficiently evaluated not reviewed unknown Array 55 10746 0.00511818 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - CAMTA2 Pro429Leu P429L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10700 9.3457e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - USP6 Thr424Met T424M not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF594 Ile617Thr I617T not reviewed Insufficiently evaluated not reviewed unknown Array 80 10180 0.00785855 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 3 - 2 N - - WSCD1 Phe20Leu F20L not reviewed Insufficiently evaluated not reviewed unknown Array 21 10216 0.0020556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - ZBTB4 Ser494Asn S494N not reviewed Insufficiently evaluated not reviewed unknown Array 70 10686 0.00655063 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - ZBTB4 Ser111Del S111Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SOX15 Arg32Gln R32Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10432 0.000287576 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - PIK3R6 Thr665Ile T665I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10562 0.00388184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYOCD Thr344Ile T344I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - TEKT3 Thr363Met T363M not reviewed Insufficiently evaluated not reviewed unknown Array 59 10756 0.00548531 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF286A Tyr90Ser Y90S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 5 Y 1 N - - BC070367 Thr161Ser T161S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPR179 Thr2165Lys T2165K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10368 0.00106096 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - KLHL11 Thr516Ile T516I not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - NPEPPS Glu873Gln E873Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34598464 34 9822 0.00346162 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF652 Val182Ala V182A not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.212 - - 2 - 1 N - - COIL Arg164Lys R164K not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - -3 - 0 N - - SCPEP1 Val144Phe V144F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - BZRAP1 Gly1599Ser G1599S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 2 - 0 N - - CSHL1 His195Tyr H195Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CSHL1 Leu165Arg L165R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSHL1 His164Arg H164R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BPTF Gly2390Ser G2390S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA8 Ala1344Thr A1344T not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.887 - - 1 - 2 N - - OTOP3 Gly102Cys G102C not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - LLGL2 Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - GALK1 Arg286Gln R286Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10572 0.00170261 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - QRICH2 Gly143His G143H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - UBE2O Asn870Ser N870S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ST6GALNAC1 Gly98Arg G98R not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.193 - - 6 Y 0 N - - CBX2 Leu370Val L370V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10648 9.3914e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC40 Ala378Thr A378T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10194 0.00382578 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 1 - 0 N - - SLC26A11 Leu30Val L30V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10748 0.00725716 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CD7 Pro156Leu P156L not reviewed Insufficiently evaluated not reviewed unknown Array 87 10700 0.00813084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF750 Asn93Asp N93D not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - -1 - 2 N - - B3GNTL1 Arg221Cys R221C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10756 0.00139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - EMILIN2 Met259Val M259V not reviewed Insufficiently evaluated not reviewed unknown Array rs35267664 229 10758 0.0212865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTPRM Thr336Met T336M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APCDD1 Val351Ile V351I not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.092 - - -4 - 0 N - - CEP192 Ser237Asn S237N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP192 Pro563Arg P563R not reviewed Insufficiently evaluated not reviewed unknown Array rs61739695 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 5 Y 0 N - - CTAGE1 Asp475Gly D475G not reviewed Insufficiently evaluated not reviewed unknown Array 3 10746 0.000279173 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1328 Arg314His R314H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10374 0.000578368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LOXHD1 Val1330Ile V1330I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - ALPK2 Pro540Leu P540L not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.091 - - 7 Y 0 N - - ZCCHC2 Thr941Ala T941A not reviewed Insufficiently evaluated not reviewed unknown Array rs35643152 112 10516 0.0106504 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.866 - - 1 - 2 N - - CDH19 Ala712Thr A712T not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.347 - - 1 - 1 N - - ATP9B Gly260Ser G260S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 2 - 1 N - - ADAT3 Lys53Glu K53E not reviewed Insufficiently evaluated not reviewed unknown Array 122 10638 0.0114683 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.884 - - 0 - 2 N - - FEM1A Gly246Ala G246A not reviewed Insufficiently evaluated not reviewed unknown Array rs73919320 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - LONP1 Lys244Del K244Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACSBG2 Arg583Gln R583Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35768768 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.119 - - 0 - 0 N - - C3 Ile1367Thr I1367T not reviewed Insufficiently evaluated not reviewed unknown Array rs11569541 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y - 3 - 1 N - - FCER2 Ser254Asn S254N not reviewed Insufficiently evaluated not reviewed unknown Array rs35825847 1 10592 9.441e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBN3 His2353Tyr H2353Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 10426 0.00374065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC16 His6881Leu H6881L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10472 0.00143239 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Asp4205Gly D4205G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Ala4042Val A4042V not reviewed Insufficiently evaluated not reviewed unknown Array 15 9924 0.00151149 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR7G3 Val247Ile V247I not reviewed Insufficiently evaluated not reviewed unknown Array rs10424352 6 128 0.046875 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - -4 - 1 N - - OR7G3 Ser64Phe S64F not reviewed Insufficiently evaluated not reviewed unknown Array rs10407484 6 128 0.046875 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 5 Y 0 N - - ZNF559 Glu326Lys E326K not reviewed Insufficiently evaluated not reviewed unknown Array 117 10758 0.0108756 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 0 - 0 N - - KANK2 Met369Val M369V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KANK2 Asp130Tyr D130Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - DOCK6 Ala1481Thr A1481T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF833P Thr182Met T182M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10740 0.00158287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.77 - - 2 - 1 N - - ZNF491 Asn225Ser N225S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ZNF440 Cys228Arg C228R not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 8 Y 0 N - - ZNF433 Arg410Gln R410Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.652 - - 0 - 1 N - - CCDC105 Gly458Ser G458S not reviewed Insufficiently evaluated not reviewed unknown Array 260 10756 0.0241726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 2 - 2 N - - CYP4F8 Arg33Cys R33C not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYP4F8 Arg49Trp R49W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10750 0.00176744 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - F2RL3 Asn117Ser N117S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10588 0.000188893 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ANO8 Ser990Leu S990L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTPBP3 Gly476Arg G476R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1683 Glu749Lys E749K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1683 AlaTyrProSerGlnProThrGluMetSerProSerProAla263Val AYPSQPTEMSPSPA263V not reviewed Insufficiently evaluated not reviewed unknown Array 2 104 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSSK6 Leu183Pro L183P not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - YJEFN3 Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array rs61749571 12 10302 0.00116482 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNF85 Thr526Asn T526N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742195 64 10618 0.0060275 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF708 Glu117Asp E117D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - RPSA Glu213Ala E213A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TDRD12 Gln948Leu Q948L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 5 Y 2 N - - KIAA0355 Cys245Ser C245S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM187B Ser259Tyr S259Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - KRTDAP Asp83Gly D83G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - CYP2B6 Lys139Glu K139E not reviewed Insufficiently evaluated not reviewed unknown Array rs12721655 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - PSG9 Asn322Tyr N322Y not reviewed Insufficiently evaluated not reviewed unknown Array rs3180651 421 10600 0.039717 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC034980 Ser263Thr S263T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NR_002797 Gly101Ser G101S not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF541 Pro280His P280H not reviewed Insufficiently evaluated not reviewed unknown Array rs34730322 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GLTSCR2 Ser20Phe S20F not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 5 Y 1 N - - PLA2G4C Pro399Ser P399S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC114 Arg152His R152H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CCDC114 Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array rs73942222 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_004401 Arg186Gln R186Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRC His300HisLysGluGlu H300HKEE not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HRC Ser299Gly S299G not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - POLD1 Arg343Pro R343P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10638 9.4002e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 5 Y 2 N - - SIGLECP3 Ser154Del S154Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF28 Ser287Ala S287A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF468 Arg135His R135H not reviewed Insufficiently evaluated not reviewed unknown Array rs61729957 374 10758 0.0347648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSCAR Tyr201Cys Y201C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10620 0.000376647 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LILRB1 Ala309Val A309V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737895 151 10750 0.0140465 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.855 - - 2 - 2 N - - ZNF471 Gln618Del Q618Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USP29 Tyr919Cys Y919C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF417 Arg316His R316H not reviewed Insufficiently evaluated not reviewed unknown Array rs3745133 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - ATAD2B Asn1223Ser N1223S not reviewed Insufficiently evaluated not reviewed unknown Array 70 9962 0.0070267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATAD2B Asp719Glu D719E not reviewed Insufficiently evaluated not reviewed unknown Array 7 9494 0.000737307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UBXN2A Lys8Arg K8R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -3 - 0 N - - C2ORF16 Thr1003Lys T1003K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM179A Gly407Arg G407R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10138 0.00295916 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - CAPN13 Gln239Arg Q239R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10060 0.00029821 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FAM98A Tyr215Phe Y215F not reviewed Insufficiently evaluated not reviewed unknown Array rs35346181 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001101330 Ile172Val I172V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRPPRC Ala510Gly A510G not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.673 Y - 1 - 2 N - - FBXO11 Arg49His R49H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KLRAQ1 Asn619Ser N619S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - STON1-GTF2A1L Arg516His R516H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - STON1-GTF2A1L Val897Ala V897A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK096196 Arg103Gly R103G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASPRV1 Gly89Arg G89R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 6 Y 1 N - - ADD2 Gln16Arg Q16R not reviewed Insufficiently evaluated not reviewed unknown Array 53 10756 0.00492748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.365 - - 0 - 1 N - - CD207 Arg84His R84H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10040 0.00298805 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - MPHOSPH10 Asp140Asn D140N not reviewed Insufficiently evaluated not reviewed unknown Array rs10175940 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - C2ORF78 Met605Thr M605T not reviewed Insufficiently evaluated not reviewed unknown Array 16 9632 0.00166113 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RTKN Leu381Ile L381I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CCDC74B Arg377Pro R377P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - AX746496 Arg185Cys R185C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - YSK4 Lys724Thr K724T not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 3 - 2 N - - RAB3GAP1 Ser62Thr S62T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - -2 - 1 N - - THSD7B Met284Ile M284I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9568 0.000104515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - THSD7B Arg1313His R1313H not reviewed Insufficiently evaluated not reviewed unknown Array rs6430735 87 10416 0.00835253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRP1B Val437Ile V437I not reviewed Insufficiently evaluated not reviewed unknown Array 49 10752 0.00455729 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RIF1 Lys637Arg K637R not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.31 - - -3 - 1 N - - FMNL2 Gln948Glu Q948E not reviewed Insufficiently evaluated not reviewed unknown Array 16 10250 0.00156097 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.611 - - -2 - 1 N - - GPD2 Pro205Leu P205L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - KCNH7 Lys1098Arg K1098R not reviewed Insufficiently evaluated not reviewed unknown Array 106 10758 0.00985313 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - LRP2 Glu4560Asp E4560D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.018 - Y -2 - 1 N - - SSB GluAsp219AspAla ED219DA not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDE11A Arg52Thr R52T not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - ZDBF2 Ser874Trp S874W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 7 Y 0 N - - CXCR2P1 Ala122Ser A122S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CXCR2P1 Arg96Pro R96P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RUFY4 Gln170Leu Q170L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10232 0.00195465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NCL AspAsp249Del DD249Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C2ORF52 Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NEU2 Arg182Trp R182W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 7 Y 2 N - - SCLY Leu195Val L195V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.315 - - 0 - 1 N - - ANKMY1 Arg458Gln R458Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.096 - - 0 - 0 N - - FARP2 Pro585Ser P585S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - PDCD1 Ala196Thr A196T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10728 0.00093214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TGM3 Ala468Val A468V not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMC2 Val680Ile V680I not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - ATRN Asn911Ser N911S not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PLK1S1 His591Gln H591Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 9902 0.000403958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CD93 Gln78His Q78H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - COX4I2 Phe111Leu F111L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.762 - - 0 - 1 N - - KIF3B Ser727Phe S727F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.053 - - 5 Y 0 N - - SUN5 Ile120Val I120V not reviewed Insufficiently evaluated not reviewed unknown Array rs35216976 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHD6 Glu1951Lys E1951K not reviewed Insufficiently evaluated not reviewed unknown Array rs61752058 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 0 - 0 N - - SGK3 Thr6Ile T6I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 3 - 1 N - - KCNS1 Ser493Gly S493G not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.658 - - 2 - 1 N - - MATN4 Ile524Asn I524N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTGIS Asp109Tyr D109Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - PPP4R1L Leu139Phe L139F not reviewed Insufficiently evaluated not reviewed unknown Array rs61733253 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBB1 Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array rs62639974 94 10756 0.00873931 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - NM_001037335 Thr1764Met T1764M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - 2 - 1 N - - NM_001037335 Gly1245Ser G1245S not reviewed Insufficiently evaluated not reviewed unknown Array 63 10550 0.00597156 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.96 - - 2 - 2 N - - ABHD16B Arg370Ser R370S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.103 - - 3 - 0 N - - KRTAP6-3 Cys42Tyr C42Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DSCR6 Asp49Asn D49N not reviewed Insufficiently evaluated not reviewed unknown Array rs61735126 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DSCR6 Arg162Gln R162Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61735126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 0 - 2 N - - TRPM2 Arg755Cys R755C not reviewed Insufficiently evaluated not reviewed unknown Array rs35288229 431 10754 0.0400781 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP10-6 Gln210Pro Q210P not reviewed Insufficiently evaluated not reviewed unknown Array 84 10754 0.00781105 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP10-11 Val150Ile V150I not reviewed Insufficiently evaluated not reviewed unknown Array 176 10758 0.0163599 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CCT8L2 Pro527Ala P527A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CLTCL1 Arg945His R945H not reviewed Insufficiently evaluated not reviewed unknown Array rs36077768 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C22ORF43 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SGSM1 Ala883Val A883V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10488 0.000286041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO18B Gln2169His Q2169H not reviewed Insufficiently evaluated not reviewed unknown Array 13 9818 0.0013241 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.713 - - -1 - 1 N - - C22ORF31 Ala219Thr A219T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RHBDD3 Arg135Cys R135C not reviewed Insufficiently evaluated not reviewed unknown Array rs2231394 39 10314 0.00378127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GAS2L1 Pro178Ser P178S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10666 0.00281267 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GAS2L1 Gly310Val G310V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSF2RB Gly647Val G647V not reviewed Insufficiently evaluated not reviewed unknown Array rs1801115 3 10608 0.000282805 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.836 - - 8 Y 1 N - - TRIOBP Arg655Gln R655Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 10016 0.00189696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.06 Y - 0 - 1 N - - ACO2 Leu74Val L74V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10756 0.00362588 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - TCF20 Ala1812Thr A1812T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFCAB6 Thr1182Pro T1182P not reviewed Insufficiently evaluated not reviewed unknown Array rs34955597 435 10758 0.040435 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.11 - - 4 Y 0 N - - CNTN4 Asn461Ser N461S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFTN1 Glu507Gly E507G not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.735 - - 6 Y 1 N - - GADL1 Asp188Tyr D188Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61738477 2 128 0.015625 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CMTM8 Ala122Val A122V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 2 - 2 N - - SUSD5 Arg287Gln R287Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 9852 0.00598863 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - SCN10A Pro1676Ala P1676A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CX3CR1 Ala313Val A313V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10002 0.00039992 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.135 - - 2 - 0 N - - TGM4 Ser530Leu S530L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 6 Y 0 N - - LIMD1 Ser343Thr S343T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -2 - 0 N - - KIF9 Gly248Asp G248D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - SMARCC1 Ala1101Thr A1101T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC51 Arg170Cys R170C not reviewed Insufficiently evaluated not reviewed unknown Array 2 9950 0.000201005 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - LAMB2 Pro37Ala P37A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y - 2 - 1 N - - AK128592 Tyr373Phe Y373F not reviewed Insufficiently evaluated not reviewed unknown Array rs17057989 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C3ORF67 Gly104Arg G104R not reviewed Insufficiently evaluated not reviewed unknown Array rs36098207 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C3ORF49 Arg173Trp R173W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPP4R2 Ala202Thr A202T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10698 0.000654327 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FILIP1L Met730Leu M730L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9634 0.000311397 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - -3 - 2 N - - TBC1D23 Ile40Thr I40T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - CEP97 Lys296Gln K296Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -2 - 2 N - - PHLDB2 Cys349Arg C349R not reviewed Insufficiently evaluated not reviewed unknown Array rs35404824 68 10758 0.00632088 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.994 - - 8 Y 2 N - - GRAMD1C Ile363Leu I363L not reviewed Insufficiently evaluated not reviewed unknown Array 68 10748 0.00632676 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -2 - 0 N - - HCLS1 Ile283Leu I283L not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HEG1 Val1197Ile V1197I not reviewed Insufficiently evaluated not reviewed unknown Array 18 10080 0.00178571 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.106 - - -4 - 0 N - - COL6A6 Thr698Pro T698P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 4 Y 1 N - - CCRL1 Val78Leu V78L not reviewed Insufficiently evaluated not reviewed unknown Array 65 10694 0.00607817 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.431 - - 0 - 1 N - - RYK Arg506Cys R506C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CP Phe92Ser F92S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 - Y 5 Y 3 N - - GPR87 Thr205Met T205M not reviewed Insufficiently evaluated not reviewed unknown Array rs35521104 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IGSF10 Gln888Pro Q888P not reviewed Insufficiently evaluated not reviewed unknown Array rs35491609 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SERPINI2 Met257Val M257V not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR49 Ile617Thr I617T not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - DVL3 Arg586Ser R586S not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC001200 Val52Met V52M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VPS8 Ser892Arg S892R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EHHADH Ile203Ser I203S not reviewed Insufficiently evaluated not reviewed unknown Array 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRG Arg43Trp R43W not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - HRG Pro257Leu P257L not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 7 Y 1 N - - ATP13A5 Gln938Lys Q938K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -2 - 2 N - - ATP13A4 Ser514Gly S514G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.721 - - 2 - 1 N - - MUC4 Ser3285Gly S3285G not reviewed Insufficiently evaluated not reviewed unknown Array 4 3194 0.00125235 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF42 Ala82Ser A82S not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RGS12 Ser455Asn S455N not reviewed Insufficiently evaluated not reviewed unknown Array 215 10756 0.0199888 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - EVC Asp184Asn D184N not reviewed Insufficiently evaluated not reviewed unknown Array rs41269549 30 10758 0.00278862 2 0 2 0 0 1 Y - - - - - - - - - - Y - - - 0.697 Y - -1 - 2 N - - PPARGC1A Gly482Asp G482D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 4 Y 0 N - - PCDH7 Ala1058Ser A1058S not reviewed Insufficiently evaluated not reviewed unknown Array rs61748744 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC66 Leu404Val L404V not reviewed Insufficiently evaluated not reviewed unknown Array 36 9994 0.00360216 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - LRRC66 Arg351Leu R351L not reviewed Insufficiently evaluated not reviewed unknown Array 113 9776 0.0115589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.578 - - 6 Y 1 N - - CEP135 Ile729Val I729V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RUFY3 Asn67Asp N67D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -1 - 0 N - - RUFY3 Arg602Gln R602Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRSF1 Thr162Ser T162S not reviewed Insufficiently evaluated not reviewed unknown Array 25 9626 0.00259713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ALB Ala387Ser A387S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - BTC Gln72Pro Q72P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 4 Y 1 N - - SDAD1 Arg661Gln R661Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 0 - 2 N - - FRAS1 Asn2539Ser N2539S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - BMP2K Ala58Asp A58D not reviewed Insufficiently evaluated not reviewed unknown Array 158 7628 0.0207132 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - SMARCAD1 Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - PDLIM5 Pro388Ser P388S not reviewed Insufficiently evaluated not reviewed unknown Array rs7690464 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TIGD4 Arg213Ser R213S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 3 - 1 N - - ODZ1 Val906Leu V906L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - FAM149A Asn336Ser N336S not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM149A Glu341Lys E341K not reviewed Insufficiently evaluated not reviewed unknown Array 89 10758 0.00827291 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IRX1 Pro445Thr P445T not reviewed Insufficiently evaluated not reviewed unknown Array rs6884950 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NPR3 Ala157Thr A157T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGXT2 Arg242Gln R242Q not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - NAIP Pro531Ser P531S not reviewed Insufficiently evaluated not reviewed unknown Array rs150433 4 56 0.0714286 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NAIP Pro919Ser P919S not reviewed Insufficiently evaluated not reviewed unknown Array rs150433 4 56 0.0714286 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MAP1B Glu1019Asp E1019D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IQGAP2 Arg714Trp R714W not reviewed Insufficiently evaluated not reviewed unknown Array rs35366349 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AGGF1 Thr341Ile T341I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 3 - 0 N - - WDR41 Ile348Val I348V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - -4 - 0 N - - DHFR Met140Leu M140L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10620 0.00122411 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - -3 - 0 N - - NBPF22P Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO4C1 Met667Leu M667L not reviewed Insufficiently evaluated not reviewed unknown Array 127 10754 0.0118096 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.209 - - -3 - 1 N - - DMXL1 Pro451Thr P451T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10756 0.00167348 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - CEP120 Ser728Gly S728G not reviewed Insufficiently evaluated not reviewed unknown Array rs61744334 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MEGF10 Arg1072Asn R1072N not reviewed Insufficiently evaluated not reviewed unknown Array rs17164935 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ACSL6 Asp172Asn D172N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAD50 Thr191Ile T191I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230017 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - KDM3B Arg607Gln R607Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 0 - 2 N - - NM_016459 Ile17Thr I17T not reviewed Insufficiently evaluated not reviewed unknown Array 64 10240 0.00625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR151 Met201Ile M201I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - SYNPO Thr320Asn T320N not reviewed Insufficiently evaluated not reviewed unknown Array rs34850457 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAT2 Glu4038Lys E4038K not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 0 - 1 N - - FAT2 Leu1326Phe L1326F not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - GALNT10 Arg464Gln R464Q not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - HMMR Leu595Ile L595I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230363 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - -2 - 0 N - - TLX3 Ala32Val A32V not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - LMAN2 Leu39Ser L39S not reviewed Insufficiently evaluated not reviewed unknown Array rs11541336 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RPP40 Asn98Lys N98K not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF13A Val889Leu V889L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - TPMT Gln179His Q179H not reviewed Insufficiently evaluated not reviewed unknown Array rs6921269 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -1 - 0 N - - GPLD1 Ser677Thr S677T not reviewed Insufficiently evaluated not reviewed unknown Array rs61733146 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - HIST1H1T Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 1 - 0 N - - ZNF391 Ala115Val A115V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HIST1H4K His19Arg H19R not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNXB Arg3209Gly R3209G not reviewed Insufficiently evaluated not reviewed unknown Array rs41270450 220 6722 0.0327284 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - TNXB Gly2846Arg G2846R not reviewed Insufficiently evaluated not reviewed unknown Array rs61745355 114 6836 0.0166764 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 6 Y 2 N - - UHRF1BP1 His821Tyr H821Y not reviewed Insufficiently evaluated not reviewed unknown Array rs45458098 74 10076 0.00734418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - -1 - 2 N - - DNAH8 Ile2563Val I2563V not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - -4 - 0 N - - MDFI Arg128Gln R128Q not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - AX746830 Gly124Arg G124R not reviewed Insufficiently evaluated not reviewed unknown Array rs61743886 187 10754 0.0173889 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF142 Leu491Phe L491F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAI3 Gly592Asp G592D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 4 Y 2 N - - FAM46A Asp167Asn D167N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TBX18 Arg274Cys R274C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ORC3 Thr287Met T287M not reviewed Insufficiently evaluated not reviewed unknown Array rs2307381 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.056 - - 2 - 0 N - - MDN1 Gln4284Glu Q4284E not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - -2 - 2 N - - KLHL32 Gln123Arg Q123R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - HACE1 Phe490Val F490V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - 3 - 1 N - - PDSS2 Pro93Ser P93S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 3 - 3 N - - MICAL1 Phe340Pro F340P not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRDN Ala366Thr A366T not reviewed Insufficiently evaluated not reviewed unknown Array rs35047281 99 9426 0.0105029 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC2A12 Gly105Ala G105A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - IFNGR1 Val61Ile V61I not reviewed Insufficiently evaluated not reviewed unknown Array rs17175322 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.967 Y - -4 - 3 N - - HEBP2 Pro28Arg P28R not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.255 - - 5 Y 1 N - - OPRM1 Asn152Asp N152D not reviewed Insufficiently evaluated not reviewed unknown Array rs17174801 29 10542 0.0027509 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RBM16 Ile467Val I467V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - RBM16 Val543Ile V543I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - SYTL3 Arg336Gln R336Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61738619 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLG Ser460Arg S460R not reviewed Insufficiently evaluated not reviewed unknown Array 163 10758 0.0151515 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - SNX8 Pro34Leu P34L not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.797 - - 7 Y 1 N - - RADIL Ala892Pro A892P not reviewed Insufficiently evaluated not reviewed unknown Array 118 9194 0.0128345 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RADIL Pro52Ala P52A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL28A1 Ser479Phe S479F not reviewed Insufficiently evaluated not reviewed unknown Array 9 9442 0.000953187 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 5 Y 0 N - - COL28A1 Ile239Val I239V not reviewed Insufficiently evaluated not reviewed unknown Array rs10486180 541 9686 0.0558538 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - DNAH11 Asp4194Glu D4194E not reviewed Insufficiently evaluated not reviewed unknown Array 115 9870 0.0116515 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - CLK2P Leu63Val L63V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AVL9 Cys257Arg C257R not reviewed Insufficiently evaluated not reviewed unknown Array rs2290213 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NPC1L1 Glu1308Lys E1308K not reviewed Insufficiently evaluated not reviewed unknown Array rs217435 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPC1L1 Thr61Met T61M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNS3 Pro868Leu P868L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10024 0.00399042 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.44 - - 7 Y 1 N - - PKD1L1 Met414Val M414V not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.066 - - 0 - 0 N - - NR_003952 Met188Val M188V not reviewed Insufficiently evaluated not reviewed unknown Array rs545330 4 52 0.0769231 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TYW1 Arg436Trp R436W not reviewed Insufficiently evaluated not reviewed unknown Array rs72608580 408 10758 0.0379253 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.054 - - 7 Y 0 N - - STYXL1 His263Arg H263R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 1 - 2 N - - STYXL1 Gln18Glu Q18E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -2 - 2 N - - CROT Asn44Lys N44K not reviewed Insufficiently evaluated not reviewed unknown Array rs61734463 21 10726 0.00195786 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.342 - - 1 - 1 N - - ADAM22 His119Tyr H119Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4728730 26 9646 0.00269542 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - -1 - 0 N - - GTPBP10 Ser78Ile S78I not reviewed Insufficiently evaluated not reviewed unknown Array 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - 5 Y 1 N - - FAM200A Asp338Asn D338N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.453 - - -1 - 1 N - - CYP3A4 Val489Ile V489I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AGFG2 Glu224Gly E224G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZAN His399Arg H399R not reviewed Insufficiently evaluated not reviewed unknown Array 50 9728 0.0051398 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZAN Ala473Val A473V not reviewed Insufficiently evaluated not reviewed unknown Array 91 9856 0.00923295 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC3A Met288Thr M288T not reviewed Insufficiently evaluated not reviewed unknown Array rs73714259 1656 4586 0.361099 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MUC17 Pro935Leu P935L not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC17 Thr380Met T380M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PMPCB Gly29Arg G29R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PTPRZ1 Asp804Asn D804N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - -1 - 1 N - - LRGUK Ile806Asn I806N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 7 Y 2 N - - TRPV5 Ala677Val A677V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ATG9B Ala432Thr A432T not reviewed Insufficiently evaluated not reviewed unknown Array 29 8062 0.00359712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGAP3 Pro900Ser P900S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHPF2 Arg456His R456H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.635 - - 1 - 1 N - - NOM1 Pro62Ser P62S not reviewed Insufficiently evaluated not reviewed unknown Array 92 9070 0.0101433 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 3 - 2 N - - NOM1 Ile622Met I622M not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - -1 - 0 N - - SOX7 Ala379Val A379V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.712 - - 2 - 1 N - - DOK2 Ala372Val A372V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 2 - 2 N - - DOK2 Arg229Trp R229W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZNF703 SerGly20Del SG20Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLAT Arg164Trp R164W not reviewed Insufficiently evaluated not reviewed unknown Array rs2020921 169 10758 0.0157092 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 0 N - - LYPLA1 Ser209Arg S209R not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.701 - - 3 - 1 N - - NKAIN3 Ile44Met I44M not reviewed Insufficiently evaluated not reviewed unknown Array 30 9518 0.00315192 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - CSPP1 Glu325Asp E325D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CNBD1 Leu124Ser L124S not reviewed Insufficiently evaluated not reviewed unknown Array 5 9468 0.000528094 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - 6 Y 2 N - - CNBD1 Glu422Asp E422D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - -2 - 0 N - - NECAB1 Ala271Thr A271T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - 1 - 1 N - - BC071743 Ala73Pro A73P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSMD3 Thr3156Ala T3156A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.784 - - 1 - 1 N - - WDR67 Arg777Lys R777K not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - -3 - 1 N - - ATAD2 Asp277Del D277Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 106 0.0188679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLHL38 Asn444Ile N444I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.861 - - 7 Y 2 N - - TMEM71 Asp145Gly D145G not reviewed Insufficiently evaluated not reviewed unknown Array rs34949262 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - BAI1 Ala1435Glu A1435E not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.6 - - 3 - 1 N - - FAM83H Gly781Asp G781D not reviewed Insufficiently evaluated not reviewed unknown Array 1 62 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 4 Y 0 N - - PLEC Gln2470Arg Q2470R not reviewed Insufficiently evaluated not reviewed unknown Array 1 20 0.05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TONSL Gln598Glu Q598E not reviewed Insufficiently evaluated not reviewed unknown Array rs61732278 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DOCK8 Arg940Trp R940W not reviewed Insufficiently evaluated not reviewed unknown Array rs16937932 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C9ORF93 Glu785Ala E785A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IFNA2 Arg46Lys R46K not reviewed Insufficiently evaluated not reviewed unknown Array rs1061959 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NOL6 Leu307Ile L307I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -2 - 0 N - - C9ORF24 Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRPM3 Leu727Pro L727P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK122718 Gln286His Q286H not reviewed Insufficiently evaluated not reviewed unknown Array 24 4586 0.00523332 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RMI1 Asp424Gly D424G not reviewed Insufficiently evaluated not reviewed unknown Array rs35874719 100 10684 0.00935979 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 4 Y 2 N - - OMD Ile282Thr I282T not reviewed Insufficiently evaluated not reviewed unknown Array rs35779901 7 10746 0.000651405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 3 - 1 N - - ECM2 Thr109Ser T109S not reviewed Insufficiently evaluated not reviewed unknown Array rs35496743 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - FAM22F Pro29Ser P29S not reviewed Insufficiently evaluated not reviewed unknown Array rs7047404 343 9952 0.0344654 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - ZNF510 Glu408Lys E408K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 0 - 0 N - - OR13C3 Lys293Thr K293T not reviewed Insufficiently evaluated not reviewed unknown Array rs10512330 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.616 - - 3 - 1 N - - OR13C3 Tyr90His Y90H not reviewed Insufficiently evaluated not reviewed unknown Array rs61742435 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - GSN Thr563Ser T563S not reviewed Insufficiently evaluated not reviewed unknown Array rs77681311 343 10742 0.0319307 3 0 3 0 0 - - - - - - - - - - - - Y - - - 0.023 Y - -2 - 1 N - - STOM Met275Thr M275T not reviewed Insufficiently evaluated not reviewed unknown Array rs41273438 315 10758 0.0292805 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.562 - - 2 - 1 N - - OR1N2 Arg139Cys R139C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.629 - - 8 Y 1 N - - DENND1A Pro799Leu P799L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10530 0.000474833 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.773 - - 7 Y 1 N - - MAPKAP1 Ser260Asn S260N not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - CERCAM Gly368Ser G368S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.146 - - 2 - 0 N - - ZDHHC12 Arg114Cys R114C not reviewed Insufficiently evaluated not reviewed unknown Array rs35607169 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - PRRC2B Arg443Pro R443P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - PRRC2B Pro653Leu P653L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - DDX31 Thr486Ala T486A not reviewed Insufficiently evaluated not reviewed unknown Array rs35140383 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.108 - - 1 - 0 N - - DPP7 Gln200His Q200H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EXD3 Ala110Val A110V not reviewed Insufficiently evaluated not reviewed unknown Array 195 10346 0.0188479 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.055 - - 2 - 0 N - - CR593643 Pro8Leu P8L not reviewed Insufficiently evaluated not reviewed unknown Array rs10867114 4 42 0.0952381 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.994 - - 7 Y 1 N - - ELK1 Gly144Ser G144S not reviewed Insufficiently evaluated not reviewed unknown Array rs1997639 74 8757 0.00845038 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.075 - - 2 - 0 N - - GPR173 His85Tyr H85Y not reviewed Insufficiently evaluated not reviewed unknown Array 7 8761 0.000798995 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.288 - - -1 - 1 N - - FOXO4 Lys215Arg K215R not reviewed Insufficiently evaluated not reviewed unknown Array 1 7940 0.000125944 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.676 - - -3 - 1 N - - NAP1L3 Gly66Val G66V not reviewed Insufficiently evaluated not reviewed unknown Array rs62635803 64 7771 0.00823575 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.774 - - 8 Y 1 N - - TCEAL2 Pro12Ala P12A not reviewed Insufficiently evaluated not reviewed unknown Array 8 8761 0.000913137 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.679 - - 2 - 1 N - - RGAG1 Ala504Thr A504T not reviewed Insufficiently evaluated not reviewed unknown Array rs34877837 162 8761 0.018491 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.891 - - 1 - 2 N - - RGAG1 Met525Leu M525L not reviewed Insufficiently evaluated not reviewed unknown Array rs35653272 161 8761 0.0183769 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.877 - - -3 - 2 N - - RGAG1 Pro777Ser P777S not reviewed Insufficiently evaluated not reviewed unknown Array rs35495390 162 8761 0.018491 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - BC034811 Gly44Arg G44R not reviewed Insufficiently evaluated not reviewed unknown Array rs61729631 2 92 0.0217391 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - CXORF40A Ala70Thr A70T not reviewed Insufficiently evaluated not reviewed unknown Array rs626560 3 83 0.0361446 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MAGEA9B Ile298Leu I298L not reviewed Insufficiently evaluated not reviewed unknown Array 2 78 0.025641 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MAGEA9 Ile298Leu I298L not reviewed Insufficiently evaluated not reviewed unknown Array 2 78 0.025641 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRRG3 Leu180Phe L180F not reviewed Insufficiently evaluated not reviewed unknown Array 77 8758 0.00879196 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COL11A1 Pro986Gln P986Q not reviewed Insufficiently evaluated not reviewed unknown Array rs78046647 24 10758 0.0022309 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OR2T12 Glu2Shift E2Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11339452 2 104 0.0192308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PTCHD3 Asp590Shift D590Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HIF1AN Trp27Shift W27Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PEX16 Arg66Gln R66Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - C12ORF32 Arg84Stop R84X not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ATN1 Pro400Shift P400Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - LRRK2 Met1646Thr M1646T not reviewed Insufficiently evaluated not reviewed unknown Array rs35303786 122 10738 0.0113615 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FBXO21 Asn180Shift N180Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11556202 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATP6V0A2 Ala496Thr A496T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 1 - 2 N - - SACS Val995Phe V995F not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 Y Y 3 - 2 N - - PABPC3 Ala217Shift A217Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARL11 Trp149Stop W149X not reviewed Insufficiently evaluated not reviewed unknown Array rs34301344 84 10754 0.00781105 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OLFM4 Arg214Stop R214X not reviewed Insufficiently evaluated not reviewed unknown Array rs34067666 116 10758 0.0107827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TEP1 Arg1772Gln R1772Q not reviewed Insufficiently evaluated not reviewed unknown Array rs8022805 449 10758 0.0417364 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TEP1 Arg1155Gln R1155Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2228041 474 10758 0.0440602 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - JUB Ala297Shift A297Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C14ORF106 His58Shift H58Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SNAPC1 Arg64Stop R64X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - UBE3A Ala201Thr A201T not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - OCA2 Cys777Gly C777G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 7 Y 4 N - - RPAP1 Arg1200Stop R1200X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CSPG4 Ser1601Shift S1601Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CSPG4 Leu1600Shift L1600Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKD1 Gly3957Asp G3957D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.131 Y Y 4 Y 2 N - - NTAN1 Ala55Shift A55Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SRCAP Ala1158Shift A1158Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC160930 Cys284Shift C284Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 28 0.0714286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALOXE3 Trp104Cys W104C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - TNFRSF13B Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.036 Y Y 7 Y 2 N - - RAB34 Arg206Stop R206X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LHX1 Leu324Shift L324Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAPT GlyThr539AlaAla GT539AA not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SCN4A Ser906Thr S906T not reviewed Insufficiently evaluated not reviewed unknown Array rs41280102 117 10036 0.011658 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - KIF19 Val178Shift V178Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UNC13D Met204Val M204V not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 0 - 4 N - - RNF157 Glu353Shift E353Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNRC6C Ser840Shift S840Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DSG2 Val920Gly V920G not reviewed Insufficiently evaluated not reviewed unknown Array 38 9880 0.00384615 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.025 Y Y 8 Y 2 N - - SERPINB3 Thr112Shift T112Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JSRP1 Pro111Shift P111Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOTCH3 Ala2070Val A2070V not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - BCAM Gln581Leu Q581L not reviewed Insufficiently evaluated not reviewed unknown Array rs28399659 263 10586 0.0248441 2 0 2 0 0 - - - - - - - - - - - - Y - - - 0.79 Y - 5 Y 2 N - - ZNF415 Lys522Shift K522Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRKCG Ile348Ser I348S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 5 Y 2 N - - ZSCAN22 Gln87Shift Q87Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTOF Arg1157Gln R1157Q not reviewed Insufficiently evaluated not reviewed unknown Array rs56054534 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.757 Y Y 0 - 3 N - - C2ORF42 Asp397Shift D397Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DYSF Arg1022Gln R1022Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34211915 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.54 Y Y 0 - 3 N - - EIF2AK3 Ala56Shift A56Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 86 0.0116279 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - C2ORF55 Gly38Shift G38Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPHP1 Gly274Glu G274E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TTN Ser27966Shift S27966Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - TTN Arg9639Lys R9639K not reviewed Insufficiently evaluated not reviewed unknown Array 125 9500 0.0131579 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - ICA1L Val417Shift V417Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MOGAT1 Gln269Shift Q269Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEP250 Arg1155Shift R1155Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CEP250 Arg1157Shift R1157Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RBL1 Ser103Shift S103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TP53TG5 Arg183Stop R183X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DSCR6 Gln98Stop Q98X not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL6A2 Arg853Gln R853Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10724 0.00186497 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.057 Y Y 0 - 2 N - - PCNT Gln2821Stop Q2821X not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 10 Y 2 N - - HIRA Lys39Shift K39Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIOBP Ser491Del S491Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - MGAT3 Glu247Shift E247Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNB Phe1411Leu F1411L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.997 Y Y 0 - 4 N - - SHQ1 Tyr215Shift Y215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KALRN Asp798Shift D798Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAJC19 Glu111Del E111Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - DOK7 Pro181Leu P181L not reviewed Insufficiently evaluated not reviewed unknown Array rs16844467 161 10542 0.0152722 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - FRYL Lys816Shift K816Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1712 Arg328Shift R328Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPR98 Asp1944Asn D1944N not reviewed Insufficiently evaluated not reviewed unknown Array rs41302834 53 9848 0.0053818 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.98 Y Y -1 - 4 N - - RAD50 Asn934Shift N934Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRM6 Arg547Cys R547C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 8 Y 3 N - - AK307070 Glu41Shift E41Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TJAP1 Gly543Shift G543Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDK19 Asp282Shift D282Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNE1 Asp2438Tyr D2438Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.63 Y Y 7 Y 3 N - - SYNE1 Ile220Val I220V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.967 Y Y -4 - 4 N - - SLC22A1 Ser189Leu S189L not reviewed Insufficiently evaluated not reviewed unknown Array rs34104736 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GPR146 Phe150Shift F150Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_003602 Tyr61Stop Y61X not reviewed Insufficiently evaluated not reviewed unknown Array rs400409 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL1A2 Arg906His R906H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - PTCD1 Ala632Shift A632Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CAPZA2 Leu258Shift L258Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPT Arg323Gly R323G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10686 9.358e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 6 Y 4 N - - IFNA17 His57Shift H57Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PPP3R2 Pro56Shift P56Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRUB2 Ala45Shift A45Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL5A1 Asp192Asn D192N not reviewed Insufficiently evaluated not reviewed unknown Array 162 10756 0.0150614 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NOXA1 Glu252Shift E252Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NDP Asp23Glu D23E not reviewed Insufficiently evaluated not reviewed unknown Array rs5952410 46 8761 0.00525054 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.489 Y Y -2 - 3 N - - MAGEE2 Ala177Shift A177Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACSL4 Gly361GlySerLysGly G361GSKG not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - STAG2 Leu115Shift L115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACTRT1 Met183Shift M183Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 91 0.010989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC028014 Arg97Cys R97C not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TAS1R3 Ser113Gly S113G not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - TMEM201 Leu119Val L119V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.484 - - 0 - 1 N - - FBXO6 Asp69His D69H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.8 - - 3 - 1 N - - NPPB Arg119Gln R119Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNFRSF8 Thr471Asn T471N not reviewed Insufficiently evaluated not reviewed unknown Array 79 10740 0.00735568 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHM2 Glu400Asp E400D not reviewed Insufficiently evaluated not reviewed unknown Array rs61738982 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPATA21 Leu182Ser L182S not reviewed Insufficiently evaluated not reviewed unknown Array 107 10758 0.00994609 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CROCC Arg1746Gln R1746Q not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH4A1 Phe388Leu F388L not reviewed Insufficiently evaluated not reviewed unknown Array rs41273175 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 1 N - - RNF186 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs41264113 50 10754 0.00464943 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.158 - - 1 - 0 N - - OTUD3 Tyr260Cys Y260C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - HSPG2 Ala3301Val A3301V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PTAFR Asn114Ser N114S not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - EPB41 Pro256Ser P256S not reviewed Insufficiently evaluated not reviewed unknown Array 58 10736 0.00540238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SERINC2 Val145Met V145M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 0 - 2 N - - HIVEP3 Ser1164Pro S1164P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTCH2 Arg357Trp R357W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZSWIM5 Asp776Asn D776N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10120 0.000889328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TESK2 Arg18His R18H not reviewed Insufficiently evaluated not reviewed unknown Array 17 9760 0.0017418 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MAGOH His96Arg H96R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.084 - - 1 - 0 N - - RWDD3 Ile15Val I15V not reviewed Insufficiently evaluated not reviewed unknown Array 88 9992 0.00880705 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - -4 - 2 N - - WDR47 Pro544Del P544Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ATP5F1 Ile84Val I84V not reviewed Insufficiently evaluated not reviewed unknown Array rs11553285 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -4 - 0 N - - TARS2 Pro387Leu P387L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 7 Y 0 N - - FLG2 Ser877Gly S877G not reviewed Insufficiently evaluated not reviewed unknown Array rs12758459 23 10668 0.00215598 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FLG2 Ser869Phe S869F not reviewed Insufficiently evaluated not reviewed unknown Array rs34309186 4 10682 0.000374461 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CREB3L4 Glu374Lys E374K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.588 - - 0 - 1 N - - NES Thr839Ile T839I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - FCRL1 Ser345Arg S345R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.05 - - 3 - 0 N - - PYHIN1 Arg469Lys R469K not reviewed Insufficiently evaluated not reviewed unknown Array 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CR625159 Ser60Leu S60L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IGSF8 Ala560Val A560V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - VANGL2 Val178Ile V178I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -4 - 0 N - - KLHL20 Asn233Ser N233S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAPPA2 Val347Met V347M not reviewed Insufficiently evaluated not reviewed unknown Array 37 10390 0.00356112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASTN1 Met1095Leu M1095L not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA1614 Asp1110Gly D1110G not reviewed Insufficiently evaluated not reviewed unknown Array 18 10222 0.00176091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 4 Y 2 N - - GLT25D2 Gln385Leu Q385L not reviewed Insufficiently evaluated not reviewed unknown Array rs61743924 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 5 Y 0 N - - HMCN1 Asn1468Ser N1468S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 Y - 0 - 1 N - - HMCN1 Ser4647Gly S4647G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - PRG4 Pro451Leu P451L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - PRG4 Arg925His R925H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - KIF14 Glu1338Val E1338V not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.054 - - 5 Y 0 N - - CAMSAP1L1 Ile837Arg I837R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10746 0.00102364 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CR621662 Phe137Ser F137S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NUP133 Gly854Asp G854D not reviewed Insufficiently evaluated not reviewed unknown Array rs35944758 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - KIAA1383 Asp325Gly D325G not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FMN2 Ser1683Leu S1683L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR6F1 Leu249Phe L249F not reviewed Insufficiently evaluated not reviewed unknown Array rs61730474 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - DIP2C Ile767Met I767M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - -1 - 1 N - - BMS1 Gln363Arg Q363R not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SYT15 LeuLeu16Gly LL16G not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDFY4 Thr553Ser T553S not reviewed Insufficiently evaluated not reviewed unknown Array 36 3234 0.0111317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WDFY4 Thr2947Met T2947M not reviewed Insufficiently evaluated not reviewed unknown Array rs41283303 16 3234 0.00494743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HKDC1 Arg44Gln R44Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CDHR1 Met832Val M832V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - SORBS1 Gly1187Glu G1187E not reviewed Insufficiently evaluated not reviewed unknown Array 205 10758 0.0190556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDCD11 Thr264Met T264M not reviewed Insufficiently evaluated not reviewed unknown Array rs61731093 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - C10ORF79 Arg1264Trp R1264W not reviewed Insufficiently evaluated not reviewed unknown Array 25 10756 0.00232428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NRAP Gln988Pro Q988P not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - C10ORF118 Asn607Asp N607D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DPYSL4 GlyGly563AspCys GG563DC not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PWWP2B Pro86Ala P86A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10404 0.000192233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - 2 - 0 N - - GPR123 Pro1175Thr P1175T not reviewed Insufficiently evaluated not reviewed unknown Array 72 9926 0.00725368 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 4 Y 2 N - - LRRC56 Gln182Lys Q182K not reviewed Insufficiently evaluated not reviewed unknown Array rs61736743 78 10756 0.00725177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.074 - - -2 - 0 N - - LRRC56 Val219Met V219M not reviewed Insufficiently evaluated not reviewed unknown Array 76 9236 0.00822867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - CDHR5 Arg766Gly R766G not reviewed Insufficiently evaluated not reviewed unknown Array 119 10622 0.0112032 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.621 - - 6 Y 1 N - - DEAF1 Ala545Gly A545G not reviewed Insufficiently evaluated not reviewed unknown Array rs34114147 83 10756 0.00771662 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC6 Thr1325Arg T1325R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10716 0.000186636 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC6 Val698Met V698M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC5AC Cys1218Ser C1218S not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYT8 Arg393Cys R393C not reviewed Insufficiently evaluated not reviewed unknown Array 100 10722 0.00932662 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR51G2 Gly204Ser G204S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 2 - 0 N - - DCHS1 Gly1909Val G1909V not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - DCHS1 Ser624Phe S624F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.504 - - 5 Y 1 N - - MRGPRX4 Thr21Ser T21S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - HPS5 Ala81Thr A81T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.009 - Y 1 - 1 N - - BC156059 Asp100Gly D100G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FJX1 Arg374Cys R374C not reviewed Insufficiently evaluated not reviewed unknown Array 1 64 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.841 - - 8 Y 1 N - - OR4X1 Arg120Cys R120C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OR5M8 Asn171Ser N171S not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - SLC22A8 Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FLRT1 Thr395Met T395M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR137 Ala349Val A349V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10756 0.0105058 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CCDC88B Arg594His R594H not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC88B Arg794Gln R794Q not reviewed Insufficiently evaluated not reviewed unknown Array 82 10240 0.00800781 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.695 - - 0 - 1 N - - CCDC88B Ala1060Val A1060V not reviewed Insufficiently evaluated not reviewed unknown Array 75 10756 0.00697285 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 2 - 2 N - - RBM14 Ala493Val A493V not reviewed Insufficiently evaluated not reviewed unknown Array 36 10744 0.00335071 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LRFN4 Arg289Cys R289C not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - NDUFS8 Ala100Val A100V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.014 Y - 2 - 1 N - - KRTAP5-8 Ser7Cys S7C not reviewed Insufficiently evaluated not reviewed unknown Array 70 10720 0.00652985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - INPPL1 Ile623Val I623V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.094 - - -4 - 0 N - - SPCS2 Ile177Val I177V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - -4 - 0 N - - RSF1 Tyr1253Cys Y1253C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - 6 Y 2 N - - FAT3 ProPro13LeuIle PP13LI not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAT3 Arg433Trp R433W not reviewed Insufficiently evaluated not reviewed unknown Array 3 9664 0.00031043 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.416 - - 7 Y 1 N - - DYNC2H1 Asp2252Glu D2252E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DYNC2H1 Phe3649Leu F3649L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9784 0.000204415 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZW10 Arg562His R562H not reviewed Insufficiently evaluated not reviewed unknown Array rs61762985 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - APOA4 Arg304Gln R304Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEP164 Lys116Del K116Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ARHGEF12 Ser182Phe S182F not reviewed Insufficiently evaluated not reviewed unknown Array 17 9756 0.00174252 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 5 Y 1 N - - JAM3 Phe125Leu F125L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR162 Tyr455Cys Y455C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - DDX11 His85Arg H85R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10754 0.00632323 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.438 - - 1 - 1 N - - DDN Arg464His R464H not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PPP1R12A His131Tyr H131Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 9646 0.000518349 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.765 - - -1 - 1 N - - C12ORF26 Ser67Ala S67A not reviewed Insufficiently evaluated not reviewed unknown Array 763 10758 0.070924 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PLXNC1 Arg554Gln R554Q not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - 0 - 0 N - - VEZT Asp551Val D551V not reviewed Insufficiently evaluated not reviewed unknown Array 1 9426 0.000106089 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 8 Y 2 N - - MED13L Val1072Ile V1072I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - -4 - 1 N - - DDX55 Val101Leu V101L not reviewed Insufficiently evaluated not reviewed unknown Array rs17881657 143 10758 0.0132924 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 0 - 2 N - - POLE Arg2165His R2165H not reviewed Insufficiently evaluated not reviewed unknown Array rs5745068 73 10756 0.00678691 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.226 - - 1 - 1 N - - ANKLE2 Ala612Val A612V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 2 - 0 N - - EFHA1 Ile169Val I169V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.017 - - -4 - 0 N - - USPL1 Ser1055Cys S1055C not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - SLC25A15 Arg61His R61H not reviewed Insufficiently evaluated not reviewed unknown Array rs34615430 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.345 Y - 1 - 2 N - - ELF1 Ser350Ala S350A not reviewed Insufficiently evaluated not reviewed unknown Array rs35449414 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C13ORF18 Glu453Lys E453K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC15A1 Tyr31Cys Y31C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR4K1 Arg89Cys R89C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.17 - - 8 Y 0 N - - RNASE3 Arg72Cys R72C not reviewed Insufficiently evaluated not reviewed unknown Array 47 10734 0.00437861 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 8 Y 2 N - - ACIN1 Arg1102Cys R1102C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ACIN1 Ser207Phe S207F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 5 Y 0 N - - ADCY4 Arg350Gln R350Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 0 - 0 N - - FAM179B Val411Gly V411G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - NIN Arg1216Gln R1216Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.709 - - 0 - 1 N - - PTGER2 Cys83Gly C83G not reviewed Insufficiently evaluated not reviewed unknown Array 69 10632 0.00648984 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - C14ORF37 Thr336Asn T336N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNE2 Leu5854Pro L5854P not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - SYNE2 Gln6655Leu Q6655L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NGB Asn45Ser N45S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - PRIMA1 Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.123 - - 0 - 0 N - - ATG2B Ala335Thr A335T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD9 Ile290Val I290V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.386 - - -4 - 1 N - - TDRD9 Ile1236Thr I1236T not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - AHNAK2 Glu825Ala E825A not reviewed Insufficiently evaluated not reviewed unknown Array 2 9934 0.000201328 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - AHNAK2 Gly400Ser G400S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10346 0.00106321 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - MAGEL2 Asp527Asn D527N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLA2G4D Gly503Ser G503S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - STARD9 Gly1242Ser G1242S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TGM7 Thr317Arg T317R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 3 - 2 N - - MAP1A Ala2251Val A2251V not reviewed Insufficiently evaluated not reviewed unknown Array rs28438815 167 9888 0.0168892 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 2 - 2 N - - SHC4 Val617Leu V617L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.421 - - 0 - 1 N - - HDC Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - NARG2 Lys139Arg K139R not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.868 - - -3 - 2 N - - TLN2 Val629Leu V629L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AAGAB Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array 5 9680 0.000516528 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -4 - 2 N - - ITGA11 His1083Arg H1083R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9670 0.000103412 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRAMD2 Arg311Trp R311W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.732 - - 7 Y 1 N - - NRG4 Cys23Phe C23F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 4 Y 2 N - - AKAP13 Ser851Phe S851F not reviewed Insufficiently evaluated not reviewed unknown Array rs35624420 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.358 - - 5 Y 1 N - - AGBL1 Arg112Cys R112C not reviewed Insufficiently evaluated not reviewed unknown Array 315 9864 0.0319343 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 8 Y 2 N - - VPS33B Ser425Asn S425N not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CACNA1H Arg1675Gln R1675Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - NUBP2 Ile114Val I114V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.119 - - -4 - 0 N - - IGFALS Pro526Leu P526L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 7 Y 0 N - - USP7 Ile908Val I908V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SULT1A1 Thr227Met T227M not reviewed Insufficiently evaluated not reviewed unknown Array 27 10752 0.00251116 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 2 - 2 N - - CORO1A Pro366His P366H not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.693 - - 5 Y 1 N - - ZNF843 Arg133Gln R133Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC135 Arg583Trp R583W not reviewed Insufficiently evaluated not reviewed unknown Array 41 10754 0.00381253 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - CNOT1 His1212Leu H1212L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.116 - - 6 Y 0 N - - KIAA0895L Leu45Pro L45P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 7 Y 1 N - - WWOX Arg408Trp R408W not reviewed Insufficiently evaluated not reviewed unknown Array 1 9976 0.00010024 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 7 Y 0 N - - CDYL2 Val195Met V195M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKD1L2 Ser1155Leu S1155L not reviewed Insufficiently evaluated not reviewed unknown Array 65 9772 0.00665166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PKD1L2 Arg849His R849H not reviewed Insufficiently evaluated not reviewed unknown Array rs1869349 275 10246 0.0268397 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKD1L2 Gln250Arg Q250R not reviewed Insufficiently evaluated not reviewed unknown Array 253 10402 0.0243222 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF469 Pro2490His P2490H not reviewed Insufficiently evaluated not reviewed unknown Array 16 3226 0.0049597 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - OR3A1 Phe34Ile F34I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.673 - - 2 - 1 N - - TRPV1 Met541Leu M541L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MYBBP1A Asp120His D120H not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.784 - - 3 - 1 N - - DNAH2 Pro4325Arg P4325R not reviewed Insufficiently evaluated not reviewed unknown Array 291 10758 0.0270496 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TMEM88 Val100Gly V100G not reviewed Insufficiently evaluated not reviewed unknown Array rs61739615 26 10750 0.0024186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 8 Y 0 N - - PER1 Pro37Ser P37S not reviewed Insufficiently evaluated not reviewed unknown Array rs72845601 150 10758 0.0139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 3 - 2 N - - WDR16 His63GlnAla H63QA not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDRT15 Ile82Leu I82L not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - LGALS9C Cys40Ser C40S not reviewed Insufficiently evaluated not reviewed unknown Array rs1682207 4 64 0.0625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PIGS Arg185Cys R185C not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 8 Y 2 N - - LRRC37B Thr14Met T14M not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC45B Asn326Ser N326S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - SYNRG Asp746Asn D746N not reviewed Insufficiently evaluated not reviewed unknown Array 121 10758 0.0112474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -1 - 2 N - - KRTAP4-3 Gln31Leu Q31L not reviewed Insufficiently evaluated not reviewed unknown Array rs12953139 572 10724 0.0533383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - COASY Leu475Arg L475R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - FAM134C Arg252Pro R252P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.926 - - 5 Y 2 N - - C17ORF65 Arg108Gln R108Q not reviewed Insufficiently evaluated not reviewed unknown Array 149 9466 0.0157405 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPATCH8 Gln1001Leu Q1001L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 5 Y 2 N - - CRHR1 Arg165His R165H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF2B Pro91Leu P91L not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 7 Y 0 N - - SEPT4 Arg400Trp R400W not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - USP32 Arg1114Gln R1114Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 0 - 1 N - - ABCA10 Arg332Gly R332G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.532 - - 6 Y 1 N - - OTOP3 Arg495His R495H not reviewed Insufficiently evaluated not reviewed unknown Array rs35702634 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - TMC8 Arg466Trp R466W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - RNF213 Trp2750Leu W2750L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741961 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MRPL12 Cys45Arg C45R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 8 Y 0 N - - DCXR Arg120Ser R120S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 3 - 0 N - - TXNDC2 Ala100Thr A100T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DSG3 Arg575Trp R575W not reviewed Insufficiently evaluated not reviewed unknown Array rs61730311 87 10758 0.008087 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 7 Y 1 N - - PHLPP1 Cys56Arg C56R not reviewed Insufficiently evaluated not reviewed unknown Array 34 10266 0.0033119 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMX3 Phe181Leu F181L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - TCF7L1 Leu120Pro L120P not reviewed Insufficiently evaluated not reviewed unknown Array rs35354874 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP8B3 Gln1114His Q1114H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_152988 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EVI5L Asn356Ser N356S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.676 - - 0 - 1 N - - MUC16 Asp4992Gly D4992G not reviewed Insufficiently evaluated not reviewed unknown Array 7 9804 0.000713994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF426 Gln103Glu Q103E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - -2 - 0 N - - DNMT1 His1460Gln H1460Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - -1 - 2 N - - SLC44A2 Leu153Phe L153F not reviewed Insufficiently evaluated not reviewed unknown Array 53 10758 0.00492657 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - YIPF2 Arg193His R193H not reviewed Insufficiently evaluated not reviewed unknown Array 150 10756 0.0139457 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - C19ORF57 Thr165Met T165M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE4C Pro308Ala P308A not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - 2 - 0 N - - GMIP Asp641Asn D641N not reviewed Insufficiently evaluated not reviewed unknown Array rs12003 264 10758 0.0245399 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF85 Arg269Gln R269Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10716 0.000839865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF254 Asp93Gly D93G not reviewed Insufficiently evaluated not reviewed unknown Array rs17854260 168 10664 0.0157539 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DPY19L3 Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LSM14A Arg238Gln R238Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36006556 225 10758 0.0209147 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.454 - - 0 - 1 N - - ZNF30 Phe261Leu F261L not reviewed Insufficiently evaluated not reviewed unknown Array 209 10622 0.0196761 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SBSN Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR62 Ala1271Val A1271V not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITPKC Gly55Arg G55R not reviewed Insufficiently evaluated not reviewed unknown Array 24 6378 0.00376294 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 6 Y 2 N - - EGLN2 Ala108Thr A108T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 1 - 0 N - - B9D2 Cys175Tyr C175Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 6 Y 2 N - - CIC Pro748His P748H not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.793 - - 5 Y 1 N - - TPRX1 Asn247Ile N247I not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPRX1 Gly245Val G245V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TPRX1 Pro234Leu P234L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9920 0.000302419 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLA2G4C Ala127Val A127V not reviewed Insufficiently evaluated not reviewed unknown Array rs11564532 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NTF4 Arg209Gln R209Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - SLC17A7 Arg558Gln R558Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10744 0.00214073 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC4B Asn425Ser N425S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - ZNF614 Val101Met V101M not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - ZNF836 Arg902His R902H not reviewed Insufficiently evaluated not reviewed unknown Array rs61744685 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 1 - 2 N - - AK127846 Pro343Leu P343L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OSCAR Gly7Ser G7S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LILRB4 Pro378Ser P378S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10754 0.00306862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NLRP2 Leu920Val L920V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - ZNF587 Ser156Pro S156P not reviewed Insufficiently evaluated not reviewed unknown Array rs61735225 573 9632 0.0594892 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.707 - - 3 - 0 N - - PXDN IleAsp1114MetAsn ID1114MN not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GALNT14 Asp158Asn D158N not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -1 - 2 N - - LRPPRC Glu674Lys E674K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.293 Y - 0 - 2 N - - MALL Thr99Pro T99P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - MERTK Arg293His R293H not reviewed Insufficiently evaluated not reviewed unknown Array rs34072093 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - NR_003947 Phe186Leu F186L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCKAP5 His465Tyr H465Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61746268 82 9756 0.00840508 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - -1 - 2 N - - MGAT5 His575Arg H575R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MBD5 Lys311Thr K311T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 3 - 1 N - - NMI Glu306Lys E306K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.07 - - 0 - 0 N - - GALNT13 Lys37Arg K37R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PDE11A Trp102Cys W102C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - NDUFB3 Val61Ala V61A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.153 - - 2 - 0 N - - AK130065 Thr61Asn T61N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NBEAL1 Ser476Thr S476T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IDH1 Phe32Val F32V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - 3 - 1 N - - RNF25 Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - FARSB Ala93Pro A93P not reviewed Insufficiently evaluated not reviewed unknown Array 16 10734 0.00149059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SP140L Asp235Gly D235G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 4 Y 2 N - - ALPP Arg263His R263H not reviewed Insufficiently evaluated not reviewed unknown Array rs71421640 884 10756 0.0821867 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - CXCR7 His298Tyr H298Y not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - BC047423 Met115Val M115V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AF451986 Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRAF3IP1 Glu260Lys E260K not reviewed Insufficiently evaluated not reviewed unknown Array 57 10750 0.00530232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP1R7 Tyr86Cys Y86C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SDCBP2 Arg191Gln R191Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35367003 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 0 - 2 N - - C20ORF186 Arg30Gln R30Q not reviewed Insufficiently evaluated not reviewed unknown Array rs13036385 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMP24 Phe64Gly F64G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EIF6 Val26Leu V26L not reviewed Insufficiently evaluated not reviewed unknown Array rs1802241 130 10716 0.0121314 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - C20ORF4 Ala365Thr A365T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZHX3 Gln762Arg Q762R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 0 - 1 N - - PI3 Lys36Asn K36N not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.234 - - 1 - 1 N - - ZNF335 Arg444Cys R444C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - BMP7 Asn321Ser N321S not reviewed Insufficiently evaluated not reviewed unknown Array rs61733438 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC037891 Phe97Ile F97I not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LAMA5 Asp2372Asn D2372N not reviewed Insufficiently evaluated not reviewed unknown Array 70 10650 0.00657277 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.175 - - -1 - 0 N - - TPTE Arg276Gln R276Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TIAM1 Lys1516Glu K1516E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 0 - 0 N - - C21ORF59 Val208Met V208M not reviewed Insufficiently evaluated not reviewed unknown Array rs61735781 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SON Thr694Ala T694A not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 1 - 2 N - - TTC3 Leu353Val L353V not reviewed Insufficiently evaluated not reviewed unknown Array rs61999340 401 10758 0.0372746 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 0 - 1 N - - TFF1 Glu25Lys E25K not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CECR5 Thr179Met T179M not reviewed Insufficiently evaluated not reviewed unknown Array rs35665085 441 10758 0.0409927 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - AB020626 Pro626Thr P626T not reviewed Insufficiently evaluated not reviewed unknown Array rs45518631 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - THAP7 Glu69Gln E69Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC7A4 Val62Met V62M not reviewed Insufficiently evaluated not reviewed unknown Array 45 10750 0.00418605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - BCR Val949Ile V949I not reviewed Insufficiently evaluated not reviewed unknown Array rs2229038 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C22ORF30 Thr1484Arg T1484R not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXRED2 Val177Ile V177I not reviewed Insufficiently evaluated not reviewed unknown Array rs9610522 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -4 - 0 N - - CSF2RB Ala645Val A645V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10570 9.4607e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIOBP Thr496Ala T496A not reviewed Insufficiently evaluated not reviewed unknown Array 1 52 0.0192308 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.96 Y - 1 - 3 N - - APOBEC3B Arg212Cys R212C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10714 0.000280007 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.76 - - 8 Y 1 N - - ATF4 Asp152Asn D152N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.776 - - -1 - 1 N - - TNRC6B Asn674Ser N674S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SREBF2 Arg1049His R1049H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - CRELD2 Gln92His Q92H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SETMAR Ile239Thr I239T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CRELD1 Leu399Pro L399P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 7 Y 1 N - - PRRT3 His174Tyr H174Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - IRAK2 Val389Leu V389L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - TBC1D5 Tyr375Cys Y375C not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - PDCD6IP Gln427His Q427H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -1 - 0 N - - XYLB Glu349Lys E349K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ULK4 Val963Met V963M not reviewed Insufficiently evaluated not reviewed unknown Array 29 9976 0.00290698 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - ULK4 Val686Ile V686I not reviewed Insufficiently evaluated not reviewed unknown Array 34 9860 0.00344827 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.563 - - -4 - 1 N - - CCR5 Leu55Gln L55Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1799863 191 10750 0.0177674 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - LAMB2 Ala1765Thr A1765T not reviewed Insufficiently evaluated not reviewed unknown Array 235 10758 0.0218442 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - RAD54L2 Pro894Leu P894L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - RAD54L2 Asp1052Asn D1052N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SUCLG2 Lys101Arg K101R not reviewed Insufficiently evaluated not reviewed unknown Array 69 9538 0.00723422 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.107 - - -3 - 0 N - - DRD3 Arg254Cys R254C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - PLXNA1 Leu1176His L1176H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 6 Y 0 N - - PLXNA1 Val1178Leu V1178L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRH Pro188Leu P188L not reviewed Insufficiently evaluated not reviewed unknown Array rs35004321 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NUDT16 Leu36Val L36V not reviewed Insufficiently evaluated not reviewed unknown Array 78 10752 0.00725446 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MRPL3 Gly311Ser G311S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZBTB38 Ala258Val A258V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10070 0.000397219 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 2 - 0 N - - SI Asp1617His D1617H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NDUFB5 Thr34Pro T34P not reviewed Insufficiently evaluated not reviewed unknown Array rs35399127 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 4 Y 2 N - - CCDC39 Phe553Leu F553L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HTR3D Gly204Ser G204S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EHHADH Ser703Phe S703F not reviewed Insufficiently evaluated not reviewed unknown Array rs55752621 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATP13A3 Ile1116Phe I1116F not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LSG1 Thr299Ala T299A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - MUC4 Ile4782Thr I4782T not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC4 Ala1673Val A1673V not reviewed Insufficiently evaluated not reviewed unknown Array 77 3218 0.0239279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Thr1670Asn T1670N not reviewed Insufficiently evaluated not reviewed unknown Array 1 8 0.125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MUC4 Ser1669Asp S1669D not reviewed Insufficiently evaluated not reviewed unknown Array 1 16 0.0625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TNK2 GluAsp762AlaPro ED762AP not reviewed Insufficiently evaluated not reviewed unknown Array 1 70 0.0142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF721 Pro23Ser P23S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10464 0.00105122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GRK4 Gly102Ser G102S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGS12 Lys1178Ile K1178I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - HGFAC Arg241Gln R241Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10634 0.000282113 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.717 - - 0 - 1 N - - C4ORF50 Arg83Trp R83W not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAN2B2 Arg374Gln R374Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BOD1L Gln1497Arg Q1497R not reviewed Insufficiently evaluated not reviewed unknown Array rs61995956 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 0 - 2 N - - NCAPG Ala971Val A971V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LCORL Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array 1 76 0.0131579 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - 2 - 2 N - - GPR125 Ser1280Pro S1280P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.687 - - 3 - 1 N - - FRYL Leu1645Pro L1645P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.881 - - 7 Y 2 N - - UGT2B10 Arg181Lys R181K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ENAM Val466Ile V466I not reviewed Insufficiently evaluated not reviewed unknown Array 20 10696 0.00186986 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C4ORF26 Ser93Pro S93P not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCNG2 Ile236Val I236V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DMP1 Leu282Ile L282I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.135 Y - -2 - 1 N - - BANK1 Arg604Gln R604Q not reviewed Insufficiently evaluated not reviewed unknown Array 173 10758 0.0160811 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - SLC39A8 Pro249Ala P249A not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.253 - - 2 - 1 N - - FAT4 Met3518Ile M3518I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.368 - - -1 - 1 N - - SC4MOL Arg134Ile R134I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 7 Y 0 N - - DDX60 Ile355Val I355V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - NEIL3 Ala547Ser A547S not reviewed Insufficiently evaluated not reviewed unknown Array rs36005630 38 10754 0.00353357 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - -1 - 2 N - - AGA Val12Leu V12L not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PLEKHG4B Lys901Arg K901R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - -3 - 2 N - - CCDC127 Ala86Thr A86T not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - 1 - 2 N - - BRD9 Ser275Leu S275L not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C5ORF22 Val127Ala V127A not reviewed Insufficiently evaluated not reviewed unknown Array rs34357988 24 10748 0.00223297 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ERBB2IP His1045Tyr H1045Y not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -1 - 2 N - - IQGAP2 Pro163Thr P163T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CMYA5 Ser1725Leu S1725L not reviewed Insufficiently evaluated not reviewed unknown Array rs17254174 52 9602 0.00541554 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 6 Y 0 N - - MSH3 Asp875Asn D875N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MCTP1 Gly876Arg G876R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - ZRSR1 Leu378Phe L378F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF608 GlnTyr1104ThrIle QY1104TI not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ACSL6 Arg412Cys R412C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FSTL4 Glu353Asp E353D not reviewed Insufficiently evaluated not reviewed unknown Array rs61741674 590 10758 0.0548429 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.993 - - -2 - 1 N - - FSTL4 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array rs17683306 819 10758 0.0761294 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - SEC24A Gln729His Q729H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.138 - - -1 - 0 N - - SPINK9 Gln42Lys Q42K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - -2 - 1 N - - SLC36A2 Gly87Val G87V not reviewed Insufficiently evaluated not reviewed unknown Array 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HAVCR2 Gln175Arg Q175R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GABRA1 Ile89Val I89V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.027 Y - -4 - 1 N - - GRM6 Val243Phe V243F not reviewed Insufficiently evaluated not reviewed unknown Array rs17078894 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.418 Y - 3 - 2 N - - RREB1 Lys41Arg K41R not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RREB1 Glu743Lys E743K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM38 Pro463Gln P463Q not reviewed Insufficiently evaluated not reviewed unknown Array 6 10748 0.000558243 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 4 Y 2 N - - OR2H1 Trp147Arg W147R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 7 Y 2 N - - EHMT2 Gly1203Ser G1203S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TNXB Val1822Met V1822M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - HLA-DRA Phe178Leu F178L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAP2 Gln330Arg Q330R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRFN2 Leu530Pro L530P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ABCC10 Arg261His R261H not reviewed Insufficiently evaluated not reviewed unknown Array rs45480693 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.13 - - 1 - 0 N - - TDRD6 Arg1051Ser R1051S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - DST Arg773Trp R773W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CD109 Val1009Met V1009M not reviewed Insufficiently evaluated not reviewed unknown Array rs35630075 151 10758 0.0140361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.967 - - 0 - 2 N - - COL12A1 Thr2197Ile T2197I not reviewed Insufficiently evaluated not reviewed unknown Array 91 9750 0.00933333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SENP6 Glu897Gly E897G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 2 N - - LYRM2 Tyr44Phe Y44F not reviewed Insufficiently evaluated not reviewed unknown Array 77 10756 0.00715879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - -4 - 2 N - - LAMA4 Arg103Trp R103W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - RSPH4A Gly199Val G199V not reviewed Insufficiently evaluated not reviewed unknown Array 1 74 0.0135135 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - ENPP1 Ser235Phe S235F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAAR1 Val94Leu V94L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR126 Glu890Lys E890K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UTRN Gln2900Glu Q2900E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ESR1 Glu56Gln E56Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -2 - 2 N - - ZDHHC14 Asn52Ser N52S not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - IGF2R Asn1126Ser N1126S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - LPA Thr1003Ile T1003I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPER Val264Ala V264A not reviewed Insufficiently evaluated not reviewed unknown Array rs3808352 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.272 - - 2 - 1 N - - NUDT1 Gln7Glu Q7E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IQCE Pro686Leu P686L not reviewed Insufficiently evaluated not reviewed unknown Array 131 10456 0.0125287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 7 Y 2 N - - KIAA0415 Arg294Gln R294Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 9734 0.00205465 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - BBS9 Ser788Phe S788F not reviewed Insufficiently evaluated not reviewed unknown Array rs61753526 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.665 - Y 5 Y 2 N - - SUMF2 Asn197Thr N197T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LMTK2 Glu1347Lys E1347K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 0 - 0 N - - ZNF394 Cys317Arg C317R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 8 Y 1 N - - MUC17 Ser1198Thr S1198T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FIS1 Asn105Ser N105S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.022 - - 0 - 0 N - - CAPZA2 Arg259Ser R259S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - CTTNBP2 Ala920Ser A920S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - -1 - 2 N - - MKRN1 Arg103Leu R103L not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRBA1 Arg584Trp R584W not reviewed Insufficiently evaluated not reviewed unknown Array 1 9826 0.00010177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GIMAP6 Val262Met V262M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - 0 - 1 N - - BC040865 Pro127Ser P127S not reviewed Insufficiently evaluated not reviewed unknown Array 126 3234 0.038961 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOM1 Val692Ile V692I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.576 - - -4 - 1 N - - ERICH1 Thr219Ile T219I not reviewed Insufficiently evaluated not reviewed unknown Array rs61741834 253 10758 0.0235174 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.569 - - 3 - 1 N - - MTUS1 Lys644Gln K644Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 9708 0.00587145 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.018 - - -2 - 0 N - - FGL1 Met114Val M114V not reviewed Insufficiently evaluated not reviewed unknown Array rs35311020 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - ENTPD4 Asn83Ser N83S not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - KCTD9 Gly127Arg G127R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.94 - - 6 Y 2 N - - KIF13B Ala334Thr A334T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - 1 - 0 N - - STAR Arg62Gln R62Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 0 - 1 N - - NSMAF Arg176Cys R176C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TOX Asn122Ser N122S not reviewed Insufficiently evaluated not reviewed unknown Array rs61753688 202 10758 0.0187767 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.852 - - 0 - 2 N - - DNAJC5B Arg11Gln R11Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - 0 - 0 N - - E2F5 Ile292Thr I292T not reviewed Insufficiently evaluated not reviewed unknown Array 20 9610 0.00208117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CA3 Thr199Met T199M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - PSKH2 Arg52Pro R52P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - RAD54B Asp880Gly D880G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10756 0.00241725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PKHD1L1 Asn4164Asp N4164D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -1 - 0 N - - TMEM71 Arg62Cys R62C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 2 0 2 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RHPN1 Arg528Trp R528W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SCRIB His1217Pro H1217P not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.949 - - 5 Y 2 N - - EPPK1 Arg721Cys R721C not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLEC Ala4605Thr A4605T not reviewed Insufficiently evaluated not reviewed unknown Array 39 9968 0.00391252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Arg1154Gln R1154Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADCK5 Gly118Ala G118A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC39A4 Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 259 10602 0.0244294 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FOXH1 Arg23Met R23M not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - TTC39B Val425Met V425M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ADAMTSL1 Glu594Lys E594K not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUSC1 Gln174Leu Q174L not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.831 - - 5 Y 1 N - - TUSC1 Leu173Gln L173Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 5 Y 1 N - - AQP7 Gly264Val G264V not reviewed Insufficiently evaluated not reviewed unknown Array rs62542743 397 10758 0.0369028 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - SPAG8 Asp37Ala D37A not reviewed Insufficiently evaluated not reviewed unknown Array 22 10754 0.00204575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM75D1 Pro196Thr P196T not reviewed Insufficiently evaluated not reviewed unknown Array 134 9760 0.0137295 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 4 Y 2 N - - SPIN1 Pro200Gln P200Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.249 - - 4 Y 1 N - - C9ORF174 Lys279Arg K279R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C9ORF125 Arg16Trp R16W not reviewed Insufficiently evaluated not reviewed unknown Array 1 102 0.00980392 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SMC2 Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GGTA1 Gly137Ser G137S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - Y 2 - 2 N - - OR1L6 Phe140Leu F140L not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - OR5C1 Phe161Ile F161I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.291 - - 2 - 1 N - - PPP2R4 Arg106Gly R106G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SNAPC4 Asp1402Gly D1402G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 4 Y 1 N - - SEC16A Pro43Leu P43L not reviewed Insufficiently evaluated not reviewed unknown Array 2 9802 0.000204039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LCN10 Gly115Cys G115C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NPDC1 Arg176Gln R176Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.526 - - 0 - 1 N - - BC093994 Val12Met V12M not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHKA2 Glu38Gln E38Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17313469 211 8761 0.024084 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - -2 - 1 N - - MAGEB1 Cys76Phe C76F not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.874 - - 4 Y 2 N - - CXORF38 Thr210Met T210M not reviewed Insufficiently evaluated not reviewed unknown Array rs34678039 73 8761 0.00833238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VSIG4 Gly279Glu G279E not reviewed Insufficiently evaluated not reviewed unknown Array rs17315645 186 8761 0.0212305 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - NHSL2 Leu114Pro L114P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LUZP4 Glu155Ala E155A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PLS3 Ile309Val I309V not reviewed Insufficiently evaluated not reviewed unknown Array 10 8761 0.00114142 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - XPNPEP2 Val223Ile V223I not reviewed Insufficiently evaluated not reviewed unknown Array rs61733030 68 8753 0.00776876 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAP7D3 Glu443Gly E443G not reviewed Insufficiently evaluated not reviewed unknown Array 5 7932 0.000630358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 6 Y 1 N - - SPANXE Leu42Met L42M not reviewed Insufficiently evaluated not reviewed unknown Array 1 85 0.0117647 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SPANXE Tyr32Asp Y32D not reviewed Insufficiently evaluated not reviewed unknown Array 29 8706 0.00333104 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GABRE Cys353Tyr C353Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - BGN Lys86Arg K86R not reviewed Insufficiently evaluated not reviewed unknown Array 110 8761 0.0125556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - H6PD Leu490Pro L490P not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 Y Y 7 Y 4 N - - ARHGEF19 Gln270Stop Q270X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA0494 Asp38Shift D38Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACADM Glu47Lys E47K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - OLFML3 Gln165Shift Q165Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Ser1207Tyr S1207Y not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - KCNT2 Ser59Shift S59Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMB3 Gln1061Shift Q1061Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - USH2A His308Shift H308Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - RYR2 Ala1136Val A1136V not reviewed Insufficiently evaluated not reviewed unknown Array rs72549415 91 10358 0.00878548 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - LDB3 Ser432Tyr S432Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.831 Y Y 5 Y 3 N - - H19 Arg74Gln R74Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SBF2 Cys656Ser C656S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 3 - 4 N - - ANO5 Gln190Shift Q190Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PC Val528Ile V528I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - ATM Met94Shift M94Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SCN3B Glu85Shift E85Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DDX47 Pro246Shift P246Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OSBPL8 Lys607Shift K607Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DAO Gln115Shift Q115Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DIABLO Gln173Shift Q173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GJB2 Arg127His R127H not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SACS Glu3728Gly E3728G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 6 Y 4 N - - MYH7 Met1046Ile M1046I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y -1 - 4 N - - AKAP6 Lys689Shift K689Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MBIP Asn177Shift N177Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNE2 Ile3035Shift I3035Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GOLGA6L1 Gln528Stop Q528X not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HERC2 Thr132Shift T132Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FMN1 Glu754Lys E754K not reviewed Insufficiently evaluated not reviewed unknown Array 161 9570 0.0168234 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - CDAN1 Ser285Gly S285G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - SPG11 Gly14Ser G14S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FBN1 Gln117His Q117H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NM_032802 Leu236Shift L236Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TPSAB1 Pro111Shift P111Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 68 0.0147059 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SETD1A Arg740Shift R740Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CMTM1 Arg143Shift R143Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRMT7 Pro157Shift P157Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAMTS18 Ala696Shift A696Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPG7 Ala510Val A510V pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs61755320 39 10758 0.00362521 1 0 1 1 1 0 - - - 0 - 1 - 3 - 3 - Y - - - 0.976 Y Y 2 - 4 N 1 0 Reported by several contributors to ClinVar as causing spastic paraplegia in a recessive manner. The variant is very common, and for homozygous individuals it's possible that penetrance is low and/or the disease is mild and undiagnosed. BC160930 Cys163Shift C163Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 22 0.0454545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT34 Leu243Shift L243Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SCN4A Arg18Ser R18S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10414 0.000960245 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y Y 3 - 4 N - - C1QTNF1 Gly126Shift G126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1632 Leu1409Shift L1409Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FECH Glu127Gly E127G not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - NOTCH3 Pro2204Leu P2204L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.288 Y Y 7 Y 3 N - - NM_014727 Lys374Shift K374Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BCAM Ser447Leu S447L not reviewed Insufficiently evaluated not reviewed unknown Array 227 10758 0.0211006 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.051 Y - 6 Y 1 N - - CLASRP Ser491Shift S491Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SIX5 Ala402Val A402V not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.149 Y Y 2 - 2 N - - ACP1 Gln106Stop Q106X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MATN3 Asn126Ile N126I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y Y 7 Y 4 N - - APOB Glu2751Stop E2751X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - OTOF Cys1251Gly C1251G not reviewed Insufficiently evaluated not reviewed unknown Array rs41288773 145 10756 0.0134808 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.006 Y Y 7 Y 2 N - - EXOC6B Arg239Shift R239Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALMS1 Ser2100Leu S2100L not reviewed Insufficiently evaluated not reviewed unknown Array rs28730854 222 9566 0.0232072 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - DNAH6 Pro54Shift P54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HOXD13 Tyr200Ser Y200S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 5 Y 3 N - - TTN Leu15669Pro L15669P not reviewed Insufficiently evaluated not reviewed unknown Array 8 9810 0.000815494 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Arg14753His R14753H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - DSCAM Val217Shift V217Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLAC4 Arg42Shift R42Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5019194 1 124 0.00806452 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIOBP Arg1078Cys R1078C not reviewed Insufficiently evaluated not reviewed unknown Array 21 9650 0.00217617 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y - 8 Y 3 N - - ENTHD1 Pro369Shift P369Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNFRSF13C His159Tyr H159Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61756766 55 10756 0.00511343 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.994 Y Y -1 - 4 N - - EFHB Glu172Stop E172X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - GRM2 Lys427Shift K427Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATG3 Ala65Shift A65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LRRC34 Asn235Shift N235Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EXOC1 Glu754Shift E754Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MFSD8 Phe379Ser F379S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y 5 Y 2 N - - CBR4 Gln145Stop Q145X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WWC2 Glu878Shift E878Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH5 Arg3000Gln R3000Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.754 Y Y 0 - 3 N - - GPR98 Val2203Ala V2203A not reviewed Insufficiently evaluated not reviewed unknown Array 19 9566 0.0019862 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.932 Y Y 2 - 4 N - - FOXC1 Gly121Val G121V not reviewed Insufficiently evaluated not reviewed unknown Array 1 84 0.0119048 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 8 Y 3 N - - RIPK1 Glu55Shift E55Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TDRD6 Met1520Shift M1520Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IRAK1BP1 Cys129Stop C129X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC35A1 Thr45Ala T45A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.962 Y Y 1 - 4 N - - LAMA2 Pro564Shift P564Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ZNF273 Asn194Shift N194Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PEX1 Gln38His Q38H not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y -1 - 2 N - - PCOLCE Leu19Shift L19Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TAS2R40 Gln295Stop Q295X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NEFL Asp468Asn D468N not reviewed Insufficiently evaluated not reviewed unknown Array rs57153321 15 9934 0.00150997 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NRG1 Ser470Shift S470Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C8ORF41 Val291Shift V291Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EYA1 Ser487Leu S487L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.02 Y Y 6 Y 2 N - - PDCD1LG2 Glu11Shift E11Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLDC Arg216Gly R216G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - MRPS2 Arg180Shift R180Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF41 Gly219Arg G219R not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - DKC1 Lys505LysLys K505KK not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - TAS1R3 Ala733Val A733V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLCH2 Met237Thr M237T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHG5 Glu773Lys E773K not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - SLC2A5 Leu15Val L15V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - PADI3 Pro143Ser P143S not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.283 - - 3 - 1 N - - C1ORF201 Pro202Leu P202L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDTC1 Thr616Arg T616R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AHDC1 Arg728Trp R728W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - GMEB1 Val8Gly V8G not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 8 Y 2 N - - ZMYM1 Lys1018Glu K1018E not reviewed Insufficiently evaluated not reviewed unknown Array 3 9520 0.000315126 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - KIAA0467 Glu18Lys E18K not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0467 Met2118Val M2118V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 0 - 2 N - - C8A Tyr327Phe Y327F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.177 - - -4 - 0 N - - BCAR3 Phe6Tyr F6Y not reviewed Insufficiently evaluated not reviewed unknown Array 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 2 N - - GNAT2 Val124Met V124M not reviewed Insufficiently evaluated not reviewed unknown Array rs41280330 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 - Y 0 - 1 N - - CHI3L2 Asn126Asp N126D not reviewed Insufficiently evaluated not reviewed unknown Array rs35041930 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -1 - 0 N - - CHIA Phe377Leu F377L not reviewed Insufficiently evaluated not reviewed unknown Array rs36011905 343 10758 0.0318832 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - IGSF3 Arg884Gln R884Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTF2 Arg838His R838H not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - BCL9 Pro332Leu P332L not reviewed Insufficiently evaluated not reviewed unknown Array rs61751616 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MEF2D Ser321Asn S321N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.49 - - 0 - 1 N - - SPTA1 Thr1522Ala T1522A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10072 9.9285e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFI16 Arg203Cys R203C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.747 - - 8 Y 1 N - - CCDC19 His433Arg H433R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLAMF6 Val274Ile V274I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SLAMF7 Arg203Ser R203S not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ITLN2 Tyr146His Y146H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.622 - - -1 - 1 N - - PRRC2C Thr2166Ala T2166A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 1 - 0 N - - GLT25D2 Ala151Val A151V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.224 - - 2 - 1 N - - FAM129A Ser681Leu S681L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CFHR2 Tyr264Cys Y264C not reviewed Insufficiently evaluated not reviewed unknown Array rs41310132 138 10748 0.0128396 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - GOLT1A Thr44Met T44M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.188 - - 2 - 0 N - - SLC45A3 Asp133His D133H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - ANGEL2 Gln431Lys Q431K not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAB3GAP2 Arg420Cys R420C not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - OBSCN Arg2226Gln R2226Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - DUSP5P Gly134Arg G134R not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - URB2 Leu583Val L583V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.655 - - 0 - 1 N - - EXO1 Ser91Phe S91F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.939 - - 5 Y 2 N - - AKR1C3 Asp112Glu D112E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP6NL Pro412Leu P412L not reviewed Insufficiently evaluated not reviewed unknown Array 171 9680 0.0176653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRPF18 Glu53Gly E53G not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.127 - - 6 Y 0 N - - ACBD7 Ile37Arg I37R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 7 Y 1 N - - KIAA1217 Arg46Cys R46C not reviewed Insufficiently evaluated not reviewed unknown Array rs61850390 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ANKRD26 Val1219Ile V1219I not reviewed Insufficiently evaluated not reviewed unknown Array 83 9542 0.00869839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.637 - - -4 - 1 N - - CCNY Ala19Val A19V not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP26C1 Ala465Val A465V not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 2 - 2 N - - DNTT Asp280His D280H not reviewed Insufficiently evaluated not reviewed unknown Array rs41291616 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGEA5 Ala51Thr A51T not reviewed Insufficiently evaluated not reviewed unknown Array rs35402016 29 9284 0.00312365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HPS6 Leu233Arg L233R not reviewed Insufficiently evaluated not reviewed unknown Array rs36078476 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.509 - Y 6 Y 2 N - - TMEM180 Arg328His R328H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 1 - 2 N - - VTI1A Ser76Asn S76N not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNK18 Ser252Leu S252L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - FAM53B Ala391Val A391V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10730 0.00130475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Pro1409ProThrThrThrProSerProPro P1409PTTTPSPP not reviewed Insufficiently evaluated not reviewed unknown Array 2 52 0.0384615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR52I1 Ser213Pro S213P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - OR51T1 Arg151His R151H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR52E6 Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array rs61735020 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 1 - 2 N - - MYOD1 Asp45Gly D45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ELP4 Pro191Gln P191Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 9462 0.00243077 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 4 Y 0 N - - SYT13 Val195Ile V195I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR4C13 Cys209Phe C209F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PGA4 Ala265Thr A265T not reviewed Insufficiently evaluated not reviewed unknown Array 1 108 0.00925926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C11ORF66 Gly200Ser G200S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SYT12 Ala417Thr A417T not reviewed Insufficiently evaluated not reviewed unknown Array 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - PITPNM1 Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC131767 Arg27His R27H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NUMA1 Gln1089Glu Q1089E not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.037 - - -2 - 0 N - - FCHSD2 Ser683Leu S683L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.966 - - 6 Y 2 N - - RELT Arg145Trp R145W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - UCP3 Met163Val M163V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - PICALM Ile34Met I34M not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MTNR1B Arg138Cys R138C not reviewed Insufficiently evaluated not reviewed unknown Array rs61746674 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.924 - - 8 Y 2 N - - AMOTL1 Thr179Met T179M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.128 - - 2 - 0 N - - MCAM Val578Ile V578I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - SC5DL Lys64Glu K64E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.207 Y - 0 - 2 N - - SNX19 Thr196Ala T196A not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - SLC6A13 Leu539Val L539V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOXM1 Pro673Leu P673L not reviewed Insufficiently evaluated not reviewed unknown Array rs28919870 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.863 - - 7 Y 2 N - - CHD4 Ala1383Thr A1383T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - 1 - 0 N - - CLEC1B Ser162Tyr S162Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 5 Y 2 N - - TAS2R43 Phe116Leu F116L not reviewed Insufficiently evaluated not reviewed unknown Array 922 9354 0.0985675 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TMEM106C Val174Ile V174I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - PFKM Arg376Gln R376Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.111 Y - 0 - 1 N - - CCNT1 His616Arg H616R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - ADCY6 Arg138His R138H not reviewed Insufficiently evaluated not reviewed unknown Array 205 10756 0.0190591 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - DIP2B Gly1273Glu G1273E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 6 Y 0 N - - ATF1 Pro191Ala P191A not reviewed Insufficiently evaluated not reviewed unknown Array rs2230674 232 10758 0.0215653 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - Y 2 - 3 N - - KRT71 Leu514Pro L514P not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 7 Y 0 N - - CSAD Arg75Gly R75G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - IKZF4 Gly14Ser G14S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10158 0.00236267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - LRP1 Ala775Pro A775P not reviewed Insufficiently evaluated not reviewed unknown Array rs34714459 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INHBC Leu43Phe L43F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.882 - - 0 - 2 N - - INHBE Pro27Leu P27L not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - B4GALNT1 Gly265Arg G265R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.484 - - 6 Y 1 N - - C12ORF49 Leu31Phe L31F not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC64 Glu236Asp E236D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB9 Ile551Asn I551N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.969 - - 7 Y 2 N - - PITPNM2 Pro9Leu P9L not reviewed Insufficiently evaluated not reviewed unknown Array rs17884869 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 7 Y 0 N - - NM_001083900 Met1518Val M1518V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOR2 Arg2000Cys R2000C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DHX37 Lys1076Thr K1076T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 3 - 1 N - - ANKLE2 Ser647Asn S647N not reviewed Insufficiently evaluated not reviewed unknown Array 112 9764 0.0114707 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - SPATA13 Arg559Leu R559L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MTIF3 Gln138Arg Q138R not reviewed Insufficiently evaluated not reviewed unknown Array 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.719 - - 0 - 1 N - - STARD13 Arg262Cys R262C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.118 - - 8 Y 0 N - - AX747962 Arg82His R82H not reviewed Insufficiently evaluated not reviewed unknown Array rs61965143 5 128 0.0390625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DOCK9 Ser1382Leu S1382L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.11 - - 6 Y 0 N - - DAOA Cys82Arg C82R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPL52 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 0 - 2 N - - ADCY4 Glu453Val E453V not reviewed Insufficiently evaluated not reviewed unknown Array rs61745073 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 5 Y 0 N - - CMA1 Gly46Arg G46R not reviewed Insufficiently evaluated not reviewed unknown Array rs5246 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.928 - - 6 Y 2 N - - C14ORF101 Ser223Ile S223I not reviewed Insufficiently evaluated not reviewed unknown Array rs61732702 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYNE2 Lys1581Gln K1581Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.933 - - -2 - 2 N - - SYNE2 Val5265Ala V5265A not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.493 - - 2 - 1 N - - SPTB Ala1884Val A1884V not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM21 Asp219Del D219Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SMEK1 Gly766Ala G766A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD7 Ala822Ser A822S not reviewed Insufficiently evaluated not reviewed unknown Array rs61991737 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.24 - - -1 - 1 N - - SERPINA9 Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array rs35347445 90 10308 0.00873108 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC25A29 Glu35Lys E35K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - INF2 Ser382Gly S382G not reviewed Insufficiently evaluated not reviewed unknown Array 4 9868 0.00040535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GOLGA8E Arg160Gln R160Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 4 0.75 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - APBA2 Arg52Gln R52Q not reviewed Insufficiently evaluated not reviewed unknown Array 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - C15ORF52 Glu454Lys E454K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLA2G4D Glu469Asp E469D not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.877 - - -2 - 2 N - - CATSPER2 Arg358Gln R358Q not reviewed Insufficiently evaluated not reviewed unknown Array 63 10756 0.00585719 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - GRINL1A Ser91Trp S91W not reviewed Insufficiently evaluated not reviewed unknown Array 165 10472 0.0157563 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CORO2B Leu194Gln L194Q not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - UACA Ile1051Thr I1051T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 3 - 0 N - - THSD4 MetThr944Del MT944Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C15ORF39 Cys775Phe C775F not reviewed Insufficiently evaluated not reviewed unknown Array 54 10750 0.00502326 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAN2C1 Pro643Leu P643L not reviewed Insufficiently evaluated not reviewed unknown Array 291 10756 0.0270547 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - IL16 Ile717Val I717V not reviewed Insufficiently evaluated not reviewed unknown Array rs34460207 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WHAMM Arg549Cys R549C not reviewed Insufficiently evaluated not reviewed unknown Array 13 9692 0.00134131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADAMTSL3 Thr1418Ile T1418I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - ACAN Arg2292Cys R2292C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CHTF18 Pro266Leu P266L not reviewed Insufficiently evaluated not reviewed unknown Array 83 10026 0.00827848 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 7 Y 0 N - - LMF1 Arg350Trp R350W not reviewed Insufficiently evaluated not reviewed unknown Array 99 9736 0.0101684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TPSAB1 Phe113Ile F113I not reviewed Insufficiently evaluated not reviewed unknown Array 1 72 0.0138889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - TELO2 Val193Ala V193A not reviewed Insufficiently evaluated not reviewed unknown Array 40 10756 0.00371885 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - TRAF7 Asp72Asn D72N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.88 - - -1 - 2 N - - ABCA3 Arg1367His R1367H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.844 Y - 1 - 2 N - - PKMYT1 Arg333His R333H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 1 - 2 N - - OR2C1 Pro262Leu P262L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLX4 Arg411Gln R411Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.581 - - 0 - 1 N - - VASN Arg161Gln R161Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35713275 410 10664 0.0384471 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.862 - - 0 - 2 N - - TXNDC11 Arg153Gln R153Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.414 - - 0 - 1 N - - ERCC4 Glu875Gly E875G not reviewed Insufficiently evaluated not reviewed unknown Array rs1800124 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.669 - Y 6 Y 2 N - - NM_014711 Met408Arg M408R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 4 Y 2 N - - ACSM5 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - DNAH3 Pro1197Leu P1197L not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SH2B1 Ala663Val A663V not reviewed Insufficiently evaluated not reviewed unknown Array 27 3234 0.00834879 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 2 - 0 N - - GDPD3 Glu282Lys E282K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - CCDC135 Arg794His R794H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10730 9.3196e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - KATNB1 Arg639Cys R639C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10614 9.4215e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - KCTD19 Glu675Lys E675K not reviewed Insufficiently evaluated not reviewed unknown Array 40 10296 0.003885 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - PHLPP2 Ser919Asn S919N not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 0 - 0 N - - OSGIN1 Arg177Gly R177G not reviewed Insufficiently evaluated not reviewed unknown Array rs62640906 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - LRRC50 Pro452Thr P452T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 4 Y 0 N - - MVD Ala357Val A357V not reviewed Insufficiently evaluated not reviewed unknown Array 37 10742 0.00344442 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC061904 CysPro137SerSer CP137SS not reviewed Insufficiently evaluated not reviewed unknown Array rs7188543 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF3 Val48Ala V48A not reviewed Insufficiently evaluated not reviewed unknown Array 80 10752 0.00744048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC139719 Leu133Arg L133R not reviewed Insufficiently evaluated not reviewed unknown Array 2 30 0.0666667 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF1C Ser21Gly S21G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 2 - 0 N - - DNAH2 Arg976Cys R976C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - DNAH2 Asp4026Asn D4026N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.566 - - -1 - 1 N - - MYH4 Ser274Tyr S274Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - 5 Y 2 N - - BC050323 Met566Leu M566L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SARM1 Arg568Gln R568Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC37BP1 Leu55Ile L55I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLFN12L Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array 38 3234 0.0117502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLFN12L Ser405Pro S405P not reviewed Insufficiently evaluated not reviewed unknown Array 38 3234 0.0117502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TADA2A Asn100Ser N100S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 0 - 0 N - - DDX52 Lys365Arg K365R not reviewed Insufficiently evaluated not reviewed unknown Array rs61749870 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CDK12 Leu1471His L1471H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRB7 Val173Met V173M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KRTAP1-3 Thr16Ile T16I not reviewed Insufficiently evaluated not reviewed unknown Array 31 9994 0.00310186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP4-11 Leu161Val L161V not reviewed Insufficiently evaluated not reviewed unknown Array 102 3230 0.0315789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASB16 Glu223Gly E223G not reviewed Insufficiently evaluated not reviewed unknown Array 75 10748 0.00697804 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CA10 Arg295His R295H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - NACA2 Pro115Ser P115S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.08 - - 3 - 0 N - - LLGL2 Ala744Thr A744T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.729 - - 1 - 1 N - - UNK Asp27Gly D27G not reviewed Insufficiently evaluated not reviewed unknown Array 139 9796 0.0141895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRCD Glu178Lys E178K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC036810 Glu428Lys E428K not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL832652 Ala1298Ser A1298S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LGALS3BP Val343Met V343M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.29 - - 0 - 1 N - - ENGASE Arg659Cys R659C not reviewed Insufficiently evaluated not reviewed unknown Array 175 10556 0.0165782 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - 8 Y 0 N - - CCDC40 Glu535Lys E535K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 0 - 2 N - - CARD14 Glu422Lys E422K not reviewed Insufficiently evaluated not reviewed unknown Array rs61751629 241 10756 0.0224061 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.683 - - 0 - 1 N - - AZI1 Leu729Met L729M not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C17ORF70 Asp137Gly D137G not reviewed Insufficiently evaluated not reviewed unknown Array 119 10408 0.0114335 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEH1L Ser259Ala S259A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -1 - 0 N - - DSC3 Pro740Ser P740S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10754 0.00288265 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 3 - 2 N - - MYO5B Thr1546Met T1546M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF532 Val640Met V640M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINB3 Val134Thr V134T not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IRF4 Gly552Arg G552R not reviewed Insufficiently evaluated not reviewed unknown Array rs34502536 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC39A3 Val202Met V202M not reviewed Insufficiently evaluated not reviewed unknown Array 5 10488 0.000476735 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 0 - 1 N - - ITGB1BP3 Cys30Pro C30P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PLIN4 Tyr621Cys Y621C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10318 9.6918e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF557 Lys299Asn K299N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF358 SerAsn332TyrHis SN332YH not reviewed Insufficiently evaluated not reviewed unknown Array 1 106 0.00943396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF121 Glu372Lys E372K not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - 0 - 0 N - - SMARCA4 Ala1279Val A1279V not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - DHPS Val191Leu V191L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CC2D1A Arg869Gln R869Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9996 0.00010004 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 0 - 2 N - - MYO9B Ile1522Val I1522V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM59L Arg204Cys R204C not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - ZNF681 Phe238Leu F238L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD27 Ser354Leu S354L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 6 Y 2 N - - ZNF793 Ile133Val I133V not reviewed Insufficiently evaluated not reviewed unknown Array rs45593644 239 9494 0.0251738 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - NCCRP1 Pro119Ser P119S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.674 - - 3 - 1 N - - PLEKHG2 Pro411Arg P411R not reviewed Insufficiently evaluated not reviewed unknown Array rs34975345 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF780A Phe523Val F523V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADCK4 Leu195Val L195V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.031 - - 0 - 0 N - - PHLDB3 Ala465Val A465V not reviewed Insufficiently evaluated not reviewed unknown Array 221 10158 0.0217563 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOC1 Ile16Met I16M not reviewed Insufficiently evaluated not reviewed unknown Array rs72654453 118 10748 0.0109788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GEMIN7 Phe102Val F102V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 3 - 2 N - - EXOC3L2 Arg398Gln R398Q not reviewed Insufficiently evaluated not reviewed unknown Array 97 10532 0.00921003 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML2 Gly560Glu G560E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.625 - - 6 Y 1 N - - PRR12 Pro1499Ser P1499S not reviewed Insufficiently evaluated not reviewed unknown Array 126 7052 0.0178673 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTOV1 Glu408Gln E408Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.017 - - -2 - 0 N - - LRRC4B Arg657Gln R657Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.409 - - 0 - 1 N - - LILRA4 Arg266His R266H not reviewed Insufficiently evaluated not reviewed unknown Array 44 10752 0.00409226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTYH1 Pro440Leu P440L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRA1 GlyGlu261TrpGly GE261WG not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LILRB1 Thr283Ala T283A not reviewed Insufficiently evaluated not reviewed unknown Array rs61737891 416 10758 0.0386689 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - LILRB1 Gln401Leu Q401L not reviewed Insufficiently evaluated not reviewed unknown Array rs61739175 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZIM3 Gly313Glu G313E not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 6 Y 0 N - - ZNF304 Met7Thr M7T not reviewed Insufficiently evaluated not reviewed unknown Array rs117111481 188 10758 0.0174754 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.398 - - 2 - 1 N - - PLB1 Asn1378Del N1378Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEBPZ Ser278Arg S278R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - MAP4K3 Arg803Gly R803G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - PLEK Asn229His N229H not reviewed Insufficiently evaluated not reviewed unknown Array rs34338164 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOBKL1B Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 1 - 0 N - - MRPS5 Ser386Pro S386P not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.983 - - 3 - 2 N - - ST6GAL2 Phe30Tyr F30Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62155507 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.994 - - -4 - 2 N - - SLC5A7 Ser356Cys S356C not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 3 - 2 N - - ANAPC1 Val552Leu V552L not reviewed Insufficiently evaluated not reviewed unknown Array 2 120 0.0166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001029996 Pro527Ser P527S not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLASP1 Val270Ile V270I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9758 0.00010248 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MAP3K2 Asp2Asn D2N not reviewed Insufficiently evaluated not reviewed unknown Array 7 9370 0.000747065 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.411 - - -1 - 1 N - - MYO7B Lys1605Gln K1605Q not reviewed Insufficiently evaluated not reviewed unknown Array 166 9922 0.0167305 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - AMMECR1L Ala82Pro A82P not reviewed Insufficiently evaluated not reviewed unknown Array 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - THSD7B Ala356Asp A356D not reviewed Insufficiently evaluated not reviewed unknown Array 3 9984 0.00030048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SCN3A Val1084Ile V1084I not reviewed Insufficiently evaluated not reviewed unknown Array 59 10756 0.00548531 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - -4 - 0 N - - LRP2 Val3999Gly V3999G not reviewed Insufficiently evaluated not reviewed unknown Array 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 8 Y 2 N - - DLX2 Cys230Arg C230R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - CHN1 Pro387Leu P387L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - NM_207482 Lys1297Asn K1297N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - 1 - 0 N - - PIKFYVE Arg1386Trp R1386W not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 7 Y 2 N - - USP37 Ser249Arg S249R not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC108 Phe1473Leu F1473L not reviewed Insufficiently evaluated not reviewed unknown Array 11 10750 0.00102326 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - GLB1L Pro45Leu P45L not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 7 Y 2 N - - C2ORF57 Leu383Pro L383P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPP2 Ser38Phe S38F not reviewed Insufficiently evaluated not reviewed unknown Array rs34347825 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.753 - - 5 Y 1 N - - TMC2 Leu592Pro L592P not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 7 Y 2 N - - BC031676 Pro32Gln P32Q not reviewed Insufficiently evaluated not reviewed unknown Array rs507019 2 114 0.0175439 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NINL Arg112Gln R112Q not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.295 - - 0 - 1 N - - BPIL1 Val17Glu V17E not reviewed Insufficiently evaluated not reviewed unknown Array 44 10754 0.0040915 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 5 Y 0 N - - MYH7B Arg1317Gln R1317Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10636 0.000376081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNB1 Cys73Ser C73S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - TSHZ2 Ala595Val A595V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 2 - 0 N - - BCAS1 Thr533Met T533M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.155 - - 2 - 0 N - - ZBP1 Gly224Ser G224S not reviewed Insufficiently evaluated not reviewed unknown Array rs41304401 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.497 - - 2 - 1 N - - LAMA5 Gly3685Arg G3685R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10260 0.00633528 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 6 Y 2 N - - NM_001037335 Arg710Gln R710Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10660 0.000375234 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ABHD16B Leu10Gln L10Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2281534 3 0 3 0 0 - - - - - - - - - - - - - - - - 0.509 - - 5 Y 1 N - - JAM2 Leu10Arg L10R not reviewed Insufficiently evaluated not reviewed unknown Array 1 48 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIAM1 Val1083Met V1083M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.924 - - 0 - 2 N - - URB1 Thr600Ala T600A not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TTC3 Leu1692Phe L1692F not reviewed Insufficiently evaluated not reviewed unknown Array rs61748840 226 10724 0.0210742 2 0 3 0 0 - - - - - - - - - - - - - - - - 0.013 - - 0 - 0 N - - PLAC4 Arg44Pro R44P not reviewed Insufficiently evaluated not reviewed unknown Array rs5019195 28 10692 0.00261878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CU013362 Gly117Arg G117R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PEX26 Pro11Leu P11L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.829 Y Y 7 Y 3 N - - PI4KA Ile281Val I281V not reviewed Insufficiently evaluated not reviewed unknown Array rs61752248 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NM_001013618 Ala14Val A14V not reviewed Insufficiently evaluated not reviewed unknown Array 25 10738 0.00232818 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO18B Arg1747Cys R1747C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10448 0.00143568 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ZNRF3 Cys610Arg C610R not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GAS2L1 Gly462Ser G462S not reviewed Insufficiently evaluated not reviewed unknown Array 343 9128 0.0375767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EIF4ENIF1 Gly303Val G303V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APOL6 Thr129Met T129M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - APOBEC3F Asp149Asn D149N not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.034 - - -1 - 0 N - - LMF2 Leu301Phe L301F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OXTR Ala238Thr A238T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740241 213 10728 0.0198546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CIDEC Lys38Arg K38R not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - GRIP2 Thr540Met T540M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STT3B Ile681Val I681V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - GLB1 Leu436Phe L436F not reviewed Insufficiently evaluated not reviewed unknown Array rs34421970 97 10000 0.0097 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ARPP21 Ser479Ile S479I not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 5 Y 2 N - - SCN10A Leu879Met L879M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TTC21A Gln1104Lys Q1104K not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSRNP1 Leu478Phe L478F not reviewed Insufficiently evaluated not reviewed unknown Array 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HHATL Pro324Thr P324T not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 4 Y 2 N - - LIMD1 Ser197Phe S197F not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ALS2CL Tyr826Cys Y826C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - CELSR3 Arg895Cys R895C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CR591987 Pro119Ala P119A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NDUFAF3 Pro21Leu P21L not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 7 Y 0 N - - BSN Arg2351Gln R2351Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10696 0.000280478 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BSN Tyr3388Ser Y3388S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC146674 Gly163Arg G163R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - BC146674 Val27Ile V27I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - -4 - 0 N - - GNL3 Leu80Phe L80F not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - APPL1 Arg478His R478H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF717 Leu410Val L410V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ROBO1 Val610Ile V610I not reviewed Insufficiently evaluated not reviewed unknown Array 11 9964 0.00110397 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.221 - - -4 - 1 N - - GPR128 Asp358Asn D358N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742836 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.101 - - -1 - 0 N - - BBX Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - ZBED2 Arg4Trp R4W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.854 - - 7 Y 2 N - - SLC9A10 Met844Val M844V not reviewed Insufficiently evaluated not reviewed unknown Array rs74840030 399 10748 0.0371232 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - KIAA1407 Lys30Thr K30T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 3 - 0 N - - DTX3L Lys460Glu K460E not reviewed Insufficiently evaluated not reviewed unknown Array rs34308498 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 0 - 1 N - - BC050032 Lys30Ile K30I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAJC13 Met2225Ile M2225I not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SERPINI1 Val97Ile V97I not reviewed Insufficiently evaluated not reviewed unknown Array rs61750375 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -4 - 1 N - - KCNMB3 Asn169Lys N169K not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.088 - - 1 - 0 N - - ABCF3 Arg705His R705H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.867 - - 1 - 2 N - - EHHADH Asn629Ser N629S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FGF12 Ala117Val A117V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 2 - 2 N - - GAK Gln1078Pro Q1078P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.78 - - 4 Y 1 N - - LETM1 Asn131Lys N131K not reviewed Insufficiently evaluated not reviewed unknown Array 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.036 - - 1 - 0 N - - ADRA2C Leu393Pro L393P not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.871 - - 7 Y 2 N - - KIAA0232 Pro1138Ser P1138S not reviewed Insufficiently evaluated not reviewed unknown Array 315 9590 0.0328467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSAPL1 Gly251Val G251V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SH3TC1 Arg653Trp R653W not reviewed Insufficiently evaluated not reviewed unknown Array 49 9584 0.00511269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001040071 His97Asn H97N not reviewed Insufficiently evaluated not reviewed unknown Array rs3975564 1 6 0.166667 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BOD1L Gly1566Glu G1566E not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - TLR1 Ile57Met I57M not reviewed Insufficiently evaluated not reviewed unknown Array 40 10750 0.00372093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.923 - - -1 - 2 N - - TLR6 Thr756Met T756M not reviewed Insufficiently evaluated not reviewed unknown Array rs5743820 83 10758 0.00771519 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 0 N - - UGDH Pro475Ser P475S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - REST Pro776Ala P776A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748756 134 10758 0.0124558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC7 Thr342Ser T342S not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.651 - - -2 - 1 N - - BTC Arg3Gly R3G not reviewed Insufficiently evaluated not reviewed unknown Array 1 7982 0.000125281 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.046 - - 6 Y 0 N - - SCARB2 Asn114Lys N114K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - FRAS1 Ile3698Thr I3698T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - COPS4 Thr292Asn T292N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 1 - 0 N - - PTPN13 Arg2210Gln R2210Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61750816 230 9674 0.0237751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TACR3 Gly59Arg G59R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - 6 Y 0 N - - CCRN4L Thr134Ala T134A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SMARCA5 Pro37Ser P37S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GYPA Glu143Lys E143K not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POU4F2 GlnPro183HisHis QP183HH not reviewed Insufficiently evaluated not reviewed unknown Array 1 60 0.0166667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP10 Arg731Trp R731W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 7 Y 0 N - - DCTD Ile52Val I52V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ADAMTS16 Arg379Cys R379C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10268 9.7389e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - ANKH Arg187Gln R187Q not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.334 - Y 0 - 2 N - - DROSHA ValHis773PheTyr VH773FY not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDZD2 Thr718Asn T718N not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - CARD6 Ser857Leu S857L not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CARTPT Glu32Lys E32K not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.144 - - 0 - 0 N - - POLK Arg298His R298H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 1 - 2 N - - LYSMD3 Ile171Arg I171R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 7 Y 2 N - - ANKRD32 Arg138Gln R138Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - HSPA4 Ala159Thr A159T not reviewed Insufficiently evaluated not reviewed unknown Array rs61755724 198 10758 0.0184049 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCDHB17 Ser474Gly S474G not reviewed Insufficiently evaluated not reviewed unknown Array rs36012960 2 118 0.0169492 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCDH1 Ala712Thr A712T not reviewed Insufficiently evaluated not reviewed unknown Array rs34636888 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLU7 Ile111Val I111V not reviewed Insufficiently evaluated not reviewed unknown Array rs17856338 58 10748 0.00539635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WWC1 Asp650Val D650V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 8 Y 0 N - - ARL10 Glu191Asp E191D not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - TRIM41 Arg533His R533H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10746 0.000372231 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 1 - 2 N - - DUSP22 Val143Ile V143I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - HIST1H4K Arg79His R79H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPX5 Val67Ile V67I not reviewed Insufficiently evaluated not reviewed unknown Array rs115051243 44 10758 0.00408998 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.113 - - -4 - 0 N - - C6ORF15 Phe314Ile F314I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDSN Ser401Gly S401G not reviewed Insufficiently evaluated not reviewed unknown Array rs33941312 147 10740 0.0136871 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MICA Val199Thr V199T not reviewed Insufficiently evaluated not reviewed unknown Array rs41549718 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAG6 Met669Ile M669I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SKIV2L Trp814Cys W814C not reviewed Insufficiently evaluated not reviewed unknown Array 4 7520 0.000531914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNXB Pro2619Leu P2619L not reviewed Insufficiently evaluated not reviewed unknown Array 4 6930 0.0005772 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - DAXX Ala486Gly A486G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIFC1 Arg219Gln R219Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61736175 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 0 - 0 N - - IP6K3 His37Tyr H37Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.064 - - -1 - 0 N - - AX747659 Gly36Arg G36R not reviewed Insufficiently evaluated not reviewed unknown Array rs72853675 2 96 0.0208333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IL17F Arg131Trp R131W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - EYS Ser154Asn S154N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MTO1 Arg116Gln R116Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - FILIP1 Gln521Glu Q521E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - -2 - 1 N - - MDN1 Asp4883Gly D4883G not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.679 - - 4 Y 1 N - - MDN1 His751Tyr H751Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - EPHA7 Ser550Asn S550N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSPYL1 Gln126His Q126H not reviewed Insufficiently evaluated not reviewed unknown Array rs61746508 99 10750 0.0092093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPRC6A Ser924Leu S924L not reviewed Insufficiently evaluated not reviewed unknown Array rs41290852 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SYTL3 Ile5Met I5M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TAGAP Gly410Ala G410A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 1 - 0 N - - LPA Leu1961Pro L1961P not reviewed Insufficiently evaluated not reviewed unknown Array rs41267809 165 10522 0.0156814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - WDR27 Ala603Val A603V not reviewed Insufficiently evaluated not reviewed unknown Array rs41265375 316 10042 0.0314678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SDK1 Gln419Glu Q419E not reviewed Insufficiently evaluated not reviewed unknown Array 84 10756 0.00780959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TNRC18 Arg1810His R1810H not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 1 - 0 N - - NFE2L3 Ala149Val A149V not reviewed Insufficiently evaluated not reviewed unknown Array 9 2596 0.00346687 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.303 - - 2 - 1 N - - NM_001128060 PheAla119LeuThr FA119LT not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RALA Met19Val M19V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - 0 - 2 N - - C7ORF65 Leu134Phe L134F not reviewed Insufficiently evaluated not reviewed unknown Array 1 7820 0.000127877 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEPT14 Asp203Gly D203G not reviewed Insufficiently evaluated not reviewed unknown Array 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.668 - - 4 Y 1 N - - ZNF680 Lys292Arg K292R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - -3 - 0 N - - AUTS2 Leu375Phe L375F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 0 - 1 N - - GTF2IRD2P1 His299Tyr H299Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZP3 Pro80Thr P80T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DTX2 Asn460Asp N460D not reviewed Insufficiently evaluated not reviewed unknown Array 4 10742 0.00037237 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ERVWE1 Ser477Phe S477F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.979 - - 5 Y 2 N - - ZKSCAN1 Pro201Ala P201A not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 2 - 2 N - - PVRIG Thr87Met T87M not reviewed Insufficiently evaluated not reviewed unknown Array 57 10708 0.00532312 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - TSC22D4 Pro138Ser P138S not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - LRCH4 Val216Ile V216I not reviewed Insufficiently evaluated not reviewed unknown Array rs52833865 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ACTR3B Arg250Trp R250W not reviewed Insufficiently evaluated not reviewed unknown Array 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC022082 Ala77Gly A77G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747124 Met128Ile M128I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SOX7 Thr366Ile T366I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.284 - - 3 - 1 N - - PINX1 Asp26Asn D26N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.784 - - -1 - 1 N - - PCM1 Val987Met V987M not reviewed Insufficiently evaluated not reviewed unknown Array 19 9758 0.00194712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDCA2 Ser605Cys S605C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPHX2 Arg52Gln R52Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72475803 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.115 - - 0 - 0 N - - TEX15 Thr948Ser T948S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10754 0.000371954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PURG Ser26Gly S26G not reviewed Insufficiently evaluated not reviewed unknown Array rs11574153 76 10698 0.00710413 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - 2 - 0 N - - HGSNAT Pro413Ser P413S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10184 0.000392772 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PRKDC Pro2672Ser P2672S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ASPH Val727Ile V727I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.984 - - -4 - 2 N - - VCPIP1 Thr780Ala T780A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.16 - - 1 - 0 N - - POP1 Gly25Asp G25D not reviewed Insufficiently evaluated not reviewed unknown Array rs61743394 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - COX6C Pro3Ser P3S not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - UBR5 Ser2011Pro S2011P not reviewed Insufficiently evaluated not reviewed unknown Array rs35794419 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKHD1L1 Ile164Val I164V not reviewed Insufficiently evaluated not reviewed unknown Array rs62508075 351 9432 0.0372137 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - -4 - 1 N - - MTBP Cys93Trp C93W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - WDR67 Glu442Gly E442G not reviewed Insufficiently evaluated not reviewed unknown Array rs61752913 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - SLC45A4 Glu705Lys E705K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF696 Arg36Trp R36W not reviewed Insufficiently evaluated not reviewed unknown Array 50 9724 0.00514192 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8ORF77 Glu37Gly E37G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERMP1 Thr898Ala T898A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 1 - 1 N - - CDKN2A Ala148Thr A148T not reviewed Insufficiently evaluated not reviewed unknown Array rs3731249 224 10758 0.0208217 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - KIF24 Cys583Ser C583S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.339 - - 3 - 1 N - - TJP2 Thr62Met T62M not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.143 Y - 2 - 1 N - - IARS Val1046Ile V1046I not reviewed Insufficiently evaluated not reviewed unknown Array rs34737051 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NOL8 Gly1021Ser G1021S not reviewed Insufficiently evaluated not reviewed unknown Array rs921122 318 9706 0.0327632 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - NOL8 Lys479Asn K479N not reviewed Insufficiently evaluated not reviewed unknown Array rs61742574 315 9878 0.031889 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.629 - - 1 - 1 N - - ECM2 Met396Leu M396L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10750 0.000558139 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.97 - - -3 - 2 N - - ECM2 Arg204Gln R204Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34758505 358 10758 0.0332776 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - WNK2 Ala1570Val A1570V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCBP1 Val155Ile V155I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - -4 - 0 N - - TBC1D2 Leu499Arg L499R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10112 0.0012856 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - BAAT Asn98Lys N98K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.945 Y - 1 - 3 N - - MAPKAP1 Met193Val M193V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 0 - 2 N - - FAM129B Asp66Asn D66N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ST6GALNAC4 Thr168Met T168M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKN3 Thr508Ile T508I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 3 - 0 N - - DDX31 Arg416Gln R416Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.889 - - 0 - 2 N - - ADAMTSL2 Val672Met V672M not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.016 - Y 0 - 1 N - - SOHLH1 Ser223Cys S223C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10632 0.000940556 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - FAM166A Thr82Met T82M not reviewed Insufficiently evaluated not reviewed unknown Array 109 10758 0.010132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AF391805 Arg106Lys R106K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SHROOM2 Asp1594Tyr D1594Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.996 - - 7 Y 2 N - - REPS2 Pro248His P248H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.669 - - 5 Y 1 N - - WNK3 Ala1371Thr A1371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - APEX2 His269Tyr H269Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 8758 0.000114181 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.818 - - -1 - 1 N - - DOCK11 Ser1492Leu S1492L not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.989 - - 6 Y 2 N - - RAB33A Leu6Val L6V not reviewed Insufficiently evaluated not reviewed unknown Array rs11542874 121 8750 0.0138286 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CT45A5 Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 8718 0.00022941 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CT45A5 Leu137Val L137V not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CT45A5 Ile134Leu I134L not reviewed Insufficiently evaluated not reviewed unknown Array 1 91 0.010989 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CT45A5 Val130Leu V130L not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CT45A5 Gln129Lys Q129K not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CT45A5 Cys128Arg C128R not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.002 - - 8 Y 0 N - - CT45A5 Ile112Thr I112T not reviewed Insufficiently evaluated not reviewed unknown Array 2 8726 0.0002292 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CT45A5 Gly111Glu G111E not reviewed Insufficiently evaluated not reviewed unknown Array 1 8726 0.0001146 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CT45A5 Asn101Ser N101S not reviewed Insufficiently evaluated not reviewed unknown Array 8 8724 0.00091701 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP7D3 Met171Val M171V not reviewed Insufficiently evaluated not reviewed unknown Array 21 7733 0.00271563 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.568 - - 0 - 1 N - - SPANXN4 Glu2Lys E2K not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.194 - - 0 - 0 N - - MAGEA2 Met247Thr M247T not reviewed Insufficiently evaluated not reviewed unknown Array rs5742346 2 78 0.025641 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - H6PD Pro335Leu P335L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10752 0.00232515 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 Y Y 7 Y 4 N - - CPT2 Lys458Gln K458Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - PHTF1 Tyr19Shift Y19Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARNT Trp726Shift W726Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UBAP2L Ala492Shift A492Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AX746507 Tyr134Stop Y134X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - F13B Gly639Glu G639E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10740 0.000186219 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 6 Y 3 N - - USH2A Ile3092Arg I3092R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - USH2A Met2387Thr M2387T not reviewed Insufficiently evaluated not reviewed unknown Array 52 10754 0.00483541 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.941 Y Y 2 - 4 N - - AGT Glu296Lys E296K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.609 Y Y 0 - 3 N - - PLD5 Ile9Shift I9Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCC2 Pro1291Leu P1291L not reviewed Insufficiently evaluated not reviewed unknown Array rs17216317 129 10758 0.0119911 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.981 Y - 7 Y 3 N - - OR51S1 Leu73Stop L73X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR2AG2 Leu3Shift L3Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EXT2 His262Tyr H262Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.993 Y Y -1 - 4 N - - MYBPC3 Arg574Trp R574W not reviewed Insufficiently evaluated not reviewed unknown Array rs61897383 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SLC3A2 Ser9Shift S9Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PYGM Tyr75Phe Y75F not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.964 Y Y -4 - 4 N - - NDUFS8 Pro7Thr P7T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.679 Y - 4 Y 2 N - - USP35 Pro603Shift P603Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IGSF9B Trp173Shift W173Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001080502 Ile1381Shift I1381Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGD4 Pro571Ser P571S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - KRT2 Phe108PheGlyGlyGlySerGlyPhe F108FGGGSGF not reviewed Insufficiently evaluated not reviewed unknown Array rs2634041 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - OR6C65 Asn284Shift N284Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TMEM5 Phe385Shift F385Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLEKHG7 Trp106Stop W106X not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HSPB8 Glu167Lys E167K not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.74 Y Y 0 - 3 N - - KNTC1 Cys163Shift C163Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SACS Glu833Lys E833K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - 0.96 Y Y 0 - 4 N - - TSC22D1 Val713Shift V713Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL4A1 Met169Leu M169L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - TEP1 Ile2322Met I2322M not reviewed Insufficiently evaluated not reviewed unknown Array rs34811735 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - C14ORF73 Ala147Shift A147Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - STARD9 Ser1015Shift S1015Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTBK2 Asn416Ser N416S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9840 0.000101626 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y Y 0 - 2 N - - CYP19A1 Tyr241Asn Y241N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.966 Y - 5 Y 3 N - - FANCI Val1236Ile V1236I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SYNGR3 Gly110Shift G110Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZSCAN10 Leu268Shift L268Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH3 Glu2045Shift E2045Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PALB2 Gly998Glu G998E not reviewed Insufficiently evaluated not reviewed unknown Array rs45551636 204 10758 0.0189626 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 6 Y 4 N - - PKD1L2 Ile177Shift I177Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RHOT1 Arg691Stop R691X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LHX1 His131Shift H131Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMARCE1 Glu411Stop E411X not reviewed Insufficiently evaluated not reviewed unknown Array rs62622817 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KRT9 SerTyr599ArgAsn SY599RN not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - AOC2 Gln73Stop Q73X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ACE Pro1102Thr P1102T not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 4 Y 3 N - - MC2R Cys251Tyr C251Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - 1.0 Y - 6 Y 3 N - - ATP8B1 Glu429Ala E429A not reviewed Insufficiently evaluated not reviewed unknown Array rs34018205 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 3 - 2 N - - GRIN3B Gly466Shift G466Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs10666583 2 88 0.0227273 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARHGEF18 Lys234Shift K234Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 100 0.01 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LDLR Gly314Arg G314R not reviewed Insufficiently evaluated not reviewed unknown Array rs72658858 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.04 Y - 6 Y 1 N - - JAK3 Lys482Trp K482W not reviewed Insufficiently evaluated not reviewed unknown Array rs68135366 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - ZNF626 Lys388Stop K388X not reviewed Insufficiently evaluated not reviewed unknown Array 13 10570 0.0012299 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RPSA His36Shift H36Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs9305011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_014727 Pro404Shift P404Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBXO27 Ser189Shift S189Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CAD Ala1349Shift A1349Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC121 Arg408Shift R408Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MEMO1 Arg87Shift R87Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM82A1 Arg16Stop R16X not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYP1B1 Ala443Gly A443G not reviewed Insufficiently evaluated not reviewed unknown Array rs4986888 210 10758 0.0195204 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MOGS Thr436Pro T436P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.712 Y Y 4 Y 3 N - - SCN9A Thr370Met T370M not reviewed Insufficiently evaluated not reviewed unknown Array 9 9532 0.000944187 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.995 Y Y 2 - 4 N - - ABCB11 Ile206Val I206V not reviewed Insufficiently evaluated not reviewed unknown Array rs11568357 19 9584 0.00198247 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.004 Y Y -4 - 2 N - - TTN Arg23863His R23863H not reviewed Insufficiently evaluated not reviewed unknown Array rs56044609 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Leu4842Gln L4842Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - GLB1L Trp577Stop W577X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - RBM44 Gln851Shift Q851Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AGXT Leu6Pro L6P not reviewed Insufficiently evaluated not reviewed unknown Array 1 98 0.0102041 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 7 Y 2 N - - RTDR1 Glu304Shift E304Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TSEN2 Tyr291Cys Y291C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.2 Y Y 6 Y 3 N - - XPC Phe614Ser F614S not reviewed Insufficiently evaluated not reviewed unknown Array 43 7820 0.00549872 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - RFT1 Arg373His R373H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - GBE1 Arg316Thr R316T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.967 Y Y 3 - 4 N - - EIF2B5 Ala45Gly A45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.582 Y Y 1 - 3 N - - IDUA Ser224Pro S224P not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.954 Y Y 3 - 4 N - - DOK7 Arg432Gly R432G not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - C4ORF17 Lys119Shift K119Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SMAD1 Ile412Val I412V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.384 Y Y -4 - 3 N - - PLRG1 Met44Shift M44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KLKB1 Ser151Shift S151Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAST4 Arg1787Shift R1787Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TCOF1 Ala378Val A378V not reviewed Insufficiently evaluated not reviewed unknown Array 125 10750 0.0116279 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NMUR2 Asp246Shift D246Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GCNT2 Val159Shift V159Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKHD1 Leu1414Pro L1414P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SLC17A5 Arg494Thr R494T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y Y 3 - 4 N - - AHI1 Arg991His R991H not reviewed Insufficiently evaluated not reviewed unknown Array rs35851478 38 9496 0.00400168 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 Y Y 1 - 4 N - - UTRN Arg741Shift R741Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM126A Ile210Val I210V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.007 Y Y -4 - 2 N - - EGFR His988Pro H988P not reviewed Insufficiently evaluated not reviewed unknown Array rs17290699 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 5 Y 3 N - - ZAN Leu2199Shift L2199Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RABL5 Gln78Stop Q78X not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - WHSC1L1 Arg197Shift R197Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CPNE3 Ser260Shift S260Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_207414 Pro31Shift P31Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA2026 Gly1383Shift G1383Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AUH Pro61His P61H not reviewed Insufficiently evaluated not reviewed unknown Array 56 10288 0.00544323 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.003 Y - 5 Y 1 N - - MUSK Tyr397His Y397H not reviewed Insufficiently evaluated not reviewed unknown Array 47 9600 0.00489583 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.023 Y Y -1 - 2 N - - SETX Ile705Leu I705L not reviewed Insufficiently evaluated not reviewed unknown Array rs34781846 41 10752 0.00381324 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - COL5A1 Arg65Gln R65Q not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - AGPAT2 Ala270Val A270V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10730 0.00745573 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - EXD3 Arg853Stop R853X not reviewed Insufficiently evaluated not reviewed unknown Array 80 10108 0.00791452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DMD Val1401Met V1401M not reviewed Insufficiently evaluated not reviewed unknown Array 1 8759 0.000114168 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.843 Y Y 0 - 3 N - - DMD Thr409Ser T409S not reviewed Insufficiently evaluated not reviewed unknown Array rs34155804 117 8759 0.0133577 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.005 Y Y -2 - 2 N - - RPGR Asn1077Lys N1077K not reviewed Insufficiently evaluated not reviewed unknown Array rs62636730 174 8759 0.0198653 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - RPGR Thr533Met T533M not reviewed Insufficiently evaluated not reviewed unknown Array rs41312104 176 8759 0.0200936 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - RPGR Gln527Del Q527Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ZNF674 Arg545Shift R545Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAGE2 Arg37Shift R37Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NLGN3 Pro759Thr P759T not reviewed Insufficiently evaluated not reviewed unknown Array 1 90 0.0111111 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.996 Y Y 4 Y 4 N - - IDS Pro261Ala P261A not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y Y 2 - 2 N - - FLNA Ser2526Asn S2526N not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.438 Y Y 0 - 3 N - - ACAP3 Ala484Pro A484P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS1R3 Thr716Met T716M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 2 - 2 N - - MRPL20 His125Leu H125L not reviewed Insufficiently evaluated not reviewed unknown Array 13 10750 0.0012093 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - KIAA1751 Arg307Cys R307C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10706 0.00597796 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 8 Y 2 N - - MORN1 Tyr201Ser Y201S not reviewed Insufficiently evaluated not reviewed unknown Array 11 10746 0.00102364 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - TP73 Asp46Asn D46N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -1 - 0 N - - RNF207 Glu416Asp E416D not reviewed Insufficiently evaluated not reviewed unknown Array 19 10638 0.00178605 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ESPN Arg422Trp R422W not reviewed Insufficiently evaluated not reviewed unknown Array 28 10754 0.00260368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHG5 Gly999Arg G999R not reviewed Insufficiently evaluated not reviewed unknown Array 194 10294 0.0188459 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.013 - - 6 Y 0 N - - PLA2G2D His73Arg H73R not reviewed Insufficiently evaluated not reviewed unknown Array rs62541891 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 1 - 0 N - - DDOST Arg65Trp R65W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - E2F2 Thr202Ile T202I not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.012 - - 3 - 0 N - - MYOM3 Glu368Lys E368K not reviewed Insufficiently evaluated not reviewed unknown Array 5 9598 0.000520941 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.486 - - 0 - 1 N - - C1ORF201 Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array rs41300112 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXTL1 Ser79Arg S79R not reviewed Insufficiently evaluated not reviewed unknown Array rs34939368 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EXTL1 Arg279His R279H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - SLC30A2 Leu23Pro L23P not reviewed Insufficiently evaluated not reviewed unknown Array rs35235055 42 10756 0.0039048 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MED18 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - RAB42P Met40Leu M40L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SERINC2 Gly75Val G75V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - COL16A1 Pro1565Ser P1565S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - ZBTB8OS Leu85Phe L85F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 0 - 0 N - - CLSPN Thr79Ala T79A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GNL2 Ser670Leu S670L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.36 - - 6 Y 1 N - - NDUFS5 His98Gln H98Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - -1 - 2 N - - MACF1 Glu3291Asp E3291D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PTCH2 Pro255Ala P255A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - AKR1A1 Thr84Ile T84I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - 3 - 2 N - - TAL1 Pro5Leu P5L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 7 Y 2 N - - DIO1 Glu87Asp E87D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.075 - - -2 - 0 N - - HSPB11 Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.953 - - 1 - 2 N - - PIN1P1 Pro77Leu P77L not reviewed Insufficiently evaluated not reviewed unknown Array rs61782602 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ST6GALNAC3 Gln210Arg Q210R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 0 - 1 N - - EVI5 Thr547Ala T547A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC44A3 His434Arg H434R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747691 Gly149Trp G149W not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBM15 Ala973Val A973V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNA10 Gly433Glu G433E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 6 Y 2 N - - KCNA10 Glu83Asp E83D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LRIG2 Val598Leu V598L not reviewed Insufficiently evaluated not reviewed unknown Array rs61752502 21 10756 0.0019524 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 0 - 2 N - - SYCP1 Glu691Ala E691A not reviewed Insufficiently evaluated not reviewed unknown Array 15 10706 0.00140108 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPL9 Pro265Ser P265S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PMVK Arg119Trp R119W not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.964 - - 7 Y 2 N - - FLAD1 Arg345Cys R345C not reviewed Insufficiently evaluated not reviewed unknown Array rs61740252 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.512 - - 8 Y 1 N - - OR10T2 Asp181His D181H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 3 - 2 N - - OR10R2 Ser288Thr S288T not reviewed Insufficiently evaluated not reviewed unknown Array rs62621280 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - SPTA1 Ala357Ser A357S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9782 0.000204457 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CCDC19 Thr94Lys T94K not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - IGSF9 Phe765Tyr F765Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNJ10 Val84Met V84M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.767 - - 0 - 1 N - - ARHGAP30 Glu1023Lys E1023K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 0 - 0 N - - ARHGAP30 Asp797His D797H not reviewed Insufficiently evaluated not reviewed unknown Array rs61733353 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 3 - 0 N - - FCRLB Thr404Met T404M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 2 - 2 N - - OLFML2B Thr456Ile T456I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.442 - - 3 - 1 N - - UAP1 Lys391Gln K391Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61743675 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.472 - - -2 - 1 N - - C1ORF110 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10002 0.00129974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DUSP27 Arg399Pro R399P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 5 Y 2 N - - SELE Lys454Gln K454Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - METTL11B Val145Ala V145A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEP350 Glu2377Lys E2377K not reviewed Insufficiently evaluated not reviewed unknown Array 25 10744 0.00232688 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.135 - - 0 - 0 N - - QSOX1 Arg326Cys R326C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - SMG7 Thr699Ala T699A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - PLEKHA6 Arg1004His R1004H not reviewed Insufficiently evaluated not reviewed unknown Array rs35880002 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ELK4 Pro129Leu P129L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - TMEM206 Gln30Arg Q30R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM71A Gly406Arg G406R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.078 - - 6 Y 0 N - - KCTD3 Gly151Arg G151R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.27 - - 6 Y 1 N - - EPHX1 Ser195Pro S195P not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.401 Y - 3 - 2 N - - TMEM63A Asn190His N190H not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.838 - - 0 - 1 N - - C1ORF55 Thr314Ile T314I not reviewed Insufficiently evaluated not reviewed unknown Array rs61731742 70 9754 0.00717654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OBSCN Arg2473Gln R2473Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10530 9.4966e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 0 - 2 N - - PCNXL2 Ala66Ser A66S not reviewed Insufficiently evaluated not reviewed unknown Array 1 9562 0.00010458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARID4B Glu521Asp E521D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - OR2M5 Tyr104Cys Y104C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 6 Y 0 N - - OR2T33 Val160Ala V160A not reviewed Insufficiently evaluated not reviewed unknown Array 2 40 0.05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADARB2 Gly108Asp G108D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - DHTKD1 Val325Ile V325I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.865 - - -4 - 2 N - - PLXDC2 His508Arg H508R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - THNSL1 Ala303Ser A303S not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - APBB1IP Arg429Trp R429W not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 7 Y 2 N - - SVIL Val394Ile V394I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - KIAA1462 Gly406Arg G406R not reviewed Insufficiently evaluated not reviewed unknown Array 13 9878 0.00131605 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.983 - - 6 Y 2 N - - SLC16A9 Ile318Val I318V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - -4 - 1 N - - SLC16A9 Asp246Asn D246N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - -1 - 0 N - - ANK3 Arg852Cys R852C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM149B1 Ala167Ser A167S not reviewed Insufficiently evaluated not reviewed unknown Array rs61740304 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.098 - - -1 - 0 N - - LRIT1 Pro258Gln P258Q not reviewed Insufficiently evaluated not reviewed unknown Array rs7090059 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 4 Y 1 N - - NM_001126049 Trp149Arg W149R not reviewed Insufficiently evaluated not reviewed unknown Array 8 3234 0.00247372 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001126049 Asn131Ser N131S not reviewed Insufficiently evaluated not reviewed unknown Array 7 3234 0.0021645 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR120 Ser192Leu S192L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCE1 Val910Ile V910I not reviewed Insufficiently evaluated not reviewed unknown Array rs61751497 25 10022 0.00249451 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.033 Y - -4 - 1 N - - SFXN3 Asn135Ile N135I not reviewed Insufficiently evaluated not reviewed unknown Array rs35361377 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPRC1 Asp1513Glu D1513E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - -2 - 1 N - - PPRC1 Arg1514Ser R1514S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 3 - 2 N - - C10ORF79 Ile930Thr I930T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - INPP5F Phe1025Leu F1025L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TACC2 His311Asn H311N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - TACC2 Val1271Ile V1271I not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - -4 - 0 N - - C10ORF88 Ile276Val I276V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C10ORF137 Lys1030Thr K1030T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MMP23A Ser58Pro S58P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C10ORF90 Pro468Ser P468S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ATHL1 Pro535Leu P535L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTDSS2 Arg3Lys R3K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - -3 - 0 N - - RNH1 Ala392Thr A392T not reviewed Insufficiently evaluated not reviewed unknown Array 50 10730 0.00465983 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRRC56 Thr368Pro T368P not reviewed Insufficiently evaluated not reviewed unknown Array 46 10744 0.00428146 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.09 - - 4 Y 0 N - - PHRF1 Ser144Cys S144C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 3 - 0 N - - LRDD Ile479Val I479V not reviewed Insufficiently evaluated not reviewed unknown Array rs34545228 117 10678 0.0109571 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MUC2 Pro1905Leu P1905L not reviewed Insufficiently evaluated not reviewed unknown Array 42 10672 0.00393553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC5AC Ser3796Phe S3796F not reviewed Insufficiently evaluated not reviewed unknown Array 186 10632 0.0174944 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5AC Arg4373Gly R4373G not reviewed Insufficiently evaluated not reviewed unknown Array 26 10268 0.00253214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC5AC Ala4734Glu A4734E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CARS Phe652Tyr F652Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR52I1 Ile205Thr I205T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - MMP26 Gly172Asp G172D not reviewed Insufficiently evaluated not reviewed unknown Array rs61751340 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.95 - - 4 Y 2 N - - OR51B4 Arg169His R169H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OVCH2 Ile550Met I550M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.161 - - -1 - 0 N - - ST5 Ser673Thr S673T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.949 - - -2 - 2 N - - ZBED5 Asn495Ser N495S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.489 - - 0 - 1 N - - SAAL1 Arg176Lys R176K not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MRGPRX2 Thr4Ile T4I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.684 - - 3 - 1 N - - BC156059 Glu576Gly E576G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRRG4 Ser151Asn S151N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.941 - - 0 - 2 N - - ACCS Lys418Arg K418R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - -3 - 2 N - - PHF21A Leu136Val L136V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - AGBL2 Gly249Glu G249E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 6 Y 0 N - - OR4A47 Arg261Thr R261T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - OR4C6 Asn18Lys N18K not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.129 - - 1 - 0 N - - OR5AK2 Val214Ile V214I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - SLC43A3 Arg277Trp R277W not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR5A1 Gly142Ser G142S not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCGB2A1 Ser94Asn S94N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AHNAK Val3190Ile V3190I not reviewed Insufficiently evaluated not reviewed unknown Array rs11231129 11 10752 0.00102306 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.112 - - -4 - 0 N - - AHNAK Pro2237Thr P2237T not reviewed Insufficiently evaluated not reviewed unknown Array rs7112976 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.996 - - 4 Y 2 N - - AHNAK Met1572Val M1572V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUT1 Leu714Val L714V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUT1 Ala152Val A152V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TMEM223 Ala14Thr A14T not reviewed Insufficiently evaluated not reviewed unknown Array 15 9780 0.00153374 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - COX8A Arg17Pro R17P not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 5 Y 2 N - - SLC22A12 Glu70Lys E70K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.001 Y - 0 - 1 N - - ATG2A Pro213Leu P213L not reviewed Insufficiently evaluated not reviewed unknown Array 2 122 0.0163934 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.22 - - 7 Y 1 N - - DPP3 His36Pro H36P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 5 Y 2 N - - SPTBN2 Asn1759Ser N1759S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.536 Y - 0 - 2 N - - C11ORF80 Cys386Tyr C386Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYEOV Pro296Leu P296L not reviewed Insufficiently evaluated not reviewed unknown Array 25 10744 0.00232688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STARD10 Ser21Asn S21N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.137 - - 0 - 0 N - - ARHGEF17 Ser230Cys S230C not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.312 - - 3 - 1 N - - C2CD3 Arg1249Gln R1249Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 0 - 0 N - - XRRA1 Val356Met V356M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 0 - 1 N - - XRRA1 Leu347Phe L347F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRRA1 Val157Met V157M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.306 - - 0 - 1 N - - CAPN5 Ser229Asn S229N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 0 - 2 N - - PAK1 Lys198Thr K198T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 3 - 0 N - - CCDC67 Lys177Thr K177T not reviewed Insufficiently evaluated not reviewed unknown Array 12 9428 0.0012728 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - AMOTL1 Ala249Val A249V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10296 0.00126263 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.754 - - 2 - 1 N - - AMOTL1 Ser889Thr S889T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -2 - 0 N - - MAML2 Ala781Thr A781T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9796 0.000204164 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.387 - - 1 - 1 N - - MMP10 Glu39Asp E39D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - -2 - 0 N - - DYNC2H1 Ser1580Asn S1580N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - DDI1 Glu365Asp E365D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.228 - - -2 - 1 N - - RDX Pro472Ala P472A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - LAYN Cys251Tyr C251Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FDXACB1 Pro428Leu P428L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DLAT Glu27Lys E27K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - C11ORF71 Ser123Cys S123C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C11ORF71 Arg88Ser R88S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHLDB1 Ala1108Thr A1108T not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.02 - - 1 - 0 N - - NLRX1 Leu354Ile L354I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -2 - 2 N - - TECTA Ala445Thr A445T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.985 Y - 1 - 3 N - - OR10G4 His243Gln H243Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - -1 - 2 N - - OR10G8 Leu25Ile L25I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - -2 - 1 N - - HEPACAM Ala358Thr A358T not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.778 - - 1 - 1 N - - CDON Ile798Val I798V not reviewed Insufficiently evaluated not reviewed unknown Array 58 10758 0.00539134 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - -4 - 0 N - - ARHGAP32 Gln2057Arg Q2057R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NRIP2 Stop282Trp X282W not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NOP2 Arg697Gln R697Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61731913 139 10158 0.0136838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOP2 Trp176Cys W176C not reviewed Insufficiently evaluated not reviewed unknown Array 121 9906 0.0122148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PTPN6 Arg91His R91H not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC036226 Asn58Ser N58S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - CLEC1A Val237Leu V237L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.488 - - 0 - 1 N - - CSDA Ala219Phe A219F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAS2R43 Pro276Arg P276R not reviewed Insufficiently evaluated not reviewed unknown Array 112 9932 0.0112767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLBD1 Arg524His R524H not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLCO1A2 Val660Phe V660F not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF40 Val113Glu V113E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ADAMTS20 Lys1550Thr K1550T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PFKM Arg714His R714H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.454 Y - 1 - 2 N - - MLL2 Ile1344Thr I1344T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RACGAP1 Ser559Ala S559A not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - DIP2B Tyr383His Y383H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.309 - - -1 - 1 N - - KRT81 Val485Met V485M not reviewed Insufficiently evaluated not reviewed unknown Array 41 10516 0.00389882 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TENC1 Pro973Leu P973L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.147 - - 7 Y 0 N - - ITGB7 Glu97Val E97V not reviewed Insufficiently evaluated not reviewed unknown Array rs7972747 94 7718 0.0121793 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.381 - - 5 Y 1 N - - HOXC10 Asn67His N67H not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.205 - - 0 - 1 N - - DGKA Gln313Arg Q313R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.1 - - 0 - 0 N - - ESYT1 Arg688Gln R688Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.57 - - 0 - 1 N - - CS Leu197Phe L197F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM194A Ile144Val I144V not reviewed Insufficiently evaluated not reviewed unknown Array rs17546579 3 128 0.0234375 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRP1 Gly2962Ser G2962S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 2 - 2 N - - DDIT3 Glu146Lys E146K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - AVIL Ile659Thr I659T not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRIG3 Arg781His R781H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 1 - 0 N - - C12ORF66 Val426Leu V426L not reviewed Insufficiently evaluated not reviewed unknown Array 75 9592 0.00781901 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDM1 Val150Met V150M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 0 - 0 N - - CPM Leu354Ile L354I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.286 - - -2 - 1 N - - PTPRB Val839Met V839M not reviewed Insufficiently evaluated not reviewed unknown Array 2 9916 0.000201694 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - E2F7 Asp632Gly D632G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCYL2 Ala476Val A476V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - NT5DC3 Pro534Ser P534S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - SELPLG Pro205Ala P205A not reviewed Insufficiently evaluated not reviewed unknown Array 499 10756 0.0463927 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SELPLG Pro196Leu P196L not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NAA25 Thr836Ile T836I not reviewed Insufficiently evaluated not reviewed unknown Array rs78983078 74 10746 0.00688628 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MED13L Ser1582Thr S1582T not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TESC Asp134Glu D134E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFC5 Lys25Gln K25Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.935 - - -2 - 2 N - - SRRM4 Pro294Thr P294T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC60 Arg234Gln R234Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 0 - 2 N - - OASL Thr422Ile T422I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - P2RX7 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC62 Met361Thr M361T not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - TCTN2 Phe246Leu F246L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 0 - 2 N - - NM_001083900 Val374Met V374M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Val2519Met V2519M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001083900 Ser2973Thr S2973T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMEM132B Leu590Val L590V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10576 0.000378214 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.728 - - 0 - 1 N - - AL831921 Glu358Lys E358K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FZD10 Ile263Val I263V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - -4 - 2 N - - POLE Cys1935Tyr C1935Y not reviewed Insufficiently evaluated not reviewed unknown Array rs5744991 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 6 Y 0 N - - PARP4 Pro995Leu P995L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PARP4 Asn52Asp N52D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NUPL1 Ile364Val I364V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.806 - - -4 - 1 N - - FRY Pro1381His P1381H not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 5 Y 0 N - - KIAA0564 Thr57Ile T57I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10728 0.00111857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK057244 Leu264Phe L264F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.149 - - 0 - 0 N - - SERPINE3 Glu354Gly E354G not reviewed Insufficiently evaluated not reviewed unknown Array 114 9774 0.0116636 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.777 - - 6 Y 1 N - - DOCK9 Gln1902Pro Q1902P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYO16 Val823Ile V823I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - -4 - 0 N - - TMCO3 Asp410Glu D410E not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -2 - 0 N - - OR4K14 Pro281Leu P281L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.818 - - 7 Y 1 N - - TPPP2 Thr169Pro T169P not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 4 Y 0 N - - MYH6 Ala1931Val A1931V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 2 - 2 N - - MYH6 Met1431Ile M1431I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -1 - 2 N - - EAPP Arg229Ser R229S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.355 - - 3 - 1 N - - CLEC14A Leu480Met L480M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.076 - - -3 - 0 N - - PNN Val509Leu V509L not reviewed Insufficiently evaluated not reviewed unknown Array rs34377372 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - PRPF39 Gln43Arg Q43R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SDCCAG1 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - C14ORF183 Glu294Lys E294K not reviewed Insufficiently evaluated not reviewed unknown Array rs17122074 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF138 Ser70Leu S70L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10740 0.000186219 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - L2HGDH Arg33Ser R33S not reviewed Insufficiently evaluated not reviewed unknown Array rs35710558 96 10670 0.00899719 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.026 Y - 3 - 1 N - - MAP4K5 Thr732Ala T732A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SAMD4A Pro595Leu P595L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYNE2 Gln745Arg Q745R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - SYNE2 Lys3132Asn K3132N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYNE2 Ile3483Val I3483V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.766 - - -4 - 1 N - - PLEKHG3 Thr383Asn T383N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TDP1 Val212Ile V212I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 - Y -4 - 1 N - - CCDC88C Ala1762Thr A1762T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD7 Asn1046Ser N1046S not reviewed Insufficiently evaluated not reviewed unknown Array 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SERPINA5 Arg54Gly R54G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - C14ORF73 Arg524Cys R524C not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA0284 Arg865Gln R865Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - AHNAK2 Ala2307Pro A2307P not reviewed Insufficiently evaluated not reviewed unknown Array 3 10180 0.000294695 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - BRF1 Ala565Ser A565S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAN1 Ser277Phe S277F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 5 Y 0 N - - MTMR10 Gly722Ser G722S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RYR3 Val1415Met V1415M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - RYR3 Val2216Ile V2216I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10164 0.000295159 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.912 - - -4 - 2 N - - THBS1 Val119Met V119M not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - GPR176 Val299Ile V299I not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK291344 Pro83Ala P83A not reviewed Insufficiently evaluated not reviewed unknown Array 2 124 0.016129 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.991 - - 2 - 2 N - - RPAP1 Arg1108Gly R1108G not reviewed Insufficiently evaluated not reviewed unknown Array rs7170898 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - MAPKBP1 Val480Met V480M not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.475 - - 0 - 1 N - - SPTBN5 Gly252Arg G252R not reviewed Insufficiently evaluated not reviewed unknown Array rs61731622 19 8720 0.0021789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLA2G4D Ala750Thr A750T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 1 - 0 N - - PLA2G4F Gly727Glu G727E not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.192 - - 6 Y 0 N - - STARD9 Glu1014Asp E1014D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC30A4 Asn252Thr N252T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHC4 Asn324Ser N324S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC27A2 Arg574His R574H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 1 - 2 N - - KIAA1370 Ile542Val I542V not reviewed Insufficiently evaluated not reviewed unknown Array 10 9510 0.00105152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CGNL1 Ala454Thr A454T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CILP Pro208Ala P208A not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PARP16 Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IQCH Asp795Glu D795E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - UACA Asp1074Tyr D1074Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61729919 119 10750 0.0110698 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.76 - - 7 Y 1 N - - UACA Ile820Val I820V not reviewed Insufficiently evaluated not reviewed unknown Array 86 10756 0.00799554 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -4 - 0 N - - STRA6 Thr301Ile T301I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 3 - 2 N - - C15ORF39 Ala98Leu A98L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MAN2C1 Arg419His R419H not reviewed Insufficiently evaluated not reviewed unknown Array 41 10688 0.00383608 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.487 - - 1 - 1 N - - CSPG4 Gln795Arg Q795R not reviewed Insufficiently evaluated not reviewed unknown Array 62 10722 0.0057825 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 0 - 0 N - - MORF4L1 Leu87Phe L87F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C15ORF26 Pro284Thr P284T not reviewed Insufficiently evaluated not reviewed unknown Array rs2279997 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANPEP Gly201Val G201V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 8 Y 0 N - - ZNF710 Gly624Ser G624S not reviewed Insufficiently evaluated not reviewed unknown Array 110 10758 0.0102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ST8SIA2 Glu257Lys E257K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 0 - 0 N - - RHBDF1 Pro277Leu P277L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.481 - - 7 Y 1 N - - AXIN1 Val340Met V340M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.665 - - 0 - 1 N - - SOLH Ala92Thr A92T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - METRN Arg227Gln R227Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - GNPTG Ala160Val A160V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 2 - 1 N - - IFT140 Lys590Asn K590N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.883 - - 1 - 2 N - - CRAMP1L Pro517Thr P517T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF598 Asp556Glu D556E not reviewed Insufficiently evaluated not reviewed unknown Array rs61746014 160 9794 0.0163365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRC3 Arg601His R601H not reviewed Insufficiently evaluated not reviewed unknown Array 30 10126 0.00296267 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.873 - - 1 - 2 N - - SLX4 Pro975Leu P975L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.961 - - 7 Y 2 N - - HSP90B2P Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array rs61758086 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLIS2 Arg34His R34H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10750 9.3023e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - ZNF500 Gln184His Q184H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.929 - - -1 - 2 N - - ROGDI Ala173Thr A173T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C16ORF88 Arg422Gln R422Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBBP6 Ser1534Cys S1534C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.598 - - 3 - 1 N - - JMJD5 Val264Met V264M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRCAP Thr1767Met T1767M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ITGAX Ile79Val I79V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -4 - 0 N - - ZNF720 Asp242Gly D242G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NETO2 Ser456Thr S456T not reviewed Insufficiently evaluated not reviewed unknown Array rs2231983 239 10758 0.022216 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - -2 - 0 N - - MT1G Ala61Thr A61T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RSPRY1 His336Arg H336R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.813 - - 1 - 1 N - - POLR2C Thr15Ala T15A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.121 - - 1 - 0 N - - GPR114 Asn18Thr N18T not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 1 - 0 N - - GPR114 Arg96Gly R96G not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 6 Y 0 N - - CNGB1 Thr1043Met T1043M not reviewed Insufficiently evaluated not reviewed unknown Array 1 9834 0.000101688 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ELMO3 Ser606Ile S606I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TSNAXIP1 Glu262Lys E262K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - IL34 Pro232Leu P232L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10754 0.00111586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HYDIN Phe2567Tyr F2567Y not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HYDIN Glu1487Gly E1487G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.988 - - 6 Y 2 N - - TAT Val310Ala V310A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.002 Y - 2 - 1 N - - ZFHX3 Pro3299Ala P3299A not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CFDP1 Thr139Ser T139S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - C16ORF46 Asp293Asn D293N not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PLCG2 Ser162Thr S162T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9890 0.000101112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLCG2 Asn946Ser N946S not reviewed Insufficiently evaluated not reviewed unknown Array 11 9920 0.00110887 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.143 - - 0 - 0 N - - AK123582 Thr9Ser T9S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP10 Glu361Ala E361A not reviewed Insufficiently evaluated not reviewed unknown Array 31 9622 0.00322178 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 3 - 2 N - - FBXO31 Arg147Gln R147Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FBXO31 Gly124Arg G124R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF469 Ala331Val A331V not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.366 - - 2 - 1 N - - IL17C Ser38Leu S38L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 6 Y 2 N - - DEF8 Ser253Tyr S253Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 5 Y 0 N - - INPP5K Gly215Arg G215R not reviewed Insufficiently evaluated not reviewed unknown Array rs61733755 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RILP Ala352Thr A352T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TSR1 Arg249Trp R249W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - CAMKK1 Ala48Ser A48S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC25A11 Ser6Asn S6N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10506 0.000190367 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.579 - - 0 - 1 N - - GPR172B Ser237Pro S237P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - PITPNM3 Ile276Val I276V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.424 Y - -4 - 2 N - - FBXO39 Val260Ile V260I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KCNAB3 Val266Leu V266L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.132 - - 0 - 0 N - - PIK3R6 Ala350Ser A350S not reviewed Insufficiently evaluated not reviewed unknown Array 109 9958 0.010946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYH1 Glu1700Asp E1700D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.051 - - -2 - 0 N - - FBXW10 Arg638Gln R638Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - FAM83G Gly759Ser G759S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9902 0.000201979 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.955 - - 2 - 2 N - - FAM83G Gly486Ser G486S not reviewed Insufficiently evaluated not reviewed unknown Array 9 9994 0.00090054 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - 2 - 0 N - - LGALS9 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 2 - 0 N - - SDF2 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array rs35404078 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 1 - 0 N - - ATAD5 Glu298Lys E298K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - ATAD5 Gln1500His Q1500H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -1 - 0 N - - C17ORF42 Lys188Arg K188R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9760 0.000204918 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCL7 Thr79Lys T79K not reviewed Insufficiently evaluated not reviewed unknown Array rs41362546 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - SLFN12 Thr199Ile T199I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 3 - 2 N - - SLFN13 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.024 - - 2 - 0 N - - GAS2L2 Arg248Gln R248Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - MRM1 Leu81Val L81V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.182 - - 0 - 0 N - - STARD3 Thr287Asn T287N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.3 - - 1 - 1 N - - KRT28 Arg131His R131H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.107 - - 1 - 0 N - - KRT40 Asp364His D364H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 3 - 2 N - - KRTAP1-3 Cys34Ser C34S not reviewed Insufficiently evaluated not reviewed unknown Array rs62624960 165 9976 0.0165397 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP1-1 Cys14Phe C14F not reviewed Insufficiently evaluated not reviewed unknown Array 265 9954 0.0266225 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 4 Y 0 N - - KRT15 Ile160Val I160V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.661 - - -4 - 1 N - - LEPREL4 Pro421Leu P421L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ACLY Arg729Trp R729W not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 7 Y 2 N - - NAGLU Arg514His R514H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.013 Y - 1 - 1 N - - BC043620 Ala231Thr A231T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RUNDC1 Lys560Glu K560E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - MAP3K14 Phe257Leu F257L not reviewed Insufficiently evaluated not reviewed unknown Array 40 9822 0.00407249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARHGAP27 Thr167Met T167M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HOXB2 GlnLeu154Del QL154Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HOXB5 Gln172Pro Q172P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.973 - - 4 Y 2 N - - B4GALNT2 Arg523Trp R523W not reviewed Insufficiently evaluated not reviewed unknown Array rs61743617 120 10758 0.0111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.99 - - 7 Y 2 N - - NXPH3 Arg85His R85H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC033456 His55Leu H55L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EME1 Asn127Ser N127S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - STXBP4 Met407Val M407V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 0 - 0 N - - BZRAP1 Glu1270Gly E1270G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.302 - - 6 Y 1 N - - MARCH10 Cys662Tyr C662Y not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 6 Y 2 N - - RGS9 Ser499Del S499Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SDK2 Asp1126Asn D1126N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OTOP2 Glu433Lys E433K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.296 - - 0 - 1 N - - OTOP3 Ala282Thr A282T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASKIN2 Arg835Cys R835C not reviewed Insufficiently evaluated not reviewed unknown Array 291 10732 0.0271152 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 8 Y 2 N - - AK057217 Arg332Trp R332W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ENGASE Glu56Del E56Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CBX2 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 0 - 2 N - - RNF213 Ala546Thr A546T not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK056555 Gln95Pro Q95P not reviewed Insufficiently evaluated not reviewed unknown Array 1 104 0.00961538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AATK Ala1141Thr A1141T not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AZI1 Pro446Leu P446L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10720 0.000466417 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAHCC1 Arg1703Cys R1703C not reviewed Insufficiently evaluated not reviewed unknown Array 9 10112 0.000890031 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FASN Glu1958Lys E1958K not reviewed Insufficiently evaluated not reviewed unknown Array 45 10714 0.00420011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THOC1 Asn190Ser N190S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.384 - - 0 - 1 N - - MYOM1 Glu1624Lys E1624K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA0802 His897Gln H897Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TXNDC2 Ser218Pro S218P not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTAGE1 Ala282Asp A282D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10754 0.000557931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CPLX4 Arg107Gln R107Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - MC4R Met200Val M200V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.043 Y - 0 - 1 N - - TNFRSF11A Ser580Cys S580C not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.84 Y - 3 - 2 N - - ZCCHC2 Ile515Thr I515T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 3 - 0 N - - ZCCHC2 Pro1003Ser P1003S not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.981 - - 3 - 2 N - - HMSD Gly32Arg G32R not reviewed Insufficiently evaluated not reviewed unknown Array 7 7818 0.000895369 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 6 Y 1 N - - ZNF407 Leu2245Pro L2245P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 7 Y 1 N - - ADNP2 Val538Ala V538A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.305 - - 2 - 1 N - - C19ORF21 Arg125Cys R125C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C19ORF6 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IZUMO4 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - -4 - 0 N - - IZUMO4 Ile174Thr I174T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - DOT1L Pro1215Leu P1215L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 7 Y 2 N - - TMPRSS9 Gly559Asp G559D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - BC022568 Phe246Val F246V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MPND Pro221Leu P221L not reviewed Insufficiently evaluated not reviewed unknown Array 6 9860 0.000608519 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 7 Y 0 N - - CD209 Asn272His N272H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 0 - 0 N - - MUC16 Arg12038Leu R12038L not reviewed Insufficiently evaluated not reviewed unknown Array 50 9740 0.00513347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MUC16 Thr11888Arg T11888R not reviewed Insufficiently evaluated not reviewed unknown Array rs61746392 51 9858 0.00517346 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MUC16 Thr11180Ala T11180A not reviewed Insufficiently evaluated not reviewed unknown Array rs61746946 52 9876 0.00526529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 His9699Asn H9699N not reviewed Insufficiently evaluated not reviewed unknown Array rs7248079 59 9822 0.00600692 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Asp9344Gly D9344G not reviewed Insufficiently evaluated not reviewed unknown Array rs28442218 52 9986 0.00520729 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Thr7541Ala T7541A not reviewed Insufficiently evaluated not reviewed unknown Array 57 10072 0.00565925 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC16 Ser6896Tyr S6896Y not reviewed Insufficiently evaluated not reviewed unknown Array rs28752016 63 10462 0.00602179 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 His5417Pro H5417P not reviewed Insufficiently evaluated not reviewed unknown Array rs10416204 83 10420 0.00796545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Gln4739Pro Q4739P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MUC16 Leu3763Phe L3763F not reviewed Insufficiently evaluated not reviewed unknown Array 61 10226 0.00596519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC16 Ser2334Gly S2334G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Ala1603Thr A1603T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10068 0.000397298 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR7G3 Thr57Asn T57N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.661 - - 1 - 1 N - - ZNF559 Cys124Tyr C124Y not reviewed Insufficiently evaluated not reviewed unknown Array 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.038 - - 6 Y 0 N - - ZNF560 Val13Met V13M not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OLFM2 Ala105Val A105V not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC127752 Gly77Ser G77S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KANK2 Tyr111Cys Y111C not reviewed Insufficiently evaluated not reviewed unknown Array 22 10756 0.00204537 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 6 Y 2 N - - DOCK6 Ser1406Ala S1406A not reviewed Insufficiently evaluated not reviewed unknown Array rs34479977 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NM_018687 Arg200Gln R200Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34056604 64 10046 0.00637069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF333 Gly484Trp G484W not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.603 - - 7 Y 1 N - - OR7A17 Asp196Asn D196N not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR1I1 Arg220His R220H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.029 - - 1 - 0 N - - CYP4F12 Ser85Pro S85P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10650 0.000657276 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPAMD8 Val922Ile V922I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CPAMD8 Asp746Glu D746E not reviewed Insufficiently evaluated not reviewed unknown Array rs61746640 90 10282 0.00875316 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CPAMD8 Ala655Val A655V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GTPBP3 Arg86Cys R86C not reviewed Insufficiently evaluated not reviewed unknown Array 21 10686 0.00196519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MAST3 Ser881Thr S881T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PDE4C Ser131Leu S131L not reviewed Insufficiently evaluated not reviewed unknown Array rs10413646 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.977 - - 6 Y 2 N - - SUGP2 Trp677Arg W677R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.067 - - 7 Y 0 N - - PBX4 Arg327Gln R327Q not reviewed Insufficiently evaluated not reviewed unknown Array 19 9834 0.00193207 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - ZNF429 Lys367Arg K367R not reviewed Insufficiently evaluated not reviewed unknown Array 68 10562 0.00643817 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - POP4 Asp189Asn D189N not reviewed Insufficiently evaluated not reviewed unknown Array rs13767 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.091 - - -1 - 0 N - - ANKRD27 Ser649Phe S649F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - PEPD Thr188Met T188M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.821 - - 2 - 1 N - - FAM187B Arg162His R162H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.919 - - 1 - 2 N - - FCGBP Arg4944Gln R4944Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10744 0.00139613 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.69 - - 0 - 1 N - - ZNF780B Arg509Gly R509G not reviewed Insufficiently evaluated not reviewed unknown Array rs61730563 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIPK4 Thr304Ile T304I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.047 - - 3 - 0 N - - TMEM145 Gly262Val G262V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - 8 Y 1 N - - ZNF229 Thr211Ile T211I not reviewed Insufficiently evaluated not reviewed unknown Array rs61744740 93 9644 0.0096433 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTGIR Gly231Arg G231R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10714 0.00448012 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - 6 Y 0 N - - PRKD2 Val45Gly V45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.847 - - 8 Y 1 N - - SLC1A5 Ala383Thr A383T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - ZNF114 Ile146Val I146V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM143 Pro159Thr P159T not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 4 Y 2 N - - TULP2 Pro50Arg P50R not reviewed Insufficiently evaluated not reviewed unknown Array 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 5 Y 2 N - - PRR12 Ala998Ser A998S not reviewed Insufficiently evaluated not reviewed unknown Array 6 7964 0.00075339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KLK14 Glu189Gly E189G not reviewed Insufficiently evaluated not reviewed unknown Array 41 10120 0.00405138 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SIGLEC10 Gly302Ser G302S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.314 - - 2 - 1 N - - ZNF350 Arg90Cys R90C not reviewed Insufficiently evaluated not reviewed unknown Array rs61762980 108 10744 0.0100521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF578 Gly535Arg G535R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF83 Val265Glu V265E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF600 Gly466Arg G466R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 6 Y 2 N - - ZNF600 His28Arg H28R not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - ZNF665 Gly258Glu G258E not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NDUFA3 Ala12Gly A12G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.063 - - 1 - 0 N - - LILRA5 Ala73Thr A73T not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 1 - 0 N - - LILRB4 Asp352Asn D352N not reviewed Insufficiently evaluated not reviewed unknown Array 52 10754 0.00483541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NLRP13 Thr535Ile T535I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.104 - - 3 - 0 N - - ZIM3 Val74Leu V74L not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.352 - - 0 - 1 N - - ZNF551 Ala103Val A103V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF551 His302Arg H302R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF417 Arg400Gln R400Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.89 - - 0 - 2 N - - ZNF418 Asn440Ser N440S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.937 - - 0 - 2 N - - ZNF418 Gly173Arg G173R not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.019 - - 6 Y 0 N - - ZBTB45 Pro345Ser P345S not reviewed Insufficiently evaluated not reviewed unknown Array 67 10474 0.00639679 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.03 - - 3 - 0 N - - SNTG2 Pro159Leu P159L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 7 Y 2 N - - TAF1B Arg292His R292H not reviewed Insufficiently evaluated not reviewed unknown Array rs16867223 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - NTSR2 Lys32Asn K32N not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.985 - - 1 - 2 N - - GEN1 Arg93Trp R93W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GEN1 Ser633Ala S633A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR35 Arg721Leu R721L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 6 Y 2 N - - WDR35 Thr409Met T409M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - APOB Ala1393Val A1393V not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C2ORF70 Arg89Gln R89Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10242 0.000195274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EMILIN1 Asn238Ser N238S not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - KHK Arg214His R214H not reviewed Insufficiently evaluated not reviewed unknown Array rs61735561 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - SLC5A6 Leu573Phe L573F not reviewed Insufficiently evaluated not reviewed unknown Array rs61737373 463 10758 0.0430377 2 0 2 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - IFT172 His1636Gln H1636Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.931 - - -1 - 2 N - - FAM98A Gly284Asp G284D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM82A1 Asn233Ser N233S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10754 0.0032546 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - FAM82A1 Thr274Ile T274I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLEKHH2 Ser1385Cys S1385C not reviewed Insufficiently evaluated not reviewed unknown Array 259 10758 0.0240751 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - DYNC2LI1 Val292Met V292M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.474 - - 0 - 1 N - - SRBD1 Asn70Ser N70S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STON1-GTF2A1L Pro775Leu P775L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPTBN1 Ala2154Gly A2154G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTBN1 Thr2178Ser T2178S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -2 - 0 N - - CCDC88A Leu1398Val L1398V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 0 - 0 N - - PLEK Val17Met V17M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VAX2 Lys286Glu K286E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.007 - - 0 - 0 N - - CCDC142 Leu385Arg L385R not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 6 Y 1 N - - NM_001101386 Glu18Gln E18Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NPAS2 Gly54Ala G54A not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MFSD9 Phe218Leu F218L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.026 - - 0 - 0 N - - RANBP2 Asn1854Ser N1854S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 0 - 0 N - - ACOXL Tyr303Cys Y303C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.943 - - 6 Y 2 N - - SLC20A1 Ala10Thr A10T not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCKAP5 Ser760Thr S760T not reviewed Insufficiently evaluated not reviewed unknown Array 5 9816 0.000509372 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.197 - - -2 - 0 N - - THSD7B Glu635Lys E635K not reviewed Insufficiently evaluated not reviewed unknown Array 9 10078 0.000893034 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLA2R1 Ser57Trp S57W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.958 - - 7 Y 2 N - - SLC4A10 Gln1026Glu Q1026E not reviewed Insufficiently evaluated not reviewed unknown Array 13 9634 0.00134939 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - IFIH1 Gly494Val G494V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.952 - - 8 Y 2 N - - KCNH7 Ile917Thr I917T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP2 Glu737Lys E737K not reviewed Insufficiently evaluated not reviewed unknown Array 6 9586 0.000625912 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XIRP2 Gly3377Glu G3377E not reviewed Insufficiently evaluated not reviewed unknown Array rs16853333 169 9552 0.0176926 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP2 Val2341Ala V2341A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.256 - Y 2 - 2 N - - HOXD12 Glu273Gln E273Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RFTN2 Ser196Thr S196T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.028 - - -2 - 0 N - - ZDBF2 Thr1590Ala T1590A not reviewed Insufficiently evaluated not reviewed unknown Array 50 9514 0.00525541 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.042 - - 1 - 0 N - - RUFY4 Pro120Ser P120S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RUFY4 Tyr379Cys Y379C not reviewed Insufficiently evaluated not reviewed unknown Array 123 10046 0.0122437 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC108 Pro632Ala P632A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748323 13 10720 0.00121269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.325 - - 2 - 1 N - - CCDC108 Gln221Glu Q221E not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.048 - - -2 - 0 N - - ATG9A Pro104Ala P104A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.293 - - 2 - 1 N - - ARMC9 Gln94Arg Q94R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.79 - - 0 - 1 N - - GIGYF2 Ile58Thr I58T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.546 - - 3 - 1 N - - ANO7 Gly93Ala G93A not reviewed Insufficiently evaluated not reviewed unknown Array 1 114 0.00877193 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.012 - - 1 - 0 N - - ANGPT4 Ser324Asn S324N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - 0 - 0 N - - SDCBP2 Leu58His L58H not reviewed Insufficiently evaluated not reviewed unknown Array rs61735059 30 9674 0.0031011 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.992 - - 6 Y 2 N - - SIGLEC1 His1510Tyr H1510Y not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - ZNF133 Gly193Arg G193R not reviewed Insufficiently evaluated not reviewed unknown Array rs7272354 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF12 Gly334Ala G334A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIN2 Pro396Leu P396L not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.043 - - 7 Y 0 N - - PLK1S1 Glu310Val E310V not reviewed Insufficiently evaluated not reviewed unknown Array rs35460260 55 9624 0.00571488 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BPIL3 Arg296Cys R296C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 8 Y 0 N - - C20ORF70 Val236Ile V236I not reviewed Insufficiently evaluated not reviewed unknown Array rs1075435 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ERGIC3 Arg168His R168H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.975 - - 1 - 2 N - - TGM2 Glu549Gly E549G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.548 - - 6 Y 1 N - - KIAA1755 Pro315Ser P315S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 3 - 2 N - - FAM83D Asp238Asn D238N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GDAP1L1 Val71Met V71M not reviewed Insufficiently evaluated not reviewed unknown Array rs61737147 140 10732 0.0130451 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - RBPJL Gly484Ser G484S not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WFDC3 Pro51Leu P51L not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - PLTP Ala371Thr A371T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MMP9 Phe678Val F678V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - STAU1 Ala67Ser A67S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM65C Leu303Trp L303W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 5 Y 2 N - - C20ORF177 Lys47Gln K47Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DIDO1 Gln1539His Q1539H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10752 0.000837053 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TPTE Val547Ile V547I not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TPTE Arg426Leu R426L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LIPI Ser363Asn S363N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP24-1 Leu204Phe L204F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9614 0.000104014 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.759 - - 0 - 1 N - - KRTAP19-4 Gly45Arg G45R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRAP Leu170Met L170M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10728 0.000745712 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.033 Y - -3 - 1 N - - URB1 Ser1462Asn S1462N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GART Ala415Thr A415T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.152 - - 1 - 0 N - - SON Met1305Thr M1305T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.141 - - 2 - 0 N - - DSCAM Ala1742Val A1742V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10458 9.562e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - GAB4 Pro4Ser P4S not reviewed Insufficiently evaluated not reviewed unknown Array 25 10500 0.00238095 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 3 - 2 N - - IL17RA Arg124Cys R124C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - TSSK2 Asp308Glu D308E not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CLTCL1 Arg534Gln R534Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GNB1L Thr56Met T56M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 2 - 2 N - - HIC2 Pro192Ser P192S not reviewed Insufficiently evaluated not reviewed unknown Array 35 10530 0.00332384 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - C22ORF43 Asn10Ser N10S not reviewed Insufficiently evaluated not reviewed unknown Array rs12167828 55 9876 0.00556906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CABIN1 Arg1747Trp R1747W not reviewed Insufficiently evaluated not reviewed unknown Array 14 10746 0.00130281 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - NEFH Lys647Asn K647N not reviewed Insufficiently evaluated not reviewed unknown Array 54 10758 0.00501952 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BPIL2 Pro262Arg P262R not reviewed Insufficiently evaluated not reviewed unknown Array rs73884913 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 5 Y 2 N - - C1QTNF6 Asp67Asn D67N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDC42EP1 Val134Met V134M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.535 - - 0 - 1 N - - SH3BP1 Gly257Ser G257S not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LGALS1 Arg112His R112H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.936 - - 1 - 2 N - - SLC16A8 Ala45Thr A45T not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MKL1 Ala396Thr A396T not reviewed Insufficiently evaluated not reviewed unknown Array rs34736200 314 10742 0.0292311 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSDC2 Ser3Ala S3A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.212 - - -1 - 1 N - - SREBF2 Ala780Val A780V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2D6 Glu410Lys E410K not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF20 Val1828Met V1828M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - A4GALT Thr278Ile T278I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.016 - - 3 - 0 N - - SAMM50 Arg87Cys R87C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CELSR1 Thr2014Ile T2014I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.065 - - 3 - 0 N - - VGLL4 Met119Val M119V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10742 0.0013033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP210 Glu820Lys E820K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - FBLN2 Arg930His R930H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FGD5 Ala599Thr A599T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZFYVE20 Leu591Phe L591F not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GORASP1 Gly13Asp G13D not reviewed Insufficiently evaluated not reviewed unknown Array 30 6782 0.00442347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.685 - - 4 Y 1 N - - TTC21A Gln510Leu Q510L not reviewed Insufficiently evaluated not reviewed unknown Array 12 10044 0.00119474 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.707 - - 5 Y 1 N - - XIRP1 Arg320Gln R320Q not reviewed Insufficiently evaluated not reviewed unknown Array rs34001521 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 0 - 2 N - - CCDC13 Leu60Phe L60F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - C3ORF39 Arg357His R357H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BX648094 Lys348Glu K348E not reviewed Insufficiently evaluated not reviewed unknown Array rs17076545 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF167 Arg568Gln R568Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.888 - - 0 - 2 N - - KIF15 Val722Met V722M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - KIF15 Gln1219Arg Q1219R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.73 - - 0 - 1 N - - TGM4 Trp233Cys W233C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 7 Y 2 N - - SPINK8 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 15 9962 0.00150572 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 2 - 1 N - - BC146674 Val353Met V353M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.385 - - 0 - 1 N - - HYAL3 Ala314Thr A314T not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 1 - 0 N - - HYAL1 Ala426Gly A426G not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - RASSF1 Arg53Cys R53C not reviewed Insufficiently evaluated not reviewed unknown Array 16 9060 0.001766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK311093 Leu50Pro L50P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAD54L2 Ser561Gly S561G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RRP9 Ala30Val A30V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DNAH1 Glu2883Asp E2883D not reviewed Insufficiently evaluated not reviewed unknown Array 21 10366 0.00202585 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - STAB1 Met636Lys M636K not reviewed Insufficiently evaluated not reviewed unknown Array 1 112 0.00892857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - STAB1 Ser1434Leu S1434L not reviewed Insufficiently evaluated not reviewed unknown Array 23 10748 0.00213993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GNL3 Val495Ala V495A not reviewed Insufficiently evaluated not reviewed unknown Array 25 10756 0.00232428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF63 Thr395Ile T395I not reviewed Insufficiently evaluated not reviewed unknown Array 101 10748 0.0093971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - APPL1 Glu67Gly E67G not reviewed Insufficiently evaluated not reviewed unknown Array 27 10622 0.00254189 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.122 - - 6 Y 0 N - - ASB14 Arg258Gln R258Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRIG1 Pro907Leu P907L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 7 Y 0 N - - C3ORF64 Met3Val M3V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SHQ1 Ile169Val I169V not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.008 - - -4 - 0 N - - SHQ1 Thr80Ser T80S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - -2 - 0 N - - ROBO2 Thr754Ser T754S not reviewed Insufficiently evaluated not reviewed unknown Array 2 9762 0.000204876 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.984 Y - -2 - 3 N - - VGLL3 Val89Ile V89I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.828 - - -4 - 1 N - - EPHA6 Pro709Gln P709Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55642287 22 9732 0.00226058 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FILIP1L Arg2Cys R2C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.982 - - 8 Y 2 N - - PHLDB2 Ser46Ile S46I not reviewed Insufficiently evaluated not reviewed unknown Array rs34251436 56 10758 0.00520543 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 5 Y 1 N - - PHLDB2 Gly133Cys G133C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.243 - - 7 Y 1 N - - ABHD10 Arg5Pro R5P not reviewed Insufficiently evaluated not reviewed unknown Array rs61736214 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMPRSS7 Arg339Trp R339W not reviewed Insufficiently evaluated not reviewed unknown Array 45 9808 0.00458809 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA2018 His1589Tyr H1589Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 10058 0.0012925 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - -1 - 2 N - - PARP15 Val617Phe V617F not reviewed Insufficiently evaluated not reviewed unknown Array 68 10758 0.00632088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PARP14 Ala1513Val A1513V not reviewed Insufficiently evaluated not reviewed unknown Array rs61732767 76 9810 0.0077472 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C3ORF56 Val170Ile V170I not reviewed Insufficiently evaluated not reviewed unknown Array 86 9742 0.00882776 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MGLL Arg9Gln R9Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - KIAA1257 His356Gln H356Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.843 - - -1 - 1 N - - PIK3R4 Ala1271Ser A1271S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - STAG1 Ala704Ser A704S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PIK3CB Ala19Val A19V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 2 - 0 N - - CLSTN2 Val677Met V677M not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XRN1 Pro1662Leu P1662L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.419 - - 7 Y 1 N - - XRN1 Thr1587Ala T1587A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZIC1 Gly36Asp G36D not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SERPINI1 Met395Val M395V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 0 - 2 N - - LRRC31 Leu386Val L386V not reviewed Insufficiently evaluated not reviewed unknown Array rs35871174 23 9690 0.00237358 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.968 - - 0 - 2 N - - PCLD Arg90His R90H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 1 - 2 N - - HTR3D Cys17Arg C17R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HTR3E Trp214Arg W214R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ECE2 Thr602Ile T602I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 3 - 2 N - - ECE2 Arg703His R703H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHRD Ser137Asn S137N not reviewed Insufficiently evaluated not reviewed unknown Array 3 10118 0.000296501 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CHRD Val297Ile V297I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TMEM41A Pro235Leu P235L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 7 Y 2 N - - ADIPOQ Gly26Arg G26R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 6 Y 0 N - - ATP13A3 Ser919Ala S919A not reviewed Insufficiently evaluated not reviewed unknown Array 7 9644 0.000725839 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.491 - - -1 - 1 N - - FAM53A Arg276His R276H not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - AFAP1 Ala537Val A537V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4ORF23 Arg240Trp R240W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BOD1L Asp748Val D748V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 8 Y 2 N - - LAP3 Ser194Phe S194F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.286 - - 5 Y 1 N - - NCAPG Tyr391Cys Y391C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SEPSECS Gln150Leu Q150L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC66 Ile87Met I87M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.86 - - -1 - 2 N - - AASDH Phe429Val F429V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 3 - 0 N - - TECRL Ala281Asp A281D not reviewed Insufficiently evaluated not reviewed unknown Array 1 118 0.00847458 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.292 - - 5 Y 1 N - - UGT2B17 His450Tyr H450Y not reviewed Insufficiently evaluated not reviewed unknown Array rs72551385 2 98 0.0204082 1 0 2 0 0 - - - - - - - - - - - - - - - - 0.304 - - -1 - 1 N - - CCNG2 Leu229Val L229V not reviewed Insufficiently evaluated not reviewed unknown Array 19 10748 0.00176777 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - 0 - 0 N - - ARHGAP24 Met355Ile M355I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.052 - - -1 - 0 N - - SLC10A6 Thr168Ala T168A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.531 - - 1 - 1 N - - GPRIN3 Gly553Ala G553A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.015 - - 1 - 0 N - - ADH4 Lys132Glu K132E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C4ORF17 Thr327Ala T327A not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UGT8 Asn455Ser N455S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.057 - - 0 - 0 N - - TBC1D9 Ile774Leu I774L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10186 0.000196347 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -2 - 0 N - - TKTL2 Ala209Thr A209T not reviewed Insufficiently evaluated not reviewed unknown Array rs28742006 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 1 - 2 N - - DDX60L Arg1229Gln R1229Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61742503 8 9626 0.000831082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GALNT7 Arg128His R128H not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - WDR17 Arg295Cys R295C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - NEIL3 Thr561Ala T561A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC111 Gln11His Q11H not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - -1 - 0 N - - SNX25 Pro141Leu P141L not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAT1 Val3496Ala V3496A not reviewed Insufficiently evaluated not reviewed unknown Array rs35216841 85 9858 0.00862244 1 0 2 0 0 - - - - - - - - - - - - - - - - - Y - 2 - 2 N - - FAT1 Ile3374Val I3374V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9870 0.000202634 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 2 N - - MARCH6 Ile174Val I174V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - -4 - 0 N - - FAM105B Ala231Gly A231G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 1 - 0 N - - CDH12 Ala453Val A453V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 2 - 0 N - - LIFR Ile633Met I633M not reviewed Insufficiently evaluated not reviewed unknown Array rs2303743 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - CDC20B Arg427Cys R427C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C5ORF35 Leu144Val L144V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCNB1 Ala203Thr A203T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.974 - - 1 - 2 N - - GFM2 Ile627Thr I627T not reviewed Insufficiently evaluated not reviewed unknown Array rs34845453 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 3 - 0 N - - GCNT4 His294Asn H294N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.18 - - 0 - 0 N - - SPZ1 Ala203Thr A203T not reviewed Insufficiently evaluated not reviewed unknown Array 9 9492 0.000948166 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACOT12 Val106Met V106M not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.068 - - 0 - 0 N - - NBPF22P Arg45His R45H not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ERAP1 His68Tyr H68Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.934 - - -1 - 2 N - - CDO1 Lys112Thr K112T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - 3 - 0 N - - DMXL1 Ile1981Leu I1981L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DMXL1 Asn2463Del N2463Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF20 Leu26Gln L26Q not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC23A1 Gly137Ser G137S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 2 - 0 N - - PSD2 Pro297Ser P297S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 3 - 0 N - - WDR55 Ser14Arg S14R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - 3 - 0 N - - PCDHB2 Leu141Arg L141R not reviewed Insufficiently evaluated not reviewed unknown Array 16 10748 0.00148865 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.134 - - 6 Y 0 N - - PCDHB17 Glu526Asp E526D not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PCDHGC5 Ser61Arg S61R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.009 - - 3 - 0 N - - KIAA0141 Gly54Asp G54D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.218 - - 4 Y 1 N - - PPARGC1B Thr753Met T753M not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAT2 Ala1009Val A1009V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.157 - - 2 - 0 N - - GEMIN5 Leu1114Val L1114V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.98 - - 0 - 2 N - - HAVCR1 Met158ThrThrThrValProThrThrMetSerIleProThrThr M158TTTVPTTMSIPTT not reviewed Insufficiently evaluated not reviewed unknown Array rs6149307 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C5ORF54 Arg224Gly R224G not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIGD2A Glu10Asp E10D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.082 - - -2 - 0 N - - TSPAN17 Asp196Asn D196N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.014 - - -1 - 0 N - - MAML1 His725Arg H725R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 1 - 2 N - - TBC1D9B Glu447Leu E447L not reviewed Insufficiently evaluated not reviewed unknown Array 1 96 0.0104167 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR2V2 Val216Met V216M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - FAM136B Arg81Trp R81W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM136B Ser123Pro S123P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BMP6 Ser366Arg S366R not reviewed Insufficiently evaluated not reviewed unknown Array 4 128 0.03125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.971 - - 3 - 2 N - - SYCP2L Thr241Ala T241A not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 1 - 0 N - - NM_207582 Phe510Cys F510C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.855 - - 4 Y 2 N - - BTN3A3 His559Gln H559Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SCAND3 Ile1263Thr I1263T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.062 - - 3 - 0 N - - OR2U1P Val207Del V207Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR2H2 Arg170Trp R170W not reviewed Insufficiently evaluated not reviewed unknown Array 2 7518 0.000266028 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HLA-F Arg384His R384H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRIM31 Gln245Arg Q245R not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.84 - - 0 - 1 N - - DDR1 Ala533Ser A533S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - VARS2 Ser505Phe S505F not reviewed Insufficiently evaluated not reviewed unknown Array rs61746524 153 10758 0.014222 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.849 - - 5 Y 1 N - - PRRC2A Pro1953Ser P1953S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF27 Gly387Trp G387W not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RDBP Arg202Trp R202W not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TNXB Thr2767Ile T2767I not reviewed Insufficiently evaluated not reviewed unknown Array 1 6768 0.000147754 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - BRD2 Ala599Pro A599P not reviewed Insufficiently evaluated not reviewed unknown Array rs55952113 19 7520 0.0025266 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BRD2 Arg701His R701H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.997 - - 1 - 2 N - - RGL2 Gly197Val G197V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 8 Y 2 N - - ITPR3 Pro1151Arg P1151R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ITPR3 Val1937Ile V1937I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IP6K3 Tyr378Ser Y378S not reviewed Insufficiently evaluated not reviewed unknown Array rs34343647 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPDEF Arg192Cys R192C not reviewed Insufficiently evaluated not reviewed unknown Array rs7751270 38 10756 0.00353291 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.01 - - 8 Y 0 N - - SLC26A8 Val734Leu V734L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.993 - - 0 - 2 N - - SLC26A8 Ile126Val I126V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.004 - - -4 - 0 N - - PI16 Thr390Pro T390P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 4 Y 0 N - - C6ORF64 Arg12Gln R12Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10698 0.00168256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UBR2 Ser812Asn S812N not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RPL7L1 Thr139Ile T139I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.769 - - 3 - 1 N - - KLHDC3 Thr112Met T112M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 2 - 2 N - - PTK7 Pro60Ala P60A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - ZNF318 Lys1741Arg K1741R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLC25A27 Ser120Asn S120N not reviewed Insufficiently evaluated not reviewed unknown Array 20 9610 0.00208117 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - CENPQ Asn111Ser N111S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.978 - - 0 - 2 N - - C6ORF142 Pro490Leu P490L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FILIP1 Thr803Ala T803A not reviewed Insufficiently evaluated not reviewed unknown Array 1 122 0.00819672 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 1 - 2 N - - MYO6 Asn418Ser N418S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MYO6 Ile810Thr I810T not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - HTR1B Ile225Thr I225T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.738 - - 3 - 1 N - - MDN1 Pro4330Ser P4330S not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF203 Ser218Asn S218N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A16 Arg239Gln R239Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 0 - 2 N - - AKAP7 Ser169Leu S169L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCLAF1 Gly446Asp G446D not reviewed Insufficiently evaluated not reviewed unknown Array 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.991 - - 4 Y 2 N - - IL22RA2 Pro181Gln P181Q not reviewed Insufficiently evaluated not reviewed unknown Array 71 10750 0.00660465 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - HIVEP2 His1112Pro H1112P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10444 0.000191497 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.93 - - 5 Y 2 N - - C6ORF103 Ser315Ala S315A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF103 Gln1588Glu Q1588E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RAET1L Met157Val M157V not reviewed Insufficiently evaluated not reviewed unknown Array rs61748301 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.669 - - 0 - 1 N - - CNKSR3 Asp14Glu D14E not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - SYTL3 Pro474Leu P474L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGF2R Ala874Thr A874T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.239 - - 1 - 1 N - - GPR146 Thr224Pro T224P not reviewed Insufficiently evaluated not reviewed unknown Array 1 94 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.023 - - 4 Y 0 N - - MAD1L1 Cys633Phe C633F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 4 Y 2 N - - C7ORF27 Pro753Leu P753L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SDK1 Asn271Lys N271K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 1 - 2 N - - SDK1 Ala541Val A541V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.006 - - 2 - 0 N - - TNRC18 Glu1404Asp E1404D not reviewed Insufficiently evaluated not reviewed unknown Array 19 10260 0.00185185 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.92 - - -2 - 2 N - - SCIN Phe81Val F81V not reviewed Insufficiently evaluated not reviewed unknown Array 2 126 0.015873 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.989 - - 3 - 2 N - - RAPGEF5 Pro313His P313H not reviewed Insufficiently evaluated not reviewed unknown Array rs28716840 295 9540 0.0309224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC126 Tyr106Cys Y106C not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - 6 Y 2 N - - SNX10 Thr196Lys T196K not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHN2 Pro46Leu P46L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - 7 Y 0 N - - DPY19L2P1 Phe205Ile F205I not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMIZ2 Asn50His N50H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.995 - - 0 - 2 N - - MYO1G Glu703Gly E703G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - HUS1 Thr196Ser T196S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10750 0.00130233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.025 - - -2 - 0 N - - NSUN5 Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 0 - 0 N - - GNAT3 Val174Ile V174I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.06 - - -4 - 0 N - - SEMA3C Asn746Asp N746D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.986 - - -1 - 2 N - - PCLO Ser2267Phe S2267F not reviewed Insufficiently evaluated not reviewed unknown Array 73 9692 0.00753199 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEMA3A Gln641His Q641H not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.021 - - -1 - 0 N - - ZNF804B Asp622Glu D622E not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AKAP9 Arg1614Gln R1614Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2230768 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKAP9 Arg3310Gln R3310Q not reviewed Insufficiently evaluated not reviewed unknown Array 76 10758 0.00706451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM200A Thr8Ala T8A not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.049 - - 1 - 0 N - - ZNF655 His387Arg H387R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2AE1 Arg172Trp R172W not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.987 - - 7 Y 2 N - - AZGP1 Arg27Cys R27C not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.827 - - 8 Y 1 N - - C7ORF47 Ala192Ser A192S not reviewed Insufficiently evaluated not reviewed unknown Array 1 124 0.00806452 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FBXO24 Asp74Asn D74N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.235 - - -1 - 1 N - - EPHB4 Gln869Arg Q869R not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.564 - - 0 - 1 N - - MUC12 Val480Met V480M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Val2797Gly V2797G not reviewed Insufficiently evaluated not reviewed unknown Array 1 78 0.0128205 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC17 Pro2801Arg P2801R not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC17 Thr2802Ile T2802I not reviewed Insufficiently evaluated not reviewed unknown Array 1 116 0.00862069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TRIM56 Pro480Ser P480S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.526 - - 3 - 1 N - - EMID2 Glu168Lys E168K not reviewed Insufficiently evaluated not reviewed unknown Array 11 10248 0.00107338 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC17 Arg184Gln R184Q not reviewed Insufficiently evaluated not reviewed unknown Array 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 0 - 2 N - - ARMC10 Asn94His N94H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.942 - - 0 - 2 N - - C7ORF53 Ser128Phe S128F not reviewed Insufficiently evaluated not reviewed unknown Array rs34665489 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC13A1 Ala415Val A415V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - CPA5 Arg129Cys R129C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10754 9.2988e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.972 - - 8 Y 2 N - - MKLN1 Ala9Val A9V not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC13A4 Ala45Ser A45S not reviewed Insufficiently evaluated not reviewed unknown Array 1 120 0.00833333 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC13A4 Thr44Ala T44A not reviewed Insufficiently evaluated not reviewed unknown Array 1 110 0.00909091 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CREB3L2 Pro70Leu P70L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBN2 Arg109His R109H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIPK2 Pro616Thr P616T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DENND2A Ser675Asn S675N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF862 Ile491Met I491M not reviewed Insufficiently evaluated not reviewed unknown Array 14 9808 0.00142741 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.032 - - -1 - 0 N - - GALNTL5 Gly206Ala G206A not reviewed Insufficiently evaluated not reviewed unknown Array rs61729482 177 10758 0.0164529 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - MLL3 Pro2616Ser P2616S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 3 - 0 N - - SOX7 Thr363Met T363M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 2 - 0 N - - BLK Arg115Gln R115Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 0 - 0 N - - PSD3 Thr534Met T534M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10192 9.8116e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.077 - - 2 - 0 N - - CSGALNACT1 His232Gln H232Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12155539 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EPB49 Ala101Val A101V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HR Arg139Gln R139Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.999 - - 0 - 2 N - - TNFRSF10B Leu413Phe L413F not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.552 - - 0 - 1 N - - WRN Asp380Gly D380G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - HTRA4 Val197Leu V197L not reviewed Insufficiently evaluated not reviewed unknown Array 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.073 - - 0 - 0 N - - CHRNB3 Ile10Val I10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SNAI2 Ser160Gly S160G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - 2 - 0 N - - LYN Pro44Thr P44T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 4 Y 0 N - - DNAJC5B Ile79Met I79M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.452 - - -1 - 1 N - - C8ORF44 Ser106Pro S106P not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PREX2 Arg1230Gln R1230Q not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LACTB2 Tyr99Cys Y99C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HAS2 Asn535Ser N535S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.001 - - 0 - 0 N - - WDR67 Gln63Glu Q63E not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.045 - - -2 - 0 N - - WDYHV1 Ala52Gly A52G not reviewed Insufficiently evaluated not reviewed unknown Array rs34533564 29 10756 0.00269617 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.636 - - 1 - 1 N - - ZNF572 Ser163Pro S163P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LY6D Leu96Pro L96P not reviewed Insufficiently evaluated not reviewed unknown Array 43 10754 0.00399851 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.945 - - 7 Y 2 N - - PLEC Arg3878Gln R3878Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9776 0.000102291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PARP10 Glu565Lys E565K not reviewed Insufficiently evaluated not reviewed unknown Array 44 10758 0.00408998 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.956 - - 0 - 2 N - - TONSL Ala934Ser A934S not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TONSL Arg223His R223H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 1 - 2 N - - COMMD5 Phe54Leu F54L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C8ORF77 Lys89Glu K89E not reviewed Insufficiently evaluated not reviewed unknown Array 2 128 0.015625 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DMRT2 Arg382Pro R382P not reviewed Insufficiently evaluated not reviewed unknown Array rs72703237 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC24A2 Ile654Phe I654F not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1797 Ser1178Gly S1178G not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 2 - 0 N - - PTPLAD2 Lys231Del K231Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 126 0.00793651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAF1L Ile1805Val I1805V not reviewed Insufficiently evaluated not reviewed unknown Array rs16918393 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TLN1 Asp1993Asn D1993N not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.429 - - -1 - 1 N - - CCDC29 Gln44Glu Q44E not reviewed Insufficiently evaluated not reviewed unknown Array rs2982997 2 14 0.142857 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PTAR1 Gln152Arg Q152R not reviewed Insufficiently evaluated not reviewed unknown Array 159 9810 0.016208 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.47 - - 0 - 1 N - - C9ORF103 Ile13Asn I13N not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC28A3 Leu667Val L667V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.005 - - 0 - 0 N - - C9ORF79 Pro1186Gln P1186Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61744962 48 10736 0.00447094 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR612236 Ile145Thr I145T not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL15A1 Ile1312Leu I1312L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.002 - - -2 - 0 N - - INVS Arg396Gln R396Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.998 Y - 0 - 3 N - - OR13C4 Arg90Del R90Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR13C3 Ala290Val A290V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR13C3 Leu60Pro L60P not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.085 - - 7 Y 0 N - - ACTL7B Asp122Asn D122N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.734 - - -1 - 1 N - - PALM2-AKAP2 Gln369His Q369H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SVEP1 Met3069Val M3069V not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SVEP1 Met2167Ile M2167I not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.462 - - -1 - 1 N - - ZFP37 Met508Arg M508R not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF618 Arg28His R28H not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.33 - - 1 - 1 N - - AKNA Gly1275Asp G1275D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.932 - - 4 Y 2 N - - CDK5RAP2 Glu1023Asp E1023D not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - PSMD5 Ile67Met I67M not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.905 - - -1 - 2 N - - TTLL11 Pro30Leu P30L not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.894 - - 7 Y 2 N - - OR1J4 Arg50Gln R50Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.61 - - 0 - 1 N - - OR1N2 Tyr137Cys Y137C not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.999 - - 6 Y 2 N - - OR1L8 Ser233Tyr S233Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.508 - - 5 Y 1 N - - OR1L4 Arg160His R160H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.789 - - 1 - 1 N - - PRRC2B Glu1154Lys E1154K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UCK1 Leu156Val L156V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.011 - - 0 - 0 N - - DDX31 Glu33Lys E33K not reviewed Insufficiently evaluated not reviewed unknown Array 139 10578 0.0131405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CEL Pro729Thr P729T not reviewed Insufficiently evaluated not reviewed unknown Array 54 9264 0.00582901 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SURF2 Ala209Pro A209P not reviewed Insufficiently evaluated not reviewed unknown Array 1 128 0.0078125 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.041 - - 2 - 0 N - - FCN2 Asp4Glu D4E not reviewed Insufficiently evaluated not reviewed unknown Array rs72551122 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.033 - - -2 - 0 N - - FCN2 Thr161Met T161M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.681 - - 2 - 1 N - - NOTCH1 Arg2327Gln R2327Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10110 0.000494559 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - IL3RA Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array rs6647004 37 10750 0.00344186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL3RA Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array 18 10750 0.00167442 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.346 - - 1 - 1 N - - AKAP17A Asp506Asn D506N not reviewed Insufficiently evaluated not reviewed unknown Array 9 10736 0.000838301 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.095 - - -1 - 0 N - - AKAP17A Cys522Arg C522R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10748 0.000930405 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.998 - - 8 Y 2 N - - ZBED1 Ala651Thr A651T not reviewed Insufficiently evaluated not reviewed unknown Array 1 91 0.010989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD99 Arg170Gln R170Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10750 0.000930232 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.64 - - 0 - 1 N - - SHROOM2 Leu265Phe L265F not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.445 - - 0 - 1 N - - BEND2 Leu775Pro L775P not reviewed Insufficiently evaluated not reviewed unknown Array 1 82 0.0121951 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.569 - - 7 Y 1 N - - MAGEB6 Ser93Arg S93R not reviewed Insufficiently evaluated not reviewed unknown Array 193 8759 0.0220345 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.307 - - 3 - 1 N - - MAGEB3 Ser106Pro S106P not reviewed Insufficiently evaluated not reviewed unknown Array 14 8759 0.00159836 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.003 - - 3 - 0 N - - FAM47B Leu153Pro L153P not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.976 - - 7 Y 2 N - - KDM6A Val759Ala V759A not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF157 Thr500Ala T500A not reviewed Insufficiently evaluated not reviewed unknown Array rs61736398 162 8761 0.018491 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.14 - - 1 - 0 N - - CCDC120 Ala545Thr A545T not reviewed Insufficiently evaluated not reviewed unknown Array 6 8454 0.000709723 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.514 - - 1 - 1 N - - CXORF67 Arg180Gln R180Q not reviewed Insufficiently evaluated not reviewed unknown Array 109 8749 0.0124586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGED1 Ala103Gly A103G not reviewed Insufficiently evaluated not reviewed unknown Array 1 91 0.010989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WNK3 Ala827Thr A827T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRO His246Arg H246R not reviewed Insufficiently evaluated not reviewed unknown Array 17 8425 0.0020178 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM123B Arg584His R584H not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - 0.54 - - 1 - 1 N - - TBX22 Ala390Thr A390T not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - PCDH11X Val471Ile V471I not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TCEAL3 Gln69Del Q69Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 86 0.0232558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NKAP Ser186Cys S186C not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPANXN4 Lys29Del K29Del not reviewed Insufficiently evaluated not reviewed unknown Array 2 92 0.0217391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GPR50 Asp582Gly D582G not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CNGA2 Ile577Ser I577S not reviewed Insufficiently evaluated not reviewed unknown Array 3 8761 0.000342426 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.891 - - 5 Y 2 N - - PLXNB3 Arg1831Cys R1831C not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - 1.0 - - 8 Y 2 N - - HCFC1 ValThr1662Del VT1662Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 92 0.0108696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HCFC1 Val1387Met V1387M not reviewed Insufficiently evaluated not reviewed unknown Array 6 8531 0.000703317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IL9R Asp233Asn D233N not reviewed Insufficiently evaluated not reviewed unknown Array 8 10750 0.000744186 1 0 1 0 0 - - - - - - - - - - - - - - - - 0.741 - - -1 - 1 N - - CFTR Arg668Cys R668C benign Insufficiently evaluated benign unknown Array rs1800100 60 10758 0.00557724 1 0 1 1 1 - - 1 Y - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SYNE1 Glu6786Shift E6786Shift pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 1 0 1 1 1 3 Y - - 0 Y 0 Y 3 Y 1 Y Y - - - - Y Y 4 Y 4 N 1 0 This may be rare and may cause cerebellar ataxia in a recessive manner. This is a disruptive variant, but most of reported causal variants have been upstream of this position -- the few reports of causal downstream variants lack statistical significance. This protein is very large, it's possible that truncating variants this far along in the product do not have as severe an effect. C11ORF40 Cys200Shift C200Shift not reviewed Insufficiently evaluated not reviewed unknown Array 4 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MS4A14 Ile56Shift I56Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3217518 11 0 11 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR11G2 Gly230Shift G230Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs55781225 6 0 9 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKAP9 Lys1335LysGln K1335KQ not reviewed Insufficiently evaluated not reviewed unknown Array rs10644111 8 0 8 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ABHD16B Arg362Gln R362Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSNK2A1 Thr360Ile T360I not reviewed Insufficiently evaluated not reviewed unknown Array rs7945066 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDRT1 Ala713Val A713V not reviewed Insufficiently evaluated not reviewed unknown Array rs151442 423 9894 0.0427532 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_002826 Pro179Leu P179L not reviewed Insufficiently evaluated not reviewed unknown Array rs4522649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC010225 Pro76Ser P76S not reviewed Insufficiently evaluated not reviewed unknown Array rs4364558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO5B Leu1055LeuLeu L1055LL not reviewed Insufficiently evaluated not reviewed unknown Array rs3841750 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PMPCA Ser386SerGlyGlyArgGlyTrpArg S386SGGRGWR not reviewed Insufficiently evaluated not reviewed unknown Array rs71384081 2 0 2 0 0 - - - - - - - - - - - - - - - - - Y Y 4 Y 3 N - - NM_004719 Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array rs118114840 222 10758 0.0206358 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSPG4 Arg1208His R1208H not reviewed Insufficiently evaluated not reviewed unknown Array rs8030131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BAG6 Asn4Asp N4D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PRRC2B Val261Ile V261I not reviewed Insufficiently evaluated not reviewed unknown Array rs72772613 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MRPL30 Val19Met V19M not reviewed Insufficiently evaluated not reviewed unknown Array rs10865030 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CLCNKB Trp38Arg W38R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - UBXN10 Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZMYND12 Ile357Shift I357Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC30 Asn6Shift N6Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GBP3 Asn572Shift N572Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Gly1783Glu G1783E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ATP8B2 Lys549Shift K549Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RHBG Pro424Shift P424Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11303415 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs71583914 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - PLA2G4A Asn740Shift N740Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EDARADD Ser103Phe S103F not reviewed Insufficiently evaluated not reviewed unknown Array rs114632254 216 10758 0.0200781 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - CCDC7 Leu77Shift L77Shift not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCF Gln211His Q211H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - SPRYD5 Ile129Shift I129Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C11ORF83 Asp46Shift D46Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VPS11 Leu73Shift L73Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5795166 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs77085300 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - SCNN1A Pro37Leu P37L not reviewed Insufficiently evaluated not reviewed unknown Array rs61758858 6 3234 0.00185529 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - KIF5A Pro986Leu P986L not reviewed Insufficiently evaluated not reviewed unknown Array rs113247976 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs80290845 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - PIWIL1 Gly80Shift G80Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NUPL1 Thr234Shift T234Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNRG Tyr101Shift Y101Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEK3 Gln293Shift Q293Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3837575 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_028064 Gly139Shift G139Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TEP1 Arg1622Gln R1622Q not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC7A7 Gly101Ala G101A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - SYNE2 Pro4733Thr P4733T not reviewed Insufficiently evaluated not reviewed unknown Array rs75568433 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs3841304 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - IREB2 Lys233Shift K233Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - POLG Glu1143Gly E1143G not reviewed Insufficiently evaluated not reviewed unknown Array rs2307441 299 10758 0.0277933 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - NR_027242 Asn339Shift N339Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs213659 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_027242 Gln97Shift Q97Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs113450650 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CORO1A Gly16Shift G16Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CES1 Asn132Shift N132Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CR600589 Ser477Shift S477Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - JPH3 Ser209Thr S209T not reviewed Insufficiently evaluated not reviewed unknown Array 27 10756 0.00251023 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ZNF469 Arg2582Shift R2582Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ASPA Ile170Thr I170T not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TMEM95 Ala103Shift A103Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADORA2B Met219Shift M219Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEBOX Trp10Shift W10Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11396339 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT14 Arg56Cys R56C not reviewed Insufficiently evaluated not reviewed unknown Array rs117484558 54 10654 0.00506852 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114107890 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - COG1 Arg571Gln R571Q not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs113293165 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - TRIP10 Glu399Shift E399Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PNPLA6 Pro447Leu P447L not reviewed Insufficiently evaluated not reviewed unknown Array 50 10726 0.00466157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_014727 Leu1882Shift L1882Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SHANK1 Gly1896Shift G1896Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VSIG10L Gln860Shift Q860Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11410501 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF480 Cys3Shift C3Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3217319 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF880 Asn106Shift N106Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34470614 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF761 Leu47Shift L47Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs59092521 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NM_001145710 Gln302Shift Q302Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs113322110 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTOF Gly741Val G741V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NR_027251 His75Shift H75Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67278917 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HTRA2 Glu165Shift E165Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ZAP70 Ile342Thr I342T not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg30395His R30395H not reviewed Insufficiently evaluated not reviewed unknown Array rs4894028 249 10432 0.0238689 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Val28135Met V28135M not reviewed Insufficiently evaluated not reviewed unknown Array rs747122 977 9628 0.101475 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 2 N - - TTN Ile26820Thr I26820T not reviewed Insufficiently evaluated not reviewed unknown Array rs9808377 3167 9966 0.31778 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Glu26518Lys E26518K not reviewed Insufficiently evaluated not reviewed unknown Array 2 9696 0.00020627 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ile25199Val I25199V not reviewed Insufficiently evaluated not reviewed unknown Array rs3829746 3116 9752 0.319524 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Ile23649Thr I23649T not reviewed Insufficiently evaluated not reviewed unknown Array rs12463674 2147 9574 0.224253 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - TTN Arg21422His R21422H not reviewed Insufficiently evaluated not reviewed unknown Array rs10164753 477 10014 0.0476333 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TTN Ala19840Pro A19840P not reviewed Insufficiently evaluated not reviewed unknown Array rs4145333 9771 9810 0.996024 3 0 6 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - TTN Val19783Ile V19783I not reviewed Insufficiently evaluated not reviewed unknown Array rs2303838 2123 9538 0.222583 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 2 N - - TTN Thr18827Ile T18827I not reviewed Insufficiently evaluated not reviewed unknown Array rs2042996 3130 10040 0.311753 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 2 N - - ALS2 Pro372Arg P372R not reviewed Insufficiently evaluated not reviewed unknown Array 14 9584 0.00146077 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs78110303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - MYT1 Glu273Shift E273Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRTAP19-3 Gly54Shift G54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRTAP10-10 Glu28Shift E28Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs114653592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL6A2 Ala68Val A68V not reviewed Insufficiently evaluated not reviewed unknown Array rs6652 1758 10746 0.163596 2 0 3 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - NR_027052 Thr53Shift T53Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66918515 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF167 Asn494Shift N494Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs36046723 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TGM4 Asn110Shift N110Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_015394 Thr113Shift T113Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs66542766 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPHP3 Arg397Cys R397C not reviewed Insufficiently evaluated not reviewed unknown Array 36 10756 0.00334697 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - CPN2 Gln509Trp Q509W not reviewed Insufficiently evaluated not reviewed unknown Array rs4974538 3 0 3 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - WFS1 Cys360Tyr C360Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - WDR1 Val591Shift V591Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM105A Cys295Shift C295Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_027706 Gly126Shift G126Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67039828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NSD1 Gly982Arg G982R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - GMCL1L Asp483Shift D483Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NUP153 Asp975Shift D975Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HIST1H4B Lys9Shift K9Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112378789 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114678087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs111726850 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114875033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112085447 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112586361 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115637879 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs77471114 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs78559715 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112620348 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs113347294 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116733014 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116131149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114942539 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115929053 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115765488 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115233703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116552815 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115766652 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112754876 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115316013 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114734715 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs111335537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112257368 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115399359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs79709508 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116392568 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs78586586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs113179758 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112985979 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112211074 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116483887 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115961006 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112279533 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115891997 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115736223 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114424451 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs113996279 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs74751110 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs76104830 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs77583018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs111421016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs77650631 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs113737491 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116735870 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs111436182 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115961701 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - COL11A2 Gly461Asp G461D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115463113 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - CAPN11 Ile145Shift I145Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs57288791 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKHD1 Gly2285Glu G2285E benign Low clinical importance, Uncertain benign unknown Array 24 10756 0.00223131 1 0 1 1 1 ! Y - - 4 Y - - - - - - Y - - - - Y Y 6 Y Polycystic Kidney Disease, Autosomal Recessive 0 150 1 199 0.000 3 N 0 0 Tentatively classified as benign. Computationally predicted to be disruptive, but this has been seen twice in various unaffected controls and has not among published patients with autosomal recessive polycystic kidney disease, significantly contradicting a severe pathogenic effect. KIAA1009 Glu38Shift E38Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - WISP3 Pro44Leu P44L not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - WISP3 Pro49Thr P49T not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - NM_001161833 Ala174Shift A174Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs5884599 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SRRM3 Arg579Shift R579Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs75544239 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLNC Arg1241Cys R1241C not reviewed Insufficiently evaluated not reviewed unknown Array 73 10598 0.00688809 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PRSS1 Ala148Leu A148L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - DLGAP2 Pro205Shift P205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MBOAT4 Leu402Shift L402Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs7844812 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CNGB3 Leu150Shift L150Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - VPS13A Glu198Val E198V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - HEMGN Thr108Shift T108Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_027444 Trp159Shift W159Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67041327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC112980 Lys147Shift K147Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs35084954 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLA Arg252Thr R252T not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - LAMP2 Ile252Ser I252S not reviewed Insufficiently evaluated not reviewed unknown Array 17 8761 0.00194042 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - GPC3 Val429Met V429M not reviewed Insufficiently evaluated not reviewed unknown Array rs41312608 25 8761 0.00285355 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTLL10 Arg186Cys R186C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_027361 Tyr3Cys Y3C not reviewed Insufficiently evaluated not reviewed unknown Array rs6659787 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MORN1 Pro222Gln P222Q not reviewed Insufficiently evaluated not reviewed unknown Array rs116550976 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_024371 Gly27Cys G27C not reviewed Insufficiently evaluated not reviewed unknown Array rs2297829 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRDM16 Leu551Pro L551P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC037321 Gly94Arg G94R not reviewed Insufficiently evaluated not reviewed unknown Array rs4654460 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NPHP4 Glu618Lys E618K not reviewed Insufficiently evaluated not reviewed unknown Array rs571655 102 10018 0.0101817 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TNFRSF9 Ala56Thr A56T not reviewed Insufficiently evaluated not reviewed unknown Array rs9657963 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001136561 Asp255Cys D255C not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NM_001136561 Pro253Leu P253L not reviewed Insufficiently evaluated not reviewed unknown Array rs111369527 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001136561 Ala248Val A248V not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001136561 Glu245Asp E245D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001136561 Glu212Gly E212G not reviewed Insufficiently evaluated not reviewed unknown Array rs76478569 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001136561 GlnSer208HisCys QS208HC not reviewed Insufficiently evaluated not reviewed unknown Array rs79256404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001136561 Asn151Asp N151D not reviewed Insufficiently evaluated not reviewed unknown Array rs28564063 263 3234 0.0813234 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001136561 His145Arg H145R not reviewed Insufficiently evaluated not reviewed unknown Array rs28713604 2386 3234 0.737786 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001136561 Leu26Pro L26P not reviewed Insufficiently evaluated not reviewed unknown Array 63 3232 0.0194926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDPN Arg16Trp R16W not reviewed Insufficiently evaluated not reviewed unknown Array rs113350533 40 10750 0.00372093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UBR4 Met844Val M844V not reviewed Insufficiently evaluated not reviewed unknown Array rs35444108 61 10758 0.0056702 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR7L Ala254Thr A254T not reviewed Insufficiently evaluated not reviewed unknown Array rs2235795 6301 10758 0.585704 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AKR7L Phe235Leu F235L not reviewed Insufficiently evaluated not reviewed unknown Array rs75616155 1691 10758 0.157185 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HP1BP3 Ala470Thr A470T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EIF4G3 Ala296Val A296V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - E2F2 Gly205Arg G205R not reviewed Insufficiently evaluated not reviewed unknown Array rs2229297 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RHD Val127Ala V127A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEPN1 Asn467Lys N467K not reviewed Insufficiently evaluated not reviewed unknown Array rs2294228 6612 10516 0.628756 3 0 5 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - UBXN11 Ser494Cys S494C not reviewed Insufficiently evaluated not reviewed unknown Array rs1134583 297 9326 0.0318464 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AIM1L Lys39Asn K39N not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WASF2 Pro247Leu P247L not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DCDC2B Gln271Stop Q271X not reviewed Insufficiently evaluated not reviewed unknown Array 4 9954 0.000401848 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - COL8A2 Gly325Arg G325R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OSCP1 Val263Leu V263L not reviewed Insufficiently evaluated not reviewed unknown Array rs17442970 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MACF1 Ala4847Thr A4847T not reviewed Insufficiently evaluated not reviewed unknown Array rs587404 3877 10758 0.360383 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MACF1 Ser5167Thr S5167T not reviewed Insufficiently evaluated not reviewed unknown Array rs668556 6933 10758 0.644451 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF643 Arg197Lys R197K not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF643 Glu209Stop E209X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HECTD3 Val442Met V442M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RAD54L Ala97Glu A97E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZCCHC11 Asp796Tyr D796Y not reviewed Insufficiently evaluated not reviewed unknown Array rs12127732 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC1A7 Arg160Cys R160C not reviewed Insufficiently evaluated not reviewed unknown Array rs116623976 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C8B Val536Asp V536D not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SAMD13 Arg73Gly R73G not reviewed Insufficiently evaluated not reviewed unknown Array rs315527 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC18 Asn1015Asp N1015D not reviewed Insufficiently evaluated not reviewed unknown Array rs41292127 174 9586 0.0181515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR47 Arg661His R661H not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SARS Gly387Glu G387E not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SORT1 Ile124Val I124V not reviewed Insufficiently evaluated not reviewed unknown Array rs61797119 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MOV10 Arg765His R765H not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AP4B1 Val252Ala V252A not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM46C Ile281Val I281V not reviewed Insufficiently evaluated not reviewed unknown Array rs77871185 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BC150646 Arg73His R73H not reviewed Insufficiently evaluated not reviewed unknown Array rs1884147 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC150646 Cys79Arg C79R not reviewed Insufficiently evaluated not reviewed unknown Array rs1884146 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NUP210L Arg32Cys R32C not reviewed Insufficiently evaluated not reviewed unknown Array 4 9908 0.000403714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_027023 Phe74Ser F74S not reviewed Insufficiently evaluated not reviewed unknown Array rs12403379 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_027023 Phe77Ser F77S not reviewed Insufficiently evaluated not reviewed unknown Array rs12403380 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DAP3 Val345Ile V345I not reviewed Insufficiently evaluated not reviewed unknown Array rs41264967 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AK293928 Val8Met V8M not reviewed Insufficiently evaluated not reviewed unknown Array rs11264409 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RHBG His428Arg H428R not reviewed Insufficiently evaluated not reviewed unknown Array rs6668857 6457 10144 0.636534 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - FCRL3 Ala312Asp A312D not reviewed Insufficiently evaluated not reviewed unknown Array rs115903952 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLAMF8 Val103Leu V103L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP1A4 Pro600Ser P600S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SELL Thr36Ser T36S not reviewed Insufficiently evaluated not reviewed unknown Array rs61761863 30 9720 0.00308642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SEC16B Arg325Thr R325T not reviewed Insufficiently evaluated not reviewed unknown Array rs34246968 198 9594 0.0206379 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_026900 His52Leu H52L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HMCN1 Ile5255Thr I5255T not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PHLDA3 Arg158Cys R158C not reviewed Insufficiently evaluated not reviewed unknown Array rs1053592 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AY819761 Thr58Pro T58P not reviewed Insufficiently evaluated not reviewed unknown Array rs2993432 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PIGR Ala472Thr A472T not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF74 Leu76Ile L76I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SYT14 Glu270Del E270Del not reviewed Insufficiently evaluated not reviewed unknown Array rs2307890 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SERTAD4 Thr320Ile T320I not reviewed Insufficiently evaluated not reviewed unknown Array 105 10758 0.00976018 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQ576261 Cys64Arg C64R not reviewed Insufficiently evaluated not reviewed unknown Array rs7525401 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FLVCR1 Glu318Lys E318K not reviewed Insufficiently evaluated not reviewed unknown Array rs41297444 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C1ORF115 Ala49Del A49Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF115 Asp57Val D57V not reviewed Insufficiently evaluated not reviewed unknown Array rs117569201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_024236 Ser33Phe S33F not reviewed Insufficiently evaluated not reviewed unknown Array rs4382729 616 3234 0.190476 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - CAPN8 Thr483Met T483M not reviewed Insufficiently evaluated not reviewed unknown Array rs61823553 1580 3234 0.488559 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OBSCN Pro7163Leu P7163L not reviewed Insufficiently evaluated not reviewed unknown Array rs72762066 106 10228 0.0103637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IDI2-AS1 Cys92Arg C92R not reviewed Insufficiently evaluated not reviewed unknown Array rs7075695 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CAMK1D His323Tyr H323Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CAMK1D Ser360Leu S360L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ACBD7 Pro129Ser P129S not reviewed Insufficiently evaluated not reviewed unknown Array rs2007712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM188A Arg112Lys R112K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MLLT10 His970Tyr H970Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ARMC4 Arg440Ser R440S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK302694 Arg116Pro R116P not reviewed Insufficiently evaluated not reviewed unknown Array rs10740829 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK302694 Cys201Tyr C201Y not reviewed Insufficiently evaluated not reviewed unknown Array rs10826848 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK302694 Lys312Asn K312N not reviewed Insufficiently evaluated not reviewed unknown Array rs1826619 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF239 His229Pro H229P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM35B Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array rs112896108 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM35B His140Asp H140D not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TACR2 Ser370Asn S370N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ASCC1 Ile73Leu I73L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAJB12 Ser156Leu S156L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC109A Arg96His R96H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK294518 Leu87Ser L87S not reviewed Insufficiently evaluated not reviewed unknown Array rs2670191 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK294518 Ser144Asn S144N not reviewed Insufficiently evaluated not reviewed unknown Array rs7090749 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK302451 Ile59Thr I59T not reviewed Insufficiently evaluated not reviewed unknown Array rs11510994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFTPA2 Arg85Cys R85C not reviewed Insufficiently evaluated not reviewed unknown Array 33 10750 0.00306977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SFTPA1 Leu50Val L50V not reviewed Insufficiently evaluated not reviewed unknown Array rs1136450 4270 10706 0.398842 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - DYDC1 Val124Asp V124D not reviewed Insufficiently evaluated not reviewed unknown Array rs35605779 86 10678 0.00805394 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK298966 Asn84Ser N84S not reviewed Insufficiently evaluated not reviewed unknown Array rs3814205 1992 10754 0.185233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AGAP11 Ser320Ala S320A not reviewed Insufficiently evaluated not reviewed unknown Array 249 10748 0.0231671 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AGAP11 Arg432Gly R432G not reviewed Insufficiently evaluated not reviewed unknown Array rs117044926 257 10756 0.0238936 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEP55 Glu321Lys E321K not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOC3L Phe791Ser F791S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10754 0.00381253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD2 Pro146Leu P146L not reviewed Insufficiently evaluated not reviewed unknown Array rs36020819 54 10744 0.00502606 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CRTAC1 Val277Ala V277A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TECTB Pro92Thr P92T not reviewed Insufficiently evaluated not reviewed unknown Array 61 10758 0.0056702 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HABP2 Thr50Met T50M not reviewed Insufficiently evaluated not reviewed unknown Array rs3740530 5778 10758 0.537089 3 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 1 N - - C10ORF120 Arg191Cys R191C not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC6 Gly534Ser G534S not reviewed Insufficiently evaluated not reviewed unknown Array rs116256283 102 10566 0.0096536 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC2 Gly1919Val G1919V not reviewed Insufficiently evaluated not reviewed unknown Array rs41359254 181 10420 0.0173704 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC2 Ile2684Ser I2684S not reviewed Insufficiently evaluated not reviewed unknown Array rs41386948 188 10278 0.0182915 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC5AC Trp5682Stop W5682X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TRIM5 Gly110Glu G110E not reviewed Insufficiently evaluated not reviewed unknown Array rs56348930 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF215 Ser259Asn S259N not reviewed Insufficiently evaluated not reviewed unknown Array rs117380100 49 10758 0.00455475 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MICALCL Ala472Val A472V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SAAL1 Pro95Leu P95L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_015384 Ser21Pro S21P not reviewed Insufficiently evaluated not reviewed unknown Array rs2278132 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DCDC5 Asp100Gly D100G not reviewed Insufficiently evaluated not reviewed unknown Array 36 9478 0.00379827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_027134 Trp28Ser W28S not reviewed Insufficiently evaluated not reviewed unknown Array rs2666891 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GYLTL1B Arg265Trp R265W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MADD Ser935Cys S935C not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - NUP160 Ala40Ser A40S not reviewed Insufficiently evaluated not reviewed unknown Array rs2305984 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR_027044 Cys108Arg C108R not reviewed Insufficiently evaluated not reviewed unknown Array rs7939515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_027044 Val124Leu V124L not reviewed Insufficiently evaluated not reviewed unknown Array rs7101891 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR7E5P Ala189Val A189V not reviewed Insufficiently evaluated not reviewed unknown Array rs7481466 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR7E5P Ile16Val I16V not reviewed Insufficiently evaluated not reviewed unknown Array rs61896255 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR8U8 Tyr149His Y149H not reviewed Insufficiently evaluated not reviewed unknown Array rs76579014 3 10378 0.000289073 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR8U8 Tyr290Cys Y290C not reviewed Insufficiently evaluated not reviewed unknown Array rs72925530 173 9930 0.017422 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM132A Ala523Lys A523K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DAGLA Arg288Ser R288S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_026882 Pro28Leu P28L not reviewed Insufficiently evaluated not reviewed unknown Array rs198460 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_026882 Leu13Phe L13F not reviewed Insufficiently evaluated not reviewed unknown Array rs198459 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC22A20 Glu300Gln E300Q not reviewed Insufficiently evaluated not reviewed unknown Array rs514076 6408 10268 0.624075 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - SLC22A20 Thr380Ile T380I not reviewed Insufficiently evaluated not reviewed unknown Array rs2904979 8891 9854 0.902273 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SLC22A20 Val504Phe V504F not reviewed Insufficiently evaluated not reviewed unknown Array rs2904982 9273 10314 0.899069 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - SF3B2 Ala37Thr A37T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH3B2 Thr8Met T8M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TRIM49 Cys389Arg C389R not reviewed Insufficiently evaluated not reviewed unknown Array rs9666809 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KDM4DL Phe258Ser F258S not reviewed Insufficiently evaluated not reviewed unknown Array rs16921260 111 3234 0.0343228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PGR Gln75Lys Q75K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NPAT Asn1216Asp N1216D not reviewed Insufficiently evaluated not reviewed unknown Array 32 9588 0.00333751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BCO2 His357Arg H357R not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BUD13 Arg583Cys R583C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - APOA4 Val13Met V13M not reviewed Insufficiently evaluated not reviewed unknown Array rs12721041 139 10750 0.0129302 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DSCAML1 Val577Gly V577G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - VPS11 Lys887Arg K887R not reviewed Insufficiently evaluated not reviewed unknown Array rs15818 4289 10088 0.425159 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CBL Ala757Thr A757T not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIAE Thr312Met T312M not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC37A2 Gly360Ser G360S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PATE3 Arg29Cys R29C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BARX2 Ser64Pro S64P not reviewed Insufficiently evaluated not reviewed unknown Array 164 10758 0.0152445 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NFRKB Asn110Ser N110S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS8 Gly605Arg G605R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754851 81 9810 0.00825688 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TAPBPL Asp72Asn D72N not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK303618 Phe271Leu F271L not reviewed Insufficiently evaluated not reviewed unknown Array rs2908220 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX12 His825Pro H825P not reviewed Insufficiently evaluated not reviewed unknown Array rs3825327 264 2736 0.0964912 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - RPL13AP20 Gln74Arg Q74R not reviewed Insufficiently evaluated not reviewed unknown Array rs10845659 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLCO1B3 Gly437Ser G437S not reviewed Insufficiently evaluated not reviewed unknown Array rs61673910 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001146221 Ser326Thr S326T not reviewed Insufficiently evaluated not reviewed unknown Array rs10842975 1615 3234 0.499382 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CU676937 Gly77Ala G77A not reviewed Insufficiently evaluated not reviewed unknown Array rs3751275 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GALNT6 Ser32Asn S32N not reviewed Insufficiently evaluated not reviewed unknown Array rs34486781 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC4A8 Met519Val M519V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK300121 Asn4Asp N4D not reviewed Insufficiently evaluated not reviewed unknown Array rs2168762 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ERBB3 Leu1177Ile L1177I not reviewed Insufficiently evaluated not reviewed unknown Array rs55699040 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NACA Thr500Ile T500I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPL14P1 Gly22Arg G22R not reviewed Insufficiently evaluated not reviewed unknown Array rs699596 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RPL14P1 Ala102Asp A102D not reviewed Insufficiently evaluated not reviewed unknown Array rs699597 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPSAP52 Thr179Ser T179S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - E2F7 Pro275Arg P275R not reviewed Insufficiently evaluated not reviewed unknown Array rs61754233 138 10758 0.0128277 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRR Gln257Glu Q257E not reviewed Insufficiently evaluated not reviewed unknown Array rs61729287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ISCU Phe7Gly F7G not reviewed Insufficiently evaluated not reviewed unknown Array rs67681514 27 0 44 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - USP30 Arg5Gln R5Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANAPC7 Gln128His Q128H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CUX2 Glu1283Lys E1283K not reviewed Insufficiently evaluated not reviewed unknown Array rs61745424 185 10406 0.0177782 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETD1B His11Gln H11Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF268 Leu679Phe L679F not reviewed Insufficiently evaluated not reviewed unknown Array rs36127550 481 3234 0.148732 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF268 Arg860Thr R860T not reviewed Insufficiently evaluated not reviewed unknown Array rs62644541 693 3234 0.214286 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - AK057223 Ala346Val A346V not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK057223 Ser230Cys S230C not reviewed Insufficiently evaluated not reviewed unknown Array rs36146434 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LATS2 Leu1025Pro L1025P not reviewed Insufficiently evaluated not reviewed unknown Array rs56116059 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZDHHC20 Arg332His R332H not reviewed Insufficiently evaluated not reviewed unknown Array rs77107022 195 9642 0.020224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TPTE2P1 Gln15His Q15H not reviewed Insufficiently evaluated not reviewed unknown Array rs9511546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PABPC3 Gly232Arg G232R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - N4BP2L2 Asn521Ile N521I not reviewed Insufficiently evaluated not reviewed unknown Array 5 9456 0.000528764 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - STARD13 Ser339Asn S339N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM194B GluGluGluGluTyrLeu135Del EEEEYL135Del not reviewed Insufficiently evaluated not reviewed unknown Array rs28548352 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TDRD3 Asn408Del N408Del not reviewed Insufficiently evaluated not reviewed unknown Array rs75684327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CTAGE11P Val45Leu V45L not reviewed Insufficiently evaluated not reviewed unknown Array rs61960514 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE11P Leu43Gln L43Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SCEL Asn529Ser N529S not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF40 Lys2563Thr K2563T not reviewed Insufficiently evaluated not reviewed unknown Array rs41281660 9 3230 0.00278638 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COL4A2 Pro1610Ser P1610S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10548 9.4804e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_028064 His49Gln H49Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZFHX2 Ser1089Arg S1089R not reviewed Insufficiently evaluated not reviewed unknown Array rs223124 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZFHX2 Val497Ala V497A not reviewed Insufficiently evaluated not reviewed unknown Array rs4982766 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PCK2 Arg423Stop R423X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 10 Y 3 N - - HEATR5A Leu86Val L86V not reviewed Insufficiently evaluated not reviewed unknown Array 4 9728 0.000411184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC6 Thr236Ile T236I not reviewed Insufficiently evaluated not reviewed unknown Array rs4901284 3310 10676 0.310041 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - GPX2 Tyr124Stop Y124X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MPP5 Ser141Tyr S141Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61744208 312 10758 0.0290017 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTLL5 Thr958Ala T958A not reviewed Insufficiently evaluated not reviewed unknown Array 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C14ORF145 Gln443Arg Q443R not reviewed Insufficiently evaluated not reviewed unknown Array rs45488095 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC88C Arg1299Cys R1299C not reviewed Insufficiently evaluated not reviewed unknown Array 60 10682 0.00561693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SMEK1 Arg647His R647H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_020554 Thr92Ala T92A not reviewed Insufficiently evaluated not reviewed unknown Array rs2249778 3409 10758 0.31688 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SLC25A29 Gly63Glu G63E not reviewed Insufficiently evaluated not reviewed unknown Array rs3742379 2673 10346 0.258361 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AHNAK2 Val3862Phe V3862F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10026 9.974e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C14ORF80 Arg80His R80H not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BX640625 Ile332Val I332V not reviewed Insufficiently evaluated not reviewed unknown Array 37 3052 0.0121232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - BX640625 Met325Leu M325L not reviewed Insufficiently evaluated not reviewed unknown Array 206 3474 0.0592976 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - BX640625 Glu302Asp E302D not reviewed Insufficiently evaluated not reviewed unknown Array rs11628783 704 3358 0.209649 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - BX640625 Tyr285Phe Y285F not reviewed Insufficiently evaluated not reviewed unknown Array rs11970 284 3180 0.0893082 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BX640625 Arg108Pro R108P not reviewed Insufficiently evaluated not reviewed unknown Array rs9972103 7032 9864 0.712895 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BX640625 Ser99Pro S99P not reviewed Insufficiently evaluated not reviewed unknown Array rs61984162 7667 10286 0.745382 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CR623477 Val134Gly V134G not reviewed Insufficiently evaluated not reviewed unknown Array rs8020298 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GOLGA6L6 His486Arg H486R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BCL8 Cys81Arg C81R not reviewed Insufficiently evaluated not reviewed unknown Array rs7497658 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BCL8 Val33Ala V33A not reviewed Insufficiently evaluated not reviewed unknown Array rs6422240 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GABRB3 Arg360Trp R360W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLGA8G Glu32Gln E32Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FMN1 Gly436Val G436V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 8 Y 3 N - - BMF Val113Pro V113P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAK6 Arg191His R191H not reviewed Insufficiently evaluated not reviewed unknown Array rs61732685 6 10740 0.000558659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MGA Ala606Val A606V not reviewed Insufficiently evaluated not reviewed unknown Array 29 9722 0.00298292 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPKBP1 Val160Ile V160I not reviewed Insufficiently evaluated not reviewed unknown Array rs61729967 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PLA2G4E Asp27Gly D27G not reviewed Insufficiently evaluated not reviewed unknown Array 4 9628 0.000415454 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - USP50 Arg306Trp R306W not reviewed Insufficiently evaluated not reviewed unknown Array 1 9586 0.000104318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO1E His379Asp H379D not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXL22 Ile82Thr I82T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZWILCH Thr219Ile T219I not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MYO9A Ser1971Leu S1971L not reviewed Insufficiently evaluated not reviewed unknown Array 260 10758 0.0241681 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_027024 Met141Thr M141T not reviewed Insufficiently evaluated not reviewed unknown Array rs12592294 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IQGAP1 Glu415Lys E415K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FURIN Arg464Trp R464W not reviewed Insufficiently evaluated not reviewed unknown Array 9 10754 0.000836897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PGPEP1L Lys178Arg K178R not reviewed Insufficiently evaluated not reviewed unknown Array 21 9850 0.00213198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PIGQ Thr145Ala T145A not reviewed Insufficiently evaluated not reviewed unknown Array rs71391136 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIGQ Arg27Gln R27Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1045283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR90 Thr1726Ile T1726I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK301023 Val76Ile V76I not reviewed Insufficiently evaluated not reviewed unknown Array rs12443803 2032 10754 0.188953 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NR_027242 Leu22Pro L22P not reviewed Insufficiently evaluated not reviewed unknown Array rs530518 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CACNA1H Thr1606Met T1606M not reviewed Insufficiently evaluated not reviewed unknown Array rs59286323 64 10230 0.00625611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPS34 Leu109Phe L109F not reviewed Insufficiently evaluated not reviewed unknown Array rs11552434 110 10698 0.0102823 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C16ORF59 Arg280His R280H not reviewed Insufficiently evaluated not reviewed unknown Array rs11552287 21 10394 0.0020204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SRRM2 Thr2513Ala T2513A not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HSP90B2P Arg623Cys R623C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MVP Arg84Cys R84C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF40 Arg194His R194H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC068290 Gln163Arg Q163R not reviewed Insufficiently evaluated not reviewed unknown Array rs915995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC068290 Arg224Gly R224G not reviewed Insufficiently evaluated not reviewed unknown Array rs395061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC131699 Trp54Cys W54C not reviewed Insufficiently evaluated not reviewed unknown Array rs28538364 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC131699 Val87Ala V87A not reviewed Insufficiently evaluated not reviewed unknown Array rs28366434 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC131699 Arg140Trp R140W not reviewed Insufficiently evaluated not reviewed unknown Array rs79241300 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC131699 Pro144His P144H not reviewed Insufficiently evaluated not reviewed unknown Array rs28444662 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KATNB1 Pro452Ser P452S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10754 0.00213874 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCDC113 Lys156Arg K156R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CNOT1 Ala1480Val A1480V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDPR Tyr59His Y59H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDPR Leu61Gln L61Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PDPR Thr592Ala T592A not reviewed Insufficiently evaluated not reviewed unknown Array 7 3990 0.00175438 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXOSC6 Ser47Arg S47R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AARS Lys820Arg K820R not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FUK Arg939Gln R939Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17886060 102 10150 0.0100493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYDIN Ala4041Thr A4041T not reviewed Insufficiently evaluated not reviewed unknown Array rs62049823 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CHST4 Met89Ile M89I not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF821 Thr237Met T237M not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RFWD3 Ser361Phe S361F not reviewed Insufficiently evaluated not reviewed unknown Array rs77132945 154 10756 0.0143176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNRF1 Tyr37Phe Y37F not reviewed Insufficiently evaluated not reviewed unknown Array 52 4968 0.010467 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PKD1L2 Met2319Leu M2319L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - USP10 Pro227Ser P227S not reviewed Insufficiently evaluated not reviewed unknown Array 146 9800 0.014898 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GEMIN4 Asn571Ser N571S not reviewed Insufficiently evaluated not reviewed unknown Array rs111822058 63 10202 0.00617526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR3A2 Gly316Trp G316W not reviewed Insufficiently evaluated not reviewed unknown Array rs61729398 162 10418 0.01555 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP2A3 Arg674His R674H not reviewed Insufficiently evaluated not reviewed unknown Array 33 10744 0.00307148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPNS3 Pro512Arg P512R not reviewed Insufficiently evaluated not reviewed unknown Array 114 10758 0.0105968 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC150535 His74Arg H74R not reviewed Insufficiently evaluated not reviewed unknown Array rs34850425 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLTPD2 Val152Ala V152A not reviewed Insufficiently evaluated not reviewed unknown Array rs34850425 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MINK1 Val771Ala V771A not reviewed Insufficiently evaluated not reviewed unknown Array rs11556634 5381 10200 0.527549 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MINK1 Pro775Leu P775L not reviewed Insufficiently evaluated not reviewed unknown Array rs11556635 4929 10154 0.485424 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ENO3 Asn71Ser N71S not reviewed Insufficiently evaluated not reviewed unknown Array rs238238 7199 10758 0.669176 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ENO3 Val85Ala V85A not reviewed Insufficiently evaluated not reviewed unknown Array rs238239 4842 10758 0.450084 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ALOX12 Thr568Asn T568N not reviewed Insufficiently evaluated not reviewed unknown Array rs41359946 59 10758 0.00548429 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK303306 Thr192Ser T192S not reviewed Insufficiently evaluated not reviewed unknown Array rs72840907 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RCVRN Ala200Thr A200T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SCO1 His114Gln H114Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - LRRC48 Gly82Val G82V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10110 0.000593471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK293815 His218Tyr H218Y not reviewed Insufficiently evaluated not reviewed unknown Array rs4924987 6423 10756 0.597155 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PHF12 Leu979Pro L979P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPACA3 Cys80Tyr C80Y not reviewed Insufficiently evaluated not reviewed unknown Array rs16967845 210 10758 0.0195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KRT9 Ser366Gly S366G not reviewed Insufficiently evaluated not reviewed unknown Array rs114395985 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - DUSP3 Arg119Gln R119Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1267 Arg525Pro R525P not reviewed Insufficiently evaluated not reviewed unknown Array 10749 10758 0.999163 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - LRRC37A Thr1255Ala T1255A not reviewed Insufficiently evaluated not reviewed unknown Array rs8065693 3757 5298 0.709136 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NGFR Ser132Leu S132L not reviewed Insufficiently evaluated not reviewed unknown Array 7 10708 0.000653716 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TBX4 Ala35Val A35V not reviewed Insufficiently evaluated not reviewed unknown Array 60 7320 0.00819672 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - C17ORF60 Gln24Lys Q24K not reviewed Insufficiently evaluated not reviewed unknown Array 37 9644 0.00383658 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLEKHM1P Ile494Val I494V not reviewed Insufficiently evaluated not reviewed unknown Array rs6504255 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABCA10 Ser693Ala S693A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C17ORF54 Cys131Ser C131S not reviewed Insufficiently evaluated not reviewed unknown Array rs2683163 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C17ORF54 Thr104Met T104M not reviewed Insufficiently evaluated not reviewed unknown Array rs4416068 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_026857 Ser63Gly S63G not reviewed Insufficiently evaluated not reviewed unknown Array rs11870986 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BAHCC1 Ala299Thr A299T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF70 Thr817Ala T817A not reviewed Insufficiently evaluated not reviewed unknown Array rs14422 9910 10746 0.922204 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C17ORF70 Pro660Leu P660L not reviewed Insufficiently evaluated not reviewed unknown Array rs11552304 6173 10742 0.57466 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TBCD Glu755Lys E755K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SMCHD1 Ser1204Pro S1204P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_026659 Glu82Lys E82K not reviewed Insufficiently evaluated not reviewed unknown Array rs643507 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DLGAP1 Arg816Gln R816Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35822832 195 10758 0.018126 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001145194 His54Gln H54Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1395063 659 3234 0.203772 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - ELP2 Ala799Val A799V not reviewed Insufficiently evaluated not reviewed unknown Array rs35629953 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TCEB3B Thr52Met T52M not reviewed Insufficiently evaluated not reviewed unknown Array 17 10620 0.00160075 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK301799 Val63Met V63M not reviewed Insufficiently evaluated not reviewed unknown Array rs58215084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NETO1 Ala12Thr A12T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10752 0.00288318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - POLRMT Ala444Val A444V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLK5P Gly212Val G212V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SCAMP4 Ala49Thr A49T not reviewed Insufficiently evaluated not reviewed unknown Array rs45562539 146 10484 0.013926 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BTBD2 Phe177Leu F177L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCLN His44Gln H44Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DOHH Pro152Leu P152L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC143983 Phe80Leu F80L not reviewed Insufficiently evaluated not reviewed unknown Array rs11878617 1001 3234 0.309524 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - EMR1 Val192Ile V192I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EMR4P Arg55His R55H not reviewed Insufficiently evaluated not reviewed unknown Array rs252579 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK304151 Ser34Leu S34L not reviewed Insufficiently evaluated not reviewed unknown Array rs17002013 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK304151 Phe47Leu F47L not reviewed Insufficiently evaluated not reviewed unknown Array rs62103612 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GCDH Ala316Thr A316T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CCDC105 Glu159Gln E159Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9976 0.00010024 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK297837 Trp142Arg W142R not reviewed Insufficiently evaluated not reviewed unknown Array rs4807986 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MYO9B Gly1455Ser G1455S not reviewed Insufficiently evaluated not reviewed unknown Array rs117099942 284 10172 0.0279198 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PGLS Ala243Val A243V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GMIP Asp404Gly D404G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF486 Tyr210Stop Y210X not reviewed Insufficiently evaluated not reviewed unknown Array 51 10590 0.00481586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - POP4 Arg173Leu R173L not reviewed Insufficiently evaluated not reviewed unknown Array rs61731483 182 10758 0.0169176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA0355 Arg623His R623H not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_024562 Thr71Met T71M not reviewed Insufficiently evaluated not reviewed unknown Array rs7250814 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FFAR3 Trp174Arg W174R not reviewed Insufficiently evaluated not reviewed unknown Array rs424241 39 5710 0.00683012 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FFAR3 Val227Leu V227L not reviewed Insufficiently evaluated not reviewed unknown Array rs403989 6 8216 0.000730282 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SIPA1L3 Arg787His R787H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SYCN Ala27Thr A27T not reviewed Insufficiently evaluated not reviewed unknown Array 2 9774 0.000204624 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_182704 Lys283Arg K283R not reviewed Insufficiently evaluated not reviewed unknown Array rs56149652 2249 9546 0.235596 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - NM_207646 Arg138Lys R138K not reviewed Insufficiently evaluated not reviewed unknown Array rs7258833 2260 3234 0.698825 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - CYP2B6 Stop291Trp X291W not reviewed Insufficiently evaluated not reviewed unknown Array rs12986210 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSG9 Thr73Met T73M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK296854 His6Arg H6R not reviewed Insufficiently evaluated not reviewed unknown Array rs2682585 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK296854 Trp116Arg W116R not reviewed Insufficiently evaluated not reviewed unknown Array rs304731 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXO46 Glu205Asp E205D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK094504 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs117306460 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_004401 Arg242His R242H not reviewed Insufficiently evaluated not reviewed unknown Array rs3826846 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RASIP1 Gln947Arg Q947R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK297906 Arg233Pro R233P not reviewed Insufficiently evaluated not reviewed unknown Array rs3810180 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK297906 Thr175Ala T175A not reviewed Insufficiently evaluated not reviewed unknown Array rs79891871 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH16A1 Arg358His R358H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATF5 Ser190Pro S190P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF761 Ile122Ser I122S not reviewed Insufficiently evaluated not reviewed unknown Array rs2708743 7378 10758 0.685815 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ZNF761 Val168Ile V168I not reviewed Insufficiently evaluated not reviewed unknown Array rs1984432 8285 10754 0.770411 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - ZNF761 Gly528Ser G528S not reviewed Insufficiently evaluated not reviewed unknown Array rs2708742 4102 10758 0.381298 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ZNF761 Glu603Gln E603Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2617726 4332 10754 0.402827 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ZNF813 Asp170Gly D170G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LILRB3 His405Tyr H405Y not reviewed Insufficiently evaluated not reviewed unknown Array 1441 10068 0.143127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - KIR3DL2 Glu390Asp E390D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - BC034929 Ala60Ser A60S not reviewed Insufficiently evaluated not reviewed unknown Array rs61734204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPRH Ala758Asp A758D not reviewed Insufficiently evaluated not reviewed unknown Array rs61734204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPRH Gln572Lys Q572K not reviewed Insufficiently evaluated not reviewed unknown Array rs61734206 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM71E2 Met879Val M879V not reviewed Insufficiently evaluated not reviewed unknown Array rs74522611 14 3234 0.004329 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001144950 Leu976Pro L976P not reviewed Insufficiently evaluated not reviewed unknown Array rs671542 3231 3234 0.999072 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - NM_001144950 Met1274Ile M1274I not reviewed Insufficiently evaluated not reviewed unknown Array rs4801331 3223 3234 0.996599 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - PEG3 Leu1390Stop L1390X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF419 Arg54His R54H not reviewed Insufficiently evaluated not reviewed unknown Array 172 10752 0.015997 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF544 Arg615Stop R615X not reviewed Insufficiently evaluated not reviewed unknown Array rs79258645 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SNTG2 Glu50Ala E50A not reviewed Insufficiently evaluated not reviewed unknown Array 78 10108 0.00771666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GREB1 Ala1172Gly A1172G not reviewed Insufficiently evaluated not reviewed unknown Array 103 9790 0.0105209 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCOA1 Ile1098Met I1098M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF53 Pro142Leu P142L not reviewed Insufficiently evaluated not reviewed unknown Array rs61741796 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SULT6B1 Arg143Ser R143S not reviewed Insufficiently evaluated not reviewed unknown Array rs45439591 289 10734 0.0269238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SULT6B1 Lys50Glu K50E not reviewed Insufficiently evaluated not reviewed unknown Array rs45493492 285 10742 0.0265314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SULT6B1 Ala23Thr A23T not reviewed Insufficiently evaluated not reviewed unknown Array rs45552433 275 10758 0.0255624 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PSME4 Arg1810Gln R1810Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF638 Thr821Lys T821K not reviewed Insufficiently evaluated not reviewed unknown Array 20 10756 0.00185943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEKT4 Arg107His R107H not reviewed Insufficiently evaluated not reviewed unknown Array rs74673300 54 10722 0.00503637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GPAT2 Leu677Ile L677I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM178B Pro4Ser P4S not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MGAT4A Thr236Ala T236A not reviewed Insufficiently evaluated not reviewed unknown Array rs61748145 86 10756 0.00799554 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C2ORF29 Ser262Phe S262F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC127844 His23Arg H23R not reviewed Insufficiently evaluated not reviewed unknown Array rs1561448 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DL492456 Tyr109Cys Y109C not reviewed Insufficiently evaluated not reviewed unknown Array rs6733578 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LRP1B Arg2609Leu R2609L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NEB Arg880His R880H not reviewed Insufficiently evaluated not reviewed unknown Array 1 9562 0.00010458 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LY75 Ala1148Ser A1148S not reviewed Insufficiently evaluated not reviewed unknown Array rs34702313 144 10758 0.0133854 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LY75 Thr784Ala T784A not reviewed Insufficiently evaluated not reviewed unknown Array rs116003141 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LY75 Arg731His R731H not reviewed Insufficiently evaluated not reviewed unknown Array rs78088512 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FASTKD1 Thr699Ile T699I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLHL23 Tyr257His Y257H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR_027433 Ala156Pro A156P not reviewed Insufficiently evaluated not reviewed unknown Array rs7563812 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DYNC1I2 Val233Ile V233I not reviewed Insufficiently evaluated not reviewed unknown Array 1 9430 0.000106044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SSFA2 Arg724Lys R724K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BX647691 Ile147Thr I147T not reviewed Insufficiently evaluated not reviewed unknown Array rs4666689 8259 9542 0.865542 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BX647691 Thr1381Ala T1381A not reviewed Insufficiently evaluated not reviewed unknown Array rs1468999 9426 9618 0.980037 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - AK295603 Val42Ala V42A not reviewed Insufficiently evaluated not reviewed unknown Array rs10221698 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK295603 Ser337Thr S337T not reviewed Insufficiently evaluated not reviewed unknown Array rs10197514 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DYTN Gly427Trp G427W not reviewed Insufficiently evaluated not reviewed unknown Array rs114902131 15 9944 0.00150845 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAP2 Gly991Arg G991R not reviewed Insufficiently evaluated not reviewed unknown Array rs35927101 277 10758 0.0257483 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUBA4B Gly107Glu G107E not reviewed Insufficiently evaluated not reviewed unknown Array rs3896929 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUBA4B Met120Val M120V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK11IP Pro407Leu P407L not reviewed Insufficiently evaluated not reviewed unknown Array 1 9918 0.000100826 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FARSB Ala14Asp A14D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP40 Arg1123Cys R1123C not reviewed Insufficiently evaluated not reviewed unknown Array rs1048603 4105 9762 0.420508 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - USP40 Val678Ala V678A not reviewed Insufficiently evaluated not reviewed unknown Array rs838543 2129 10106 0.210667 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HEATR7B1 Ala190Thr A190T not reviewed Insufficiently evaluated not reviewed unknown Array rs879665 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HEATR7B1 Val197Ile V197I not reviewed Insufficiently evaluated not reviewed unknown Array rs879664 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MSL3L2 Ala56Asp A56D not reviewed Insufficiently evaluated not reviewed unknown Array rs213544 236 3234 0.0729746 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NR_026926 Gly76Arg G76R not reviewed Insufficiently evaluated not reviewed unknown Array rs7558525 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_026926 Pro48His P48H not reviewed Insufficiently evaluated not reviewed unknown Array rs7584376 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_026926 Val23Gly V23G not reviewed Insufficiently evaluated not reviewed unknown Array rs7572392 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNPEPL1 Glu11Lys E11K not reviewed Insufficiently evaluated not reviewed unknown Array rs112339259 94 10732 0.00875885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - THAP4 Val81Ser V81S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PDYN Arg180His R180H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ISM1 Ala247Thr A247T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10166 0.000196734 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FRG1B Arg119Pro R119P not reviewed Insufficiently evaluated not reviewed unknown Array rs62206786 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C20ORF132 Gln916Arg Q916R not reviewed Insufficiently evaluated not reviewed unknown Array rs1744760 3892 9740 0.399589 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C20ORF132 Thr469Asn T469N not reviewed Insufficiently evaluated not reviewed unknown Array rs1780680 3768 9604 0.392337 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - C20ORF132 Lys349Arg K349R not reviewed Insufficiently evaluated not reviewed unknown Array rs1615246 3911 9964 0.392513 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - MANBAL Ala52Thr A52T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZHX3 Arg832Gln R832Q not reviewed Insufficiently evaluated not reviewed unknown Array rs117585566 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK307192 Leu78Phe L78F not reviewed Insufficiently evaluated not reviewed unknown Array rs3088220 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNG1 Ala94Asn A94N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF107 ProCys37GlnTyr PC37QY not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDH4 Met469Lys M469K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NRIP1 His221Arg H221R not reviewed Insufficiently evaluated not reviewed unknown Array 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - URB1 Ala540Thr A540T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C21ORF63 Arg19Gln R19Q not reviewed Insufficiently evaluated not reviewed unknown Array rs3177478 3964 10758 0.36847 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C21ORF62 Phe181Leu F181L not reviewed Insufficiently evaluated not reviewed unknown Array rs11390393 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-1 Asp117Ser D117S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP10-1 Lys116Glu K116E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP10-1 CysLeu110TyrVal CL110YV not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DGCR14 Pro99Leu P99L not reviewed Insufficiently evaluated not reviewed unknown Array rs111488352 83 10758 0.00771519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_027052 Arg29His R29H not reviewed Insufficiently evaluated not reviewed unknown Array rs28372939 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_027052 Tyr63Asn Y63N not reviewed Insufficiently evaluated not reviewed unknown Array rs9625292 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC157 Thr16Ala T16A not reviewed Insufficiently evaluated not reviewed unknown Array rs9606721 57 3234 0.0176252 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - INPP5J Ser290Arg S290R not reviewed Insufficiently evaluated not reviewed unknown Array rs41282561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SFI1 Arg632Trp R632W not reviewed Insufficiently evaluated not reviewed unknown Array rs117137547 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SH3BP1 Ala63Thr A63T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10042 0.000199163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIBC2 Arg247Cys R247C not reviewed Insufficiently evaluated not reviewed unknown Array rs2142661 1515 10758 0.140825 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - BC144501 Pro64Thr P64T not reviewed Insufficiently evaluated not reviewed unknown Array rs8137874 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC144501 Ile45Thr I45T not reviewed Insufficiently evaluated not reviewed unknown Array rs12053799 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNB2 Met959Val M959V not reviewed Insufficiently evaluated not reviewed unknown Array rs62621407 46 9716 0.00473446 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C3ORF32 Cys193Gly C193G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATG7 Pro75His P75H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EFHB Lys557Gln K557Q not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EFHB Gly526Asp G526D not reviewed Insufficiently evaluated not reviewed unknown Array 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TOP2B Pro1305Leu P1305L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ULK4 Arg862Stop R862X not reviewed Insufficiently evaluated not reviewed unknown Array 25 9498 0.00263213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HHATL Arg458Gly R458G not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - P4HTM Ser269Thr S269T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10494 9.5292e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPX1 Pro199Leu P199L not reviewed Insufficiently evaluated not reviewed unknown Array rs1050450 2704 9328 0.28988 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - DNAH1 Arg3651His R3651H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10214 0.000293714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEMA3G Arg728Cys R728C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - STAB1 Arg1788Cys R1788C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SYNPR Leu20Phe L20F not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC25A26 Ser41Asn S41N not reviewed Insufficiently evaluated not reviewed unknown Array 1179 3234 0.364564 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - SLC25A26 Thr208Met T208M not reviewed Insufficiently evaluated not reviewed unknown Array rs13874 5992 10758 0.556981 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - OR5H2 Thr43Ala T43A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB11 Gln120Lys Q120K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC54 Ser148Phe S148F not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_015394 Gly45Trp G45W not reviewed Insufficiently evaluated not reviewed unknown Array rs9837335 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_015394 Phe74Ser F74S not reviewed Insufficiently evaluated not reviewed unknown Array rs9861097 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NM_001145553 Thr77Ile T77I not reviewed Insufficiently evaluated not reviewed unknown Array rs769533 3228 3232 0.998762 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ARHGAP31 Gln938His Q938H not reviewed Insufficiently evaluated not reviewed unknown Array 14 9800 0.00142857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TPRA1 Ser67Phe S67F not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABTB1 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ABTB1 Arg306Stop R306X not reviewed Insufficiently evaluated not reviewed unknown Array rs35976576 55 10750 0.00511628 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DNAJC13 Glu1740Gln E1740Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PPP2R3A Ile853Thr I853T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLSCR4 Gln151Lys Q151K not reviewed Insufficiently evaluated not reviewed unknown Array rs114444125 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNMB3 Asn163Ser N163S not reviewed Insufficiently evaluated not reviewed unknown Array rs55710741 406 8910 0.0455668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001146686 Ser29Pro S29P not reviewed Insufficiently evaluated not reviewed unknown Array rs13075089 1263 3234 0.390538 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Asp2115Val D2115V not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MFI2 Arg409Gln R409Q not reviewed Insufficiently evaluated not reviewed unknown Array rs45625439 134 10680 0.0125468 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA11P Val173Leu V173L not reviewed Insufficiently evaluated not reviewed unknown Array rs59508097 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA11P Gly73Glu G73E not reviewed Insufficiently evaluated not reviewed unknown Array rs2280250 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF721 Arg730Leu R730L not reviewed Insufficiently evaluated not reviewed unknown Array rs61793704 555 10222 0.0542947 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - PIGG Leu463Val L463V not reviewed Insufficiently evaluated not reviewed unknown Array rs115766555 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR78 Leu251Phe L251F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_015450 Tyr49Ser Y49S not reviewed Insufficiently evaluated not reviewed unknown Array rs2080023 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CC2D2A Lys507Glu K507E not reviewed Insufficiently evaluated not reviewed unknown Array 69 9450 0.00730159 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - FAM184B Ser1022Phe S1022F not reviewed Insufficiently evaluated not reviewed unknown Array rs61741403 101 3234 0.0312307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC030111 Cys15Arg C15R not reviewed Insufficiently evaluated not reviewed unknown Array rs7686575 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - UGT2B15 Lys523Thr K523T not reviewed Insufficiently evaluated not reviewed unknown Array rs4148269 5317 10748 0.494697 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FRAS1 Gly1023Glu G1023E not reviewed Insufficiently evaluated not reviewed unknown Array rs17459809 158 9906 0.0159499 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - FRAS1 Ala1042Thr A1042T not reviewed Insufficiently evaluated not reviewed unknown Array rs114077522 157 9934 0.0158043 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - AK298931 Glu88Gln E88Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11731416 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C4ORF21 Glu1512Stop E1512X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TKTL2 Glu47Lys E47K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TERT Ala1062Thr A1062T not reviewed Insufficiently evaluated not reviewed unknown Array rs35719940 166 10342 0.0160511 1 1 1 3 3 - - 2 - - - - - - - - - Y - - - - Y Y 1 - 3 N - - TRIO Gly2469Ser G2469S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MYO10 Arg124His R124H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10428 9.5895e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C5ORF42 Pro2728Thr P2728T not reviewed Insufficiently evaluated not reviewed unknown Array rs77014998 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD55 Ser376Pro S376P not reviewed Insufficiently evaluated not reviewed unknown Array rs77017041 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SREK1IP1 Lys121Asn K121N not reviewed Insufficiently evaluated not reviewed unknown Array rs80170948 296 10660 0.0277674 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL4A3BP Ile617Val I617V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10746 0.000186115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPIP5K2 Gly145Val G145V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM232 Lys27Arg K27R not reviewed Insufficiently evaluated not reviewed unknown Array 27 3208 0.00841646 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRR16 Cys150Arg C150R not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NM_001161546 Val763Ala V763A not reviewed Insufficiently evaluated not reviewed unknown Array rs10078623 3175 3216 0.987251 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKHD1-EIF4EBP3 Gly1586Ser G1586S not reviewed Insufficiently evaluated not reviewed unknown Array rs1051309 154 10758 0.0143149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - IK Lys310Arg K310R not reviewed Insufficiently evaluated not reviewed unknown Array rs34282994 87 9656 0.00900994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AX746964 Thr27Pro T27P not reviewed Insufficiently evaluated not reviewed unknown Array rs116577362 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHAC2 Gln173His Q173H not reviewed Insufficiently evaluated not reviewed unknown Array 32 10756 0.00297508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KCTD16 Asp160Asn D160N not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDE6A Gln492His Q492H not reviewed Insufficiently evaluated not reviewed unknown Array rs17711594 57 10758 0.00529838 2 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - PDGFRB Pro260Leu P260L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NMUR2 Glu376Lys E376K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735377 195 10758 0.018126 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF4B Gln981His Q981H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ATP10B Asn865Asp N865D not reviewed Insufficiently evaluated not reviewed unknown Array 8 9848 0.000812347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HMMR Leu596Ile L596I not reviewed Insufficiently evaluated not reviewed unknown Array rs2230363 977 10720 0.0911381 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GPRIN1 Gly86Cys G86C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM193B Ser490Phe S490F not reviewed Insufficiently evaluated not reviewed unknown Array rs116293002 121 10274 0.0117773 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SQSTM1 Val240Ile V240I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - BTNL8 Ser62Gly S62G not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WRNIP1 Asp184Glu D184E not reviewed Insufficiently evaluated not reviewed unknown Array 7 6322 0.00110724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIP5K1P1 Gly372Arg G372R not reviewed Insufficiently evaluated not reviewed unknown Array rs6597293 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HIST1H4B Ser2Tyr S2Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - POM121L2 Ala967Thr A967T not reviewed Insufficiently evaluated not reviewed unknown Array rs41269255 343 3234 0.106061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - POM121L2 Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17688097 102 3234 0.0315399 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HLA-F Lys56Glu K56E not reviewed Insufficiently evaluated not reviewed unknown Array rs2275854 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1949 Arg140Lys R140K not reviewed Insufficiently evaluated not reviewed unknown Array 1 6412 0.000155957 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DDR1 Leu358Ile L358I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRRC2A Pro559Ser P559S not reviewed Insufficiently evaluated not reviewed unknown Array rs45544132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRRC2A Arg1563Gln R1563Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11538263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C6ORF10 Ser143Pro S143P not reviewed Insufficiently evaluated not reviewed unknown Array rs560505 2254 7512 0.300053 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BRD2 Ser92Ile S92I not reviewed Insufficiently evaluated not reviewed unknown Array rs974357 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL11A2 Gly297Ser G297S not reviewed Insufficiently evaluated not reviewed unknown Array 1 8952 0.000111706 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - DNAH8 Asp1613Glu D1613E not reviewed Insufficiently evaluated not reviewed unknown Array rs45519938 93 10758 0.00864473 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CUL9 Gln359Glu Q359E not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC29A1 Ile216Thr I216T not reviewed Insufficiently evaluated not reviewed unknown Array rs45573936 240 10758 0.022309 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GPR116 Pro416Ala P416A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C6ORF142 Val170Ile V170I not reviewed Insufficiently evaluated not reviewed unknown Array rs4712056 6379 10758 0.592954 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - C6ORF142 Ser855Thr S855T not reviewed Insufficiently evaluated not reviewed unknown Array rs6934690 9106 10758 0.84644 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - GFRAL Cys101Gly C101G not reviewed Insufficiently evaluated not reviewed unknown Array 25 10756 0.00232428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KHDRBS2 Tyr314Ser Y314S not reviewed Insufficiently evaluated not reviewed unknown Array rs61753607 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EYS Ser2556Cys S2556C not reviewed Insufficiently evaluated not reviewed unknown Array rs66462731 257 3234 0.0794682 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 1 N - - EYS Arg2326Gln R2326Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4710457 1147 3234 0.354669 3 0 5 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - EYS Glu1199Asp E1199D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - AK302514 Thr720Ala T720A not reviewed Insufficiently evaluated not reviewed unknown Array rs2653988 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK302514 Leu731Pro L731P not reviewed Insufficiently evaluated not reviewed unknown Array rs2653987 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - COL12A1 Arg3028His R3028H not reviewed Insufficiently evaluated not reviewed unknown Array rs41266761 54 9646 0.00559817 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL12A1 Arg1286His R1286H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM26E Leu65Pro L65P not reviewed Insufficiently evaluated not reviewed unknown Array 75 10758 0.00697156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MCM9 Cys177Ser C177S not reviewed Insufficiently evaluated not reviewed unknown Array rs284921 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TCF21 Asp21Glu D21E not reviewed Insufficiently evaluated not reviewed unknown Array rs61729591 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C6ORF97 Arg201His R201H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNDC1 Asp1216Asn D1216N not reviewed Insufficiently evaluated not reviewed unknown Array 99 9726 0.0101789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK296276 Lys139Asn K139N not reviewed Insufficiently evaluated not reviewed unknown Array rs1124951 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK296276 Arg15Leu R15L not reviewed Insufficiently evaluated not reviewed unknown Array rs6937392 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF176 Gly68Val G68V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - USP42 Gly486Arg G486R not reviewed Insufficiently evaluated not reviewed unknown Array 2 9892 0.000202183 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH11 Glu3752Lys E3752K not reviewed Insufficiently evaluated not reviewed unknown Array 19 10180 0.0018664 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - HOXA10 Gly324Arg G324R not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 6 Y 3 N - - HERPUD2 Thr121Ile T121I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM183B Glu165Lys E165K not reviewed Insufficiently evaluated not reviewed unknown Array rs11980087 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_024390 Trp43Stop W43X not reviewed Insufficiently evaluated not reviewed unknown Array rs4723884 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NR_024390 Ala104Pro A104P not reviewed Insufficiently evaluated not reviewed unknown Array rs4723885 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C7ORF10 Asn44Thr N44T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ABCA13 Pro506Leu P506L not reviewed Insufficiently evaluated not reviewed unknown Array rs1880738 3368 9676 0.348078 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCA13 Ile767Ser I767S not reviewed Insufficiently evaluated not reviewed unknown Array rs17712293 1415 9478 0.149293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - ABCA13 Asn2033Asp N2033D not reviewed Insufficiently evaluated not reviewed unknown Array rs17661364 258 9542 0.0270384 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ABCA13 Ala2178Glu A2178E not reviewed Insufficiently evaluated not reviewed unknown Array rs1880736 6555 9428 0.695269 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ABCA13 Arg2674Trp R2674W not reviewed Insufficiently evaluated not reviewed unknown Array rs2222648 7333 9496 0.77222 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - ABCA13 Lys4446Glu K4446E not reviewed Insufficiently evaluated not reviewed unknown Array rs6583448 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - COBL Val293Met V293M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ERV3 Asn566Ser N566S not reviewed Insufficiently evaluated not reviewed unknown Array rs4717229 8911 9704 0.918281 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ERV3 Asn478Ser N478S not reviewed Insufficiently evaluated not reviewed unknown Array rs4618579 7727 8358 0.924503 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ERV3 Thr87Ile T87I not reviewed Insufficiently evaluated not reviewed unknown Array rs6460219 8850 9664 0.91577 41 0 74 1 1 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NM_001161833 Met27Thr M27T not reviewed Insufficiently evaluated not reviewed unknown Array rs1882655 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001161833 Thr58Ala T58A not reviewed Insufficiently evaluated not reviewed unknown Array rs3800822 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TYW1B Met510Thr M510T not reviewed Insufficiently evaluated not reviewed unknown Array rs28535321 1093 3234 0.337972 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - RFC2 Thr214Ala T214A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDH2 Val139Ile V139I not reviewed Insufficiently evaluated not reviewed unknown Array rs111879470 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SRCRB4D Arg462Trp R462W not reviewed Insufficiently evaluated not reviewed unknown Array 34 10754 0.00316161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SEMA3A Lys687Arg K687R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCB4 Thr175Ala T175A not reviewed Insufficiently evaluated not reviewed unknown Array rs58238559 84 10758 0.00780814 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - ABCB1 Ser400Asn S400N not reviewed Insufficiently evaluated not reviewed unknown Array rs2229109 288 10752 0.0267857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001161528 Ile719Leu I719L not reviewed Insufficiently evaluated not reviewed unknown Array rs6465353 1460 3234 0.451453 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - PPP1R9A Asp368Asn D368N not reviewed Insufficiently evaluated not reviewed unknown Array rs61737465 524 10758 0.0487079 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ASNS Leu261Trp L261W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF789 Ser424Pro S424P not reviewed Insufficiently evaluated not reviewed unknown Array rs75593529 70 10758 0.00650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PMPCB Ala3Val A3V not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTTNBP2 Leu1213Val L1213V not reviewed Insufficiently evaluated not reviewed unknown Array rs62617115 282 10758 0.026213 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CADPS2 Ile181Val I181V not reviewed Insufficiently evaluated not reviewed unknown Array rs41281722 5 9622 0.000519642 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRGUK Ala34Thr A34T not reviewed Insufficiently evaluated not reviewed unknown Array rs112091184 51 10758 0.00474066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AKR1B10 Thr192Met T192M not reviewed Insufficiently evaluated not reviewed unknown Array rs28545160 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGBL3 Arg70Cys R70C not reviewed Insufficiently evaluated not reviewed unknown Array rs117732894 25 3234 0.00773036 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AB306208 Ala73Val A73V not reviewed Insufficiently evaluated not reviewed unknown Array rs62001054 9561 9796 0.976011 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NR_001296 Ile103Thr I103T not reviewed Insufficiently evaluated not reviewed unknown Array rs57725689 2713 2856 0.94993 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - NR_001296 Ser181Asn S181N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_001296 Asn182Lys N182K not reviewed Insufficiently evaluated not reviewed unknown Array rs59320698 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - X01410 Lys50Asn K50N not reviewed Insufficiently evaluated not reviewed unknown Array 3079 10108 0.30461 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - X01410 Asn51Lys N51K not reviewed Insufficiently evaluated not reviewed unknown Array 3947 10138 0.389327 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NOS3 Arg98Cys R98C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - WDR86 Gly163Arg G163R not reviewed Insufficiently evaluated not reviewed unknown Array rs61740829 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MLL3 Thr3575Ala T3575A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C7ORF13 Pro132Ser P132S not reviewed Insufficiently evaluated not reviewed unknown Array rs79924697 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSMD1 Thr2552Met T2552M not reviewed Insufficiently evaluated not reviewed unknown Array rs6558702 7278 9980 0.729259 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001080826 Pro244Ser P244S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10050 0.000298507 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PSD3 Arg115Ile R115I not reviewed Insufficiently evaluated not reviewed unknown Array rs118013117 239 9708 0.0246189 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM160B2 Thr315Ala T315A not reviewed Insufficiently evaluated not reviewed unknown Array rs35497596 3956 10092 0.391994 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HR Ala1062Asn A1062N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 4 Y 1 N - - KIAA1967 Asp469Tyr D469Y not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NEFM Gly697Arg G697R not reviewed Insufficiently evaluated not reviewed unknown Array rs59726684 102 10758 0.00948132 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CDCA2 Lys987Thr K987T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTK2B Arg572Trp R572W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADAM3A Arg356Trp R356W not reviewed Insufficiently evaluated not reviewed unknown Array rs10097769 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AP3M2 Met358Gln M358Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HOOK3 Arg271His R271H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRHL2 Lys9Arg K9R not reviewed Insufficiently evaluated not reviewed unknown Array rs3735709 211 10758 0.0196133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RIMS2 Arg897Gln R897Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9586 0.000104318 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENPP2 Gly182Ala G182A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AL137446 Lys238Thr K238T not reviewed Insufficiently evaluated not reviewed unknown Array rs12543080 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AL137446 Glu326Val E326V not reviewed Insufficiently evaluated not reviewed unknown Array rs13278106 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ARHGAP39 Lys624Asn K624N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF252 Thr210Pro T210P not reviewed Insufficiently evaluated not reviewed unknown Array rs12678688 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF252 Cys188Arg C188R not reviewed Insufficiently evaluated not reviewed unknown Array rs2979109 3 0 3 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMED10P1 Phe165Val F165V not reviewed Insufficiently evaluated not reviewed unknown Array rs61740502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KANK1 Arg1124His R1124H not reviewed Insufficiently evaluated not reviewed unknown Array rs114055800 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA2026 His799Tyr H799Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FREM1 Gln1120Leu Q1120L not reviewed Insufficiently evaluated not reviewed unknown Array 6 9896 0.000606305 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FREM1 His1111Tyr H1111Y not reviewed Insufficiently evaluated not reviewed unknown Array 6 9880 0.000607287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ADAMTSL1 Arg1125His R1125H not reviewed Insufficiently evaluated not reviewed unknown Array 81 10242 0.00790861 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IFNA10 Trp164Cys W164C not reviewed Insufficiently evaluated not reviewed unknown Array rs28368148 104 10758 0.00966722 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MTAP Glu207Lys E207K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOPORS His881Gln H881Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41302222 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - NM_001141917 Thr189Met T189M not reviewed Insufficiently evaluated not reviewed unknown Array rs1854574 982 3232 0.303837 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PTAR1 Leu130Phe L130F not reviewed Insufficiently evaluated not reviewed unknown Array 28 9504 0.00294613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTSL3 Ser77Asn S77N not reviewed Insufficiently evaluated not reviewed unknown Array rs7853691 4691 10758 0.436048 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CTSL3 Asn133Lys N133K not reviewed Insufficiently evaluated not reviewed unknown Array rs10735592 7446 10758 0.692136 3 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - WNK2 His758Asn H758N not reviewed Insufficiently evaluated not reviewed unknown Array rs41278262 71 10702 0.00663427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHF2 Thr996ThrThrProAlaSerThr T996TTPAST not reviewed Insufficiently evaluated not reviewed unknown Array rs10992855 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HSD17B3 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - AK303497 Tyr76Ser Y76S not reviewed Insufficiently evaluated not reviewed unknown Array rs2493444 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PTPN3 Asp811Asn D811N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SVEP1 Asn585Ser N585S not reviewed Insufficiently evaluated not reviewed unknown Array 7 9706 0.000721203 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C9ORF43 Leu194Ser L194S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABL1 Gly705Glu G705E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LAMC3 Arg1382Ser R1382S not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CELP Lys177Glu K177E not reviewed Insufficiently evaluated not reviewed unknown Array rs10901232 1 0 1 2 2 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CELP is a transcribed pseudogene; variants are of no consequence. CELP Gln180Stop Q180X not reviewed Insufficiently evaluated not reviewed unknown Array rs10901233 3 0 4 2 2 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CELP is a transcribed pseudogene; variants are of no consequence. CELP Leu184Pro L184P not reviewed Insufficiently evaluated not reviewed unknown Array rs679779 11 0 19 2 2 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CELP is a transcribed pseudogene; variants are of no consequence. KCNT1 Glu848Gly E848G not reviewed Insufficiently evaluated not reviewed unknown Array 23 10328 0.00222696 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CAMSAP1 Pro236Ser P236S not reviewed Insufficiently evaluated not reviewed unknown Array rs77279694 13 3234 0.00401979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK094914 Lys152Asn K152N not reviewed Insufficiently evaluated not reviewed unknown Array rs4842070 3 0 5 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_026964 Gly71Val G71V not reviewed Insufficiently evaluated not reviewed unknown Array rs72775735 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM69B Val39Ile V39I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AF391805 Ser164Gly S164G not reviewed Insufficiently evaluated not reviewed unknown Array rs2853508 3 0 6 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GYG2 Glu428Gln E428Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 8760 0.000570776 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - WWC3 Glu51Lys E51K not reviewed Insufficiently evaluated not reviewed unknown Array rs61748714 61 8761 0.00696268 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAGEB10 Arg270Cys R270C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DCAF8L1 Gly9Ser G9S not reviewed Insufficiently evaluated not reviewed unknown Array 13 8759 0.00148419 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRIA3 Arg394Gln R394Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 8759 0.00148419 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HCFC1 Ala992Thr A992T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RBMY2FP Glu152Lys E152K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP5-5 AlaGlyCysGlyGlyCysGlySerGlyCys53Del AGCGGCGSGC53Del not reviewed Insufficiently evaluated not reviewed unknown Array rs71454096 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLIN4 Gly736Thr G736T not reviewed Insufficiently evaluated not reviewed unknown Array rs73920825 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GYS1 Leu343Pro L343P not reviewed Insufficiently evaluated not reviewed unknown Array rs5464 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - COL7A1 Pro2847Shift P2847Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 0 1 0 0 3 Y - - 0 Y - - 5 - 1 - Y - - - - Y Y 4 Y 4 N 2 0 This frameshift mutation is predicted to cause dystrophic epidermolysis bullosa in a recessive manner. Although there are no known reports of this variant, other disruptive variants in this gene cause this disease. Notably, this variant is nearer to the end than most reports (codon 2,847 out of 2,944 total), this may reduce the severity of its impact on protein function. CEP290 Asp983Shift D983Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 0 1 0 0 3 Y - - 0 Y - - 4 - 1 - Y - - - - Y Y 4 Y 4 N 2 0 Although there are no known reports for this variant, this is predicted to be very disruptive in a gene associated with recessive ciliopathy disorders (mostly Joubert Syndrome and/or Leber's Congenital Amaurosis). This variant would be predicted to have a similarly severe recessive pathogenic effect. PPT1 Met57Shift M57Shift not reviewed High clinical importance, Uncertain not reviewed unknown Array 1 0 1 3 3 3 Y - - 0 Y - - 5 - 1 - Y - - - - Y Y 4 Y 4 N - - Although there are no known reports for this variant, this is predicted to be very disruptive. Other disruptive mutations in this gene cause infantile Neuronal ceroid-lipofuscinosis in a recessive manner, this variant is predicted to have the same effect. EDNRB Tyr293Shift Y293Shift pathogenic Moderate clinical importance, Uncertain pathogenic other Array 1 0 1 1 1 3 Y - - 0 Y - - 4 - 3 - Y - - - - Y Y 4 Y 4 N 1 0 Reported as "EDNRB, 1-BP INS, 878T" in OMIM, this frameshift variant has been reported to cause increased susceptibility to Hirschsprung's disease (partial lack of nerves in the bowel, potentially leading to severe constipation and digestive issues). It may also be associated with Waardenburg syndrome type 4 in a recessive or incomplete-dominance manner. ROBO2 Asp215Shift D215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 1 1 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SNP mutations have been linked to the congenital anomalies of the kidney and urinary tract (CAKUT) and include vesicoureteral reflux (VUR). NEFL Ser472Shift S472Shift benign Low clinical importance, Likely benign unknown Array rs11340767 1 0 1 0 0 - - - - 5 Y 0 - - - - - Y - - - - Y Y 4 Y 4 N 0 1 Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC. SMARCAL1 Pro486Shift P486Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 3 Y - - 0 Y 0 Y 5 Y 3 Y Y - - - - - Y 4 Y 3 N 2 0 No known reports, predicted to be very damaging. Other recessive mutations in this gene cause Schimke Immunoosseous Dysplasia. FANCA Leu798Shift L798Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 3 Y - - 0 Y 0 Y 4 - 0 - Y - - - - Y Y 4 Y 4 N 2 0 No known reports, predicted to be very damaging. Other recessive mutations in this gene cause Fanconi Anemia (complementation group A). CLN6 Pro299Leu P299L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CLN8 Pro299Leu P299L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - CLN5 Pro21Ser P21S not reviewed Insufficiently evaluated not reviewed unknown Array 22 9576 0.00229741 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - BBS2 Arg132Pro R132P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PLEKHG5 Pro976Leu P976L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HSPG2 His509Tyr H509Y not reviewed Insufficiently evaluated not reviewed unknown Array 9 10728 0.000838926 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - FLG Ser3421Asn S3421N not reviewed Insufficiently evaluated not reviewed unknown Array 35 10752 0.00325521 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - USH2A Arg2292His R2292H not reviewed Insufficiently evaluated not reviewed unknown Array rs41277210 229 10758 0.0212865 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - LYST Ile1712Val I1712V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - RYR2 Met3231Thr M3231T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - MYO3A Ile610Val I610V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - PRF1 Pro382Ser P382S not reviewed Insufficiently evaluated not reviewed unknown Array 3 10744 0.000279225 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - RGR Leu77Phe L77F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - ANO5 His841Asp H841D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - F2 Glu200Lys E200K not reviewed Insufficiently evaluated not reviewed unknown Array rs62623459 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - RAPSN Ser274Asn S274N not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATN1 Gly250Ser G250S not reviewed Insufficiently evaluated not reviewed unknown Array 78 10752 0.00725446 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - PFKM Arg696His R696H not reviewed Insufficiently evaluated not reviewed unknown Array rs41291971 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - GNPTAB Thr644Ile T644I not reviewed Insufficiently evaluated not reviewed unknown Array 189 10756 0.0175716 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - MMAB Cys132Arg C132R not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - RNASEH2B Cys7Tyr C7Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TGM1 Arg6Cys R6C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PYGL Ile806Leu I806L not reviewed Insufficiently evaluated not reviewed unknown Array rs34313873 122 10758 0.0113404 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - SPG11 Lys827Arg K827R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - HCN4 Arg624Trp R624W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - POLG Arg597Gln R597Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PKD1 Leu2696Arg L2696R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SLX4 Ala952Val A952V not reviewed Insufficiently evaluated not reviewed unknown Array 505 10758 0.0469418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCC6 His475Leu H475L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COG7 Arg766Gln R766Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CTNS Gly369Ser G369S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GUCY2D Ala479Val A479V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ALDH3A2 Gln10Glu Q10E not reviewed Insufficiently evaluated not reviewed unknown Array rs72547554 44 10584 0.00415722 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - BRCA1 Met1652Ile M1652I not reviewed Insufficiently evaluated not reviewed unknown Array rs1799967 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - GRN Arg433Trp R433W not reviewed Insufficiently evaluated not reviewed unknown Array rs63750412 24 10756 0.00223131 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - PLEKHM1 Ile464Val I464V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - ACE Gly354Arg G354R not reviewed Insufficiently evaluated not reviewed unknown Array rs56394458 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - LOXHD1 Arg246Cys R246C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNFRSF11A Arg568His R568H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10662 0.000281373 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - RANBP2 Ser748Leu S748L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RANBP2 Ser1981Thr S1981T not reviewed Insufficiently evaluated not reviewed unknown Array rs61748150 98 10132 0.00967233 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB11 Val43Ile V43I not reviewed Insufficiently evaluated not reviewed unknown Array 16 9666 0.00165529 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - TTN Glu32483Asp E32483D not reviewed Insufficiently evaluated not reviewed unknown Array rs56308529 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TTN Arg30788Gln R30788Q not reviewed Insufficiently evaluated not reviewed unknown Array rs55742743 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Arg8194Gln R8194Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72648998 436 10040 0.0434263 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - CERKL Glu53Lys E53K not reviewed Insufficiently evaluated not reviewed unknown Array 18 10754 0.0016738 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HSPD1 Glu552Lys E552K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PCK1 Trp76Cys W76C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CHEK2 Arg562Gly R562G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - TRIOBP Arg745Lys R745K not reviewed Insufficiently evaluated not reviewed unknown Array 86 9980 0.00861723 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - XPC Asp472Ala D472A not reviewed Insufficiently evaluated not reviewed unknown Array rs11339194 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - XPC Asp472His D472H not reviewed Insufficiently evaluated not reviewed unknown Array rs55819243 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SLC2A2 Pro68Leu P68L not reviewed Insufficiently evaluated not reviewed unknown Array rs7637863 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - CLDN16 Ala56Pro A56P not reviewed Insufficiently evaluated not reviewed unknown Array rs3214506 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ITGA2 Arg76Gln R76Q not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - MCCC2 Asn403Thr N403T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - VCAN Val720Ala V720A not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - GPR98 Arg249Lys R249K not reviewed Insufficiently evaluated not reviewed unknown Array rs41303344 82 9508 0.00862432 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - GRM6 Arg578Cys R578C not reviewed Insufficiently evaluated not reviewed unknown Array rs62638210 14 10726 0.00130524 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - COL11A2 Arg118Pro R118P not reviewed Insufficiently evaluated not reviewed unknown Array rs41268014 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - GJA1 Ala253Val A253V not reviewed Insufficiently evaluated not reviewed unknown Array rs17653265 127 10758 0.0118052 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ANK1 Asn218Lys N218K not reviewed Insufficiently evaluated not reviewed unknown Array rs61735313 1 0 2 0 0 - - - - - - - - - - - - - - - - - - Y 1 - 2 N - - TMEM70 Ala59Ser A59S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - JAK2 Arg1063His R1063H not reviewed Insufficiently evaluated not reviewed unknown Array rs41316003 40 10756 0.00371885 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - ADAMTS13 Ala732Val A732V not reviewed Insufficiently evaluated not reviewed unknown Array rs41314453 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - RPS6KA3 Arg723His R723H not reviewed Insufficiently evaluated not reviewed unknown Array 9 8761 0.00102728 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ATRX Lys1176Met K1176M not reviewed Insufficiently evaluated not reviewed unknown Array 1 8756 0.000114207 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - OPN1LW Ala174Val A174V not reviewed Insufficiently evaluated not reviewed unknown Array rs72616470 1066 8445 0.126229 1 0 2 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 2 N - - SAMD11 Arg68Gln R68Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10732 0.000465896 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCNN1D Val518Met V518M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATAD3C Arg33Gln R33Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEGF6 Phe854Leu F854L not reviewed Insufficiently evaluated not reviewed unknown Array rs41303857 22 10006 0.00219868 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PER3 His984Tyr H984Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PER3 Ala1007Thr A1007T not reviewed Insufficiently evaluated not reviewed unknown Array rs1776342 1 10010 9.99e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTCHD2 Arg542His R542H not reviewed Insufficiently evaluated not reviewed unknown Array rs41274532 37 10532 0.0035131 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPPB Val94Phe V94F not reviewed Insufficiently evaluated not reviewed unknown Array rs35640285 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRAMEF18 Gly324Ala G324A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRAMEF18 Lys223Arg K223R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AX747988 Arg6Pro R6P not reviewed Insufficiently evaluated not reviewed unknown Array rs1759227 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AX747988 Asn75Asp N75D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MFAP2 Ala174Gly A174G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PADI2 Arg233Gln R233Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61749340 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRHL3 Pro485His P485H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC104455 Arg117Gln R117Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1522 Arg492His R492H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10286 0.00204161 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZMYM4 His1103Arg H1103R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CSF3R Glu405Lys E405K not reviewed Insufficiently evaluated not reviewed unknown Array rs3918019 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZSWIM5 Arg265Cys R265C not reviewed Insufficiently evaluated not reviewed unknown Array 39 9916 0.00393304 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLIS1 Gly50Ser G50S not reviewed Insufficiently evaluated not reviewed unknown Array 92 10730 0.00857409 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ELTD1 Ser187Pro S187P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EVI5 Arg651Lys R651K not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC18 Arg1011Gln R1011Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9590 0.000104275 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VAV3 Arg379His R379H not reviewed Insufficiently evaluated not reviewed unknown Array rs35313815 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORT1 Glu444Gln E444Q not reviewed Insufficiently evaluated not reviewed unknown Array rs72646568 136 10758 0.0126418 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AMPD2 Met255Thr M255T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD101 Arg518Gln R518Q not reviewed Insufficiently evaluated not reviewed unknown Array rs17235766 174 10758 0.016174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGR1B Met171Ile M171I not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PPIAL4G Ala101Val A101V not reviewed Insufficiently evaluated not reviewed unknown Array rs2490183 2051 6858 0.299067 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - PDE4DIP Lys1028Arg K1028R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NBPF16 Gly593Ser G593S not reviewed Insufficiently evaluated not reviewed unknown Array 127 8140 0.015602 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NBPF16 Val646Leu V646L not reviewed Insufficiently evaluated not reviewed unknown Array 360 1908 0.188679 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ADAMTSL4 Ala969Asp A969D not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 5 Y 1 N - - HRNR Thr2492Ala T2492A not reviewed Insufficiently evaluated not reviewed unknown Array 173 768 0.22526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HRNR Arg648Ser R648S not reviewed Insufficiently evaluated not reviewed unknown Array rs61814943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HRNR Gln593Leu Q593L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR Gln587Arg Q587R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LCE4A Ser43Cys S43C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SHE Lys40Gln K40Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DCST2 Arg157Trp R157W not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCGR3B Ala78Asp A78D not reviewed Insufficiently evaluated not reviewed unknown Array rs5030738 847 10694 0.0792033 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - SELL Glu109Lys E109K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD45 Glu212Lys E212K not reviewed Insufficiently evaluated not reviewed unknown Array rs34387166 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TNR Asn180His N180H not reviewed Insufficiently evaluated not reviewed unknown Array rs61731112 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TOR1AIP2 Gly128Asp G128D not reviewed Insufficiently evaluated not reviewed unknown Array 19 9446 0.00201143 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NMNAT2 Ile113Val I113V not reviewed Insufficiently evaluated not reviewed unknown Array rs41314643 133 10758 0.0123629 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PPFIA4 Arg615Gln R615Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTSE Val345Met V345M not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SRGAP2 Arg21Trp R21W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FCAMR Leu348Ile L348I not reviewed Insufficiently evaluated not reviewed unknown Array rs61729352 103 3234 0.0318491 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK026321 Val34Ala V34A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR2T33 Met197Arg M197R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR14C36 Gly203Ala G203A not reviewed Insufficiently evaluated not reviewed unknown Array rs62621369 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2T3 Cys132Tyr C132Y not reviewed Insufficiently evaluated not reviewed unknown Array 1653 10718 0.154227 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - OR2T3 Phe183Ser F183S not reviewed Insufficiently evaluated not reviewed unknown Array 47 10620 0.00442561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2T3 His239Arg H239R not reviewed Insufficiently evaluated not reviewed unknown Array rs1770108 28 10738 0.00260756 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2T5 Val96Ile V96I not reviewed Insufficiently evaluated not reviewed unknown Array 358 9476 0.0377797 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - OR2T34 Met277Val M277V not reviewed Insufficiently evaluated not reviewed unknown Array 1888 10400 0.181538 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - OR2T34 Leu256Phe L256F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C10ORF108 Val27Met V27M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADARB2 Val643Met V643M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKR1E2 Leu186Trp L186W not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MCM10 Ala418Val A418V not reviewed Insufficiently evaluated not reviewed unknown Array rs35114749 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AGAP4 Ser363Ile S363I not reviewed Insufficiently evaluated not reviewed unknown Array 24 544 0.0441176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AF130068 Ser347Gly S347G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRMPD2 Gly912Glu G912E not reviewed Insufficiently evaluated not reviewed unknown Array 55 424 0.129717 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - AGAP7 Thr488Asn T488N not reviewed Insufficiently evaluated not reviewed unknown Array 210 10258 0.0204718 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AGAP7 Tyr302Asn Y302N not reviewed Insufficiently evaluated not reviewed unknown Array 10419 10596 0.983296 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - AGAP6 Arg37Gly R37G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AGAP6 Arg70Gln R70Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61848260 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM26 Ile165Thr I165T not reviewed Insufficiently evaluated not reviewed unknown Array 1 9728 0.000102796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NPFFR1 Ser385Leu S385L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIAA1274 Val199Ile V199I not reviewed Insufficiently evaluated not reviewed unknown Array rs61737673 247 10758 0.0229597 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ASCC1 Asn290Ser N290S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP54 Arg642Trp R642W not reviewed Insufficiently evaluated not reviewed unknown Array 20 9856 0.00202922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DLG5 Asn332Ser N332S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM22D Pro488Leu P488L not reviewed Insufficiently evaluated not reviewed unknown Array 1689 8288 0.203789 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM22D Leu491Gln L491Q not reviewed Insufficiently evaluated not reviewed unknown Array 2078 8698 0.238905 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GPR120 Arg270His R270H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF137 Met289Ile M289I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR123 Ala442Val A442V not reviewed Insufficiently evaluated not reviewed unknown Array rs41283455 206 7804 0.0263967 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRG2B Thr109Arg T109R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FRG2B Met100Ile M100I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FRG2B Thr30Ser T30S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RIC8A Asp76Asn D76N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC2 Pro1839Leu P1839L not reviewed Insufficiently evaluated not reviewed unknown Array rs72655333 44 10394 0.00423321 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OSBPL5 Ile701Phe I701F not reviewed Insufficiently evaluated not reviewed unknown Array 4 10696 0.000373971 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - OR52N4 Tyr319Cys Y319C not reviewed Insufficiently evaluated not reviewed unknown Array 37 9718 0.00380737 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GVINP1 Phe333Tyr F333Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - COPB1 Ile479Asn I479N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC136797 Trp429Leu W429L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OTOG Thr1187Pro T1187P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NAV2 Asn2052Ser N2052S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCP11L1 Ser456Leu S456L not reviewed Insufficiently evaluated not reviewed unknown Array 180 10758 0.0167317 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FJX1 Pro316Arg P316R not reviewed Insufficiently evaluated not reviewed unknown Array 15 10072 0.00148928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPRYD5 Cys223Arg C223R not reviewed Insufficiently evaluated not reviewed unknown Array rs34250328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNKS1BP1 Leu450Pro L450P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR9Q1 Gly252Cys G252C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TCN1 Val309Ile V309I not reviewed Insufficiently evaluated not reviewed unknown Array rs72550758 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RELT Gly400Arg G400R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10728 0.000186428 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KLHL35 Gln338Arg Q338R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10428 0.000287686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCF11 Ser1520Gly S1520G not reviewed Insufficiently evaluated not reviewed unknown Array 223 9732 0.0229141 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AB231705 Val90Ala V90A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BCL9L Asn651Ser N651S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4D5 Thr57Pro T57P not reviewed Insufficiently evaluated not reviewed unknown Array 162 10758 0.0150586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OR10G9 Ala98Gly A98G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FBXL14 Asp305His D305H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DDX11 Arg63His R63H not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DDX11 Val132Ala V132A not reviewed Insufficiently evaluated not reviewed unknown Array rs2432993 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAS2R31 Met132Val M132V not reviewed Insufficiently evaluated not reviewed unknown Array 888 10322 0.0860298 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R31 Asp45His D45H not reviewed Insufficiently evaluated not reviewed unknown Array 42 10152 0.00413712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TAS2R43 Met132Val M132V not reviewed Insufficiently evaluated not reviewed unknown Array 1476 9780 0.15092 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - TAS2R43 His120Arg H120R not reviewed Insufficiently evaluated not reviewed unknown Array 1353 9466 0.142933 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - TAS2R43 Thr101Ser T101S not reviewed Insufficiently evaluated not reviewed unknown Array 389 8834 0.0440344 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TAS2R43 Asn76Tyr N76Y not reviewed Insufficiently evaluated not reviewed unknown Array 1176 9474 0.124129 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - TAS2R43 Phe36Leu F36L not reviewed Insufficiently evaluated not reviewed unknown Array 425 9354 0.0454351 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRB3 Arg158His R158H not reviewed Insufficiently evaluated not reviewed unknown Array rs71455360 21 6798 0.00308914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PRB2 Pro253Ser P253S not reviewed Insufficiently evaluated not reviewed unknown Array rs10845349 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRB2 Lys252Arg K252R not reviewed Insufficiently evaluated not reviewed unknown Array rs11054276 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PRB2 Pro247Gln P247Q not reviewed Insufficiently evaluated not reviewed unknown Array rs11054277 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ITPR2 Arg1180Gln R1180Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35862420 58 9544 0.00607712 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001080502 Cys1240Trp C1240W not reviewed Insufficiently evaluated not reviewed unknown Array rs67150805 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001080502 Cys1240Phe C1240F not reviewed Insufficiently evaluated not reviewed unknown Array rs7315923 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - METTL7B Val119Met V119M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAZ2A Arg1443Gln R1443Q not reviewed Insufficiently evaluated not reviewed unknown Array 47 10382 0.00452707 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAC3 Asn281Ser N281S not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - R3HDM2 Arg948His R948H not reviewed Insufficiently evaluated not reviewed unknown Array 321 10758 0.0298383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GLI1 Arg510Trp R510W not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ARHGAP9 Arg620Trp R620W not reviewed Insufficiently evaluated not reviewed unknown Array rs61758883 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MARS Arg727Gln R727Q not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OSBPL8 Gly534Val G534V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LRRIQ1 Ile1074Met I1074M not reviewed Insufficiently evaluated not reviewed unknown Array 30 10740 0.0027933 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TCP11L2 Asp261Asn D261N not reviewed Insufficiently evaluated not reviewed unknown Array rs17218950 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TPCN1 Ser289Phe S289F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WSB2 Thr326Ser T326S not reviewed Insufficiently evaluated not reviewed unknown Array 59 10758 0.00548429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZCCHC8 Met663Val M663V not reviewed Insufficiently evaluated not reviewed unknown Array 73 9714 0.00751493 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C13ORF23 Ala916Ser A916S not reviewed Insufficiently evaluated not reviewed unknown Array rs73169461 89 10758 0.00827291 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NEK3 Arg122His R122H not reviewed Insufficiently evaluated not reviewed unknown Array rs56190615 45 9594 0.00469043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLITRK5 Gly59Ser G59S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UGGT2 Phe1274Leu F1274L not reviewed Insufficiently evaluated not reviewed unknown Array rs9525072 82 10734 0.00763928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ866763 Leu152Phe L152F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ866763 Phe139Leu F139L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ866763 Thr134Met T134M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DQ866763 Leu118Phe L118F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DQ866763 Ser109Asn S109N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR11H12 Ser90Phe S90F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR11H12 Val240Gly V240G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - POTEH Leu379Ser L379S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - POTEH Ile365Met I365M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POTEH Ser7Leu S7L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR11H4 Ala77Pro A77P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC153822 Leu6Pro L6P not reviewed Insufficiently evaluated not reviewed unknown Array rs12880395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC16B Arg1008Cys R1008C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADCY4 Ala50Val A50V not reviewed Insufficiently evaluated not reviewed unknown Array 144 10108 0.0142461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR5A Met560Thr M560T not reviewed Insufficiently evaluated not reviewed unknown Array rs61754287 183 9650 0.0189637 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGAP5 Ile17Val I17V not reviewed Insufficiently evaluated not reviewed unknown Array rs17386818 97 10758 0.00901654 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - INSM2 Gly515Val G515V not reviewed Insufficiently evaluated not reviewed unknown Array 129 10736 0.0120156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ARID4A Pro467Leu P467L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - HIF1A Val50Leu V50L not reviewed Insufficiently evaluated not reviewed unknown Array rs61755705 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR4 Ala588Thr A588T not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ACOT2 Met455Val M455V not reviewed Insufficiently evaluated not reviewed unknown Array 3 8658 0.0003465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF156 Ala10Val A10V not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNK13 Val319Ile V319I not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GSC Cys157Trp C157W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK7 Ala452Ser A452S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TECPR2 Pro601Leu P601L not reviewed Insufficiently evaluated not reviewed unknown Array 181 10758 0.0168247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AHNAK2 Arg1162Lys R1162K not reviewed Insufficiently evaluated not reviewed unknown Array 36 9894 0.00363857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - AHNAK2 Arg51Trp R51W not reviewed Insufficiently evaluated not reviewed unknown Array 372 9892 0.0376061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - X58402 Lys38Arg K38R not reviewed Insufficiently evaluated not reviewed unknown Array rs72686844 1750 9866 0.177377 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 0 N - - GOLGA8E Glu225Asp E225D not reviewed Insufficiently evaluated not reviewed unknown Array 23 7456 0.00308476 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GOLGA8E Gly385Val G385V not reviewed Insufficiently evaluated not reviewed unknown Array 6347 7776 0.816229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 0 N - - GOLGA8E Lys205Asn K205N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747926 Arg88Cys R88C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HERC2 Gln11Arg Q11R not reviewed Insufficiently evaluated not reviewed unknown Array 1214 5262 0.230711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - HERC2 Phe6Leu F6L not reviewed Insufficiently evaluated not reviewed unknown Array 1307 5300 0.246604 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CLPX Gly250Ser G250S not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADPGK Ala8Val A8V not reviewed Insufficiently evaluated not reviewed unknown Array 22 6622 0.00332226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CSPG4 Arg365Gln R365Q not reviewed Insufficiently evaluated not reviewed unknown Array 84 10520 0.00798479 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS7 Arg226Gln R226Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61752773 142 10714 0.0132537 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ACAN Thr1283Ala T1283A not reviewed Insufficiently evaluated not reviewed unknown Array rs12899191 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIF7 Ile202Val I202V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF710 Asp441His D441H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CR601154 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR601154 Gln191Lys Q191K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC78 Pro413Thr P413T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10744 9.3075e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CACNA1H Ala2108Thr A2108T not reviewed Insufficiently evaluated not reviewed unknown Array rs56930660 11 8796 0.00125057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF598 Pro640Leu P640L not reviewed Insufficiently evaluated not reviewed unknown Array 44 9402 0.00467985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FLYWCH1 Val560Ile V560I not reviewed Insufficiently evaluated not reviewed unknown Array 25 9712 0.00257414 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HSP90B2P Tyr444Asn Y444N not reviewed Insufficiently evaluated not reviewed unknown Array rs61756351 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HSP90B2P Asp272Gly D272G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HSP90B2P Arg13Cys R13C not reviewed Insufficiently evaluated not reviewed unknown Array rs737260 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C16ORF89 Ala364Asp A364D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ERCC4 Pro379Ser P379S not reviewed Insufficiently evaluated not reviewed unknown Array rs1799802 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - NPIP Arg697Lys R697K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC146422 Arg132Cys R132C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AK310228 Asp59Asn D59N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK310228 Arg309Cys R309C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DNAH3 Lys3888Arg K3888R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ZNF785 Glu42Lys E42K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARMC5 Phe14Tyr F14Y not reviewed Insufficiently evaluated not reviewed unknown Array 412 10004 0.0411835 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SHCBP1 Ser54Cys S54C not reviewed Insufficiently evaluated not reviewed unknown Array 84 10756 0.00780959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXL8 Leu211Arg L211R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NOL3 Asp13His D13H not reviewed Insufficiently evaluated not reviewed unknown Array rs2233457 107 9670 0.0110651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TSNAXIP1 Val630Met V630M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NPIPL2 Arg162His R162H not reviewed Insufficiently evaluated not reviewed unknown Array rs7189061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NPIPL2 Ala177Thr A177T not reviewed Insufficiently evaluated not reviewed unknown Array rs6564065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CLEC18B Leu100Pro L100P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NECAB2 Arg274His R274H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0513 Asp13Asn D13N not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZC3H18 Ala41Val A41V not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC014971 Ala19Thr A19T not reviewed Insufficiently evaluated not reviewed unknown Array rs62052673 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC139719 Arg46His R46H not reviewed Insufficiently evaluated not reviewed unknown Array rs62052673 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM101B Val34Glu V34E not reviewed Insufficiently evaluated not reviewed unknown Array 26 9460 0.00274841 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SMYD4 Thr176Ala T176A not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SHPK Arg470Trp R470W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MINK1 Ile622Leu I622L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXO39 Arg113Gln R113Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEIS3P1 Glu248Asp E248D not reviewed Insufficiently evaluated not reviewed unknown Array rs533242 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CCDC144A Pro1391Gln P1391Q not reviewed Insufficiently evaluated not reviewed unknown Array 111 9036 0.0122842 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ULK2 Asp500Ala D500A not reviewed Insufficiently evaluated not reviewed unknown Array 40 10758 0.00371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CCDC144NL Pro189Leu P189L not reviewed Insufficiently evaluated not reviewed unknown Array 310 10748 0.0288426 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DHRS7B Asp252Val D252V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CRYBA1 Gly159Ser G159S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUFIP2 Thr392Ala T392A not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UTP6 Leu134Val L134V not reviewed Insufficiently evaluated not reviewed unknown Array rs34859443 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCL4 Thr54Pro T54P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TBC1D3F Pro358Gln P358Q not reviewed Insufficiently evaluated not reviewed unknown Array 622 3782 0.164463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - CWC25 Arg372Trp R372W not reviewed Insufficiently evaluated not reviewed unknown Array 117 10076 0.0116118 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC041481 Arg708Ser R708S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SP6 Ala195Asp A195D not reviewed Insufficiently evaluated not reviewed unknown Array 16 9506 0.00168315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDK5RAP3 Glu50Gln E50Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LPO Ala26Val A26V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SKA2 Leu121Val L121V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRRC37A3 Val449Ile V449I not reviewed Insufficiently evaluated not reviewed unknown Array 426 476 0.894958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - LRRC37A3 His435Gln H435Q not reviewed Insufficiently evaluated not reviewed unknown Array 984 1106 0.889693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - LRRC37A3 Pro312Ala P312A not reviewed Insufficiently evaluated not reviewed unknown Array 201 1276 0.157524 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABCA10 Gln1094Glu Q1094E not reviewed Insufficiently evaluated not reviewed unknown Array 35 10756 0.003254 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBF1 Arg756Cys R756C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SEC14L1 Asp454His D454H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RNF213 Val3021Met V3021M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TXNDC2 Leu232Ile L232I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TXNDC2 Val434Met V434M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001029999 Gly30Asp G30D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001029999 Asn40Ser N40S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001029999 Pro55Leu P55L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX747360 Val2Ala V2A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001029999 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX747360 Thr11Met T11M not reviewed Insufficiently evaluated not reviewed unknown Array rs4101175 5 10744 0.000465376 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001029999 Gly85Arg G85R not reviewed Insufficiently evaluated not reviewed unknown Array rs62085008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747360 Ala24Thr A24T not reviewed Insufficiently evaluated not reviewed unknown Array rs4101176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001029999 Ser97Asn S97N not reviewed Insufficiently evaluated not reviewed unknown Array rs4101176 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX747360 Phe32Ile F32I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001029999 Leu105His L105H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747360 Cys57Tyr C57Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747360 Thr85Ser T85S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AX747360 Pro91Ala P91A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX747360 Cys101Tyr C101Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX747360 Cys109Gly C109G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CABLES1 Leu225Phe L225F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MOCOS Met73Thr M73T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDH7 Leu86Val L86V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF407 Glu2003Lys E2003K not reviewed Insufficiently evaluated not reviewed unknown Array 32 10360 0.0030888 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR4F17 Leu61Phe L61F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2CD4C Thr295Met T295M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BSG Val26Phe V26F not reviewed Insufficiently evaluated not reviewed unknown Array 55 10030 0.00548355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCSK4 Asn629Ser N629S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCSK4 Arg330His R330H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - REXO1 Gly470Arg G470R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TJP3 Val143Gly V143G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SH3GL1 Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Met771Val M771V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10428 0.0021097 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL442075 Ala48Pro A48P not reviewed Insufficiently evaluated not reviewed unknown Array rs73500088 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PIN1 Ser71Leu S71L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ATG4D Arg424Trp R424W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRI1 Glu185Ala E185A not reviewed Insufficiently evaluated not reviewed unknown Array rs11545166 268 10758 0.0249117 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PKN1 Arg641Gln R641Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35416389 289 9788 0.029526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PGLYRP2 Ala366Thr A366T not reviewed Insufficiently evaluated not reviewed unknown Array rs35662083 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANO8 Arg626Gln R626Q not reviewed Insufficiently evaluated not reviewed unknown Array 775 10278 0.0754038 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF98 Lys407Glu K407E not reviewed Insufficiently evaluated not reviewed unknown Array 4338 7644 0.567504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ZNF98 Cys380Tyr C380Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLEKHF1 Ser187Trp S187W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AX746638 Gln96His Q96H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RASGRP4 Gly165Arg G165R not reviewed Insufficiently evaluated not reviewed unknown Array rs41465445 424 10224 0.041471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TIMM50 Pro369Thr P369T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FCGBP Pro4107Leu P4107L not reviewed Insufficiently evaluated not reviewed unknown Array 1777 6230 0.285233 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FCGBP Asp3847Glu D3847E not reviewed Insufficiently evaluated not reviewed unknown Array 198 8826 0.0224337 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FCGBP Ser3384Thr S3384T not reviewed Insufficiently evaluated not reviewed unknown Array 340 5496 0.0618632 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - FCGBP Gly2670Arg G2670R not reviewed Insufficiently evaluated not reviewed unknown Array 831 10686 0.0777653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FCGBP Pro1705Leu P1705L not reviewed Insufficiently evaluated not reviewed unknown Array 414 5008 0.0826677 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FCGBP Met1617Val M1617V not reviewed Insufficiently evaluated not reviewed unknown Array rs7249743 449 10742 0.0417985 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGBP Gly1616Val G1616V not reviewed Insufficiently evaluated not reviewed unknown Array rs7248839 425 10734 0.0395938 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ADCK4 Ala276Pro A276P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CD177 Ala266Thr A266T not reviewed Insufficiently evaluated not reviewed unknown Array 2136 2808 0.760684 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BC034980 Tyr444Asn Y444N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF284 Ser124Thr S124T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NKPD1 Ala461Glu A461E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KLC3 Val24Met V24M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRR12 Cys1558Tyr C1558Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SCAF1 Ala1015Asp A1015D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIGLEC6 Asp98Tyr D98Y not reviewed Insufficiently evaluated not reviewed unknown Array rs62617068 90 10718 0.00839709 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZNF808 Glu61Gln E61Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 10754 0.000743909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF320 Arg371His R371H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CNOT3 Asn69Ser N69S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTYH1 Glu444Gln E444Q not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NLRP4 Glu383Asp E383D not reviewed Insufficiently evaluated not reviewed unknown Array rs17857373 491 10758 0.0456405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF471 Gln309Arg Q309R not reviewed Insufficiently evaluated not reviewed unknown Array rs45487092 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2ORF90 Asp168Glu D168E not reviewed Insufficiently evaluated not reviewed unknown Array rs62103942 325 9612 0.0338119 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C2ORF90 His104Gln H104Q not reviewed Insufficiently evaluated not reviewed unknown Array rs71337692 233 9356 0.0249038 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C2ORF90 Asp87His D87H not reviewed Insufficiently evaluated not reviewed unknown Array rs13395348 6385 8034 0.794747 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - C2ORF90 Asp70Glu D70E not reviewed Insufficiently evaluated not reviewed unknown Array 3075 9302 0.330574 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - CENPO Val257Leu V257L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SUPT7L Leu111Val L111V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FOSL2 Pro6Ser P6S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10748 0.000186081 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - QPCT Phe325Val F325V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF86 Ala445Pro A445P not reviewed Insufficiently evaluated not reviewed unknown Array rs61734466 68 9804 0.00693594 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEP68 Phe367Tyr F367Y not reviewed Insufficiently evaluated not reviewed unknown Array 155 10758 0.0144079 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ARHGAP25 Glu253Lys E253K not reviewed Insufficiently evaluated not reviewed unknown Array rs61758703 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAT8B Val126Ile V126I not reviewed Insufficiently evaluated not reviewed unknown Array 52 10758 0.00483361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD23 Phe62Cys F62C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAHD2B Val52Ile V52I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAHD2B Gly50Arg G50R not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC146835 Trp229Cys W229C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD36B Arg1104Trp R1104W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD36B Gly878Arg G878R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD36B Cys842Trp C842W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANKRD36B Arg818Leu R818L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ANKRD36B Lys735Arg K735R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ANKRD36B Arg726Trp R726W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AFF3 Ala636Thr A636T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MFSD9 Trp220Arg W220R not reviewed Insufficiently evaluated not reviewed unknown Array 191 10758 0.0177542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGPD4 Val615Leu V615L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RGPD4 Trp833Arg W833R not reviewed Insufficiently evaluated not reviewed unknown Array rs832352 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RGPD6 Arg464His R464H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM87B Ile407Thr I407T not reviewed Insufficiently evaluated not reviewed unknown Array 4 10752 0.000372023 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RGPD5 Pro1760Ala P1760A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - RGPD5 Gly1570Arg G1570R not reviewed Insufficiently evaluated not reviewed unknown Array 87 110 0.790909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RGPD5 Asp7Glu D7E not reviewed Insufficiently evaluated not reviewed unknown Array rs13021601 428 3214 0.133167 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - POTEF Arg954Trp R954W not reviewed Insufficiently evaluated not reviewed unknown Array 1167 3706 0.314895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - CCDC74B Leu296Phe L296F not reviewed Insufficiently evaluated not reviewed unknown Array 50 10756 0.00464857 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - POTEE Gly973Asp G973D not reviewed Insufficiently evaluated not reviewed unknown Array 128 2366 0.0540997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - LRP2 Gly4417Asp G4417D not reviewed Insufficiently evaluated not reviewed unknown Array rs41268685 138 10758 0.0128277 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - LRP2 Pro1151Leu P1151L not reviewed Insufficiently evaluated not reviewed unknown Array 147 10758 0.0136642 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 7 Y 2 N - - MYO3B Glu337Lys E337K not reviewed Insufficiently evaluated not reviewed unknown Array 1 9732 0.000102753 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STK36 Met314Ile M314I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SNED1 Val998Met V998M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10216 0.000391542 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADRA1D Gly525Ala G525A not reviewed Insufficiently evaluated not reviewed unknown Array 16 10622 0.00150631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C20ORF191 Val102Ala V102A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C20ORF191 Glu82Lys E82K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C20ORF191 Ser63Leu S63L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C20ORF191 Tyr20Ser Y20S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CDK5RAP1 Glu494Val E494V not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AX746683 Ser36Arg S36R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C20ORF118 Glu98Asp E98D not reviewed Insufficiently evaluated not reviewed unknown Array 38 10758 0.00353226 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C20ORF118 Ser187Arg S187R not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PPP1R3D Arg174Gln R174Q not reviewed Insufficiently evaluated not reviewed unknown Array 5 10378 0.000481788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC17A9 Val245Ile V245I not reviewed Insufficiently evaluated not reviewed unknown Array 111 10472 0.0105997 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SRMS Ser465Thr S465T not reviewed Insufficiently evaluated not reviewed unknown Array rs33933649 227 10756 0.0211045 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001037335 Arg1988Leu R1988L not reviewed Insufficiently evaluated not reviewed unknown Array 78 10546 0.00739617 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RTEL1 Asn124Ser N124S not reviewed Insufficiently evaluated not reviewed unknown Array rs3848668 653 10758 0.060699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - POTED Asp264Tyr D264Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POTED Arg451Lys R451K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C21ORF34 Arg67Gln R67Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS5 Gly4Arg G4R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BRWD1 Leu1869Val L1869V not reviewed Insufficiently evaluated not reviewed unknown Array 14 10756 0.0013016 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HMGN1 Ser152Leu S152L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NDUFV3 Glu403Lys E403K not reviewed Insufficiently evaluated not reviewed unknown Array rs61746238 133 10758 0.0123629 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MICAL3 Asp852Val D852V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC112340 Trp5Cys W5C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BC112340 Val285Ala V285A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC112340 Lys320Arg K320R not reviewed Insufficiently evaluated not reviewed unknown Array 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BC112340 Val360Ala V360A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AX748067 Val76Ile V76I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RIMBP3B Val1558Met V1558M not reviewed Insufficiently evaluated not reviewed unknown Array 161 1398 0.115165 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MYO18B Arg2383Trp R2383W not reviewed Insufficiently evaluated not reviewed unknown Array 38 10024 0.0037909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OSBP2 Leu137Phe L137F not reviewed Insufficiently evaluated not reviewed unknown Array 74 10000 0.0074 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C22ORF30 Lys1625Ile K1625I not reviewed Insufficiently evaluated not reviewed unknown Array 4 3234 0.00123686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RFPL3 Ser195Gly S195G not reviewed Insufficiently evaluated not reviewed unknown Array rs61729167 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CYP2D6 Arg329Leu R329L not reviewed Insufficiently evaluated not reviewed unknown Array rs3915951 219 10752 0.0203683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GTSE1 Ala605Gly A605G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CPNE9 Arg45Gln R45Q not reviewed Insufficiently evaluated not reviewed unknown Array 12 9754 0.00123026 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CAND2 Ser32Leu S32L not reviewed Insufficiently evaluated not reviewed unknown Array rs62620196 66 10752 0.00613839 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GADL1 Arg310His R310H not reviewed Insufficiently evaluated not reviewed unknown Array rs62636628 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRANK1 Gln147Arg Q147R not reviewed Insufficiently evaluated not reviewed unknown Array rs61732326 184 9940 0.0185111 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SCN11A Gly1428Ser G1428S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCRL2 Gly98Glu G98E not reviewed Insufficiently evaluated not reviewed unknown Array 107 10058 0.0106383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCDC12 Lys128Stop K128X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PTPN23 Val843Met V843M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10750 0.000372093 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HYAL3 Arg227Cys R227C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CACNA2D2 Gln1012Arg Q1012R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DOCK3 Val150Ile V150I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PDZRN3 Gly674Cys G674C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FRG2C Asp9Asn D9N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FRG2C Asp252Glu D252E not reviewed Insufficiently evaluated not reviewed unknown Array rs2118760 616 618 0.996764 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ROBO1 Glu248Lys E248K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPICE1 Tyr103His Y103H not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POGLUT1 Trp140Cys W140C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FBXO40 Glu123Lys E123K not reviewed Insufficiently evaluated not reviewed unknown Array rs34751480 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R3A Gly1035Ser G1035S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CPA3 Arg273Pro R273P not reviewed Insufficiently evaluated not reviewed unknown Array 85 10758 0.0079011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - P2RY14 Leu39Val L39V not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MED12L Met1558Val M1558V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC001200 His467Tyr H467Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AK057553 Val195Glu V195E not reviewed Insufficiently evaluated not reviewed unknown Array rs6583274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC4 Asn2645Ser N2645S not reviewed Insufficiently evaluated not reviewed unknown Array 17 3150 0.00539682 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Gly2172Ser G2172S not reviewed Insufficiently evaluated not reviewed unknown Array 117 3056 0.0382853 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Pro1570Thr P1570T not reviewed Insufficiently evaluated not reviewed unknown Array rs59668135 540 3208 0.168329 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MUC4 Pro1218Leu P1218L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MFI2 Val224Met V224M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ATP5I Leu10Phe L10F not reviewed Insufficiently evaluated not reviewed unknown Array 129 10754 0.0119955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CRIPAK Pro173Arg P173R not reviewed Insufficiently evaluated not reviewed unknown Array rs71299249 228 10554 0.0216032 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABLIM2 Pro295Leu P295L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF23 Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array rs61737659 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR78 Ala263Val A263V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001040071 Thr43Met T43M not reviewed Insufficiently evaluated not reviewed unknown Array rs2865025 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WDR1 Val61Ala V61A not reviewed Insufficiently evaluated not reviewed unknown Array 29 10344 0.00280356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGFBP2 Arg60His R60H not reviewed Insufficiently evaluated not reviewed unknown Array rs62617788 252 10758 0.0234244 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CEP135 Ile241Arg I241R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - REST Pro736Ser P736S not reviewed Insufficiently evaluated not reviewed unknown Array rs61754065 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SHROOM3 Val1053Leu V1053L not reviewed Insufficiently evaluated not reviewed unknown Array rs71607374 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FRAS1 Ile3904Thr I3904T not reviewed Insufficiently evaluated not reviewed unknown Array rs61748814 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - RASGEF1B Val418Ala V418A not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HERC5 Leu1013Pro L1013P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM13A Ile427Val I427V not reviewed Insufficiently evaluated not reviewed unknown Array 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAT4 Ser2691Leu S2691L not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUBB4Q Arg275Gln R275Q not reviewed Insufficiently evaluated not reviewed unknown Array rs4277824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TUBB4Q Thr112Met T112M not reviewed Insufficiently evaluated not reviewed unknown Array rs9995127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AHRR Ala586Val A586V not reviewed Insufficiently evaluated not reviewed unknown Array rs61757546 41 10472 0.0039152 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GUSBP1 Arg169Trp R169W not reviewed Insufficiently evaluated not reviewed unknown Array rs10447150 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BRIX1 Gly249Glu G249E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK126213 Val105Ile V105I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HEATR7B2 Arg1556His R1556H not reviewed Insufficiently evaluated not reviewed unknown Array 9 9918 0.000907441 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ESM1 Val166Ala V166A not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HTR1A Ile28Val I28V not reviewed Insufficiently evaluated not reviewed unknown Array rs1799921 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CENPH Gln52His Q52H not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - U21555 Arg197Trp R197W not reviewed Insufficiently evaluated not reviewed unknown Array rs71266710 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BDP1 Ala552Gly A552G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC25A46 Phe183Leu F183L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TSLP Thr46Ile T46I not reviewed Insufficiently evaluated not reviewed unknown Array 5 10756 0.000464856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZRSR1 Arg245Trp R245W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TRIM36 Lys428Arg K428R not reviewed Insufficiently evaluated not reviewed unknown Array 95 10756 0.00883228 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NM_173800 Val640Phe V640F not reviewed Insufficiently evaluated not reviewed unknown Array rs17138632 248 10728 0.0231171 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FSTL4 Arg176His R176H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPOCK1 Lys95Gln K95Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C5ORF53 Met1Ile M1I not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDHB14 Thr151Ala T151A not reviewed Insufficiently evaluated not reviewed unknown Array 98 10756 0.00911119 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KIAA0141 Arg140Stop R140X not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAT2 Thr1909Ile T1909I not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK309242 Cys34Arg C34R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NIPAL4 Val99Ala V99A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - FABP6 Met109Ile M109I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LCP2 Tyr522His Y522H not reviewed Insufficiently evaluated not reviewed unknown Array 35 9982 0.00350631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AX746723 Arg81Cys R81C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SLC34A1 His568Tyr H568Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34225933 253 10758 0.0235174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DBN1 Arg317Pro R317P not reviewed Insufficiently evaluated not reviewed unknown Array rs34301370 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAML1 Pro420Leu P420L not reviewed Insufficiently evaluated not reviewed unknown Array 14 10754 0.00130184 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BTNL8 His311Asp H311D not reviewed Insufficiently evaluated not reviewed unknown Array 3037 9890 0.307078 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - BTNL8 His311Gln H311Q not reviewed Insufficiently evaluated not reviewed unknown Array 3059 9910 0.308678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - JARID2 Arg262Gln R262Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM65B Cys1053Arg C1053R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1949 Val219Leu V219L not reviewed Insufficiently evaluated not reviewed unknown Array 14 6462 0.00216651 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSH5 Arg351Gly R351G not reviewed Insufficiently evaluated not reviewed unknown Array rs28399976 89 7514 0.0118446 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EHMT2 Asp101Asn D101N not reviewed Insufficiently evaluated not reviewed unknown Array 21 7512 0.00279553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HLA-DQB2 Ala152Gly A152G not reviewed Insufficiently evaluated not reviewed unknown Array rs34554556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-DQB2 Ala152Thr A152T not reviewed Insufficiently evaluated not reviewed unknown Array rs35275462 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BRD2 Ala49Ser A49S not reviewed Insufficiently evaluated not reviewed unknown Array rs55669504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BRD2 Ala49Gly A49G not reviewed Insufficiently evaluated not reviewed unknown Array rs3918144 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PI16 Val328Met V328M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GPR111 Leu617Pro L617P not reviewed Insufficiently evaluated not reviewed unknown Array 13 10344 0.00125677 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - B3GAT2 Arg51Gly R51G not reviewed Insufficiently evaluated not reviewed unknown Array 136 10338 0.0131553 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - COL12A1 Val2746Ala V2746A not reviewed Insufficiently evaluated not reviewed unknown Array rs34369939 76 9672 0.00785773 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SENP6 Ile256Val I256V not reviewed Insufficiently evaluated not reviewed unknown Array 40 9562 0.00418322 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ME1 Glu83Val E83V not reviewed Insufficiently evaluated not reviewed unknown Array 136 10758 0.0126418 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C6ORF165 Asp72Asn D72N not reviewed Insufficiently evaluated not reviewed unknown Array rs35438647 158 10746 0.0147031 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C6ORF165 Val112Ala V112A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASCC3 Lys1402Gln K1402Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10750 0.000930232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GRIK2 Met867Ile M867I not reviewed Insufficiently evaluated not reviewed unknown Array rs2235076 222 10758 0.0206358 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AKAP12 Val377Ala V377A not reviewed Insufficiently evaluated not reviewed unknown Array 65 10758 0.00604201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAGAP Glu147Lys E147K not reviewed Insufficiently evaluated not reviewed unknown Array rs41267765 163 10758 0.0151515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR27 Ile211Leu I211L not reviewed Insufficiently evaluated not reviewed unknown Array rs41265387 57 10388 0.0054871 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - THSD7A Pro56Arg P56R not reviewed Insufficiently evaluated not reviewed unknown Array 239 9356 0.0255451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OSBPL3 Met354Val M354V not reviewed Insufficiently evaluated not reviewed unknown Array rs11768296 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HOXA2 Val327Ile V327I not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NACAD Ala748Val A748V not reviewed Insufficiently evaluated not reviewed unknown Array rs10276909 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - VWC2 Gln256Pro Q256P not reviewed Insufficiently evaluated not reviewed unknown Array 470 10758 0.0436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC089392 Ile110Thr I110T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCF1C Thr76Met T76M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 1 1 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NCF1C is a pseudogene; sequence variation has no consequence. TRIM50 Lys239Glu K239E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STAG3L1 Arg80Cys R80C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TRIM73 Val128Ile V128I not reviewed Insufficiently evaluated not reviewed unknown Array 62 2608 0.023773 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SPDYE5 Phe198Leu F198L not reviewed Insufficiently evaluated not reviewed unknown Array 47 2926 0.0160629 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DTX2 Gly384Glu G384E not reviewed Insufficiently evaluated not reviewed unknown Array 828 6882 0.120314 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - RSBN1L Leu432Val L432V not reviewed Insufficiently evaluated not reviewed unknown Array 238 9432 0.0252332 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PEG10 Thr626Ala T626A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC3A Ile84Val I84V not reviewed Insufficiently evaluated not reviewed unknown Array 346 4586 0.075447 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - UPK3BL Arg184His R184H not reviewed Insufficiently evaluated not reviewed unknown Array 12 3222 0.00372439 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ARMC10 Asp326Glu D326E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CDHR3 Glu751Ala E751A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10032 0.000697767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DNAJB9 Ala2Thr A2T not reviewed Insufficiently evaluated not reviewed unknown Array rs61749953 40 10754 0.00371955 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MDFIC Thr69Arg T69R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM71F2 Thr173Ile T173I not reviewed Insufficiently evaluated not reviewed unknown Array 64 10338 0.00619075 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLXNA4 Val1043Met V1043M not reviewed Insufficiently evaluated not reviewed unknown Array 48 10206 0.00470312 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC13A4 Pro451Ser P451S not reviewed Insufficiently evaluated not reviewed unknown Array rs36004833 293 10758 0.0272355 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZC3HAV1 Lys770Glu K770E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTAGE15P Thr288Met T288M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CTAGE15P Ala364Val A364V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM115C Arg265Trp R265W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CTAGE6P Asn325Ser N325S not reviewed Insufficiently evaluated not reviewed unknown Array 130 5494 0.0236622 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM115C Val471Glu V471E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR2A42 Thr73Ala T73A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR2A42 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR2A42 Ser168Cys S168C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGEF5 Ser957Stop S957X not reviewed Insufficiently evaluated not reviewed unknown Array 199 3826 0.0520125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - WDR60 Ala314Val A314V not reviewed Insufficiently evaluated not reviewed unknown Array 99 9576 0.0103383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DEFB104A Arg38Gln R38Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10702 0.00196225 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX746881 Thr87Ala T87A not reviewed Insufficiently evaluated not reviewed unknown Array rs4072134 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AX746881 Arg269Pro R269P not reviewed Insufficiently evaluated not reviewed unknown Array rs11774156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP17L2 Asn462Asp N462D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP17L2 Asp332Asn D332N not reviewed Insufficiently evaluated not reviewed unknown Array 68 9076 0.00749229 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP17L2 Leu291Ile L291I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - USP17L2 Leu256Val L256V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP17L2 Cys200Tyr C200Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - USP17L2 Glu91Val E91V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - USP17L2 Ala47Thr A47T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - USP17L2 Ser45Cys S45C not reviewed Insufficiently evaluated not reviewed unknown Array 1 6634 0.000150738 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM86B1 Arg164Gln R164Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM86B1 Met232Thr M232T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC037255 Gly344Ser G344S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC037255 Ala274Val A274V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTMR7 Met522Thr M522T not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DQ578159 Val5Met V5M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WHSC1L1 Ser754Leu S754L not reviewed Insufficiently evaluated not reviewed unknown Array 92 9698 0.00948649 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SDR16C5 Val92Ala V92A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM164A Ser279Phe S279F not reviewed Insufficiently evaluated not reviewed unknown Array 168 10758 0.0156163 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - REXO1L1 Asp167Glu D167E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PSKH2 Arg79Lys R79K not reviewed Insufficiently evaluated not reviewed unknown Array rs35315725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MMP16 Arg386Trp R386W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAD54B Thr459Asn T459N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCRNA00255 Pro39Leu P39L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ENPP2 Arg99Cys R99C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FER1L6 Glu1177Gln E1177Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 9890 0.000101112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIFC2 Gln200His Q200H not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIFC2 Ile202Phe I202F not reviewed Insufficiently evaluated not reviewed unknown Array 50 10758 0.0046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - WASH1 Gly376Ser G376S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FOXD4 Stop440Tyr X440Y not reviewed Insufficiently evaluated not reviewed unknown Array 2023 9920 0.203931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - AQP7 Val152Phe V152F not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AQP7 Gln145Glu Q145E not reviewed Insufficiently evaluated not reviewed unknown Array 140 10758 0.0130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AQP7 Tyr115His Y115H not reviewed Insufficiently evaluated not reviewed unknown Array 170 10758 0.0158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - AQP7 Ala100Thr A100T not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK128180 Ala374Thr A374T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD18A Gln851Arg Q851R not reviewed Insufficiently evaluated not reviewed unknown Array rs41305300 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTNAP3 Leu1044Val L1044V not reviewed Insufficiently evaluated not reviewed unknown Array 155 4432 0.0349729 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CNTNAP3 Met1041Ile M1041I not reviewed Insufficiently evaluated not reviewed unknown Array 167 4392 0.0380237 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM75A3 Thr168Ile T168I not reviewed Insufficiently evaluated not reviewed unknown Array 895 7256 0.123346 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - FAM74A3 His126Asn H126N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM75A7 Arg627Trp R627W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM75A7 Gly612Asp G612D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ANKRD20A3 Gln81Lys Q81K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A3 Asn88Ser N88S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A3 Met786Thr M786T not reviewed Insufficiently evaluated not reviewed unknown Array 3 24 0.125 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ANKRD20A2 Asp61His D61H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC011779 Cys144Arg C144R not reviewed Insufficiently evaluated not reviewed unknown Array rs73447820 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC011779 Thr99Pro T99P not reviewed Insufficiently evaluated not reviewed unknown Array rs1809739 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC011779 Glu70Lys E70K not reviewed Insufficiently evaluated not reviewed unknown Array rs55747937 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC112987 Arg91Gly R91G not reviewed Insufficiently evaluated not reviewed unknown Array rs2321710 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC064331 Asn94Lys N94K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANKRD20A3 Glu48Gly E48G not reviewed Insufficiently evaluated not reviewed unknown Array 212 846 0.250591 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANKRD20A4 Ser192Thr S192T not reviewed Insufficiently evaluated not reviewed unknown Array 6 5430 0.00110497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A4 Ile546Val I546V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD20A4 Ala555Val A555V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ANKRD20A4 Ala616Ser A616S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ANKRD20A4 Glu645Lys E645K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A4 Thr706Ile T706I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKRD20A4 Gln707Lys Q707K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A4 Gln714Glu Q714E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD20A4 Val720Glu V720E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD20A4 Asn728Ser N728S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A4 Val761Ile V761I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKRD20A4 Gly767Ser G767S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC29 Cys76Trp C76W not reviewed Insufficiently evaluated not reviewed unknown Array rs71226084 98 8954 0.0109448 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC29 Ile104Leu I104L not reviewed Insufficiently evaluated not reviewed unknown Array rs71243579 3 6560 0.000457317 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FOXD4L5 Leu3Met L3M not reviewed Insufficiently evaluated not reviewed unknown Array 12 1054 0.0113852 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CBWD3 Asp132Tyr D132Y not reviewed Insufficiently evaluated not reviewed unknown Array 1396 4516 0.309123 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - TLE1 Thr328Met T328M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM22F Pro692Ala P692A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM22F Ser691Pro S691P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF3 Pro252Ser P252S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C9ORF174 Asn529Lys N529K not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OR13F1 Cys97Tyr C97Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC44A1 Thr502Ala T502A not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TNC Arg1698Gln R1698Q not reviewed Insufficiently evaluated not reviewed unknown Array rs61734387 146 10758 0.0135713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OR1L1 Leu13Val L13V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP188 Asp1578Glu D1578E not reviewed Insufficiently evaluated not reviewed unknown Array rs61751465 74 10758 0.0068786 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EEF1A1 Gly4Trp G4W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABO Gly267Arg G267R not reviewed Insufficiently evaluated not reviewed unknown Array rs41302905 138 9912 0.0139225 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABO Arg18Leu R18L not reviewed Insufficiently evaluated not reviewed unknown Array rs55876802 151 10128 0.0149092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LCN1 Arg129Stop R129X not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KCNT1 Thr737Met T737M not reviewed Insufficiently evaluated not reviewed unknown Array rs61744696 118 10712 0.0110157 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CR593643 Val107Met V107M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CR593643 His118Arg H118R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR593643 Lys359Glu K359E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PPP2R3B Ala566Thr A566T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10644 9.3949e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DMRTC1 Ala47Val A47V not reviewed Insufficiently evaluated not reviewed unknown Array 260 1502 0.173103 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - SPANXC Leu80His L80H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPANXC Leu80Val L80V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPANXC Leu68Val L68V not reviewed Insufficiently evaluated not reviewed unknown Array 293 8555 0.034249 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WASH1 Ser62Ile S62I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NPHP4 Arg1294Ser R1294S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10108 9.8931e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ALG6 Ser306Phe S306F not reviewed Insufficiently evaluated not reviewed unknown Array rs4630153 7933 10748 0.738091 2 0 4 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - C1ORF141 Asn109Shift N109Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZDHHC6 Arg18Shift R18Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - INSC Arg274Shift R274Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs71449160 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - RAPSN Val138Ile V138I not reviewed Insufficiently evaluated not reviewed unknown Array rs35810986 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - NDUFS3 Glu85Asp E85D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - RCOR2 Lys240Shift K240Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ATM Ser99Gly S99G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - KIF21A Leu1088Ile L1088I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - TUBA1A Trp137Arg W137R not reviewed Insufficiently evaluated not reviewed unknown Array rs1057725 2717 10738 0.253027 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 1 N - - TUBA1A Leu146Phe L146F not reviewed Insufficiently evaluated not reviewed unknown Array rs1057548 3136 10758 0.291504 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - NR_028064 His41Shift H41Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CR623477 Ala133Shift A133Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs115829455 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MKL2 Glu204Shift E204Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC12A3 Ala322Val A322V not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - HILS1 Tyr148Shift Y148Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DSG2 Thr745Met T745M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - ADAMTS10 Ser447Leu S447L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - APOB Asp1113His D1113H not reviewed Insufficiently evaluated not reviewed unknown Array rs12713844 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - SLC3A1 Tyr461His Y461H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SIX3 Thr316Ile T316I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10022 0.00019956 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - DYSF Glu489Lys E489K not reviewed Insufficiently evaluated not reviewed unknown Array rs61740288 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ALMS1 Val3964Leu V3964L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - TTN Ser20650Gly S20650G not reviewed Insufficiently evaluated not reviewed unknown Array rs72646885 64 9862 0.00648955 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Thr6951Pro T6951P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - STAT1 Arg588ArgGluArg R588RER not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP7-1 Tyr17Shift Y17Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67657722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UMODL1 Ser689Shift S689Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBS Arg369Cys R369C not reviewed Insufficiently evaluated not reviewed unknown Array rs117687681 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - GGT5 Ala42Shift A42Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34513858 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ITPR1 Val494Ile V494I not reviewed Insufficiently evaluated not reviewed unknown Array rs41289628 55 9974 0.00551434 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -4 - 2 N - - COL7A1 Arg2835His R2835H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10756 0.00074377 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - ALG1L2 Leu157Shift L157Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs79363936 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIT Thr274Met T274M not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - F11 Glu135Stop E135X pathogenic Moderate clinical importance, Likely pathogenic recessive Array 6 10758 0.000557724 1 0 1 0 0 2 Y - - 5 Y - - 3 - 1 - Y - - - - Y - 10 Y 3 N 1 1 Causes factor XI deficiency in a recessive manner, with symptoms of increased susceptibility to bruising, bleeding, and nosebleeds. This variant appears to be a well-established cause of the disease and is common in patients with Ashkenazi Jewish ancestry. Asakai et al 1991 (PMID: 2052060) reports that about half of pathogenic variants found in patients with Ashkenazi Jewish ancestry are this variant, and the frequency of the variant is high in this ancestry (1 in 8 to 1 in 10 believed to be a carrier of this or another pathogenic variant). TERT Ile589Val I589V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 1 1 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - LIFR Asp816Gly D816G not reviewed Insufficiently evaluated not reviewed unknown Array rs74856317 46 10758 0.00427589 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - GPR98 Asn6157Ser N6157S not reviewed Insufficiently evaluated not reviewed unknown Array 9 9566 0.000940832 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - H2AFY Ala168Shift A168Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DPYSL3 Gly399Shift G399Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-H Glu152Arg E152R not reviewed Insufficiently evaluated not reviewed unknown Array rs111557893 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - HLA-H Phe153Cys F153C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116796832 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - HLA-F Ser128Shift S128Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs3831361 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs111431035 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114218820 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115974895 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114230713 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116518960 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - HLA-L Arg38Shift R38Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs111358359 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116074642 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116629156 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs112098114 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116556354 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - TNXB Arg48Pro R48P not reviewed Insufficiently evaluated not reviewed unknown Array rs12208559 30 0 55 1 1 0 Y - - - - - - - - - - Y - - - - - Y 5 Y 2 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs115556740 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs76236285 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs116616716 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array rs114250845 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - STX11 Val267Met V267M not reviewed Insufficiently evaluated not reviewed unknown Array rs45574234 67 10758 0.00622792 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - VWDE Lys1273Shift K1273Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34760731 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AKAP9 Lys386Asn K386N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10736 9.3144e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SLC26A3 Ser400Ala S400A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SLC26A3 Arg399Shift R399Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - ATP6V0A4 Arg568Thr R568T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PRSS1 Lys170Glu K170E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PRSS1 Cys171Tyr C171Y not reviewed Insufficiently evaluated not reviewed unknown Array 944 10758 0.0877487 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 1 N - - SLC18A1 Gln10Shift Q10Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM3A Phe185Shift F185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 3 0 5 2 2 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ADAM3A (aka CYRN1) is a nonfunctional pseudogene. AK094914 Thr33Shift T33Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs80241272 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BC037321 Ser10Leu S10L not reviewed Insufficiently evaluated not reviewed unknown Array rs11805709 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DFFA Cys165Arg C165R not reviewed Insufficiently evaluated not reviewed unknown Array rs78046004 99 10758 0.00920245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NM_001146181 Met229Thr M229T not reviewed Insufficiently evaluated not reviewed unknown Array rs9724654 39 10752 0.00362723 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001146181 Leu148Ile L148I not reviewed Insufficiently evaluated not reviewed unknown Array rs2359484 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CROCC Ala655Val A655V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10230 0.00381232 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKR7L Cys185Tyr C185Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2235794 1962 3234 0.606679 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - VWA5B1 Arg520Gln R520Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41264533 9 3234 0.00278293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WASF2 Glu122Gln E122Q not reviewed Insufficiently evaluated not reviewed unknown Array 38 10752 0.00353423 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C1ORF38 Phe111Leu F111L not reviewed Insufficiently evaluated not reviewed unknown Array rs41284294 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHACTR4 Arg463Gly R463G not reviewed Insufficiently evaluated not reviewed unknown Array rs74455757 13 9876 0.00131632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CSMD2 Met2552Val M2552V not reviewed Insufficiently evaluated not reviewed unknown Array rs2641962 5286 10758 0.491355 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CSMD2 Ser1397Leu S1397L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GNL2 Ala676Thr A676T not reviewed Insufficiently evaluated not reviewed unknown Array rs34593152 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NFYC Val257Ala V257A not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZMYND12 Ile223Val I223V not reviewed Insufficiently evaluated not reviewed unknown Array 47 10758 0.00436884 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CYP4Z1 Ala377Gly A377G not reviewed Insufficiently evaluated not reviewed unknown Array 37 10758 0.0034393 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - OSBPL9 Thr292Ile T292I not reviewed Insufficiently evaluated not reviewed unknown Array rs61739207 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF177 Ser150Ala S150A not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C1ORF87 Glu150Lys E150K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAJC6 Ile192Val I192V not reviewed Insufficiently evaluated not reviewed unknown Array 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LRRC40 Pro388Ser P388S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF173 Ala174Thr A174T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PKN2 Arg51Gln R51Q not reviewed Insufficiently evaluated not reviewed unknown Array 8 9528 0.00083963 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKNAD1 Ala104Val A104V not reviewed Insufficiently evaluated not reviewed unknown Array rs17621411 205 10758 0.0190556 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CELSR2 Asp2175Asn D2175N not reviewed Insufficiently evaluated not reviewed unknown Array 11 10758 0.00102249 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OVGP1 Glu521Gln E521Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OVGP1 Pro519Thr P519T not reviewed Insufficiently evaluated not reviewed unknown Array rs113984808 48 10722 0.00447678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_024442 Ala163Val A163V not reviewed Insufficiently evaluated not reviewed unknown Array rs34958799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRPS21 Leu75Val L75V not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HRNR His474Gln H474Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HRNR Glu473Trp E473W not reviewed Insufficiently evaluated not reviewed unknown Array rs6587648 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - LCE1D Stop115Gly X115G not reviewed Insufficiently evaluated not reviewed unknown Array rs41268500 443 9570 0.0462905 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KCNN3 Ile714Thr I714T not reviewed Insufficiently evaluated not reviewed unknown Array rs76925601 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPTA1 Leu1485Phe L1485F not reviewed Insufficiently evaluated not reviewed unknown Array rs34973695 180 10058 0.0178962 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VANGL2 His281Arg H281R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FCGR2A Gln63Trp Q63W not reviewed Insufficiently evaluated not reviewed unknown Array rs9427397 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - DNM3 Ile242Val I242V not reviewed Insufficiently evaluated not reviewed unknown Array 5 9870 0.000506585 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PAPPA2 Cys1419Tyr C1419Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RGS2 Gly23Asp G23D not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NAV1 Tyr486Pro Y486P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK295654 Pro23Ser P23S not reviewed Insufficiently evaluated not reviewed unknown Array rs74141238 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAB7L1 Gln104Glu Q104E not reviewed Insufficiently evaluated not reviewed unknown Array rs41302139 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CR2 Gly979Ser G979S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MOSC2 Met334Leu M334L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NR_024236 Leu32Arg L32R not reviewed Insufficiently evaluated not reviewed unknown Array rs72746037 362 3234 0.111936 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - HEATR1 Leu1419Val L1419V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PITRM1 Gly1017Ser G1017S not reviewed Insufficiently evaluated not reviewed unknown Array rs35779348 241 10478 0.0230006 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BC065281 Ala76Thr A76T not reviewed Insufficiently evaluated not reviewed unknown Array rs12770830 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF33A Glu240Asp E240D not reviewed Insufficiently evaluated not reviewed unknown Array rs41276138 186 10758 0.0172895 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AIFM2 Arg221Gln R221Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEC24C Glu972Gln E972Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SLC16A12 Ser268Asn S268N not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF11 Asn651Ser N651S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HPSE2 Tyr211His Y211H not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CHUK His520Arg H520R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C10ORF76 Met533Leu M533L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PPRC1 Val729Ile V729I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SORCS1 His344Arg H344R not reviewed Insufficiently evaluated not reviewed unknown Array 4 10756 0.000371885 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SORCS1 Ser127Gly S127G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NRAP Arg1080Gln R1080Q not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TACC2 Arg960Lys R960K not reviewed Insufficiently evaluated not reviewed unknown Array rs112188313 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TACC2 Ala1215Val A1215V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TSPAN32 Arg164Cys R164C not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - OR51B5 Trp84Cys W84C not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM160A2 Gly672Arg G672R not reviewed Insufficiently evaluated not reviewed unknown Array 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNHD1 Gly3062Val G3062V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MICAL2 Met368Ile M368I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PTPN5 Gly321Glu G321E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF41 Glu1675Lys E1675K not reviewed Insufficiently evaluated not reviewed unknown Array 4 10134 0.00039471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NAT10 Met530Val M530V not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PAMR1 Arg190Cys R190C not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_027044 PheCys107SerArg FC107SR not reviewed Insufficiently evaluated not reviewed unknown Array rs71479502 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TNKS1BP1 Glu467Ala E467A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CTNND1 Arg287His R287H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10466 9.5547e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZP1 Val290Ala V290A not reviewed Insufficiently evaluated not reviewed unknown Array rs566411 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PGA5 Val353Leu V353L not reviewed Insufficiently evaluated not reviewed unknown Array rs17595 6 10756 0.000557828 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C11ORF9 Arg1114His R1114H not reviewed Insufficiently evaluated not reviewed unknown Array rs35113793 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AHNAK Val1274Ala V1274A not reviewed Insufficiently evaluated not reviewed unknown Array rs115627503 142 10758 0.0131995 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC22A8 Pro537Thr P537T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAT3 Tyr1963Cys Y1963C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - APOA4 Thr367Ala T367A not reviewed Insufficiently evaluated not reviewed unknown Array rs675 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SIK3 Glu289Lys E289K not reviewed Insufficiently evaluated not reviewed unknown Array rs45511502 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC006134 Pro7Ala P7A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARHGEF12 Asp1158Val D1158V not reviewed Insufficiently evaluated not reviewed unknown Array 29 9642 0.00300767 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SORL1 Glu2194Lys E2194K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PANX3 Phe67Leu F67L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WNT5B Val47Leu V47L not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEAD4 Pro238Leu P238L not reviewed Insufficiently evaluated not reviewed unknown Array rs71583736 128 10758 0.0118981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1RL Ile285Val I285V not reviewed Insufficiently evaluated not reviewed unknown Array rs3742089 4267 10758 0.396635 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - CD163L1 Ser1356Pro S1356P not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CLEC7A Leu183Phe L183F not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF59 Arg4Gln R4Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAS2R43 Ser11Ile S11I not reviewed Insufficiently evaluated not reviewed unknown Array rs117031315 187 8146 0.0229561 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATF7IP Gly147Arg G147R not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLBD1 Arg438Gln R438Q not reviewed Insufficiently evaluated not reviewed unknown Array rs75778757 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CASC1 Glu339Lys E339K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_001146221 Thr163Met T163M not reviewed Insufficiently evaluated not reviewed unknown Array rs11049125 427 3234 0.132035 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001146221 Leu157Ser L157S not reviewed Insufficiently evaluated not reviewed unknown Array rs11049126 426 3234 0.131725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - TUBA1C Gly140Arg G140R not reviewed Insufficiently evaluated not reviewed unknown Array rs1065741 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TUBA1C Val27Met V27M not reviewed Insufficiently evaluated not reviewed unknown Array rs7974831 3144 10644 0.295378 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM186B Thr213Met T213M not reviewed Insufficiently evaluated not reviewed unknown Array 200 10758 0.0185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DIP2B Pro142Del P142Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GALNT6 Arg105Trp R105W not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KRT78 Gly481Ser G481S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - INHBE Arg18Gln R18Q not reviewed Insufficiently evaluated not reviewed unknown Array 25 10758 0.00232385 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - XPOT Ala106Thr A106T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PMCH Gly21Val G21V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C12ORF76 Tyr10Cys Y10C not reviewed Insufficiently evaluated not reviewed unknown Array rs7137233 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FBXW8 Ala558Thr A558T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR66 Glu65GluGluLysGluGluGlu E65EEKEEE not reviewed Insufficiently evaluated not reviewed unknown Array rs71082910 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DNAH10 Asp3464Glu D3464E not reviewed Insufficiently evaluated not reviewed unknown Array rs61745785 65 10194 0.0063763 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SCARB1 Ser129Leu S129L not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK025040 Arg160His R160H not reviewed Insufficiently evaluated not reviewed unknown Array rs73164912 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GOLGA3 Lys1221Glu K1221E not reviewed Insufficiently evaluated not reviewed unknown Array 244 10758 0.0226808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA3 Asn380Ser N380S not reviewed Insufficiently evaluated not reviewed unknown Array rs118103768 201 10758 0.0186838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EFHA1 Glu409Asp E409D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10754 0.000278965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FLT1 Pro1201Leu P1201L not reviewed Insufficiently evaluated not reviewed unknown Array 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZC3H13 Ser216Asn S216N not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - OLFM4 Leu506Met L506M not reviewed Insufficiently evaluated not reviewed unknown Array rs34185719 159 10756 0.0147824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SLITRK6 Ile352Thr I352T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9702 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HS6ST3 Asn141Ser N141S not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CHD8 Glu2067Lys E2067K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10080 0.00079365 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STRN3 Arg367Lys R367K not reviewed Insufficiently evaluated not reviewed unknown Array 20 9830 0.00203459 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HEATR5A Arg173Gln R173Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 9938 0.000201247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC6 Ile86Ser I86S not reviewed Insufficiently evaluated not reviewed unknown Array rs12896790 804 10758 0.0747351 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - DACT1 Glu310Lys E310K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_024334 Gly98Ser G98S not reviewed Insufficiently evaluated not reviewed unknown Array rs1953416 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DJ031130 Met1Val M1V not reviewed Insufficiently evaluated not reviewed unknown Array rs928553 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C14ORF145 Val354Ala V354A not reviewed Insufficiently evaluated not reviewed unknown Array rs116610923 88 10758 0.00817996 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC25A29 Arg140Leu R140L not reviewed Insufficiently evaluated not reviewed unknown Array rs3825555 5604 10726 0.522469 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - KIF26A Ala162Thr A162T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AHNAK2 Asp552Asn D552N not reviewed Insufficiently evaluated not reviewed unknown Array rs45448397 59 10462 0.00563946 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR623477 Gln168GlnArgSer Q168QRS not reviewed Insufficiently evaluated not reviewed unknown Array rs60581578 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CR623477 Gln139His Q139H not reviewed Insufficiently evaluated not reviewed unknown Array rs73367258 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CR623477 Val134Shift V134Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs8020298 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CR623477 Tyr67His Y67H not reviewed Insufficiently evaluated not reviewed unknown Array rs35281264 3102 9798 0.316595 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - CXADRP2 Asn52Ile N52I not reviewed Insufficiently evaluated not reviewed unknown Array rs4984040 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_026771 Phe130Leu F130L not reviewed Insufficiently evaluated not reviewed unknown Array rs2611600 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GANC Gly880Asp G880D not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK297603 Asn377Asp N377D not reviewed Insufficiently evaluated not reviewed unknown Array rs3742993 738 3234 0.2282 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DUOXA1 Phe38Leu F38L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HERC1 Lys1038Thr K1038T not reviewed Insufficiently evaluated not reviewed unknown Array rs61740450 183 9558 0.0191463 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC49 Arg559His R559H not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD276 Val429Met V429M not reviewed Insufficiently evaluated not reviewed unknown Array rs62641691 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK302879 Gln6Arg Q6R not reviewed Insufficiently evaluated not reviewed unknown Array rs34243492 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEC11A Ala119Val A119V not reviewed Insufficiently evaluated not reviewed unknown Array 2 9622 0.000207856 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AKAP13 Asp2047Asn D2047N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NTRK3 Arg343Trp R343W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK301023 Thr131Met T131M not reviewed Insufficiently evaluated not reviewed unknown Array rs3829492 1668 10608 0.15724 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NARFL Glu306Ala E306A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_027242 Leu114Pro L114P not reviewed Insufficiently evaluated not reviewed unknown Array rs7189857 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RPL3L Ala75Val A75V not reviewed Insufficiently evaluated not reviewed unknown Array 245 10758 0.0227737 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPL Arg720His R720H not reviewed Insufficiently evaluated not reviewed unknown Array 40 10716 0.00373274 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRIN2A Arg1451Ser R1451S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TEKT5 Tyr36Cys Y36C not reviewed Insufficiently evaluated not reviewed unknown Array 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLEC16A Ser980Asn S980N not reviewed Insufficiently evaluated not reviewed unknown Array rs72650689 58 10558 0.00549346 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZC3H7A Ile474Thr I474T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10754 0.00065092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NDE1 Thr191Ile T191I not reviewed Insufficiently evaluated not reviewed unknown Array rs113493697 102 10758 0.00948132 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKTIP Lys276Glu K276E not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FTO Ala163Thr A163T not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CR600589 Pro361Thr P361T not reviewed Insufficiently evaluated not reviewed unknown Array rs79051270 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NOB1 Ser78Asn S78N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PHLPP2 Arg121Cys R121C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GLG1 Ser443Arg S443R not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS18 Gln146His Q146H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF469 Arg3414Thr R3414T not reviewed Insufficiently evaluated not reviewed unknown Array 19 3148 0.00603558 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747306 Ser78Leu S78L not reviewed Insufficiently evaluated not reviewed unknown Array rs35544968 422 3226 0.130812 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - FAM38A Ser338Tyr S338Y not reviewed Insufficiently evaluated not reviewed unknown Array rs112081600 131 3228 0.0405824 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SPIRE2 Arg244Gly R244G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10742 0.000465462 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_027336 Pro160Leu P160L not reviewed Insufficiently evaluated not reviewed unknown Array rs3743824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_027336 Val73Phe V73F not reviewed Insufficiently evaluated not reviewed unknown Array rs1048148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_027336 Trp23Stop W23X not reviewed Insufficiently evaluated not reviewed unknown Array rs1048149 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZZEF1 Glu1073Lys E1073K not reviewed Insufficiently evaluated not reviewed unknown Array rs7207986 71 10758 0.00659974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC150535 Pro113Ser P113S not reviewed Insufficiently evaluated not reviewed unknown Array rs12951761 5906 10664 0.553826 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - DHX33 Phe239Leu F239L not reviewed Insufficiently evaluated not reviewed unknown Array 36 10758 0.00334635 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NLGN2 Gln549Lys Q549K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAH2 Met249Ile M249I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP43 Arg1004Trp R1004W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CCDC144NL Gly30Arg G30R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BLMH Glu381Lys E381K not reviewed Insufficiently evaluated not reviewed unknown Array 24 10758 0.0022309 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM132E His551Tyr H551Y not reviewed Insufficiently evaluated not reviewed unknown Array rs75594429 248 10758 0.0230526 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLFN12L Arg356Cys R356C not reviewed Insufficiently evaluated not reviewed unknown Array 9 3234 0.00278293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPL45 Phe20Ser F20S not reviewed Insufficiently evaluated not reviewed unknown Array rs11559007 535 3234 0.16543 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - GPR179 Pro231Ser P231S not reviewed Insufficiently evaluated not reviewed unknown Array 9 10360 0.000868725 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PNMT Pro18Thr P18T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KRTAP4-8 Gly7Ser G7S not reviewed Insufficiently evaluated not reviewed unknown Array 109 3234 0.0337044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLEKHH3 Gly674Cys G674C not reviewed Insufficiently evaluated not reviewed unknown Array 13 10756 0.00120863 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AOC3 Arg329Gln R329Q not reviewed Insufficiently evaluated not reviewed unknown Array rs2229595 73 10756 0.00678691 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HILS1 Gly229Ala G229A not reviewed Insufficiently evaluated not reviewed unknown Array rs1046329 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHM1P Leu94Arg L94R not reviewed Insufficiently evaluated not reviewed unknown Array rs2074182 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CACNG5 Leu245Ile L245I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C17ORF54 Ala146Thr A146T not reviewed Insufficiently evaluated not reviewed unknown Array rs34026863 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C17ORF54 Tyr90His Y90H not reviewed Insufficiently evaluated not reviewed unknown Array rs2620035 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - BX648926 Thr119Met T119M not reviewed Insufficiently evaluated not reviewed unknown Array rs11867486 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BX648926 Gln16Arg Q16R not reviewed Insufficiently evaluated not reviewed unknown Array rs2290956 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF19 Ala222Thr A222T not reviewed Insufficiently evaluated not reviewed unknown Array rs34016821 25 10752 0.00232515 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NM_001001685 His41Tyr H41Y not reviewed Insufficiently evaluated not reviewed unknown Array 13 6042 0.0021516 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PGS1 Leu446Arg L446R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735179 90 10314 0.008726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BC171777 Ala144Thr A144T not reviewed Insufficiently evaluated not reviewed unknown Array rs9894262 876 3234 0.270872 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - MYADML2 Arg229Trp R229W not reviewed Insufficiently evaluated not reviewed unknown Array rs62077244 117 3230 0.0362229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FASN Gly882Asp G882D not reviewed Insufficiently evaluated not reviewed unknown Array 1 10726 9.3231e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC57 Gly828Ala G828A not reviewed Insufficiently evaluated not reviewed unknown Array rs78509330 70 10048 0.00696656 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXK2 Pro627Leu P627L not reviewed Insufficiently evaluated not reviewed unknown Array rs35832203 258 10758 0.0239822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CEP192 Gln1109Pro Q1109P not reviewed Insufficiently evaluated not reviewed unknown Array rs11080623 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEP192 Gln2040Arg Q2040R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD20A5 Ser57Ile S57I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10584 0.000188964 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GREB1L Glu93Lys E93K not reviewed Insufficiently evaluated not reviewed unknown Array 12 3234 0.00371057 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MEP1B Trp285Stop W285X not reviewed Insufficiently evaluated not reviewed unknown Array 3 9798 0.000306184 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - C18ORF34 Arg758His R758H not reviewed Insufficiently evaluated not reviewed unknown Array rs62090751 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RNF165 Asp303Glu D303E not reviewed Insufficiently evaluated not reviewed unknown Array rs61744490 137 10758 0.0127347 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZBTB7C Gly344Glu G344E not reviewed Insufficiently evaluated not reviewed unknown Array rs61738460 69 10758 0.00641383 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPAP2C Arg55Gln R55Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCF7L1 Pro151Leu P151L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHJ1 Gly72Cys G72C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C19ORF28 Ser327Phe S327F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FCER2 Gly295Ser G295S not reviewed Insufficiently evaluated not reviewed unknown Array 2 10754 0.000185977 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC16 Gln13598Arg Q13598R not reviewed Insufficiently evaluated not reviewed unknown Array 1 9906 0.000100948 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK304151 Gly61Stop G61X not reviewed Insufficiently evaluated not reviewed unknown Array rs3752199 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - HOOK2 Ala88Val A88V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001146693 Pro36Ser P36S not reviewed Insufficiently evaluated not reviewed unknown Array rs4926220 839 3232 0.259592 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - CPAMD8 Val480Glu V480E not reviewed Insufficiently evaluated not reviewed unknown Array rs61744414 127 9912 0.0128128 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF253 Arg477Gln R477Q not reviewed Insufficiently evaluated not reviewed unknown Array 18 10358 0.00173779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF98 Glu186Asp E186D not reviewed Insufficiently evaluated not reviewed unknown Array 3 10130 0.00029615 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_014727 Ala200Thr A200T not reviewed Insufficiently evaluated not reviewed unknown Array 3 9908 0.000302785 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LRFN3 Pro533Ser P533S not reviewed Insufficiently evaluated not reviewed unknown Array rs115982229 56 10738 0.00521512 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF571 Gly415Arg G415R not reviewed Insufficiently evaluated not reviewed unknown Array rs45542635 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR87 Gln820Pro Q820P not reviewed Insufficiently evaluated not reviewed unknown Array 30 3234 0.00927644 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WDR87 Ser551Cys S551C not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FBXO27 Asp168Val D168V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FCGBP Val4469Ile V4469I not reviewed Insufficiently evaluated not reviewed unknown Array 16 966 0.0165631 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF780B Arg428Cys R428C not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRRM5 LysAlaSer105Del KAS105Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RSPH6A Pro524Arg P524R not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PIH1D1 Glu83Lys E83K not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ALDH16A1 Pro527Arg P527R not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIGLEC16 Glu62Gln E62Q not reviewed Insufficiently evaluated not reviewed unknown Array rs12463036 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF611 Glu105Asp E105D not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AK056776 Gln205Glu Q205E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF331 Lys109Ile K109I not reviewed Insufficiently evaluated not reviewed unknown Array rs112855712 55 10758 0.00511247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KIR3DL3 Arg152His R152H not reviewed Insufficiently evaluated not reviewed unknown Array 505 8816 0.0572822 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ZNF542 Thr140Pro T140P not reviewed Insufficiently evaluated not reviewed unknown Array rs2304125 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PEG3 Arg1030Gln R1030Q not reviewed Insufficiently evaluated not reviewed unknown Array rs36044899 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF135 His609Gln H609Q not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PXDN Val1284Leu V1284L not reviewed Insufficiently evaluated not reviewed unknown Array 49 10416 0.0047043 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GREB1 Val991Ile V991I not reviewed Insufficiently evaluated not reviewed unknown Array rs3762578 3 10288 0.000291601 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PUM2 Pro1051Leu P1051L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABHD1 Val348Ile V348I not reviewed Insufficiently evaluated not reviewed unknown Array rs34178136 39 10758 0.00362521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DYNC2LI1 Glu348Gln E348Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41281457 22 10748 0.00204689 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - EML6 Gly1666Arg G1666R not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C2ORF86 Val439Ile V439I not reviewed Insufficiently evaluated not reviewed unknown Array 4 9808 0.00040783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - DNAH6 Met1232Val M1232V not reviewed Insufficiently evaluated not reviewed unknown Array rs61743118 54 3234 0.0166976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD36 Cys1159Ser C1159S not reviewed Insufficiently evaluated not reviewed unknown Array rs3731921 103 116 0.887931 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - LYG2 Thr149Ala T149A not reviewed Insufficiently evaluated not reviewed unknown Array rs34443578 34 10756 0.00316103 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - IL1RL1 Pro144Ser P144S not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_027181 Cys164Tyr C164Y not reviewed Insufficiently evaluated not reviewed unknown Array rs17050160 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DL492456 Arg148His R148H not reviewed Insufficiently evaluated not reviewed unknown Array rs35998722 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DL492456 Trp104Stop W104X not reviewed Insufficiently evaluated not reviewed unknown Array rs13033503 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CYTIP Gln83Glu Q83E not reviewed Insufficiently evaluated not reviewed unknown Array rs77710565 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KCNH7 Ala1015Thr A1015T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GRB14 Gly217Val G217V not reviewed Insufficiently evaluated not reviewed unknown Array rs34570870 167 10752 0.015532 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR_027433 Arg268Lys R268K not reviewed Insufficiently evaluated not reviewed unknown Array rs72885464 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HOXD1 Ala294Thr A294T not reviewed Insufficiently evaluated not reviewed unknown Array rs6710142 2723 10758 0.253114 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - UNC80 Ser1126Arg S1126R not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VIL1 His228Gln H228Q not reviewed Insufficiently evaluated not reviewed unknown Array 73 10758 0.00678565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - USP37 Ser170Leu S170L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF142 Pro996Ser P996S not reviewed Insufficiently evaluated not reviewed unknown Array 3 9814 0.000305685 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PTPRN Ile938Val I938V not reviewed Insufficiently evaluated not reviewed unknown Array 5 10122 0.000493973 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CHPF Thr760Asn T760N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KCNE4 Val96Met V96M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TM4SF20 Lys223Thr K223T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - INPP5D His1139Tyr H1139Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9247 1453 9738 0.149209 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - DGKD His149Pro H149P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIRPB1 Val62Leu V62L not reviewed Insufficiently evaluated not reviewed unknown Array rs41275424 117 10630 0.0110066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VSX1 Asp144Glu D144E not reviewed Insufficiently evaluated not reviewed unknown Array 29 10758 0.00269567 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - -2 - 1 N - - FRG1B Trp98Arg W98R not reviewed Insufficiently evaluated not reviewed unknown Array rs78862124 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FRG1B Ser104Leu S104L not reviewed Insufficiently evaluated not reviewed unknown Array rs62206784 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - REM1 Ile177Met I177M not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ERGIC3 Ile153Thr I153T not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DLGAP4 Arg126His R126H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DHX35 Arg536Cys R536C not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MYBL2 Arg687Cys R687C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF335 Arg481Gly R481G not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MMP9 Ser377Pro S377P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GCNT7 Asp351Glu D351E not reviewed Insufficiently evaluated not reviewed unknown Array rs34552628 1123 3234 0.347248 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - C20ORF151 Pro539Thr P539T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C20ORF151 Gly110Arg G110R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10752 0.000186011 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DIDO1 Ser650Leu S650L not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001033515 Ala86Val A86V not reviewed Insufficiently evaluated not reviewed unknown Array rs9723115 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C21ORF96 Ala6Asp A6D not reviewed Insufficiently evaluated not reviewed unknown Array rs3746865 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C21ORF121 Pro48Ser P48S not reviewed Insufficiently evaluated not reviewed unknown Array rs17114159 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C21ORF67 Pro108Leu P108L not reviewed Insufficiently evaluated not reviewed unknown Array 15 3234 0.00463822 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CECR2 Lys153Gln K153Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10186 0.000294521 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DGCR14 Val336Met V336M not reviewed Insufficiently evaluated not reviewed unknown Array rs17743887 265 10758 0.0246328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DGCR14 Ala31Val A31V not reviewed Insufficiently evaluated not reviewed unknown Array rs113904207 118 10748 0.0109788 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - POM121L4P Lys177Ile K177I not reviewed Insufficiently evaluated not reviewed unknown Array rs5751736 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_027052 Gln90Stop Q90X not reviewed Insufficiently evaluated not reviewed unknown Array rs4822808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BCR Arg308Cys R308C not reviewed Insufficiently evaluated not reviewed unknown Array rs35536098 11 10754 0.00102287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GGT5 Glu466Lys E466K not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RNF215 Pro318Arg P318R not reviewed Insufficiently evaluated not reviewed unknown Array 160 10758 0.0148727 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLC5A4 Ala287Thr A287T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CARD10 Glu1019Gln E1019Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CARD10 Trp69Cys W69C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BAIAP2L2 Met411MetThrProMet M411MTPM not reviewed Insufficiently evaluated not reviewed unknown Array rs11282310 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRR5-ARHGAP8 Arg522Ser R522S not reviewed Insufficiently evaluated not reviewed unknown Array rs41278891 273 10758 0.0253765 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_027240 Gln8Arg Q8R not reviewed Insufficiently evaluated not reviewed unknown Array rs28477160 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LMF2 Leu326Phe L326F not reviewed Insufficiently evaluated not reviewed unknown Array 21 10758 0.00195204 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUP210 Asp831His D831H not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FN394065 Arg332Trp R332W not reviewed Insufficiently evaluated not reviewed unknown Array rs17040821 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FN394065 Arg307His R307H not reviewed Insufficiently evaluated not reviewed unknown Array rs7639807 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - XIRP1 Val614Ile V614I not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDCP1 Ala672Thr A672T not reviewed Insufficiently evaluated not reviewed unknown Array 48 10758 0.0044618 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCR3 Arg275Gln R275Q not reviewed Insufficiently evaluated not reviewed unknown Array rs41409552 127 10758 0.0118052 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR6 Val681Ile V681I not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CDHR4 Ala341Val A341V not reviewed Insufficiently evaluated not reviewed unknown Array 3 3234 0.000927643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAPKAPK3 Cys99Tyr C99Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQCF3 Val87Ile V87I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10678 0.00355872 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - STAB1 Pro2135Ala P2135A not reviewed Insufficiently evaluated not reviewed unknown Array 12 10746 0.00111669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR128 Val118Leu V118L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PVRL3 Pro45Ser P45S not reviewed Insufficiently evaluated not reviewed unknown Array 4 10218 0.000391466 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ARHGAP31 Thr679Ile T679I not reviewed Insufficiently evaluated not reviewed unknown Array rs61736796 1 10014 9.986e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GOLGB1 Val328Ala V328A not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC14 Arg619His R619H not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GATA2 Pro161Ala P161A not reviewed Insufficiently evaluated not reviewed unknown Array rs34799090 108 10756 0.0100409 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK294171 Val91Leu V91L not reviewed Insufficiently evaluated not reviewed unknown Array rs789247 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFT122 Glu648Ala E648A not reviewed Insufficiently evaluated not reviewed unknown Array rs72982629 115 10758 0.0106897 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KY Pro330Ser P330S not reviewed Insufficiently evaluated not reviewed unknown Array 7 10142 0.000690199 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CPA3 Thr317Ile T317I not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C3ORF16 Val124Met V124M not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC39 Gln478Arg Q478R not reviewed Insufficiently evaluated not reviewed unknown Array rs115545935 47 9380 0.00501066 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM207 Ala12Val A12V not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FGF12 Gly47Arg G47R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10698 0.00018695 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CPN2 Gln509Arg Q509R not reviewed Insufficiently evaluated not reviewed unknown Array rs4974538 8893 10756 0.826794 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 1 N - - LRRC15 Pro286Leu P286L not reviewed Insufficiently evaluated not reviewed unknown Array rs13070515 1995 10758 0.185443 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - LRRC15 Val264Ile V264I not reviewed Insufficiently evaluated not reviewed unknown Array rs13060627 2511 10758 0.233408 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - MUC20 Met421Thr M421T not reviewed Insufficiently evaluated not reviewed unknown Array rs3828407 162 10242 0.0158172 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Ser2120Pro S2120P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRC33 Arg182Ser R182S not reviewed Insufficiently evaluated not reviewed unknown Array 23 10756 0.00213834 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GAK His281Tyr H281Y not reviewed Insufficiently evaluated not reviewed unknown Array 19 10756 0.00176646 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM175 Arg335His R335H not reviewed Insufficiently evaluated not reviewed unknown Array 21 10754 0.00195276 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPON2 Arg261Lys R261K not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PSAPL1 Ala517Thr A517T not reviewed Insufficiently evaluated not reviewed unknown Array rs60816800 1321 10250 0.128878 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - PSAPL1 Ala374Glu A374E not reviewed Insufficiently evaluated not reviewed unknown Array rs61738677 1012 10388 0.0974201 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - PSAPL1 Val296Met V296M not reviewed Insufficiently evaluated not reviewed unknown Array rs6850206 1765 10604 0.166447 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - PSAPL1 Arg123His R123H not reviewed Insufficiently evaluated not reviewed unknown Array rs56402179 1373 10158 0.135164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - SORCS2 Asp351Glu D351E not reviewed Insufficiently evaluated not reviewed unknown Array rs35935435 157 10012 0.0156812 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - AX746755 Arg271Gly R271G not reviewed Insufficiently evaluated not reviewed unknown Array rs114709672 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AX746755 Gly267Asp G267D not reviewed Insufficiently evaluated not reviewed unknown Array rs76890796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HMX1 Gly122Ser G122S not reviewed Insufficiently evaluated not reviewed unknown Array rs61745347 86 1648 0.0521845 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - BOD1L Gln1775Pro Q1775P not reviewed Insufficiently evaluated not reviewed unknown Array rs61995954 57 10758 0.00529838 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM184B Arg67Trp R67W not reviewed Insufficiently evaluated not reviewed unknown Array rs61746445 5 3212 0.00155666 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_027277 Gln106Glu Q106E not reviewed Insufficiently evaluated not reviewed unknown Array rs17439810 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GUF1 Arg390Gln R390Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CSN3 Pro56Thr P56T not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SEC31A Asn456Lys N456K not reviewed Insufficiently evaluated not reviewed unknown Array rs3797036 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HERC6 Phe343Leu F343L not reviewed Insufficiently evaluated not reviewed unknown Array rs17014118 3054 9472 0.322424 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - AK098126 Thr22Pro T22P not reviewed Insufficiently evaluated not reviewed unknown Array rs12644283 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PALLD Arg617Cys R617C not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SPEF2 Arg1536Gln R1536Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 9764 0.00153626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF2A Ser128Pro S128P not reviewed Insufficiently evaluated not reviewed unknown Array 10 10756 0.000929713 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POC5 Ala446Thr A446T not reviewed Insufficiently evaluated not reviewed unknown Array rs34678567 131 10352 0.0126546 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BHMT2 Gly323Glu G323E not reviewed Insufficiently evaluated not reviewed unknown Array rs35805620 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CMYA5 Lys2160Glu K2160E not reviewed Insufficiently evaluated not reviewed unknown Array 6 9662 0.000620989 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CMYA5 Glu3503Gln E3503Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 9834 0.000711816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - THBS4 Gln954His Q954H not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ERAP2 Thr347Met T347M not reviewed Insufficiently evaluated not reviewed unknown Array rs75263594 265 10758 0.0246328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NEUROG1 Arg90Ser R90S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10702 9.344e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NR_027127 Trp61Stop W61X not reviewed Insufficiently evaluated not reviewed unknown Array rs10045717 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LECT2 Ile24Thr I24T not reviewed Insufficiently evaluated not reviewed unknown Array rs62623707 363 10758 0.0337423 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCDHB2 Phe154Leu F154L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PCDHB13 Glu232Gln E232Q not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PRELID2 Ser4Leu S4L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ODZ2 Arg1891His R1891H not reviewed Insufficiently evaluated not reviewed unknown Array 1 10254 9.7522e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RUFY1 Leu353Phe L353F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK126168 Ala26Thr A26T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HIST1H1C Ala28Thr A28T not reviewed Insufficiently evaluated not reviewed unknown Array rs75040909 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-F Val57Gly V57G not reviewed Insufficiently evaluated not reviewed unknown Array rs9261113 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HLA-F Gly62Ala G62A not reviewed Insufficiently evaluated not reviewed unknown Array rs9261114 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-F Asp123Glu D123E not reviewed Insufficiently evaluated not reviewed unknown Array rs2275852 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HLA-F Met126Leu M126L not reviewed Insufficiently evaluated not reviewed unknown Array rs2275851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - HLA-L His17Arg H17R not reviewed Insufficiently evaluated not reviewed unknown Array rs2516709 1956 7520 0.260106 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - HLA-L Ile30Val I30V not reviewed Insufficiently evaluated not reviewed unknown Array rs2516707 1963 7522 0.260968 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - HLA-L Ala142Val A142V not reviewed Insufficiently evaluated not reviewed unknown Array rs2023478 1964 7522 0.261101 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - HLA-L Trp144Stop W144X not reviewed Insufficiently evaluated not reviewed unknown Array rs2023477 1944 7522 0.258442 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 1 N - - HLA-L Cys172Tyr C172Y not reviewed Insufficiently evaluated not reviewed unknown Array rs2516700 2725 10758 0.2533 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_000500 Leu278Val L278V not reviewed Insufficiently evaluated not reviewed unknown Array rs6471 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LYPLA2P1 Gly14Ala G14A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DNAH8 Arg2232Leu R2232L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TREML2 Ala68Thr A68T not reviewed Insufficiently evaluated not reviewed unknown Array rs61736679 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLK2 Gly301Arg G301R not reviewed Insufficiently evaluated not reviewed unknown Array rs35192247 408 10758 0.0379253 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLA2G7 Phe51Ile F51I not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GPR116 Ser695Thr S695T not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GPR110 Thr201Ile T201I not reviewed Insufficiently evaluated not reviewed unknown Array rs115889915 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C6ORF142 Glu455Ala E455A not reviewed Insufficiently evaluated not reviewed unknown Array rs2754779 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BMP5 Asn345Ser N345S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MMS22L Ser759Pro S759P not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PRDM1 Leu450Phe L450F not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AKD1 Glu703Del E703Del not reviewed Insufficiently evaluated not reviewed unknown Array rs72285221 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DSE Ile282Val I282V not reviewed Insufficiently evaluated not reviewed unknown Array rs34994230 326 10758 0.030303 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MCM9 Pro422Leu P422L not reviewed Insufficiently evaluated not reviewed unknown Array rs35917528 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CENPW Ala64Val A64V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TXLNB Thr498Pro T498P not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC157832 Pro53Leu P53L not reviewed Insufficiently evaluated not reviewed unknown Array rs7747948 2571 9588 0.268148 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - AK296276 Lys99Asn K99N not reviewed Insufficiently evaluated not reviewed unknown Array rs13195800 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SNX8 Phe392Tyr F392Y not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - SNX8 Tyr391Asn Y391N not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PMS2CL Thr186Ala T186A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PMS2CL Ser187Thr S187T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM188B Ser392Leu S392L not reviewed Insufficiently evaluated not reviewed unknown Array 41 10414 0.00393701 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DPY19L2P1 Asp296Gly D296G not reviewed Insufficiently evaluated not reviewed unknown Array rs17205892 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HERPUD2 His157Tyr H157Y not reviewed Insufficiently evaluated not reviewed unknown Array 79 10758 0.00734337 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZMIZ2 Ala843Val A843V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA13 Val941Leu V941L not reviewed Insufficiently evaluated not reviewed unknown Array rs78575608 450 9548 0.0471303 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Ala3142Val A3142V not reviewed Insufficiently evaluated not reviewed unknown Array rs3931814 1128 9938 0.113504 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - ABCA13 Gln4302Arg Q4302R not reviewed Insufficiently evaluated not reviewed unknown Array rs4917153 1750 9960 0.175703 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - NR_003952 His58Arg H58R not reviewed Insufficiently evaluated not reviewed unknown Array rs574717 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_003952 His43Asp H43D not reviewed Insufficiently evaluated not reviewed unknown Array rs595463 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK301806 Ala209Glu A209E not reviewed Insufficiently evaluated not reviewed unknown Array rs11976837 1029 3232 0.318379 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - ERV3 Cys189Tyr C189Y not reviewed Insufficiently evaluated not reviewed unknown Array rs34639489 4772 9950 0.479598 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - NM_001161833 Gly42Arg G42R not reviewed Insufficiently evaluated not reviewed unknown Array rs2420827 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001161833 Gln45Lys Q45K not reviewed Insufficiently evaluated not reviewed unknown Array rs3800823 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001161833 Asp160His D160H not reviewed Insufficiently evaluated not reviewed unknown Array rs2003301 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001161833 Pro189Arg P189R not reviewed Insufficiently evaluated not reviewed unknown Array rs2003300 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RABGEF1 Gln465Glu Q465E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ABCB1 Met89Thr M89T not reviewed Insufficiently evaluated not reviewed unknown Array rs35810889 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ASNS Ala122Thr A122T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASNS Gly119Ser G119S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NPTX2 Gly307Ser G307S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZCWPW1 Arg369His R369H not reviewed Insufficiently evaluated not reviewed unknown Array 5 9820 0.000509164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALKBH4 Arg137Gln R137Q not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PUS7 His123Tyr H123Y not reviewed Insufficiently evaluated not reviewed unknown Array rs61741425 172 10758 0.0159881 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDHR3 Ala798Ser A798S not reviewed Insufficiently evaluated not reviewed unknown Array 62 9864 0.00628548 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LRRC4 His394Tyr H394Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CPA2 Leu381Met L381M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - UBN2 Ser424Leu S424L not reviewed Insufficiently evaluated not reviewed unknown Array 170 9774 0.0173931 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PARP12 Trp150Leu W150L not reviewed Insufficiently evaluated not reviewed unknown Array rs61729681 445 10758 0.0413646 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TAS2R5 Gly20Ser G20S not reviewed Insufficiently evaluated not reviewed unknown Array rs2234013 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - X01410 Tyr83Phe Y83F not reviewed Insufficiently evaluated not reviewed unknown Array rs1042956 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - UBE3C Ala359Thr A359T not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYOM2 Pro1176Arg P1176R not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AGPAT5 Arg195His R195H not reviewed Insufficiently evaluated not reviewed unknown Array 16 10758 0.00148726 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PCM1 Phe109Leu F109L not reviewed Insufficiently evaluated not reviewed unknown Array 3 9766 0.000307188 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDT18 Ser280Ile S280I not reviewed Insufficiently evaluated not reviewed unknown Array 16 10172 0.00157295 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HR Thr13Ala T13A not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - ADAM7 Val358Met V358M not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM3A Gly372Ser G372S not reviewed Insufficiently evaluated not reviewed unknown Array rs7813010 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ADAM3A Asn302Ser N302S not reviewed Insufficiently evaluated not reviewed unknown Array rs7840918 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAM3A Arg215Gly R215G not reviewed Insufficiently evaluated not reviewed unknown Array rs7845028 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PREX2 Ser977Leu S977L not reviewed Insufficiently evaluated not reviewed unknown Array rs61753700 78 10758 0.00725042 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - XKR9 Phe113Leu F113L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AK128216 His36Tyr H36Y not reviewed Insufficiently evaluated not reviewed unknown Array rs9298224 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MATN2 Ala56Val A56V not reviewed Insufficiently evaluated not reviewed unknown Array 26 10022 0.00259429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C8ORF73 Arg71Cys R71C not reviewed Insufficiently evaluated not reviewed unknown Array 3 9968 0.000300963 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KIAA1875 Glu199Gly E199G not reviewed Insufficiently evaluated not reviewed unknown Array rs13250446 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TONSL Ala714Val A714V not reviewed Insufficiently evaluated not reviewed unknown Array rs7830832 4438 10650 0.416714 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - TONSL Gly493Ser G493S not reviewed Insufficiently evaluated not reviewed unknown Array rs2229315 5907 10734 0.550307 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - MLLT3 Thr344Ile T344I not reviewed Insufficiently evaluated not reviewed unknown Array rs78515495 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIAA1797 Ile813Asn I813N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIF24 Thr1077Lys T1077K not reviewed Insufficiently evaluated not reviewed unknown Array rs34101674 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001141917 Ala1165Ser A1165S not reviewed Insufficiently evaluated not reviewed unknown Array rs4878588 1322 3234 0.408782 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001141917 Arg1101His R1101H not reviewed Insufficiently evaluated not reviewed unknown Array rs2297134 1313 3232 0.40625 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NM_001141917 His1060Tyr H1060Y not reviewed Insufficiently evaluated not reviewed unknown Array rs472644 481 3212 0.149751 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001141917 Ser999Ile S999I not reviewed Insufficiently evaluated not reviewed unknown Array rs3739881 1322 3234 0.408782 2 0 3 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_001141917 Leu600Ser L600S not reviewed Insufficiently evaluated not reviewed unknown Array rs528197 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NM_001141917 Phe352Ser F352S not reviewed Insufficiently evaluated not reviewed unknown Array rs521630 732 2572 0.284603 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - NM_001141917 Pro345Ser P345S not reviewed Insufficiently evaluated not reviewed unknown Array rs521574 9 2694 0.00334076 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AK300656 Arg11Stop R11X not reviewed Insufficiently evaluated not reviewed unknown Array rs11140223 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIF27 Gln194Arg Q194R not reviewed Insufficiently evaluated not reviewed unknown Array rs2778390 2 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CTSL3 Val169Met V169M not reviewed Insufficiently evaluated not reviewed unknown Array rs9410963 2087 10758 0.193995 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - CENPP Thr257Ala T257A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF129 Arg130His R130H not reviewed Insufficiently evaluated not reviewed unknown Array rs117465023 58 9876 0.00587282 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - COL15A1 Lys775Gln K775Q not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GRIN3A Asp331Asn D331N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC44A1 Asp419Val D419V not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DBC1 Arg358His R358H not reviewed Insufficiently evaluated not reviewed unknown Array rs17476783 214 10758 0.0198922 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAF1 Met139Thr M139T not reviewed Insufficiently evaluated not reviewed unknown Array rs113495277 171 10758 0.0158951 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF79 Ala365Thr A365T not reviewed Insufficiently evaluated not reviewed unknown Array 125 10758 0.0116193 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C9ORF117 Thr414Met T414M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZDHHC12 Ser8Gly S8G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10740 9.3109e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPP2R4 Tyr109Cys Y109C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FNBP1 Met429Thr M429T not reviewed Insufficiently evaluated not reviewed unknown Array rs77988508 47 9640 0.00487552 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NUP214 Ala255Thr A255T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LCN1 Val103Leu V103L not reviewed Insufficiently evaluated not reviewed unknown Array rs55884352 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNLZ Ile86Val I86V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TANK Ala177Val A177V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA2 His583Pro H583P not reviewed Insufficiently evaluated not reviewed unknown Array rs908828 10207 10208 0.999902 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - C1GALT1C1 Ala143Val A143V not reviewed Insufficiently evaluated not reviewed unknown Array rs45557031 154 8759 0.0175819 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CXORF40A Asp159Gly D159G not reviewed Insufficiently evaluated not reviewed unknown Array rs626560 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CXORF40A Thr70Ala T70A not reviewed Insufficiently evaluated not reviewed unknown Array rs626560 2 0 4 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TBL1Y Thr125Ser T125S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TBL1Y Glu146Asp E146D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PLCH2 Thr1306Shift T1306Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLOD1 Arg2Gly R2G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CROCC Ser2012Shift S2012Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ALPL His281Shift H281Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - HSPG2 Ile3264Val I3264V not reviewed Insufficiently evaluated not reviewed unknown Array 112 10758 0.0104109 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - HSPG2 Ile2038Met I2038M not reviewed Insufficiently evaluated not reviewed unknown Array rs116788687 174 10756 0.016177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - HSPG2 Asp2006Ala D2006A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 5 Y 2 N - - HSPG2 Thr2005Pro T2005P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - CYP4A22 Ile18Shift I18Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NRD1 Ile897Shift I897Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DEPDC1 Asn355Shift N355Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZZZ3 Tyr702Shift Y702Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL24A1 Val75Shift V75Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NGF Val232Shift V232Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - NOTCH2 Ala21Thr A21T not reviewed Insufficiently evaluated not reviewed unknown Array 1901 9128 0.20826 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 2 N - - HRNR Met1Shift M1Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs116620620 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FLG Gly3733Val G3733V not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - FLG Gln2574Glu Q2574E not reviewed Insufficiently evaluated not reviewed unknown Array 177 10754 0.016459 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - ARHGAP30 Ala644Shift A644Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FASLG Pro53Del P53Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - KLHL20 Ser445Shift S445Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C1ORF49 Gly169Shift G169Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HMCN1 Tyr3033His Y3033H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - USH2A Gly2211Val G2211V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - PYCR2 Phe19Shift F19Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GNPAT Leu388Pro L388P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - LGALS8 Asn67Shift N67Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SDCCAG8 Cys521Shift C521Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBXO18 Gln77Shift Q77Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRPF18 Glu37Shift E37Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ANKRD26 Gln1235Shift Q1235Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EGR2 Ser354Stop S354X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - HTR7 Tyr13Shift Y13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LGI1 Val69Ile V69I not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - C10ORF92 Ala225Shift A225Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PAOX Pro431Shift P431Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MRPL23 Arg134Shift R134Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - IGF2 Val10Gly V10G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - CSTF3 Tyr440Shift Y440Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RAG1 Ala64Shift A64Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - INTS5 Pro105Shift P105Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAP3K11 Ala629Shift A629Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SPTBN2 Ser1512Arg S1512R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - AIP Pro232Shift P232Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - CTTN Leu548Shift L548Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC36A4 Ile375Shift I375Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CACNA1C Ala2072Shift A2072Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ABCC9 Gln1032Leu Q1032L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - LRRK2 Asn1909Asp N1909D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - NM_004719 Asn1461Shift N1461Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLI1 Pro996Shift P996Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TBK1 Thr478Shift T478Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LEMD3 Tyr532Asn Y532N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RAB3IP Asn212Shift N212Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LTA4H Phe572Shift F572Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BRAP Glu155Shift E155Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EP400 Leu549Shift L549Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EP400NL Gly22Shift G22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NBEA Leu1385Shift L1385Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RNASEH2B Val20Leu V20L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - ATP7B Glu423Gly E423G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TEP1 Ser905Shift S905Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ARHGEF40 Arg983Shift R983Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SDR39U1 Gly181Shift G181Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11538256 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CR597916 Arg124Shift R124Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FSCB Glu553Shift E553Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ERO1L Ser223Shift S223Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SIX4 Ala77Shift A77Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SYNE2 Ser5824Shift S5824Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLEKHG3 Glu546Shift E546Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RBM25 Pro15Shift P15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - YLPM1 Gln60Shift Q60Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ESRRB Leu396Pro L396P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TC2N Leu212Shift L212Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SIVA1 Gln129Shift Q129Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZFP106 Ser482Shift S482Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTBK2 Cys494Gly C494G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - BNIP2 Ile393Shift I393Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC24A1 Val938Shift V938Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C15ORF40 Leu132Shift L132Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCI Leu507Pro L507P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - IGF1R Lys173Thr K173T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NDUFB10 Glu44Shift E44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PKD1 Arg1340Trp R1340W not reviewed Insufficiently evaluated not reviewed unknown Array 29 10718 0.00270573 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SRRM2 Pro2499Shift P2499Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CREBBP Gln2022Arg Q2022R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PARN Leu65Shift L65Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UMOD Val129Gly V129G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - VWA3A Tyr973Shift Y973Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TNRC6A Gln1474Shift Q1474Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - XPO6 Phe257Shift F257Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SEZ6L2 Gly149Shift G149Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - INO80E Tyr15Shift Y15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF843 Ala239Shift A239Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYLD Tyr353Shift Y353Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CYLD Val360Ile V360I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ELMO3 Arg577Shift R577Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CDH1 Lys268Arg K268R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - BC144350 Gln193Shift Q193Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RFWD3 Gln71Shift Q71Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CHST6 Val6Shift V6Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C17ORF107 Ala142Shift A142Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIF1C Arg867Shift R867Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH2 Gln3517Shift Q3517Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PIK3R6 Leu609Shift L609Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs67518351 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SREBF1 Arg936Shift R936Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYO19 Glu347Shift E347Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SRCIN1 Ser362Shift S362Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MED1 Glu1415Shift E1415Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT33A Glu185Shift E185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT13 Thr170Ser T170S not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - KLHL11 Ala13Shift A13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SLC4A1 Leu677Pro L677P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - MAPT Tyr441His Y441H not reviewed Insufficiently evaluated not reviewed unknown Array rs112757188 1916 10758 0.1781 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 2 N - - WNT3 Cys158Arg C158R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - EME1 Val406Shift V406Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ABCC3 Glu9Shift E9Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AP1S2 Thr35Ala T35A not reviewed Insufficiently evaluated not reviewed unknown Array rs8075626 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - CA4 Val234Ile V234I not reviewed Insufficiently evaluated not reviewed unknown Array rs117704637 123 10758 0.0114334 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - APOH Ser109Shift S109Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TTYH2 Phe34Shift F34Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - UNK Lys844Shift K844Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NOTUM Ala229Shift A229Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NPC1 Pro237Ser P237S not reviewed Insufficiently evaluated not reviewed unknown Array rs80358251 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - LAMA3 Pro17Gly P17G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - FHOD3 Lys909Shift K909Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CSNK1G2 Pro337Shift P337Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZFR2 Tyr6Shift Y6Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VAV1 Phe129Shift F129Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MUC16 His13909Shift H13909Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OR7E24 Phe11Shift F11Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF562 Gly141Shift G141Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs112014279 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TYK2 Tyr1079Cys Y1079C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - YIPF2 Gln67Shift Q67Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAN2B1 Gly835Val G835V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - NOTCH3 Leu1296Arg L1296R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CPAMD8 Ala560Shift A560Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ELL Gln296Shift Q296Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COMP CysPro229TyrSer CP229YS not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TMEM149 Thr172Shift T172Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CATSPERG Arg17Shift R17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - RYR1 Asp418Gly D418G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - C19ORF47 Gln162Shift Q162Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LTBP4 Arg1135Shift R1135Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FOXA3 Pro185Shift P185Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DHX34 Pro549Shift P549Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LMTK3 Leu696Shift L696Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SNRNP70 Gly54Shift G54Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MYH14 Gln1269His Q1269H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - SHANK1 Arg127Shift R127Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NBAS Asn1518Shift N1518Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - OTOF Phe303Leu F303L not reviewed Insufficiently evaluated not reviewed unknown Array 13 0 13 0 0 0 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - C2ORF71 Ser1225SerSer S1225SS not reviewed Insufficiently evaluated not reviewed unknown Array rs72122505 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SOS1 Asn869Ser N869S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - DYSF Val406Leu V406L not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - SLC4A4 Arg21Del R21Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - GGCX Ser7Shift S7Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SFTPB Leu13Pro L13P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 7 Y 2 N - - TMEM127 Asp70Ala D70A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CIAO1 Thr29Shift T29Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KIAA1310 Pro752Shift P752Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLI2 Pro225His P225H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - GLI2 His1105Pro H1105P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PROC Arg38Leu R38L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 6 Y 2 N - - TNFAIP6 Stop278Shift X278Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71403164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NEB Ile3225Arg I3225R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - NEB Arg2812Cys R2812C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - TTN Ile27863Thr I27863T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Ser1772Gly S1772G not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - COL3A1 Gln998Shift Q998Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - WDR75 Cys573Shift C573Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PMS1 Glu374Lys E374K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMS1 Ser381Ala S381A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYO1B Tyr926Shift Y926Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BOLL Leu102Shift L102Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LANCL1 Tyr158Shift Y158Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRKAG3 Glu76Shift E76Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - C20ORF54 Leu4Pro L4P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLK1S1 Glu126Shift E126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HNF4A Val169Ile V169I benign Low clinical importance, Likely benign unknown Array 2 10758 0.000185908 1 0 1 0 0 - - 0 Y 5 Y - - - - - - Y - - - - Y - -4 - 2 N 0 1 Reported to cause maturity onset diabetes of the young (MODY, or monogenic diabetes). This effect is reported as "likely pathogenic" in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000030023/). However, according to ExAC this variant is much more frequent in south asian ancestry, where it has an allele frequency of 1.5% (about 1 in 35 carry the variant). This is very strong evidence against it causing this disease, and the reported effect should be considered disproven. RAE1 Gln125Shift Q125Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VAPB Glu124Gly E124G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - CHRNA4 Pro388Shift P388Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - PRDM15 Trp126Shift W126Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CBS Thr260Pro T260P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - KRTAP10-12 Ala140Shift A140Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL18A1 Ala683Thr A683T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL18A1 ProGlyPro1362Del PGP1362Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - COL6A1 Leu8Arg L8R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - COL6A1 Leu10Val L10V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - PCNT His156Arg H156R not reviewed Insufficiently evaluated not reviewed unknown Array rs61735825 295 10758 0.0274215 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 1 - 1 N - - CECR2 Asn26Shift N26Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ARSA Arg5Trp R5W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SHANK3 Ser1582Arg S1582R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SHANK3 Val1587Gly V1587G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C3ORF20 Gln728Shift Q728Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TGFBR2 Pro154Shift P154Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SCN5A Phe1950Leu F1950L not reviewed Insufficiently evaluated not reviewed unknown Array rs41311117 23 10124 0.00227183 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NBEAL2 Glu1925Shift E1925Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - COL7A1 Arg2791Trp R2791W not reviewed Insufficiently evaluated not reviewed unknown Array 18 10754 0.0016738 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - COL7A1 Arg1379Cys R1379C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SFMBT1 Ser736Shift S736Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CCDC66 Asp5Shift D5Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs72430164 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ACOX2 Thr154Shift T154Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34391522 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FOXP1 Asn558Shift N558Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - CPOX Met131Val M131V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - PCLD Val458Ile V458I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - -4 - 2 N - - B3GNT5 Trp13Shift W13Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM43A Ala336Shift A336Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TFRC Ile262Shift I262Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HTT Phe3011Ser F3011S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - HTT Lys3018Arg K3018R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - AASDH Ile167Shift I167Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GRSF1 Thr123Shift T123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HADH Gln152His Q152H not reviewed Insufficiently evaluated not reviewed unknown Array rs1051519 31 10758 0.00288158 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -1 - 3 N - - FGA Ser215Shift S215Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - STOX2 Asn766Shift N766Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PDCD6 Gln33Shift Q33Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM134B Arg91Shift R91Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM134B Ala83Val A83V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CDH10 Tyr730Shift Y730Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MAP1B Asp983Shift D983Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HEXB Ser47Gly S47G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CRHBP Arg55Shift R55Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AP3B1 Glu678Thr E678T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - VCAN Ile508Asn I508N not reviewed Insufficiently evaluated not reviewed unknown Array 32 10758 0.00297453 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - RASA1 Ala148Ser A148S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -1 - 2 N - - GPR98 Ala123Shift A123Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - GPR98 Asn1646Lys N1646K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - FBXL17 Arg51Shift R51Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FBN2 Pro326Ser P326S not reviewed Insufficiently evaluated not reviewed unknown Array rs28763954 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - NPY6R Asp205Shift D205Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MATR3 Ala665Gly A665G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - C5ORF40 Gly212Shift G212Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PROP1 Pro196Leu P196L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TUBB2B Ser413Asn S413N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - TUBB2B Glu412Thr E412T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - ATXN1 Ser287Shift S287Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - ZNF204P Lys6Shift K6Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs34125661 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TCF19 Ala25Shift A25Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GPANK1 Ala111Shift A111Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HLA-DQA1 Trp71Leu W71L not reviewed Insufficiently evaluated not reviewed unknown Array rs1142328 1480 9546 0.155039 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 2 N - - HLA-DQA1 Glu73Leu E73L not reviewed Insufficiently evaluated not reviewed unknown Array rs12722061 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - SYNGAP1 Val866Leu V866L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 0 - 2 N - - DEF6 Ala341Shift A341Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FANCE Gly79Cys G79C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - MTCH1 Thr116Shift T116Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PEX6 Thr64Ala T64A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - USP45 Val665Shift V665Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TUBE1 Asn14Shift N14Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LAMA2 Asp978Gly D978G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - SNORA33 Leu86Shift L86Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - STX11 GlnPhe18ArgVal QF18RV not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - SYNE1 Thr6822Ser T6822S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - C7ORF50 Ala155Shift A155Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DNAH11 Arg3004Gln R3004Q not reviewed Insufficiently evaluated not reviewed unknown Array rs35865357 137 10144 0.0135055 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - DNAH11 Arg3587His R3587H not reviewed Insufficiently evaluated not reviewed unknown Array rs34879202 110 9706 0.0113332 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - GLI3 Val891Ala V891A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CALCR Ile198Shift I198Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SERPINE1 Gln44Shift Q44Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - KCP His313Shift H313Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs68069895 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCP Ala16Shift A16Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs112748667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - NR_002144 Leu77Shift L77Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TRIM24 Tyr256Shift Y256Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PRSS1 Cys206Ser C206S not reviewed Insufficiently evaluated not reviewed unknown Array 77 10758 0.00715746 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 3 - 2 N - - PRSS1 Gln209Glu Q209E not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - -2 - 2 N - - CLCN1 TyrAsp686CysTyr YD686CY not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - KCNH2 Gly184Asp G184D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ATG9B Ala765Shift A765Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs56128050 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SHH Gly290Val G290V not reviewed Insufficiently evaluated not reviewed unknown Array rs104894047 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - SHH Gly210Asp G210D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - FZD3 Thr297Shift T297Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ANK1 Arg281Ser R281S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - Y 3 - 2 N - - SLURP1 Ala88Thr A88T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Ala1842Thr A1842T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEC Leu1200Pro L1200P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DOCK8 Leu1738Pro L1738P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA2026 Arg267Shift R267Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - VPS13A Ile1657Tyr I1657Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 4 Y 2 N - - SPIN1 Ala17Shift A17Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - SVEP1 Lys3383Shift K3383Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - DFNB31 Pro676Arg P676R not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - SPTAN1 Ala1284Shift A1284Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs117614529 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK094914 Met25Shift M25Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71759303 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK094914 Cys16Shift C16Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71679000 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AK094914 Ala13Shift A13Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs71682823 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - LHX3 Gly350Ser G350S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - LHX3 Asp346Shift D346Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - SLC34A3 Gly264Ser G264S not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - NELF His133Shift H133Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF674 Arg201Stop R201X not reviewed Insufficiently evaluated not reviewed unknown Array 40 7664 0.00521921 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DGKK Leu1014Shift L1014Shift not reviewed Insufficiently evaluated not reviewed unknown Array rs11415594 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FAM58A Gln15Shift Q15Shift not reviewed Insufficiently evaluated not reviewed unknown Array 27 0 54 0 0 - - - - 5 Y - - - - - - Y - - - - Y - 4 Y 3 N - - Although a frameshift allele of this gene would be expected to produce STAR syndrome (OMIM 300707), the many PGP individuals homozygous or hemizygous for a frameshift allele of FAM58A suggests an error in the reference assembly. FAM58A Gly4Shift G4Shift not reviewed Insufficiently evaluated not reviewed unknown Array 28 0 56 0 0 - - - - 5 Y - - - - - - Y - - - - Y - 4 Y 3 N - - Although a frameshift allele of this gene would be expected to produce STAR syndrome (OMIM 300707), the many PGP individuals homozygous or hemizygous for a frameshift allele of FAM58A suggests an error in the reference assembly. AK293878 Lys92Thr K92T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NCRNA00115 Pro100Leu P100L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SAMD11 Asp426Gly D426G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF170 Pro39His P39H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TTLL10 Leu265Arg L265R not reviewed Insufficiently evaluated not reviewed unknown Array 11 10714 0.00102669 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TNFRSF4 Glu45Asp E45D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SDF4 Asp213Gly D213G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PUSL1 Ala12Gly A12G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF70 Arg138Leu R138L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLCH2 His1386Pro H1386P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC47 Leu418Arg L418R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RERE AspLys10Del DK10Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1ORF127 Pro599His P599H not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C1ORF167 Arg223Trp R223W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_201628 Thr604Met T604M not reviewed Insufficiently evaluated not reviewed unknown Array 8 10154 0.000787866 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPHA2 Asp33His D33H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C1ORF144 Pro84Leu P84L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MST1P9 His282Arg H282R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MST1P9 Ser152Gly S152G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CROCC Glu568Lys E568K not reviewed Insufficiently evaluated not reviewed unknown Array 3 10738 0.000279381 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PADI3 Glu238Gly E238G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - RNF186 Gln111Arg Q111R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIF17 Arg11Ser R11S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - USP48 Ala2Asp A2D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZBTB40 Glu20Stop E20X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - E2F2 His379Arg H379R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TMEM222 Arg208Trp R208W not reviewed Insufficiently evaluated not reviewed unknown Array 103 10758 0.00957427 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OPRD1 Asn33Ser N33S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC104455 Met99Thr M99T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - A3GALT2 Ala281Gly A281G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DLGAP3 Ala768Pro A768P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLFNL1 Arg229Pro R229P not reviewed Insufficiently evaluated not reviewed unknown Array 15 10758 0.00139431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM125 Ala146Ser A146S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIAA0467 Glu129Gly E129G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLK3 Thr61Ala T61A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAAH Met283Val M283V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TAL1 Ala106Thr A106T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FOXE3 Ser300Gly S300G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - BEND5 Leu200Pro L200P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DMRTA2 Leu508Pro L508P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DMRTA2 Ala103Gly A103G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C1ORF185 Gln84Stop Q84X not reviewed Insufficiently evaluated not reviewed unknown Array 18 3226 0.00557966 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NRD1 Glu154Del E154Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - L1TD1 ProSerGlyLeuGluGluGluGluGluGlu410Del PSGLEEEEEE410Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IL12RB2 Pro704Leu P704L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC44A5 Leu618Phe L618F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MSH4 Asn319Tyr N319Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SYDE2 His113Arg H113R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - GBP6 Met355Arg M355R not reviewed Insufficiently evaluated not reviewed unknown Array 33 10758 0.00306748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NBPF4 Val499Ile V499I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GPSM2 Ser525Del S525Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CEPT1 Ile120Val I120V not reviewed Insufficiently evaluated not reviewed unknown Array 100 10758 0.00929541 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CTTNBP2NL Met97Leu M97L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MAGI3 Gly1318Asp G1318D not reviewed Insufficiently evaluated not reviewed unknown Array 294 7820 0.0375959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SYCP1 Glu877Lys E877K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDIA3P Arg20Leu R20L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BCL9 Met1211Ile M1211I not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ACP6 Arg218Trp R218W not reviewed Insufficiently evaluated not reviewed unknown Array 131 10758 0.012177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ANXA9 Met108Val M108V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TCHH Cys1401Arg C1401R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TCHH Pro625Arg P625R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HRNR HisArg2748GlnHis HR2748QH not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HRNR Tyr2746His Y2746H not reviewed Insufficiently evaluated not reviewed unknown Array 2264 8762 0.258388 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - IVL Glu84Gln E84Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SPRR3 Val133Asp V133D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DCST2 Arg632His R632H not reviewed Insufficiently evaluated not reviewed unknown Array 84 10750 0.00781395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EFNA3 ValGlyProGly71Del VGPG71Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SCAMP3 Asp6Asn D6N not reviewed Insufficiently evaluated not reviewed unknown Array 126 10758 0.0117122 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - HCN3 Thr171Pro T171P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MEX3A Leu118Ile L118I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MEF2D Glu479Gly E479G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IQGAP3 Arg524Trp R524W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PRCC Ala17Pro A17P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - ITLN2 Tyr303Stop Y303X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DUSP12 Glu159Gly E159G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ILDR2 Gly453Val G453V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ABL2 Gln331Arg Q331R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KIAA1614 Gly1022Val G1022V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM129A Val720Met V720M not reviewed Insufficiently evaluated not reviewed unknown Array 94 10758 0.00873768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LAD1 Val162Del V162Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PHLDA3 Ser48Ile S48I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GPR37L1 Trp64Arg W64R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF116 Ser462Pro S462P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RPS6KC1 Arg341Gly R341G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - IARS2 Val679Ile V679I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MOSC2 Ala247Gly A247G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAPN8 Glu575Lys E575K not reviewed Insufficiently evaluated not reviewed unknown Array 340 3234 0.105133 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ACBD3 Leu17Ser L17S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ITPKB GlySerSer94Del GSS94Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CDC42BPA Arg1608Cys R1608C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - JMJD4 Glu6Asp E6D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TRIM11 Glu202Leu E202L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1ORF198 Val106Leu V106L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTC13 Ser53Ala S53A not reviewed Insufficiently evaluated not reviewed unknown Array 82 4228 0.0193945 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - EGLN1 Pro187Thr P187T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TSNAX Asn17Ser N17S not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FMN2 Gly59Del G59Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CHML Ser563Cys S563C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ZNF670 Lys170Arg K170R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PFKP Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD16 Cys43Arg C43R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBXO18 Arg1013Cys R1013C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBXO18 Cys1014Arg C1014R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C10ORF47 Glu96Asp E96D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DHTKD1 Glu647Gly E647G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C10ORF113 Ser31Pro S31P not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SPAG6 Lys100Gln K100Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ANKRD26 Ala17Arg A17R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FZD8 Ala563Val A563V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF33A Lys116Glu K116E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AGAP7 Glu440Lys E440K not reviewed Insufficiently evaluated not reviewed unknown Array 750 6402 0.117151 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - C10ORF27 Ile314Val I314V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM25A Val35Leu V35L not reviewed Insufficiently evaluated not reviewed unknown Array 154 3234 0.047619 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM22A Lys47Glu K47E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM22A Val662Asp V662D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HTR7 Arg26Leu R26L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HECTD2 Thr735Asn T735N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FGFBP3 Pro157Ala P157A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FRA10AC1 Leu55Met L55M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - TMEM20 Ala143Thr A143T not reviewed Insufficiently evaluated not reviewed unknown Array 2 10756 0.000185942 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PIPSL Ser852Gly S852G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PIPSL Glu222Lys E222K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PIPSL Gln218Arg Q218R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NOC3L Tyr134Asn Y134N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF518A Lys724Gln K724Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RRP12 Glu1064Del E1064Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PI4K2A Arg328Gln R328Q not reviewed Insufficiently evaluated not reviewed unknown Array 62 10758 0.00576315 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ENTPD7 Pro197Leu P197L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CWF19L1 Gly400Val G400V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPRC1 Gly187Val G187V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PPRC1 His1356Gln H1356Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - INA GlnAla247HisSer QA247HS not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PDCD11 Ala674Val A674V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLK Ile549Met I549M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLK Asn714His N714H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC147 Arg696Cys R696C not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SORCS3 Ile977Thr I977T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MXI1 Asp235Val D235V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NHLRC2 Glu453Gly E453G not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - HSPA12A Glu365Gly E365G not reviewed Insufficiently evaluated not reviewed unknown Array 123 9466 0.0129939 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KNDC1 Arg455Trp R455W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TUBGCP2 Ala809Thr A809T not reviewed Insufficiently evaluated not reviewed unknown Array 225 10758 0.0209147 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PAOX Asp459Glu D459E not reviewed Insufficiently evaluated not reviewed unknown Array 31 10736 0.00288748 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - B4GALNT4 Ser627Pro S627P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SIGIRR Ser80Tyr S80Y not reviewed Insufficiently evaluated not reviewed unknown Array 262 10754 0.024363 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LRRC56 Arg81Pro R81P not reviewed Insufficiently evaluated not reviewed unknown Array 169 10758 0.0157092 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C11ORF35 Arg175Leu R175L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPS8L2 Val521Gly V521G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MUC6 ProProPro1569LeuThrThr PPP1569LTT not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC6 Trp5Cys W5C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MRPL23 Asp141Glu D141E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR51G2 Arg307Stop R307X not reviewed Insufficiently evaluated not reviewed unknown Array 7 10758 0.000650678 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OR52N4 Tyr170Ser Y170S not reviewed Insufficiently evaluated not reviewed unknown Array 241 10712 0.0224981 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM160A2 Glu852Gly E852G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNHD1 Glu2703Del E2703Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TAF10 Ala46Ser A46S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y -1 - 3 N - - GVINP1 Arg596Lys R596K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - STK33 Trp307Stop W307X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - USP47 Asp26His D26H not reviewed Insufficiently evaluated not reviewed unknown Array 126 9532 0.0132186 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - INSC Arg541Cys R541C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10218 0.000195733 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SOX6 Leu140Val L140V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_026750 His317Arg H317R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SPTY2D1 Ser253Phe S253F not reviewed Insufficiently evaluated not reviewed unknown Array 26 10758 0.00241681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC15 Asp157Asn D157N not reviewed Insufficiently evaluated not reviewed unknown Array 100 10756 0.00929714 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF408 Asp248Gly D248G not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTPMT1 Met1Thr M1T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PTPMT1 Thr19Ala T19A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNBP4 ThrThr58Del TT58Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FNBP4 Arg12Gly R12G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OR8U8 IleSer109MetAla IS109MA not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - OR8U8 Phe153Ile F153I not reviewed Insufficiently evaluated not reviewed unknown Array 33 10416 0.0031682 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BTBD18 Thr276Ile T276I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MPEG1 Val150Ile V150I not reviewed Insufficiently evaluated not reviewed unknown Array 9 9706 0.000927261 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - MPEG1 Phe10Leu F10L not reviewed Insufficiently evaluated not reviewed unknown Array 5 10074 0.000496327 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM132A Val64Gly V64G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CD6 Leu62Arg L62R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C11ORF9 Gln11Arg Q11R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EML3 Arg269His R269H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC88B Gln427Arg Q427R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SAC3D1 Arg260Cys R260C not reviewed Insufficiently evaluated not reviewed unknown Array 84 10262 0.00818554 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EHBP1L1 Ile694Thr I694T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PCNXL3 Trp1897Arg W1897R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SIPA1 Cys609Stop C609X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SNX32 Gln342Pro Q342P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC85B Ser155Gly S155G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CCDC85B Gly156Ala G156A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - RIN1 Met412Ile M412I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZDHHC24 Val279Gly V279G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ACTN3 Arg870Cys R870C not reviewed Insufficiently evaluated not reviewed unknown Array 16 9970 0.00160481 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C11ORF80 Gln20Arg Q20R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RCE1 Ser310Arg S310R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SYT12 Met404Thr M404T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRGPRF Gln300Gly Q300G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP5-9 Cys47Arg C47R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - KRTAP5-11 Cys111Tyr C111Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NUMA1 Arg972Gln R972Q not reviewed Insufficiently evaluated not reviewed unknown Array 101 10758 0.00938836 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PDE2A Cys262Trp C262W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LIPT2 Ala53Val A53V not reviewed Insufficiently evaluated not reviewed unknown Array 175 1686 0.103796 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - DGAT2 Gly250Asp G250D not reviewed Insufficiently evaluated not reviewed unknown Array 12 10758 0.00111545 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRKRIR Ile111Thr I111T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM181B Gly368Val G368V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM181B Val205Gly V205G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C11ORF82 Arg191Lys R191K not reviewed Insufficiently evaluated not reviewed unknown Array 23 10758 0.00213794 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - SYTL2 Asp491His D491H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RAB38 Pro195Thr P195T not reviewed Insufficiently evaluated not reviewed unknown Array 66 10758 0.00613497 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1731 Pro783Ala P783A not reviewed Insufficiently evaluated not reviewed unknown Array 5 3234 0.00154607 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AASDHPPT Asn154Lys N154K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALKBH8 Phe333Leu F333L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EXPH5 Ser736Pro S736P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ANKK1 Tyr573Stop Y573X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SIDT2 Asp32Gly D32G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - VPS11 Leu83Pro L83P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SORL1 Glu270Lys E270K not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKNOX2 Glu447Del E447Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TEAD4 Pro322Ser P322S not reviewed Insufficiently evaluated not reviewed unknown Array 342 10758 0.0317903 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AKAP3 Arg599Gln R599Q not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - IFFO1 Val155Gly V155G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GPR162 Arg212Met R212M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRB4 Glu17Gly E17G not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WBP11 Pro455Leu P455L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PDE3A Ala353Asp A353D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SLCO1B1 Phe276Leu F276L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C12ORF35 Pro281Del P281Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C1QL4 Phe230Leu F230L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KCNH3 Leu935Gln L935Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LASS5 Ala36Asp A36D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM186A Arg2174Stop R2174X not reviewed Insufficiently evaluated not reviewed unknown Array 14 3234 0.004329 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM186A Ala1720Ser A1720S not reviewed Insufficiently evaluated not reviewed unknown Array 13 3234 0.00401979 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MAP3K12 Thr37Pro T37P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CALCOCO1 Gly561Val G561V not reviewed Insufficiently evaluated not reviewed unknown Array 98 10758 0.0091095 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HOXC9 Glu224Gly E224G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF385A Leu235Val L235V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCKAP1L Pro939Ser P939S not reviewed Insufficiently evaluated not reviewed unknown Array 14 10758 0.00130136 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GDF11 Leu110Pro L110P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PAN2 SerLeu665GluIle SL665EI not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - STAT2 Gln826His Q826H not reviewed Insufficiently evaluated not reviewed unknown Array 95 10758 0.00883064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - GPR182 Leu245Pro L245P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MBD6 Leu849Ile L849I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - PIP4K2C Asp45Gly D45G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AGAP2 Ser175Asn S175N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MARCH9 Ser98Arg S98R not reviewed Insufficiently evaluated not reviewed unknown Array 4 8826 0.000453206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C12ORF61 Leu29Pro L29P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DYRK2 Pro543His P543H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NAV3 Leu2174Pro L2174P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - EPYC Ile228Arg I228R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BTG1 Thr39Ala T39A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC41 Lys150Stop K150X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CCDC41 Asn149Tyr N149Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STAB2 Ser1027Pro S1027P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC016335 Arg88His R88H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ALDH1L2 Glu331Val E331V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - APLP2 Lys70Arg K70R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - FICD Val27Ala V27A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SH2B3 Leu58Val L58V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH2B3 Asp234Asn D234N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LHX5 Gly372Arg G372R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KSR2 Arg525Gln R525Q not reviewed Insufficiently evaluated not reviewed unknown Array 89 10218 0.00871012 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RFC5 Lys319Asn K319N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - P2RX7 Arg578Gln R578Q not reviewed Insufficiently evaluated not reviewed unknown Array 23 10634 0.00216287 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SETD1B Ala440Pro A440P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZCCHC8 Asp380Glu D380E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DNAH10 Arg3699Cys R3699C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10580 9.4517e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RIMBP2 Phe1050Leu F1050L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EP400 Asn71Ser N71S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EP400 Val2954Ile V2954I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NOC4L Arg17Leu R17L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GALNT9 Val248Ile V248I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZMYM2 Ser36Gly S36G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MIPEP Leu17Arg L17R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SPATA13 Val904Ile V904I not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - FAM123A Gly17Cys G17C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ATP8A2 Ser1150Tyr S1150Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SHISA2 Gln20Pro Q20P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MTUS2 Pro996Leu P996L not reviewed Insufficiently evaluated not reviewed unknown Array 121 9876 0.0122519 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C13ORF26 Ser80Pro S80P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NAA16 Lys285Arg K285R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CTAGE11P Arg136Thr R136T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLITRK5 Leu815Pro L815P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TGDS Ala172Cys A172C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SOX21 Leu248Pro L248P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IPO5 Phe229Leu F229L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ARGLU1 Ser93Ile S93I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IRS2 Pro829Thr P829T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IRS2 Thr191Ala T191A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - UPF3A Glu98Gly E98G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CCNB1IP1 Leu118Pro L118P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNASE4 Arg38Trp R38W not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MRPL52 Phe9Leu F9L not reviewed Insufficiently evaluated not reviewed unknown Array 44 10754 0.0040915 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDH24 Leu130Pro L130P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ZFHX2 Gly1481Asp G1481D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IRF9 Ser187Arg S187R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RABGGTA Arg534Ser R534S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - HECTD1 Glu2309Lys E2309K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BAZ1A Gly806Val G806V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - WDHD1 Thr473Ala T473A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EXOC5 Glu9Gly E9G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C14ORF135 Met98Arg M98R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KCNH5 Met447Val M447V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TMEM229B Phe144Ser F144S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PAPLN Ser472Gly S472G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HEATR4 Gly864Glu G864E not reviewed Insufficiently evaluated not reviewed unknown Array 223 10758 0.0207288 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMED10 His73Pro H73P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK311049 GlyGlyAsp24Del GGD24Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SETD3 Thr240Ser T240S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HHIPL1 Tyr448His Y448H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - SLC25A47 GlnThr124ArgPro QT124RP not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RAGE Asp238Gly D238G not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RCOR1 Ser92Tyr S92Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C14ORF73 Ala408Asp A408D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AHNAK2 Ala3528Leu A3528L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BCL8 Thr54Ile T54I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCL8 Phe22Leu F22L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BCL8 Phe19Leu F19L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLGA8IP Ile41Asn I41N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FMN1 Leu373Val L373V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y Y 0 - 3 N - - FSIP1 Asp324Asn D324N not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DISP2 Val1294Gly V1294G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EXD1 Ala122Gly A122G not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - JMJD7-PLA2G4B Gln881Arg Q881R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SPTBN5 Arg2707Gln R2707Q not reviewed Insufficiently evaluated not reviewed unknown Array 89 10610 0.00838831 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - EHD4 Asp57His D57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLA2G4F Leu458Phe L458F not reviewed Insufficiently evaluated not reviewed unknown Array 16 10756 0.00148754 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_026891 Cys11Gly C11G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GNB5 Ser292Thr S292T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TEX9 Tyr176Stop Y176X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TCF12 Gly141Arg G141R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAM63B Ser528Asn S528N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C2CD4B Trp78Arg W78R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAB8B Gln130Glu Q130E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NM_001163692 Ala158Thr A158T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PDCD7 Leu60Pro L60P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - UACA Thr51Met T51M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PKM2 Pro28Leu P28L not reviewed Insufficiently evaluated not reviewed unknown Array 45 10754 0.00418449 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GOLGA6A Pro667Thr P667T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - UBE2Q2 MetAla147IleAsp MA147ID not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_027024 Leu125Gln L125Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIAA1024 Pro828Leu P828L not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIAA1199 Glu928Gly E928G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MESDC1 Arg273Pro R273P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMC3 Met516Thr M516T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BNC1 Asn348Ser N348S not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTSL3 Thr1569Ile T1569I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - WDR73 AspGlyThrArgSerGln315Del DGTRSQ315Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIF7 Glu979Ala E979A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - LRRK1 Asp66Gly D66G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DDX11L9 Gln85His Q85H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NPRL3 Ser14Asn S14N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AXIN1 Leu396Arg L396R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRPL28 His27Cys H27C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MRPL28 Arg23Ser R23S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C16ORF11 Arg106Trp R106W not reviewed Insufficiently evaluated not reviewed unknown Array 41 9684 0.00423379 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FAM195A Gln151Pro Q151P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - STUB1 Ser109Asn S109N not reviewed Insufficiently evaluated not reviewed unknown Array 33 10744 0.00307148 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NARFL Arg59Gln R59Q not reviewed Insufficiently evaluated not reviewed unknown Array 30 10756 0.00278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CCDC154 Ala570Gly A570G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CASKIN1 Cys173Gly C173G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - E4F1 Arg167Pro R167P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF200 Arg392Gln R392Q not reviewed Insufficiently evaluated not reviewed unknown Array 289 10758 0.0268637 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUDT16L1 Ile44Val I44V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKS3 His486Pro H486P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TEKT5 Lys430Glu K430E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TEKT5 Glu371Gln E371Q not reviewed Insufficiently evaluated not reviewed unknown Array 10 10758 0.00092954 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C16ORF75 Leu117Pro L117P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - THUMPD1 Asn298Lys N298K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EEF2K Arg374His R374H not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HS3ST4 Ala145Asp A145D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SRCAP Gly1091Val G1091V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SRCAP Gln2769Arg Q2769R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ORAI3 Leu61Pro L61P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SETD1A Arg1201Gln R1201Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - STX1B Thr177Pro T177P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYST1 Pro51Gln P51Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSDAP1 Phe97Val F97V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BC117243 Gly282Arg G282R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MYLK3 Glu514Gly E514G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ABCC11 SerGly585ArgGlu SG585RE not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TOX3 Leu519Met L519M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MMP15 Pro27Ser P27S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CES2 Leu390Arg L390R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - B3GNT9 Val222Gly V222G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - BC007896 Thr43Pro T43P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ELMO3 Leu740Gln L740Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEKHG4 Ser956Gly S956G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 2 - 2 N - - CR600589 Pro179Ser P179S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SNTB2 Gly102Asp G102D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SNTB2 Ala182Val A182V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NFAT5 Ser1192Pro S1192P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PDPR Ile47Val I47V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ST3GAL2 Asp107Gly D107G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HYDIN Ala2308Val A2308V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DHX38 Ser969Phe S969F not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC037579 Thr153Ser T153S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TERF2IP Ser43Ala S43A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TERF2IP Cys87Ser C87S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MON1B Leu257Pro L257P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SYCE1L Pro210Thr P210T not reviewed Insufficiently evaluated not reviewed unknown Array 1012 3214 0.314872 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 0 N - - MAF His249Pro H249P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ATMIN Thr541Ile T541I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLCG2 His257Leu H257L not reviewed Insufficiently evaluated not reviewed unknown Array 283 9938 0.0284766 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OSGIN1 Val540Ala V540A not reviewed Insufficiently evaluated not reviewed unknown Array 185 10708 0.0172768 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TAF1C Leu421Met L421M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - KIAA0182 Met1205Thr M1205T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_026674 Phe72Ser F72S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MAP1LC3B Ile23Thr I23T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AX747306 Thr124Met T124M not reviewed Insufficiently evaluated not reviewed unknown Array 354 3228 0.109665 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - AK023048 Thr73Ala T73A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK023048 Met76Val M76V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DPEP1 Met1Arg M1R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - DEF8 Cys384Trp C384W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK302511 His61Pro H61P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SGSM2 Leu467Pro L467P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - OR1D4 Stop172Arg X172R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - GGT6 Val290Met V290M not reviewed Insufficiently evaluated not reviewed unknown Array 16 10748 0.00148865 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PELP1 ThrVal879ArgPhe TV879RF not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VMO1 Asp55Val D55V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - MINK1 Asp967Asn D967N not reviewed Insufficiently evaluated not reviewed unknown Array 133 10622 0.0125212 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KIF1C Leu664Pro L664P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C1QBP Met1Arg M1R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NLRP1 Cys911Ser C911S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BCL6B Glu85Gly E85G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TMEM102 Ala467Gly A467G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - WDR16 Gly263Asp G263D not reviewed Insufficiently evaluated not reviewed unknown Array 22 10758 0.00204499 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MYH13 Glu1299Asp E1299D not reviewed Insufficiently evaluated not reviewed unknown Array 47 10144 0.00463328 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - HS3ST3A1 Ser284Asn S284N not reviewed Insufficiently evaluated not reviewed unknown Array 166 7282 0.0227959 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NCOR1 Thr1449Pro T1449P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF287 Phe377Ile F377I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF624 His221Asn H221N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SREBF1 Val937Gly V937G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EPN2 Leu280Pro L280P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RNF112 Leu575Ala L575A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ALDH3A1 His290Pro H290P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CYTSB Asp769Asn D769N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FLOT2 Ile259Val I259V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - RAB11FIP4 Gly523Asp G523D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C17ORF102 Arg88Gly R88G not reviewed Insufficiently evaluated not reviewed unknown Array 411 9504 0.043245 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRCIN1 Gln72Arg Q72R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNB1 Pro25His P25H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - STAC2 Leu105Pro L105P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK12 Ser1236Arg S1236R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KRTAP4-8 Ser93Arg S93R not reviewed Insufficiently evaluated not reviewed unknown Array 240 3204 0.0749064 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - KRTAP4-5 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KRTAP4-5 GlnThr82ArgPro QT82RP not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NT5C3L Arg252Trp R252W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TTC25 Glu98Gly E98G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - KAT2A Ser57Gly S57G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ATP6V0A1 Ile567Thr I567T not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CCR10 Arg242Ser R242S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - AOC3 Arg353Cys R353C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - C1QL1 Thr121Ala T121A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLCD3 Ala50Gly A50G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3D20 Ala237Asp A237D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TBX21 Tyr108Cys Y108C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PPP1R9B Val358Gly V358G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EPX Cys257Stop C257X not reviewed Insufficiently evaluated not reviewed unknown Array 96 10758 0.00892359 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - BZRAP1 Ala1201Asp A1201D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PPM1E Gly95Ser G95S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PPM1E Ala106Val A106V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GDPD1 Lys287Ile K287I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MRC2 SerIle275ArgSer SI275RS not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - PLEKHM1P Pro104Thr P104T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_027283 Glu252Val E252V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C17ORF54 Leu24Phe L24F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TTYH2 Ser32Arg S32R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - KIF19 Ala57Del A57Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BTBD17 Ala398Pro A398P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GRIN2C Glu1230Leu E1230L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CASKIN2 Glu816Lys E816K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TRIM65 Leu162Pro L162P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TMC6 Leu753Pro L753P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AK057217 Arg190Gly R190G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CARD14 Ser200Asn S200N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC38A10 Tyr69Stop Y69X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - TSPAN10 Ala40Ser A40S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TSPAN10 Glu41Stop E41X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ANKRD12 Ser450Pro S450P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSG1 Arg386His R386H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DSG1 Ile739Val I739V not reviewed Insufficiently evaluated not reviewed unknown Array 64 10758 0.00594906 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TRAPPC8 Leu526Pro L526P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KLHL14 Asp83Ala D83A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - C18ORF34 LeuAsp600ArgAsn LD600RN not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C18ORF34 Asn302Lys N302K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ASXL3 Val911Met V911M not reviewed Insufficiently evaluated not reviewed unknown Array 9 9622 0.000935356 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZSCAN30 Ser395Gly S395G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - GALNT1 Leu26Pro L26P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MEX3C AlaAlaAla182Del AAA182Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - AK301799 Gly161Val G161V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RNF126 Ala124Thr A124T not reviewed Insufficiently evaluated not reviewed unknown Array 137 10584 0.0129441 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTBP1 Gln441Arg Q441R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - WDR18 Pro335Ala P335A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ABCA7 Ser1428Leu S1428L not reviewed Insufficiently evaluated not reviewed unknown Array 1 10752 9.3005e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCSK4 Met514Thr M514T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - REEP6 Val140Gly V140G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - DOT1L Leu511Gln L511Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - LINGO3 Pro448Arg P448R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CELF5 Gln144Arg Q144R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C19ORF77 Thr67Ile T67I not reviewed Insufficiently evaluated not reviewed unknown Array 58 3234 0.0179344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EEF2 Thr779Ala T779A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZBTB7A Glu249Ala E249A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLIN4 Ala844Leu A844L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PLIN4 GlnAsnIle841LysThrVal QNI841KTV not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLIN4 Lys838Asp K838D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PLIN4 GlyLeu836SerVal GL836SV not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLIN4 Ala832Thr A832T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - C19ORF10 Asn9His N9H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PLIN3 Ala224Ser A224S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - KDM4B Tyr897Stop Y897X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PRR22 Val258Leu V258L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BC171868 Asp89Glu D89E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SH2D3A Val396Ile V396I not reviewed Insufficiently evaluated not reviewed unknown Array 8 9148 0.000874508 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EMR1 Ser872Stop S872X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - EMR4P Tyr169Asn Y169N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - EMR4P Val15Ile V15I not reviewed Insufficiently evaluated not reviewed unknown Array 2054 3234 0.635127 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - BC150497 Leu66Arg L66R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MAP2K7 Tyr283Ser Y283S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - MUC16 Ala12694Pro A12694P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PDE4A Pro837Leu P837L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KANK2 Leu640Pro L640P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DOCK6 Lys147Asn K147N not reviewed Insufficiently evaluated not reviewed unknown Array 115 10026 0.0114702 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF799 Lys258Del K258Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BEST2 Thr55Ala T55A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FARSA Ala90Val A90V not reviewed Insufficiently evaluated not reviewed unknown Array 156 10758 0.0145008 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MRI1 Leu57His L57H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DM119432 His54Arg H54R not reviewed Insufficiently evaluated not reviewed unknown Array 2926 7818 0.374265 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - NR_024282 Val198Ala V198A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - UNC13A Val94Gly V94G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FCHO1 Leu696Pro L696P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAST3 Ser1183Asn S1183N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ELL Ala74Val A74V not reviewed Insufficiently evaluated not reviewed unknown Array 56 10752 0.00520833 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C19ORF60 Thr5Ala T5A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ATP13A1 Thr129Ser T129S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZNF506 His80Arg H80R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF676 SerIle189ArgVal SI189RV not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - RGS9BP Asp143Glu D143E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TDRD12 Thr942Met T942M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FFAR3 Val256Ala V256A not reviewed Insufficiently evaluated not reviewed unknown Array 1065 7298 0.14593 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - LRFN3 Arg281His R281H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF790 Val12Ile V12I not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ZNF829 Ser41Ala S41A not reviewed Insufficiently evaluated not reviewed unknown Array 5 10542 0.000474293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - WDR87 Ser204Del S204Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CATSPERG Val16Ala V16A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CATSPERG Phe136Asn F136N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SPRED3 Ser128Del S128Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SAMD4B Ala402Thr A402T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLEKHG2 Ser169Asn S169N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FCGBP Leu5305Phe L5305F not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BLVRB Met98Leu M98L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - CCDC97 Asn156Thr N156T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CD79A Gln222Glu Q222E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - LIPE Val1019Ala V1019A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PLAUR Cys137Arg C137R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF283 GluMet139Del EM139Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF284 Ser124Del S124Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CBLC Ala6Pro A6P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - NKPD1 Ser52Phe S52F not reviewed Insufficiently evaluated not reviewed unknown Array 70 3206 0.0218341 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - IRF2BP1 Glu40Gly E40G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GRLF1 Ala892Thr A892T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10048 9.9522e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC9 Glu445Del E445Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EHD2 Leu79Pro L79P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - GLTSCR2 Ala383Val A383V not reviewed Insufficiently evaluated not reviewed unknown Array 55 6302 0.00872739 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LMTK3 Leu79Pro L79P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - FUT1 Pro341Leu P341L not reviewed Insufficiently evaluated not reviewed unknown Array 4 10758 0.000371816 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLEKHA4 Arg343Gln R343Q not reviewed Insufficiently evaluated not reviewed unknown Array 15 10708 0.00140082 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NUCB1 Arg87Gln R87Q not reviewed Insufficiently evaluated not reviewed unknown Array 246 10758 0.0228667 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NTF4 Arg140Cys R140C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SNRNP70 Ser268Shift S268Shift not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - AP2A1 Phe977Ser F977S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AKT1S1 Pro77His P77H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TARM1 Ser37Pro S37P not reviewed Insufficiently evaluated not reviewed unknown Array 28 3234 0.00865801 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TTYH1 Val90Ile V90I not reviewed Insufficiently evaluated not reviewed unknown Array 38 10724 0.00354345 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - LENG9 Thr38Met T38M not reviewed Insufficiently evaluated not reviewed unknown Array 5 2130 0.00234742 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LENG9 Gly8Arg G8R not reviewed Insufficiently evaluated not reviewed unknown Array 75 5428 0.0138172 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - EPS8L1 Ser342Ala S342A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TMEM86B Met101Arg M101R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NM_001144950 Thr1182Ser T1182S not reviewed Insufficiently evaluated not reviewed unknown Array 361 3234 0.111626 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - NM_001144950 Thr1183Met T1183M not reviewed Insufficiently evaluated not reviewed unknown Array 362 3234 0.111936 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 0 N - - NM_001144950 His1186Gln H1186Q not reviewed Insufficiently evaluated not reviewed unknown Array 343 3234 0.106061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001144950 His1294Tyr H1294Y not reviewed Insufficiently evaluated not reviewed unknown Array 319 3234 0.0986395 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - NM_001144950 Pro1311Ala P1311A not reviewed Insufficiently evaluated not reviewed unknown Array 2 3234 0.000618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001144950 Tyr1312Asp Y1312D not reviewed Insufficiently evaluated not reviewed unknown Array 20 3234 0.00618429 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NM_001144950 Pro1456Ser P1456S not reviewed Insufficiently evaluated not reviewed unknown Array 529 3234 0.163575 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - EPN1 Thr556Pro T556P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF444 Glu143Val E143V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF471 Asp104Gly D104G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZNF154 His57Arg H57R not reviewed Insufficiently evaluated not reviewed unknown Array 296 9798 0.0302102 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ZNF814 Ala158Val A158V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF256 Arg73Gln R73Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 10756 9.2971e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZSCAN1 Ser92Arg S92R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FAM150B Gln46His Q46H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MYT1L Glu167Del E167Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TTC15 Leu416Pro L416P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - KIDINS220 Ile152Lys I152K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CPSF3 Lys473Arg K473R not reviewed Insufficiently evaluated not reviewed unknown Array 52 10756 0.00483451 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - RHOB Thr141Met T141M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NM_001145710 Glu38Gln E38Q not reviewed Insufficiently evaluated not reviewed unknown Array 390 3232 0.120668 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 0 N - - ITSN2 Gln1285Arg Q1285R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KHK Val264Ile V264I not reviewed Insufficiently evaluated not reviewed unknown Array 17 10758 0.00158022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - GCKR Ser183Phe S183F not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GCKR Arg478His R478H not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EHD3 Leu374Met L374M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BIRC6 Ala1612Pro A1612P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - BIRC6 Ser2857Cys S2857C not reviewed Insufficiently evaluated not reviewed unknown Array 19 10758 0.00176613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BIRC6 Val4462Ile V4462I not reviewed Insufficiently evaluated not reviewed unknown Array 124 10758 0.0115263 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - CEBPZ Tyr544Ser Y544S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - THADA Ser1287Phe S1287F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - RPL23AP32 Ile40Asn I40N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BCL11A Ser398Arg S398R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - COMMD1 Arg120Trp R120W not reviewed Insufficiently evaluated not reviewed unknown Array 167 10758 0.0155233 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SLC1A4 Arg63Cys R63C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FBXO41 Ala225Glu A225E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MRPL53 Thr32Asn T32N not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC142 Pro690Leu P690L not reviewed Insufficiently evaluated not reviewed unknown Array 132 10758 0.0122699 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - TLX2 Gly111Stop G111X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - LRRTM1 Glu407Gly E407G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DNAH6 Arg1331His R1331H not reviewed Insufficiently evaluated not reviewed unknown Array 139 3234 0.0429808 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CAPG Leu80Gly L80G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SH2D6 Ala52Asp A52D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CIAO1 Glu96Gly E96G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - AK303423 Ala153Asp A153D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - AK303423 Cys132Arg C132R not reviewed Insufficiently evaluated not reviewed unknown Array 434 9386 0.0462391 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM131 Ile1123Val I1123V not reviewed Insufficiently evaluated not reviewed unknown Array 8 9846 0.000812512 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - C2ORF55 Asp614Gly D614G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MITD1 Glu172Lys E172K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - TBC1D8 Asp262Asn D262N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ST6GAL2 Ala297Thr A297T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - ANAPC1 Gly856Arg G856R not reviewed Insufficiently evaluated not reviewed unknown Array 41 10758 0.00381112 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZC3H6 Tyr588Cys Y588C not reviewed Insufficiently evaluated not reviewed unknown Array 37 9718 0.00380737 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNTNAP5 Arg1270Cys R1270C not reviewed Insufficiently evaluated not reviewed unknown Array 1 9978 0.00010022 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - SAP130 Ala264Val A264V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HS6ST1 Gly7Ser G7S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MZT2B Ala50Gly A50G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BC139742 Val731Ile V731I not reviewed Insufficiently evaluated not reviewed unknown Array 1484 10758 0.137944 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 0 N - - NR_002826 GluAsp560AspAsn ED560DN not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIF1 Asn635Lys N635K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - DAPL1 Arg105Stop R105X not reviewed Insufficiently evaluated not reviewed unknown Array 43 10758 0.00399703 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SLC4A10 Leu676Phe L676F not reviewed Insufficiently evaluated not reviewed unknown Array 1 9766 0.000102396 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - LRP2 Thr2811Ala T2811A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - TLK1 Gln440Stop Q440X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - MTX2 Tyr149Stop Y149X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SSFA2 Ala36Gly A36G not reviewed Insufficiently evaluated not reviewed unknown Array 159 10564 0.0150511 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - BX647691 Tyr81Asn Y81N not reviewed Insufficiently evaluated not reviewed unknown Array 4844 9388 0.515978 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BX647691 Arg273Gln R273Q not reviewed Insufficiently evaluated not reviewed unknown Array 5148 9442 0.545223 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - BX647691 Arg458His R458H not reviewed Insufficiently evaluated not reviewed unknown Array 5208 9530 0.546485 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - BX647691 Leu663Gln L663Q not reviewed Insufficiently evaluated not reviewed unknown Array 1914 9502 0.201431 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 0 N - - BOLL Asn116His N116H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AOX1 Gln966Stop Q966X not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NBEAL1 Pro1391Leu P1391L not reviewed Insufficiently evaluated not reviewed unknown Array 21 9862 0.00212939 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABI2 Met350Val M350V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - UNC80 Thr1311Ile T1311I not reviewed Insufficiently evaluated not reviewed unknown Array 31 3234 0.00958565 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - C2ORF67 Asn492Thr N492T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - LANCL1 Val251Ala V251A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TTLL4 Tyr123Stop Y123X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SPEG Ser573Gly S573G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KCNE4 Gly28GlySer G28GS not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SPATA3 Asp88Asn D88N not reviewed Insufficiently evaluated not reviewed unknown Array 16 3234 0.00494743 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ALPPL2 Glu437Lys E437K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - USP40 Arg581Gln R581Q not reviewed Insufficiently evaluated not reviewed unknown Array 318 9698 0.0327903 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HEATR7B1 Pro271Leu P271L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_024322 Ala56Asp A56D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KIF1A Glu446Gln E446Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DEFB132 ValLeu7Del VL7Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SOX12 Leu136Arg L136R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ZNF343 Thr458Met T458M not reviewed Insufficiently evaluated not reviewed unknown Array 34 10758 0.00316044 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SIGLEC1 Asn730Thr N730T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PAK7 Ser15Cys S15C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - GZF1 Asp550Ala D550A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CST5 Leu11His L11H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - TPX2 Leu372Gln L372Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ASXL1 Leu302His L302H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CEP250 Ala1323Thr A1323T not reviewed Insufficiently evaluated not reviewed unknown Array 108 10758 0.010039 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FAM83D Arg187His R187H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - R3HDML Asp68Asn D68N not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - C20ORF123 Asp483Asn D483N not reviewed Insufficiently evaluated not reviewed unknown Array 1 3234 0.000309214 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - ZNF217 Glu977Stop E977X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - OGFR Ala535Ile A535I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - OGFR Leu25Trp L25W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - COL20A1 Pro1146Leu P1146L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PPDPF Gln100Pro Q100P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ZBTB46 Asp32Ala D32A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABCC13 Val36Ala V36A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HSPA13 Ala176Val A176V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KRTAP19-6 Arg45Cys R45C not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - HUNK Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - GCFC1 Gly39Arg G39R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CLIC6 Pro275Arg P275R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SIK1 Gly760Arg G760R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PDXK Val214Met V214M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - C21ORF29 Thr473Ser T473S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KRTAP10-5 Pro30His P30H not reviewed Insufficiently evaluated not reviewed unknown Array 323 10750 0.0300465 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KRTAP12-2 Pro112Ser P112S not reviewed Insufficiently evaluated not reviewed unknown Array 66 10590 0.00623229 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DIP2A Val1072Gly V1072G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CECR6 Gln553Pro Q553P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CECR5 Leu10Pro L10P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - BID Leu93Pro L93P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C22ORF39 Ser5Ile S5I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TXNRD2 Met97Thr M97T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SCARF2 Ala691Pro A691P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - AK299734 Gly201Glu G201E not reviewed Insufficiently evaluated not reviewed unknown Array 145 1108 0.130866 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - CCDC116 Ala104Leu A104L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - IGLL1 Arg74Cys R74C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CYTSA Arg487His R487H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MYO18B Ser114Arg S114R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MN1 Pro789Thr P789T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NEFH Gly247Asp G247D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CCDC157 Gln421Arg Q421R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MORC2 Gln816Arg Q816R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RASD2 Asp180Glu D180E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - APOL6 Trp189Gly W189G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RBFOX2 Lys264Glu K264E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC42EP1 AsnProSerAlaProAlaAla258Del NPSAPAA258Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BAIAP2L2 Ser305Gly S305G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAFF Ser148Tyr S148Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - CBX6 Ala410Pro A410P not reviewed Insufficiently evaluated not reviewed unknown Array 38 10716 0.0035461 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SMCR7L Gln154Arg Q154R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CACNA1I Leu1501Arg L1501R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MKL1 Ser464Arg S464R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MKL1 Ser119Arg S119R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CHADL Gly264Trp G264W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - POLDIP3 Ala15Thr A15T not reviewed Insufficiently evaluated not reviewed unknown Array 90 10758 0.00836587 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNPLA3 Ser47Ala S47A not reviewed Insufficiently evaluated not reviewed unknown Array 3 10636 0.00028206 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RIBC2 Phe262Leu F262L not reviewed Insufficiently evaluated not reviewed unknown Array 5031 10758 0.467652 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - MOV10L1 Gln666Arg Q666R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NM_031454 Lys568Asn K568N not reviewed Insufficiently evaluated not reviewed unknown Array 1 10522 9.5038e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PLXNB2 Asp766His D766H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CNTN6 Ser745Leu S745L not reviewed Insufficiently evaluated not reviewed unknown Array 6 10758 0.000557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - OGG1 Ala85Ser A85S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - TTLL3 Lys663Glu K663E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - HDAC11 Arg148Cys R148C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - NR2C2 Thr80Ala T80A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SH3BP5 Ala20Thr A20T not reviewed Insufficiently evaluated not reviewed unknown Array 246 10418 0.023613 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - KAT2B Arg553His R553H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TOP2B Lys1164Ile K1164I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SLC4A7 Arg41Gly R41G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GOLGA4 Met2221Ile M2221I not reviewed Insufficiently evaluated not reviewed unknown Array 12 10756 0.00111566 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - XIRP1 Ser1836Arg S1836R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - XIRP1 Thr1534Met T1534M not reviewed Insufficiently evaluated not reviewed unknown Array 7 10748 0.000651283 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SEC22C Glu182Lys E182K not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM198A Arg14Gln R14Q not reviewed Insufficiently evaluated not reviewed unknown Array 35 3234 0.0108225 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANO10 Tyr327Cys Y327C not reviewed Insufficiently evaluated not reviewed unknown Array 60 10758 0.00557724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - LIMD1 Gln63Del Q63Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PTH1R His216Asn H216N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - - 0 - 1 N - - PTPN23 Val1260Gly V1260G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CSPG5 Ser231Ala S231A not reviewed Insufficiently evaluated not reviewed unknown Array 206 10758 0.0191485 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CELSR3 Ala2890Val A2890V not reviewed Insufficiently evaluated not reviewed unknown Array 18 10746 0.00167504 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARIH2 Glu29Del E29Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EPRS Arg154Gln R154Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - KLHDC8B Val26Ala V26A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - HYAL3 Arg143Gln R143Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GRM2 Val426Gly V426G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - RRP9 Thr238Pro T238P not reviewed Insufficiently evaluated not reviewed unknown Array 86 10758 0.00799405 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RRP9 Arg143Trp R143W not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABHD14A His175Pro H175P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SEMA3G Arg767Trp R767W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C3ORF63 Gln758Arg Q758R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DNAH12 Leu1031Val L1031V not reviewed Insufficiently evaluated not reviewed unknown Array 21 3234 0.00649351 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADAMTS9 Arg1175Ser R1175S not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - ADAMTS9 Phe69Ser F69S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - OR5H6 ValThrThr124Del VTT124Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA1524 Cys58Phe C58F not reviewed Insufficiently evaluated not reviewed unknown Array 208 10758 0.0193344 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PVRL3 Ser20Thr S20T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TMPRSS7 Thr486Asn T486N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - CCDC80 His473Tyr H473Y not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LSAMP Glu250Gly E250G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLA1A Phe104Leu F104L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - NR_024618 Leu39His L39H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - NR_024618 Arg110Gln R110Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GATA2 Gly101Cys G101C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PCOLCE2 Trp7Stop W7X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - CPB1 Arg195His R195H not reviewed Insufficiently evaluated not reviewed unknown Array 81 10758 0.00752928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TIPARP Gln424Arg Q424R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PTX3 Gln167Arg Q167R not reviewed Insufficiently evaluated not reviewed unknown Array 13 4916 0.00264443 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SI Trp962Stop W962X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SI Lys705Stop K705X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - SI Val172Leu V172L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - GOLIM4 His53Pro H53P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TNIK Glu907Ala E907A not reviewed Insufficiently evaluated not reviewed unknown Array 39 9750 0.004 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - VWA5B2 Leu541Trp L541W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - TMEM44 Gly31Ser G31S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - FAM43A Gln299Arg Q299R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC4 Asp3797Asn D3797N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MUC4 Ala2249Val A2249V not reviewed Insufficiently evaluated not reviewed unknown Array 12 3208 0.00374065 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MUC4 Pro2050Leu P2050L not reviewed Insufficiently evaluated not reviewed unknown Array 87 3200 0.0271875 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MUC4 Pro1760Ser P1760S not reviewed Insufficiently evaluated not reviewed unknown Array 212 3234 0.0655535 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 0 N - - MUC4 Gln1757His Q1757H not reviewed Insufficiently evaluated not reviewed unknown Array 387 3232 0.11974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MUC4 Ala1750Thr A1750T not reviewed Insufficiently evaluated not reviewed unknown Array 101 3230 0.0312693 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - MUC4 Thr574Ile T574I not reviewed Insufficiently evaluated not reviewed unknown Array 205 10046 0.0204061 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - MFSD7 Ala493Val A493V not reviewed Insufficiently evaluated not reviewed unknown Array 94 8568 0.0109711 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - SLC26A1 Asp174Ala D174A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZFYVE28 Val577Met V577M not reviewed Insufficiently evaluated not reviewed unknown Array 3 10756 0.000278914 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - FAM193A Ile1315Val I1315V not reviewed Insufficiently evaluated not reviewed unknown Array 353 10758 0.0328128 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - TNIP2 Glu255Lys E255K not reviewed Insufficiently evaluated not reviewed unknown Array 187 10758 0.0173824 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ADRA2C Cys394Gly C394G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PSAPL1 Ala41Ser A41S not reviewed Insufficiently evaluated not reviewed unknown Array 1189 10050 0.118308 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - SH3TC1 Val623Met V623M not reviewed Insufficiently evaluated not reviewed unknown Array 1 10166 9.8367e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX746755 His155Leu H155L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - BOD1L Gly2751Asp G2751D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BC010030 Ser90Ala S90A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - PCDH7 Pro22Leu P22L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - NR_027277 Ile211Val I211V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - NR_027277 Cys188Phe C188F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC30A9 Leu282Phe L282F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC10A4 Gly148Ala G148A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK095318 Ala464Val A464V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CEP135 Leu128Pro L128P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF40 Ala156Ser A156S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - UTP3 Glu105Del E105Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ADAMTS3 Met213Val M213V not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CXCL5 Val23Gly V23G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CDKL2 Leu133Stop L133X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - PPEF2 Ser686Asn S686N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD56 PheLeu13LeuVal FL13LV not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - BMP2K Ala860Thr A860T not reviewed Insufficiently evaluated not reviewed unknown Array 63 10136 0.00621547 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HELQ Ile371Val I371V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - WDFY3 Glu446Gly E446G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DSPP Asn503Lys N503K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - SEC24B Ser325Stop S325X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - NDST4 Ile283Val I283V not reviewed Insufficiently evaluated not reviewed unknown Array 80 10758 0.00743633 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - AX746903 Gln107Arg Q107R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AX746903 Gln107Del Q107Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TRPC3 Cys243Phe C243F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - RNF150 Asp54Gly D54G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FBXW7 Lys326Stop K326X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - KIAA0922 Thr64Ser T64S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - TLR2 Leu212Phe L212F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DDX60L Gly442Cys G442C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C4ORF27 Arg9Gly R9G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - WDR17 Ile423Thr I423T not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CDKN2AIP Ala242Del A242Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C4ORF41 Val828Ala V828A not reviewed Insufficiently evaluated not reviewed unknown Array 92 10758 0.00855177 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MTNR1A Leu8Arg L8R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FAT1 Ser1168Leu S1168L not reviewed Insufficiently evaluated not reviewed unknown Array 33 9614 0.00343249 1 0 1 0 0 - - - - - - - - - - - - - - - - - Y - 6 Y 2 N - - CDH6 Ile476Leu I476L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MTMR12 Asp206Asn D206N not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - RAD1 Thr104Ser T104S not reviewed Insufficiently evaluated not reviewed unknown Array 161 10758 0.0149656 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y -2 - 2 N - - SPEF2 Met1267Leu M1267L not reviewed Insufficiently evaluated not reviewed unknown Array 12 9770 0.00122825 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - C6 Gln380Arg Q380R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDC20B Arg307Trp R307W not reviewed Insufficiently evaluated not reviewed unknown Array 42 10758 0.00390407 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - PLK2 Cys456Trp C456W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - DQ575504 Tyr178His Y178H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - MSH3 Gly900Cys G900C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C5ORF36 Arg451Gly R451G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GIN1 Thr507Phe T507F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - GIN1 Gln506Glu Q506E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FBXL17 Leu594Pro L594P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MAN2A1 Ser1026Del S1026Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SHROOM1 Thr17Ala T17A not reviewed Insufficiently evaluated not reviewed unknown Array 4 9724 0.000411353 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PITX1 Pro36Thr P36T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - HARS2 Glu338Gly E338G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PCDHB9 Pro448Thr P448T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PCDHB9 Ala449Pro A449P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - LARS Lys82Arg K82R not reviewed Insufficiently evaluated not reviewed unknown Array 35 10758 0.00325339 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - PPARGC1B Pro475His P475H not reviewed Insufficiently evaluated not reviewed unknown Array 18 10658 0.00168887 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - HMGXB3 Glu203Lys E203K not reviewed Insufficiently evaluated not reviewed unknown Array 26 3234 0.00803958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - CDHR2 Asn689Ser N689S not reviewed Insufficiently evaluated not reviewed unknown Array 63 10758 0.00585611 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SLC34A1 Gly344Asp G344D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WRNIP1 GlyAspGlyAsp174Del GDGD174Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C6ORF145 Asp47Gly D47G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - BMP6 Ser169Ala S169A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM8A1 Ala162Pro A162P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KDM1B Val140Ala V140A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KDM1B Ser579Gly S579G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MBOAT1 Phe412Leu F412L not reviewed Insufficiently evaluated not reviewed unknown Array 165 10758 0.0153374 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - E2F3 Asp446Asn D446N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM65B Phe353Ser F353S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ABT1 Asn246Ser N246S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZNF204P Trp209Stop W209X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - ZNF204P Glu93Gln E93Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - OR2W1 Ala32Thr A32T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - HLA-F Arg121Trp R121W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF136 Tyr19His Y19H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DPCR1 Glu899Lys E899K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PSORS1C2 Pro30Ala P30A not reviewed Insufficiently evaluated not reviewed unknown Array 5 7488 0.000667735 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRRC2A Gly1416Ser G1416S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - C4A Cys1121Ser C1121S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NOTCH4 LeuLeuLeuLeu13Del LLLL13Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PSMB9 Arg48His R48H not reviewed Insufficiently evaluated not reviewed unknown Array 1872 7522 0.24887 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - ITPR3 Ser1276Tyr S1276Y not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF76 Asp477Asn D477N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DEF6 Arg340Gly R340G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DEF6 Lys357Glu K357E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - DAAM2 Arg633Trp R633W not reviewed Insufficiently evaluated not reviewed unknown Array 6 9812 0.000611496 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CUL9 Gly958Del G958Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - SLC25A27 Met1Leu M1L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - DST Ser2854Ile S2854I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - BC144585 Asp118Asn D118N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - LGSN Leu314Ser L314S not reviewed Insufficiently evaluated not reviewed unknown Array 18 10758 0.00167317 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C6ORF57 Arg57Cys R57C not reviewed Insufficiently evaluated not reviewed unknown Array 5 10758 0.00046477 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - TMEM30A Ile359Val I359V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - IBTK Ser10Pro S10P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NT5E Ala5Gly A5G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PNRC1 Ser112Asn S112N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MDN1 Asp3304Asn D3304N not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - POU3F2 His53Pro H53P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - SCML4 Arg337Trp R337W not reviewed Insufficiently evaluated not reviewed unknown Array 84 3234 0.025974 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - MICAL1 Glu380Lys E380K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ZBTB24 Asp558Asn D558N not reviewed Insufficiently evaluated not reviewed unknown Array 27 10758 0.00250976 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - CDK19 Asp240Glu D240E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - MARCKS Pro47Ser P47S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DSE Gln57Pro Q57P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FAM26F Ala28Ser A28S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - FAM184A Leu700Pro L700P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SAMD3 Asp285Asn D285N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - NR_015397 Val62Met V62M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MAP3K5 Thr1314Ile T1314I not reviewed Insufficiently evaluated not reviewed unknown Array 118 10758 0.0109686 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC35D3 Leu101Met L101M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NMBR Ile167Val I167V not reviewed Insufficiently evaluated not reviewed unknown Array 28 10758 0.00260271 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - HIVEP2 Arg1642Trp R1642W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C6ORF103 Thr460Ser T460S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - NOX3 Ala198Thr A198T not reviewed Insufficiently evaluated not reviewed unknown Array 185 10758 0.0171965 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - FNDC1 Pro28His P28H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FNDC1 Ala1154Val A1154V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MAP3K4 Ser785Arg S785R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - BRP44L Leu34Ile L34I not reviewed Insufficiently evaluated not reviewed unknown Array 232 10758 0.0215653 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - FAM20C Arg558Trp R558W not reviewed Insufficiently evaluated not reviewed unknown Array 162 3234 0.0500928 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - FAM20C Asn564Asp N564D not reviewed Insufficiently evaluated not reviewed unknown Array 1587 3234 0.490724 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - MICALL2 Ser153Phe S153F not reviewed Insufficiently evaluated not reviewed unknown Array 111 10616 0.0104559 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ELFN1 Trp10Gly W10G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - SDK1 His583Asp H583D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - FOXK1 Gly433Phe G433F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FSCN1 Thr125Pro T125P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - FSCN1 Ser410Asn S410N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PMS2CL Lys79Arg K79R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - MEOX2 HisHis79Del HH79Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - EVX1 Glu137Asp E137D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - DPY19L2P1 Cys427Trp C427W not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK13 LeuLeu43GlnPro LL43QP not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CDK13 Ile1374Thr I1374T not reviewed Insufficiently evaluated not reviewed unknown Array 8 10758 0.000743632 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - POLR2J4 Thr229Met T229M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CAMK2B Pro514Leu P514L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - IGFBP3 Trp9Arg W9R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C7ORF57 Pro173Leu P173L not reviewed Insufficiently evaluated not reviewed unknown Array 16 9960 0.00160643 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ABCA13 Lys442Glu K442E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ABCA13 Arg2484Lys R2484K not reviewed Insufficiently evaluated not reviewed unknown Array 62 9546 0.00649487 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ABCA13 Asn4277Asp N4277D not reviewed Insufficiently evaluated not reviewed unknown Array 1857 10290 0.180466 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 0 N - - COBL Glu481Del E481Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - TYW1B Arg372Trp R372W not reviewed Insufficiently evaluated not reviewed unknown Array 854 3234 0.264069 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 0 N - - STAG3L3 Met97Val M97V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA3C Arg165Cys R165C not reviewed Insufficiently evaluated not reviewed unknown Array 2 10758 0.000185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CROT Ile371Val I371V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - ANKIB1 Asp183Gly D183G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - LMTK2 Ser1401Asn S1401N not reviewed Insufficiently evaluated not reviewed unknown Array 130 10758 0.012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MBLAC1 Glu195Gly E195G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MEPCE Glu114Asp E114D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - GIGYF1 Gln573Arg Q573R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MUC17 Val2763Met V2763M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - VGF Gly248Val G248V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - CUX1 Glu1362Gly E1362G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CUX1 Pro1383Leu P1383L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - LRRC17 Leu220Met L220M not reviewed Insufficiently evaluated not reviewed unknown Array 55 10676 0.00515174 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - ORC5 Tyr367Cys Y367C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - SRPK2 Pro47Del P47Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - MDFIC Gly19Val G19V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ASZ1 Gln323Lys Q323K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SND1 Ala65Val A65V not reviewed Insufficiently evaluated not reviewed unknown Array 13 10758 0.0012084 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PRRT4 Glu578Gly E578G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRRT4 Gln575Pro Q575P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - PRRT4 Pro41Ala P41A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NR_002144 AspAspAspPheGlu68Del DDDFE68Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - NR_002144 SerGlu75Pro SE75P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KLHDC10 Gly29Glu G29E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PLXNA4 Pro869His P869H not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NR_001296 Ala8Thr A8T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_001296 Gly11Ala G11A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NR_001296 Arg224Asn R224N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ZNF282 Arg563Cys R563C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - ZNF212 Gly188Arg G188R not reviewed Insufficiently evaluated not reviewed unknown Array 20 10758 0.00185908 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - GIMAP2 Cys299Ser C299S not reviewed Insufficiently evaluated not reviewed unknown Array 5 10754 0.000464943 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - TMEM176B Ser18Thr S18T not reviewed Insufficiently evaluated not reviewed unknown Array 113 10758 0.0105038 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - C7ORF13 Ala36Pro A36P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - NOM1 Arg608His R608H not reviewed Insufficiently evaluated not reviewed unknown Array 72 10758 0.00669269 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - PTPRN2 Ser776TrpLys S776WK not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF42 Lys3Thr K3T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - CSMD1 Asp3476Glu D3476E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - CSMD1 Asn1498Ser N1498S not reviewed Insufficiently evaluated not reviewed unknown Array 953 9534 0.099958 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - ANGPT2 Ala311Val A311V not reviewed Insufficiently evaluated not reviewed unknown Array 30 10758 0.00278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - DEFA4 Ala19Glu A19E not reviewed Insufficiently evaluated not reviewed unknown Array 218 10758 0.020264 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - NM_001080826 Ser243Leu S243L not reviewed Insufficiently evaluated not reviewed unknown Array 28 10038 0.0027894 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - DQ580909 Asp196Gly D196G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CHMP7 AspTrp48GlyGly DW48GG not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - ADRA1A Ile200Ser I200S not reviewed Insufficiently evaluated not reviewed unknown Array 189 10758 0.0175683 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - WRN LysLeu965AsnPhe KL965NF not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - - Y 1 - 2 N - - ZNF703 Trp460Leu W460L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZNF703 Cys467Arg C467R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EIF4EBP1 Gly24Val G24V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - IKBKB Ile314Thr I314T not reviewed Insufficiently evaluated not reviewed unknown Array 1 10758 9.2954e-05 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - SLC20A2 Lys415Glu K415E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRKDC Gly3403Glu G3403E not reviewed Insufficiently evaluated not reviewed unknown Array 137 10104 0.013559 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PRKDC Asp3215Glu D3215E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - SOX17 Ala238Val A238V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - ARFGEF1 Ser1575Thr S1575T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - ZFHX4 Ile1698Leu I1698L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - RALYL Ile54Met I54M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - REXO1L1 Asn240Ser N240S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PKHD1L1 Pro1247Gln P1247Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - CSMD3 Asp2417Asn D2417N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - COL14A1 Thr813Met T813M not reviewed Insufficiently evaluated not reviewed unknown Array 9 10758 0.000836586 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - COL14A1 Pro1655Thr P1655T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - WISP1 Tyr100Asp Y100D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - C8ORF55 Asp75Ala D75A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ZC3H3 Ser881Del S881Del not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - C8ORF73 Val176Gly V176G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - FAM83H Lys705Ala K705A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - EPPK1 Arg2215Ser R2215S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - EPPK1 Asp2213Met D2213M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - EPPK1 Gln811Arg Q811R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - AL137446 Leu87Pro L87P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - AL137446 Val209Asp V209D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - AL137446 Arg372Pro R372P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FBXL6 Thr467Pro T467P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIFC2 Gly309Glu G309E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ARHGAP39 Glu562Val E562V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - KANK1 Ile18Val I18V not reviewed Insufficiently evaluated not reviewed unknown Array 148 10758 0.0137572 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - KIAA0020 Met568Lys M568K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ERMP1 Gly63Asp G63D not reviewed Insufficiently evaluated not reviewed unknown Array 29 6718 0.00431676 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - KIAA2026 Pro19Ala P19A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - MPDZ Arg1170Leu R1170L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - MPDZ Gly1168Ser G1168S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - PSIP1 Arg351Gln R351Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SH3GL2 Gln15Glu Q15E not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - KIAA1797 IleThrAla444MetSerPro ITA444MSP not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - KIAA1797 Ala871Val A871V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - TLN1 Glu2409Gly E2409G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - PAX5 Gln233Arg Q233R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - ANKRD18B Tyr688Cys Y688C not reviewed Insufficiently evaluated not reviewed unknown Array 1085 3202 0.338851 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 0 N - - ANKRD18B Glu130Lys E130K not reviewed Insufficiently evaluated not reviewed unknown Array 1351 3234 0.417749 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FAM201A Gln115Stop Q115X not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - FAM75A6 Gly364Arg G364R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - CNTNAP3B Glu137Val E137V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - ANKRD20A3 Thr76Ala T76A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AK122718 Cys405Tyr C405Y not reviewed Insufficiently evaluated not reviewed unknown Array 5 4586 0.00109027 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FOXB2 Ala153Asp A153D not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM75D1 Ser938Tyr S938Y not reviewed Insufficiently evaluated not reviewed unknown Array 39 9666 0.00403476 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - FAM75C1 Leu712Phe L712F not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - SEMA4D Leu500Met L500M not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BICD2 Arg795Leu R795L not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF6 Thr21Ala T21A not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - EPB41L4B Val73Met V73M not reviewed Insufficiently evaluated not reviewed unknown Array 564 6906 0.0816681 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 0 N - - FKBP15 Val992Gly V992G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 8 Y 1 N - - PAPPA Ser944Arg S944R not reviewed Insufficiently evaluated not reviewed unknown Array 145 10758 0.0134783 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - DQ573668 Lys32Thr K32T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHF19 Asn360Lys N360K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - TRAF1 Lys193Arg K193R not reviewed Insufficiently evaluated not reviewed unknown Array 3 10758 0.000278862 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - NCRNA00287 Ala80Pro A80P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - CRB2 Gly287Cys G287C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - CIZ1 Gln63Pro Q63P not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ODF2 Arg98His R98H not reviewed Insufficiently evaluated not reviewed unknown Array 45 10758 0.00418293 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - AL834139 Arg902Gln R902Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - PRDM12 Arg315Gly R315G not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - C9ORF167 Leu340Gln L340Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NELF Ile404Val I404V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - PNPLA7 Gly1148Glu G1148E not reviewed Insufficiently evaluated not reviewed unknown Array 7 10756 0.000650799 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ASMT Ser202Thr S202T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - -2 - 1 N - - UBE2DNL Lys206Arg K206R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - -3 - 1 N - - BEX1 Leu60Val L60V not reviewed Insufficiently evaluated not reviewed unknown Array 1 8761 0.000114142 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - MORC4 Glu221Lys E221K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 0 - 1 N - - RBMXL3 Gly236Ala G236A not reviewed Insufficiently evaluated not reviewed unknown Array 156 2334 0.066838 1 0 2 0 0 - - - - - - - - - - - - - - - - - - - 1 - 0 N - - IL9R Gly331Arg G331R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - ERCC6 Cys61Shift C61Shift pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 5 5 3 Y - - 0 Y - - 5 Y 1 Y Y - - - - Y Y 4 Y 4 N 2 0 Predicts a severely disruptive frameshift in the ERCC6 gene, also known as CSB. No known reports exist for this variant, other disruptive variants are reported to cause Cockayne Syndrome B in a recessive manner. This severe disease is characterized by poor growth, progressive neurological dysfunction, and (in most cases) photosensitivity. Notably, there is also a report of a patient homozygous for a very disruptive variant early in the protein (R77X) who did not have Cockayne Syndrome, only a syndrome of UV-sensitivity (see Horibata 2004). MUT Ala477Gly A477G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BRAF Glu501Val E501V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - GENE Ala123Cys A123C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 2 - 1 N - - Not a real Variant DRD2 Pro310Ser P310S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - 2 Y - - - - - - - - Y - - - - Y Y 3 - 3 N - - Similar functional effects to http://evidence.personalgenomes.org/DRD2-S311C FANCI Tyr283Stop Y283X pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 3 Y - - 0 Y 0 Y 4 - 3 - Y - - - - Y Y 10 Y 4 N 2 0 Although there are no known publications regarding this variant, this severe nonsense mutation would be predicted to cause Fanconi Anemia, complementation group I in a recessive manner. not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - 1 Y - - - - 0 - - - - - - - - - - - - 0 N - - PRDM9 has been shown to influence genetic recombination; the minor allele of this variant (G) has been associated with reduced recombination. not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 2 2 - - 2 Y - - - - 0 Y - - - - - - - - - - - 0 N - - Affects the recombination rate in hotspots. not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 4 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - - - 0 N - - SHANK3 Gly1528Shift G1528Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BRCA2 Phe1866Shift F1866Shift pathogenic High clinical importance, pathogenic unknown Array rs80359524 1 0 1 0 0 4 Y 0 - 0 - 4 Y 4 Y 3 - Y - - - - Y Y 4 Y 4 N 2 2 This frameshift introduces a premature stop codon. Frameshifts in the BRCA2 tumor-suppressing gene region are considered pathogenic (see "Discussion" -> "Novel Mutations" subsection in http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583621/). COLQ Ser245Shift S245Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - PKD1 Ser246Shift S246Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - SNCA Ala69Shift A69Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CFTR Phe508Del F508Del pathogenic High clinical importance, pathogenic recessive Array 0 0 0 2 0 1 - 2 Y 5 Y - - 4 - 1 - Y - - - - Y Y 4 Y 3 N 2 2 This is the most common variant that causes Cystic Fibrosis. It causes Cystic Fibrosis if homozygous or combined with another severely disruptive variant in this gene. It can also cause bilateral absence of the vans deferens (causing male infertility) when combined with a less disruptive variant. not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - - - 0 N - - CACNA1A Glu917Asp E917D not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - CMAH Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 1 1 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - This is a pseudogene; variants are of no consequence. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - TNXB Trp458Cys W458C not reviewed Insufficiently evaluated not reviewed unknown Array rs4959086 9 0 13 0 0 1 Y - - - - - - - - - - Y - - - - - Y 7 Y 2 N - 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However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. 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- - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - CCDC40 Ala83Shift A83Shift pathogenic High clinical importance, pathogenic recessive Array 1 0 1 2 0 4 - 1 - 5 - - - 4 - 3 - - - - - - - - 4 Y 2 N 2 2 Causes primary ciliary dyskinesia in a recessive manner. Becker-Heck et al. report seeing this homozygously twice and heterozygously four times in patients from 24 families. Antony et al. report this variant accounts for 69% of disease mutations found in patients of North European ancestry. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - 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According to Yen, et al. this is the most well-studied variant causing that deficiency. This causes increased sensitivity to choline esters and certain other drugs. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 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0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - NCF1C His66Arg H66R not reviewed Insufficiently evaluated not reviewed unknown Array rs13447 2 0 2 1 1 - - - - - - - - - - - - - - - - - - - 1 - 1 N - - NCF1C is a pseudogene; sequence variation has no consequence. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - CFTR Arg75Gln R75Q not reviewed Insufficiently evaluated not reviewed unknown Array rs1800076 2 0 2 3 3 1 Y 1 Y - - - - - - - - Y - - - - Y Y 0 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - SERPINA6 Leu115His L115H pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array rs113418909 1 0 1 0 0 - - 2 Y - - 0 Y 2 - 3 - - - - - - - - 6 Y 1 N 1 0 Reported to cause corticosteroid deficiency in a recessive fashion, a disease which can cause fatigue after exertion. This variant was reported by Van Baelen et al 1982 (PMID: 7061486), and recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000018495/). Van Baelen et al described this variant as "transcortin Leuven", who reported the variant protein product had 3.6-fold reduced affinity for cortisol at 28C. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 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- - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - ALLC Phe75Ser F75S not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 2 2 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - The activity of uric acid degrading enzymes was lost during vertebrate evolution. Mammals lack functional allantoicase. The human allantoicase gene is transcribed, but the mRNA lacks a continuous open reading frame. Mutations are therefore of no consequence. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - 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- - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - FLG Pro2391Asn P2391N not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 0 Y - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - PEX13 Val119Ile V119I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - NEB Val4120Ile V4120I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 0 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - TTN Pro20468Ser P20468S not reviewed Insufficiently evaluated not reviewed unknown Array rs55980498 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - TTN Arg7050Gly R7050G not reviewed Insufficiently evaluated not reviewed unknown Array rs72648982 1 0 1 0 0 0 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - OBSL1 Glu1217Lys E1217K not reviewed Insufficiently evaluated not reviewed unknown Array rs72957510 1 0 1 0 0 0 Y - - - - - - - - - - - - - - - - - 0 - 1 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - BTD Tyr414Shift Y414Shift not reviewed Insufficiently evaluated not reviewed recessive Array 1 0 1 3 3 2 Y - - - - - - 4 Y 5 Y Y - - - - Y Y 4 Y 4 N - - The BTD-Y414Shift allele is a private allele discovered in the genome of PGP89, resulting from the addition of the sequence AAGG to a position in the genome with the sequence AAGGAAGG. It is expected to cause a complete loss of function of biotinidase. Biotinidase deficiency is typically identified as multiple carboxylase deficiency (MCD) by newborn screening and is easily treated with biotin supplementation. MLH1 Val716Met V716M benign Low clinical importance, Uncertain benign dominant Array rs35831931 1 1 1 6 3 1 Y 0 Y 0 Y - - 0 Y 0 Y Y - - - - Y Y 0 - MLH1-Related Hereditary Non-Polyposis Colon Cancer 10 1357 6 1212 1.489 3 N 0 0 Though mutations in MLH1 are usually associated with hereditary nonpolyposis colon cancer (HNPCC, or Lynch syndrome), this variant is likely a benign polymorphism; this conclusion is supported by functional evidence and the similar proportions of carriers among patients with Lynch syndrome and those among controls. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - MTRR Thr517Ala T517A not reviewed Insufficiently evaluated not reviewed recessive Array rs41283145 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - TNXB Lys2907Arg K2907R not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 1 1 1 Y - - - - - - - - - - Y - - - - - Y -3 - 2 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - KCNH2 Arg1047Leu R1047L not reviewed Insufficiently evaluated not reviewed other Array rs36210421 1 0 1 1 1 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - The KCNH2-R1047L allele is a rare variant found among controls not affected by long Q-T syndrome. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - NPR2 Ser37Shift S37Shift not reviewed Insufficiently evaluated not reviewed recessive Array 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - PTCH1 Gly1163Ser G1163S not reviewed Insufficiently evaluated not reviewed other Array rs113663584 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - DFNB31 Pro485Leu P485L not reviewed Insufficiently evaluated not reviewed unknown Array rs79572315 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - TSC1 Ser1043Del S1043Del not reviewed Insufficiently evaluated not reviewed dominant Array rs2234980 1 0 1 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - DBH Gly482Arg G482R not reviewed Insufficiently evaluated not reviewed recessive Array rs41316996 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - CDH23 Glu2585Gln E2585Q not reviewed Insufficiently evaluated not reviewed recessive Array rs41281338 1 0 1 0 0 0 Y - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - MLL2 Val1432Shift V1432Shift not reviewed Insufficiently evaluated not reviewed dominant Array 1 1 1 1 1 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - Nonsense or frameshift alleles of this gene are associated with the autosomal dominant disease Kabuki syndrome. As PGP89 is not affected, this is likely a sequencing error. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - SDS Val81Ile V81I not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - SACS Met1359Thr M1359T not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - SLX4 Glu1733Lys E1733K not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - - - - - - - - 0 - 1 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - UMOD Arg142Gln R142Q not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - CHRNB1 Leu7Pro L7P not reviewed Insufficiently evaluated not reviewed recessive Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - ITGB4 Arg977Cys R977C not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y 8 Y 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - MKKS Ile339Val I339V not reviewed Insufficiently evaluated not reviewed unknown Array 1 0 1 0 0 1 Y - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - HCCS Gly2Asp G2D not reviewed Insufficiently evaluated not reviewed dominant Array 1 0 2 1 1 1 Y - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - This variant is known to be benign. Loss of function alleles are male lethal in utero; PGP89 is a hemizygous male with the variant and is phenotypically normal. 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - 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0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - 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- - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - CFTR Phe1052Val F1052V pathogenic High clinical importance, Uncertain pathogenic recessive Array 1 0 1 0 0 - - - - 0 Y 0 Y 4 - 3 - Y - - - - Y Y 3 - 3 N 2 0 Reported to cause "nonclassic" cystic fibrosis, presumably in a recessive manner. This report comes from ClinVar, where it was reported by LabCorp: http://www.ncbi.nlm.nih.gov/clinvar/RCV000029520/ 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - 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- - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - 0 0 0 0 0 - - - - - - - - - - - - - - - - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 2 2 - - - - - - - - - - - - - - - - - - - - - 0 N - - pharmacogenetic Insufficiently evaluated pharmacogenetic unknown Array 0 0 0 1 1 - - - - 2 - - - - - - - - - - - - - - - - 0 N - - 390A-->G variant in T-bet gene (tbx21) is significantly associated with a risk of aspirin-induced asthma (AIA). not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 3 3 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 3 3 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - - - 0 N - - pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 1 - - - - - - 2 - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - - - 0 N - - CCR1 Arg307Gly R307G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 6 Y 1 N - - FECH Ala41Shift A41Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 2 2 - - - - - - - - - - - - - - - - - - - - - 0 N - - not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 1 - - - - - - - - - - - - - - - - - - - - - 0 N - - FBN1 Gly343Arg G343R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - TGFBR2 Val387Met V387M not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - COL3A1 Pro206Arg P206R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - PER3 His1020Gln H1020Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -1 - 1 N - - DHCR7 Gly387Shift G387Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - MYBPC3 Pro117Shift P117Shift not reviewed High clinical importance, Uncertain not reviewed dominant Array 0 0 0 0 0 5 - 0 Y 0 Y 0 Y 4 - 4 - Y - - - - Y Y 4 Y 4 N - - This is a disruptive variant which ClinVar reports causes hypertrophic cardiomyopathy (dbSNP ID: rs397516023). Many carriers are asymptomatic throughout their lives, but it can cause serious heart condition and sudden death. This condition may be treatable with cardiac monitoring, lifestyle changes, medication, and surgery. PMS2 Tyr268Shift Y268Shift not reviewed High clinical importance, Uncertain not reviewed dominant Array 0 0 0 0 0 5 - 0 Y 0 Y 0 Y 4 - 4 - Y - - - - Y Y 4 Y 4 N - - [Note: The PMS2 gene is prone to sequencing errors in exome and whole genome sequencing.] ClinVar reports this variant causes Lynch Syndrome, which greatly increases an individual's risk of colon cancer and other cancers. Affected individuals can be treated with more aggressive monitoring and treatment for colon cancer. COL6A3 Glu1386Lys E1386K benign Low clinical importance, Likely benign unknown Array 0 0 0 1 1 - - 0 - 5 Y 0 - - - - - Y - - - - Y Y 0 - 3 N 0 1 Reported likely cause for Bethlem Myopathy by a genetics testing lab, but the publication reporting this (Lampe, et al.) reported observations in patients that aren't different from the general allele frequency according to ExAC data (disproving a disease-causing hypothesis). SERPINA3 Pro252Ala P252A benign Low clinical importance, Likely benign unknown Array 0 0 0 2 0 - - - - 4 Y 2 Y - - - - - - - - - - - 2 - 1 N 0 1 An uncommon variant carried by about 1 in 100 Europeans. Claimed by Poller et al. 1993 to cause chronic obstructive pulmonary disease (COPD )in three generations of an affected family, implying a Mendelian hypothesis. Seifart, et al 2007 mentions that publication and states that the association was not replicated in Japanese, and that no association was found in a study of Italian cases. DSG2 Val56Met V56M benign Low clinical importance, Uncertain benign unknown Array 0 0 0 2 1 - - 0 Y 2 Y - - - - - - Y - - - - Y Y 0 - 3 N 0 0 Syrris, et al. 2007 reported this in one patient with arrhythmogenic right ventricular cardiomyopathy (ARVC) (no familial data), and implied a high penetrance hypothesis. Posch, et al. 2008 found it in 13 out of 538 patients with dilated cardiomyopathy (DCM), and only 3 of 617 control individuals (p = 0.009); while this may seem significant, the variant is far more common (carried by ~1 in 200) than the diseases ARVC (1 in 2000-5000) and DCM (1 in 2500). This disproves a high penetrance hypothesis, and Posch et al. merely speculate that the variant "may represent a ... susceptibility variant". (No later studies are published confirming this speculation.) VPS13B Asn2968Ser N2968S pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 0 - - - - 0 Y 1 - 4 - 1 - Y - - - - Y Y 0 - 3 N 2 0 According to Kolehmainen, et al 2004 this was seen homozygously in a pair of siblings from a family with Cohen syndrome, in a screen of 76 patients from 59 families. MYBPC3 Thr957Ser T957S benign Low clinical importance, Likely benign unknown Array 0 0 0 2 0 1 Y 0 - 5 Y - - - - - - Y - - - - Y Y -2 - 3 N 0 1 Ehlermann et al. 2008 reported seeing this in one hypertrophic cardiomyopathy case in a screen of 158 patients, and not in 430 controls (they reported it as novel). Similarly, Rodríguez-García et al. 2010 saw it once in 130 cases and not in 200 controls. However, ExAC data reports an allele frequency of 0.15% in Europeans – 1 in 330 carriers. Both reported findings are consistent with ExAC data (and not significantly different from it). If this variant played any causal role (even one with reduced, but notable penetrance), it would have been seen much more frequently in patients; as no such enrichment was found, the pathogenic hypothesis is strongly disproven. PLCD1 Ala574Thr A574T pathogenic Low clinical importance, Uncertain pathogenic dominant Array 0 0 0 1 0 - - - - 0 Y 2 Y 2 - 1 - - - - - - - - 1 - 1 N 0 0 Recorded as Ala553Thr by ClinVar, this variant was reported by Kiuru et al. 2011 to cause hereditary chalky, white "porcelian nails" in a dominant fashion. The authors reported finding it in an extended Pakistani family, where a DNA segment containing this variant was found to be very strongly linked to the condition. The variant wasn't found in 130 healthy Pakistani individuals used as controls. According to ExAC data this variant is fairly rare, with an allele frequency of 0.016% in European data (1 in 2750 people are carriers), and 0.1% in Finns (1 in 500 are carriers). AGBL1 Arg1028Stop R1028X pathogenic Low clinical importance, Uncertain pathogenic dominant Array 0 0 0 1 0 - - - - ! Y 2 Y 2 - 1 - - - - - - - - 10 Y 2 N 0 0 Despite a relatively high allele frequency, Riazuddin et al. 2013 reported finding it causing high penetrance Fuchs endothelial corneal dystrophy in a three generation family. The authors claimed that the allele frequency in the general population (1 in 330 Europeans are carriers) was not inconsistent with their hypothesis, as it is "considerably below" the >4% incidence of this late onset disease. Although the variant is rarer than the disease, the authors' hypothesis implies the variant accounts for a very significant fraction of the disease (>5%), and would be easily confirmed with case/control studies. The combination of a lack of confirming evidence, and relatively high allele frequency,appears to contradict the hypothesis proposed by Riazuddin et al. SCN5A Val789Ile V789I benign Low clinical importance, Likely benign unknown Array 0 0 0 1 0 1 Y - - 5 Y - - - - - - Y - - - - Y Y -4 - 3 N 0 1 Reported to cause Brugada syndrome (increased risk of sudden cardiac death), but the reported observation doesn't different from the variant's general allele frequency. Kapplinger et al. 2009 reported seeing this variant once in 2,111 patients and not in 1,300 controls. ExAC reports the variant present in 9 out of 33,201 individuals with European ancestry (1 in 3,700). This allele frequency indicates the reported observation was almost certainly coincidental as it is consistent with ExAC's allele frequency for the general population. Brugada syndrome is estimated to affect 1 in 2,000; if this variant were causal with any notable penetrance, it would be found in a large fraction of patients. Based on updated allele frequency information data, this hypothesis should be considered disproven. DHTKD1 Gly729Arg G729R pathogenic Low clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 0 - - - - 2 - 0 - 2 - 0 - - - - - - - - 6 Y 1 N 0 0 Danhauser et al. 2012 reported two individuals with aminoadipic aciduria, where this variant was found compound heterozygously in both. Although this variant's allele frequency is relatively high, it could be consistent with the proposed effect (recessive, and often asymptomatic). Additionally, the authors reported that the molecular cause of this metabolic issue was unknown as of their 2012 report, and there is no subsequent literature regarding this disease that confirms or contradicts their report. TYR Thr373Lys T373K pathogenic Moderate clinical importance, pathogenic recessive Array 0 0 0 4 0 2 Y - - 5 Y 3 Y 3 - 1 - Y - - - - Y Y 3 - 3 N 1 2 Numerous reports confirm this is a well-established cause of oculocutaneous albinism type 1 (recessive). Oetting, et al. 1991 reported this variant as compound heterozygous in one of three patients. Gershoni-Baruch, et al. 1994 found it compound heterozygous in 2 of 38 cases. Later studies further confirm variant, e.g. Hutton et al. 2008 (4 compound het carriers in 36 patients, PMID 18326704) and the same authors later found it heterozygous in 23 out of 121 patients (PMID 18463683). BRCA1 Asp1162ValShift D1162VShift pathogenic Insufficiently evaluated pathogenic dominant Array 0 0 0 3 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - ClinVar reports this variant to predispose carriers to early onset breast cancer, variant and fallopian tube cancer, and other cancers (http://www.ncbi.nlm.nih.gov/clinvar/variation/37531/). BRCA2 Ser1982ArgShift S1982RShift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 5 5 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - Increases risk for BRCA2-related Fanconi Anemia (Fanconi anemia complementary group D1), especially if found in compound heterozygosity with other BRCA2 deleterious variants. Slightly increases risk (by 9.2%) for early-onset breast cancer (investigated in Ashkenazi Jewish population). Slight increased risk for late-onset pancreatic cancer (7% in carriers versus 0.85% in the general population). BRCA2 Lys3084AsnShift K3084NShift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - Breast Cancer Information Core and Sharing Clinical Reports Project have submitted this variant to ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/variation/91519/ ) as 9252_9255delAACAinsTT. It is associated with early onset breast cancer. BRCA1 Val340GlyShift V340GShift not reviewed Insufficiently evaluated not reviewed dominant Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - BRCA1 Asp1162Shift D1162Shift pathogenic High clinical importance, pathogenic dominant Array 0 0 0 3 3 4 Y 0 - 0 - 4 Y 4 Y 3 - Y - - - - Y Y 4 Y 4 N 2 2 ClinVar reports this variant to predispose carriers to early onset breast cancer, variant and fallopian tube cancer, and other cancers (http://www.ncbi.nlm.nih.gov/clinvar/variation/37531/). BRCA2 Ser1982Shift S1982Shift pathogenic High clinical importance, pathogenic dominant Array 0 0 0 6 6 4 Y 0 - 0 - 4 Y 4 Y 3 - Y - - - - Y Y 4 Y 4 N 2 2 This is a "classic" founder mutation in the Ashkenazi jewish population. This mutation increases the average cumulative lifetime risk of breast cancer (in women) by 33%. (45% vs 12%) BRCA2 Lys3084Shift K3084Shift pathogenic High clinical importance, pathogenic dominant Array 0 0 0 0 0 4 Y 0 - 0 - 4 Y 4 Y 3 - Y - - - - Y Y 4 Y 4 N 2 2 Breast Cancer Information Core and Sharing Clinical Reports Project have submitted this variant to ClinVar ( http://www.ncbi.nlm.nih.gov/clinvar/variation/91519/ ) as 9252_9255delAACAinsTT. It is associated with early onset breast cancer. BRCA1 Val340Shift V340Shift pathogenic High clinical importance, pathogenic dominant Array 0 0 0 4 4 4 Y - - 0 - 4 Y 4 Y 3 - Y - - - - Y Y 4 Y 4 N 2 2 This variant predisposes carriers to early-onset breast and ovarian cancer as well as other cancers. This and other BRCA1 variants predispose towards estrogen receptor negative, progesterone receptor negative, and human epidermal growth factor receptor negative breast cancers. BRCA1 V340fs is found in ClinVar at http://www.ncbi.nlm.nih.gov/clinvar/variation/54102/ BRCA2 Asn1198Shift N1198Shift pathogenic High clinical importance, pathogenic unknown Array 0 0 0 0 0 4 Y 0 - 0 - 4 Y 4 Y 3 - Y - - - - Y Y 4 Y 4 N 2 2 This frameshift introduces a premature stop codon. Frameshifts in the BRCA2 tumor-suppressing gene region are considered pathogenic (see "Discussion" -> "Novel Mutations" subsection in http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583621/). C-KIT His650Arg H650R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - KIT His650Arg H650R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - COL6A3 Pro3082Arg P3082R pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 0 1 Y - - ! Y 1 - 4 - 3 - Y - - - - Y Y 5 Y 3 N 2 0 Reported to cause early-onset dystonia by Zech et al (PMID: 26004199). Seen compound heterozygous with another variant in two affected siblings. Notably, two homozygous "control" individuals with South Asian ancestry are reported in ExAC, potentially contradicting the hypothesized effect. LRRK2 Ala419Val A419V benign Low clinical importance, benign unknown Array 0 0 0 1 0 4 Y - - 4 Y - - - - - - Y - - - - Y Y 2 - 3 N 0 2 Reported to cause autosomal dominant Parkinson's disease. This report is recorded in ClinVar, submitted by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000032405/). However, one publication linked by ClinVar, Di Fonzo 2006 (PMID: 16633828) found the variant with equal frequency in cases and controls in a study of Taiwanese cases and controls. According to ExAC, this variant has a much higher allele frequency in east asians (0.58%) where 1 in 90 carry the variant. This strongly contradicts the variant as causing this disease, and this reported effect should be considered disproven. FGB Arg47Stop R47X pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 2 0 5 Y - - 2 Y - - 3 - 4 - Y - - - - Y - 10 Y 3 N 2 0 Proposed to cause severe hypofibrinogenemia in a recessive manner. Seen homozygously in one of three patients by Asselta et al 2002 (PMID: 12161363), and heterozygously in a single case reported by Asselta et al 2004 (PMID: 15070683). LDB3 Ser189Leu S189L benign Low clinical importance, Likely benign unknown Array 0 0 0 0 0 - - - - 5 - - - - - - - Y - - - - Y Y 6 Y 3 N 0 1 Proposed to cause dominant dilated cardiomyopathy by Vatta et al 2003 (PMID: 14662268) based on observation in a single, small family. ExAC data indicates 1 out of 880 individuals carries this variant, while familial dilated cardiomyopathy has a prevalence of 1 in 5,000 to 10,000 individuals. Although penetrance for variants is incomplete, this allele frequency is much higher than the disease itself, and this hypothesis should be considered disproven. MED25 Ala335Val A335V benign Low clinical importance, Uncertain benign recessive Array 0 0 0 1 0 - - - - 4 Y - - - - - - - - - - - - - 2 - 1 N 0 0 Proposed by Leal et al 2009 to cause recessive Charcot-Marie-Tooth disorder in an extended Costa Rican family. (Reported via OMIM to ClinVar, see: http://www.ncbi.nlm.nih.gov/clinvar/RCV000001387/) According to ExAC allele frequency data, we would expect 1 in 25,000 to 30,000 people to be homozygous for this variant. Charcot-Marie-Tooth type 2 has a prevalence of 1 in 10,000. If this hypothesis were true, homozygosity this variant alone would theoretically account for more than a third of cases. As such we would expect strong evidence in literature for an effect, but we have only a single report of a family (where linkage can confound analysis) and no other reports. ATRX Asn1860Ser N1860S benign Low clinical importance, Likely benign undefined Array 0 0 0 0 0 - - - - 5 Y 0 Y - - - - Y - - - - Y Y 0 - 3 N 0 1 Proposed to cause X-linked alpha thalassemia intellectual disability syndrome. This assertion was recorded by OMIM in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012490/), made by Gibbons et al 1995 (PMID: 7697714) where the variant was seen once in 25 cases. However, ExAC allele frequency data indicates 1 in 160 men carry this variant – extremely discordant with the proposed effect – and so this hypothesis is strongly contradicted. CYP21A2 Gln319Stop Q319X pathogenic High clinical importance, pathogenic recessive Array 0 0 0 2 0 4 Y - - 5 Y - - 3 - 4 - Y - - - - Y Y 10 Y 4 N 2 2 Causes 21-hydroxylase deficiency (congenital adrenal hyperplasia) in a recessive manner, causing sex steroid dysfunction that can alter primary and secondary sexual characteristics. Recorded in ClinVar by OMIM and GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012951/), this variant was first reported by Globerman et al 1988 (PMID: 3267225). Analyzing 200 families, Ezquieta et al 2002 (PMID: 12220458) found this variant had an allele frequency of 8.3% in patients. FAM161A Arg437Stop R437X pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 2 Y - - 5 Y - - 4 - 1 - - - - - - - - 10 Y 2 N 2 1 Reported to cause retinitis pigmentosa in a recessive manner. This effect is reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000000053/). Both sources cite Langmann et al 2010 (PMID: 20705278), who studied a large consanguineous affected family and subsequently investigated 118 unrelated German cases. They saw this variant homozygous in three of those 118 cases. KCNQ3 Pro574Ser P574S benign Low clinical importance, Likely benign undefined Array 0 0 0 0 0 0 Y - - 5 Y - - - - - - Y - - - - Y - 3 - 2 N 0 1 Reported to cause benign familial neonatal seizures (BFNS), as recorded in ClinVar by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000020597/). The relevant GeneReviews article (http://www.ncbi.nlm.nih.gov/books/NBK201978/) lists this variant in Table 3, however, the variant is described as coincidentally observed in cases (another variant was believed pathogenic), seen in controls as well as cases, and has no functional difference from wildtype. The GeneReviews authors recorded it as "possibly a variant of unknown significance", which means the ClinVar category of "pathogenic" is mislabeled. On the basis of allele frequency we can also consider such an effect disproven, as 1 in 150 with European ancestry carry this variant – far higher than the prevalence of BNFS. NPHS1 Arg256Trp R256W pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - 0 Y 0 Y - - 5 - 1 - Y - - - - Y - 7 Y 2 N 2 0 Reported to cause congenital nephrotic syndrome, a rare recessive disorder that leads to kidney failure in infants and often lethal by a year or two of age. This classification comes from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) (see Clinvar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000049935/). Heeringa et al 2008 (PMID: 18503012) report seeing this variant once in a study of 32 affected children. GDF6 Asp57His D57H pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - - Y 0 Y 0 Y 4 - 1 - Y - - - - Y - 3 - 2 N 2 0 Reported to cause Leber congenital amaurosis in a recessive manner, causing congenital vision loss. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000054426/) and comes from Asai-Coakwell 2013 (PMID: 23307924), who report seeing this variant compound heterozygous with another pathogenic variant in a single case out of 279 studied. According to ExAC data, about 1 in 6000 with European ancestry carry this variant. AARS2 Gly965Arg G965R pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - - - 0 Y 0 Y 5 - 1 - - - - - - - - 6 Y 1 N 2 0 Reported to cause progressive leukoencephalopathy in a recessive manner, causing severe neurogeneration begining in young adulthood. This effect is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000132555/), and comes from Dallabona et al 2014 (PMID: 24808023) who found this variant in one of 11 patients, compound heterozygous with another putative pathogenic variant. ANG Lys41Ile K41I benign Low clinical importance, Likely benign unknown Array 0 0 0 0 0 - - - - 5 Y 0 - - - - - Y - - - - Y Y 6 Y 3 N 0 1 Reported to cause familial amyotrophic lateral sclerosis (ALS) in a dominant manner, as recorded in ClinVar by OMIM. This assertion comes from a couple publications, including van Es 2009 (PMID: 19153377) and Millecamps et al (PMID: 20577002). Van Es et al. reported a large family with disease segregating with this variant. Millecamps et al 2010, according to OMIM, saw this variant in 2 out of 162 families. However, ExAC reports that this variant has an allele frequency of 0.165% in European ancestry. Observations by Millecamps et al have no statistically significant enrichment, and van Es et al may have merely observed linkage to a different pathogenic variant on the same chromosome. The incidence of familial ALS is around 1 in 10,000, according to ExAC data carriers are more than 10x as common as the disease itself: 1 in 300 with European ancestry carry this variant. ATP7B Thr991Met T991M pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - - - 0 Y 0 Y 3 - 4 - Y - - - - Y Y 2 - 3 N 2 0 Reported to cause Wilson's disease in a recessive manner, a disorder where copper accumulation leads to neurological and liver dysfunction. This effect is recorded in ClinVar by LabCorp (http://www.ncbi.nlm.nih.gov/clinvar/RCV000029361/). NPC2 Val30Met V30M pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - - - 0 - 0 - 3 - 1 - Y - - - - Y Y 0 - 3 N 1 0 Reported to cause seizures and epilepsy in a recessive manner, as recorded in ClinVar by the Developmental Genetics Unit; King Faisal Specialist Hospital and Research Center. This assertion cites a supporting publication, Alazami et al 2015 (PMID: 25558065), which cite this as a mutation discovered through whole exome sequencing in a study of 143 consanguineous families with neurogenetic diagnoses. Other mutations in this gene are known to cause Neiman-Pick syndrome type C2 (a very rare variant), but neither of the affected siblings in the affected family had typical Neiman-Pick symptoms (progressive neurodegeneration or hepatosplenomegaly). RXFP2 Thr222Pro T222P benign Low clinical importance, Uncertain benign undefined Array 0 0 0 0 0 - - - - 4 Y 0 - - - - - - - - - - - - 4 Y 1 N 0 0 Reported to cause cryptorchidism, as recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004376/). This assertion comes from Gorlov et al 2002 (PMID: 12217959) and Ferlin et al 2003 (PMID: 12970298). Gorlov et al found this variant in 1 of 61 patients and, according to OMIM, Ferlin et al found the variant in 4 of 87 patients. ExAC data reports this variant has an allele frequency of 0.7% in Europeans, and Ferlin et al's finding has weak significance for enrichment relative to this allele frequency (p = 0.037). Although cryptorchidism is common, so is this variant – 1 in 70 Europeans are carriers: if it had this effect with high penetrance we would see highly significant enrichment in patients. Although the variant could potentially be a risk factor there is no strong evidence for making this assertion, and the hypothesized effect recorded in ClinVar (i.e. high penetrance) should be considered disproven. LRP2 Asp2054Asn D2054N benign Low clinical importance, Uncertain benign unknown Array 0 0 0 0 0 - - - - 4 Y 0 - - - - - Y - - - - - Y -1 - 2 N 0 0 Reported to cause Donnai-Barrow syndrome, a rare recessive disorder causing craniofacial abnormalities, vision and hearing loss, and intellectual disability. This report is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000033108/) and comes from de Ligt et al 2012 (PMID: 23033978), where this variant was seen in 1 of 100 patients studied with exome sequencing. It was potentially compound heterozygous with a de novo frameshift mutation. De Ligt et al don't mention controls, and ExAC data indicates this variant is relatively common in European ancestry (allele frequency of 0.17%, 1 in 300 are carriers). We would expect it to be very common in cases; but the variant was only seen once in 100 cases (no significant enrichment relative to ExAC data). ALPL Glu298Lys E298K pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 1 0 - - - - 0 Y 0 - 5 - 1 - Y - - - - Y Y 0 - 3 N 2 0 Proposed to cause infantile hypophosphatasia in a recessive manner. This comes from a case study reported by Orimo et al 1994 (PMID: 7833929) and is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000014657/). NCF1 Tyr26Shift Y26Shift pathogenic High clinical importance, pathogenic recessive Array 0 0 0 0 0 - - - - 5 Y 5 Y 5 - 4 - Y - - - - Y - 4 Y 3 N 2 2 Causes chronic granulomatous disease in a recessive manner. Recorded in ClinVar by OMIM and GeneReviews (www.ncbi.nlm.nih.gov/clinvar/RCV000002337/). Several publications support this variant as causal, including Noack et al 2001 (PMID: 11133775) which reports that 97% of patients with the A47(0) subtype of this disease carry this variant. HBD Ala28Ser A28S pathogenic Low clinical importance, pathogenic recessive Array 0 0 0 0 0 - - - - 5 Y 5 Y 1 - 0 - Y - - - - Y Y -1 - 3 N 0 2 Causes delta thalasemia in a recessive manner. Individuals cannot produce hemoglobin A2, but this doesn't generally have health consequences (A2 accounts for only 2-3% of hemoglobin in adults). De Angioletti et al 2002 (PMID: 12402333) reported this variant, A2-Yialousa, found in 42 of 63 affected families. SHH Val13Shift V13Shift pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 4 Y - - - - 0 Y 5 Y 1 - Y - - - - Y Y 4 Y 4 N 2 0 Reported to cause holoprosencephaly in a dominant manner, causing facial and brain deformity. This comes from a ClinVar entry, where it is reported by GeneReviews (http://www.ncbi.nlm.nih.gov/clinvar/RCV000056099/). C7 Arg521Ser R521S pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 2 - - - 0 - - - 3 - 3 - - - - - - - - 3 - 1 N 1 0 Reported to cause complement component 7 deficiency in a recessive manner, increasing susceptibility to systemic infections. This report is recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012887/). ACE Arg496Stop R496X pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 2 Y - - 4 Y - - 5 Y 1 - Y - - - - Y - 10 Y 3 N 2 1 Reported to cause renal tubular agenesis, reported by OMIM. This comes from Gribouval et al 2012 (PMID: 22095942), a case study which found this variant homozygous in an affected newborn. GBA Leu483Pro L483P pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 2 Y - - 5 Y - - 4 - 3 - Y - - - - Y Y 7 Y 3 N 2 1 Causes Gaucher's disease, a recessive disorder whose symptoms include anemia, bruising, bone lesions, and spleen and liver issues. Reported to ClinVar by OMIM and Emory Genetics Laboratory (http://www.ncbi.nlm.nih.gov/clinvar/RCV000004509/), numerous publications cite this variant as causing the disease. TGDS Ala100Ser A100S pathogenic Moderate clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 0 - - - 5 Y - - 3 - 1 - - - - - - - - -1 - 1 N 1 1 Ehmke et al 2014 (PMID: 25480037) report this variant causes Catel Manzke syndrome in a recessive manner. This effect is recorded in ClinVar by OMIM. LRP5 Arg1534Stop R1534X pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 4 Y - - 3 Y - - 4 - 1 - Y - - - - Y Y 10 Y 4 N 2 1 Reported to cause osteoporosis pseudoglioma syndrome in a recessive manner. This effect is recorded in ClinVar by OMIM, (http://www.ncbi.nlm.nih.gov/clinvar/RCV000033260/). This comes from Narumi et al 2010 (PMID: 20034086), who found this variant compound heterozygous in a Japanese patient. Although the report didin't establish statistical significance, the variant may be very rare. ExAC has no allele frequency for the variant. This rarity would be consistent with the proposed effect, as is the the highly disruptive nature of the variant (nonsense mutation). ACADM Arg206Cys R206C pathogenic High clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 1 - - - 3 Y - - 4 - 1 - Y - - - - Y Y 8 Y 3 N 2 0 Reported to cause Medium-chain acyl-coenzyme A dehydrogenase deficiency, a recessive disorder. This is recorded in ClinVar by Emory Genetics Lab (http://www.ncbi.nlm.nih.gov/clinvar/RCV000180087/). No additional data is avaliable, but the variant's rarity seems consistent with this reported effect. PAH Ala403Val A403V pathogenic High clinical importance, Likely pathogenic recessive Array 0 0 0 0 0 2 Y - - 5 - - - 4 - 5 - Y - - - - Y Y 2 - 3 N 2 1 Reported to cause phenylketonuria, as recorded in ClinVar by three different genetic testing groups (Emory Genetics Lab, Counsyl, and Partners LMM): http://www.ncbi.nlm.nih.gov/clinvar/RCV000150075/ This effect seems to be well-supported in literature, e.g. Daniele et al 2007 (PMID: 17096675) report this variant accounting for 11.6% of disease-causing variants in patients studied in Southern Italy. F11 Phe301Leu F301L pathogenic High clinical importance, pathogenic recessive Array 0 0 0 0 0 - - - - 5 - 5 - 3 - 4 - Y - - - - Y - 0 - 2 N 2 2 Causes factor XI deficiency, causing increased bleeding and impaired clotting. Recorded in ClinVar by OMIM (http://www.ncbi.nlm.nih.gov/clinvar/RCV000012667/), this effect seems to be well-established by literature and is found in patients with Ashkenazi ancestry. Asakai et al 1991 (PMID: 2052060) called this variant "Type III" and report it accounted for 47% of disease-causing alleles in 46 patients studied. EMD Arg157Gln R157Q pathogenic High clinical importance, Uncertain pathogenic unknown Array 0 0 0 0 0 0 - 0 - 0 Y 0 Y 4 - 3 - Y - - - - Y Y 0 - 3 N 2 0 Reported by LapCorp to ClinVar as a "likely pathogenic" cause of cardiomyopathy: http://www.ncbi.nlm.nih.gov/clinvar/RCV000029690/ It's unclear what inheritance pattern is proposed or what evidence is supports this hypothesis. This gene is usually associated with Emery-Dreifuss muscular dystrophy, and ExAC data indicates that this may be a low quality site in genome/exome sequencing. DCAF8 Arg317Cys R317C pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 1 Y 2 Y 4 - 1 - - - - - - - - 8 Y 1 N 2 0 Reported to cause axonal hereditary motor and sensory neuropathy in a dominant manner, with mild cardiomyopathy. Evidence for this may be weak: this report comes from a 2014 paper, Klein et al: http://www.ncbi.nlm.nih.gov/pubmed/24500646 and is recorded in ClinVar by OMIM: http://www.ncbi.nlm.nih.gov/clinvar/variation/133348/ COL2A1 Thr1439Met T1439M pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 1 Y 2 Y 3 - 1 - Y - - - - Y Y 2 - 3 N 1 0 Reported to cause spondyloperipheral dysplasia in a dominant fashion, impairing bone growth. Evidence for this is unclear, only a single paper from 2001 is referenced as supporting evidence], which reports finding the variant in a single affected family: http://www.ncbi.nlm.nih.gov/pubmed/11746045 This effect is recorded in ClinVar by two sources: http://www.ncbi.nlm.nih.gov/clinvar/variation/17385/ GENE IleThrMet2Ala ITM2A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 1 N - - ATP1A2 Arg383His R383H pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 1 Y - - 0 Y 0 - 3 - 1 - Y - - - - Y Y 1 - 3 N 1 0 Reported to cause disease in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/204886/). The putative condition wasn't specified by the submitter GeneDx, which classified it as "likely pathogenic", but other variants are reported to have cause dominant disorders involving hemiplagia (paralysis or weakness of half the body) and migraine. The specific evidence supporting this variant's effect is unknown and presumably unpublished. SCN9A Ile720Lys I720K pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - 1 Y ! Y - - 3 - 1 - Y - - - - Y Y 6 Y 3 N 1 0 This variant is reported to cause erythromelalgia (burning pain, warmth, and redness of the extremities) and/or small fiber neuropathy in a dominant fashion. These reports are recorded in ClinVar by Baylor Miraca Genetics Lab and OMIM, respectively (http://www.ncbi.nlm.nih.gov/clinvar/variation/30357/). However, ExAC data suggests 1 in 2,000 of European ancestry carry this variant, far exceeding the prevalence of the trait (erythromelalgia affects about 1 in 100,000). ExAC also notes variant data here may be low quality (which could affect their own database and genome data from other sources). MYL2 Asn47Lys N47K pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 1 Y - - ! Y - - 4 - 1 - Y - - - - Y Y 1 - 3 N 2 0 Reported in ClinVar by multiple groups, potentially causing cardiomyopathy in a dominant fashion (http://www.ncbi.nlm.nih.gov/clinvar/variation/31766/). GeneDx classified this as pathogenic, and other groups classified the effect as uncertain. However, according to ExAC data 1 in 1700 with European descent carry this variant. This could be seen as contradicting the proposed effect, because such a high frequency would suggest this variant (if causal) should account for a large fraction of cases and should thus have strong supporting evidence (i.e. far stronger than "uncertain" status with specialist groups). CACNA1B Arg1389His R1389H pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - ! Y 1 Y 3 - 1 - - - - - - - - 1 - 1 N 1 0 Reported to cause autosomal dominant dystonia, muscular hyperexcitability, and cardiac arrhythmias. This putative effect is recorded in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/189196/) based on an OMIM report (http://www.omim.org/entry/601012#0001). That report cites papers studying a single family for which this variant was believed to cause disease. However this variant is relatively common: 1 in 900 with European ancestry carry the variant. Typically if a variant this common caused serious disease, it would have a lot more evidence and literature than seems to be present here. MUTYH Gly369Asp G369D pathogenic High clinical importance, pathogenic recessive Array 0 0 0 0 0 2 Y - - 5 Y 5 Y 4 - 3 - Y - - - - Y - 4 Y 2 N 2 2 Reported to cause high penetrance colorectal cancer (MUTYH-Associated Polyposis) in a recessive manner (i.e. if there are two copies, or if combined with another damaging variant in the same gene). This effect is consistently reported to ClinVar by several sources (http://www.ncbi.nlm.nih.gov/clinvar/variation/5294/), indicating the evidence supporting this effect is fairly strong. CDKN2A Pro11ProAlaAlaGlySerSerMetGluPro P11PAAGSSMEP pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 0 Y 0 Y 4 - 4 - Y - - - - Y - 4 Y 2 N 1 0 Reported in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/11012588/) by GeneDx as causing "Hereditary cancer-predisposing syndrome". No further information is provided, it's unclear what evidence GeneDx had that led to reporting this effect. Similar variants typically have a dominant effect. Other variants in CDKN2A are implicated in causing hereditary melanoma. This variant doesn't appear in ExAC's allele frequency data, which could mean it's quite rare. (On the other hand, it might not be present for purely technical reasons.) KCNV2 Lys3Shift K3Shift pathogenic Moderate clinical importance, Uncertain pathogenic recessive Array 0 0 0 0 0 - - - - 0 Y 0 Y 3 - 0 - - - - - - - - 4 Y 2 N 1 0 Reported in ClinVar to cause retinal cone dystrophy in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/RCV000033031.3/ ABCB6 Arg723Gln R723Q pathogenic Low clinical importance, Uncertain pathogenic dominant Array 0 0 0 1 0 - - - - 0 Y 2 Y 0 - 2 - - - - - - - - 0 - 1 N 0 0 Reported to cause familial pseudohyperkalemia in dominant manner, causing a false reading of elevated potassium in blood tests. This hypothesis comes from Bawazir et al 2014. It's unclear how common this trait is. It seems rare in literature, but it's possible most affected individuals are unaware they have the trait. ExAC data indicates 1 in 400 Europeans carries this variant, which seems surprisingly high -- this could contradict the proposed effect, or it's possible this trait is simply generally undetected. MUTYH Tyr152Cys Y152C pathogenic Insufficiently evaluated pathogenic recessive Array 0 0 0 3 0 - - - - - - - - 4 - 4 - Y - - - - Y - 6 Y 2 N - - Reported by numerous labs in ClinVar (http://www.ncbi.nlm.nih.gov/clinvar/variation/5293/), causing MUTYH-associated polyposis (MAP) in a recessive manner. Affected individuals have a greatly increased lifetime risk of colorectal cancer. GET-Evidence predicts "Y152C" for this genomic variation, but ClinVar reports the variant as MUTYH Y179C. Carriers may also have some increased risk for colorectal cancer. COL5A1 Gly856Shift G856Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 2 Y - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - While this specific variant has not been studied and in fact seems not to appear in any available data, numerous other variants in COL5A1 are associated with Ehlers-Danlos syndrome phenotypes, some of which are thought to be causative. PLEC Asp4004Shift D4004Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - FGFR3 Leu259Shift L259Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 4 N - - CTNS Leu328Pro L328P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - VPS13A Ser734Asn S734N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 0 - 2 N - - CBS Ala545Thr A545T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MUSK Ile506Val I506V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -4 - 3 N - - FANCM Asn655Ser N655S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NEUROD1 His206Shift H206Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - BEST1 Tyr245Stop Y245X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - BEST1 Ser192Stop S192X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 10 Y 4 N - - BLM Ala1203Val A1203V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - TTN Pro17698Leu P17698L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 7 Y 3 N - - TTN Asn6500Lys N6500K not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BIN1 Ser360Shift S360Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - C3 Lys633Arg K633R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -3 - 2 N - - IGF2 Leu135Arg L135R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - ABCA4 Cys1502Stop C1502X pathogenic Insufficiently evaluated pathogenic unknown Array 0 0 0 1 0 3 Y - - - - - - 4 Y 2 Y Y - - - - Y - 10 Y 3 N - - Mentioned in a single publication as associated with Stargardt disease, though available literature mentions modifying it to C1502R to "reflect the primary sequence change of the corresponding C1477R mutant in ABCA1 linked to Tangier disease". ROM1 Leu114Shift L114Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 1 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 3 N - - TNXB Thr1495Ile T1495I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - Y 3 - 2 N - - LFNG ValHis248AlaGly VH248AG not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - SIL1 Thr123Ile T123I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - COL7A1 Arg445Gln R445Q not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - APC Gly2502Ser G2502S not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 2 - 3 N - - CEP290 Asp1413His D1413H not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 3 - 3 N - - CFTR Ser42Phe S42F not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - MYO7A Asn501Pro N501P not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - WT1 Lys476Asn K476N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - BEST1 Met193Leu M193L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -3 - 3 N - - BEST1 Lys194Asn K194N not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - KCNH2 Asp767Gly D767G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 4 Y 3 N - - KCNH2 Val279Leu V279L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NIPBL Pro1186Arg P1186R not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 5 Y 3 N - - GBA Asp63Glu D63E not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y -2 - 3 N - - GBA Phe76Leu F76L not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 0 - 3 N - - NF1 Tyr489Cys Y489C not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 6 Y 3 N - - HBA2 Ala80Gly A80G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y Y 1 - 3 N - - MYO1G IleAsnTyrCysAsnGluLysLeu412AsnAsnTyrCysAsnGluLysGln INYCNEKL412NNYCNEKQ not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 7 Y 1 N - - RAX Ala189Thr A189T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - 0 - 0 - Y - - - - Y Y 1 - 3 N - - Asymptomatic heterozygote. Mother is heterozygote with unilateral anophthalmia/microphthalmia. Brother heterozygote with severe myopia. Sister likely asymptomatic heterozygote. Two offspring of sister have anophthalmia/microphthalmia. Family also has novel variant in BCORL1 V1334G CXCL16 Leu39Shift L39Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT10 Gly130GlyGlyPheGlyGlyGlyGlyPheGlyGlyGly G130GGFGGGGFGGG not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - BZRAP1 Leu1046Shift L1046Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ELAVL3 Ala18Shift A18Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KCNT1 Lys479Shift K479Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - HEPACAM2 Gln136Stop Q136X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - IRS4 Lys592Shift K592Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BTNL9 Leu208Shift L208Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - BTNL9 Asp204Ala D204A not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 5 Y 1 N - - NOTCH1 Leu1164Gly L1164G not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - - - 8 Y 1 N - - FBXW5 Phe280Stop F280X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - - DPCR1 Thr381Shift T381Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - PLAA His230Shift H230Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - MUC3A Val82Shift V82Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZNF862 Asp271Shift D271Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - ZP3 Glu48Shift E48Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - GLE1 Val132Ile V132I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - -4 - 1 N - - EYS Asp1662Val D1662V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 8 Y 2 N - - GUCA1B Ala64Thr A64T not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 1 - 2 N - - OTOA Thr1094Ile T1094I not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 3 - 1 N - - PHKB Ile192Val I192V not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - -4 - 2 N - - GIMAP7 Ser22Shift S22Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - EIF4H Met180Shift M180Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - TAS2R46 Val87Shift V87Shift not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 4 Y 2 N - - KRT10 His487TyrGlyGlyGlyTyrGlyGlyGlySerSer H487YGGGYGGGSS not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - Y - - - - Y - 4 Y 2 N - - PRNP Asp178Asn D178N pathogenic High clinical importance, pathogenic dominant Array 0 0 0 0 0 - - - - 5 - 5 - 4 - 2 - Y - - - - Y Y -1 - 3 N 2 2 Reported by ClinVar to cause Fatal familial insomnia and Jakob-Creutzfeldt disease (http://www.ncbi.nlm.nih.gov/clinvar/variation/13399/). In ClinVar, it is reported as ""pathogenic"" by OMIM. OMIM's submission refers to 13 publications related to this variant: https://www.ncbi.nlm.nih.gov/pubmed/1671983,1684756,1353341,1439789,1469441,1671440,9751723,7709737,1353342,19038218,12205650,16227536,1353344 Various publications report the variant in unrelated families. In addition, Goldfarb et al 1992 (https://www.ncbi.nlm.nih.gov/pubmed/1353341) reports that the position neighboring this genetic variant affects the presentation of disease; they report that Val129 is associated with FFI, while Met129 is associated with hereditary JCD. MYOT Ser60Cys S60C pathogenic High clinical importance, pathogenic dominant Array 0 0 0 0 0 - - - - 5 - 5 - 4 - 1 - Y - - - - Y Y 3 - 3 N 2 2 Reported by ClinVar to cause Myofibrillar myopathy or myotilinopathy (https://www.ncbi.nlm.nih.gov/clinvar/variation/5836/). In ClinVar, it is reported as "pathogenic" by submissions from Emory Genetics Laboratory, Wellcome Trust Centre for Mitochondrial Research, and OMIM. These resources reference a couple of papers. Selcen and Engel 2004 (https://www.ncbi.nlm.nih.gov/pubmed/15111675) report finding this variant in 3 of 57 patients tested for myofibrillar myopathy, and Olive et al 2012 (https://www.ncbi.nlm.nih.gov/pubmed/21676617) found this variant in 7 of 35 families tested for myofibrillar myopathy. KCNH2 Ala913Val A913V pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - 0 - 4 - - - 4 - 3 - Y - - - - Y Y 2 - 3 N 2 0 Reported by ClinVar to cause Long QT Syndrome (https://www.ncbi.nlm.nih.gov/clinvar/variation/14443/). In ClinVar, it is reported as "likely pathogenic" or "pathogenic" by submissions from Blueprint Genetics, Invitae, and OMIM, however it's listed as "uncertain significance" by GeneDx. These resources reference a couple of papers, including Kapplinger et al. 2009 (https://www.ncbi.nlm.nih.gov/pubmed/19716085), which found this variant in 5 out of 2500 patients tested. SCN5A Pro627Leu P627L pathogenic High clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 0 Y 0 Y 4 - 1 - Y - - - - Y Y 7 Y 3 N 2 0 Reported by ClinVar to cause disease (https://www.ncbi.nlm.nih.gov/clinvar/variation/201577/). The condition is unspecified in ClinVar, but other variants in this gene cause dominantly-inherited heart diseases, including Brugada syndrome, familial dilated cardiomyopathy, and Romano-Ward syndrom. In ClinVar this variant is reported as "pathogenic" by GeneDx. However, it is classified as "uncertain significance" by the Stanford Center for Inherited Cardiovascular Disease. Neither ClinVar submission includes references to published literature. The frequency of this variant is extremely rare according to ExAC data (http://exac.broadinstitute.org/variant/3-38645213-G-A). MYBPC3 Arg502Trp R502W pathogenic High clinical importance, pathogenic dominant Array 0 0 0 0 0 - - - - 4 - 4 - 4 - 3 - Y - - - - Y Y 7 Y 3 N 2 2 Reported by ClinVar to cause hypertrophic cardiomyopathy (https://www.ncbi.nlm.nih.gov/clinvar/variation/42540/). In ClinVar this variant is reported as "pathogenic" by eight sources, including GeneDx, Invitae, the Stanford Center for Inherited Cardiovascular Disease, and the Laboratory for Molecular Medicine (Partners HealthCare). This last source provided seven publications supporting this classification (https://www.ncbi.nlm.nih.gov/pubmed/20031618,20378854,16199542,15519027,12707239,19574547,18809796). This variant is quite rare according to ExAC data, consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/11-47364249-G-A). STRC Gln1353Stop Q1353X pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 0 Y 0 Y 3 - 1 - Y - - - - Y Y 10 Y 4 N 1 0 Reported by ClinVar to cause deafness in a dominant manner (https://www.ncbi.nlm.nih.gov/clinvar/variation/236066/). In ClinVar this variant is reported as a "pathogenic" cause of this disease by a single source, the Laboratory of Prof. Karen Avraham,Tel Aviv University. This submission does not reference any published literature. This variant is rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/15-43896918-G-A). RELN Pro672Leu P672L pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 0 Y 0 Y 3 - 3 - - - - - - - - 7 Y 1 N 1 0 Reported by ClinVar to cause familial temporal lobe epilepsy (https://www.ncbi.nlm.nih.gov/clinvar/variation/208481/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, GeneReviews, which cites their article written by Ruth Ottman: https://www.ncbi.nlm.nih.gov/books/NBK1537/ This variant is somewhat rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/7-103281044-G-A). SLC26A8 Arg87Gln R87Q pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 2 Y 0 - 3 - 3 - - - - - - - - 0 - 1 N 1 0 Reported by ClinVar to cause spermatogenic failure and male infertility (https://www.ncbi.nlm.nih.gov/clinvar/variation/50909/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, OMIM, which cites Dirami et al 2013 (https://www.ncbi.nlm.nih.gov/pubmed/23582645). Dirami et al found this variant heterozygous in one of 146 patients screened with "moderate asthenozoospermia". The authors also report molecular evidence that this variant disrupts coorporation between this gene product and the CFTR receptor (and their hypothesis is based on the consequences of CFTR variants, which can cause male infertility). This variant is moderately rare: according to ExAC it is carried by roughly 1 in 1400 individuals (http://exac.broadinstitute.org/variant/5-176048219-G-T). The statistical significance of this report may be weak or absent. Although the authors reported weak statistical significance for enrichment relative to controls (p=0.0329), a replication of their chi-square calculation yields p=0.066, and a two-tailed Fisher's Exact test produces p=0.18. SCN11A Leu1158Pro L1158P pathogenic Moderate clinical importance, Uncertain pathogenic dominant Array 0 0 0 0 0 - - - - 0 Y 0 Y 3 - 1 - - - - - - - - 7 Y 1 N 1 0 Reported by ClinVar to cause familial episodic pain syndrome (https://www.ncbi.nlm.nih.gov/clinvar/variation/157599/). In ClinVar this variant is reported as "pathogenic" (causing this condition) by a single source, OMIM, which cites Huang et al 2014 (https://www.ncbi.nlm.nih.gov/pubmed/24776970). However, it is reported as "uncertain significance" by Emory Genetics Laboratory. Huang et al found this variant heterozygous in two of 345 patients screened with painful peripheral neuropathy. The authors also report molecular evidence that this variant disrupts the function of the SCN11A protein product. This variant is uncommon but not rare: according to ExAC it is carried by 1 in 600 Europeans (http://exac.broadinstitute.org/variant/5-176048219-G-T). The frequency of this variant seems at odds with a proposed "rare disease" effect, and the statistical significance of Huang et al's observation may be weak or absent. They report the variant is also seen in EVS, and a two-tailed Exact Fisher test using their reported numbers produces a p-value of 0.087. PPIL4 Glu433Stop E433X not reviewed Insufficiently evaluated not reviewed unknown Array 0 0 0 0 0 - - - - - - - - - - - - - - - - - - - 10 Y 2 N - -